#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_ORegAnno_bin	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
ADAM18	8749	broad.mit.edu	37	8	39505882	39505883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39505882_39505883insT	ENST00000265707.5	+	12	1111_1112	c.1066_1067insT	c.(1066-1068)attfs	p.I356fs	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Frame_Shift_Ins_p.I332fs	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S358fs*1(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGGTAGAAAGATTTTTAGCAAC	0.332																																					p.I356fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1066_1067insT	8						.																																			39625040	SO:0001589	frameshift_variant	8749	exon12			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1071dupT	8.37:g.39505887_39505887dupT	ENSP00000265707:p.Ile356fs		39625039	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Frame_Shift_Ins	INS	ENST00000265707.5	37	CCDS6113.1																																																																																				0.332	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
RP1	6101	broad.mit.edu	37	8	55538311	55538312	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55538311_55538312insA	ENST00000220676.1	+	4	2017_2018	c.1869_1870insA	c.(1870-1872)aaafs	p.K624fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	624					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.N625fs*4(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGAACTGACAAAAATATTTC	0.371																																					p.D623fs	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1869_1870insA	8						.																																			55700865	SO:0001589	frameshift_variant	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1874dupA	8.37:g.55538316_55538316dupA	ENSP00000220676:p.Lys624fs		55700864	NM_006269		Frame_Shift_Ins	INS	ENST00000220676.1	37	CCDS6160.1																																																																																				0.371	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
CNGB3	54714	broad.mit.edu	37	8	87588277	87588278	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87588277_87588278insT	ENST00000320005.5	-	18	2231_2232	c.2184_2185insA	c.(2182-2187)aaagaafs	p.E729fs		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	729					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E729fs*3(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tcttcattttctttttgtttat	0.342																																					p.E729fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2185_2186insA	8						.																																			87657394	SO:0001589	frameshift_variant	54714	exon18			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2185dupA	8.37:g.87588282_87588282dupT	ENSP00000316605:p.Glu729fs		87657393	NM_019098	C9JA51|Q9NRE9	Frame_Shift_Ins	INS	ENST00000320005.5	37	CCDS6244.1																																																																																				0.342	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
C19orf44	84167	broad.mit.edu	37	19	16611755	16611756	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16611755_16611756insA	ENST00000221671.3	+	2	308_309	c.152_153insA	c.(151-156)ctaaaafs	p.LK51fs	C19orf44_ENST00000594035.1_Frame_Shift_Ins_p.LK51fs|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	51								p.R53fs*7(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCAGATTTCTAAAAAGAAACC	0.436																																					p.L51fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.152_153insA	19						.																																			16472756	SO:0001589	frameshift_variant	84167	exon2			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.157dupA	19.37:g.16611760_16611760dupA	ENSP00000221671:p.Leu51fs		16472755	NM_032207	Q8N6Y7	Frame_Shift_Ins	INS	ENST00000221671.3	37	CCDS12345.1																																																																																				0.436	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
C1orf85	112770	broad.mit.edu	37	1	156265400	156265401	+	Frame_Shift_Ins	INS	-	-	C	rs368515457		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156265400_156265401insC	ENST00000362007.1	-	1	62_63	c.36_37insG	c.(34-39)gggcacfs	p.H13fs	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	13					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H13fs*36(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGGGCACAGTGCCCCCAACCCC	0.649																																					p.H13fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.37_38insG	1						.																																			154532025	SO:0001589	frameshift_variant	112770	exon1			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.37dupG	1.37:g.156265405_156265405dupC	ENSP00000354553:p.His13fs		154532024	NM_144580	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Frame_Shift_Ins	INS	ENST00000362007.1	37	CCDS1139.1																																																																																				0.649	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1	NM_144580	
CCDC181	57821	broad.mit.edu	37	1	169364415	169364416	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169364415_169364416insT	ENST00000367806.3	-	6	1551_1552	c.1399_1400insA	c.(1399-1401)atgfs	p.M467fs	CCDC181_ENST00000367805.3_Frame_Shift_Ins_p.M466fs|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000545005.1_Frame_Shift_Ins_p.M466fs	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	467						nucleus (GO:0005634)		p.M466fs*12(1)									TTGCTCTGCCATTTTTTCCATC	0.406																																					p.M466fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1397_1398insA	1						.																																			167631040	SO:0001589	frameshift_variant	57821	exon6			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1400dupA	1.37:g.169364421_169364421dupT	ENSP00000356780:p.Met467fs		167631039	NM_021179	O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Ins	INS	ENST00000367806.3	37																																																																																					0.406	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179	
WDR64	128025	broad.mit.edu	37	1	241964454	241964455	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241964454_241964455insA	ENST00000366552.2	+	27	3390_3391	c.3183_3184insA	c.(3184-3186)aaafs	p.K1062fs	WDR64_ENST00000437684.2_Frame_Shift_Ins_p.K895fs	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1062								p.N617fs*>19(1)|p.N1064fs*>19(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGAAGTTTGAAAAAAAATTT	0.381																																					p.L1061fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.3183_3184insA	1						.																																			240031078	SO:0001589	frameshift_variant	128025	exon27			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3191dupA	1.37:g.241964462_241964462dupA	ENSP00000355510:p.Lys1062fs		240031077	NM_144625	B1ANT0|Q7Z573|Q96LY9	Frame_Shift_Ins	INS	ENST00000366552.2	37																																																																																					0.381	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
CSMD2	114784	broad.mit.edu	37	1	34049245	34049246	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34049245_34049246insA	ENST00000373381.4	-	47	7412_7413	c.7236_7237insT	c.(7234-7239)tttgatfs	p.D2413fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2415	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2415fs*1(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTACCATCAAAAATCTCAA	0.49																																					p.D2415_G2416delinsX												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.7243_7244insT	1						.																																			33821833	SO:0001589	frameshift_variant	114784	exon48			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7237dupT	1.37:g.34049250_34049250dupA	ENSP00000362479:p.Asp2413fs		33821832	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Ins	INS	ENST00000373381.4	37																																																																																					0.490	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
SOBP	55084	broad.mit.edu	37	6	107955698	107955699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:107955698_107955699insC	ENST00000317357.5	+	6	2309_2310	c.1650_1651insC	c.(1651-1653)cccfs	p.P551fs		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.N553fs*184(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCGACTCCAAGCCCCCCAACGG	0.693																																					p.K550fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1650_1651insC	6						.																																			108062392	SO:0001589	frameshift_variant	55084	exon6			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1656dupC	6.37:g.107955704_107955704dupC	ENSP00000318900:p.Pro551fs		108062391	NM_018013		Frame_Shift_Ins	INS	ENST00000317357.5	37	CCDS43488.1																																																																																				0.693	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013	
SYNE1	23345	broad.mit.edu	37	6	152716698	152716699	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152716698_152716699insT	ENST00000367255.5	-	51	8265_8266	c.7664_7665insA	c.(7663-7665)aatfs	p.N2555fs	SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.N2562fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.N2562fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.N2594fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.N2555fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2555					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.N2555fs*2(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATGAACTTCATTTTTCTTCTC	0.396										HNSCC(10;0.0054)																											p.N2555fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.7665_7666insA	6						.																																			152758392	SO:0001589	frameshift_variant	23345	exon51			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7665dupA	6.37:g.152716703_152716703dupT	ENSP00000356224:p.Asn2555fs		152758391	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	CCDS5236.2																																																																																				0.396	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
DLAT	1737	broad.mit.edu	37	11	111896976	111896977	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111896976_111896977insA	ENST00000280346.6	+	2	993_994	c.334_335insA	c.(334-336)gaafs	p.E112fs	DLAT_ENST00000537636.1_Frame_Shift_Ins_p.E10fs|DLAT_ENST00000393051.1_Frame_Shift_Ins_p.E112fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	112	Lipoyl-binding 1. {ECO:0000255|PROSITE- ProRule:PRU01066}.			E -> K (in Ref. 4; CAA68787). {ECO:0000305}.	cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.E115fs*10(1)|p.E115fs*7(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		AGCCCGTTGGGAAAAAAAAGAG	0.332																																					p.E112fs												.	.	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)	c.334_335insA	11						.																																			111402187	SO:0001589	frameshift_variant	1737	exon2			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.342dupA	11.37:g.111896984_111896984dupA	ENSP00000280346:p.Glu112fs		111402186	NM_001931	Q16783|Q53EP3	Frame_Shift_Ins	INS	ENST00000280346.6	37	CCDS8354.1																																																																																				0.332	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931	
RHOT1	55288	broad.mit.edu	37	17	30529799	30529800	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30529799_30529800insA	ENST00000333942.6	+	15	1451_1452	c.1212_1213insA	c.(1213-1215)aaafs	p.K405fs	RHOT1_ENST00000583994.1_Frame_Shift_Ins_p.K278fs|RHOT1_ENST00000545287.2_Frame_Shift_Ins_p.K405fs|RHOT1_ENST00000358365.3_Frame_Shift_Ins_p.K405fs|RHOT1_ENST00000581094.1_Frame_Shift_Ins_p.K405fs|RHOT1_ENST00000394692.2_Frame_Shift_Ins_p.K405fs|RHOT1_ENST00000354266.3_Frame_Shift_Ins_p.K384fs	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	405					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I407fs*16(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGACAAGAGATAAAAAGATAGA	0.342																																					p.D404fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1212_1213insA	17						.																																			27553913	SO:0001589	frameshift_variant	55288	exon15			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1217dupA	17.37:g.30529804_30529804dupA	ENSP00000334724:p.Lys405fs		27553912	NM_001033566	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Frame_Shift_Ins	INS	ENST00000333942.6	37	CCDS32612.1																																																																																				0.342	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
MRPL45	84311	broad.mit.edu	37	17	36454459	36454460	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36454459_36454460insA	ENST00000312513.5	+	2	272_273	c.111_112insA	c.(112-114)aaafs	p.K38fs		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	38						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.R40fs*10(1)		breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGTAAGAACTAAAAAACGTTT	0.381																																					p.T37fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.111_112insA	17						.																																			33707979	SO:0001589	frameshift_variant	84311	exon2			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.117dupA	17.37:g.36454465_36454465dupA	ENSP00000308901:p.Lys38fs		33707978	NM_032351	A1L436|Q6ZMJ5	Frame_Shift_Ins	INS	ENST00000312513.5	37	CCDS11326.1																																																																																				0.381	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351	
PVRL3	25945	broad.mit.edu	37	3	110852564	110852565	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:110852564_110852565insA	ENST00000485303.1	+	6	1427_1428	c.1152_1153insA	c.(1153-1155)aaafs	p.K385fs	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	385					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.L387fs*12(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CAACAGAACCTAAAAAATTGCC	0.446																																					p.P384fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1152_1153insA	3						.																																			112335255	SO:0001589	frameshift_variant	25945	exon6			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1158dupA	3.37:g.110852570_110852570dupA	ENSP00000418070:p.Lys385fs		112335254	NM_015480	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Frame_Shift_Ins	INS	ENST00000485303.1	37	CCDS2957.1																																																																																				0.446	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480	
MFSD1	64747	broad.mit.edu	37	3	158522114	158522115	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:158522114_158522115insT	ENST00000264266.8	+	2	232_233	c.170_171insT	c.(169-174)tattttfs	p.YF57fs	RP11-379F4.9_ENST00000607044.1_RNA|MFSD1_ENST00000415822.2_Frame_Shift_Ins_p.YF106fs|MFSD1_ENST00000392813.4_Frame_Shift_Ins_p.I105fs			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	57					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.C59fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTAGGCAGCTATTTTTGCTATG	0.327																																					p.Y106fs	Pancreas(62;1186 1654 36636 37908)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.317_318insT	3						.																																			160004809	SO:0001589	frameshift_variant	64747	exon2			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.175dupT	3.37:g.158522119_158522119dupT	ENSP00000264266:p.Tyr57fs		160004808	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Frame_Shift_Ins	INS	ENST00000264266.8	37																																																																																					0.327	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	
LRRIQ1	84125	broad.mit.edu	37	12	85547514	85547515	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85547514_85547515insA	ENST00000393217.2	+	22	4676_4677	c.4615_4616insA	c.(4615-4617)gaafs	p.E1539fs		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1539								p.I1542fs*8(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCTGAAAAAGAAAAAAAAATT	0.287																																					p.E1539fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.4615_4616insA	12						.			14,3396		0,14,1691						5.7	1.0			17	51,7677		1,49,3814	no	frameshift	LRRIQ1	NM_001079910.1		1,63,5505	A1A1,A1R,RR		0.6599,0.4106,0.5836				65,11073				84071646	SO:0001589	frameshift_variant	84125	exon22			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4624dupA	12.37:g.85547523_85547523dupA	ENSP00000376910:p.Glu1539fs		84071645	NM_001079910	Q567P4|Q9BS17|Q9HA36	Frame_Shift_Ins	INS	ENST00000393217.2	37	CCDS41816.1																																																																																				0.287	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
UFSP2	55325	broad.mit.edu	37	4	186324648	186324649	+	Splice_Site	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186324648_186324649insT	ENST00000264689.6	-	11	1438_1439	c.1322_1323insA	c.(1321-1323)aag>aaAg	p.K441fs		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	441						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.W443fs*17(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATACTTACCTTTTCCAAAAT	0.391																																					p.K441fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1323_1324insA	4						.																																			186561643	SO:0001630	splice_region_variant	55325	exon11			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1323+1->A	4.37:g.186324652_186324652dupT			186561642	NM_018359	Q6IA77|Q96FS3	Frame_Shift_Ins	INS	ENST00000264689.6	37	CCDS3842.1																																																																																				0.391	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359	Frame_Shift_Ins
CCDC110	256309	broad.mit.edu	37	4	186380209	186380210	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186380209_186380210insT	ENST00000307588.3	-	6	1606_1607	c.1531_1532insA	c.(1531-1533)atafs	p.I511fs	CCDC110_ENST00000393540.3_Frame_Shift_Ins_p.I474fs|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Frame_Shift_Ins_p.I511fs	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	511						nucleus (GO:0005634)		p.I511fs*3(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		tttactaattatttttttaaat	0.277																																					p.I474fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1421_1422insA	4						.		,	5,4089		0,5,2042					,	5.8	0.0			23	2,8102		0,2,4050	no	frameshift,frameshift	CCDC110	NM_152775.3,NM_001145411.1	,	0,7,6092	A1A1,A1R,RR		0.0247,0.1221,0.0574	,	,		7,12191				186617204	SO:0001589	frameshift_variant	256309	exon5			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1532dupA	4.37:g.186380216_186380216dupT	ENSP00000306776:p.Ile511fs		186617203	NM_001145411	Q86YI9|Q8N7W0	Frame_Shift_Ins	INS	ENST00000307588.3	37	CCDS3843.1																																																																																				0.277	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775	
NBAS	51594	broad.mit.edu	37	2	15618355	15618356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:15618355_15618356insT	ENST00000281513.5	-	13	1166_1167	c.1141_1142insA	c.(1141-1143)atcfs	p.I381fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.I381fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	381					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.I381fs*4(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTCACCTTTGATTTTTTTTCTC	0.317																																					p.I381fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1142_1143insA	2						.																																			15535807	SO:0001589	frameshift_variant	51594	exon13			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1142dupA	2.37:g.15618363_15618363dupT	ENSP00000281513:p.Ile381fs		15535806	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Frame_Shift_Ins	INS	ENST00000281513.5	37	CCDS1685.1																																																																																				0.317	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
AOX1	316	broad.mit.edu	37	2	201477408	201477409	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201477408_201477409insA	ENST00000374700.2	+	14	1581_1582	c.1340_1341insA	c.(1339-1344)gtctttfs	p.F448fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	448					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.F448fs*10(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGAATGAGAGTCTTTTTTGGAG	0.475																																					p.V447fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1340_1341insA	2						.																																			201185654	SO:0001589	frameshift_variant	316	exon14			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	Exception_encountered	2.37:g.201477408_201477409insA	ENSP00000363832:p.Phe448fs		201185653	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Frame_Shift_Ins	INS	ENST00000374700.2	37	CCDS33360.1																																																																																				0.475	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
SMEK2	57223	broad.mit.edu	37	2	55825950	55825951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55825950_55825951insT	ENST00000345102.5	-	4	823_824	c.522_523insA	c.(520-525)aaactafs	p.L175fs	SMEK2_ENST00000407823.3_Frame_Shift_Ins_p.L175fs|SMEK2_ENST00000272313.5_Frame_Shift_Ins_p.L175fs	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	175					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L175fs*15(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCTGCAATAGTTTTTTAATAT	0.401																																					p.L175fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.523_524insA	2						.																																			55679455	SO:0001589	frameshift_variant	57223	exon4			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.523dupA	2.37:g.55825956_55825956dupT	ENSP00000339769:p.Leu175fs		55679454	NM_001122964	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Frame_Shift_Ins	INS	ENST00000345102.5	37	CCDS46289.1																																																																																				0.401	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
ARPC5L	81873	broad.mit.edu	37	9	127639217	127639218	+	Stop_Codon_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:127639217_127639218insA	ENST00000353214.2	+	0	1712_1713				ARPC5L_ENST00000259477.6_Stop_Codon_Ins|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like						regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)		p.?(1)		large_intestine(2)|lung(1)	3						AAAGACTGTTTAAAAAAAATAA	0.441																																					p.X154delinsX												.	.	1	Unknown(1)	large_intestine(1)	c.460_461insA	9						.																																			126679039	SO:0001567	stop_retained_variant	81873	exon4			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.467dupA	9.37:g.127639225_127639225dupA			126679038	NM_030978	Q7Z523	Frame_Shift_Ins	INS	ENST00000353214.2	37	CCDS6859.1																																																																																				0.441	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978	
CPXM2	119587	broad.mit.edu	37	10	125639805	125639806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:125639805_125639806insT	ENST00000241305.3	-	2	478_479	c.324_325insA	c.(322-327)aaagttfs	p.V109fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	109					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.V109fs*8(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTTCTCATAACTTTTTTGTTGC	0.48																																					p.V109fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.325_326insA	10						.																																			125629796	SO:0001589	frameshift_variant	119587	exon2			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.325dupA	10.37:g.125639811_125639811dupT	ENSP00000241305:p.Val109fs		125629795	NM_198148	B4E3Q2	Frame_Shift_Ins	INS	ENST00000241305.3	37	CCDS7637.1																																																																																				0.480	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
LMNB1	4001	broad.mit.edu	37	5	126140573	126140574	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:126140573_126140574insA	ENST00000261366.5	+	2	826_827	c.465_466insA	c.(466-468)aaafs	p.K156fs	LMNB1_ENST00000395354.1_Frame_Shift_Ins_p.K156fs|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	156	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.S158fs*30(1)|p.D155E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CACTTGGTGACAAAAAAAGTTT	0.446																																					p.D155fs												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(2)	c.465_466insA	5						.																																			126168473	SO:0001589	frameshift_variant	4001	exon2			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.472dupA	5.37:g.126140580_126140580dupA	ENSP00000261366:p.Lys156fs		126168472	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Frame_Shift_Ins	INS	ENST00000261366.5	37	CCDS4140.1																																																																																				0.446	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573	
SLC35B3	51000	broad.mit.edu	37	6	8430088	8430089	+	Intron	INS	-	-	T			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:8430088_8430089insT	ENST00000379660.4	-	3	747				SLC35B3_ENST00000339306.5_Intron|SLC35B3_ENST00000426876.1_Intron	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AAACATATAACTTTTTTACCTG	0.317																																					.	Melanoma(83;700 1353 9357 11478 30548)											.	.	1	Unknown(1)	large_intestine(1)	.	6						.		,,	1,4225		0,1,2112					,,	-0.9	0.0			13	4,8214		0,4,4105	no	intron,intron,intron	SLC35B3	NM_015948.3,NM_001142541.1,NM_001142540.1	,,	0,5,6217	A1A1,A1R,RR		0.0487,0.0237,0.0402	,,	,,		5,12439				8375088	SO:0001627	intron_variant	51000	.			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.297+7->A	6.37:g.8430094_8430094dupT			8375087	.	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Frame_Shift_Ins	INS	ENST00000379660.4	37	CCDS4508.1																																																																																				0.317	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1	NM_015948	
MICU2	221154	broad.mit.edu	37	13	22069459	22069460	+	Splice_Site	INS	-	-	A			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:22069459_22069460insA	ENST00000382374.4	-	11	1108		c.e11-2		MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2						mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)	p.?(1)									TAAACTCCGCTAAAAAACAAAC	0.292																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	13						.																																			20967460	SO:0001630	splice_region_variant	221154	.			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1043-2->T	13.37:g.22069465_22069465dupA			20967459	.	Q8N0T6|Q8NAX8	Splice_Site	INS	ENST00000382374.4	37	CCDS9297.1																																																																																				0.292	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	Intron
ZAN	7455	broad.mit.edu	37	7	100334193	100334193	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100334193G>A	ENST00000348028.3	+	0	359				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R65Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACTGGGTTCGAGCCAGTGGG	0.617																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	7						.						80.0	78.0	79.0					7																	100334193		1821	3877	5698	100172129			7455	exon4			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334193G>A			100172129	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	16.87	3.242684	0.58995	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02498	4.27;4.27;4.27	4.7	3.81	0.43845	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.29009	N	0.013438	T	0.12689	0.0308	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.959;0.976	T	0.00607	-1.1647	10	0.52906	T	0.07	.	11.4809	0.50324	0.0:0.1826:0.8174:0.0	.	65;65	F5H0T8;Q9Y493	.;ZAN_HUMAN	Q	65	ENSP00000445943:R65Q;ENSP00000445091:R65Q;ENSP00000444427:R65Q	ENSP00000423579:R65Q	R	+	2	0	ZAN	100172129	0.061000	0.20836	0.424000	0.26647	0.314000	0.28054	1.349000	0.33998	1.284000	0.44531	0.561000	0.74099	CGA		0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZAN	7455	broad.mit.edu	37	7	100365562	100365562	+	RNA	SNP	C	C	T	rs574171826	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100365562C>T	ENST00000348028.3	+	0	5134				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1657C(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCCAAGTTCGCTACGACGG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18318	0.0		0.0	False		,,,				2504	0.002				p.R1657C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4969T	7						.						56.0	62.0	60.0					7																	100365562		2089	4200	6289	100203498			7455	exon26			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365562C>T			100203498	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	C	17.98	3.519749	0.64634	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.77	4.77	0.60923	von Willebrand factor, type D domain (3);	0.000000	0.43747	D	0.000533	T	0.78898	0.4356	M	0.89601	3.045	0.37020	D	0.896133	D;D	0.89917	1.0;1.0	D;D	0.69824	0.942;0.966	D	0.85328	0.1088	10	0.66056	D	0.02	.	13.9911	0.64367	0.0:1.0:0.0:0.0	.	1657;1657	F5H0T8;Q9Y493	.;ZAN_HUMAN	C	1657;1657;1657;234	ENSP00000445943:R1657C;ENSP00000445091:R1657C;ENSP00000444427:R1657C;ENSP00000441117:R234C	ENSP00000423579:R1657C	R	+	1	0	ZAN	100203498	0.000000	0.05858	0.828000	0.32881	0.044000	0.14063	0.390000	0.20768	2.586000	0.87340	0.655000	0.94253	CGC		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZAN	7455	broad.mit.edu	37	7	100366278	100366278	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100366278G>T	ENST00000348028.3	+	0	5252				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1696I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCCCGACAGAAAGCTTGCA	0.607																																					p.R1696I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5087T	7						.						28.0	28.0	28.0					7																	100366278		1864	4101	5965	100204214			7455	exon27			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366278G>T			100204214	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	15.59	2.878882	0.51801	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.22134	2.47;2.47;2.45;1.97	4.62	-7.18	0.01505	von Willebrand factor, type D domain (2);	1.381740	0.04845	N	0.441344	T	0.15349	0.0370	N	0.19112	0.55	0.09310	N	1	P;P	0.47762	0.878;0.9	B;P	0.45712	0.359;0.491	T	0.38779	-0.9645	10	0.59425	D	0.04	.	9.6794	0.40061	0.18:0.0:0.7007:0.1193	.	1696;1696	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	1696;1696;1696;273	ENSP00000445943:R1696I;ENSP00000445091:R1696I;ENSP00000444427:R1696I;ENSP00000441117:R273I	ENSP00000423579:R1696I	R	+	2	0	ZAN	100204214	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.042000	0.12063	-1.559000	0.01688	-0.345000	0.07892	AGA		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
EPHB4	2050	broad.mit.edu	37	7	100401167	100401167	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100401167T>G	ENST00000358173.3	-	17	3348	c.2880A>C	c.(2878-2880)aaA>aaC	p.K960N	EPHB4_ENST00000360620.3_Missense_Mutation_p.K908N	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	960	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K960N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCCAAGATTTTCTTCTGGT	0.627																																					p.K960N	GBM(200;2113 3072 25865 52728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2880C	7						.						41.0	41.0	41.0					7																	100401167		2203	4300	6503	100239103	SO:0001583	missense	2050	exon17			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2880A>C	7.37:g.100401167T>G	ENSP00000350896:p.Lys960Asn		100239103	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435343	0.62955	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.61980	0.06;0.06	4.64	-0.382	0.12481	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.52532	D	0.000080	T	0.68915	0.3053	M	0.92880	3.355	0.45528	D	0.998485	P;P	0.46784	0.884;0.884	B;P	0.45794	0.287;0.493	T	0.70876	-0.4753	10	0.87932	D	0	.	7.8528	0.29464	0.0:0.3819:0.0:0.6181	.	908;960	Q96L35;P54760	.;EPHB4_HUMAN	N	908;960	ENSP00000353833:K908N;ENSP00000350896:K960N	ENSP00000350896:K960N	K	-	3	2	EPHB4	100239103	0.988000	0.35896	0.998000	0.56505	0.990000	0.78478	0.251000	0.18257	-0.075000	0.12798	0.374000	0.22700	AAA		0.627	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
EPHB4	2050	broad.mit.edu	37	7	100411306	100411306	+	Missense_Mutation	SNP	G	G	A	rs60537976		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100411306G>A	ENST00000358173.3	-	10	2192	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	575					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S575L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGTTTGTCCGAATATTCTGC	0.493																																					p.S575L	GBM(200;2113 3072 25865 52728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1724T	7						.						380.0	352.0	362.0					7																	100411306		2203	4300	6503	100249242	SO:0001583	missense	2050	exon10			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1724C>T	7.37:g.100411306G>A	ENSP00000350896:p.Ser575Leu		100249242	NM_004444	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881491	0.51908	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.11712	2.75;2.75	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000220	T	0.08179	0.0204	L	0.42632	1.34	0.43637	D	0.996033	P;D	0.56035	0.93;0.974	B;B	0.34489	0.095;0.184	T	0.32348	-0.9910	10	0.23891	T	0.37	.	12.586	0.56419	0.0:0.1672:0.8328:0.0	rs60537976	575;575	Q96L35;P54760	.;EPHB4_HUMAN	L	575	ENSP00000353833:S575L;ENSP00000350896:S575L	ENSP00000350896:S575L	S	-	2	0	EPHB4	100249242	1.000000	0.71417	0.880000	0.34516	0.691000	0.40173	4.102000	0.57776	2.577000	0.86979	0.655000	0.94253	TCG		0.493	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
ACHE	43	broad.mit.edu	37	7	100490005	100490005	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100490005T>G	ENST00000412389.1	-	2	1658	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ACHE_ENST00000241069.5_Missense_Mutation_p.K501N|ACHE_ENST00000302913.4_Missense_Mutation_p.K501N|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.K501N|ACHE_ENST00000428317.1_Missense_Mutation_p.K501N|ACHE_ENST00000419336.2_Missense_Mutation_p.K413N			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	501					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)	p.K501N(1)		large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GGGCGAAGATTTTCTCCTCTG	0.622																																					p.K501N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1503C	7						.						51.0	49.0	50.0					7																	100490005		2203	4300	6503	100327941	SO:0001583	missense	43	exon3				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1503A>C	7.37:g.100490005T>G	ENSP00000394976:p.Lys501Asn		100327941	NM_000665	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	T	1.831	-0.469884	0.04445	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	3.81	1.37	0.22104	Carboxylesterase, type B (1);	0.372421	0.27193	N	0.020498	T	0.50735	0.1633	L	0.53780	1.695	0.09310	N	0.999999	B;B;B	0.34372	0.027;0.451;0.062	B;B;B	0.25614	0.018;0.06;0.062	T	0.32188	-0.9916	10	0.26408	T	0.33	.	6.4117	0.21694	0.0:0.2222:0.0:0.7778	.	413;501;501	P22303-3;P22303-2;P22303	.;.;ACES_HUMAN	N	413;501;501;501;501;501;501	ENSP00000403474:K413N;ENSP00000241069:K501N;ENSP00000414858:K501N;ENSP00000303211:K501N;ENSP00000394976:K501N;ENSP00000404865:K501N	ENSP00000241069:K501N	K	-	3	2	ACHE	100327941	0.000000	0.05858	0.880000	0.34516	0.568000	0.35870	0.071000	0.14594	0.176000	0.19873	0.402000	0.26972	AAA		0.622	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831	
MUC17	140453	broad.mit.edu	37	7	100677216	100677216	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100677216C>A	ENST00000306151.4	+	3	2583	c.2519C>A	c.(2518-2520)tCt>tAt	p.S840Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	840	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S840Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTGAAGTC	0.468																																					p.S840Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2519A	7						.						277.0	276.0	276.0					7																	100677216		2203	4300	6503	100463936	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2519C>A	7.37:g.100677216C>A	ENSP00000302716:p.Ser840Tyr		100463936	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.932	-0.445822	0.04604	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.25	1.25	0.21368	.	.	.	.	.	T	0.04182	0.0116	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.46261	-0.9204	9	0.66056	D	0.02	.	8.4246	0.32720	0.0:1.0:0.0:0.0	.	840	Q685J3	MUC17_HUMAN	Y	840	ENSP00000302716:S840Y	ENSP00000302716:S840Y	S	+	2	0	MUC17	100463936	0.006000	0.16342	0.003000	0.11579	0.008000	0.06430	2.747000	0.47475	1.006000	0.39211	0.196000	0.17591	TCT		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100677393	100677393	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100677393C>A	ENST00000306151.4	+	3	2760	c.2696C>A	c.(2695-2697)tCt>tAt	p.S899Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	899	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S899Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCAATTCTACTGAAGCC	0.507																																					p.S899Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2696A	7						.						304.0	293.0	297.0					7																	100677393		2203	4300	6503	100464113	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2696C>A	7.37:g.100677393C>A	ENSP00000302716:p.Ser899Tyr		100464113	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.169	0.029955	0.08101	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	1.19	1.19	0.21007	.	.	.	.	.	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.50406	-0.8832	9	0.28530	T	0.3	.	8.4004	0.32583	0.0:1.0:0.0:0.0	.	899	Q685J3	MUC17_HUMAN	Y	899	ENSP00000302716:S899Y	ENSP00000302716:S899Y	S	+	2	0	MUC17	100464113	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.238000	0.18004	1.000000	0.39049	0.134000	0.15878	TCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100678532	100678532	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100678532C>A	ENST00000306151.4	+	3	3899	c.3835C>A	c.(3835-3837)Cta>Ata	p.L1279I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1279	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L1279I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGAAGTACTCTATTAACAAG	0.498																																					p.L1279I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3835A	7						.						277.0	267.0	270.0					7																	100678532		2203	4300	6503	100465252	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3835C>A	7.37:g.100678532C>A	ENSP00000302716:p.Leu1279Ile		100465252	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.671	-0.801948	0.02841	.	.	ENSG00000169876	ENST00000306151	T	0.02837	4.14	0.471	-0.942	0.10398	.	.	.	.	.	T	0.01254	0.0041	N	0.03608	-0.345	0.09310	N	1	B	0.23377	0.084	B	0.13407	0.009	T	0.46762	-0.9168	8	0.35671	T	0.21	.	.	.	.	.	1279	Q685J3	MUC17_HUMAN	I	1279	ENSP00000302716:L1279I	ENSP00000302716:L1279I	L	+	1	2	MUC17	100465252	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.497000	0.00969	-0.556000	0.06134	0.134000	0.15878	CTA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100680945	100680945	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100680945C>T	ENST00000306151.4	+	3	6312	c.6248C>T	c.(6247-6249)tCa>tTa	p.S2083L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2083	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S2083L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTGCAACC	0.502																																					p.S2083L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6248T	7						.						172.0	171.0	171.0					7																	100680945		2203	4300	6503	100467665	SO:0001583	missense	140453	exon3			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6248C>T	7.37:g.100680945C>T	ENSP00000302716:p.Ser2083Leu		100467665	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	3.627	-0.076438	0.07184	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.942	-0.252	0.12999	.	.	.	.	.	T	0.01627	0.0052	L	0.29908	0.895	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.48592	-0.9022	9	0.13108	T	0.6	.	5.9269	0.19118	0.3055:0.6945:0.0:0.0	.	2083	Q685J3	MUC17_HUMAN	L	2083	ENSP00000302716:S2083L	ENSP00000302716:S2083L	S	+	2	0	MUC17	100467665	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.049000	0.14099	-0.058000	0.13177	0.134000	0.15878	TCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
TRIM56	81844	broad.mit.edu	37	7	100732537	100732537	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100732537C>T	ENST00000306085.6	+	3	2241	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	648					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F648F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGGGCATTTCGTGGGGTCGG	0.652																																					p.F648F	Ovarian(89;1092 1379 22756 38989 39611)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944T	7						.						100.0	108.0	106.0					7																	100732537		1894	4099	5993	100519257	SO:0001819	synonymous_variant	81844	exon3			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1944C>T	7.37:g.100732537C>T			100519257	NM_030961	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	CCDS43625.1																																																																																				0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
SERPINE1	5054	broad.mit.edu	37	7	100771897	100771897	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100771897G>A	ENST00000223095.4	+	2	380	c.223G>A	c.(223-225)Gga>Aga	p.G75R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G60R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	75				G -> V (in Ref. 7; CAA31208). {ECO:0000305}.	angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G75R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACAACAGGAGGAGAAACCCA	0.582																																					p.G75R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	7						.						54.0	52.0	53.0					7																	100771897		2203	4300	6503	100558617	SO:0001583	missense	5054	exon2			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.223G>A	7.37:g.100771897G>A	ENSP00000223095:p.Gly75Arg		100558617	NM_000602	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106267	0.77096	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	T;T	0.31510	1.49;1.49	5.71	5.71	0.89125	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77127	-0.2702	10	0.87932	D	0	.	17.3615	0.87351	0.0:0.0:1.0:0.0	.	60;75	F8WD53;P05121	.;PAI1_HUMAN	R	75;60;60	ENSP00000223095:G75R;ENSP00000396766:G60R	ENSP00000223095:G75R	G	+	1	0	SERPINE1	100558617	1.000000	0.71417	0.257000	0.24404	0.368000	0.29767	5.802000	0.69122	2.709000	0.92574	0.655000	0.94253	GGA		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
SERPINE1	5054	broad.mit.edu	37	7	100777074	100777074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100777074G>T	ENST00000223095.4	+	5	956	c.799G>T	c.(799-801)Gag>Tag	p.E267*	SERPINE1_ENST00000445463.2_Nonsense_Mutation_p.E252*	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	267					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E267*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTATGAAAAAGAGGTGCCTCT	0.572																																					p.E267X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G799T	7						.						184.0	153.0	164.0					7																	100777074		2203	4300	6503	100563794	SO:0001587	stop_gained	5054	exon5			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.799G>T	7.37:g.100777074G>T	ENSP00000223095:p.Glu267*		100563794	NM_000602	B7Z4S0|F8WD53	Nonsense_Mutation	SNP	ENST00000223095.4	37	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124529	0.77436	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	.	.	.	5.67	2.86	0.33363	.	0.408932	0.26341	N	0.024930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	7.7566	0.28927	0.1383:0.2701:0.5916:0.0	.	.	.	.	X	267;252;44	.	ENSP00000223095:E267X	E	+	1	0	SERPINE1	100563794	0.997000	0.39634	0.126000	0.21872	0.236000	0.25371	1.708000	0.37899	0.323000	0.23307	-1.268000	0.01426	GAG		0.572	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602	
COL26A1	136227	broad.mit.edu	37	7	101063297	101063297	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:101063297C>T	ENST00000397927.3	+	0	411				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.C66C(1)									CGGTGTCCTGCCAGGTGCAGA	0.642																																					p.C66C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	7						.						32.0	41.0	38.0					7																	101063297		2098	4229	6327	100850017			136227	exon2			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063297C>T			100850017	NM_133457	Q32M90	Silent	SNP	ENST00000397927.3	37																																																																																					0.642	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457	
MYL10	93408	broad.mit.edu	37	7	101265464	101265464	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:101265464C>A	ENST00000223167.4	-	5	543	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	122						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.K122N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GTTCCTCGTTCTTGACATTGA	0.597																																					p.K122N	Esophageal Squamous(24;575 709 17516 40384 51639)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G366T	7						.						96.0	79.0	85.0					7																	101265464		2203	4300	6503	101052184	SO:0001583	missense	93408	exon5			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.366G>T	7.37:g.101265464C>A	ENSP00000223167:p.Lys122Asn		101052184	NM_138403		Missense_Mutation	SNP	ENST00000223167.4	37	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709692	0.30322	.	.	ENSG00000106436	ENST00000223167	T	0.78595	-1.19	4.28	2.44	0.29823	EF-hand-like domain (1);	0.246159	0.35013	N	0.003502	T	0.77485	0.4137	L	0.31420	0.93	0.37654	D	0.922513	P	0.46142	0.873	P	0.62014	0.897	T	0.75357	-0.3346	10	0.37606	T	0.19	.	9.3975	0.38412	0.0:0.82:0.0:0.18	.	122	Q9BUA6	MYL10_HUMAN	N	122	ENSP00000223167:K122N	ENSP00000223167:K122N	K	-	3	2	MYL10	101052184	1.000000	0.71417	0.988000	0.46212	0.021000	0.10359	0.876000	0.28092	0.382000	0.24878	0.460000	0.39030	AAG		0.597	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403	
CUX1	1523	broad.mit.edu	37	7	101925170	101925170	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:101925170C>T	ENST00000437600.4	+	21	2206	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	CUX1_ENST00000393824.3_Silent_p.I581I|CUX1_ENST00000425244.2_Silent_p.I574I|CUX1_ENST00000547394.2_Silent_p.I604I|CUX1_ENST00000292538.4_Silent_p.I620I|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.I620I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCGCACCATCGGCTTCTTCT	0.652																																					p.I618I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1854T	7						.						100.0	75.0	84.0					7																	101925170		2203	4300	6503	101711890	SO:0001819	synonymous_variant	1523	exon21			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1854C>T	7.37:g.101925170C>T			101711890	NM_181500	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000437600.4	37	CCDS47672.1																																																																																				0.652	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913	
FBXL13	222235	broad.mit.edu	37	7	102518869	102518869	+	Missense_Mutation	SNP	G	G	T	rs199732318		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:102518869G>T	ENST00000313221.4	-	15	1843	c.1417C>A	c.(1417-1419)Ctt>Att	p.L473I	FBXL13_ENST00000436908.1_Missense_Mutation_p.L473I|FBXL13_ENST00000455112.2_Missense_Mutation_p.L473I|FBXL13_ENST00000379308.3_Missense_Mutation_p.L473I|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.L473I|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.L473I	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	473								p.L473I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGACCATCAAGAAATTGCTTT	0.343																																					p.L473I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417A	7						.	G	ILE/LEU,ILE/LEU	0,4406		0,0,2203	107.0	97.0	100.0		1417,1417	3.5	1.0	7		100	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FBXL13	NM_001111038.1,NM_145032.3	5,5	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign,benign	473/691,473/736	102518869	2,13004	2203	4300	6503	102306105	SO:0001583	missense	222235	exon15			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1417C>A	7.37:g.102518869G>T	ENSP00000321927:p.Leu473Ile		102306105	NM_001111038	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	CCDS5726.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.40	1.925894	0.34002	0.0	2.33E-4	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.54279	4.44;0.6;4.44;0.58;0.58;0.6	5.38	3.55	0.40652	.	0.265332	0.30869	N	0.008716	T	0.43166	0.1235	L	0.38953	1.18	0.80722	D	1	B;P;B	0.52842	0.346;0.956;0.118	B;P;B	0.47044	0.335;0.535;0.141	T	0.25537	-1.0129	10	0.35671	T	0.21	.	6.3781	0.21519	0.1715:0.1935:0.635:0.0	.	473;473;473	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	I	473;473;194;473;473;473;473	ENSP00000377367:L473I;ENSP00000368610:L473I;ENSP00000368607:L473I;ENSP00000388608:L473I;ENSP00000321927:L473I;ENSP00000391550:L473I	ENSP00000321927:L473I	L	-	1	0	FBXL13	102306105	0.997000	0.39634	0.998000	0.56505	0.858000	0.48976	0.366000	0.20365	1.266000	0.44231	0.655000	0.94253	CTT		0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032	
LRRC17	10234	broad.mit.edu	37	7	102584932	102584932	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:102584932A>C	ENST00000339431.4	+	4	1499	c.1204A>C	c.(1204-1206)Aaa>Caa	p.K402Q	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000393772.2_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	402	LRRCT 2.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.K402Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGAATGCCCCAAAGACAAGTT	0.393																																					p.K402Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1204C	7						.						90.0	85.0	87.0					7																	102584932		2203	4300	6503	102372168	SO:0001583	missense	10234	exon4			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1204A>C	7.37:g.102584932A>C	ENSP00000344242:p.Lys402Gln		102372168	NM_001031692	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550653	0.86127	.	.	ENSG00000128606	ENST00000339431	T	0.60424	0.19	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000013	T	0.44477	0.1295	N	0.24115	0.695	0.80722	D	1	P	0.45902	0.868	B	0.39876	0.312	T	0.37911	-0.9685	10	0.27082	T	0.32	-24.8285	16.1303	0.81428	1.0:0.0:0.0:0.0	.	402	Q8N6Y2	LRC17_HUMAN	Q	402	ENSP00000344242:K402Q	ENSP00000344242:K402Q	K	+	1	0	LRRC17	102372168	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.421000	0.66447	2.218000	0.71995	0.533000	0.62120	AAA		0.393	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
NAPEPLD	222236	broad.mit.edu	37	7	102760469	102760469	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:102760469G>A	ENST00000417955.1	-	3	650	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	NAPEPLD_ENST00000427257.1_Missense_Mutation_p.R166C|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.R166C|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.R239C|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.R166C			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	166					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.R166C(2)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGAACGACGAAATCGCTTT	0.473																																					p.R166C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C496T	7						.						200.0	171.0	180.0					7																	102760469		2203	4300	6503	102547705	SO:0001583	missense	222236	exon3			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.496C>T	7.37:g.102760469G>A	ENSP00000407112:p.Arg166Cys		102547705	NM_198990	Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178881	0.57692	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.38	5.93	4.12	0.48240	.	0.045078	0.85682	N	0.000000	D	0.92512	0.7622	M	0.72576	2.205	0.80722	D	1	B;B	0.33022	0.394;0.072	B;B	0.36244	0.22;0.052	D	0.90344	0.4361	10	0.48119	T	0.1	-35.9257	13.5805	0.61901	0.1144:0.0:0.8856:0.0	.	239;166	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	C	166;166;166;166;239	ENSP00000340093:R166C;ENSP00000407112:R166C;ENSP00000419188:R166C;ENSP00000392775:R166C;ENSP00000414364:R239C	ENSP00000340093:R166C	R	-	1	0	NAPEPLD	102547705	1.000000	0.71417	0.031000	0.17742	0.908000	0.53690	3.762000	0.55250	0.840000	0.34995	0.591000	0.81541	CGT		0.473	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990	
SLC26A5	375611	broad.mit.edu	37	7	103038399	103038399	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103038399G>A	ENST00000306312.3	-	9	1212	c.951C>T	c.(949-951)gtC>gtT	p.V317V	SLC26A5_ENST00000339444.6_Silent_p.V317V|SLC26A5_ENST00000393727.1_Silent_p.V317V|SLC26A5_ENST00000393735.2_Silent_p.V317V|SLC26A5_ENST00000356767.4_Silent_p.V317V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Silent_p.V317V|SLC26A5_ENST00000393730.1_Silent_p.V317V|SLC26A5_ENST00000393729.1_Silent_p.V280V|SLC26A5_ENST00000432958.2_Silent_p.V317V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	317					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.V317V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GTGTTCCAACGACATCCACAT	0.378																																					p.V317V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	7						.						148.0	130.0	136.0					7																	103038399		2203	4300	6503	102825635	SO:0001819	synonymous_variant	375611	exon9			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.951C>T	7.37:g.103038399G>A			102825635	NM_206884	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.378	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
SLC26A5	375611	broad.mit.edu	37	7	103061222	103061222	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103061222G>T	ENST00000306312.3	-	4	516	c.255C>A	c.(253-255)gtC>gtA	p.V85V	SLC26A5_ENST00000339444.6_Silent_p.V85V|SLC26A5_ENST00000393727.1_Silent_p.V85V|SLC26A5_ENST00000393735.2_Silent_p.V85V|SLC26A5_ENST00000356767.4_Silent_p.V85V|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Silent_p.V85V|SLC26A5_ENST00000393730.1_Silent_p.V85V|SLC26A5_ENST00000393729.1_Silent_p.V85V|SLC26A5_ENST00000432958.2_Silent_p.V85V	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	85					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.V85V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTATGCCTGAGACCAAGTCAC	0.408																																					p.V85V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C255A	7						.						133.0	132.0	132.0					7																	103061222		2203	4300	6503	102848458	SO:0001819	synonymous_variant	375611	exon4			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.255C>A	7.37:g.103061222G>T			102848458	NM_206884	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																				0.408	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
RELN	5649	broad.mit.edu	37	7	103151406	103151406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103151406G>T	ENST00000428762.1	-	51	8325	c.8166C>A	c.(8164-8166)ttC>ttA	p.F2722L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.F2722L|RELN_ENST00000343529.5_Missense_Mutation_p.F2722L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2722					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F2722L(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGAGTCACAGAATCTTTCTA	0.418																																					p.F2722L	NSCLC(146;835 1944 15585 22231 52158)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C8166A	7						.						127.0	104.0	112.0					7																	103151406		2203	4300	6503	102938642	SO:0001583	missense	5649	exon51				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8166C>A	7.37:g.103151406G>T	ENSP00000392423:p.Phe2722Leu		102938642	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719835	0.48728	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.19938	2.11;2.11;2.11	5.65	2.85	0.33270	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.64404	1.975	0.47778	D	0.999512	D;B	0.76494	0.999;0.077	D;B	0.81914	0.995;0.056	T	0.06588	-1.0818	10	0.39692	T	0.17	.	10.4919	0.44756	0.2852:0.0:0.7148:0.0	.	2722;2722	P78509-2;P78509	.;RELN_HUMAN	L	2722;2722;2722;239;2722	ENSP00000392423:F2722L;ENSP00000345694:F2722L;ENSP00000388446:F2722L	ENSP00000345694:F2722L	F	-	3	2	RELN	102938642	1.000000	0.71417	0.997000	0.53966	0.201000	0.24016	4.579000	0.60936	0.743000	0.32719	-0.148000	0.13756	TTC		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103183303	103183303	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103183303G>T	ENST00000428762.1	-	43	6705	c.6546C>A	c.(6544-6546)ttC>ttA	p.F2182L	RELN_ENST00000343529.5_Missense_Mutation_p.F2182L|RELN_ENST00000424685.2_Missense_Mutation_p.F2182L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2182					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F2182L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCATTAATAAGAATCTATCAG	0.363																																					p.F2182L	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6546A	7						.						79.0	80.0	80.0					7																	103183303		2203	4300	6503	102970539	SO:0001583	missense	5649	exon43				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6546C>A	7.37:g.103183303G>T	ENSP00000392423:p.Phe2182Leu		102970539	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633927	0.67130	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.32272	1.46;1.46;1.46	5.79	3.99	0.46301	Neuraminidase (1);	0.111902	0.64402	D	0.000007	T	0.43389	0.1245	L	0.44542	1.39	0.48087	D	0.999588	D;D	0.89917	1.0;0.998	D;D	0.73380	0.98;0.939	T	0.29212	-1.0019	10	0.72032	D	0.01	.	8.7515	0.34618	0.2845:0.0:0.7155:0.0	.	2182;2182	P78509-2;P78509	.;RELN_HUMAN	L	2182	ENSP00000392423:F2182L;ENSP00000345694:F2182L;ENSP00000388446:F2182L	ENSP00000345694:F2182L	F	-	3	2	RELN	102970539	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.420000	0.52735	0.785000	0.33685	0.591000	0.81541	TTC		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103194238	103194238	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103194238G>A	ENST00000428762.1	-	39	5997	c.5838C>T	c.(5836-5838)atC>atT	p.I1946I	RELN_ENST00000343529.5_Silent_p.I1946I|RELN_ENST00000424685.2_Silent_p.I1946I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1946					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.I1946I(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATTTCCATCGATAATGAAGT	0.363																																					p.I1946I	NSCLC(146;835 1944 15585 22231 52158)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C5838T	7						.						151.0	142.0	145.0					7																	103194238		2203	4300	6503	102981474	SO:0001819	synonymous_variant	5649	exon39				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5838C>T	7.37:g.103194238G>A			102981474	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103198423	103198423	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103198423A>C	ENST00000428762.1	-	37	5762	c.5603T>G	c.(5602-5604)tTt>tGt	p.F1868C	RELN_ENST00000343529.5_Missense_Mutation_p.F1868C|RELN_ENST00000424685.2_Missense_Mutation_p.F1868C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1868					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F1868C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTTGCTATAAATCTAAGTGA	0.318																																					p.F1868C	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5603G	7						.						60.0	62.0	61.0					7																	103198423		2197	4286	6483	102985659	SO:0001583	missense	5649	exon37				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5603T>G	7.37:g.103198423A>C	ENSP00000392423:p.Phe1868Cys		102985659	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435175	0.62955	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.31769	1.48;1.48;1.48	5.77	4.62	0.57501	Neuraminidase (1);	0.052456	0.85682	D	0.000000	T	0.49949	0.1587	L	0.60455	1.87	0.50632	D	0.999883	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.51020	-0.8758	10	0.87932	D	0	.	11.9144	0.52757	0.9321:0.0:0.0679:0.0	.	1868;1868	P78509-2;P78509	.;RELN_HUMAN	C	1868	ENSP00000392423:F1868C;ENSP00000345694:F1868C;ENSP00000388446:F1868C	ENSP00000345694:F1868C	F	-	2	0	RELN	102985659	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	1.125000	0.41998	0.533000	0.62120	TTT		0.318	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103202398	103202398	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103202398G>T	ENST00000428762.1	-	35	5372	c.5213C>A	c.(5212-5214)tCt>tAt	p.S1738Y	RELN_ENST00000343529.5_Missense_Mutation_p.S1738Y|RELN_ENST00000424685.2_Missense_Mutation_p.S1738Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1738					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1738Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCCTGGGAGAACTAACCAA	0.433																																					p.S1738Y	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5213A	7						.						38.0	32.0	34.0					7																	103202398		2203	4300	6503	102989634	SO:0001583	missense	5649	exon35				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5213C>A	7.37:g.103202398G>T	ENSP00000392423:p.Ser1738Tyr		102989634	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603329	0.87157	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.27104	1.69;1.69;1.69	5.78	5.78	0.91487	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.988	T	0.61715	-0.7006	10	0.87932	D	0	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	1738;1738	P78509-2;P78509	.;RELN_HUMAN	Y	1738	ENSP00000392423:S1738Y;ENSP00000345694:S1738Y;ENSP00000388446:S1738Y	ENSP00000345694:S1738Y	S	-	2	0	RELN	102989634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.209000	0.95087	2.744000	0.94065	0.563000	0.77884	TCT		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103205756	103205756	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103205756G>A	ENST00000428762.1	-	34	5338	c.5179C>T	c.(5179-5181)Cgg>Tgg	p.R1727W	RELN_ENST00000343529.5_Missense_Mutation_p.R1727W|RELN_ENST00000424685.2_Missense_Mutation_p.R1727W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R1727W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGTGATCCGCTTCCAATTC	0.438																																					p.R1727W	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5179T	7						.						123.0	111.0	115.0					7																	103205756		2203	4300	6503	102992992	SO:0001583	missense	5649	exon34				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5179C>T	7.37:g.103205756G>A	ENSP00000392423:p.Arg1727Trp		102992992	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381839	0.82792	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.55588	1.31;0.51;1.31	6.02	4.09	0.47781	Neuraminidase (1);	0.053048	0.64402	D	0.000001	T	0.73760	0.3628	M	0.84585	2.705	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.78889	-0.2026	10	0.87932	D	0	.	12.891	0.58071	0.0:0.0:0.4962:0.5038	.	1727;1727	P78509-2;P78509	.;RELN_HUMAN	W	1727	ENSP00000392423:R1727W;ENSP00000345694:R1727W;ENSP00000388446:R1727W	ENSP00000345694:R1727W	R	-	1	2	RELN	102992992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.045000	0.49838	1.518000	0.48934	0.655000	0.94253	CGG		0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103207092	103207092	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103207092G>A	ENST00000428762.1	-	32	4862	c.4703C>T	c.(4702-4704)gCg>gTg	p.A1568V	RELN_ENST00000343529.5_Missense_Mutation_p.A1568V|RELN_ENST00000424685.2_Missense_Mutation_p.A1568V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1568					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A1568V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGTCTTCGCGTCCTGTGG	0.468																																					p.A1568V	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4703T	7						.						117.0	101.0	106.0					7																	103207092		2203	4300	6503	102994328	SO:0001583	missense	5649	exon32				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4703C>T	7.37:g.103207092G>A	ENSP00000392423:p.Ala1568Val		102994328	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128338	0.94473	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.34072	1.38;1.38;1.38	5.95	5.95	0.96441	.	0.053931	0.64402	D	0.000001	T	0.49795	0.1578	M	0.80332	2.49	0.58432	D	0.999998	D;D	0.63880	0.993;0.992	P;B	0.44518	0.452;0.266	T	0.58940	-0.7547	10	0.87932	D	0	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	1568;1568	P78509-2;P78509	.;RELN_HUMAN	V	1568	ENSP00000392423:A1568V;ENSP00000345694:A1568V;ENSP00000388446:A1568V	ENSP00000345694:A1568V	A	-	2	0	RELN	102994328	1.000000	0.71417	0.975000	0.42487	0.881000	0.50899	9.189000	0.94928	2.826000	0.97356	0.491000	0.48974	GCG		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103230147	103230147	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103230147G>A	ENST00000428762.1	-	28	4200	c.4041C>T	c.(4039-4041)tgC>tgT	p.C1347C	RELN_ENST00000343529.5_Silent_p.C1347C|RELN_ENST00000424685.2_Silent_p.C1347C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1347					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.C1347C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTTTCCTTCGCATCCTTTGC	0.473																																					p.C1347C	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4041T	7						.						197.0	175.0	183.0					7																	103230147		2203	4300	6503	103017383	SO:0001819	synonymous_variant	5649	exon28				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4041C>T	7.37:g.103230147G>A			103017383	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103293089	103293089	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103293089A>G	ENST00000428762.1	-	14	1831	c.1672T>C	c.(1672-1674)Ttc>Ctc	p.F558L	RELN_ENST00000343529.5_Missense_Mutation_p.F558L|RELN_ENST00000424685.2_Missense_Mutation_p.F558L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	558					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.F558L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGACATGGAAAAAGTCTACA	0.443																																					p.F558L	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1672C	7						.						159.0	155.0	157.0					7																	103293089		2203	4300	6503	103080325	SO:0001583	missense	5649	exon14				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1672T>C	7.37:g.103293089A>G	ENSP00000392423:p.Phe558Leu		103080325	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374641	0.42105	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.19394	2.16;2.15;2.16	5.67	5.67	0.87782	.	0.096403	0.64402	D	0.000001	T	0.15132	0.0365	L	0.27053	0.805	0.36774	D	0.883946	B;B	0.20780	0.037;0.048	B;B	0.18561	0.022;0.022	T	0.16100	-1.0414	10	0.24483	T	0.36	.	12.1139	0.53854	0.8569:0.1431:0.0:0.0	.	558;558	P78509-2;P78509	.;RELN_HUMAN	L	558	ENSP00000392423:F558L;ENSP00000345694:F558L;ENSP00000388446:F558L	ENSP00000345694:F558L	F	-	1	0	RELN	103080325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.288000	0.76882	0.533000	0.62120	TTC		0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
LHFPL3	375612	broad.mit.edu	37	7	103969335	103969335	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:103969335C>T	ENST00000401970.2	+	1	188	c.66C>T	c.(64-66)atC>atT	p.I22I	LHFPL3_ENST00000424859.1_Silent_p.I22I|LHFPL3_ENST00000543266.1_Silent_p.I36I|LHFPL3_ENST00000535008.1_Silent_p.I36I			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	36						integral component of membrane (GO:0016021)		p.I36I(1)		kidney(1)|large_intestine(2)|lung(6)	9						CGCGGGCCATCGGCGTGCTGT	0.672																																					p.I36I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	7						.						65.0	78.0	74.0					7																	103969335		2201	4300	6501	103756571	SO:0001819	synonymous_variant	375612	exon1			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.66C>T	7.37:g.103969335C>T			103756571	NM_199000	A1L383|A4D0Q5	Silent	SNP	ENST00000401970.2	37																																																																																					0.672	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000	
KMT2E	55904	broad.mit.edu	37	7	104717764	104717764	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104717764G>T	ENST00000311117.3	+	11	1559	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	KMT2E_ENST00000334877.4_Missense_Mutation_p.K338N|KMT2E_ENST00000257745.4_Missense_Mutation_p.K338N|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.K338N	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	338	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K338N(1)									ATATACAAAAGAATAAGAAAA	0.294																																					p.K338N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1014T	7						.						32.0	34.0	34.0					7																	104717764		2200	4292	6492	104505000	SO:0001583	missense	55904	exon11			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1014G>T	7.37:g.104717764G>T	ENSP00000312379:p.Lys338Asn		104505000	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278460	0.40294	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	D;D;D;D;D	0.95918	-2.99;-2.62;-2.99;-3.85;-3.34	5.62	4.66	0.58398	SET domain (1);	0.046412	0.85682	D	0.000000	D	0.95974	0.8689	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.78314	0.991;0.974	D	0.95085	0.8217	10	0.59425	D	0.04	.	7.687	0.28546	0.2777:0.0:0.7223:0.0	.	338;338	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	N	338;338;338;338;338;196;338;272	ENSP00000312379:K338N;ENSP00000335599:K338N;ENSP00000257745:K338N;ENSP00000419883:K196N;ENSP00000417888:K338N	ENSP00000257745:K338N	K	+	3	2	MLL5	104505000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.869000	0.48444	1.170000	0.42753	0.655000	0.94253	AAG		0.294	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104746355	104746355	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104746355G>T	ENST00000311117.3	+	19	3046	c.2501G>T	c.(2500-2502)aGa>aTa	p.R834I	KMT2E_ENST00000334877.4_Missense_Mutation_p.R834I|KMT2E_ENST00000257745.4_Missense_Mutation_p.R834I|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	834					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R834I(1)									ATTTTACATAGATTTAATTCA	0.363																																					p.R834I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2501T	7						.						83.0	89.0	87.0					7																	104746355		2202	4300	6502	104533591	SO:0001583	missense	55904	exon19			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2501G>T	7.37:g.104746355G>T	ENSP00000312379:p.Arg834Ile		104533591	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728651	0.30593	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.91740	-2.9;-2.54;-2.9	5.81	3.67	0.42095	.	0.204155	0.46758	D	0.000273	D	0.84456	0.5476	L	0.34521	1.04	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.78026	-0.2365	10	0.35671	T	0.21	.	5.3875	0.16226	0.1173:0.1288:0.622:0.132	.	834	Q8IZD2	MLL5_HUMAN	I	834;834;834;754;834	ENSP00000312379:R834I;ENSP00000335599:R834I;ENSP00000257745:R834I	ENSP00000257745:R834I	R	+	2	0	MLL5	104533591	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.572000	0.53849	1.440000	0.47531	0.655000	0.94253	AGA		0.363	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104747133	104747133	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104747133G>T	ENST00000311117.3	+	20	3306	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	KMT2E_ENST00000334877.4_Nonsense_Mutation_p.E921*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.E921*|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	921					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E921*(1)									ATCAGATGATGAAACTTGTAG	0.433																																					p.E921X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2761T	7						.						136.0	141.0	140.0					7																	104747133		2203	4300	6503	104534369	SO:0001587	stop_gained	55904	exon20			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2761G>T	7.37:g.104747133G>T	ENSP00000312379:p.Glu921*		104534369	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191776	0.99355	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	.	.	.	5.1	5.1	0.69264	.	0.147654	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5067	0.90900	0.0:0.0:1.0:0.0	.	.	.	.	X	921;921;921;841;921	.	ENSP00000257745:E921X	E	+	1	0	MLL5	104534369	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.778000	0.75043	2.374000	0.81015	0.585000	0.79938	GAA		0.433	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104747620	104747620	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104747620C>A	ENST00000311117.3	+	21	3400	c.2855C>A	c.(2854-2856)tCt>tAt	p.S952Y	KMT2E_ENST00000334877.4_Missense_Mutation_p.S952Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.S952Y|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_Missense_Mutation_p.S7Y	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	952					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S952Y(1)									CAGAATATTTCTTCCCCAGAA	0.254																																					p.S952Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2855A	7						.						40.0	44.0	43.0					7																	104747620		2095	4230	6325	104534856	SO:0001583	missense	55904	exon21			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2855C>A	7.37:g.104747620C>A	ENSP00000312379:p.Ser952Tyr		104534856	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232734	0.79688	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.94576	-3.46;-2.92;-3.46;0.28	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000014	D	0.95730	0.8611	L	0.34521	1.04	0.54753	D	0.999983	D	0.71674	0.998	D	0.78314	0.991	D	0.96008	0.8999	10	0.66056	D	0.02	.	19.6958	0.96026	0.0:1.0:0.0:0.0	.	952	Q8IZD2	MLL5_HUMAN	Y	952;952;952;872;952;7	ENSP00000312379:S952Y;ENSP00000335599:S952Y;ENSP00000257745:S952Y;ENSP00000333986:S7Y	ENSP00000257745:S952Y	S	+	2	0	MLL5	104534856	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.970000	0.70431	2.748000	0.94277	0.591000	0.81541	TCT		0.254	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104747950	104747950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104747950G>T	ENST00000311117.3	+	22	3591	c.3046G>T	c.(3046-3048)Gaa>Taa	p.E1016*	KMT2E_ENST00000334877.4_Nonsense_Mutation_p.E1016*|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.E1016*|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_Nonsense_Mutation_p.E71*	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1016					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1016*(1)									GTGTCCTGGAGAAAAGGAACC	0.473																																					p.E1016X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3046T	7						.						97.0	98.0	98.0					7																	104747950		2203	4300	6503	104535186	SO:0001587	stop_gained	55904	exon22			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3046G>T	7.37:g.104747950G>T	ENSP00000312379:p.Glu1016*		104535186	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Nonsense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	57	29.144492	0.99975	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	.	.	.	6.03	6.03	0.97812	.	0.135877	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	1016;1016;1016;936;1016;71	.	ENSP00000257745:E1016X	E	+	1	0	MLL5	104535186	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.611000	0.67674	2.854000	0.98071	0.655000	0.94253	GAA		0.473	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104748203	104748203	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104748203G>A	ENST00000311117.3	+	22	3844	c.3299G>A	c.(3298-3300)cGa>cAa	p.R1100Q	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Missense_Mutation_p.R1100Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1100Q|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_Missense_Mutation_p.R155Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1100					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1100Q(1)									GGAGGCTTCCGAATAAGTGAG	0.473																																					p.R1100Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3299A	7						.						91.0	89.0	89.0					7																	104748203		2203	4300	6503	104535439	SO:0001583	missense	55904	exon22			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3299G>A	7.37:g.104748203G>A	ENSP00000312379:p.Arg1100Gln		104535439	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993480	0.93167	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.95821	-3.82;-3.1;-3.82;-0.12	5.85	5.85	0.93711	.	0.160745	0.40144	N	0.001167	D	0.91157	0.7215	L	0.34521	1.04	0.43122	D	0.994849	P	0.40107	0.703	B	0.23716	0.048	D	0.91184	0.4978	10	0.49607	T	0.09	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	1100	Q8IZD2	MLL5_HUMAN	Q	1100;1100;1100;1020;1100;155	ENSP00000312379:R1100Q;ENSP00000335599:R1100Q;ENSP00000257745:R1100Q;ENSP00000333986:R155Q	ENSP00000257745:R1100Q	R	+	2	0	MLL5	104535439	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	6.540000	0.73861	2.753000	0.94483	0.655000	0.94253	CGA		0.473	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104750798	104750798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104750798G>A	ENST00000311117.3	+	24	4372	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Missense_Mutation_p.R1276Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1276Q|KMT2E_ENST00000334914.7_Missense_Mutation_p.R331Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1276					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1276Q(1)									AGTGATCACCGAAAAGATAAA	0.398																																					p.R1276Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3827A	7						.						131.0	135.0	134.0					7																	104750798		2203	4300	6503	104538034	SO:0001583	missense	55904	exon24			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3827G>A	7.37:g.104750798G>A	ENSP00000312379:p.Arg1276Gln		104538034	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317638	0.95682	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.94793	-3.52;-2.84;-3.52;0.09	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000016	D	0.93141	0.7816	L	0.32530	0.975	0.47476	D	0.999435	D	0.67145	0.996	P	0.53006	0.715	D	0.90694	0.4615	10	0.11794	T	0.64	.	18.8917	0.92407	0.0:0.0:1.0:0.0	.	1276	Q8IZD2	MLL5_HUMAN	Q	1276;1276;1276;1196;1276;331	ENSP00000312379:R1276Q;ENSP00000335599:R1276Q;ENSP00000257745:R1276Q;ENSP00000333986:R331Q	ENSP00000257745:R1276Q	R	+	2	0	MLL5	104538034	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	8.569000	0.90744	2.468000	0.83385	0.561000	0.74099	CGA		0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
SRPK2	6733	broad.mit.edu	37	7	104844078	104844078	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104844078T>C	ENST00000393651.3	-	3	313	c.226A>G	c.(226-228)Aaa>Gaa	p.K76E	SRPK2_ENST00000489828.1_Missense_Mutation_p.K65E|SRPK2_ENST00000357311.3_Missense_Mutation_p.K65E	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.K65E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ACATCACCTTTGCAGTAGTCC	0.582																																					p.K65E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A193G	7						.						148.0	121.0	130.0					7																	104844078		2203	4300	6503	104631314	SO:0001583	missense	6733	exon2			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.226A>G	7.37:g.104844078T>C	ENSP00000377262:p.Lys76Glu		104631314	NM_182691		Missense_Mutation	SNP	ENST00000393651.3	37	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125377	0.56721	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.32515	1.45;1.47;1.47;3.35;2.9	6.04	4.89	0.63831	.	0.050786	0.85682	N	0.000000	T	0.27765	0.0683	L	0.48260	1.515	0.58432	D	0.999994	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.04708	-1.0932	10	0.62326	D	0.03	.	10.5688	0.45188	0.0:0.0732:0.0:0.9268	.	76;65	P78362-2;P78362	.;SRPK2_HUMAN	E	76;65;65;113;65	ENSP00000377262:K76E;ENSP00000349863:K65E;ENSP00000419791:K65E;ENSP00000419240:K113E;ENSP00000417357:K65E	ENSP00000349863:K65E	K	-	1	0	SRPK2	104631314	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	7.348000	0.79366	1.111000	0.41721	-0.379000	0.06801	AAA		0.582	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
SRPK2	6733	broad.mit.edu	37	7	104909273	104909273	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:104909273C>A	ENST00000357311.3	-	1	189	c.18G>T	c.(16-18)gaG>gaT	p.E6D	SRPK2_ENST00000393651.3_Intron|SRPK2_ENST00000489828.1_Missense_Mutation_p.E6D	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1			SRSF protein kinase 2									p.E6D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGGACGACTTCTCAGAGTTAA	0.383																																					p.E6D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18T	7						.						117.0	106.0	109.0					7																	104909273		2203	4300	6503	104696509	SO:0001583	missense	6733	exon1			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000357311.3:c.18G>T	7.37:g.104909273C>A	ENSP00000349863:p.Glu6Asp		104696509	NM_182691		Intron	SNP	ENST00000357311.3	37	CCDS5735.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507658	0.44558	.	.	ENSG00000135250	ENST00000357311;ENST00000489828;ENST00000460391	T;T;T	0.31769	1.48;1.48;2.93	5.5	5.5	0.81552	.	.	.	.	.	T	0.33818	0.0876	N	0.08118	0	0.35320	D	0.784659	P	0.52842	0.956	P	0.62184	0.899	T	0.40175	-0.9577	9	0.25106	T	0.35	.	18.741	0.91773	0.0:1.0:0.0:0.0	.	6	P78362	SRPK2_HUMAN	D	6	ENSP00000349863:E6D;ENSP00000419791:E6D;ENSP00000417357:E6D	ENSP00000349863:E6D	E	-	3	2	SRPK2	104696509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.698000	0.54771	2.734000	0.93682	0.650000	0.86243	GAG		0.383	SRPK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348716.1	NM_182691	
PUS7	54517	broad.mit.edu	37	7	105105785	105105785	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:105105785G>A	ENST00000356362.2	-	13	1816	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	PUS7_ENST00000469408.1_Silent_p.F534F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	534	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.F534F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						AGATAACATCGAAACCAGGCA	0.343																																					p.F534F	Colon(138;2387 3051 17860)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1602T	7						.						116.0	106.0	110.0					7																	105105785		2203	4300	6503	104893021	SO:0001819	synonymous_variant	54517	exon13			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1602C>T	7.37:g.105105785G>A			104893021	NM_019042	Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	CCDS34725.1																																																																																				0.343	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
PUS7	54517	broad.mit.edu	37	7	105131992	105131992	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:105131992A>C	ENST00000356362.2	-	7	1129	c.915T>G	c.(913-915)gtT>gtG	p.V305V	PUS7_ENST00000469408.1_Silent_p.V305V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	305					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.V305V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTACTTGAGAACAGCAATTT	0.378																																					p.V305V	Colon(138;2387 3051 17860)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T915G	7						.						145.0	129.0	134.0					7																	105131992		2203	4300	6503	104919228	SO:0001819	synonymous_variant	54517	exon7			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.915T>G	7.37:g.105131992A>C			104919228	NM_019042	Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	CCDS34725.1																																																																																				0.378	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	
RINT1	60561	broad.mit.edu	37	7	105195543	105195543	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:105195543G>T	ENST00000257700.2	+	11	1771	c.1540G>T	c.(1540-1542)Gat>Tat	p.D514Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	514	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.D514Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTTAGTAGATGATTTTAG	0.388																																					p.D514Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1540T	7						.						146.0	146.0	146.0					7																	105195543		2203	4300	6503	104982779	SO:0001583	missense	60561	exon11			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1540G>T	7.37:g.105195543G>T	ENSP00000257700:p.Asp514Tyr		104982779	NM_021930	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969326	0.92855	.	.	ENSG00000135249	ENST00000257700	T	0.35421	1.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65134	-0.6242	10	0.66056	D	0.02	-26.117	20.5373	0.99239	0.0:0.0:1.0:0.0	.	514	Q6NUQ1	RINT1_HUMAN	Y	514	ENSP00000257700:D514Y	ENSP00000257700:D514Y	D	+	1	0	RINT1	104982779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.606000	0.90888	2.857000	0.98124	0.650000	0.86243	GAT		0.388	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	
CDHR3	222256	broad.mit.edu	37	7	105671275	105671275	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:105671275C>T	ENST00000317716.9	+	18	2422	c.2342C>T	c.(2341-2343)gCc>gTc	p.A781V	CDHR3_ENST00000542731.1_Missense_Mutation_p.A781V|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.A693V	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	781					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A781V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GATGGAGAAGCCATAGATCCA	0.408																																					p.A781V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2342T	7						.						123.0	118.0	120.0					7																	105671275		1924	4135	6059	105458511	SO:0001583	missense	222256	exon18			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2342C>T	7.37:g.105671275C>T	ENSP00000325954:p.Ala781Val		105458511	NM_152750	Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789194	0.49997	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.67171	-0.25;-0.22;-0.22	5.48	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.81555	0.4847	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.83225	-0.0066	10	0.87932	D	0	-17.7751	17.4033	0.87466	0.0:0.9332:0.0:0.0668	.	768;781	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	V	781;781;693	ENSP00000439766:A781V;ENSP00000325954:A781V;ENSP00000417771:A693V	ENSP00000325954:A781V	A	+	2	0	CDHR3	105458511	0.997000	0.39634	0.883000	0.34634	0.416000	0.31233	3.804000	0.55568	0.688000	0.31529	-1.134000	0.01955	GCC		0.408	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
PIK3CG	5294	broad.mit.edu	37	7	106508721	106508721	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:106508721G>A	ENST00000359195.3	+	2	1025	c.715G>A	c.(715-717)Gac>Aac	p.D239N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D239N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D239N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	239	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D239N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCACCCGACGACACCCCCGG	0.537																																					p.D239N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	7						.						89.0	94.0	92.0					7																	106508721		2203	4300	6503	106295957	SO:0001583	missense	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.715G>A	7.37:g.106508721G>A	ENSP00000352121:p.Asp239Asn		106295957	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842888	0.32606	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.5	5.5	0.81552	Phosphoinositide 3-kinase, ras-binding (2);	0.043367	0.85682	D	0.000000	T	0.69342	0.3100	M	0.66939	2.045	0.80722	D	1	P	0.37207	0.587	B	0.34385	0.181	T	0.67473	-0.5662	10	0.23891	T	0.37	-33.7791	19.7537	0.96281	0.0:0.0:1.0:0.0	.	239	P48736	PK3CG_HUMAN	N	239	ENSP00000392258:D239N;ENSP00000419260:D239N;ENSP00000352121:D239N	ENSP00000352121:D239N	D	+	1	0	PIK3CG	106295957	1.000000	0.71417	0.953000	0.39169	0.183000	0.23260	7.799000	0.85936	2.736000	0.93811	0.591000	0.81541	GAC		0.537	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PIK3CG	5294	broad.mit.edu	37	7	106513010	106513010	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:106513010G>A	ENST00000359195.3	+	3	2334	c.2024G>A	c.(2023-2025)aGc>aAc	p.S675N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S675N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S675N	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	675	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S675N(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TACCATGATAGCGCCCTTGCC	0.398																																					p.S675N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2024A	7						.						207.0	197.0	200.0					7																	106513010		2203	4300	6503	106300246	SO:0001583	missense	5294	exon3				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2024G>A	7.37:g.106513010G>A	ENSP00000352121:p.Ser675Asn		106300246	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883098	0.72410	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70749	-0.51;-0.51;-0.51	5.62	5.62	0.85841	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	M	0.63208	1.945	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.80256	-0.1458	10	0.41790	T	0.15	-19.2247	20.024	0.97514	0.0:0.0:1.0:0.0	.	675	P48736	PK3CG_HUMAN	N	675	ENSP00000392258:S675N;ENSP00000419260:S675N;ENSP00000352121:S675N	ENSP00000352121:S675N	S	+	2	0	PIK3CG	106300246	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.420000	0.97426	2.809000	0.96659	0.655000	0.94253	AGC		0.398	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PIK3CG	5294	broad.mit.edu	37	7	106526602	106526602	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:106526602C>T	ENST00000359195.3	+	10	3205	c.2895C>T	c.(2893-2895)ttC>ttT	p.F965F	PIK3CG_ENST00000440650.2_Silent_p.F965F|PIK3CG_ENST00000496166.1_Silent_p.F965F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	965	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F965F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATATTGACTTCGGGCACATTC	0.388																																					p.F965F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2895T	7						.						109.0	104.0	106.0					7																	106526602		2203	4300	6503	106313838	SO:0001819	synonymous_variant	5294	exon10				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2895C>T	7.37:g.106526602C>T			106313838	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																				0.388	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
HBP1	26959	broad.mit.edu	37	7	106822912	106822912	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:106822912A>C	ENST00000222574.4	+	3	450	c.264A>C	c.(262-264)agA>agC	p.R88S	HBP1_ENST00000468410.1_Missense_Mutation_p.R88S|HBP1_ENST00000485846.1_Missense_Mutation_p.R88S	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	88					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R88S(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AATACCCAAGATCATCTTGGA	0.443																																					p.R88S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A264C	7						.						102.0	89.0	94.0					7																	106822912		2203	4300	6503	106610148	SO:0001583	missense	26959	exon3			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.264A>C	7.37:g.106822912A>C	ENSP00000222574:p.Arg88Ser		106610148	NM_012257	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038078	0.54896	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.98968	-5.28;-5.28;-5.28	5.86	3.53	0.40419	.	0.251282	0.43747	D	0.000539	D	0.94374	0.8191	N	0.19112	0.55	0.42186	D	0.991704	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.11329	0.003;0.006;0.003	D	0.89418	0.3708	10	0.30854	T	0.27	-5.1436	4.5473	0.12087	0.5609:0.0:0.4391:0.0	.	98;88;88	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	S	88;88;88;88;88;88;80	ENSP00000420500:R88S;ENSP00000222574:R88S;ENSP00000418738:R88S	ENSP00000222574:R88S	R	+	3	2	HBP1	106610148	1.000000	0.71417	0.988000	0.46212	0.852000	0.48524	2.332000	0.43903	1.052000	0.40392	0.533000	0.62120	AGA		0.443	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257	
HBP1	26959	broad.mit.edu	37	7	106830716	106830716	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:106830716G>A	ENST00000222574.4	+	8	1207	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	HBP1_ENST00000468410.1_Missense_Mutation_p.D341N|CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000485846.1_Missense_Mutation_p.D341N|HBP1_ENST00000461963.1_Intron	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	341	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.D341N(1)		large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGGACACCCCGATGCCATTAA	0.363																																					p.D341N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021A	7						.						230.0	208.0	215.0					7																	106830716		2203	4300	6503	106617952	SO:0001583	missense	26959	exon8			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1021G>A	7.37:g.106830716G>A	ENSP00000222574:p.Asp341Asn		106617952	NM_012257	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904948	0.92035	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99353	-5.77;-5.77;-5.77	5.37	5.37	0.77165	Ataxin-1/HBP1 module (AXH) (1);	0.045776	0.85682	D	0.000000	D	0.99193	0.9720	L	0.60455	1.87	0.54753	D	0.999989	D;D;D	0.76494	0.976;0.999;0.998	P;D;P	0.66847	0.786;0.947;0.848	D	0.99871	1.1096	10	0.62326	D	0.03	-9.8201	19.1082	0.93305	0.0:0.0:1.0:0.0	.	351;341;341	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	N	341;341;341;333	ENSP00000420500:D341N;ENSP00000222574:D341N;ENSP00000418738:D341N	ENSP00000222574:D341N	D	+	1	0	HBP1	106617952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.817000	0.86213	2.524000	0.85096	0.561000	0.74099	GAT		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257	
COG5	10466	broad.mit.edu	37	7	107053042	107053042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107053042C>A	ENST00000347053.3	-	7	717	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	COG5_ENST00000393603.2_Nonsense_Mutation_p.E223*|COG5_ENST00000297135.3_Nonsense_Mutation_p.E223*|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	223					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E223*(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTATCACTTCTATTCCAGAA	0.328																																					p.E223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G667T	7						.						49.0	49.0	49.0					7																	107053042		2203	4300	6503	106840278	SO:0001587	stop_gained	10466	exon7			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.667G>T	7.37:g.107053042C>A	ENSP00000334703:p.Glu223*		106840278	NM_001161520	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Nonsense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937674	0.92458	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	4.47	4.47	0.54385	.	0.122356	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.2897	17.5112	0.87760	0.0:1.0:0.0:0.0	.	.	.	.	X	223	.	ENSP00000297135:E223X	E	-	1	0	COG5	106840278	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.453000	0.66645	2.190000	0.69967	0.561000	0.74099	GAA		0.328	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		
GPR22	2845	broad.mit.edu	37	7	107114856	107114856	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107114856C>T	ENST00000304402.4	+	3	1694	c.351C>T	c.(349-351)ttC>ttT	p.F117F	COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	117					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F117F(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTTGCTGTTTCCATGAGGCTT	0.383																																					p.F117F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	7						.						119.0	116.0	117.0					7																	107114856		2203	4299	6502	106902092	SO:0001819	synonymous_variant	2845	exon3			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.351C>T	7.37:g.107114856C>T			106902092	NM_005295	O14554	Silent	SNP	ENST00000304402.4	37	CCDS5744.1																																																																																				0.383	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1		
SLC26A4	5172	broad.mit.edu	37	7	107303845	107303845	+	Missense_Mutation	SNP	C	C	T	rs370588279		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107303845C>T	ENST00000265715.3	+	3	493	c.269C>T	c.(268-270)tCg>tTg	p.S90L	SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	90			S -> L (in DFNB4). {ECO:0000269|PubMed:12676893}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.S90L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACGTCATTTCGGGAGTTAGT	0.507									Pendred syndrome																												p.S90L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269T	7	GRCh37	CM030956	SLC26A4	M		.						159.0	129.0	139.0					7																	107303845		2203	4300	6503	107091081	SO:0001583	missense	5172	exon3	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.269C>T	7.37:g.107303845C>T	ENSP00000265715:p.Ser90Leu		107091081	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927841	0.73327	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.92048	-2.96;-2.96	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	D	0.97328	0.9126	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98342	1.0539	10	0.87932	D	0	.	17.9844	0.89152	0.0:1.0:0.0:0.0	.	90	O43511	S26A4_HUMAN	L	90	ENSP00000265715:S90L;ENSP00000394760:S90L	ENSP00000265715:S90L	S	+	2	0	SLC26A4	107091081	1.000000	0.71417	0.851000	0.33527	0.511000	0.34104	6.092000	0.71414	2.655000	0.90218	0.591000	0.81541	TCG		0.507	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
SLC26A4	5172	broad.mit.edu	37	7	107336382	107336382	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107336382T>G	ENST00000265715.3	+	13	1666	c.1442T>G	c.(1441-1443)aTc>aGc	p.I481S	SLC26A4_ENST00000543100.1_Missense_Mutation_p.I50S|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I68S|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I42S	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	481					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I481S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCTAGGTTATCTGGGTGTTT	0.373									Pendred syndrome																												p.I481S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1442G	7						.						228.0	222.0	224.0					7																	107336382		2203	4300	6503	107123618	SO:0001583	missense	5172	exon13	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1442T>G	7.37:g.107336382T>G	ENSP00000265715:p.Ile481Ser		107123618	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611445	0.87258	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.95588	-3.4;-3.75;-3.4;-3.4	6.06	6.06	0.98353	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	M	0.80422	2.495	0.53005	D	0.999965	P;P;P	0.48407	0.89;0.91;0.89	P;P;P	0.50754	0.472;0.628;0.649	D	0.96907	0.9664	10	0.66056	D	0.02	.	16.607	0.84832	0.0:0.0:0.0:1.0	.	42;68;481	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	S	481;42;68;50	ENSP00000265715:I481S;ENSP00000439743:I42S;ENSP00000437427:I68S;ENSP00000441209:I50S	ENSP00000265715:I481S	I	+	2	0	SLC26A4	107123618	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.501000	0.66950	2.319000	0.78375	0.523000	0.50628	ATC		0.373	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
CBLL1	79872	broad.mit.edu	37	7	107389430	107389430	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107389430C>T	ENST00000440859.3	+	2	586	c.119C>T	c.(118-120)cCt>cTt	p.P40L	CBLL1_ENST00000415884.2_Missense_Mutation_p.P40L|CBLL1_ENST00000222597.2_Missense_Mutation_p.P40L	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	40					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P40L(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAAGCGAAACCTGCACCGCGA	0.433																																					p.P40L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	7						.						128.0	129.0	128.0					7																	107389430		2203	4300	6503	107176666	SO:0001583	missense	79872	exon2			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.119C>T	7.37:g.107389430C>T	ENSP00000401277:p.Pro40Leu		107176666	NM_024814	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212806	0.79352	.	.	ENSG00000105879	ENST00000440859;ENST00000222597	T;T	0.30714	1.53;1.52	4.92	4.92	0.64577	.	0.132408	0.52532	D	0.000080	T	0.45276	0.1334	L	0.53249	1.67	0.80722	D	1	D;B	0.57571	0.98;0.042	P;B	0.54856	0.762;0.046	T	0.37361	-0.9709	10	0.45353	T	0.12	.	18.1098	0.89532	0.0:1.0:0.0:0.0	.	40;40	B7ZM03;Q75N03	.;HAKAI_HUMAN	L	40	ENSP00000401277:P40L;ENSP00000222597:P40L	ENSP00000222597:P40L	P	+	2	0	CBLL1	107176666	1.000000	0.71417	0.787000	0.31911	0.871000	0.50021	7.217000	0.77982	2.262000	0.75019	0.467000	0.42956	CCT		0.433	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814	
CBLL1	79872	broad.mit.edu	37	7	107393862	107393862	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107393862T>G	ENST00000440859.3	+	3	655	c.188T>G	c.(187-189)tTt>tGt	p.F63C	CBLL1_ENST00000415884.2_Missense_Mutation_p.F63C|CBLL1_ENST00000222597.2_Missense_Mutation_p.F62C	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	63					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F63C(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCAGAAGGATTTGATTATAAT	0.348																																					p.F63C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T188G	7						.						56.0	62.0	60.0					7																	107393862		2203	4300	6503	107181098	SO:0001583	missense	79872	exon3			AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.188T>G	7.37:g.107393862T>G	ENSP00000401277:p.Phe63Cys		107181098	NM_024814	B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.814077	0.50527	.	.	ENSG00000105879	ENST00000440859;ENST00000222597;ENST00000420796;ENST00000415884;ENST00000417616	T;T;T	0.36520	1.27;1.35;1.25	5.67	5.67	0.87782	.	0.057163	0.64402	D	0.000001	T	0.54791	0.1880	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.947	T	0.49661	-0.8916	10	0.32370	T	0.25	-1.5684	15.9124	0.79482	0.0:0.0:0.0:1.0	.	62;63	B7ZM03;Q75N03	.;HAKAI_HUMAN	C	63;62;13;13;9	ENSP00000401277:F63C;ENSP00000222597:F62C;ENSP00000410615:F13C	ENSP00000222597:F62C	F	+	2	0	CBLL1	107181098	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.339000	0.79282	2.164000	0.68074	0.460000	0.39030	TTT		0.348	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814	
SLC26A3	1811	broad.mit.edu	37	7	107431525	107431525	+	Missense_Mutation	SNP	C	C	T	rs369893693		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107431525C>T	ENST00000340010.5	-	5	722	c.538G>A	c.(538-540)Gca>Aca	p.A180T	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A145T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	180					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.A180T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTGACTGATGCCGCCGCCGCC	0.478																																					p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	7						.						81.0	71.0	74.0					7																	107431525		2203	4300	6503	107218761	SO:0001583	missense	1811	exon5			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.538G>A	7.37:g.107431525C>T	ENSP00000345873:p.Ala180Thr		107218761	NM_000111		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545078	0.45280	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93189	-3.14;-3.18	5.69	3.78	0.43462	.	.	.	.	.	D	0.89143	0.6631	L	0.43923	1.385	0.09310	N	0.999992	B;B	0.29590	0.164;0.25	B;B	0.29077	0.098;0.067	T	0.78927	-0.2011	9	0.25751	T	0.34	.	10.2461	0.43341	0.136:0.7937:0.0:0.0703	.	145;180	G5E9U3;P40879	.;S26A3_HUMAN	T	145;180	ENSP00000415817:A145T;ENSP00000345873:A180T	ENSP00000345873:A180T	A	-	1	0	SLC26A3	107218761	0.389000	0.25205	0.271000	0.24616	0.005000	0.04900	0.987000	0.29603	1.409000	0.46915	0.591000	0.81541	GCA		0.478	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
LAMB4	22798	broad.mit.edu	37	7	107696177	107696177	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107696177C>A	ENST00000388781.3	-	25	3738	c.3655G>T	c.(3655-3657)Gac>Tac	p.D1219Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.D1219Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.D1219Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1219	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.D1219Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTCTGAGGTCTTTGAAGTCT	0.433																																					p.D1219Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3655T	7						.						79.0	80.0	79.0					7																	107696177		2203	4300	6503	107483413	SO:0001583	missense	22798	exon25			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3655G>T	7.37:g.107696177C>A	ENSP00000373433:p.Asp1219Tyr		107483413	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037479	0.35989	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.34667	1.35;1.35;1.8;1.42	5.02	3.14	0.36123	.	0.621077	0.13418	N	0.389391	T	0.23330	0.0564	N	0.14661	0.345	0.80722	D	1	B;B	0.32425	0.238;0.371	B;B	0.35770	0.21;0.169	T	0.09487	-1.0672	10	0.59425	D	0.04	.	8.154	0.31158	0.0:0.7001:0.1437:0.1562	.	1219;1219	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Y	1219;1219;245;1219	ENSP00000205386:D1219Y;ENSP00000373433:D1219Y;ENSP00000416562:D245Y;ENSP00000373432:D1219Y	ENSP00000205386:D1219Y	D	-	1	0	LAMB4	107483413	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	1.542000	0.36137	1.346000	0.45694	0.655000	0.94253	GAC		0.433	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107706349	107706349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107706349G>T	ENST00000388781.3	-	21	2777	c.2694C>A	c.(2692-2694)taC>taA	p.Y898*	LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Y898*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Y898*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	898	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.Y898*(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATTTCCATAGTAACCATCAA	0.418																																					p.Y898X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2694A	7						.						126.0	124.0	125.0					7																	107706349		2203	4300	6503	107493585	SO:0001587	stop_gained	22798	exon21			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2694C>A	7.37:g.107706349G>T	ENSP00000373433:p.Tyr898*		107493585	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Nonsense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	42	9.684229	0.99238	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	.	.	.	4.69	4.69	0.59074	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1077	0.53821	0.0908:0.0:0.9092:0.0	.	.	.	.	X	898	.	ENSP00000205386:Y898X	Y	-	3	2	LAMB4	107493585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.730000	0.62015	2.606000	0.88127	0.563000	0.77884	TAC		0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107743535	107743535	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:107743535G>A	ENST00000388781.3	-	10	1217	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	LAMB4_ENST00000205386.4_Silent_p.F378F|LAMB4_ENST00000418464.1_Silent_p.F378F|LAMB4_ENST00000414450.2_Silent_p.F378F|LAMB4_ENST00000388780.3_Silent_p.F378F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	378	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.F378F(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGTCCCTGTAGAAGAGGGGTC	0.602																																					p.F378F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1134T	7						.						65.0	58.0	60.0					7																	107743535		2203	4300	6503	107530771	SO:0001819	synonymous_variant	22798	exon10			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1134C>T	7.37:g.107743535G>A			107530771	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																				0.602	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
PNPLA8	50640	broad.mit.edu	37	7	108119795	108119795	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:108119795G>A	ENST00000422087.1	-	11	2313	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	PNPLA8_ENST00000388728.5_Missense_Mutation_p.S574L|PNPLA8_ENST00000426128.2_Missense_Mutation_p.S574L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.S636L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.S536L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.S636L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	636	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.S636L(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGCTAATGCCGAAGGGTTATT	0.413																																					p.S636L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1907T	7						.						126.0	105.0	112.0					7																	108119795		2203	4300	6503	107907031	SO:0001583	missense	50640	exon11			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1907C>T	7.37:g.108119795G>A	ENSP00000410804:p.Ser636Leu		107907031	NM_015723	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454645	0.63290	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.76839	-1.05;-0.8;-1.05;-1.05;-1.05;-1.05	5.61	5.61	0.85477	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.192970	0.45606	D	0.000354	T	0.72590	0.3479	L	0.39085	1.19	0.25701	N	0.985588	P	0.51653	0.947	P	0.44561	0.453	T	0.70212	-0.4934	10	0.56958	D	0.05	.	15.1498	0.72689	0.0:0.1407:0.8593:0.0	.	636	Q9NP80	PLPL8_HUMAN	L	571;636;574;636;536;636;536	ENSP00000257694:S636L;ENSP00000373380:S574L;ENSP00000410804:S636L;ENSP00000387789:S536L;ENSP00000406779:S636L;ENSP00000402274:S536L	ENSP00000257694:S636L	S	-	2	0	PNPLA8	107907031	1.000000	0.71417	0.981000	0.43875	0.301000	0.27625	4.643000	0.61390	2.614000	0.88457	0.655000	0.94253	TCG		0.413	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
PNPLA8	50640	broad.mit.edu	37	7	108142960	108142960	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:108142960G>T	ENST00000422087.1	-	6	1739	c.1333C>A	c.(1333-1335)Ctc>Atc	p.L445I	PNPLA8_ENST00000388728.5_Missense_Mutation_p.L445I|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L445I|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L445I|PNPLA8_ENST00000453144.1_Missense_Mutation_p.L345I|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L445I	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	445	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.L445I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCAATTGAGAGAATTCGGATT	0.388																																					p.L445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333A	7						.						119.0	117.0	118.0					7																	108142960		2203	4300	6503	107930196	SO:0001583	missense	50640	exon6			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1333C>A	7.37:g.108142960G>T	ENSP00000410804:p.Leu445Ile		107930196	NM_015723	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311761	0.95655	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	6.02	6.02	0.97574	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95959	0.8960	10	0.72032	D	0.01	.	20.5269	0.99230	0.0:0.0:1.0:0.0	.	445	Q9NP80	PLPL8_HUMAN	I	445;445;445;445;345;445;345	ENSP00000394988:L445I;ENSP00000257694:L445I;ENSP00000373380:L445I;ENSP00000410804:L445I;ENSP00000387789:L345I;ENSP00000406779:L445I;ENSP00000402274:L345I	ENSP00000257694:L445I	L	-	1	0	PNPLA8	107930196	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.987000	0.88182	2.859000	0.98148	0.591000	0.81541	CTC		0.388	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
DNAJB9	4189	broad.mit.edu	37	7	108212277	108212277	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:108212277C>T	ENST00000249356.3	+	2	653	c.107C>T	c.(106-108)tCg>tTg	p.S36L	DNAJB9_ENST00000465725.1_3'UTR|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000415914.3_5'Flank	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.S36L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GTGCCAAAATCGGCATCAGAG	0.413																																					p.S36L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107T	7						.						103.0	113.0	109.0					7																	108212277		2203	4300	6503	107999513	SO:0001583	missense	4189	exon2			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.107C>T	7.37:g.108212277C>T	ENSP00000249356:p.Ser36Leu		107999513	NM_012328		Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442874	0.63067	.	.	ENSG00000128590	ENST00000249356	T	0.74737	-0.87	5.34	4.46	0.54185	Heat shock protein DnaJ, N-terminal (5);	0.181794	0.47093	D	0.000259	T	0.68026	0.2956	L	0.50993	1.605	0.30498	N	0.770694	D	0.55172	0.97	P	0.45406	0.479	T	0.69120	-0.5229	9	.	.	.	.	7.0934	0.25297	0.2672:0.6486:0.0:0.0842	.	36	Q9UBS3	DNJB9_HUMAN	L	36	ENSP00000249356:S36L	.	S	+	2	0	DNAJB9	107999513	1.000000	0.71417	0.591000	0.28745	0.995000	0.86356	4.349000	0.59385	1.245000	0.43885	0.563000	0.77884	TCG		0.413	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1		
NDUFA4	4697	broad.mit.edu	37	7	10978469	10978469	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:10978469G>T	ENST00000339600.5	-	2	295	c.97C>A	c.(97-99)Ctc>Atc	p.L33I	NDUFA4_ENST00000492822.1_5'Flank|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	33					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)	p.L33I(1)		large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGACGCAAGAGATACAGTGTT	0.373																																					p.L33I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97A	7						.						89.0	92.0	91.0					7																	10978469		2203	4300	6503	10944994	SO:0001583	missense	4697	exon2			U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.97C>A	7.37:g.10978469G>T	ENSP00000339720:p.Leu33Ile		10944994	NM_002489	A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	G	6.176	0.400735	0.11696	.	.	ENSG00000189043	ENST00000339600	T	0.81078	-1.45	4.97	0.917	0.19380	.	0.387478	0.26899	N	0.021930	T	0.62159	0.2405	.	.	.	0.21740	N	0.999567	B	0.10296	0.003	B	0.10450	0.005	T	0.42258	-0.9462	9	0.25106	T	0.35	-0.1184	3.7917	0.08722	0.1481:0.413:0.348:0.091	.	33	O00483	NDUA4_HUMAN	I	33	ENSP00000339720:L33I	ENSP00000339720:L33I	L	-	1	0	NDUFA4	10944994	0.935000	0.31712	0.441000	0.26858	0.024000	0.10985	-0.066000	0.11598	0.050000	0.15949	-0.211000	0.12701	CTC		0.373	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489	
PHF14	9678	broad.mit.edu	37	7	11062550	11062550	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:11062550G>T	ENST00000403050.3	+	6	1713	c.1261G>T	c.(1261-1263)Gac>Tac	p.D421Y	PHF14_ENST00000445996.2_Missense_Mutation_p.D136Y	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	421					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D421Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGGAGATATTGACAAATTACG	0.348																																					p.D421Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1261T	7						.						99.0	91.0	93.0					7																	11062550		1867	4112	5979	11029075	SO:0001583	missense	9678	exon6			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1261G>T	7.37:g.11062550G>T	ENSP00000385795:p.Asp421Tyr		11029075	NM_014660	A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524108	0.85600	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.14022	2.54;2.54	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.997	D;D;D;D	0.79784	0.971;0.975;0.993;0.972	T	0.52837	-0.8522	10	0.62326	D	0.03	.	19.6736	0.95921	0.0:0.0:1.0:0.0	.	136;136;421;421	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	Y	421;136	ENSP00000385795:D421Y;ENSP00000403907:D136Y	ENSP00000385795:D421Y	D	+	1	0	PHF14	11029075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.660000	0.90430	0.650000	0.86243	GAC		0.348	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660	
DNAJB9	4189	broad.mit.edu	37	7	108213709	108213709	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:108213709G>T	ENST00000249356.3	+	3	1130	c.584G>T	c.(583-585)aGa>aTa	p.R195I	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	195					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)	p.R195I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						ACTGAAAATAGATTTCATGGA	0.373																																					p.R195I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584T	7						.						120.0	119.0	119.0					7																	108213709		2203	4300	6503	108000945	SO:0001583	missense	4189	exon3			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.584G>T	7.37:g.108213709G>T	ENSP00000249356:p.Arg195Ile		108000945	NM_012328		Missense_Mutation	SNP	ENST00000249356.3	37	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489376	0.84962	.	.	ENSG00000128590	ENST00000249356	T	0.60797	0.16	5.86	5.86	0.93980	.	0.039585	0.85682	D	0.000000	T	0.64438	0.2598	M	0.64997	1.995	0.80722	D	1	P	0.48911	0.917	P	0.47470	0.548	T	0.62914	-0.6753	9	.	.	.	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	195	Q9UBS3	DNJB9_HUMAN	I	195	ENSP00000249356:R195I	.	R	+	2	0	DNAJB9	108000945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.425000	0.73370	2.776000	0.95493	0.655000	0.94253	AGA		0.373	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1		
LRRN3	54674	broad.mit.edu	37	7	110764715	110764715	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:110764715T>G	ENST00000422987.3	+	2	2718	c.1887T>G	c.(1885-1887)ctT>ctG	p.L629L	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L629L|LRRN3_ENST00000451085.1_Silent_p.L629L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	629					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L629L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CCACAACACTTATGGCCTGTC	0.413																																					p.L629L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1887G	7						.						74.0	74.0	74.0					7																	110764715		2203	4300	6503	110551951	SO:0001819	synonymous_variant	54674	exon2			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1887T>G	7.37:g.110764715T>G			110551951	NM_018334	O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	CCDS5754.1																																																																																				0.413	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
DOCK4	9732	broad.mit.edu	37	7	111387366	111387366	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:111387366A>C	ENST00000437633.1	-	42	4779	c.4523T>G	c.(4522-4524)gTt>gGt	p.V1508G	DOCK4_ENST00000428084.1_Missense_Mutation_p.V1517G|DOCK4_ENST00000494651.2_Missense_Mutation_p.V391G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1508	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.V1505G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGCATCTATAACTCCATTCAG	0.398																																					p.V1508G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4523G	7						.						109.0	105.0	106.0					7																	111387366		2000	4184	6184	111174602	SO:0001583	missense	9732	exon42				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.4523T>G	7.37:g.111387366A>C	ENSP00000404179:p.Val1508Gly		111174602	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.511645|4.511645	0.85389|0.85389	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288	.|T;T;T	.|0.17854	.|2.25;2.25;2.25	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.71674	.|0.996;0.998;0.998;0.998;0.995	.|D;D;D;D;D	.|0.74023	.|0.979;0.974;0.982;0.982;0.962	T|T	0.51411|0.51411	-0.8709|-0.8709	5|10	.|0.87932	.|D	.|0	.|.	15.3585|15.3585	0.74448|0.74448	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|415;391;1553;1508;1517	.|B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;.;DOCK4_HUMAN;.	V|G	969;1541|1496;1517;391;1508;1505	.|ENSP00000410746:V1517G;ENSP00000440944:V391G;ENSP00000404179:V1508G	.|ENSP00000345432:V1505G	L|V	-|-	1|2	2|0	DOCK4|DOCK4	111174602|111174602	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	9.139000|9.139000	0.94554|0.94554	2.218000|2.218000	0.71995|0.71995	0.533000|0.533000	0.62120|0.62120	TTA|GTT		0.398	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
DOCK4	9732	broad.mit.edu	37	7	111508204	111508204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:111508204C>A	ENST00000437633.1	-	22	2372	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	DOCK4_ENST00000428084.1_Nonsense_Mutation_p.E706*|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	706					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.E694*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAAATGTATTCTTGTGCCTTA	0.373																																					p.E706X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2116T	7						.						35.0	37.0	36.0					7																	111508204		1814	4082	5896	111295440	SO:0001587	stop_gained	9732	exon22				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2116G>T	7.37:g.111508204C>A	ENSP00000404179:p.Glu706*		111295440	NM_014705	O14584|O94824|Q8NB45	Nonsense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.745099|7.745099	0.98465|0.98465	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76772	.|0.4034	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74188	.|-0.3746	.|4	0.49607|.	T|.	0.09|.	.|.	20.0822|20.0822	0.97779|0.97779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	694;706;706;694;705|157;693	.|.	ENSP00000345432:E694X|.	E|K	-|-	1|3	0|2	DOCK4|DOCK4	111295440|111295440	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.805000|0.805000	0.45488|0.45488	7.445000|7.445000	0.80570|0.80570	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.373	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
DOCK4	9732	broad.mit.edu	37	7	111629206	111629206	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:111629206C>T	ENST00000437633.1	-	6	584	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DOCK4_ENST00000428084.1_Missense_Mutation_p.D110N|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	110					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.D98N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGAAGAGATCGCCTTCATTA	0.512																																					p.D110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G328A	7						.						79.0	77.0	77.0					7																	111629206		2027	4187	6214	111416442	SO:0001583	missense	9732	exon6				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.328G>A	7.37:g.111629206C>T	ENSP00000404179:p.Asp110Asn		111416442	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717479	0.68844	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.02863	4.13;4.13	5.46	5.46	0.80206	.	0.047905	0.85682	D	0.000000	T	0.04952	0.0133	L	0.49126	1.545	0.80722	D	1	B;B;B;B	0.25850	0.065;0.136;0.065;0.029	B;B;B;B	0.16722	0.014;0.01;0.016;0.006	T	0.40213	-0.9575	10	0.46703	T	0.11	.	18.6769	0.91531	0.0:1.0:0.0:0.0	.	110;110;110;110	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	N	98;110;110;98;109	ENSP00000410746:D110N;ENSP00000404179:D110N	ENSP00000345432:D98N	D	-	1	0	DOCK4	111416442	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	7.726000	0.84824	2.706000	0.92434	0.655000	0.94253	GAT		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
IFRD1	3475	broad.mit.edu	37	7	112102102	112102102	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:112102102C>A	ENST00000403825.3	+	7	926	c.665C>A	c.(664-666)tCc>tAc	p.S222Y	IFRD1_ENST00000005558.4_Missense_Mutation_p.S222Y|IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000535603.1_Missense_Mutation_p.S172Y	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	222					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)		p.S222Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTCACTAAATCCTATCTCAAA	0.353																																					p.S222Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665A	7						.						111.0	106.0	108.0					7																	112102102		2203	4300	6503	111889338	SO:0001583	missense	3475	exon7			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.665C>A	7.37:g.112102102C>A	ENSP00000384477:p.Ser222Tyr		111889338	NM_001550	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396057	0.83011	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000535603	T;T;T	0.51071	0.72;0.72;0.75	5.84	5.84	0.93424	Interferon-related developmental regulator, N-terminal (1);Armadillo-type fold (1);	0.290344	0.40640	N	0.001053	T	0.63498	0.2516	M	0.77486	2.375	0.58432	D	0.999995	P	0.42620	0.785	P	0.52159	0.691	T	0.65537	-0.6144	10	0.62326	D	0.03	-8.9464	14.9211	0.70838	0.1431:0.8569:0.0:0.0	.	222	O00458	IFRD1_HUMAN	Y	222;222;172	ENSP00000005558:S222Y;ENSP00000384477:S222Y;ENSP00000439188:S172Y	ENSP00000005558:S222Y	S	+	2	0	IFRD1	111889338	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.543000	0.60684	2.775000	0.95449	0.655000	0.94253	TCC		0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
IFRD1	3475	broad.mit.edu	37	7	112112836	112112836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:112112836C>T	ENST00000403825.3	+	11	1447	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	IFRD1_ENST00000005558.4_Nonsense_Mutation_p.R396*|IFRD1_ENST00000535603.1_Nonsense_Mutation_p.R346*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	396				R -> E (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)		p.R396*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAATTCCTTCGAAATGTATT	0.358																																					p.R396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1186T	7						.						119.0	118.0	118.0					7																	112112836		2203	4300	6503	111900072	SO:0001587	stop_gained	3475	exon11			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1186C>T	7.37:g.112112836C>T	ENSP00000384477:p.Arg396*		111900072	NM_001550	B7Z5G1|O75234|Q5U013|Q9BVE4	Nonsense_Mutation	SNP	ENST00000403825.3	37	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	C	37	6.477943	0.97598	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2822	14.5242	0.67875	0.1467:0.8532:0.0:0.0	.	.	.	.	X	396;396;131;346;59	.	ENSP00000005558:R396X	R	+	1	2	IFRD1	111900072	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.083000	0.41615	2.762000	0.94881	0.650000	0.86243	CGA		0.358	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550	
TMEM168	64418	broad.mit.edu	37	7	112415338	112415338	+	Silent	SNP	G	G	A	rs201379399		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:112415338G>A	ENST00000312814.6	-	3	1724	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	TMEM168_ENST00000454074.1_Silent_p.I388I|TMEM168_ENST00000480969.1_5'UTR	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	388						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.I388I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATGGCAAAACGATTAGAAACA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		16681	0.001		0.0	False		,,,				2504	0.0				p.I388I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1164T	7						.						89.0	77.0	81.0					7																	112415338		2203	4300	6503	112202574	SO:0001819	synonymous_variant	64418	exon3				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1164C>T	7.37:g.112415338G>A			112202574	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Silent	SNP	ENST00000312814.6	37	CCDS5757.1																																																																																				0.368	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
TMEM168	64418	broad.mit.edu	37	7	112424870	112424870	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:112424870G>T	ENST00000312814.6	-	2	571	c.11C>A	c.(10-12)tCa>tAa	p.S4*	TMEM168_ENST00000454074.1_Nonsense_Mutation_p.S4*	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	4						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.S4*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAACGCAGTGATTTACACAT	0.388																																					p.S4X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C11A	7						.						55.0	49.0	51.0					7																	112424870		2203	4300	6503	112212106	SO:0001587	stop_gained	64418	exon2				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.11C>A	7.37:g.112424870G>T	ENSP00000323068:p.Ser4*		112212106	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Nonsense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	38	7.148165	0.98096	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.2	5.2	0.72013	.	0.084481	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-21.5454	19.1034	0.93283	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000323068:S4X	S	-	2	0	TMEM168	112212106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.867000	0.75511	2.571000	0.86741	0.650000	0.86243	TCA		0.388	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
PPP1R3A	5506	broad.mit.edu	37	7	113519535	113519535	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:113519535A>C	ENST00000284601.3	-	4	1680	c.1612T>G	c.(1612-1614)Tta>Gta	p.L538V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	538					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.L538V(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGTCATGTAAGATTGTTTGG	0.373																																					p.L538V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1612G	7						.						98.0	88.0	91.0					7																	113519535		2203	4300	6503	113306771	SO:0001583	missense	5506	exon4			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1612T>G	7.37:g.113519535A>C	ENSP00000284601:p.Leu538Val		113306771	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869912	0.33069	.	.	ENSG00000154415	ENST00000284601	T	0.16457	2.34	6.02	3.51	0.40186	.	0.946937	0.08812	N	0.890108	T	0.16041	0.0386	L	0.57536	1.79	0.09310	N	1	B	0.34015	0.435	B	0.24974	0.057	T	0.21280	-1.0250	10	0.44086	T	0.13	-0.6216	6.3716	0.21485	0.6765:0.1654:0.0:0.1581	.	538	Q16821	PPR3A_HUMAN	V	538	ENSP00000284601:L538V	ENSP00000284601:L538V	L	-	1	2	PPP1R3A	113306771	0.022000	0.18835	0.004000	0.12327	0.133000	0.20885	1.519000	0.35888	1.082000	0.41137	0.533000	0.62120	TTA		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
THSD7A	221981	broad.mit.edu	37	7	11464376	11464376	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:11464376G>T	ENST00000423059.4	-	16	3581	c.3330C>A	c.(3328-3330)acC>acA	p.T1110T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1110	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1110T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TATTCACAAAGGTCACCTTGC	0.478										HNSCC(18;0.044)																											p.T1110T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3330A	7						.						207.0	194.0	198.0					7																	11464376		1994	4187	6181	11430901	SO:0001819	synonymous_variant	221981	exon15				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3330C>A	7.37:g.11464376G>T			11430901	NM_015204		Silent	SNP	ENST00000423059.4	37	CCDS47543.1																																																																																				0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
FOXP2	93986	broad.mit.edu	37	7	114304367	114304367	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:114304367C>T	ENST00000393494.2	+	16	2158	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	FOXP2_ENST00000350908.4_Missense_Mutation_p.P627S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.P652S|FOXP2_ENST00000393498.2_Missense_Mutation_p.P606S|FOXP2_ENST00000403559.4_Missense_Mutation_p.P644S|FOXP2_ENST00000393491.3_Missense_Mutation_p.P442S|FOXP2_ENST00000393489.3_Missense_Mutation_p.P535S			O15409	FOXP2_HUMAN	forkhead box P2	627					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P652S(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCTAAGTAATCCTGGACTGAT	0.403																																					p.P627S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1879T	7						.						88.0	79.0	82.0					7																	114304367		2203	4300	6503	114091603	SO:0001583	missense	93986	exon16			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1879C>T	7.37:g.114304367C>T	ENSP00000377132:p.Pro627Ser		114091603	NM_014491	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189465	0.38707	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91945	-2.68;-2.67;-2.68;-2.68;-2.76;-2.94	5.57	5.57	0.84162	.	0.100076	0.64402	D	0.000001	D	0.91260	0.7245	L	0.46157	1.445	0.80722	D	1	B;B;P;B;B	0.41710	0.295;0.025;0.76;0.295;0.137	B;B;P;B;B	0.46510	0.068;0.026;0.519;0.068;0.057	D	0.90967	0.4817	10	0.48119	T	0.1	.	14.3901	0.66973	0.1477:0.8523:0.0:0.0	.	626;644;442;627;652	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	S	627;652;644;627;604;535;442	ENSP00000377132:P627S;ENSP00000386200:P652S;ENSP00000385069:P644S;ENSP00000265436:P627S;ENSP00000377129:P535S;ENSP00000377130:P442S	ENSP00000265436:P627S	P	+	1	0	FOXP2	114091603	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.341000	0.59335	2.614000	0.88457	0.655000	0.94253	CCT		0.403	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
CAPZA2	830	broad.mit.edu	37	7	116528223	116528223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:116528223G>T	ENST00000361183.3	+	2	221	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	CAPZA2_ENST00000458284.2_Nonsense_Mutation_p.E28*|CAPZA2_ENST00000490693.1_Nonsense_Mutation_p.E28*	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	28					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.E28*(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CCCTCCTGGAGAATTTAATGA	0.338																																					p.E28X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G82T	7						.						92.0	95.0	94.0					7																	116528223		2203	4298	6501	116315459	SO:0001587	stop_gained	830	exon2				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.82G>T	7.37:g.116528223G>T	ENSP00000354947:p.Glu28*		116315459	NM_006136	B4DG50	Nonsense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	23.9|23.9	4.471051|4.471051	0.84533|0.84533	.|.	.|.	ENSG00000198898|ENSG00000198898	ENST00000464223;ENST00000484325|ENST00000361183;ENST00000458284;ENST00000490693	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.81574|.	0.4851|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.82973|.	-0.0191|.	5|.	0.87932|0.87932	D|D	0|0	-19.3167|-19.3167	18.9609|18.9609	0.92677|0.92677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	5|28	.|.	ENSP00000420640:E5D|ENSP00000354947:E28X	E|E	+|+	3|1	2|0	CAPZA2|CAPZA2	116315459|116315459	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.490000|7.490000	0.81461|0.81461	2.776000|2.776000	0.95493|0.95493	0.586000|0.586000	0.80456|0.80456	GAG|GAA		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136	
CAPZA2	830	broad.mit.edu	37	7	116556135	116556135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:116556135G>T	ENST00000361183.3	+	9	818	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	CAPZA2_ENST00000458284.2_3'UTR	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	227					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.E227*(2)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AACAGCAAAAGAATTTATAAA	0.224																																					p.E227X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G679T	7						.						20.0	22.0	21.0					7																	116556135		2184	4272	6456	116343371	SO:0001587	stop_gained	830	exon9				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.679G>T	7.37:g.116556135G>T	ENSP00000354947:p.Glu227*		116343371	NM_006136	B4DG50	Nonsense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991878	0.97179	.	.	ENSG00000198898	ENST00000361183	.	.	.	5.55	5.55	0.83447	.	0.051784	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.7075	19.5113	0.95142	0.0:0.0:1.0:0.0	.	.	.	.	X	227	.	ENSP00000354947:E227X	E	+	1	0	CAPZA2	116343371	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.607000	0.98328	2.612000	0.88384	0.591000	0.81541	GAA		0.224	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136	
ASZ1	136991	broad.mit.edu	37	7	117023053	117023053	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117023053C>A	ENST00000284629.2	-	7	861	c.799G>T	c.(799-801)Gat>Tat	p.D267Y		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.D267Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AAAATGTGATCTTTTTCTCTA	0.259																																					p.D267Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799T	7						.						60.0	60.0	60.0					7																	117023053		2192	4267	6459	116810289	SO:0001583	missense	136991	exon7			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.799G>T	7.37:g.117023053C>A	ENSP00000284629:p.Asp267Tyr		116810289	NM_130768		Missense_Mutation	SNP	ENST00000284629.2	37	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354888	0.61293	.	.	ENSG00000154438	ENST00000284629	T	0.68479	-0.33	5.71	5.71	0.89125	.	0.363222	0.32386	N	0.006163	T	0.76378	0.3979	M	0.65975	2.015	0.37634	D	0.9218	D;D	0.62365	0.991;0.991	P;P	0.56700	0.804;0.804	T	0.80576	-0.1321	10	0.59425	D	0.04	-38.4327	15.3667	0.74529	0.0:1.0:0.0:0.0	.	267;267	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	Y	267	ENSP00000284629:D267Y	ENSP00000284629:D267Y	D	-	1	0	ASZ1	116810289	0.992000	0.36948	1.000000	0.80357	0.802000	0.45316	3.124000	0.50461	2.707000	0.92482	0.650000	0.86243	GAT		0.259	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
CFTR	1080	broad.mit.edu	37	7	117188741	117188741	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117188741G>T	ENST00000003084.6	+	10	1388	c.1256G>T	c.(1255-1257)aGa>aTa	p.R419I	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	419					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.R419I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AATAACAATAGAAAAACTTCT	0.333									Cystic Fibrosis																												p.R419I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256T	7						.						20.0	21.0	21.0					7																	117188741		2199	4291	6490	116975977	SO:0001583	missense	1080	exon10	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1256G>T	7.37:g.117188741G>T	ENSP00000003084:p.Arg419Ile		116975977	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477753	0.12521	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	D;D	0.92699	-3.03;-3.09	4.85	2.87	0.33458	ABC transporter, transmembrane domain, type 1 (1);	0.468223	0.25971	N	0.027126	D	0.87120	0.6098	L	0.34521	1.04	0.21220	N	0.99976	B	0.15719	0.014	B	0.22601	0.04	T	0.76846	-0.2808	10	0.35671	T	0.21	-3.9783	14.0016	0.64437	0.0:0.0:0.7296:0.2704	.	419	P13569	CFTR_HUMAN	I	419;389	ENSP00000003084:R419I;ENSP00000389119:R389I	ENSP00000003084:R419I	R	+	2	0	CFTR	116975977	1.000000	0.71417	0.003000	0.11579	0.034000	0.12701	3.332000	0.52083	1.143000	0.42306	0.650000	0.86243	AGA		0.333	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CFTR	1080	broad.mit.edu	37	7	117227869	117227869	+	Missense_Mutation	SNP	C	C	A	rs121909022		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117227869C>A	ENST00000003084.6	+	12	1793	c.1661C>A	c.(1660-1662)gCa>gAa	p.A554E	CFTR_ENST00000454343.1_Missense_Mutation_p.A493E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	554	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.A554E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGTCAACGAGCAAGAATTTCT	0.343									Cystic Fibrosis																												p.A554E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1661A	7	GRCh37	CM930113	CFTR	M	rs121909022	.						96.0	96.0	96.0					7																	117227869		2203	4300	6503	117015105	SO:0001583	missense	1080	exon12	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1661C>A	7.37:g.117227869C>A	ENSP00000003084:p.Ala554Glu		117015105	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046947	0.93740	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90133	-2.62;-2.62;-2.62	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.94935	0.8362	M	0.68317	2.08	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95170	0.8289	9	0.87932	D	0	-16.8806	19.2582	0.93955	0.0:1.0:0.0:0.0	.	554	P13569	CFTR_HUMAN	E	554;493;524	ENSP00000003084:A554E;ENSP00000403677:A493E;ENSP00000389119:A524E	ENSP00000003084:A554E	A	+	2	0	CFTR	117015105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.088000	0.64486	2.622000	0.88805	0.655000	0.94253	GCA		0.343	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CFTR	1080	broad.mit.edu	37	7	117250675	117250675	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117250675G>A	ENST00000003084.6	+	19	3223	c.3091G>A	c.(3091-3093)Gca>Aca	p.A1031T	CFTR_ENST00000454343.1_Missense_Mutation_p.A970T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1031	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.A1031T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TATGTTGAGAGCATATTTCCT	0.383									Cystic Fibrosis																												p.A1031T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3091A	7						.						126.0	112.0	117.0					7																	117250675		2203	4300	6503	117037911	SO:0001583	missense	1080	exon19	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3091G>A	7.37:g.117250675G>A	ENSP00000003084:p.Ala1031Thr		117037911	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806461	0.31961	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90900	-2.75;-2.75;-2.75	6.16	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.249428	0.47455	D	0.000233	D	0.89104	0.6620	L	0.41236	1.265	0.35645	D	0.811275	B	0.21225	0.053	B	0.38655	0.278	D	0.87581	0.2484	10	0.23302	T	0.38	-3.2963	14.5361	0.67960	0.0:0.0:0.7333:0.2667	.	1031	P13569	CFTR_HUMAN	T	1031;970;1001	ENSP00000003084:A1031T;ENSP00000403677:A970T;ENSP00000389119:A1001T	ENSP00000003084:A1031T	A	+	1	0	CFTR	117037911	1.000000	0.71417	0.697000	0.30258	0.105000	0.19272	3.680000	0.54641	1.591000	0.50007	0.650000	0.86243	GCA		0.383	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CFTR	1080	broad.mit.edu	37	7	117282581	117282581	+	Silent	SNP	C	C	T	rs1800129		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117282581C>T	ENST00000003084.6	+	23	3939	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	CFTR_ENST00000454343.1_Silent_p.I1208I|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1269	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.I1269I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAATCCAGATCGATGGTGTGT	0.438									Cystic Fibrosis																												p.I1269I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3807T	7						.						128.0	125.0	126.0					7																	117282581		2203	4300	6503	117069817	SO:0001819	synonymous_variant	1080	exon23	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3807C>T	7.37:g.117282581C>T			117069817	NM_000492	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
CTTNBP2	83992	broad.mit.edu	37	7	117365280	117365280	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117365280C>T	ENST00000160373.3	-	18	4178	c.4087G>A	c.(4087-4089)Gca>Aca	p.A1363T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1363					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.A1363T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACTCTGGGTGCGATGACGCCA	0.478																																					p.A1363T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4087A	7						.						180.0	173.0	175.0					7																	117365280		2203	4300	6503	117152516	SO:0001583	missense	83992	exon18				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4087G>A	7.37:g.117365280C>T	ENSP00000160373:p.Ala1363Thr		117152516	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.29|16.29	3.082939|3.082939	0.55861|0.55861	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|.	0.89050|.	-2.46|.	5.72|5.72	3.93|3.93	0.45458|0.45458	.|.	0.209915|.	0.51477|.	N|.	0.000093|.	T|T	0.75867|0.75867	0.3908|0.3908	M|M	0.84585|0.84585	2.705|2.705	0.36210|0.36210	D|D	0.851305|0.851305	D|.	0.76494|.	0.999|.	P|.	0.59825|.	0.864|.	T|T	0.81982|0.81982	-0.0683|-0.0683	10|5	0.49607|.	T|.	0.09|.	-0.4431|-0.4431	12.5805|12.5805	0.56388|0.56388	0.0:0.8654:0.0:0.1346|0.0:0.8654:0.0:0.1346	.|.	1363|.	Q8WZ74|.	CTTB2_HUMAN|.	T|H	1363|850	ENSP00000160373:A1363T|.	ENSP00000160373:A1363T|.	A|R	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117152516|117152516	1.000000|1.000000	0.71417|0.71417	0.093000|0.093000	0.20910|0.20910	0.185000|0.185000	0.23345|0.23345	4.579000|4.579000	0.60936|0.60936	0.889000|0.889000	0.36185|0.36185	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.478	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117368182	117368182	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117368182G>T	ENST00000160373.3	-	17	4107	c.4016C>A	c.(4015-4017)tCt>tAt	p.S1339Y		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1339					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S1339Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TACAGGACAAGACAGGAAATA	0.488																																					p.S1339Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4016A	7						.						90.0	96.0	94.0					7																	117368182		2203	4300	6503	117155418	SO:0001583	missense	83992	exon17				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4016C>A	7.37:g.117368182G>T	ENSP00000160373:p.Ser1339Tyr		117155418	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686344	0.88639	.	.	ENSG00000077063	ENST00000160373	D	0.90676	-2.71	5.43	5.43	0.79202	.	0.152363	0.64402	D	0.000009	D	0.95465	0.8527	M	0.87547	2.89	0.58432	D	0.999998	D	0.57899	0.981	P	0.59288	0.855	D	0.95812	0.8842	10	0.87932	D	0	-2.4272	19.5983	0.95549	0.0:0.0:1.0:0.0	.	1339	Q8WZ74	CTTB2_HUMAN	Y	1339	ENSP00000160373:S1339Y	ENSP00000160373:S1339Y	S	-	2	0	CTTNBP2	117155418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.873000	0.92357	2.704000	0.92352	0.650000	0.86243	TCT		0.488	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117417776	117417776	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117417776A>G	ENST00000160373.3	-	8	2658	c.2567T>C	c.(2566-2568)gTg>gCg	p.V856A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	856					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.V856A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCTGTCCACATTACCAGT	0.443																																					p.V856A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2567C	7						.						72.0	74.0	74.0					7																	117417776		2203	4300	6503	117205012	SO:0001583	missense	83992	exon8				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2567T>C	7.37:g.117417776A>G	ENSP00000160373:p.Val856Ala		117205012	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957734	0.53400	.	.	ENSG00000077063	ENST00000160373	T	0.53857	0.6	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.165679	0.52532	D	0.000065	T	0.42449	0.1203	N	0.16307	0.4	0.43467	D	0.995674	P	0.45768	0.866	P	0.44597	0.454	T	0.36040	-0.9764	10	0.35671	T	0.21	-18.8457	15.8249	0.78690	1.0:0.0:0.0:0.0	.	856	Q8WZ74	CTTB2_HUMAN	A	856	ENSP00000160373:V856A	ENSP00000160373:V856A	V	-	2	0	CTTNBP2	117205012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.438000	0.59961	2.197000	0.70478	0.528000	0.53228	GTG		0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117431351	117431351	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117431351C>T	ENST00000160373.3	-	4	1990	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	633					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.T633T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACCTGAGACGTGGCCAGGG	0.552																																					p.T633T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1899A	7						.						83.0	76.0	78.0					7																	117431351		2203	4300	6503	117218587	SO:0001819	synonymous_variant	83992	exon4				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1899G>A	7.37:g.117431351C>T			117218587	NM_033427	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	5.590	0.293679	0.10567	.	.	ENSG00000077063	ENST00000446636	.	.	.	5.74	0.556	0.17253	.	.	.	.	.	T	0.53610	0.1807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41395	-0.9511	4	.	.	.	-1.2485	6.9355	0.24464	0.1105:0.4548:0.0:0.4347	.	.	.	.	I	162	.	.	V	-	1	0	CTTNBP2	117218587	0.381000	0.25140	0.997000	0.53966	0.981000	0.71138	-0.402000	0.07223	-0.038000	0.13624	-1.119000	0.02030	GTC		0.552	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CTTNBP2	83992	broad.mit.edu	37	7	117432385	117432385	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117432385G>A	ENST00000160373.3	-	4	956	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	289					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R289C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAAACCAAACGCCTATCTTTT	0.443																																					p.R289C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C865T	7						.						144.0	126.0	132.0					7																	117432385		2203	4300	6503	117219621	SO:0001583	missense	83992	exon4				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.865C>T	7.37:g.117432385G>A	ENSP00000160373:p.Arg289Cys		117219621	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917573	0.33815	.	.	ENSG00000077063	ENST00000160373	T	0.65916	-0.18	5.67	5.67	0.87782	.	0.315545	0.39475	N	0.001359	T	0.67392	0.2888	M	0.82630	2.6	0.47065	D	0.9993	D	0.53885	0.963	P	0.44860	0.462	T	0.73541	-0.3950	10	0.66056	D	0.02	-4.5801	11.8781	0.52558	0.0:0.1226:0.7354:0.1419	.	289	Q8WZ74	CTTB2_HUMAN	C	289	ENSP00000160373:R289C	ENSP00000160373:R289C	R	-	1	0	CTTNBP2	117219621	0.973000	0.33851	0.996000	0.52242	0.215000	0.24574	1.474000	0.35398	2.831000	0.97527	0.650000	0.86243	CGT		0.443	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
ANKRD7	56311	broad.mit.edu	37	7	117876899	117876899	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:117876899C>A	ENST00000265224.4	+	5	786	c.631C>A	c.(631-633)Ctt>Att	p.L211I	ANKRD7_ENST00000417525.1_Missense_Mutation_p.L158I|ANKRD7_ENST00000433239.1_Missense_Mutation_p.L158I|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.L231I	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	211					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.L231I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AAAGCTTCTTCTTCAGCAAGG	0.398																																					p.L211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631A	7						.						238.0	221.0	226.0					7																	117876899		1893	4116	6009	117664135	SO:0001583	missense	56311	exon5			D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.631C>A	7.37:g.117876899C>A	ENSP00000265224:p.Leu211Ile		117664135	NM_019644	B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043113	0.36085	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.57907	1.38;1.38;0.37;0.37	4.57	4.57	0.56435	Ankyrin repeat-containing domain (3);	0.000000	0.42294	D	0.000727	T	0.57917	0.2086	M	0.64404	1.975	0.33095	D	0.538406	D	0.65815	0.995	P	0.55965	0.788	T	0.60845	-0.7182	10	0.02654	T	1	-6.8665	14.4335	0.67266	0.0:1.0:0.0:0.0	.	211	Q92527	ANKR7_HUMAN	I	231;211;158;158	ENSP00000349612:L231I;ENSP00000265224:L211I;ENSP00000395595:L158I;ENSP00000388473:L158I	ENSP00000265224:L211I	L	+	1	0	ANKRD7	117664135	0.999000	0.42202	0.998000	0.56505	0.157000	0.22087	2.512000	0.45485	2.260000	0.74910	0.305000	0.20034	CTT		0.398	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
CPED1	79974	broad.mit.edu	37	7	120740099	120740099	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:120740099C>T	ENST00000310396.5	+	7	1336	c.869C>T	c.(868-870)tCg>tTg	p.S290L	CPED1_ENST00000450913.2_Missense_Mutation_p.S290L|CPED1_ENST00000423795.1_Missense_Mutation_p.S70L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	290						endoplasmic reticulum (GO:0005783)		p.S290L(1)									TTCATTCATTCGACGGGCACA	0.428																																					p.S290L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	7						.						157.0	134.0	141.0					7																	120740099		2203	4300	6503	120527335	SO:0001583	missense	79974	exon7				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.869C>T	7.37:g.120740099C>T	ENSP00000309772:p.Ser290Leu		120527335	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380134	0.82682	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.58	5.58	0.84498	.	0.403623	0.25804	N	0.028184	T	0.65668	0.2713	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.996;0.997	T	0.67469	-0.5663	10	0.62326	D	0.03	.	16.4822	0.84160	0.0:1.0:0.0:0.0	.	70;290;290	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	290;290;290;70;70	ENSP00000309772:S290L;ENSP00000398082:S290L;ENSP00000406122:S290L;ENSP00000415573:S70L;ENSP00000391952:S70L	ENSP00000309772:S290L	S	+	2	0	C7orf58	120527335	0.997000	0.39634	0.993000	0.49108	0.729000	0.41735	4.585000	0.60977	2.641000	0.89580	0.585000	0.79938	TCG		0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
CPED1	79974	broad.mit.edu	37	7	120782146	120782146	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:120782146G>A	ENST00000310396.5	+	16	2473	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	CPED1_ENST00000450913.2_Missense_Mutation_p.R669H|CPED1_ENST00000423795.1_Missense_Mutation_p.R449H	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	669						endoplasmic reticulum (GO:0005783)		p.R669H(1)									AGAGAAGACCGCCCAAGTCTG	0.433																																					p.R669H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2006A	7						.						189.0	170.0	176.0					7																	120782146		2203	4299	6502	120569382	SO:0001583	missense	79974	exon16				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2006G>A	7.37:g.120782146G>A	ENSP00000309772:p.Arg669His		120569382	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145084	0.94603	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.31510	1.85;1.49;1.51	5.77	5.77	0.91146	.	0.116384	0.56097	D	0.000024	T	0.51686	0.1689	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.91635	0.999;0.999;0.619	T	0.47736	-0.9094	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	449;669;669	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	H	669;669;449	ENSP00000309772:R669H;ENSP00000406122:R669H;ENSP00000415573:R449H	ENSP00000309772:R669H	R	+	2	0	C7orf58	120569382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.103000	0.77014	2.885000	0.99019	0.655000	0.94253	CGC		0.433	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
CPED1	79974	broad.mit.edu	37	7	120876862	120876862	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:120876862G>T	ENST00000310396.5	+	17	2617	c.2150G>T	c.(2149-2151)aGa>aTa	p.R717I	CPED1_ENST00000450913.2_Missense_Mutation_p.R717I|CPED1_ENST00000423795.1_Missense_Mutation_p.R497I	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	717						endoplasmic reticulum (GO:0005783)		p.R717I(1)									GAACTAAAAAGATGTCCATCT	0.358																																					p.R717I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150T	7						.						94.0	91.0	92.0					7																	120876862		2203	4300	6503	120664098	SO:0001583	missense	79974	exon17				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2150G>T	7.37:g.120876862G>T	ENSP00000309772:p.Arg717Ile		120664098	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	8.020	0.759339	0.15846	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.19806	2.33;2.12;2.13	5.86	-4.01	0.04045	.	0.896444	0.09754	N	0.760194	T	0.03651	0.0104	N	0.00436	-1.5	0.09310	N	0.999994	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.15066	T	0.55	.	2.9795	0.05948	0.1763:0.4435:0.1365:0.2437	.	497;717;717	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	I	717;717;497	ENSP00000309772:R717I;ENSP00000406122:R717I;ENSP00000415573:R497I	ENSP00000309772:R717I	R	+	2	0	C7orf58	120664098	0.029000	0.19370	0.001000	0.08648	0.715000	0.41141	0.014000	0.13333	-0.795000	0.04462	-0.225000	0.12378	AGA		0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
PTPRZ1	5803	broad.mit.edu	37	7	121651648	121651648	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121651648G>A	ENST00000393386.2	+	12	2959	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	850					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E850K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTCAGCTACCGAGAGTGATAA	0.478																																					p.E850K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2548A	7						.						135.0	126.0	129.0					7																	121651648		2203	4300	6503	121438884	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2548G>A	7.37:g.121651648G>A	ENSP00000377047:p.Glu850Lys		121438884	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190780	0.38707	.	.	ENSG00000106278	ENST00000393386	T	0.48836	0.8	5.71	3.81	0.43845	.	0.459334	0.21658	N	0.071069	T	0.38585	0.1046	M	0.63428	1.95	0.80722	D	1	P	0.41710	0.76	B	0.30943	0.122	T	0.40646	-0.9552	10	0.52906	T	0.07	.	9.8396	0.40991	0.0735:0.1382:0.7883:0.0	.	850	P23471	PTPRZ_HUMAN	K	850	ENSP00000377047:E850K	ENSP00000377047:E850K	E	+	1	0	PTPRZ1	121438884	1.000000	0.71417	0.927000	0.36925	0.883000	0.51084	2.369000	0.44231	1.428000	0.47296	-0.128000	0.14901	GAG		0.478	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
PTPRZ1	5803	broad.mit.edu	37	7	121652624	121652624	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121652624C>A	ENST00000393386.2	+	12	3935	c.3524C>A	c.(3523-3525)tCt>tAt	p.S1175Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1175					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1175Y(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTCAGCTTCTTTTAGTACT	0.433																																					p.S1175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3524A	7						.						209.0	206.0	207.0					7																	121652624		2203	4300	6503	121439860	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3524C>A	7.37:g.121652624C>A	ENSP00000377047:p.Ser1175Tyr		121439860	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791758	0.50102	.	.	ENSG00000106278	ENST00000393386	T	0.45668	0.89	5.51	5.51	0.81932	.	0.797182	0.11326	N	0.575544	T	0.46619	0.1402	L	0.54323	1.7	0.80722	D	1	P	0.49447	0.924	P	0.44732	0.459	T	0.47509	-0.9112	10	0.72032	D	0.01	.	14.2663	0.66121	0.1489:0.8511:0.0:0.0	.	1175	P23471	PTPRZ_HUMAN	Y	1175	ENSP00000377047:S1175Y	ENSP00000377047:S1175Y	S	+	2	0	PTPRZ1	121439860	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	2.775000	0.47702	2.573000	0.86826	0.555000	0.69702	TCT		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
PTPRZ1	5803	broad.mit.edu	37	7	121694029	121694029	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121694029C>A	ENST00000393386.2	+	26	6729	c.6318C>A	c.(6316-6318)ttC>ttA	p.F2106L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.F1239L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2106	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F2106L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCAAGGATTTCTGGAGGATGA	0.438																																					p.F2106L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6318A	7						.						197.0	188.0	191.0					7																	121694029		2203	4300	6503	121481265	SO:0001583	missense	5803	exon26			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6318C>A	7.37:g.121694029C>A	ENSP00000377047:p.Phe2106Leu		121481265	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576083	0.65878	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.39056	1.1;1.1	5.67	3.87	0.44632	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	T	0.66336	0.2779	M	0.91510	3.215	0.58432	D	0.999997	B;P;P	0.51351	0.233;0.944;0.891	B;P;P	0.59948	0.104;0.823;0.866	T	0.73353	-0.4009	10	0.62326	D	0.03	.	11.587	0.50925	0.0:0.8574:0.0:0.1426	.	1245;1239;2106	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	L	2106;1239	ENSP00000377047:F2106L;ENSP00000410000:F1239L	ENSP00000377047:F2106L	F	+	3	2	PTPRZ1	121481265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.607000	0.46300	1.397000	0.46682	0.591000	0.81541	TTC		0.438	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
AASS	10157	broad.mit.edu	37	7	121733115	121733115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121733115C>A	ENST00000393376.1	-	15	1848	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Nonsense_Mutation_p.E585*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	585	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.E585*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTTTCCAATTCTTTTAGTGCT	0.378																																					p.E585X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1753T	7						.						164.0	170.0	168.0					7																	121733115		2203	4300	6503	121520351	SO:0001587	stop_gained	10157	exon16			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1753G>T	7.37:g.121733115C>A	ENSP00000377040:p.Glu585*		121520351	NM_005763	O95462	Nonsense_Mutation	SNP	ENST00000393376.1	37	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	39	7.354968	0.98231	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-22.0805	20.2544	0.98414	0.0:1.0:0.0:0.0	.	.	.	.	X	585	.	ENSP00000351834:E585X	E	-	1	0	AASS	121520351	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.451000	0.60047	2.885000	0.99019	0.655000	0.94253	GAA		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
FEZF1	389549	broad.mit.edu	37	7	121943719	121943719	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121943719T>G	ENST00000442488.2	-	1	840	c.773A>C	c.(772-774)aAa>aCa	p.K258T	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.K208T|FEZF1_ENST00000331178.4_Missense_Mutation_p.K258T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	258					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.K258T(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGTGAAAACTTTGGGCTTGGC	0.507																																					p.K258T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A773C	7						.						124.0	136.0	132.0					7																	121943719		2203	4300	6503	121730955	SO:0001583	missense	389549	exon1			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.773A>C	7.37:g.121943719T>G	ENSP00000411145:p.Lys258Thr		121730955	NM_001024613	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	t	19.92	3.916708	0.73098	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.2;3.1;3.2	4.8	4.8	0.61643	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.00583	-1.1659	10	0.87932	D	0	-11.9512	14.8686	0.70437	0.0:0.0:0.0:1.0	.	258;208	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	T	258;258;208	ENSP00000411145:K258T;ENSP00000332777:K258T;ENSP00000392727:K208T	ENSP00000332777:K258T	K	-	2	0	FEZF1	121730955	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.435000	0.80391	2.160000	0.67779	0.445000	0.29226	AAA		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
CADPS2	93664	broad.mit.edu	37	7	121985693	121985693	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:121985693G>A	ENST00000449022.2	-	28	3566	c.3547C>T	c.(3547-3549)Cgg>Tgg	p.R1183W	CADPS2_ENST00000334010.7_Missense_Mutation_p.R1181W|RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R1142W|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R1142W	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1183					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.R1180W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGGTTTTGCCGAACAAACATA	0.373																																					p.R1187W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3559T	7						.						176.0	167.0	170.0					7																	121985693		1819	4080	5899	121772929	SO:0001583	missense	93664	exon28				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3547C>T	7.37:g.121985693G>A	ENSP00000398481:p.Arg1183Trp		121772929	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.950930|4.950930	0.92660|0.92660	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83372|0.83372	0.5240|0.5240	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.996;0.997;0.996;0.997|.	T|T	0.82868|0.82868	-0.0244|-0.0244	10|5	0.87932|.	D|.	0|.	-16.7106|-16.7106	20.6634|20.6634	0.99662|0.99662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1187;1142;1183;1137|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	W|L	356;1142;1181;1188;1109;1142;1183|785	ENSP00000325581:R1142W;ENSP00000333940:R1181W;ENSP00000400401:R1142W;ENSP00000398481:R1183W|.	ENSP00000325581:R1142W|.	R|S	-|-	1|2	2|0	CADPS2|CADPS2	121772929|121772929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.695000|7.695000	0.84257|0.84257	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
CADPS2	93664	broad.mit.edu	37	7	122047704	122047704	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122047704A>C	ENST00000449022.2	-	20	2655	c.2636T>G	c.(2635-2637)tTt>tGt	p.F879C	CADPS2_ENST00000334010.7_Missense_Mutation_p.F877C|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.F873C|CADPS2_ENST00000313070.7_Missense_Mutation_p.F873C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	879	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.F876C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TAAAGCCCAAAATTTCTCTGC	0.388																																					p.F883C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2648G	7						.						56.0	55.0	56.0					7																	122047704		1940	4148	6088	121834940	SO:0001583	missense	93664	exon20				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2636T>G	7.37:g.122047704A>C	ENSP00000398481:p.Phe879Cys		121834940	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	23.5|23.5|23.5	4.427043|4.427043|4.427043	0.83667|0.83667|0.83667	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699|ENST00000397721	T;T;T;T|.|.	0.57907|.|.	0.41;0.4;0.41;0.37|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	Calcium-dependent secretion activator (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|T|T	0.74650|0.74650|0.74650	0.3744|0.3744|0.3744	M|M|M	0.73598|0.73598|0.73598	2.24|2.24|2.24	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.999|.|.	D;D;D;D|.|.	0.97110|.|.	0.999;1.0;0.999;0.995|.|.	T|T|T	0.75419|0.75419|0.75419	-0.3324|-0.3324|-0.3324	10|7|5	0.87932|0.87932|.	D|D|.	0|0|.	-17.3102|-17.3102|-17.3102	15.5078|15.5078|15.5078	0.75753|0.75753|0.75753	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	883;873;879;873|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	C|V|M	52;873;877;884;840;873;879|73|521	ENSP00000325581:F873C;ENSP00000333940:F877C;ENSP00000400401:F873C;ENSP00000398481:F879C|.|.	ENSP00000325581:F873C|ENSP00000419418:F73V|.	F|F|I	-|-|-	2|1|3	0|0|3	CADPS2|CADPS2|CADPS2	121834940|121834940|121834940	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.926000|0.926000|0.926000	0.56050|0.56050|0.56050	9.307000|9.307000|9.307000	0.96226|0.96226|0.96226	2.069000|2.069000|2.069000	0.61940|0.61940|0.61940	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|TTT|ATT		0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
RNF148	378925	broad.mit.edu	37	7	122342077	122342077	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122342077A>G	ENST00000434824.1	-	1	944	c.728T>C	c.(727-729)gTt>gCt	p.V243A	CADPS2_ENST00000334010.7_Intron|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_3'UTR|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	243						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V243A(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TTCTTTGAGAACTCGCAGTTG	0.423																																					p.V243A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T728C	7						.						102.0	94.0	97.0					7																	122342077		1904	4127	6031	122129313	SO:0001583	missense	378925	exon1			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.728T>C	7.37:g.122342077A>G	ENSP00000388207:p.Val243Ala		122129313	NM_198085	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432785	0.25813	.	.	ENSG00000235631	ENST00000434824	T	0.04275	3.66	5.37	5.37	0.77165	.	.	.	.	.	T	0.06280	0.0162	L	0.55481	1.735	0.80722	D	1	B	0.29988	0.264	B	0.26864	0.074	T	0.31280	-0.9949	9	0.33141	T	0.24	.	10.9018	0.47056	0.8593:0.0:0.0:0.1407	.	243	Q8N7C7	RN148_HUMAN	A	243	ENSP00000388207:V243A	ENSP00000388207:V243A	V	-	2	0	RNF148	122129313	0.922000	0.31269	1.000000	0.80357	0.626000	0.37791	2.114000	0.41911	2.031000	0.59945	0.459000	0.35465	GTT		0.423	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
RNF148	378925	broad.mit.edu	37	7	122342791	122342791	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122342791C>A	ENST00000434824.1	-	1	230	c.14G>T	c.(13-15)aGa>aTa	p.R5I	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.R5I|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	5						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R5I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGGGGTAATTCTAAGGAAGCT	0.393																																					p.R5I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14T	7						.						22.0	20.0	21.0					7																	122342791		1860	4097	5957	122130027	SO:0001583	missense	378925	exon1			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.14G>T	7.37:g.122342791C>A	ENSP00000388207:p.Arg5Ile		122130027	NM_198085	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	0.529	-0.858662	0.02610	.	.	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.04603	3.59	5.4	2.56	0.30785	.	.	.	.	.	T	0.05044	0.0135	L	0.40543	1.245	0.09310	N	1	B;B	0.34015	0.372;0.435	B;B	0.34385	0.181;0.088	T	0.38178	-0.9673	9	0.72032	D	0.01	.	5.7986	0.18401	0.0:0.6655:0.1589:0.1756	.	5;5	C9JVJ0;Q8N7C7	.;RN148_HUMAN	I	5	ENSP00000388207:R5I	ENSP00000388207:R5I	R	-	2	0	RNF148	122130027	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.286000	0.08399	0.242000	0.21303	0.555000	0.69702	AGA		0.393	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
TAS2R16	50833	broad.mit.edu	37	7	122635175	122635175	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122635175T>G	ENST00000249284.2	-	1	579	c.514A>C	c.(514-516)Aat>Cat	p.N172H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	172			N -> K (associated with susceptibility to alcoholism; dbSNP:rs846664). {ECO:0000269|PubMed:16385453}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.N172H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATGAAAATTTTCAAGTTTG	0.408																																					p.N172H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A514C	7						.						158.0	144.0	148.0					7																	122635175		2203	4300	6503	122422411	SO:0001583	missense	50833	exon1			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.514A>C	7.37:g.122635175T>G	ENSP00000249284:p.Asn172His		122422411	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	T	9.188	1.025189	0.19433	.	.	ENSG00000128519	ENST00000249284	T	0.37411	1.2	4.45	-2.11	0.07187	.	2.895720	0.01993	N	0.045711	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.18561	0.022	T	0.19745	-1.0296	10	0.46703	T	0.11	.	4.9846	0.14183	0.0:0.3993:0.1765:0.4242	.	172	Q9NYV7	T2R16_HUMAN	H	172	ENSP00000249284:N172H	ENSP00000249284:N172H	N	-	1	0	TAS2R16	122422411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.847000	0.04331	-0.218000	0.10018	0.533000	0.62120	AAT		0.408	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945	
TAS2R16	50833	broad.mit.edu	37	7	122635343	122635343	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122635343G>T	ENST00000249284.2	-	1	411	c.346C>A	c.(346-348)Ctc>Atc	p.L116I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	116					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.L116I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCAGCCAGAGAAAGATGTGA	0.398																																					p.L116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C346A	7						.						80.0	78.0	79.0					7																	122635343		2203	4300	6503	122422579	SO:0001583	missense	50833	exon1			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.346C>A	7.37:g.122635343G>T	ENSP00000249284:p.Leu116Ile		122422579	NM_016945	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796358	0.31777	.	.	ENSG00000128519	ENST00000249284	T	0.01854	4.6	4.02	1.19	0.21007	.	0.270973	0.30584	N	0.009303	T	0.10423	0.0255	M	0.86420	2.815	0.22827	N	0.998689	D	0.76494	0.999	D	0.72625	0.978	T	0.03354	-1.1045	10	0.66056	D	0.02	.	5.7284	0.18026	0.3486:0.0:0.6514:0.0	.	116	Q9NYV7	T2R16_HUMAN	I	116	ENSP00000249284:L116I	ENSP00000249284:L116I	L	-	1	0	TAS2R16	122422579	0.968000	0.33430	0.659000	0.29680	0.176000	0.22953	-0.193000	0.09573	0.464000	0.27142	0.655000	0.94253	CTC		0.398	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945	
SLC13A1	6561	broad.mit.edu	37	7	122768993	122768993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122768993C>A	ENST00000194130.2	-	10	1078	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	347					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.E347*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GTCACAATTTCTTGATACCTG	0.423																																					p.E347X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1039T	7						.						69.0	61.0	63.0					7																	122768993		2203	4300	6503	122556229	SO:0001587	stop_gained	6561	exon10				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1039G>T	7.37:g.122768993C>A	ENSP00000194130:p.Glu347*		122556229	NM_022444	Q9H5Z0	Nonsense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	38	6.663946	0.97743	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0243	19.2443	0.93896	0.0:1.0:0.0:0.0	.	.	.	.	X	347	.	ENSP00000194130:E347X	E	-	1	0	SLC13A1	122556229	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.481000	0.73608	2.797000	0.96272	0.563000	0.77884	GAA		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
SLC13A1	6561	broad.mit.edu	37	7	122811867	122811867	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122811867C>A	ENST00000194130.2	-	3	359	c.320G>T	c.(319-321)aGa>aTa	p.R107I	SLC13A1_ENST00000539873.1_Missense_Mutation_p.R43I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	107					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.R107I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGAGCAATTCTCTTGTGCAA	0.378																																					p.R107I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320T	7						.						225.0	201.0	209.0					7																	122811867		2203	4300	6503	122599103	SO:0001583	missense	6561	exon3				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.320G>T	7.37:g.122811867C>A	ENSP00000194130:p.Arg107Ile		122599103	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084461	0.94100	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.14516	2.5;2.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68739	-0.5329	10	0.87932	D	0	.	18.7118	0.91659	0.0:1.0:0.0:0.0	.	107	Q9BZW2	S13A1_HUMAN	I	107;43	ENSP00000194130:R107I;ENSP00000441309:R43I	ENSP00000194130:R107I	R	-	2	0	SLC13A1	122599103	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.759000	0.85235	2.739000	0.93911	0.563000	0.77884	AGA		0.378	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
SLC13A1	6561	broad.mit.edu	37	7	122839996	122839996	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:122839996T>G	ENST00000194130.2	-	1	44	c.5A>C	c.(4-6)aAa>aCa	p.K2T		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	2					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.K2T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTGAAGAATTTCATTGTCCT	0.423																																					p.K2T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5C	7						.						106.0	83.0	91.0					7																	122839996		2202	4300	6502	122627232	SO:0001583	missense	6561	exon1				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.5A>C	7.37:g.122839996T>G	ENSP00000194130:p.Lys2Thr		122627232	NM_022444	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	T	8.142	0.785467	0.16189	.	.	ENSG00000081800	ENST00000194130	T	0.67171	-0.25	5.73	5.73	0.89815	.	0.556413	0.19398	N	0.115260	T	0.66733	0.2819	L	0.60455	1.87	0.80722	D	1	D	0.59767	0.986	P	0.47206	0.541	T	0.64334	-0.6432	10	0.24483	T	0.36	.	13.4061	0.60913	0.0:0.0:0.0:1.0	.	2	Q9BZW2	S13A1_HUMAN	T	2	ENSP00000194130:K2T	ENSP00000194130:K2T	K	-	2	0	SLC13A1	122627232	1.000000	0.71417	0.931000	0.37212	0.085000	0.17905	4.578000	0.60929	2.197000	0.70478	0.533000	0.62120	AAA		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
IQUB	154865	broad.mit.edu	37	7	123136907	123136907	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123136907C>T	ENST00000466202.1	-	7	1653	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	IQUB_ENST00000434450.1_Silent_p.E359E|IQUB_ENST00000324698.6_Silent_p.E359E	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	359	IQ.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.E359E(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTTAAATTCTCTACGAAGA	0.338																																					p.E359E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1077A	7						.						109.0	98.0	101.0					7																	123136907		2202	4299	6501	122924143	SO:0001819	synonymous_variant	154865	exon7			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1077G>A	7.37:g.123136907C>T			122924143	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																				0.338	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
LMOD2	442721	broad.mit.edu	37	7	123296065	123296065	+	Silent	SNP	C	C	T	rs542588014		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123296065C>T	ENST00000458573.2	+	1	205	c.48C>T	c.(46-48)atC>atT	p.I16I	LMOD2_ENST00000456238.2_Silent_p.I16I	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	16	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)		p.I16I(1)									ACGAATCCATCGACGAGGATG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20017	0.001		0.0	False		,,,				2504	0.0				p.I16I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C48T	7						.						40.0	42.0	42.0					7																	123296065		2000	4175	6175	123083301	SO:0001819	synonymous_variant	442721	exon1			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.48C>T	7.37:g.123296065C>T			123083301	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	CCDS47693.1																																																																																				0.547	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
LMOD2	442721	broad.mit.edu	37	7	123302482	123302482	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123302482C>T	ENST00000458573.2	+	2	999	c.842C>T	c.(841-843)aCg>aTg	p.T281M	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	281						cytoskeleton (GO:0005856)		p.T281M(2)									AACTTCATAACGGGAAAGGGG	0.552																																					p.T281M												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C842T	7						.						90.0	89.0	89.0					7																	123302482		2138	4243	6381	123089718	SO:0001583	missense	442721	exon2			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.842C>T	7.37:g.123302482C>T	ENSP00000411932:p.Thr281Met		123089718	NM_207163	A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169637	0.78452	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.93076	-3.16	5.35	5.35	0.76521	.	.	.	.	.	D	0.97340	0.9130	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97832	1.0263	9	0.87932	D	0	-11.2761	19.4255	0.94740	0.0:1.0:0.0:0.0	.	281	Q6P5Q4	LMOD2_HUMAN	M	281;241;252	ENSP00000411932:T281M	ENSP00000405123:T252M	T	+	2	0	LMOD2	123089718	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	3.890000	0.56220	2.648000	0.89879	0.591000	0.81541	ACG		0.552	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1		
WASL	8976	broad.mit.edu	37	7	123336703	123336703	+	Nonsense_Mutation	SNP	C	C	A	rs3209159		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123336703C>A	ENST00000223023.4	-	6	891	c.559G>T	c.(559-561)Gaa>Taa	p.E187*		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	187					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.E187*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTTCTTTTCTTTGGTATGG	0.353																																					p.E187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G559T	7						.						158.0	145.0	149.0					7																	123336703		2203	4300	6503	123123939	SO:0001587	stop_gained	8976	exon6			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.559G>T	7.37:g.123336703C>A	ENSP00000223023:p.Glu187*		123123939	NM_003941	A1JUI9|Q7Z746	Nonsense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	39	7.517875	0.98332	.	.	ENSG00000106299	ENST00000223023	.	.	.	5.97	5.97	0.96955	.	0.151890	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6209	20.4251	0.99070	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000223023:E187X	E	-	1	0	WASL	123123939	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.494000	0.60347	2.829000	0.97493	0.650000	0.86243	GAA		0.353	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
WASL	8976	broad.mit.edu	37	7	123346375	123346375	+	Missense_Mutation	SNP	C	C	T	rs200364266		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123346375C>T	ENST00000223023.4	-	4	724	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	131	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.R131Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGCTTTTCGAAATTTTTT	0.363																																					p.R131Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G392A	7						.						66.0	65.0	66.0					7																	123346375		2203	4300	6503	123133611	SO:0001583	missense	8976	exon4			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.392G>A	7.37:g.123346375C>T	ENSP00000223023:p.Arg131Gln		123133611	NM_003941	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566379	0.65651	.	.	ENSG00000106299	ENST00000223023	D	0.98701	-5.08	5.59	5.59	0.84812	EVH1 (3);Pleckstrin homology-type (1);	0.062086	0.64402	D	0.000004	D	0.96519	0.8864	L	0.39245	1.2	0.58432	D	0.999999	B	0.10296	0.003	B	0.11329	0.006	D	0.93616	0.6943	10	0.30854	T	0.27	-13.9486	14.1736	0.65527	0.0:0.9283:0.0:0.0717	.	131	O00401	WASL_HUMAN	Q	131	ENSP00000223023:R131Q	ENSP00000223023:R131Q	R	-	2	0	WASL	123133611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.437000	0.59955	2.783000	0.95769	0.655000	0.94253	CGA		0.363	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
HYAL4	23553	broad.mit.edu	37	7	123508381	123508381	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123508381T>A	ENST00000223026.4	+	3	692	c.54T>A	c.(52-54)caT>caA	p.H18Q	HYAL4_ENST00000476325.1_Missense_Mutation_p.H18Q	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	18					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.H18Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AACCAGTACATCTCACTTCAT	0.338																																					p.H18Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T54A	7						.						126.0	134.0	131.0					7																	123508381		2202	4300	6502	123295617	SO:0001583	missense	23553	exon3			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.54T>A	7.37:g.123508381T>A	ENSP00000223026:p.His18Gln		123295617	NM_012269	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974277	0.34848	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.16743	2.32;2.32	5.2	4.0	0.46444	.	0.276152	0.35291	N	0.003301	T	0.07818	0.0196	N	0.08118	0	0.27959	N	0.936865	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.004	T	0.22417	-1.0217	10	0.32370	T	0.25	-1.682	6.0243	0.19646	0.1638:0.0:0.1706:0.6656	.	18;18	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	Q	18	ENSP00000223026:H18Q;ENSP00000417186:H18Q	ENSP00000223026:H18Q	H	+	3	2	HYAL4	123295617	0.104000	0.21937	0.925000	0.36789	0.799000	0.45148	0.272000	0.18644	0.869000	0.35703	0.533000	0.62120	CAT		0.338	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
HYAL4	23553	broad.mit.edu	37	7	123509053	123509053	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123509053C>A	ENST00000223026.4	+	3	1364	c.726C>A	c.(724-726)gtC>gtA	p.V242V	HYAL4_ENST00000476325.1_Silent_p.V242V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	242					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.V242V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAGACGAAGTCTTGAGGAACA	0.453																																					p.V242V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726A	7						.						87.0	90.0	89.0					7																	123509053		2203	4300	6503	123296289	SO:0001819	synonymous_variant	23553	exon3			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.726C>A	7.37:g.123509053C>A			123296289	NM_012269	D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	CCDS5789.1																																																																																				0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
SPAM1	6677	broad.mit.edu	37	7	123595075	123595075	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123595075G>A	ENST00000439500.1	+	5	1592	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	SPAM1_ENST00000460182.1_Missense_Mutation_p.E327K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E327K|SPAM1_ENST00000340011.5_Missense_Mutation_p.E327K|SPAM1_ENST00000223028.7_Missense_Mutation_p.E327K	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	327					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.E327K(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACATTTGGCGAAACTGTTGC	0.373																																					p.E327K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G979A	7						.						218.0	215.0	216.0					7																	123595075		2203	4300	6503	123382311	SO:0001583	missense	6677	exon4			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.979G>A	7.37:g.123595075G>A	ENSP00000402123:p.Glu327Lys		123382311	NM_001174044	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441893	0.83993	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	6.02	6.02	0.97574	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.050751	0.85682	N	0.000000	T	0.63768	0.2539	M	0.92459	3.31	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71140	-0.4679	10	0.87932	D	0	-69.3012	19.5352	0.95251	0.0:0.0:1.0:0.0	.	327;327	Q8TC30;P38567	.;HYALP_HUMAN	K	327	ENSP00000386028:E327K;ENSP00000417934:E327K;ENSP00000345849:E327K;ENSP00000402123:E327K;ENSP00000223028:E327K	ENSP00000223028:E327K	E	+	1	0	SPAM1	123382311	1.000000	0.71417	0.992000	0.48379	0.237000	0.25408	6.989000	0.76219	2.850000	0.98022	0.650000	0.86243	GAA		0.373	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
SPAM1	6677	broad.mit.edu	37	7	123599597	123599597	+	Silent	SNP	C	C	T	rs373230630		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123599597C>T	ENST00000439500.1	+	6	1717	c.1104C>T	c.(1102-1104)aaC>aaT	p.N368N	SPAM1_ENST00000460182.1_Silent_p.N368N|SPAM1_ENST00000402183.2_Silent_p.N368N|SPAM1_ENST00000340011.5_Silent_p.N368N|SPAM1_ENST00000223028.7_Silent_p.N368N	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	368					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.N368N(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACATAATCAACGTCACACTAG	0.383																																					p.N368N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1104T	7						.						98.0	91.0	93.0					7																	123599597		2203	4300	6503	123386833	SO:0001819	synonymous_variant	6677	exon5			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1104C>T	7.37:g.123599597C>T			123386833	NM_001174044	Q8TC30	Silent	SNP	ENST00000439500.1	37	CCDS5791.1																																																																																				0.383	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
SCIN	85477	broad.mit.edu	37	7	12665401	12665401	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:12665401C>T	ENST00000297029.5	+	7	1008	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SCIN_ENST00000445618.2_Missense_Mutation_p.P56S|SCIN_ENST00000519209.1_Missense_Mutation_p.P56S|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	303	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P303S(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGATGCTAATCCCCAAGAGAG	0.348																																					p.P303S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C907T	7						.						73.0	69.0	70.0					7																	12665401		1814	4087	5901	12631926	SO:0001583	missense	85477	exon7			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.907C>T	7.37:g.12665401C>T	ENSP00000297029:p.Pro303Ser		12631926	NM_001112706	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	ENST00000297029.5	37	CCDS47545.1	.	.	.	.	.	.	.	.	.	.	C	9.738	1.164178	0.21538	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.56103	0.48;0.48;0.48	5.68	4.79	0.61399	Gelsolin domain (1);	0.174673	0.51477	D	0.000092	T	0.41673	0.1169	L	0.38649	1.16	0.44508	D	0.997458	B	0.02656	0.0	B	0.15052	0.012	T	0.22417	-1.0217	10	0.15952	T	0.53	-4.2362	13.6789	0.62472	0.281:0.719:0.0:0.0	.	303	Q9Y6U3	ADSV_HUMAN	S	303;56;56	ENSP00000297029:P303S;ENSP00000430997:P56S;ENSP00000390189:P56S	ENSP00000297029:P303S	P	+	1	0	SCIN	12631926	0.829000	0.29322	1.000000	0.80357	0.989000	0.77384	1.559000	0.36320	1.389000	0.46526	0.467000	0.42956	CCC		0.348	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128	
GRM8	2918	broad.mit.edu	37	7	126173578	126173578	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:126173578C>T	ENST00000339582.2	-	9	2666	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	GRM8_ENST00000358373.3_Missense_Mutation_p.E620K|GRM8_ENST00000444921.2_Missense_Mutation_p.E620K|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	620					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.E620K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TAACTAAGTTCGCGTCCTGAA	0.458										HNSCC(24;0.065)																											p.E620K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1858A	7						.						114.0	110.0	112.0					7																	126173578		2203	4300	6503	125960814	SO:0001583	missense	2918	exon9				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1858G>A	7.37:g.126173578C>T	ENSP00000344173:p.Glu620Lys		125960814	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964732	0.92791	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89270	-2.49;-2.49;-2.49	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.96773	0.9570	10	0.87932	D	0	.	18.8976	0.92430	0.0:1.0:0.0:0.0	.	620;620	O00222-2;O00222	.;GRM8_HUMAN	K	620	ENSP00000344173:E620K;ENSP00000409790:E620K;ENSP00000351142:E620K	ENSP00000344173:E620K	E	-	1	0	GRM8	125960814	1.000000	0.71417	0.964000	0.40570	0.923000	0.55619	7.811000	0.86092	2.723000	0.93209	0.643000	0.83706	GAA		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126542725	126542725	+	Nonsense_Mutation	SNP	G	G	A	rs554849639		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:126542725G>A	ENST00000339582.2	-	6	1835	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	GRM8_ENST00000405249.1_Nonsense_Mutation_p.R343*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R343*|GRM8_ENST00000444921.2_Nonsense_Mutation_p.R343*|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	343			R -> Q (in dbSNP:rs13309334). {ECO:0000269|PubMed:12853948}.		adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R343*(2)|p.R343G(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTAAAGTATCGATCAAATCCT	0.348										HNSCC(24;0.065)																											p.R343X												.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|endometrium(2)	c.C1027T	7						.						61.0	61.0	61.0					7																	126542725		2202	4300	6502	126329961	SO:0001587	stop_gained	2918	exon6				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1027C>T	7.37:g.126542725G>A	ENSP00000344173:p.Arg343*		126329961	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Nonsense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	36	5.810558	0.96975	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	.	.	.	4.88	4.88	0.63580	.	0.073633	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7604	0.57361	0.0:0.0:0.8247:0.1753	.	.	.	.	X	343	.	ENSP00000344173:R343X	R	-	1	2	GRM8	126329961	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.986000	0.56937	2.251000	0.74343	0.511000	0.50034	CGA		0.348	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126746620	126746620	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:126746620C>T	ENST00000339582.2	-	3	1465	c.657G>A	c.(655-657)tcG>tcA	p.S219S	GRM8_ENST00000405249.1_Silent_p.S219S|GRM8_ENST00000358373.3_Silent_p.S219S|GRM8_ENST00000444921.2_Silent_p.S219S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S219S(4)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGCCAGTGTCGAAACATAAT	0.493										HNSCC(24;0.065)																											p.S219S												.	.	4	Substitution - coding silent(4)	large_intestine(3)|ovary(1)	c.G657A	7						.						137.0	119.0	125.0					7																	126746620		2203	4300	6503	126533856	SO:0001819	synonymous_variant	2918	exon3				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.657G>A	7.37:g.126746620C>T			126533856	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
ZNF800	168850	broad.mit.edu	37	7	127026120	127026120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127026120G>A	ENST00000393313.1	-	3	742	c.151C>T	c.(151-153)Cga>Tga	p.R51*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.R51*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.R51*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	51					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.R51*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATACCTGATCGAAAGCACTCA	0.313																																					p.R51X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C151T	7						.						101.0	95.0	97.0					7																	127026120		2203	4300	6503	126813356	SO:0001587	stop_gained	168850	exon3			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.151C>T	7.37:g.127026120G>A	ENSP00000376989:p.Arg51*		126813356	NM_176814	Q9HBN0	Nonsense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	37	6.520801	0.97633	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6257	18.2091	0.89864	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000265827:R51X	R	-	1	2	ZNF800	126813356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.254000	0.78329	2.546000	0.85860	0.655000	0.94253	CGA		0.313	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
GCC1	79571	broad.mit.edu	37	7	127224309	127224309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127224309G>A	ENST00000321407.2	-	1	1352	c.928C>T	c.(928-930)Cga>Tga	p.R310*	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	310					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R310*(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTCATCTCGAATGGCCTGC	0.527											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R310X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C928T	7						.						102.0	98.0	99.0					7																	127224309		2203	4300	6503	127011545	SO:0001587	stop_gained	79571	exon1			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.928C>T	7.37:g.127224309G>A	ENSP00000318821:p.Arg310*	1555	127011545	NM_024523	Q9H6N7	Nonsense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991232	0.98599	.	.	ENSG00000179562	ENST00000321407	.	.	.	5.91	5.01	0.66863	.	0.338213	0.31312	N	0.007876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.2572	12.3341	0.55056	0.0:0.0:0.831:0.169	.	.	.	.	X	310	.	ENSP00000318821:R310X	R	-	1	2	GCC1	127011545	0.962000	0.33011	1.000000	0.80357	0.761000	0.43186	4.020000	0.57189	1.463000	0.47967	0.655000	0.94253	CGA		0.527	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
PAX4	5078	broad.mit.edu	37	7	127253509	127253509	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127253509C>T	ENST00000341640.2	-	5	821	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	PAX4_ENST00000338516.3_Missense_Mutation_p.V214M|PAX4_ENST00000463946.1_Missense_Mutation_p.V204M|PAX4_ENST00000378740.2_Missense_Mutation_p.V206M	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	214					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.V206M(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTCACCCTCACCGTGTCCTCA	0.582																																					p.V206M	Ovarian(113;737 1605 7858 27720 34092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	7						.						63.0	65.0	64.0					7																	127253509		2203	4300	6503	127040745	SO:0001583	missense	5078	exon5				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.616G>A	7.37:g.127253509C>T	ENSP00000339906:p.Val206Met		127040745	NM_006193	O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688040	0.68271	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.98550	-4.99;-4.99;-4.99	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.093158	0.44097	D	0.000491	D	0.99149	0.9706	H	0.96547	3.84	0.43662	D	0.996083	D;D;D;D	0.89917	0.982;0.998;0.993;1.0	D;D;D;D	0.79784	0.945;0.958;0.968;0.993	D	0.98971	1.0801	10	0.87932	D	0	.	9.8831	0.41245	0.0:0.9051:0.0:0.0949	.	206;204;214;204	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	M	206;214;214;204	ENSP00000339906:V206M;ENSP00000344297:V214M;ENSP00000451923:V204M	ENSP00000344297:V214M	V	-	1	0	PAX4	127040745	0.990000	0.36364	0.959000	0.39883	0.756000	0.42949	2.605000	0.46283	2.661000	0.90470	0.650000	0.86243	GTG		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
PAX4	5078	broad.mit.edu	37	7	127254558	127254558	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127254558C>T	ENST00000341640.2	-	3	595	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PAX4_ENST00000338516.3_Silent_p.P138P|PAX4_ENST00000463946.1_Silent_p.P128P|PAX4_ENST00000378740.2_Silent_p.P130P	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	138	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P130P(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCGTGTGCACGGTAGTCCCT	0.547																																					p.P130P	Ovarian(113;737 1605 7858 27720 34092)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G390A	7						.						103.0	74.0	84.0					7																	127254558		2203	4300	6503	127041794	SO:0001819	synonymous_variant	5078	exon3				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.390G>A	7.37:g.127254558C>T			127041794	NM_006193	O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	CCDS5797.1																																																																																				0.547	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
SND1	27044	broad.mit.edu	37	7	127544815	127544815	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127544815C>T	ENST00000354725.3	+	14	1664	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	490	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.G490G(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTAAGAATGGCAAAGGATTGC	0.453																																					p.G490G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470T	7						.						149.0	137.0	141.0					7																	127544815		2203	4300	6503	127332051	SO:0001819	synonymous_variant	27044	exon14				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1470C>T	7.37:g.127544815C>T			127332051	NM_014390	Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.453	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390	
LRRC4	64101	broad.mit.edu	37	7	127669478	127669478	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127669478C>T	ENST00000249363.3	-	2	1473	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	406	Ig-like.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D406N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AAGGTGCCGTCGTTGAGGACA	0.577																																					p.D406N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	7						.						113.0	95.0	101.0					7																	127669478		2203	4300	6503	127456714	SO:0001583	missense	64101	exon2			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1216G>A	7.37:g.127669478C>T	ENSP00000249363:p.Asp406Asn		127456714	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231418	0.58777	.	.	ENSG00000128594	ENST00000249363	T	0.40756	1.02	4.4	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.50137	0.1598	L	0.36672	1.1	0.58432	D	0.999999	D	0.67145	0.996	D	0.63488	0.915	T	0.40270	-0.9572	10	0.30854	T	0.27	.	14.5186	0.67835	0.0:1.0:0.0:0.0	.	406	Q9HBW1	LRRC4_HUMAN	N	406	ENSP00000249363:D406N	ENSP00000249363:D406N	D	-	1	0	LRRC4	127456714	1.000000	0.71417	0.260000	0.24451	0.878000	0.50629	7.638000	0.83328	2.268000	0.75426	0.655000	0.94253	GAC		0.577	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
LEP	3952	broad.mit.edu	37	7	127894714	127894714	+	Silent	SNP	C	C	T	rs372892330		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:127894714C>T	ENST00000308868.4	+	3	453	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	134					adipose tissue development (GO:0060612)|adult feeding behavior (GO:0008343)|bile acid metabolic process (GO:0008206)|bone mineralization involved in bone maturation (GO:0035630)|cellular response to L-ascorbic acid (GO:0071298)|cellular response to retinoic acid (GO:0071300)|central nervous system neuron development (GO:0021954)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|fatty acid beta-oxidation (GO:0006635)|female pregnancy (GO:0007565)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process (GO:0006114)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|leptin-mediated signaling pathway (GO:0033210)|leukocyte tethering or rolling (GO:0050901)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of cartilage development (GO:0061037)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of glutamine transport (GO:2000486)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vasoconstriction (GO:0045906)|ovulation from ovarian follicle (GO:0001542)|placenta development (GO:0001890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of developmental growth (GO:0048639)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of ion transport (GO:0043270)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of blood pressure (GO:0008217)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis (GO:0006111)|regulation of insulin secretion (GO:0050796)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of lipoprotein lipid oxidation (GO:0060587)|regulation of steroid biosynthetic process (GO:0050810)|response to dietary excess (GO:0002021)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to vitamin E (GO:0033197)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V134V(1)		endometrium(1)|large_intestine(2)|lung(5)	8						TGGGGGGTGTCCTGGAAGCTT	0.632																																					p.V134V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	7						.	C		1,4405	2.1+/-5.4	0,1,2202	35.0	36.0	36.0		402	4.8	0.9	7		36	0,8600		0,0,4300	no	coding-synonymous	LEP	NM_000230.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		134/168	127894714	1,13005	2203	4300	6503	127681950	SO:0001819	synonymous_variant	3952	exon3				CCDS5800.1	7q31	2008-03-06	2008-03-06		ENSG00000174697	ENSG00000174697			6553	protein-coding gene	gene with protein product		164160	"""leptin (murine obesity homolog)"", ""leptin (obesity homolog, mouse)"""	OBS, OB		1686014, 16932309	Standard	NM_000230		Approved		uc003vml.2	P41159	OTTHUMG00000157564	ENST00000308868.4:c.402C>T	7.37:g.127894714C>T			127681950	NM_000230	O15158|Q56A88	Silent	SNP	ENST00000308868.4	37	CCDS5800.1																																																																																				0.632	LEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349174.1		
METTL2B	55798	broad.mit.edu	37	7	128119309	128119309	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128119309C>A	ENST00000262432.8	+	3	337	c.300C>A	c.(298-300)ttC>ttA	p.F100L	METTL2B_ENST00000480046.1_Missense_Mutation_p.F35L|RP11-212P7.3_ENST00000462662.1_RNA	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	100					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)	p.F100L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTACCGAATTCCCTGAGCTGG	0.393																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300A	7						.						59.0	60.0	59.0					7																	128119309		2203	4297	6500	127906545	SO:0001583	missense	55798	exon3			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.300C>A	7.37:g.128119309C>A	ENSP00000262432:p.Phe100Leu		127906545	NM_018396	B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034083	0.54896	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.03124	4.04;4.04;4.04	2.86	0.16	0.14972	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.87381	2.88	0.50039	D	0.999845	D;D	0.62365	0.991;0.972	P;P	0.57548	0.823;0.728	T	0.01280	-1.1397	10	0.87932	D	0	-3.2708	6.4034	0.21650	0.0:0.614:0.0:0.386	.	35;100	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	L	94;100;35	ENSP00000418634:F94L;ENSP00000262432:F100L;ENSP00000418402:F35L	ENSP00000262432:F100L	F	+	3	2	METTL2B	127906545	0.994000	0.37717	0.994000	0.49952	0.590000	0.36582	0.393000	0.20817	0.100000	0.17581	0.405000	0.27470	TTC		0.393	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396	
FAM71F2	346653	broad.mit.edu	37	7	128315725	128315725	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128315725C>A	ENST00000480462.1	+	2	283	c.177C>A	c.(175-177)ttC>ttA	p.F59L	FAM71F2_ENST00000477515.1_Missense_Mutation_p.F59L|FAM71F2_ENST00000378704.3_Intron|FAM71F2_ENST00000460349.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	59								p.F59L(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AGGCTGATTTCCAGGTCACTA	0.572																																					p.F59L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C177A	7						.						52.0	55.0	54.0					7																	128315725		1988	4171	6159	128102961	SO:0001583	missense	346653	exon2			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.177C>A	7.37:g.128315725C>A	ENSP00000420140:p.Phe59Leu		128102961	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.031917	0.02029	.	.	ENSG00000205085	ENST00000480462;ENST00000477515	T;T	0.29142	3.41;1.58	4.67	0.799	0.18667	.	.	.	.	.	T	0.16214	0.0390	N	0.08118	0	0.58432	D	0.999997	P	0.46784	0.884	B	0.43838	0.433	T	0.06215	-1.0839	9	0.87932	D	0	-7.5279	6.9166	0.24363	0.0:0.6402:0.0:0.3598	.	59	Q6NXP2	F71F2_HUMAN	L	59	ENSP00000420140:F59L;ENSP00000419649:F59L	ENSP00000419649:F59L	F	+	3	2	FAM71F2	128102961	0.552000	0.26505	0.793000	0.32043	0.221000	0.24807	-0.200000	0.09478	0.288000	0.22398	0.557000	0.71058	TTC		0.572	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1		
FAM71F2	346653	broad.mit.edu	37	7	128317694	128317694	+	Missense_Mutation	SNP	G	G	A	rs200938500		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128317694G>A	ENST00000480462.1	+	3	548	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E139K|FAM71F2_ENST00000460349.1_3'UTR			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	148								p.E148K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GACAGTGACCGAAAAGATCTA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13672	0.0		0.0	False		,,,				2504	0.0				p.E148K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	7						.						51.0	53.0	53.0					7																	128317694		1957	4175	6132	128104930	SO:0001583	missense	346653	exon3			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.442G>A	7.37:g.128317694G>A	ENSP00000420140:p.Glu148Lys		128104930	NM_001012454	Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	CCDS47701.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.25	3.341256	0.60963	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.6	5.6	0.85130	.	0.000000	0.49916	D	0.000130	T	0.45316	0.1336	M	0.68593	2.085	0.36831	D	0.886919	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.50285	-0.8846	10	0.56958	D	0.05	-9.5975	15.1095	0.72343	0.0:0.0:1.0:0.0	.	139;148	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	K	139;148;139;139	ENSP00000418907:E139K;ENSP00000420140:E148K;ENSP00000367976:E139K;ENSP00000401654:E139K	ENSP00000367976:E139K	E	+	1	0	FAM71F2	128104930	0.906000	0.30813	0.699000	0.30290	0.298000	0.27526	3.289000	0.51747	2.628000	0.89032	0.650000	0.86243	GAA		0.498	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1		
CALU	813	broad.mit.edu	37	7	128394424	128394424	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128394424G>T	ENST00000249364.4	+	3	432	c.330G>T	c.(328-330)gaG>gaT	p.E110D	CALU_ENST00000449187.2_Intron|CALU_ENST00000535623.1_Missense_Mutation_p.E118D|CALU_ENST00000479257.1_Missense_Mutation_p.E118D|CALU_ENST00000542996.2_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.E110D|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	110	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)	p.E110D(1)		kidney(2)|large_intestine(3)|lung(5)	10						AGGATGTAGAGCGACAGTGGA	0.478																																					p.E110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	7						.						136.0	117.0	123.0					7																	128394424		2203	4300	6503	128181660	SO:0001583	missense	813	exon3			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.330G>T	7.37:g.128394424G>T	ENSP00000249364:p.Glu110Asp		128181660	NM_001219	B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	ENST00000249364.4	37	CCDS5805.1	.	.	.	.	.	.	.	.	.	.	G	9.802	1.180828	0.21787	.	.	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.96	4.14	0.48551	EF-hand-like domain (1);	0.049750	0.85682	D	0.000000	T	0.45377	0.1339	N	0.04705	-0.18	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34204	-0.9838	10	0.12103	T	0.63	-15.8581	10.9339	0.47235	0.1551:0.0:0.8449:0.0	.	110	O43852	CALU_HUMAN	D	118;110;110;110;118	ENSP00000439139:E118D;ENSP00000442110:E110D;ENSP00000249364:E110D;ENSP00000420381:E118D	ENSP00000249364:E110D	E	+	3	2	CALU	128181660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.916000	0.28651	1.521000	0.48983	0.655000	0.94253	GAG		0.478	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350533.1	NM_001219	
CCDC136	64753	broad.mit.edu	37	7	128441290	128441290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128441290G>T	ENST00000297788.4	+	4	764	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E183*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E183*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E133*	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	133	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.E133*(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCATGAGAAAGAAAGCGAACT	0.488																																					p.E133X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G397T	7						.						75.0	74.0	74.0					7																	128441290		1948	4157	6105	128228526	SO:0001587	stop_gained	64753	exon4				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.397G>T	7.37:g.128441290G>T	ENSP00000297788:p.Glu133*		128228526	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Nonsense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.236453|6.236453	0.97399|0.97399	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000485998;ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	.|T	.|0.57752	.|0.38	5.65|5.65	4.74|4.74	0.60224|0.60224	.|.	0.157561|.	0.56097|.	D|.	0.000031|.	.|T	.|0.65821	.|0.2728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75731	.|-0.3215	.|5	0.37606|0.66056	T|D	0.19|0.02	-6.9233|-6.9233	14.0126|14.0126	0.64507|0.64507	0.0:0.1527:0.8473:0.0|0.0:0.1527:0.8473:0.0	.|.	.|.	.|.	.|.	X|N	133;183;183;133;133;133;133|9	.|ENSP00000417931:K9N	ENSP00000297788:E133X|ENSP00000417931:K9N	E|K	+|+	1|3	0|2	CCDC136|CCDC136	128228526|128228526	1.000000|1.000000	0.71417|0.71417	0.399000|0.399000	0.26333|0.26333	0.381000|0.381000	0.30169|0.30169	5.994000|5.994000	0.70623|0.70623	1.325000|1.325000	0.45301|0.45301	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
CCDC136	64753	broad.mit.edu	37	7	128451962	128451962	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128451962C>T	ENST00000297788.4	+	13	2504	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	713						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R713W(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTAGAGGAGCGGAAGAGGCT	0.567																																					p.R713W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2137T	7						.						64.0	66.0	66.0					7																	128451962		1919	4141	6060	128239198	SO:0001583	missense	64753	exon13				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2137C>T	7.37:g.128451962C>T	ENSP00000297788:p.Arg713Trp		128239198	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059376	0.55325	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T;T	0.57595	0.39;0.39	5.93	5.04	0.67666	.	0.334859	0.25951	N	0.027241	T	0.48857	0.1523	M	0.71581	2.175	0.30602	N	0.760458	P;B;B	0.36599	0.56;0.308;0.2	B;B;B	0.30179	0.112;0.067;0.046	T	0.60234	-0.7303	10	0.59425	D	0.04	-15.005	11.3654	0.49668	0.0:0.9159:0.0:0.0841	.	713;713;713	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	W	713;713;713;304	ENSP00000297788:R713W;ENSP00000417991:R304W	ENSP00000297788:R713W	R	+	1	2	CCDC136	128239198	0.674000	0.27549	0.999000	0.59377	0.991000	0.79684	1.806000	0.38892	1.494000	0.48533	0.561000	0.74099	CGG		0.567	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
FLNC	2318	broad.mit.edu	37	7	128483556	128483556	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128483556C>T	ENST00000325888.8	+	18	2997	c.2736C>T	c.(2734-2736)ggC>ggT	p.G912G	FLNC_ENST00000346177.6_Silent_p.G912G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	912					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G912G(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCCAAGGGCGAGGTTGTGC	0.592																																					p.G912G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2736T	7						.						90.0	101.0	97.0					7																	128483556		2149	4244	6393	128270792	SO:0001819	synonymous_variant	2318	exon18			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2736C>T	7.37:g.128483556C>T			128270792	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.592	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
FLNC	2318	broad.mit.edu	37	7	128492797	128492797	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:128492797C>A	ENST00000325888.8	+	36	6256	c.5995C>A	c.(5995-5997)Cgg>Agg	p.R1999R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.R1966R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1999					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R1999R(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTGCCCAACCGGCACATTGG	0.652																																					p.R1999R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5995A	7						.						42.0	47.0	45.0					7																	128492797		2021	4183	6204	128280033	SO:0001819	synonymous_variant	2318	exon36			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5995C>A	7.37:g.128492797C>A			128280033	NM_001458	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
AHCYL2	23382	broad.mit.edu	37	7	129040170	129040170	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129040170A>G	ENST00000325006.3	+	6	917	c.863A>G	c.(862-864)gAc>gGc	p.D288G	AHCYL2_ENST00000490911.1_Missense_Mutation_p.D185G|AHCYL2_ENST00000446212.1_Missense_Mutation_p.D186G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.D287G|AHCYL2_ENST00000531335.2_Missense_Mutation_p.D207G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.D185G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	288					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.D288G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TCAGAAGATGACTTTTGGTGG	0.448																																					p.D288G	Pancreas(160;1736 1964 29875 40941 45605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A863G	7						.						194.0	190.0	191.0					7																	129040170		2203	4300	6503	128827406	SO:0001583	missense	23382	exon6			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.863A>G	7.37:g.129040170A>G	ENSP00000315931:p.Asp288Gly		128827406	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	30|30	5.051686|5.051686	0.93793|0.93793	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.77098|.	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76615|0.76615	0.4012|0.4012	M|M	0.82517|0.82517	2.595|2.595	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.65815|.	0.969;0.969;0.995;0.969;0.993|.	P;P;D;P;P|.	0.65773|.	0.896;0.896;0.938;0.896;0.898|.	T|T	0.78984|0.78984	-0.1988|-0.1988	10|5	0.87932|.	D|.	0|.	-13.2448|-13.2448	13.7453|13.7453	0.62872|0.62872	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	185;186;288;185;287|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	G|A	288;287;207;185;186;185|195	ENSP00000315931:D288G;ENSP00000413639:D287G;ENSP00000431787:D207G;ENSP00000420459:D185G;ENSP00000405267:D186G;ENSP00000420801:D185G|.	ENSP00000315931:D288G|.	D|T	+|+	2|1	0|0	AHCYL2|AHCYL2	128827406|128827406	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.884000|8.884000	0.92432|0.92432	1.980000|1.980000	0.57719|0.57719	0.460000|0.460000	0.39030|0.39030	GAC|ACT		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
AHCYL2	23382	broad.mit.edu	37	7	129045015	129045015	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129045015T>G	ENST00000325006.3	+	8	1157	c.1103T>G	c.(1102-1104)tTt>tGt	p.F368C	RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000490911.1_Missense_Mutation_p.F265C|AHCYL2_ENST00000446212.1_Missense_Mutation_p.F266C|AHCYL2_ENST00000446544.2_Missense_Mutation_p.F367C|AHCYL2_ENST00000531335.2_Missense_Mutation_p.F287C|AHCYL2_ENST00000474594.1_Missense_Mutation_p.F265C	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	368					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.F368C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						AAACAGAAATTTGACAACCTC	0.418																																					p.F368C	Pancreas(160;1736 1964 29875 40941 45605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1103G	7						.						198.0	190.0	193.0					7																	129045015		2203	4300	6503	128832251	SO:0001583	missense	23382	exon8			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1103T>G	7.37:g.129045015T>G	ENSP00000315931:p.Phe368Cys		128832251	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689860|4.689860	0.88735|0.88735	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	D;D;D;D;D;D|.	0.82526|.	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	H|H	0.96365|0.96365	3.81|3.81	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.998;0.998;0.999;0.998;0.998|.	D|D	0.90960|0.90960	0.4812|0.4812	10|5	0.87932|.	D|.	0|.	-13.6816|-13.6816	14.1334|14.1334	0.65270|0.65270	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	265;266;368;265;367|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	C|V	368;367;287;265;266;265|275	ENSP00000315931:F368C;ENSP00000413639:F367C;ENSP00000431787:F287C;ENSP00000420459:F265C;ENSP00000405267:F266C;ENSP00000420801:F265C|.	ENSP00000315931:F368C|.	F|L	+|+	2|1	0|2	AHCYL2|AHCYL2	128832251|128832251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.739000|7.739000	0.84976|0.84976	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.418	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
NRF1	4899	broad.mit.edu	37	7	129357071	129357071	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129357071T>C	ENST00000393232.1	+	9	1195	c.1078T>C	c.(1078-1080)Tgg>Cgg	p.W360R	NRF1_ENST00000223190.4_Missense_Mutation_p.W360R|NRF1_ENST00000393231.3_Missense_Mutation_p.W360R|NRF1_ENST00000311967.2_Missense_Mutation_p.W360R|NRF1_ENST00000539636.1_Missense_Mutation_p.W199R|NRF1_ENST00000353868.4_Missense_Mutation_p.W294R|NRF1_ENST00000393230.2_Missense_Mutation_p.W360R	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	360	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.W360R(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGAACAAAATTGGGCCACGTT	0.468																																					p.W360R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1078C	7						.						68.0	66.0	67.0					7																	129357071		2203	4300	6503	129144307	SO:0001583	missense	4899	exon9			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1078T>C	7.37:g.129357071T>C	ENSP00000376924:p.Trp360Arg		129144307	NM_005011	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186166	0.78789	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	N	0.22421	0.69	0.80722	D	1	P;D	0.61697	0.907;0.99	B;D	0.72982	0.246;0.979	T	0.65479	-0.6158	9	0.46703	T	0.11	-7.1233	14.8785	0.70513	0.0:0.0:0.0:1.0	.	360;360	Q96AN2;Q16656	.;NRF1_HUMAN	R	360;294;199;360;360;360;360	.	ENSP00000223190:W360R	W	+	1	0	NRF1	129144307	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.694000	0.84235	2.115000	0.64714	0.529000	0.55759	TGG		0.468	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	
ZC3HC1	51530	broad.mit.edu	37	7	129658533	129658533	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129658533G>A	ENST00000358303.4	-	10	1564	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R451W|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R423W|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R473W|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	494					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R494W(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					TCCCACTGCCGAAATATTCGG	0.398																																					p.R494W	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1480T	7						.						96.0	101.0	99.0					7																	129658533		2203	4300	6503	129445769	SO:0001583	missense	51530	exon10			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1480C>T	7.37:g.129658533G>A	ENSP00000351052:p.Arg494Trp		129445769	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215685	0.79352	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.56611	1.12;0.57;1.14;0.45	6.17	6.17	0.99709	.	0.067008	0.64402	D	0.000008	T	0.70395	0.3219	L	0.59436	1.845	0.52501	D	0.999951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.994;0.994	T	0.70339	-0.4899	10	0.87932	D	0	-19.2943	17.5987	0.88020	0.0:0.0:1.0:0.0	.	423;494;451	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	W	494;423;473;451	ENSP00000351052:R494W;ENSP00000353933:R423W;ENSP00000309301:R473W;ENSP00000418533:R451W	ENSP00000309301:R473W	R	-	1	2	ZC3HC1	129445769	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	5.019000	0.64060	2.941000	0.99782	0.655000	0.94253	CGG		0.398	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
ZC3HC1	51530	broad.mit.edu	37	7	129668806	129668806	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129668806A>C	ENST00000358303.4	-	5	641	c.557T>G	c.(556-558)tTt>tGt	p.F186C	RP11-306G20.1_ENST00000587038.1_RNA|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.F186C|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.F186C|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.F165C|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	186	F-box-like.				mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.F186C(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAGGCTTTGAAAACGATCTAG	0.453																																					p.F186C	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T557G	7						.						65.0	63.0	64.0					7																	129668806		2203	4300	6503	129456042	SO:0001583	missense	51530	exon5			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.557T>G	7.37:g.129668806A>C	ENSP00000351052:p.Phe186Cys		129456042	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407280	0.62399	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.43294	1.5;0.95;1.52;1.02	5.82	5.82	0.92795	Zinc finger, C3HC-like (1);	0.177391	0.52532	D	0.000064	T	0.51312	0.1667	N	0.25890	0.77	0.51767	D	0.999934	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.85130	0.992;0.997;0.914	T	0.48547	-0.9026	10	0.35671	T	0.21	-24.1432	15.0031	0.71489	1.0:0.0:0.0:0.0	.	186;186;186	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	C	186;186;165;186	ENSP00000351052:F186C;ENSP00000353933:F186C;ENSP00000309301:F165C;ENSP00000418533:F186C	ENSP00000309301:F165C	F	-	2	0	ZC3HC1	129456042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.456000	0.73501	2.229000	0.72834	0.523000	0.50628	TTT		0.453	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
ZC3HC1	51530	broad.mit.edu	37	7	129691182	129691182	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129691182C>A	ENST00000358303.4	-	1	109	c.25G>T	c.(25-27)Gcg>Tcg	p.A9S	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A9S|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A9S|ZC3HC1_ENST00000311873.5_5'UTR	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	9					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A9S(1)		endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					ACGGCAAACGCTTGTCCCTCA	0.592																																					p.A9S	Melanoma(115;540 1606 16325 28853 48167)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25T	7						.						51.0	53.0	52.0					7																	129691182		2203	4300	6503	129478418	SO:0001583	missense	51530	exon1			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.25G>T	7.37:g.129691182C>A	ENSP00000351052:p.Ala9Ser		129478418	NM_016478	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	7.610	0.674647	0.14841	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000481503;ENST00000480193	T;T;T	0.44881	1.5;0.92;0.91	5.2	2.21	0.28008	.	0.837369	0.10454	N	0.672712	T	0.18045	0.0433	N	0.03608	-0.345	0.21220	N	0.999755	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.30854	T	0.27	-0.01	4.4121	0.11438	0.1428:0.5635:0.2088:0.0849	.	9	Q86WB0	NIPA_HUMAN	S	9	ENSP00000351052:A9S;ENSP00000353933:A9S;ENSP00000418533:A9S	ENSP00000351052:A9S	A	-	1	0	ZC3HC1	129478418	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	-0.627000	0.05521	0.249000	0.21456	0.561000	0.74099	GCG		0.592	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478	
CPA5	93979	broad.mit.edu	37	7	129987642	129987642	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:129987642A>C	ENST00000485477.1	+	3	1281	c.152A>C	c.(151-153)aAg>aCg	p.K51T	CPA5_ENST00000431780.2_Missense_Mutation_p.K51T|CPA5_ENST00000474905.1_Missense_Mutation_p.K51T|CPA5_ENST00000461828.1_Missense_Mutation_p.K51T|CPA5_ENST00000393213.3_Missense_Mutation_p.K51T|CPA5_ENST00000355388.3_Missense_Mutation_p.K51T|CPA5_ENST00000466363.2_Missense_Mutation_p.K51T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	51						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K51T(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AAAGATGAGAAGCAGCTTTCA	0.582																																					p.K51T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A152C	7						.						75.0	70.0	71.0					7																	129987642		2203	4300	6503	129774878	SO:0001583	missense	93979	exon5			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.152A>C	7.37:g.129987642A>C	ENSP00000420237:p.Lys51Thr		129774878	NM_001127441	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485704	0.26686	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.63	-1.42	0.08913	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.806159	0.11253	N	0.583444	T	0.07503	0.0189	L	0.34521	1.04	0.29834	N	0.829772	B;B	0.20988	0.05;0.007	B;B	0.18561	0.022;0.014	T	0.37384	-0.9708	9	.	.	.	.	1.1113	0.01704	0.3936:0.2983:0.164:0.1441	.	51;51	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	T	51	ENSP00000347549:K51T;ENSP00000420060:K51T;ENSP00000418183:K51T;ENSP00000419025:K51T;ENSP00000420237:K51T;ENSP00000393045:K51T;ENSP00000417314:K51T;ENSP00000376907:K51T	.	K	+	2	0	CPA5	129774878	0.999000	0.42202	0.945000	0.38365	0.818000	0.46254	0.944000	0.29043	-0.151000	0.11176	-0.313000	0.08912	AAG		0.582	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441	
CPA5	93979	broad.mit.edu	37	7	130001023	130001023	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130001023G>A	ENST00000485477.1	+	6	1601	c.472G>A	c.(472-474)Gat>Aat	p.D158N	CPA5_ENST00000431780.2_Missense_Mutation_p.D158N|CPA5_ENST00000474905.1_Missense_Mutation_p.D158N|CPA5_ENST00000461828.1_Missense_Mutation_p.D158N|CPA5_ENST00000393213.3_Missense_Mutation_p.D158N|CPA5_ENST00000355388.3_Missense_Mutation_p.D158N|CPA5_ENST00000466363.2_Missense_Mutation_p.D158N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	158						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D158N(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGAGCATTCCGATATTGTCTC	0.418																																					p.D158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	7						.						106.0	97.0	100.0					7																	130001023		2203	4300	6503	129788259	SO:0001583	missense	93979	exon8			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.472G>A	7.37:g.130001023G>A	ENSP00000420237:p.Asp158Asn		129788259	NM_001127441	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	1.468	-0.560517	0.03939	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.03441	3.93;3.93;3.93;3.93;3.93;3.93;3.93	6.17	0.237	0.15475	Peptidase M14, carboxypeptidase A (2);	0.285799	0.30547	N	0.009398	T	0.01661	0.0053	N	0.04090	-0.28	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.49390	-0.8945	9	.	.	.	.	8.9112	0.35555	0.5259:0.0:0.4741:0.0	.	158;158	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	N	158	ENSP00000347549:D158N;ENSP00000418183:D158N;ENSP00000419025:D158N;ENSP00000420237:D158N;ENSP00000393045:D158N;ENSP00000417314:D158N;ENSP00000376907:D158N	.	D	+	1	0	CPA5	129788259	0.039000	0.19947	0.788000	0.31933	0.323000	0.28346	0.478000	0.22212	0.191000	0.20236	-0.700000	0.03674	GAT		0.418	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441	
CEP41	95681	broad.mit.edu	37	7	130042563	130042563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130042563G>T	ENST00000223208.5	-	7	770	c.500C>A	c.(499-501)cCt>cAt	p.P167H	CEP41_ENST00000541543.1_Missense_Mutation_p.P151H|CEP41_ENST00000343969.5_Missense_Mutation_p.P167H	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	167					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)		p.P167H(1)									GTCAGGATAAGGTTTGTCTTT	0.483																																					p.P167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	7						.						314.0	278.0	290.0					7																	130042563		2203	4300	6503	129829799	SO:0001583	missense	95681	exon7			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.500C>A	7.37:g.130042563G>T	ENSP00000223208:p.Pro167His		129829799	NM_018718	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838610	0.91117	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282	D;D;D;D;D;D;D	0.89939	-2.59;-2.25;-2.56;-2.22;-2.24;-2.31;-2.26	5.83	5.83	0.93111	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	D	0.94212	0.8142	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.976;0.995	D	0.94023	0.7294	10	0.62326	D	0.03	-14.2869	18.7012	0.91620	0.0:0.0:1.0:0.0	.	151;167;167	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	H	167;151;167;132;132;164;132	ENSP00000223208:P167H;ENSP00000445888:P151H;ENSP00000342738:P167H;ENSP00000419192:P132H;ENSP00000417593:P132H;ENSP00000420670:P164H;ENSP00000418363:P132H	ENSP00000223208:P167H	P	-	2	0	TSGA14	129829799	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	7.910000	0.87451	2.763000	0.94921	0.563000	0.77884	CCT		0.483	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718	
MEST	4232	broad.mit.edu	37	7	130135349	130135349	+	Missense_Mutation	SNP	G	G	A	rs561353737		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130135349G>A	ENST00000223215.4	+	2	388	c.167G>A	c.(166-168)cGt>cAt	p.R56H	MEST_ENST00000378576.4_Missense_Mutation_p.R47H|MEST_ENST00000341441.5_Missense_Mutation_p.R47H|MEST_ENST00000437945.1_Missense_Mutation_p.R56H|MIR335_ENST00000362173.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.R47H|MEST_ENST00000416162.2_Missense_Mutation_p.R47H|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	56					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.R56H(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AAGGGACTGCGTATCTTCTAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19354	0.0		0.0	False		,,,				2504	0.001				p.R56H	Colon(126;2182 2305 6517 35181)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	7						.						79.0	65.0	70.0					7																	130135349		2203	4300	6503	129922585	SO:0001583	missense	4232	exon2				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.167G>A	7.37:g.130135349G>A	ENSP00000223215:p.Arg56His		129922585	NM_002402	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089848	0.36855	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000399874;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161	T;T;T;T;T;T;T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59	5.4	2.63	0.31362	.	0.520095	0.23575	N	0.046709	T	0.03477	0.0100	N	0.17082	0.46	0.28282	N	0.92393	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.30416	-0.9979	10	0.56958	D	0.05	.	9.1357	0.36872	0.3555:0.0:0.6445:0.0	.	56;56;47	C9JW74;Q5EB52;Q5EB52-3	.;MEST_HUMAN;.	H	47;47;47;47;47;47;47;47;56;56;47;47	ENSP00000342749:R47H;ENSP00000409505:R47H;ENSP00000408933:R47H;ENSP00000367839:R47H;ENSP00000390589:R47H;ENSP00000409768:R47H;ENSP00000376884:R47H;ENSP00000407222:R47H;ENSP00000223215:R56H;ENSP00000401657:R56H;ENSP00000393709:R47H	ENSP00000223215:R56H	R	+	2	0	MEST	129922585	0.996000	0.38824	0.999000	0.59377	0.983000	0.72400	2.598000	0.46223	0.348000	0.23949	0.655000	0.94253	CGT		0.502	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	
MEST	4232	broad.mit.edu	37	7	130139729	130139729	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130139729G>T	ENST00000223215.4	+	7	770	c.549G>T	c.(547-549)gaG>gaT	p.E183D	MEST_ENST00000378576.4_Missense_Mutation_p.E174D|MEST_ENST00000341441.5_Missense_Mutation_p.E174D|MEST_ENST00000437945.1_Missense_Mutation_p.E183D|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.E174D|MEST_ENST00000416162.2_Missense_Mutation_p.E174D|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	183					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.E183D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TCTTTCCTGAGACTCACCGTC	0.398																																					p.E183D	Colon(126;2182 2305 6517 35181)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G549T	7						.						104.0	94.0	97.0					7																	130139729		2203	4300	6503	129926965	SO:0001583	missense	4232	exon7				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.549G>T	7.37:g.130139729G>T	ENSP00000223215:p.Glu183Asp		129926965	NM_002402	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611577	0.87258	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945	T;T;T;T;T;T;T;T	0.67171	-0.2;-0.2;-0.25;-0.25;-0.2;-0.2;-0.2;-0.2	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78904	0.4357	L	0.56199	1.76	0.53688	D	0.999972	P;D;D;D	0.76494	0.84;0.999;0.999;0.997	P;D;D;D	0.80764	0.773;0.994;0.994;0.921	T	0.76222	-0.3038	10	0.41790	T	0.15	-23.4574	17.8994	0.88899	0.0:0.0:1.0:0.0	.	169;183;183;174	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	D	174;174;174;174;174;174;183;183	ENSP00000342749:E174D;ENSP00000409505:E174D;ENSP00000408933:E174D;ENSP00000367839:E174D;ENSP00000376884:E174D;ENSP00000407222:E174D;ENSP00000223215:E183D;ENSP00000401657:E183D	ENSP00000223215:E183D	E	+	3	2	MEST	129926965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.242000	0.43106	2.825000	0.97269	0.644000	0.83932	GAG		0.398	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	
TSGA13	114960	broad.mit.edu	37	7	130356607	130356607	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130356607G>A	ENST00000456951.1	-	8	1403	c.552C>T	c.(550-552)ttC>ttT	p.F184F	TSGA13_ENST00000356588.3_Silent_p.F184F			Q96PP4	TSG13_HUMAN	testis specific, 13	184								p.F184F(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CTTCGCTCTTGAAATCATTGT	0.388																																					p.F184F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	7						.						137.0	134.0	135.0					7																	130356607		2203	4300	6503	130007147	SO:0001819	synonymous_variant	114960	exon7			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.552C>T	7.37:g.130356607G>A			130007147	NM_052933	B3KSC9	Silent	SNP	ENST00000456951.1	37	CCDS5824.1																																																																																				0.388	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	
TSGA13	114960	broad.mit.edu	37	7	130357634	130357634	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130357634T>G	ENST00000456951.1	-	7	1321	c.470A>C	c.(469-471)aAa>aCa	p.K157T	TSGA13_ENST00000356588.3_Missense_Mutation_p.K157T			Q96PP4	TSG13_HUMAN	testis specific, 13	157								p.K157T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GAAGATTGGTTTCAGCTTAGA	0.443																																					p.K157T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A470C	7						.						207.0	193.0	198.0					7																	130357634		2203	4300	6503	130008174	SO:0001583	missense	114960	exon6			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.470A>C	7.37:g.130357634T>G	ENSP00000406047:p.Lys157Thr		130008174	NM_052933	B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887585	0.33348	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.31	4.16	0.48862	.	0.000000	0.53938	D	0.000058	T	0.41696	0.1170	L	0.34521	1.04	0.09310	N	1	P	0.44946	0.846	P	0.52267	0.694	T	0.21143	-1.0254	9	0.56958	D	0.05	-20.373	8.3009	0.32014	0.0:0.0911:0.0:0.9089	.	157	Q96PP4	TSG13_HUMAN	T	157	.	ENSP00000348996:K157T	K	-	2	0	TSGA13	130008174	0.935000	0.31712	0.309000	0.25155	0.050000	0.14768	0.837000	0.27558	0.946000	0.37632	-0.274000	0.10170	AAA		0.443	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	
MKLN1	4289	broad.mit.edu	37	7	131084165	131084165	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:131084165G>A	ENST00000352689.6	+	6	716	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	MKLN1_ENST00000421797.2_Missense_Mutation_p.E134K	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	226	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.E226K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGATGCTTGCGAAGAGTTGAT	0.353																																					p.E226K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G676A	7						.						182.0	179.0	180.0					7																	131084165		2203	4300	6503	130734705	SO:0001583	missense	4289	exon6			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.676G>A	7.37:g.131084165G>A	ENSP00000323527:p.Glu226Lys		130734705	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203236	0.95033	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.58797	1.34;0.31	6.02	5.14	0.70334	CTLH, C-terminal LisH motif (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.76170	2.325	0.80722	D	1	D;P;D	0.67145	0.996;0.868;0.958	P;B;B	0.60886	0.88;0.328;0.263	T	0.76410	-0.2969	10	0.66056	D	0.02	-20.612	14.2351	0.65922	0.0707:0.0:0.9293:0.0	.	226;203;134	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	K	134;226	ENSP00000398094:E134K;ENSP00000323527:E226K	ENSP00000323527:E226K	E	+	1	0	MKLN1	130734705	1.000000	0.71417	0.858000	0.33744	0.950000	0.60333	9.785000	0.99042	1.560000	0.49568	0.650000	0.86243	GAA		0.353	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	
MKLN1	4289	broad.mit.edu	37	7	131148084	131148084	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:131148084G>T	ENST00000352689.6	+	13	1674	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.R453I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	545					signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.R545I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GAAAATGTTAGAAATTCATTC	0.358																																					p.R545I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1634T	7						.						105.0	109.0	108.0					7																	131148084		2203	4299	6502	130798624	SO:0001583	missense	4289	exon13			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1634G>T	7.37:g.131148084G>T	ENSP00000323527:p.Arg545Ile		130798624	NM_013255	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620864	0.87460	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.73152	-0.72;-0.72	5.93	5.93	0.95920	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	L	0.33485	1.01	0.80722	D	1	B;D;P;D	0.61697	0.044;0.981;0.944;0.99	B;P;P;P	0.60886	0.017;0.491;0.497;0.88	T	0.68217	-0.5467	10	0.19590	T	0.45	-20.2923	19.3216	0.94243	0.0:0.0:1.0:0.0	.	545;522;453;35	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	I	453;545;35	ENSP00000398094:R453I;ENSP00000323527:R545I	ENSP00000323527:R545I	R	+	2	0	MKLN1	130798624	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.444000	0.97578	2.818000	0.97014	0.591000	0.81541	AGA		0.358	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	
PLXNA4	91584	broad.mit.edu	37	7	131831322	131831322	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:131831322G>A	ENST00000359827.3	-	28	5964	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1668W			Q9HCM2	PLXA4_HUMAN	plexin A4	1668					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1668W(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGCTCCCCCGGTCCCCCTCC	0.572																																					p.R1668W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5002T	7						.						202.0	216.0	211.0					7																	131831322		2182	4298	6480	131481862	SO:0001583	missense	91584	exon28			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5002C>T	7.37:g.131831322G>A	ENSP00000352882:p.Arg1668Trp		131481862	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581281	0.86748	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15952	2.38;2.38	5.8	4.89	0.63831	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.057652	0.64402	D	0.000001	T	0.49115	0.1538	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60031	-0.7342	10	0.87932	D	0	.	13.6924	0.62553	0.0:0.0:0.7194:0.2806	.	1668	Q9HCM2	PLXA4_HUMAN	W	1668	ENSP00000323194:R1668W;ENSP00000352882:R1668W	ENSP00000323194:R1668W	R	-	1	2	PLXNA4	131481862	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.520000	0.60524	1.405000	0.46838	0.561000	0.74099	CGG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	131844364	131844364	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:131844364C>A	ENST00000359827.3	-	25	5490	c.4528G>T	c.(4528-4530)Gcc>Tcc	p.A1510S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1510S			Q9HCM2	PLXA4_HUMAN	plexin A4	1510					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1510S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCTGTTGGCATTGTCTGGG	0.527																																					p.A1510S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4528T	7						.						217.0	222.0	220.0					7																	131844364		2189	4300	6489	131494904	SO:0001583	missense	91584	exon25			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4528G>T	7.37:g.131844364C>A	ENSP00000352882:p.Ala1510Ser		131494904	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160329	0.38119	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.10860	2.83;2.83	5.21	4.33	0.51752	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.264822	0.39909	N	0.001235	T	0.04907	0.0132	N	0.04297	-0.235	0.26339	N	0.977395	B	0.10296	0.003	B	0.08055	0.003	T	0.38866	-0.9641	10	0.12766	T	0.61	.	11.8895	0.52620	0.0:0.8541:0.0:0.1459	.	1510	Q9HCM2	PLXA4_HUMAN	S	1510	ENSP00000323194:A1510S;ENSP00000352882:A1510S	ENSP00000323194:A1510S	A	-	1	0	PLXNA4	131494904	0.998000	0.40836	0.900000	0.35374	0.993000	0.82548	3.793000	0.55484	1.185000	0.42971	0.650000	0.86243	GCC		0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	131865380	131865380	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:131865380C>T	ENST00000359827.3	-	19	4566	c.3604G>A	c.(3604-3606)Gag>Aag	p.E1202K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1202K			Q9HCM2	PLXA4_HUMAN	plexin A4	1202	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1202K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGGGGGACTCGCAGAGCAGC	0.617																																					p.E1202K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3604A	7						.						60.0	65.0	63.0					7																	131865380		2125	4249	6374	131515920	SO:0001583	missense	91584	exon19			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3604G>A	7.37:g.131865380C>T	ENSP00000352882:p.Glu1202Lys		131515920	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755039	0.89843	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76578	-1.03;-1.03	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.85654	0.1284	10	0.25751	T	0.34	.	19.1282	0.93394	0.0:1.0:0.0:0.0	.	1202	Q9HCM2	PLXA4_HUMAN	K	1202	ENSP00000323194:E1202K;ENSP00000352882:E1202K	ENSP00000323194:E1202K	E	-	1	0	PLXNA4	131515920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.551000	0.86045	0.561000	0.74099	GAG		0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132174090	132174090	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:132174090A>C	ENST00000359827.3	-	3	2294	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	PLXNA4_ENST00000423507.2_Silent_p.S444S|PLXNA4_ENST00000378539.5_Silent_p.S444S|PLXNA4_ENST00000321063.4_Silent_p.S444S			Q9HCM2	PLXA4_HUMAN	plexin A4	444	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.S444S(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAAAGGCCAGAGAGTGGTTCT	0.542																																					p.S444S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1332G	7						.						125.0	102.0	109.0					7																	132174090		2203	4300	6503	131824630	SO:0001819	synonymous_variant	91584	exon4			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1332T>G	7.37:g.132174090A>C			131824630	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132192420	132192420	+	Missense_Mutation	SNP	G	G	A	rs115629766	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:132192420G>A	ENST00000359827.3	-	2	1995	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PLXNA4_ENST00000423507.2_Missense_Mutation_p.R345W|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R345W|PLXNA4_ENST00000321063.4_Missense_Mutation_p.R345W			Q9HCM2	PLXA4_HUMAN	plexin A4	345	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R345W(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCATTTTCCGCTTCTGGCCC	0.562													G|||	12	0.00239617	0.0083	0.0	5008	,	,		21559	0.0		0.001	False		,,,				2504	0.0				p.R345W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1033T	7						.	G	TRP/ARG,TRP/ARG,TRP/ARG	17,4389	23.3+/-48.9	0,17,2186	73.0	70.0	71.0		1033,1033,1033	3.0	1.0	7	dbSNP_133	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	101,101,101	0,18,6485	AA,AG,GG		0.0116,0.3858,0.1384	probably-damaging,probably-damaging,probably-damaging	345/493,345/1895,345/523	132192420	18,12988	2203	4300	6503	131842960	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1033C>T	7.37:g.132192420G>A	ENSP00000352882:p.Arg345Trp		131842960	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	G	16.77	3.214054	0.58452	0.003858	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.96	3.03	0.35002	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.11153	0.0272	L	0.51422	1.61	0.54753	D	0.999989	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.972;0.983;0.948	T	0.00591	-1.1655	10	0.59425	D	0.04	.	15.5096	0.75769	0.0:0.0:0.4027:0.5973	.	345;345;345	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	W	345	ENSP00000323194:R345W;ENSP00000352882:R345W;ENSP00000392772:R345W;ENSP00000367800:R345W	ENSP00000323194:R345W	R	-	1	2	PLXNA4	131842960	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.235000	0.32671	0.804000	0.34136	0.655000	0.94253	CGG		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132193345	132193345	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:132193345C>T	ENST00000359827.3	-	2	1070	c.108G>A	c.(106-108)aaG>aaA	p.K36K	PLXNA4_ENST00000423507.2_Silent_p.K36K|PLXNA4_ENST00000378539.5_Silent_p.K36K|PLXNA4_ENST00000321063.4_Silent_p.K36K			Q9HCM2	PLXA4_HUMAN	plexin A4	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K36K(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGACCGCTGCTTCTGGGACA	0.607																																					p.K36K												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G108A	7						.						33.0	32.0	32.0					7																	132193345		2203	4300	6503	131843885	SO:0001819	synonymous_variant	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.108G>A	7.37:g.132193345C>T			131843885	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
EXOC4	60412	broad.mit.edu	37	7	133041122	133041122	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:133041122G>T	ENST00000253861.4	+	6	831	c.802G>T	c.(802-804)Gaa>Taa	p.E268*	EXOC4_ENST00000539845.1_Nonsense_Mutation_p.E167*|EXOC4_ENST00000393161.2_Nonsense_Mutation_p.E268*	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	268					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.E268*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAAGATTTAGAATTGGATCC	0.388																																					p.E268X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G802T	7						.						66.0	68.0	67.0					7																	133041122		2203	4300	6503	132691662	SO:0001587	stop_gained	60412	exon6			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.802G>T	7.37:g.133041122G>T	ENSP00000253861:p.Glu268*		132691662	NM_001037126	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Nonsense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	42	9.474326	0.99181	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.51	4.6	0.57074	.	0.591478	0.17700	N	0.164958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.422	0.83766	0.0:0.1317:0.8683:0.0	.	.	.	.	X	268;268;167	.	ENSP00000253861:E268X	E	+	1	0	EXOC4	132691662	1.000000	0.71417	0.897000	0.35233	0.974000	0.67602	7.210000	0.77924	1.400000	0.46741	0.650000	0.86243	GAA		0.388	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
EXOC4	60412	broad.mit.edu	37	7	133682251	133682251	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:133682251C>A	ENST00000253861.4	+	15	2242	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	EXOC4_ENST00000545148.1_Missense_Mutation_p.S348Y|EXOC4_ENST00000539845.1_Missense_Mutation_p.S637Y|EXOC4_ENST00000541309.1_Missense_Mutation_p.S26Y	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	738					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.S738Y(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCAGTGCTTTCTCCTGCTCAA	0.418																																					p.S738Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2213A	7						.						112.0	94.0	100.0					7																	133682251		2203	4300	6503	133332791	SO:0001583	missense	60412	exon15			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2213C>A	7.37:g.133682251C>A	ENSP00000253861:p.Ser738Tyr		133332791	NM_021807	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751246	0.49257	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.43	5.43	0.79202	.	0.055443	0.85682	D	0.000000	T	0.56396	0.1982	L	0.47716	1.5	0.47374	D	0.999402	P;B;P	0.45283	0.846;0.061;0.855	B;B;B	0.41813	0.367;0.047;0.135	T	0.61407	-0.7069	9	0.59425	D	0.04	.	18.8686	0.92303	0.0:1.0:0.0:0.0	.	270;348;738	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	Y	738;357;637;348;26	.	ENSP00000253861:S738Y	S	+	2	0	EXOC4	133332791	0.996000	0.38824	0.998000	0.56505	0.699000	0.40488	2.694000	0.47035	2.549000	0.85964	0.655000	0.94253	TCT		0.418	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807	
LRGUK	136332	broad.mit.edu	37	7	133842872	133842872	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:133842872T>G	ENST00000285928.2	+	6	824	c.755T>G	c.(754-756)aTt>aGt	p.I252S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	252						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.I252S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATCACGACAATTAATGGCTTA	0.343																																					p.I252S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T755G	7						.						135.0	119.0	124.0					7																	133842872		2203	4300	6503	133493412	SO:0001583	missense	136332	exon6			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.755T>G	7.37:g.133842872T>G	ENSP00000285928:p.Ile252Ser		133493412	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397425	0.62177	.	.	ENSG00000155530	ENST00000285928	T	0.32023	1.47	5.47	5.47	0.80525	.	0.061993	0.64402	D	0.000007	T	0.58090	0.2098	M	0.91090	3.175	0.19945	N	0.999945	D	0.56287	0.975	P	0.56163	0.793	T	0.62296	-0.6884	10	0.87932	D	0	-13.5898	14.535	0.67953	0.0:0.0:0.0:1.0	.	252	Q96M69	LRGUK_HUMAN	S	252	ENSP00000285928:I252S	ENSP00000285928:I252S	I	+	2	0	LRGUK	133493412	0.933000	0.31639	0.005000	0.12908	0.002000	0.02628	3.840000	0.55843	2.079000	0.62486	0.455000	0.32223	ATT		0.343	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
AKR1B1	231	broad.mit.edu	37	7	134132059	134132059	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:134132059C>A	ENST00000285930.4	-	8	895	c.816G>T	c.(814-816)gaG>gaT	p.E272D	AKR1B1_ENST00000489022.1_5'Flank	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	272				IAE -> EAA (in Ref. 16; AA sequence). {ECO:0000305}.	C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.E272D(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	CCTTAAAGTTCTCAGCAATGC	0.572																																					p.E272D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G816T	7						.						159.0	114.0	129.0					7																	134132059		2203	4300	6503	133782599	SO:0001583	missense	231	exon8			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.816G>T	7.37:g.134132059C>A	ENSP00000285930:p.Glu272Asp		133782599	NM_001628	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647699	0.47258	.	.	ENSG00000085662	ENST00000285930	T	0.25912	1.77	5.12	4.24	0.50183	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.090641	0.85682	D	0.000000	T	0.26304	0.0642	L	0.52905	1.665	0.50171	D	0.999857	B	0.19200	0.034	B	0.21917	0.037	T	0.06972	-1.0797	10	0.66056	D	0.02	.	11.2447	0.48990	0.0:0.915:0.0:0.085	.	272	P15121	ALDR_HUMAN	D	272	ENSP00000285930:E272D	ENSP00000285930:E272D	E	-	3	2	AKR1B1	133782599	0.998000	0.40836	1.000000	0.80357	0.922000	0.55478	0.694000	0.25512	1.289000	0.44618	0.561000	0.74099	GAG		0.572	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
CALD1	800	broad.mit.edu	37	7	134618822	134618822	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:134618822G>A	ENST00000361675.2	+	5	1531	c.1302G>A	c.(1300-1302)aaG>aaA	p.K434K	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	434					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.K434K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CTGTCCTAAAGAAACAGGTAC	0.383																																					p.K434K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1302A	7						.						110.0	115.0	113.0					7																	134618822		2203	4300	6503	134269362	SO:0001819	synonymous_variant	800	exon5			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1302G>A	7.37:g.134618822G>A			134269362	NM_033138	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																				0.383	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
CALD1	800	broad.mit.edu	37	7	134632379	134632379	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:134632379C>T	ENST00000361675.2	+	8	1882	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	CALD1_ENST00000393118.2_Silent_p.F316F|CALD1_ENST00000361901.2_Silent_p.F296F|CALD1_ENST00000417172.1_Silent_p.F296F|CALD1_ENST00000543443.1_Silent_p.F301F|CALD1_ENST00000495522.1_Silent_p.F316F|CALD1_ENST00000361388.2_Silent_p.F322F|CALD1_ENST00000422748.1_Silent_p.F322F|CALD1_ENST00000424922.1_Silent_p.F290F			Q05682	CALD1_HUMAN	caldesmon 1	551					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.F551F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCGAAGAGTTCGAGAAGCTCA	0.607																																					p.F322F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	7						.						29.0	29.0	29.0					7																	134632379		2186	4279	6465	134282919	SO:0001819	synonymous_variant	800	exon8			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1653C>T	7.37:g.134632379C>T			134282919	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	CCDS5835.1																																																																																				0.607	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
WDR91	29062	broad.mit.edu	37	7	134889139	134889139	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:134889139G>A	ENST00000354475.4	-	6	803	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	AC009542.2_ENST00000595902.1_RNA|WDR91_ENST00000344400.5_Missense_Mutation_p.R258C|WDR91_ENST00000423565.1_Missense_Mutation_p.R223C|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	258								p.R258C(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAGCCCACACGAGGTGACTGG	0.582																																					p.R258C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C772T	7						.						72.0	57.0	62.0					7																	134889139		2203	4300	6503	134539679	SO:0001583	missense	29062	exon6			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.772C>T	7.37:g.134889139G>A	ENSP00000346466:p.Arg258Cys		134539679	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730242	0.69074	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.66460	1.36;-0.21;0.37	5.4	4.43	0.53597	.	0.358038	0.29192	N	0.012878	T	0.59676	0.2211	L	0.27053	0.805	0.09310	N	0.999995	D	0.63880	0.993	P	0.46885	0.53	T	0.59490	-0.7445	10	0.72032	D	0.01	-1.775	15.2136	0.73247	0.0:0.0:0.8504:0.1496	.	258	A4D1P6	WDR91_HUMAN	C	258;258;223	ENSP00000340877:R258C;ENSP00000346466:R258C;ENSP00000392555:R223C	ENSP00000340877:R258C	R	-	1	0	WDR91	134539679	0.962000	0.33011	0.421000	0.26609	0.949000	0.60115	3.733000	0.55029	2.548000	0.85928	0.655000	0.94253	CGT		0.582	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
NUP205	23165	broad.mit.edu	37	7	135255879	135255879	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:135255879G>T	ENST00000285968.6	+	2	81	c.55G>T	c.(55-57)Gac>Tac	p.D19Y	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	19					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.D19Y(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCCTTACAAAGACATTTGGCA	0.373																																					p.D19Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55T	7						.						81.0	84.0	83.0					7																	135255879		2203	4300	6503	134906419	SO:0001583	missense	23165	exon2			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.55G>T	7.37:g.135255879G>T	ENSP00000285968:p.Asp19Tyr		134906419	NM_015135	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485159	0.84854	.	.	ENSG00000155561	ENST00000285968	T	0.33654	1.4	5.21	5.21	0.72293	.	0.049889	0.85682	D	0.000000	T	0.51669	0.1688	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.54563	-0.8275	10	0.87932	D	0	-9.6087	18.7467	0.91795	0.0:0.0:1.0:0.0	.	19	Q92621	NU205_HUMAN	Y	19	ENSP00000285968:D19Y	ENSP00000285968:D19Y	D	+	1	0	NUP205	134906419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.490000	0.97952	2.446000	0.82766	0.591000	0.81541	GAC		0.373	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1		
SLC13A4	26266	broad.mit.edu	37	7	135390916	135390916	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:135390916G>A	ENST00000354042.4	-	4	1187	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	166					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L166L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGCCCGCCACGAGCTGCTCGT	0.612																																					p.L166L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	7						.						106.0	90.0	95.0					7																	135390916		2203	4300	6503	135041456	SO:0001819	synonymous_variant	26266	exon4			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.498C>T	7.37:g.135390916G>A			135041456	NM_012450	A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	CCDS5840.1																																																																																				0.612	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450	
CHRM2	1129	broad.mit.edu	37	7	136699817	136699817	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:136699817G>T	ENST00000445907.2	+	3	733	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	CHRM2_ENST00000402486.3_Missense_Mutation_p.D69Y|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.D69Y|CHRM2_ENST00000320658.5_Missense_Mutation_p.D69Y|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D69Y|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D69Y	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	69					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.D69Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGCCTGTGCTGACCTTATCAT	0.473																																					p.D69Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205T	7						.						225.0	192.0	203.0					7																	136699817		2203	4300	6503	136350357	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.205G>T	7.37:g.136699817G>T	ENSP00000399745:p.Asp69Tyr		136350357	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783528	0.70222	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97294	0.9115	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99019	1.0817	10	0.87932	D	0	-5.2158	19.2407	0.93881	0.0:0.0:1.0:0.0	.	69	P08172	ACM2_HUMAN	Y	69	ENSP00000399745:D69Y;ENSP00000415386:D69Y;ENSP00000319984:D69Y;ENSP00000380733:D69Y;ENSP00000384937:D69Y;ENSP00000384401:D69Y	ENSP00000319984:D69Y	D	+	1	0	CHRM2	136350357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.766000	0.98957	2.546000	0.85860	0.644000	0.83932	GAC		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
CHRM2	1129	broad.mit.edu	37	7	136700369	136700369	+	Missense_Mutation	SNP	G	G	A	rs140681489		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:136700369G>A	ENST00000445907.2	+	3	1285	c.757G>A	c.(757-759)Gat>Aat	p.D253N	CHRM2_ENST00000402486.3_Missense_Mutation_p.D253N|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.D253N|CHRM2_ENST00000320658.5_Missense_Mutation_p.D253N|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.D253N|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.D253N	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	253					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.D253N(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGCAGTGACGATGGCCTGGA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19435	0.0		0.0	False		,,,				2504	0.0				p.D253N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G757A	7						.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4403	8.1+/-20.4	0,3,2200	57.0	59.0	59.0		757,757,757,757,757,757,757,757	4.5	0.4	7	dbSNP_134	59	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	23,23,23,23,23,23,23,23	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	253/467,253/467,253/467,253/467,253/467,253/467,253/467,253/467	136700369	3,13003	2203	4300	6503	136350909	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.757G>A	7.37:g.136700369G>A	ENSP00000399745:p.Asp253Asn		136350909	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015654	0.07681	6.81E-4	0.0	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.4	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.411149	0.25795	N	0.028256	T	0.42471	0.1204	N	0.25485	0.75	0.38338	D	0.94398	B	0.26483	0.15	B	0.22753	0.041	T	0.34700	-0.9818	10	0.16896	T	0.51	-0.2836	13.8766	0.63655	0.0731:0.0:0.9269:0.0	.	253	P08172	ACM2_HUMAN	N	253	ENSP00000399745:D253N;ENSP00000415386:D253N;ENSP00000319984:D253N;ENSP00000380733:D253N;ENSP00000384937:D253N;ENSP00000384401:D253N	ENSP00000319984:D253N	D	+	1	0	CHRM2	136350909	0.225000	0.23685	0.438000	0.26821	0.326000	0.28443	2.051000	0.41307	1.290000	0.44636	0.655000	0.94253	GAT		0.512	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
PTN	5764	broad.mit.edu	37	7	136912820	136912820	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:136912820C>T	ENST00000348225.2	-	5	881	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	PTN_ENST00000393083.2_3'UTR	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	152					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.E152K(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTCTTAGATTCTGCTGTGATT	0.358																																					p.E152K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G454A	7						.						179.0	157.0	164.0					7																	136912820		2202	4299	6501	136563360	SO:0001583	missense	5764	exon5			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.454G>A	7.37:g.136912820C>T	ENSP00000341170:p.Glu152Lys		136563360	NM_002825	Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315472	0.23908	.	.	ENSG00000105894	ENST00000348225	.	.	.	5.79	5.79	0.91817	Midkine heparin-binding growth factor, C-terminal (1);	0.109566	0.64402	D	0.000009	T	0.60051	0.2239	N	0.14661	0.345	0.80722	D	1	P	0.51057	0.941	D	0.71414	0.973	T	0.55023	-0.8205	9	0.18276	T	0.48	-11.1496	17.1805	0.86853	0.0:1.0:0.0:0.0	.	152	P21246	PTN_HUMAN	K	152	.	ENSP00000341170:E152K	E	-	1	0	PTN	136563360	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.390000	0.59646	2.750000	0.94351	0.561000	0.74099	GAA		0.358	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825	
DGKI	9162	broad.mit.edu	37	7	137237203	137237203	+	Missense_Mutation	SNP	C	C	T	rs370315489		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:137237203C>T	ENST00000288490.5	-	20	2059	c.2059G>A	c.(2059-2061)Gcc>Acc	p.A687T	DGKI_ENST00000424189.2_Missense_Mutation_p.A687T|DGKI_ENST00000446122.1_Missense_Mutation_p.A687T|DGKI_ENST00000453654.2_Missense_Mutation_p.A387T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	687					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A687T(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATAGCTGGGGCCAACCTACAG	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18872	0.0		0.0	False		,,,				2504	0.0				p.A687T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2059A	7						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	150.0	133.0	139.0		2059	5.4	1.0	7		139	0,8600		0,0,4300	no	missense	DGKI	NM_004717.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	687/1066	137237203	1,13005	2203	4300	6503	136887743	SO:0001583	missense	9162	exon20			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2059G>A	7.37:g.137237203C>T	ENSP00000288490:p.Ala687Thr		136887743	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026601	0.93518	2.27E-4	0.0	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.39406	1.08;1.08;1.08	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.65498	2.005	0.80722	D	1	P;P	0.42010	0.564;0.768	B;B	0.39379	0.11;0.298	T	0.44544	-0.9321	10	0.36615	T	0.2	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	387;687	E9PFX6;O75912	.;DGKI_HUMAN	T	387;635;687;687;687	ENSP00000392161:A387T;ENSP00000288490:A687T;ENSP00000399131:A687T	ENSP00000288490:A687T	A	-	1	0	DGKI	136887743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.715000	0.92844	0.655000	0.94253	GCC		0.517	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
CREB3L2	64764	broad.mit.edu	37	7	137588741	137588741	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:137588741C>A	ENST00000330387.6	-	7	1289	c.938G>T	c.(937-939)aGa>aTa	p.R313I	CREB3L2_ENST00000456390.1_Missense_Mutation_p.R313I	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	313	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.R313I(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TTTCTTCTTTCTCCTACTTTC	0.468			T	FUS	fibromyxoid sarcoma						OREG0018352	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R313I			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G938T	7						.						113.0	107.0	109.0					7																	137588741		2203	4300	6503	137239281	SO:0001583	missense	64764	exon7			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.938G>T	7.37:g.137588741C>A	ENSP00000329140:p.Arg313Ile	1634	137239281	NM_194071	Q6P454|Q6ZMR6	Missense_Mutation	SNP	ENST00000330387.6	37	CCDS34760.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393673	0.96009	.	.	ENSG00000182158	ENST00000330387;ENST00000456390	T;T	0.77098	-1.07;-1.07	5.32	5.32	0.75619	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.991;0.998	D	0.93276	0.6656	10	0.87932	D	0	0.1841	17.9295	0.88992	0.0:1.0:0.0:0.0	.	313;313	Q70SY1-2;Q70SY1	.;CR3L2_HUMAN	I	313	ENSP00000329140:R313I;ENSP00000403550:R313I	ENSP00000329140:R313I	R	-	2	0	CREB3L2	137239281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.076000	0.76806	2.625000	0.88918	0.655000	0.94253	AGA		0.468	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341462.1	NM_194071	
TRIM24	8805	broad.mit.edu	37	7	138262238	138262238	+	Nonsense_Mutation	SNP	C	C	T	rs201997143		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138262238C>T	ENST00000343526.4	+	14	2376	c.2161C>T	c.(2161-2163)Cga>Tga	p.R721*	TRIM24_ENST00000415680.2_Nonsense_Mutation_p.R687*			O15164	TIF1A_HUMAN	tripartite motif containing 24	721					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R721*(2)|p.R687*(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAGCCAATTCGAATAAAACA	0.423																																					p.R687X	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C2059T	7						.						87.0	85.0	86.0					7																	138262238		2203	4300	6503	137912778	SO:0001587	stop_gained	8805	exon14			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2161C>T	7.37:g.138262238C>T	ENSP00000340507:p.Arg721*		137912778	NM_003852	A4D1R7|A4D1R8|O95854	Nonsense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	39	7.705403	0.98444	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	.	.	.	5.67	4.71	0.59529	.	0.102507	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.1556	13.2383	0.59982	0.2643:0.7357:0.0:0.0	.	.	.	.	X	721;632;687	.	ENSP00000340507:R721X	R	+	1	2	TRIM24	137912778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.972000	0.49256	2.661000	0.90470	0.460000	0.39030	CGA		0.423	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
ATP6V0A4	50617	broad.mit.edu	37	7	138447176	138447176	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138447176C>T	ENST00000310018.2	-	7	703	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E141K|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E141K	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	141					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.E141K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAATTGGTTTCCGTCTGAAAG	0.393																																					p.E141K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	7						.						98.0	91.0	93.0					7																	138447176		2203	4300	6503	138097716	SO:0001583	missense	50617	exon6			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.421G>A	7.37:g.138447176C>T	ENSP00000308122:p.Glu141Lys		138097716	NM_130840	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447856	0.63178	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85861	-2.04;-2.04;-2.04	6.17	6.17	0.99709	.	0.341865	0.27491	N	0.019127	D	0.83746	0.5321	L	0.59436	1.845	0.54753	D	0.999981	B	0.16802	0.019	B	0.19666	0.026	T	0.77253	-0.2656	10	0.16420	T	0.52	-19.0985	19.8676	0.96824	0.0:1.0:0.0:0.0	.	141	Q9HBG4	VPP4_HUMAN	K	141	ENSP00000308122:E141K;ENSP00000376774:E141K;ENSP00000253856:E141K	ENSP00000308122:E141K	E	-	1	0	ATP6V0A4	138097716	0.998000	0.40836	0.997000	0.53966	0.968000	0.65278	4.875000	0.63072	2.941000	0.99782	0.655000	0.94253	GAA		0.393	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
ATP6V0A4	50617	broad.mit.edu	37	7	138455976	138455976	+	Missense_Mutation	SNP	C	C	T	rs147512254		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138455976C>T	ENST00000310018.2	-	3	299	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R6Q|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R6Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	6					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.R6Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCCTCGCTTCGAAACACAGA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16732	0.0		0.0	False		,,,				2504	0.0				p.R6Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17A	7						.	C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	147.0	144.0	145.0		17,17,17	4.8	1.0	7	dbSNP_134	145	0,8600		0,0,4300	yes	missense,missense,missense	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	6/841,6/841,6/841	138455976	2,13004	2203	4300	6503	138106516	SO:0001583	missense	50617	exon2			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.17G>A	7.37:g.138455976C>T	ENSP00000308122:p.Arg6Gln		138106516	NM_130840	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	33	5.243612	0.95272	4.54E-4	0.0	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91351	-2.83;-2.83;-2.83	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000017	D	0.97353	0.9134	H	0.98507	4.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.99010	1.0814	10	0.87932	D	0	-15.7712	16.9469	0.86232	0.0:1.0:0.0:0.0	.	6	Q9HBG4	VPP4_HUMAN	Q	6	ENSP00000308122:R6Q;ENSP00000376774:R6Q;ENSP00000253856:R6Q	ENSP00000308122:R6Q	R	-	2	0	ATP6V0A4	138106516	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	7.446000	0.80609	2.454000	0.82982	0.557000	0.71058	CGA		0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
KIAA1549	57670	broad.mit.edu	37	7	138566238	138566238	+	Silent	SNP	C	C	T	rs377023001		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138566238C>T	ENST00000422774.1	-	11	4173	c.4125G>A	c.(4123-4125)gcG>gcA	p.A1375A	KIAA1549_ENST00000440172.1_Silent_p.A1375A|KIAA1549_ENST00000242365.4_Silent_p.A1325A			Q9HCM3	K1549_HUMAN	KIAA1549	1375						integral component of membrane (GO:0016021)		p.A1375A(1)|p.A1325A(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGCAGTGGCGCTGGCTCAT	0.507			O	BRAF	pilocytic astrocytoma																																p.A1375A	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4125A	7						.	C	,	1,4167		0,1,2083	116.0	121.0	119.0		4125,4125	-11.5	0.0	7		119	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous	KIAA1549	NM_001164665.1,NM_020910.2	,	0,1,6300	TT,TC,CC		0.0,0.024,0.0079	,	1375/1951,1375/1935	138566238	1,12601	2084	4217	6301	138216778	SO:0001819	synonymous_variant	57670	exon11				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4125G>A	7.37:g.138566238C>T			138216778	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KIAA1549	57670	broad.mit.edu	37	7	138566325	138566325	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138566325C>A	ENST00000422774.1	-	11	4086	c.4038G>T	c.(4036-4038)caG>caT	p.Q1346H	KIAA1549_ENST00000440172.1_Missense_Mutation_p.Q1346H|KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q1296H			Q9HCM3	K1549_HUMAN	KIAA1549	1346						integral component of membrane (GO:0016021)		p.Q1296H(1)|p.Q1346H(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACTAGGGATCTGCAGCTGAA	0.478			O	BRAF	pilocytic astrocytoma																																p.Q1346H	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4038T	7						.						53.0	55.0	54.0					7																	138566325		2056	4206	6262	138216865	SO:0001583	missense	57670	exon11				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4038G>T	7.37:g.138566325C>A	ENSP00000416040:p.Gln1346His		138216865	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332628	0.81801	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.28895	1.59;1.59;1.61	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.53906	-0.8372	10	0.87932	D	0	.	12.8586	0.57901	0.0:0.9217:0.0:0.0783	.	1346;130;1346;130	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	H	1346;1296;1346	ENSP00000406661:Q1346H;ENSP00000242365:Q1296H;ENSP00000416040:Q1346H	ENSP00000242365:Q1296H	Q	-	3	2	KIAA1549	138216865	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.577000	0.60922	2.716000	0.92895	0.655000	0.94253	CAG		0.478	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KIAA1549	57670	broad.mit.edu	37	7	138603353	138603353	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138603353C>A	ENST00000422774.1	-	2	1067	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R340I|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R290I			Q9HCM3	K1549_HUMAN	KIAA1549	340						integral component of membrane (GO:0016021)		p.R290I(1)|p.R340I(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGTATGTTCTTGGAGAGAT	0.507			O	BRAF	pilocytic astrocytoma																																p.R340I	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1019T	7						.						200.0	210.0	207.0					7																	138603353		2144	4253	6397	138253893	SO:0001583	missense	57670	exon2				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1019G>T	7.37:g.138603353C>A	ENSP00000416040:p.Arg340Ile		138253893	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778393	0.49786	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27256	1.68;1.69;1.68	4.42	1.48	0.22813	.	1.027140	0.07759	N	0.949804	T	0.21550	0.0519	N	0.24115	0.695	0.09310	N	1	P;P	0.47677	0.838;0.899	B;P	0.48141	0.364;0.568	T	0.18555	-1.0333	10	0.36615	T	0.2	.	5.5938	0.17315	0.0:0.6283:0.186:0.1857	.	340;340	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	I	340;290;340	ENSP00000406661:R340I;ENSP00000242365:R290I;ENSP00000416040:R340I	ENSP00000242365:R290I	R	-	2	0	KIAA1549	138253893	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.312000	0.19397	0.455000	0.26910	0.555000	0.69702	AGA		0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	G	A	rs369822469		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138603675G>A	ENST00000422774.1	-	2	745	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R233W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R183W			Q9HCM3	K1549_HUMAN	KIAA1549	233						integral component of membrane (GO:0016021)		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493			O	BRAF	pilocytic astrocytoma																																p.R233W	NSCLC(119;1534 1718 44213 46230 50068)		Dom	yes		7	7q34	57670	KIAA1549		O	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C697T	7						.	G	TRP/ARG,TRP/ARG	0,4210		0,0,2105	133.0	142.0	139.0		697,697	-2.7	0.0	7		139	1,8427		0,1,4213	no	missense,missense	KIAA1549	NM_020910.2,NM_001164665.1	101,101	0,1,6318	AA,AG,GG		0.0119,0.0,0.0079	benign,benign	233/1935,233/1951	138603675	1,12637	2105	4214	6319	138254215	SO:0001583	missense	57670	exon2				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.697C>T	7.37:g.138603675G>A	ENSP00000416040:p.Arg233Trp		138254215	NM_001164665	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142881	0.37825	0.0	1.19E-4	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.31510	1.49;1.49;1.49	4.68	-2.71	0.05986	.	2.073320	0.02184	N	0.060777	T	0.15219	0.0367	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.27123	-1.0083	10	0.56958	D	0.05	.	6.1846	0.20490	0.4504:0.2679:0.2817:0.0	.	233;233	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	W	233;183;233	ENSP00000406661:R233W;ENSP00000242365:R183W;ENSP00000416040:R233W	ENSP00000242365:R183W	R	-	1	2	KIAA1549	138254215	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.694000	0.05115	-0.670000	0.05282	0.561000	0.74099	CGG		0.493	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
ZC3HAV1	56829	broad.mit.edu	37	7	138732482	138732482	+	Missense_Mutation	SNP	G	G	A	rs542431197		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138732482G>A	ENST00000242351.5	-	13	2883	c.2567C>T	c.(2566-2568)aCg>aTg	p.T856M	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.T978M	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	856	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.T856M(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTCGTGTACGTTATATTTCC	0.433																																					p.T856M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2567T	7						.						145.0	144.0	144.0					7																	138732482		2203	4300	6503	138383022	SO:0001583	missense	56829	exon13			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2567C>T	7.37:g.138732482G>A	ENSP00000242351:p.Thr856Met		138383022	NM_020119	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636410	0.29068	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.14266	2.52;2.52	5.23	-10.5	0.00291	Poly(ADP-ribose) polymerase, catalytic domain (2);	1.464130	0.04338	N	0.353519	T	0.08313	0.0207	L	0.41824	1.3	0.09310	N	1	B	0.17465	0.022	B	0.06405	0.002	T	0.20405	-1.0276	10	0.44086	T	0.13	.	3.17	0.06549	0.4969:0.1605:0.2051:0.1375	.	856	Q7Z2W4	ZCCHV_HUMAN	M	856;978	ENSP00000242351:T856M;ENSP00000418385:T978M	ENSP00000242351:T856M	T	-	2	0	ZC3HAV1	138383022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.239000	0.00268	-2.456000	0.00539	-0.300000	0.09419	ACG		0.433	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
ZC3HAV1	56829	broad.mit.edu	37	7	138764331	138764331	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138764331G>A	ENST00000242351.5	-	4	1672	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	ZC3HAV1_ENST00000464606.1_Silent_p.S452S|ZC3HAV1_ENST00000471652.1_Silent_p.S452S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	452					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.S452S(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTCTGTGACCGCTGCTAGTGC	0.478																																					p.S452S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1356T	7						.						112.0	110.0	110.0					7																	138764331		2203	4300	6503	138414871	SO:0001819	synonymous_variant	56829	exon4			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1356C>T	7.37:g.138764331G>A			138414871	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	CCDS5851.1																																																																																				0.478	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
ZC3HAV1	56829	broad.mit.edu	37	7	138774441	138774441	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138774441C>T	ENST00000242351.5	-	2	689	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E125K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.E125K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	125	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.E125K(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCAGAGAGTTCGTGATTTTTC	0.403																																					p.E125K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	7						.						121.0	109.0	113.0					7																	138774441		2203	4300	6503	138424981	SO:0001583	missense	56829	exon2			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.373G>A	7.37:g.138774441C>T	ENSP00000242351:p.Glu125Lys		138424981	NM_024625	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101481	0.20632	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.44881	0.91;0.91;0.91	4.21	3.25	0.37280	.	0.790188	0.10801	N	0.632688	T	0.34135	0.0887	N	0.21448	0.665	0.09310	N	1	P;D	0.61080	0.669;0.989	B;P	0.47626	0.138;0.552	T	0.11179	-1.0598	10	0.59425	D	0.04	.	8.7002	0.34320	0.2266:0.7734:0.0:0.0	.	125;125	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	125	ENSP00000242351:E125K;ENSP00000418385:E125K;ENSP00000419855:E125K	ENSP00000242351:E125K	E	-	1	0	ZC3HAV1	138424981	0.159000	0.22864	0.120000	0.21714	0.160000	0.22226	0.748000	0.26305	2.337000	0.79520	0.650000	0.86243	GAA		0.403	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119	
TTC26	79989	broad.mit.edu	37	7	138819507	138819507	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138819507G>T	ENST00000464848.1	+	2	190	c.110G>T	c.(109-111)aGa>aTa	p.R37I	TTC26_ENST00000474035.2_Missense_Mutation_p.R37I|TTC26_ENST00000495038.1_Missense_Mutation_p.R37I|TTC26_ENST00000430935.1_Missense_Mutation_p.R37I|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.R37I|TTC26_ENST00000478836.2_Missense_Mutation_p.R37I			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	37					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.R37I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CTTTCAAAAAGAGATTTCACT	0.438																																					p.R37I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110T	7						.						82.0	75.0	78.0					7																	138819507		2203	4300	6503	138470047	SO:0001583	missense	79989	exon2			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.110G>T	7.37:g.138819507G>T	ENSP00000419279:p.Arg37Ile		138470047	NM_001144920	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Missense_Mutation	SNP	ENST00000464848.1	37	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166540	0.94768	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	T;T;T;T;T	0.57907	0.41;1.5;1.11;0.44;0.37	6.06	6.06	0.98353	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.99;0.994;0.999;0.995;0.99;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.962;0.975;0.994;0.979;0.962;1.0;0.999	T	0.83148	-0.0105	10	0.87932	D	0	.	19.3958	0.94607	0.0:0.0:1.0:0.0	.	37;37;37;37;37;37;37	B7Z2T3;F8W724;C9J2N7;B7Z6R6;A0AVF1;B7Z5M0;Q96CU4	.;.;.;.;TTC26_HUMAN;.;.	I	37	ENSP00000410655:R37I;ENSP00000418788:R37I;ENSP00000419178:R37I;ENSP00000419279:R37I;ENSP00000339135:R37I	ENSP00000339135:R37I	R	+	2	0	TTC26	138470047	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	7.139000	0.77314	2.879000	0.98667	0.650000	0.86243	AGA		0.438	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	
TTC26	79989	broad.mit.edu	37	7	138863338	138863338	+	Silent	SNP	C	C	T	rs138889631		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:138863338C>T	ENST00000464848.1	+	14	1316	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	TTC26_ENST00000495038.1_Silent_p.G281G|TTC26_ENST00000430935.1_Silent_p.G412G|TTC26_ENST00000343187.4_Silent_p.G381G|TTC26_ENST00000478836.2_Silent_p.G305G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	412					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.G412G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						CCAGTGAGGGCGAAGAGGTGG	0.378																																					p.G412G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1236T	7						.	C	,,	2,4404	4.2+/-10.8	0,2,2201	116.0	110.0	112.0		1236,1143,1236	-2.1	1.0	7	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	TTC26	NM_001144920.1,NM_001144923.1,NM_024926.2	,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,	412/488,381/524,412/555	138863338	4,13002	2203	4300	6503	138513878	SO:0001819	synonymous_variant	79989	exon14			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1236C>T	7.37:g.138863338C>T			138513878	NM_001144920	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	CCDS5852.1																																																																																				0.378	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	
ETV1	2115	broad.mit.edu	37	7	13971370	13971370	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:13971370G>A	ENST00000430479.1	-	9	1226	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ETV1_ENST00000405192.2_Missense_Mutation_p.R187C|ETV1_ENST00000420159.2_Missense_Mutation_p.R129C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.R201C|ETV1_ENST00000343495.5_Missense_Mutation_p.R169C|ETV1_ENST00000399357.3_Missense_Mutation_p.R84C|ETV1_ENST00000242066.5_Missense_Mutation_p.R169C|ETV1_ENST00000403527.1_Missense_Mutation_p.R147C|ETV1_ENST00000405218.2_Missense_Mutation_p.R187C|ETV1_ENST00000403685.1_Missense_Mutation_p.R169C	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	187					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R187C(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTGGCGGCGAAATCTAGGG	0.448			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.R187C			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	7						.						74.0	74.0	74.0					7																	13971370		1952	4136	6088	13937895	SO:0001583	missense	2115	exon8				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.559C>T	7.37:g.13971370G>A	ENSP00000405327:p.Arg187Cys		13937895	NM_001163147	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188457	0.94923	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.40302	N	0.001135	T	0.50326	0.1609	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.959;0.931;0.981;0.995;0.999;0.997;0.953;0.959	T	0.25433	-1.0132	10	0.51188	T	0.08	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	198;169;201;129;84;147;129;187	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	C	187;169;169;129;84;187;201;147;187;169;129;84	ENSP00000405327:R187C;ENSP00000242066:R169C;ENSP00000340853:R169C;ENSP00000411626:R129C;ENSP00000382293:R84C;ENSP00000385381:R187C;ENSP00000384085:R201C;ENSP00000384138:R147C;ENSP00000385551:R187C;ENSP00000385686:R169C;ENSP00000393078:R129C;ENSP00000394710:R84C	ENSP00000242066:R169C	R	-	1	0	ETV1	13937895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.266000	0.78452	2.932000	0.99384	0.644000	0.83932	CGC		0.448	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139106997	139106997	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:139106997C>T	ENST00000354926.4	+	10	1444	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.R430W|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R363W|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R361W	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough									p.R364W(1)									TGACAGAGATCGGAAAGATAA	0.453																																					p.R364W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1090T	7						.						124.0	126.0	125.0					7																	139106997		1932	4136	6068	138757537	SO:0001583	missense	51631	exon10				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.1090C>T	7.37:g.139106997C>T	ENSP00000347005:p.Arg364Trp		138757537	NM_016019		Missense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534109	0.45073	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.30714	3.28;1.52;3.28;3.28	6.03	2.87	0.33458	.	0.302789	0.33040	N	0.005360	T	0.20170	0.0485	L	0.57536	1.79	0.40138	D	0.976804	P;P;B;B	0.51537	0.946;0.946;0.3;0.199	B;B;B;B	0.31390	0.129;0.129;0.085;0.039	T	0.38329	-0.9666	9	0.56958	D	0.05	-0.0644	5.5622	0.17150	0.1357:0.5394:0.2365:0.0884	.	430;361;363;364	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	W	361;430;364;364;363	ENSP00000441604:R361W;ENSP00000440222:R430W;ENSP00000347005:R364W;ENSP00000263545:R363W	ENSP00000263545:R363W	R	+	1	2	LUC7L2	138757537	0.961000	0.32948	1.000000	0.80357	0.994000	0.84299	1.067000	0.30616	0.832000	0.34804	0.557000	0.71058	CGG		0.453	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2		
KDM7A	80853	broad.mit.edu	37	7	139790922	139790922	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:139790922C>A	ENST00000397560.2	-	20	2895	c.2798G>T	c.(2797-2799)aGa>aTa	p.R933I		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		933					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R933I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATGGCCATTTCTGTTCAACTT	0.468																																					p.R933I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2798T	7						.						169.0	165.0	166.0					7																	139790922		1927	4139	6066	139437391	SO:0001583	missense	80853	exon20																														ENST00000397560.2:c.2798G>T	7.37:g.139790922C>A	ENSP00000380692:p.Arg933Ile		139437391	NM_030647	A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074385	0.76415	.	.	ENSG00000006459	ENST00000397560	T	0.26223	1.75	5.81	5.81	0.92471	.	0.087536	0.45126	U	0.000386	T	0.53802	0.1819	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.53613	-0.8414	10	0.87932	D	0	-12.0452	20.0557	0.97650	0.0:1.0:0.0:0.0	.	933	Q6ZMT4	KDM7_HUMAN	I	933	ENSP00000380692:R933I	ENSP00000380692:R933I	R	-	2	0	JHDM1D	139437391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.306000	0.72810	2.741000	0.93983	0.591000	0.81541	AGA		0.468	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1		
SLC37A3	84255	broad.mit.edu	37	7	140043303	140043303	+	Missense_Mutation	SNP	C	C	T	rs557916487		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:140043303C>T	ENST00000326232.9	-	13	1438	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLC37A3_ENST00000447932.2_Missense_Mutation_p.R396H|SLC37A3_ENST00000340308.3_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	412					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.R412H(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GAGCTCCTGGCGACCCAAGTC	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17859	0.0		0.0	False		,,,				2504	0.0				p.R412H	Esophageal Squamous(133;211 1716 4665 11387 37873)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A	7						.						102.0	89.0	94.0					7																	140043303		2203	4300	6503	139689772	SO:0001583	missense	84255	exon13			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1235G>A	7.37:g.140043303C>T	ENSP00000321498:p.Arg412His		139689772	NM_207113	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267583|3.267583	0.59540|0.59540	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000485538;ENST00000477006|ENST00000447932;ENST00000326232;ENST00000498469	.|T;T;T	.|0.46819	.|2.52;2.5;0.86	5.51|5.51	3.38|3.38	0.38709|0.38709	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.098119	.|0.64402	.|N	.|0.000002	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.39566|0.39566	1.225|1.225	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.30824	.|0.122;0.296;0.131	.|B;B;B	.|0.33960	.|0.049;0.173;0.023	T|T	0.38845|0.38845	-0.9642|-0.9642	5|10	.|0.45353	.|T	.|0.12	-36.7665|-36.7665	13.2165|13.2165	0.59863|0.59863	0.0:0.8489:0.0:0.1511|0.0:0.8489:0.0:0.1511	.|.	.|396;412;24	.|Q8NCC5-2;Q8NCC5;B3KX37	.|.;SPX3_HUMAN;.	T|H	10;50|396;412;51	.|ENSP00000397481:R396H;ENSP00000321498:R412H;ENSP00000418158:R51H	.|ENSP00000321498:R412H	A|R	-|-	1|2	0|0	SLC37A3|SLC37A3	139689772|139689772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.878000|4.878000	0.63093|0.63093	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.458	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295	
DENND2A	27147	broad.mit.edu	37	7	140246737	140246737	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:140246737G>T	ENST00000275884.6	-	12	2457	c.2040C>A	c.(2038-2040)atC>atA	p.I680I	DENND2A_ENST00000537639.1_Silent_p.I680I|DENND2A_ENST00000496613.1_Silent_p.I680I|DENND2A_ENST00000492720.1_Silent_p.I680I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	680	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I680I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCTCATCCAAGATCTGCAAGG	0.527																																					p.I680I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2040A	7						.						61.0	63.0	63.0					7																	140246737		1956	4177	6133	139893206	SO:0001819	synonymous_variant	27147	exon11			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2040C>A	7.37:g.140246737G>T			139893206	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
DENND2A	27147	broad.mit.edu	37	7	140266970	140266970	+	Silent	SNP	G	G	A	rs200641456		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:140266970G>A	ENST00000275884.6	-	8	2112	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	DENND2A_ENST00000537639.1_Silent_p.F565F|DENND2A_ENST00000496613.1_Silent_p.F565F|DENND2A_ENST00000492720.1_Silent_p.F565F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	565					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F565F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTACTCGAAGAGCTGCC	0.592																																					p.F565F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1695T	7						.						37.0	42.0	40.0					7																	140266970		1920	4137	6057	139913439	SO:0001819	synonymous_variant	27147	exon7			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1695C>T	7.37:g.140266970G>A			139913439	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.592	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
DENND2A	27147	broad.mit.edu	37	7	140285476	140285476	+	Silent	SNP	G	G	A	rs544674444		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:140285476G>A	ENST00000275884.6	-	4	1575	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	DENND2A_ENST00000537639.1_Silent_p.I386I|DENND2A_ENST00000496613.1_Silent_p.I386I|DENND2A_ENST00000492720.1_Silent_p.I386I			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	386					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I386I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CATGTAACTCGATGTCCTCAT	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22956	0.0		0.0	False		,,,				2504	0.0				p.I386I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	7						.						174.0	174.0	174.0					7																	140285476		1978	4166	6144	139931945	SO:0001819	synonymous_variant	27147	exon3			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1158C>T	7.37:g.140285476G>A			139931945	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	CCDS43659.1																																																																																				0.488	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
BRAF	673	broad.mit.edu	37	7	140501331	140501331	+	Missense_Mutation	SNP	A	A	C	rs397509343		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:140501331A>C	ENST00000288602.6	-	6	801	c.741T>G	c.(739-741)ttT>ttG	p.F247L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	247					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F247L(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AAAAGTCACAAAATGCTAAGG	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.F247L	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T741G	7						.						47.0	44.0	45.0					7																	140501331		2203	4300	6503	140147800	SO:0001583	missense	673	exon6	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.741T>G	7.37:g.140501331A>C	ENSP00000288602:p.Phe247Leu		140147800	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950970	0.92660	.	.	ENSG00000157764	ENST00000288602	D	0.93659	-3.26	5.43	3.08	0.35506	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.93000	0.7772	M	0.87682	2.9	0.58432	D	0.999999	P	0.43542	0.81	B	0.43950	0.437	D	0.91268	0.5042	10	0.87932	D	0	.	4.5974	0.12336	0.5182:0.0:0.4818:0.0	.	247	P15056	BRAF_HUMAN	L	247	ENSP00000288602:F247L	ENSP00000288602:F247L	F	-	3	2	BRAF	140147800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.373000	0.52394	0.905000	0.36596	0.459000	0.35465	TTT		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
AGK	55750	broad.mit.edu	37	7	141341072	141341072	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141341072T>C	ENST00000355413.4	+	12	1011	c.751T>C	c.(751-753)Tct>Cct	p.S251P	AGK_ENST00000473247.1_Missense_Mutation_p.S223P|AGK_ENST00000535825.1_Intron	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	251					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.S251P(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TCATCAAGCCTCTATCTCATA	0.443																																					p.S251P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T751C	7						.						68.0	65.0	66.0					7																	141341072		2203	4300	6503	140987541	SO:0001583	missense	55750	exon12			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.751T>C	7.37:g.141341072T>C	ENSP00000347581:p.Ser251Pro		140987541	NM_018238	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179407	0.78564	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13089	2.62;2.62	5.51	5.51	0.81932	.	0.098369	0.64402	D	0.000001	T	0.20861	0.0502	M	0.70595	2.14	0.80722	D	1	P	0.47910	0.902	B	0.44278	0.445	T	0.01661	-1.1301	10	0.34782	T	0.22	.	13.4302	0.61051	0.0:0.0:0.0:1.0	.	251	Q53H12	AGK_HUMAN	P	251;223	ENSP00000347581:S251P;ENSP00000420776:S223P	ENSP00000347581:S251P	S	+	1	0	AGK	140987541	0.997000	0.39634	0.995000	0.50966	0.974000	0.67602	1.563000	0.36364	2.225000	0.72522	0.528000	0.53228	TCT		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
TAS2R4	50832	broad.mit.edu	37	7	141478295	141478295	+	Missense_Mutation	SNP	C	C	T	rs368599194		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141478295C>T	ENST00000247881.2	+	1	54	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	3			R -> Q (in dbSNP:rs2233995).		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.R3W(1)		endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAAGATGCTTCGGTTATTCTA	0.368																																					p.R3W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	7						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		7	-0.5	0.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R4	NM_016944.1	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	3/300	141478295	2,13004	2203	4300	6503	141124764	SO:0001583	missense	50832	exon1			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.7C>T	7.37:g.141478295C>T	ENSP00000247881:p.Arg3Trp		141124764	NM_016944	Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	C	3.801	-0.041773	0.07452	2.27E-4	1.16E-4	ENSG00000127364	ENST00000247881	T	0.00784	5.7	5.91	-0.509	0.11977	.	3.248150	0.00682	N	0.000693	T	0.00845	0.0028	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49224	-0.8962	10	0.51188	T	0.08	.	4.5145	0.11928	0.1075:0.4139:0.3378:0.1407	.	3	Q9NYW5	TA2R4_HUMAN	W	3	ENSP00000247881:R3W	ENSP00000247881:R3W	R	+	1	2	TAS2R4	141124764	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.062000	0.11674	-0.681000	0.05204	-1.822000	0.00598	CGG		0.368	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1		
TAS2R4	50832	broad.mit.edu	37	7	141478396	141478396	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141478396C>A	ENST00000247881.2	+	1	155	c.108C>A	c.(106-108)gtC>gtA	p.V36V	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	36					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V36V(1)		endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		AAACTTGGGTCAAAAGCCATA	0.378																																					p.V36V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108A	7						.						148.0	146.0	147.0					7																	141478396		2203	4300	6503	141124865	SO:0001819	synonymous_variant	50832	exon1			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.108C>A	7.37:g.141478396C>A			141124865	NM_016944	Q645W5|Q75MV8	Silent	SNP	ENST00000247881.2	37	CCDS5868.1																																																																																				0.378	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1		
TAS2R5	54429	broad.mit.edu	37	7	141490821	141490821	+	Silent	SNP	G	G	A	rs148483148		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141490821G>A	ENST00000247883.4	+	1	805	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	220					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.A220A(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ACATCACTGCGCTGAAGTCCT	0.517																																					p.A220A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660A	7						.	C		1,4405		0,1,2202	192.0	174.0	180.0		660	-1.2	0.9	7	dbSNP_134	180	0,8600		0,0,4300	no	coding-synonymous	TAS2R5	NM_018980.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		220/300	141490821	1,13005	2203	4300	6503	141137290	SO:0001819	synonymous_variant	54429	exon1			AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.660G>A	7.37:g.141490821G>A			141137290	NM_018980	Q645W0|Q75MV7	Silent	SNP	ENST00000247883.4	37	CCDS5869.1																																																																																				0.517	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1		
OR9A4	130075	broad.mit.edu	37	7	141618707	141618707	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141618707T>G	ENST00000548136.1	+	1	91	c.32T>G	c.(31-33)tTt>tGt	p.F11C	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F11C(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GCCACTGAATTTTATCTCCTT	0.378																																					p.F11C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T32G	7						.						220.0	221.0	221.0					7																	141618707		2072	4222	6294	141265176	SO:0001583	missense	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.32T>G	7.37:g.141618707T>G	ENSP00000448789:p.Phe11Cys		141265176	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916575	0.33815	.	.	ENSG00000258083	ENST00000548136	T	0.04603	3.59	3.88	3.88	0.44766	.	.	.	.	.	T	0.29223	0.0727	H	0.95504	3.68	0.38785	D	0.954843	D	0.89917	1.0	D	0.85130	0.997	T	0.43893	-0.9363	9	0.87932	D	0	-34.9457	10.9854	0.47518	0.0:0.0:0.0:1.0	.	11	Q8NGU2	OR9A4_HUMAN	C	11	ENSP00000448789:F11C	ENSP00000386148:F11C	F	+	2	0	OR9A4	141265176	0.984000	0.35163	0.989000	0.46669	0.065000	0.16274	3.388000	0.52509	1.754000	0.51921	0.523000	0.50628	TTT		0.378	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
OR9A4	130075	broad.mit.edu	37	7	141618903	141618903	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141618903C>T	ENST00000548136.1	+	1	287	c.228C>T	c.(226-228)atC>atT	p.I76I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I76I(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAACCATAATCGTCCCCGTGA	0.507																																					p.I76I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C228T	7						.						121.0	125.0	124.0					7																	141618903		2203	4300	6503	141265372	SO:0001819	synonymous_variant	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.228C>T	7.37:g.141618903C>T			141265372	NM_001001656	B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.507	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
OR9A4	130075	broad.mit.edu	37	7	141619011	141619011	+	Silent	SNP	C	C	T	rs73529456	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141619011C>T	ENST00000548136.1	+	1	395	c.336C>T	c.(334-336)ttC>ttT	p.F112F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F112F(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAACAGAGTTCGCATTACTTG	0.483													C|||	130	0.0259585	0.0961	0.0043	5008	,	,		19569	0.0		0.0	False		,,,				2504	0.0				p.F112F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	7						.	C		328,4076		17,294,1891	119.0	119.0	119.0		336	-2.4	0.0	7	dbSNP_130	119	1,8599		0,1,4299	no	coding-synonymous	OR9A4	NM_001001656.1		17,295,6190	TT,TC,CC		0.0116,7.4478,2.53		112/315	141619011	329,12675	2202	4300	6502	141265480	SO:0001819	synonymous_variant	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.336C>T	7.37:g.141619011C>T			141265480	NM_001001656	B9EGV6|Q6IFI4	Silent	SNP	ENST00000548136.1	37	CCDS43661.1																																																																																				0.483	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
TAS2R38	5726	broad.mit.edu	37	7	141672591	141672591	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141672591C>T	ENST00000547270.1	-	1	982	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	300					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.G300D(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CTTGGCATTGCCTGAGATCAG	0.552																																					p.G300D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	7						.						79.0	69.0	72.0					7																	141672591		2203	4300	6503	141319060	SO:0001583	missense	5726	exon1			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.899G>A	7.37:g.141672591C>T	ENSP00000448219:p.Gly300Asp		141319060	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595803	0.46318	.	.	ENSG00000257138	ENST00000547270	T	0.37411	1.2	5.01	5.01	0.66863	.	0.207947	0.39985	N	0.001205	T	0.52837	0.1759	M	0.80616	2.505	0.31448	N	0.671095	P	0.46912	0.886	P	0.51550	0.673	T	0.64719	-0.6341	10	0.87932	D	0	.	14.0093	0.64486	0.0:1.0:0.0:0.0	.	300	P59533	T2R38_HUMAN	D	300	ENSP00000448219:G300D	ENSP00000331291:G300D	G	-	2	0	TAS2R38	141319060	0.009000	0.17119	0.908000	0.35775	0.037000	0.13140	1.290000	0.33319	2.769000	0.95229	0.655000	0.94253	GGC		0.552	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
MGAM	8972	broad.mit.edu	37	7	141705375	141705375	+	Silent	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141705375G>C	ENST00000549489.2	+	2	140	c.45G>C	c.(43-45)gtG>gtC	p.V15V	MGAM_ENST00000475668.2_Silent_p.V15V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	15					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V15V(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGAGATTGTGCTCAGTGTTC	0.318																																					p.V15V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G45C	7						.						112.0	105.0	107.0					7																	141705375		1843	4094	5937	141351844	SO:0001819	synonymous_variant	8972	exon2			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.45G>C	7.37:g.141705375G>C			141351844	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	CCDS47727.1																																																																																				0.318	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu	37	7	141720869	141720869	+	Missense_Mutation	SNP	C	C	T	rs146995745	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141720869C>T	ENST00000549489.2	+	5	639	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	MGAM_ENST00000475668.2_Missense_Mutation_p.R182C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	182					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R182C(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACATCTAATCGTTTCCACTT	0.343													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16611	0.0		0.0	False		,,,				2504	0.0				p.R182C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C544T	7						.						94.0	85.0	87.0					7																	141720869		1830	4080	5910	141367338	SO:0001583	missense	8972	exon5			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.544C>T	7.37:g.141720869C>T	ENSP00000447378:p.Arg182Cys		141367338	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.18	3.778201	0.70107	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000475668;ENST00000548812	T;D	0.81739	-1.46;-1.53	5.22	5.22	0.72569	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.49916	D	0.000121	D	0.90390	0.6992	M	0.88512	2.96	0.58432	D	0.999999	D	0.71674	0.998	D	0.64042	0.921	D	0.91960	0.5578	10	0.87932	D	0	.	16.3173	0.82932	0.0:1.0:0.0:0.0	.	182	O43451	MGA_HUMAN	C	182;182;182;59	ENSP00000419372:R182C;ENSP00000447378:R182C	ENSP00000316431:R59C	R	+	1	0	MGAM	141367338	1.000000	0.71417	0.739000	0.30968	0.977000	0.68977	6.584000	0.74057	2.711000	0.92665	0.563000	0.77884	CGT		0.343	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141754683C>T	ENST00000549489.2	+	27	3384	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	MGAM_ENST00000475668.2_Missense_Mutation_p.R1097C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1097	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498																																					p.R1097C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3289T	7						.						77.0	74.0	75.0					7																	141754683		1884	4098	5982	141401152	SO:0001583	missense	8972	exon27			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3289C>T	7.37:g.141754683C>T	ENSP00000447378:p.Arg1097Cys		141401152	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277063	0.23307	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.13538	2.58	4.24	2.15	0.27550	Glycoside hydrolase-type carbohydrate-binding (1);	0.774326	0.10690	N	0.645363	T	0.42291	0.1196	M	0.90759	3.145	0.19300	N	0.999978	D	0.89917	1.0	D	0.78314	0.991	T	0.14282	-1.0478	10	0.49607	T	0.09	.	10.2669	0.43460	0.4981:0.5019:0.0:0.0	.	1097	O43451	MGA_HUMAN	C	1097;1097;974	ENSP00000447378:R1097C	ENSP00000316431:R974C	R	+	1	0	MGAM	141401152	0.019000	0.18553	0.004000	0.12327	0.026000	0.11368	1.486000	0.35530	0.682000	0.31407	0.460000	0.39030	CGC		0.498	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
MGAM	8972	broad.mit.edu	37	7	141794584	141794584	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141794584A>C	ENST00000549489.2	+	40	4786	c.4691A>C	c.(4690-4692)gAa>gCa	p.E1564A	MGAM_ENST00000475668.2_Missense_Mutation_p.E2460A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1564	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E1564A(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAAGATGCTGAATATGAGATG	0.493																																					p.E1564A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4691C	7						.						70.0	68.0	69.0					7																	141794584		1880	4109	5989	141441053	SO:0001583	missense	8972	exon40			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4691A>C	7.37:g.141794584A>C	ENSP00000447378:p.Glu1564Ala		141441053	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734668	0.69189	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.93019	-3.15	5.37	5.37	0.77165	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.94843	0.8334	M	0.88031	2.925	0.09310	N	1	B	0.23854	0.092	B	0.37144	0.242	D	0.89774	0.3956	9	0.48119	T	0.1	.	10.2991	0.43642	0.7217:0.2783:0.0:0.0	.	1564	O43451	MGA_HUMAN	A	1564;2461	ENSP00000447378:E1564A	ENSP00000373973:E1564A	E	+	2	0	MGAM	141441053	0.009000	0.17119	0.986000	0.45419	0.955000	0.61496	2.585000	0.46111	2.154000	0.67381	0.533000	0.62120	GAA		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
PRSS58	136541	broad.mit.edu	37	7	141952068	141952068	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:141952068C>A	ENST00000552471.1	-	5	1018	c.699G>T	c.(697-699)tgG>tgT	p.W233C	PRSS58_ENST00000547058.2_Missense_Mutation_p.W233C			Q8IYP2	PRS58_HUMAN	protease, serine, 58	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.W233C(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CATTTTCAATCCAGGGTATAT	0.388																																					p.W233C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	7						.						62.0	72.0	69.0					7																	141952068		2203	4300	6503	141598546	SO:0001583	missense	136541	exon6				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.699G>T	7.37:g.141952068C>A	ENSP00000446916:p.Trp233Cys		141598546	NM_001001317	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354814	0.41700	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.94758	-3.51;-3.51	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98153	0.9390	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98824	1.0748	9	0.87932	D	0	.	14.1973	0.65679	0.0:1.0:0.0:0.0	.	233	Q8IYP2	PRS58_HUMAN	C	233	ENSP00000447588:W233C;ENSP00000446916:W233C	ENSP00000307206:W233C	W	-	3	0	PRSS58	141598546	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.484000	0.53201	2.723000	0.93209	0.655000	0.94253	TGG		0.388	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
TRPV6	55503	broad.mit.edu	37	7	142583228	142583228	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142583228T>C	ENST00000359396.3	-	1	279	c.34A>G	c.(34-36)Att>Gtt	p.I12V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	12					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.I12V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGCAGAGAATTAGCCCTTTC	0.612																																					p.I12V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A34G	7						.						105.0	108.0	107.0					7																	142583228		2203	4300	6503	142293350	SO:0001583	missense	55503	exon1			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.34A>G	7.37:g.142583228T>C	ENSP00000352358:p.Ile12Val		142293350	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	3.929	-0.016497	0.07681	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.76709	-1.04	3.54	-0.966	0.10320	.	0.670897	0.13610	N	0.375214	T	0.63034	0.2477	L	0.40543	1.245	0.23816	N	0.996766	B	0.02656	0.0	B	0.04013	0.001	T	0.51764	-0.8664	10	0.46703	T	0.11	-2.4877	4.3236	0.11029	0.0:0.1209:0.4068:0.4723	.	12	Q9H1D0	TRPV6_HUMAN	V	12	ENSP00000352358:I12V	ENSP00000310825:I12V	I	-	1	0	TRPV6	142293350	0.908000	0.30866	0.946000	0.38457	0.978000	0.69477	0.083000	0.14871	0.075000	0.16796	0.317000	0.21355	ATT		0.612	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV5	56302	broad.mit.edu	37	7	142605700	142605700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142605700C>A	ENST00000265310.1	-	15	2518	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	724	Involved in Ca(2+)-dependent inactivation. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E724*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGACCTCCTCTCCATCCCCC	0.562																																					p.E724X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2170T	7						.						111.0	106.0	108.0					7																	142605700		2203	4300	6503	142315822	SO:0001587	stop_gained	56302	exon15			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.2170G>T	7.37:g.142605700C>A	ENSP00000265310:p.Glu724*		142315822	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235500	0.58886	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	.	.	.	4.99	4.99	0.66335	.	0.421997	0.23842	N	0.044025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.5316	15.5865	0.76489	0.0:1.0:0.0:0.0	.	.	.	.	X	724;669	.	ENSP00000265310:E724X	E	-	1	0	TRPV5	142315822	0.994000	0.37717	1.000000	0.80357	0.098000	0.18820	4.634000	0.61325	2.615000	0.88500	0.655000	0.94253	GAG		0.562	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142606708	142606708	+	Missense_Mutation	SNP	G	G	A	rs148001669		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142606708G>A	ENST00000265310.1	-	14	2191	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	615					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R615C(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATCCCGGAGCGAGGCCACAGG	0.592																																					p.R615C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1843T	7						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	69.0	72.0		1843	4.8	1.0	7	dbSNP_134	72	0,8600		0,0,4300	no	missense	TRPV5	NM_019841.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	615/730	142606708	1,13005	2203	4300	6503	142316830	SO:0001583	missense	56302	exon14			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1843C>T	7.37:g.142606708G>A	ENSP00000265310:p.Arg615Cys		142316830	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182709	0.78677	2.27E-4	0.0	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.82711	-1.58;-1.64	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.83384	2.64	0.80722	D	1	B	0.33318	0.408	B	0.26693	0.072	D	0.84228	0.0465	10	0.87932	D	0	-14.5709	12.4738	0.55801	0.0:0.0:0.833:0.167	.	615	Q9NQA5	TRPV5_HUMAN	C	615;560	ENSP00000265310:R615C;ENSP00000406361:R560C	ENSP00000265310:R615C	R	-	1	0	TRPV5	142316830	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.932000	0.63476	2.672000	0.90937	0.655000	0.94253	CGC		0.592	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142622661	142622661	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142622661G>T	ENST00000265310.1	-	8	1433	c.1085C>A	c.(1084-1086)tCt>tAt	p.S362Y	TRPV5_ENST00000442623.1_Missense_Mutation_p.S362Y	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	362					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S362Y(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GATGTCTCGAGAATGAGTGCG	0.512																																					p.S362Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1085A	7						.						109.0	97.0	101.0					7																	142622661		2203	4300	6503	142332783	SO:0001583	missense	56302	exon8			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1085C>A	7.37:g.142622661G>T	ENSP00000265310:p.Ser362Tyr		142332783	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845596	0.51164	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	D;D;D	0.85556	-2.0;-2.0;-2.0	5.18	3.22	0.36961	.	1.130910	0.06361	N	0.711692	D	0.84488	0.5483	L	0.56769	1.78	0.09310	N	0.999997	P;P	0.37663	0.604;0.604	P;B	0.46510	0.519;0.332	T	0.69606	-0.5100	10	0.12766	T	0.61	-2.0212	5.047	0.14488	0.0874:0.154:0.6191:0.1396	.	362;362	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	Y	362;307;362	ENSP00000265310:S362Y;ENSP00000406361:S307Y;ENSP00000406572:S362Y	ENSP00000265310:S362Y	S	-	2	0	TRPV5	142332783	0.156000	0.22821	0.108000	0.21378	0.971000	0.66376	0.953000	0.29162	1.287000	0.44583	0.655000	0.94253	TCT		0.512	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142626211	142626211	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142626211C>A	ENST00000265310.1	-	5	840	c.492G>T	c.(490-492)gaG>gaT	p.E164D	TRPV5_ENST00000442623.1_Missense_Mutation_p.E164D	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	164					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E164D(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACAAAGGGTGCTCCCCTGTGG	0.592																																					p.E164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	7						.						62.0	50.0	54.0					7																	142626211		2203	4300	6503	142336333	SO:0001583	missense	56302	exon5			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.492G>T	7.37:g.142626211C>A	ENSP00000265310:p.Glu164Asp		142336333	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695053	0.68386	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.64085	-0.08;-0.08;-0.08	4.2	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.38692	1.165	0.58432	D	0.999999	P;D	0.71674	0.945;0.998	P;D	0.76071	0.818;0.987	T	0.66771	-0.5839	10	0.72032	D	0.01	-7.3749	7.496	0.27490	0.0:0.7728:0.0:0.2272	.	164;164	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	D	164;158;164	ENSP00000265310:E164D;ENSP00000406361:E158D;ENSP00000406572:E164D	ENSP00000265310:E164D	E	-	3	2	TRPV5	142336333	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.307000	0.33516	1.092000	0.41356	0.462000	0.41574	GAG		0.592	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KEL	3792	broad.mit.edu	37	7	142638474	142638474	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142638474C>T	ENST00000355265.2	-	19	2538	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	688					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q688Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTGAGAGTCCTGGGGGCTGG	0.617																																					p.Q688Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2064A	7						.						99.0	102.0	101.0					7																	142638474		2203	4300	6503	142348596	SO:0001819	synonymous_variant	3792	exon19			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2064G>A	7.37:g.142638474C>T			142348596	NM_000420	B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	CCDS34766.1																																																																																				0.617	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142649704C>A	ENST00000355265.2	-	10	1569	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	365					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.M365I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527																																					p.M365I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1095T	7						.						90.0	76.0	81.0					7																	142649704		2203	4300	6503	142359826	SO:0001583	missense	3792	exon10			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1095G>T	7.37:g.142649704C>A	ENSP00000347409:p.Met365Ile		142359826	NM_000420	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730283	0.48939	.	.	ENSG00000197993	ENST00000355265	T	0.72725	-0.68	5.55	4.68	0.58851	Peptidase M13 (1);	0.073826	0.56097	N	0.000021	T	0.64125	0.2570	L	0.55481	1.735	0.42035	D	0.991043	B	0.13145	0.007	B	0.12837	0.008	T	0.62105	-0.6924	10	0.42905	T	0.14	0.0014	10.2354	0.43280	0.0:0.9115:0.0:0.0885	.	365	P23276	KELL_HUMAN	I	365	ENSP00000347409:M365I	ENSP00000347409:M365I	M	-	3	0	KEL	142359826	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.792000	0.47837	1.594000	0.50039	0.655000	0.94253	ATG		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
OR9A2	135924	broad.mit.edu	37	7	142724124	142724124	+	Missense_Mutation	SNP	G	G	T	rs142788435		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142724124G>T	ENST00000350513.2	-	1	158	c.96C>A	c.(94-96)ttC>ttA	p.F32L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F32F(1)|p.F32L(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTAAATAGAAGAAAAAGAATA	0.433																																					p.F32L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|skin(1)	c.C96A	7						.						88.0	91.0	90.0					7																	142724124		2203	4300	6503	142434246	SO:0001583	missense	135924	exon1				CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.96C>A	7.37:g.142724124G>T	ENSP00000316518:p.Phe32Leu		142434246	NM_001001658	B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.666359	0.00105	.	.	ENSG00000179468	ENST00000350513	T	0.00424	7.45	3.93	1.98	0.26296	.	0.232593	0.21933	N	0.066986	T	0.00109	0.0003	N	0.03930	-0.32	0.19300	N	0.999972	B	0.06786	0.001	B	0.08055	0.003	T	0.40979	-0.9534	10	0.02654	T	1	-12.9894	2.5182	0.04674	0.1068:0.192:0.5032:0.198	.	32	Q8NGT5	OR9A2_HUMAN	L	32	ENSP00000316518:F32L	ENSP00000316518:F32L	F	-	3	2	OR9A2	142434246	0.000000	0.05858	0.033000	0.17914	0.017000	0.09413	-0.155000	0.10115	0.373000	0.24621	-0.516000	0.04426	TTC		0.433	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1		
PIP	5304	broad.mit.edu	37	7	142832372	142832372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142832372G>T	ENST00000291009.3	+	2	221	c.181G>T	c.(181-183)Gaa>Taa	p.E61*		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)	p.E61*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGTTCAAACAGAATTGAAAGA	0.378																																					p.E61X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G181T	7						.						59.0	54.0	56.0					7																	142832372		2203	4299	6502	142542494	SO:0001587	stop_gained	5304	exon2				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.181G>T	7.37:g.142832372G>T	ENSP00000291009:p.Glu61*		142542494	NM_002652	A0A963|A0A9C3|A0A9F3|A4D2I1	Nonsense_Mutation	SNP	ENST00000291009.3	37	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312045	0.40895	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.55	-0.609	0.11608	.	0.979395	0.08363	N	0.957405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	4.501	0.11863	0.2837:0.3277:0.3886:0.0	.	.	.	.	X	61	.	ENSP00000291009:E61X	E	+	1	0	PIP	142542494	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.735000	0.04888	-0.215000	0.10063	-0.142000	0.14014	GAA		0.378	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	
TAS2R40	259286	broad.mit.edu	37	7	142919225	142919225	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:142919225C>A	ENST00000408947.3	+	1	96	c.54C>A	c.(52-54)gtC>gtA	p.V18V	AC073342.1_ENST00000595842.1_Missense_Mutation_p.D46Y	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	18					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.V18V(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGTTCAAGGTCACCTTCACTT	0.502																																					p.V18V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C54A	7						.						110.0	112.0	111.0					7																	142919225		2033	4181	6214	142629347	SO:0001819	synonymous_variant	259286	exon1			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.54C>A	7.37:g.142919225C>A			142629347	NM_176882	A4D2I2|Q645W6	Silent	SNP	ENST00000408947.3	37	CCDS43662.1																																																																																				0.502	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1		
CLCN1	1180	broad.mit.edu	37	7	143017790	143017790	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143017790G>A	ENST00000343257.2	+	3	422	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	112					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R112K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGGTGAGAAGAAAATTAGGG	0.448																																					p.R112K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	7						.						163.0	133.0	143.0					7																	143017790		2203	4300	6503	142727912	SO:0001583	missense	1180	exon3			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.335G>A	7.37:g.143017790G>A	ENSP00000339867:p.Arg112Lys		142727912	NM_000083	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.401945	0.42613	.	.	ENSG00000188037	ENST00000343257	D	0.92805	-3.11	4.99	4.99	0.66335	Chloride channel, core (2);	0.115950	0.64402	D	0.000016	D	0.86740	0.6005	L	0.47190	1.495	0.30307	N	0.788861	B	0.13145	0.007	B	0.06405	0.002	T	0.76761	-0.2840	10	0.15066	T	0.55	.	9.5235	0.39149	0.096:0.0:0.904:0.0	.	112	P35523	CLCN1_HUMAN	K	112	ENSP00000339867:R112K	ENSP00000339867:R112K	R	+	2	0	CLCN1	142727912	.	.	0.694000	0.30210	0.896000	0.52359	.	.	2.333000	0.79357	0.650000	0.86243	AGA		0.448	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
CLCN1	1180	broad.mit.edu	37	7	143028407	143028407	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143028407C>T	ENST00000343257.2	+	9	1149	c.1062C>T	c.(1060-1062)atC>atT	p.I354I		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	354					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I354I(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGCCATCGGGTCAGTGG	0.527																																					p.I354I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	7						.						120.0	108.0	112.0					7																	143028407		2203	4300	6503	142738529	SO:0001819	synonymous_variant	1180	exon9			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1062C>T	7.37:g.143028407C>T			142738529	NM_000083	A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	CCDS5881.1																																																																																				0.527	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
CLCN1	1180	broad.mit.edu	37	7	143039197	143039197	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143039197G>T	ENST00000343257.2	+	15	1845	c.1758G>T	c.(1756-1758)aaG>aaT	p.K586N		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	586					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.K586N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGTCAAGAAGCTACCCTACT	0.552																																					p.K586N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1758T	7						.						81.0	74.0	76.0					7																	143039197		2203	4300	6503	142749319	SO:0001583	missense	1180	exon15			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1758G>T	7.37:g.143039197G>T	ENSP00000339867:p.Lys586Asn		142749319	NM_000083	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457330	0.84317	.	.	ENSG00000188037	ENST00000343257	D	0.92752	-3.1	6.04	5.15	0.70609	Chloride channel, core (2);	0.088817	0.85682	D	0.000000	D	0.94621	0.8266	L	0.58428	1.81	0.58432	D	0.999992	D	0.89917	1.0	D	0.73708	0.981	D	0.93938	0.7220	10	0.51188	T	0.08	.	14.7504	0.69522	0.0686:0.0:0.9314:0.0	.	586	P35523	CLCN1_HUMAN	N	586	ENSP00000339867:K586N	ENSP00000339867:K586N	K	+	3	2	CLCN1	142749319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.780000	0.75063	2.873000	0.98535	0.643000	0.83706	AAG		0.552	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
FAM131B	9715	broad.mit.edu	37	7	143054021	143054021	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143054021G>A	ENST00000409408.1	-	6	2329	c.621C>T	c.(619-621)agC>agT	p.S207S	FAM131B_ENST00000409346.1_Silent_p.S207S|FAM131B_ENST00000443739.2_Silent_p.S235S|FAM131B_ENST00000409578.1_Silent_p.S223S|FAM131B_ENST00000409222.3_Silent_p.S207S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	207								p.S207S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGGACTGATCGCTGGCTTCCC	0.562																																					p.S235S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705T	7						.						64.0	59.0	61.0					7																	143054021		2203	4300	6503	142764143	SO:0001819	synonymous_variant	9715	exon7			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.621C>T	7.37:g.143054021G>A			142764143	NM_001031690	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Silent	SNP	ENST00000409408.1	37	CCDS5882.1																																																																																				0.562	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690	
ZYX	7791	broad.mit.edu	37	7	143080204	143080204	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143080204C>A	ENST00000322764.5	+	5	1157	c.812C>A	c.(811-813)cCt>cAt	p.P271H	ZYX_ENST00000449423.2_Missense_Mutation_p.P184H|ZYX_ENST00000392910.2_Missense_Mutation_p.P114H|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000477373.1_3'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	271					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P271H(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCAGTGACTCCTAAGTTTACT	0.572																																					p.P271H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812A	7						.						112.0	138.0	129.0					7																	143080204		2203	4300	6503	142790326	SO:0001583	missense	7791	exon5			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.812C>A	7.37:g.143080204C>A	ENSP00000324422:p.Pro271His		142790326	NM_003461	A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038405	0.19669	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910	T;T;T;T	0.55052	0.67;0.6;0.55;0.54	4.25	3.35	0.38373	.	0.086968	0.47093	N	0.000241	T	0.63522	0.2518	M	0.63428	1.95	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61397	0.888;0.841	T	0.55927	-0.8063	10	0.59425	D	0.04	.	10.4387	0.44452	0.35:0.65:0.0:0.0	.	184;271	B4DQR8;Q15942	.;ZYX_HUMAN	H	271;239;184;114	ENSP00000324422:P271H;ENSP00000346417:P239H;ENSP00000394158:P184H;ENSP00000376642:P114H	ENSP00000324422:P271H	P	+	2	0	ZYX	142790326	0.667000	0.27484	0.883000	0.34634	0.155000	0.21991	2.758000	0.47565	0.749000	0.32854	-0.182000	0.12963	CCT		0.572	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461	
EPHA1	2041	broad.mit.edu	37	7	143095468	143095468	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143095468G>A	ENST00000275815.3	-	7	1496	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	470	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)	p.S470S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGCCGGGACCCCGCCC	0.602																																					p.S470S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1410T	7						.						48.0	51.0	50.0					7																	143095468		2203	4300	6503	142805590	SO:0001819	synonymous_variant	2041	exon7			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1410C>T	7.37:g.143095468G>A			142805590	NM_005232	A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	ENST00000275815.3	37	CCDS5884.1																																																																																				0.602	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		
TAS2R60	338398	broad.mit.edu	37	7	143140577	143140577	+	Missense_Mutation	SNP	C	C	T	rs144050978		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143140577C>T	ENST00000332690.1	+	1	32	c.32C>T	c.(31-33)tCg>tTg	p.S11L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	11					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S11L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTAGGATCTTCGGTGACTGAC	0.498																																					p.S11L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C32T	7						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	202.0	189.0	193.0		32	-9.4	0.0	7	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TAS2R60	NM_177437.1	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	11/319	143140577	2,13004	2203	4300	6503	142850699	SO:0001583	missense	338398	exon1			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.32C>T	7.37:g.143140577C>T	ENSP00000327724:p.Ser11Leu		142850699	NM_177437	A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	9.204	1.029302	0.19512	2.27E-4	1.16E-4	ENSG00000185899	ENST00000332690	T	0.38401	1.14	4.72	-9.43	0.00607	.	2.502070	0.02146	N	0.057611	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	10	0.36615	T	0.2	.	3.9768	0.09478	0.2212:0.1192:0.0858:0.5739	.	11	P59551	T2R60_HUMAN	L	11	ENSP00000327724:S11L	ENSP00000327724:S11L	S	+	2	0	TAS2R60	142850699	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.115000	0.01328	-2.448000	0.00545	-0.812000	0.03155	TCG		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1		
TAS2R41	259287	broad.mit.edu	37	7	143175841	143175841	+	Silent	SNP	C	C	T	rs202050176		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143175841C>T	ENST00000408916.1	+	1	876	c.876C>T	c.(874-876)agC>agT	p.S292S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	292					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S292S(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AGCTTCGAAGCGTGTTCTCGC	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21194	0.0		0.0	False		,,,				2504	0.0				p.S292S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	7						.	C		0,4126		0,0,2063	106.0	98.0	101.0		876	-3.9	0.0	7		101	1,8391		0,1,4195	no	coding-synonymous	TAS2R41	NM_176883.2		0,1,6258	TT,TC,CC		0.0119,0.0,0.0080		292/308	143175841	1,12517	2063	4196	6259	142885963	SO:0001819	synonymous_variant	259287	exon1			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.876C>T	7.37:g.143175841C>T			142885963	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	CCDS43663.1																																																																																				0.517	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
CTAGE15	441294	broad.mit.edu	37	7	143270136	143270136	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143270136G>A	ENST00000420911.2	+	1	1243	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	409						integral component of membrane (GO:0016021)											GAAAATTACCGAATAGAGGAA	0.378																																					p.R409Q												.	.	0			c.G1226A	7						.						33.0	36.0	35.0					7																	143270136		1646	3652	5298	142980258	SO:0001583	missense	441294	exon1				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"""CTAGE family, member 15, pseudogene"""	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	ENST00000420911.2:c.1226G>A	7.37:g.143270136G>A	ENSP00000474204:p.Arg409Gln		142980258	NM_001008747	A6H8Z8	Missense_Mutation	SNP	ENST00000420911.2	37																																																																																					0.378	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330280.2	NM_001008747	
FAM115C	285966	broad.mit.edu	37	7	143417173	143417173	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143417173G>T	ENST00000441159.2	+	3	1087	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	FAM115C_ENST00000411497.2_Missense_Mutation_p.D60Y|FAM115C_ENST00000444908.2_Missense_Mutation_p.D341Y|FAM115C_ENST00000409703.3_Missense_Mutation_p.D177Y|FAM115C_ENST00000425618.2_Missense_Mutation_p.D60Y|FAM115C_ENST00000357344.4_Missense_Mutation_p.D341Y|FAM115C_ENST00000411935.1_Missense_Mutation_p.D177Y			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	341					hematopoietic progenitor cell differentiation (GO:0002244)			p.D341Y(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GGCGTACAGTGACAAGGAGGC	0.602																																					p.D177Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529T	7						.						65.0	68.0	67.0					7																	143417173		2147	4288	6435	143048106	SO:0001583	missense	285966	exon2			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1021G>T	7.37:g.143417173G>T	ENSP00000404265:p.Asp341Tyr		143048106	NM_001130026	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.87|13.87	2.366962|2.366962	0.41902|0.41902	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618|ENST00000518791	T;T;T;T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01;2.01;2.01;2.01|.	3.58|3.58	2.69|2.69	0.31865|0.31865	.|.	0.250346|.	0.45361|.	D|.	0.000377|.	T|.	0.70692|.	0.3253|.	M|M	0.88377|0.88377	2.95|2.95	0.33587|0.33587	D|D	0.600564|0.600564	D;D;D;D|.	0.89917|.	1.0;0.998;0.996;0.999|.	D;D;P;D|.	0.78314|.	0.991;0.928;0.838;0.967|.	T|.	0.77384|.	-0.2608|.	10|.	0.87932|.	D|.	0|.	-16.0425|-16.0425	7.4885|7.4885	0.27447|0.27447	0.1292:0.0:0.8708:0.0|0.1292:0.0:0.8708:0.0	.|.	177;341;60;341|.	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2|.	.;F115C_HUMAN;.;.|.	Y|L	341;60;341;341;177;177;60|155	ENSP00000412724:D341Y;ENSP00000390603:D60Y;ENSP00000349902:D341Y;ENSP00000404265:D341Y;ENSP00000389100:D177Y;ENSP00000386405:D177Y;ENSP00000441099:D60Y|.	ENSP00000349902:D341Y|.	D|X	+|+	1|2	0|2	FAM115C|FAM115C	143048106|143048106	0.890000|0.890000	0.30428|0.30428	0.043000|0.043000	0.18650|0.18650	0.808000|0.808000	0.45660|0.45660	4.487000|4.487000	0.60293|0.60293	0.788000|0.788000	0.33755|0.33755	0.411000|0.411000	0.27672|0.27672	GAC|TGA		0.602	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678	
FAM115C	285966	broad.mit.edu	37	7	143421714	143421714	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143421714G>T	ENST00000441159.2	+	7	2495	c.2429G>T	c.(2428-2430)aGa>aTa	p.R810I	FAM115C_ENST00000411497.2_Missense_Mutation_p.R529I|FAM115C_ENST00000444908.2_Missense_Mutation_p.R810I|FAM115C_ENST00000409703.3_Missense_Mutation_p.R706I|FAM115C_ENST00000425618.2_Missense_Mutation_p.R529I|FAM115C_ENST00000357344.4_Missense_Mutation_p.R810I|FAM115C_ENST00000411935.1_Missense_Mutation_p.R706I			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	810	Peptidase M60.				hematopoietic progenitor cell differentiation (GO:0002244)			p.R810I(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CGAGAGAGGAGAATCAAGGCC	0.567																																					p.R706I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2117T	7						.						25.0	25.0	25.0					7																	143421714		2202	4296	6498	143052647	SO:0001583	missense	285966	exon7			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.2429G>T	7.37:g.143421714G>T	ENSP00000404265:p.Arg810Ile		143052647	NM_001130026	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.66|14.66	2.603140|2.603140	0.46423|0.46423	.|.	.|.	ENSG00000170379|ENSG00000170379	ENST00000518791|ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.|.	.|.	.|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81168|0.81168	0.4766|0.4766	M|M	0.88640|0.88640	2.97|2.97	0.40087|0.40087	D|D	0.976206|0.976206	.|D;D;D;D	.|0.89917	.|0.961;0.999;1.0;1.0	.|P;D;D;D	.|0.97110	.|0.848;0.992;1.0;0.995	D|D	0.84417|0.84417	0.0569|0.0569	5|9	.|0.46703	.|T	.|0.11	-32.1436|-32.1436	14.4736|14.4736	0.67533|0.67533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|706;810;529;810	.|A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.|.;F115C_HUMAN;.;.	D|I	624|810;529;810;810;706;706;529	.|.	.|ENSP00000349902:R810I	E|R	+|+	3|2	2|0	FAM115C|FAM115C	143052647|143052647	1.000000|1.000000	0.71417|0.71417	0.126000|0.126000	0.21872|0.21872	0.005000|0.005000	0.04900|0.04900	5.328000|5.328000	0.65887|0.65887	2.078000|2.078000	0.62432|0.62432	0.411000|0.411000	0.27672|0.27672	GAG|AGA		0.567	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1	NM_173678	
CTAGE6	340307	broad.mit.edu	37	7	143453459	143453459	+	Missense_Mutation	SNP	C	C	A	rs536781747		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143453459C>A	ENST00000470691.2	-	1	1330	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	431						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TTCTATAGGTCTCCAGCTGTT	0.388																																					p.E431D												.	.	0			c.G1293T	7						.						107.0	98.0	101.0					7																	143453459		1930	4157	6087	143084392	SO:0001583	missense	340307	exon1			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1293G>T	7.37:g.143453459C>A	ENSP00000474388:p.Glu431Asp		143084392	NM_178561	A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.388	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561	
CTAGE6	340307	broad.mit.edu	37	7	143453582	143453582	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143453582G>T	ENST00000470691.2	-	1	1207	c.1170C>A	c.(1168-1170)ttC>ttA	p.F390L	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	390						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					CTTCTTGATAGAATTCAGTCA	0.313																																					p.F390L												.	.	0			c.C1170A	7						.						90.0	73.0	78.0					7																	143453582		1905	4167	6072	143084515	SO:0001583	missense	340307	exon1			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1170C>A	7.37:g.143453582G>T	ENSP00000474388:p.Phe390Leu		143084515	NM_178561	A4FU29|Q3ZCM5	Missense_Mutation	SNP	ENST00000470691.2	37																																																																																					0.313	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561	
OR2F1	26211	broad.mit.edu	37	7	143657246	143657246	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143657246C>A	ENST00000392899.1	+	1	220	c.183C>A	c.(181-183)ttC>ttA	p.F61L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	61					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F61L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCATGTATTTCTTTCTCACCA	0.498																																					p.F61L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C183A	7						.						274.0	262.0	266.0					7																	143657246		2203	4298	6501	143288179	SO:0001583	missense	26211	exon1			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.183C>A	7.37:g.143657246C>A	ENSP00000376633:p.Phe61Leu		143288179	NM_012369	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689365	0.48097	.	.	ENSG00000213215	ENST00000392899	T	0.00551	6.65	5.65	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.00815	0.0027	M	0.83012	2.62	0.39113	D	0.961519	B	0.14438	0.01	B	0.13407	0.009	T	0.52704	-0.8540	10	0.87932	D	0	-53.3045	5.6131	0.17416	0.1559:0.6842:0.0:0.1599	.	61	Q13607	OR2F1_HUMAN	L	61	ENSP00000376633:F61L	ENSP00000376633:F61L	F	+	3	2	OR2F1	143288179	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.446000	0.21694	0.946000	0.37632	0.655000	0.94253	TTC		0.498	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
OR2F1	26211	broad.mit.edu	37	7	143657768	143657768	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143657768G>T	ENST00000392899.1	+	1	742	c.705G>T	c.(703-705)aaG>aaT	p.K235N	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	235					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGGAAGAAAGAAAGCTTTCC	0.502																																					p.K235N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705T	7						.						183.0	158.0	167.0					7																	143657768		2203	4300	6503	143288701	SO:0001583	missense	26211	exon1			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.705G>T	7.37:g.143657768G>T	ENSP00000376633:p.Lys235Asn		143288701	NM_012369	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511243	0.44660	.	.	ENSG00000213215	ENST00000392899	T	0.00495	6.99	5.53	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.358433	0.24072	N	0.041820	T	0.00784	0.0026	L	0.46614	1.455	0.29098	N	0.881648	P	0.34587	0.458	P	0.48141	0.568	T	0.21965	-1.0230	10	0.62326	D	0.03	-4.5588	9.0966	0.36642	0.077:0.4362:0.4869:0.0	.	235	Q13607	OR2F1_HUMAN	N	235	ENSP00000376633:K235N	ENSP00000376633:K235N	K	+	3	2	OR2F1	143288701	0.056000	0.20664	0.461000	0.27105	0.673000	0.39480	0.251000	0.18257	0.430000	0.26230	0.655000	0.94253	AAG		0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1		
OR6B1	135946	broad.mit.edu	37	7	143701794	143701794	+	Silent	SNP	G	G	A	rs150940478	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143701794G>A	ENST00000408922.2	+	1	773	c.705G>A	c.(703-705)gcG>gcA	p.A235A		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A235A(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AGCAGAAAGCGTTCTCCACTT	0.463													G|||	5	0.000998403	0.0038	0.0	5008	,	,		24020	0.0		0.0	False		,,,				2504	0.0				p.A235A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G705A	7						.	G		2,4064		0,2,2031	197.0	188.0	191.0		705	-7.8	0.7	7	dbSNP_134	191	0,8368		0,0,4184	no	coding-synonymous	OR6B1	NM_001005281.1		0,2,6215	AA,AG,GG		0.0,0.0492,0.0161		235/312	143701794	2,12432	2033	4184	6217	143332727	SO:0001819	synonymous_variant	135946	exon1				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.705G>A	7.37:g.143701794G>A			143332727	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	CCDS43667.1																																																																																				0.463	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
OR2A2	442361	broad.mit.edu	37	7	143806690	143806690	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143806690G>T	ENST00000408979.2	+	1	84	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	5			Q -> K (in dbSNP:rs10230228).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q5H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGCAACCAGACATGGATCA	0.507																																					p.Q5H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15T	7						.						108.0	105.0	106.0					7																	143806690		2009	4188	6197	143437623	SO:0001583	missense	442361	exon1				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.15G>T	7.37:g.143806690G>T	ENSP00000386209:p.Gln5His		143437623	NM_001005480	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645927	0.29246	.	.	ENSG00000221989	ENST00000408979	T	0.00649	5.98	3.61	2.71	0.32032	.	.	.	.	.	T	0.00608	0.0020	N	0.21508	0.67	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	T	0.47774	-0.9091	9	0.49607	T	0.09	.	6.8737	0.24135	0.1329:0.0:0.8671:0.0	.	5	Q6IF42	OR2A2_HUMAN	H	5	ENSP00000386209:Q5H	ENSP00000386209:Q5H	Q	+	3	2	OR2A2	143437623	0.000000	0.05858	0.991000	0.47740	0.994000	0.84299	-0.419000	0.07071	0.842000	0.35045	0.609000	0.83330	CAG		0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
OR2A2	442361	broad.mit.edu	37	7	143806972	143806972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:143806972G>T	ENST00000408979.2	+	1	366	c.297G>T	c.(295-297)caG>caT	p.Q99H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q99H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCATAATGCAGACTTTTTTGT	0.428																																					p.Q99H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	7						.						230.0	211.0	217.0					7																	143806972		2021	4211	6232	143437905	SO:0001583	missense	442361	exon1				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.297G>T	7.37:g.143806972G>T	ENSP00000386209:p.Gln99His		143437905	NM_001005480	B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813243	0.16537	.	.	ENSG00000221989	ENST00000408979	T	0.00472	7.19	3.61	0.638	0.17742	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02012	0.0063	H	0.96691	3.865	0.29634	N	0.845217	D	0.89917	1.0	D	0.75484	0.986	T	0.12016	-1.0564	9	0.87932	D	0	-11.8729	6.2082	0.20613	0.4976:0.0:0.5024:0.0	.	99	Q6IF42	OR2A2_HUMAN	H	99	ENSP00000386209:Q99H	ENSP00000386209:Q99H	Q	+	3	2	OR2A2	143437905	0.525000	0.26290	0.016000	0.15963	0.013000	0.08279	0.454000	0.21827	0.006000	0.14734	-0.192000	0.12808	CAG		0.428	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
OR2A1	346528	broad.mit.edu	37	7	144015544	144015544	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:144015544C>T	ENST00000408951.1	+	1	327	c.327C>T	c.(325-327)agC>agT	p.S109S	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S109S(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TTGGACACAGCGAATGTCTCC	0.567																																					p.S103S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	7						.						107.0	124.0	118.0					7																	144015544		2202	4294	6496	143646477	SO:0001819	synonymous_variant	441295	exon1				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.327C>T	7.37:g.144015544C>T			143646477	NM_001001802	Q6IF44|Q96R46	Intron	SNP	ENST00000408951.1	37	CCDS43673.1																																																																																				0.567	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1		
TPK1	27010	broad.mit.edu	37	7	144288524	144288524	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:144288524G>T	ENST00000360057.3	-	7	595	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	TPK1_ENST00000378099.3_Intron|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_Missense_Mutation_p.L48I	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	165					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.L165I(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACTGGTTGGAGCAGGTAGATC	0.418																																					p.L165I	Ovarian(45;88 1034 2073 5829 28455)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493A	7						.						141.0	141.0	141.0					7																	144288524		2203	4300	6503	143919457	SO:0001583	missense	27010	exon7			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.493C>A	7.37:g.144288524G>T	ENSP00000353165:p.Leu165Ile		143919457	NM_022445	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284940	0.80803	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	T;D	0.90004	-1.29;-2.6	5.78	5.78	0.91487	Thiamin pyrophosphokinase, vitamin B1-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.82923	2.615	0.80722	D	1	D	0.60160	0.987	P	0.56434	0.798	D	0.91959	0.5577	10	0.31617	T	0.26	-7.0755	17.5062	0.87746	0.0:0.0:1.0:0.0	.	165	Q9H3S4	TPK1_HUMAN	I	165;48;165	ENSP00000353165:L165I;ENSP00000448655:L165I	ENSP00000353165:L165I	L	-	1	0	TPK1	143919457	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	8.218000	0.89768	2.749000	0.94314	0.655000	0.94253	CTC		0.418	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
TPK1	27010	broad.mit.edu	37	7	144320270	144320270	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:144320270T>G	ENST00000360057.3	-	6	445	c.343A>C	c.(343-345)Aaa>Caa	p.K115Q	TPK1_ENST00000378099.3_Missense_Mutation_p.K115Q|TPK1_ENST00000538212.2_Missense_Mutation_p.K110Q|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	115					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.K115Q(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTTAAGTCTTTTTCTTCTATC	0.318																																					p.K115Q	Ovarian(45;88 1034 2073 5829 28455)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A343C	7						.						168.0	179.0	175.0					7																	144320270		2203	4300	6503	143951203	SO:0001583	missense	27010	exon6			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.343A>C	7.37:g.144320270T>G	ENSP00000353165:p.Lys115Gln		143951203	NM_022445	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406519	0.25378	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000552881	D;T;D;D	0.83163	-1.69;-1.13;-1.64;-1.69	5.78	4.63	0.57726	Thiamin pyrophosphokinase, catalytic domain (3);	0.229182	0.51477	D	0.000085	T	0.72526	0.3471	L	0.42008	1.315	0.80722	D	1	B;B;B	0.32128	0.158;0.006;0.357	B;B;B	0.30316	0.046;0.002;0.114	T	0.64309	-0.6438	10	0.12766	T	0.61	-13.7889	8.6143	0.33822	0.0:0.0861:0.0:0.9139	.	115;115;110	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	Q	115;110;115;115	ENSP00000353165:K115Q;ENSP00000438813:K110Q;ENSP00000367339:K115Q;ENSP00000448655:K115Q	ENSP00000353165:K115Q	K	-	1	0	TPK1	143951203	0.080000	0.21391	0.970000	0.41538	0.361000	0.29550	2.302000	0.43637	1.034000	0.39945	0.533000	0.62120	AAA		0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
DGKB	1607	broad.mit.edu	37	7	14613907	14613907	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:14613907G>T	ENST00000403951.2	-	20	2122	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	DGKB_ENST00000407950.1_Missense_Mutation_p.P560H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P568H|DGKB_ENST00000258767.5_Missense_Mutation_p.P568H|DGKB_ENST00000399322.3_Missense_Mutation_p.P568H|DGKB_ENST00000444700.2_Missense_Mutation_p.P549H|DGKB_ENST00000402815.1_Missense_Mutation_p.P567H			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	568	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P568H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTTGTCATTAGGTATGACTTC	0.373																																					p.P568H												DGKB,lung,NS,Substitution - Missense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1703A	7						.						230.0	214.0	219.0					7																	14613907		1898	4116	6014	14580432	SO:0001583	missense	1607	exon19			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1703C>A	7.37:g.14613907G>T	ENSP00000385780:p.Pro568His		14580432	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716879	0.89205	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.81163	-1.37;-1.37;-1.37;-1.37;-1.37;-1.36;-1.46	5.54	5.54	0.83059	Diacylglycerol kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.995;0.999	D;D;D;D	0.74023	0.982;0.929;0.952;0.923	D	0.91107	0.4919	10	0.52906	T	0.07	.	19.4712	0.94963	0.0:0.0:1.0:0.0	.	567;549;568;568	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	H	568;568;568;567;560;549;568	ENSP00000385780:P568H;ENSP00000382260:P568H;ENSP00000258767:P568H;ENSP00000384909:P567H;ENSP00000385031:P560H;ENSP00000388451:P549H;ENSP00000386066:P568H	ENSP00000258767:P568H	P	-	2	0	DGKB	14580432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.597000	0.87782	0.561000	0.74099	CCT		0.373	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
TPK1	27010	broad.mit.edu	37	7	144380018	144380018	+	Missense_Mutation	SNP	C	C	T	rs200717734		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:144380018C>T	ENST00000360057.3	-	4	271	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	TPK1_ENST00000378099.3_Missense_Mutation_p.E57K|TPK1_ENST00000538212.2_Silent_p.P11P|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	57					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)	p.E57K(1)|p.E57Q(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CTCTCTCCTTCGGTGATATCA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19760	0.0		0.001	False		,,,				2504	0.0				p.E57K	Ovarian(45;88 1034 2073 5829 28455)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G169A	7						.	C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	203.0	200.0	201.0		169,169	4.2	0.7	7		201	0,8600		0,0,4300	no	missense,missense	TPK1	NM_001042482.1,NM_022445.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	57/195,57/244	144380018	1,13005	2203	4300	6503	144010951	SO:0001583	missense	27010	exon4			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.169G>A	7.37:g.144380018C>T	ENSP00000353165:p.Glu57Lys		144010951	NM_022445	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	CCDS5888.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.12	3.031891	0.54790	2.27E-4	0.0	ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881	D;D;D	0.82526	-1.62;-1.62;-1.62	6.02	4.21	0.49690	Thiamin pyrophosphokinase, catalytic domain (3);	0.258640	0.44688	D	0.000429	T	0.68054	0.2959	L	0.35487	1.065	0.80722	D	1	B;B	0.28667	0.219;0.173	B;B	0.23275	0.035;0.045	T	0.59343	-0.7472	10	0.06099	T	0.92	-13.4417	8.7148	0.34405	0.0:0.7694:0.1505:0.0801	.	57;57	F5GZG6;Q9H3S4	.;TPK1_HUMAN	K	57	ENSP00000353165:E57K;ENSP00000367339:E57K;ENSP00000448655:E57K	ENSP00000353165:E57K	E	-	1	0	TPK1	144010951	0.785000	0.28726	0.725000	0.30721	0.978000	0.69477	1.162000	0.31786	0.874000	0.35823	0.655000	0.94253	GAA		0.393	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445	
CNTNAP2	26047	broad.mit.edu	37	7	146471468	146471468	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:146471468G>T	ENST00000361727.3	+	2	719	c.203G>T	c.(202-204)aGa>aTa	p.R68I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	68	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R68I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATAAACAAGAGAGGAGGTAAG	0.383										HNSCC(39;0.1)																											p.R68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203T	7						.						59.0	58.0	58.0					7																	146471468		2203	4300	6503	146102401	SO:0001583	missense	26047	exon2			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.203G>T	7.37:g.146471468G>T	ENSP00000354778:p.Arg68Ile		146102401	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447692	0.84101	.	.	ENSG00000174469	ENST00000361727	D	0.98192	-4.78	5.74	5.74	0.90152	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.42821	D	0.000654	D	0.98707	0.9566	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.99814	1.1043	10	0.87932	D	0	.	17.4268	0.87528	0.0:0.0:1.0:0.0	.	68	Q9UHC6	CNTP2_HUMAN	I	68	ENSP00000354778:R68I	ENSP00000354778:R68I	R	+	2	0	CNTNAP2	146102401	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	8.817000	0.91985	2.714000	0.92807	0.650000	0.86243	AGA		0.383	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
CNTNAP2	26047	broad.mit.edu	37	7	146829507	146829507	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:146829507T>C	ENST00000361727.3	+	8	1770	c.1254T>C	c.(1252-1254)aaT>aaC	p.N418N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	418	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		N -> D. {ECO:0000269|PubMed:18179895}.		adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.N418N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGCGGATAATTTGGGCAATG	0.483										HNSCC(39;0.1)																											p.N418N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1254C	7						.						124.0	110.0	115.0					7																	146829507		2203	4300	6503	146460440	SO:0001819	synonymous_variant	26047	exon8			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1254T>C	7.37:g.146829507T>C			146460440	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DGKB	1607	broad.mit.edu	37	7	14775701	14775701	+	Missense_Mutation	SNP	G	G	T	rs367918629		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:14775701G>T	ENST00000403951.2	-	5	706	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	DGKB_ENST00000407950.1_Missense_Mutation_p.P89Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P96Q|DGKB_ENST00000258767.5_Missense_Mutation_p.P96Q|DGKB_ENST00000399322.3_Missense_Mutation_p.P96Q|DGKB_ENST00000444700.2_Missense_Mutation_p.P89Q|DGKB_ENST00000402815.1_Missense_Mutation_p.P96Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	96					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P96Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTTTACCATTGGACTAGAATG	0.348																																					p.P96Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287A	7						.	G	GLN/PRO,GLN/PRO	0,3674		0,0,1837	52.0	52.0	52.0		287,287	5.8	1.0	7		52	1,8181		0,1,4090	no	missense,missense	DGKB	NM_145695.2,NM_004080.2	76,76	0,1,5927	TT,TG,GG		0.0122,0.0,0.0084	benign,benign	96/774,96/805	14775701	1,11855	1837	4091	5928	14742226	SO:0001583	missense	1607	exon4			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.287C>A	7.37:g.14775701G>T	ENSP00000385780:p.Pro96Gln		14742226	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190246	0.58017	0.0	1.22E-4	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.81	5.81	0.92471	.	1.269500	0.05290	N	0.520845	T	0.52322	0.1727	M	0.72118	2.19	0.49915	D	0.999835	B;B;B;B	0.28378	0.209;0.169;0.169;0.142	B;B;B;B	0.32149	0.141;0.059;0.141;0.025	T	0.46638	-0.9177	10	0.15952	T	0.53	.	18.8376	0.92169	0.0:0.0:1.0:0.0	.	96;89;96;96	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Q	96;96;96;96;89;89;96	ENSP00000385780:P96Q;ENSP00000382260:P96Q;ENSP00000258767:P96Q;ENSP00000384909:P96Q;ENSP00000385031:P89Q;ENSP00000388451:P89Q;ENSP00000386066:P96Q	ENSP00000258767:P96Q	P	-	2	0	DGKB	14742226	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	6.113000	0.71553	2.739000	0.93911	0.563000	0.77884	CCA		0.348	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
CNTNAP2	26047	broad.mit.edu	37	7	147675053	147675053	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:147675053C>T	ENST00000361727.3	+	15	2871	c.2355C>T	c.(2353-2355)agC>agT	p.S785S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	785	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S785S(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAATTGAGCGTAGGTCCTC	0.478										HNSCC(39;0.1)																											p.S785S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2355T	7						.						139.0	119.0	126.0					7																	147675053		2203	4300	6503	147305986	SO:0001819	synonymous_variant	26047	exon15			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2355C>T	7.37:g.147675053C>T			147305986	NM_014141	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	CCDS5889.1																																																																																				0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
C7orf33	202865	broad.mit.edu	37	7	148312419	148312419	+	Splice_Site	SNP	G	G	A	rs141656152	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148312419G>A	ENST00000307003.2	+	3	821	c.460G>A	c.(460-462)Gta>Ata	p.V154I		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	154								p.V154I(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CCACATGTAGGTACGTGGGCA	0.418																																					p.V154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	7						.						125.0	120.0	122.0					7																	148312419		2203	4300	6503	147943352	SO:0001630	splice_region_variant	202865	exon3			BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.460-1G>A	7.37:g.148312419G>A			147943352	NM_145304		Missense_Mutation	SNP	ENST00000307003.2	37	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013400	0.07912	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.02	-2.21	0.06973	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.23583	-1.0184	7	.	.	.	.	0.4748	0.00538	0.2528:0.1962:0.3519:0.1991	.	154	Q8WU49	CG033_HUMAN	I	154	.	.	V	+	1	0	C7orf33	147943352	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.812000	0.04496	-0.734000	0.04843	0.655000	0.94253	GTA		0.418	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304	Missense_Mutation
ZNF425	155054	broad.mit.edu	37	7	148801486	148801486	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148801486C>T	ENST00000378061.2	-	4	1609	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	493					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D493N(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCTGCCTGTCGTGGACTCTG	0.627																																					p.D493N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	7						.						50.0	43.0	45.0					7																	148801486		2200	4292	6492	148432419	SO:0001583	missense	155054	exon4			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1477G>A	7.37:g.148801486C>T	ENSP00000367300:p.Asp493Asn		148432419	NM_001001661	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	0.867	-0.733254	0.03135	.	.	ENSG00000204947	ENST00000378061	T	0.14640	2.49	2.74	-1.9	0.07665	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.11892	0.195	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33879	-0.9851	9	0.62326	D	0.03	.	7.0521	0.25079	0.0:0.3014:0.0:0.6986	.	493	Q6IV72	ZN425_HUMAN	N	493	ENSP00000367300:D493N	ENSP00000367300:D493N	D	-	1	0	ZNF425	148432419	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.727000	0.04931	-0.520000	0.06435	-0.140000	0.14226	GAC		0.627	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
ZNF425	155054	broad.mit.edu	37	7	148802653	148802653	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148802653C>T	ENST00000378061.2	-	4	442	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	104					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E104K(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAGTTCCTTCGTCATCTGGA	0.368																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	7						.						71.0	68.0	69.0					7																	148802653		2203	4299	6502	148433586	SO:0001583	missense	155054	exon4			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.310G>A	7.37:g.148802653C>T	ENSP00000367300:p.Glu104Lys		148433586	NM_001001661	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	7.720	0.697039	0.15106	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07021	3.23;5.01	2.45	-0.788	0.10939	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47420	-0.9119	9	0.07813	T	0.8	.	6.4447	0.21869	0.0:0.168:0.5049:0.3271	.	104	Q6IV72	ZN425_HUMAN	K	104;126	ENSP00000367300:E104K;ENSP00000420379:E126K	ENSP00000367300:E104K	E	-	1	0	ZNF425	148433586	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.042000	0.12063	-0.387000	0.07809	-2.406000	0.00223	GAA		0.368	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
ZNF398	57541	broad.mit.edu	37	7	148876724	148876724	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148876724G>A	ENST00000475153.1	+	6	2027	c.1760G>A	c.(1759-1761)cGt>cAt	p.R587H	ZNF398_ENST00000426851.2_Missense_Mutation_p.R416H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R592H|ZNF398_ENST00000483892.1_Missense_Mutation_p.R416H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R416H|ZNF398_ENST00000491174.1_Missense_Mutation_p.R416H|ZNF398_ENST00000420008.2_Missense_Mutation_p.R416H			Q8TD17	ZN398_HUMAN	zinc finger protein 398	587					positive regulation of transcription, DNA-templated (GO:0045893)|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.R587H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GACCACCTCCGTTCAGGCCAC	0.592																																					p.R416H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1247A	7						.						63.0	66.0	65.0					7																	148876724		2203	4300	6503	148507657	SO:0001583	missense	57541	exon7			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1760G>A	7.37:g.148876724G>A	ENSP00000420418:p.Arg587His		148507657	NM_020781	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888810	0.72524	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000124	T	0.26159	0.0638	L	0.48174	1.505	0.36725	D	0.881398	P;D	0.89917	0.627;1.0	B;D	0.72338	0.065;0.977	T	0.05733	-1.0867	10	0.87932	D	0	-22.5846	14.3573	0.66745	0.0:0.0:1.0:0.0	.	592;587	B4DXA9;Q8TD17	.;ZN398_HUMAN	H	416;416;587;416;416;592;416	ENSP00000389972:R416H;ENSP00000416751:R416H;ENSP00000420418:R587H;ENSP00000418564:R416H;ENSP00000419391:R416H;ENSP00000439340:R592H;ENSP00000338984:R416H	ENSP00000338984:R416H	R	+	2	0	ZNF398	148507657	0.166000	0.22962	0.884000	0.34674	0.970000	0.65996	1.607000	0.36836	2.454000	0.82982	0.650000	0.86243	CGT		0.592	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2		
ZNF282	8427	broad.mit.edu	37	7	148903889	148903889	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148903889G>T	ENST00000262085.3	+	3	792	c.687G>T	c.(685-687)gaG>gaT	p.E229D	ZNF282_ENST00000479907.1_Missense_Mutation_p.E229D	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	229	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E229D(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TTGTTAAGGAGAACTACAAAA	0.463																																					p.E229D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G687T	7						.						201.0	172.0	182.0					7																	148903889		2203	4300	6503	148534822	SO:0001583	missense	8427	exon3			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.687G>T	7.37:g.148903889G>T	ENSP00000262085:p.Glu229Asp		148534822	NM_003575	B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727790	0.48833	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.03920	3.76;3.76	5.69	2.75	0.32379	Krueppel-associated box (4);	0.000000	0.50627	D	0.000112	T	0.06371	0.0164	L	0.49513	1.565	0.32935	D	0.517693	P;P;P;P	0.42961	0.65;0.795;0.795;0.656	P;B;B;B	0.45099	0.469;0.396;0.396;0.396	T	0.23190	-1.0195	10	0.14252	T	0.57	-21.0492	9.27	0.37666	0.0768:0.2734:0.6498:0.0	.	229;180;201;229	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	D	144;229;229	ENSP00000262085:E229D;ENSP00000418840:E229D	ENSP00000262085:E229D	E	+	3	2	ZNF282	148534822	0.993000	0.37304	1.000000	0.80357	0.963000	0.63663	0.481000	0.22260	0.727000	0.32360	0.655000	0.94253	GAG		0.463	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575	
ZNF212	7988	broad.mit.edu	37	7	148947257	148947257	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148947257G>A	ENST00000335870.2	+	2	160	c.32G>A	c.(31-33)aGa>aAa	p.R11K		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.R11K(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGCACAGGAGAAAACGACGC	0.433																																					p.R11K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G32A	7						.						65.0	67.0	67.0					7																	148947257		2203	4300	6503	148578190	SO:0001583	missense	7988	exon2			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.32G>A	7.37:g.148947257G>A	ENSP00000338572:p.Arg11Lys		148578190	NM_012256	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306260	0.23736	.	.	ENSG00000170260	ENST00000335870	T	0.06371	3.31	5.45	4.57	0.56435	.	0.472529	0.19855	N	0.104554	T	0.03651	0.0104	L	0.27053	0.805	0.23192	N	0.998142	P	0.37466	0.596	B	0.29785	0.107	T	0.29366	-1.0014	10	0.06365	T	0.9	-12.6355	10.4696	0.44629	0.0899:0.0:0.9101:0.0	.	11	Q9UDV6	ZN212_HUMAN	K	11	ENSP00000338572:R11K	ENSP00000338572:R11K	R	+	2	0	ZNF212	148578190	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.085000	0.50151	1.331000	0.45412	-0.217000	0.12591	AGA		0.433	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	
ZNF212	7988	broad.mit.edu	37	7	148947581	148947581	+	Missense_Mutation	SNP	G	G	A	rs553396170		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148947581G>A	ENST00000335870.2	+	2	484	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.R119H(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AACCTGCTGCGCAACAGGAAC	0.617																																					p.R119H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	7						.						67.0	85.0	79.0					7																	148947581		2203	4300	6503	148578514	SO:0001583	missense	7988	exon2			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.356G>A	7.37:g.148947581G>A	ENSP00000338572:p.Arg119His		148578514	NM_012256	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139468	0.77775	.	.	ENSG00000170260	ENST00000335870	T	0.12361	2.69	5.95	5.95	0.96441	.	0.000000	0.48767	D	0.000180	T	0.21674	0.0522	M	0.61703	1.905	0.27543	N	0.950727	P	0.48350	0.909	P	0.44897	0.463	T	0.09684	-1.0663	10	0.72032	D	0.01	-23.0334	15.879	0.79189	0.0:0.0:1.0:0.0	.	119	Q9UDV6	ZN212_HUMAN	H	119	ENSP00000338572:R119H	ENSP00000338572:R119H	R	+	2	0	ZNF212	148578514	0.082000	0.21442	0.930000	0.37139	0.996000	0.88848	1.774000	0.38573	2.826000	0.97356	0.563000	0.77884	CGC		0.617	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256	
ZNF783	100289678	broad.mit.edu	37	7	148963815	148963815	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:148963815C>T	ENST00000434415.1	+	2	577	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A138A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGGGGGAGGCCCCCAAGGTAG	0.652																																					p.A138A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	7						.						75.0	90.0	85.0					7																	148963815		2203	4299	6502	148594748	SO:0001819	synonymous_variant	155060	exon2			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.414C>T	7.37:g.148963815C>T			148594748	NM_001195220	C9J9J2	Silent	SNP	ENST00000434415.1	37	CCDS56519.1																																																																																				0.652	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	
ZNF467	168544	broad.mit.edu	37	7	149467551	149467551	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:149467551C>A	ENST00000302017.3	-	3	542	c.129G>T	c.(127-129)gaG>gaT	p.E43D	ZNF467_ENST00000484747.1_Missense_Mutation_p.E43D	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	43					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.E43D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGTGCTCTCTCTTCCCTAG	0.582																																					p.E43D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	7						.						69.0	69.0	69.0					7																	149467551		2203	4300	6503	149098484	SO:0001583	missense	168544	exon3			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.129G>T	7.37:g.149467551C>A	ENSP00000304769:p.Glu43Asp		149098484	NM_207336		Missense_Mutation	SNP	ENST00000302017.3	37	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	c	8.524	0.869513	0.17322	.	.	ENSG00000181444	ENST00000484747;ENST00000302017	T	0.08282	3.11	4.38	-1.87	0.07737	.	.	.	.	.	T	0.03220	0.0094	N	0.04880	-0.145	0.09310	N	1	B;B	0.17667	0.001;0.023	B;B	0.15484	0.001;0.013	T	0.48043	-0.9069	9	0.15066	T	0.55	-4.5603	6.3068	0.21143	0.0:0.2132:0.5385:0.2483	.	43;43	Q7Z7K2;C9JAX3	ZN467_HUMAN;.	D	43	ENSP00000304769:E43D	ENSP00000304769:E43D	E	-	3	2	ZNF467	149098484	0.000000	0.05858	0.005000	0.12908	0.490000	0.33462	-0.926000	0.03988	-0.230000	0.09840	0.651000	0.88453	GAG		0.582	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336	
SSPO	23145	broad.mit.edu	37	7	149502521	149502521	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:149502521G>T	ENST00000378016.2	+	0	8334							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACGCCCTGGACTTCCTGGT	0.662																																					p.D2780Y												.	.	0			c.G8338T	7						.						44.0	50.0	48.0					7																	149502521		1954	4142	6096	149133454			23145	exon55			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502521G>T			149133454	NM_198455	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
ZNF862	643641	broad.mit.edu	37	7	149557786	149557786	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:149557786G>T	ENST00000223210.4	+	7	1782	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V513L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCTTTTAAAGTGGAGACTTT	0.473																																					p.V513L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537T	7						.						66.0	71.0	69.0					7																	149557786		1975	4141	6116	149188719	SO:0001583	missense	643641	exon7			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1537G>T	7.37:g.149557786G>T	ENSP00000223210:p.Val513Leu		149188719	NM_001099220	A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359506	0.61403	.	.	ENSG00000106479	ENST00000223210	T	0.01034	5.42	5.19	5.19	0.71726	Zinc finger, TTF-type (1);	0.000000	0.47093	D	0.000241	T	0.03827	0.0108	L	0.60845	1.875	0.29217	N	0.87417	D	0.64830	0.994	D	0.72625	0.978	T	0.33574	-0.9863	10	0.30854	T	0.27	-30.6054	14.2328	0.65906	0.0:0.0:1.0:0.0	.	513	O60290	ZN862_HUMAN	L	513	ENSP00000223210:V513L	ENSP00000223210:V513L	V	+	1	0	ZNF862	149188719	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.800000	0.55537	2.431000	0.82371	0.655000	0.94253	GTG		0.473	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220	
GIMAP8	155038	broad.mit.edu	37	7	150164277	150164277	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150164277G>A	ENST00000307271.3	+	2	1065	c.491G>A	c.(490-492)cGa>cAa	p.R164Q		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	164	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.R164Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TATGAGGGCCGATACTGCATT	0.443																																					p.R164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	7						.						123.0	116.0	119.0					7																	150164277		2203	4300	6503	149795210	SO:0001583	missense	155038	exon2			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.491G>A	7.37:g.150164277G>A	ENSP00000305107:p.Arg164Gln		149795210	NM_175571		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524339	0.64747	.	.	ENSG00000171115	ENST00000307271	T	0.22134	1.97	4.38	3.5	0.40072	AIG1 (1);	0.411941	0.17950	N	0.156556	T	0.30634	0.0771	M	0.83483	2.645	0.09310	N	1	D	0.58970	0.984	P	0.46172	0.506	T	0.23940	-1.0174	10	0.54805	T	0.06	.	8.11	0.30909	0.1109:0.0:0.8891:0.0	.	164	Q8ND71	GIMA8_HUMAN	Q	164	ENSP00000305107:R164Q	ENSP00000305107:R164Q	R	+	2	0	GIMAP8	149795210	0.254000	0.23992	0.008000	0.14137	0.041000	0.13682	2.654000	0.46699	1.084000	0.41184	0.585000	0.79938	CGA		0.443	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
GIMAP7	168537	broad.mit.edu	37	7	150217169	150217169	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150217169C>A	ENST00000313543.4	+	2	264	c.107C>A	c.(106-108)tCt>tAt	p.S36Y		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	36	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.S36Y(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCTTTGATTCTAGAATTGCT	0.502																																					p.S36Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107A	7						.						64.0	59.0	61.0					7																	150217169		2203	4300	6503	149848102	SO:0001583	missense	168537	exon2			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.107C>A	7.37:g.150217169C>A	ENSP00000315474:p.Ser36Tyr		149848102	NM_153236		Missense_Mutation	SNP	ENST00000313543.4	37	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752299	0.49362	.	.	ENSG00000179144	ENST00000313543	T	0.11712	2.75	5.09	3.2	0.36748	AIG1 (1);	0.073692	0.56097	D	0.000022	T	0.32645	0.0836	H	0.97265	3.97	0.09310	N	1	D	0.61697	0.99	P	0.51324	0.666	T	0.43196	-0.9406	10	0.66056	D	0.02	.	7.2545	0.26168	0.0:0.7389:0.169:0.0921	.	36	Q8NHV1	GIMA7_HUMAN	Y	36	ENSP00000315474:S36Y	ENSP00000315474:S36Y	S	+	2	0	GIMAP7	149848102	0.008000	0.16893	0.142000	0.22268	0.026000	0.11368	1.482000	0.35486	1.391000	0.46566	0.655000	0.94253	TCT		0.502	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236	
GIMAP7	168537	broad.mit.edu	37	7	150217460	150217460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150217460G>A	ENST00000313543.4	+	2	555	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	133	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.R133H(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTTCACTCGCAAAGAAGAG	0.537																																					p.R133H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	7						.						76.0	70.0	72.0					7																	150217460		2203	4300	6503	149848393	SO:0001583	missense	168537	exon2			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.398G>A	7.37:g.150217460G>A	ENSP00000315474:p.Arg133His		149848393	NM_153236		Missense_Mutation	SNP	ENST00000313543.4	37	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403021	0.25291	.	.	ENSG00000179144	ENST00000313543	T	0.61627	0.09	5.09	1.8	0.24995	AIG1 (1);	0.243508	0.33477	N	0.004866	T	0.31796	0.0808	N	0.20328	0.56	0.09310	N	0.999997	B	0.29886	0.26	B	0.22386	0.039	T	0.16778	-1.0391	10	0.11794	T	0.64	.	6.4482	0.21887	0.3691:0.0:0.6309:0.0	.	133	Q8NHV1	GIMA7_HUMAN	H	133	ENSP00000315474:R133H	ENSP00000315474:R133H	R	+	2	0	GIMAP7	149848393	0.002000	0.14202	0.983000	0.44433	0.681000	0.39784	1.138000	0.31491	0.171000	0.19730	-0.150000	0.13652	CGC		0.537	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236	
GIMAP5	55340	broad.mit.edu	37	7	150439899	150439899	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150439899C>A	ENST00000358647.3	+	3	1039	c.672C>A	c.(670-672)ttC>ttA	p.F224L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	224	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.F224L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGACCTCTTCTTGGATGCCC	0.602																																					p.F428L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1284A	7						.						58.0	56.0	56.0					7																	150439899		2203	4300	6503	150070832	SO:0001583	missense	55340	exon6			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.672C>A	7.37:g.150439899C>A	ENSP00000351473:p.Phe224Leu		150070832	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421569	0.43020	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05447	3.44	4.25	4.25	0.50352	AIG1 (1);	0.310848	0.36066	N	0.002813	T	0.14614	0.0353	L	0.60067	1.865	0.09310	N	1	D	0.63046	0.992	P	0.56612	0.802	T	0.04242	-1.0966	10	0.35671	T	0.21	.	12.016	0.53313	0.0:1.0:0.0:0.0	.	224	Q96F15	GIMA5_HUMAN	L	224;260	ENSP00000351473:F224L	ENSP00000351473:F224L	F	+	3	2	GIMAP5	150070832	0.002000	0.14202	0.766000	0.31476	0.008000	0.06430	0.258000	0.18387	2.211000	0.71520	0.650000	0.86243	TTC		0.602	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
TMEM176B	28959	broad.mit.edu	37	7	150491123	150491123	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150491123G>T	ENST00000447204.2	-	3	613	c.241C>A	c.(241-243)Ctt>Att	p.L81I	TMEM176B_ENST00000492607.1_Missense_Mutation_p.L81I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.L81I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.L81I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.L81I|TMEM176B_ENST00000450753.2_Intron	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	81					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L81I(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACACTCCAAGAACACAACTC	0.592																																					p.L81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C241A	7						.						264.0	224.0	238.0					7																	150491123		2203	4300	6503	150122056	SO:0001583	missense	28959	exon3			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.241C>A	7.37:g.150491123G>T	ENSP00000410269:p.Leu81Ile		150122056	NM_001101312	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	g	8.478	0.859156	0.17178	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000528038	T;T;T;T;T	0.03745	3.82;3.82;3.82;3.82;3.82	4.93	2.06	0.26882	.	0.360695	0.22132	N	0.064162	T	0.10078	0.0247	M	0.82056	2.57	0.20307	N	0.999919	D	0.53312	0.959	P	0.53689	0.732	T	0.09250	-1.0683	10	0.72032	D	0.01	-3.5484	4.8405	0.13487	0.1861:0.0:0.6459:0.168	.	81	Q3YBM2	T176B_HUMAN	I	81	ENSP00000419258:L81I;ENSP00000318409:L81I;ENSP00000410269:L81I;ENSP00000413531:L81I;ENSP00000397810:L81I	ENSP00000318409:L81I	L	-	1	0	TMEM176B	150122056	0.004000	0.15560	0.409000	0.26459	0.003000	0.03518	0.124000	0.15728	0.487000	0.27698	-0.339000	0.08088	CTT		0.592	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
AOC1	26	broad.mit.edu	37	7	150553724	150553724	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150553724C>T	ENST00000493429.1	+	4	750	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	AOC1_ENST00000467291.1_Silent_p.L56L|AOC1_ENST00000360937.4_Silent_p.L56L|AOC1_ENST00000416793.2_Silent_p.L56L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	56					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.L56L(1)								Amiloride(DB00594)	GGAGCTGAGGCTGCAGCCCTC	0.562																																					p.L56L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C166T	7						.						115.0	119.0	118.0					7																	150553724		2092	4236	6328	150184657	SO:0001819	synonymous_variant	26	exon2			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.166C>T	7.37:g.150553724C>T			150184657	NM_001091	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	CCDS43679.1																																																																																				0.562	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	
ATG9B	285973	broad.mit.edu	37	7	150720253	150720253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150720253G>A	ENST00000377974.2	-	4	775	c.700C>T	c.(700-702)Cga>Tga	p.R234*	ATG9B_ENST00000605938.1_Nonsense_Mutation_p.R234*|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Nonsense_Mutation_p.R234*			Q674R7	ATG9B_HUMAN	autophagy related 9B	234					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.R234*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCACGCATCGAAGGAGGAAG	0.537																																					p.R234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C700T	7						.						242.0	245.0	244.0					7																	150720253		2044	4198	6242	150351186	SO:0001587	stop_gained	285973	exon4			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.700C>T	7.37:g.150720253G>A	ENSP00000475005:p.Arg234*		150351186	NM_173681	A1A5D3|Q6JRW5|Q8N8I8	Nonsense_Mutation	SNP	ENST00000377974.2	37		.	.	.	.	.	.	.	.	.	.	G	15.24	2.774114	0.49786	.	.	ENSG00000248602	ENST00000377974;ENST00000397266;ENST00000545613	.	.	.	5.42	4.44	0.53790	.	0.107611	0.64402	D	0.000006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-41.8169	11.6032	0.51015	0.0947:0.0:0.9053:0.0	.	.	.	.	X	234	.	ENSP00000444232:R234X	R	-	1	2	AC010973.1	150351186	0.990000	0.36364	0.736000	0.30914	0.938000	0.57974	0.364000	0.20325	1.120000	0.41904	0.655000	0.94253	CGA		0.537	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681	
ABCB8	11194	broad.mit.edu	37	7	150733024	150733024	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150733024G>A	ENST00000297504.6	+	8	1100	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	ABCB8_ENST00000358849.4_Missense_Mutation_p.R328H|ABCB8_ENST00000477719.1_Missense_Mutation_p.R328H|ABCB8_ENST00000477092.1_Missense_Mutation_p.R328H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R328H|ABCB8_ENST00000356058.4_Missense_Mutation_p.R365H|ABCB8_ENST00000542328.1_Missense_Mutation_p.R240H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	345	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R328Q(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CGGACTGTGCGTGCCTTCGCC	0.622																																					p.R328H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G983A	7						.						82.0	66.0	71.0					7																	150733024		2203	4300	6503	150363957	SO:0001583	missense	11194	exon7			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1034G>A	7.37:g.150733024G>A	ENSP00000297504:p.Arg345His		150363957	NM_007188	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	G	16.64	3.178349	0.57692	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-1.64;-1.64;-1.64	5.34	5.34	0.76211	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.115170	0.56097	D	0.000030	D	0.97548	0.9197	M	0.86573	2.825	0.53688	D	0.999977	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.988;0.993;0.996;0.988;0.996;0.996	D	0.97688	1.0177	10	0.72032	D	0.01	1.4811	10.0475	0.42195	0.0917:0.0:0.9083:0.0	.	240;328;345;328;328;365	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;.;ABCB8_HUMAN;.;.;.	H	328;311;345;240;328;365;328;328	ENSP00000351717:R328H;ENSP00000297504:R345H;ENSP00000438776:R240H;ENSP00000418271:R328H;ENSP00000348353:R365H;ENSP00000419891:R328H;ENSP00000419558:R328H	ENSP00000297504:R345H	R	+	2	0	ABCB8	150363957	1.000000	0.71417	0.398000	0.26321	0.180000	0.23129	4.994000	0.63901	2.504000	0.84457	0.561000	0.74099	CGT		0.622	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	
ABCF2	10061	broad.mit.edu	37	7	150916218	150916218	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:150916218G>A	ENST00000287844.2	-	8	1058	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	ABCF2_ENST00000222388.2_Missense_Mutation_p.R317W|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	317	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.R317W(1)|p.R317fs*63(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTCTAGCCGCGTCTTCACG	0.498																																					p.R317W												.	.	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(1)|breast(1)	c.C949T	7						.						192.0	168.0	176.0					7																	150916218		2203	4300	6503	150547151	SO:0001583	missense	10061	exon8			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.949C>T	7.37:g.150916218G>A	ENSP00000287844:p.Arg317Trp		150547151	NM_005692	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153778	0.78114	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.93247	-3.15;-3.19	5.36	5.36	0.76844	ABC transporter-like (1);	0.226040	0.44902	D	0.000411	D	0.98207	0.9407	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.99643	1.0989	10	0.87932	D	0	-2.6723	16.2682	0.82601	0.0:0.0:1.0:0.0	.	317;317	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	W	317	ENSP00000222388:R317W;ENSP00000287844:R317W	ENSP00000222388:R317W	R	-	1	2	ABCF2	150547151	1.000000	0.71417	0.976000	0.42696	0.734000	0.41952	6.698000	0.74608	2.496000	0.84212	0.563000	0.77884	CGG		0.498	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692	
NUB1	51667	broad.mit.edu	37	7	151064178	151064178	+	Silent	SNP	C	C	T	rs373895352		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151064178C>T	ENST00000355851.4	+	9	1031	c.954C>T	c.(952-954)taC>taT	p.Y318Y	NUB1_ENST00000413040.2_Silent_p.Y342Y|NUB1_ENST00000568733.1_Silent_p.Y342Y|NUB1_ENST00000566856.1_Silent_p.Y318Y	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	318					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Y318Y(1)		endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAAATTGTTACGGAGAAAATC	0.378																																					p.Y318Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C954T	7						.						66.0	65.0	65.0					7																	151064178		1841	4090	5931	150695111	SO:0001819	synonymous_variant	51667	exon9			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.954C>T	7.37:g.151064178C>T			150695111	NM_016118	O95422|Q75MR9|Q8IX22|Q9BXR2	Silent	SNP	ENST00000355851.4	37																																																																																					0.378	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118	
WDR86	349136	broad.mit.edu	37	7	151097322	151097322	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151097322C>T	ENST00000334493.6	-	2	599	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.E57K	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	57										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACATAGCTTTCATGTCCTGCA	0.557																																					p.E57K												.	.	0			c.G169A	7						.						37.0	39.0	38.0					7																	151097322		2155	4245	6400	150728255	SO:0001583	missense	349136	exon2			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.169G>A	7.37:g.151097322C>T	ENSP00000335522:p.Glu57Lys		150728255	NM_198285	B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523702	0.27299	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.62364	0.03;0.03	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.65893	0.2735	L	0.33293	1	0.31600	N	0.652817	D;P;P	0.76494	0.999;0.9;0.932	D;P;B	0.81914	0.995;0.472;0.321	T	0.61931	-0.6961	9	0.17369	T	0.5	-16.0588	10.5266	0.44952	0.0:0.9104:0.0:0.0896	.	57;57;15	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	K	57	ENSP00000335522:E57K;ENSP00000419162:E57K	ENSP00000335522:E57K	E	-	1	0	WDR86	150728255	0.993000	0.37304	0.991000	0.47740	0.718000	0.41266	3.139000	0.50577	2.311000	0.77944	0.585000	0.79938	GAA		0.557	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285	
PRKAG2	51422	broad.mit.edu	37	7	151262838	151262838	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151262838C>T	ENST00000287878.4	-	12	1871	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	PRKAG2_ENST00000418337.2_Missense_Mutation_p.R215Q|PRKAG2_ENST00000392801.2_Missense_Mutation_p.R412Q|PRKAG2_ENST00000492843.1_Missense_Mutation_p.R332Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.R331Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	456	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R456Q(3)|p.R331Q(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	AGCTGATATTCGTCTTTCCAC	0.433																																					p.R215Q												.	.	6	Substitution - Missense(6)	endometrium(4)|large_intestine(2)	c.G644A	7						.						237.0	201.0	213.0					7																	151262838		2203	4300	6503	150893771	SO:0001583	missense	51422	exon8			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1367G>A	7.37:g.151262838C>T	ENSP00000287878:p.Arg456Gln		150893771	NM_024429	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140044	0.94560	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.75150	2.29	0.80722	D	1	P;D	0.54207	0.85;0.965	B;P	0.45610	0.281;0.487	D	0.94392	0.7615	10	0.66056	D	0.02	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	331;456	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	Q	215;456;332;331;412	ENSP00000387386:R215Q;ENSP00000287878:R456Q;ENSP00000419577:R332Q;ENSP00000406544:R331Q;ENSP00000376549:R412Q	ENSP00000287878:R456Q	R	-	2	0	PRKAG2	150893771	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	7.538000	0.82048	2.882000	0.98803	0.655000	0.94253	CGA		0.433	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
GALNTL5	168391	broad.mit.edu	37	7	151699925	151699925	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151699925G>T	ENST00000392800.2	+	6	1039	c.785G>T	c.(784-786)aGa>aTa	p.R262I	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.R262I	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	262					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R262I(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTGATGATAGAACTCTGGAG	0.463																																					p.R262I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G785T	7						.						158.0	157.0	157.0					7																	151699925		2203	4300	6503	151330858	SO:0001583	missense	168391	exon6			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.785G>T	7.37:g.151699925G>T	ENSP00000376548:p.Arg262Ile		151330858	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751109	0.31046	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59772	0.24;0.24	4.83	-8.69	0.00855	Glycosyl transferase, family 2 (1);	2.837350	0.00918	N	0.002546	T	0.33847	0.0877	N	0.20574	0.59	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.002;0.003	T	0.15983	-1.0418	10	0.72032	D	0.01	.	0.6247	0.00784	0.2543:0.3124:0.2024:0.2308	.	13;262	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	I	262	ENSP00000392582:R262I;ENSP00000376548:R262I	ENSP00000376548:R262I	R	+	2	0	GALNTL5	151330858	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.746000	0.26275	-1.305000	0.02327	-0.884000	0.02946	AGA		0.463	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	
KMT2C	58508	broad.mit.edu	37	7	151873758	151873758	+	Missense_Mutation	SNP	G	G	A	rs372187941		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151873758G>A	ENST00000262189.6	-	38	8998	c.8780C>T	c.(8779-8781)tCt>tTt	p.S2927F	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2927F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2927					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S2927F(2)									TGAATTATCAGATTTCTCATT	0.463																																					p.S2927F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8780T	7						.						70.0	76.0	74.0					7																	151873758		2203	4300	6503	151504691	SO:0001583	missense	58508	exon38			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8780C>T	7.37:g.151873758G>A	ENSP00000262189:p.Ser2927Phe		151504691	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	7.997	0.754465	0.15778	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85013	-1.93;-1.92	5.24	2.24	0.28232	.	0.517985	0.16095	N	0.229882	T	0.78923	0.4360	L	0.27053	0.805	0.47183	D	0.999347	P;P;B	0.43169	0.8;0.573;0.374	P;B;B	0.45037	0.467;0.256;0.366	T	0.71206	-0.4661	10	0.11182	T	0.66	.	16.1271	0.81402	0.0:0.3893:0.6107:0.0	.	2927;1988;2927	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	F	2927	ENSP00000262189:S2927F;ENSP00000347325:S2927F	ENSP00000262189:S2927F	S	-	2	0	MLL3	151504691	1.000000	0.71417	0.022000	0.16811	0.486000	0.33341	4.936000	0.63506	0.553000	0.29044	0.650000	0.86243	TCT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151874515	151874515	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151874515A>C	ENST00000262189.6	-	38	8241	c.8023T>G	c.(8023-8025)Tta>Gta	p.L2675V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L2675V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2675					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L2675V(2)									GTTATCTGTAAATTATCAGAC	0.433																																					p.L2675V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T8023G	7						.						77.0	76.0	76.0					7																	151874515		2203	4300	6503	151505448	SO:0001583	missense	58508	exon38			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8023T>G	7.37:g.151874515A>C	ENSP00000262189:p.Leu2675Val		151505448	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.559|2.559	-0.302231|-0.302231	0.05495|0.05495	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.83075	.|-1.65;-1.68	5.63|5.63	3.17|3.17	0.36434|0.36434	.|.	.|0.237808	.|0.21743	.|N	.|0.069785	T|T	0.76765|0.76765	0.4033|0.4033	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P;P;B	.|0.42941	.|0.595;0.794;0.186	.|B;B;B	.|0.43052	.|0.123;0.406;0.075	T|T	0.67833|0.67833	-0.5568|-0.5568	5|10	.|0.18710	.|T	.|0.47	.|.	4.3625|4.3625	0.11210|0.11210	0.6154:0.0:0.136:0.2486|0.6154:0.0:0.136:0.2486	.|.	.|2675;1736;2675	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	C|V	180|2675	.|ENSP00000262189:L2675V;ENSP00000347325:L2675V	.|ENSP00000262189:L2675V	F|L	-|-	2|1	0|2	MLL3|MLL3	151505448|151505448	0.036000|0.036000	0.19791|0.19791	0.100000|0.100000	0.21137|0.21137	0.541000|0.541000	0.35023|0.35023	0.452000|0.452000	0.21795|0.21795	0.375000|0.375000	0.24679|0.24679	-0.341000|-0.341000	0.08007|0.08007	TTT|TTA		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151880121	151880121	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151880121G>A	ENST00000262189.6	-	35	5421	c.5203C>T	c.(5203-5205)Ctt>Ttt	p.L1735F	KMT2C_ENST00000355193.2_Missense_Mutation_p.L1735F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1735	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L1735F(2)									TCTTTAAAAAGCTCCGAATCA	0.358																																					p.L1735F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5203T	7						.						231.0	232.0	232.0					7																	151880121		2203	4300	6503	151511054	SO:0001583	missense	58508	exon35			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5203C>T	7.37:g.151880121G>A	ENSP00000262189:p.Leu1735Phe		151511054	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707936	0.48412	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.88586	-2.39;-2.4	4.7	2.79	0.32731	.	0.000000	0.40554	N	0.001077	D	0.91153	0.7214	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.88052	0.2788	10	0.25751	T	0.34	.	13.7154	0.62693	0.0:0.0:0.7186:0.2813	.	1735;796	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	F	1735	ENSP00000262189:L1735F;ENSP00000347325:L1735F	ENSP00000262189:L1735F	L	-	1	0	MLL3	151511054	1.000000	0.71417	0.597000	0.28824	0.714000	0.41099	5.381000	0.66208	0.602000	0.29896	0.563000	0.77884	CTT		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151884543	151884543	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151884543A>C	ENST00000262189.6	-	33	5030	c.4812T>G	c.(4810-4812)ttT>ttG	p.F1604L	KMT2C_ENST00000355193.2_Missense_Mutation_p.F1604L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1604					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F1604L(2)									CCATTGGATTAAAGGCTGAAT	0.348																																					p.F1604L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4812G	7						.						129.0	134.0	132.0					7																	151884543		2203	4300	6503	151515476	SO:0001583	missense	58508	exon33			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4812T>G	7.37:g.151884543A>C	ENSP00000262189:p.Phe1604Leu		151515476	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331292	0.24167	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.89939	-2.56;-2.59	5.62	1.76	0.24704	.	0.000000	0.44688	U	0.000431	D	0.89577	0.6755	M	0.74258	2.255	0.41373	D	0.987501	B;D	0.59767	0.012;0.986	B;P	0.53035	0.006;0.716	D	0.87233	0.2261	10	0.66056	D	0.02	.	5.7455	0.18118	0.5682:0.1353:0.2965:0.0	.	1604;665	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	L	1604	ENSP00000262189:F1604L;ENSP00000347325:F1604L	ENSP00000262189:F1604L	F	-	3	2	MLL3	151515476	1.000000	0.71417	0.117000	0.21633	0.806000	0.45545	1.268000	0.33062	0.506000	0.28125	0.472000	0.43445	TTT		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
AGMO	392636	broad.mit.edu	37	7	15427072	15427072	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:15427072G>T	ENST00000342526.3	-	9	1085	c.916C>A	c.(916-918)Cca>Aca	p.P306T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	306					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P306T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GGTTTACCTGGACCCCATCCC	0.408																																					p.P306T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916A	7						.						122.0	122.0	122.0					7																	15427072		2203	4300	6503	15393597	SO:0001583	missense	392636	exon9				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.916C>A	7.37:g.15427072G>T	ENSP00000341662:p.Pro306Thr		15393597	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535715	0.85812	.	.	ENSG00000187546	ENST00000342526	T	0.36699	1.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.87617	2.895	0.80722	D	1	P	0.52316	0.952	P	0.55615	0.78	T	0.67654	-0.5615	10	0.56958	D	0.05	-8.5947	19.4557	0.94886	0.0:0.0:1.0:0.0	.	306	Q6ZNB7	ALKMO_HUMAN	T	306	ENSP00000341662:P306T	ENSP00000341662:P306T	P	-	1	0	AGMO	15393597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.720000	0.84759	2.599000	0.87857	0.655000	0.94253	CCA		0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
AGMO	392636	broad.mit.edu	37	7	15430525	15430525	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:15430525T>C	ENST00000342526.3	-	7	851	c.682A>G	c.(682-684)Aat>Gat	p.N228D		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	228					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.N228D(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAATAACGATTTCTGCCTATG	0.234																																					p.N228D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A682G	7						.						25.0	26.0	26.0					7																	15430525		2154	4264	6418	15397050	SO:0001583	missense	392636	exon7				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.682A>G	7.37:g.15430525T>C	ENSP00000341662:p.Asn228Asp		15397050	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156719	0.78114	.	.	ENSG00000187546	ENST00000342526	T	0.33654	1.4	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.56769	1.78	0.54753	D	0.999987	D	0.60575	0.988	P	0.56648	0.803	T	0.50906	-0.8772	10	0.49607	T	0.09	-9.958	15.224	0.73336	0.0:0.0:0.0:1.0	.	228	Q6ZNB7	ALKMO_HUMAN	D	228	ENSP00000341662:N228D	ENSP00000341662:N228D	N	-	1	0	AGMO	15397050	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.885000	0.75606	2.055000	0.61198	0.482000	0.46254	AAT		0.234	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
KMT2C	58508	broad.mit.edu	37	7	151945455	151945455	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:151945455G>T	ENST00000262189.6	-	14	2282	c.2064C>A	c.(2062-2064)gtC>gtA	p.V688V	KMT2C_ENST00000355193.2_Silent_p.V688V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	688					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V688V(2)									CAGATTCCATGACTAATTTTG	0.428																																					p.V688V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2064A	7						.						73.0	69.0	70.0					7																	151945455		2203	4300	6503	151576388	SO:0001819	synonymous_variant	58508	exon14			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2064C>A	7.37:g.151945455G>T			151576388	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1																																																																																				0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
HTR5A	3361	broad.mit.edu	37	7	154863040	154863040	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:154863040C>T	ENST00000287907.2	+	1	1007	c.431C>T	c.(430-432)aCg>aTg	p.T144M	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_De_novo_Start_InFrame|HTR5A-AS1_ENST00000543018.1_De_novo_Start_InFrame	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	144					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.T144M(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGGTCCATCACGCGCCACATG	0.637																																					p.T144M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C431T	7						.						89.0	66.0	74.0					7																	154863040		2203	4300	6503	154493973	SO:0001583	missense	3361	exon1				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.431C>T	7.37:g.154863040C>T	ENSP00000287907:p.Thr144Met		154493973	NM_024012	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920092	0.73098	.	.	ENSG00000157219	ENST00000287907	T	0.38401	1.14	4.75	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.097522	0.64402	D	0.000001	T	0.42944	0.1225	M	0.80982	2.52	0.80722	D	1	P	0.47034	0.889	B	0.40940	0.344	T	0.58792	-0.7574	10	0.87932	D	0	.	15.0903	0.72188	0.0:0.8586:0.1414:0.0	.	144	P47898	5HT5A_HUMAN	M	144	ENSP00000287907:T144M	ENSP00000287907:T144M	T	+	2	0	HTR5A	154493973	1.000000	0.71417	0.965000	0.40720	0.835000	0.47333	4.545000	0.60698	2.465000	0.83290	0.655000	0.94253	ACG		0.637	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
HTR5A	3361	broad.mit.edu	37	7	154863232	154863232	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:154863232C>T	ENST00000287907.2	+	1	1199	c.623C>T	c.(622-624)gCc>gTc	p.A208V	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	208					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.A208V(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	ACCGTAGGCGCCTTCTACCTG	0.612																																					p.A208V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623T	7						.						75.0	67.0	70.0					7																	154863232		2203	4300	6503	154494165	SO:0001583	missense	3361	exon1				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.623C>T	7.37:g.154863232C>T	ENSP00000287907:p.Ala208Val		154494165	NM_024012	Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300532	0.95601	.	.	ENSG00000157219	ENST00000287907	T	0.72394	-0.65	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.84939	0.0864	10	0.87932	D	0	.	18.0029	0.89202	0.0:1.0:0.0:0.0	.	208	P47898	5HT5A_HUMAN	V	208	ENSP00000287907:A208V	ENSP00000287907:A208V	A	+	2	0	HTR5A	154494165	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.328000	0.79160	2.489000	0.83994	0.655000	0.94253	GCC		0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
RBM33	155435	broad.mit.edu	37	7	155537703	155537703	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:155537703G>T	ENST00000401878.3	+	14	2584	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	796							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E796*(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGATAGAAGAACAGAAACG	0.463																																					p.E796X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2386T	7						.						26.0	27.0	27.0					7																	155537703		2203	4300	6503	155230464	SO:0001587	stop_gained	155435	exon14			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2386G>T	7.37:g.155537703G>T	ENSP00000384160:p.Glu796*		155230464	NM_053043	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Nonsense_Mutation	SNP	ENST00000401878.3	37	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.861024|8.861024	0.98980|0.98980	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878|ENST00000392761	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	.|T	.|0.77082	.|0.4078	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73990	.|-0.3808	.|4	0.49607|.	T|.	0.09|.	.|.	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	796|567	.|.	ENSP00000384160:E796X|.	E|K	+|+	1|3	0|2	RBM33|RBM33	155230464|155230464	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.990000|0.990000	0.78478|0.78478	9.027000|9.027000	0.93706|0.93706	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.463	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408	
NOM1	64434	broad.mit.edu	37	7	156743316	156743316	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:156743316G>T	ENST00000275820.3	+	1	900	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	295	Glu-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K295N(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		gggaagaaaaggaaaagggag	0.512																																					p.K295N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G885T	7						.						69.0	54.0	59.0					7																	156743316		2173	4251	6424	156436077	SO:0001583	missense	64434	exon1			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.885G>T	7.37:g.156743316G>T	ENSP00000275820:p.Lys295Asn		156436077	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220216	0.22457	.	.	ENSG00000146909	ENST00000275820	T	0.12255	2.7	4.19	-8.37	0.00976	.	3.361950	0.01584	N	0.021255	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.23490	0.086	B	0.20767	0.031	T	0.26710	-1.0095	10	0.16420	T	0.52	-0.2287	3.9116	0.09205	0.2376:0.1925:0.4739:0.0961	.	295	Q5C9Z4	NOM1_HUMAN	N	295	ENSP00000275820:K295N	ENSP00000275820:K295N	K	+	3	2	NOM1	156436077	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.184000	0.03076	-1.475000	0.01876	0.650000	0.86243	AAG		0.512	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
NOM1	64434	broad.mit.edu	37	7	156745276	156745276	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:156745276A>C	ENST00000275820.3	+	2	1111	c.1096A>C	c.(1096-1098)Aaa>Caa	p.K366Q		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	366	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K366Q(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAACATGTAAAAGGTCTACT	0.408																																					p.K366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1096C	7						.						108.0	98.0	101.0					7																	156745276		2203	4300	6503	156438037	SO:0001583	missense	64434	exon2			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1096A>C	7.37:g.156745276A>C	ENSP00000275820:p.Lys366Gln		156438037	NM_138400	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864080	0.32884	.	.	ENSG00000146909	ENST00000275820	T	0.25414	1.8	4.69	0.619	0.17630	MIF4G-like, type 3 (2);Armadillo-type fold (1);	0.282275	0.38837	N	0.001542	T	0.29288	0.0729	L	0.43923	1.385	0.40477	D	0.980407	P	0.46064	0.872	P	0.54706	0.759	T	0.02958	-1.1089	10	0.39692	T	0.17	-15.755	6.7862	0.23675	0.556:0.3002:0.0:0.1438	.	366	Q5C9Z4	NOM1_HUMAN	Q	366	ENSP00000275820:K366Q	ENSP00000275820:K366Q	K	+	1	0	NOM1	156438037	1.000000	0.71417	0.025000	0.17156	0.017000	0.09413	4.970000	0.63742	-0.145000	0.11294	0.456000	0.33151	AAA		0.408	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
UBE3C	9690	broad.mit.edu	37	7	157000177	157000177	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:157000177C>A	ENST00000348165.5	+	12	1864	c.1504C>A	c.(1504-1506)Ctt>Att	p.L502I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	502					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L502I(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACTCTTTTATCTTTTTAGCTC	0.378																																					p.L502I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1504A	7						.						149.0	145.0	146.0					7																	157000177		2203	4300	6503	156692938	SO:0001583	missense	9690	exon12			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1504C>A	7.37:g.157000177C>A	ENSP00000309198:p.Leu502Ile		156692938	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092097	0.76756	.	.	ENSG00000009335	ENST00000348165	T	0.48836	0.8	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.67953	2.075	0.80722	D	1	P;D	0.56968	0.604;0.978	B;P	0.55871	0.209;0.786	T	0.63690	-0.6580	10	0.54805	T	0.06	.	13.9691	0.64228	0.0:0.9262:0.0:0.0738	.	502;502	Q15386;Q15386-2	UBE3C_HUMAN;.	I	502	ENSP00000309198:L502I	ENSP00000309198:L502I	L	+	1	0	UBE3C	156692938	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.520000	0.67080	1.208000	0.43306	0.655000	0.94253	CTT		0.378	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
PTPRN2	5799	broad.mit.edu	37	7	157341694	157341694	+	Silent	SNP	G	G	A	rs370473762		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:157341694G>A	ENST00000389418.4	-	22	2931	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	PTPRN2_ENST00000409483.1_Silent_p.I936I|PTPRN2_ENST00000389413.3_Silent_p.I945I|PTPRN2_ENST00000389416.4_Silent_p.I957I|PTPRN2_ENST00000404321.2_Silent_p.I997I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	974	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I974I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCGCTGCGATATCAATCT	0.532																																					p.I945I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2835T	7						.		,,	0,4406		0,0,2203	146.0	126.0	133.0		2922,2871,2835	3.0	1.0	7		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	974/1016,957/999,945/987	157341694	1,13005	2203	4300	6503	157034455	SO:0001819	synonymous_variant	5799	exon21			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2922C>T	7.37:g.157341694G>A			157034455	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.532	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
PTPRN2	5799	broad.mit.edu	37	7	157926383	157926383	+	Silent	SNP	G	G	A	rs201964824	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:157926383G>A	ENST00000389418.4	-	9	1551	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PTPRN2_ENST00000409483.1_Silent_p.I476I|PTPRN2_ENST00000389413.3_Silent_p.I514I|PTPRN2_ENST00000389416.4_Silent_p.I497I|PTPRN2_ENST00000404321.2_Silent_p.I537I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	514					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I514I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGTCTGTCACGATGTAGCCCC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15886	0.002		0.0	False		,,,				2504	0.0				p.I514I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1542T	7						.						59.0	63.0	62.0					7																	157926383		2202	4300	6502	157619144	SO:0001819	synonymous_variant	5799	exon9			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1542C>T	7.37:g.157926383G>A			157619144	NM_130843	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	ENST00000389418.4	37	CCDS5947.1																																																																																				0.657	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
SNX8	29886	broad.mit.edu	37	7	2289561	2289561	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:2289561C>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000343985.4_Silent_p.F97F|NUDT1_ENST00000397048.1_Silent_p.F97F|NUDT1_ENST00000356714.1_Silent_p.F74F|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Silent_p.F74F|NUDT1_ENST00000397046.1_Silent_p.F74F|NUDT1_ENST00000397049.1_Silent_p.F97F	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.F97F(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGTTTGAGTTCGTGGGCGAGC	0.657																																					p.F97F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	7						.						261.0	195.0	217.0					7																	2289561		2203	4300	6503	2256087	SO:0001628	intergenic_variant	4521	exon4			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2289561C>T			2256087	NM_198949	A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																				0.657	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2		
EIF3B	8662	broad.mit.edu	37	7	2411432	2411432	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:2411432A>C	ENST00000360876.4	+	11	1691	c.1635A>C	c.(1633-1635)gaA>gaC	p.E545D	EIF3B_ENST00000397011.2_Missense_Mutation_p.E545D	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.E545D(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CAAATTTTGAAATTTTCCGAA	0.413																																					p.E545D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1635C	7						.						111.0	109.0	110.0					7																	2411432		2203	4300	6503	2377958	SO:0001583	missense	8662	exon11			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1635A>C	7.37:g.2411432A>C	ENSP00000354125:p.Glu545Asp		2377958	NM_003751		Missense_Mutation	SNP	ENST00000360876.4	37	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320654	0.81469	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05513	3.43;3.43	5.62	3.05	0.35203	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	M	0.84511	2.7	0.48288	D	0.999628	D	0.56746	0.977	D	0.64687	0.928	T	0.00249	-1.1879	10	0.72032	D	0.01	-38.8577	7.6369	0.28272	0.7301:0.0:0.2699:0.0	.	545	P55884	EIF3B_HUMAN	D	545;545;545;469	ENSP00000354125:E545D;ENSP00000380206:E545D	ENSP00000316638:E545D	E	+	3	2	EIF3B	2377958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.482000	0.45224	0.325000	0.23359	0.533000	0.62120	GAA		0.413	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1		
CHST12	55501	broad.mit.edu	37	7	2473318	2473318	+	Silent	SNP	C	C	T	rs148612060		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:2473318C>T	ENST00000258711.6	+	2	1179	c.1044C>T	c.(1042-1044)gaC>gaT	p.D348D		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	348					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)	p.D348D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGACGAGGACGCCGCGCAGC	0.672																																					p.D348D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	7						.						39.0	40.0	39.0					7																	2473318		2203	4300	6503	2439844	SO:0001819	synonymous_variant	55501	exon2			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1044C>T	7.37:g.2473318C>T			2439844	NM_018641	A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	CCDS5333.1																																																																																				0.672	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641	
SDK1	221935	broad.mit.edu	37	7	4002368	4002368	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4002368C>T	ENST00000404826.2	+	9	1453	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	SDK1_ENST00000389531.3_Silent_p.L438L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	438	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L438L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAAGTGCTCGCCAGCGGAG	0.582																																					p.L438L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1314T	7						.						48.0	44.0	45.0					7																	4002368		2203	4300	6503	3968894	SO:0001819	synonymous_variant	221935	exon9			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1314C>T	7.37:g.4002368C>T			3968894	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SDK1	221935	broad.mit.edu	37	7	4006968	4006968	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4006968C>T	ENST00000404826.2	+	10	1587	c.1448C>T	c.(1447-1449)aCc>aTc	p.T483I	SDK1_ENST00000389531.3_Missense_Mutation_p.T483I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	483	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T483I(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGTGTTCACCCAGCGGCCA	0.552																																					p.T483I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448T	7						.						100.0	99.0	99.0					7																	4006968		2203	4300	6503	3973494	SO:0001583	missense	221935	exon10			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1448C>T	7.37:g.4006968C>T	ENSP00000385899:p.Thr483Ile		3973494	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	7.216	0.596475	0.13875	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.68624	-0.34;-0.34	5.65	2.89	0.33648	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.508988	0.18332	N	0.144456	T	0.43188	0.1236	N	0.10685	0.025	0.30814	N	0.738517	B	0.14438	0.01	B	0.17979	0.02	T	0.35574	-0.9783	10	0.22706	T	0.39	.	9.9246	0.41485	0.0:0.7161:0.0:0.2839	.	483	Q7Z5N4	SDK1_HUMAN	I	483	ENSP00000385899:T483I;ENSP00000374182:T483I	ENSP00000374182:T483I	T	+	2	0	SDK1	3973494	0.991000	0.36638	0.023000	0.16930	0.468000	0.32798	2.899000	0.48679	0.336000	0.23639	0.655000	0.94253	ACC		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SDK1	221935	broad.mit.edu	37	7	4152939	4152939	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4152939G>T	ENST00000404826.2	+	24	3592	c.3453G>T	c.(3451-3453)gtG>gtT	p.V1151V	SDK1_ENST00000389531.3_Silent_p.V1151V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1151	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1151V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAAGCAAGTGAACATTGTTG	0.537																																					p.V1151V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3453T	7						.						197.0	207.0	203.0					7																	4152939		2203	4300	6503	4119465	SO:0001819	synonymous_variant	221935	exon24			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3453G>T	7.37:g.4152939G>T			4119465	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SDK1	221935	broad.mit.edu	37	7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4169639G>A	ENST00000404826.2	+	27	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1347M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1347	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1347M(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657																																					p.V1347M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4039A	7						.						55.0	52.0	53.0					7																	4169639		2203	4300	6503	4136165	SO:0001583	missense	221935	exon27			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4039G>A	7.37:g.4169639G>A	ENSP00000385899:p.Val1347Met		4136165	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617835	0.87359	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56941	0.43;0.43	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.172787	0.39687	N	0.001286	T	0.66187	0.2764	L	0.39147	1.195	0.40805	D	0.983372	D;D	0.89917	0.973;1.0	P;D	0.67548	0.476;0.952	T	0.67546	-0.5643	10	0.66056	D	0.02	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	1347;1347	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1347	ENSP00000385899:V1347M;ENSP00000374182:V1347M	ENSP00000374182:V1347M	V	+	1	0	SDK1	4136165	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.197000	0.77814	2.722000	0.93159	0.655000	0.94253	GTG		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
FOXK1	221937	broad.mit.edu	37	7	4780517	4780517	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4780517G>A	ENST00000328914.4	+	2	609	c.609G>A	c.(607-609)tcG>tcA	p.S203S	FOXK1_ENST00000446823.1_Silent_p.S40S	NM_001037165.1	NP_001032242.1			forkhead box K1									p.S203S(1)|p.S29S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGTTCACGTCGCTCTATCACA	0.612																																					p.S203S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G609A	7						.						173.0	176.0	175.0					7																	4780517		2203	4300	6503	4747043	SO:0001819	synonymous_variant	221937	exon2			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.609G>A	7.37:g.4780517G>A			4747043	NM_001037165		Silent	SNP	ENST00000328914.4	37	CCDS34591.1																																																																																				0.612	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
RADIL	55698	broad.mit.edu	37	7	4871799	4871799	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4871799T>G	ENST00000399583.3	-	5	1614	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	RADIL_ENST00000538469.1_Missense_Mutation_p.K236T|RADIL_ENST00000536091.1_Missense_Mutation_p.K476T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	476					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.K476T(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGCTAGTTCTTTGGTTTTCTC	0.527																																					p.K476T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1427C	7						.						89.0	97.0	94.0					7																	4871799		1999	4194	6193	4838325	SO:0001583	missense	55698	exon5			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1427A>C	7.37:g.4871799T>G	ENSP00000382492:p.Lys476Thr		4838325	NM_018059	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491741	0.64074	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.42513	0.97;1.19;0.97	5.15	3.97	0.46021	.	0.132615	0.49916	D	0.000135	T	0.49830	0.1580	M	0.64630	1.985	0.31880	N	0.618528	D	0.63880	0.993	P	0.55455	0.776	T	0.58239	-0.7671	10	0.41790	T	0.15	-7.535	7.948	0.29998	0.0:0.0954:0.0:0.9046	.	476	Q96JH8	RADIL_HUMAN	T	476;447;210;476;236	ENSP00000382492:K476T;ENSP00000442533:K476T;ENSP00000442966:K236T	ENSP00000320946:K447T	K	-	2	0	RADIL	4838325	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	2.404000	0.44539	0.782000	0.33613	0.454000	0.30748	AAA		0.527	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
PAPOLB	56903	broad.mit.edu	37	7	4899668	4899668	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4899668C>T	ENST00000404991.1	-	1	1957	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	591					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E591K(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GGAATACTTTCGTTTAATGCA	0.458																																					p.E592K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1774A	7						.						95.0	98.0	97.0					7																	4899668		2123	4267	6390	4866194	SO:0001583	missense	56903	exon1			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.1771G>A	7.37:g.4899668C>T	ENSP00000384700:p.Glu591Lys		4866194	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	C	2.179	-0.388133	0.04932	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.48	3.6	0.41247	.	.	.	.	.	T	0.25382	0.0617	L	0.34521	1.04	0.21579	N	0.999632	D	0.55385	0.971	B	0.41174	0.349	T	0.04413	-1.0953	8	0.15952	T	0.53	.	10.8626	0.46835	0.0:0.9071:0.0:0.0929	.	592	A4D1Z6	.	K	591	.	ENSP00000384700:E591K	E	-	1	0	PAPOLB	4866194	0.998000	0.40836	0.024000	0.17045	0.027000	0.11550	5.030000	0.64128	1.491000	0.48482	0.591000	0.81541	GAA		0.458	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
PAPOLB	56903	broad.mit.edu	37	7	4901283	4901283	+	Silent	SNP	G	G	A	rs368004972		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:4901283G>A	ENST00000404991.1	-	1	342	c.156C>T	c.(154-156)ttC>ttT	p.F52F	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	52					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.F52F(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTTCCTCTTCGAAGACCCCGA	0.502																																					p.F53F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159T	7						.						26.0	26.0	26.0					7																	4901283		1912	4150	6062	4867809	SO:0001819	synonymous_variant	56903	exon1			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.156C>T	7.37:g.4901283G>A			4867809	NM_020144	Q75LH1|Q8NE14	Silent	SNP	ENST00000404991.1	37																																																																																					0.502	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
TNRC18	84629	broad.mit.edu	37	7	5396890	5396890	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:5396890C>A	ENST00000430969.1	-	16	5199	c.4851G>T	c.(4849-4851)aaG>aaT	p.K1617N	TNRC18_ENST00000399537.4_Missense_Mutation_p.K1617N	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1617							chromatin binding (GO:0003682)	p.K1617N(2)|p.K672N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGCCATCTTCTTCTTCTTAA	0.512																																					p.K1617N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G4851T	7						.						41.0	42.0	42.0					7																	5396890		1994	4176	6170	5363416	SO:0001583	missense	84629	exon16			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4851G>T	7.37:g.5396890C>A	ENSP00000395538:p.Lys1617Asn		5363416	NM_001080495	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	14.81	2.645245	0.47258	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.51071	2.5;2.49;0.72	5.25	4.36	0.52297	.	0.000000	0.41500	D	0.000862	T	0.62319	0.2418	M	0.65498	2.005	0.33686	D	0.612705	D	0.89917	1.0	D	0.69307	0.963	T	0.73279	-0.4033	10	0.62326	D	0.03	.	9.3801	0.38309	0.0:0.8353:0.0:0.1647	.	1617	O15417	TNC18_HUMAN	N	1617;1617;672;107	ENSP00000382452:K1617N;ENSP00000395538:K1617N;ENSP00000395990:K107N	ENSP00000382452:K1617N	K	-	3	2	TNRC18	5363416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.913000	0.28611	1.186000	0.42985	0.561000	0.74099	AAG		0.512	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
RNF216	54476	broad.mit.edu	37	7	5778927	5778927	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:5778927C>A	ENST00000425013.2	-	5	1154	c.930G>T	c.(928-930)aaG>aaT	p.K310N	RNF216_ENST00000389902.3_Missense_Mutation_p.K367N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	310					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K367N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CATAATAATTCTTAAAATGAA	0.274																																					p.K310N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G930T	7						.						46.0	50.0	49.0					7																	5778927		2200	4295	6495	5745453	SO:0001583	missense	54476	exon5			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.930G>T	7.37:g.5778927C>A	ENSP00000404602:p.Lys310Asn		5745453	NM_207116	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390116	0.61956	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.48836	0.85;0.8	5.96	3.8	0.43715	.	0.215843	0.39834	N	0.001253	T	0.59362	0.2188	L	0.58101	1.795	0.34773	D	0.733967	P;D	0.76494	0.48;0.999	B;D	0.71414	0.203;0.973	T	0.67126	-0.5749	10	0.49607	T	0.09	-17.5886	8.0634	0.30646	0.0:0.7177:0.0:0.2823	.	310;367	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	N	310;367;122	ENSP00000404602:K310N;ENSP00000374552:K367N	ENSP00000374552:K367N	K	-	3	2	RNF216	5745453	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.731000	0.26058	0.619000	0.30197	-0.142000	0.14014	AAG		0.274	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111	
DAGLB	221955	broad.mit.edu	37	7	6449620	6449620	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6449620C>T	ENST00000297056.6	-	15	2036	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	DAGLB_ENST00000425398.2_Missense_Mutation_p.E494K|DAGLB_ENST00000436575.1_Missense_Mutation_p.E582K	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	623					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E623K(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AATTCCGCTTCGTGTGACCAC	0.592																																					p.E623K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1867A	7						.						109.0	108.0	108.0					7																	6449620		2203	4300	6503	6416145	SO:0001583	missense	221955	exon15			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1867G>A	7.37:g.6449620C>T	ENSP00000297056:p.Glu623Lys		6416145	NM_139179	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	33	5.285609	0.95517	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.44083	0.94;0.93;0.94	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.71656	0.918;0.963;0.92;0.974	T	0.59369	-0.7467	10	0.15066	T	0.55	-32.3817	19.4545	0.94882	0.0:1.0:0.0:0.0	.	494;437;623;320	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	K	623;494;582	ENSP00000297056:E623K;ENSP00000391171:E494K;ENSP00000404785:E582K	ENSP00000297056:E623K	E	-	1	0	DAGLB	6416145	1.000000	0.71417	0.138000	0.22173	0.992000	0.81027	5.574000	0.67424	2.590000	0.87494	0.650000	0.86243	GAA		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179	
KDELR2	11014	broad.mit.edu	37	7	6513837	6513837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6513837G>T	ENST00000258739.4	-	2	354	c.170C>A	c.(169-171)tCa>tAa	p.S57*	KDELR2_ENST00000490996.1_Nonsense_Mutation_p.S57*|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	57					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GTTATACAATGAAATAAATGA	0.388																																					p.S57X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C170A	7						.						95.0	93.0	94.0					7																	6513837		2203	4300	6503	6480362	SO:0001587	stop_gained	11014	exon2			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.170C>A	7.37:g.6513837G>T	ENSP00000258739:p.Ser57*		6480362	NM_006854	A4D2P4|Q6IPC5|Q96E30	Nonsense_Mutation	SNP	ENST00000258739.4	37	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998682	0.93227	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4036	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000258739:S57X	S	-	2	0	KDELR2	6480362	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.756000	0.98918	2.824000	0.97209	0.655000	0.94253	TCA		0.388	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2		
ZDHHC4	55146	broad.mit.edu	37	7	6621309	6621309	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6621309G>A	ENST00000396706.2	+	4	632	c.189G>A	c.(187-189)acG>acA	p.T63T	ZDHHC4_ENST00000396709.1_Silent_p.T63T|ZDHHC4_ENST00000405731.3_Silent_p.T63T|ZDHHC4_ENST00000396707.2_Silent_p.T63T|ZDHHC4_ENST00000335965.6_Silent_p.T63T|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Silent_p.T63T			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	63						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.T63T(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TTTTCCATACGAGGTATTTCT	0.373																																					p.T63T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.G189A	7						.						124.0	121.0	122.0					7																	6621309		2203	4300	6503	6587834	SO:0001819	synonymous_variant	55146	exon4			AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.189G>A	7.37:g.6621309G>A			6587834	NM_018106	A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP	ENST00000396706.2	37	CCDS5352.1																																																																																				0.373	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
ZNF12	7559	broad.mit.edu	37	7	6730955	6730955	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6730955G>A	ENST00000405858.1	-	5	2159	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ZNF12_ENST00000404360.1_Missense_Mutation_p.R466W|ZNF12_ENST00000342651.5_Missense_Mutation_p.R502W|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	540					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R540W(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGTATTCTCCGATGTCTACAA	0.388																																					p.R540W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1618T	7						.						51.0	57.0	55.0					7																	6730955		2163	4286	6449	6697480	SO:0001583	missense	7559	exon5			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1618C>T	7.37:g.6730955G>A	ENSP00000385939:p.Arg540Trp		6697480	NM_016265	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478010	0.44044	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.18810	2.19;2.19;2.19	4.0	4.0	0.46444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.232242	0.22419	N	0.060303	T	0.41050	0.1142	M	0.71871	2.18	0.19945	N	0.999941	D;D	0.69078	0.997;0.995	P;P	0.60173	0.87;0.707	T	0.17531	-1.0366	10	0.66056	D	0.02	.	14.4017	0.67050	0.0:0.0:1.0:0.0	.	540;502	P17014;P17014-5	ZNF12_HUMAN;.	W	466;540;502;598	ENSP00000384405:R466W;ENSP00000385939:R540W;ENSP00000344745:R502W	ENSP00000344745:R502W	R	-	1	2	ZNF12	6697480	0.121000	0.22262	0.080000	0.20451	0.894000	0.52154	1.316000	0.33620	2.521000	0.84997	0.655000	0.94253	CGG		0.388	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265	
RSPH10B2	728194	broad.mit.edu	37	7	6797528	6797528	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6797528G>A	ENST00000403107.1	+	2	607	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E74K|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E74K|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E74K|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	74								p.E74K(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CAGCCAATACGAAGAGTCCAT	0.468																																					p.E74K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G220A	7						.						190.0	208.0	202.0					7																	6797528		2165	4267	6432	6764053	SO:0001583	missense	222967	exon3				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.220G>A	7.37:g.6797528G>A	ENSP00000384766:p.Glu74Lys		6764053	NM_173565	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230860	0.58777	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	2.65	2.65	0.31530	.	0.194531	0.33553	N	0.004798	T	0.63248	0.2495	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.61070	0.883	T	0.64183	-0.6467	10	0.41790	T	0.15	.	11.0959	0.48143	0.0:0.0:1.0:0.0	.	74	B2RC85	R10B2_HUMAN	K	74	ENSP00000384766:E74K;ENSP00000386102:E74K;ENSP00000297186:E74K;ENSP00000416710:E74K	ENSP00000297186:E74K	E	+	1	0	RSPH10B2	6764053	1.000000	0.71417	0.949000	0.38748	0.542000	0.35054	4.909000	0.63314	1.494000	0.48533	0.392000	0.25879	GAA		0.468	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697	
CCZ1B	221960	broad.mit.edu	37	7	6851690	6851690	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:6851690G>T	ENST00000316731.8	-	10	1419	c.847C>A	c.(847-849)Ctt>Att	p.L283I	CCZ1B_ENST00000538180.1_Missense_Mutation_p.L140I	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	283						lysosome (GO:0005764)|membrane (GO:0016020)		p.L283I(1)									GGTCCGGTAAGAAATCTTAAA	0.393																																					p.L283I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847A	7						.						27.0	27.0	27.0					7																	6851690		2136	4267	6403	6818215	SO:0001583	missense	221960	exon10			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.847C>A	7.37:g.6851690G>T	ENSP00000314544:p.Leu283Ile		6818215	NM_198097	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.410398	0.01145	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.6	2.6	0.31112	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08617	-1.0713	6	0.07813	T	0.8	-15.0487	10.9885	0.47537	0.0:0.0:1.0:0.0	.	.	.	.	I	283;140	.	ENSP00000314544:L283I	L	-	1	0	C7orf28B	6818215	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.351000	0.59398	1.460000	0.47911	0.184000	0.17185	CTT		0.393	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097	
COL28A1	340267	broad.mit.edu	37	7	7412930	7412930	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:7412930C>A	ENST00000399429.3	-	32	2747	c.2607G>T	c.(2605-2607)caG>caT	p.Q869H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	869	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q869H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCCCAGATACTGCATGTTGT	0.478																																					p.Q869H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2607T	7						.						95.0	91.0	92.0					7																	7412930		2033	4196	6229	7379455	SO:0001583	missense	340267	exon32			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2607G>T	7.37:g.7412930C>A	ENSP00000382356:p.Gln869His		7379455	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908268	0.17833	.	.	ENSG00000215018	ENST00000399429	T	0.78816	-1.21	4.33	3.45	0.39498	von Willebrand factor, type A (3);	0.997979	0.08106	U	0.996938	T	0.74566	0.3733	L	0.39633	1.23	0.33969	D	0.646584	B	0.34241	0.444	P	0.44477	0.451	T	0.73294	-0.4028	10	0.42905	T	0.14	-1.634	4.6654	0.12662	0.1438:0.6091:0.1594:0.0878	.	869	Q2UY09	COSA1_HUMAN	H	869	ENSP00000382356:Q869H	ENSP00000382356:Q869H	Q	-	3	2	COL28A1	7379455	0.180000	0.23148	1.000000	0.80357	0.997000	0.91878	-0.431000	0.06965	1.171000	0.42768	0.655000	0.94253	CAG		0.478	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
COL28A1	340267	broad.mit.edu	37	7	7413101	7413101	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:7413101C>A	ENST00000399429.3	-	32	2576	c.2436G>T	c.(2434-2436)gaG>gaT	p.E812D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	812	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E812D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCTGAAAGTTCTCTGGCCCCA	0.473																																					p.E812D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2436T	7						.						88.0	89.0	89.0					7																	7413101		1870	4105	5975	7379626	SO:0001583	missense	340267	exon32			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2436G>T	7.37:g.7413101C>A	ENSP00000382356:p.Glu812Asp		7379626	NM_001037763	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	5.939	0.357276	0.11239	.	.	ENSG00000215018	ENST00000399429	T	0.77750	-1.12	4.44	0.428	0.16499	von Willebrand factor, type A (3);	1.724680	0.04671	U	0.410691	T	0.65460	0.2693	N	0.25380	0.74	0.25030	N	0.991273	B	0.16396	0.017	B	0.29267	0.1	T	0.48980	-0.8986	10	0.31617	T	0.26	-6.1376	2.726	0.05214	0.1137:0.2905:0.3783:0.2175	.	812	Q2UY09	COSA1_HUMAN	D	812	ENSP00000382356:E812D	ENSP00000382356:E812D	E	-	3	2	COL28A1	7379626	0.000000	0.05858	0.027000	0.17364	0.795000	0.44927	-1.796000	0.01750	-0.036000	0.13669	-0.140000	0.14226	GAG		0.473	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
MIOS	54468	broad.mit.edu	37	7	7613247	7613247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:7613247G>T	ENST00000340080.4	+	4	1562	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	MIOS_ENST00000405785.1_Nonsense_Mutation_p.E381*	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	381						lysosomal membrane (GO:0005765)		p.E381*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TACGGAAGAAGAAAATGATAA	0.398																																					p.E381X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1141T	7						.						77.0	74.0	75.0					7																	7613247		1832	4083	5915	7579772	SO:0001587	stop_gained	54468	exon4				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1141G>T	7.37:g.7613247G>T	ENSP00000339881:p.Glu381*		7579772	NM_019005	B2RTV6|O75216|Q7L551|Q9H092	Nonsense_Mutation	SNP	ENST00000340080.4	37	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	38	7.264776	0.98175	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	.	.	.	5.49	5.49	0.81192	.	0.109397	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-27.987	19.7592	0.96308	0.0:0.0:1.0:0.0	.	.	.	.	X	381	.	ENSP00000339881:E381X	E	+	1	0	MIOS	7579772	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.306000	0.78905	2.736000	0.93811	0.650000	0.86243	GAA		0.398	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005	
GLCCI1	113263	broad.mit.edu	37	7	8043541	8043541	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:8043541A>G	ENST00000223145.5	+	2	1018	c.461A>G	c.(460-462)gAc>gGc	p.D154G	GLCCI1_ENST00000474269.1_3'UTR|RPA3-AS1_ENST00000469183.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	154						cytoplasm (GO:0005737)		p.D154G(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TCTGTAGCGGACAAGGCAAAA	0.373																																					p.D154G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461G	7						.						101.0	95.0	97.0					7																	8043541		2203	4300	6503	8010066	SO:0001583	missense	113263	exon2			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.461A>G	7.37:g.8043541A>G	ENSP00000223145:p.Asp154Gly		8010066	NM_138426	A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844504	0.51164	.	.	ENSG00000106415	ENST00000223145;ENST00000414914;ENST00000430798	.	.	.	4.75	4.75	0.60458	.	0.290368	0.32655	N	0.005805	T	0.61565	0.2357	L	0.34521	1.04	0.51767	D	0.99993	D	0.63880	0.993	P	0.60789	0.879	T	0.57648	-0.7775	9	0.25106	T	0.35	-8.8037	15.0225	0.71640	1.0:0.0:0.0:0.0	.	154	Q86VQ1	GLCI1_HUMAN	G	154;42;42	.	ENSP00000223145:D154G	D	+	2	0	GLCCI1	8010066	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	8.676000	0.91199	2.087000	0.62958	0.456000	0.33151	GAC		0.373	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426	
GLCCI1	113263	broad.mit.edu	37	7	8124633	8124633	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:8124633C>A	ENST00000223145.5	+	7	1841	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	428						cytoplasm (GO:0005737)		p.V428V(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGTGAAGGTCTTTGAGGAAA	0.448																																					p.V428V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284A	7						.						141.0	142.0	141.0					7																	8124633		2203	4300	6503	8091158	SO:0001819	synonymous_variant	113263	exon7			BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1284C>A	7.37:g.8124633C>A			8091158	NM_138426	A4D103|Q96FD0	Silent	SNP	ENST00000223145.5	37	CCDS34601.1																																																																																				0.448	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426	
ISPD	729920	broad.mit.edu	37	7	16348234	16348234	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:16348234C>T	ENST00000407010.2	-	4	702	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	ISPD_ENST00000399310.3_Missense_Mutation_p.E185K	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	235					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)	p.E235K(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GTTCCAAATTCCAAGTCATAG	0.378										Multiple Myeloma(15;0.18)																											p.E185K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G553A	7						.						109.0	105.0	106.0					7																	16348234		1908	4134	6042	16314759	SO:0001583	missense	729920	exon3			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.703G>A	7.37:g.16348234C>T	ENSP00000385478:p.Glu235Lys		16314759	NM_001101417	A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37		.	.	.	.	.	.	.	.	.	.	C	26.0	4.699307	0.88830	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.87103	-2.21;-1.98	5.32	5.32	0.75619	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.213545	0.38436	U	0.001691	D	0.89876	0.6842	L	0.33339	1.005	0.53688	D	0.999973	D	0.60160	0.987	D	0.65573	0.936	D	0.89424	0.3712	10	0.44086	T	0.13	-16.1336	19.358	0.94422	0.0:1.0:0.0:0.0	.	235	A4D126	ISPD_HUMAN	K	235;185	ENSP00000385478:E235K;ENSP00000382249:E185K	ENSP00000382249:E185K	E	-	1	0	ISPD	16314759	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.273000	0.72581	2.661000	0.90470	0.655000	0.94253	GAA		0.378	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426	
BZW2	28969	broad.mit.edu	37	7	16714053	16714053	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:16714053C>T	ENST00000433922.2	+	3	253	c.75C>T	c.(73-75)ttC>ttT	p.F25F	BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000452975.2_Silent_p.F25F|BZW2_ENST00000258761.3_Silent_p.F25F	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	25					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.F25F(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AAGAGAAATTCGAACCCACAG	0.333																																					p.F25F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	7						.						84.0	84.0	84.0					7																	16714053		2203	4300	6503	16680578	SO:0001819	synonymous_variant	28969	exon3			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.75C>T	7.37:g.16714053C>T			16680578	NM_014038	A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	CCDS5362.1																																																																																				0.333	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038	
BZW2	28969	broad.mit.edu	37	7	16745690	16745690	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:16745690G>A	ENST00000433922.2	+	12	1415	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	BZW2_ENST00000405202.1_Missense_Mutation_p.E337K|BZW2_ENST00000407633.1_Missense_Mutation_p.E219K|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000258761.3_Missense_Mutation_p.E413K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	413	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)		p.E413K(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCTAGAATCCGAATCGGAAGG	0.418																																					p.E413K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	7						.						129.0	126.0	127.0					7																	16745690		2203	4300	6503	16712215	SO:0001583	missense	28969	exon12			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1237G>A	7.37:g.16745690G>A	ENSP00000397249:p.Glu413Lys		16712215	NM_014038	A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440280	0.63067	.	.	ENSG00000136261	ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.55	5.55	0.83447	eIF4-gamma/eIF5/eIF2-epsilon (2);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	H	0.94462	3.54	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.95406	0.8494	10	0.66056	D	0.02	-36.6725	19.8667	0.96806	0.0:0.0:1.0:0.0	.	413	Q9Y6E2	BZW2_HUMAN	K	413;413;337;219	ENSP00000258761:E413K;ENSP00000397249:E413K;ENSP00000385577:E337K;ENSP00000384617:E219K	ENSP00000258761:E413K	E	+	1	0	BZW2	16712215	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	6.733000	0.74796	2.773000	0.95371	0.655000	0.94253	GAA		0.418	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2	NM_014038	
AHR	196	broad.mit.edu	37	7	17369639	17369639	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:17369639C>T	ENST00000242057.4	+	5	1157	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	172	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R172C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TGAATTTCAGCGTCAGCTACA	0.373																																					p.R172C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	7						.						86.0	87.0	86.0					7																	17369639		2203	4300	6503	17336164	SO:0001583	missense	196	exon5			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.514C>T	7.37:g.17369639C>T	ENSP00000242057:p.Arg172Cys		17336164	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076620	0.55753	.	.	ENSG00000106546	ENST00000242057	T	0.19394	2.15	5.92	5.03	0.67393	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.41360	-0.9513	10	0.45353	T	0.12	.	16.4323	0.83853	0.1325:0.8675:0.0:0.0	.	172	P35869	AHR_HUMAN	C	172	ENSP00000242057:R172C	ENSP00000242057:R172C	R	+	1	0	AHR	17336164	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.205000	0.72148	1.477000	0.48234	0.655000	0.94253	CGT		0.373	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
AHR	196	broad.mit.edu	37	7	17379658	17379658	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:17379658G>T	ENST00000242057.4	+	10	2852	c.2209G>T	c.(2209-2211)Gat>Tat	p.D737Y		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	737					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D737Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TAGTTTAGAAGATTTTGTCAC	0.423																																					p.D737Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2209T	7						.						113.0	108.0	110.0					7																	17379658		2203	4300	6503	17346183	SO:0001583	missense	196	exon10			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2209G>T	7.37:g.17379658G>T	ENSP00000242057:p.Asp737Tyr		17346183	NM_001621	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284160	0.59867	.	.	ENSG00000106546	ENST00000242057	T	0.56275	0.47	5.25	4.37	0.52481	.	0.399738	0.27886	N	0.017455	T	0.64238	0.2580	M	0.76328	2.33	0.42388	D	0.992517	P	0.44659	0.84	P	0.49502	0.613	T	0.71321	-0.4628	10	0.72032	D	0.01	.	16.1502	0.81611	0.0:0.1334:0.8665:0.0	.	737	P35869	AHR_HUMAN	Y	737	ENSP00000242057:D737Y	ENSP00000242057:D737Y	D	+	1	0	AHR	17346183	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	3.697000	0.54764	1.443000	0.47586	-0.156000	0.13503	GAT		0.423	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621	
SNX13	23161	broad.mit.edu	37	7	17854462	17854462	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:17854462G>A	ENST00000409389.1	-	20	2264	c.2092C>T	c.(2092-2094)Cgc>Tgc	p.R698C	SNX13_ENST00000428135.3_Missense_Mutation_p.R687C|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	698					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R687C(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CTTACCTTGCGAGCAAAATCC	0.388																																					p.R687C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2059T	7						.						85.0	81.0	82.0					7																	17854462		1856	4095	5951	17820987	SO:0001583	missense	23161	exon20			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2092C>T	7.37:g.17854462G>A	ENSP00000386705:p.Arg698Cys		17820987	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.492210	0.84962	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.21734	1.99;2.28	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.964;0.917;0.993	T	0.20806	-1.0264	10	0.52906	T	0.07	-5.9617	14.844	0.70246	0.0:0.0:0.8562:0.1437	.	484;698;687	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	C	698;687;735	ENSP00000386705:R698C;ENSP00000398789:R687C	ENSP00000242044:R735C	R	-	1	0	SNX13	17820987	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.469000	0.80959	2.737000	0.93849	0.563000	0.77884	CGC		0.388	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
SNX13	23161	broad.mit.edu	37	7	17879586	17879586	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:17879586G>T	ENST00000409389.1	-	13	1375	c.1203C>A	c.(1201-1203)ttC>ttA	p.F401L	SNX13_ENST00000428135.3_Missense_Mutation_p.F401L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	401	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.F401L(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCATCCAAAAGAATAGATGTG	0.398																																					p.F401L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1203A	7						.						115.0	103.0	106.0					7																	17879586		1888	4120	6008	17846111	SO:0001583	missense	23161	exon13			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1203C>A	7.37:g.17879586G>T	ENSP00000386705:p.Phe401Leu		17846111	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	17.35	3.366600	0.61513	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.01767	4.65;4.65	5.25	5.25	0.73442	.	0.000000	0.64402	U	0.000001	T	0.03095	0.0091	N	0.20530	0.585	0.80722	D	1	D;B;D	0.62365	0.959;0.444;0.991	P;B;P	0.59424	0.696;0.374;0.857	T	0.68618	-0.5361	10	0.22706	T	0.39	-6.5791	10.4533	0.44535	0.1207:0.0:0.8793:0.0	.	198;401;401	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	L	401;401;449	ENSP00000386705:F401L;ENSP00000398789:F401L	ENSP00000242044:F449L	F	-	3	2	SNX13	17846111	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.857000	0.55972	2.595000	0.87683	0.557000	0.71058	TTC		0.398	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
HDAC9	9734	broad.mit.edu	37	7	18631236	18631236	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:18631236C>T	ENST00000432645.2	+	4	504	c.504C>T	c.(502-504)tcC>tcT	p.S168S	HDAC9_ENST00000417496.2_Silent_p.S210S|HDAC9_ENST00000406072.1_Silent_p.S199S|HDAC9_ENST00000441542.2_Silent_p.S171S|HDAC9_ENST00000405010.3_Silent_p.S168S|HDAC9_ENST00000428307.2_Silent_p.S168S|HDAC9_ENST00000524023.1_Silent_p.S137S|HDAC9_ENST00000401921.1_Silent_p.S171S|HDAC9_ENST00000406451.4_Silent_p.S168S|HDAC9_ENST00000456174.2_Silent_p.S140S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	168					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S171S(2)|p.S168S(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAATCATTCCGTGAGCCGCC	0.463																																					p.S168S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C504T	7						.						84.0	86.0	85.0					7																	18631236		1952	4151	6103	18597761	SO:0001819	synonymous_variant	9734	exon5			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.504C>T	7.37:g.18631236C>T			18597761	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	CCDS47555.1																																																																																				0.463	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
TWISTNB	221830	broad.mit.edu	37	7	19738023	19738023	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:19738023C>A	ENST00000222567.5	-	4	1003	c.933G>T	c.(931-933)aaG>aaT	p.K311N		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	311	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.K311N(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTTTTCTTTTCTTTTTTTTCT	0.383																																					p.K311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G933T	7						.						105.0	118.0	113.0					7																	19738023		2200	4298	6498	19704548	SO:0001583	missense	221830	exon4			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.933G>T	7.37:g.19738023C>A	ENSP00000222567:p.Lys311Asn		19704548	NM_001002926	A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036899	0.75617	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.84	4.96	0.65561	.	0.093402	0.85682	D	0.000000	T	0.66107	0.2756	L	0.60455	1.87	0.49582	D	0.999809	D	0.56035	0.974	P	0.53450	0.726	T	0.70238	-0.4927	9	0.72032	D	0.01	-16.0885	14.7917	0.69846	0.0:0.9309:0.0:0.0691	.	311	Q3B726	RPA43_HUMAN	N	311	.	ENSP00000222567:K311N	K	-	3	2	TWISTNB	19704548	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.915000	0.39976	1.475000	0.48197	0.484000	0.47621	AAG		0.383	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		
TWISTNB	221830	broad.mit.edu	37	7	19744435	19744435	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:19744435A>C	ENST00000222567.5	-	2	433	c.363T>G	c.(361-363)gtT>gtG	p.V121V	MIR3146_ENST00000580367.1_RNA	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	121					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.V121V(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGCAGAAAATAACAAAATCGG	0.353																																					p.V121V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T363G	7						.						75.0	75.0	75.0					7																	19744435		2203	4300	6503	19710960	SO:0001819	synonymous_variant	221830	exon2			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.363T>G	7.37:g.19744435A>C			19710960	NM_001002926	A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	CCDS34606.1																																																																																				0.353	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		
MACC1	346389	broad.mit.edu	37	7	20199715	20199715	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20199715C>A	ENST00000400331.5	-	5	577	c.269G>T	c.(268-270)aGa>aTa	p.R90I	MACC1_ENST00000332878.4_Missense_Mutation_p.R90I|MACC1_ENST00000589011.1_Missense_Mutation_p.R90I	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	90					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R90I(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AATATTATTTCTCTTCCTGTT	0.338																																					p.R90I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269T	7						.						42.0	45.0	44.0					7																	20199715		2203	4300	6503	20166240	SO:0001583	missense	346389	exon5				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.269G>T	7.37:g.20199715C>A	ENSP00000383185:p.Arg90Ile		20166240	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	4.014	-0.000069	0.07819	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10192	2.9;2.9	5.97	-1.17	0.09648	.	0.956548	0.08831	N	0.887326	T	0.12944	0.0314	L	0.57536	1.79	0.24652	N	0.993518	B	0.14438	0.01	B	0.09377	0.004	T	0.34675	-0.9819	10	0.66056	D	0.02	-5.5534	11.8978	0.52665	0.0:0.4423:0.0:0.5577	.	90	Q6ZN28	MACC1_HUMAN	I	90	ENSP00000383185:R90I;ENSP00000328410:R90I	ENSP00000328410:R90I	R	-	2	0	MACC1	20166240	0.290000	0.24343	0.010000	0.14722	0.247000	0.25773	0.479000	0.22228	-0.130000	0.11599	0.585000	0.79938	AGA		0.338	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
ITGB8	3696	broad.mit.edu	37	7	20441524	20441524	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20441524G>T	ENST00000222573.4	+	10	2146	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.D353Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	488	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.D488Y(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AACTTTTCTAGATTCCAAGTG	0.383																																					p.D488Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1462T	7						.						167.0	172.0	170.0					7																	20441524		2203	4300	6503	20408049	SO:0001583	missense	3696	exon10				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1462G>T	7.37:g.20441524G>T	ENSP00000222573:p.Asp488Tyr		20408049	NM_002214	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557262	0.65425	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.90620	-2.7;-2.59	5.66	5.66	0.87406	.	0.070102	0.64402	D	0.000020	D	0.92857	0.7728	L	0.59436	1.845	0.46725	D	0.99917	D	0.56521	0.976	P	0.53185	0.72	D	0.92918	0.6353	10	0.66056	D	0.02	.	20.1156	0.97930	0.0:0.0:1.0:0.0	.	488	P26012	ITB8_HUMAN	Y	353;488	ENSP00000441561:D353Y;ENSP00000222573:D488Y	ENSP00000222573:D488Y	D	+	1	0	ITGB8	20408049	1.000000	0.71417	0.189000	0.23252	0.805000	0.45488	7.964000	0.87933	2.824000	0.97209	0.655000	0.94253	GAT		0.383	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
ABCB5	340273	broad.mit.edu	37	7	20687254	20687254	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20687254T>G	ENST00000404938.2	+	10	1730	c.1078T>G	c.(1078-1080)Ttc>Gtc	p.F360V	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	360					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTTCATATTTTCCAGGTTAT	0.383																																					p.F360V												.	.	0			c.T1078G	7						.						58.0	52.0	54.0					7																	20687254		1564	3581	5145	20653779	SO:0001583	missense	340273	exon10			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1078T>G	7.37:g.20687254T>G	ENSP00000384881:p.Phe360Val		20653779	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477616	0.84640	.	.	ENSG00000004846	ENST00000404938	D	0.82081	-1.57	4.09	4.09	0.47781	.	.	.	.	.	D	0.91888	0.7432	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.93419	0.6775	9	0.87932	D	0	.	12.8739	0.57980	0.0:0.0:0.0:1.0	.	360	A7BKA4	.	V	360	ENSP00000384881:F360V	ENSP00000384881:F360V	F	+	1	0	ABCB5	20653779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.258000	0.78371	2.087000	0.62958	0.533000	0.62120	TTC		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20689690	20689690	+	Missense_Mutation	SNP	G	G	A	rs372984477		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20689690G>A	ENST00000404938.2	+	12	1904	c.1252G>A	c.(1252-1254)Gcc>Acc	p.A418T	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	418	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAGACAGTCGCCTTGGTCGG	0.438																																					p.A418T												.	.	0			c.G1252A	7						.	G	THR/ALA,,,	1,3135		0,1,1567	89.0	78.0	81.0		1252,,,	5.1	1.0	7		81	1,7163		0,1,3581	no	missense,utr-5,utr-5,utr-5	ABCB5	NM_001163941.1,NM_001163942.1,NM_001163993.1,NM_178559.5	58,,,	0,2,5148	AA,AG,GG		0.014,0.0319,0.0194	probably-damaging,,,	418/1258,,,	20689690	2,10298	1568	3582	5150	20656215	SO:0001583	missense	340273	exon12			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1252G>A	7.37:g.20689690G>A	ENSP00000384881:p.Ala418Thr		20656215	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354245	0.95830	3.19E-4	1.4E-4	ENSG00000004846	ENST00000404938	D	0.93859	-3.3	5.14	5.14	0.70334	.	.	.	.	.	D	0.96917	0.8993	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97238	0.9889	9	0.87932	D	0	.	18.4761	0.90793	0.0:0.0:1.0:0.0	.	418	A7BKA4	.	T	418	ENSP00000384881:A418T	ENSP00000384881:A418T	A	+	1	0	ABCB5	20656215	1.000000	0.71417	0.985000	0.45067	0.835000	0.47333	7.758000	0.85224	2.775000	0.95449	0.650000	0.86243	GCC		0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20738058	20738058	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20738058A>C	ENST00000404938.2	+	17	2691	c.2039A>C	c.(2038-2040)aAa>aCa	p.K680T	ABCB5_ENST00000258738.6_Missense_Mutation_p.K235T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	680					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.K235T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTCTATTAAAAATTTTAAAG	0.343																																					p.K235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704C	7						.						54.0	57.0	56.0					7																	20738058		2201	4295	6496	20704583	SO:0001583	missense	340273	exon8			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2039A>C	7.37:g.20738058A>C	ENSP00000384881:p.Lys680Thr		20704583	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810299	0.32053	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.81499	-1.5;-1.5	5.55	4.36	0.52297	ABC transporter, transmembrane domain, type 1 (1);	0.083397	0.47455	N	0.000230	T	0.71273	0.3320	L	0.31476	0.935	0.37196	D	0.90416	B;B	0.24533	0.105;0.052	B;B	0.28784	0.04;0.094	T	0.70572	-0.4835	10	0.51188	T	0.08	.	11.0134	0.47675	0.8436:0.1564:0.0:0.0	.	680;235	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	T	680;235	ENSP00000384881:K680T;ENSP00000258738:K235T	ENSP00000258738:K235T	K	+	2	0	ABCB5	20704583	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	2.457000	0.45005	0.995000	0.38917	0.482000	0.46254	AAA		0.343	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
ABCB5	340273	broad.mit.edu	37	7	20784912	20784912	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:20784912G>T	ENST00000404938.2	+	26	3932	c.3280G>T	c.(3280-3282)Gca>Tca	p.A1094S	ABCB5_ENST00000258738.6_Missense_Mutation_p.A649S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1094	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.A649S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCCCAAATAGCAATCGTTCC	0.458																																					p.A649S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1945T	7						.						149.0	137.0	141.0					7																	20784912		2203	4300	6503	20751437	SO:0001583	missense	340273	exon17			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3280G>T	7.37:g.20784912G>T	ENSP00000384881:p.Ala1094Ser		20751437	NM_178559	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989537	0.53934	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93247	-3.19;-3.19	5.32	4.39	0.52855	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.56097	D	0.000031	D	0.91603	0.7347	L	0.42529	1.33	0.38401	D	0.945654	B;B	0.32781	0.024;0.384	B;B	0.39935	0.042;0.314	D	0.91827	0.5472	10	0.46703	T	0.11	.	15.5679	0.76309	0.0:0.1382:0.8618:0.0	.	1094;649	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	1094;649	ENSP00000384881:A1094S;ENSP00000258738:A649S	ENSP00000258738:A649S	A	+	1	0	ABCB5	20751437	1.000000	0.71417	0.929000	0.37066	0.417000	0.31264	7.778000	0.85637	2.642000	0.89623	0.655000	0.94253	GCA		0.458	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	broad.mit.edu	37	7	21628830	21628830	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21628830T>G	ENST00000409508.3	+	12	2009	c.1978T>G	c.(1978-1980)Ttg>Gtg	p.L660V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L660V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	660	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L660V(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTACAGATTTTTGGGCAATCC	0.279									Kartagener syndrome																												p.L660V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1978G	7						.						77.0	73.0	74.0					7																	21628830		1809	4071	5880	21595355	SO:0001583	missense	8701	exon12	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1978T>G	7.37:g.21628830T>G	ENSP00000475939:p.Leu660Val		21595355	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	1.474	-0.559100	0.03967	.	.	ENSG00000105877	ENST00000328843	T	0.56776	0.44	5.58	0.557	0.17260	Dynein heavy chain, domain-1 (1);	1.409190	0.04988	N	0.466883	T	0.36082	0.0954	.	.	.	0.22412	N	0.999128	B	0.12630	0.006	B	0.14578	0.011	T	0.19614	-1.0300	9	0.41790	T	0.15	.	1.2699	0.02019	0.1354:0.2325:0.1405:0.4917	.	660	Q96DT5	DYH11_HUMAN	V	660	ENSP00000330671:L660V	ENSP00000330671:L660V	L	+	1	2	DNAH11	21595355	0.085000	0.21516	0.130000	0.21974	0.015000	0.08874	-0.056000	0.11787	-0.124000	0.11724	-1.123000	0.02005	TTG		0.279	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21640664	21640664	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21640664A>G	ENST00000409508.3	+	17	3323	c.3292A>G	c.(3292-3294)Aaa>Gaa	p.K1098E	DNAH11_ENST00000328843.6_Missense_Mutation_p.K1098E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1098	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1098E(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAAATGAGCAAATTTGAGGA	0.338									Kartagener syndrome																												p.K1098E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3292G	7						.						125.0	118.0	120.0					7																	21640664		1834	4092	5926	21607189	SO:0001583	missense	8701	exon17	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3292A>G	7.37:g.21640664A>G	ENSP00000475939:p.Lys1098Glu		21607189	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	1.379	-0.584037	0.03827	.	.	ENSG00000105877	ENST00000328843	T	0.21932	1.98	5.43	5.43	0.79202	.	0.441505	0.24783	N	0.035633	T	0.08582	0.0213	.	.	.	0.32825	D	0.503266	B	0.29716	0.255	B	0.24974	0.057	T	0.12785	-1.0534	9	0.02654	T	1	.	10.4006	0.44227	0.854:0.0:0.0:0.146	.	1098	Q96DT5	DYH11_HUMAN	E	1098	ENSP00000330671:K1098E	ENSP00000330671:K1098E	K	+	1	0	DNAH11	21607189	0.999000	0.42202	1.000000	0.80357	0.235000	0.25334	0.965000	0.29319	2.073000	0.62155	0.460000	0.39030	AAA		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21641066	21641066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21641066G>T	ENST00000409508.3	+	18	3509	c.3478G>T	c.(3478-3480)Gaa>Taa	p.E1160*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E1160*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1160	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1160*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCAGAGAGAATTAAATGA	0.348									Kartagener syndrome																												p.E1160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3478T	7						.						85.0	84.0	84.0					7																	21641066		1825	4083	5908	21607591	SO:0001587	stop_gained	8701	exon18	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3478G>T	7.37:g.21641066G>T	ENSP00000475939:p.Glu1160*		21607591	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	41	8.673600	0.98910	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.7	2.85	0.33270	.	0.616552	0.15736	N	0.247141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.8676	0.24102	0.1518:0.267:0.5813:0.0	.	.	.	.	X	1160	.	ENSP00000330671:E1160X	E	+	1	0	DNAH11	21607591	0.096000	0.21769	0.803000	0.32268	0.583000	0.36354	0.735000	0.26115	0.316000	0.23135	0.650000	0.86243	GAA		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21646160	21646160	+	Splice_Site	SNP	C	C	T	rs190062687	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21646160C>T	ENST00000409508.3	+	19	3796	c.3765C>T	c.(3763-3765)gaC>gaT	p.D1255D	DNAH11_ENST00000328843.6_Splice_Site_p.D1255D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1255	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1255D(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTTGTTTGACGTAAGCTAGT	0.313									Kartagener syndrome				C|||	5	0.000998403	0.0038	0.0	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0				p.D1255D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3765T	7						.	C		13,3649		0,13,1818	68.0	64.0	65.0		3765	4.4	1.0	7		65	1,8177		0,1,4088	yes	coding-synonymous-near-splice	DNAH11	NM_003777.3		0,14,5906	TT,TC,CC		0.0122,0.355,0.1182		1255/4524	21646160	14,11826	1831	4089	5920	21612685	SO:0001630	splice_region_variant	8701	exon19	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3765+1C>T	7.37:g.21646160C>T			21612685	NM_003777	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	Silent
DNAH11	8701	broad.mit.edu	37	7	21654843	21654843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21654843G>T	ENST00000409508.3	+	21	3995	c.3964G>T	c.(3964-3966)Gaa>Taa	p.E1322*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E1322*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1322	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1322*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGTCGCAAAGAAATAAAATT	0.353									Kartagener syndrome																												p.E1322X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3964T	7						.						139.0	132.0	134.0					7																	21654843		1850	4099	5949	21621368	SO:0001587	stop_gained	8701	exon21	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3964G>T	7.37:g.21654843G>T	ENSP00000475939:p.Glu1322*		21621368	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	44	11.167547	0.99525	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.37	5.37	0.77165	.	0.304292	0.34484	N	0.003926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.4715	0.84112	0.0:0.1309:0.8691:0.0	.	.	.	.	X	1322	.	ENSP00000330671:E1322X	E	+	1	0	DNAH11	21621368	1.000000	0.71417	0.458000	0.27068	0.988000	0.76386	7.829000	0.86735	2.659000	0.90383	0.655000	0.94253	GAA		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21721203	21721203	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21721203G>A	ENST00000409508.3	+	31	5399	c.5368G>A	c.(5368-5370)Gaa>Aaa	p.E1790K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1795K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1795	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1795K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTGGGAGAACTTCCACC	0.403									Kartagener syndrome																												p.E1795K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5383A	7						.						107.0	99.0	101.0					7																	21721203		1877	4124	6001	21687728	SO:0001583	missense	8701	exon31	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5368G>A	7.37:g.21721203G>A	ENSP00000475939:p.Glu1790Lys		21687728	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	19.29	3.799307	0.70567	.	.	ENSG00000105877	ENST00000328843	T	0.57436	0.4	5.39	5.39	0.77823	.	0.130967	0.56097	D	0.000025	T	0.44685	0.1305	.	.	.	0.58432	D	0.999999	P	0.40909	0.732	B	0.40199	0.322	T	0.25117	-1.0141	9	0.13470	T	0.59	.	19.1182	0.93351	0.0:0.0:1.0:0.0	.	1795	Q96DT5	DYH11_HUMAN	K	1795	ENSP00000330671:E1795K	ENSP00000330671:E1795K	E	+	1	0	DNAH11	21687728	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.234000	0.58658	2.665000	0.90641	0.585000	0.79938	GAA		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21726808	21726808	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21726808G>T	ENST00000409508.3	+	33	5744	c.5713G>T	c.(5713-5715)Gac>Tac	p.D1905Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1912Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1912	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1912Y(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACCACCAAAGACCTAGGACG	0.423									Kartagener syndrome																												p.R1912I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5735T	7						.						91.0	93.0	92.0					7																	21726808		1879	4124	6003	21693333	SO:0001583	missense	8701	exon33	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5713G>T	7.37:g.21726808G>T	ENSP00000475939:p.Asp1905Tyr		21693333	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	17.23	3.337674	0.60963	.	.	ENSG00000105877	ENST00000328843	T	0.15718	2.4	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42361	-0.9456	9	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	1912	Q96DT5	DYH11_HUMAN	Y	1912	ENSP00000330671:D1912Y	ENSP00000330671:D1912Y	D	+	1	0	DNAH11	21693333	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	9.756000	0.98918	2.769000	0.95229	0.563000	0.77884	GAC		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21727071	21727071	+	Silent	SNP	C	C	A	rs377208329		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21727071C>A	ENST00000409508.3	+	34	5881	c.5850C>A	c.(5848-5850)atC>atA	p.I1950I	DNAH11_ENST00000328843.6_Silent_p.I1957I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1957	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1957I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAACCGAATCTCTGTGGAAG	0.448									Kartagener syndrome																												p.L1958I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5872A	7						.						75.0	79.0	78.0					7																	21727071		2197	4299	6496	21693596	SO:0001819	synonymous_variant	8701	exon34	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5850C>A	7.37:g.21727071C>A			21693596	NM_003777	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21730393	21730393	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21730393C>A	ENST00000409508.3	+	35	5966	c.5935C>A	c.(5935-5937)Ctt>Att	p.L1979I	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1986I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1986	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1986I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTGTATTTCTTGGGGAAGC	0.353									Kartagener syndrome																												p.S1986Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5957A	7						.						157.0	150.0	152.0					7																	21730393		1827	4090	5917	21696918	SO:0001583	missense	8701	exon35	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5935C>A	7.37:g.21730393C>A	ENSP00000475939:p.Leu1979Ile		21696918	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	25.3	4.626065	0.87560	.	.	ENSG00000105877	ENST00000328843	T	0.12774	2.65	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	.	.	.	0.49687	D	0.999813	D	0.89917	1.0	D	0.87578	0.998	T	0.08229	-1.0732	9	0.56958	D	0.05	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1986	Q96DT5	DYH11_HUMAN	I	1986	ENSP00000330671:L1986I	ENSP00000330671:L1986I	L	+	1	0	DNAH11	21696918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.983000	0.40648	2.941000	0.99782	0.655000	0.94253	CTT		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21813410	21813410	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21813410T>G	ENST00000409508.3	+	56	9160	c.9129T>G	c.(9127-9129)ctT>ctG	p.L3043L	DNAH11_ENST00000328843.6_Silent_p.L3050L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3050	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3050L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATTAGCCTTTTCATGGCAC	0.343									Kartagener syndrome																												p.F3051V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9151G	7						.						57.0	52.0	53.0					7																	21813410		1846	4105	5951	21779935	SO:0001819	synonymous_variant	8701	exon56	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9129T>G	7.37:g.21813410T>G			21779935	NM_003777	Q9UJ82	Silent	SNP	ENST00000409508.3	37																																																																																					0.343	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21857893	21857893	+	Missense_Mutation	SNP	C	C	A	rs370350252		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21857893C>A	ENST00000409508.3	+	65	10658	c.10627C>A	c.(10627-10629)Ctc>Atc	p.L3543I	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3550I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3550	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3550I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTGAAAATCTCGAGGAAAC	0.333									Kartagener syndrome																												p.S3550Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10649A	7						.						95.0	87.0	90.0					7																	21857893		1836	4078	5914	21824418	SO:0001583	missense	8701	exon65	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10627C>A	7.37:g.21857893C>A	ENSP00000475939:p.Leu3543Ile		21824418	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	5.447	0.267496	0.10294	.	.	ENSG00000105877	ENST00000328843	T	0.24723	1.84	5.48	4.6	0.57074	.	0.066895	0.64402	D	0.000010	T	0.17534	0.0421	.	.	.	0.38288	D	0.942617	P	0.39094	0.659	B	0.43413	0.419	T	0.04203	-1.0969	9	0.05721	T	0.95	.	12.0134	0.53301	0.1436:0.7332:0.1233:0.0	.	3550	Q96DT5	DYH11_HUMAN	I	3550	ENSP00000330671:L3550I	ENSP00000330671:L3550I	L	+	1	0	DNAH11	21824418	0.997000	0.39634	0.995000	0.50966	0.927000	0.56198	0.935000	0.28924	1.300000	0.44818	0.644000	0.83932	CTC		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21892120	21892120	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21892120T>G	ENST00000409508.3	+	67	10963	c.10932T>G	c.(10930-10932)atT>atG	p.I3644M	DNAH11_ENST00000328843.6_Missense_Mutation_p.I3651M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3651	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I3651M(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTTTAAAATTGAGCTCAAGT	0.378									Kartagener syndrome																												p.X3652G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10954G	7						.						86.0	86.0	86.0					7																	21892120		1864	4093	5957	21858645	SO:0001583	missense	8701	exon67	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10932T>G	7.37:g.21892120T>G	ENSP00000475939:p.Ile3644Met		21858645	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.75|16.75	3.208686|3.208686	0.58343|0.58343	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000328843|ENST00000421290	T|.	0.55413|.	0.52|.	6.14|6.14	-10.3|-10.3	0.00346|0.00346	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.43875|.	0.1267|.	.|.	.|.	.|.	0.49483|0.49483	D|D	0.999794|0.999794	D|.	0.76494|.	0.999|.	D|.	0.75020|.	0.985|.	T|.	0.53129|.	-0.8482|.	9|.	0.51188|.	T|.	0.08|.	.|.	7.2173|7.2173	0.25967|0.25967	0.3109:0.3648:0.0:0.3243|0.3109:0.3648:0.0:0.3243	.|.	3651|.	Q96DT5|.	DYH11_HUMAN|.	M|G	3651|39	ENSP00000330671:I3651M|.	ENSP00000330671:I3651M|.	I|X	+|+	3|1	3|0	DNAH11|DNAH11	21858645|21858645	0.199000|0.199000	0.23386|0.23386	0.783000|0.783000	0.31826|0.31826	0.411000|0.411000	0.31082|0.31082	-0.427000|-0.427000	0.06999|0.06999	-1.615000|-1.615000	0.01573|0.01573	-0.253000|-0.253000	0.11424|0.11424	ATT|TGA		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CDCA7L	55536	broad.mit.edu	37	7	21945991	21945991	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21945991C>A	ENST00000406877.3	-	6	1116	c.837G>T	c.(835-837)gaG>gaT	p.E279D	CDCA7L_ENST00000373934.4_Missense_Mutation_p.E233D|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.E245D	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	279					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E279D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GAGCAAACTTCTCAGGAGGCC	0.507																																					p.E233D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	7						.						89.0	100.0	97.0					7																	21945991		2203	4300	6503	21912516	SO:0001583	missense	55536	exon5				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.837G>T	7.37:g.21945991C>A	ENSP00000383986:p.Glu279Asp		21912516	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052853	0.55218	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.49139	0.81;0.79;0.82	5.63	3.79	0.43588	.	0.050184	0.85682	D	0.000000	T	0.46171	0.1379	M	0.73598	2.24	0.51012	D	0.999906	B;B;B	0.20887	0.049;0.008;0.015	B;B;B	0.19391	0.015;0.01;0.025	T	0.41395	-0.9511	10	0.28530	T	0.3	-7.2211	10.95	0.47323	0.0:0.789:0.0:0.211	.	233;279;278	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	D	245;279;233	ENSP00000348523:E245D;ENSP00000383986:E279D;ENSP00000363045:E233D	ENSP00000348523:E245D	E	-	3	2	CDCA7L	21912516	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.298000	0.33412	1.363000	0.46019	0.655000	0.94253	GAG		0.507	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
CDCA7L	55536	broad.mit.edu	37	7	21947910	21947910	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:21947910C>A	ENST00000406877.3	-	4	798	c.519G>T	c.(517-519)caG>caT	p.Q173H	CDCA7L_ENST00000373934.4_Missense_Mutation_p.Q127H|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.Q139H	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	173					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q173H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTTTCTCATTCTGTAAGCGTG	0.433																																					p.Q127H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	7						.						91.0	82.0	85.0					7																	21947910		2203	4300	6503	21914435	SO:0001583	missense	55536	exon3				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.519G>T	7.37:g.21947910C>A	ENSP00000383986:p.Gln173His		21914435	NM_001127371	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345626	0.61073	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000457951	T;T;T;T	0.47528	0.93;0.92;0.93;0.84	5.95	0.17	0.15021	.	0.647404	0.14263	N	0.330669	T	0.33731	0.0873	L	0.36672	1.1	0.20074	N	0.999935	P;P;P;P	0.48640	0.815;0.776;0.913;0.884	B;B;B;B	0.43536	0.243;0.187;0.339;0.423	T	0.20940	-1.0260	10	0.66056	D	0.02	-11.9295	3.5798	0.07947	0.2186:0.5176:0.1065:0.1573	.	173;127;173;172	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	H	139;173;127;126	ENSP00000348523:Q139H;ENSP00000383986:Q173H;ENSP00000363045:Q127H;ENSP00000406616:Q126H	ENSP00000348523:Q139H	Q	-	3	2	CDCA7L	21914435	0.922000	0.31269	0.337000	0.25536	0.077000	0.17291	0.473000	0.22132	0.412000	0.25729	-0.169000	0.13324	CAG		0.433	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
IL6	3569	broad.mit.edu	37	7	22767227	22767227	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:22767227G>A	ENST00000404625.1	+	3	643	c.184G>A	c.(184-186)Gac>Aac	p.D62N	IL6_ENST00000420258.2_Missense_Mutation_p.D116N|IL6_ENST00000258743.5_Missense_Mutation_p.D62N|IL6_ENST00000406575.1_Missense_Mutation_p.D62N|IL6_ENST00000401630.3_Missense_Mutation_p.D39N|IL6_ENST00000407492.1_Intron|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA			P05231	IL6_HUMAN	interleukin 6	62					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|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)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.D62N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	GTACATCCTCGACGGCATCTC	0.597																																					p.D62N	Esophageal Squamous(47;342 1214 13936 33513)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184A	7						.						95.0	91.0	92.0					7																	22767227		2203	4300	6503	22733752	SO:0001583	missense	3569	exon2			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.184G>A	7.37:g.22767227G>A	ENSP00000385675:p.Asp62Asn		22733752	NM_000600	Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640591	0.47153	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.73	-11.5	0.00074	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.791630	0.00678	N	0.000679	T	0.10380	0.0254	L	0.47716	1.5	0.09310	N	1	D;P;B	0.59767	0.986;0.842;0.424	B;B;B	0.42798	0.398;0.184;0.046	T	0.46442	-0.9191	10	0.16420	T	0.52	7.5021	1.9144	0.03294	0.4706:0.1792:0.1025:0.2477	.	116;62;62	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	N	62;62;62;116;39;62	ENSP00000385675:D62N;ENSP00000405150:D62N;ENSP00000258743:D62N;ENSP00000405994:D116N;ENSP00000384928:D39N;ENSP00000385227:D62N	ENSP00000258743:D62N	D	+	1	0	IL6	22733752	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.562000	0.02156	-2.556000	0.00476	-1.130000	0.01982	GAC		0.597	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600	
FAM126A	84668	broad.mit.edu	37	7	23000877	23000877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23000877C>A	ENST00000432176.2	-	9	1040	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	FAM126A_ENST00000409923.1_Nonsense_Mutation_p.E270*|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	270					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.E270*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GGATATAATTCTAGCTGGGCT	0.299																																					p.E270X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G808T	7						.						73.0	79.0	77.0					7																	23000877		2203	4298	6501	22967402	SO:0001587	stop_gained	84668	exon9			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.808G>T	7.37:g.23000877C>A	ENSP00000403396:p.Glu270*		22967402	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	ENST00000432176.2	37	CCDS5377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.022799|7.022799	0.98010|0.98010	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000432176;ENST00000409923|ENST00000440481	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.046278|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	-6.7447|-6.7447	18.9288|18.9288	0.92556|0.92556	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|Y	270|321	.|.	ENSP00000386246:E270X|.	E|X	-|-	1|3	0|2	FAM126A|FAM126A	22967402|22967402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.111000|7.111000	0.77077|0.77077	2.482000|2.482000	0.83794|0.83794	0.650000|0.650000	0.86243|0.86243	GAA|TAG		0.299	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
KLHL7	55975	broad.mit.edu	37	7	23191755	23191755	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23191755G>T	ENST00000339077.5	+	7	1106	c.863G>T	c.(862-864)aGa>aTa	p.R288I	KLHL7_ENST00000409689.1_Missense_Mutation_p.R240I|KLHL7_ENST00000539124.1_Missense_Mutation_p.R212I|KLHL7_ENST00000542558.1_Missense_Mutation_p.R63I|KLHL7_ENST00000545443.1_Missense_Mutation_p.R266I|KLHL7_ENST00000322231.7_Missense_Mutation_p.R266I	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	288					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.R266I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGACCTAGAAGAAAGAAACAT	0.408																																					p.R288I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863T	7						.						136.0	129.0	131.0					7																	23191755		2203	4300	6503	23158280	SO:0001583	missense	55975	exon7				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.863G>T	7.37:g.23191755G>T	ENSP00000343273:p.Arg288Ile		23158280	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364248	0.95877	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443;ENST00000414163	T;T;T;T;T;T;T	0.79247	-0.62;-0.61;-0.58;-0.78;-0.6;-0.62;-1.25	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	L	0.34521	1.04	0.80722	D	1	P;P;B	0.38922	0.651;0.651;0.112	B;B;B	0.33196	0.159;0.081;0.031	T	0.73017	-0.4115	10	0.59425	D	0.04	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	63;288;266	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	I	129;254;266;288;212;63;240;266;56	ENSP00000322958:R266I;ENSP00000343273:R288I;ENSP00000441136:R212I;ENSP00000442367:R63I;ENSP00000386263:R240I;ENSP00000442366:R266I;ENSP00000404181:R56I	ENSP00000322958:R266I	R	+	2	0	KLHL7	23158280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.835000	0.92100	2.764000	0.94973	0.655000	0.94253	AGA		0.408	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	
GPNMB	10457	broad.mit.edu	37	7	23299726	23299726	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23299726C>T	ENST00000381990.2	+	5	830	c.669C>T	c.(667-669)atC>atT	p.I223I	GPNMB_ENST00000539136.1_Silent_p.I124I|GPNMB_ENST00000453162.2_Silent_p.I165I|GPNMB_ENST00000258733.4_Silent_p.I223I	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	223					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.I223I(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			ATGTTCCCATCGCACAAGTGA	0.463																																					p.I223I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C669T	7						.						166.0	150.0	155.0					7																	23299726		2203	4300	6503	23266251	SO:0001819	synonymous_variant	10457	exon5			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.669C>T	7.37:g.23299726C>T			23266251	NM_001005340	A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	CCDS34610.1																																																																																				0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
MALSU1	115416	broad.mit.edu	37	7	23349030	23349030	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23349030G>T	ENST00000466681.1	+	4	726	c.573G>T	c.(571-573)gaG>gaT	p.E191D		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	191					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)		p.E191D(1)									ATGAATTAGAGAAATTATGGA	0.388																																					p.E191D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G573T	7						.						145.0	140.0	141.0					7																	23349030		2203	4300	6503	23315555	SO:0001583	missense	115416	exon4			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.573G>T	7.37:g.23349030G>T	ENSP00000419370:p.Glu191Asp		23315555	NM_138446	A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212175	0.79240	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.76838	2.35	0.46521	D	0.999088	D	0.89917	1.0	D	0.91635	0.999	T	0.77143	-0.2696	9	0.87932	D	0	-16.5236	9.9494	0.41630	0.275:0.0:0.725:0.0	.	191	Q96EH3	CG030_HUMAN	D	191	.	ENSP00000419370:E191D	E	+	3	2	C7orf30	23315555	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.312000	0.33574	0.741000	0.32674	0.591000	0.81541	GAG		0.388	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446	
IGF2BP3	10643	broad.mit.edu	37	7	23385660	23385660	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23385660C>A	ENST00000258729.3	-	8	1196	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	280	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.K280N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGCTAAAATCTTCAAGGGGA	0.323																																					p.K280N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G840T	7						.						97.0	95.0	96.0					7																	23385660		2203	4300	6503	23352185	SO:0001583	missense	10643	exon8			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.840G>T	7.37:g.23385660C>A	ENSP00000258729:p.Lys280Asn		23352185	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341445	0.81911	.	.	ENSG00000136231	ENST00000258729	T	0.31247	1.5	6.07	6.07	0.98685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68727	-0.5332	10	0.87932	D	0	-2.1077	13.793	0.63152	0.0:0.9304:0.0:0.0696	.	280	O00425	IF2B3_HUMAN	N	280	ENSP00000258729:K280N	ENSP00000258729:K280N	K	-	3	2	IGF2BP3	23352185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.153000	0.42282	2.890000	0.99128	0.650000	0.86243	AAG		0.323	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
IGF2BP3	10643	broad.mit.edu	37	7	23387327	23387327	+	Missense_Mutation	SNP	G	G	A	rs202212306		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23387327G>A	ENST00000258729.3	-	7	1066	c.710C>T	c.(709-711)gCg>gTg	p.A237V		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	237	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.A237V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCAGCCCCCGCATTTTCTTT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17483	0.0		0.0	False		,,,				2504	0.0				p.A237V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C710T	7						.	G	VAL/ALA	0,4406		0,0,2203	93.0	85.0	88.0		710	6.1	1.0	7		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2BP3	NM_006547.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	237/580	23387327	1,13005	2203	4300	6503	23353852	SO:0001583	missense	10643	exon7			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.710C>T	7.37:g.23387327G>A	ENSP00000258729:p.Ala237Val		23353852	NM_006547	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.9	4.474605	0.84640	0.0	1.16E-4	ENSG00000136231	ENST00000258729	T	0.42513	0.97	6.07	6.07	0.98685	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.045776	0.85682	D	0.000000	T	0.46560	0.1399	L	0.31476	0.935	0.58432	D	0.999999	D	0.53619	0.961	P	0.54210	0.745	T	0.08186	-1.0734	10	0.15952	T	0.53	-14.529	20.6439	0.99570	0.0:0.0:1.0:0.0	.	237	O00425	IF2B3_HUMAN	V	237	ENSP00000258729:A237V	ENSP00000258729:A237V	A	-	2	0	IGF2BP3	23353852	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.414000	0.97362	2.890000	0.99128	0.650000	0.86243	GCG		0.468	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
FAM221A	340277	broad.mit.edu	37	7	23724180	23724180	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23724180G>T	ENST00000344962.4	+	2	217	c.128G>T	c.(127-129)aGa>aTa	p.R43I	FAM221A_ENST00000409994.3_Intron|FAM221A_ENST00000409653.1_Intron|FAM221A_ENST00000409192.3_Missense_Mutation_p.R43I	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	43								p.R43I(1)									GAATACAAAAGAAAAGTTTTA	0.373																																					p.R43I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128T	7						.						73.0	75.0	74.0					7																	23724180		2203	4300	6503	23690705	SO:0001583	missense	340277	exon2				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.128G>T	7.37:g.23724180G>T	ENSP00000342576:p.Arg43Ile		23690705	NM_199136	Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043280	0.55003	.	.	ENSG00000188732	ENST00000409192;ENST00000344962	T;T	0.17528	2.27;2.27	5.63	0.317	0.15861	.	0.523738	0.22100	N	0.064621	T	0.08492	0.0211	L	0.29908	0.895	0.58432	D	0.999999	P;P	0.40144	0.624;0.704	B;B	0.28916	0.096;0.096	T	0.19321	-1.0309	10	0.87932	D	0	-8.0321	5.8845	0.18874	0.4452:0.1314:0.4233:0.0	.	43;43	A4D161-2;A4D161	.;CG046_HUMAN	I	43	ENSP00000386927:R43I;ENSP00000342576:R43I	ENSP00000342576:R43I	R	+	2	0	C7orf46	23690705	0.995000	0.38212	0.996000	0.52242	0.995000	0.86356	0.436000	0.21526	0.282000	0.22254	0.555000	0.69702	AGA		0.373	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136	
STK31	56164	broad.mit.edu	37	7	23811892	23811892	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:23811892G>A	ENST00000355870.3	+	15	2079	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	STK31_ENST00000354639.3_Missense_Mutation_p.E631K|STK31_ENST00000433467.2_Missense_Mutation_p.E654K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E631K	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	654						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.E654K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGTAATTTGGAAGAGGTAAG	0.333																																					p.E631K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1891A	7						.						74.0	77.0	76.0					7																	23811892		2203	4293	6496	23778417	SO:0001583	missense	56164	exon15			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1960G>A	7.37:g.23811892G>A	ENSP00000348132:p.Glu654Lys		23778417	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903392	0.92035	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	D;T;D;D	0.85013	-1.93;-0.1;-1.89;-1.89	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	M	0.66939	2.045	0.49915	D	0.999832	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92335	0.5877	10	0.66056	D	0.02	-14.8818	18.3042	0.90175	0.0:0.0:1.0:0.0	.	654;654	B4DZ06;Q9BXU1	.;STK31_HUMAN	K	654;654;631;631	ENSP00000348132:E654K;ENSP00000411852:E654K;ENSP00000346660:E631K;ENSP00000406146:E631K	ENSP00000346660:E631K	E	+	1	0	STK31	23778417	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.127000	0.71642	2.423000	0.82170	0.557000	0.71058	GAA		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
OSBPL3	26031	broad.mit.edu	37	7	24892208	24892208	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:24892208C>A	ENST00000313367.2	-	11	1524	c.1073G>T	c.(1072-1074)aGa>aTa	p.R358I	OSBPL3_ENST00000396431.1_Missense_Mutation_p.R327I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.R358I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.R327I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.R358I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.R327I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.R327I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	358					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.R358I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CAGTTTCTCTCTCTCCGCTGA	0.413																																					p.R358I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1073T	7						.						92.0	76.0	81.0					7																	24892208		2203	4300	6503	24858733	SO:0001583	missense	26031	exon11			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1073G>T	7.37:g.24892208C>A	ENSP00000315410:p.Arg358Ile		24858733	NM_145321	A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234772	0.79800	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.54479	1.98;0.71;0.57;1.78;0.71;0.57;1.78	5.16	4.28	0.50868	.	0.046336	0.85682	D	0.000000	T	0.69495	0.3117	M	0.68593	2.085	0.58432	D	0.999996	D;D;D;D;D;P	0.89917	1.0;0.959;0.993;0.997;0.999;0.843	D;P;D;D;D;P	0.91635	0.999;0.908;0.956;0.975;0.979;0.531	T	0.72093	-0.4394	10	0.59425	D	0.04	-16.1599	13.747	0.62881	0.0:0.9259:0.0:0.0741	.	327;358;327;327;358;358	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	I	358;327;358;327;327;358;327	ENSP00000315410:R358I;ENSP00000315331:R327I;ENSP00000315277:R358I;ENSP00000389779:R327I;ENSP00000379708:R327I;ENSP00000379706:R358I;ENSP00000386953:R327I	ENSP00000315410:R358I	R	-	2	0	OSBPL3	24858733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.589000	0.46145	1.184000	0.42957	0.561000	0.74099	AGA		0.413	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		
NFE2L3	9603	broad.mit.edu	37	7	26217629	26217629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:26217629G>T	ENST00000056233.3	+	2	896	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	213					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E213*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGAAAATGAAGAAAGGGTGTC	0.413																																					p.E213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G637T	7						.						87.0	85.0	86.0					7																	26217629		2203	4300	6503	26184154	SO:0001587	stop_gained	9603	exon2			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.637G>T	7.37:g.26217629G>T	ENSP00000056233:p.Glu213*		26184154	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Nonsense_Mutation	SNP	ENST00000056233.3	37	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398957	0.96030	.	.	ENSG00000050344	ENST00000056233	.	.	.	4.52	1.71	0.24356	.	0.774862	0.11555	N	0.552341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.438	4.952	0.14019	0.0:0.3644:0.3602:0.2754	.	.	.	.	X	213	.	ENSP00000056233:E213X	E	+	1	0	NFE2L3	26184154	0.770000	0.28543	0.003000	0.11579	0.394000	0.30568	1.095000	0.30964	0.391000	0.25143	0.655000	0.94253	GAA		0.413	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1		
HOXA2	3199	broad.mit.edu	37	7	27140770	27140770	+	Missense_Mutation	SNP	C	C	T	rs372854321		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27140770C>T	ENST00000222718.5	-	2	1016	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	236					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A236T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ACGCTAAGGGCTTGCTCAAAG	0.527																																					p.A236T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	7						.	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	106.0	98.0	100.0		706	4.6	1.0	7		100	0,8600		0,0,4300	no	missense	HOXA2	NM_006735.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	236/377	27140770	1,13005	2203	4300	6503	27107295	SO:0001583	missense	3199	exon2				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.706G>A	7.37:g.27140770C>T	ENSP00000222718:p.Ala236Thr		27107295	NM_006735	A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727486	0.30593	2.27E-4	0.0	ENSG00000105996	ENST00000222718	T	0.09445	2.98	5.45	4.55	0.56014	.	0.065629	0.64402	D	0.000012	T	0.14399	0.0348	M	0.61703	1.905	0.49915	D	0.999834	B	0.12013	0.005	B	0.17433	0.018	T	0.03684	-1.1013	10	0.23302	T	0.38	.	15.9223	0.79586	0.0:0.8642:0.1358:0.0	.	236	O43364	HXA2_HUMAN	T	236	ENSP00000222718:A236T	ENSP00000222718:A236T	A	-	1	0	HOXA2	27107295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.966000	0.49208	1.382000	0.46385	0.655000	0.94253	GCC		0.527	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
HOXA2	3199	broad.mit.edu	37	7	27141985	27141985	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27141985C>T	ENST00000222718.5	-	1	445	c.135G>A	c.(133-135)tcG>tcA	p.S45S	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	45					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S45S(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GAATCAGTGTCGAGTGTGAAA	0.597																																					p.S45S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G135A	7						.						97.0	109.0	105.0					7																	27141985		2203	4300	6503	27108510	SO:0001819	synonymous_variant	3199	exon1				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.135G>A	7.37:g.27141985C>T			27108510	NM_006735	A1L4K3|B2RMW3	Silent	SNP	ENST00000222718.5	37	CCDS5403.1																																																																																				0.597	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
HOXA3	3200	broad.mit.edu	37	7	27147599	27147599	+	Missense_Mutation	SNP	C	C	T	rs371241609		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27147599C>T	ENST00000396352.4	-	3	1466	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	HOXA3_ENST00000317201.2_Missense_Mutation_p.D423N|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	423					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D423N(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGGTAAGGTCCGTGTAGGTG	0.687																																					p.D423N	Esophageal Squamous(136;1368 1743 5685 7935 50360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267A	7						.	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	46.0	54.0	51.0		1267,1267	5.6	1.0	7		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HOXA3	NM_030661.4,NM_153631.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	423/444,423/444	27147599	1,13005	2203	4300	6503	27114124	SO:0001583	missense	3200	exon3				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1267G>A	7.37:g.27147599C>T	ENSP00000379640:p.Asp423Asn		27114124	NM_030661	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996011	0.54147	0.0	1.16E-4	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.89485	-2.52;-2.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95508	0.8583	10	0.87932	D	0	.	19.6081	0.95588	0.0:1.0:0.0:0.0	.	423	O43365	HXA3_HUMAN	N	423;423;265	ENSP00000379640:D423N;ENSP00000324884:D423N	ENSP00000324884:D423N	D	-	1	0	HOXA3	27114124	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.482000	0.81143	2.652000	0.90054	0.591000	0.81541	GAC		0.687	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2		
HOXA3	3200	broad.mit.edu	37	7	27148158	27148158	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27148158C>A	ENST00000396352.4	-	3	907	c.708G>T	c.(706-708)aaG>aaT	p.K236N	HOXA3_ENST00000317201.2_Missense_Mutation_p.K236N|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	236					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K236N(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GGAACCAGATCTTGATCTGGC	0.587																																					p.K236N	Esophageal Squamous(136;1368 1743 5685 7935 50360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G708T	7						.						147.0	131.0	136.0					7																	27148158		2203	4300	6503	27114683	SO:0001583	missense	3200	exon3				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.708G>T	7.37:g.27148158C>A	ENSP00000379640:p.Lys236Asn		27114683	NM_030661	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985000	0.35036	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.96913	-4.17;-4.17	4.85	2.9	0.33743	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.046295	0.85682	D	0.000000	D	0.98432	0.9478	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97570	1.0104	10	0.87932	D	0	.	6.5591	0.22476	0.0:0.6944:0.0:0.3056	.	236	O43365	HXA3_HUMAN	N	236;236;78	ENSP00000379640:K236N;ENSP00000324884:K236N	ENSP00000324884:K236N	K	-	3	2	HOXA3	27114683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.125000	0.42016	1.276000	0.44395	-0.136000	0.14681	AAG		0.587	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2		
HOXA6	3203	broad.mit.edu	37	7	27185425	27185425	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27185425C>T	ENST00000222728.3	-	2	578	c.554G>A	c.(553-555)cGc>cAc	p.R185H	HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	185					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R185H(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GATCTCGATGCGGCGGCGCCG	0.602																																					p.R185H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G554A	7						.						164.0	151.0	155.0					7																	27185425		2203	4300	6503	27151950	SO:0001583	missense	3203	exon2				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.554G>A	7.37:g.27185425C>T	ENSP00000222728:p.Arg185His		27151950	NM_024014	A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	C	36	5.880790	0.97062	.	.	ENSG00000106006	ENST00000222728	D	0.97505	-4.41	5.36	5.36	0.76844	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99222	1.0879	10	0.87932	D	0	.	19.0808	0.93180	0.0:1.0:0.0:0.0	.	185	P31267	HXA6_HUMAN	H	185	ENSP00000222728:R185H	ENSP00000222728:R185H	R	-	2	0	HOXA6	27151950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.511000	0.84671	0.561000	0.74099	CGC		0.602	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
HOXA13	3209	broad.mit.edu	37	7	27237978	27237978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27237978C>A	ENST00000222753.4	-	2	1034	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	HOTTIP_ENST00000521028.2_RNA|HOTTIP_ENST00000472494.1_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	336					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E336*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CGTTCAAGTTCTTTTAATTGC	0.502			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.E336X			Dom	yes		7	7p15-p14.2	3209	homeo box A13		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1006T	7						.						189.0	186.0	187.0					7																	27237978		2203	4300	6503	27204503	SO:0001587	stop_gained	3209	exon2				CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1006G>T	7.37:g.27237978C>A	ENSP00000222753:p.Glu336*	792	27204503	NM_000522	A4D188|O43371	Nonsense_Mutation	SNP	ENST00000222753.4	37	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873165	0.97049	.	.	ENSG00000106031	ENST00000222753	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1476	0.93475	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000222753:E336X	E	-	1	0	HOXA13	27204503	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.092000	0.71414	2.609000	0.88269	0.563000	0.77884	GAA		0.502	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3		
TAX1BP1	8887	broad.mit.edu	37	7	27809319	27809319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27809319G>T	ENST00000396319.2	+	5	566	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.E160*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.E3*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.E160*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.E160*|TAX1BP1_ENST00000494033.1_3'UTR	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	160					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.E160*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACCATGAAAGAAAAAGAAGA	0.294																																					p.E160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G478T	7						.						46.0	46.0	46.0					7																	27809319		2202	4298	6500	27775844	SO:0001587	stop_gained	8887	exon5			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.478G>T	7.37:g.27809319G>T	ENSP00000379612:p.Glu160*		27775844	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880543	0.97908	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	.	.	.	5.57	4.67	0.58626	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.569	15.5706	0.76333	0.0:0.0:0.861:0.139	.	.	.	.	X	160;160;160;3;160	.	ENSP00000265393:E160X	E	+	1	0	TAX1BP1	27775844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.443000	0.80521	1.306000	0.44926	0.650000	0.86243	GAA		0.294	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
TAX1BP1	8887	broad.mit.edu	37	7	27824920	27824920	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27824920G>A	ENST00000396319.2	+	6	839	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E251K|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E94K|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E251K|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E251K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	251					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.E251K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AAAAGAAACCGAATTAGACAG	0.284																																					p.E251K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751A	7						.						63.0	62.0	62.0					7																	27824920		2203	4300	6503	27791445	SO:0001583	missense	8887	exon6			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.751G>A	7.37:g.27824920G>A	ENSP00000379612:p.Glu251Lys		27791445	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341971	0.95783	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.89	5.89	0.94794	.	0.238942	0.28694	N	0.014457	T	0.41581	0.1165	M	0.73217	2.22	0.80722	D	1	D;D;D	0.71674	0.976;0.998;0.985	P;P;P	0.60117	0.597;0.869;0.793	T	0.13282	-1.0515	10	0.72032	D	0.01	-12.8135	20.2572	0.98426	0.0:0.0:1.0:0.0	.	94;251;251	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	K	251;251;251;94;251	ENSP00000444811:E251K;ENSP00000265393:E251K;ENSP00000386515:E251K;ENSP00000391907:E94K;ENSP00000379612:E251K	ENSP00000265393:E251K	E	+	1	0	TAX1BP1	27791445	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	7.130000	0.77235	2.793000	0.96121	0.650000	0.86243	GAA		0.284	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
TAX1BP1	8887	broad.mit.edu	37	7	27831747	27831747	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27831747G>A	ENST00000396319.2	+	9	1249	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	TAX1BP1_ENST00000265393.6_Silent_p.T387T|TAX1BP1_ENST00000433216.2_Silent_p.T230T|TAX1BP1_ENST00000543117.1_Silent_p.T387T|TAX1BP1_ENST00000409980.1_Silent_p.T387T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	387	Oligomerization.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.T387T(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GAGACAGAACGATGGCAGACC	0.443																																					p.T387T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1161A	7						.						106.0	96.0	99.0					7																	27831747		2203	4300	6503	27798272	SO:0001819	synonymous_variant	8887	exon9			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1161G>A	7.37:g.27831747G>A			27798272	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.443	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
TAX1BP1	8887	broad.mit.edu	37	7	27835788	27835788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27835788G>T	ENST00000396319.2	+	12	1676	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.E530*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.E373*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.E530*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.E530*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	530					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.E530*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AATGACCAAAGAAATTGCTGA	0.328																																					p.E530X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1588T	7						.						85.0	95.0	92.0					7																	27835788		2203	4300	6503	27802313	SO:0001587	stop_gained	8887	exon12			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1588G>T	7.37:g.27835788G>T	ENSP00000379612:p.Glu530*		27802313	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626590	0.96671	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	.	.	.	5.91	5.91	0.95273	.	0.113488	0.38436	N	0.001693	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.2624	17.0175	0.86423	0.0:0.0:1.0:0.0	.	.	.	.	X	530;530;530;373;530;85	.	ENSP00000265393:E530X	E	+	1	0	TAX1BP1	27802313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.265000	0.58865	2.802000	0.96397	0.655000	0.94253	GAA		0.328	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
TAX1BP1	8887	broad.mit.edu	37	7	27856611	27856611	+	Missense_Mutation	SNP	G	G	A	rs377595038		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:27856611G>A	ENST00000396319.2	+	15	2127	c.2039G>A	c.(2038-2040)cGa>cAa	p.R680Q	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.R638Q|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.R481Q|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.R638Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.R704Q	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	680					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.R680Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAGCCTGCTCGAAACTTTAGT	0.453																																					p.R680Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2039A	7						.						90.0	89.0	90.0					7																	27856611		2203	4300	6503	27823136	SO:0001583	missense	8887	exon15			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2039G>A	7.37:g.27856611G>A	ENSP00000379612:p.Arg680Gln		27823136	NM_006024	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257992	0.95368	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.54479	1.86;1.86;2.44;0.57;1.75	5.91	5.91	0.95273	.	0.000000	0.45867	D	0.000331	T	0.72423	0.3458	M	0.69823	2.125	0.46376	D	0.999011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.93;0.983;0.987	T	0.65796	-0.6081	10	0.26408	T	0.33	-9.3254	20.2963	0.98556	0.0:0.0:1.0:0.0	.	481;680;638	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	Q	638;638;704;481;680;217	ENSP00000444811:R638Q;ENSP00000265393:R638Q;ENSP00000386515:R704Q;ENSP00000391907:R481Q;ENSP00000379612:R680Q	ENSP00000265393:R638Q	R	+	2	0	TAX1BP1	27823136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.801000	0.69115	2.813000	0.96785	0.655000	0.94253	CGA		0.453	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024	
CREB5	9586	broad.mit.edu	37	7	28527810	28527810	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:28527810G>T	ENST00000357727.2	+	2	411	c.21G>T	c.(19-21)aaG>aaT	p.K7N	CREB5_ENST00000396300.2_5'UTR|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000409603.1_5'Flank	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	7					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K7N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGGAATCCAAGATGAATTTGG	0.512																																					p.K7N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21T	7						.						109.0	111.0	110.0					7																	28527810		2203	4300	6503	28494335	SO:0001583	missense	9586	exon2			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.21G>T	7.37:g.28527810G>T	ENSP00000350359:p.Lys7Asn		28494335	NM_182898	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180615	0.78677	.	.	ENSG00000146592	ENST00000357727	T	0.65364	-0.15	6.08	6.08	0.98989	.	0.142964	0.52532	D	0.000071	T	0.47875	0.1469	N	0.08118	0	0.80722	D	1	B	0.19583	0.037	B	0.11329	0.006	T	0.42155	-0.9468	10	0.62326	D	0.03	-28.6856	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7	Q02930	CREB5_HUMAN	N	7	ENSP00000350359:K7N	ENSP00000350359:K7N	K	+	3	2	CREB5	28494335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.894000	0.99253	0.655000	0.94253	AAG		0.512	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
CREB5	9586	broad.mit.edu	37	7	28547353	28547353	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:28547353C>T	ENST00000357727.2	+	4	679	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	CREB5_ENST00000396300.2_Missense_Mutation_p.R90W|CREB5_ENST00000396299.2_Missense_Mutation_p.R64W|CREB5_ENST00000409603.1_Missense_Mutation_p.R64W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	97					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R97W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GAGCAGCAAGCGGGTAGGTTT	0.567																																					p.R90W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268T	7						.						87.0	93.0	91.0					7																	28547353		2203	4300	6503	28513878	SO:0001583	missense	9586	exon4			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.289C>T	7.37:g.28547353C>T	ENSP00000350359:p.Arg97Trp		28513878	NM_004904	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061267	0.55432	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.49	3.49	0.39957	.	0.055994	0.64402	D	0.000001	T	0.35364	0.0929	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	B	0.44315	0.446	T	0.25187	-1.0139	10	0.52906	T	0.07	-22.8426	11.4148	0.49945	0.546:0.4539:0.0:0.0	.	97	Q02930	CREB5_HUMAN	W	64;90;97;90;64	ENSP00000379593:R64W;ENSP00000394088:R90W;ENSP00000350359:R97W;ENSP00000379594:R90W;ENSP00000387197:R64W	ENSP00000350359:R97W	R	+	1	2	CREB5	28513878	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.586000	0.46119	1.303000	0.44873	0.655000	0.94253	CGG		0.567	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
CREB5	9586	broad.mit.edu	37	7	28725814	28725814	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:28725814G>T	ENST00000357727.2	+	6	854				CREB5_ENST00000396298.2_Splice_Site_p.R16M|CREB5_ENST00000396300.2_Intron|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000409603.1_Intron	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5						adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R16M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGTCCATGAGGTTTGTTTTT	0.413																																					p.R16M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47T	7						.						165.0	150.0	155.0					7																	28725814		1871	4102	5973	28692339	SO:0001627	intron_variant	9586	exon1			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.465-32556G>T	7.37:g.28725814G>T			28692339	NM_001011666	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Intron	SNP	ENST00000357727.2	37	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845209	0.51164	.	.	ENSG00000146592	ENST00000396298	T	0.64085	-0.08	6.17	6.17	0.99709	.	.	.	.	.	T	0.60405	0.2266	N	0.02011	-0.69	0.45172	D	0.998186	D;D	0.76494	0.999;0.99	D;D	0.81914	0.995;0.962	T	0.73375	-0.4002	9	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	16;16	B7Z4Z1;B4DU13	.;.	M	16	ENSP00000379592:R16M	ENSP00000379592:R16M	R	+	2	0	CREB5	28692339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.094000	0.76944	2.941000	0.99782	0.655000	0.94253	AGG		0.413	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	
CPVL	54504	broad.mit.edu	37	7	29070308	29070308	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:29070308C>T	ENST00000409850.1	-	16	1851	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	CPVL_ENST00000396276.3_Missense_Mutation_p.G402D|CPVL_ENST00000265394.5_Missense_Mutation_p.G402D			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	402						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G402D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCAGTCCATGCCCATCAAGGA	0.473																																					p.G402D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1205A	7						.						138.0	135.0	136.0					7																	29070308		2203	4300	6503	29036833	SO:0001583	missense	54504	exon12			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.1205G>A	7.37:g.29070308C>T	ENSP00000387164:p.Gly402Asp		29036833	NM_031311	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409683	0.11812	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.71	3.89	0.44902	.	0.441828	0.26341	N	0.024935	T	0.70971	0.3285	N	0.12569	0.235	0.26936	N	0.966341	B	0.33000	0.393	B	0.35971	0.215	T	0.59820	-0.7382	10	0.13853	T	0.58	1.8027	10.8978	0.47034	0.074:0.1348:0.7912:0.0	.	402	Q9H3G5	CPVL_HUMAN	D	402;402;67;402	ENSP00000265394:G402D;ENSP00000379572:G402D;ENSP00000403580:G67D;ENSP00000387164:G402D	ENSP00000265394:G402D	G	-	2	0	CPVL	29036833	1.000000	0.71417	0.990000	0.47175	0.079000	0.17450	4.614000	0.61183	1.404000	0.46819	-0.353000	0.07706	GGC		0.473	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
WIPF3	644150	broad.mit.edu	37	7	29915483	29915483	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:29915483C>T	ENST00000409290.1	+	2	128	c.128C>T	c.(127-129)cCg>cTg	p.P43L	WIPF3_ENST00000409123.1_Missense_Mutation_p.P43L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P43L	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	43					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.P43L(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AGGGCAGATCCGAAAGGCCGG	0.517																																					p.P43L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	7						.						64.0	72.0	69.0					7																	29915483		2108	4242	6350	29882008	SO:0001583	missense	644150	exon2			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.128C>T	7.37:g.29915483C>T	ENSP00000386878:p.Pro43Leu		29882008	NM_001080529	B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050013	0.19827	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.46451	0.87;0.87;0.87	5.22	1.54	0.23209	.	0.466636	0.18447	N	0.140941	T	0.26521	0.0648	L	0.35854	1.095	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.10800	-1.0614	10	0.36615	T	0.2	.	3.3734	0.07229	0.1887:0.5393:0.0:0.272	.	43	A6NGB9	WIPF3_HUMAN	L	43	ENSP00000386790:P43L;ENSP00000386878:P43L;ENSP00000242140:P43L	ENSP00000242140:P43L	P	+	2	0	WIPF3	29882008	0.000000	0.05858	0.250000	0.24296	0.520000	0.34377	0.406000	0.21032	0.854000	0.35336	0.643000	0.83706	CCG		0.517	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
FKBP14	55033	broad.mit.edu	37	7	30058686	30058686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30058686G>A	ENST00000222803.5	-	3	578	c.403C>T	c.(403-405)Cga>Tga	p.R135*	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	135	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R135*(1)		breast(1)|large_intestine(2)|lung(2)	5						GGTCCATTTCGAATCTCCAGG	0.388																																					p.R135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C403T	7						.						109.0	111.0	110.0					7																	30058686		2203	4300	6503	30025211	SO:0001587	stop_gained	55033	exon3			AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.403C>T	7.37:g.30058686G>A	ENSP00000222803:p.Arg135*		30025211	NM_017946		Nonsense_Mutation	SNP	ENST00000222803.5	37	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200192	0.97371	.	.	ENSG00000106080	ENST00000222803	.	.	.	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-3.1929	12.2885	0.54805	0.0:0.0:0.5857:0.4143	.	.	.	.	X	135	.	ENSP00000222803:R135X	R	-	1	2	FKBP14	30025211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.969000	0.40510	1.390000	0.46547	0.591000	0.81541	CGA		0.388	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946	
PLEKHA8	84725	broad.mit.edu	37	7	30092382	30092382	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30092382G>T	ENST00000449726.1	+	7	1046	c.696G>T	c.(694-696)gaG>gaT	p.E232D	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.E232D|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.E232D|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.E232D	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	232				E -> G (in Ref. 4; BAB14449). {ECO:0000305}.	ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.E232D(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAATGGTGAGGAAGAAATCC	0.313																																					p.E232D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G696T	7						.						28.0	29.0	29.0					7																	30092382		2193	4288	6481	30058907	SO:0001583	missense	84725	exon7			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.696G>T	7.37:g.30092382G>T	ENSP00000397947:p.Glu232Asp		30058907	NM_001197027	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	4.279	0.050893	0.08243	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.95	1.87	0.25490	.	1.008340	0.07958	N	0.981967	T	0.15219	0.0367	N	0.08118	0	0.20196	N	0.999923	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.31833	-0.9929	9	0.13470	T	0.59	-28.6246	1.7616	0.02993	0.1344:0.1666:0.1441:0.5548	.	232;232;232;232	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	D	232;232;232;232;258	.	ENSP00000258679:E232D	E	+	3	2	PLEKHA8	30058907	0.993000	0.37304	0.999000	0.59377	0.782000	0.44232	0.233000	0.17911	0.500000	0.27991	-0.266000	0.10368	GAG		0.313	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	
PLEKHA8	84725	broad.mit.edu	37	7	30094454	30094454	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30094454C>A	ENST00000449726.1	+	8	1276	c.926C>A	c.(925-927)cCa>cAa	p.P309Q	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.P309Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.P309Q|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.P309Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	309					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.P309Q(1)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GAAGTTATCCCAACTTTCTTT	0.403																																					p.P309Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926A	7						.						165.0	157.0	160.0					7																	30094454		2203	4300	6503	30060979	SO:0001583	missense	84725	exon8			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.926C>A	7.37:g.30094454C>A	ENSP00000397947:p.Pro309Gln		30060979	NM_001197027	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284475	0.23392	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.96	4.03	0.46877	Glycolipid transfer protein domain (1);	0.335640	0.32401	N	0.006146	T	0.23451	0.0567	N	0.03608	-0.345	0.33848	D	0.632255	B;B;B;B	0.19583	0.008;0.005;0.037;0.006	B;B;B;B	0.15052	0.007;0.002;0.012;0.001	T	0.21143	-1.0254	9	0.42905	T	0.14	-14.8007	10.533	0.44988	0.1529:0.7135:0.1336:0.0	.	309;309;309;309	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	Q	309;309;309;309;335	.	ENSP00000258679:P309Q	P	+	2	0	PLEKHA8	30060979	0.858000	0.29795	1.000000	0.80357	0.984000	0.73092	1.672000	0.37523	2.830000	0.97506	0.655000	0.94253	CCA		0.403	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639	
NOD1	10392	broad.mit.edu	37	7	30492330	30492330	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30492330G>A	ENST00000222823.4	-	6	1228	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	235	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.R235C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ATGCGGCAGCGAAAGTGGAAG	0.607																																					p.R235C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703T	7						.						70.0	75.0	73.0					7																	30492330		2203	4300	6503	30458855	SO:0001583	missense	10392	exon6			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.703C>T	7.37:g.30492330G>A	ENSP00000222823:p.Arg235Cys		30458855	NM_006092	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457232	0.43634	.	.	ENSG00000106100	ENST00000222823	T	0.78003	-1.14	5.64	4.75	0.60458	NACHT nucleoside triphosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87415	0.2378	10	0.56958	D	0.05	.	10.7004	0.45924	0.0:0.1431:0.7083:0.1486	.	235	Q9Y239	NOD1_HUMAN	C	235	ENSP00000222823:R235C	ENSP00000222823:R235C	R	-	1	0	NOD1	30458855	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	3.862000	0.56009	1.350000	0.45770	0.655000	0.94253	CGC		0.607	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
CRHR2	1395	broad.mit.edu	37	7	30693116	30693116	+	Missense_Mutation	SNP	C	C	T	rs143322026		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30693116C>T	ENST00000471646.1	-	12	1613	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	CRHR2_ENST00000341843.4_Missense_Mutation_p.R385Q|CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R426Q	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	399					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R399Q(2)|p.R399L(1)|p.R385L(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAGCTGATCCGTGTGGGTGA	0.642																																					p.R399Q												.	.	4	Substitution - Missense(4)	lung(2)|large_intestine(1)|skin(1)	c.G1196A	7						.						180.0	162.0	168.0					7																	30693116		2203	4300	6503	30659641	SO:0001583	missense	1395	exon12				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1196G>A	7.37:g.30693116C>T	ENSP00000418722:p.Arg399Gln		30659641	NM_001883	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956674	0.92726	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.44482	0.92;1.07;0.94	4.45	3.56	0.40772	.	0.050721	0.64402	D	0.000001	T	0.55593	0.1930	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.992;0.996	P;P;P;P	0.62491	0.716;0.903;0.723;0.716	T	0.53858	-0.8379	10	0.37606	T	0.19	.	10.868	0.46866	0.0:0.9042:0.0:0.0958	.	398;426;385;399	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	Q	399;426;385	ENSP00000418722:R399Q;ENSP00000340943:R426Q;ENSP00000344304:R385Q	ENSP00000344304:R385Q	R	-	2	0	CRHR2	30659641	0.423000	0.25482	0.643000	0.29450	0.892000	0.51952	4.938000	0.63519	1.008000	0.39264	0.461000	0.40582	CGG		0.642	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		
CRHR2	1395	broad.mit.edu	37	7	30694688	30694688	+	Silent	SNP	G	G	A	rs552742156		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30694688G>A	ENST00000471646.1	-	11	1479	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	CRHR2_ENST00000341843.4_Silent_p.F340F|CRHR2_ENST00000506074.2_Silent_p.F354F|CRHR2_ENST00000348438.4_Silent_p.F381F	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	354					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.F354F(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACAGACACGAAGAAACCCT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17415	0.0		0.0	False		,,,				2504	0.0				p.F354F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	7						.						78.0	67.0	71.0					7																	30694688		2203	4300	6503	30661213	SO:0001819	synonymous_variant	1395	exon11				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1062C>T	7.37:g.30694688G>A			30661213	NM_001883	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.602	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3		
INMT	11185	broad.mit.edu	37	7	30793369	30793369	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30793369G>T	ENST00000013222.5	+	2	193	c.177G>T	c.(175-177)ctG>ctT	p.L59L	INMT-FAM188B_ENST00000458257.1_Silent_p.L58L|INMT_ENST00000409539.1_Silent_p.L58L|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	59					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.L59L(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGACACGCTGATTGACATTG	0.542																																					p.L59L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G177T	7						.						279.0	257.0	264.0					7																	30793369		2203	4300	6503	30759894	SO:0001819	synonymous_variant	11185	exon2				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.177G>T	7.37:g.30793369G>T			30759894	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																				0.542	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774	
INMT	11185	broad.mit.edu	37	7	30793498	30793498	+	Silent	SNP	G	G	A	rs147050778		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:30793498G>A	ENST00000013222.5	+	2	322	c.306G>A	c.(304-306)ccG>ccA	p.P102P	INMT-FAM188B_ENST00000458257.1_Silent_p.P101P|INMT_ENST00000409539.1_Silent_p.P101P|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	102					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.P102P(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						AGAAGGAGCCGGGGGCCTATG	0.572																																					p.P102P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	7						.	G	,	0,4406		0,0,2203	90.0	99.0	96.0		303,306	-7.4	0.2	7	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	INMT	NM_001199219.1,NM_006774.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	101/263,102/264	30793498	1,13005	2203	4300	6503	30760023	SO:0001819	synonymous_variant	11185	exon2				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.306G>A	7.37:g.30793498G>A			30760023	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	CCDS5430.1																																																																																				0.572	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774	
ADCYAP1R1	117	broad.mit.edu	37	7	31123784	31123784	+	Silent	SNP	G	G	A	rs375886816		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:31123784G>A	ENST00000304166.4	+	7	646	c.357G>A	c.(355-357)acG>acA	p.T119T	ADCYAP1R1_ENST00000409489.1_Silent_p.T119T|ADCYAP1R1_ENST00000409363.1_Silent_p.T98T|ADCYAP1R1_ENST00000396211.2_Silent_p.T119T	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	119					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.T119T(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGAACTGCACGGAGGATGGCT	0.498																																					p.T119T	Ovarian(44;225 1186 2158 11092)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357A	7						.	G	,,,	0,4406		0,0,2203	173.0	166.0	169.0		357,357,357,294	-11.3	0.0	7		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADCYAP1R1	NM_001118.4,NM_001199635.1,NM_001199636.1,NM_001199637.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	119/469,119/497,119/496,98/448	31123784	1,13005	2203	4300	6503	31090309	SO:0001819	synonymous_variant	117	exon7				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.357G>A	7.37:g.31123784G>A			31090309	NM_001199636	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	CCDS5433.1																																																																																				0.498	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	
CCDC129	223075	broad.mit.edu	37	7	31617622	31617622	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:31617622G>T	ENST00000407970.3	+	8	782	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CCDC129_ENST00000451887.2_Missense_Mutation_p.E274D|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.E156D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	248								p.E248D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCGCCAAAGAGCATCGAAGAA	0.488																																					p.E248D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G744T	7						.						73.0	66.0	68.0					7																	31617622		2203	4300	6503	31584147	SO:0001583	missense	223075	exon8			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.744G>T	7.37:g.31617622G>T	ENSP00000384416:p.Glu248Asp		31584147	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622743	0.28889	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.19250	2.42;2.41;2.16	5.38	-2.93	0.05598	.	.	.	.	.	T	0.18002	0.0432	M	0.61703	1.905	0.09310	N	1	B;B;B	0.32653	0.037;0.379;0.379	B;B;B	0.28553	0.012;0.091;0.091	T	0.18335	-1.0340	8	.	.	.	-17.6219	9.0103	0.36137	0.672:0.1312:0.1968:0.0	.	274;258;248	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	D	248;274;258;156	ENSP00000384416:E248D;ENSP00000395835:E274D;ENSP00000387214:E156D	.	E	+	3	2	CCDC129	31584147	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.319000	0.02702	-0.398000	0.07679	-0.136000	0.14681	GAG		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
CCDC129	223075	broad.mit.edu	37	7	31682786	31682786	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:31682786G>T	ENST00000407970.3	+	11	1840	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	CCDC129_ENST00000451887.2_Missense_Mutation_p.G627V|CCDC129_ENST00000319386.3_Missense_Mutation_p.G453V|CCDC129_ENST00000409210.1_Missense_Mutation_p.G509V	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	601								p.G601V(1)|p.G453V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTCACCTGGAAATGATCAT	0.488																																					p.G601V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1802T	7						.						128.0	129.0	128.0					7																	31682786		2203	4300	6503	31649311	SO:0001583	missense	223075	exon11			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1802G>T	7.37:g.31682786G>T	ENSP00000384416:p.Gly601Val		31649311	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893069	0.52121	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19938	2.11;2.38;2.38;2.12	6.02	3.24	0.37175	.	0.729121	0.12823	N	0.436311	T	0.40247	0.1109	M	0.67953	2.075	0.09310	N	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.996	D;D;D;D	0.68192	0.956;0.956;0.956;0.931	T	0.12915	-1.0529	10	0.48119	T	0.1	-27.4258	8.4062	0.32616	0.2439:0.0:0.7561:0.0	.	627;611;601;453	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	V	453;601;627;611;509	ENSP00000313062:G453V;ENSP00000384416:G601V;ENSP00000395835:G627V;ENSP00000387214:G509V	ENSP00000313062:G453V	G	+	2	0	CCDC129	31649311	0.000000	0.05858	0.003000	0.11579	0.189000	0.23516	0.065000	0.14466	0.427000	0.26145	0.655000	0.94253	GGA		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
CCDC129	223075	broad.mit.edu	37	7	31691556	31691556	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:31691556G>T	ENST00000407970.3	+	13	2753	c.2715G>T	c.(2713-2715)gaG>gaT	p.E905D	CCDC129_ENST00000451887.2_Missense_Mutation_p.E931D|CCDC129_ENST00000319386.3_Missense_Mutation_p.E757D|CCDC129_ENST00000409210.1_Missense_Mutation_p.E813D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	905								p.E905D(1)|p.E757D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTGCAGGGAGGAGGCCGAGC	0.453																																					p.E905D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2715T	7						.						58.0	53.0	54.0					7																	31691556		2203	4299	6502	31658081	SO:0001583	missense	223075	exon13			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2715G>T	7.37:g.31691556G>T	ENSP00000384416:p.Glu905Asp		31658081	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588365	0.46110	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.21	2.13	0.27403	.	0.252828	0.28006	N	0.016967	T	0.42314	0.1197	M	0.71581	2.175	0.26791	N	0.969395	D;D;D;D	0.60575	0.986;0.987;0.987;0.988	P;P;P;P	0.57009	0.737;0.811;0.811;0.794	T	0.27157	-1.0082	10	0.51188	T	0.08	-4.7803	6.482	0.22067	0.3653:0.0:0.6347:0.0	.	931;915;905;757	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	D	757;905;931;915;813	ENSP00000313062:E757D;ENSP00000384416:E905D;ENSP00000395835:E931D;ENSP00000387214:E813D	ENSP00000313062:E757D	E	+	3	2	CCDC129	31658081	1.000000	0.71417	0.998000	0.56505	0.299000	0.27559	0.665000	0.25083	0.112000	0.17975	-0.367000	0.07326	GAG		0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
PDE1C	5137	broad.mit.edu	37	7	31862779	31862779	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:31862779G>T	ENST00000396191.1	-	14	1945	c.1490C>A	c.(1489-1491)tCt>tAt	p.S497Y	PDE1C_ENST00000396193.1_Missense_Mutation_p.S557Y|PDE1C_ENST00000321453.7_Missense_Mutation_p.S497Y|PDE1C_ENST00000396184.3_Missense_Mutation_p.S497Y|PDE1C_ENST00000396182.2_Missense_Mutation_p.S497Y|PDE1C_ENST00000479980.1_5'Flank	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	497	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.S497Y(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GGAGATGACAGAATTGTTGAT	0.468																																					p.S497Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1490A	7						.						138.0	121.0	126.0					7																	31862779		2203	4300	6503	31829304	SO:0001583	missense	5137	exon14			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1490C>A	7.37:g.31862779G>T	ENSP00000379494:p.Ser497Tyr		31829304	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365021	0.61513	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.75154	-0.89;-0.91;-0.91;-0.86;-0.86	5.91	5.0	0.66597	.	0.791890	0.12092	N	0.500306	T	0.80221	0.4583	L	0.34521	1.04	0.52501	D	0.99995	D;P;P	0.54397	0.966;0.89;0.929	D;P;P	0.64237	0.923;0.823;0.624	T	0.79427	-0.1808	10	0.87932	D	0	.	16.1278	0.81406	0.0:0.0:0.8657:0.1343	.	497;557;497	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	Y	557;497;497;497;497	ENSP00000379496:S557Y;ENSP00000379494:S497Y;ENSP00000318105:S497Y;ENSP00000379487:S497Y;ENSP00000379485:S497Y	ENSP00000318105:S497Y	S	-	2	0	PDE1C	31829304	1.000000	0.71417	0.751000	0.31187	0.220000	0.24768	4.915000	0.63355	2.808000	0.96608	0.655000	0.94253	TCT		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
AVL9	23080	broad.mit.edu	37	7	32591904	32591904	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:32591904C>A	ENST00000318709.4	+	6	747	c.526C>A	c.(526-528)Ctt>Att	p.L176I	AVL9_ENST00000404479.1_Missense_Mutation_p.L176I|AVL9_ENST00000409301.1_Missense_Mutation_p.L176I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	176					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.L176I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCAAGTATATCTTGGTAAGTA	0.318																																					p.L176I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C526A	7						.						45.0	47.0	46.0					7																	32591904		2203	4296	6499	32558429	SO:0001583	missense	23080	exon6			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.526C>A	7.37:g.32591904C>A	ENSP00000315568:p.Leu176Ile		32558429	NM_015060	Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123306	0.56613	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	L	0.52126	1.63	0.80722	D	1	D;B;D	0.89917	1.0;0.34;0.957	D;B;P	0.87578	0.998;0.155;0.545	T	0.54430	-0.8295	9	.	.	.	2.0499	20.1057	0.97893	0.0:1.0:0.0:0.0	.	176;176;176	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	176;176;176;176;107	ENSP00000315568:L176I;ENSP00000387011:L176I;ENSP00000385242:L176I;ENSP00000395134:L107I	.	L	+	1	0	AVL9	32558429	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.262000	0.78410	2.827000	0.97445	0.650000	0.86243	CTT		0.318	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
KBTBD2	25948	broad.mit.edu	37	7	32909951	32909951	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:32909951T>C	ENST00000304056.4	-	4	1577	c.878A>G	c.(877-879)gAa>gGa	p.E293G	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	293								p.E293G(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GTAAACTTTTTCTGCTTGGGG	0.408																																					p.E293G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	7						.						93.0	86.0	88.0					7																	32909951		2203	4300	6503	32876476	SO:0001583	missense	25948	exon4			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.878A>G	7.37:g.32909951T>C	ENSP00000302586:p.Glu293Gly		32876476	NM_015483	A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	T	7.573	0.667106	0.14710	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.63255	-0.03	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	N	0.11364	0.135	0.58432	D	0.999999	B	0.12630	0.006	B	0.09377	0.004	T	0.34675	-0.9819	10	0.17369	T	0.5	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	293	Q8IY47	KBTB2_HUMAN	G	293;100	ENSP00000302586:E293G	ENSP00000302586:E293G	E	-	2	0	KBTBD2	32876476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.249000	0.72427	2.317000	0.78254	0.459000	0.35465	GAA		0.408	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224	
FKBP9	11328	broad.mit.edu	37	7	33042434	33042434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:33042434G>T	ENST00000242209.4	+	9	1688	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	FKBP9_ENST00000538443.1_Nonsense_Mutation_p.E369*|AVL9_ENST00000404479.1_Intron|RNU6-388P_ENST00000517012.1_RNA|FKBP9_ENST00000490776.2_Nonsense_Mutation_p.E275*|FKBP9_ENST00000538336.1_Nonsense_Mutation_p.E560*	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	507	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.E507*(1)|p.E275*(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGGCAACGGAGAAGTCCTCCT	0.552																																					p.E507X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1519T	7						.						94.0	68.0	77.0					7																	33042434		2203	4300	6503	33008959	SO:0001587	stop_gained	11328	exon9			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1519G>T	7.37:g.33042434G>T	ENSP00000242209:p.Glu507*		33008959	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Nonsense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	39	7.721551	0.98453	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	.	.	.	4.8	4.8	0.61643	.	0.176270	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-13.2163	17.8793	0.88835	0.0:0.0:1.0:0.0	.	.	.	.	X	507;560;369;275	.	ENSP00000242209:E507X	E	+	1	0	FKBP9	33008959	0.999000	0.42202	0.997000	0.53966	0.984000	0.73092	1.580000	0.36547	2.228000	0.72767	0.555000	0.69702	GAA		0.552	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
NPSR1	387129	broad.mit.edu	37	7	34874019	34874019	+	Missense_Mutation	SNP	G	G	A	rs116249859	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:34874019G>A	ENST00000360581.1	+	6	832	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	NPSR1_ENST00000381542.1_Missense_Mutation_p.R169Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R235Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R235Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.R224Q	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	235						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.R235Q(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATTGTGATCCGAACTATTTGG	0.438													G|||	4	0.000798722	0.0	0.0	5008	,	,		21671	0.004		0.0	False		,,,				2504	0.0				p.R235Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G704A	7						.						197.0	169.0	179.0					7																	34874019		2203	4300	6503	34840544	SO:0001583	missense	387129	exon6			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.704G>A	7.37:g.34874019G>A	ENSP00000353788:p.Arg235Gln		34840544	NM_207172	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	CCDS5444.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	21.6	4.168595	0.78339	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.75	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.193094	0.29260	N	0.012678	T	0.56572	0.1994	M	0.64080	1.96	0.40488	D	0.980513	D;D;D;P;D;P	0.89917	1.0;1.0;1.0;0.892;1.0;0.911	D;P;D;P;P;P	0.66716	0.946;0.801;0.91;0.474;0.801;0.541	T	0.55405	-0.8146	10	0.31617	T	0.26	-5.4177	11.8755	0.52544	0.0859:0.0:0.9141:0.0	.	169;224;169;235;235;235	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	Q	235;169;235;224;235	ENSP00000353788:R235Q;ENSP00000370953:R169Q;ENSP00000352839:R235Q;ENSP00000433258:R224Q;ENSP00000370950:R235Q	ENSP00000352839:R235Q	R	+	2	0	NPSR1	34840544	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.383000	0.44354	1.212000	0.43366	0.555000	0.69702	CGA		0.438	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173	
DPY19L1	23333	broad.mit.edu	37	7	34985293	34985293	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:34985293T>A	ENST00000310974.4	-	16	1455	c.1311A>T	c.(1309-1311)caA>caT	p.Q437H		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	437						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.Q437H(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CATGTGTCTGTTGTTTAGCTA	0.264																																					p.Q437H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1311T	7						.						52.0	49.0	50.0					7																	34985293		1795	4045	5840	34951818	SO:0001583	missense	23333	exon16			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1311A>T	7.37:g.34985293T>A	ENSP00000308695:p.Gln437His		34951818	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102479	0.56183	.	.	ENSG00000173852	ENST00000310974	T	0.55588	0.51	5.37	-5.47	0.02600	.	1.181040	0.05974	N	0.642855	T	0.29491	0.0735	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29549	-1.0008	10	0.49607	T	0.09	-1.5431	9.5252	0.39160	0.1396:0.6328:0.0:0.2276	.	437	Q2PZI1	D19L1_HUMAN	H	437	ENSP00000308695:Q437H	ENSP00000308695:Q437H	Q	-	3	2	DPY19L1	34951818	0.887000	0.30362	0.424000	0.26647	0.989000	0.77384	-0.592000	0.05747	-0.844000	0.04184	0.482000	0.46254	CAA		0.264	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
DPY19L1	23333	broad.mit.edu	37	7	34989478	34989478	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:34989478G>T	ENST00000310974.4	-	14	1278	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	378						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F378L(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TATAACTAAAGAATTTTGATG	0.294																																					p.F378L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1134A	7						.						35.0	33.0	34.0					7																	34989478		1800	4058	5858	34956003	SO:0001583	missense	23333	exon14			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1134C>A	7.37:g.34989478G>T	ENSP00000308695:p.Phe378Leu		34956003	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137422	0.37728	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.54279	0.58;0.58	5.09	5.09	0.68999	.	0.048832	0.85682	D	0.000000	T	0.59649	0.2209	L	0.49571	1.57	0.53005	D	0.999961	D	0.57257	0.979	D	0.74023	0.982	T	0.55211	-0.8176	10	0.14656	T	0.56	-18.1179	7.7651	0.28976	0.1814:0.0:0.8186:0.0	.	378	Q2PZI1	D19L1_HUMAN	L	378;148	ENSP00000308695:F378L;ENSP00000400510:F148L	ENSP00000308695:F378L	F	-	3	2	DPY19L1	34956003	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.226000	0.51254	2.508000	0.84585	0.591000	0.81541	TTC		0.294	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
HERPUD2	64224	broad.mit.edu	37	7	35712883	35712883	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:35712883C>T	ENST00000396081.1	-	2	957	c.153G>A	c.(151-153)acG>acA	p.T51T	HERPUD2_ENST00000311350.3_Silent_p.T51T	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	51	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T51T(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCTGATCCTTCGTCAACTAAG	0.373																																					p.T51T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G153A	7						.						99.0	96.0	97.0					7																	35712883		2203	4300	6503	35679408	SO:0001819	synonymous_variant	64224	exon3			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.153G>A	7.37:g.35712883C>T			35679408	NM_022373	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.373	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
EEPD1	80820	broad.mit.edu	37	7	36194158	36194158	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36194158G>T	ENST00000242108.4	+	2	943	c.225G>T	c.(223-225)aaG>aaT	p.K75N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K75N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	75					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.K75N(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GTGGCTTCAAGAAGGTGGAGG	0.602																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	7						.						95.0	93.0	94.0					7																	36194158		2203	4300	6503	36160683	SO:0001583	missense	80820	exon2			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.225G>T	7.37:g.36194158G>T	ENSP00000242108:p.Lys75Asn		36160683	NM_030636	Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263072	0.59431	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.26067	1.76;1.76	5.68	2.88	0.33553	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);	0.114193	0.64402	D	0.000013	T	0.37046	0.0989	L	0.39692	1.235	0.50171	D	0.999857	D	0.71674	0.998	D	0.69824	0.966	T	0.04191	-1.0970	10	0.59425	D	0.04	-34.1453	9.5317	0.39198	0.2731:0.0:0.7269:0.0	.	75	Q7L9B9	EEPD1_HUMAN	N	75	ENSP00000242108:K75N;ENSP00000442692:K75N	ENSP00000242108:K75N	K	+	3	2	EEPD1	36160683	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.828000	0.39111	0.327000	0.23409	-0.258000	0.10820	AAG		0.602	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636	
KIAA0895	23366	broad.mit.edu	37	7	36373755	36373755	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36373755C>T	ENST00000297063.6	-	5	1066	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R336Q|KIAA0895_ENST00000317020.6_Missense_Mutation_p.R288Q|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R326Q|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R94Q|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R236Q	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	339								p.R339Q(1)|p.R326Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTTAATACCTCGAAAATAATG	0.383																																					p.R339Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1016A	7						.						127.0	112.0	116.0					7																	36373755		1884	4111	5995	36340280	SO:0001583	missense	23366	exon5			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1016G>A	7.37:g.36373755C>T	ENSP00000297063:p.Arg339Gln		36340280	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408539	0.96051	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212;ENST00000431396	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.997	D	0.85736	0.1334	9	0.72032	D	0.01	-19.495	18.1516	0.89676	0.0:1.0:0.0:0.0	.	336;236;339;326;288	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	Q	339;326;288;336;236;94;94	.	ENSP00000297063:R339Q	R	-	2	0	KIAA0895	36340280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.391000	0.79828	2.371000	0.80710	0.650000	0.86243	CGA		0.383	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
KIAA0895	23366	broad.mit.edu	37	7	36396676	36396676	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36396676C>A	ENST00000297063.6	-	3	752	c.702G>T	c.(700-702)aaG>aaT	p.K234N	KIAA0895_ENST00000415803.2_Missense_Mutation_p.K221N|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.K183N|KIAA0895_ENST00000317020.6_Missense_Mutation_p.K183N|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K221N|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_Missense_Mutation_p.K83N	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	234								p.K234N(1)|p.K221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TACAAAATTTCTTCCCAGAAA	0.393																																					p.K234N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G702T	7						.						99.0	93.0	95.0					7																	36396676		1830	4088	5918	36363201	SO:0001583	missense	23366	exon3			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.702G>T	7.37:g.36396676C>A	ENSP00000297063:p.Lys234Asn		36363201	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.133850	0.56828	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803;ENST00000429651	.	.	.	5.65	2.37	0.29283	.	0.192719	0.51477	D	0.000100	T	0.66509	0.2796	L	0.57536	1.79	0.45239	D	0.998247	D;P;P;D;D;D;D	0.69078	0.976;0.835;0.954;0.997;0.973;0.98;0.96	P;B;P;D;P;P;P	0.65874	0.743;0.443;0.478;0.939;0.544;0.663;0.663	T	0.64575	-0.6375	9	0.87932	D	0	-19.6699	8.1868	0.31343	0.0:0.7042:0.1217:0.1741	.	183;183;83;221;234;221;183	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	N	234;221;183;183;83;221;101	.	ENSP00000297063:K234N	K	-	3	2	KIAA0895	36363201	0.988000	0.35896	0.998000	0.56505	0.983000	0.72400	0.642000	0.24735	0.170000	0.19704	-0.253000	0.11424	AAG		0.393	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
KIAA0895	23366	broad.mit.edu	37	7	36397083	36397083	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36397083C>A	ENST00000297063.6	-	3	345	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	KIAA0895_ENST00000415803.2_Missense_Mutation_p.D86Y|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D48Y|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D48Y|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D86Y|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_5'UTR	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	99								p.D86Y(1)|p.D99Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTGAAAATGTCTTTTAGCACT	0.378																																					p.D99Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G295T	7						.						120.0	103.0	108.0					7																	36397083		1864	4102	5966	36363608	SO:0001583	missense	23366	exon3			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.295G>T	7.37:g.36397083C>A	ENSP00000297063:p.Asp99Tyr		36363608	NM_001100425	B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630637	0.67015	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	5.78	5.78	0.91487	.	0.170688	0.64402	D	0.000007	T	0.75376	0.3841	L	0.54323	1.7	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.76708	-0.2860	9	0.87932	D	0	-29.9617	15.1295	0.72511	0.0:0.9309:0.0:0.0691	.	48;48;86;99;86;48	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	Y	99;86;48;48;86	.	ENSP00000297063:D99Y	D	-	1	0	KIAA0895	36363608	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.166000	0.58203	2.724000	0.93272	0.563000	0.77884	GAC		0.378	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	
ANLN	54443	broad.mit.edu	37	7	36478829	36478829	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36478829C>A	ENST00000265748.2	+	21	3121	c.2900C>A	c.(2899-2901)tCt>tAt	p.S967Y	ANLN_ENST00000396068.2_Missense_Mutation_p.S930Y	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	967	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.S967Y(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTTTATCTTCTTTGGAAGGT	0.299																																					p.S967Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2900A	7						.						108.0	108.0	108.0					7																	36478829		2202	4297	6499	36445354	SO:0001583	missense	54443	exon21			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2900C>A	7.37:g.36478829C>A	ENSP00000265748:p.Ser967Tyr		36445354	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.80|15.80|15.80	2.940600|2.940600|2.940600	0.52972|0.52972|0.52972	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000457743|ENST00000265748;ENST00000396068	.|.|T;T	.|.|0.11821	.|.|2.74;2.74	5.22|5.22|5.22	5.22|5.22|5.22	0.72569|0.72569|0.72569	.|.|.	.|.|0.204155	.|.|0.52532	.|.|D	.|.|0.000061	T|T|T	0.10165|0.10165|0.10165	0.0249|0.0249|0.0249	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.27636|0.27636|0.27636	N|N|N	0.947882|0.947882|0.947882	.|.|B;B;B;B	.|.|0.29270	.|.|0.13;0.155;0.24;0.155	.|.|B;B;B;B	.|.|0.32393	.|.|0.081;0.069;0.145;0.069	T|T|T	0.25328|0.25328|0.25328	-1.0135|-1.0135|-1.0135	5|5|10	.|.|0.87932	.|.|D	.|.|0	-0.3251|-0.3251|-0.3251	17.6987|17.6987|17.6987	0.88289|0.88289|0.88289	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|844;929;930;967	.|.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.|.|.;.;.;ANLN_HUMAN	L|I|Y	131|189|967;930	.|.|ENSP00000265748:S967Y;ENSP00000379380:S930Y	.|.|ENSP00000265748:S967Y	F|L|S	+|+|+	3|1|2	2|0|0	ANLN|ANLN|ANLN	36445354|36445354|36445354	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.991000|0.991000|0.991000	0.47740|0.47740|0.47740	0.903000|0.903000|0.903000	0.53119|0.53119|0.53119	5.215000|5.215000|5.215000	0.65241|0.65241|0.65241	2.578000|2.578000|2.578000	0.87016|0.87016|0.87016	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTT|TCT		0.299	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
AOAH	313	broad.mit.edu	37	7	36671659	36671659	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36671659G>T	ENST00000258749.5	-	6	903	c.504C>A	c.(502-504)atC>atA	p.I168I	AOAH_ENST00000431169.1_Silent_p.I168I|AOAH_ENST00000535891.1_Silent_p.I136I	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	168					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.I168I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTTCTGGCAGATCTTGGCCA	0.358																																					p.I168I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504A	7						.						53.0	55.0	54.0					7																	36671659		2203	4300	6503	36638184	SO:0001819	synonymous_variant	313	exon6			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.504C>A	7.37:g.36671659G>T			36638184	NM_001637	A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	CCDS5448.1																																																																																				0.358	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
ELMO1	9844	broad.mit.edu	37	7	36917663	36917663	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:36917663C>T	ENST00000310758.4	-	19	2421	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ELMO1_ENST00000396040.2_Missense_Mutation_p.E112K|ELMO1_ENST00000341056.3_Missense_Mutation_p.E294K|ELMO1_ENST00000396045.3_Missense_Mutation_p.E112K|ELMO1_ENST00000442504.1_Missense_Mutation_p.E592K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E592K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	592	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.E592K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGACTCTCTTCTAAGTCTCCG	0.478																																					p.E112K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	7						.						97.0	85.0	89.0					7																	36917663		2203	4300	6503	36884188	SO:0001583	missense	9844	exon4			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1774G>A	7.37:g.36917663C>T	ENSP00000312185:p.Glu592Lys		36884188	NM_001039459	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900058	0.92035	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	M	0.82517	2.595	0.80722	D	1	P	0.37466	0.596	B	0.26969	0.075	T	0.57382	-0.7821	10	0.39692	T	0.17	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	592	Q92556	ELMO1_HUMAN	K	294;112;592;496;112;592;592	ENSP00000342142:E294K;ENSP00000379360:E112K;ENSP00000312185:E592K;ENSP00000379355:E112K;ENSP00000406952:E592K;ENSP00000394458:E592K	ENSP00000312185:E592K	E	-	1	0	ELMO1	36884188	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.399000	0.79935	2.756000	0.94617	0.655000	0.94253	GAA		0.478	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
TRGC1	6966	broad.mit.edu	37	7	38304975	38304975	+	RNA	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:38304975T>G	ENST00000443402.2	-	0	304					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GAAAGATAATTTCTTGATCAA	0.353																																					p.E40D												.	.	0			c.A120C	7						.						132.0	124.0	127.0					7																	38304975		1837	4095	5932	38271500			445347	exon2			M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38304975T>G			38271500	NM_001003806		Missense_Mutation	SNP	ENST00000443402.2	37																																																																																					0.353	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336	
AMPH	273	broad.mit.edu	37	7	38433672	38433672	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:38433672G>T	ENST00000356264.2	-	18	1756	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N	AMPH_ENST00000428293.2_Missense_Mutation_p.T472N|AMPH_ENST00000325590.5_Missense_Mutation_p.T472N|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	514					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.T514N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGTTTCAGTTCCAATTTT	0.602																																					p.T472N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1415A	7						.						167.0	144.0	152.0					7																	38433672		2203	4300	6503	38400197	SO:0001583	missense	273	exon17				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1541C>A	7.37:g.38433672G>T	ENSP00000348602:p.Thr514Asn		38400197	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.039|9.039	0.989163|0.989163	0.18966|0.18966	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000441628|ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242	.|T;T;T	.|0.60672	.|0.18;0.25;0.17	5.93|5.93	-0.261|-0.261	0.12963|0.12963	.|.	.|1.069620	.|0.07195	.|N	.|0.856379	T|T	0.33760|0.33760	0.0874|0.0874	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.27882	.|0.051;0.001;0.002;0.192	.|B;B;B;B	.|0.22880	.|0.042;0.002;0.001;0.017	T|T	0.13282|0.13282	-1.0515|-1.0515	5|10	.|0.13108	.|T	.|0.6	0.2458|0.2458	1.6019|1.6019	0.02675|0.02675	0.2237:0.2599:0.3825:0.1339|0.2237:0.2599:0.3825:0.1339	.|.	.|560;472;514;402	.|Q8NFL6;P49418-2;P49418;Q8NFL4	.|.;.;AMPH_HUMAN;.	K|N	396|472;514;472;416	.|ENSP00000317441:T472N;ENSP00000348602:T514N;ENSP00000390734:T472N	.|ENSP00000317441:T472N	N|T	-|-	3|2	2|0	AMPH|AMPH	38400197|38400197	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	0.745000|0.745000	0.26259|0.26259	-0.337000|-0.337000	0.08426|0.08426	-0.300000|-0.300000	0.09419|0.09419	AAC|ACT		0.602	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
POU6F2	11281	broad.mit.edu	37	7	39125630	39125630	+	Splice_Site	SNP	C	C	T	rs530262963	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:39125630C>T	ENST00000403058.1	+	3	343	c.189C>T	c.(187-189)ttC>ttT	p.F63F	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Splice_Site_p.F63F|POU6F2_ENST00000464276.2_Splice_Site_p.F55F|POU6F2_ENST00000559001.1_Splice_Site_p.F55F	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507													C|||	7	0.00139776	0.0	0.0	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0072				p.F63F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189T	7						.						90.0	78.0	82.0					7																	39125630		2203	4300	6503	39092155	SO:0001630	splice_region_variant	11281	exon3			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.190+1C>T	7.37:g.39125630C>T			39092155	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	CCDS34620.2																																																																																				0.507	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	Silent
POU6F2	11281	broad.mit.edu	37	7	39379257	39379257	+	Missense_Mutation	SNP	C	C	A	rs147178262		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:39379257C>A	ENST00000403058.1	+	6	682	c.528C>A	c.(526-528)aaC>aaA	p.N176K	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.N176K|POU6F2_ENST00000559001.1_Missense_Mutation_p.N168K	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	176	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N176K(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCCCTGAACTCCCAGCTCc	0.587																																					p.N176K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C528A	7						.						24.0	23.0	23.0					7																	39379257		2164	4255	6419	39345782	SO:0001583	missense	11281	exon6			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.528C>A	7.37:g.39379257C>A	ENSP00000384004:p.Asn176Lys		39345782	NM_007252	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420953	0.42918	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.86230	0.97;-2.09	4.81	3.79	0.43588	.	1.437400	0.05624	U	0.580404	D	0.88503	0.6454	L	0.39898	1.24	0.32267	N	0.569393	D;P	0.60160	0.987;0.608	P;B	0.58077	0.832;0.079	T	0.82434	-0.0459	10	0.72032	D	0.01	.	6.5853	0.22616	0.0:0.7016:0.0:0.2984	.	176;176	P78424-2;P78424	.;PO6F2_HUMAN	K	176	ENSP00000384004:N176K;ENSP00000430514:N176K	ENSP00000384004:N176K	N	+	3	2	POU6F2	39345782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.200000	0.70718	0.557000	0.71058	AAC		0.587	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252	
RALA	5898	broad.mit.edu	37	7	39745749	39745749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:39745749C>T	ENST00000005257.2	+	5	906	c.526C>T	c.(526-528)Cga>Tga	p.R176*	AC004837.5_ENST00000435766.1_RNA|RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	176					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R176*(2)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GAGAGAAATTCGAGCGAGAAA	0.318																																					p.R176X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)	c.C526T	7						.						57.0	62.0	60.0					7																	39745749		2202	4298	6500	39712274	SO:0001587	stop_gained	5898	exon5				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.526C>T	7.37:g.39745749C>T	ENSP00000005257:p.Arg176*		39712274	NM_005402	A4D1W3	Nonsense_Mutation	SNP	ENST00000005257.2	37	CCDS5460.1	.	.	.	.	.	.	.	.	.	.	C	37	6.625501	0.97714	.	.	ENSG00000006451	ENST00000005257	.	.	.	5.93	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3985	0.67027	0.2164:0.7836:0.0:0.0	.	.	.	.	X	176	.	ENSP00000005257:R176X	R	+	1	2	RALA	39712274	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.962000	0.56766	2.803000	0.96430	0.585000	0.79938	CGA		0.318	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250696.2	NM_005402	
INHBA	3624	broad.mit.edu	37	7	41729665	41729665	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:41729665C>T	ENST00000242208.4	-	3	1110	c.864G>A	c.(862-864)tcG>tcA	p.S288S	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.S288S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	288					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S288S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGGTCTGTGCGActgctcct	0.582										TSP Lung(11;0.080)																											p.S288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G864A	7						.						76.0	76.0	76.0					7																	41729665		2203	4300	6503	41696190	SO:0001819	synonymous_variant	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.864G>A	7.37:g.41729665C>T			41696190	NM_002192	Q14599	Silent	SNP	ENST00000242208.4	37	CCDS5464.1																																																																																				0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
INHBA	3624	broad.mit.edu	37	7	41729879	41729879	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:41729879G>A	ENST00000242208.4	-	3	896	c.650C>T	c.(649-651)aCc>aTc	p.T217I	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.T217I	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	217					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.T217S(1)|p.T217I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GACATGCCAGGTGCTCTTCCG	0.582										TSP Lung(11;0.080)																											p.T217I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C650T	7						.						62.0	57.0	59.0					7																	41729879		2203	4300	6503	41696404	SO:0001583	missense	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.650C>T	7.37:g.41729879G>A	ENSP00000242208:p.Thr217Ile		41696404	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.126255	0.77549	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.65916	-0.18;-0.18	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.155706	0.64402	D	0.000014	T	0.65004	0.2650	N	0.22421	0.69	0.43191	D	0.995022	D	0.63880	0.993	P	0.62560	0.904	T	0.60525	-0.7246	10	0.28530	T	0.3	-24.7588	16.0307	0.80574	0.0:0.1335:0.8665:0.0	.	217	P08476	INHBA_HUMAN	I	217	ENSP00000242208:T217I;ENSP00000397197:T217I	ENSP00000242208:T217I	T	-	2	0	INHBA	41696404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.911000	0.63328	2.882000	0.98803	0.655000	0.94253	ACC		0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GLI3	2737	broad.mit.edu	37	7	42005025	42005025	+	Missense_Mutation	SNP	G	G	T	rs112234184		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:42005025G>T	ENST00000395925.3	-	15	3730	c.3646C>A	c.(3646-3648)Ctc>Atc	p.L1216I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1216					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1216I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTCCCCGAGGGTCTGATAG	0.647									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.L1216I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3646A	7						.						49.0	57.0	54.0					7																	42005025		2203	4300	6503	41971550	SO:0001583	missense	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3646C>A	7.37:g.42005025G>T	ENSP00000379258:p.Leu1216Ile		41971550	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685715	0.68157	.	.	ENSG00000106571	ENST00000395925	T	0.14022	2.54	5.64	5.64	0.86602	.	0.295527	0.34314	N	0.004067	T	0.16385	0.0394	N	0.22421	0.69	0.80722	D	1	D	0.54964	0.969	P	0.49683	0.619	T	0.04930	-1.0917	10	0.21014	T	0.42	.	19.6945	0.96019	0.0:0.0:1.0:0.0	.	1216	P10071	GLI3_HUMAN	I	1216	ENSP00000379258:L1216I	ENSP00000379258:L1216I	L	-	1	0	GLI3	41971550	0.960000	0.32886	0.032000	0.17829	0.030000	0.12068	4.088000	0.57678	2.644000	0.89710	0.609000	0.83330	CTC		0.647	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	broad.mit.edu	37	7	42017211	42017211	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:42017211A>C	ENST00000395925.3	-	12	1842	c.1758T>G	c.(1756-1758)gcT>gcG	p.A586A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	586					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A586A(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CATTTGAGAAAGCCTTGTTGC	0.463									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A586A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1758G	7						.						252.0	206.0	222.0					7																	42017211		2203	4300	6503	41983736	SO:0001819	synonymous_variant	2737	exon12	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1758T>G	7.37:g.42017211A>C		905	41983736	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.463	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	broad.mit.edu	37	7	42079828	42079828	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:42079828G>T	ENST00000395925.3	-	7	921	c.837C>A	c.(835-837)ttC>ttA	p.F279L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	279					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F279L(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGGGCTGGAGAATCTGGTGC	0.463									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.F279L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C837A	7						.						112.0	107.0	109.0					7																	42079828		2203	4300	6503	42046353	SO:0001583	missense	2737	exon7	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.837C>A	7.37:g.42079828G>T	ENSP00000379258:p.Phe279Leu		42046353	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836019	0.71373	.	.	ENSG00000106571	ENST00000395925	T	0.69685	-0.42	5.96	-0.219	0.13135	.	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.43923	1.385	0.80722	D	1	P	0.51147	0.942	P	0.57057	0.812	T	0.60974	-0.7156	10	0.54805	T	0.06	.	5.616	0.17432	0.5319:0.1462:0.3219:0.0	.	279	P10071	GLI3_HUMAN	L	279	ENSP00000379258:F279L	ENSP00000379258:F279L	F	-	3	2	GLI3	42046353	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.852000	0.39348	0.103000	0.17682	0.655000	0.94253	TTC		0.463	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
C7orf25	79020	broad.mit.edu	37	7	42949774	42949774	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:42949774G>T	ENST00000350427.4	-	2	1001	c.726C>A	c.(724-726)gtC>gtA	p.V242V	C7orf25_ENST00000438029.1_Silent_p.V242V|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.V242V|C7orf25_ENST00000431882.2_Silent_p.V300V			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	242								p.V242V(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TGCACACATCGACCTTAATTT	0.413																																					p.V242V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726A	7						.						105.0	106.0	106.0					7																	42949774		2203	4300	6503	42916299	SO:0001819	synonymous_variant	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.726C>A	7.37:g.42949774G>T			42916299	NM_024054	A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	CCDS5466.1																																																																																				0.413	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
HECW1	23072	broad.mit.edu	37	7	43540370	43540370	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43540370C>A	ENST00000395891.2	+	20	4115	c.3510C>A	c.(3508-3510)gtC>gtA	p.V1170V	HECW1_ENST00000453890.1_Silent_p.V1136V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1170					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V1149V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGATCTGGTCATTTTGCTGA	0.498																																					p.V1170V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3510A	7						.						184.0	179.0	181.0					7																	43540370		1912	4133	6045	43506895	SO:0001819	synonymous_variant	23072	exon20			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3510C>A	7.37:g.43540370C>A			43506895	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.498	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
HECW1	23072	broad.mit.edu	37	7	43548598	43548598	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43548598C>A	ENST00000395891.2	+	24	4502	c.3897C>A	c.(3895-3897)ttC>ttA	p.F1299L	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.F1265L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1299	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F1278L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCGGGAGTTCTTCTTCCTTC	0.547																																					p.F1299L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3897A	7						.						138.0	135.0	136.0					7																	43548598		1886	4116	6002	43515123	SO:0001583	missense	23072	exon24			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3897C>A	7.37:g.43548598C>A	ENSP00000379228:p.Phe1299Leu		43515123	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791224	0.70452	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.51071	0.72;0.72	5.92	5.05	0.67936	HECT (3);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.86573	2.825	0.80722	D	1	B;P	0.50443	0.257;0.935	B;P	0.49361	0.117;0.608	T	0.72516	-0.4269	10	0.87932	D	0	.	14.9559	0.71113	0.0:0.9318:0.0:0.0682	.	1265;1299	B4DH42;Q76N89	.;HECW1_HUMAN	L	1299;1265;1299	ENSP00000379228:F1299L;ENSP00000407774:F1265L	ENSP00000265522:F1299L	F	+	3	2	HECW1	43515123	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	6.045000	0.71020	1.515000	0.48885	0.555000	0.69702	TTC		0.547	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
HECW1	23072	broad.mit.edu	37	7	43580825	43580825	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43580825C>T	ENST00000395891.2	+	25	4688	c.4083C>T	c.(4081-4083)ttC>ttT	p.F1361F	HECW1_ENST00000453890.1_Silent_p.F1327F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1361	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F1340F(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTGACGCTTTCTTCACGAGGC	0.542																																					p.F1361F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4083T	7						.						159.0	153.0	155.0					7																	43580825		2000	4169	6169	43547350	SO:0001819	synonymous_variant	23072	exon25			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4083C>T	7.37:g.43580825C>T			43547350	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394923	0.25205	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.76912	0.4054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74315	-0.3705	4	.	.	.	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	.	.	.	F	85	.	.	S	+	2	0	HECW1	43547350	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.759000	0.68785	2.757000	0.94681	0.563000	0.77884	TCT		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
HECW1	23072	broad.mit.edu	37	7	43581490	43581490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43581490G>T	ENST00000395891.2	+	26	4746	c.4141G>T	c.(4141-4143)Gaa>Taa	p.E1381*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.E1347*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1381	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1360*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAGTGACCTGGAATATTTGGA	0.418																																					p.E1381X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4141T	7						.						139.0	125.0	129.0					7																	43581490		1860	4122	5982	43548015	SO:0001587	stop_gained	23072	exon26			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4141G>T	7.37:g.43581490G>T	ENSP00000379228:p.Glu1381*		43548015	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	12.058539|12.058539	0.99631|0.99631	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522|ENST00000429529	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80330	.|0.4603	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|3	0.87932|.	D|.	0|.	.|.	20.3747|20.3747	0.98911|0.98911	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	1381;1347;1381|104	.|.	ENSP00000265522:E1381X|.	E|W	+|+	1|3	0|0	HECW1|HECW1	43548015|43548015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.467000|9.467000	0.97671|0.97671	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAA|TGG		0.418	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
STK17A	9263	broad.mit.edu	37	7	43663458	43663458	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43663458C>A	ENST00000319357.5	+	6	1070	c.891C>A	c.(889-891)ttC>ttA	p.F297L		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	297	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F297L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CTGTTGATTTCATCAGGACAC	0.269																																					p.F297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C891A	7						.						89.0	88.0	88.0					7																	43663458		2203	4295	6498	43629983	SO:0001583	missense	9263	exon6			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.891C>A	7.37:g.43663458C>A	ENSP00000319192:p.Phe297Leu		43629983	NM_004760	A4D1V6|Q8IVC8	Missense_Mutation	SNP	ENST00000319357.5	37	CCDS5470.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016875	0.54576	.	.	ENSG00000164543	ENST00000319357	T	0.59224	0.28	4.82	3.95	0.45737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000122	T	0.60881	0.2303	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60546	-0.7242	10	0.38643	T	0.18	.	13.3053	0.60349	0.0:0.9228:0.0:0.0772	.	297	Q9UEE5	ST17A_HUMAN	L	297	ENSP00000319192:F297L	ENSP00000319192:F297L	F	+	3	2	STK17A	43629983	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	3.608000	0.54109	0.999000	0.39023	-0.232000	0.12228	TTC		0.269	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760	
URGCP	55665	broad.mit.edu	37	7	43917434	43917434	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:43917434T>C	ENST00000453200.1	-	6	2121	c.1628A>G	c.(1627-1629)gAt>gGt	p.D543G	URGCP_ENST00000443736.1_Missense_Mutation_p.D500G|URGCP_ENST00000402306.3_Missense_Mutation_p.D534G|URGCP_ENST00000336086.6_Missense_Mutation_p.D500G|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.D500G|URGCP_ENST00000223341.7_Missense_Mutation_p.D500G|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	543					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D500G(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGAGGAGGGATCATGGCCGTT	0.632																																					p.D500G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1499G	7						.						38.0	43.0	41.0					7																	43917434		2028	4172	6200	43883959	SO:0001583	missense	55665	exon6				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1628A>G	7.37:g.43917434T>C	ENSP00000396918:p.Asp543Gly		43883959	NM_001077664	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	T	0.689	-0.795095	0.02862	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89	5.69	2.01	0.26516	.	0.562852	0.19228	N	0.119481	T	0.05777	0.0151	N	0.20574	0.59	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.003;0.003	T	0.39292	-0.9621	10	0.23891	T	0.37	-14.1427	5.3309	0.15932	0.0:0.1603:0.1514:0.6883	.	534;543	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	G	500;500;534;500;543;500	ENSP00000223341:D500G;ENSP00000336872:D500G;ENSP00000384955:D534G;ENSP00000392136:D500G;ENSP00000396918:D543G;ENSP00000402803:D500G	ENSP00000223341:D500G	D	-	2	0	URGCP	43883959	0.024000	0.19004	0.003000	0.11579	0.013000	0.08279	1.282000	0.33226	0.408000	0.25621	0.533000	0.62120	GAT		0.632	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
SPDYE1	285955	broad.mit.edu	37	7	44040655	44040655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44040655C>A	ENST00000258704.3	+	1	168	c.31C>A	c.(31-33)Ctt>Att	p.L11I	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	11								p.L11I(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GGCCTGGTTTCTTTACTCAGC	0.557																																					p.L11I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31A	7						.						2.0	2.0	2.0					7																	44040655		712	1551	2263	44007180	SO:0001583	missense	285955	exon1			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.31C>A	7.37:g.44040655C>A	ENSP00000258704:p.Leu11Ile		44007180	NM_175064	Q9NTH5	Missense_Mutation	SNP	ENST00000258704.3	37	CCDS5475.1	.	.	.	.	.	.	.	.	.	.	.	8.647	0.897231	0.17686	.	.	ENSG00000136206	ENST00000258704	.	.	.	.	.	.	.	.	.	.	.	T	0.20577	0.0495	L	0.36672	1.1	0.09310	N	1	P	0.35700	0.516	B	0.20384	0.029	T	0.09729	-1.0661	6	0.35671	T	0.21	.	.	.	.	.	11	Q8NFV5	SPDE1_HUMAN	I	11	.	ENSP00000258704:L11I	L	+	1	0	SPDYE1	44007180	0.960000	0.32886	0.394000	0.26270	0.363000	0.29612	0.633000	0.24598	0.400000	0.25396	0.399000	0.26434	CTT		0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064	
PGAM2	5224	broad.mit.edu	37	7	44104787	44104787	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44104787G>T	ENST00000297283.3	-	1	399	c.342C>A	c.(340-342)atC>atA	p.I114I	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	114				KI -> RS (in Ref. 3; AAA60072). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)	p.I114I(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						AGCGCCTCCAGATCTTCACCT	0.627																																					p.I114I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C342A	7						.						62.0	60.0	60.0					7																	44104787		2203	4300	6503	44071312	SO:0001819	synonymous_variant	5224	exon1				CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.342C>A	7.37:g.44104787G>T			44071312	NM_000290		Silent	SNP	ENST00000297283.3	37	CCDS34624.1																																																																																				0.627	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1		
AEBP1	165	broad.mit.edu	37	7	44153269	44153269	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44153269G>A	ENST00000223357.3	+	21	3191	c.2886G>A	c.(2884-2886)ccG>ccA	p.P962P	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Silent_p.P537P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	962	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P962P(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTACACCCCGAGCGCCAAGA	0.607																																					p.P962P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2886A	7						.						86.0	84.0	84.0					7																	44153269		2203	4300	6503	44119794	SO:0001819	synonymous_variant	165	exon21			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2886G>A	7.37:g.44153269G>A			44119794	NM_001129	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	ENST00000223357.3	37	CCDS5476.1																																																																																				0.607	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	
MYL7	58498	broad.mit.edu	37	7	44180602	44180602	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44180602G>T	ENST00000223364.3	-	2	101	c.75C>A	c.(73-75)gtC>gtA	p.V25V	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	25						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.V25V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						ACATGGAAAAGACGTTGGAAG	0.607																																					p.V25V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C75A	7						.						106.0	104.0	104.0					7																	44180602		2203	4300	6503	44147127	SO:0001819	synonymous_variant	58498	exon2			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.75C>A	7.37:g.44180602G>T			44147127	NM_021223	B2R4L3	Silent	SNP	ENST00000223364.3	37	CCDS5478.1																																																																																				0.607	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223	
GCK	2645	broad.mit.edu	37	7	44198715	44198715	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44198715G>A	ENST00000403799.3	-	2	515				GCK_ENST00000345378.2_Missense_Mutation_p.A2V|GCK_ENST00000476008.1_Intron|GCK_ENST00000437084.1_Intron|GCK_ENST00000395796.3_5'UTR	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)	p.A2V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GACATCCATCGCCATCTCTCC	0.592																																					p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	7						.						134.0	121.0	126.0					7																	44198715		2203	4300	6503	44165240	SO:0001627	intron_variant	2645	exon1			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.46-5653C>T	7.37:g.44198715G>A			44165240	NM_033507	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939839	0.18281	.	.	ENSG00000106633	ENST00000345378	D	0.97404	-4.37	3.05	2.17	0.27698	.	2.388090	0.02053	N	0.050199	D	0.92260	0.7545	.	.	.	0.09310	N	0.999999	B	0.21452	0.056	B	0.10450	0.005	D	0.85420	0.1142	9	0.15952	T	0.53	-5.6747	6.1893	0.20516	0.1417:0.0:0.8583:0.0	.	2	P35557-2	.	V	2	ENSP00000223366:A2V	ENSP00000223366:A2V	A	-	2	0	GCK	44165240	0.107000	0.21998	0.010000	0.14722	0.073000	0.16967	1.208000	0.32345	0.843000	0.35070	0.462000	0.41574	GCG		0.592	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
YKT6	10652	broad.mit.edu	37	7	44247771	44247771	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44247771G>A	ENST00000223369.2	+	5	520	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	YKT6_ENST00000496112.1_Missense_Mutation_p.E145K|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	145	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)	p.E145K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						AGTGCAGGCCGAACTAGATGA	0.488																																					p.E145K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	7						.						80.0	68.0	72.0					7																	44247771		2203	4300	6503	44214296	SO:0001583	missense	10652	exon5			BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.433G>A	7.37:g.44247771G>A	ENSP00000223369:p.Glu145Lys		44214296	NM_006555	B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922328	0.92319	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T	0.48201	0.82	6.06	5.19	0.71726	Synaptobrevin (2);	0.042768	0.85682	N	0.000000	T	0.61299	0.2336	M	0.70842	2.15	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.55303	0.463;0.773	T	0.66933	-0.5798	10	0.87932	D	0	-7.4861	14.1628	0.65457	0.0725:0.0:0.9275:0.0	.	145;145	B4DR94;O15498	.;YKT6_HUMAN	K	145	ENSP00000223369:E145K	ENSP00000223369:E145K	E	+	1	0	YKT6	44214296	1.000000	0.71417	0.543000	0.28128	0.938000	0.57974	8.817000	0.91985	1.578000	0.49821	0.650000	0.86243	GAA		0.488	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555	
DDX56	54606	broad.mit.edu	37	7	44612328	44612328	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44612328C>A	ENST00000258772.5	-	4	505	c.399G>T	c.(397-399)gaG>gaT	p.E133D	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.E133D	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	133	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.E133D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CATCTGGCTTCTCCATCAGCA	0.517																																					p.E133D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G399T	7						.						95.0	90.0	92.0					7																	44612328		2203	4300	6503	44578853	SO:0001583	missense	54606	exon4			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.399G>T	7.37:g.44612328C>A	ENSP00000258772:p.Glu133Asp		44578853	NM_019082	A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257885	0.80246	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.42131	0.98;0.98	5.48	3.66	0.41972	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.28014	0.82	0.54753	D	0.999986	B;B	0.25048	0.117;0.026	B;B	0.35770	0.21;0.085	T	0.04885	-1.0920	10	0.11182	T	0.66	-39.4064	10.9224	0.47171	0.0:0.836:0.0:0.164	.	133;133	C9JV95;Q9NY93	.;DDX56_HUMAN	D	133	ENSP00000258772:E133D;ENSP00000393488:E133D	ENSP00000258772:E133D	E	-	3	2	DDX56	44578853	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.868000	0.48436	1.468000	0.48064	-0.136000	0.14681	GAG		0.517	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082	
H2AFV	94239	broad.mit.edu	37	7	44875157	44875157	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44875157G>T	ENST00000308153.4	-	4	387	c.296C>A	c.(295-297)tCt>tAt	p.S99Y	H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000222690.6_Missense_Mutation_p.S99Y|H2AFV_ENST00000446531.1_Missense_Mutation_p.S99Y|H2AFV_ENST00000350771.3_Missense_Mutation_p.S73Y|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000437072.1_Missense_Mutation_p.S61Y|H2AFV_ENST00000349299.3_Missense_Mutation_p.S61Y	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	99						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S99Y(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						CTTGATAAGAGAATCCAACTC	0.428																																					p.S61Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C182A	7						.						116.0	92.0	100.0					7																	44875157		2203	4300	6503	44841682	SO:0001583	missense	94239	exon3			AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.296C>A	7.37:g.44875157G>T	ENSP00000308405:p.Ser99Tyr		44841682	NM_201517	A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630555	0.87660	.	.	ENSG00000105968	ENST00000222690;ENST00000437072;ENST00000349299;ENST00000308153;ENST00000350771;ENST00000446531	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.68	5.68	0.88126	Histone-fold (2);Histone H2A (1);	.	.	.	.	D	0.89649	0.6776	M	0.64404	1.975	0.80722	D	1	P;D;D;P	0.65815	0.529;0.975;0.995;0.904	B;P;P;B	0.56751	0.281;0.805;0.615;0.396	D	0.90292	0.4323	9	0.72032	D	0.01	-11.8079	17.2793	0.87124	0.0:0.0:1.0:0.0	.	73;61;99;99	A6NKY0;A6NFA8;Q71UI9;A6NN01	.;.;H2AV_HUMAN;.	Y	99;61;61;99;73;99	ENSP00000222690:S99Y;ENSP00000397115:S61Y;ENSP00000342714:S61Y;ENSP00000308405:S99Y;ENSP00000340708:S73Y;ENSP00000406901:S99Y	ENSP00000222690:S99Y	S	-	2	0	H2AFV	44841682	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.179000	0.94861	2.698000	0.92095	0.585000	0.79938	TCT		0.428	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412	
PURB	5814	broad.mit.edu	37	7	44924203	44924203	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:44924203C>T	ENST00000395699.2	-	1	757	c.745G>A	c.(745-747)Gag>Aag	p.E249K	MIR4657_ENST00000578157.1_RNA|RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	249					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.E249K(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GGCTTCACCTCGCTCACTCGC	0.567																																					p.E249K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	7						.						119.0	125.0	123.0					7																	44924203		2203	4300	6503	44890728	SO:0001583	missense	5814	exon1				CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.745G>A	7.37:g.44924203C>T	ENSP00000379051:p.Glu249Lys		44890728	NM_033224	A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153276	0.94645	.	.	ENSG00000146676	ENST00000395699	T	0.47869	0.83	4.27	4.27	0.50696	.	0.072925	0.52532	U	0.000061	T	0.73830	0.3637	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.80930	-0.1162	10	0.87932	D	0	.	14.5813	0.68292	0.0:1.0:0.0:0.0	.	249	Q96QR8	PURB_HUMAN	K	249	ENSP00000379051:E249K	ENSP00000379051:E249K	E	-	1	0	PURB	44890728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.567000	0.82357	2.362000	0.80069	0.591000	0.81541	GAG		0.567	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224	
ADCY1	107	broad.mit.edu	37	7	45662327	45662327	+	Silent	SNP	C	C	T	rs143472730		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:45662327C>T	ENST00000297323.7	+	4	1027	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ADCY1_ENST00000432715.1_Silent_p.F110F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	335					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.F335F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCGGCAAGTTCGATGAATTAG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20567	0.0		0.001	False		,,,				2504	0.0				p.F335F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	7						.	C		0,4406		0,0,2203	94.0	83.0	86.0		1005	-0.6	1.0	7	dbSNP_134	86	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ADCY1	NM_021116.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		335/1120	45662327	3,13003	2203	4300	6503	45628852	SO:0001819	synonymous_variant	107	exon4			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1005C>T	7.37:g.45662327C>T			45628852	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																				0.488	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
TNS3	64759	broad.mit.edu	37	7	47342587	47342587	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47342587C>T	ENST00000398879.1	-	22	3784	c.3418G>A	c.(3418-3420)Gac>Aac	p.D1140N	TNS3_ENST00000355730.3_Missense_Mutation_p.D900N|TNS3_ENST00000311160.9_Missense_Mutation_p.D1140N			Q68CZ2	TENS3_HUMAN	tensin 3	1140					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.D1140N(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTGGAAAAGTCGGGAAGGACA	0.597																																					p.D1140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3418A	7						.						77.0	84.0	82.0					7																	47342587		1954	4144	6098	47309112	SO:0001583	missense	64759	exon22			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3418G>A	7.37:g.47342587C>T	ENSP00000381854:p.Asp1140Asn		47309112	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803047	0.70682	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.98474	-3.3;-3.3;-3.82;-4.95	5.56	5.56	0.83823	.	0.115999	0.56097	D	0.000033	D	0.98852	0.9612	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99826	1.1050	10	0.72032	D	0.01	-38.1981	17.0298	0.86458	0.0:1.0:0.0:0.0	.	1140	Q68CZ2	TENS3_HUMAN	N	1140;1250;1140;900;596;1243	ENSP00000312143:D1140N;ENSP00000381854:D1140N;ENSP00000347968:D900N;ENSP00000414358:D1243N	ENSP00000312143:D1140N	D	-	1	0	TNS3	47309112	1.000000	0.71417	0.611000	0.29010	0.009000	0.06853	7.097000	0.76967	2.615000	0.88500	0.484000	0.47621	GAC		0.597	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
C7orf65	401335	broad.mit.edu	37	7	47698549	47698549	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47698549A>C	ENST00000408988.2	+	3	214	c.179A>C	c.(178-180)aAa>aCa	p.K60T		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	60										endometrium(1)|lung(2)	3						GCATTTAAAAAATGCAGAGAA	0.488																																					p.K60T												.	.	0			c.A179C	7						.						48.0	46.0	47.0					7																	47698549		1568	3582	5150	47665074	SO:0001583	missense	401335	exon3				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.179A>C	7.37:g.47698549A>C	ENSP00000386198:p.Lys60Thr		47665074	NM_001123065	A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	A	7.006	0.555786	0.13436	.	.	ENSG00000221845	ENST00000408988	.	.	.	0.881	0.881	0.19166	.	.	.	.	.	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.09707	-1.0662	8	0.87932	D	0	.	4.0544	0.09810	1.0:0.0:0.0:0.0	.	60	Q6ZTY9	CG065_HUMAN	T	60	.	ENSP00000386198:K60T	K	+	2	0	C7orf65	47665074	0.000000	0.05858	0.006000	0.13384	0.148000	0.21650	-0.401000	0.07232	0.641000	0.30601	0.324000	0.21423	AAA		0.488	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065	
PKD1L1	168507	broad.mit.edu	37	7	47847885	47847885	+	Missense_Mutation	SNP	C	C	T	rs147668180	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47847885C>T	ENST00000289672.2	-	52	7837	c.7787G>A	c.(7786-7788)cGa>cAa	p.R2596Q	C7orf69_ENST00000418326.2_Intron|PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2596					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R2596Q(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATAAATGCTCGGCAAAGTCC	0.517																																					p.R2596Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7787A	7						.						159.0	130.0	140.0					7																	47847885		2203	4300	6503	47814410	SO:0001583	missense	168507	exon52			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7787G>A	7.37:g.47847885C>T	ENSP00000289672:p.Arg2596Gln		47814410	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.874281	0.00542	.	.	ENSG00000158683	ENST00000289672	T	0.70164	-0.46	4.98	-0.414	0.12359	Polycystin cation channel, PKD1/PKD2 (1);	0.569907	0.14863	N	0.293989	T	0.30696	0.0773	N	0.03608	-0.345	0.09310	N	0.999997	B	0.09022	0.002	B	0.06405	0.002	T	0.27502	-1.0072	10	0.02654	T	1	-1.0356	4.31	0.10965	0.1502:0.3473:0.0:0.5025	.	2596	Q8TDX9	PK1L1_HUMAN	Q	2596	ENSP00000289672:R2596Q	ENSP00000289672:R2596Q	R	-	2	0	PKD1L1	47814410	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.305000	0.08188	-0.346000	0.08312	-0.285000	0.09966	CGA		0.517	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47886498	47886498	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47886498G>T	ENST00000289672.2	-	32	5182	c.5132C>A	c.(5131-5133)tCt>tAt	p.S1711Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1711	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S1711F(1)|p.S1711Y(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTTTTCAGGAGAAGTCCCTGG	0.433																																					p.S1711Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C5132A	7						.						97.0	92.0	93.0					7																	47886498		2203	4300	6503	47853023	SO:0001583	missense	168507	exon32			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5132C>A	7.37:g.47886498G>T	ENSP00000289672:p.Ser1711Tyr		47853023	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256851	0.39896	.	.	ENSG00000158683	ENST00000289672	T	0.22336	1.96	5.07	2.24	0.28232	.	0.525001	0.17793	N	0.161835	T	0.12220	0.0297	L	0.27053	0.805	0.24298	N	0.995136	P	0.48016	0.904	B	0.38264	0.269	T	0.14035	-1.0487	10	0.87932	D	0	-11.2487	6.4218	0.21748	0.3834:0.0:0.6166:0.0	.	1711	Q8TDX9	PK1L1_HUMAN	Y	1711	ENSP00000289672:S1711Y	ENSP00000289672:S1711Y	S	-	2	0	PKD1L1	47853023	0.798000	0.28890	0.917000	0.36280	0.986000	0.74619	0.608000	0.24223	0.523000	0.28482	0.563000	0.77884	TCT		0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47925648	47925648	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47925648G>T	ENST00000289672.2	-	18	2891	c.2841C>A	c.(2839-2841)ccC>ccA	p.P947P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	947	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.P947P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCTGCAGAAGGGAACTTAAG	0.433																																					p.P947P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2841A	7						.						47.0	48.0	48.0					7																	47925648		2203	4300	6503	47892173	SO:0001819	synonymous_variant	168507	exon18			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2841C>A	7.37:g.47925648G>T			47892173	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.433	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47933555	47933555	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47933555G>T	ENST00000289672.2	-	15	2423	c.2373C>A	c.(2371-2373)ttC>ttA	p.F791L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	791	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.F791L(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTGGAGAAGAATAGGTGTG	0.602																																					p.F791L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2373A	7						.						92.0	66.0	75.0					7																	47933555		2203	4300	6503	47900080	SO:0001583	missense	168507	exon15			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2373C>A	7.37:g.47933555G>T	ENSP00000289672:p.Phe791Leu		47900080	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.482192	0.26598	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	5.23	0.0841	0.14436	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.000000	0.64402	D	0.000003	T	0.61689	0.2367	L	0.45581	1.43	0.09310	N	0.999996	D	0.52996	0.957	P	0.53490	0.727	T	0.52548	-0.8561	10	0.29301	T	0.29	-26.3625	5.4535	0.16578	0.3271:0.138:0.5349:0.0	.	791	Q8TDX9	PK1L1_HUMAN	L	791	ENSP00000289672:F791L	ENSP00000289672:F791L	F	-	3	2	PKD1L1	47900080	0.037000	0.19845	0.162000	0.22713	0.051000	0.14879	0.004000	0.13106	0.242000	0.21303	-0.284000	0.09977	TTC		0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47944114	47944114	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47944114A>G	ENST00000289672.2	-	12	1842	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	598	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S598P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGGAGGGGGACGTGAGCCGA	0.542																																					p.S598P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1792C	7						.						105.0	80.0	89.0					7																	47944114		2203	4300	6503	47910639	SO:0001583	missense	168507	exon12			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1792T>C	7.37:g.47944114A>G	ENSP00000289672:p.Ser598Pro		47910639	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.374311	0.24857	.	.	ENSG00000158683	ENST00000289672	T	0.69926	-0.44	5.12	3.95	0.45737	PKD/Chitinase domain (1);PKD domain (2);	0.169710	0.37348	N	0.002125	T	0.76147	0.3947	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.66736	-0.5848	10	0.52906	T	0.07	-33.7065	9.7112	0.40247	0.6625:0.3375:0.0:0.0	.	598	Q8TDX9	PK1L1_HUMAN	P	598	ENSP00000289672:S598P	ENSP00000289672:S598P	S	-	1	0	PKD1L1	47910639	0.140000	0.22579	0.002000	0.10522	0.092000	0.18411	1.448000	0.35112	0.886000	0.36113	0.477000	0.44152	TCC		0.542	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47947723	47947723	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47947723G>A	ENST00000289672.2	-	9	1403	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	451					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V451V(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATCTTCATGGACACTGCTGG	0.443																																					p.V451V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1353T	7						.						120.0	105.0	110.0					7																	47947723		2203	4300	6503	47914248	SO:0001819	synonymous_variant	168507	exon9			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1353C>T	7.37:g.47947723G>A			47914248	NM_138295	Q6UWK1	Silent	SNP	ENST00000289672.2	37	CCDS34633.1																																																																																				0.443	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	broad.mit.edu	37	7	47968801	47968801	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:47968801C>A	ENST00000289672.2	-	7	1110	c.1060G>T	c.(1060-1062)Ggt>Tgt	p.G354C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	354					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G354C(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCACCTTACCTTTTGAGTAC	0.512																																					p.G354C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060T	7						.						102.0	95.0	97.0					7																	47968801		2203	4300	6503	47935326	SO:0001630	splice_region_variant	168507	exon7			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1060+1G>T	7.37:g.47968801C>A			47935326	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054571	0.36277	.	.	ENSG00000158683	ENST00000289672	T	0.21543	2.0	4.11	4.11	0.48088	.	2587.440000	0.00465	U	0.000103	T	0.26340	0.0643	N	0.08118	0	0.28496	N	0.914244	D	0.62365	0.991	P	0.58454	0.839	T	0.46582	-0.9181	9	.	.	.	.	12.077	0.53649	0.0:1.0:0.0:0.0	.	354	Q8TDX9	PK1L1_HUMAN	C	354	ENSP00000289672:G354C	.	G	-	1	0	PKD1L1	47935326	0.999000	0.42202	0.928000	0.36995	0.014000	0.08584	2.819000	0.48049	2.295000	0.77249	0.579000	0.79373	GGT		0.512	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	Missense_Mutation
ABCA13	154664	broad.mit.edu	37	7	48259035	48259035	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48259035A>C	ENST00000435803.1	+	4	396	c.372A>C	c.(370-372)gaA>gaC	p.E124D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	124					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E124D(1)|p.E69D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGCAGAGGAAATTCATGGAA	0.403																																					p.K70T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A209C	7						.						102.0	97.0	99.0					7																	48259035		1839	4087	5926	48229581	SO:0001583	missense	154664	exon2			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.372A>C	7.37:g.48259035A>C	ENSP00000411096:p.Glu124Asp		48229581	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358226	0.24598	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	5.58	-9.6	0.00553	.	0.833401	0.10272	N	0.694655	T	0.64768	0.2628	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.11235	0.002;0.004	B;B	0.11329	0.006;0.003	T	0.49263	-0.8958	10	0.29301	T	0.29	.	6.326	0.21244	0.2294:0.5427:0.1422:0.0857	.	124;124	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	D	124	ENSP00000411096:E124D	ENSP00000409268:E124D	E	+	3	2	ABCA13	48229581	0.001000	0.12720	0.001000	0.08648	0.428000	0.31595	-0.788000	0.04614	-1.164000	0.02790	0.533000	0.62120	GAA		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48280567	48280567	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48280567C>A	ENST00000435803.1	+	10	1190	c.1166C>A	c.(1165-1167)cCc>cAc	p.P389H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	389					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P389H(1)|p.P334H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGAGCAAGCCCTGGAAGGTG	0.493																																					p.P335T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1003A	7						.						132.0	133.0	133.0					7																	48280567		2048	4204	6252	48251113	SO:0001583	missense	154664	exon8			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1166C>A	7.37:g.48280567C>A	ENSP00000411096:p.Pro389His		48251113	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768256	0.49680	.	.	ENSG00000179869	ENST00000435803	D	0.91464	-2.85	5.5	3.69	0.42338	.	0.276231	0.25954	N	0.027224	D	0.89424	0.6711	L	0.27053	0.805	0.09310	N	0.999994	D	0.71674	0.998	P	0.61397	0.888	T	0.81531	-0.0890	10	0.87932	D	0	.	8.1417	0.31086	0.0:0.8152:0.0:0.1848	.	389	Q86UQ4	ABCAD_HUMAN	H	389	ENSP00000411096:P389H	ENSP00000411096:P389H	P	+	2	0	ABCA13	48251113	0.000000	0.05858	0.006000	0.13384	0.100000	0.18952	0.082000	0.14847	0.678000	0.31325	0.655000	0.94253	CCC		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48280633	48280633	+	Missense_Mutation	SNP	G	G	A	rs557664531		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48280633G>A	ENST00000435803.1	+	10	1256	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	411					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G411D(1)|p.G356D(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGCAGATGGCCCAAAAGAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		19719	0.0		0.001	False		,,,				2504	0.0				p.A357T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1069A	7						.						151.0	149.0	150.0					7																	48280633		2026	4195	6221	48251179	SO:0001583	missense	154664	exon8			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1232G>A	7.37:g.48280633G>A	ENSP00000411096:p.Gly411Asp		48251179	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812816	0.50527	.	.	ENSG00000179869	ENST00000435803	D	0.89196	-2.48	5.36	-3.0E-4	0.14038	.	0.785759	0.10983	N	0.612505	D	0.84138	0.5406	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.54544	0.755	T	0.73209	-0.4055	10	0.66056	D	0.02	.	1.111	0.01704	0.287:0.1919:0.383:0.1381	.	411	Q86UQ4	ABCAD_HUMAN	D	411	ENSP00000411096:G411D	ENSP00000411096:G411D	G	+	2	0	ABCA13	48251179	0.000000	0.05858	0.001000	0.08648	0.125000	0.20455	-0.007000	0.12810	-0.011000	0.14247	0.655000	0.94253	GGC		0.443	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48285536	48285536	+	Missense_Mutation	SNP	G	G	A	rs369781498		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48285536G>A	ENST00000435803.1	+	13	1592	c.1568G>A	c.(1567-1569)aGc>aAc	p.S523N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	523					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S523N(1)|p.S468N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAACTCCAGCATATGGGGT	0.453																																					p.A469T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1405A	7						.						83.0	78.0	80.0					7																	48285536		1873	4104	5977	48256082	SO:0001583	missense	154664	exon11			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1568G>A	7.37:g.48285536G>A	ENSP00000411096:p.Ser523Asn		48256082	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094425	0.36952	.	.	ENSG00000179869	ENST00000435803	D	0.88124	-2.34	4.81	3.8	0.43715	.	0.970605	0.08459	N	0.942633	T	0.78660	0.4318	L	0.27053	0.805	0.20638	N	0.999879	B	0.22604	0.072	B	0.18871	0.023	T	0.67177	-0.5736	10	0.72032	D	0.01	.	5.205	0.15285	0.1888:0.0:0.8112:0.0	.	523	Q86UQ4	ABCAD_HUMAN	N	523	ENSP00000411096:S523N	ENSP00000411096:S523N	S	+	2	0	ABCA13	48256082	0.006000	0.16342	0.005000	0.12908	0.068000	0.16541	1.567000	0.36407	2.196000	0.70406	0.655000	0.94253	AGC		0.453	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48311961	48311961	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48311961A>C	ENST00000435803.1	+	17	2722	c.2698A>C	c.(2698-2700)Act>Cct	p.T900P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	900					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T900P(1)|p.T845P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCTATAATAACTAGTCTCCA	0.393																																					p.X845Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2535C	7						.						97.0	96.0	97.0					7																	48311961		1856	4098	5954	48282507	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2698A>C	7.37:g.48311961A>C	ENSP00000411096:p.Thr900Pro		48282507	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	5.347	0.249405	0.10130	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.46	0.0515	0.14298	.	1.038830	0.07640	N	0.930190	T	0.70263	0.3204	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.57952	-0.7722	10	0.66056	D	0.02	.	7.6631	0.28415	0.4883:0.4365:0.0752:0.0	.	900	Q86UQ4	ABCAD_HUMAN	P	900	ENSP00000411096:T900P	ENSP00000411096:T900P	T	+	1	0	ABCA13	48282507	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.542000	0.23222	-0.136000	0.11475	0.528000	0.53228	ACT		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48313251	48313251	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48313251G>T	ENST00000435803.1	+	17	4012	c.3988G>T	c.(3988-3990)Gca>Tca	p.A1330S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1330					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1275S(1)|p.A1330S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTAAGAGAAGCAATAGTATT	0.279																																					p.K1275N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3825T	7						.						25.0	26.0	25.0					7																	48313251		1811	4052	5863	48283797	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3988G>T	7.37:g.48313251G>T	ENSP00000411096:p.Ala1330Ser		48283797	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	9.950	1.219883	0.22373	.	.	ENSG00000179869	ENST00000435803	D	0.85556	-2.0	5.37	3.02	0.34903	.	0.267738	0.26359	N	0.024826	T	0.71400	0.3335	N	0.22421	0.69	0.80722	D	1	B	0.25667	0.131	B	0.22386	0.039	T	0.59075	-0.7522	9	.	.	.	.	7.5144	0.27592	0.8254:0.0:0.1746:0.0	.	1330	Q86UQ4	ABCAD_HUMAN	S	1330	ENSP00000411096:A1330S	.	A	+	1	0	ABCA13	48283797	0.242000	0.23868	0.211000	0.23655	0.430000	0.31655	2.035000	0.41155	0.442000	0.26555	-0.484000	0.04775	GCA		0.279	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48314155	48314155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48314155G>T	ENST00000435803.1	+	17	4916	c.4892G>T	c.(4891-4893)gGt>gTt	p.G1631V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1631					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G1631V(1)|p.G1576V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAGGTCTTGGTATTCAACTG	0.368																																					p.V1577L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4729T	7						.						180.0	172.0	174.0					7																	48314155		1869	4096	5965	48284701	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4892G>T	7.37:g.48314155G>T	ENSP00000411096:p.Gly1631Val		48284701	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.149	0.583322	0.13749	.	.	ENSG00000179869	ENST00000435803	D	0.86562	-2.14	5.43	-0.743	0.11105	.	1.016150	0.07887	N	0.970466	T	0.78052	0.4223	L	0.47716	1.5	0.09310	N	1	B	0.21905	0.062	B	0.18871	0.023	T	0.59894	-0.7368	9	.	.	.	.	0.2822	0.00246	0.2444:0.1636:0.2926:0.2994	.	1631	Q86UQ4	ABCAD_HUMAN	V	1631	ENSP00000411096:G1631V	.	G	+	2	0	ABCA13	48284701	0.002000	0.14202	0.000000	0.03702	0.151000	0.21798	1.334000	0.33827	-0.021000	0.14009	0.563000	0.77884	GGT		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48314899	48314899	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48314899G>A	ENST00000435803.1	+	17	5660	c.5636G>A	c.(5635-5637)cGa>cAa	p.R1879Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1879					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1879Q(1)|p.R1824L(1)|p.R1879L(1)|p.R1824Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAGCTCCCGAATGGAAATA	0.403																																					p.E1825K												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G5473A	7						.						60.0	61.0	61.0					7																	48314899		1814	4073	5887	48285445	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5636G>A	7.37:g.48314899G>A	ENSP00000411096:p.Arg1879Gln		48285445	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	1.447	-0.565947	0.03910	.	.	ENSG00000179869	ENST00000435803	T	0.20738	2.05	6.16	-4.9	0.03094	.	1.687590	0.03791	N	0.262930	T	0.04998	0.0134	N	0.00729	-1.24	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.30592	-0.9973	9	.	.	.	.	4.8921	0.13731	0.2606:0.1049:0.5302:0.1044	.	1879	Q86UQ4	ABCAD_HUMAN	Q	1879	ENSP00000411096:R1879Q	.	R	+	2	0	ABCA13	48285445	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.385000	0.02540	-0.595000	0.05828	-0.300000	0.09419	CGA		0.403	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48315394	48315394	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48315394G>T	ENST00000435803.1	+	17	6155	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2044					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2044I(1)|p.S1989I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATTATCAAGTTTTATTGAA	0.358																																					p.V1990F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5968T	7						.						32.0	30.0	31.0					7																	48315394		1829	4082	5911	48285940	SO:0001583	missense	154664	exon15			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6131G>T	7.37:g.48315394G>T	ENSP00000411096:p.Ser2044Ile		48285940	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794944	0.16327	.	.	ENSG00000179869	ENST00000435803	T	0.15603	2.41	4.65	-2.5	0.06384	.	0.883493	0.09483	N	0.796038	T	0.12263	0.0298	L	0.44542	1.39	0.09310	N	1	B	0.22003	0.063	B	0.21360	0.034	T	0.36089	-0.9762	9	.	.	.	.	6.2943	0.21077	0.4705:0.2465:0.283:0.0	.	2044	Q86UQ4	ABCAD_HUMAN	I	2044	ENSP00000411096:S2044I	.	S	+	2	0	ABCA13	48285940	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.664000	0.05292	-0.586000	0.05898	-2.630000	0.00154	AGT		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48431626	48431626	+	Silent	SNP	G	G	A	rs372260479		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48431626G>A	ENST00000435803.1	+	38	11787	c.11763G>A	c.(11761-11763)ccG>ccA	p.P3921P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3921	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P3921P(1)|p.P3866P(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTGTGTCCGCAGCAGGACA	0.552																																					p.R3867H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G11600A	7						.	G		6,4058		0,6,2026	121.0	125.0	123.0		11763	-10.6	0.0	7		123	0,8362		0,0,4181	no	coding-synonymous	ABCA13	NM_152701.3		0,6,6207	AA,AG,GG		0.0,0.1476,0.0483		3921/5059	48431626	6,12420	2032	4181	6213	48402172	SO:0001819	synonymous_variant	154664	exon36			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11763G>A	7.37:g.48431626G>A			48402172	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48452009	48452009	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48452009G>T	ENST00000435803.1	+	41	12312	c.12288G>T	c.(12286-12288)aaG>aaT	p.K4096N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4096					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K4096N(1)|p.K4041N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTGATAAAGATCTATATTC	0.438																																					p.R4042I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12125T	7						.						47.0	45.0	46.0					7																	48452009		1880	4117	5997	48422555	SO:0001583	missense	154664	exon39			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12288G>T	7.37:g.48452009G>T	ENSP00000411096:p.Lys4096Asn		48422555	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	7.498	0.651989	0.14580	.	.	ENSG00000179869	ENST00000435803	D	0.83673	-1.75	4.98	4.98	0.66077	.	0.142695	0.32473	N	0.006058	T	0.77903	0.4200	L	0.33189	0.99	0.80722	D	1	B;B	0.20988	0.05;0.023	B;B	0.23716	0.048;0.014	T	0.75291	-0.3369	10	0.59425	D	0.04	.	17.2325	0.86988	0.0:0.0:1.0:0.0	.	1798;4096	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	4096	ENSP00000411096:K4096N	ENSP00000411096:K4096N	K	+	3	2	ABCA13	48422555	1.000000	0.71417	0.041000	0.18516	0.004000	0.04260	3.924000	0.56476	2.288000	0.76882	0.555000	0.69702	AAG		0.438	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48547482	48547482	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48547482G>A	ENST00000435803.1	+	50	13385	c.13361G>A	c.(13360-13362)cGt>cAt	p.R4454H	ABCA13_ENST00000544596.1_Missense_Mutation_p.R184H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R4454H(1)|p.R4399H(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGAGCATCCGTCAGTGTGGA	0.552																																					p.V4400I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G13198A	7						.						63.0	65.0	65.0					7																	48547482		2139	4257	6396	48518028	SO:0001583	missense	154664	exon48			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13361G>A	7.37:g.48547482G>A	ENSP00000411096:p.Arg4454His		48518028	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260620	0.80246	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87334	-2.24;-2.24;-2.24	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000085	D	0.93141	0.7816	M	0.76574	2.34	0.47214	D	0.999352	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.975;0.992;0.999	D	0.93715	0.7027	10	0.87932	D	0	.	16.5419	0.84395	0.0:0.0:1.0:0.0	.	184;2156;4454	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	H	4454;227;184	ENSP00000411096:R4454H;ENSP00000391042:R227H;ENSP00000442634:R184H	ENSP00000391042:R227H	R	+	2	0	ABCA13	48518028	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	4.292000	0.59031	2.556000	0.86216	0.650000	0.86243	CGT		0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48563975	48563975	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48563975G>A	ENST00000435803.1	+	54	14207	c.14183G>A	c.(14182-14184)cGa>cAa	p.R4728Q	ABCA13_ENST00000544596.1_Missense_Mutation_p.R458Q	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4728	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R4673Q(1)|p.R4728Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACATTATCGACGCTTTTTC	0.348																																					p.D4674N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G14020A	7						.						110.0	111.0	111.0					7																	48563975		1827	4089	5916	48534521	SO:0001583	missense	154664	exon52			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14183G>A	7.37:g.48563975G>A	ENSP00000411096:p.Arg4728Gln		48534521	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.671	-0.801885	0.02841	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.87412	-2.0;-2.25;-2.21	5.59	-1.52	0.08637	ABC transporter-like (1);	1.451940	0.04585	N	0.395644	T	0.74053	0.3666	N	0.17474	0.49	0.09310	N	1	B;B;B	0.24963	0.013;0.115;0.026	B;B;B	0.15870	0.006;0.014;0.002	T	0.58284	-0.7663	10	0.17832	T	0.49	.	6.6363	0.22885	0.457:0.1241:0.4189:0.0	.	458;2430;4728	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	Q	4728;501;458	ENSP00000411096:R4728Q;ENSP00000391042:R501Q;ENSP00000442634:R458Q	ENSP00000391042:R501Q	R	+	2	0	ABCA13	48534521	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.182000	0.09726	-0.323000	0.08602	-0.345000	0.07892	CGA		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48626792	48626792	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48626792G>A	ENST00000435803.1	+	57	14572	c.14548G>A	c.(14548-14550)Gcg>Acg	p.A4850T	ABCA13_ENST00000544596.1_Missense_Mutation_p.A580T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4850	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A4850T(1)|p.A4795T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGAAGCCCACGCGGACAAACC	0.562																																					p.T4795T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G14385A	7						.						43.0	47.0	46.0					7																	48626792		2026	4190	6216	48597338	SO:0001583	missense	154664	exon55			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14548G>A	7.37:g.48626792G>A	ENSP00000411096:p.Ala4850Thr		48597338	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534926	0.27475	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.94000	-3.33;-3.33;-3.33	5.71	4.72	0.59763	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.760684	0.11485	N	0.559299	D	0.91895	0.7434	M	0.87827	2.91	0.09310	N	1	B;P;P	0.35894	0.156;0.524;0.526	B;B;B	0.28784	0.04;0.079;0.094	D	0.87452	0.2402	10	0.66056	D	0.02	.	5.3099	0.15825	0.2323:0.0:0.7677:0.0	.	580;2552;4850	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	T	4850;623;580	ENSP00000411096:A4850T;ENSP00000391042:A623T;ENSP00000442634:A580T	ENSP00000391042:A623T	A	+	1	0	ABCA13	48597338	0.122000	0.22280	0.167000	0.22817	0.153000	0.21895	2.313000	0.43735	2.683000	0.91414	0.650000	0.86243	GCG		0.562	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	broad.mit.edu	37	7	48634409	48634409	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:48634409G>A	ENST00000435803.1	+	58	14768	c.14744G>A	c.(14743-14745)aGc>aAc	p.S4915N	ABCA13_ENST00000544596.1_Splice_Site_p.S645N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4915	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S4915N(1)|p.S4860N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACCTCCCACAGGTGAGTTCCA	0.493																																					p.A4861T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G14581A	7						.																																			48604955	SO:0001630	splice_region_variant	154664	exon56			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14744+1G>A	7.37:g.48634409G>A			48604955	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522224	0.85600	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.97888	-4.59;-4.59;-4.59	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000014	D	0.97620	0.9220	L	0.31578	0.945	0.47698	D	0.999496	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.76575	0.975;0.988;0.963	D	0.98735	1.0714	10	0.66056	D	0.02	.	17.3203	0.87234	0.0:0.0:1.0:0.0	.	645;2617;4915	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	N	4915;688;645	ENSP00000411096:S4915N;ENSP00000391042:S688N;ENSP00000442634:S645N	ENSP00000391042:S688N	S	+	2	0	ABCA13	48604955	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.303000	0.89955	2.672000	0.90937	0.563000	0.77884	AGC		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Missense_Mutation
COBL	23242	broad.mit.edu	37	7	51152969	51152969	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:51152969C>A	ENST00000265136.7	-	7	1155	c.990G>T	c.(988-990)aaG>aaT	p.K330N	COBL_ENST00000395542.2_Missense_Mutation_p.K355N|COBL_ENST00000395540.2_Missense_Mutation_p.K330N|COBL_ENST00000441453.1_Missense_Mutation_p.K330N	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	330	Pro-rich.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)	p.K330N(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCGCTTCTTCTTCTGTAAAT	0.493																																					p.K330N	NSCLC(189;2119 2138 12223 30818 34679)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G990T	7						.						105.0	88.0	94.0					7																	51152969		2203	4300	6503	51120463	SO:0001583	missense	23242	exon7			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.990G>T	7.37:g.51152969C>A	ENSP00000265136:p.Lys330Asn		51120463	NM_015198	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.996991|3.996991	0.74818|0.74818	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000395540;ENST00000441453	.|T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.58	5.46|5.46	-2.08|-2.08	0.07254|0.07254	.|Cordon-bleu domain (1);	.|0.167217	.|0.29293	.|N	.|0.012578	.|T	.|0.60919	.|0.2306	L|L	0.53249|0.53249	1.67|1.67	0.32277|0.32277	N|N	0.568033|0.568033	.|D;P;D;D;D	.|0.76494	.|0.998;0.897;0.996;0.999;0.999	.|D;P;P;D;D	.|0.68765	.|0.923;0.548;0.866;0.96;0.933	.|T	.|0.66304	.|-0.5957	.|10	.|0.52906	.|T	.|0.07	.|.	11.9345|11.9345	0.52866|0.52866	0.0:0.289:0.0:0.711|0.0:0.289:0.0:0.711	.|.	.|330;330;330;330;355	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	X|N	249|330;222;158;355;330;330	.|ENSP00000265136:K330N;ENSP00000401204:K222N;ENSP00000413498:K158N;ENSP00000378912:K355N;ENSP00000378910:K330N;ENSP00000399500:K330N	.|ENSP00000265136:K330N	E|K	-|-	1|3	0|2	COBL|COBL	51120463|51120463	0.931000|0.931000	0.31567|0.31567	0.978000|0.978000	0.43139|0.43139	0.964000|0.964000	0.63967|0.63967	-0.248000|-0.248000	0.08854|0.08854	-0.484000|-0.484000	0.06763|0.06763	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.493	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	
VSTM2A	222008	broad.mit.edu	37	7	54617553	54617553	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:54617553C>A	ENST00000407838.3	+	4	730	c.324C>A	c.(322-324)atC>atA	p.I108I	VSTM2A_ENST00000402613.3_Silent_p.I108I|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000302287.3_Silent_p.I108I|VSTM2A_ENST00000404951.1_Silent_p.I108I|VSTM2A_ENST00000402026.2_Silent_p.I107I	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	108	Ig-like V-type.					extracellular region (GO:0005576)		p.I107I(2)|p.I108I(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAATGACATCTCCCACAAGC	0.408																																					p.I108I												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C324A	7						.						43.0	41.0	42.0					7																	54617553		2203	4300	6503	54585047	SO:0001819	synonymous_variant	222008	exon4			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.324C>A	7.37:g.54617553C>A			54585047	NM_182546	A4D2E9|B5MC94	Silent	SNP	ENST00000407838.3	37	CCDS5512.2																																																																																				0.408	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	
EGFR	1956	broad.mit.edu	37	7	55211097	55211097	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:55211097G>A	ENST00000275493.2	+	3	517	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	EGFR_ENST00000455089.1_Missense_Mutation_p.E114K|EGFR_ENST00000344576.2_Missense_Mutation_p.E114K|EGFR_ENST00000442591.1_Missense_Mutation_p.E114K|EGFR_ENST00000342916.3_Missense_Mutation_p.E114K|EGFR_ENST00000420316.2_Missense_Mutation_p.E114K|EGFR_ENST00000454757.2_Missense_Mutation_p.E61K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	114			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E114K(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATGTACTACGAAAATTCCTA	0.458		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.E114K		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G340A	7						.						113.0	113.0	113.0					7																	55211097		2203	4300	6503	55178591	SO:0001583	missense	1956	exon3	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.340G>A	7.37:g.55211097G>A	ENSP00000275493:p.Glu114Lys		55178591	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364338	0.41902	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.141063	0.64402	D	0.000006	T	0.69033	0.3066	L	0.37800	1.135	0.58432	D	0.999996	B;B;P;B;B	0.36249	0.142;0.019;0.545;0.04;0.036	B;B;B;B;B	0.28638	0.066;0.016;0.092;0.021;0.017	T	0.71652	-0.4528	10	0.52906	T	0.07	.	11.4126	0.49933	0.0839:0.0:0.9161:0.0	.	114;114;114;114;114	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	114;114;114;114;114;114;61;61	ENSP00000415559:E114K;ENSP00000342376:E114K;ENSP00000345973:E114K;ENSP00000413843:E114K;ENSP00000275493:E114K;ENSP00000410031:E114K;ENSP00000413354:E61K;ENSP00000395243:E61K	ENSP00000275493:E114K	E	+	1	0	EGFR	55178591	1.000000	0.71417	0.943000	0.38184	0.083000	0.17756	4.824000	0.62701	2.656000	0.90262	0.655000	0.94253	GAA		0.458	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
LANCL2	55915	broad.mit.edu	37	7	55499000	55499000	+	Missense_Mutation	SNP	C	C	T	rs372359047		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:55499000C>T	ENST00000254770.2	+	9	1918	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	447					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.S447L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTTGACTCTTCGAAGAGGGAT	0.448																																					p.S447L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1340T	7						.	C	LEU/SER	0,4406		0,0,2203	77.0	72.0	74.0		1340	2.8	0.0	7		74	1,8599		0,1,4299	no	missense	LANCL2	NM_018697.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	447/451	55499000	1,13005	2203	4300	6503	55466494	SO:0001583	missense	55915	exon9			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1340C>T	7.37:g.55499000C>T	ENSP00000254770:p.Ser447Leu		55466494	NM_018697	B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255988	0.22965	0.0	1.16E-4	ENSG00000132434	ENST00000254770	T	0.30448	1.53	5.79	2.78	0.32641	.	1.359230	0.04657	N	0.408184	T	0.20941	0.0504	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26503	-1.0101	10	0.09843	T	0.71	.	2.0557	0.03581	0.1504:0.3918:0.2919:0.166	.	447	Q9NS86	LANC2_HUMAN	L	447	ENSP00000254770:S447L	ENSP00000254770:S447L	S	+	2	0	LANCL2	55466494	0.000000	0.05858	0.010000	0.14722	0.946000	0.59487	0.610000	0.24253	0.740000	0.32651	0.563000	0.77884	TCG		0.448	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697	
VOPP1	81552	broad.mit.edu	37	7	55540571	55540571	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:55540571C>T	ENST00000285279.5	-	5	696	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	VOPP1_ENST00000453256.1_Missense_Mutation_p.E99K|VOPP1_ENST00000545390.1_Missense_Mutation_p.E163K|VOPP1_ENST00000454227.1_Missense_Mutation_p.E103K|VOPP1_ENST00000427700.1_Missense_Mutation_p.E164K|VOPP1_ENST00000428648.1_Missense_Mutation_p.E99K|VOPP1_ENST00000433959.1_Missense_Mutation_p.E157K|VOPP1_ENST00000418904.1_Missense_Mutation_p.E149K|VOPP1_ENST00000428097.1_Missense_Mutation_p.E99K	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	166					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)	p.R128Q(1)		endometrium(1)|lung(4)	5						ACTACCTGTTCGTACGGGGGC	0.612																																					p.E166K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	7						.						3.0	3.0	3.0					7																	55540571		1499	3492	4991	55508065	SO:0001583	missense	81552	exon5				CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.496G>A	7.37:g.55540571C>T	ENSP00000285279:p.Glu166Lys		55508065	NM_030796	B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	ENST00000285279.5	37	CCDS47588.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178050	0.94846	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.66829	0.2829	L	0.29908	0.895	0.42879	D	0.99416	D;D;D;D	0.76494	0.995;0.999;0.999;0.999	D;D;D;D	0.76575	0.97;0.988;0.988;0.988	T	0.70583	-0.4832	8	0.87932	D	0	-9.9258	16.8455	0.85979	0.0:1.0:0.0:0.0	.	149;163;166;157	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	K	166;99;157;163;99;149;103;99;164	.	ENSP00000285279:E166K	E	-	1	0	VOPP1	55508065	1.000000	0.71417	0.944000	0.38274	0.968000	0.65278	5.448000	0.66612	2.554000	0.86153	0.650000	0.86243	GAA		0.612	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343074.1	NM_030796	
SEPT14	346288	broad.mit.edu	37	7	55863771	55863771	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:55863771G>A	ENST00000388975.3	-	10	1250	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	378					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.F378F(1)|p.F167F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAAGATGCTCGAACTTGTCCT	0.378																																					p.F378F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1134T	7						.						22.0	25.0	24.0					7																	55863771		1123	2160	3283	55831265	SO:0001819	synonymous_variant	346288	exon10			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1134C>T	7.37:g.55863771G>A			55831265	NM_207366	A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	CCDS5519.2																																																																																				0.378	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
SEPT14	346288	broad.mit.edu	37	7	55874887	55874887	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:55874887T>G	ENST00000388975.3	-	8	998	c.882A>C	c.(880-882)gaA>gaC	p.E294D		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	294	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E294D(1)|p.E83D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTTAGATTTTCCATATTGG	0.358																																					p.E294D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A882C	7						.						111.0	106.0	108.0					7																	55874887		2203	4300	6503	55842381	SO:0001583	missense	346288	exon8			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.882A>C	7.37:g.55874887T>G	ENSP00000373627:p.Glu294Asp		55842381	NM_207366	A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.991928	0.54041	.	.	ENSG00000154997	ENST00000388975	D	0.83506	-1.73	3.24	-0.473	0.12112	.	0.150124	0.42420	D	0.000711	D	0.84638	0.5516	L	0.45470	1.425	0.34314	D	0.685838	D	0.89917	1.0	D	0.91635	0.999	D	0.84345	0.0529	10	0.72032	D	0.01	.	7.3584	0.26731	0.0:0.5462:0.0:0.4538	.	294	Q6ZU15	SEP14_HUMAN	D	294	ENSP00000373627:E294D	ENSP00000373627:E294D	E	-	3	2	SEPT14	55842381	1.000000	0.71417	0.979000	0.43373	0.933000	0.57130	1.174000	0.31932	-0.087000	0.12528	0.455000	0.32223	GAA		0.358	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	
ZNF713	349075	broad.mit.edu	37	7	56006916	56006916	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:56006916T>C	ENST00000429591.2	+	4	548	c.510T>C	c.(508-510)aaT>aaC	p.N170N	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	170					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.N170N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGAGTGTAATAAATTTGCAG	0.378																																					p.N170N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T510C	7						.						57.0	58.0	58.0					7																	56006916		2203	4300	6503	55974410	SO:0001819	synonymous_variant	349075	exon4			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.510T>C	7.37:g.56006916T>C			55974410	NM_182633		Silent	SNP	ENST00000429591.2	37	CCDS34639.1																																																																																				0.378	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633	
MRPS17	51373	broad.mit.edu	37	7	56022703	56022703	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:56022703G>A	ENST00000285298.4	+	3	354	c.225G>A	c.(223-225)aaG>aaA	p.K75K	MRPS17_ENST00000426595.1_Silent_p.K170K	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	75					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K75K(1)		kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGAGCAAAGCATGTGAAAC	0.458																																					p.K75K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G225A	7						.						172.0	173.0	173.0					7																	56022703		2203	4300	6503	55990197	SO:0001819	synonymous_variant	51373	exon3			AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.225G>A	7.37:g.56022703G>A			55990197	NM_015969	Q86X15	Silent	SNP	ENST00000285298.4	37	CCDS5520.1																																																																																				0.458	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969	
CCT6A	908	broad.mit.edu	37	7	56126155	56126155	+	Nonsense_Mutation	SNP	G	G	T	rs370382749		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:56126155G>T	ENST00000275603.4	+	7	1045	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Nonsense_Mutation_p.E231*|SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.E245*	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	276					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.E276*(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAAATAATAGAACTGAAAAG	0.308																																					p.E231X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G691T	7						.						46.0	51.0	50.0					7																	56126155		2201	4294	6495	56093649	SO:0001587	stop_gained	908	exon6			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.826G>T	7.37:g.56126155G>T	ENSP00000275603:p.Glu276*		56093649	NM_001009186	A6NCD2|Q3KP28|Q75LP4|Q96S46	Nonsense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	36	5.913000	0.97099	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	.	.	.	5.66	5.66	0.87406	.	0.369326	0.32401	N	0.006155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.6602	18.3139	0.90210	0.0:0.0:1.0:0.0	.	.	.	.	X	276;231;245;134	.	ENSP00000275603:E276X	E	+	1	0	CCT6A	56093649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.950000	0.63603	2.667000	0.90743	0.491000	0.48974	GAA		0.308	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
ZNF479	90827	broad.mit.edu	37	7	57187668	57187668	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:57187668C>A	ENST00000331162.4	-	5	1724	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	485					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.R485I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTATGTTG	0.403																																					p.R485I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1454T	7						.						23.0	23.0	23.0					7																	57187668		1999	4182	6181	57191610	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1454G>T	7.37:g.57187668C>A	ENSP00000333776:p.Arg485Ile		57191610	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	2.925	-0.222347	0.06061	.	.	ENSG00000185177	ENST00000331162	T	0.02446	4.29	0.955	-0.241	0.13043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	L	0.31207	0.915	0.36646	D	0.877137	P	0.37525	0.598	B	0.37267	0.245	T	0.58707	-0.7589	9	0.30854	T	0.27	.	3.1976	0.06639	0.2947:0.4126:0.2927:0.0	.	485	Q96JC4	ZN479_HUMAN	I	485	ENSP00000333776:R485I	ENSP00000333776:R485I	R	-	2	0	ZNF479	57191610	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.345000	0.19979	-0.412000	0.07519	-0.410000	0.06199	AGA		0.403	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF680	340252	broad.mit.edu	37	7	63982511	63982511	+	Missense_Mutation	SNP	C	C	A	rs145625716	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:63982511C>A	ENST00000309683.6	-	4	772	c.621G>T	c.(619-621)gaG>gaT	p.E207D	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	207					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.E207D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TGTAAGAATTCTCTCTAGTGT	0.338																																					p.E207D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G621T	7						.	C	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	63.0	64.0	63.0		621	0.0	0.0	7	dbSNP_134	63	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZNF680	NM_178558.4	45	0,7,6496	AA,AC,CC		0.0698,0.0227,0.0538	benign	207/531	63982511	7,12999	2203	4300	6503	63619946	SO:0001583	missense	340252	exon4			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.621G>T	7.37:g.63982511C>A	ENSP00000309330:p.Glu207Asp		63619946	NM_178558	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	c	8.706	0.910809	0.17833	2.27E-4	6.98E-4	ENSG00000173041	ENST00000309683	T	0.19806	2.12	1.36	0.0327	0.14176	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	L	0.49571	1.57	0.80722	D	1	B	0.32350	0.366	B	0.34824	0.19	T	0.07271	-1.0781	9	0.51188	T	0.08	.	3.7845	0.08694	0.0:0.6731:0.0:0.3269	.	207	Q8NEM1	ZN680_HUMAN	D	207	ENSP00000309330:E207D	ENSP00000309330:E207D	E	-	3	2	ZNF680	63619946	0.939000	0.31865	0.002000	0.10522	0.010000	0.07245	0.005000	0.13129	-0.178000	0.10672	0.491000	0.48974	GAG		0.338	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558	
ZNF107	51427	broad.mit.edu	37	7	64166725	64166725	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64166725G>T	ENST00000395391.1	+	4	1418	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	ZNF107_ENST00000344930.3_Missense_Mutation_p.D15Y|ZNF107_ENST00000423627.1_Missense_Mutation_p.D15Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	15					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.D15Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTGCCCAAGACCTTTGGCC	0.308																																					p.D15Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43T	7						.						49.0	50.0	49.0					7																	64166725		2201	4298	6499	63804160	SO:0001583	missense	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.43G>T	7.37:g.64166725G>T	ENSP00000378789:p.Asp15Tyr		63804160	NM_001013746		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.446895	0.43429	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.11277	4.21;2.79;2.79;2.79	1.2	0.147	0.14838	.	.	.	.	.	T	0.14356	0.0347	M	0.85777	2.775	0.26318	N	0.977711	B	0.31009	0.303	B	0.31337	0.128	T	0.27839	-1.0062	9	0.54805	T	0.06	.	2.9933	0.05990	0.36:0.0:0.64:0.0	.	15	Q9UII5	ZN107_HUMAN	Y	15	ENSP00000353234:D15Y;ENSP00000343443:D15Y;ENSP00000400037:D15Y;ENSP00000378789:D15Y	ENSP00000343443:D15Y	D	+	1	0	ZNF107	63804160	0.000000	0.05858	0.277000	0.24703	0.498000	0.33706	0.030000	0.13688	0.570000	0.29347	0.305000	0.20034	GAC		0.308	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF107	51427	broad.mit.edu	37	7	64166954	64166954	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64166954C>T	ENST00000395391.1	+	4	1647	c.272C>T	c.(271-273)tCa>tTa	p.S91L	ZNF107_ENST00000344930.3_Missense_Mutation_p.S91L|ZNF107_ENST00000423627.1_Missense_Mutation_p.S91L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	91					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.S91L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTCAAATTCAAATAGATAT	0.313																																					p.S91L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C272T	7						.						33.0	33.0	33.0					7																	64166954		2203	4298	6501	63804389	SO:0001583	missense	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.272C>T	7.37:g.64166954C>T	ENSP00000378789:p.Ser91Leu		63804389	NM_001013746		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	2.376	-0.343208	0.05243	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.17054	4.17;2.3;2.3;2.3	0.916	-0.222	0.13122	.	.	.	.	.	T	0.04092	0.0114	N	0.00380	-1.58	0.09310	N	1	B	0.33266	0.404	B	0.43445	0.42	T	0.40776	-0.9545	9	0.02654	T	1	.	3.3357	0.07100	0.0:0.3785:0.0:0.6215	.	91	Q9UII5	ZN107_HUMAN	L	91	ENSP00000353234:S91L;ENSP00000343443:S91L;ENSP00000400037:S91L;ENSP00000378789:S91L	ENSP00000343443:S91L	S	+	2	0	ZNF107	63804389	0.000000	0.05858	0.209000	0.23619	0.204000	0.24138	0.289000	0.18957	0.300000	0.22699	0.305000	0.20034	TCA		0.313	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF107	51427	broad.mit.edu	37	7	64167711	64167711	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64167711T>G	ENST00000395391.1	+	4	2404	c.1029T>G	c.(1027-1029)ctT>ctG	p.L343L	ZNF107_ENST00000344930.3_Silent_p.L343L|ZNF107_ENST00000423627.1_Silent_p.L343L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	343					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.L343L(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCTCAACTCTTACTAGACATA	0.338																																					p.L343L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1029G	7						.						29.0	31.0	31.0					7																	64167711		2153	4270	6423	63805146	SO:0001819	synonymous_variant	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1029T>G	7.37:g.64167711T>G			63805146	NM_001013746		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF107	51427	broad.mit.edu	37	7	64168118	64168118	+	Missense_Mutation	SNP	G	G	A	rs370014833		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64168118G>A	ENST00000395391.1	+	4	2811	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	ZNF107_ENST00000344930.3_Missense_Mutation_p.R479Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.R479Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	479					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.R479Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GCTTTTAACCGATTCTCAACC	0.353																																					p.R479Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	7						.	G	GLN/ARG,GLN/ARG	0,4400		0,0,2200	27.0	29.0	28.0		1436,1436	1.3	0.3	7		28	1,8589		0,1,4294	no	missense,missense	ZNF107	NM_001013746.1,NM_016220.3	43,43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	479/784,479/784	64168118	1,12989	2200	4295	6495	63805553	SO:0001583	missense	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1436G>A	7.37:g.64168118G>A	ENSP00000378789:p.Arg479Gln		63805553	NM_001013746		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	0.720	-0.783979	0.02907	0.0	1.16E-4	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.35973	1.28;1.28;1.28	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15696	0.0378	N	0.20845	0.615	0.09310	N	1	P	0.36837	0.571	B	0.21546	0.035	T	0.11227	-1.0596	8	.	.	.	.	4.552	0.12117	0.0:0.0:0.6247:0.3752	.	479	Q9UII5	ZN107_HUMAN	Q	479	ENSP00000343443:R479Q;ENSP00000400037:R479Q;ENSP00000378789:R479Q	.	R	+	2	0	ZNF107	63805553	0.000000	0.05858	0.278000	0.24718	0.596000	0.36781	-2.160000	0.01279	0.635000	0.30488	0.313000	0.20887	CGA		0.353	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF273	10793	broad.mit.edu	37	7	64388677	64388677	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64388677G>A	ENST00000476120.1	+	4	1042	c.971G>A	c.(970-972)gGc>gAc	p.G324D	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.G259D	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G324D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GAAGAATGTGGCAAAGGCTTT	0.338																																					p.G324D	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	7						.						35.0	39.0	38.0					7																	64388677		2203	4298	6501	64026112	SO:0001583	missense	10793	exon4			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.971G>A	7.37:g.64388677G>A	ENSP00000418719:p.Gly324Asp		64026112	NM_021148	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350753	0.41599	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.58358	0.34;0.34	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37183	0.0994	N	0.20328	0.56	0.41841	D	0.99012	P	0.34977	0.478	B	0.39503	0.301	T	0.17745	-1.0359	9	0.59425	D	0.04	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	324	Q14593	ZN273_HUMAN	D	324;259	ENSP00000418719:G324D;ENSP00000324518:G259D	ENSP00000324518:G259D	G	+	2	0	ZNF273	64026112	0.998000	0.40836	0.349000	0.25694	0.348000	0.29142	1.731000	0.38135	0.202000	0.20498	0.205000	0.17691	GGC		0.338	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1		
ZNF117	51351	broad.mit.edu	37	7	64438639	64438639	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64438639C>A	ENST00000282869.6	-	4	2594	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R437I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTCC	0.353																																					p.R437I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1310T	7						.						63.0	67.0	66.0					7																	64438639		2116	4256	6372	64076074	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1310G>T	7.37:g.64438639C>A	ENSP00000282869:p.Arg437Ile		64076074	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	1.322	-0.599306	0.03744	.	.	ENSG00000152926	ENST00000282869	T	0.24908	1.83	1.1	-2.21	0.06973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	M	0.80422	2.495	0.38357	D	0.944494	B	0.02656	0.0	B	0.04013	0.001	T	0.34004	-0.9846	9	0.13108	T	0.6	.	8.4834	0.33057	0.2353:0.7647:0.0:0.0	.	437	Q03924	ZN117_HUMAN	I	437	ENSP00000282869:R437I	ENSP00000282869:R437I	R	-	2	0	ZNF117	64076074	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.109000	0.00293	-1.631000	0.01543	-0.852000	0.03032	AGA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
ZNF117	51351	broad.mit.edu	37	7	64439395	64439395	+	Missense_Mutation	SNP	C	C	A	rs368230173		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64439395C>A	ENST00000282869.6	-	4	1838	c.554G>T	c.(553-555)aGa>aTa	p.R185I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	185					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R185I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTCT	0.353																																					p.R185I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G554T	7						.	C	ILE/ARG	1,4307		0,1,2153	48.0	51.0	50.0		554	1.2	0.0	7		50	0,8552		0,0,4276	no	missense	ZNF117	NM_015852.3	97	0,1,6429	AA,AC,CC		0.0,0.0232,0.0078	benign	185/484	64439395	1,12859	2154	4276	6430	64076830	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.554G>T	7.37:g.64439395C>A	ENSP00000282869:p.Arg185Ile		64076830	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	11.16	1.557908	0.27827	2.32E-4	0.0	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.02446	4.29	1.2	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03011	0.0089	L	0.48877	1.53	0.44275	D	0.997138	B	0.19583	0.037	B	0.18561	0.022	T	0.44922	-0.9296	9	0.27082	T	0.32	.	7.8438	0.29414	0.0:1.0:0.0:0.0	.	185	Q03924	ZN117_HUMAN	I	185	ENSP00000282869:R185I	ENSP00000282869:R185I	R	-	2	0	ZNF117	64076830	0.000000	0.05858	0.024000	0.17045	0.630000	0.37929	-0.129000	0.10515	0.598000	0.29829	0.205000	0.17691	AGA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
ZNF117	51351	broad.mit.edu	37	7	64439479	64439479	+	Missense_Mutation	SNP	C	C	A	rs371560994		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64439479C>A	ENST00000282869.6	-	4	1754	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	157					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R157I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGAATTCTCTTATGTTT	0.348																																					p.R157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470T	7						.						52.0	54.0	53.0					7																	64439479		2135	4265	6400	64076914	SO:0001583	missense	51351	exon4			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.470G>T	7.37:g.64439479C>A	ENSP00000282869:p.Arg157Ile		64076914	NM_015852	Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386552	0.25031	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.24908	1.83	1.39	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	M	0.71296	2.17	0.43029	D	0.994596	P	0.38978	0.652	B	0.33392	0.163	T	0.05194	-1.0900	9	0.32370	T	0.25	.	4.764	0.13123	0.364:0.636:0.0:0.0	.	157	Q03924	ZN117_HUMAN	I	157	ENSP00000282869:R157I	ENSP00000282869:R157I	R	-	2	0	ZNF117	64076914	0.000000	0.05858	0.002000	0.10522	0.253000	0.25986	-4.997000	0.00161	0.731000	0.32448	0.205000	0.17691	AGA		0.348	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498	
ERV3-1	2086	broad.mit.edu	37	7	64452616	64452616	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64452616C>A	ENST00000394323.2	-	2	1289	c.789G>T	c.(787-789)caG>caT	p.Q263H	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	263						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)		p.Q263H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						caggcaatttctggttaacat	0.478																																					p.Q263H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G789T	7						.						50.0	50.0	50.0					7																	64452616		1887	4114	6001	64090051	SO:0001583	missense	51351	exon2			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.789G>T	7.37:g.64452616C>A	ENSP00000391594:p.Gln263His		64090051	NM_001007253		5'Flank	SNP	ENST00000394323.2	37	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	13.87	2.366707	0.41902	.	.	ENSG00000213462	ENST00000394323	T	0.12361	2.69	0.109	0.109	0.14578	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.20196	N	0.999926	D	0.53462	0.96	P	0.44518	0.452	T	0.30179	-0.9987	8	0.46703	T	0.11	.	.	.	.	.	263	Q14264	ENR1_HUMAN	H	263	ENSP00000391594:Q263H	ENSP00000391594:Q263H	Q	-	3	2	ERV3-1	64090051	0.409000	0.25368	0.744000	0.31058	0.748000	0.42578	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	CAG		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253	
ZNF92	168374	broad.mit.edu	37	7	64864629	64864629	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:64864629G>T	ENST00000328747.7	+	4	1801	c.1602G>T	c.(1600-1602)gaG>gaT	p.E534D	ZNF92_ENST00000431504.1_Missense_Mutation_p.E458D|ZNF92_ENST00000357512.2_Missense_Mutation_p.E502D|ZNF92_ENST00000450302.2_Missense_Mutation_p.E465D	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	534					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E534D(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATACTGGAGAGAAACCCTACA	0.358																																					p.E534D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1602T	7						.						42.0	49.0	47.0					7																	64864629		2202	4300	6502	64502064	SO:0001583	missense	168374	exon4			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1602G>T	7.37:g.64864629G>T	ENSP00000332595:p.Glu534Asp		64502064	NM_152626	A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772412	0.31411	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	0.418	0.418	0.16429	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25158	0.0611	M	0.61703	1.905	0.33307	D	0.565642	B;P	0.34864	0.023;0.473	B;B	0.42361	0.062;0.385	T	0.38993	-0.9635	9	0.56958	D	0.05	.	6.6212	0.22804	1.0E-4:0.0:0.9999:0.0	.	502;534	Q03936-3;Q03936	.;ZNF92_HUMAN	D	534;458;502;465	ENSP00000332595:E534D;ENSP00000400495:E458D;ENSP00000350113:E502D;ENSP00000396126:E465D	ENSP00000332595:E534D	E	+	3	2	ZNF92	64502064	0.987000	0.35691	0.174000	0.22961	0.176000	0.22953	0.292000	0.19011	0.452000	0.26830	0.460000	0.39030	GAG		0.358	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	
TMEM248	55069	broad.mit.edu	37	7	66410016	66410016	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:66410016G>T	ENST00000341567.4	+	3	468	c.213G>T	c.(211-213)gaG>gaT	p.E71D		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	71						integral component of membrane (GO:0016021)		p.E71D(1)									GTGTATCAGAGAATGAAACCC	0.502																																					p.E71D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G213T	7						.						84.0	77.0	79.0					7																	66410016		2203	4300	6503	66047451	SO:0001583	missense	55069	exon3				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.213G>T	7.37:g.66410016G>T	ENSP00000340668:p.Glu71Asp		66047451	NM_017994	Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144710	0.21288	.	.	ENSG00000106609	ENST00000341567;ENST00000413593;ENST00000424964;ENST00000418375	.	.	.	5.84	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	N	0.14661	0.345	0.52099	D	0.999948	B	0.06786	0.001	B	0.08055	0.003	T	0.07654	-1.0761	9	0.17369	T	0.5	-9.7594	8.6716	0.34154	0.1922:0.0:0.8078:0.0	.	71	Q9NWD8	CG042_HUMAN	D	71	.	ENSP00000340668:E71D	E	+	3	2	C7orf42	66047451	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	3.522000	0.53480	0.713000	0.32060	0.561000	0.74099	GAG		0.502	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994	
WBSCR17	64409	broad.mit.edu	37	7	70880999	70880999	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:70880999C>T	ENST00000333538.5	+	4	1348	c.714C>T	c.(712-714)acC>acT	p.T238T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	238	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T238T(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGTGGCTACCGGGCAGGTCA	0.567																																					p.T238T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C714T	7						.						84.0	71.0	75.0					7																	70880999		2203	4300	6503	70518935	SO:0001819	synonymous_variant	64409	exon4			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.714C>T	7.37:g.70880999C>T			70518935	NM_022479	Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
WBSCR17	64409	broad.mit.edu	37	7	71142268	71142268	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:71142268C>A	ENST00000333538.5	+	9	2111	c.1477C>A	c.(1477-1479)Ccg>Acg	p.P493T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P493T(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATATTGTATCCGTGCCATGG	0.537																																					p.P493T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1477A	7						.						190.0	188.0	189.0					7																	71142268		2203	4300	6503	70780204	SO:0001583	missense	64409	exon9			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1477C>A	7.37:g.71142268C>A	ENSP00000329654:p.Pro493Thr		70780204	NM_022479	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561876	0.65538	.	.	ENSG00000185274	ENST00000333538	T	0.26957	1.7	5.35	5.35	0.76521	Ricin B-related lectin (1);Ricin B lectin (3);	0.346611	0.34628	N	0.003804	T	0.48150	0.1484	M	0.73217	2.22	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.28996	-1.0026	10	0.11182	T	0.66	.	18.2305	0.89934	0.0:1.0:0.0:0.0	.	493	Q6IS24	GLTL3_HUMAN	T	493	ENSP00000329654:P493T	ENSP00000329654:P493T	P	+	1	0	WBSCR17	70780204	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.203000	0.77864	2.779000	0.95612	0.650000	0.86243	CCG		0.537	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
CALN1	83698	broad.mit.edu	37	7	71275379	71275379	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:71275379G>T	ENST00000329008.5	-	5	772	c.474C>A	c.(472-474)atC>atA	p.I158I	CALN1_ENST00000405452.2_Silent_p.I158I|CALN1_ENST00000395275.2_Silent_p.I200I|CALN1_ENST00000412588.1_Silent_p.I200I|CALN1_ENST00000395276.2_Silent_p.I158I|CALN1_ENST00000431984.1_Silent_p.I158I	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.I158I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTTCCTCATTGATAATGATGT	0.507																																					p.I200I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600A	7						.						212.0	171.0	185.0					7																	71275379		2203	4300	6503	70913315	SO:0001819	synonymous_variant	83698	exon6			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.474C>A	7.37:g.71275379G>T			70913315	NM_031468	J3KQA7	Silent	SNP	ENST00000329008.5	37	CCDS5541.1																																																																																				0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
CALN1	83698	broad.mit.edu	37	7	71488747	71488747	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:71488747G>A	ENST00000329008.5	-	4	568	c.270C>T	c.(268-270)ggC>ggT	p.G90G	CALN1_ENST00000405452.2_Silent_p.G90G|CALN1_ENST00000395275.2_Silent_p.G132G|CALN1_ENST00000412588.1_Silent_p.G132G|CALN1_ENST00000395276.2_Silent_p.G90G|CALN1_ENST00000431984.1_Silent_p.G90G	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	90	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.G90G(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AATCCACCTGGCCATCCCCTG	0.448																																					p.G132G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	7						.						107.0	89.0	95.0					7																	71488747		2203	4300	6503	71126683	SO:0001819	synonymous_variant	83698	exon5			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.270C>T	7.37:g.71488747G>A			71126683	NM_031468	J3KQA7	Silent	SNP	ENST00000329008.5	37	CCDS5541.1																																																																																				0.448	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
TRIM50	135892	broad.mit.edu	37	7	72732851	72732851	+	Silent	SNP	G	G	A	rs568335787		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:72732851G>A	ENST00000333149.2	-	4	896	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TRIM50_ENST00000453152.1_Silent_p.F232F	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	232						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F232F(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CCTCATTGCCGAACTGTTCCA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17354	0.001		0.0	False		,,,				2504	0.0				p.F232F												.	.	4	Substitution - coding silent(4)	large_intestine(2)|skin(2)	c.C696T	7						.						140.0	128.0	132.0					7																	72732851		2203	4300	6503	72370787	SO:0001819	synonymous_variant	135892	exon4			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.696C>T	7.37:g.72732851G>A			72370787	NM_178125	Q86XT3	Silent	SNP	ENST00000333149.2	37	CCDS34654.1																																																																																				0.657	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125	
BAZ1B	9031	broad.mit.edu	37	7	72907227	72907227	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:72907227C>T	ENST00000339594.4	-	5	934	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R199Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	199	Mediates the tyrosine-protein kinase activity.				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.R199Q(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)				AGGAAGTTTTCGTGGCGATCT	0.323																																					p.R199Q	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G596A	7						.						134.0	128.0	130.0					7																	72907227		2202	4300	6502	72545163	SO:0001583	missense	9031	exon5			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.596G>A	7.37:g.72907227C>T	ENSP00000342434:p.Arg199Gln		72545163	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326375	0.95708	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60040	0.22;0.22	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	L	0.32530	0.975	0.53005	D	0.999968	D	0.76494	0.999	P	0.61275	0.886	T	0.54323	-0.8311	10	0.14252	T	0.57	-5.1657	18.4101	0.90549	0.0:1.0:0.0:0.0	.	199	Q9UIG0	BAZ1B_HUMAN	Q	199	ENSP00000342434:R199Q;ENSP00000385442:R199Q	ENSP00000342434:R199Q	R	-	2	0	BAZ1B	72545163	0.998000	0.40836	0.992000	0.48379	0.986000	0.74619	5.239000	0.65371	2.690000	0.91761	0.585000	0.79938	CGA		0.323	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
WBSCR22	114049	broad.mit.edu	37	7	73098102	73098102	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:73098102T>C	ENST00000265758.2	+	2	112	c.54T>C	c.(52-54)taT>taC	p.Y18Y	WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000423497.1_Silent_p.Y18Y|DNAJC30_ENST00000395176.2_5'Flank|WBSCR22_ENST00000423166.2_Missense_Mutation_p.M9T	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	18					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.Y18Y(1)		autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGCAGTTTTATGACGAGACAG	0.592																																					p.Y18Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T54C	7						.						73.0	83.0	79.0					7																	73098102		2203	4300	6503	72736038	SO:0001819	synonymous_variant	114049	exon2			AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.54T>C	7.37:g.73098102T>C			72736038	NM_017528	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Silent	SNP	ENST00000265758.2	37	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480111	0.26598	.	.	ENSG00000071462	ENST00000423166	.	.	.	5.3	0.678	0.17969	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.24665	N	0.993446	.	.	.	.	.	.	T	0.39313	-0.9620	5	0.87932	D	0	-7.9303	7.5458	0.27766	0.0:0.584:0.0:0.416	.	.	.	.	T	9	.	ENSP00000397056:M9T	M	+	2	0	WBSCR22	72736038	1.000000	0.71417	0.938000	0.37757	0.035000	0.12851	0.973000	0.29422	-0.055000	0.13244	-0.371000	0.07208	ATG		0.592	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		
LAT2	7462	broad.mit.edu	37	7	73636006	73636006	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:73636006C>T	ENST00000460943.1	+	10	1261	c.372C>T	c.(370-372)ttC>ttT	p.F124F	LAT2_ENST00000398475.1_Silent_p.F124F|LAT2_ENST00000275635.7_Silent_p.F124F|LAT2_ENST00000344995.5_Silent_p.F124F	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.F124F(1)|p.F124L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGGGCGGTTCTCGAAGCCCC	0.587																																					p.F124F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C372T	7						.						92.0	99.0	97.0					7																	73636006		1874	4105	5979	73273942	SO:0001819	synonymous_variant	7462	exon10			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.372C>T	7.37:g.73636006C>T			73273942	NM_032463	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000460943.1	37	CCDS5566.2																																																																																				0.587	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1		
HIP1	3092	broad.mit.edu	37	7	75168733	75168733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75168733C>A	ENST00000336926.6	-	30	2997	c.2971G>T	c.(2971-2973)Gaa>Taa	p.E991*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E940*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	991	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.E993*(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AATTCATTTTCTAGCTCTAGC	0.418			T	PDGFRB	CMML																																p.E991X			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2971T	7						.						208.0	208.0	208.0					7																	75168733		2203	4300	6503	75006669	SO:0001587	stop_gained	3092	exon30			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2971G>T	7.37:g.75168733C>A	ENSP00000336747:p.Glu991*		75006669	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	41	8.815001	0.98964	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.8834	17.8985	0.88896	0.0:1.0:0.0:0.0	.	.	.	.	X	991;940	.	ENSP00000336747:E991X	E	-	1	0	HIP1	75006669	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.488000	0.81441	2.652000	0.90054	0.655000	0.94253	GAA		0.418	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
HIP1	3092	broad.mit.edu	37	7	75211410	75211410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75211410C>A	ENST00000336926.6	-	6	549	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E175*|RN7SL642P_ENST00000581382.1_RNA	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	175					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.E175*(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACGTCACTTTCTCCAGCCTCG	0.562			T	PDGFRB	CMML																																p.E175X			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G523T	7						.						91.0	68.0	76.0					7																	75211410		2203	4300	6503	75049346	SO:0001587	stop_gained	3092	exon6			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.523G>T	7.37:g.75211410C>A	ENSP00000336747:p.Glu175*		75049346	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776885	0.90195	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-27.3923	18.1538	0.89686	0.0:1.0:0.0:0.0	.	.	.	.	X	175;175;146	.	ENSP00000336747:E175X	E	-	1	0	HIP1	75049346	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.459000	0.80802	2.530000	0.85305	0.561000	0.74099	GAA		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
STYXL1	51657	broad.mit.edu	37	7	75659820	75659820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75659820C>A	ENST00000248600.1	-	2	364	c.22G>T	c.(22-24)Gaa>Taa	p.E8*	STYXL1_ENST00000360591.3_Nonsense_Mutation_p.E8*|STYXL1_ENST00000431581.1_Nonsense_Mutation_p.E8*|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Nonsense_Mutation_p.E8*|STYXL1_ENST00000451157.1_Nonsense_Mutation_p.E8*|STYXL1_ENST00000359697.3_Nonsense_Mutation_p.E8*	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	8					intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E8*(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TCTGTTGGTTCACATAAAAGC	0.373																																					p.E8X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G22T	7						.						109.0	94.0	99.0					7																	75659820		2203	4300	6503	75497756	SO:0001587	stop_gained	51657	exon2			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.22G>T	7.37:g.75659820C>A	ENSP00000248600:p.Glu8*		75497756	NM_016086	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Nonsense_Mutation	SNP	ENST00000248600.1	37	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	C	37	6.197748	0.97367	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000360591;ENST00000431581;ENST00000451157	.	.	.	5.62	5.62	0.85841	.	0.188792	0.46145	D	0.000312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-27.2304	10.5614	0.45148	0.0:0.9123:0.0:0.0877	.	.	.	.	X	8	.	ENSP00000248600:E8X	E	-	1	0	STYXL1	75497756	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.442000	0.52900	2.652000	0.90054	0.650000	0.86243	GAA		0.373	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086	
MDH2	4191	broad.mit.edu	37	7	75689759	75689759	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75689759C>A	ENST00000315758.5	+	5	592	c.498C>A	c.(496-498)atC>atA	p.I166I	MDH2_ENST00000443006.1_Silent_p.I59I|MDH2_ENST00000432020.2_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	166					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)	p.I166I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						CCAACAAAATCTTCGGCGTGA	0.517																																					p.I166I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498A	7						.						151.0	123.0	132.0					7																	75689759		2203	4300	6503	75527695	SO:0001819	synonymous_variant	4191	exon5				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.498C>A	7.37:g.75689759C>A			75527695	NM_005918	A8K414|B2RE78|B4DE44|E9PDB2|O43682	Silent	SNP	ENST00000315758.5	37	CCDS5581.1																																																																																				0.517	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252851.1		
SRRM3	222183	broad.mit.edu	37	7	75894123	75894123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75894123G>T	ENST00000326382.8	+	9	922	c.715G>T	c.(715-717)Gag>Tag	p.E239*	SRRM3_ENST00000388802.4_Nonsense_Mutation_p.E239*	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	239	Arg-rich.|Lys-rich.|Ser-rich.							p.E239*(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GAAGAACAAAGAgaagaagag	0.552																																					p.E239X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G715T	7						.						116.0	117.0	117.0					7																	75894123		1568	3582	5150	75732059	SO:0001587	stop_gained	222183	exon9			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.715G>T	7.37:g.75894123G>T	ENSP00000325298:p.Glu239*		75732059	NM_001110199	A6ND75	Nonsense_Mutation	SNP	ENST00000326382.8	37		.	.	.	.	.	.	.	.	.	.	G	38	7.122563	0.98077	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	.	.	.	4.23	4.23	0.50019	.	0.416092	0.19940	N	0.102675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-20.941	13.8229	0.63333	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000325298:E239X	E	+	1	0	SRRM3	75732059	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.220000	0.51207	2.361000	0.80049	0.555000	0.69702	GAG		0.552	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199	
DTX2	113878	broad.mit.edu	37	7	76126737	76126737	+	Missense_Mutation	SNP	C	C	T	rs145964625		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:76126737C>T	ENST00000324432.5	+	7	1603	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	DTX2_ENST00000430490.2_Missense_Mutation_p.R365C|DTX2_ENST00000307569.8_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.R365C|DTX2_ENST00000446600.1_Missense_Mutation_p.R274C|DTX2_ENST00000446820.2_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	365					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R365C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCCCGCCTCCCGTCTGGCTTC	0.557																																					p.R365C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1093T	7						.						34.0	34.0	34.0					7																	76126737		2199	4273	6472	75964673	SO:0001583	missense	113878	exon5				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1093C>T	7.37:g.76126737C>T	ENSP00000322885:p.Arg365Cys		75964673	NM_001102595	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.224425	0.39300	.	.	ENSG00000091073	ENST00000324432;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490	T;T;T;T	0.12147	2.72;2.71;2.72;2.72	5.41	-3.71	0.04424	.	1.247470	0.05079	N	0.483163	T	0.07188	0.0182	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.0	T	0.22243	-1.0222	10	0.42905	T	0.14	-0.0088	12.0171	0.53319	0.1235:0.6798:0.0:0.1966	.	274;274;365	F5GX89;E7ET89;Q86UW9	.;.;DTX2_HUMAN	C	365;274;274;365;365	ENSP00000322885:R365C;ENSP00000397648:R274C;ENSP00000390218:R365C;ENSP00000411986:R365C	ENSP00000322885:R365C	R	+	1	0	AC005522.1	75964673	0.878000	0.30173	0.971000	0.41717	0.991000	0.79684	-0.087000	0.11215	-0.633000	0.05545	-0.302000	0.09304	CGT		0.557	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
FGL2	10875	broad.mit.edu	37	7	76826265	76826265	+	Silent	SNP	G	G	A	rs566096585		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:76826265G>A	ENST00000248598.5	-	2	683	c.651C>T	c.(649-651)taC>taT	p.Y217Y	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	217	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.Y217Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TGCCTATTGCGTAGTAGTCAG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21238	0.001		0.0	False		,,,				2504	0.0				p.Y217Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C651T	7						.						72.0	69.0	70.0					7																	76826265		2201	4289	6490	76664201	SO:0001819	synonymous_variant	10875	exon2			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.651C>T	7.37:g.76826265G>A			76664201	NM_006682		Silent	SNP	ENST00000248598.5	37	CCDS5591.1																																																																																				0.398	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
CCDC146	57639	broad.mit.edu	37	7	76911946	76911946	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:76911946G>T	ENST00000285871.4	+	15	2119	c.1992G>T	c.(1990-1992)atG>atT	p.M664I	CCDC146_ENST00000431197.1_Missense_Mutation_p.M378I|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	664								p.M664I(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAGAGAAGATGAAACTAAATG	0.358																																					p.M664I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1992T	7						.						40.0	39.0	39.0					7																	76911946		2203	4300	6503	76749882	SO:0001583	missense	57639	exon15			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1992G>T	7.37:g.76911946G>T	ENSP00000285871:p.Met664Ile		76749882	NM_020879	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860080	0.32884	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.38401	1.14;1.14	5.24	4.35	0.52113	.	0.450082	0.28828	N	0.014002	T	0.21509	0.0518	N	0.16602	0.42	0.34831	D	0.739715	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.003	T	0.17198	-1.0377	10	0.33141	T	0.24	-5.9984	9.2009	0.37258	0.0754:0.0:0.7806:0.144	.	378;664	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	I	664;378	ENSP00000285871:M664I;ENSP00000413885:M378I	ENSP00000285871:M664I	M	+	3	0	AC007000.1	76749882	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.270000	0.51600	1.307000	0.44944	0.655000	0.94253	ATG		0.358	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
CCDC146	57639	broad.mit.edu	37	7	76916810	76916810	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:76916810C>A	ENST00000285871.4	+	17	2458	c.2331C>A	c.(2329-2331)atC>atA	p.I777I	CCDC146_ENST00000431197.1_Silent_p.I491I|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	777								p.I777I(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGGATTTCATCTATGAGCAGG	0.473																																					p.I777I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2331A	7						.						81.0	80.0	80.0					7																	76916810		2203	4300	6503	76754746	SO:0001819	synonymous_variant	57639	exon17			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2331C>A	7.37:g.76916810C>A			76754746	NM_020879	A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																				0.473	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
PTPN12	5782	broad.mit.edu	37	7	77256279	77256279	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77256279A>C	ENST00000248594.6	+	13	1555	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T	PTPN12_ENST00000435495.2_Missense_Mutation_p.K298T|PTPN12_ENST00000415482.2_Missense_Mutation_p.K309T	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	428	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.K428T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CAGATAGATAAAAAATTGGAA	0.358																																					p.K298T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A893C	7						.						38.0	41.0	40.0					7																	77256279		2199	4299	6498	77094215	SO:0001583	missense	5782	exon12				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1283A>C	7.37:g.77256279A>C	ENSP00000248594:p.Lys428Thr		77094215	NM_001131009	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784099	0.70222	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.08807	3.63;3.05;3.05	6.17	6.17	0.99709	.	0.291855	0.39687	N	0.001293	T	0.22205	0.0535	M	0.72353	2.195	0.46336	D	0.998992	P	0.51933	0.949	P	0.52267	0.694	T	0.00138	-1.2002	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	428	Q05209	PTN12_HUMAN	T	428;309;309;298	ENSP00000248594:K428T;ENSP00000392429:K309T;ENSP00000397991:K298T	ENSP00000248594:K428T	K	+	2	0	PTPN12	77094215	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.117000	0.57877	2.371000	0.80710	0.533000	0.62120	AAA		0.358	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
PTPN12	5782	broad.mit.edu	37	7	77268548	77268548	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77268548G>A	ENST00000248594.6	+	18	2566	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	PTPN12_ENST00000435495.2_Missense_Mutation_p.R635Q|PTPN12_ENST00000415482.2_Missense_Mutation_p.R646Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	765					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.R765Q(2)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGGTAATCGATGTGGAAAA	0.388																																					p.R635Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1904A	7						.						141.0	138.0	139.0					7																	77268548		2203	4300	6503	77106484	SO:0001583	missense	5782	exon17				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2294G>A	7.37:g.77268548G>A	ENSP00000248594:p.Arg765Gln		77106484	NM_001131009	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850011	0.71603	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495	T;T;T	0.23950	2.44;1.89;1.88	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.73962	2.25	0.40187	D	0.977363	D	0.89917	1.0	D	0.79108	0.992	T	0.54866	-0.8229	10	0.87932	D	0	.	14.0096	0.64488	0.0:0.0:0.8487:0.1513	.	765	Q05209	PTN12_HUMAN	Q	765;646;635	ENSP00000248594:R765Q;ENSP00000392429:R646Q;ENSP00000397991:R635Q	ENSP00000248594:R765Q	R	+	2	0	PTPN12	77106484	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.548000	0.67255	2.590000	0.87494	0.579000	0.79373	CGA		0.388	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
RSBN1L	222194	broad.mit.edu	37	7	77365830	77365830	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77365830G>T	ENST00000334955.8	+	2	717	c.690G>T	c.(688-690)aaG>aaT	p.K230N	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	230	Lys-rich.					nucleus (GO:0005634)		p.K230N(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						gagaagtaaagaTTTTGCTGA	0.249																																					p.K230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	7						.						87.0	92.0	91.0					7																	77365830		1793	4061	5854	77203766	SO:0001583	missense	222194	exon2			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.690G>T	7.37:g.77365830G>T	ENSP00000334040:p.Lys230Asn		77203766	NM_198467	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528642	0.44969	.	.	ENSG00000187257	ENST00000334955	T	0.08807	3.05	3.93	3.05	0.35203	.	0.085303	0.53938	D	0.000053	T	0.09069	0.0224	L	0.44542	1.39	0.80722	D	1	P	0.41265	0.744	B	0.44044	0.439	T	0.26360	-1.0105	10	0.29301	T	0.29	-3.8103	7.7731	0.29021	0.1135:0.0:0.8865:0.0	.	230	Q6PCB5	RSBNL_HUMAN	N	230	ENSP00000334040:K230N	ENSP00000334040:K230N	K	+	3	2	RSBN1L	77203766	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.971000	0.29396	1.232000	0.43678	-0.150000	0.13652	AAG		0.249	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
RSBN1L	222194	broad.mit.edu	37	7	77379339	77379339	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77379339G>T	ENST00000334955.8	+	3	1329	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	RSBN1L_ENST00000445288.1_Missense_Mutation_p.K164N	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	434						nucleus (GO:0005634)		p.K434N(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTGGGAAAGAAAGATATAG	0.299																																					p.K434N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1302T	7						.						75.0	68.0	71.0					7																	77379339		1799	4064	5863	77217275	SO:0001583	missense	222194	exon3			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1302G>T	7.37:g.77379339G>T	ENSP00000334040:p.Lys434Asn		77217275	NM_198467	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522398	0.64747	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.95	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	L	0.57536	1.79	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.77289	-0.2643	9	0.72032	D	0.01	-19.3473	13.0844	0.59132	0.1316:0.0:0.8684:0.0	.	434	Q6PCB5	RSBNL_HUMAN	N	434;164	.	ENSP00000334040:K434N	K	+	3	2	RSBN1L	77217275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.690000	0.74567	1.532000	0.49169	0.655000	0.94253	AAG		0.299	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
TMEM60	85025	broad.mit.edu	37	7	77423409	77423409	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77423409G>T	ENST00000257663.3	-	2	658	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	94						integral component of membrane (GO:0016021)		p.L94L(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GTTTAGCACAGAGTGCGAGGC	0.418																																					p.L94L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	7						.						147.0	141.0	143.0					7																	77423409		2203	4300	6503	77261345	SO:0001819	synonymous_variant	85025	exon2			AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.282C>A	7.37:g.77423409G>T			77261345	NM_032936	A4D1C3|Q86UM0	Silent	SNP	ENST00000257663.3	37	CCDS5593.1																																																																																				0.418	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936	
PHTF2	57157	broad.mit.edu	37	7	77558637	77558637	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77558637T>G	ENST00000248550.7	+	11	1407	c.1331T>G	c.(1330-1332)tTt>tGt	p.F444C	PHTF2_ENST00000422959.2_Missense_Mutation_p.F410C|PHTF2_ENST00000416283.2_Missense_Mutation_p.F410C|PHTF2_ENST00000424760.1_Missense_Mutation_p.F406C|PHTF2_ENST00000275575.7_Missense_Mutation_p.F406C|PHTF2_ENST00000307305.8_Missense_Mutation_p.F406C|PHTF2_ENST00000454592.1_3'UTR			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F444C(1)|p.F410C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GATGACCCTTTTCATCAGGTT	0.358																																					p.F406C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1217G	7						.						131.0	125.0	127.0					7																	77558637		1849	4102	5951	77396573	SO:0001583	missense	57157	exon9			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1331T>G	7.37:g.77558637T>G	ENSP00000248550:p.Phe444Cys		77396573	NM_020432	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	T	21.7	4.193909	0.78902	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.87578	0.998;0.891;0.976;0.998;0.997;0.982;0.987	T	0.78922	-0.2013	9	0.62326	D	0.03	-20.3122	15.9998	0.80285	0.0:0.0:0.0:1.0	.	248;406;269;410;444;406;406	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;.;PHTF2_HUMAN;.;.	C	410;410;406;406;406;410;444	.	ENSP00000248550:F444C	F	+	2	0	PHTF2	77396573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.481000	0.81124	2.189000	0.69895	0.533000	0.62120	TTT		0.358	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
PHTF2	57157	broad.mit.edu	37	7	77569515	77569515	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77569515G>T	ENST00000248550.7	+	13	1712	c.1636G>T	c.(1636-1638)Gat>Tat	p.D546Y	PHTF2_ENST00000422959.2_Missense_Mutation_p.D512Y|PHTF2_ENST00000416283.2_Missense_Mutation_p.D512Y|PHTF2_ENST00000424760.1_Missense_Mutation_p.D508Y|PHTF2_ENST00000275575.7_Missense_Mutation_p.D508Y|PHTF2_ENST00000307305.8_Missense_Mutation_p.D508Y			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D546Y(1)|p.D512Y(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCTAATGAAGATGTCATAGT	0.358																																					p.D508Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1522T	7						.						143.0	132.0	135.0					7																	77569515		1850	4100	5950	77407451	SO:0001583	missense	57157	exon11			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1636G>T	7.37:g.77569515G>T	ENSP00000248550:p.Asp546Tyr		77407451	NM_020432	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	G	19.78	3.891845	0.72524	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.994;0.989;0.995	D;D;D;P;P;P	0.91635	0.964;0.939;0.999;0.852;0.788;0.862	T	0.73411	-0.3991	9	0.48119	T	0.1	-17.3746	19.9854	0.97342	0.0:0.0:1.0:0.0	.	307;508;512;546;508;508	Q8WVD6;Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	Y	512;512;508;508;508;512;546	.	ENSP00000248550:D546Y	D	+	1	0	PHTF2	77407451	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.802000	0.85969	2.722000	0.93159	0.557000	0.71058	GAT		0.358	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
MAGI2	9863	broad.mit.edu	37	7	77885532	77885532	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77885532G>T	ENST00000354212.4	-	10	2028	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	MAGI2_ENST00000535697.1_Missense_Mutation_p.S429Y|MAGI2_ENST00000536571.1_Missense_Mutation_p.S424Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.S592Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.S592Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	592					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.S592Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAAGCCATAGACACATTGTC	0.532																																					p.S592Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1775A	7						.						90.0	81.0	84.0					7																	77885532		2203	4300	6503	77723468	SO:0001583	missense	9863	exon10			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1775C>A	7.37:g.77885532G>T	ENSP00000346151:p.Ser592Tyr		77723468	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911439	0.72983	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.85	5.85	0.93711	PDZ/DHR/GLGF (1);	0.000000	0.35677	U	0.003059	T	0.71467	0.3343	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.993;0.998;0.998;0.997;0.998	D;D;D;D;D;D	0.78314	0.987;0.964;0.991;0.991;0.935;0.991	T	0.73560	-0.3944	10	0.87932	D	0	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	429;424;592;592;592;592	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	Y	592;592;592;592;424;429	ENSP00000405766:S592Y;ENSP00000346151:S592Y;ENSP00000428389:S592Y;ENSP00000441584:S424Y;ENSP00000441603:S429Y	ENSP00000346151:S592Y	S	-	2	0	MAGI2	77723468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.771000	0.95319	0.561000	0.74099	TCT		0.532	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
MAGI2	9863	broad.mit.edu	37	7	77998491	77998491	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:77998491T>C	ENST00000354212.4	-	7	1338	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	MAGI2_ENST00000535697.1_Missense_Mutation_p.Y199C|MAGI2_ENST00000536571.1_Missense_Mutation_p.Y194C|MAGI2_ENST00000419488.1_Missense_Mutation_p.Y362C|MAGI2_ENST00000522391.1_Missense_Mutation_p.Y362C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	362	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.Y362C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATAAGTGCCATAAATGGGATC	0.279																																					p.Y362C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1085G	7						.						67.0	68.0	68.0					7																	77998491		2202	4300	6502	77836427	SO:0001583	missense	9863	exon7			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1085A>G	7.37:g.77998491T>C	ENSP00000346151:p.Tyr362Cys		77836427	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630029	0.67015	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.95	5.95	0.96441	WW/Rsp5/WWP (6);	0.000000	0.33650	U	0.004697	D	0.92648	0.7664	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.982;0.998;0.999	D	0.93945	0.7227	10	0.87932	D	0	.	15.6048	0.76658	0.0:0.0:0.0:1.0	.	199;194;362;362	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	C	362;362;362;362;194;199	ENSP00000405766:Y362C;ENSP00000346151:Y362C;ENSP00000428389:Y362C;ENSP00000441584:Y194C;ENSP00000441603:Y199C	ENSP00000346151:Y362C	Y	-	2	0	MAGI2	77836427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.258000	0.78371	2.279000	0.76181	0.533000	0.62120	TAT		0.279	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
MAGI2	9863	broad.mit.edu	37	7	79082603	79082603	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:79082603T>G	ENST00000354212.4	-	1	287	c.34A>C	c.(34-36)Act>Cct	p.T12P	MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.T12P|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.T12P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	12					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.T12P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTTTGCTAGTCCAGTGGCTT	0.582																																					p.T12P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A34C	7						.						86.0	98.0	94.0					7																	79082603		2203	4300	6503	78920539	SO:0001583	missense	9863	exon1			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.34A>C	7.37:g.79082603T>G	ENSP00000346151:p.Thr12Pro		78920539	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043893	0.75732	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.11495	2.88;2.88;2.77	5.17	5.17	0.71159	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.30135	0.0755	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.998;0.981	D;P	0.65010	0.931;0.69	T	0.02307	-1.1179	9	0.59425	D	0.04	.	14.1738	0.65527	0.0:0.0:0.0:1.0	.	12;12	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	P	12	ENSP00000405766:T12P;ENSP00000346151:T12P;ENSP00000428389:T12P	ENSP00000346151:T12P	T	-	1	0	MAGI2	78920539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.860000	0.86993	1.943000	0.56356	0.402000	0.26972	ACT		0.582	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
GNAI1	2770	broad.mit.edu	37	7	79840352	79840352	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:79840352G>A	ENST00000351004.3	+	6	1031	c.658G>A	c.(658-660)Gcg>Acg	p.A220T	GNAI1_ENST00000457358.2_Missense_Mutation_p.A168T	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	220					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A220T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGGAGTGACGGCGATCATCTT	0.428																																					p.A220T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G658A	7						.						166.0	136.0	146.0					7																	79840352		2203	4300	6503	79678288	SO:0001583	missense	2770	exon6			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.658G>A	7.37:g.79840352G>A	ENSP00000343027:p.Ala220Thr		79678288	NM_002069	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061085	0.93846	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.91407	-2.84;-2.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.82433	2.59	0.80722	D	1	P	0.50272	0.933	D	0.63033	0.91	D	0.94758	0.7933	9	.	.	.	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	220	P63096	GNAI1_HUMAN	T	220;168	ENSP00000343027:A220T;ENSP00000410572:A168T	.	A	+	1	0	GNAI1	79678288	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	7.820000	0.86633	2.685000	0.91497	0.650000	0.86243	GCG		0.428	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
GNAT3	346562	broad.mit.edu	37	7	80141148	80141148	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:80141148C>A	ENST00000398291.3	-	1	188	c.95G>T	c.(94-96)aGa>aTa	p.R32I	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	32					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.R32I(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTTTACGGTTCTTGCATCTCG	0.373																																					p.R32I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G95T	7						.						91.0	92.0	92.0					7																	80141148		2022	4183	6205	79979084	SO:0001583	missense	346562	exon1				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.95G>T	7.37:g.80141148C>A	ENSP00000381339:p.Arg32Ile		79979084	NM_001102386	A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497409	0.64186	.	.	ENSG00000214415	ENST00000398291	D	0.89681	-2.55	5.17	5.17	0.71159	.	0.059984	0.64402	U	0.000002	D	0.94771	0.8312	M	0.92970	3.365	0.53005	D	0.999964	D	0.55385	0.971	P	0.62740	0.906	D	0.95280	0.8385	9	.	.	.	.	11.3325	0.49484	0.0:0.9143:0.0:0.0857	.	32	A8MTJ3	GNAT3_HUMAN	I	32	ENSP00000381339:R32I	.	R	-	2	0	GNAT3	79979084	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	3.235000	0.51328	2.570000	0.86706	0.655000	0.94253	AGA		0.373	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
SEMA3C	10512	broad.mit.edu	37	7	80394557	80394557	+	Missense_Mutation	SNP	G	G	A	rs147463830		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:80394557G>A	ENST00000265361.3	-	13	1918	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	SEMA3C_ENST00000419255.2_Missense_Mutation_p.R453W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R471W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R453W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGTACCCCGATCTAAATTA	0.358																																					p.R453W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1357T	7						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	70.0		1357	5.7	1.0	7	dbSNP_134	70	0,8600		0,0,4300	no	missense	SEMA3C	NM_006379.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	453/752	80394557	1,13005	2203	4300	6503	80232493	SO:0001583	missense	10512	exon13			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1357C>T	7.37:g.80394557G>A	ENSP00000265361:p.Arg453Trp		80232493	NM_006379	B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638796	0.67130	2.27E-4	0.0	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.11712	2.75;2.75;2.75	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.226724	0.44902	D	0.000418	T	0.25044	0.0608	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.992;0.994	P;P	0.61722	0.828;0.893	T	0.00035	-1.2262	10	0.66056	D	0.02	.	14.8863	0.70572	0.0:0.0:0.8565:0.1434	.	471;453	F5H1Z7;Q99985	.;SEM3C_HUMAN	W	453;453;471	ENSP00000265361:R453W;ENSP00000411193:R453W;ENSP00000445649:R471W	ENSP00000265361:R453W	R	-	1	2	SEMA3C	80232493	0.999000	0.42202	1.000000	0.80357	0.542000	0.35054	3.186000	0.50942	2.830000	0.97506	0.585000	0.79938	CGG		0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
HGF	3082	broad.mit.edu	37	7	81336625	81336625	+	Nonsense_Mutation	SNP	G	G	A	rs527951814		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:81336625G>A	ENST00000222390.5	-	14	1823	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R528*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	533	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.R533*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAACACTGTCGTGCAGTAAGA	0.353													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17341	0.0		0.0	False		,,,				2504	0.0				p.R533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1597T	7						.						97.0	94.0	95.0					7																	81336625		2202	4300	6502	81174561	SO:0001587	stop_gained	3082	exon14				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1597C>T	7.37:g.81336625G>A	ENSP00000222390:p.Arg533*		81174561	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319659	0.97471	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.57	1.72	0.24424	.	0.089431	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	13.3645	0.60676	0.0:0.0:0.3927:0.6073	.	.	.	.	X	533;528	.	ENSP00000222390:R533X	R	-	1	2	HGF	81174561	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.367000	0.44213	0.106000	0.17784	-0.485000	0.04761	CGA		0.353	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HGF	3082	broad.mit.edu	37	7	81346553	81346553	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:81346553G>T	ENST00000222390.5	-	11	1626	c.1400C>A	c.(1399-1401)tCt>tAt	p.S467Y	HGF_ENST00000457544.2_Missense_Mutation_p.S462Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	467	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.S467Y(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTTACAACGAGAAATAGGGCA	0.378																																					p.S467Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1400A	7						.						172.0	141.0	152.0					7																	81346553		2203	4300	6503	81184489	SO:0001583	missense	3082	exon11				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1400C>A	7.37:g.81346553G>T	ENSP00000222390:p.Ser467Tyr		81184489	NM_000601	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960355	0.53400	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.63417	-0.04;-0.04	6.02	5.14	0.70334	Kringle (4);Kringle-like fold (1);	0.218049	0.48767	D	0.000168	T	0.72170	0.3427	M	0.83483	2.645	0.80722	D	1	B;B	0.28933	0.191;0.228	B;B	0.39531	0.2;0.302	T	0.74506	-0.3643	10	0.72032	D	0.01	.	15.4479	0.75248	0.0664:0.0:0.9336:0.0	.	462;467	P14210-3;P14210	.;HGF_HUMAN	Y	467;462	ENSP00000222390:S467Y;ENSP00000391238:S462Y	ENSP00000222390:S467Y	S	-	2	0	HGF	81184489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.353000	0.59411	1.548000	0.49413	0.650000	0.86243	TCT		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
HGF	3082	broad.mit.edu	37	7	81372780	81372780	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:81372780C>T	ENST00000222390.5	-	7	980	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HGF_ENST00000453411.1_Missense_Mutation_p.D247N|HGF_ENST00000457544.2_Missense_Mutation_p.D247N|HGF_ENST00000444829.2_Missense_Mutation_p.D252N	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	252	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.D252N(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AAGCCCTTGTCGGGATATCTG	0.498																																					p.D247N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	7						.						79.0	74.0	76.0					7																	81372780		2203	4300	6503	81210716	SO:0001583	missense	3082	exon7				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.754G>A	7.37:g.81372780C>T	ENSP00000222390:p.Asp252Asn		81210716	NM_001010933	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234665	0.58886	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.75	5.75	0.90469	Kringle (4);Kringle-like fold (1);	0.087572	0.85682	D	0.000000	T	0.47192	0.1432	N	0.25992	0.78	0.80722	D	1	B;B;B;B	0.23058	0.009;0.079;0.029;0.036	B;B;B;B	0.19946	0.01;0.023;0.016;0.027	T	0.38112	-0.9676	10	0.15952	T	0.53	.	13.1841	0.59672	0.0:0.9273:0.0:0.0727	.	247;252;247;252	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	N	252;247;252;247;252	ENSP00000222390:D252N;ENSP00000391238:D247N;ENSP00000389854:D252N;ENSP00000408270:D247N	ENSP00000222390:D252N	D	-	1	0	HGF	81210716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.724000	0.93272	0.655000	0.94253	GAC		0.498	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601	
CACNA2D1	781	broad.mit.edu	37	7	81667423	81667423	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:81667423G>T	ENST00000356253.5	-	11	1263	c.1008C>A	c.(1006-1008)ggC>ggA	p.G336G	CACNA2D1_ENST00000356860.3_Silent_p.G336G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	336	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G336G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAAAACTaaagcccttcttat	0.328																																					p.G336G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008A	7						.						153.0	152.0	152.0					7																	81667423		2203	4300	6503	81505359	SO:0001819	synonymous_variant	781	exon11			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1008C>A	7.37:g.81667423G>T			81505359	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																					0.328	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82389990G>A	ENST00000333891.9	-	24	15590	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R5085*(4)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAATCGAAAAGTTTCA	0.323																																					p.R5085X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C15253T	7						.						134.0	132.0	132.0					7																	82389990		1827	4069	5896	82227926	SO:0001587	stop_gained	27445	exon24			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15253C>T	7.37:g.82389990G>A	ENSP00000334319:p.Arg5085*		82227926	NM_033026		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	56	26.706062	0.99969	.	.	ENSG00000186472	ENST00000333891	.	.	.	5.25	2.84	0.33178	.	0.000000	0.42821	U	0.000656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2602	0.54647	0.0:0.0:0.4373:0.5627	.	.	.	.	X	5085	.	ENSP00000334319:R5085X	R	-	1	2	PCLO	82227926	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.265000	0.43311	0.301000	0.22738	-0.485000	0.04761	CGA		0.323	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82545358	82545358	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82545358G>A	ENST00000333891.9	-	7	12281	c.11944C>T	c.(11944-11946)Cgc>Tgc	p.R3982C	PCLO_ENST00000423517.2_Missense_Mutation_p.R3982C|PCLO_ENST00000437081.1_Missense_Mutation_p.R702C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3982C(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTGGTTGCGAATCACTTCA	0.388																																					p.R3982C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11944T	7						.						389.0	368.0	374.0					7																	82545358		1926	4131	6057	82383294	SO:0001583	missense	27445	exon7			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11944C>T	7.37:g.82545358G>A	ENSP00000334319:p.Arg3982Cys		82383294	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751592	0.49257	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.85	5.85	0.93711	.	.	.	.	.	T	0.39489	0.1080	M	0.61703	1.905	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.925;0.982;0.982	T	0.06588	-1.0818	9	0.87932	D	0	.	14.9344	0.70941	0.0:0.0:0.857:0.143	.	3913;3982;3982	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3982;3982;702	ENSP00000334319:R3982C;ENSP00000388393:R3982C	ENSP00000334319:R3982C	R	-	1	0	PCLO	82383294	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.725000	0.54970	2.767000	0.95098	0.563000	0.77884	CGC		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82580119	82580119	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82580119G>T	ENST00000333891.9	-	6	10122	c.9785C>A	c.(9784-9786)tCt>tAt	p.S3262Y	PCLO_ENST00000423517.2_Missense_Mutation_p.S3262Y|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S3262Y(2)|p.S3193Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTTCATAGACTGCAGCTC	0.478																																					p.S3262Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C9785A	7						.						122.0	115.0	118.0					7																	82580119		1940	4160	6100	82418055	SO:0001583	missense	27445	exon6			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9785C>A	7.37:g.82580119G>T	ENSP00000334319:p.Ser3262Tyr		82418055	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	7.957	0.746186	0.15710	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.13	5.59	5.59	0.84812	.	.	.	.	.	T	0.46541	0.1398	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.73380	0.862;0.98;0.98	T	0.38866	-0.9641	9	0.87932	D	0	.	19.1751	0.93600	0.0:0.0:1.0:0.0	.	3193;3262;3262	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Y	3193;3262;3262	ENSP00000334319:S3262Y;ENSP00000388393:S3262Y	ENSP00000334319:S3262Y	S	-	2	0	PCLO	82418055	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.501000	0.66950	2.634000	0.89283	0.563000	0.77884	TCT		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82580718	82580718	+	Missense_Mutation	SNP	C	C	A	rs560117236		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82580718C>A	ENST00000333891.9	-	6	9523	c.9186G>T	c.(9184-9186)caG>caT	p.Q3062H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3062H|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q3062H(2)|p.Q2993H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTGGAATACTGTGGGGTAC	0.453																																					p.Q3062H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G9186T	7						.						103.0	96.0	98.0					7																	82580718		1910	4130	6040	82418654	SO:0001583	missense	27445	exon6			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9186G>T	7.37:g.82580718C>A	ENSP00000334319:p.Gln3062His		82418654	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.213964	0.09810	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.25	5.37	3.57	0.40892	.	.	.	.	.	T	0.32971	0.0847	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.976;0.998;0.998	P;D;D	0.64595	0.735;0.927;0.927	T	0.02743	-1.1116	9	0.87932	D	0	.	8.6359	0.33948	0.0:0.709:0.0:0.291	.	2993;3062;3062	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	2993;3062;3062	ENSP00000334319:Q3062H;ENSP00000388393:Q3062H	ENSP00000334319:Q3062H	Q	-	3	2	PCLO	82418654	0.146000	0.22672	1.000000	0.80357	0.996000	0.88848	-0.438000	0.06905	0.653000	0.30826	0.563000	0.77884	CAG		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82581542	82581542	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82581542G>A	ENST00000333891.9	-	5	9064	c.8727C>T	c.(8725-8727)gtC>gtT	p.V2909V	PCLO_ENST00000423517.2_Silent_p.V2909V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V2909V(2)|p.V2840V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATTGTTACGACTGTTCTGT	0.448																																					p.V2909V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C8727T	7						.						207.0	196.0	199.0					7																	82581542		1965	4152	6117	82419478	SO:0001819	synonymous_variant	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8727C>T	7.37:g.82581542G>A			82419478	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82582694	82582694	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82582694T>C	ENST00000333891.9	-	5	7912	c.7575A>G	c.(7573-7575)aaA>aaG	p.K2525K	PCLO_ENST00000423517.2_Silent_p.K2525K|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K2525K(2)|p.K2456K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATCTGTTGGTTTTTGTGTAG	0.433																																					p.K2525K												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A7575G	7						.						107.0	104.0	105.0					7																	82582694		1922	4131	6053	82420630	SO:0001819	synonymous_variant	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7575A>G	7.37:g.82582694T>C			82420630	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82583589	82583589	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82583589G>T	ENST00000333891.9	-	5	7017	c.6680C>A	c.(6679-6681)tCt>tAt	p.S2227Y	PCLO_ENST00000423517.2_Missense_Mutation_p.S2227Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2227Y(2)|p.S2158Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTGATGAAGAAATTTCCTC	0.398																																					p.S2227Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C6680A	7						.						54.0	52.0	52.0					7																	82583589		1833	4092	5925	82421525	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6680C>A	7.37:g.82583589G>T	ENSP00000334319:p.Ser2227Tyr		82421525	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	5.990	0.366520	0.11352	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.25	5.5	5.5	0.81552	.	.	.	.	.	T	0.13157	0.0319	L	0.36672	1.1	0.80722	D	1	P;P	0.35328	0.495;0.495	B;B	0.31337	0.128;0.128	T	0.03068	-1.1076	9	0.87932	D	0	.	8.4397	0.32808	0.0825:0.2065:0.711:0.0	.	2227;2227	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	2158;2227;2227	ENSP00000334319:S2227Y;ENSP00000388393:S2227Y	ENSP00000334319:S2227Y	S	-	2	0	PCLO	82421525	0.506000	0.26139	1.000000	0.80357	0.938000	0.57974	3.440000	0.52886	2.575000	0.86900	0.650000	0.86243	TCT		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82584117	82584117	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82584117G>T	ENST00000333891.9	-	5	6489	c.6152C>A	c.(6151-6153)tCt>tAt	p.S2051Y	PCLO_ENST00000423517.2_Missense_Mutation_p.S2051Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2051Y(2)|p.S1982Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTCTGTAGAAGTTACCAT	0.423																																					p.S2051Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C6152A	7						.						80.0	75.0	76.0					7																	82584117		1890	4113	6003	82422053	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6152C>A	7.37:g.82584117G>T	ENSP00000334319:p.Ser2051Tyr		82422053	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.779	-0.253960	0.05829	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19532	2.14;2.15	5.64	5.64	0.86602	.	.	.	.	.	T	0.41834	0.1176	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67548	0.952;0.952	T	0.14896	-1.0456	9	0.87932	D	0	.	17.8784	0.88831	0.0:0.0:1.0:0.0	.	2051;2051	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	1982;2051;2051	ENSP00000334319:S2051Y;ENSP00000388393:S2051Y	ENSP00000334319:S2051Y	S	-	2	0	PCLO	82422053	.	.	0.472000	0.27241	0.331000	0.28603	.	.	2.660000	0.90430	0.561000	0.74099	TCT		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82584797	82584797	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82584797C>A	ENST00000333891.9	-	5	5809	c.5472G>T	c.(5470-5472)aaG>aaT	p.K1824N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1824N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K1824N(2)|p.K1755N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGTGGTGTCTTTGGCCTTT	0.428																																					p.K1824N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5472T	7						.						258.0	238.0	244.0					7																	82584797		1880	4108	5988	82422733	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5472G>T	7.37:g.82584797C>A	ENSP00000334319:p.Lys1824Asn		82422733	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	8.918	0.960266	0.18507	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.37915	1.17;1.19	5.33	3.51	0.40186	.	.	.	.	.	T	0.43545	0.1252	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.39881	-0.9592	9	0.87932	D	0	.	9.4202	0.38546	0.0:0.7754:0.0:0.2246	.	1824;1824	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1755;1824;1824	ENSP00000334319:K1824N;ENSP00000388393:K1824N	ENSP00000334319:K1824N	K	-	3	2	PCLO	82422733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.373000	0.44266	1.247000	0.43917	0.655000	0.94253	AAG		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82585272	82585272	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82585272C>T	ENST00000333891.9	-	5	5334	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R1666Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R1666Q(2)|p.R1597Q(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTTTAAATCGGCGTAGCCC	0.373																																					p.R1666Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G4997A	7						.						110.0	102.0	105.0					7																	82585272		1861	4100	5961	82423208	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4997G>A	7.37:g.82585272C>T	ENSP00000334319:p.Arg1666Gln		82423208	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542433	0.27563	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.24723	1.84;1.85	5.31	5.31	0.75309	.	.	.	.	.	T	0.51736	0.1692	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	T	0.56019	-0.8048	9	0.87932	D	0	.	18.9766	0.92740	0.0:1.0:0.0:0.0	.	1666;1666	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1597;1666;1666	ENSP00000334319:R1666Q;ENSP00000388393:R1666Q	ENSP00000334319:R1666Q	R	-	2	0	PCLO	82423208	0.856000	0.29760	0.643000	0.29450	0.904000	0.53231	3.107000	0.50329	2.478000	0.83669	0.650000	0.86243	CGA		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82585906	82585906	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82585906A>C	ENST00000333891.9	-	5	4700	c.4363T>G	c.(4363-4365)Tta>Gta	p.L1455V	PCLO_ENST00000423517.2_Missense_Mutation_p.L1455V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L1455V(2)|p.L1386V(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTCAGATAAACTCTGAGTT	0.368																																					p.L1455V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T4363G	7						.						107.0	99.0	102.0					7																	82585906		1808	4075	5883	82423842	SO:0001583	missense	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4363T>G	7.37:g.82585906A>C	ENSP00000334319:p.Leu1455Val		82423842	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	1.929	-0.446444	0.04604	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19250	2.16;2.17	5.48	-4.93	0.03066	.	.	.	.	.	T	0.14442	0.0349	L	0.54323	1.7	0.09310	N	1	B;B	0.31548	0.328;0.328	B;B	0.27380	0.079;0.079	T	0.20405	-1.0276	9	0.87932	D	0	.	2.2844	0.04123	0.3562:0.3094:0.2344:0.1	.	1455;1455	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1386;1455;1455	ENSP00000334319:L1455V;ENSP00000388393:L1455V	ENSP00000334319:L1455V	L	-	1	2	PCLO	82423842	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.075000	0.14686	-1.281000	0.02399	-0.309000	0.09137	TTA		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82586071	82586071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82586071C>A	ENST00000333891.9	-	5	4535	c.4198G>T	c.(4198-4200)Gaa>Taa	p.E1400*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E1400*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1400*(2)|p.E1331*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCTGCTTTCTTGTGAAAAA	0.403																																					p.E1400X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G4198T	7						.						91.0	85.0	86.0					7																	82586071		1837	4088	5925	82424007	SO:0001587	stop_gained	27445	exon5			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4198G>T	7.37:g.82586071C>A	ENSP00000334319:p.Glu1400*		82424007	NM_033026		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	46	12.717255	0.99690	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	1331;1400;1400	.	ENSP00000334319:E1400X	E	-	1	0	PCLO	82424007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.715000	0.92844	0.655000	0.94253	GAA		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82785548	82785548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82785548C>A	ENST00000333891.9	-	2	746	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E137*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E137*(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTTTGATTCTTTCAAGCTA	0.448																																					p.E137X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G409T	7						.						107.0	108.0	107.0					7																	82785548		1850	4106	5956	82623484	SO:0001587	stop_gained	27445	exon2			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.409G>T	7.37:g.82785548C>A	ENSP00000334319:p.Glu137*		82623484	NM_033026		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	41	8.657743	0.98903	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.992	0.80214	0.0:0.8655:0.1345:0.0	.	.	.	.	X	137	.	ENSP00000334319:E137X	E	-	1	0	PCLO	82623484	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.008000	0.63991	2.665000	0.90641	0.655000	0.94253	GAA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3E	9723	broad.mit.edu	37	7	82997280	82997280	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:82997280C>T	ENST00000307792.3	-	17	2417	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	SEMA3E_ENST00000427262.1_Silent_p.G590G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	650	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G650G(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAAAATAGGTCCCAGCATCTG	0.418																																					p.G650G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1950A	7						.						126.0	118.0	120.0					7																	82997280		2203	4300	6503	82835216	SO:0001819	synonymous_variant	9723	exon17			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1950G>A	7.37:g.82997280C>T			82835216	NM_012431	B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	CCDS34674.1																																																																																				0.418	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3E	9723	broad.mit.edu	37	7	83016343	83016343	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83016343C>T	ENST00000307792.3	-	15	2158	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R504Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	564					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R564Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATTTCCATGTCGAACATCTTG	0.363																																					p.R564Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1691A	7						.						89.0	76.0	80.0					7																	83016343		2203	4300	6503	82854279	SO:0001583	missense	9723	exon15			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1691G>A	7.37:g.83016343C>T	ENSP00000303212:p.Arg564Gln		82854279	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446225	0.96187	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22134	1.97;1.97	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.36286	-0.9754	10	0.51188	T	0.08	.	19.6817	0.95967	0.0:1.0:0.0:0.0	.	564	O15041	SEM3E_HUMAN	Q	564;504;564	ENSP00000303212:R564Q;ENSP00000405052:R504Q	ENSP00000303212:R564Q	R	-	2	0	SEMA3E	82854279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.319000	0.65835	2.653000	0.90120	0.650000	0.86243	CGA		0.363	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3E	9723	broad.mit.edu	37	7	83035288	83035288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83035288C>A	ENST00000307792.3	-	8	1368	c.901G>T	c.(901-903)Gga>Tga	p.G301*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.G241*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	301	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.G301*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTGTCAATTCCATTCATTCCT	0.353																																					p.G301X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G901T	7						.						155.0	142.0	146.0					7																	83035288		2203	4300	6503	82873224	SO:0001587	stop_gained	9723	exon8			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.901G>T	7.37:g.83035288C>A	ENSP00000303212:p.Gly301*		82873224	NM_012431	B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	36	5.923584	0.97110	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.73	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.9684	0.71213	0.0:0.9314:0.0:0.0685	.	.	.	.	X	301;241;301	.	ENSP00000303212:G301X	G	-	1	0	SEMA3E	82873224	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	6.059000	0.71133	1.426000	0.47256	-0.143000	0.13931	GGA		0.353	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3E	9723	broad.mit.edu	37	7	83095896	83095896	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83095896G>A	ENST00000307792.3	-	4	825	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R60W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	120	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R120W(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAAACCCGAACATAATTT	0.388																																					p.R120W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C358T	7						.						130.0	111.0	117.0					7																	83095896		2203	4300	6503	82933832	SO:0001583	missense	9723	exon4			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.358C>T	7.37:g.83095896G>A	ENSP00000303212:p.Arg120Trp		82933832	NM_012431	B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022523	0.75275	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.31510	1.49;1.49;1.49	5.48	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.139535	0.47852	D	0.000217	T	0.66247	0.2770	H	0.94183	3.505	0.42590	D	0.993243	D	0.89917	1.0	D	0.91635	0.999	T	0.77632	-0.2515	10	0.87932	D	0	.	14.4761	0.67546	0.0:0.0:0.8517:0.1483	.	120	O15041	SEM3E_HUMAN	W	120;60;120;60	ENSP00000303212:R120W;ENSP00000405052:R60W;ENSP00000412867:R60W	ENSP00000303212:R120W	R	-	1	2	SEMA3E	82933832	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	4.003000	0.57061	1.290000	0.44636	0.650000	0.86243	CGG		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3A	10371	broad.mit.edu	37	7	83592543	83592543	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83592543C>T	ENST00000265362.4	-	16	2152	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R613Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	613	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.R613Q(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCTTCATTTCGCCTCTGGAA	0.403																																					p.R613Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1838A	7						.						187.0	187.0	187.0					7																	83592543		2203	4300	6503	83430479	SO:0001583	missense	10371	exon16			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1838G>A	7.37:g.83592543C>T	ENSP00000265362:p.Arg613Gln		83430479	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740001	0.30865	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01527	4.8;4.8	5.9	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.355176	0.32624	N	0.005858	T	0.00724	0.0024	N	0.01705	-0.755	0.31357	N	0.681812	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	10	0.14252	T	0.57	.	3.4603	0.07531	0.0:0.5419:0.2844:0.1737	.	613	Q14563	SEM3A_HUMAN	Q	613	ENSP00000265362:R613Q;ENSP00000415260:R613Q	ENSP00000265362:R613Q	R	-	2	0	SEMA3A	83430479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.802000	0.96397	0.650000	0.86243	CGA		0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3A	10371	broad.mit.edu	37	7	83739791	83739791	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83739791G>T	ENST00000265362.4	-	4	762	c.448C>A	c.(448-450)Cct>Act	p.P150T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P150T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	150	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.P150T(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GTTACCTCAGGATGATGTCCA	0.368																																					p.P150T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448A	7						.						94.0	90.0	91.0					7																	83739791		2203	4300	6503	83577727	SO:0001583	missense	10371	exon4			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.448C>A	7.37:g.83739791G>T	ENSP00000265362:p.Pro150Thr		83577727	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919097	0.33908	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.20738	2.05;2.05	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.516702	0.23107	N	0.051843	T	0.14227	0.0344	N	0.12887	0.27	0.46849	D	0.999221	B	0.09022	0.002	B	0.11329	0.006	T	0.16012	-1.0417	10	0.10902	T	0.67	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	150	Q14563	SEM3A_HUMAN	T	150	ENSP00000265362:P150T;ENSP00000415260:P150T	ENSP00000265362:P150T	P	-	1	0	SEMA3A	83577727	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.728000	0.62000	2.878000	0.98634	0.650000	0.86243	CCT		0.368	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3A	10371	broad.mit.edu	37	7	83764139	83764139	+	Missense_Mutation	SNP	C	C	T	rs376684446		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:83764139C>T	ENST00000265362.4	-	2	555	c.241G>A	c.(241-243)Gac>Aac	p.D81N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.D81N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	81	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.D81N(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTAACCAGGTCGAATGAAAAT	0.358																																					p.D81N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G241A	7						.						99.0	96.0	97.0					7																	83764139		2203	4300	6503	83602075	SO:0001583	missense	10371	exon2			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.241G>A	7.37:g.83764139C>T	ENSP00000265362:p.Asp81Asn		83602075	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	c	4.150	0.026195	0.08054	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.22134	1.97;1.97;1.97	4.79	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.213570	0.56097	N	0.000034	T	0.07234	0.0183	N	0.02916	-0.46	0.26223	N	0.979132	B	0.02656	0.0	B	0.04013	0.001	T	0.37502	-0.9703	10	0.02654	T	1	.	10.7511	0.46209	0.0:0.0765:0.0:0.9235	.	81	Q14563	SEM3A_HUMAN	N	81	ENSP00000265362:D81N;ENSP00000415260:D81N;ENSP00000391900:D81N	ENSP00000265362:D81N	D	-	1	0	SEMA3A	83602075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.414000	0.44627	0.757000	0.33036	-0.600000	0.04104	GAC		0.358	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453																																					p.R760Q	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2279A	7						.						180.0	146.0	158.0					7																	84628811		2203	4300	6503	84466747	SO:0001583	missense	223117	exon17			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2279G>A	7.37:g.84628811C>T	ENSP00000284136:p.Arg760Gln		84466747	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155987	0.78114	.	.	ENSG00000153993	ENST00000284136	T	0.36699	1.24	5.93	5.93	0.95920	.	0.114181	0.56097	D	0.000021	T	0.63070	0.2480	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62581	-0.6824	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	760	O95025	SEM3D_HUMAN	Q	760	ENSP00000284136:R760Q	ENSP00000284136:R760Q	R	-	2	0	SEMA3D	84466747	1.000000	0.71417	0.980000	0.43619	0.271000	0.26615	7.224000	0.78042	2.814000	0.96858	0.655000	0.94253	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	broad.mit.edu	37	7	84727225	84727225	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:84727225A>C	ENST00000284136.6	-	2	251	c.208T>G	c.(208-210)Ttt>Gtt	p.F70V	SEMA3D_ENST00000444867.1_Missense_Mutation_p.F70V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	70	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.F70V(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGAGTTTGAAAATCCAGTCCT	0.373																																					p.F70V	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T208G	7						.						103.0	107.0	106.0					7																	84727225		2203	4300	6503	84565161	SO:0001583	missense	223117	exon2			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.208T>G	7.37:g.84727225A>C	ENSP00000284136:p.Phe70Val		84565161	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502033	0.85176	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.11277	2.79;2.79	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.046039	0.85682	D	0.000000	T	0.27731	0.0682	L	0.60845	1.875	0.58432	D	0.999999	D;D	0.63880	0.993;0.98	P;P	0.61275	0.886;0.783	T	0.00609	-1.1646	10	0.72032	D	0.01	.	16.0068	0.80367	1.0:0.0:0.0:0.0	.	70;70	C9JYT6;O95025	.;SEM3D_HUMAN	V	70	ENSP00000284136:F70V;ENSP00000401366:F70V	ENSP00000284136:F70V	F	-	1	0	SEMA3D	84565161	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.232000	0.89796	2.241000	0.73720	0.482000	0.46254	TTT		0.373	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
KIAA1324L	222223	broad.mit.edu	37	7	86541520	86541520	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:86541520T>C	ENST00000450689.2	-	15	2222	c.2037A>G	c.(2035-2037)gaA>gaG	p.E679E	KIAA1324L_ENST00000490995.1_5'Flank|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Silent_p.E512E|KIAA1324L_ENST00000297222.6_Silent_p.E439E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	679						integral component of membrane (GO:0016021)		p.E439E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATTTTCTTTTTCATGGTAGA	0.373																																					p.E512E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1536G	7						.						117.0	119.0	119.0					7																	86541520		2203	4300	6503	86379456	SO:0001819	synonymous_variant	222223	exon14			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2037A>G	7.37:g.86541520T>C			86379456	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	T	8.960	0.970244	0.18659	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.76	-8.13	0.01073	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	T	0.59679	-0.7409	4	.	.	.	.	11.1891	0.48675	0.0865:0.6616:0.1275:0.1244	.	.	.	.	E	640	.	.	K	-	1	0	KIAA1324L	86379456	0.076000	0.21285	0.911000	0.35937	0.984000	0.73092	-0.651000	0.05372	-1.120000	0.02953	-0.467000	0.05162	AAA		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
KIAA1324L	222223	broad.mit.edu	37	7	86544125	86544125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:86544125C>A	ENST00000450689.2	-	13	1830	c.1645G>T	c.(1645-1647)Gaa>Taa	p.E549*	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Nonsense_Mutation_p.E549*|KIAA1324L_ENST00000416314.1_Nonsense_Mutation_p.E382*|KIAA1324L_ENST00000297222.6_Nonsense_Mutation_p.E309*	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	549						integral component of membrane (GO:0016021)		p.E309*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCTTGTTTTTCTTTGGTTCCA	0.343																																					p.E382X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1144T	7						.						196.0	167.0	177.0					7																	86544125		2203	4300	6503	86382061	SO:0001587	stop_gained	222223	exon12			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1645G>T	7.37:g.86544125C>A	ENSP00000413445:p.Glu549*		86382061	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Nonsense_Mutation	SNP	ENST00000450689.2	37	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.484358|7.484358	0.98312|0.98312	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.096355|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76622	.|0.4013	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73911	.|-0.3833	.|3	0.07482|.	T|.	0.82|.	.|.	19.3629|19.3629	0.94448|0.94448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	549;309;549;382|509	.|.	ENSP00000297222:E309X|.	E|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86382061|86382061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.168000|4.168000	0.58216|0.58216	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.343	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
KIAA1324L	222223	broad.mit.edu	37	7	86554959	86554959	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:86554959A>G	ENST00000450689.2	-	10	1469	c.1284T>C	c.(1282-1284)tgT>tgC	p.C428C	KIAA1324L_ENST00000444627.1_Silent_p.C428C|KIAA1324L_ENST00000416314.1_Silent_p.C261C|KIAA1324L_ENST00000297222.6_Silent_p.C188C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	428						integral component of membrane (GO:0016021)		p.C188C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TTCCTGCTGGACATGGTCTAC	0.403																																					p.C261C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T783C	7						.						108.0	99.0	102.0					7																	86554959		2203	4300	6503	86392895	SO:0001819	synonymous_variant	222223	exon9			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1284T>C	7.37:g.86554959A>G			86392895	NM_152748	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	A	1.407	-0.576581	0.03854	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.7	0.204	0.15199	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49818	-0.8899	4	.	.	.	.	9.594	0.39563	0.6092:0.0:0.3908:0.0	.	.	.	.	P	389	.	.	S	-	1	0	KIAA1324L	86392895	0.989000	0.36119	0.975000	0.42487	0.125000	0.20455	0.417000	0.21214	0.114000	0.18032	0.459000	0.35465	TCC		0.403	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	
DMTF1	9988	broad.mit.edu	37	7	86811606	86811606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:86811606C>A	ENST00000394703.5	+	12	1336	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	DMTF1_ENST00000331242.7_Missense_Mutation_p.S258Y|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000432937.2_Missense_Mutation_p.S170Y|DMTF1_ENST00000413276.2_Missense_Mutation_p.S258Y	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	258	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 1. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S258Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAAGTGCATCTTCTGTCAAA	0.483																																					p.S258Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C773A	7						.						156.0	141.0	146.0					7																	86811606		2203	4300	6503	86649542	SO:0001583	missense	9988	exon10			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.773C>A	7.37:g.86811606C>A	ENSP00000378193:p.Ser258Tyr		86649542	NM_001142327	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232419	0.79688	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.76	4.89	0.63831	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.047647	0.85682	D	0.000000	T	0.47340	0.1440	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.45644	-0.9247	10	0.02654	T	1	-12.1014	14.1857	0.65605	0.0:0.9284:0.0:0.0716	.	258	Q9Y222	DMTF1_HUMAN	Y	258;258;170;258	ENSP00000332171:S258Y;ENSP00000402627:S258Y;ENSP00000412532:S170Y;ENSP00000378193:S258Y	ENSP00000332171:S258Y	S	+	2	0	DMTF1	86649542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.582000	0.49881	0.650000	0.86243	TCT		0.483	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145	
CROT	54677	broad.mit.edu	37	7	87021885	87021885	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87021885C>T	ENST00000331536.3	+	15	1614	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	CROT_ENST00000442291.1_Missense_Mutation_p.R477C|CROT_ENST00000419147.2_Missense_Mutation_p.R505C	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	477					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.R477C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AATACAGCTTCGTGAGCGGCA	0.343																																					p.R477C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429T	7						.						107.0	115.0	112.0					7																	87021885		2201	4299	6500	86859821	SO:0001583	missense	54677	exon15				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1429C>T	7.37:g.87021885C>T	ENSP00000331981:p.Arg477Cys		86859821	NM_021151	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550215	0.27652	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89343	-2.5;-2.5;-2.5	5.93	-0.0817	0.13701	.	0.920708	0.09500	N	0.793789	T	0.77922	0.4203	N	0.19112	0.55	0.09310	N	1	B;B	0.30021	0.265;0.265	B;B	0.21360	0.034;0.023	T	0.63659	-0.6587	10	0.54805	T	0.06	0.242	7.2846	0.26330	0.0:0.3357:0.3099:0.3544	.	505;477	E7EQF2;Q9UKG9	.;OCTC_HUMAN	C	505;477;477	ENSP00000413575:R505C;ENSP00000331981:R477C;ENSP00000411983:R477C	ENSP00000331981:R477C	R	+	1	0	CROT	86859821	0.000000	0.05858	0.001000	0.08648	0.816000	0.46133	0.052000	0.14163	-0.309000	0.08779	0.655000	0.94253	CGT		0.343	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
CROT	54677	broad.mit.edu	37	7	87022054	87022054	+	Missense_Mutation	SNP	C	C	T	rs374151013		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87022054C>T	ENST00000331536.3	+	16	1698	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	CROT_ENST00000442291.1_Missense_Mutation_p.R505C|CROT_ENST00000419147.2_Missense_Mutation_p.R533C	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	505					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.R505C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGGATTTGATCGTCACCTTTT	0.353																																					p.R505C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1513T	7						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	99.0	101.0	100.0		1597,1513	5.9	1.0	7		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CROT	NM_001143935.1,NM_021151.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	533/641,505/613	87022054	1,13005	2203	4300	6503	86859990	SO:0001583	missense	54677	exon16				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1513C>T	7.37:g.87022054C>T	ENSP00000331981:p.Arg505Cys		86859990	NM_021151	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422409	0.83559	0.0	1.16E-4	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.92545	-3.06;-3.06;-3.06	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.97377	0.9142	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97485	1.0050	10	0.66056	D	0.02	-22.1656	20.3465	0.98790	0.0:1.0:0.0:0.0	.	533;505	E7EQF2;Q9UKG9	.;OCTC_HUMAN	C	533;505;505	ENSP00000413575:R533C;ENSP00000331981:R505C;ENSP00000411983:R505C	ENSP00000331981:R505C	R	+	1	0	CROT	86859990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.072000	0.71238	2.798000	0.96311	0.655000	0.94253	CGT		0.353	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
ABCB4	5244	broad.mit.edu	37	7	87035805	87035805	+	Silent	SNP	G	G	A	rs561612231		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87035805G>A	ENST00000265723.4	-	26	3417	c.3306C>T	c.(3304-3306)ctC>ctT	p.L1102L	ABCB4_ENST00000545634.1_Silent_p.L1095L|ABCB4_ENST00000358400.3_Silent_p.L1048L|ABCB4_ENST00000359206.3_Silent_p.L1095L|ABCB4_ENST00000453593.1_Silent_p.L1048L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1102	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L1095L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTGACCATCGAGAAGCTGAA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20158	0.0		0.001	False		,,,				2504	0.0				p.L1102L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3306T	7						.						63.0	62.0	62.0					7																	87035805		2203	4300	6503	86873741	SO:0001819	synonymous_variant	5244	exon26			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3306C>T	7.37:g.87035805G>A			86873741	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.408	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB4	5244	broad.mit.edu	37	7	87060767	87060767	+	Missense_Mutation	SNP	C	C	T	rs370195624		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87060767C>T	ENST00000265723.4	-	15	1957	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E616K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E616K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E616K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E616K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	616	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E616K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTCATCAGTTCGCTGTGGCTT	0.453																																					p.E616K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1846A	7						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	214.0	182.0	193.0		1846,1846,1846	5.5	0.7	7		193	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	616/1280,616/1287,616/1233	87060767	1,13005	2203	4300	6503	86898703	SO:0001583	missense	5244	exon15			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1846G>A	7.37:g.87060767C>T	ENSP00000265723:p.Glu616Lys		86898703	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031373	0.54790	0.0	1.16E-4	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.49	5.49	0.81192	ABC transporter-like (1);	0.152222	0.56097	D	0.000021	T	0.66499	0.2795	L	0.43598	1.365	0.58432	D	0.999999	P;B;B	0.41232	0.743;0.277;0.181	B;B;B	0.35727	0.209;0.111;0.052	T	0.71543	-0.4561	10	0.62326	D	0.03	-15.5791	14.57	0.68205	0.0:0.9278:0.0:0.0722	.	616;616;616	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	616	ENSP00000352135:E616K;ENSP00000351172:E616K;ENSP00000265723:E616K;ENSP00000392983:E616K;ENSP00000437465:E616K	ENSP00000265723:E616K	E	-	1	0	ABCB4	86898703	0.927000	0.31430	0.711000	0.30485	0.727000	0.41649	1.982000	0.40638	2.580000	0.87095	0.591000	0.81541	GAA		0.453	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB4	5244	broad.mit.edu	37	7	87082277	87082277	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87082277G>T	ENST00000265723.4	-	6	630	c.519C>A	c.(517-519)ctC>ctA	p.L173L	ABCB4_ENST00000545634.1_Silent_p.L173L|ABCB4_ENST00000358400.3_Silent_p.L173L|ABCB4_ENST00000359206.3_Silent_p.L173L|ABCB4_ENST00000453593.1_Silent_p.L173L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	173	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L173L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCCGCGTATTGAGTTCAGTGG	0.363																																					p.L173L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519A	7						.						115.0	105.0	108.0					7																	87082277		2203	4300	6503	86920213	SO:0001819	synonymous_variant	5244	exon6			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.519C>A	7.37:g.87082277G>T			86920213	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.363	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB1	5243	broad.mit.edu	37	7	87133758	87133758	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87133758T>C	ENST00000265724.3	-	29	4061	c.3644A>G	c.(3643-3645)cAa>cGa	p.Q1215R	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q1151R|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.Q1215R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAGGGCTTCTTGGACAACCTA	0.453																																					p.Q1215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3644G	7						.						80.0	77.0	78.0					7																	87133758		2203	4300	6503	86971694	SO:0001583	missense	5243	exon29			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3644A>G	7.37:g.87133758T>C	ENSP00000265724:p.Gln1215Arg		86971694	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785386	0.90282	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.83163	-1.69;-1.69	5.8	5.8	0.92144	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	L	0.41824	1.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	D	0.88881	0.3339	10	0.87932	D	0	-15.6491	15.3408	0.74296	0.0:0.0:0.0:1.0	.	1151;1215	B5AK60;P08183	.;MDR1_HUMAN	R	996;1215;1151	ENSP00000265724:Q1215R;ENSP00000444095:Q1151R	ENSP00000265724:Q1215R	Q	-	2	0	ABCB1	86971694	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.001000	0.88508	2.216000	0.71823	0.533000	0.62120	CAA		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
ABCB1	5243	broad.mit.edu	37	7	87150174	87150174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87150174C>A	ENST00000265724.3	-	23	3121	c.2704G>T	c.(2704-2706)Gaa>Taa	p.E902*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.E838*|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	902	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E902*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGGAAGTTTTCTATTGCTTCA	0.398																																					p.E902X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2704T	7						.						105.0	95.0	99.0					7																	87150174		2203	4300	6503	86988110	SO:0001587	stop_gained	5243	exon23			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2704G>T	7.37:g.87150174C>A	ENSP00000265724:p.Glu902*		86988110	NM_000927	A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	45	11.829727	0.99607	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.28	5.28	0.74379	.	0.157536	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-28.0919	18.9356	0.92584	0.0:1.0:0.0:0.0	.	.	.	.	X	683;902;838	.	ENSP00000265724:E902X	E	-	1	0	ABCB1	86988110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.153000	0.58118	2.467000	0.83353	0.655000	0.94253	GAA		0.398	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
ABCB1	5243	broad.mit.edu	37	7	87165857	87165857	+	Splice_Site	SNP	C	C	A	rs41305517		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87165857C>A	ENST00000265724.3	-	21	2815	c.2398G>T	c.(2398-2400)Gat>Tat	p.D800Y	ABCB1_ENST00000543898.1_Splice_Site_p.D736Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	800	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.D800Y(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAACTCACATCCTGTGGCACA	0.453																																					p.D800Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2398T	7						.						130.0	119.0	122.0					7																	87165857		2203	4300	6503	87003793	SO:0001630	splice_region_variant	5243	exon21			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2398-1G>T	7.37:g.87165857C>A			87003793	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935785	0.92458	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92545	-3.06;-3.06	5.64	5.64	0.86602	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.101468	0.64402	D	0.000003	D	0.97448	0.9165	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97912	1.0309	10	0.87932	D	0	-28.9982	20.0627	0.97684	0.0:1.0:0.0:0.0	.	736;800	B5AK60;P08183	.;MDR1_HUMAN	Y	581;800;736	ENSP00000265724:D800Y;ENSP00000444095:D736Y	ENSP00000265724:D800Y	D	-	1	0	ABCB1	87003793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.319000	0.79040	2.807000	0.96579	0.591000	0.81541	GAT		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	Missense_Mutation
ABCB1	5243	broad.mit.edu	37	7	87183219	87183219	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87183219C>A	ENST00000265724.3	-	10	1274	c.857G>T	c.(856-858)aGa>aTa	p.R286I	ABCB1_ENST00000543898.1_Missense_Mutation_p.R222I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	286	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R286I(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATCCCAATTCTTTTAGCTTC	0.353																																					p.R286I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857T	7						.						168.0	160.0	163.0					7																	87183219		2203	4300	6503	87021155	SO:0001583	missense	5243	exon10			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.857G>T	7.37:g.87183219C>A	ENSP00000265724:p.Arg286Ile		87021155	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200353	0.38905	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.82984	-1.67;-1.67	5.55	3.37	0.38596	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.390808	0.30830	N	0.008792	T	0.80497	0.4634	L	0.41079	1.255	0.53005	D	0.999969	B;P	0.40875	0.032;0.731	B;P	0.51453	0.003;0.67	T	0.77859	-0.2431	10	0.44086	T	0.13	-10.6552	5.4902	0.16771	0.0:0.5921:0.157:0.2509	.	222;286	B5AK60;P08183	.;MDR1_HUMAN	I	67;286;222	ENSP00000265724:R286I;ENSP00000444095:R222I	ENSP00000265724:R286I	R	-	2	0	ABCB1	87021155	0.241000	0.23857	1.000000	0.80357	0.998000	0.95712	0.716000	0.25836	1.478000	0.48253	0.655000	0.94253	AGA		0.353	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
SLC25A40	55972	broad.mit.edu	37	7	87476354	87476354	+	Nonsense_Mutation	SNP	G	G	A	rs201629378		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87476354G>A	ENST00000341119.5	-	8	887	c.541C>T	c.(541-543)Cga>Tga	p.R181*		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	181					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R181*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CTGACAAATCGATGCAGTTCC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		16040	0.0		0.001	False		,,,				2504	0.0				p.R181X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C541T	7						.	G	stop/ARG	0,4406		0,0,2203	152.0	156.0	155.0		541	4.6	0.0	7		155	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLC25A40	NM_018843.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		181/339	87476354	1,13005	2203	4300	6503	87314290	SO:0001587	stop_gained	55972	exon8			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.541C>T	7.37:g.87476354G>A	ENSP00000344831:p.Arg181*		87314290	NM_018843	A8K483|D6W5P6|Q53GB1|Q9UHR1	Nonsense_Mutation	SNP	ENST00000341119.5	37	CCDS5610.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	38	6.744380	0.97805	0.0	1.16E-4	ENSG00000075303	ENST00000341119	.	.	.	5.54	4.64	0.57946	.	1.312210	0.04912	N	0.453353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	7.1554	0.25635	0.0697:0.1251:0.6759:0.1294	.	.	.	.	X	181	.	ENSP00000344831:R181X	R	-	1	2	SLC25A40	87314290	0.000000	0.05858	0.030000	0.17652	0.901000	0.52897	-0.018000	0.12568	1.298000	0.44778	0.650000	0.86243	CGA		0.408	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	
DBF4	10926	broad.mit.edu	37	7	87525823	87525823	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87525823G>T	ENST00000265728.1	+	7	1136	c.632G>T	c.(631-633)aGa>aTa	p.R211I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	211					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R211I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAAAAAACAAGAAGTAAGTAT	0.294																																					p.R211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632T	7						.						89.0	90.0	90.0					7																	87525823		2203	4300	6503	87363759	SO:0001583	missense	10926	exon7			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.632G>T	7.37:g.87525823G>T	ENSP00000265728:p.Arg211Ile		87363759	NM_006716	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684860	0.47991	.	.	ENSG00000006634	ENST00000265728	T	0.12361	2.69	5.02	-0.386	0.12466	.	0.482690	0.22565	N	0.058411	T	0.16938	0.0407	L	0.50333	1.59	0.45261	D	0.998262	D	0.56035	0.974	P	0.50896	0.653	T	0.02691	-1.1123	10	0.66056	D	0.02	-9.7966	8.3541	0.32321	0.6722:0.0:0.3278:0.0	.	211	Q9UBU7	DBF4A_HUMAN	I	211	ENSP00000265728:R211I	ENSP00000265728:R211I	R	+	2	0	DBF4	87363759	0.998000	0.40836	0.998000	0.56505	0.941000	0.58515	0.195000	0.17155	0.022000	0.15160	0.591000	0.81541	AGA		0.294	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	
DBF4	10926	broad.mit.edu	37	7	87536595	87536595	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87536595C>A	ENST00000265728.1	+	12	1646	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	381					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S381Y(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAACATATTTCTCAGAAAGAT	0.373																																					p.S381Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1142A	7						.						91.0	101.0	97.0					7																	87536595		2203	4299	6502	87374531	SO:0001583	missense	10926	exon12			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1142C>A	7.37:g.87536595C>A	ENSP00000265728:p.Ser381Tyr		87374531	NM_006716	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975155	0.18736	.	.	ENSG00000006634	ENST00000265728	T	0.36878	1.23	5.66	2.73	0.32206	.	0.400881	0.24258	N	0.040104	T	0.26340	0.0643	L	0.29908	0.895	0.24347	N	0.994932	P;P	0.46277	0.875;0.766	B;B	0.42882	0.401;0.246	T	0.06734	-1.0810	10	0.41790	T	0.15	-1.493	8.8184	0.35009	0.0:0.6371:0.2859:0.077	.	157;381	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Y	381	ENSP00000265728:S381Y	ENSP00000265728:S381Y	S	+	2	0	DBF4	87374531	0.985000	0.35326	0.779000	0.31741	0.182000	0.23217	1.196000	0.32198	0.274000	0.22072	0.655000	0.94253	TCT		0.373	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	
DBF4	10926	broad.mit.edu	37	7	87537311	87537311	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87537311G>T	ENST00000265728.1	+	12	2362	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	620					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D620Y(1)|p.D620N(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTCTTTACTAGACTTGTTTCA	0.328																																					p.D620Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1858T	7						.						53.0	58.0	57.0					7																	87537311		2203	4298	6501	87375247	SO:0001583	missense	10926	exon12			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1858G>T	7.37:g.87537311G>T	ENSP00000265728:p.Asp620Tyr		87375247	NM_006716	A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502003	0.64298	.	.	ENSG00000006634	ENST00000265728	T	0.34275	1.37	5.13	5.13	0.70059	.	0.273852	0.30556	N	0.009372	T	0.44808	0.1311	L	0.27053	0.805	0.36640	D	0.876785	D;D	0.71674	0.998;0.996	D;P	0.65573	0.936;0.862	T	0.54569	-0.8274	10	0.72032	D	0.01	-5.5978	13.3965	0.60856	0.0:0.1572:0.8428:0.0	.	396;620	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Y	620	ENSP00000265728:D620Y	ENSP00000265728:D620Y	D	+	1	0	DBF4	87375247	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.654000	0.61469	2.386000	0.81285	0.650000	0.86243	GAC		0.328	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716	
ADAM22	53616	broad.mit.edu	37	7	87763720	87763720	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87763720G>T	ENST00000265727.7	+	13	1233	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	ADAM22_ENST00000398201.4_Missense_Mutation_p.R385I|ADAM22_ENST00000315984.7_Missense_Mutation_p.R385I|ADAM22_ENST00000398204.4_Missense_Mutation_p.R385I|ADAM22_ENST00000398209.3_Missense_Mutation_p.R385I			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R385I(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGACAAAAGAAAGTTAGCA	0.284																																					p.R385I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1154T	7						.						84.0	83.0	84.0					7																	87763720		1802	4065	5867	87601656	SO:0001583	missense	53616	exon13			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1154G>T	7.37:g.87763720G>T	ENSP00000265727:p.Arg385Ile		87601656	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225094	0.39300	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.56	3.7	0.42460	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.152198	0.64402	D	0.000013	T	0.41096	0.1144	N	0.12746	0.255	0.58432	D	0.999995	B;B;B;B	0.28055	0.199;0.166;0.199;0.043	B;B;B;B	0.26094	0.066;0.039;0.066;0.033	T	0.20140	-1.0284	10	0.38643	T	0.18	.	9.5513	0.39313	0.0707:0.2729:0.6564:0.0	.	437;385;385;385	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	I	385;385;385;385;385;352	ENSP00000381262:R385I;ENSP00000381260:R385I;ENSP00000265727:R385I;ENSP00000315900:R385I;ENSP00000381267:R385I;ENSP00000381261:R352I	ENSP00000265727:R385I	R	+	2	0	ADAM22	87601656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.509000	0.60448	0.670000	0.31165	0.650000	0.86243	AGA		0.284	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ADAM22	53616	broad.mit.edu	37	7	87782624	87782624	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87782624G>T	ENST00000265727.7	+	21	1849	c.1770G>T	c.(1768-1770)tgG>tgT	p.W590C	ADAM22_ENST00000398201.4_Missense_Mutation_p.W590C|ADAM22_ENST00000315984.7_Missense_Mutation_p.W590C|ADAM22_ENST00000398204.4_Missense_Mutation_p.W590C|ADAM22_ENST00000398209.3_Missense_Mutation_p.W590C			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	590	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W590C(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGACACATGGATACAGTGCA	0.428																																					p.W590C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1770T	7						.						116.0	118.0	117.0					7																	87782624		2003	4168	6171	87620560	SO:0001583	missense	53616	exon21			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1770G>T	7.37:g.87782624G>T	ENSP00000265727:p.Trp590Cys		87620560	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325140	0.81580	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.7	5.7	0.88788	ADAM, cysteine-rich (2);	0.057724	0.85682	D	0.000000	T	0.51686	0.1689	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.54410	-0.8298	10	0.87932	D	0	.	18.5979	0.91235	0.0:0.0:1.0:0.0	.	642;590;590;590	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	C	590;590;590;590;590;557	ENSP00000381262:W590C;ENSP00000381260:W590C;ENSP00000265727:W590C;ENSP00000315900:W590C;ENSP00000381267:W590C;ENSP00000381261:W557C	ENSP00000265727:W590C	W	+	3	0	ADAM22	87620560	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.286000	0.95898	2.688000	0.91661	0.655000	0.94253	TGG		0.428	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ADAM22	53616	broad.mit.edu	37	7	87785260	87785260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87785260G>A	ENST00000265727.7	+	22	1925	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ADAM22_ENST00000398201.4_Missense_Mutation_p.E616K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E616K|ADAM22_ENST00000398204.4_Missense_Mutation_p.E616K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E616K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	616	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E616K(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGCTTGGAGAACTCGATGG	0.363																																					p.E616K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1846A	7						.						210.0	198.0	202.0					7																	87785260		1862	4108	5970	87623196	SO:0001583	missense	53616	exon22			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1846G>A	7.37:g.87785260G>A	ENSP00000265727:p.Glu616Lys		87623196	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800686	0.90538	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.35	5.35	0.76521	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.43701	1.375	0.80722	D	1	B;B;B;D	0.64830	0.312;0.266;0.312;0.994	B;B;B;D	0.77557	0.15;0.093;0.15;0.99	T	0.01819	-1.1267	10	0.27082	T	0.32	.	18.169	0.89739	0.0:0.0:1.0:0.0	.	668;616;616;616	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	K	616;616;616;616;616;583	ENSP00000381262:E616K;ENSP00000381260:E616K;ENSP00000265727:E616K;ENSP00000315900:E616K;ENSP00000381267:E616K;ENSP00000381261:E583K	ENSP00000265727:E616K	E	+	1	0	ADAM22	87623196	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.700000	0.91322	2.650000	0.89964	0.655000	0.94253	GAA		0.363	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
SRI	6717	broad.mit.edu	37	7	87838696	87838696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87838696C>T	ENST00000265729.2	-	6	521	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SRI_ENST00000490437.1_Missense_Mutation_p.D114N|SRI_ENST00000419179.1_Missense_Mutation_p.D117N|SRI_ENST00000394641.3_Missense_Mutation_p.D142N|SRI_ENST00000431660.1_Missense_Mutation_p.D142N	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	157	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.D157N(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ATGTAGTCGTCGAAGGTGATC	0.433																																					p.D157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	7						.						185.0	153.0	164.0					7																	87838696		2203	4300	6503	87676632	SO:0001583	missense	6717	exon6			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.469G>A	7.37:g.87838696C>T	ENSP00000265729:p.Asp157Asn		87676632	NM_003130	A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	ENST00000265729.2	37	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	36	5.789257	0.96945	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	T;T;T;T;T	0.73469	-0.75;0.81;-0.75;-0.75;-0.75	5.87	5.87	0.94306	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87767	0.6260	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.966;1.0;1.0;1.0	D	0.87800	0.2624	10	0.62326	D	0.03	.	20.1861	0.98216	0.0:1.0:0.0:0.0	.	142;117;114;142;157	B4DKK2;B4DHQ6;C9J0K6;A8MTH6;P30626	.;.;.;.;SORCN_HUMAN	N	157;117;114;142;142	ENSP00000265729:D157N;ENSP00000397609:D117N;ENSP00000418512:D114N;ENSP00000378137:D142N;ENSP00000391148:D142N	ENSP00000265729:D157N	D	-	1	0	SRI	87676632	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	7.729000	0.84864	2.774000	0.95407	0.655000	0.94253	GAC		0.433	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130	
STEAP4	79689	broad.mit.edu	37	7	87912071	87912071	+	Missense_Mutation	SNP	C	C	T	rs377052757		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87912071C>T	ENST00000380079.4	-	3	970	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R290Q|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	290	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.R290Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCTGCTTTCGGCAAAGCAT	0.473																																					p.R290Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869A	7						.	C	GLN/ARG,GLN/ARG,	0,3964		0,0,1982	76.0	75.0	75.0		869,869,	6.1	1.0	7		75	1,8311		0,1,4155	no	missense,missense,intron	STEAP4	NM_001205315.1,NM_024636.3,NM_001205316.1	43,43,	0,1,6137	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,	290/460,290/460,	87912071	1,12275	1982	4156	6138	87750007	SO:0001583	missense	79689	exon3			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.869G>A	7.37:g.87912071C>T	ENSP00000369419:p.Arg290Gln		87750007	NM_024636	Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693123	0.96793	0.0	1.2E-4	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.92595	-3.07;-3.07	6.08	6.08	0.98989	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.91090	3.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97158	0.9836	10	0.87932	D	0	-12.647	20.6721	0.99693	0.0:1.0:0.0:0.0	.	290;290	C9JS50;Q687X5	.;STEA4_HUMAN	Q	290	ENSP00000369419:R290Q;ENSP00000394399:R290Q	ENSP00000369419:R290Q	R	-	2	0	STEAP4	87750007	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	CGA		0.473	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636	
STEAP4	79689	broad.mit.edu	37	7	87912292	87912292	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:87912292G>T	ENST00000380079.4	-	3	749	c.648C>A	c.(646-648)ttC>ttA	p.F216L	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.F216L|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	216					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.F216L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TAACACAATAGAAAAACAAGA	0.368																																					p.F216L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C648A	7						.						85.0	82.0	82.0					7																	87912292		1887	4108	5995	87750228	SO:0001583	missense	79689	exon3			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.648C>A	7.37:g.87912292G>T	ENSP00000369419:p.Phe216Leu		87750228	NM_024636	Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	0.266	-0.995927	0.02145	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.07567	3.51;3.18	6.08	2.9	0.33743	.	0.565371	0.22033	N	0.065575	T	0.02807	0.0084	N	0.10707	0.03	0.35501	D	0.799771	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.34204	-0.9838	10	0.02654	T	1	-0.3657	3.818	0.08824	0.126:0.272:0.4703:0.1317	.	216;216	C9JS50;Q687X5	.;STEA4_HUMAN	L	216	ENSP00000369419:F216L;ENSP00000394399:F216L	ENSP00000369419:F216L	F	-	3	2	STEAP4	87750228	1.000000	0.71417	0.981000	0.43875	0.316000	0.28119	0.770000	0.26618	1.545000	0.49373	0.591000	0.81541	TTC		0.368	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636	
ZNF804B	219578	broad.mit.edu	37	7	88962858	88962858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:88962858C>T	ENST00000333190.4	+	4	1171	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	188							metal ion binding (GO:0046872)	p.R188*(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATGCCAAATCGACACCAATT	0.418										HNSCC(36;0.09)																											p.R188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C562T	7						.						115.0	111.0	112.0					7																	88962858		2203	4300	6503	88800794	SO:0001587	stop_gained	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.562C>T	7.37:g.88962858C>T	ENSP00000329638:p.Arg188*		88800794	NM_181646	B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	40	8.148229	0.98678	.	.	ENSG00000182348	ENST00000333190	.	.	.	5.3	4.4	0.53042	.	0.129990	0.33938	N	0.004408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2873	12.2014	0.54328	0.5044:0.4956:0.0:0.0	.	.	.	.	X	188	.	ENSP00000329638:R188X	R	+	1	2	ZNF804B	88800794	0.025000	0.19082	0.909000	0.35828	0.973000	0.67179	0.855000	0.27805	1.437000	0.47472	0.650000	0.86243	CGA		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ZNF804B	219578	broad.mit.edu	37	7	88962921	88962921	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:88962921G>T	ENST00000333190.4	+	4	1234	c.625G>T	c.(625-627)Gat>Tat	p.D209Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	209							metal ion binding (GO:0046872)	p.D209Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACATCTTCAGATCTCAGCAA	0.388										HNSCC(36;0.09)																											p.D209Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625T	7						.						93.0	91.0	92.0					7																	88962921		2203	4300	6503	88800857	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.625G>T	7.37:g.88962921G>T	ENSP00000329638:p.Asp209Tyr		88800857	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	g	9.898	1.205992	0.22205	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	5.3	-0.631	0.11526	.	0.547615	0.17710	N	0.164625	T	0.04543	0.0124	L	0.44542	1.39	0.09310	N	0.999999	B	0.25048	0.117	B	0.21546	0.035	T	0.35425	-0.9789	10	0.39692	T	0.17	-1.0691	1.7839	0.03038	0.3894:0.0993:0.3443:0.167	.	209	A4D1E1	Z804B_HUMAN	Y	209	ENSP00000329638:D209Y	ENSP00000329638:D209Y	D	+	1	0	ZNF804B	88800857	0.410000	0.25376	0.903000	0.35520	0.922000	0.55478	0.353000	0.20130	-0.302000	0.08869	-0.127000	0.14921	GAT		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
ZNF804B	219578	broad.mit.edu	37	7	88966213	88966213	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:88966213C>A	ENST00000333190.4	+	4	4526	c.3917C>A	c.(3916-3918)tCt>tAt	p.S1306Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1306							metal ion binding (GO:0046872)	p.S1306Y(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCACAACTTCTATCATCCAC	0.433										HNSCC(36;0.09)																											p.S1306Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3917A	7						.						182.0	179.0	180.0					7																	88966213		2203	4300	6503	88804149	SO:0001583	missense	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3917C>A	7.37:g.88966213C>A	ENSP00000329638:p.Ser1306Tyr		88804149	NM_181646	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480468	0.63849	.	.	ENSG00000182348	ENST00000333190	T	0.07688	3.17	5.5	4.59	0.56863	.	0.094804	0.47455	D	0.000231	T	0.24509	0.0594	L	0.60455	1.87	0.31672	N	0.64425	D	0.76494	0.999	D	0.68192	0.956	T	0.01440	-1.1354	10	0.87932	D	0	-16.4743	15.9404	0.79750	0.135:0.865:0.0:0.0	.	1306	A4D1E1	Z804B_HUMAN	Y	1306	ENSP00000329638:S1306Y	ENSP00000329638:S1306Y	S	+	2	0	ZNF804B	88804149	0.994000	0.37717	0.977000	0.42913	0.929000	0.56500	5.022000	0.64078	2.854000	0.98071	0.655000	0.94253	TCT		0.433	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
STEAP1	26872	broad.mit.edu	37	7	89790367	89790367	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89790367C>A	ENST00000297205.2	+	3	533	c.333C>A	c.(331-333)atC>atA	p.I111I	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	111					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.I111I(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAATTCCAATCCTGGTCATCA	0.388																																					p.I111I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333A	7						.						62.0	64.0	64.0					7																	89790367		2203	4296	6499	89628303	SO:0001819	synonymous_variant	26872	exon3			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.333C>A	7.37:g.89790367C>A			89628303	NM_012449	A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	CCDS5614.1																																																																																				0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449	
STEAP2	261729	broad.mit.edu	37	7	89854682	89854682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89854682G>T	ENST00000287908.3	+	2	679	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	STEAP2_ENST00000394621.2_Nonsense_Mutation_p.E96*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.E96*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.E96*|STEAP2_ENST00000402625.2_Nonsense_Mutation_p.E96*|STEAP2_ENST00000394632.1_Nonsense_Mutation_p.E96*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.E96*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	96					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.E96*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATACACAGAGAACATTATAC	0.383																																					p.E96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	7						.						139.0	133.0	135.0					7																	89854682		2203	4300	6503	89692618	SO:0001587	stop_gained	261729	exon2			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.286G>T	7.37:g.89854682G>T	ENSP00000287908:p.Glu96*		89692618	NM_152999	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	ENST00000287908.3	37	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414312	0.96092	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9308	20.1142	0.97922	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000287908:E96X	E	+	1	0	STEAP2	89692618	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.862000	0.87013	2.765000	0.95021	0.650000	0.86243	GAA		0.383	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999	
CFAP69	79846	broad.mit.edu	37	7	89900867	89900867	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89900867A>C	ENST00000389297.4	+	7	811	c.560A>C	c.(559-561)aAg>aCg	p.K187T	C7orf63_ENST00000497910.1_Missense_Mutation_p.K169T|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.K187T|AC002064.4_ENST00000420245.1_RNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		187								p.K187T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCATCATACAAGATTCAAATG	0.333																																					p.K169T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A506C	7						.						105.0	98.0	100.0					7																	89900867		1852	4097	5949	89738803	SO:0001583	missense	79846	exon7																														ENST00000389297.4:c.560A>C	7.37:g.89900867A>C	ENSP00000373948:p.Lys187Thr		89738803	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067207	0.76301	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.11	6.11	0.99139	.	0.110364	0.64402	D	0.000013	T	0.66268	0.2772	M	0.76002	2.32	0.43069	D	0.994708	D;D;D	0.89917	0.963;0.992;1.0	P;P;D	0.91635	0.631;0.73;0.999	T	0.69705	-0.5073	10	0.72032	D	0.01	-12.3223	16.7021	0.85357	1.0:0.0:0.0:0.0	.	169;187;185	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	T	187;187;169;127	ENSP00000373948:K187T;ENSP00000321753:K187T;ENSP00000419549:K169T;ENSP00000392365:K127T	ENSP00000321753:K187T	K	+	2	0	C7orf63	89738803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.617000	0.67716	2.343000	0.79666	0.533000	0.62120	AAG		0.333	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CFAP69	79846	broad.mit.edu	37	7	89901131	89901131	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89901131C>A	ENST00000389297.4	+	8	970	c.719C>A	c.(718-720)gCc>gAc	p.A240D	C7orf63_ENST00000497910.1_Missense_Mutation_p.A222D|C7orf63_ENST00000463311.1_Intron|C7orf63_ENST00000316089.8_Missense_Mutation_p.A240D|AC002064.4_ENST00000420245.1_RNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		240								p.A240D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GCACAAGCAGCCAGTGGAATC	0.313																																					p.A222D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665A	7						.						25.0	25.0	25.0					7																	89901131		1806	4055	5861	89739067	SO:0001583	missense	79846	exon8																														ENST00000389297.4:c.719C>A	7.37:g.89901131C>A	ENSP00000373948:p.Ala240Asp		89739067	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.650939|4.650939	0.87958|0.87958	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170|ENST00000418199	T;T;T;T|.	0.50001|.	0.77;0.77;0.76;0.77|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78910|0.78910	0.4358|0.4358	M|M	0.78049|0.78049	2.395|2.395	0.53005|0.53005	D|D	0.999965|0.999965	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75020|.	0.985;0.982|.	T|T	0.77576|0.77576	-0.2536|-0.2536	10|5	0.66056|.	D|.	0.02|.	-6.5983|-6.5983	20.1454|20.1454	0.98074|0.98074	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	222;240|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	D|T	240;240;222;180|42	ENSP00000373948:A240D;ENSP00000321753:A240D;ENSP00000419549:A222D;ENSP00000392365:A180D|.	ENSP00000321753:A240D|.	A|P	+|+	2|1	0|0	C7orf63|C7orf63	89739067|89739067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.276000|6.276000	0.72601|0.72601	2.748000|2.748000	0.94277|0.94277	0.650000|0.650000	0.86243|0.86243	GCC|CCA		0.313	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CFAP69	79846	broad.mit.edu	37	7	89929334	89929334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89929334G>T	ENST00000389297.4	+	17	2262	c.2011G>T	c.(2011-2013)Gaa>Taa	p.E671*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E653*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E671*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		671								p.E671*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGAGGAAAAAGAACTAGGAGT	0.323																																					p.E653X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1957T	7						.						86.0	84.0	85.0					7																	89929334		1815	4081	5896	89767270	SO:0001587	stop_gained	79846	exon17																														ENST00000389297.4:c.2011G>T	7.37:g.89929334G>T	ENSP00000373948:p.Glu671*		89767270	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876121	0.72180	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.	.	.	5.81	4.92	0.64577	.	0.245199	0.40064	N	0.001184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-26.6468	15.1734	0.72894	0.0683:0.0:0.9317:0.0	.	.	.	.	X	671;671;653;254	.	ENSP00000321753:E671X	E	+	1	0	C7orf63	89767270	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.799000	0.69101	2.746000	0.94184	0.655000	0.94253	GAA		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
CFAP69	79846	broad.mit.edu	37	7	89939470	89939470	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:89939470A>C	ENST00000389297.4	+	23	2995	c.2744A>C	c.(2743-2745)aAa>aCa	p.K915T	AC002064.5_ENST00000445784.1_lincRNA|C7orf63_ENST00000497910.1_Missense_Mutation_p.K897T|C7orf63_ENST00000316089.8_Missense_Mutation_p.K869T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		915								p.K869T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GCTCTTAAAAAACTGCCCATT	0.438																																					p.K897T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2690C	7						.						110.0	102.0	105.0					7																	89939470		1884	4105	5989	89777406	SO:0001583	missense	79846	exon23																														ENST00000389297.4:c.2744A>C	7.37:g.89939470A>C	ENSP00000373948:p.Lys915Thr		89777406	NM_001160138	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.468540|2.468540	0.43839|0.43839	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839;ENST00000445156|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T|T;T;T;T	0.58358|0.26067	0.34;0.4|2.34;2.33;2.34;1.76	5.83|5.83	0.503|0.503	0.16940|0.16940	.|.	0.219974|0.219974	0.39341|0.39341	N|N	0.001395|0.001395	T|T	0.18923|0.18923	0.0454|0.0454	L|L	0.50919|0.50919	1.6|1.6	0.28625|0.28625	N|N	0.907969|0.907969	.|B;B	.|0.23990	.|0.095;0.061	.|B;B	.|0.20184	.|0.017;0.028	T|T	0.11891|0.11891	-1.0569|-1.0569	8|10	0.87932|0.54805	D|T	0|0.06	-10.4608|-10.4608	5.322|5.322	0.15885|0.15885	0.4617:0.151:0.3873:0.0|0.4617:0.151:0.3873:0.0	.|.	.|897;915	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	N|T	143;66|915;869;897;452	ENSP00000415818:K143N;ENSP00000414772:K66N|ENSP00000373948:K915T;ENSP00000321753:K869T;ENSP00000419549:K897T;ENSP00000391571:K452T	ENSP00000415818:K143N|ENSP00000321753:K869T	K|K	+|+	3|2	2|0	C7orf63|C7orf63	89777406|89777406	0.247000|0.247000	0.23920|0.23920	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	0.623000|0.623000	0.24447|0.24447	0.462000|0.462000	0.27095|0.27095	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.438	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
GTPBP10	85865	broad.mit.edu	37	7	90014304	90014304	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:90014304G>A	ENST00000222511.6	+	10	1066	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	GTPBP10_ENST00000257659.8_Missense_Mutation_p.E255K	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	334	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)	p.E334K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGAATCGAAGAATTAAAGAA	0.358																																					p.E334K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	7						.						103.0	102.0	103.0					7																	90014304		2203	4300	6503	89852240	SO:0001583	missense	85865	exon10				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.1000G>A	7.37:g.90014304G>A	ENSP00000222511:p.Glu334Lys		89852240	NM_033107	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149805	0.57151	.	.	ENSG00000105793	ENST00000257659;ENST00000222511	T;T	0.19394	2.15;2.15	5.74	4.87	0.63330	.	0.437829	0.28082	N	0.016675	T	0.26122	0.0637	M	0.83012	2.62	0.80722	D	1	B;B	0.28258	0.023;0.205	B;B	0.18263	0.016;0.021	T	0.04216	-1.0968	9	.	.	.	-11.7086	10.566	0.45173	0.1456:0.0:0.8544:0.0	.	255;334	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	K	255;334	ENSP00000257659:E255K;ENSP00000222511:E334K	.	E	+	1	0	GTPBP10	89852240	0.983000	0.35010	0.978000	0.43139	0.952000	0.60782	2.189000	0.42621	1.424000	0.47217	0.655000	0.94253	GAA		0.358	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107	
CLDN12	9069	broad.mit.edu	37	7	90042592	90042592	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:90042592C>A	ENST00000287916.4	+	3	889	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	CLDN12_ENST00000535571.1_Missense_Mutation_p.S201Y|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.S201Y	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	201					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S201Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						ACATGCAAATCTTTGCCTTCT	0.438																																					p.S201Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602A	7						.						213.0	206.0	208.0					7																	90042592		2203	4300	6503	89880528	SO:0001583	missense	9069	exon3			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.602C>A	7.37:g.90042592C>A	ENSP00000287916:p.Ser201Tyr		89880528	NM_012129	D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382338	0.42207	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.45	5.45	0.79879	.	0.307999	0.35585	N	0.003120	T	0.64011	0.2560	N	0.19112	0.55	0.41404	D	0.987691	P	0.37276	0.589	B	0.38056	0.264	T	0.69472	-0.5136	10	0.72032	D	0.01	-20.1441	16.0609	0.80838	0.0:0.8569:0.1431:0.0	.	201	P56749	CLD12_HUMAN	Y	201	ENSP00000419053:S201Y;ENSP00000287916:S201Y;ENSP00000443476:S201Y;ENSP00000378103:S201Y	ENSP00000287916:S201Y	S	+	2	0	CLDN12	89880528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.475000	0.53136	2.838000	0.97847	0.655000	0.94253	TCT		0.438	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129	
MTERF1	7978	broad.mit.edu	37	7	91503015	91503015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91503015C>A	ENST00000351870.3	-	3	1186	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	MTERF_ENST00000419292.1_Nonsense_Mutation_p.E345*|MTERF_ENST00000406735.2_Nonsense_Mutation_p.E345*	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		365					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E365*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTTACCAATTCTTTGATTCGA	0.323																																					p.E365X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1093T	7						.						85.0	84.0	84.0					7																	91503015		2202	4300	6502	91340951	SO:0001587	stop_gained	7978	exon3																														ENST00000351870.3:c.1093G>T	7.37:g.91503015C>A	ENSP00000248643:p.Glu365*		91340951	NM_006980	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Nonsense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446783	0.84101	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	.	.	.	4.89	4.89	0.63831	.	0.230728	0.33290	N	0.005069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-8.5804	17.7051	0.88306	0.0:1.0:0.0:0.0	.	.	.	.	X	345;365;345	.	ENSP00000248643:E365X	E	-	1	0	MTERF	91340951	1.000000	0.71417	0.910000	0.35882	0.804000	0.45430	6.749000	0.74883	2.652000	0.90054	0.591000	0.81541	GAA		0.323	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
MTERF1	7978	broad.mit.edu	37	7	91503330	91503330	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91503330G>A	ENST00000351870.3	-	3	871	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	MTERF_ENST00000419292.1_Missense_Mutation_p.R240W|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.R240W	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		260					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.R260W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			AAAGTTGACCGTAAGAATTCA	0.393																																					p.R260W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778T	7						.						50.0	51.0	51.0					7																	91503330		2203	4300	6503	91341266	SO:0001583	missense	7978	exon3																														ENST00000351870.3:c.778C>T	7.37:g.91503330G>A	ENSP00000248643:p.Arg260Trp		91341266	NM_006980	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304974	0.60305	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.13420	2.59;2.59;2.59	4.83	3.86	0.44501	.	0.278953	0.29185	N	0.012898	T	0.11537	0.0281	N	0.19112	0.55	0.19300	N	0.999976	D	0.64830	0.994	P	0.45558	0.485	T	0.11567	-1.0582	10	0.72032	D	0.01	-2.0299	13.4966	0.61430	0.0:0.0:0.8426:0.1573	.	260	Q99551	MTERF_HUMAN	W	240;260;240	ENSP00000414116:R240W;ENSP00000248643:R260W;ENSP00000384986:R240W	ENSP00000248643:R260W	R	-	1	2	MTERF	91341266	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	3.194000	0.51005	2.613000	0.88420	0.585000	0.79938	CGG		0.393	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
MTERF1	7978	broad.mit.edu	37	7	91503394	91503394	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91503394A>C	ENST00000351870.3	-	3	807	c.714T>G	c.(712-714)atT>atG	p.I238M	MTERF_ENST00000419292.1_Missense_Mutation_p.I218M|MTERF_ENST00000481516.1_5'Flank|MTERF_ENST00000406735.2_Missense_Mutation_p.I218M	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		238					DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.I238M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GGTTTTTAAAAATTATCTTTC	0.388																																					p.I238M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T714G	7						.						40.0	44.0	43.0					7																	91503394		2202	4299	6501	91341330	SO:0001583	missense	7978	exon3																														ENST00000351870.3:c.714T>G	7.37:g.91503394A>C	ENSP00000248643:p.Ile238Met		91341330	NM_006980	A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	ENST00000351870.3	37	CCDS5621.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124978	0.56613	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.12569	2.67;2.67;2.67	4.94	3.81	0.43845	.	0.136472	0.45867	D	0.000332	T	0.31295	0.0792	M	0.66939	2.045	0.40905	D	0.98418	D	0.56287	0.975	D	0.70487	0.969	T	0.03957	-1.0989	10	0.72032	D	0.01	-9.7823	9.646	0.39868	0.9139:0.0:0.0861:0.0	.	238	Q99551	MTERF_HUMAN	M	218;238;218	ENSP00000414116:I218M;ENSP00000248643:I238M;ENSP00000384986:I218M	ENSP00000248643:I238M	I	-	3	3	MTERF	91341330	0.999000	0.42202	0.994000	0.49952	0.920000	0.55202	0.728000	0.26013	2.158000	0.67659	0.477000	0.44152	ATT		0.388	MTERF-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342896.1		
AKAP9	10142	broad.mit.edu	37	7	91631398	91631398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91631398G>T	ENST00000359028.2	+	9	2428	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E723*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	735	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E723*(1)|p.E735*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAAATCAATGAACTTCAAAA	0.284			T	BRAF	papillary thyroid																																p.E723X			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2167T	7						.																																			91469334	SO:0001587	stop_gained	10142	exon8			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2203G>T	7.37:g.91631398G>T	ENSP00000351922:p.Glu735*		91469334	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	39	7.823574	0.98510	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.73	5.73	0.89815	.	0.000000	0.42821	D	0.000656	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.5094	0.67774	0.0701:0.0:0.9299:0.0	.	.	.	.	X	723;735;735;735;735	.	ENSP00000348573:E723X	E	+	1	0	AKAP9	91469334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.445000	0.73456	2.881000	0.98747	0.650000	0.86243	GAA		0.284	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91709403	91709403	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91709403C>A	ENST00000359028.2	+	32	8217	c.7992C>A	c.(7990-7992)ggC>ggA	p.G2664G	AKAP9_ENST00000358100.2_Silent_p.G2664G|AKAP9_ENST00000356239.3_Silent_p.G2652G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2664	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.G2664G(1)|p.G2652G(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATTGGAGGGCAATGAGAAAA	0.303			T	BRAF	papillary thyroid																																p.G2644G			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7932A	7						.						19.0	21.0	20.0					7																	91709403		2055	4222	6277	91547339	SO:0001819	synonymous_variant	10142	exon31			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7992C>A	7.37:g.91709403C>A			91547339	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37																																																																																					0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91726945	91726945	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91726945C>A	ENST00000359028.2	+	42	10681	c.10456C>A	c.(10456-10458)Ctt>Att	p.L3486I	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3432I|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3482I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3486					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L3486I(2)|p.L3482I(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTGGGTTCTTCAACAGAA	0.353			T	BRAF	papillary thyroid																																p.L3474I			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C10420A	7						.						80.0	81.0	81.0					7																	91726945		2203	4300	6503	91564881	SO:0001583	missense	10142	exon42			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10456C>A	7.37:g.91726945C>A	ENSP00000351922:p.Leu3486Ile		91564881	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	11.70	1.715644	0.30413	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04654	3.68;3.68;3.69;3.58	5.32	4.43	0.53597	.	0.000000	0.37577	N	0.002028	T	0.10637	0.0260	M	0.75447	2.3	0.30182	N	0.80032	D;B;B;P;P	0.53885	0.963;0.087;0.404;0.539;0.539	P;B;B;B;B	0.48454	0.578;0.063;0.082;0.17;0.17	T	0.04855	-1.0922	10	0.59425	D	0.04	.	8.4654	0.32953	0.1541:0.7682:0.0:0.0777	.	757;3486;3486;3482;3474	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	I	3482;3486;3432;3486;1328	ENSP00000348573:L3482I;ENSP00000351922:L3486I;ENSP00000350813:L3432I;ENSP00000378042:L1328I	ENSP00000348573:L3482I	L	+	1	0	AKAP9	91564881	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.693000	0.37742	1.349000	0.45751	0.585000	0.79938	CTT		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
ANKIB1	54467	broad.mit.edu	37	7	91936790	91936790	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:91936790C>A	ENST00000265742.3	+	3	682	c.306C>A	c.(304-306)cgC>cgA	p.R102R		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	102							zinc ion binding (GO:0008270)	p.R102R(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCATCCTCGCTTGGCACGCC	0.418																																					p.R102R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306A	7						.						104.0	102.0	102.0					7																	91936790		1928	4137	6065	91774726	SO:0001819	synonymous_variant	54467	exon3			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.306C>A	7.37:g.91936790C>A			91774726	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	CCDS47639.1																																																																																				0.418	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
ANKIB1	54467	broad.mit.edu	37	7	92027925	92027925	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92027925C>A	ENST00000265742.3	+	20	3308	c.2932C>A	c.(2932-2934)Cat>Aat	p.H978N		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	978							zinc ion binding (GO:0008270)	p.H978N(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTTGGTTTCATGACATGAA	0.488																																					p.H978N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2932A	7						.						123.0	120.0	121.0					7																	92027925		2014	4186	6200	91865861	SO:0001583	missense	54467	exon20			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2932C>A	7.37:g.92027925C>A	ENSP00000265742:p.His978Asn		91865861	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520174	0.64747	.	.	ENSG00000001629	ENST00000265742	T	0.10860	2.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.32530	0.975	0.80722	D	1	D;B	0.89917	1.0;0.034	D;B	0.87578	0.998;0.012	T	0.00520	-1.1692	10	0.87932	D	0	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	330;978	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	N	978	ENSP00000265742:H978N	ENSP00000265742:H978N	H	+	1	0	ANKIB1	91865861	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.587000	0.67510	2.941000	0.99782	0.655000	0.94253	CAT		0.488	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
PEX1	5189	broad.mit.edu	37	7	92129040	92129040	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92129040C>A	ENST00000248633.4	-	16	2791	c.2696G>T	c.(2695-2697)aGa>aTa	p.R899I	PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R577I|PEX1_ENST00000428214.1_Missense_Mutation_p.R842I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	899					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R899I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAATTCATTCTACTCTCTCG	0.348																																					p.R899I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2696T	7						.						146.0	145.0	145.0					7																	92129040		2203	4300	6503	91966976	SO:0001583	missense	5189	exon16			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2696G>T	7.37:g.92129040C>A	ENSP00000248633:p.Arg899Ile		91966976	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270193	0.80469	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.95001	-3.58;-3.58;-3.58	5.51	5.51	0.81932	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.153798	0.64402	D	0.000015	D	0.96034	0.8708	M	0.74389	2.26	0.80722	D	1	B;B;B	0.30526	0.204;0.243;0.283	B;B;B	0.43838	0.433;0.159;0.173	D	0.95272	0.8378	10	0.66056	D	0.02	-6.3529	19.4363	0.94796	0.0:1.0:0.0:0.0	.	577;691;899	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	577;899;842	ENSP00000410438:R577I;ENSP00000248633:R899I;ENSP00000394413:R842I	ENSP00000248633:R899I	R	-	2	0	PEX1	91966976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.606000	0.88127	0.650000	0.86243	AGA		0.348	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
PEX1	5189	broad.mit.edu	37	7	92129115	92129115	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92129115C>A	ENST00000248633.4	-	16	2716	c.2621G>T	c.(2620-2622)aGa>aTa	p.R874I	PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.R552I|PEX1_ENST00000428214.1_Missense_Mutation_p.R817I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	874					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R874I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TATTCCTGTTCTTTGTCGTAT	0.363																																					p.R874I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2621T	7						.						129.0	126.0	127.0					7																	92129115		2203	4300	6503	91967051	SO:0001583	missense	5189	exon16			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2621G>T	7.37:g.92129115C>A	ENSP00000248633:p.Arg874Ile		91967051	NM_000466	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655521	0.88056	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94793	-3.52;-3.52;-3.52	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.045170	0.85682	D	0.000000	D	0.97241	0.9098	M	0.89163	3.01	0.80722	D	1	P;P;P	0.46784	0.88;0.884;0.84	P;P;P	0.55391	0.775;0.453;0.461	D	0.97437	1.0019	10	0.59425	D	0.04	-20.835	19.4363	0.94796	0.0:1.0:0.0:0.0	.	552;666;874	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	552;874;817	ENSP00000410438:R552I;ENSP00000248633:R874I;ENSP00000394413:R817I	ENSP00000248633:R874I	R	-	2	0	PEX1	91967051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.692000	0.68256	2.606000	0.88127	0.650000	0.86243	AGA		0.363	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
RBM48	84060	broad.mit.edu	37	7	92161754	92161754	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92161754C>T	ENST00000265732.5	+	3	380	c.339C>T	c.(337-339)ttC>ttT	p.F113F	RBM48_ENST00000481551.1_Silent_p.F113F	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	113	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)	p.F113F(1)									AGAGTTTCTTCGGTGGATTGC	0.353																																					p.F113F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	7						.						158.0	146.0	150.0					7																	92161754		1823	4091	5914	91999690	SO:0001819	synonymous_variant	84060	exon3			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.339C>T	7.37:g.92161754C>T			91999690	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	CCDS43615.1																																																																																				0.353	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
RBM48	84060	broad.mit.edu	37	7	92164267	92164267	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92164267C>T	ENST00000265732.5	+	4	1041	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	RBM48_ENST00000481551.1_Missense_Mutation_p.R334W	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	334						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R334W(1)									GAATTTAATTCGGCATAAACT	0.338																																					p.R334W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000T	7						.						40.0	39.0	39.0					7																	92164267		1817	4072	5889	92002203	SO:0001583	missense	84060	exon4			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.1000C>T	7.37:g.92164267C>T	ENSP00000265732:p.Arg334Trp		92002203	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698692	0.30142	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.11	3.23	0.37069	.	0.101210	0.64402	N	0.000005	T	0.69106	0.3074	L	0.52126	1.63	0.58432	D	0.999999	D;P	0.89917	1.0;0.7	D;B	0.91635	0.999;0.095	T	0.70802	-0.4773	9	0.87932	D	0	2.5305	12.8541	0.57876	0.4276:0.5724:0.0:0.0	.	334;334	B7Z2K5;Q5RL73	.;CG064_HUMAN	W	334	.	ENSP00000265732:R334W	R	+	1	2	C7orf64	92002203	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	1.099000	0.31013	0.688000	0.31529	0.467000	0.42956	CGG		0.338	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
SAMD9	54809	broad.mit.edu	37	7	92731949	92731949	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92731949A>C	ENST00000379958.2	-	3	3731	c.3462T>G	c.(3460-3462)gaT>gaG	p.D1154E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1154						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.D1154E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCTGCTAAATCCAAAAGAG	0.383																																					p.D1154E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3462G	7						.						206.0	209.0	208.0					7																	92731949		2203	4300	6503	92569885	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3462T>G	7.37:g.92731949A>C	ENSP00000369292:p.Asp1154Glu		92569885	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.443596	0.00178	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.20200	2.09;2.9	4.39	-8.78	0.00824	.	0.706571	0.12751	N	0.442173	T	0.04861	0.0131	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	10	0.02654	T	1	0.0896	10.6564	0.45678	0.186:0.1033:0.0:0.7108	.	1154	Q5K651	SAMD9_HUMAN	E	1154	ENSP00000369292:D1154E;ENSP00000414529:D1154E	ENSP00000369292:D1154E	D	-	3	2	SAMD9	92569885	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-4.104000	0.00294	-1.608000	0.01587	0.418000	0.28097	GAT		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92732492	92732492	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92732492G>A	ENST00000379958.2	-	3	3188	c.2919C>T	c.(2917-2919)atC>atT	p.I973I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	973						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.I973I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCCCACATTCGATGACCTCTG	0.388																																					p.I973I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2919T	7						.						126.0	123.0	124.0					7																	92732492		2203	4300	6503	92570428	SO:0001819	synonymous_variant	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2919C>T	7.37:g.92732492G>A			92570428	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92733306	92733306	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92733306G>T	ENST00000379958.2	-	3	2374	c.2105C>A	c.(2104-2106)tCt>tAt	p.S702Y		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	702						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.S702Y(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAAGGTGAAGAATAACTTTC	0.343																																					p.S702Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2105A	7						.						153.0	152.0	152.0					7																	92733306		2203	4299	6502	92571242	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2105C>A	7.37:g.92733306G>T	ENSP00000369292:p.Ser702Tyr		92571242	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755328	0.31046	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.25579	1.79;2.6	4.51	4.51	0.55191	.	0.402817	0.21581	N	0.072254	T	0.46347	0.1388	M	0.62723	1.935	0.26375	N	0.976836	D	0.65815	0.995	P	0.62885	0.908	T	0.34825	-0.9813	10	0.66056	D	0.02	.	15.9256	0.79615	0.0:0.0:1.0:0.0	.	702	Q5K651	SAMD9_HUMAN	Y	702	ENSP00000369292:S702Y;ENSP00000414529:S702Y	ENSP00000369292:S702Y	S	-	2	0	SAMD9	92571242	0.000000	0.05858	0.884000	0.34674	0.379000	0.30106	0.728000	0.26013	2.335000	0.79485	0.609000	0.83330	TCT		0.343	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92733781	92733781	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92733781G>T	ENST00000379958.2	-	3	1899	c.1630C>A	c.(1630-1632)Cta>Ata	p.L544I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	544						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L544I(1)|p.L544V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GACAGTAATAGAAATACCACC	0.398																																					p.L544I												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1630A	7						.						85.0	88.0	87.0					7																	92733781		2203	4299	6502	92571717	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1630C>A	7.37:g.92733781G>T	ENSP00000369292:p.Leu544Ile		92571717	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	9.016	0.983656	0.18889	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.38560	1.13;1.13	4.25	1.64	0.23874	.	0.149206	0.26907	U	0.021894	T	0.33352	0.0860	L	0.46885	1.475	0.22500	N	0.999046	P	0.41673	0.759	B	0.43052	0.406	T	0.17379	-1.0371	10	0.52906	T	0.07	.	3.5359	0.07794	0.353:0.0:0.4724:0.1746	.	544	Q5K651	SAMD9_HUMAN	I	544	ENSP00000369292:L544I;ENSP00000414529:L544I	ENSP00000369292:L544I	L	-	1	2	SAMD9	92571717	0.979000	0.34478	0.771000	0.31576	0.360000	0.29518	0.165000	0.16564	0.232000	0.21100	0.603000	0.83216	CTA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92734110	92734110	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92734110A>C	ENST00000379958.2	-	3	1570	c.1301T>G	c.(1300-1302)aTt>aGt	p.I434S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	434						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.I434S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAACCATTTAATTTCCTTCAG	0.348																																					p.I434S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1301G	7						.						43.0	44.0	44.0					7																	92734110		2202	4300	6502	92572046	SO:0001583	missense	54809	exon2			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1301T>G	7.37:g.92734110A>C	ENSP00000369292:p.Ile434Ser		92572046	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492238	0.64074	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14516	2.5;2.5	4.06	4.06	0.47325	.	0.092996	0.41194	U	0.000929	T	0.29321	0.0730	M	0.62723	1.935	0.39814	D	0.972744	D	0.69078	0.997	P	0.60789	0.879	T	0.08638	-1.0712	10	0.87932	D	0	-8.4804	12.2328	0.54497	1.0:0.0:0.0:0.0	.	434	Q5K651	SAMD9_HUMAN	S	434	ENSP00000369292:I434S;ENSP00000414529:I434S	ENSP00000369292:I434S	I	-	2	0	SAMD9	92572046	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	8.733000	0.91539	1.821000	0.53095	0.491000	0.48974	ATT		0.348	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	broad.mit.edu	37	7	92761456	92761456	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92761456G>T	ENST00000318238.4	-	5	5045	c.3829C>A	c.(3829-3831)Ctt>Att	p.L1277I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1277I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1277I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1277					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L1277I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTTCAGAAGAACCATATAA	0.318																																					p.L1277I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3829A	7						.						70.0	73.0	72.0					7																	92761456		2198	4297	6495	92599392	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3829C>A	7.37:g.92761456G>T	ENSP00000326247:p.Leu1277Ile		92599392	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003535	0.19121	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.23754	1.89;1.89;1.89	4.77	2.63	0.31362	.	0.541604	0.16997	N	0.191061	T	0.22589	0.0545	L	0.53249	1.67	0.09310	N	0.999994	P	0.38078	0.617	B	0.37144	0.242	T	0.11717	-1.0576	10	0.54805	T	0.06	-2.1519	6.5989	0.22689	0.4797:0.0:0.5203:0.0	.	1277	Q8IVG5	SAM9L_HUMAN	I	1277	ENSP00000326247:L1277I;ENSP00000405760:L1277I;ENSP00000408796:L1277I	ENSP00000326247:L1277I	L	-	1	0	SAMD9L	92599392	0.694000	0.27738	0.908000	0.35775	0.855000	0.48748	1.168000	0.31859	0.514000	0.28300	0.467000	0.42956	CTT		0.318	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92761865G>A	ENST00000318238.4	-	5	4636	c.3420C>T	c.(3418-3420)aaC>aaT	p.N1140N	SAMD9L_ENST00000437805.1_Silent_p.N1140N|SAMD9L_ENST00000411955.1_Silent_p.N1140N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1140					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.N1140N(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTCCTACAGTTTTTGTTCC	0.383																																					p.N1140N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3420T	7						.						114.0	118.0	116.0					7																	92761865		2203	4299	6502	92599801	SO:0001819	synonymous_variant	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3420C>T	7.37:g.92761865G>A			92599801	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	CCDS34681.1																																																																																				0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92762490	92762490	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92762490A>G	ENST00000318238.4	-	5	4011	c.2795T>C	c.(2794-2796)gTt>gCt	p.V932A	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V932A|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V932A	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	932					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.V932A(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGTCAGTAACATAAGAGCT	0.383																																					p.V932A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2795C	7						.						93.0	88.0	90.0					7																	92762490		2203	4299	6502	92600426	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2795T>C	7.37:g.92762490A>G	ENSP00000326247:p.Val932Ala		92600426	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452664	0.43531	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.28255	1.62;1.62;1.62	5.22	5.22	0.72569	.	0.279479	0.28166	N	0.016341	T	0.41604	0.1166	M	0.65498	2.005	0.45087	D	0.998101	P	0.51791	0.948	P	0.47827	0.558	T	0.44847	-0.9301	10	0.87932	D	0	-16.596	14.9182	0.70815	1.0:0.0:0.0:0.0	.	932	Q8IVG5	SAM9L_HUMAN	A	932	ENSP00000326247:V932A;ENSP00000405760:V932A;ENSP00000408796:V932A	ENSP00000326247:V932A	V	-	2	0	SAMD9L	92600426	1.000000	0.71417	0.476000	0.27291	0.001000	0.01503	5.948000	0.70249	2.193000	0.70182	0.383000	0.25322	GTT		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92764009	92764009	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92764009G>A	ENST00000318238.4	-	5	2492	c.1276C>T	c.(1276-1278)Cca>Tca	p.P426S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P426S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P426S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	426					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.P426S(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTGGTTTGGATGGCATTTA	0.348																																					p.P426S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	7						.						98.0	102.0	101.0					7																	92764009		2203	4299	6502	92601945	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1276C>T	7.37:g.92764009G>A	ENSP00000326247:p.Pro426Ser		92601945	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514820	0.44763	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.16597	2.33;2.33;2.33	4.74	3.86	0.44501	.	0.154759	0.42548	D	0.000683	T	0.19685	0.0473	M	0.65498	2.005	0.39922	D	0.97416	P	0.36683	0.565	B	0.35655	0.207	T	0.05338	-1.0891	10	0.32370	T	0.25	-11.4075	12.6483	0.56748	0.0813:0.0:0.9187:0.0	.	426	Q8IVG5	SAM9L_HUMAN	S	426	ENSP00000326247:P426S;ENSP00000405760:P426S;ENSP00000408796:P426S	ENSP00000326247:P426S	P	-	1	0	SAMD9L	92601945	1.000000	0.71417	0.623000	0.29173	0.588000	0.36517	5.492000	0.66893	1.226000	0.43582	-0.384000	0.06662	CCA		0.348	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SAMD9L	219285	broad.mit.edu	37	7	92764081	92764081	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92764081G>T	ENST00000318238.4	-	5	2420	c.1204C>A	c.(1204-1206)Ctc>Atc	p.L402I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L402I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L402I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	402					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.L402I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCCTATGAGAAGTTTAACC	0.358																																					p.L402I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1204A	7						.						156.0	158.0	157.0					7																	92764081		2203	4299	6502	92602017	SO:0001583	missense	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1204C>A	7.37:g.92764081G>T	ENSP00000326247:p.Leu402Ile		92602017	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033940	0.35893	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.12879	2.64;2.64;2.64	4.74	2.91	0.33838	.	0.104633	0.33875	N	0.004462	T	0.10508	0.0257	L	0.39397	1.21	0.34792	D	0.735819	P	0.40619	0.724	B	0.39152	0.292	T	0.20306	-1.0279	10	0.51188	T	0.08	-5.9358	5.1712	0.15110	0.1765:0.0:0.6592:0.1643	.	402	Q8IVG5	SAM9L_HUMAN	I	402	ENSP00000326247:L402I;ENSP00000405760:L402I;ENSP00000408796:L402I	ENSP00000326247:L402I	L	-	1	0	SAMD9L	92602017	0.872000	0.30054	0.990000	0.47175	0.969000	0.65631	1.322000	0.33689	0.591000	0.29711	0.460000	0.39030	CTC		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
HEPACAM2	253012	broad.mit.edu	37	7	92825175	92825175	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:92825175A>C	ENST00000394468.2	-	8	1318	c.1241T>G	c.(1240-1242)tTt>tGt	p.F414C	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.L394V|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F402C|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F437C	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	414					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.F402C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAAAGCAACAAATTCATATAT	0.388																																					p.F402C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1205G	7						.						119.0	116.0	117.0					7																	92825175		2203	4300	6503	92663111	SO:0001583	missense	253012	exon7			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1241T>G	7.37:g.92825175A>C	ENSP00000377980:p.Phe414Cys		92663111	NM_198151	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.869048|2.869048	0.51588|0.51588	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000453812|ENST00000440868	T;T;T|T	0.60171|0.59772	0.21;0.25;0.25|0.24	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46580|0.46580	0.1400|0.1400	L|L	0.36672|0.36672	1.1|1.1	0.49130|0.49130	D|D	0.999755|0.999755	D;D;D|P	0.89917|0.37525	1.0;1.0;1.0|0.598	D;D;D|B	0.91635|0.34824	0.998;0.998;0.999|0.19	T|T	0.46925|0.46925	-0.9156|-0.9156	10|9	0.02654|0.37606	T|T	1|0.19	-23.0595|-23.0595	13.5382|13.5382	0.61657|0.61657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	437;414;402|394	E9PDV5;A8MVW5;A8MVW5-2|C9JN07	.;HECA2_HUMAN;.|.	C|V	414;402;437|394	ENSP00000377980:F414C;ENSP00000340532:F402C;ENSP00000390204:F437C|ENSP00000389592:L394V	ENSP00000340532:F402C|ENSP00000389592:L394V	F|L	-|-	2|1	0|2	HEPACAM2|HEPACAM2	92663111|92663111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.420000|5.420000	0.66441|0.66441	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.388	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
CALCR	799	broad.mit.edu	37	7	93090197	93090197	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:93090197G>T	ENST00000394441.1	-	7	899	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	CALCR_ENST00000360249.4_Missense_Mutation_p.S211Y|CALCR_ENST00000421592.1_Missense_Mutation_p.S211Y|CALCR_ENST00000359558.2_Missense_Mutation_p.S229Y|CALCR_ENST00000426151.1_Missense_Mutation_p.S195Y	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	229					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.S195Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GATAATCATAGAATTCAGAAT	0.408																																					p.S195Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584A	7						.						140.0	137.0	138.0					7																	93090197		2203	4300	6503	92928133	SO:0001583	missense	799	exon8			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.584C>A	7.37:g.93090197G>T	ENSP00000377959:p.Ser195Tyr		92928133	NM_001742	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599969	0.66332	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.47869	0.83;1.04;1.04;1.04;1.04	5.44	5.44	0.79542	.	.	.	.	.	T	0.72661	0.3488	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.76334	-0.2997	9	0.87932	D	0	.	18.4169	0.90574	0.0:0.0:1.0:0.0	.	229;195	F5H605;A4D1G6	.;.	Y	229;211;211;195;195	ENSP00000352561:S229Y;ENSP00000353385:S211Y;ENSP00000399552:S211Y;ENSP00000377959:S195Y;ENSP00000389295:S195Y	ENSP00000352561:S229Y	S	-	2	0	CALCR	92928133	1.000000	0.71417	0.706000	0.30403	0.314000	0.28054	8.491000	0.90468	2.719000	0.93026	0.555000	0.69702	TCT		0.408	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
COL1A2	1278	broad.mit.edu	37	7	94041406	94041406	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:94041406C>T	ENST00000297268.6	+	24	1848	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	459					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.I459I(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)	CTGGAAATATCGGCCCCGCTG	0.378										HNSCC(75;0.22)																											p.I459I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1377T	7						.						91.0	86.0	88.0					7																	94041406		2203	4300	6503	93879342	SO:0001819	synonymous_variant	1278	exon24			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.1377C>T	7.37:g.94041406C>T			93879342	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																																																																																				0.378	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
CASD1	64921	broad.mit.edu	37	7	94167039	94167039	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:94167039C>A	ENST00000297273.4	+	9	1386	c.1099C>A	c.(1099-1101)Ctt>Att	p.L367I		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	367						integral component of membrane (GO:0016021)		p.L367I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTAGAAATACTTTTACAATC	0.348																																					p.L367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099A	7						.						107.0	121.0	116.0					7																	94167039		2203	4300	6503	94004975	SO:0001583	missense	64921	exon9			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1099C>A	7.37:g.94167039C>A	ENSP00000297273:p.Leu367Ile		94004975	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999446	0.35320	.	.	ENSG00000127995	ENST00000297273	T	0.46451	0.87	5.52	3.62	0.41486	.	0.178751	0.49916	D	0.000126	T	0.37237	0.0996	L	0.55213	1.73	0.43652	D	0.996067	B;B	0.14012	0.009;0.009	B;B	0.21151	0.033;0.033	T	0.18808	-1.0325	10	0.26408	T	0.33	.	11.949	0.52944	0.0:0.8094:0.122:0.0685	.	367;367	Q8WZ77;Q96PB1	.;CASD1_HUMAN	I	367	ENSP00000297273:L367I	ENSP00000297273:L367I	L	+	1	0	CASD1	94004975	0.999000	0.42202	1.000000	0.80357	0.730000	0.41778	1.469000	0.35343	1.481000	0.48307	0.591000	0.81541	CTT		0.348	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
CASD1	64921	broad.mit.edu	37	7	94174866	94174866	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:94174866C>T	ENST00000297273.4	+	12	1773	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	496						integral component of membrane (GO:0016021)		p.R496C(2)		NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTTTATTTCGTCTCAATTT	0.358																																					p.R496C												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.C1486T	7						.						173.0	150.0	158.0					7																	94174866		2203	4299	6502	94012802	SO:0001583	missense	64921	exon12			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1486C>T	7.37:g.94174866C>T	ENSP00000297273:p.Arg496Cys		94012802	NM_022900	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187546	0.78789	.	.	ENSG00000127995	ENST00000297273	T	0.57752	0.38	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	T	0.82914	-0.0221	10	0.87932	D	0	.	18.7033	0.91629	0.0:1.0:0.0:0.0	.	496;496	Q8WZ77;Q96PB1	.;CASD1_HUMAN	C	496	ENSP00000297273:R496C	ENSP00000297273:R496C	R	+	1	0	CASD1	94012802	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.823000	0.69272	2.489000	0.83994	0.491000	0.48974	CGT		0.358	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	
PPP1R9A	55607	broad.mit.edu	37	7	94539496	94539496	+	Missense_Mutation	SNP	G	G	A	rs140272671		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:94539496G>A	ENST00000433881.1	+	2	603	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R24Q|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R24Q|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.R24Q|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R24Q|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R24Q			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	24	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.R24Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATGCATATCGAACTGAGTTT	0.473										HNSCC(28;0.073)																											p.R24Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	7						.						53.0	53.0	53.0					7																	94539496		2203	4300	6503	94377432	SO:0001583	missense	55607	exon1			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.71G>A	7.37:g.94539496G>A	ENSP00000398870:p.Arg24Gln		94377432	NM_001166163	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265260	0.59431	.	.	ENSG00000158528	ENST00000413325;ENST00000433360;ENST00000340694;ENST00000424654;ENST00000422324;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15017	2.46;2.48;2.46;2.48;2.46;2.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.44561	0.1299	M	0.72118	2.19	0.41414	D	0.987754	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.978;0.997;0.997;0.965;0.949	T	0.22765	-1.0207	10	0.52906	T	0.07	.	19.8016	0.96509	0.0:0.0:1.0:0.0	.	24;24;24;24;24	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	Q	24	ENSP00000405514:R24Q;ENSP00000344524:R24Q;ENSP00000411342:R24Q;ENSP00000398870:R24Q;ENSP00000289495:R24Q;ENSP00000402893:R24Q	ENSP00000289495:R24Q	R	+	2	0	PPP1R9A	94377432	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.597000	0.82733	2.770000	0.95276	0.655000	0.94253	CGA		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
PON3	5446	broad.mit.edu	37	7	94992147	94992147	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:94992147G>T	ENST00000265627.5	-	7	712	c.702C>A	c.(700-702)gtC>gtA	p.V234V	PON3_ENST00000451904.1_Silent_p.V234V|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	234					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.V234V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CAGCTACATAGACATACCTTT	0.373																																					p.V234V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702A	7						.						172.0	147.0	155.0					7																	94992147		2203	4300	6503	94830083	SO:0001819	synonymous_variant	5446	exon7			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.702C>A	7.37:g.94992147G>T			94830083	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	CCDS5639.1																																																																																				0.373	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
ASB4	51666	broad.mit.edu	37	7	95125342	95125342	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95125342C>A	ENST00000325885.5	+	2	531	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	ASB4_ENST00000428113.1_Missense_Mutation_p.L154I|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	154					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.L154I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGTTCCATTCTCTGTGCCAA	0.463																																					p.L154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	7						.						144.0	127.0	132.0					7																	95125342		2203	4300	6503	94963278	SO:0001583	missense	51666	exon2			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.460C>A	7.37:g.95125342C>A	ENSP00000321388:p.Leu154Ile		94963278	NM_016116	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191275	0.38707	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.64260	-0.09;-0.09	5.35	3.42	0.39159	Ankyrin repeat-containing domain (3);	0.446032	0.25484	N	0.030347	T	0.44519	0.1297	N	0.12961	0.28	0.27118	N	0.962201	B;B	0.19583	0.003;0.037	B;B	0.21917	0.005;0.037	T	0.44967	-0.9293	10	0.52906	T	0.07	-17.4091	11.5333	0.50622	0.1276:0.6248:0.2475:0.0	.	154;154	Q9Y574;Q14D68	ASB4_HUMAN;.	I	154	ENSP00000321388:L154I;ENSP00000397070:L154I	ENSP00000321388:L154I	L	+	1	0	ASB4	94963278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.154000	0.50693	1.378000	0.46305	0.655000	0.94253	CTC		0.463	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116	
PDK4	5166	broad.mit.edu	37	7	95222119	95222119	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95222119C>T	ENST00000005178.5	-	4	679	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	161	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.	Interaction with the other subunit in the homodimer.			cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.R161Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGTAAAATCGATCCAAGAA	0.383																																					p.R161Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	7						.						145.0	140.0	141.0					7																	95222119		2203	4300	6503	95060055	SO:0001583	missense	5166	exon4			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.482G>A	7.37:g.95222119C>T	ENSP00000005178:p.Arg161Gln		95060055	NM_002612		Missense_Mutation	SNP	ENST00000005178.5	37	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833411	0.97003	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.34667	1.35	5.75	5.75	0.90469	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72187	0.3429	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78404	-0.2217	10	0.72032	D	0.01	.	20.3271	0.98704	0.0:1.0:0.0:0.0	.	161	Q16654	PDK4_HUMAN	Q	161;125	ENSP00000005178:R161Q	ENSP00000005178:R161Q	R	-	2	0	PDK4	95060055	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGA		0.383	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	
DYNC1I1	1780	broad.mit.edu	37	7	95657515	95657515	+	Missense_Mutation	SNP	G	G	A	rs376275541		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95657515G>A	ENST00000324972.6	+	11	1242	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.R313H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.R333H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.R333H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.R313H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.R330H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.R350H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGCTTCGCCCGTTTCCATCCT	0.512																																					p.R350H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1049A	7						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	241.0	212.0	222.0		998,938,1049	5.0	1.0	7		222	0,8600		0,0,4300	no	missense,missense,missense	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	333/629,313/609,350/646	95657515	1,13005	2203	4300	6503	95495451	SO:0001583	missense	1780	exon11			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1049G>A	7.37:g.95657515G>A	ENSP00000320130:p.Arg350His		95495451	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611195	0.87258	2.27E-4	0.0	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057497	0.64402	D	0.000002	T	0.19127	0.0459	L	0.55990	1.75	0.50813	D	0.999896	D;D;D;D;D	0.61080	0.962;0.978;0.978;0.962;0.989	P;P;P;P;P	0.59056	0.628;0.851;0.795;0.714;0.541	T	0.00062	-1.2156	10	0.72032	D	0.01	-10.2341	18.9501	0.92638	0.0:0.0:1.0:0.0	.	333;330;333;350;313	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	333;350;313;330;313;333	ENSP00000392337:R333H;ENSP00000320130:R350H;ENSP00000438377:R313H;ENSP00000398118:R330H;ENSP00000352348:R313H;ENSP00000412444:R333H	ENSP00000320130:R350H	R	+	2	0	DYNC1I1	95495451	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.128000	0.50492	2.788000	0.95919	0.585000	0.79938	CGT		0.512	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
DYNC1I1	1780	broad.mit.edu	37	7	95657632	95657632	+	Splice_Site	SNP	C	C	T	rs546629907		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95657632C>T	ENST00000324972.6	+	11	1359	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	DYNC1I1_ENST00000359388.4_Splice_Site_p.T352M|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372M|DYNC1I1_ENST00000447467.2_Splice_Site_p.T372M|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352M|DYNC1I1_ENST00000437599.1_Splice_Site_p.T369M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	389					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.0		0.0	False		,,,				2504	0.001				p.T389M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1166T	7						.						107.0	90.0	95.0					7																	95657632		2203	4300	6503	95495568	SO:0001630	splice_region_variant	1780	exon11			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1167+1C>T	7.37:g.95657632C>T			95495568	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901329	0.52227	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.03	4.15	0.48705	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.996;0.95	D	0.91817	0.5464	10	0.87932	D	0	-7.5132	15.3555	0.74423	0.1406:0.8594:0.0:0.0	.	372;369;372;389;352	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	372;389;352;369;352;372	ENSP00000392337:T372M;ENSP00000320130:T389M;ENSP00000438377:T352M;ENSP00000398118:T369M;ENSP00000352348:T352M;ENSP00000412444:T372M	ENSP00000320130:T389M	T	+	2	0	DYNC1I1	95495568	1.000000	0.71417	0.888000	0.34837	0.005000	0.04900	7.651000	0.83577	1.484000	0.48361	-0.175000	0.13238	ACG		0.493	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Missense_Mutation
SLC25A13	10165	broad.mit.edu	37	7	95799394	95799394	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95799394G>A	ENST00000265631.5	-	13	1410	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	SLC25A13_ENST00000416240.2_Missense_Mutation_p.S426L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.S317L			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	425					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.S425L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAGTGGGACCGAACCATCTTT	0.353																																					p.S425L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1274T	7						.						115.0	118.0	117.0					7																	95799394		2203	4300	6503	95637330	SO:0001583	missense	10165	exon13			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1274C>T	7.37:g.95799394G>A	ENSP00000265631:p.Ser425Leu		95637330	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864638	0.51482	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.77750	-1.12;-1.12;-1.12	4.92	4.92	0.64577	Mitochondrial carrier domain (2);	0.967373	0.08499	N	0.936803	T	0.72277	0.3440	L	0.38175	1.15	0.49798	D	0.999823	P;P;P	0.39131	0.456;0.661;0.661	B;B;B	0.33568	0.103;0.166;0.166	T	0.69228	-0.5200	10	0.41790	T	0.15	-10.7135	18.6919	0.91586	0.0:0.0:1.0:0.0	.	317;426;425	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	L	425;426;317	ENSP00000265631:S425L;ENSP00000400101:S426L;ENSP00000440484:S317L	ENSP00000265631:S425L	S	-	2	0	SLC25A13	95637330	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	6.307000	0.72815	2.729000	0.93468	0.467000	0.42956	TCG		0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
SLC25A13	10165	broad.mit.edu	37	7	95820524	95820524	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:95820524G>T	ENST00000265631.5	-	7	787	c.651C>A	c.(649-651)ttC>ttA	p.F217L	SLC25A13_ENST00000416240.2_Missense_Mutation_p.F217L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.F109L			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	217					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.F217L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TAAAATAGGAGAAACTAACTT	0.353																																					p.F217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C651A	7						.						112.0	111.0	111.0					7																	95820524		2203	4300	6503	95658460	SO:0001583	missense	10165	exon7			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.651C>A	7.37:g.95820524G>T	ENSP00000265631:p.Phe217Leu		95658460	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783155	0.70222	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.81579	-1.51;-1.51;-1.51	5.18	5.18	0.71444	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.87269	2.87	0.80722	D	1	D;P;P	0.55172	0.97;0.949;0.949	P;P;P	0.55577	0.779;0.607;0.607	D	0.86203	0.1620	10	0.49607	T	0.09	-14.4697	6.4815	0.22065	0.207:0.0:0.793:0.0	.	109;217;217	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	L	217;217;109	ENSP00000265631:F217L;ENSP00000400101:F217L;ENSP00000440484:F109L	ENSP00000265631:F217L	F	-	3	2	SLC25A13	95658460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.669000	0.54561	2.868000	0.98415	0.557000	0.71058	TTC		0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
DLX5	1749	broad.mit.edu	37	7	96650234	96650234	+	Silent	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:96650234G>C	ENST00000222598.4	-	3	1157	c.684C>G	c.(682-684)ggC>ggG	p.G228G	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	228					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.G228G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGCGGGACGAGCCCTGGGGCT	0.642																																					p.G228G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C684G	7						.						70.0	62.0	65.0					7																	96650234		2203	4300	6503	96488170	SO:0001819	synonymous_variant	1749	exon3				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.684C>G	7.37:g.96650234G>C			96488170	NM_005221	B7Z4P3|Q9UPL1	Silent	SNP	ENST00000222598.4	37	CCDS5647.1																																																																																				0.642	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
DLX5	1749	broad.mit.edu	37	7	96651537	96651537	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:96651537C>T	ENST00000222598.4	-	2	973	c.500G>A	c.(499-501)cGc>cAc	p.R167H	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.R167H	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	167					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)	p.R167H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGCTCGGCGCGTTCCGGCAA	0.557																																					p.R167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	7						.						99.0	100.0	99.0					7																	96651537		2203	4300	6503	96489473	SO:0001583	missense	1749	exon2				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.500G>A	7.37:g.96651537C>T	ENSP00000222598:p.Arg167His		96489473	NM_005221	B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580266	0.96565	.	.	ENSG00000105880	ENST00000222598	D	0.97529	-4.42	5.41	5.41	0.78517	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99047	1.0826	10	0.87932	D	0	-13.4354	18.9868	0.92773	0.0:1.0:0.0:0.0	.	167;167	B7Z4P3;P56178	.;DLX5_HUMAN	H	167	ENSP00000222598:R167H	ENSP00000222598:R167H	R	-	2	0	DLX5	96489473	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.582000	0.82546	2.816000	0.96949	0.563000	0.77884	CGC		0.557	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2		
LMTK2	22853	broad.mit.edu	37	7	97800937	97800937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:97800937G>A	ENST00000297293.5	+	7	1035	c.742G>A	c.(742-744)Gag>Aag	p.E248K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.E248K(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GATGGCGTGCGAGGTCGCCGC	0.667																																					p.E248K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G742A	7						.						42.0	41.0	41.0					7																	97800937		2203	4300	6503	97638873	SO:0001583	missense	22853	exon7			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.742G>A	7.37:g.97800937G>A	ENSP00000297293:p.Glu248Lys		97638873	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896283	0.72639	.	.	ENSG00000164715	ENST00000297293	T	0.63744	-0.06	5.1	5.1	0.69264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048675	0.85682	D	0.000000	T	0.76898	0.4052	M	0.75615	2.305	0.46927	D	0.999258	D	0.76494	0.999	D	0.74348	0.983	T	0.79329	-0.1848	10	0.87932	D	0	.	12.1567	0.54081	0.0:0.1726:0.8274:0.0	.	248	Q8IWU2	LMTK2_HUMAN	K	248	ENSP00000297293:E248K	ENSP00000297293:E248K	E	+	1	0	LMTK2	97638873	1.000000	0.71417	0.959000	0.39883	0.406000	0.30931	4.079000	0.57613	2.542000	0.85734	0.655000	0.94253	GAG		0.667	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
LMTK2	22853	broad.mit.edu	37	7	97823561	97823561	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:97823561G>A	ENST00000297293.5	+	11	4077	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1262					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.E1262K(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCGGACATCGAAGGGAAGTA	0.597																																					p.E1262K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3784A	7						.						76.0	76.0	76.0					7																	97823561		2203	4300	6503	97661497	SO:0001583	missense	22853	exon11			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3784G>A	7.37:g.97823561G>A	ENSP00000297293:p.Glu1262Lys		97661497	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779854	0.90195	.	.	ENSG00000164715	ENST00000297293	D	0.85484	-1.99	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92596	0.7648	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92342	0.5882	10	0.72032	D	0.01	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1262	Q8IWU2	LMTK2_HUMAN	K	1262	ENSP00000297293:E1262K	ENSP00000297293:E1262K	E	+	1	0	LMTK2	97661497	1.000000	0.71417	0.767000	0.31495	0.269000	0.26545	9.414000	0.97362	2.894000	0.99253	0.655000	0.94253	GAA		0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
BAIAP2L1	55971	broad.mit.edu	37	7	97949421	97949421	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:97949421C>T	ENST00000005260.8	-	5	512	c.297G>A	c.(295-297)gaG>gaA	p.E99E	BAIAP2L1_ENST00000462558.1_5'UTR|RP11-307C18.1_ENST00000610062.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	99	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.E99E(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CATGGATAATCTCTTTGTGGA	0.373																																					p.E99E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G297A	7						.						116.0	109.0	111.0					7																	97949421		2203	4300	6503	97787357	SO:0001819	synonymous_variant	55971	exon5			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.297G>A	7.37:g.97949421C>T			97787357	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	CCDS34687.1																																																																																				0.373	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
TMEM130	222865	broad.mit.edu	37	7	98453722	98453722	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98453722C>T	ENST00000416379.2	-	4	640	c.636G>A	c.(634-636)gcG>gcA	p.A212A	TMEM130_ENST00000450876.1_Silent_p.A128A|TMEM130_ENST00000345589.4_Silent_p.A110A|TMEM130_ENST00000546258.1_Silent_p.A193A|TMEM130_ENST00000339375.4_Silent_p.A212A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	212	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A212A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCCCACTCCGCCACCACTT	0.587																																					p.A110A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G330A	7						.						88.0	80.0	83.0					7																	98453722		2203	4300	6503	98291658	SO:0001819	synonymous_variant	222865	exon3				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.636G>A	7.37:g.98453722C>T			98291658	NM_001134451	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	CCDS47650.1																																																																																				0.587	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	
TRRAP	8295	broad.mit.edu	37	7	98548513	98548513	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98548513C>A	ENST00000359863.4	+	38	5537	c.5328C>A	c.(5326-5328)atC>atA	p.I1776I	TRRAP_ENST00000446306.3_Silent_p.I1757I|TRRAP_ENST00000355540.3_Silent_p.I1758I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1776					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.I1758I(1)|p.I1776I(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAGCATATCTTGAATCCTG	0.433																																					p.I1758I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5274A	7						.						159.0	169.0	166.0					7																	98548513		2203	4300	6503	98386449	SO:0001819	synonymous_variant	8295	exon37			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5328C>A	7.37:g.98548513C>A			98386449	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.088977	0.07097	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.6	1.6	0.23607	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44329	-0.9335	4	.	.	.	.	7.0407	0.25019	0.1193:0.614:0.0:0.2667	.	.	.	.	Y	1498	.	.	S	+	2	0	TRRAP	98386449	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	1.742000	0.38248	0.283000	0.22279	-1.538000	0.00913	TCT		0.433	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	broad.mit.edu	37	7	98575945	98575945	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98575945C>T	ENST00000359863.4	+	56	8685	c.8476C>T	c.(8476-8478)Cga>Tga	p.R2826*	TRRAP_ENST00000446306.3_Splice_Site_p.R2808*|TRRAP_ENST00000355540.3_Splice_Site_p.R2808*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2826	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R2808*(1)|p.R2826*(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACTGGATTCGGTAAGCCAA	0.433																																					p.R2808X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C8422T	7						.						95.0	84.0	88.0					7																	98575945		2203	4300	6503	98413881	SO:0001630	splice_region_variant	8295	exon55			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8477+1C>T	7.37:g.98575945C>T			98413881	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	50	17.289499	0.99883	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	.	.	.	6.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3176	0.74092	0.2464:0.7536:0.0:0.0	.	.	.	.	X	2826;2808;2807	.	ENSP00000347733:R2808X	R	+	1	2	TRRAP	98413881	1.000000	0.71417	0.925000	0.36789	0.942000	0.58702	4.957000	0.63652	0.812000	0.34326	0.655000	0.94253	CGA		0.433	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Nonsense_Mutation
TRRAP	8295	broad.mit.edu	37	7	98576486	98576486	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98576486C>T	ENST00000359863.4	+	57	8781	c.8572C>T	c.(8572-8574)Cgg>Tgg	p.R2858W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R2840W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2840W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2858	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R2858W(1)|p.R2840W(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGCGCCTGGCGGGTGTCCAA	0.622																																					p.R2840W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8518T	7						.						65.0	68.0	67.0					7																	98576486		2203	4300	6503	98414422	SO:0001583	missense	8295	exon56			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8572C>T	7.37:g.98576486C>T	ENSP00000352925:p.Arg2858Trp		98414422	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611893	0.87258	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.72835	-0.69;-0.69	6.03	1.55	0.23275	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.89389	0.3687	10	0.87932	D	0	.	15.723	0.77728	0.6104:0.3896:0.0:0.0	.	2840;2579;2858	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	2858;2840;2839	ENSP00000352925:R2858W;ENSP00000347733:R2840W	ENSP00000347733:R2840W	R	+	1	2	TRRAP	98414422	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.247000	0.51422	0.360000	0.24265	0.655000	0.94253	CGG		0.622	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
SMURF1	57154	broad.mit.edu	37	7	98643392	98643392	+	Silent	SNP	C	C	T	rs142287239		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98643392C>T	ENST00000361125.1	-	12	1582	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000361368.2_Silent_p.P395P	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	421	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.P421P(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCAAGTCTTTCGGTCGCATCT	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17246	0.0		0.0	False		,,,				2504	0.0				p.P421P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1263A	7						.	C	,,	2,4404	4.2+/-10.8	0,2,2201	142.0	124.0	130.0		1185,1263,1185	-6.9	0.1	7	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	395/729,421/758,395/732	98643392	2,13004	2203	4300	6503	98481328	SO:0001819	synonymous_variant	57154	exon12			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1263G>A	7.37:g.98643392C>T			98481328	NM_020429	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	CCDS34690.1																																																																																				0.438	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	
SMURF1	57154	broad.mit.edu	37	7	98647331	98647331	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:98647331C>A	ENST00000361125.1	-	10	1205	c.886G>T	c.(886-888)Gac>Tac	p.D296Y	AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000482799.2_RNA|SMURF1_ENST00000480055.1_5'Flank|SMURF1_ENST00000361368.2_Splice_Site_p.D270Y	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	296					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.D296Y(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CTGTTAAGGTCTCTACCAAAA	0.438																																					p.D296Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886T	7						.						84.0	77.0	79.0					7																	98647331		2203	4300	6503	98485267	SO:0001630	splice_region_variant	57154	exon10			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.885-1G>T	7.37:g.98647331C>A			98485267	NM_020429	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906815	0.92107	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.48201	1.11;0.82	5.46	5.46	0.80206	.	0.527164	0.15948	N	0.236863	T	0.52805	0.1757	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77557	0.987;0.99;0.973	T	0.63765	-0.6563	10	0.66056	D	0.02	.	19.321	0.94240	0.0:1.0:0.0:0.0	.	270;296;270	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Y	270;296	ENSP00000355326:D270Y;ENSP00000354621:D296Y	ENSP00000354621:D296Y	D	-	1	0	SMURF1	98485267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.557000	0.86248	0.563000	0.77884	GAC		0.438	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429	Missense_Mutation
ZNF655	79027	broad.mit.edu	37	7	99171198	99171198	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99171198G>T	ENST00000394163.2	+	3	1650	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.E524D|ZNF655_ENST00000493277.1_Missense_Mutation_p.E524D|ZNF655_ENST00000252713.4_Missense_Mutation_p.E489D|ZNF655_ENST00000419215.2_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	489					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E489D(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATACCAAAGAGAACTCATGAA	0.398																																					p.E524D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1572T	7						.						75.0	75.0	75.0					7																	99171198		2203	4300	6503	99009134	SO:0001583	missense	79027	exon4			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1467G>T	7.37:g.99171198G>T	ENSP00000377718:p.Glu489Asp		99009134	NM_001083956	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210167	0.58343	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.06371	3.38;3.31;3.31;3.38	4.69	3.81	0.43845	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000588	T	0.12220	0.0297	L	0.58669	1.825	0.80722	D	1	D;P	0.53619	0.961;0.935	P;P	0.49597	0.616;0.575	T	0.01416	-1.1360	10	0.72032	D	0.01	-5.1093	11.2745	0.49159	0.092:0.0:0.908:0.0	.	524;489	Q8N720-3;Q8N720	.;ZN655_HUMAN	D	489;524;524;489	ENSP00000252713:E489D;ENSP00000419135:E524D;ENSP00000393876:E524D;ENSP00000377718:E489D	ENSP00000252713:E489D	E	+	3	2	ZNF655	99009134	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.965000	0.40471	1.296000	0.44742	0.655000	0.94253	GAG		0.398	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494	
ZSCAN25	221785	broad.mit.edu	37	7	99227017	99227017	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99227017G>A	ENST00000394152.2	+	8	1336	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E265K|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E337K	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	337					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.E337K(1)									CCTGCCTGACGAAGTCAAAAC	0.632																																					p.E337K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	7						.						56.0	49.0	51.0					7																	99227017		2203	4300	6503	99064953	SO:0001583	missense	221785	exon8			AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1009G>A	7.37:g.99227017G>A	ENSP00000377708:p.Glu337Lys		99064953	NM_145115	A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	0.355	-0.942440	0.02322	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08370	3.14;3.14;3.1	3.89	2.98	0.34508	.	0.610047	0.14670	N	0.305382	T	0.04272	0.0118	N	0.11756	0.17	0.19575	N	0.999963	B;B	0.25743	0.133;0.082	B;B	0.19666	0.026;0.012	T	0.41378	-0.9512	10	0.09338	T	0.73	-13.4289	10.2562	0.43399	0.1013:0.0:0.8987:0.0	.	265;337	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	337;337;265	ENSP00000377708:E337K;ENSP00000334800:E337K;ENSP00000262941:E265K	ENSP00000262941:E265K	E	+	1	0	ZNF498	99064953	0.002000	0.14202	0.453000	0.27007	0.191000	0.23601	0.992000	0.29667	1.178000	0.42870	0.561000	0.74099	GAA		0.632	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115	
CYP3A7	1551	broad.mit.edu	37	7	99319924	99319924	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99319924G>T	ENST00000336374.2	-	3	215	c.213C>A	c.(211-213)gtC>gtA	p.V71V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	71			V -> A (in dbSNP:rs45580339).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.V71V(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CTCACCCCCAGACTTTTCTAT	0.393																																					p.V71V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213A	7						.						85.0	83.0	83.0					7																	99319924		2203	4300	6503	99157860	SO:0001819	synonymous_variant	1551	exon3			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.213C>A	7.37:g.99319924G>T			99157860	NM_000765	A4D288|Q9H241	Silent	SNP	ENST00000336374.2	37	CCDS5673.1																																																																																				0.393	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
CYP3A7	1551	broad.mit.edu	37	7	99328750	99328750	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99328750A>C	ENST00000336374.2	-	2	99	c.97T>G	c.(97-99)Ttt>Gtt	p.F33V		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	33					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.F33V(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGCTTCTTAAAAAGTCCATGT	0.433																																					p.F33V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T97G	7						.						100.0	94.0	96.0					7																	99328750		2203	4300	6503	99166686	SO:0001583	missense	1551	exon2			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.97T>G	7.37:g.99328750A>C	ENSP00000337450:p.Phe33Val		99166686	NM_000765	A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690692	0.29962	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.22539	1.95	3.52	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.61703	1.905	0.40848	D	0.98372	D	0.63880	0.993	D	0.68765	0.96	T	0.11155	-1.0599	10	0.87932	D	0	.	5.4933	0.16789	0.8663:0.0:0.1337:0.0	.	33	P24462	CP3A7_HUMAN	V	33	ENSP00000337450:F33V	ENSP00000292414:F33V	F	-	1	0	CYP3A7	99166686	0.993000	0.37304	0.538000	0.28064	0.087000	0.18053	3.461000	0.53035	0.536000	0.28733	0.418000	0.28097	TTT		0.433	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1		
CYP3A43	64816	broad.mit.edu	37	7	99447172	99447172	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99447172C>A	ENST00000354829.2	+	7	628	c.525C>A	c.(523-525)ttC>ttA	p.F175L	CYP3A43_ENST00000342499.4_Missense_Mutation_p.L38I|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F175L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F175L|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	175			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.F175L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TACTCAGTTTCTTTGGGGCCT	0.408																																					p.F175L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C525A	7						.						181.0	158.0	166.0					7																	99447172		2203	4300	6503	99285108	SO:0001583	missense	64816	exon7			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.525C>A	7.37:g.99447172C>A	ENSP00000346887:p.Phe175Leu		99285108	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.123|9.123	1.009380|1.009380	0.19277|0.19277	.|.	.|.	ENSG00000021461|ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382|ENST00000342499;ENST00000379654	T;T;T|T	0.65732|0.78126	-0.17;-0.17;-0.17|-1.15	2.98|2.98	-0.341|-0.341	0.12639|0.12639	.|.	0.934586|.	0.08847|.	U|.	0.884971|.	T|T	0.50188|0.50188	0.1601|0.1601	N|N	0.11673|0.11673	0.155|0.155	0.09310|0.09310	N|N	1|1	B;B;B|B	0.10296|0.28713	0.003;0.001;0.001|0.22	B;B;B|B	0.11329|0.22880	0.003;0.006;0.006|0.042	T|T	0.31475|0.31475	-0.9942|-0.9942	10|9	0.20046|0.20519	T|T	0.44|0.43	.|.	2.3026|2.3026	0.04166|0.04166	0.1758:0.3573:0.3467:0.1202|0.1758:0.3573:0.3467:0.1202	.|.	175;175;175|38	Q9HB55-3;Q75MK2;Q9HB55|F8W6L8	.;.;CP343_HUMAN|.	L|I	175|38;69	ENSP00000346887:F175L;ENSP00000312110:F175L;ENSP00000222382:F175L|ENSP00000345351:L38I	ENSP00000222382:F175L|ENSP00000345351:L38I	F|L	+|+	3|1	2|0	CYP3A43|CYP3A43	99285108|99285108	0.000000|0.000000	0.05858|0.05858	0.110000|0.110000	0.21437|0.21437	0.552000|0.552000	0.35366|0.35366	-2.050000|-2.050000	0.01404|0.01404	-0.246000|-0.246000	0.09611|0.09611	0.205000|0.205000	0.17691|0.17691	TTC|CTT		0.408	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
CYP3A43	64816	broad.mit.edu	37	7	99459347	99459347	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99459347G>T	ENST00000354829.2	+	11	1241	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	CYP3A43_ENST00000342499.4_Missense_Mutation_p.D240Y|CYP3A43_ENST00000444905.1_Missense_Mutation_p.D127Y|CYP3A43_ENST00000415413.1_Missense_Mutation_p.D169Y|CYP3A43_ENST00000417625.1_Missense_Mutation_p.D270Y|CYP3A43_ENST00000222382.5_Missense_Mutation_p.D380Y|CYP3A43_ENST00000312017.5_Missense_Mutation_p.D380Y|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	380			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.D380Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTGCAAGAAAGATATTGAAAT	0.443																																					p.D380Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1138T	7						.						129.0	114.0	119.0					7																	99459347		2203	4300	6503	99297283	SO:0001583	missense	64816	exon11			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.1138G>T	7.37:g.99459347G>T	ENSP00000346887:p.Asp380Tyr		99297283	NM_057096	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342422	0.24339	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.1;-1.11;-1.11	2.71	2.71	0.32032	.	0.682067	0.13722	N	0.367283	D	0.90631	0.7062	H	0.98256	4.185	0.47621	D	0.999477	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.998	D;D;D;D;D	0.75484	0.965;0.986;0.968;0.98;0.949	D	0.89429	0.3715	10	0.87932	D	0	.	5.6216	0.17459	0.1528:0.0:0.8472:0.0	.	270;240;380;380;380	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	Y	380;270;240;127;169;380;380	ENSP00000346887:D380Y;ENSP00000416581:D270Y;ENSP00000345351:D240Y;ENSP00000405557:D127Y;ENSP00000401521:D169Y;ENSP00000312110:D380Y;ENSP00000222382:D380Y	ENSP00000222382:D380Y	D	+	1	0	CYP3A43	99297283	0.073000	0.21202	0.998000	0.56505	0.046000	0.14306	1.210000	0.32370	1.821000	0.53095	0.404000	0.27445	GAT		0.443	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1		
OR2AE1	81392	broad.mit.edu	37	7	99473800	99473800	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99473800G>T	ENST00000316368.2	-	1	880	c.857C>A	c.(856-858)tCt>tAt	p.S286Y		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S286Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATAAATCAGAGAATTCAATGT	0.458																																					p.S286Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857A	7						.						112.0	116.0	115.0					7																	99473800		2203	4300	6503	99311736	SO:0001583	missense	81392	exon1			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.857C>A	7.37:g.99473800G>T	ENSP00000313936:p.Ser286Tyr		99311736	NM_001005276	B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267677	0.23136	.	.	ENSG00000244623	ENST00000316368	T	0.37752	1.18	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.201466	0.24843	N	0.035141	T	0.20577	0.0495	N	0.08118	0	0.23232	N	0.998078	B	0.17465	0.022	B	0.08055	0.003	T	0.28839	-1.0031	10	0.87932	D	0	.	13.4395	0.61104	0.0:0.0:1.0:0.0	.	286	Q8NHA4	O2AE1_HUMAN	Y	286	ENSP00000313936:S286Y	ENSP00000313936:S286Y	S	-	2	0	OR2AE1	99311736	1.000000	0.71417	0.203000	0.23512	0.174000	0.22865	6.648000	0.74359	2.285000	0.76669	0.385000	0.25706	TCT		0.458	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1		
TRIM4	89122	broad.mit.edu	37	7	99506410	99506410	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99506410C>A	ENST00000355947.2	-	4	722	c.593G>T	c.(592-594)aGa>aTa	p.R198I	TRIM4_ENST00000354241.5_Missense_Mutation_p.R172I|TRIM4_ENST00000349062.2_Missense_Mutation_p.R172I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	198					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R198I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CGTGCTGATTCTCATTCGCTG	0.433																																					p.R198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593T	7						.						131.0	121.0	124.0					7																	99506410		2203	4300	6503	99344346	SO:0001583	missense	89122	exon4			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.593G>T	7.37:g.99506410C>A	ENSP00000348216:p.Arg198Ile		99344346	NM_033017	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	CCDS5679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.431779|2.431779	0.43122|0.43122	.|.	.|.	ENSG00000146833|ENSG00000146833	ENST00000447480|ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	.|T;T;T	.|0.03441	.|3.93;3.93;3.93	2.68|2.68	-0.426|-0.426	0.12314|0.12314	.|.	.|.	.|.	.|.	.|.	T|T	0.09774|0.09774	0.0240|0.0240	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.69078	.|0.982;0.997;0.995	.|P;D;D	.|0.78314	.|0.838;0.991;0.979	T|T	0.27088|0.27088	-1.0084|-1.0084	5|9	.|0.39692	.|T	.|0.17	.|.	1.1148|1.1148	0.01712|0.01712	0.2333:0.3941:0.2285:0.144|0.2333:0.3941:0.2285:0.144	.|.	.|172;172;198	.|Q9C037-3;Q9C037-2;Q9C037	.|.;.;TRIM4_HUMAN	D|I	73|198;172;28;172	.|ENSP00000348216:R198I;ENSP00000275736:R172I;ENSP00000346186:R172I	.|ENSP00000275736:R172I	E|R	-|-	3|2	2|0	TRIM4|TRIM4	99344346|99344346	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.814000|0.814000	0.46013|0.46013	0.028000|0.028000	0.13644|0.13644	-0.092000|-0.092000	0.12417|0.12417	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.433	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017	
AZGP1	563	broad.mit.edu	37	7	99565994	99565994	+	Missense_Mutation	SNP	C	C	G	rs372477471		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99565994C>G	ENST00000292401.4	-	3	533	c.397G>C	c.(397-399)Gca>Cca	p.A133P	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Missense_Mutation_p.A130P	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	133					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.A133P(1)|p.A133T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTCCAGAATGCTCCGCTGCTT	0.498																																					p.A133P												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G397C	7						.						210.0	226.0	221.0					7																	99565994		2203	4300	6503	99403930	SO:0001583	missense	563	exon3			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.397G>C	7.37:g.99565994C>G	ENSP00000292401:p.Ala133Pro		99403930	NM_001185	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.764929	0.15914	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	T;T	0.00784	5.7;5.7	2.76	-0.41	0.12374	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.626440	0.12130	U	0.496886	T	0.02119	0.0066	M	0.85197	2.74	0.09310	N	1	P	0.36199	0.543	P	0.44623	0.455	T	0.22730	-1.0208	10	0.87932	D	0	.	5.9834	0.19419	0.1539:0.6314:0.0:0.2147	.	133	P25311	ZA2G_HUMAN	P	133;130	ENSP00000292401:A133P;ENSP00000396093:A130P	ENSP00000292401:A133P	A	-	1	0	AZGP1	99403930	0.500000	0.26091	0.006000	0.13384	0.011000	0.07611	2.734000	0.47368	-0.717000	0.04955	-2.281000	0.00270	GCA		0.498	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
ZSCAN21	7589	broad.mit.edu	37	7	99661644	99661644	+	Missense_Mutation	SNP	C	C	T	rs201249540		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99661644C>T	ENST00000292450.4	+	4	990	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	276					positive regulation of transcription, DNA-templated (GO:0045893)|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.R276C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGAGAGAGACGTTATATATG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		21946	0.0		0.001	False		,,,				2504	0.0				p.R276C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	7						.	C	CYS/ARG	0,4406		0,0,2203	77.0	74.0	75.0		826	3.7	1.0	7		75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZSCAN21	NM_145914.2	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	276/474	99661644	2,13004	2203	4300	6503	99499580	SO:0001583	missense	7589	exon4			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.826C>T	7.37:g.99661644C>T	ENSP00000292450:p.Arg276Cys		99499580	NM_145914	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436633	0.62955	0.0	2.33E-4	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.01043	5.41	4.61	3.67	0.42095	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000680	T	0.02083	0.0065	L	0.49778	1.585	0.80722	D	1	D	0.69078	0.997	P	0.47299	0.543	T	0.65882	-0.6060	10	0.44086	T	0.13	.	12.6978	0.57014	0.0:0.8324:0.1676:0.0	.	276	Q9Y5A6	ZSC21_HUMAN	C	276;251	ENSP00000292450:R276C	ENSP00000292450:R276C	R	+	1	0	ZSCAN21	99499580	0.026000	0.19158	1.000000	0.80357	0.959000	0.62525	2.212000	0.42835	2.571000	0.86741	0.655000	0.94253	CGT		0.438	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914	
ZNF3	7551	broad.mit.edu	37	7	99669833	99669833	+	Missense_Mutation	SNP	G	G	A	rs573869420		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99669833G>A	ENST00000424697.1	-	6	580	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.R92C|ZNF3_ENST00000299667.4_Missense_Mutation_p.R92C	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.R92C(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTGGTCTCACGATCTGACACA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		21934	0.001		0.0	False		,,,				2504	0.0				p.R92C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C274T	7						.																																			99507769	SO:0001583	missense	7551	exon6			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.274C>T	7.37:g.99669833G>A	ENSP00000415358:p.Arg92Cys		99507769	NM_032924	D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274018	0.23221	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068	T;T;T;T;T;T;T;T	0.00776	5.71;5.71;5.71;5.71;5.71;5.71;5.71;5.71	5.16	4.27	0.50696	Krueppel-associated box (3);	0.243063	0.29355	N	0.012389	T	0.00440	0.0014	N	0.02111	-0.68	0.32639	N	0.520906	P;P	0.51537	0.946;0.83	B;B	0.37422	0.249;0.092	T	0.67409	-0.5678	10	0.37606	T	0.19	-13.0518	12.1402	0.53994	0.0:0.6607:0.3392:0.0	.	75;92	B3KRP4;P17036	.;ZNF3_HUMAN	C	92;92;92;56;92;92;56;92	ENSP00000415358:R92C;ENSP00000306372:R92C;ENSP00000299667:R92C;ENSP00000416088:R56C;ENSP00000405970:R92C;ENSP00000388042:R92C;ENSP00000394113:R56C;ENSP00000416686:R92C	ENSP00000299667:R92C	R	-	1	0	ZNF3	99507769	0.001000	0.12720	1.000000	0.80357	0.857000	0.48899	-0.174000	0.09839	1.407000	0.46875	-0.540000	0.04249	CGT		0.388	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
MCM7	4176	broad.mit.edu	37	7	99690684	99690684	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99690684G>T	ENST00000303887.5	-	15	2676	c.2031C>A	c.(2029-2031)ttC>ttA	p.F677L	MIR93_ENST00000385024.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.F501L|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000343023.6_Missense_Mutation_p.F347L|MIR25_ENST00000384816.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	677	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.F501L(1)|p.F677L(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCCTCAGAGAACCGGACAC	0.557																																					p.F501L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1503A	7						.						73.0	66.0	68.0					7																	99690684		2203	4300	6503	99528620	SO:0001583	missense	4176	exon14				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2031C>A	7.37:g.99690684G>T	ENSP00000307288:p.Phe677Leu		99528620	NM_182776	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	3.070	-0.191323	0.06299	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T;T	0.59906	3.16;0.23;0.23	5.98	-2.12	0.07165	.	0.213700	0.46442	D	0.000292	T	0.23210	0.0561	N	0.02539	-0.55	0.33681	D	0.612152	B	0.02656	0.0	B	0.01281	0.0	T	0.45220	-0.9276	10	0.02654	T	1	-18.7491	12.6668	0.56846	0.3839:0.0:0.6161:0.0	.	677	P33993	MCM7_HUMAN	L	347;677;614;570;501	ENSP00000344006:F347L;ENSP00000307288:F677L;ENSP00000346171:F501L	ENSP00000307288:F677L	F	-	3	2	MCM7	99528620	0.992000	0.36948	0.932000	0.37286	0.544000	0.35116	0.550000	0.23345	-0.357000	0.08175	-0.218000	0.12543	TTC		0.557	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
MCM7	4176	broad.mit.edu	37	7	99695355	99695355	+	Silent	SNP	G	G	A	rs146340949	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99695355G>A	ENST00000303887.5	-	9	1644	c.999C>T	c.(997-999)taC>taT	p.Y333Y	MCM7_ENST00000354230.3_Silent_p.Y157Y|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	333	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.Y333Y(1)|p.Y157Y(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGCTTTTCGTAGAAATCCT	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		20510	0.002		0.0	False		,,,				2504	0.0				p.Y157Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C471T	7						.						171.0	170.0	170.0					7																	99695355		2203	4300	6503	99533291	SO:0001819	synonymous_variant	4176	exon8				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.999C>T	7.37:g.99695355G>A			99533291	NM_182776	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	CCDS5683.1																																																																																				0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
STAG3	10734	broad.mit.edu	37	7	99796515	99796515	+	Missense_Mutation	SNP	C	C	T	rs539912996		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99796515C>T	ENST00000426455.1	+	14	1809	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	STAG3_ENST00000317296.5_Missense_Mutation_p.R468C|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R410C	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	468					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R468C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAGAGCAACGCCAGAGCCC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		16772	0.0		0.001	False		,,,				2504	0.0				p.R468C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1402T	7						.						114.0	114.0	114.0					7																	99796515		2203	4300	6503	99634451	SO:0001583	missense	10734	exon14			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1402C>T	7.37:g.99796515C>T	ENSP00000400359:p.Arg468Cys		99634451	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818867	0.32145	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.25749	1.78;1.8;1.78	5.75	4.87	0.63330	Armadillo-type fold (1);	1.147120	0.06612	N	0.755773	T	0.37598	0.1009	M	0.67397	2.05	0.09310	N	0.999999	D;B	0.65815	0.995;0.1	P;B	0.48677	0.586;0.042	T	0.24870	-1.0148	10	0.87932	D	0	-0.7305	7.782	0.29070	0.1609:0.7572:0.0:0.0819	.	410;468	B4DZ10;Q9UJ98	.;STAG3_HUMAN	C	468;410;426;468	ENSP00000400359:R468C;ENSP00000377586:R410C;ENSP00000319318:R468C	ENSP00000319318:R468C	R	+	1	0	STAG3	99634451	0.441000	0.25626	0.508000	0.27688	0.212000	0.24457	2.315000	0.43752	1.572000	0.49736	0.650000	0.86243	CGC		0.537	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
STAG3	10734	broad.mit.edu	37	7	99797196	99797196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99797196G>T	ENST00000426455.1	+	16	2013	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	STAG3_ENST00000317296.5_Nonsense_Mutation_p.E536*|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Nonsense_Mutation_p.E478*	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	536					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E536*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACACTGATAGAAATCCTTGT	0.567																																					p.E536X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1606T	7						.						27.0	29.0	28.0					7																	99797196		2203	4300	6503	99635132	SO:0001587	stop_gained	10734	exon16			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1606G>T	7.37:g.99797196G>T	ENSP00000400359:p.Glu536*		99635132	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Nonsense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	42	9.212975	0.99103	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	.	.	.	6.16	5.28	0.74379	.	0.000000	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9121	14.7787	0.69749	0.0:0.0:0.8547:0.1453	.	.	.	.	X	536;478;494;536	.	ENSP00000319318:E536X	E	+	1	0	STAG3	99635132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.168000	0.71908	1.606000	0.50161	0.650000	0.86243	GAA		0.567	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
STAG3	10734	broad.mit.edu	37	7	99801705	99801705	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99801705G>A	ENST00000426455.1	+	26	3169	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.R921Q|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R863Q	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	921					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R921Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGATTGACCGAAGTCATTGT	0.507																																					p.R921Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2762A	7						.						166.0	135.0	145.0					7																	99801705		2203	4300	6503	99639641	SO:0001583	missense	10734	exon26			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2762G>A	7.37:g.99801705G>A	ENSP00000400359:p.Arg921Gln		99639641	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	18.41	3.618467	0.66787	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.22743	1.94;1.94;1.94	5.71	4.83	0.62350	.	0.174834	0.26944	N	0.021716	T	0.26159	0.0638	L	0.46614	1.455	0.80722	D	1	B;D;P	0.63046	0.243;0.992;0.676	B;P;B	0.50570	0.09;0.644;0.139	T	0.02238	-1.1190	10	0.87932	D	0	-7.404	8.9533	0.35803	0.167:0.0:0.833:0.0	.	863;921;921	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	Q	921;863;921	ENSP00000400359:R921Q;ENSP00000377586:R863Q;ENSP00000319318:R921Q	ENSP00000319318:R921Q	R	+	2	0	STAG3	99639641	0.992000	0.36948	0.884000	0.34674	0.911000	0.54048	2.625000	0.46452	1.428000	0.47296	0.655000	0.94253	CGA		0.507	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
STAG3	10734	broad.mit.edu	37	7	99809443	99809443	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99809443G>A	ENST00000426455.1	+	32	3948	c.3541G>A	c.(3541-3543)Gaa>Aaa	p.E1181K	GATS_ENST00000436886.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E1181K|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.E1123K	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1181	Poly-Glu.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E1181K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAGGACGAGGAAGAAGAGTT	0.502																																					p.E1181K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3541A	7						.						118.0	103.0	108.0					7																	99809443		2203	4300	6503	99647379	SO:0001583	missense	10734	exon32			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.3541G>A	7.37:g.99809443G>A	ENSP00000400359:p.Glu1181Lys		99647379	NM_012447	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045524	0.36085	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000379577;ENST00000317296;ENST00000412190	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.14	4.14	0.48551	.	0.384248	0.18924	N	0.127416	T	0.31071	0.0785	M	0.63843	1.955	0.80722	D	1	P;B;P	0.34522	0.455;0.319;0.455	B;B;B	0.32211	0.099;0.081;0.142	T	0.27536	-1.0071	10	0.87932	D	0	-2.4298	12.2062	0.54353	0.0:0.0:1.0:0.0	.	1123;1182;1181	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	K	1181;1123;844;202;1181;140	ENSP00000400359:E1181K;ENSP00000377586:E1123K;ENSP00000319318:E1181K;ENSP00000395039:E140K	ENSP00000319318:E1181K	E	+	1	0	STAG3	99647379	0.584000	0.26766	0.330000	0.25442	0.409000	0.31022	2.122000	0.41987	2.606000	0.88127	0.561000	0.74099	GAA		0.502	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
PILRB	29990	broad.mit.edu	37	7	99957093	99957093	+	Silent	SNP	C	C	T	rs371268553		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99957093C>T	ENST00000452089.1	+	8	1647	c.588C>T	c.(586-588)gtC>gtT	p.V196V	PILRB_ENST00000610247.1_Silent_p.V196V|PILRB_ENST00000609309.1_Silent_p.V196V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Missense_Mutation_p.R249C|PILRB_ENST00000444073.1_Silent_p.V196V			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	196					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)		p.V196V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATTGGCTGTCGCTGTGCTCA	0.547																																					p.V196V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	7						.						100.0	109.0	106.0					7																	99957093		2201	4300	6501	99795029	SO:0001819	synonymous_variant	29990	exon3			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.588C>T	7.37:g.99957093C>T			99795029	NM_178238	Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	C	5.077	0.199872	0.09652	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	2.32	-2.98	0.05513	.	.	.	.	.	T	0.21718	0.0523	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	6	.	.	.	.	6.1239	0.20167	0.0:0.4128:0.0:0.5872	.	127	Q9UKJ0-2	.	C	127;249	.	.	R	+	1	0	PILRB	99795029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.414000	0.00237	-0.557000	0.06126	-0.275000	0.10095	CGC		0.547	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238	
PILRA	29992	broad.mit.edu	37	7	99987612	99987612	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99987612C>T	ENST00000198536.2	+	3	768	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	PILRA_ENST00000350573.2_Intron|PILRA_ENST00000453419.1_Intron|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	186					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R186C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCAAACGACGCTCAGACTC	0.582																																					p.R186C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556T	7						.						156.0	122.0	133.0					7																	99987612		2203	4300	6503	99825548	SO:0001583	missense	29992	exon3			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.556C>T	7.37:g.99987612C>T	ENSP00000198536:p.Arg186Cys		99825548	NM_013439	Q8NHI1	Missense_Mutation	SNP	ENST00000198536.2	37	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	C	9.355	1.066487	0.20067	.	.	ENSG00000085514	ENST00000198536	T	0.18338	2.22	2.8	0.359	0.16088	.	1.222400	0.05765	N	0.605562	T	0.06096	0.0158	N	0.08118	0	0.09310	N	1	P	0.46277	0.875	B	0.32211	0.142	T	0.20338	-1.0278	9	.	.	.	.	3.2664	0.06867	0.5906:0.265:0.1445:0.0	.	186	Q9UKJ1	PILRA_HUMAN	C	186	ENSP00000198536:R186C	.	R	+	1	0	PILRA	99825548	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.165000	0.16564	0.066000	0.16515	-1.105000	0.02106	CGC		0.582	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439	
ZCWPW1	55063	broad.mit.edu	37	7	99998815	99998815	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:99998815C>A	ENST00000398027.2	-	18	2016	c.1769G>T	c.(1768-1770)aGa>aTa	p.R590I	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R419I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.D520Y|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R419I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	590							zinc ion binding (GO:0008270)	p.R590I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCCCGGTGTCTGGGCTCTTC	0.572																																					p.R590I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1769T	7						.						46.0	47.0	47.0					7																	99998815		1889	4110	5999	99836751	SO:0001583	missense	55063	exon18			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1769G>T	7.37:g.99998815C>A	ENSP00000381109:p.Arg590Ile		99836751	NM_017984	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.66|13.66|13.66	2.304924|2.304924|2.304924	0.40795|0.40795|0.40795	.|.|.	.|.|.	ENSG00000078487|ENSG00000233389|ENSG00000078487	ENST00000360951;ENST00000471336|ENST00000449355|ENST00000398027;ENST00000490721;ENST00000324725	T;T|.|T;T;T	0.59906|.|0.46819	0.69;0.23|.|0.88;0.86;0.86	4.75|4.75|4.75	-4.39|-4.39|-4.39	0.03611|0.03611|0.03611	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.19287|0.19287|0.19287	0.0463|0.0463|0.0463	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.09310|0.09310|0.09310	N|N|N	1|1|1	P|.|B;B;B	0.35982|.|0.30763	0.531|.|0.196;0.294;0.141	B|.|B;B;B	0.30646|.|0.21151	0.118|.|0.014;0.022;0.033	T|T|T	0.14035|0.14035|0.14035	-1.0487|-1.0487|-1.0487	8|5|8	.|.|.	.|.|.	.|.|.	5.7155|5.7155|5.7155	1.8897|1.8897|1.8897	0.03245|0.03245|0.03245	0.1225:0.1961:0.3611:0.3203|0.1225:0.1961:0.3611:0.3203|0.1225:0.1961:0.3611:0.3203	.|.|.	520|.|551;590;419	B4DUQ2|.|B4DXS7;Q9H0M4;Q9H0M4-4	.|.|.;ZCPW1_HUMAN;.	Y|M|I	520;242|29|590;419;419	ENSP00000354210:D520Y;ENSP00000418351:D242Y|.|ENSP00000381109:R590I;ENSP00000419187:R419I;ENSP00000314880:R419I	.|.|.	D|L|R	-|+|-	1|1|2	0|2|0	ZCWPW1|AC005071.3|ZCWPW1	99836751|99836751|99836751	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.001000|0.001000|0.001000	0.01503|0.01503|0.01503	-1.091000|-1.091000|-1.091000	0.03369|0.03369|0.03369	-0.814000|-0.814000|-0.814000	0.04352|0.04352|0.04352	-0.176000|-0.176000|-0.176000	0.13171|0.13171|0.13171	GAC|CTG|AGA		0.572	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
MEPCE	56257	broad.mit.edu	37	7	100030747	100030747	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100030747G>T	ENST00000310512.2	+	2	2265	c.1877G>T	c.(1876-1878)aGa>aTa	p.R626I	PPP1R35_ENST00000476185.1_5'Flank|MEPCE_ENST00000414441.1_Missense_Mutation_p.R157I|RP11-758P17.2_ENST00000492523.1_RNA	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	626	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R626I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATGGCAAGAGAAAGACTCTT	0.602																																					p.R157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470T	7						.						62.0	59.0	60.0					7																	100030747		2203	4300	6503	99868683	SO:0001583	missense	56257	exon3			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1877G>T	7.37:g.100030747G>T	ENSP00000308546:p.Arg626Ile		99868683	NM_001194991	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038929	0.75617	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	T	0.40756	1.02	5.37	5.37	0.77165	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.68595	-0.5367	10	0.66056	D	0.02	-24.8873	16.9485	0.86237	0.0:0.0:1.0:0.0	.	626	Q7L2J0	MEPCE_HUMAN	I	157;157;626	ENSP00000400875:R157I	ENSP00000308546:R626I	R	+	2	0	MEPCE	99868683	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.965000	0.70387	2.677000	0.91161	0.462000	0.41574	AGA		0.602	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1		
AGFG2	3268	broad.mit.edu	37	7	100148030	100148030	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:100148030G>T	ENST00000300176.4	+	3	449	c.327G>T	c.(325-327)aaG>aaT	p.K109N	AGFG2_ENST00000262935.4_Missense_Mutation_p.K109N	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	109	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K109N(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGCCGGAAGATTTGGTTGG	0.378																																					p.K109N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G327T	7						.						130.0	133.0	132.0					7																	100148030		2203	4300	6503	99985966	SO:0001583	missense	3268	exon3			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.327G>T	7.37:g.100148030G>T	ENSP00000300176:p.Lys109Asn		99985966	NM_006076	O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838026	0.50951	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.44881	0.91;0.91	6.14	4.32	0.51571	.	0.155894	0.64402	D	0.000018	T	0.54679	0.1873	L	0.48218	1.51	0.38971	D	0.958757	P;D	0.76494	0.544;0.999	B;D	0.74674	0.234;0.984	T	0.56226	-0.8014	10	0.49607	T	0.09	-9.994	11.6413	0.51235	0.146:0.0:0.854:0.0	.	109;109	O95081-2;O95081	.;AGFG2_HUMAN	N	109	ENSP00000300176:K109N;ENSP00000262935:K109N	ENSP00000262935:K109N	K	+	3	2	AGFG2	99985966	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.872000	0.39549	0.912000	0.36772	0.650000	0.86243	AAG		0.378	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076	
VIPR2	7434	broad.mit.edu	37	7	158835801	158835801	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:158835801G>T	ENST00000262178.2	-	6	707	c.522C>A	c.(520-522)atC>atA	p.I174I	VIPR2_ENST00000377633.3_Silent_p.I158I|VIPR2_ENST00000402066.1_Silent_p.I315I	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	174					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.I174I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCAGCACTGAGATGGCTCTCA	0.577																																					p.I174I	Pancreas(154;1876 1931 2329 17914 20079)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522A	7						.						141.0	113.0	123.0					7																	158835801		2203	4300	6503	158528562	SO:0001819	synonymous_variant	7434	exon6			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.522C>A	7.37:g.158835801G>T			158528562	NM_003382	Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	CCDS5950.1																																																																																				0.577	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
ZNF337	26152	broad.mit.edu	37	20	25655992	25655994	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25655992_25655994delGAG	ENST00000376436.1	-	4	2469_2471	c.1930_1932delCTC	c.(1930-1932)ctcdel	p.L644del	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_In_Frame_Del_p.L644del|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_In_Frame_Del_p.L612del|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	644					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.L644delL(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGGTGTGTGAGGAGATTTCCC	0.527																																					p.644_644del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1930_1932del	20						.			0,4264		0,0,2132						1.1	0.0			87	4,8250		0,4,4123	no	coding	ZNF337	NM_015655.2		0,4,6255	A1A1,A1R,RR		0.0485,0.0,0.032				4,12514				25603994	SO:0001651	inframe_deletion	26152	exon5				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1930_1932delCTC	20.37:g.25655995_25655997delGAG	ENSP00000365619:p.Leu644del		25603992	NM_015655	B4DSM2|Q9Y3Y5	In_Frame_Del	DEL	ENST00000376436.1	37	CCDS13174.1																																																																																				0.527	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
SLC23A2	9962	broad.mit.edu	37	20	4880249	4880249	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:4880249delA	ENST00000379333.1	-	6	826	c.434delT	c.(433-435)ttcfs	p.F146fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.F146fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.F146fs|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	146					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.F145fs*38(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACACAGAAGAAAATGGTCCC	0.552																																					p.F145fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.434delT	20						.						196.0	181.0	186.0					20																	4880249		2203	4300	6503	4828249	SO:0001589	frameshift_variant	9962	exon6			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.434delT	20.37:g.4880249delA	ENSP00000368637:p.Phe146fs		4828249	NM_203327	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	CCDS13085.1																																																																																				0.552	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
PSMF1	9491	broad.mit.edu	37	20	1106243	1106243	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1106243C>T	ENST00000335877.6	+	2	408	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	PSMF1_ENST00000246015.4_Missense_Mutation_p.L78F|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Missense_Mutation_p.L78F|PSMF1_ENST00000438768.2_Missense_Mutation_p.L78F	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	78	Important for homodimerization and interaction with FBXO7.				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 endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)	p.L78F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTCCAGAAAGCTCCTTGTGAA	0.507																																					p.L78F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232T	20						.						133.0	112.0	119.0					20																	1106243		2203	4300	6503	1054243	SO:0001583	missense	9491	exon2			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.232C>T	20.37:g.1106243C>T	ENSP00000338039:p.Leu78Phe		1054243	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801539	0.50315	.	.	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000002	T	0.36908	0.0984	L	0.39633	1.23	0.80722	D	1	P;B;B	0.50443	0.935;0.226;0.226	P;B;B	0.45712	0.491;0.109;0.109	T	0.07290	-1.0780	10	0.10377	T	0.69	-20.4883	15.1704	0.72869	0.0:1.0:0.0:0.0	.	78;78;78	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	F	78	ENSP00000327704:L78F;ENSP00000371324:L78F;ENSP00000246015:L78F;ENSP00000338039:L78F;ENSP00000401404:L78F	ENSP00000246015:L78F	L	+	1	0	PSMF1	1054243	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.348000	0.52209	2.562000	0.86427	0.585000	0.79938	CTC		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	
SLX4IP	128710	broad.mit.edu	37	20	10603735	10603735	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10603735C>A	ENST00000334534.5	+	8	1115	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	312								p.S312Y(1)									GGGAGAGTTTCTCTTGGAAGT	0.483																																					p.S312Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C935A	20						.						88.0	99.0	95.0					20																	10603735		2203	4300	6503	10551735	SO:0001583	missense	128710	exon8			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.935C>A	20.37:g.10603735C>A	ENSP00000335557:p.Ser312Tyr		10551735	NM_001009608	Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692476	0.68271	.	.	ENSG00000149346	ENST00000334534	T	0.56941	0.43	5.96	5.03	0.67393	.	0.241828	0.36555	N	0.002521	T	0.53433	0.1796	L	0.59436	1.845	0.33769	D	0.622828	P	0.45827	0.867	P	0.46253	0.509	T	0.69745	-0.5062	10	0.72032	D	0.01	-0.9988	9.7797	0.40640	0.0:0.7871:0.1399:0.0729	.	312	Q5VYV7	CT094_HUMAN	Y	312	ENSP00000335557:S312Y	ENSP00000335557:S312Y	S	+	2	0	C20orf94	10551735	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.603000	0.36794	1.533000	0.49186	0.650000	0.86243	TCT		0.483	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608	
SNPH	9751	broad.mit.edu	37	20	1285732	1285732	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1285732G>A	ENST00000381873.3	+	6	755	c.519G>A	c.(517-519)caG>caA	p.Q173Q	SNPH_ENST00000381867.1_Silent_p.Q217Q	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	173					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)	p.Q217Q(1)|p.Q173Q(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCAACATCCAGAACAAGAAGC	0.567																																					p.Q173Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G519A	20						.						118.0	94.0	102.0					20																	1285732		2203	4300	6503	1233732	SO:0001819	synonymous_variant	9751	exon6				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.519G>A	20.37:g.1285732G>A			1233732	NM_014723	Q8IYI3	Silent	SNP	ENST00000381873.3	37	CCDS13012.1																																																																																				0.567	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723	
JAG1	182	broad.mit.edu	37	20	10629720	10629720	+	Missense_Mutation	SNP	C	C	T	rs201667840		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10629720C>T	ENST00000254958.5	-	11	1899	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.A303T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	462	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.A462T(4)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CGACAGGAGGCGTCATTCTGA	0.353									Alagille Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		18871	0.0		0.001	False		,,,				2504	0.0				p.A462T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1384A	20						.						51.0	54.0	53.0					20																	10629720		2203	4300	6503	10577720	SO:0001583	missense	182	exon11	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1384G>A	20.37:g.10629720C>T	ENSP00000254958:p.Ala462Thr		10577720	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	29.8	5.033955	0.93575	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.94232	-3.38;-3.38	6.07	6.07	0.98685	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.047852	0.85682	D	0.000000	D	0.97337	0.9129	M	0.93062	3.375	0.52099	D	0.999949	D	0.69078	0.997	P	0.59424	0.857	D	0.97462	1.0035	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	462	P78504	JAG1_HUMAN	T	462;303	ENSP00000254958:A462T;ENSP00000389519:A303T	ENSP00000254958:A462T	A	-	1	0	JAG1	10577720	1.000000	0.71417	0.949000	0.38748	0.981000	0.71138	7.786000	0.85741	2.884000	0.98904	0.655000	0.94253	GCC		0.353	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
SPTLC3	55304	broad.mit.edu	37	20	13140674	13140674	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:13140674G>T	ENST00000399002.2	+	11	1714	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	480					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.E480D(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATATGCTAGAGAAAAAAATTG	0.433																																					p.E480D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1440T	20						.						83.0	84.0	83.0					20																	13140674		1802	4078	5880	13088674	SO:0001583	missense	55304	exon11			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1440G>T	20.37:g.13140674G>T	ENSP00000381968:p.Glu480Asp		13088674	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.608639|2.608639	0.46527|0.46527	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.91521|.	-2.86|.	5.84|5.84	-2.74|-2.74	0.05932|0.05932	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.600804|.	0.19225|.	N|.	0.119574|.	T|T	0.38772|0.38772	0.1053|0.1053	L|L	0.39633|0.39633	1.23|1.23	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.17979|.	0.02|.	T|T	0.34279|0.34279	-0.9835|-0.9835	10|5	0.41790|.	T|.	0.15|.	-0.1086|-0.1086	1.3341|1.3341	0.02141|0.02141	0.1747:0.326:0.2396:0.2597|0.1747:0.326:0.2396:0.2597	.|.	480|.	Q9NUV7|.	SPTC3_HUMAN|.	D|I	480|78	ENSP00000381968:E480D|.	ENSP00000381968:E480D|.	E|R	+|+	3|2	2|0	SPTLC3|SPTLC3	13088674|13088674	0.464000|0.464000	0.25807|0.25807	0.074000|0.074000	0.20217|0.20217	0.785000|0.785000	0.44390|0.44390	-0.086000|-0.086000	0.11233|0.11233	-0.265000|-0.265000	0.09352|0.09352	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.433	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
ISM1	140862	broad.mit.edu	37	20	13279839	13279839	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:13279839G>A	ENST00000262487.4	+	6	1134	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	376	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)		p.E376E(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TGTCCCTGGAGAGCACCACGC	0.647																																					p.E376E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	20						.						24.0	28.0	27.0					20																	13279839		2167	4273	6440	13227839	SO:0001819	synonymous_variant	140862	exon6			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1128G>A	20.37:g.13279839G>A			13227839	NM_080826	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																				0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
SEL1L2	80343	broad.mit.edu	37	20	13839926	13839926	+	Silent	SNP	G	G	A	rs372265984		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:13839926G>A	ENST00000284951.5	-	18	1874	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	600						integral component of membrane (GO:0016021)		p.H600H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TGCCTAAGCCGTGTTCATACA	0.393																																					p.H600H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1800T	20						.	G		1,4043		0,1,2021	181.0	164.0	169.0		1800	-11.0	0.0	20		169	0,8358		0,0,4179	no	coding-synonymous	SEL1L2	NM_025229.1		0,1,6200	AA,AG,GG		0.0,0.0247,0.0081		600/689	13839926	1,12401	2022	4179	6201	13787926	SO:0001819	synonymous_variant	80343	exon18			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1800C>T	20.37:g.13839926G>A			13787926	NM_025229	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SEL1L2	80343	broad.mit.edu	37	20	13846146	13846146	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:13846146G>T	ENST00000284951.5	-	16	1493	c.1419C>A	c.(1417-1419)gtC>gtA	p.V473V	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	473						integral component of membrane (GO:0016021)		p.V473V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTAGTTCACAGACACCTTTAT	0.438																																					p.V473V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1419A	20						.						69.0	65.0	66.0					20																	13846146		1880	4105	5985	13794146	SO:0001819	synonymous_variant	80343	exon16			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1419C>A	20.37:g.13846146G>T			13794146	NM_025229	B4DXX5	Silent	SNP	ENST00000284951.5	37																																																																																					0.438	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SIRPB2	284759	broad.mit.edu	37	20	1460486	1460486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1460486C>A	ENST00000359801.3	-	2	346	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000608747.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	97	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E203*(1)|p.E104*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAGTGGTTCTGATGTCCGT	0.453																																					p.E104X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G310T	20						.						142.0	126.0	131.0					20																	1460486		1568	3582	5150	1408486	SO:0001587	stop_gained	284759	exon2			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.310G>T	20.37:g.1460486C>A	ENSP00000352849:p.Glu104*		1408486	NM_001122962	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Nonsense_Mutation	SNP	ENST00000359801.3	37	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980424	0.74474	.	.	ENSG00000196209	ENST00000359801	.	.	.	4.13	4.13	0.48395	.	0.952302	0.08635	N	0.916503	.	.	.	.	.	.	0.44214	D	0.997042	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-24.4079	12.0631	0.53574	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000352849:E104X	E	-	1	0	SIRPB2	1408486	0.001000	0.12720	0.020000	0.16555	0.853000	0.48598	0.747000	0.26290	2.312000	0.78011	0.655000	0.94253	GAA		0.453	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459	
SIRPB2	284759	broad.mit.edu	37	20	1460689	1460689	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1460689C>A	ENST00000537284.1	-	0	160				SIRPB2_ENST00000359801.3_Missense_Mutation_p.R36M|SIRPB2_ENST00000444444.2_Missense_Mutation_p.R36M|SIRPB2_ENST00000608747.1_5'UTR			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R135M(1)|p.R36M(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCAGTCATTCCTGCTGCTCTG	0.537																																					p.R36M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G107T	20						.						43.0	40.0	41.0					20																	1460689		1568	3581	5149	1408689			284759	exon2			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000537284.1:c.-177G>T	20.37:g.1460689C>A			1408689	NM_001122962	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000537284.1	37		.	.	.	.	.	.	.	.	.	.	C	10.73	1.432341	0.25813	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.02682	4.66;4.2;4.29	4.44	-2.43	0.06522	Immunoglobulin-like (1);	1.935470	0.02296	N	0.070752	T	0.01976	0.0062	N	0.17474	0.49	0.18873	N	0.999988	B;P	0.39576	0.0;0.679	B;B	0.38500	0.001;0.275	T	0.30179	-0.9987	10	0.32370	T	0.25	-8.4472	0.2245	0.00172	0.3024:0.2764:0.148:0.2732	.	36;36	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	M	36	ENSP00000352849:R36M;ENSP00000402438:R36M;ENSP00000371043:R36M	ENSP00000352849:R36M	R	-	2	0	SIRPB2	1408689	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.299000	0.08254	-0.266000	0.09339	0.655000	0.94253	AGG		0.537	SIRPB2-201	KNOWN	basic	protein_coding	protein_coding		NM_178459	
SIRPB1	10326	broad.mit.edu	37	20	1552399	1552399	+	Missense_Mutation	SNP	G	G	A	rs142083473	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1552399G>A	ENST00000381605.4	-	3	782	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	240	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTCCCACGAAGAGGGTCC	0.627													.|||	4	0.000798722	0.003	0.0	5008	,	,		19667	0.0		0.0	False		,,,				2504	0.0				p.R240C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718T	20						.	G	,CYS/ARG	11,4395		0,11,2192	106.0	95.0	99.0		,718	1.5	0.9	20	dbSNP_134	99	0,8600		0,0,4300	no	intron,missense	SIRPB1	NM_001083910.2,NM_006065.3	,180	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	,probably-damaging	,240/399	1552399	11,12995	2203	4300	6503	1500399	SO:0001583	missense	10326	exon3			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.718C>T	20.37:g.1552399G>A	ENSP00000371018:p.Arg240Cys		1500399	NM_006065	A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	CCDS13019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	12.42	1.932274	0.34096	0.002497	0.0	ENSG00000101307	ENST00000381605	T	0.02812	4.15	2.47	1.5	0.22942	Immunoglobulin-like (1);	0.229512	0.29205	N	0.012832	T	0.11623	0.0283	M	0.85197	2.74	0.54753	D	0.999984	D	0.89917	1.0	D	0.66351	0.943	T	0.00726	-1.1592	10	0.72032	D	0.01	.	5.4858	0.16749	0.1673:0.0:0.8327:0.0	.	240	O00241	SIRB1_HUMAN	C	240	ENSP00000371018:R240C	ENSP00000371018:R240C	R	-	1	0	SIRPB1	1500399	0.005000	0.15991	0.932000	0.37286	0.452000	0.32318	0.255000	0.18333	0.387000	0.25024	-0.380000	0.06706	CGT		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065	
SIRPG	55423	broad.mit.edu	37	20	1629888	1629888	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1629888T>G	ENST00000303415.3	-	2	304	c.240A>C	c.(238-240)caA>caC	p.Q80H	SIRPG_ENST00000216927.4_Missense_Mutation_p.Q80H|SIRPG_ENST00000381580.1_Missense_Mutation_p.Q47H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Missense_Mutation_p.Q80H|SIRPG_ENST00000381583.2_Missense_Mutation_p.Q80H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	80	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q80H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCCTTCTTTTTGATTGTAGA	0.522																																					p.Q80H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A240C	20						.						215.0	191.0	199.0					20																	1629888		2203	4300	6503	1577888	SO:0001583	missense	55423	exon2			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.240A>C	20.37:g.1629888T>G	ENSP00000305529:p.Gln80His		1577888	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	5.707	0.314961	0.10789	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	1.93	-0.372	0.12520	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.317880	0.04801	N	0.433402	T	0.57431	0.2053	L	0.50333	1.59	0.09310	N	1	B;B;B	0.16603	0.006;0.018;0.01	B;B;B	0.14023	0.003;0.006;0.01	T	0.29427	-1.0012	10	0.23891	T	0.37	.	6.0232	0.19640	0.0:0.0:0.437:0.563	.	80;80;80	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	H	47;80;80;80;80	ENSP00000370992:Q47H;ENSP00000342759:Q80H;ENSP00000305529:Q80H;ENSP00000370995:Q80H;ENSP00000216927:Q80H	ENSP00000216927:Q80H	Q	-	3	2	SIRPG	1577888	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	0.084000	0.14891	-0.059000	0.13154	0.164000	0.16699	CAA		0.522	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
SIRPG	55423	broad.mit.edu	37	20	1638306	1638306	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1638306G>T	ENST00000303415.3	-	1	119	c.55C>A	c.(55-57)Cta>Ata	p.L19I	SIRPG_ENST00000216927.4_Missense_Mutation_p.L19I|SIRPG_ENST00000344103.4_Missense_Mutation_p.L19I|SIRPG_ENST00000381583.2_Missense_Mutation_p.L19I	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	19					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L19I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCCAGCAGTAGAGTCAGAAGC	0.547																																					p.L19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55A	20						.						127.0	113.0	118.0					20																	1638306		2203	4300	6503	1586306	SO:0001583	missense	55423	exon1			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.55C>A	20.37:g.1638306G>T	ENSP00000305529:p.Leu19Ile		1586306	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	10.80	1.453520	0.26161	.	.	ENSG00000089012	ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.16324	3.84;2.35;4.62;4.62	2.29	1.33	0.21861	Immunoglobulin-like (1);	2.788340	0.02080	N	0.052245	T	0.43612	0.1255	M	0.80847	2.515	0.09310	N	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.996;0.932;0.997	T	0.02789	-1.1110	10	0.66056	D	0.02	.	4.8961	0.13751	0.1819:0.0:0.8181:0.0	.	19;19;19	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	I	19	ENSP00000342759:L19I;ENSP00000305529:L19I;ENSP00000370995:L19I;ENSP00000216927:L19I	ENSP00000216927:L19I	L	-	1	2	SIRPG	1586306	0.015000	0.18098	0.003000	0.11579	0.108000	0.19459	0.348000	0.20031	0.526000	0.28541	0.543000	0.68304	CTA		0.547	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
SEL1L2	80343	broad.mit.edu	37	20	13971174	13971174	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:13971174G>A	ENST00000284951.5	-	1	81	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Missense_Mutation_p.P3S			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	3						integral component of membrane (GO:0016021)		p.P3S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGAGACAAGGGCTTCATCTTC	0.438																																					p.P3S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	20						.						102.0	95.0	97.0					20																	13971174		1872	4111	5983	13919174	SO:0001583	missense	80343	exon1			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.7C>T	20.37:g.13971174G>A	ENSP00000284951:p.Pro3Ser		13919174	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731538	0.69189	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.26067	1.76;2.16	6.07	4.14	0.48551	.	0.599158	0.15906	N	0.238833	T	0.16685	0.0401	N	0.19112	0.55	0.23192	N	0.998144	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.17319	-1.0373	10	0.46703	T	0.11	2.5839	8.8731	0.35327	0.1685:0.0:0.8315:0.0	.	3;3	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	S	3	ENSP00000367312:P3S;ENSP00000284951:P3S	ENSP00000284951:P3S	P	-	1	0	SEL1L2	13919174	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.401000	0.34589	0.904000	0.36572	0.585000	0.79938	CCC		0.438	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
KIF16B	55614	broad.mit.edu	37	20	16493483	16493483	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:16493483C>T	ENST00000354981.2	-	5	591	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R145Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.R145Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R145Q(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTTCAGTTCGAAAAGAAGC	0.483																																					p.R145Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G434A	20						.						107.0	93.0	98.0					20																	16493483		2203	4300	6503	16441483	SO:0001583	missense	55614	exon5			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.434G>A	20.37:g.16493483C>T	ENSP00000347076:p.Arg145Gln		16441483	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593849	0.96602	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74737	-0.87;-0.87;-0.87	5.79	5.79	0.91817	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	N	0.13327	0.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.978;0.978;0.983;0.99	T	0.81118	-0.1078	10	0.72032	D	0.01	.	18.2217	0.89904	0.0:1.0:0.0:0.0	.	145;145;145;145	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	145	ENSP00000347076:R145Q;ENSP00000347995:R145Q;ENSP00000384164:R145Q	ENSP00000347076:R145Q	R	-	2	0	KIF16B	16441483	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.482000	0.81143	2.739000	0.93911	0.655000	0.94253	CGA		0.483	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
KIF16B	55614	broad.mit.edu	37	20	16506742	16506742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:16506742C>A	ENST00000354981.2	-	3	383	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E76*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E76*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E76*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TATACCATTTCTTGTGAAACG	0.338																																					p.E76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G226T	20						.						112.0	115.0	114.0					20																	16506742		2203	4300	6503	16454742	SO:0001587	stop_gained	55614	exon3			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.226G>T	20.37:g.16506742C>A	ENSP00000347076:p.Glu76*		16454742	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193130	0.94960	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.3705	0.83355	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000347076:E76X	E	-	1	0	KIF16B	16454742	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	5.383000	0.66219	2.584000	0.87258	0.557000	0.71058	GAA		0.338	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
PCSK2	5126	broad.mit.edu	37	20	17445972	17445972	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17445972C>A	ENST00000262545.2	+	11	1519	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	PCSK2_ENST00000377899.1_Splice_Site_p.L383M|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Splice_Site_p.L367M	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	402	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.L402M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGTATCCAGCCTGGGTCTGAC	0.562																																					p.L402M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1204A	20						.						61.0	47.0	52.0					20																	17445972		2203	4300	6503	17393972	SO:0001630	splice_region_variant	5126	exon11			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1203-1C>A	20.37:g.17445972C>A			17393972	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471733	0.43942	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.42131	0.98;0.98;0.98	5.61	1.13	0.20643	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.264406	0.37623	N	0.002016	T	0.21921	0.0528	N	0.16656	0.425	0.33324	D	0.567652	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.16722	0.016;0.01;0.005	T	0.07966	-1.0745	10	0.62326	D	0.03	-6.6611	3.3222	0.07054	0.1294:0.4733:0.2516:0.1457	.	367;383;402	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	M	383;402;367	ENSP00000367131:L383M;ENSP00000262545:L402M;ENSP00000437458:L367M	ENSP00000262545:L402M	L	+	1	2	PCSK2	17393972	0.990000	0.36364	0.822000	0.32727	0.984000	0.73092	0.831000	0.27476	0.285000	0.22329	0.555000	0.69702	CTG		0.562	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Missense_Mutation
BFSP1	631	broad.mit.edu	37	20	17474974	17474974	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17474974C>A	ENST00000377873.3	-	8	1782	c.1743G>T	c.(1741-1743)gaG>gaT	p.E581D	BFSP1_ENST00000536626.1_Missense_Mutation_p.E442D|BFSP1_ENST00000377868.2_Missense_Mutation_p.E456D|BFSP1_ENST00000544874.1_Missense_Mutation_p.E442D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	581	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E581D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TAGATGGTTCCTCTGCACCGG	0.592																																					p.E456D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1368T	20						.						122.0	121.0	122.0					20																	17474974		2203	4300	6503	17422974	SO:0001583	missense	631	exon8			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1743G>T	20.37:g.17474974C>A	ENSP00000367104:p.Glu581Asp		17422974	NM_001161705	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947714	0.18356	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.76	-0.239	0.13050	.	0.761961	0.12979	N	0.423466	T	0.30103	0.0754	L	0.41824	1.3	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.25257	-1.0137	10	0.11182	T	0.66	-9.9217	5.4762	0.16697	0.4522:0.3711:0.0:0.1767	.	456;581	Q12934-2;Q12934	.;BFSP1_HUMAN	D	581;456;442;442	ENSP00000367104:E581D;ENSP00000367099:E456D;ENSP00000442522:E442D;ENSP00000439870:E442D	ENSP00000367099:E456D	E	-	3	2	BFSP1	17422974	0.000000	0.05858	0.396000	0.26296	0.260000	0.26232	0.261000	0.18442	0.051000	0.15978	0.655000	0.94253	GAG		0.592	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195	
BFSP1	631	broad.mit.edu	37	20	17505516	17505516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17505516C>A	ENST00000377873.3	-	2	454	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	BFSP1_ENST00000536626.1_5'UTR|BFSP1_ENST00000377868.2_Nonsense_Mutation_p.E14*|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	139	Coil 1B.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E139*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCAAGCATTTCTTTTAGCAGG	0.418																																					p.E14X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G40T	20						.						239.0	186.0	204.0					20																	17505516		2203	4300	6503	17453516	SO:0001587	stop_gained	631	exon2			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.415G>T	20.37:g.17505516C>A	ENSP00000367104:p.Glu139*		17453516	NM_001161705	F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Nonsense_Mutation	SNP	ENST00000377873.3	37	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	37	6.065802	0.97251	.	.	ENSG00000125864	ENST00000377873;ENST00000377868	.	.	.	5.21	5.21	0.72293	.	0.394331	0.29868	N	0.010991	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.6219	15.8484	0.78907	0.0:1.0:0.0:0.0	.	.	.	.	X	139;14	.	ENSP00000367099:E14X	E	-	1	0	BFSP1	17453516	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	2.539000	0.45718	2.595000	0.87683	0.557000	0.71058	GAA		0.418	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195	
DSTN	11034	broad.mit.edu	37	20	17581440	17581440	+	Missense_Mutation	SNP	C	C	T	rs138670114		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17581440C>T	ENST00000246069.7	+	2	407	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	DSTN_ENST00000474024.1_Missense_Mutation_p.R4C	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	21	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.R21C(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CATGAAAGTTCGTAAATGCTC	0.358																																					p.R21C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C61T	20						.						38.0	38.0	38.0					20																	17581440		2203	4296	6499	17529440	SO:0001583	missense	11034	exon2			S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.61C>T	20.37:g.17581440C>T	ENSP00000246069:p.Arg21Cys		17529440	NM_006870	B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747540	0.30955	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.32753	1.44;1.44	5.65	0.0598	0.14334	Actin-binding, cofilin/tropomyosin type (2);	0.167420	0.50627	D	0.000107	T	0.24812	0.0602	L	0.46614	1.455	0.48341	D	0.999637	B	0.15141	0.012	B	0.19666	0.026	T	0.06356	-1.0831	10	0.54805	T	0.06	-0.2453	9.4785	0.38887	0.4798:0.4556:0.0:0.0646	.	21	P60981	DEST_HUMAN	C	21;4	ENSP00000246069:R21C;ENSP00000444808:R4C	ENSP00000246069:R21C	R	+	1	0	DSTN	17529440	1.000000	0.71417	0.993000	0.49108	0.783000	0.44284	1.890000	0.39728	-0.192000	0.10432	-0.309000	0.09137	CGT		0.358	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546	
SNX5	27131	broad.mit.edu	37	20	17950834	17950834	+	5'Flank	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17950834A>C	ENST00000377768.3	-	0	0				SNX5_ENST00000606557.1_5'Flank|SNX5_ENST00000377759.4_5'Flank|SNX5_ENST00000486039.1_5'Flank|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Intron|SNX5_ENST00000606602.1_5'Flank|MGME1_ENST00000377710.5_Missense_Mutation_p.K111T|SNX5_ENST00000481323.1_5'Flank|MGME1_ENST00000377704.4_Missense_Mutation_p.K111T	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)	p.K111T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AGAAGTGATAAACCAAATGCA	0.463																																					p.K111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332C	20						.						76.0	80.0	79.0					20																	17950834		2203	4300	6503	17898834	SO:0001631	upstream_gene_variant	92667	exon2			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950834A>C	Exception_encountered		17898834	NM_052865	B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	1.789	-0.480107	0.04383	.	.	ENSG00000125871	ENST00000377710;ENST00000377704	T;T	0.47528	0.9;0.84	5.6	-8.29	0.01009	.	2.378200	0.01173	N	0.006919	T	0.33760	0.0874	L	0.53249	1.67	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.10177	-1.0641	10	0.23302	T	0.38	0.2299	3.7189	0.08449	0.1126:0.3661:0.3168:0.2044	.	111	Q9BQP7	CT072_HUMAN	T	111	ENSP00000366939:K111T;ENSP00000366933:K111T	ENSP00000366933:K111T	K	+	2	0	C20orf72	17898834	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-0.416000	0.07097	-1.208000	0.02634	0.459000	0.35465	AAA		0.463	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
MGME1	92667	broad.mit.edu	37	20	17970589	17970589	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:17970589G>A	ENST00000377710.5	+	5	1160	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.C211Y|MGME1_ENST00000377704.4_Missense_Mutation_p.M173I	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1									p.C291Y(1)									TAGGTTCAATGTGGCTTAATT	0.468																																					p.C291Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872A	20						.						135.0	127.0	130.0					20																	17970589		2203	4300	6503	17918589	SO:0001583	missense	92667	exon5				CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.872G>A	20.37:g.17970589G>A	ENSP00000366939:p.Cys291Tyr		17918589	NM_052865		Missense_Mutation	SNP	ENST00000377710.5	37	CCDS13131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.014806|2.014806	0.35511|0.35511	.|.	.|.	ENSG00000125871|ENSG00000125871	ENST00000377710;ENST00000377709|ENST00000377704	T;T|T	0.43688|0.45668	0.94;0.98|0.89	6.04|6.04	4.09|4.09	0.47781|0.47781	.|.	0.130549|.	0.64402|.	D|.	0.000001|.	T|T	0.45617|0.45617	0.1351|0.1351	L|L	0.59912|0.59912	1.85|1.85	0.25091|0.25091	N|N	0.990858|0.990858	D|.	0.71674|.	0.998|.	D|.	0.71184|.	0.972|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|7	0.36615|0.24483	T|T	0.2|0.36	-6.9004|-6.9004	11.3115|11.3115	0.49366|0.49366	0.0694:0.1275:0.8032:0.0|0.0694:0.1275:0.8032:0.0	.|.	291|.	Q9BQP7|.	CT072_HUMAN|.	Y|I	291;211|173	ENSP00000366939:C291Y;ENSP00000366938:C211Y|ENSP00000366933:M173I	ENSP00000366938:C211Y|ENSP00000366933:M173I	C|M	+|+	2|3	0|0	C20orf72|C20orf72	17918589|17918589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	3.787000|3.787000	0.55439|0.55439	0.880000|0.880000	0.35969|0.35969	0.563000|0.563000	0.77884|0.77884	TGT|ATG		0.468	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865	
OVOL2	58495	broad.mit.edu	37	20	18005407	18005407	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:18005407T>C	ENST00000278780.6	-	4	943	c.701A>G	c.(700-702)aAc>aGc	p.N234S	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	234					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)	p.N234S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ATGGGCACTGTTCACGTGCAG	0.577																																					p.N234S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701G	20						.						87.0	79.0	82.0					20																	18005407		2203	4300	6503	17953407	SO:0001583	missense	58495	exon4			AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.701A>G	20.37:g.18005407T>C	ENSP00000278780:p.Asn234Ser		17953407	NM_021220	Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	T	7.371	0.626824	0.14257	.	.	ENSG00000125850	ENST00000278780	T	0.50277	0.75	5.25	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.291252	0.38436	N	0.001694	T	0.21841	0.0526	N	0.03608	-0.345	0.09310	N	1	B	0.18461	0.028	B	0.21360	0.034	T	0.07712	-1.0758	10	0.35671	T	0.21	-41.6472	6.4377	0.21833	0.0:0.1864:0.0:0.8136	.	234	Q9BRP0	OVOL2_HUMAN	S	234	ENSP00000278780:N234S	ENSP00000278780:N234S	N	-	2	0	OVOL2	17953407	0.084000	0.21492	1.000000	0.80357	0.170000	0.22686	0.852000	0.27764	1.966000	0.57179	0.460000	0.39030	AAC		0.577	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220	
CSRP2BP	57325	broad.mit.edu	37	20	18143396	18143396	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:18143396G>A	ENST00000435364.3	+	6	1819	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R365H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R492H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	493					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.R493H(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGACTGAAACGCAAACTGATT	0.473																																					p.R493H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478A	20						.						121.0	97.0	105.0					20																	18143396		2203	4300	6503	18091396	SO:0001583	missense	57325	exon6			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1478G>A	20.37:g.18143396G>A	ENSP00000392318:p.Arg493His		18091396	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186845	0.94923	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.27402	1.67;1.67;1.67;1.68	6.03	6.03	0.97812	.	0.063402	0.64402	D	0.000003	T	0.58177	0.2104	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.71414	0.973;0.908	T	0.57382	-0.7821	10	0.87932	D	0	-26.6549	20.5568	0.99304	0.0:0.0:1.0:0.0	.	365;493	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	493;492;493;365	ENSP00000278816:R493H;ENSP00000366909:R492H;ENSP00000392318:R493H;ENSP00000425909:R365H	ENSP00000278816:R493H	R	+	2	0	CSRP2BP	18091396	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	9.060000	0.93907	2.861000	0.98227	0.655000	0.94253	CGC		0.473	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
SIRPA	140885	broad.mit.edu	37	20	1905475	1905475	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:1905475G>A	ENST00000358771.4	+	5	1305	c.1153G>A	c.(1153-1155)Gcc>Acc	p.A385T	SIRPA_ENST00000400068.3_Missense_Mutation_p.A385T|SIRPA_ENST00000356025.3_Missense_Mutation_p.A385T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	385					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A385T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CTTGCTGGTGGCCCTACTGAT	0.537																																					p.A385T	GBM(155;1668 1920 5945 42733 48121)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1153A	20						.						236.0	179.0	198.0					20																	1905475		2203	4300	6503	1853475	SO:0001583	missense	140885	exon5			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1153G>A	20.37:g.1905475G>A	ENSP00000351621:p.Ala385Thr		1853475	NM_001040023	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367067	0.41902	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.19250	2.16;2.16;2.16	4.99	3.04	0.35103	.	0.610713	0.14551	N	0.312659	T	0.12475	0.0303	N	0.24115	0.695	0.23720	N	0.997027	P;B;P	0.43094	0.704;0.019;0.799	B;B;B	0.37650	0.215;0.031;0.255	T	0.11567	-1.0582	10	0.31617	T	0.26	.	8.0976	0.30837	0.1839:0.0:0.8161:0.0	.	365;385;385	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	385	ENSP00000382941:A385T;ENSP00000348307:A385T;ENSP00000351621:A385T	ENSP00000348307:A385T	A	+	1	0	SIRPA	1853475	0.992000	0.36948	1.000000	0.80357	0.473000	0.32948	1.613000	0.36900	0.807000	0.34208	0.591000	0.81541	GCC		0.537	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792	
DZANK1	55184	broad.mit.edu	37	20	18396009	18396009	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:18396009G>T	ENST00000358866.6	-	10	1061	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I	DZANK1_ENST00000262547.5_Missense_Mutation_p.L347I|DZANK1_ENST00000329494.5_Missense_Mutation_p.L349I|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000357236.4_Missense_Mutation_p.L233I			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	347							zinc ion binding (GO:0008270)	p.L347I(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GCCTCCCAGAGATTCCAGCGA	0.552																																					p.L347I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1039A	20						.						84.0	95.0	92.0					20																	18396009		1924	4122	6046	18344009	SO:0001583	missense	55184	exon11			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1039C>A	20.37:g.18396009G>T	ENSP00000351734:p.Leu347Ile		18344009	NM_001099407	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	ENST00000358866.6	37	CCDS46582.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375747	0.11409	.	.	ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000357236	T;T;T;T	0.63417	0.13;-0.04;0.64;0.11	5.71	2.63	0.31362	.	0.881954	0.10286	N	0.692908	T	0.46521	0.1397	N	0.26042	0.785	0.09310	N	1	P;P;B	0.38767	0.551;0.646;0.421	B;B;B	0.37144	0.242;0.161;0.052	T	0.16719	-1.0393	10	0.20519	T	0.43	0.0499	9.8774	0.41211	0.0715:0.2657:0.6628:0.0	.	366;233;347	B7Z631;Q9NVP4-4;Q9NVP4	.;.;DZAN1_HUMAN	I	174;347;349;173;233	ENSP00000366857:L174I;ENSP00000262547:L347I;ENSP00000328866:L349I;ENSP00000349774:L233I	ENSP00000262547:L347I	L	-	1	0	C20orf12	18344009	0.944000	0.32072	0.001000	0.08648	0.182000	0.23217	1.568000	0.36418	0.726000	0.32339	0.467000	0.42956	CTC		0.552	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
DTD1	92675	broad.mit.edu	37	20	18608841	18608841	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:18608841G>A	ENST00000377452.3	+	4	621	c.441G>A	c.(439-441)tcG>tcA	p.S147S	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	147					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.S147S(1)		large_intestine(4)|lung(1)|ovary(2)	7						AGCTGGAATCGCCAGCTCCCG	0.542																																					p.S147S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G441A	20						.						99.0	88.0	91.0					20																	18608841		2203	4300	6503	18556841	SO:0001819	synonymous_variant	92675	exon4			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.441G>A	20.37:g.18608841G>A			18556841	NM_080820	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	CCDS13138.1																																																																																				0.542	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820	
SLC24A3	57419	broad.mit.edu	37	20	19665962	19665962	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:19665962C>T	ENST00000328041.6	+	12	1478	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	427	Poly-Glu.				ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D427D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						aagaggaggacgaggatgatg	0.512																																					p.D427D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1281T	20						.						166.0	142.0	150.0					20																	19665962		2203	4300	6503	19613962	SO:0001819	synonymous_variant	57419	exon12			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1281C>T	20.37:g.19665962C>T			19613962	NM_020689	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	CCDS13140.1																																																																																				0.512	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	
RIN2	54453	broad.mit.edu	37	20	19955749	19955749	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:19955749G>A	ENST00000255006.6	+	8	1376	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	360					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.R360R(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CTCCACCCCGGCTGAAGAAGC	0.607																																					p.R360R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1080A	20						.						73.0	78.0	77.0					20																	19955749		1938	4131	6069	19903749	SO:0001819	synonymous_variant	54453	exon7			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1227G>A	20.37:g.19955749G>A			19903749	NM_018993	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	CCDS56182.1																																																																																				0.607	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1		
CRNKL1	51340	broad.mit.edu	37	20	20018118	20018118	+	Missense_Mutation	SNP	C	C	T	rs375673644		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:20018118C>T	ENST00000377340.2	-	14	2259	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.R582Q|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R731Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	743					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R743Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTCACAGTTTCGCATGGTTTT	0.383																																					p.R743Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2228A	20						.	C	GLN/ARG	0,4406		0,0,2203	190.0	186.0	187.0		2228	5.0	1.0	20		187	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRNKL1	NM_016652.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	743/849	20018118	1,13005	2203	4300	6503	19966118	SO:0001583	missense	51340	exon14			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2228G>A	20.37:g.20018118C>T	ENSP00000366557:p.Arg743Gln		19966118	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584891	0.65992	0.0	1.16E-4	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.57907	0.37;0.37;0.37	5.02	5.02	0.67125	.	0.051632	0.85682	D	0.000000	T	0.47673	0.1458	L	0.49778	1.585	0.50467	D	0.999876	B	0.33135	0.399	B	0.22880	0.042	T	0.53373	-0.8448	10	0.62326	D	0.03	-10.4844	18.5163	0.90936	0.0:1.0:0.0:0.0	.	743	Q9BZJ0	CRNL1_HUMAN	Q	731;743;582	ENSP00000366544:R731Q;ENSP00000366557:R743Q;ENSP00000440733:R582Q	ENSP00000366544:R731Q	R	-	2	0	CRNKL1	19966118	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	4.618000	0.61211	2.596000	0.87737	0.484000	0.47621	CGA		0.383	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
CFAP61	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1088								p.R1088Q(3)|p.R1088P(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458																																					p.R1088Q												.	.	4	Substitution - Missense(4)	large_intestine(3)|lung(1)	c.G3263A	20						.						78.0	75.0	76.0					20																	20278871		2203	4300	6503	20226871	SO:0001583	missense	26074	exon25																														ENST00000245957.5:c.3263G>A	20.37:g.20278871G>A	ENSP00000245957:p.Arg1088Gln		20226871	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
RALGAPA2	57186	broad.mit.edu	37	20	20475785	20475785	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:20475785G>T	ENST00000202677.7	-	36	5350	c.5343C>A	c.(5341-5343)ttC>ttA	p.F1781L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1781	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.F1781L(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTATCGCGATGAAGAACATGT	0.398																																					p.F1781L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5343A	20						.						145.0	139.0	141.0					20																	20475785		1893	4122	6015	20423785	SO:0001583	missense	57186	exon36			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5343C>A	20.37:g.20475785G>T	ENSP00000202677:p.Phe1781Leu		20423785	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.00|14.00	2.404398|2.404398	0.42613|0.42613	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436;ENST00000427175	D;D|.	0.94931|.	-3.56;-3.56|.	5.29|5.29	-2.15|-2.15	0.07102|0.07102	Rap/ran-GAP (2);|.	0.103686|.	0.64402|.	D|.	0.000002|.	T|.	0.44993|.	0.1320|.	N|N	0.21373|0.21373	0.66|0.66	0.38733|0.38733	D|D	0.953718|0.953718	B;D;P|.	0.76494|.	0.046;0.999;0.869|.	B;D;P|.	0.80764|.	0.208;0.994;0.707|.	T|.	0.33777|.	-0.9855|.	10|.	0.44086|.	T|.	0.13|.	.|.	12.1617|12.1617	0.54107|0.54107	0.4598:0.0:0.5401:0.0|0.4598:0.0:0.5401:0.0	.|.	1619;1781;1781|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	L|X	211;1781|1598;192	ENSP00000408332:F211L;ENSP00000202677:F1781L|.	ENSP00000202677:F1781L|.	F|S	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20423785|20423785	1.000000|1.000000	0.71417|0.71417	0.653000|0.653000	0.29593|0.29593	0.932000|0.932000	0.56968|0.56968	1.535000|1.535000	0.36061|0.36061	-0.317000|-0.317000	0.08677|0.08677	-0.471000|-0.471000	0.05019|0.05019	TTC|TCA		0.398	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
RALGAPA2	57186	broad.mit.edu	37	20	20484032	20484032	+	Missense_Mutation	SNP	C	C	T	rs200369501		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:20484032C>T	ENST00000202677.7	-	35	5178	c.5171G>A	c.(5170-5172)cGa>cAa	p.R1724Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1724	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1724Q(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGACGGCATTCGAGTGGAAAC	0.542																																					p.R1724Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5171A	20						.	C	GLN/ARG	0,3944		0,0,1972	91.0	91.0	91.0		5171	5.8	1.0	20		91	2,8300		0,2,4149	yes	missense	RALGAPA2	NM_020343.3	43	0,2,6121	TT,TC,CC		0.0241,0.0,0.0163	probably-damaging	1724/1874	20484032	2,12244	1972	4151	6123	20432032	SO:0001583	missense	57186	exon35			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5171G>A	20.37:g.20484032C>T	ENSP00000202677:p.Arg1724Gln		20432032	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.872882|5.872882	0.97049|0.97049	0.0|0.0	2.41E-4|2.41E-4	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.95069	.|-3.6;-3.6	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97021|0.97021	0.9027|0.9027	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.997;0.998;1.0	D|D	0.96843|0.96843	0.9619|0.9619	5|10	.|0.62326	.|D	.|0.03	.|.	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1562;1724;1724	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	K|Q	1541;135|154;1724	.|ENSP00000408332:R154Q;ENSP00000202677:R1724Q	.|ENSP00000202677:R1724Q	E|R	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20432032|20432032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	7.764000|7.764000	0.85297|0.85297	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.542	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
RALGAPA2	57186	broad.mit.edu	37	20	20585835	20585835	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:20585835C>A	ENST00000202677.7	-	15	2029	c.2022G>T	c.(2020-2022)aaG>aaT	p.K674N	RALGAPA2_ENST00000495793.1_5'UTR	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	674					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.K674N(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTCGTTGCTTCTTTTCCTTTT	0.428																																					p.K674N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2022T	20						.						85.0	80.0	81.0					20																	20585835		1892	4121	6013	20533835	SO:0001583	missense	57186	exon15			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2022G>T	20.37:g.20585835C>A	ENSP00000202677:p.Lys674Asn		20533835	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.751092|3.751092	0.69533|0.69533	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.96856|.	-4.15|.	5.28|5.28	4.33|4.33	0.51752|0.51752	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74007|0.74007	0.3660|0.3660	M|M	0.85041|0.85041	2.73|2.73	0.45295|0.45295	D|D	0.998297|0.998297	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.75932|0.75932	-0.3143|-0.3143	10|5	0.54805|.	T|.	0.06|.	.|.	8.1127|8.1127	0.30924|0.30924	0.0:0.8147:0.0:0.1853|0.0:0.8147:0.0:0.1853	.|.	512;674|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	N|I	674|491	ENSP00000202677:K674N|.	ENSP00000202677:K674N|.	K|R	-|-	3|2	2|0	RALGAPA2|RALGAPA2	20533835|20533835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.951000|1.951000	0.40333|0.40333	2.474000|2.474000	0.83562|0.83562	0.460000|0.460000	0.39030|0.39030	AAG|AGA		0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
KIZ-AS1	101929591	broad.mit.edu	37	20	21142892	21142892	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:21142892G>T	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							GTCATGGCAAGAGTAATTTAT	0.423																																					p.K159N												.	.	0			c.G477T	20						.						157.0	155.0	156.0					20																	21142892		1916	4124	6040	21090892			55857	exon4																															20.37:g.21142892G>T			21090892	NM_001163022		Missense_Mutation	SNP	ENST00000591761.1	37																																																																																					0.423	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2		
KIZ-AS1	101929591	broad.mit.edu	37	20	21186155	21186155	+	RNA	SNP	G	G	A	rs368781277		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:21186155G>A	ENST00000591761.1	-	0	231				RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							AGACTCAGACGTACCGAGGCA	0.398																																					p.V357I												.	.	0			c.G1069A	20						.	G	ILE/VAL,ILE/VAL,ILE/VAL	0,3760		0,0,1880	62.0	58.0	59.0		1069,979,1378	-1.1	0.0	20		59	1,8239		0,1,4119	no	missense,missense,missense	PLK1S1	NM_001163022.1,NM_001163023.1,NM_018474.4	29,29,29	0,1,5999	AA,AG,GG		0.0121,0.0,0.0083	benign,benign,benign	357/571,327/541,460/674	21186155	1,11999	1880	4120	6000	21134155			55857	exon6																															20.37:g.21186155G>A			21134155	NM_001163022		Missense_Mutation	SNP	ENST00000591761.1	37																																																																																					0.398	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2		
XRN2	22803	broad.mit.edu	37	20	21314218	21314218	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:21314218G>T	ENST00000377191.3	+	10	990	c.895G>T	c.(895-897)Gga>Tga	p.G299*	XRN2_ENST00000539513.1_Nonsense_Mutation_p.G245*|XRN2_ENST00000430571.2_Nonsense_Mutation_p.G223*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	299					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G299*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTGTGCAGAAGGAGAGTTTAT	0.408																																					p.G299X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G895T	20						.						241.0	223.0	229.0					20																	21314218		2203	4300	6503	21262218	SO:0001587	stop_gained	22803	exon10			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.895G>T	20.37:g.21314218G>T	ENSP00000366396:p.Gly299*		21262218	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	38	7.090699	0.98055	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	5.73	5.73	0.89815	.	0.099149	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-20.4747	14.3506	0.66699	0.0:0.2637:0.7363:0.0	.	.	.	.	X	299;223;245	.	ENSP00000366396:G299X	G	+	1	0	XRN2	21262218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.385000	0.66231	2.709000	0.92574	0.655000	0.94253	GGA		0.408	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
TGM3	7053	broad.mit.edu	37	20	2290453	2290453	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2290453G>T	ENST00000381458.5	+	2	221	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	53					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.R53I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCTAACGAAAGACTGGAGTTC	0.498																																					p.R53I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158T	20						.						133.0	116.0	122.0					20																	2290453		2203	4300	6503	2238453	SO:0001583	missense	7053	exon2			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.158G>T	20.37:g.2290453G>T	ENSP00000370867:p.Arg53Ile		2238453	NM_003245	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754490	0.31046	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.85088	-1.94	5.53	-7.14	0.01527	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.521290	0.03087	N	0.159309	T	0.75034	0.3795	L	0.40543	1.245	0.09310	N	1	B	0.30439	0.279	B	0.23574	0.047	T	0.62134	-0.6918	10	0.33940	T	0.23	-24.6445	8.3049	0.32036	0.5667:0.1991:0.2342:0.0	.	53	Q08188	TGM3_HUMAN	I	53	ENSP00000370867:R53I	ENSP00000370867:R53I	R	+	2	0	TGM3	2238453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.191000	0.09601	-0.929000	0.03757	-0.305000	0.09177	AGA		0.498	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
XRN2	22803	broad.mit.edu	37	20	21367627	21367627	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:21367627G>T	ENST00000377191.3	+	29	2865	c.2770G>T	c.(2770-2772)Gat>Tat	p.D924Y	XRN2_ENST00000539513.1_Missense_Mutation_p.D870Y|XRN2_ENST00000430571.2_Missense_Mutation_p.D848Y	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	924					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D924Y(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGACGAGATGATCGTGGAGG	0.498																																					p.D924Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2770T	20						.						94.0	87.0	89.0					20																	21367627		2203	4300	6503	21315627	SO:0001583	missense	22803	exon29			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2770G>T	20.37:g.21367627G>T	ENSP00000366396:p.Asp924Tyr		21315627	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427261	0.62733	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.32023	1.47;1.47;1.47	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	N	0.19112	0.55	0.47949	D	0.999559	D	0.76494	0.999	D	0.77557	0.99	T	0.32719	-0.9896	10	0.52906	T	0.07	-25.8238	18.5737	0.91147	0.0:0.0:1.0:0.0	.	924	Q9H0D6	XRN2_HUMAN	Y	924;848;870	ENSP00000366396:D924Y;ENSP00000413548:D848Y;ENSP00000441113:D870Y	ENSP00000366396:D924Y	D	+	1	0	XRN2	21315627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.899000	0.63245	2.824000	0.97209	0.655000	0.94253	GAT		0.498	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
CD93	22918	broad.mit.edu	37	20	23065795	23065795	+	Silent	SNP	G	G	A	rs368417861		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:23065795G>A	ENST00000246006.4	-	1	1182	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	345	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.D345D(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ATTCATCCACGTCCACACAGT	0.652																																					p.D345D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1035T	20						.	G		0,4406		0,0,2203	34.0	37.0	36.0		1035	-9.8	0.0	20		36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD93	NM_012072.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		345/653	23065795	1,13005	2203	4300	6503	23013795	SO:0001819	synonymous_variant	22918	exon1			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1035C>T	20.37:g.23065795G>A			23013795	NM_012072	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																				0.652	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
CSTL1	128817	broad.mit.edu	37	20	23424576	23424576	+	Silent	SNP	G	G	A	rs529625349		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:23424576G>A	ENST00000246020.2	+	2	245	c.225G>A	c.(223-225)acG>acA	p.T75T	CSTL1_ENST00000347397.1_Silent_p.T75T			Q9H114	CST1L_HUMAN	cystatin-like 1	75						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.T75T(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGCAGCTGACGACGGGAGTGG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18945	0.0		0.001	False		,,,				2504	0.0				p.T75T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G225A	20						.						100.0	85.0	90.0					20																	23424576		2203	4300	6503	23372576	SO:0001819	synonymous_variant	128817	exon3			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.225G>A	20.37:g.23424576G>A			23372576	NM_138283	Q17RA8|Q64FF7	Silent	SNP	ENST00000246020.2	37	CCDS13153.1																																																																																				0.522	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1		
CST9L	128821	broad.mit.edu	37	20	23548861	23548861	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:23548861G>T	ENST00000376979.3	-	1	525	c.227C>A	c.(226-228)tCc>tAc	p.S76Y		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	76						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S76Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTCCTTCCAGGAATTCAAGAT	0.547																																					p.S76Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C227A	20						.						143.0	115.0	125.0					20																	23548861		2203	4300	6503	23496861	SO:0001583	missense	128821	exon1				CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.227C>A	20.37:g.23548861G>T	ENSP00000366178:p.Ser76Tyr		23496861	NM_080610	B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	7.587	0.669942	0.14776	.	.	ENSG00000101435	ENST00000376979	T	0.12569	2.67	1.75	-0.401	0.12407	Proteinase inhibitor I25, cystatin (2);	0.284905	0.19012	N	0.125047	T	0.21590	0.0520	M	0.80982	2.52	0.09310	N	1	P	0.47762	0.9	P	0.50352	0.638	T	0.08554	-1.0716	10	0.72032	D	0.01	.	4.0703	0.09879	0.4548:0.0:0.5452:0.0	.	76	Q9H4G1	CST9L_HUMAN	Y	76	ENSP00000366178:S76Y	ENSP00000366178:S76Y	S	-	2	0	CST9L	23496861	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.798000	0.04565	-0.110000	0.12022	-0.657000	0.03884	TCC		0.547	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610	
SNRPB	6628	broad.mit.edu	37	20	2448314	2448314	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2448314T>C	ENST00000438552.2	-	2	256	c.94A>G	c.(94-96)Aag>Gag	p.K32E	RP4-734P14.4_ENST00000461548.1_3'UTR|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Missense_Mutation_p.K32E	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	32					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.K32E(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TCAAAAGCCTTGAAGGTGCCA	0.522																																					p.K32E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A94G	20						.						131.0	104.0	113.0					20																	2448314		2203	4300	6503	2396314	SO:0001583	missense	6628	exon2				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.94A>G	20.37:g.2448314T>C	ENSP00000412566:p.Lys32Glu		2396314	NM_003091	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.975868	0.74360	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103	T;T	0.44881	0.91;0.91	5.81	4.71	0.59529	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	D;D;D;D	0.77557	0.966;0.99;0.99;0.99	T	0.64305	-0.6439	10	0.87932	D	0	.	10.1652	0.42875	0.0:0.079:0.0:0.921	.	32;32;32;32	E7ENP4;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	E	32	ENSP00000370746:K32E;ENSP00000412566:K32E	ENSP00000303591:K32E	K	-	1	0	SNRPB	2396314	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.994000	0.88315	1.014000	0.39417	0.528000	0.53228	AAG		0.522	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2		
CST3	1471	broad.mit.edu	37	20	23616002	23616002	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:23616002G>A	ENST00000398411.1	-	2	328	c.246C>T	c.(244-246)atC>atT	p.I82I	CST3_ENST00000376925.3_Silent_p.I82I|CST3_ENST00000398409.1_Silent_p.I82I			P01034	CYTC_HUMAN	cystatin C	82					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)	p.I82I(1)		large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCAGCTACGATCTACACAT	0.567																																					p.I82I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	20						.						110.0	84.0	93.0					20																	23616002		2203	4300	6503	23564002	SO:0001819	synonymous_variant	1471	exon2				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.246C>T	20.37:g.23616002G>A			23564002	NM_000099	B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	CCDS13158.1																																																																																				0.567	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099	
VSX1	30813	broad.mit.edu	37	20	25056898	25056898	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25056898C>A	ENST00000376709.4	-	5	1360	c.1097G>T	c.(1096-1098)tGa>tTa	p.*366L	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.*366L(1)		central_nervous_system(1)|large_intestine(3)|lung(2)	6						CTGTGGGTCTCATGTGGCTCC	0.537																																					p.X366L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G1097T	20						.						44.0	49.0	47.0					20																	25056898		2203	4300	6503	25004898	SO:0001578	stop_lost	30813	exon5			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.1097G>T	20.37:g.25056898C>A			25004898	NM_014588	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Nonstop_Mutation	SNP	ENST00000376709.4	37	CCDS13168.1	.	.	.	.	.	.	.	.	.	.	C	9.296	1.051802	0.19827	.	.	ENSG00000100987	ENST00000376709	.	.	.	4.35	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3872	0.32508	0.0:0.8882:0.0:0.1118	.	.	.	.	L	366	.	.	X	-	2	2	VSX1	25004898	0.022000	0.18835	0.109000	0.21407	0.020000	0.10135	0.184000	0.16939	2.254000	0.74563	0.655000	0.94253	TGA		0.537	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3		
ENTPD6	955	broad.mit.edu	37	20	25201875	25201875	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25201875T>C	ENST00000376652.4	+	11	1114	c.951T>C	c.(949-951)gaT>gaC	p.D317D	ENTPD6_ENST00000354989.5_Silent_p.D300D|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Silent_p.D316D			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	317					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)	p.D317D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CAGCTAAGGATGGAAAGGAGT	0.517																																					p.D300D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T900C	20						.						159.0	141.0	147.0					20																	25201875		2203	4300	6503	25149875	SO:0001819	synonymous_variant	955	exon10			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.951T>C	20.37:g.25201875T>C			25149875	NM_001114089	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.004|8.004	0.756135|0.756135	0.15846|0.15846	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417|ENST00000376666	.|.	.|.	.|.	5.6|5.6	-2.56|-2.56	0.06268|0.06268	.|.	.|.	.|.	.|.	.|.	T|T	0.17662|0.17662	0.0424|0.0424	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99995|0.99995	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26643|0.26643	-1.0097|-1.0097	4|4	.|.	.|.	.|.	-9.7144|-9.7144	0.2069|0.2069	0.00152|0.00152	0.2481:0.23:0.2559:0.266|0.2481:0.23:0.2559:0.266	.|.	.|.	.|.	.|.	T|R	238|141	.|.	.|.	M|W	+|+	2|1	0|0	ENTPD6|ENTPD6	25149875|25149875	0.999000|0.999000	0.42202|0.42202	0.088000|0.088000	0.20740|0.20740	0.935000|0.935000	0.57460|0.57460	0.429000|0.429000	0.21412|0.21412	-0.092000|-0.092000	0.12417|0.12417	0.454000|0.454000	0.30748|0.30748	ATG|TGG		0.517	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2		
NINL	22981	broad.mit.edu	37	20	25443036	25443036	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25443036G>A	ENST00000278886.6	-	20	3638	c.3565C>T	c.(3565-3567)Cgc>Tgc	p.R1189C	NINL_ENST00000422516.1_Missense_Mutation_p.R840C	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1189					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1189C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGCCCACTGCGAACCACCTCC	0.617																																					p.R1189C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3565T	20						.						97.0	74.0	82.0					20																	25443036		2203	4300	6503	25391036	SO:0001583	missense	22981	exon20				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3565C>T	20.37:g.25443036G>A	ENSP00000278886:p.Arg1189Cys		25391036	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.646|9.646	1.140305|1.140305	0.21205|0.21205	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.34667|.	3.38;1.35|.	4.89|4.89	-7.0|-7.0	0.01599|0.01599	.|.	2.186810|.	0.01520|.	N|.	0.018313|.	T|T	0.10937|0.10937	0.0267|0.0267	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.23583|0.23583	-1.0184|-1.0184	10|5	0.41790|.	T|.	0.15|.	1.2992|1.2992	4.5416|4.5416	0.12059|0.12059	0.4528:0.0914:0.3631:0.0926|0.4528:0.0914:0.3631:0.0926	.|.	840;1189|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	C|L	1189;840|141	ENSP00000278886:R1189C;ENSP00000410431:R840C|.	ENSP00000278886:R1189C|.	R|S	-|-	1|2	0|0	NINL|NINL	25391036|25391036	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.398000|-1.398000	0.02509|0.02509	-1.805000|-1.805000	0.01239|0.01239	-2.347000|-2.347000	0.00243|0.00243	CGC|TCG		0.617	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
NINL	22981	broad.mit.edu	37	20	25457525	25457525	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25457525G>A	ENST00000278886.6	-	17	2475	c.2402C>T	c.(2401-2403)tCg>tTg	p.S801L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	801					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.S801L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GAGGGCCAACGATACGCACAT	0.677																																					p.S801L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2402T	20						.						48.0	40.0	43.0					20																	25457525		2203	4300	6503	25405525	SO:0001583	missense	22981	exon17				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2402C>T	20.37:g.25457525G>A	ENSP00000278886:p.Ser801Leu		25405525	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	g	9.510	1.105531	0.20632	.	.	ENSG00000101004	ENST00000278886	T	0.34667	1.35	3.48	-0.0352	0.13893	.	2.445680	0.01324	N	0.011021	T	0.18002	0.0432	L	0.27053	0.805	0.09310	N	1	P	0.44260	0.83	B	0.27262	0.078	T	0.19943	-1.0290	10	0.21540	T	0.41	0.6603	2.9605	0.05890	0.2965:0.2398:0.4637:0.0	.	801	Q9Y2I6	NINL_HUMAN	L	801	ENSP00000278886:S801L	ENSP00000278886:S801L	S	-	2	0	NINL	25405525	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.157000	0.10085	0.181000	0.19994	-0.355000	0.07637	TCG		0.677	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
TMC2	117532	broad.mit.edu	37	20	2596830	2596830	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2596830C>A	ENST00000358864.1	+	15	1935	c.1920C>A	c.(1918-1920)atC>atA	p.I640I	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	640					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.I640I(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGTTTGATCTTCAACCAAG	0.433																																					p.I640I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1920A	20						.						214.0	181.0	192.0					20																	2596830		2203	4300	6503	2544830	SO:0001819	synonymous_variant	117532	exon15			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1920C>A	20.37:g.2596830C>A			2544830	NM_080751	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	CCDS13029.2																																																																																				0.433	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2		
NOP56	10528	broad.mit.edu	37	20	2637782	2637782	+	Missense_Mutation	SNP	G	G	A	rs143140440		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2637782G>A	ENST00000329276.5	+	11	1853	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	446	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.R446H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GAGAAGAAACGCTTAAAGAAG	0.512																																					p.R446H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	20						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	78.0	78.0		1337	4.8	1.0	20	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOP56	NM_006392.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	446/595	2637782	2,13004	2203	4300	6503	2585782	SO:0001583	missense	10528	exon11			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1337G>A	20.37:g.2637782G>A	ENSP00000370589:p.Arg446His		2585782	NM_006392	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.769168|2.769168	0.49680|0.49680	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000101361|ENSG00000101361	ENST00000415272|ENST00000329276;ENST00000381169	.|T	.|0.47177	.|0.85	5.71|5.71	4.75|4.75	0.60458|0.60458	.|.	.|0.052450	.|0.64402	.|D	.|0.000001	T|T	0.46229|0.46229	0.1382|0.1382	L|L	0.34521|0.34521	1.04|1.04	0.46356|0.46356	D|D	0.999001|0.999001	.|D;D	.|0.59767	.|0.964;0.986	.|B;P	.|0.50791	.|0.215;0.65	T|T	0.47086|0.47086	-0.9144|-0.9144	5|10	.|0.56958	.|D	.|0.05	-3.4286|-3.4286	12.4334|12.4334	0.55586|0.55586	0.0:0.0:0.8323:0.1677|0.0:0.0:0.8323:0.1677	.|.	.|193;446	.|E9PDI8;O00567	.|.;NOP56_HUMAN	T|H	187|446;193	.|ENSP00000370589:R446H	.|ENSP00000370589:R446H	A|R	+|+	1|2	0|0	NOP56|NOP56	2585782|2585782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.179000|2.179000	0.42528|0.42528	1.541000|1.541000	0.49316|0.49316	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.512	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392	
NOP56	10528	broad.mit.edu	37	20	2638841	2638841	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2638841C>A	ENST00000329276.5	+	12	2202	c.1686C>A	c.(1684-1686)ttC>ttA	p.F562L	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	562	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.F562L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AGAGGAAATTCTCCAAAGAGG	0.498																																					p.F562L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1686A	20						.						13.0	14.0	14.0					20																	2638841		2196	4299	6495	2586841	SO:0001583	missense	10528	exon12			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1686C>A	20.37:g.2638841C>A	ENSP00000370589:p.Phe562Leu		2586841	NM_006392	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.770	0.707293	0.15239	.	.	ENSG00000101361	ENST00000329276	T	0.56444	0.46	5.07	-6.96	0.01622	.	1.505710	0.03166	N	0.170076	T	0.25975	0.0633	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17410	-1.0370	10	0.12430	T	0.62	0.2929	7.2685	0.26244	0.0:0.2517:0.3975:0.3508	.	562	O00567	NOP56_HUMAN	L	562	ENSP00000370589:F562L	ENSP00000370589:F562L	F	+	3	2	NOP56	2586841	0.000000	0.05858	0.022000	0.16811	0.443000	0.32047	-1.755000	0.01814	-1.329000	0.02258	-0.208000	0.12717	TTC		0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392	
NOP56	10528	broad.mit.edu	37	20	2638897	2638897	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2638897C>T	ENST00000329276.5	+	12	2258	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	581	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.S581F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGAGCAGCTCCAAGAAGAAG	0.507																																					p.S581F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1742T	20						.						7.0	9.0	9.0					20																	2638897		2125	4241	6366	2586897	SO:0001583	missense	10528	exon12			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1742C>T	20.37:g.2638897C>T	ENSP00000370589:p.Ser581Phe		2586897	NM_006392	Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637642	0.67130	.	.	ENSG00000101361	ENST00000329276	T	0.58940	0.3	5.27	5.27	0.74061	.	2.465540	0.01080	N	0.004972	T	0.51941	0.1704	N	0.14661	0.345	0.26380	N	0.976757	B	0.26258	0.145	B	0.31016	0.123	T	0.48917	-0.8992	10	0.87932	D	0	1.337	14.6769	0.68986	0.0:1.0:0.0:0.0	.	581	O00567	NOP56_HUMAN	F	581	ENSP00000370589:S581F	ENSP00000370589:S581F	S	+	2	0	NOP56	2586897	0.185000	0.23213	0.576000	0.28549	0.769000	0.43574	1.642000	0.37207	2.932000	0.99384	0.644000	0.83932	TCC		0.507	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392	
CPXM1	56265	broad.mit.edu	37	20	2775011	2775011	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2775011C>T	ENST00000380605.2	-	14	2094	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	677					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G677D(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAATGGTAGCCCTCGGCACT	0.597																																					p.G603D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1808A	20						.						60.0	58.0	58.0					20																	2775011		2203	4300	6503	2723011	SO:0001583	missense	56265	exon14			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2030G>A	20.37:g.2775011C>T	ENSP00000369979:p.Gly677Asp		2723011	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973722	0.92919	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.61742	0.08	5.12	5.12	0.69794	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	D	0.82531	0.5057	H	0.94734	3.575	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	D	0.86812	0.1999	10	0.72032	D	0.01	-26.6541	16.4323	0.83853	0.0:1.0:0.0:0.0	.	677	Q96SM3	CPXM1_HUMAN	D	677;373	ENSP00000369979:G677D	ENSP00000369979:G677D	G	-	2	0	CPXM1	2723011	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.536000	0.82023	2.821000	0.97095	0.651000	0.88453	GGC		0.597	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
VPS16	64601	broad.mit.edu	37	20	2841680	2841680	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:2841680G>A	ENST00000380445.3	+	7	767	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	VPS16_ENST00000380469.3_Missense_Mutation_p.R232Q|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	232					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.R232Q(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TTCACCTACCGACACCTGGCA	0.587																																					p.R232Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	20						.						128.0	118.0	122.0					20																	2841680		2203	4300	6503	2789680	SO:0001583	missense	64601	exon7			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.695G>A	20.37:g.2841680G>A	ENSP00000369810:p.Arg232Gln		2789680	NM_080413	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061124	0.55432	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.45668	0.89;0.89	5.82	4.87	0.63330	Vps16, N-terminal (1);	0.064498	0.64402	D	0.000004	T	0.39784	0.1091	L	0.35644	1.08	0.80722	D	1	P;D	0.64830	0.953;0.994	B;P	0.53450	0.199;0.726	T	0.17837	-1.0356	10	0.18276	T	0.48	-5.3516	7.7451	0.28864	0.081:0.0:0.7555:0.1634	.	232;232	Q9H269-2;Q9H269	.;VPS16_HUMAN	Q	232;232;114;114	ENSP00000369810:R232Q;ENSP00000369836:R232Q	ENSP00000369810:R232Q	R	+	2	0	VPS16	2789680	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.600000	0.67599	1.464000	0.47987	0.467000	0.42956	CGA		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
NINL	22981	broad.mit.edu	37	20	25462682	25462682	+	Missense_Mutation	SNP	G	G	A	rs142777399		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:25462682G>A	ENST00000278886.6	-	14	1805	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	NINL_ENST00000422516.1_Missense_Mutation_p.R578W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	578					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R578W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTGGGCAGCCGCGCCCACAGG	0.682																																					p.R578W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1732T	20						.	G	TRP/ARG	0,4406		0,0,2203	42.0	46.0	44.0		1732	3.8	0.0	20	dbSNP_134	44	1,8593	1.2+/-3.3	0,1,4296	no	missense	NINL	NM_025176.4	101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	578/1383	25462682	1,12999	2203	4297	6500	25410682	SO:0001583	missense	22981	exon14				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1732C>T	20.37:g.25462682G>A	ENSP00000278886:p.Arg578Trp		25410682	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382077	0.24944	0.0	1.16E-4	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.35048	1.61;1.33	4.73	3.77	0.43336	.	0.801057	0.11241	N	0.584667	T	0.33147	0.0853	L	0.44542	1.39	0.09310	N	1	B;B	0.21381	0.055;0.036	B;B	0.12156	0.007;0.003	T	0.28902	-1.0029	10	0.87932	D	0	-13.6426	12.3268	0.55015	0.0845:0.0:0.9155:0.0	.	578;578	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	578	ENSP00000278886:R578W;ENSP00000410431:R578W	ENSP00000278886:R578W	R	-	1	2	NINL	25410682	0.593000	0.26840	0.001000	0.08648	0.242000	0.25591	1.919000	0.40015	1.207000	0.43291	0.555000	0.69702	CGG		0.682	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
DEFB116	245930	broad.mit.edu	37	20	29891068	29891068	+	Missense_Mutation	SNP	C	C	T	rs181424547		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:29891068C>T	ENST00000400549.1	-	2	255	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	86					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D86N(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGTTAGAGTCGTAATCCTCC	0.373																																					p.D86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	20						.	C	ASN/ASP	0,3716		0,0,1858	286.0	260.0	268.0		256	-2.2	0.0	20		268	2,8206		0,2,4102	no	missense	DEFB116	NM_001037731.1	23	0,2,5960	TT,TC,CC		0.0244,0.0,0.0168	benign	86/103	29891068	2,11922	1858	4104	5962	29354729	SO:0001583	missense	245930	exon2			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.256G>A	20.37:g.29891068C>T	ENSP00000383396:p.Asp86Asn		29354729	NM_001037731		Missense_Mutation	SNP	ENST00000400549.1	37	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	C	6.071	0.381348	0.11466	0.0	2.44E-4	ENSG00000215545	ENST00000400549	T	0.20200	2.09	3.61	-2.19	0.07015	.	.	.	.	.	T	0.11623	0.0283	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.34403	-0.9830	9	0.24483	T	0.36	.	7.9397	0.29950	0.0:0.3474:0.0:0.6526	.	86	Q30KQ4	DB116_HUMAN	N	86	ENSP00000383396:D86N	ENSP00000383396:D86N	D	-	1	0	DEFB116	29354729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.427000	0.06999	-0.410000	0.07542	0.655000	0.94253	GAC		0.373	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731	
REM1	28954	broad.mit.edu	37	20	30070143	30070143	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30070143C>T	ENST00000201979.2	+	4	770	c.477C>T	c.(475-477)atC>atT	p.I159I		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	159					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.I159I(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCTATGTCATCGTATACTCCA	0.597																																					p.I159I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	20						.						90.0	82.0	85.0					20																	30070143		2203	4300	6503	29533804	SO:0001819	synonymous_variant	28954	exon4			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.477C>T	20.37:g.30070143C>T			29533804	NM_014012	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	ENST00000201979.2	37	CCDS13181.1																																																																																				0.597	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
REM1	28954	broad.mit.edu	37	20	30070204	30070204	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30070204C>T	ENST00000201979.2	+	4	831	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	180					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.R180W(1)|p.R180R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATCCAGCTGCGGCGCACACA	0.607																																					p.R180W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C538T	20						.						92.0	81.0	85.0					20																	30070204		2203	4300	6503	29533865	SO:0001583	missense	28954	exon4			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.538C>T	20.37:g.30070204C>T	ENSP00000201979:p.Arg180Trp		29533865	NM_014012	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995929	0.74703	.	.	ENSG00000088320	ENST00000201979	T	0.80566	-1.39	5.01	2.98	0.34508	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89392	0.6702	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89663	0.3878	10	0.87932	D	0	.	11.9775	0.53100	0.4709:0.5291:0.0:0.0	.	180	O75628	REM1_HUMAN	W	180	ENSP00000201979:R180W	ENSP00000201979:R180W	R	+	1	2	REM1	29533865	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.835000	0.39181	0.602000	0.29896	0.563000	0.77884	CGG		0.607	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
COX4I2	84701	broad.mit.edu	37	20	30231305	30231305	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30231305G>A	ENST00000376075.3	+	4	421	c.346G>A	c.(346-348)Gca>Aca	p.A116T	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	116					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)	p.A116T(1)		breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CATTGGATTCGCAGCTCTGGT	0.557																																					p.A116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	20						.						204.0	166.0	179.0					20																	30231305		2203	4300	6503	29694966	SO:0001583	missense	84701	exon4			AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.346G>A	20.37:g.30231305G>A	ENSP00000365243:p.Ala116Thr		29694966	NM_032609	Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	G	0.943	-0.708995	0.03230	.	.	ENSG00000131055	ENST00000376075	T	0.53423	0.62	4.97	2.65	0.31530	.	0.060906	0.64402	N	0.000005	T	0.12475	0.0303	N	0.00707	-1.245	0.30199	N	0.798826	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.02654	T	1	-11.2899	6.7193	0.23321	0.8306:0.0:0.1694:0.0	.	116	Q96KJ9	COX42_HUMAN	T	116	ENSP00000365243:A116T	ENSP00000365243:A116T	A	+	1	0	COX4I2	29694966	0.996000	0.38824	0.985000	0.45067	0.407000	0.30961	3.004000	0.49513	0.385000	0.24970	-0.424000	0.05967	GCA		0.557	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609	
TPX2	22974	broad.mit.edu	37	20	30347927	30347927	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30347927A>T	ENST00000300403.6	+	4	702	c.174A>T	c.(172-174)aaA>aaT	p.K58N	TPX2_ENST00000340513.4_Missense_Mutation_p.K58N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	58					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.K58N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTCAGGGCAAAACTCCTTTGA	0.413																																					p.K58N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A174T	20						.						127.0	130.0	129.0					20																	30347927		2203	4300	6503	29811588	SO:0001583	missense	22974	exon4			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.174A>T	20.37:g.30347927A>T	ENSP00000300403:p.Lys58Asn		29811588	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839181	0.51057	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32988	1.43	4.95	0.345	0.16011	Aurora-A binding (1);	0.362480	0.26875	N	0.022049	T	0.30166	0.0756	N	0.24115	0.695	0.09310	N	1	D;P	0.62365	0.991;0.684	P;B	0.62089	0.898;0.419	T	0.10894	-1.0610	10	0.36615	T	0.2	-8.2154	6.9812	0.24704	0.5708:0.0:0.4292:0.0	.	58;58	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	58	ENSP00000341145:K58N	ENSP00000300403:K58N	K	+	3	2	TPX2	29811588	0.993000	0.37304	0.019000	0.16419	0.948000	0.59901	0.674000	0.25218	0.143000	0.18926	0.482000	0.46254	AAA		0.413	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
TTLL9	164395	broad.mit.edu	37	20	30458989	30458989	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30458989G>T	ENST00000375938.4	+	2	313	c.60G>T	c.(58-60)aaG>aaT	p.K20N	TTLL9_ENST00000375921.2_5'UTR|DUSP15_ENST00000375966.4_5'Flank|DUSP15_ENST00000398084.2_5'Flank|TTLL9_ENST00000310998.4_5'UTR|DUSP15_ENST00000493115.1_5'Flank|DUSP15_ENST00000398083.1_5'Flank|TTLL9_ENST00000535842.1_Missense_Mutation_p.K20N|DUSP15_ENST00000339738.5_5'Flank|DUSP15_ENST00000486996.1_5'Flank|DUSP15_ENST00000278979.3_5'Flank			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	20					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.K20N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGTGCCCCAAGAAATTACAGG	0.532																																					p.K20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G60T	20						.						139.0	140.0	139.0					20																	30458989		1879	4118	5997	29922650	SO:0001583	missense	164395	exon2			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.60G>T	20.37:g.30458989G>T	ENSP00000365105:p.Lys20Asn		29922650	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233546	0.22626	.	.	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03745	3.82;3.82	3.68	1.69	0.24217	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.49194	-0.8965	9	0.19147	T	0.46	.	4.1416	0.10196	0.124:0.0:0.6237:0.2523	.	20	Q3SXZ7	TTLL9_HUMAN	N	20	ENSP00000365105:K20N;ENSP00000442515:K20N	ENSP00000365105:K20N	K	+	3	2	TTLL9	29922650	0.003000	0.15002	0.001000	0.08648	0.016000	0.09150	0.556000	0.23438	0.512000	0.28257	0.491000	0.48974	AAG		0.532	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
TTLL9	164395	broad.mit.edu	37	20	30522647	30522647	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30522647C>T	ENST00000375938.4	+	12	1213	c.960C>T	c.(958-960)ttC>ttT	p.F320F	TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000310998.4_Silent_p.F285F|TTLL9_ENST00000375922.4_Silent_p.F262F|TTLL9_ENST00000535842.1_Silent_p.F320F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	320	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.F309F(1)|p.F320F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCACTGCTTCGAGCTGTACG	0.547																																					p.F320F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C960T	20						.						119.0	119.0	119.0					20																	30522647		2091	4218	6309	29986308	SO:0001819	synonymous_variant	164395	exon12			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.960C>T	20.37:g.30522647C>T			29986308	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Silent	SNP	ENST00000375938.4	37	CCDS42863.1																																																																																				0.547	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
TTLL9	164395	broad.mit.edu	37	20	30527047	30527047	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30527047C>A	ENST00000375938.4	+	14	1474	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000535842.1_Missense_Mutation_p.N407K			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	407					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.N407K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAATGGGAAACTTTGTGACCA	0.587																																					p.N407K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1221A	20						.						66.0	74.0	72.0					20																	30527047		2003	4176	6179	29990708	SO:0001583	missense	164395	exon14			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1221C>A	20.37:g.30527047C>A	ENSP00000365105:p.Asn407Lys		29990708	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185107	0.38609	.	.	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03580	3.88;3.88	5.88	4.94	0.65067	.	1.024030	0.07700	N	0.940258	T	0.02494	0.0076	N	0.17474	0.49	0.80722	D	1	B;P	0.40000	0.062;0.698	B;B	0.29862	0.021;0.108	T	0.50964	-0.8765	10	0.07482	T	0.82	.	12.2334	0.54500	0.0:0.9209:0.0:0.0791	.	407;309	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	K	407	ENSP00000365105:N407K;ENSP00000442515:N407K	ENSP00000365105:N407K	N	+	3	2	TTLL9	29990708	0.994000	0.37717	0.997000	0.53966	0.849000	0.48306	1.306000	0.33505	1.502000	0.48669	0.561000	0.74099	AAC		0.587	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
TM9SF4	9777	broad.mit.edu	37	20	30745656	30745656	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:30745656C>T	ENST00000398022.2	+	14	1624	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	TM9SF4_ENST00000217315.5_Silent_p.L446L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	463						integral component of membrane (GO:0016021)		p.L446L(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCTGCCCCTCGTCTACTTGG	0.607																																					p.L463L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	20						.						177.0	164.0	168.0					20																	30745656		2203	4300	6503	30209317	SO:0001819	synonymous_variant	9777	exon14			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1389C>T	20.37:g.30745656C>T			30209317	NM_014742	B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	CCDS13196.2																																																																																				0.607	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742	
UBOX5	22888	broad.mit.edu	37	20	3102194	3102194	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3102194C>A	ENST00000217173.2	-	3	1562	c.1091G>T	c.(1090-1092)aGg>aTg	p.R364M	UBOX5_ENST00000348031.2_Missense_Mutation_p.R364M|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.R364M(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTCTATCTTCCTTTTCTGAGA	0.517																																					p.R364M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091T	20						.						71.0	55.0	61.0					20																	3102194		2203	4300	6503	3050194	SO:0001583	missense	22888	exon3			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1091G>T	20.37:g.3102194C>A	ENSP00000217173:p.Arg364Met		3050194	NM_014948		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416316	0.62511	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.37058	1.38;1.22	5.43	5.43	0.79202	.	0.585491	0.17077	U	0.187959	T	0.53012	0.1770	L	0.34521	1.04	0.40614	D	0.9817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.56257	-0.8009	10	0.87932	D	0	-12.258	19.2596	0.93962	0.0:1.0:0.0:0.0	.	364;364;364	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	M	364	ENSP00000217173:R364M;ENSP00000311726:R364M	ENSP00000217173:R364M	R	-	2	0	UBOX5	3050194	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.891000	0.56227	2.543000	0.85770	0.655000	0.94253	AGG		0.517	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
UBOX5	22888	broad.mit.edu	37	20	3102535	3102535	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3102535C>A	ENST00000217173.2	-	3	1221	c.750G>T	c.(748-750)caG>caT	p.Q250H	UBOX5_ENST00000348031.2_Missense_Mutation_p.Q250H|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.Q250H(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CGGCCAGCTTCTGCAGGCTGG	0.607																																					p.Q250H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	20						.						42.0	41.0	41.0					20																	3102535		2203	4300	6503	3050535	SO:0001583	missense	22888	exon3			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.750G>T	20.37:g.3102535C>A	ENSP00000217173:p.Gln250His		3050535	NM_014948		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619731	0.28801	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.32272	1.46;1.46	5.42	3.5	0.40072	.	0.438978	0.18757	U	0.132014	T	0.19525	0.0469	L	0.27053	0.805	0.23459	N	0.997631	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.002;0.003;0.002	T	0.16188	-1.0411	10	0.44086	T	0.13	-2.5058	6.5425	0.22388	0.0:0.5885:0.2466:0.1648	.	250;250;250	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	H	250	ENSP00000217173:Q250H;ENSP00000311726:Q250H	ENSP00000217173:Q250H	Q	-	3	2	UBOX5	3050535	0.994000	0.37717	0.987000	0.45799	0.784000	0.44337	1.372000	0.34261	0.666000	0.31087	0.563000	0.77884	CAG		0.607	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
UBOX5	22888	broad.mit.edu	37	20	3102794	3102794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3102794G>T	ENST00000217173.2	-	3	962	c.491C>A	c.(490-492)gCt>gAt	p.A164D	UBOX5_ENST00000348031.2_Missense_Mutation_p.A164D|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.A164D(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AAGGGAAAGAGCCCCTTTATT	0.592																																					p.A164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491A	20						.						62.0	59.0	60.0					20																	3102794		2203	4300	6503	3050794	SO:0001583	missense	22888	exon3			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.491C>A	20.37:g.3102794G>T	ENSP00000217173:p.Ala164Asp		3050794	NM_014948		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267800	0.40095	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.34072	1.38;1.38	5.32	4.38	0.52667	.	0.215721	0.39544	U	0.001326	T	0.30198	0.0757	L	0.36672	1.1	0.23192	N	0.998143	B;B;B	0.29341	0.242;0.112;0.112	B;B;B	0.26416	0.034;0.069;0.034	T	0.27365	-1.0076	10	0.72032	D	0.01	-0.8402	13.9373	0.64032	0.0733:0.0:0.9267:0.0	.	164;164;164	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	D	164	ENSP00000217173:A164D;ENSP00000311726:A164D	ENSP00000217173:A164D	A	-	2	0	UBOX5	3050794	0.703000	0.27826	1.000000	0.80357	0.916000	0.54674	3.836000	0.55813	1.237000	0.43756	0.563000	0.77884	GCT		0.592	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
UBOX5	22888	broad.mit.edu	37	20	3103974	3103974	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3103974C>A	ENST00000217173.2	-	2	509	c.38G>T	c.(37-39)aGa>aTa	p.R13I	UBOX5_ENST00000348031.2_Missense_Mutation_p.R13I|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.R13I(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GCAGTGAATTCTTGGTCTGAA	0.353																																					p.R13I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38T	20						.						186.0	174.0	178.0					20																	3103974		2203	4300	6503	3051974	SO:0001583	missense	22888	exon2			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.38G>T	20.37:g.3103974C>A	ENSP00000217173:p.Arg13Ile		3051974	NM_014948		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467642	0.84533	.	.	ENSG00000185019	ENST00000217173;ENST00000348031;ENST00000449731	T;T;T	0.36878	1.23;1.23;1.23	5.69	5.69	0.88448	.	0.120519	0.56097	U	0.000037	T	0.63674	0.2531	M	0.73962	2.25	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.65742	-0.6094	10	0.87932	D	0	-6.931	19.8045	0.96525	0.0:1.0:0.0:0.0	.	13;13;13	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	I	13	ENSP00000217173:R13I;ENSP00000311726:R13I;ENSP00000404364:R13I	ENSP00000217173:R13I	R	-	2	0	UBOX5	3051974	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.204000	0.65180	2.676000	0.91093	0.655000	0.94253	AGA		0.353	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
ASXL1	171023	broad.mit.edu	37	20	31016150	31016150	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31016150G>A	ENST00000375687.4	+	6	820	c.396G>A	c.(394-396)tcG>tcA	p.S132S	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000306058.5_Silent_p.S127S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	132					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S132S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAACATCTTCGAACGCATCCT	0.488			"""F, N, Mis"""		"""MDS, CMML"""																																p.S132S			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G396A	20						.						221.0	203.0	209.0					20																	31016150		2203	4300	6503	30479811	SO:0001819	synonymous_variant	171023	exon5			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.396G>A	20.37:g.31016150G>A			30479811	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				0.488	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
DNMT3B	1789	broad.mit.edu	37	20	31368226	31368226	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31368226G>A	ENST00000328111.2	+	2	418	c.97G>A	c.(97-99)Gac>Aac	p.D33N	DNMT3B_ENST00000348286.2_Missense_Mutation_p.D33N|DNMT3B_ENST00000375623.4_Missense_Mutation_p.D33N|DNMT3B_ENST00000353855.2_Missense_Mutation_p.D33N|DNMT3B_ENST00000456297.2_Missense_Mutation_p.D33N|DNMT3B_ENST00000443239.3_Missense_Mutation_p.D33N|DNMT3B_ENST00000344505.4_Missense_Mutation_p.D33N|DNMT3B_ENST00000201963.3_Missense_Mutation_p.D45N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	33	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.D33N(1)|p.D45N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTCCTCCGACTCGCCCCC	0.642																																					p.D33N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G97A	20						.						33.0	35.0	34.0					20																	31368226		2203	4300	6503	30831887	SO:0001583	missense	1789	exon2				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.97G>A	20.37:g.31368226G>A	ENSP00000328547:p.Asp33Asn		30831887	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139254	0.37728	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.97976	-4.61;-4.61;-4.57;-4.64;-4.51;-4.46;-0.71;-4.62	4.39	2.21	0.28008	.	0.598323	0.16958	N	0.192607	D	0.93344	0.7878	N	0.24115	0.695	0.09310	N	0.999999	P;P;P;P;P;P	0.50710	0.509;0.776;0.733;0.848;0.683;0.938	B;B;B;B;B;B	0.43018	0.043;0.1;0.232;0.169;0.052;0.405	D	0.87804	0.2627	10	0.30078	T	0.28	-23.2374	8.3391	0.32232	0.0:0.1589:0.6577:0.1833	.	33;33;45;33;33;33	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	N	33;119;33;33;33;33;33;33;45	ENSP00000328547:D33N;ENSP00000313397:D33N;ENSP00000337764:D33N;ENSP00000403169:D33N;ENSP00000412305:D33N;ENSP00000345105:D33N;ENSP00000364774:D33N;ENSP00000201963:D45N	ENSP00000201963:D45N	D	+	1	0	DNMT3B	30831887	0.979000	0.34478	0.160000	0.22671	0.524000	0.34500	2.227000	0.42972	1.159000	0.42565	0.462000	0.41574	GAC		0.642	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
DNMT3B	1789	broad.mit.edu	37	20	31379489	31379489	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31379489G>A	ENST00000328111.2	+	8	1217	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	DNMT3B_ENST00000348286.2_Missense_Mutation_p.R299Q|DNMT3B_ENST00000375623.4_Missense_Mutation_p.R257Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R299Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R223Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R257Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R299Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R311Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	299					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R299Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTCCTATCGAAAAGCCATG	0.502																																					p.R299Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G896A	20						.						128.0	99.0	109.0					20																	31379489		2203	4300	6503	30843150	SO:0001583	missense	1789	exon8				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.896G>A	20.37:g.31379489G>A	ENSP00000328547:p.Arg299Gln		30843150	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528178	0.96446	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.82549	0.5061	M	0.70275	2.135	0.53688	D	0.999973	D;D;D;D;D;D	0.89917	0.997;0.994;0.994;0.999;0.994;1.0	P;P;B;P;B;P	0.61397	0.585;0.468;0.406;0.763;0.406;0.888	T	0.82579	-0.0387	10	0.54805	T	0.06	-35.0289	19.1516	0.93491	0.0:0.0:1.0:0.0	.	223;257;311;299;299;299	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	Q	299;385;299;299;257;223;299;257;311	ENSP00000328547:R299Q;ENSP00000313397:R299Q;ENSP00000337764:R299Q;ENSP00000403169:R257Q;ENSP00000412305:R223Q;ENSP00000345105:R299Q;ENSP00000364774:R257Q;ENSP00000201963:R311Q	ENSP00000201963:R311Q	R	+	2	0	DNMT3B	30843150	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.228000	0.65310	2.773000	0.95371	0.655000	0.94253	CGA		0.502	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
DNMT3B	1789	broad.mit.edu	37	20	31384645	31384645	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31384645C>A	ENST00000328111.2	+	13	1668	c.1347C>A	c.(1345-1347)ctC>ctA	p.L449L	DNMT3B_ENST00000348286.2_Silent_p.L429L|DNMT3B_ENST00000375623.4_Missense_Mutation_p.L332I|DNMT3B_ENST00000353855.2_Silent_p.L429L|DNMT3B_ENST00000456297.2_Silent_p.L353L|DNMT3B_ENST00000443239.3_Silent_p.L387L|DNMT3B_ENST00000344505.4_Silent_p.L429L|DNMT3B_ENST00000201963.3_Silent_p.L441L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	449	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.L449L(1)|p.L441L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACCCTCTCTTTGAGGGGG	0.557																																					p.L429L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1287A	20						.						87.0	89.0	89.0					20																	31384645		2203	4300	6503	30848306	SO:0001819	synonymous_variant	1789	exon12				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1347C>A	20.37:g.31384645C>A			30848306	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465496	0.43839	.	.	ENSG00000088305	ENST00000375623	T	0.68181	-0.31	4.88	-0.787	0.10943	.	0.000000	0.64402	D	0.000001	T	0.67078	0.2855	.	.	.	0.23936	N	0.996414	.	.	.	.	.	.	T	0.64521	-0.6388	7	0.87932	D	0	-25.7854	11.4838	0.50342	0.0:0.3794:0.4849:0.1357	.	.	.	.	I	332	ENSP00000364774:L332I	ENSP00000364774:L332I	L	+	1	0	DNMT3B	30848306	0.416000	0.25424	0.968000	0.41197	0.921000	0.55340	-0.496000	0.06436	-0.450000	0.07107	-0.795000	0.03280	CTT		0.557	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
BPIFB6	128859	broad.mit.edu	37	20	31619469	31619469	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31619469T>C	ENST00000349552.1	+	1	16	c.16T>C	c.(16-18)Tgc>Cgc	p.C6R		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	6						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.C6R(1)									GCGGATCCTGTGCCTGGCACT	0.642																																					p.C6R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T16C	20						.						36.0	28.0	31.0					20																	31619469		2203	4300	6503	31083130	SO:0001583	missense	128859	exon1			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.16T>C	20.37:g.31619469T>C	ENSP00000344929:p.Cys6Arg		31083130	NM_174897		Missense_Mutation	SNP	ENST00000349552.1	37	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	T	7.590	0.670595	0.14776	.	.	ENSG00000167104	ENST00000349552	T	0.01252	5.1	4.85	2.5	0.30297	.	0.703302	0.12534	N	0.460493	T	0.01661	0.0053	L	0.44542	1.39	0.30590	N	0.761597	P	0.37015	0.578	B	0.36186	0.219	T	0.39742	-0.9599	10	0.45353	T	0.12	.	5.6857	0.17801	0.1685:0.0:0.1759:0.6557	.	6	Q8NFQ5	BPIB6_HUMAN	R	6	ENSP00000344929:C6R	ENSP00000344929:C6R	C	+	1	0	BPIFB6	31083130	0.639000	0.27234	0.757000	0.31301	0.166000	0.22503	0.221000	0.17680	0.184000	0.20083	-0.429000	0.05907	TGC		0.642	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
BPIFB3	359710	broad.mit.edu	37	20	31656648	31656648	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31656648T>C	ENST00000375494.3	+	10	1018	c.1018T>C	c.(1018-1020)Ttc>Ctc	p.F340L		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	340					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.F340L(1)									ACTCCTACTGTTCCTGCGGGT	0.572																																					p.F340L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1018C	20						.						102.0	74.0	84.0					20																	31656648		2203	4300	6503	31120309	SO:0001583	missense	359710	exon10			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1018T>C	20.37:g.31656648T>C	ENSP00000364643:p.Phe340Leu		31120309	NM_182658	Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	T	5.777	0.327706	0.10956	.	.	ENSG00000186190	ENST00000375494	T	0.08193	3.12	4.25	1.81	0.25067	.	1.057110	0.07501	N	0.907244	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46652	-0.9176	10	0.11794	T	0.64	-1.3124	3.1464	0.06473	0.2075:0.1134:0.0:0.6791	.	340	P59826	BPIB3_HUMAN	L	340	ENSP00000364643:F340L	ENSP00000364643:F340L	F	+	1	0	BPIFB3	31120309	0.001000	0.12720	0.010000	0.14722	0.011000	0.07611	0.694000	0.25512	0.793000	0.33875	-0.326000	0.08463	TTC		0.572	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
BPIFA3	128861	broad.mit.edu	37	20	31805421	31805421	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31805421C>T	ENST00000375454.3	+	1	289	c.79C>T	c.(79-81)Cct>Tct	p.P27S	RP11-49G10.3_ENST00000419613.1_RNA|BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.P27S	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	27						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.P27S(1)									GCAGCCTTGGCCTGGCCTGGC	0.617																																					p.P27S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C79T	20						.						96.0	85.0	88.0					20																	31805421		2203	4300	6503	31269082	SO:0001583	missense	128861	exon1				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.79C>T	20.37:g.31805421C>T	ENSP00000364603:p.Pro27Ser		31269082	NM_178466	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	C	0.318	-0.963446	0.02249	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.32023	1.47;1.69	4.14	-2.22	0.06952	.	0.773311	0.11064	N	0.603622	T	0.14874	0.0359	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.20974	-1.0259	10	0.48119	T	0.1	-9.0E-4	5.2532	0.15532	0.0:0.5144:0.1513:0.3343	.	27;27	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	S	27	ENSP00000364603:P27S;ENSP00000364601:P27S	ENSP00000364601:P27S	P	+	1	0	BPIFA3	31269082	0.498000	0.26075	0.146000	0.22360	0.001000	0.01503	-0.483000	0.06536	-0.291000	0.09012	-1.170000	0.01741	CCT		0.617	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	
BPIFA1	51297	broad.mit.edu	37	20	31829239	31829239	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:31829239C>A	ENST00000354297.4	+	6	701	c.630C>A	c.(628-630)atC>atA	p.I210I	BPIFA1_ENST00000375413.4_Silent_p.I210I|BPIFA1_ENST00000375422.2_Silent_p.I210I	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	210					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.I210I(1)									TCACAGGGATCTTGAATAAAG	0.507																																					p.I210I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C630A	20						.						209.0	201.0	204.0					20																	31829239		2203	4300	6503	31292900	SO:0001819	synonymous_variant	51297	exon6			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.630C>A	20.37:g.31829239C>A			31292900	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	CCDS13217.1																																																																																				0.507	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
TRIB3	57761	broad.mit.edu	37	20	368760	368760	+	Nonsense_Mutation	SNP	C	C	T	rs150841542	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:368760C>T	ENST00000217233.3	+	2	659	c.106C>T	c.(106-108)Cga>Tga	p.R36*	TRIB3_ENST00000485293.1_3'UTR|TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R63*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	36	Interaction with DDIT3/CHOP.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.R36*(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GAAACGAGCTCGAAGTGGGCC	0.632																																					p.R36X	Melanoma(101;421 2374 19538)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C106T	20						.	C	stop/ARG	5,4401	9.9+/-24.2	0,5,2198	81.0	79.0	80.0		106	2.5	0.9	20	dbSNP_134	80	0,8600		0,0,4300	yes	stop-gained	TRIB3	NM_021158.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		36/359	368760	5,13001	2203	4300	6503	316760	SO:0001587	stop_gained	57761	exon2			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.106C>T	20.37:g.368760C>T	ENSP00000217233:p.Arg36*		316760	NM_021158	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Nonsense_Mutation	SNP	ENST00000217233.3	37	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949461	0.92660	0.001135	0.0	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	4.49	2.45	0.29901	.	0.276960	0.19290	N	0.117908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7288	7.4018	0.26969	0.1882:0.4736:0.3381:0.0	.	.	.	.	X	36;36;63	.	ENSP00000217233:R36X	R	+	1	2	TRIB3	316760	0.004000	0.15560	0.939000	0.37840	0.630000	0.37929	1.547000	0.36190	0.447000	0.26695	0.561000	0.74099	CGA		0.632	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158	
SLC4A11	83959	broad.mit.edu	37	20	3215517	3215517	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3215517C>A	ENST00000380056.3	-	2	207	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	SLC4A11_ENST00000539553.2_Missense_Mutation_p.D38Y|SLC4A11_ENST00000380059.3_Missense_Mutation_p.D81Y	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	54					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.D54Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCGAAGGTGTCATCTGTGTCA	0.557																																					p.D81Y	NSCLC(190;922 2139 10266 10292 38692)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241T	20						.						102.0	94.0	97.0					20																	3215517		2203	4300	6503	3163517	SO:0001583	missense	83959	exon3			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.160G>T	20.37:g.3215517C>A	ENSP00000369396:p.Asp54Tyr		3163517	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956424	0.34565	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.85088	-1.86;-1.86;-1.8;-1.94	4.55	3.59	0.41128	.	0.323511	0.30949	N	0.008546	T	0.82240	0.4994	L	0.60455	1.87	0.45718	D	0.998622	B;B;B	0.12630	0.005;0.006;0.001	B;B;B	0.14023	0.01;0.003;0.002	T	0.79155	-0.1920	10	0.87932	D	0	.	12.6927	0.56985	0.1665:0.8335:0.0:0.0	.	38;81;54	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Y	81;54;38;38	ENSP00000369399:D81Y;ENSP00000369396:D54Y;ENSP00000441370:D38Y;ENSP00000404271:D38Y	ENSP00000369396:D54Y	D	-	1	0	SLC4A11	3163517	0.223000	0.23663	0.262000	0.24481	0.893000	0.52053	1.672000	0.37523	0.883000	0.36040	0.655000	0.94253	GAC		0.557	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		
SLC4A11	83959	broad.mit.edu	37	20	3218200	3218200	+	Silent	SNP	G	G	A	rs35732230	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3218200G>A	ENST00000380056.3	-	1	173	c.126C>T	c.(124-126)ttC>ttT	p.F42F	SLC4A11_ENST00000539553.2_Silent_p.F26F|SLC4A11_ENST00000380059.3_Silent_p.F69F	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	42					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.F42F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TTGAATCCTCGAAGTATCCAT	0.562													A|||	4	0.000798722	0.003	0.0	5008	,	,		19005	0.0		0.0	False		,,,				2504	0.0				p.F69F	NSCLC(190;922 2139 10266 10292 38692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	20						.	A	,,	3,4403	825.9+/-416.6	0,3,2200	169.0	140.0	149.0		78,207,126	0.4	0.2	20	dbSNP_126	149	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A11	NM_001174089.1,NM_001174090.1,NM_032034.3	,,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,,	26/876,69/919,42/892	3218200	4,13002	2203	4300	6503	3166200	SO:0001819	synonymous_variant	83959	exon2			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.126C>T	20.37:g.3218200G>A			3166200	NM_001174090	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.562	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1		
SNTA1	6640	broad.mit.edu	37	20	32000579	32000579	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:32000579C>A	ENST00000217381.2	-	4	982	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	237	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)	p.E237D(1)		breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CCGAGCAGATCTCCAGATACC	0.587																																					p.E237D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G711T	20						.						33.0	23.0	26.0					20																	32000579		2203	4300	6503	31464240	SO:0001583	missense	6640	exon4			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.711G>T	20.37:g.32000579C>A	ENSP00000217381:p.Glu237Asp		31464240	NM_003098	A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.493667	0.84962	.	.	ENSG00000101400	ENST00000217381	D	0.81659	-1.52	5.08	5.08	0.68730	Pleckstrin homology domain (2);	0.121922	0.53938	D	0.000044	D	0.88228	0.6380	M	0.74881	2.28	0.80722	D	1	P;B	0.46064	0.872;0.336	D;B	0.64506	0.926;0.135	D	0.89072	0.3470	10	0.72032	D	0.01	-1.3506	12.5685	0.56323	0.0:0.9185:0.0:0.0815	.	237;237	B4DX40;Q13424	.;SNTA1_HUMAN	D	237	ENSP00000217381:E237D	ENSP00000217381:E237D	E	-	3	2	SNTA1	31464240	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.053000	0.41326	2.356000	0.79943	0.556000	0.70494	GAG		0.587	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	
C20orf194	25943	broad.mit.edu	37	20	3295716	3295716	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3295716G>T	ENST00000252032.9	-	20	1709	c.1642C>A	c.(1642-1644)Ctt>Att	p.L548I	C20orf194_ENST00000453730.2_Missense_Mutation_p.L286I|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	548								p.L548I(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTGGAATAAAGATATGCTCCT	0.408																																					p.L548I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1642A	20						.						143.0	141.0	142.0					20																	3295716		1890	4107	5997	3243716	SO:0001583	missense	25943	exon20			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1642C>A	20.37:g.3295716G>T	ENSP00000252032:p.Leu548Ile		3243716	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816115	0.32145	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34667	2.12;1.35	5.02	4.01	0.46588	.	0.273852	0.35615	N	0.003086	T	0.20659	0.0497	N	0.16656	0.425	0.38803	D	0.955249	B;B	0.14012	0.009;0.009	B;B	0.18561	0.022;0.013	T	0.08289	-1.0729	10	0.18276	T	0.48	.	10.3567	0.43969	0.0:0.0:0.6651:0.3349	.	287;548	Q0IIP3;Q5TEA3	.;CT194_HUMAN	I	548;286	ENSP00000252032:L548I;ENSP00000407229:L286I	ENSP00000252032:L548I	L	-	1	0	C20orf194	3243716	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	3.399000	0.52586	2.591000	0.87537	0.650000	0.86243	CTT		0.408	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
C20orf194	25943	broad.mit.edu	37	20	3321279	3321279	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3321279G>A	ENST00000252032.9	-	10	920	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	C20orf194_ENST00000453730.2_Missense_Mutation_p.R24W	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	285								p.R285W(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AATGGCTGCCGGTTAGGGCTA	0.463																																					p.R285W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C853T	20						.						80.0	78.0	78.0					20																	3321279		1886	4113	5999	3269279	SO:0001583	missense	25943	exon10			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.853C>T	20.37:g.3321279G>A	ENSP00000252032:p.Arg285Trp		3269279	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571622	0.45798	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.38240	2.0;1.15	5.79	3.57	0.40892	.	0.117980	0.53938	D	0.000045	T	0.56156	0.1966	M	0.62723	1.935	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.95	T	0.57768	-0.7754	10	0.87932	D	0	.	13.4982	0.61438	0.0:0.0:0.4724:0.5276	.	24;285	Q0IIP3;Q5TEA3	.;CT194_HUMAN	W	285;24	ENSP00000252032:R285W;ENSP00000407229:R24W	ENSP00000252032:R285W	R	-	1	2	C20orf194	3269279	1.000000	0.71417	0.996000	0.52242	0.363000	0.29612	1.168000	0.31859	0.511000	0.28236	-0.457000	0.05445	CGG		0.463	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
NECAB3	63941	broad.mit.edu	37	20	32258514	32258514	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:32258514C>A	ENST00000246190.6	-	3	294	c.239G>T	c.(238-240)aGc>aTc	p.S80I	NECAB3_ENST00000375238.4_Missense_Mutation_p.S80I	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	80					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S80I(1)		large_intestine(3)|lung(5)|skin(2)	10						ATCAATGCCGCTGAACAGTTC	0.577																																					p.S80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239T	20						.						65.0	68.0	67.0					20																	32258514		1967	4157	6124	31722175	SO:0001583	missense	63941	exon3			AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.239G>T	20.37:g.32258514C>A	ENSP00000246190:p.Ser80Ile		31722175	NM_031232	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268607	0.59540	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.10382	2.88;2.88;2.88	4.81	3.86	0.44501	EF-hand-like domain (1);	0.326534	0.33959	N	0.004388	T	0.22704	0.0548	M	0.62723	1.935	0.38660	D	0.952055	D;P;P	0.58970	0.984;0.715;0.708	P;B;B	0.59056	0.851;0.342;0.419	T	0.02115	-1.1211	10	0.72032	D	0.01	-19.4326	8.6614	0.34095	0.0:0.8203:0.0:0.1797	.	80;80;80	Q96P71-3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	I	80	ENSP00000364386:S80I;ENSP00000246190:S80I;ENSP00000392064:S80I	ENSP00000246190:S80I	S	-	2	0	NECAB3	31722175	0.629000	0.27146	0.899000	0.35326	0.881000	0.50899	1.052000	0.30429	1.023000	0.39654	0.462000	0.41574	AGC		0.577	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2		
NCOA6	23054	broad.mit.edu	37	20	33328554	33328554	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33328554T>C	ENST00000374796.2	-	12	8076	c.5506A>G	c.(5506-5508)Aca>Gca	p.T1836A	NCOA6_ENST00000359003.2_Missense_Mutation_p.T1836A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1836	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.T1836A(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGAGAGCCTGTAACTTTCTTA	0.507																																					p.T1836A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5506G	20						.						130.0	132.0	131.0					20																	33328554		2203	4300	6503	32792215	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5506A>G	20.37:g.33328554T>C	ENSP00000363929:p.Thr1836Ala		32792215	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046979	0.75846	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.27557	1.66;1.66	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.27053	0.805	0.49213	D	0.999761	D	0.69078	0.997	D	0.75020	0.985	T	0.34279	-0.9835	10	0.52906	T	0.07	-7.8358	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1836	Q14686	NCOA6_HUMAN	A	1836	ENSP00000363929:T1836A;ENSP00000351894:T1836A	ENSP00000351894:T1836A	T	-	1	0	NCOA6	32792215	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.330000	0.65899	2.371000	0.80710	0.533000	0.62120	ACA		0.507	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33328934	33328934	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33328934G>T	ENST00000374796.2	-	12	7696	c.5126C>A	c.(5125-5127)tCt>tAt	p.S1709Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1709Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1709	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1709Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGAGCAGAAGAAAATTTTAT	0.522																																					p.S1709Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5126A	20						.						110.0	117.0	115.0					20																	33328934		2203	4300	6503	32792595	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5126C>A	20.37:g.33328934G>T	ENSP00000363929:p.Ser1709Tyr		32792595	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560720	0.65538	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.34859	1.34;1.34	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	T	0.40423	0.1116	L	0.27053	0.805	0.49213	D	0.999762	D	0.56521	0.976	P	0.51016	0.656	T	0.30387	-0.9980	10	0.87932	D	0	-10.4838	19.4628	0.94924	0.0:0.0:1.0:0.0	.	1709	Q14686	NCOA6_HUMAN	Y	1709	ENSP00000363929:S1709Y;ENSP00000351894:S1709Y	ENSP00000351894:S1709Y	S	-	2	0	NCOA6	32792595	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	8.415000	0.90241	2.837000	0.97791	0.655000	0.94253	TCT		0.522	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33329436	33329436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33329436C>A	ENST00000374796.2	-	12	7194	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.E1542*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1542					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.E1542*(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTAGAAGGTTCTTTAGAAGAA	0.453																																					p.E1542X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4624T	20						.						136.0	136.0	136.0					20																	33329436		2203	4300	6503	32793097	SO:0001587	stop_gained	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4624G>T	20.37:g.33329436C>A	ENSP00000363929:p.Glu1542*		32793097	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	57	27.387461	0.99971	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.55	5.55	0.83447	.	0.138727	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.578	19.7069	0.96076	0.0:1.0:0.0:0.0	.	.	.	.	X	1542	.	ENSP00000351894:E1542X	E	-	1	0	NCOA6	32793097	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.754000	0.55189	2.894000	0.99253	0.591000	0.81541	GAA		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33330140	33330140	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33330140G>T	ENST00000374796.2	-	12	6490	c.3920C>A	c.(3919-3921)tCt>tAt	p.S1307Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1307Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1307	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.S1307Y(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACTACCACAGAATCTAATTT	0.458																																					p.S1307Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3920A	20						.						121.0	125.0	124.0					20																	33330140		2203	4300	6503	32793801	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3920C>A	20.37:g.33330140G>T	ENSP00000363929:p.Ser1307Tyr		32793801	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779968	0.49891	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30182	1.54;1.54	5.98	5.98	0.97165	.	0.174016	0.40144	N	0.001163	T	0.31482	0.0798	N	0.19112	0.55	0.44736	D	0.997732	D	0.56521	0.976	P	0.51016	0.656	T	0.03651	-1.1016	10	0.66056	D	0.02	-11.4843	15.2611	0.73625	0.0:0.1495:0.8505:0.0	.	1307	Q14686	NCOA6_HUMAN	Y	1307	ENSP00000363929:S1307Y;ENSP00000351894:S1307Y	ENSP00000351894:S1307Y	S	-	2	0	NCOA6	32793801	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.653000	0.46691	2.847000	0.97988	0.591000	0.81541	TCT		0.458	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33330703	33330703	+	Missense_Mutation	SNP	C	C	A	rs75120685		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33330703C>A	ENST00000374796.2	-	12	5927	c.3357G>T	c.(3355-3357)caG>caT	p.Q1119H	NCOA6_ENST00000359003.2_Missense_Mutation_p.Q1119H			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1119	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1119H(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGGAAGGATTCTGCGGGCTCT	0.537																																					p.Q1119H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3357T	20						.						97.0	96.0	96.0					20																	33330703		2203	4300	6503	32794364	SO:0001583	missense	23054	exon11			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3357G>T	20.37:g.33330703C>A	ENSP00000363929:p.Gln1119His		32794364	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224142	0.58668	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26957	1.7;1.7	6.06	5.12	0.69794	.	0.173554	0.41294	D	0.000909	T	0.37404	0.1002	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	T	0.22103	-1.0226	10	0.66056	D	0.02	-3.5051	15.1122	0.72368	0.0:0.9328:0.0:0.0672	.	1119	Q14686	NCOA6_HUMAN	H	1119	ENSP00000363929:Q1119H;ENSP00000351894:Q1119H	ENSP00000351894:Q1119H	Q	-	3	2	NCOA6	32794364	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	2.346000	0.44027	1.579000	0.49836	0.655000	0.94253	CAG		0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
GGT7	2686	broad.mit.edu	37	20	33449333	33449333	+	Missense_Mutation	SNP	C	C	T	rs199747158		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33449333C>T	ENST00000336431.5	-	4	634	c.590G>A	c.(589-591)cGa>cAa	p.R197Q		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	197					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.R197Q(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCTCTCATTTCGTCGGATGTC	0.562																																					p.R197Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	20						.	C	GLN/ARG	0,4406		0,0,2203	74.0	70.0	71.0		590	4.8	0.3	20		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GGT7	NM_178026.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	197/663	33449333	1,13005	2203	4300	6503	32912994	SO:0001583	missense	2686	exon4			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.590G>A	20.37:g.33449333C>T	ENSP00000338964:p.Arg197Gln		32912994	NM_178026	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013360	0.35511	0.0	1.16E-4	ENSG00000131067	ENST00000336431	T	0.21543	2.0	5.74	4.81	0.61882	.	0.239802	0.39274	N	0.001408	T	0.11153	0.0272	N	0.20807	0.61	0.21719	N	0.999578	B;B;B	0.19935	0.04;0.016;0.008	B;B;B	0.12837	0.005;0.008;0.005	T	0.30416	-0.9979	10	0.14252	T	0.57	-22.091	6.8106	0.23802	0.0:0.7062:0.0:0.2938	.	197;197;197	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	Q	197	ENSP00000338964:R197Q	ENSP00000338964:R197Q	R	-	2	0	GGT7	32912994	0.885000	0.30320	0.322000	0.25334	0.987000	0.75469	2.920000	0.48844	1.430000	0.47334	0.655000	0.94253	CGA		0.562	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026	
ACSS2	55902	broad.mit.edu	37	20	33509399	33509399	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33509399C>A	ENST00000360596.2	+	12	1674	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	ACSS2_ENST00000253382.5_Missense_Mutation_p.S501Y|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.S438Y	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	488					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.S488Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAACCCGGTTCTGCTGTGAGT	0.537																																					p.S488Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1463A	20						.						156.0	145.0	149.0					20																	33509399		2203	4300	6503	32973060	SO:0001583	missense	55902	exon12			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1463C>A	20.37:g.33509399C>A	ENSP00000353804:p.Ser488Tyr		32973060	NM_018677	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506575	0.85282	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.52057	0.68;0.68;0.68	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.109014	0.64402	D	0.000003	T	0.75049	0.3797	M	0.90425	3.115	0.80722	D	1	D;D	0.65815	0.995;0.987	D;D	0.67725	0.953;0.926	T	0.79923	-0.1598	10	0.87932	D	0	-17.1668	19.4079	0.94655	0.0:1.0:0.0:0.0	.	501;488	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Y	438;488;486;196;501	ENSP00000337190:S438Y;ENSP00000353804:S488Y;ENSP00000253382:S501Y	ENSP00000253382:S501Y	S	+	2	0	ACSS2	32973060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.536000	0.82023	2.819000	0.97034	0.650000	0.86243	TCT		0.537	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	
MYH7B	57644	broad.mit.edu	37	20	33577698	33577698	+	Silent	SNP	C	C	T	rs369651613		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33577698C>T	ENST00000262873.7	+	18	1961	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	581	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F623F(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCCCACTTCGAGGTGGTCC	0.657																																					p.F623F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	20						.	C		1,4295		0,1,2147	44.0	49.0	47.0		1869	-0.3	1.0	20		47	0,8540		0,0,4270	no	coding-synonymous	MYH7B	NM_020884.3		0,1,6417	TT,TC,CC		0.0,0.0233,0.0078		623/1984	33577698	1,12835	2148	4270	6418	33041359	SO:0001819	synonymous_variant	57644	exon20			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1869C>T	20.37:g.33577698C>T			33041359	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	CCDS42869.1																																																																																				0.657	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
MYH7B	57644	broad.mit.edu	37	20	33578085	33578085	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33578085C>T	ENST00000262873.7	+	20	2167	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	650	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S692L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGCAGCATCGTTCCAGACG	0.617																																					p.S692L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2075T	20						.						93.0	98.0	96.0					20																	33578085		2203	4300	6503	33041746	SO:0001583	missense	57644	exon22			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2075C>T	20.37:g.33578085C>T	ENSP00000262873:p.Ser692Leu		33041746	NM_020884	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692504	0.88735	.	.	ENSG00000078814	ENST00000262873	D	0.87650	-2.28	4.39	4.39	0.52855	Myosin head, motor domain (2);	0.000000	0.31922	N	0.006860	D	0.94814	0.8325	M	0.90922	3.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95975	0.8973	10	0.87932	D	0	.	17.5203	0.87784	0.0:1.0:0.0:0.0	.	650	A7E2Y1	MYH7B_HUMAN	L	692	ENSP00000262873:S692L	ENSP00000262873:S692L	S	+	2	0	MYH7B	33041746	1.000000	0.71417	0.231000	0.23993	0.882000	0.50991	5.923000	0.70045	2.445000	0.82738	0.511000	0.50034	TCG		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
TRPC4AP	26133	broad.mit.edu	37	20	33609059	33609059	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33609059C>T	ENST00000252015.2	-	9	1241	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	TRPC4AP_ENST00000432634.2_Silent_p.E345E|TRPC4AP_ENST00000539834.1_Intron|TRPC4AP_ENST00000451813.2_Silent_p.E376E			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	384	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.E384E(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTACATGATCTCATGCATAA	0.577																																					p.E376E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1128A	20						.						126.0	101.0	109.0					20																	33609059		2203	4300	6503	33072720	SO:0001819	synonymous_variant	26133	exon9			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1152G>A	20.37:g.33609059C>T			33072720	NM_199368	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	CCDS13246.1																																																																																				0.577	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
TRPC4AP	26133	broad.mit.edu	37	20	33657149	33657149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:33657149C>A	ENST00000252015.2	-	3	453	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Nonsense_Mutation_p.E122*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	122	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.E122*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TAAGTGGTTTCTTGGGTAAGT	0.328																																					p.E122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G364T	20						.						129.0	132.0	131.0					20																	33657149		2203	4300	6503	33120810	SO:0001587	stop_gained	26133	exon3			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.364G>T	20.37:g.33657149C>A	ENSP00000252015:p.Glu122*		33120810	NM_199368	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Nonsense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488151	0.96323	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000541994	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.3348	0.90283	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;107	.	ENSP00000252015:E122X	E	-	1	0	TRPC4AP	33120810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.854000	0.75440	2.868000	0.98415	0.555000	0.69702	GAA		0.328	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
GDF5	8200	broad.mit.edu	37	20	34022112	34022112	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34022112C>A	ENST00000374372.1	-	4	1604	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	GDF5_ENST00000374369.3_Missense_Mutation_p.K367N|GDF5OS_ENST00000374375.1_Silent_p.V52V			P43026	GDF5_HUMAN	growth differentiation factor 5	367					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.K367N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CATACACGGTCTTATCGTCCT	0.597																																					p.K367N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1101T	20						.						93.0	93.0	93.0					20																	34022112		2203	4300	6503	33485526	SO:0001583	missense	8200	exon2			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1101G>T	20.37:g.34022112C>A	ENSP00000363492:p.Lys367Asn		33485526	NM_000557	E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043370	0.36085	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.80909	-1.43;-1.43	4.44	4.44	0.53790	.	0.129237	0.49916	D	0.000128	T	0.65133	0.2662	N	0.19112	0.55	0.46823	D	0.999213	P;P	0.50710	0.83;0.938	B;B	0.42916	0.402;0.25	T	0.66019	-0.6027	10	0.46703	T	0.11	.	5.2624	0.15582	0.0:0.7455:0.0:0.2545	.	367;367	F1T0J1;P43026	.;GDF5_HUMAN	N	367	ENSP00000363489:K367N;ENSP00000363492:K367N	ENSP00000363489:K367N	K	-	3	2	GDF5	33485526	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	1.598000	0.36740	2.288000	0.76882	0.491000	0.48974	AAG		0.597	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2		
CEP250	11190	broad.mit.edu	37	20	34065891	34065891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34065891G>T	ENST00000397527.1	+	17	2779	c.2059G>T	c.(2059-2061)Gaa>Taa	p.E687*	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Nonsense_Mutation_p.E687*|RP3-477O4.14_ENST00000453914.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	687	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E687*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACATCCAAGAAGAGAAGGA	0.453																																					p.E687X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2059T	20						.						41.0	45.0	44.0					20																	34065891		2203	4300	6503	33529305	SO:0001587	stop_gained	11190	exon17			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.2059G>T	20.37:g.34065891G>T	ENSP00000380661:p.Glu687*		33529305	NM_007186	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	CCDS13255.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.58|12.58	1.979760|1.979760	0.34942|0.34942	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580|ENST00000425096	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.106399|.	0.41194|.	D|.	0.000933|.	.|T	.|0.73497	.|0.3594	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73043	.|-0.4107	.|3	0.56958|.	D|.	0.05|.	.|.	17.1083|17.1083	0.86669|0.86669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	687|200	.|.	ENSP00000341541:E687X|.	E|R	+|+	1|2	0|0	CEP250|CEP250	33529305|33529305	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.707000|0.707000	0.40811|0.40811	4.188000|4.188000	0.58351|0.58351	2.564000|2.564000	0.86499|0.86499	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.453	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
ERGIC3	51614	broad.mit.edu	37	20	34130142	34130142	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34130142G>T	ENST00000348547.2	+	2	236	c.159G>T	c.(157-159)gaG>gaT	p.E53D	ERGIC3_ENST00000447986.1_Splice_Site_p.E53D|ERGIC3_ENST00000279052.6_Splice_Site_p.E53D|ERGIC3_ENST00000357394.4_Splice_Site_p.E53D	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	53					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E53D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TCACCACGGAGGTAAGGGGCG	0.582																																					p.E53D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G159T	20						.						88.0	85.0	86.0					20																	34130142		2203	4300	6503	33593556	SO:0001630	splice_region_variant	51614	exon2			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.159+1G>T	20.37:g.34130142G>T			33593556	NM_198398	Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Missense_Mutation	SNP	ENST00000348547.2	37	CCDS13257.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.97|14.97|14.97	2.693158|2.693158|2.693158	0.48202|0.48202|0.48202	.|.|.	.|.|.	ENSG00000125991|ENSG00000125991|ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000411577|ENST00000413587|ENST00000416206	T;T;T;T;T|.|.	0.45276|.|.	0.91;0.9;0.91;0.9;0.91|.|.	4.75|4.75|4.75	4.75|4.75|4.75	0.60458|0.60458|0.60458	.|.|.	0.052711|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.50718|0.50718|0.50718	0.1632|0.1632|0.1632	N|N|N	0.26042|0.26042|0.26042	0.785|0.785|0.785	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;P;B|.|.	0.34587|.|.	0.012;0.101;0.145;0.003;0.458;0.145|.|.	B;B;B;B;B;B|.|.	0.31390|.|.	0.02;0.09;0.066;0.011;0.129;0.066|.|.	T|T|T	0.41556|0.41556|0.41556	-0.9502|-0.9502|-0.9502	10|5|5	0.13470|.|.	T|.|.	0.59|.|.	-19.1073|-19.1073|-19.1073	11.7532|11.7532|11.7532	0.51859|0.51859|0.51859	0.0809:0.0:0.9191:0.0|0.0809:0.0:0.9191:0.0|0.0809:0.0:0.9191:0.0	.|.|.	53;53;53;53;53;53|.|.	B4DV36;E9PFA8;Q9Y282;Q9Y282-3;Q9Y282-2;A2TJK5|.|.	.;.;ERGI3_HUMAN;.;.;.|.|.	D|C|M	53;53;53;53;47|43|52	ENSP00000341358:E53D;ENSP00000349970:E53D;ENSP00000392341:E53D;ENSP00000279052:E53D;ENSP00000414490:E47D|.|.	ENSP00000279052:E53D|.|.	E|G|R	+|+|+	3|1|2	2|0|0	ERGIC3|ERGIC3|ERGIC3	33593556|33593556|33593556	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	5.280000|5.280000|5.280000	0.65603|0.65603|0.65603	2.623000|2.623000|2.623000	0.88846|0.88846|0.88846	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAG|GGT|AGG		0.582	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078880.2	NM_015966	Missense_Mutation
RBM12	10137	broad.mit.edu	37	20	34241693	34241693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34241693G>A	ENST00000374114.3	-	3	1815	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	RBM12_ENST00000374104.3_Nonsense_Mutation_p.R518*|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Nonsense_Mutation_p.R518*|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	518						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R518*(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGTCTTTTTCGAATCATATCT	0.398																																					p.R518X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1552T	20						.						179.0	174.0	175.0					20																	34241693		2203	4300	6503	33705107	SO:0001587	stop_gained	10137	exon3			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1552C>T	20.37:g.34241693G>A	ENSP00000363228:p.Arg518*		33705107	NM_152838	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Nonsense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676604	0.96764	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	.	.	.	4.64	2.59	0.31030	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5429	12.819	0.57681	0.0:0.0:0.6381:0.3619	.	.	.	.	X	518;518;518;317	.	ENSP00000339879:R317X	R	-	1	2	RBM12	33705107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	0.459000	0.27016	0.561000	0.74099	CGA		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047	
RBM39	9584	broad.mit.edu	37	20	34302298	34302298	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34302298T>C	ENST00000253363.6	-	11	928	c.905A>G	c.(904-906)gAa>gGa	p.E302G	RBM39_ENST00000361162.6_Missense_Mutation_p.E302G|snoU13_ENST00000459110.1_RNA|RBM39_ENST00000407261.4_Missense_Mutation_p.E145G|RBM39_ENST00000528062.3_Missense_Mutation_p.E280G			Q14498	RBM39_HUMAN	RNA binding motif protein 39	302	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E302G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTGGCACATTCTGAGTCAGA	0.353																																					p.E302G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A905G	20						.						63.0	55.0	58.0					20																	34302298		2203	4300	6503	33765712	SO:0001583	missense	9584	exon11			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.905A>G	20.37:g.34302298T>C	ENSP00000253363:p.Glu302Gly		33765712	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686530	0.88639	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.092847	0.85682	D	0.000000	D	0.88288	0.6396	L	0.35723	1.085	0.80722	D	1	B;P;P;P;B	0.40282	0.43;0.617;0.475;0.711;0.071	P;P;B;P;B	0.48304	0.517;0.573;0.2;0.534;0.337	D	0.88336	0.2971	10	0.46703	T	0.11	.	15.3991	0.74823	0.0:0.0:0.0:1.0	.	280;280;302;302;278	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	G	302;302;280;145	ENSP00000253363:E302G;ENSP00000354437:E302G;ENSP00000436747:E280G;ENSP00000384541:E145G	ENSP00000253363:E302G	E	-	2	0	RBM39	33765712	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.778000	0.85637	2.234000	0.73211	0.533000	0.62120	GAA		0.353	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
RBM39	9584	broad.mit.edu	37	20	34326903	34326903	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34326903C>A	ENST00000253363.6	-	3	111	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	RBM39_ENST00000463098.1_5'Flank|RBM39_ENST00000361162.6_Nonsense_Mutation_p.E30*|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Nonsense_Mutation_p.E30*|RBM39_ENST00000397370.3_Nonsense_Mutation_p.E30*			Q14498	RBM39_HUMAN	RNA binding motif protein 39	30					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E30*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTGCTACGTTCTTCATGGCCG	0.443																																					p.E30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G88T	20						.						143.0	120.0	127.0					20																	34326903		2203	4300	6503	33790317	SO:0001587	stop_gained	9584	exon3			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.88G>T	20.37:g.34326903C>A	ENSP00000253363:p.Glu30*		33790317	NM_004902	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Nonsense_Mutation	SNP	ENST00000253363.6	37	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.553835|5.553835	0.96501|0.96501	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927;ENST00000397370|ENST00000426951	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.097095|.	0.64402|.	D|.	0.000002|.	.|T	.|0.75133	.|0.3808	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73649	.|-0.3916	.|4	0.27082|.	T|.	0.32|.	.|.	19.1783|19.1783	0.93612|0.93612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	30|17	.|.	ENSP00000253363:E30X|.	E|K	-|-	1|3	0|2	RBM39|RBM39	33790317|33790317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.247000|7.247000	0.78257|0.78257	2.523000|2.523000	0.85059|0.85059	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.443	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
PHF20	51230	broad.mit.edu	37	20	34459740	34459740	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34459740C>T	ENST00000374012.3	+	9	1400	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	424					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S424L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CAAGAGATTTCGACTGTGGAA	0.378																																					p.S424L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1271T	20						.						82.0	85.0	84.0					20																	34459740		2203	4300	6503	33923154	SO:0001583	missense	51230	exon9			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1271C>T	20.37:g.34459740C>T	ENSP00000363124:p.Ser424Leu		33923154	NM_016436	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222971	0.39300	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.58060	1.12;0.36;0.36	5.56	5.56	0.83823	.	0.256554	0.33610	N	0.004735	T	0.48040	0.1478	L	0.46157	1.445	0.80722	D	1	P;D	0.59357	0.897;0.985	B;B	0.42386	0.122;0.386	T	0.48525	-0.9028	10	0.40728	T	0.16	.	15.0108	0.71547	0.0:1.0:0.0:0.0	.	424;424	Q9BVI0;Q66K49	PHF20_HUMAN;.	L	424	ENSP00000363124:S424L;ENSP00000341900:S424L;ENSP00000363112:S424L	ENSP00000341900:S424L	S	+	2	0	PHF20	33923154	0.991000	0.36638	0.924000	0.36721	0.107000	0.19398	3.776000	0.55356	2.617000	0.88574	0.591000	0.81541	TCG		0.378	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
PHF20	51230	broad.mit.edu	37	20	34515779	34515779	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34515779T>G	ENST00000374012.3	+	14	2211	c.2082T>G	c.(2080-2082)tgT>tgG	p.C694W	RNU6-937P_ENST00000384325.1_RNA|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	694					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C694W(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AATACACCTGTTATGTTTGCC	0.458																																					p.C694W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2082G	20						.						135.0	132.0	133.0					20																	34515779		2203	4300	6503	33979193	SO:0001583	missense	51230	exon14			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2082T>G	20.37:g.34515779T>G	ENSP00000363124:p.Cys694Trp		33979193	NM_016436	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686670	0.68157	.	.	ENSG00000025293	ENST00000374012	D	0.99667	-6.34	5.91	2.37	0.29283	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98258	1.0497	10	0.87932	D	0	.	6.6393	0.22901	0.0:0.4451:0.0:0.5549	.	694	Q9BVI0	PHF20_HUMAN	W	694	ENSP00000363124:C694W	ENSP00000363124:C694W	C	+	3	2	PHF20	33979193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.881000	0.28173	0.517000	0.28361	0.533000	0.62120	TGT		0.458	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
EPB41L1	2036	broad.mit.edu	37	20	34765945	34765945	+	Silent	SNP	C	C	T	rs373620188		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:34765945C>T	ENST00000338074.2	+	4	575	c.414C>T	c.(412-414)ttC>ttT	p.F138F	EPB41L1_ENST00000202028.5_Silent_p.F76F|EPB41L1_ENST00000441639.1_Silent_p.F76F|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373941.1_Silent_p.F138F|EPB41L1_ENST00000373946.3_Silent_p.F107F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	138	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.F138F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGACTACTTCGGCCTGACCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19685	0.001		0.0	False		,,,				2504	0.0				p.F138F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	20						.	C	,	0,4406		0,0,2203	117.0	93.0	101.0		414,228	0.4	1.0	20		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPB41L1	NM_012156.2,NM_177996.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	138/882,76/780	34765945	1,13005	2203	4300	6503	34229359	SO:0001819	synonymous_variant	2036	exon4			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.414C>T	20.37:g.34765945C>T			34229359	NM_012156	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1																																																																																				0.582	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
NDRG3	57446	broad.mit.edu	37	20	35288785	35288785	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35288785G>A	ENST00000349004.1	-	13	894	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NDRG3_ENST00000359675.2_Silent_p.V259V|NDRG3_ENST00000373773.3_Silent_p.V176V|NDRG3_ENST00000540765.1_Silent_p.V167V|NDRG3_ENST00000373803.2_Silent_p.V271V	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	271					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V271V(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353																																					p.V271V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	20						.						82.0	82.0	82.0					20																	35288785		2203	4300	6503	34722199	SO:0001819	synonymous_variant	57446	exon13			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.813C>T	20.37:g.35288785G>A			34722199	NM_032013	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	ENST00000349004.1	37	CCDS13285.1																																																																																				0.353	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2		
ATRN	8455	broad.mit.edu	37	20	3553521	3553521	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3553521C>T	ENST00000262919.5	+	12	2083	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATRN_ENST00000446916.2_Missense_Mutation_p.S672L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	672					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S672L(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AACACAGGGTCGTCTCAGTGT	0.448																																					p.S672L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2015T	20						.						159.0	128.0	138.0					20																	3553521		2203	4300	6503	3501521	SO:0001583	missense	8455	exon12			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2015C>T	20.37:g.3553521C>T	ENSP00000262919:p.Ser672Leu		3501521	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041791	0.07452	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06218	3.33;3.41	5.65	-0.738	0.11125	.	1.110700	0.06576	N	0.749436	T	0.05044	0.0135	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45381	-0.9265	10	0.30078	T	0.28	2.3127	7.2151	0.25955	0.0:0.2946:0.1274:0.578	.	672;672	O75882;O75882-2	ATRN_HUMAN;.	L	672;672;598	ENSP00000262919:S672L;ENSP00000416587:S672L	ENSP00000262919:S672L	S	+	2	0	ATRN	3501521	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.060000	0.11712	-0.058000	0.13177	-0.302000	0.09304	TCG		0.448	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
ATRN	8455	broad.mit.edu	37	20	3559320	3559320	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3559320C>A	ENST00000262919.5	+	15	2513	c.2445C>A	c.(2443-2445)ttC>ttA	p.F815L	ATRN_ENST00000446916.2_Missense_Mutation_p.F815L	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	815	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F815L(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTAAATTGTTCTGTAGGAACC	0.398																																					p.F815L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2445A	20						.						102.0	96.0	98.0					20																	3559320		2203	4300	6503	3507320	SO:0001583	missense	8455	exon15			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2445C>A	20.37:g.3559320C>A	ENSP00000262919:p.Phe815Leu		3507320	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414138	0.42817	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.55052	0.54;0.54	5.42	5.42	0.78866	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.255939	0.40818	N	0.001007	T	0.45357	0.1338	L	0.39245	1.2	0.32356	N	0.557756	B;B	0.09022	0.002;0.001	B;B	0.14578	0.011;0.003	T	0.46456	-0.9190	10	0.12430	T	0.62	-7.9714	18.8161	0.92077	0.0:1.0:0.0:0.0	.	815;815	O75882;O75882-2	ATRN_HUMAN;.	L	815;815;741	ENSP00000262919:F815L;ENSP00000416587:F815L	ENSP00000262919:F815L	F	+	3	2	ATRN	3507320	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.829000	0.39121	2.534000	0.85438	0.655000	0.94253	TTC		0.398	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
ATRN	8455	broad.mit.edu	37	20	3559394	3559394	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3559394G>A	ENST00000262919.5	+	15	2587	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	ATRN_ENST00000446916.2_Missense_Mutation_p.R840Q	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	840	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R840Q(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AAGCAGCTGCGAATAATGCAG	0.413																																					p.R840Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2519A	20						.						76.0	72.0	73.0					20																	3559394		2203	4300	6503	3507394	SO:0001583	missense	8455	exon15			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2519G>A	20.37:g.3559394G>A	ENSP00000262919:p.Arg840Gln		3507394	NM_139322	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082314	0.36758	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18016	2.24;2.24	5.56	4.61	0.57282	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.199871	0.43416	D	0.000565	T	0.04318	0.0119	N	0.00605	-1.335	0.36903	D	0.890522	B;B	0.11235	0.004;0.001	B;B	0.06405	0.001;0.002	T	0.26916	-1.0089	10	0.15066	T	0.55	-5.0244	7.037	0.24998	0.289:0.0:0.711:0.0	.	840;840	O75882;O75882-2	ATRN_HUMAN;.	Q	840;840;766	ENSP00000262919:R840Q;ENSP00000416587:R840Q	ENSP00000262919:R840Q	R	+	2	0	ATRN	3507394	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.195000	0.51013	1.362000	0.46000	0.655000	0.94253	CGA		0.413	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321	
SAMHD1	25939	broad.mit.edu	37	20	35545400	35545400	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35545400G>T	ENST00000262878.4	-	8	1104	c.905C>A	c.(904-906)tCt>tAt	p.S302Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	302	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S302Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTTTATTAGATACTATCTC	0.363																																					p.S302Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C905A	20						.						59.0	55.0	57.0					20																	35545400		2203	4300	6503	34978814	SO:0001583	missense	25939	exon8			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.905C>A	20.37:g.35545400G>T	ENSP00000262878:p.Ser302Tyr		34978814	NM_015474	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955363	0.92726	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.96459	-4.02;-4.02	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.206543	0.49916	D	0.000130	D	0.97939	0.9322	M	0.83852	2.665	0.58432	D	0.999995	D	0.56746	0.977	P	0.59171	0.853	D	0.98350	1.0543	10	0.87932	D	0	-9.7048	19.7192	0.96135	0.0:0.0:1.0:0.0	.	302	Q9Y3Z3	SAMH1_HUMAN	Y	302;87	ENSP00000262878:S302Y;ENSP00000362798:S87Y	ENSP00000262878:S302Y	S	-	2	0	SAMHD1	34978814	1.000000	0.71417	0.990000	0.47175	0.834000	0.47266	9.671000	0.98627	2.823000	0.97156	0.591000	0.81541	TCT		0.363	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474	
RBL1	5933	broad.mit.edu	37	20	35646765	35646765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35646765C>A	ENST00000373664.3	-	19	2705	c.2639G>T	c.(2638-2640)aGa>aTa	p.R880I	RBL1_ENST00000344359.3_Missense_Mutation_p.R880I	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	880	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.R880I(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CAGAACACTTCTATATACCTA	0.333																																					p.R880I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2639T	20						.						67.0	67.0	67.0					20																	35646765		2201	4298	6499	35080179	SO:0001583	missense	5933	exon19			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2639G>T	20.37:g.35646765C>A	ENSP00000362768:p.Arg880Ile		35080179	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710185	0.68730	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92595	-3.07;-3.07	4.85	4.85	0.62838	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	M	0.89353	3.025	0.80722	D	1	D;D	0.63046	0.971;0.992	P;D	0.70227	0.687;0.968	D	0.97228	0.9882	10	0.87932	D	0	-20.8994	17.199	0.86901	0.0:1.0:0.0:0.0	.	880;880	P28749-2;P28749	.;RBL1_HUMAN	I	880	ENSP00000362768:R880I;ENSP00000343646:R880I	ENSP00000343646:R880I	R	-	2	0	RBL1	35080179	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.578000	0.60929	2.529000	0.85273	0.460000	0.39030	AGA		0.333	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
RBL1	5933	broad.mit.edu	37	20	35651162	35651162	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35651162C>T	ENST00000373664.3	-	17	2516	c.2450G>A	c.(2449-2451)cGa>cAa	p.R817Q	RBL1_ENST00000344359.3_Missense_Mutation_p.R817Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	817	Domain B.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.R817Q(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TATCTTCCTTCGTAACTCATT	0.373																																					p.R817Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2450A	20						.						120.0	107.0	111.0					20																	35651162		2203	4300	6503	35084576	SO:0001583	missense	5933	exon17			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2450G>A	20.37:g.35651162C>T	ENSP00000362768:p.Arg817Gln		35084576	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084246	0.94100	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.91631	-2.88;-2.88	5.39	4.45	0.53987	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.070349	0.56097	D	0.000022	D	0.94178	0.8132	M	0.63428	1.95	0.54753	D	0.999989	D;P	0.76494	0.999;0.819	D;P	0.63192	0.912;0.575	D	0.92626	0.6112	10	0.25751	T	0.34	-4.1047	15.4901	0.75600	0.1397:0.8603:0.0:0.0	.	817;817	P28749-2;P28749	.;RBL1_HUMAN	Q	817	ENSP00000362768:R817Q;ENSP00000343646:R817Q	ENSP00000343646:R817Q	R	-	2	0	RBL1	35084576	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.928000	0.70088	1.274000	0.44362	0.555000	0.69702	CGA		0.373	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
MROH8	140699	broad.mit.edu	37	20	35740792	35740792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35740792C>A	ENST00000400441.3	-	21	2748	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	MROH8_ENST00000217333.8_Nonsense_Mutation_p.E746*|MROH8_ENST00000441008.2_Nonsense_Mutation_p.E903*			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.E917*(1)									GAGTACACTTCTTGGGGCAGC	0.418																																					p.R917I												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2750T	20						.						110.0	101.0	104.0					20																	35740792		1889	4117	6006	35174206	SO:0001587	stop_gained	140699	exon20			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2749G>T	20.37:g.35740792C>A	ENSP00000383291:p.Glu917*		35174206	NM_152503	Q5JYQ6	Nonsense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	6.666690|6.666690|6.666690	0.97747|0.97747|0.97747	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811|ENST00000417458	.|.|.	.|.|.	.|.|.	5.57|5.57|5.57	3.49|3.49|3.49	0.39957|0.39957|0.39957	.|.|.	0.618437|.|.	0.16759|.|.	N|.|.	0.200709|.|.	.|T|T	.|0.54695|0.54695	.|0.1874|0.1874	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.64445|0.64445	.|-0.6406|-0.6406	.|3|3	0.10377|.|.	T|.|.	0.69|.|.	0.0564|0.0564|0.0564	11.7616|11.7616|11.7616	0.51908|0.51908|0.51908	0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0|0.0:0.6566:0.3434:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	903;917;746|943|544	.|.|.	ENSP00000217333:E746X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35174206|35174206|35174206	0.907000|0.907000|0.907000	0.30839|0.30839|0.30839	0.904000|0.904000|0.904000	0.35570|0.35570|0.35570	0.786000|0.786000|0.786000	0.44442|0.44442|0.44442	0.782000|0.782000|0.782000	0.26788|0.26788|0.26788	1.311000|1.311000|1.311000	0.45024|0.45024|0.45024	0.511000|0.511000|0.511000	0.50034|0.50034|0.50034	GAA|AAG|AGA		0.418	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
RPN2	6185	broad.mit.edu	37	20	35857024	35857024	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:35857024C>T	ENST00000237530.6	+	12	1682	c.1371C>T	c.(1369-1371)aaC>aaT	p.N457N	RPN2_ENST00000373622.5_Silent_p.N425N	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	457					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.N457N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACAACAAGAACGTGTACAAGT	0.423																																					p.N457N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	20						.						119.0	113.0	115.0					20																	35857024		2203	4300	6503	35290438	SO:0001819	synonymous_variant	6185	exon12			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1371C>T	20.37:g.35857024C>T			35290438	NM_002951	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	CCDS13291.1																																																																																				0.423	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
SIGLEC1	6614	broad.mit.edu	37	20	3682019	3682019	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3682019C>T	ENST00000344754.4	-	6	1497	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A500T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	500	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A500T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGGAGGTTGCATTTCCAAGG	0.587																																					p.A500T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498A	20						.						80.0	64.0	70.0					20																	3682019		2203	4300	6503	3630019	SO:0001583	missense	6614	exon6			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""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"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1498G>A	20.37:g.3682019C>T	ENSP00000341141:p.Ala500Thr		3630019	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387390	0.61956	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.68903	-0.36;-0.36	5.69	-0.303	0.12792	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.976540	0.08323	N	0.963596	T	0.73606	0.3608	M	0.65975	2.015	0.09310	N	1	P;P	0.49559	0.925;0.846	P;P	0.53760	0.734;0.611	T	0.64791	-0.6324	10	0.17832	T	0.49	.	15.7684	0.78146	0.6833:0.3167:0.0:0.0	.	500;500	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	T	500	ENSP00000341141:A500T;ENSP00000202578:A500T	ENSP00000202578:A500T	A	-	1	0	SIGLEC1	3630019	0.000000	0.05858	0.001000	0.08648	0.977000	0.68977	-1.114000	0.03293	-0.342000	0.08363	0.655000	0.94253	GCA		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
TGM2	7052	broad.mit.edu	37	20	36760871	36760871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:36760871C>A	ENST00000361475.2	-	11	1820	c.1647G>T	c.(1645-1647)gaG>gaT	p.E549D	TGM2_ENST00000536701.1_Missense_Mutation_p.E468D|TGM2_ENST00000536724.1_Missense_Mutation_p.E489D	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	549					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E549D(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACGGTATTTCTCATAGAGGA	0.542																																					p.E549D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1647T	20						.						178.0	178.0	178.0					20																	36760871		2203	4300	6503	36194285	SO:0001583	missense	7052	exon11			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1647G>T	20.37:g.36760871C>A	ENSP00000355330:p.Glu549Asp		36194285	NM_004613	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	3.021	-0.201695	0.06219	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.29917	1.55;1.55;1.55	4.67	-1.27	0.09347	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.693293	0.14694	N	0.303994	T	0.23846	0.0577	M	0.64997	1.995	0.19300	N	0.99997	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.12156	0.003;0.007;0.005;0.004	T	0.27226	-1.0080	10	0.19590	T	0.45	-11.674	6.0283	0.19667	0.0:0.4563:0.2416:0.3021	.	489;468;489;549	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	D	549;468;489	ENSP00000355330:E549D;ENSP00000444701:E468D;ENSP00000437479:E489D	ENSP00000355330:E549D	E	-	3	2	TGM2	36194285	0.840000	0.29493	0.508000	0.27688	0.056000	0.15407	-0.119000	0.10676	0.121000	0.18284	0.561000	0.74099	GAG		0.542	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
KIAA1755	85449	broad.mit.edu	37	20	36869698	36869698	+	Missense_Mutation	SNP	G	G	T	rs201894627		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:36869698G>T	ENST00000279024.4	-	3	1106	c.835C>A	c.(835-837)Cta>Ata	p.L279I		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	279								p.L279I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAAAAGCCTAGGAGAGCCACA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18456	0.0		0.001	False		,,,				2504	0.0				p.L279I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C835A	20						.						106.0	104.0	105.0					20																	36869698		2203	4300	6503	36303112	SO:0001583	missense	85449	exon3			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.835C>A	20.37:g.36869698G>T	ENSP00000279024:p.Leu279Ile		36303112	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.42	2.528603	0.44969	.	.	ENSG00000149633	ENST00000279024	T	0.14266	2.52	5.07	4.1	0.47936	.	0.000000	0.38605	N	0.001621	T	0.29126	0.0724	M	0.66939	2.045	0.34108	D	0.662606	D	0.67145	0.996	P	0.57283	0.817	T	0.49466	-0.8937	10	0.72032	D	0.01	.	12.9373	0.58322	0.0:0.1626:0.8374:0.0	.	279	Q5JYT7	K1755_HUMAN	I	279	ENSP00000279024:L279I	ENSP00000279024:L279I	L	-	1	2	KIAA1755	36303112	1.000000	0.71417	0.954000	0.39281	0.543000	0.35085	2.033000	0.41136	1.320000	0.45209	0.655000	0.94253	CTA		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
BPI	671	broad.mit.edu	37	20	36932652	36932652	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:36932652G>A	ENST00000262865.4	+	1	128	c.39G>A	c.(37-39)ccG>ccA	p.P13P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	13					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.P13P(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCAACGCGCCGAGATGGGCGT	0.617																																					p.P13P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G39A	20						.						74.0	73.0	73.0					20																	36932652		2203	4300	6503	36366066	SO:0001819	synonymous_variant	671	exon1			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.39G>A	20.37:g.36932652G>A			36366066	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1																																																																																				0.617	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
BPI	671	broad.mit.edu	37	20	36954708	36954708	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:36954708C>A	ENST00000262865.4	+	10	1136	c.1047C>A	c.(1045-1047)gtC>gtA	p.V349V	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	349					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.V349V(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AGATCCATGTCTCAGCCTCCA	0.557																																					p.V349V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047A	20						.						90.0	72.0	79.0					20																	36954708		2203	4300	6503	36388122	SO:0001819	synonymous_variant	671	exon10			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1047C>A	20.37:g.36954708C>A			36388122	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.713	-0.059072	0.07317	.	.	ENSG00000101425	ENST00000417318	.	.	.	4.52	-4.11	0.03928	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.20703	N	0.999864	.	.	.	.	.	.	T	0.40534	-0.9558	4	.	.	.	-2.001	12.2187	0.54420	0.0:0.1784:0.6704:0.1511	.	.	.	.	Y	175	.	.	S	+	2	0	BPI	36388122	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.323000	0.01117	-0.575000	0.05982	-0.127000	0.14921	TCT		0.557	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
BPI	671	broad.mit.edu	37	20	36964001	36964001	+	Splice_Site	SNP	G	G	T	rs142119049		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:36964001G>T	ENST00000262865.4	+	14	1439	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	450					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.E450D(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CTGTCACAGAGAAACTACAGA	0.577																																					p.E450D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1350T	20						.	G	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	93.0	91.0	92.0		1350	2.7	0.8	20	dbSNP_134	92	0,8600		0,0,4300	no	missense-near-splice	BPI	NM_001725.2	45	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	450/488	36964001	1,13005	2203	4300	6503	36397415	SO:0001630	splice_region_variant	671	exon14			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1349-1G>T	20.37:g.36964001G>T			36397415	NM_001725	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.62|10.62	1.400504|1.400504	0.25291|0.25291	2.27E-4|2.27E-4	0.0|0.0	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.06849|.	3.25|.	3.65|3.65	2.65|2.65	0.31530|0.31530	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.292311|.	0.27991|.	N|.	0.017036|.	T|T	0.45776|0.45776	0.1359|0.1359	L|L	0.41632|0.41632	1.29|1.29	0.37138|0.37138	D|D	0.901584|0.901584	P|.	0.46457|.	0.878|.	P|.	0.51657|.	0.676|.	T|T	0.45026|0.45026	-0.9289|-0.9289	10|5	0.22109|.	T|.	0.4|.	.|.	5.9472|5.9472	0.19225|0.19225	0.1559:0.0:0.8441:0.0|0.1559:0.0:0.8441:0.0	.|.	450|.	P17213|.	BPI_HUMAN|.	D|I	450|276	ENSP00000262865:E450D|.	ENSP00000262865:E450D|.	E|R	+|+	3|2	2|0	BPI|BPI	36397415|36397415	0.966000|0.966000	0.33281|0.33281	0.840000|0.840000	0.33206|0.33206	0.183000|0.183000	0.23260|0.23260	1.531000|1.531000	0.36018|0.36018	1.030000|1.030000	0.39839|0.39839	0.455000|0.455000	0.32223|0.32223	GAG|AGA		0.577	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	Missense_Mutation
RALGAPB	57148	broad.mit.edu	37	20	37144971	37144971	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37144971C>T	ENST00000262879.6	+	7	1293	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R115C|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R337C|RALGAPB_ENST00000537204.1_Missense_Mutation_p.R337C|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R337C			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	337					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R337C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AATATTTTTTCGTGCCATGCG	0.413																																					p.R337C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009T	20						.						208.0	192.0	198.0					20																	37144971		2203	4300	6503	36578385	SO:0001583	missense	57148	exon7			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1009C>T	20.37:g.37144971C>T	ENSP00000262879:p.Arg337Cys		36578385	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648404	0.87958	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.48	5.48	0.80851	.	0.048056	0.85682	D	0.000000	T	0.64789	0.2630	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.994;0.997;0.997	P;P;P;P;P	0.56474	0.799;0.799;0.742;0.799;0.799	T	0.66567	-0.5891	9	0.66056	D	0.02	.	14.5378	0.67973	0.1464:0.8535:0.0:0.0	.	337;165;337;337;337	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	C	337;337;337;115;337;337;165	.	ENSP00000262879:R337C	R	+	1	0	RALGAPB	36578385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.645000	0.61404	2.722000	0.93159	0.467000	0.42956	CGT		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
SLC32A1	140679	broad.mit.edu	37	20	37356137	37356137	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37356137G>T	ENST00000217420.1	+	2	696	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	145					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.G145C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCTGCACGGCGGCTACCTGGG	0.617																																					p.G145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433T	20						.						67.0	55.0	59.0					20																	37356137		2203	4299	6502	36789551	SO:0001583	missense	140679	exon2			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.433G>T	20.37:g.37356137G>T	ENSP00000217420:p.Gly145Cys		36789551	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024038	0.75390	.	.	ENSG00000101438	ENST00000217420	T	0.64260	-0.09	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84237	0.0470	10	0.87932	D	0	-20.9238	14.9054	0.70715	0.0:0.0:1.0:0.0	.	145	Q9H598	VIAAT_HUMAN	C	145	ENSP00000217420:G145C	ENSP00000217420:G145C	G	+	1	0	SLC32A1	36789551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.631000	0.98424	2.387000	0.81309	0.563000	0.77884	GGC		0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
SLC32A1	140679	broad.mit.edu	37	20	37356420	37356420	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37356420C>T	ENST00000217420.1	+	2	979	c.716C>T	c.(715-717)tCg>tTg	p.S239L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	239					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.S239L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTGCCCGTGTCGCAGAAGTCC	0.582																																					p.S239L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C716T	20						.						107.0	76.0	87.0					20																	37356420		2203	4300	6503	36789834	SO:0001583	missense	140679	exon2			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.716C>T	20.37:g.37356420C>T	ENSP00000217420:p.Ser239Leu		36789834	NM_080552	Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243760	0.79912	.	.	ENSG00000101438	ENST00000217420	T	0.02682	4.2	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.54323	1.7	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	T	0.14727	-1.0462	10	0.56958	D	0.05	-10.3087	15.8477	0.78903	0.0:1.0:0.0:0.0	.	239	Q9H598	VIAAT_HUMAN	L	239	ENSP00000217420:S239L	ENSP00000217420:S239L	S	+	2	0	SLC32A1	36789834	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.756000	0.85195	2.428000	0.82296	0.563000	0.77884	TCG		0.582	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
PPP1R16B	26051	broad.mit.edu	37	20	37546912	37546912	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37546912A>G	ENST00000299824.1	+	11	1496	c.1307A>G	c.(1306-1308)cAg>cGg	p.Q436R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.Q394R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	436					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.Q436R(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGTGCCTACCAGTATGCGCTG	0.617																																					p.Q394R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1181G	20						.						157.0	151.0	153.0					20																	37546912		2203	4300	6503	36980326	SO:0001583	missense	26051	exon10			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1307A>G	20.37:g.37546912A>G	ENSP00000299824:p.Gln436Arg		36980326	NM_001172735	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.677|9.677	1.148191|1.148191	0.21288|0.21288	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.71341|.	-0.34;-0.56|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.073163|.	0.56097|.	D|.	0.000032|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.36672|0.36672	1.1|1.1	0.21841|0.21841	N|N	0.999515|0.999515	B;B|.	0.30281|.	0.0;0.275|.	B;B|.	0.21708|.	0.0;0.036|.	T|T	0.28681|0.28681	-1.0036|-1.0036	10|5	0.14656|.	T|.	0.56|.	.|.	11.1731|11.1731	0.48584|0.48584	0.847:0.153:0.0:0.0|0.847:0.153:0.0:0.0	.|.	394;436|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	R|G	436;394|337	ENSP00000299824:Q436R;ENSP00000362428:Q394R|.	ENSP00000299824:Q436R|.	Q|S	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980326|36980326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.103000|2.103000	0.41806|0.41806	2.002000|2.002000	0.58637|0.58637	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.617	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
FAM83D	81610	broad.mit.edu	37	20	37576594	37576594	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37576594G>A	ENST00000217429.4	+	3	858	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	243					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E273K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGGTTCACGAAAAGTTCAC	0.438																																					p.E273K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	20						.						116.0	111.0	113.0					20																	37576594		1967	4144	6111	37010008	SO:0001583	missense	81610	exon3			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.817G>A	20.37:g.37576594G>A	ENSP00000217429:p.Glu273Lys		37010008	NM_030919	B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.176831	0.97348	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.13089	2.62	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.86651	2.83	0.80722	D	1	D	0.58268	0.982	P	0.55222	0.771	T	0.31194	-0.9952	10	0.72032	D	0.01	-4.6384	20.4702	0.99162	0.0:0.0:1.0:0.0	.	243	Q9H4H8	FA83D_HUMAN	K	273;227	ENSP00000217429:E273K	ENSP00000217429:E273K	E	+	1	0	FAM83D	37010008	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	9.441000	0.97557	2.937000	0.99478	0.650000	0.86243	GAA		0.438	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
MAVS	57506	broad.mit.edu	37	20	3844907	3844907	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3844907G>A	ENST00000428216.2	+	6	758	c.630G>A	c.(628-630)gcG>gcA	p.A210A	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.A69A	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.A210A(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCAGGTGCGACCTCCAGCC	0.612																																					p.A210A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G630A	20						.						87.0	89.0	89.0					20																	3844907		2203	4300	6503	3792907	SO:0001819	synonymous_variant	57506	exon6			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.630G>A	20.37:g.3844907G>A			3792907	NM_020746	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	ENST00000428216.2	37	CCDS33437.1																																																																																				0.612	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746	
PANK2	80025	broad.mit.edu	37	20	3888859	3888859	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:3888859G>A	ENST00000316562.4	+	2	921	c.915G>A	c.(913-915)tcG>tcA	p.S305S	PANK2_ENST00000610179.1_Silent_p.S182S|PANK2_ENST00000497424.1_Silent_p.S14S	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	305					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.S305S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAAACTTCTCGAGTCTCCACA	0.418																																					p.S305S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G915A	20						.						100.0	92.0	95.0					20																	3888859		2203	4300	6503	3836859	SO:0001819	synonymous_variant	80025	exon2			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.915G>A	20.37:g.3888859G>A			3836859	NM_153638	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	CCDS13071.2																																																																																				0.418	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960	
DHX35	60625	broad.mit.edu	37	20	37632401	37632401	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37632401G>T	ENST00000252011.3	+	11	895	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	DHX35_ENST00000373323.4_Nonsense_Mutation_p.E257*|DHX35_ENST00000373325.2_Nonsense_Mutation_p.E288*	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	288	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.E288*(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GGAAGAGGTAGAAACTGTTGT	0.453																																					p.E257X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G769T	20						.						143.0	135.0	138.0					20																	37632401		2203	4300	6503	37065815	SO:0001587	stop_gained	60625	exon10			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.862G>T	20.37:g.37632401G>T	ENSP00000252011:p.Glu288*		37065815	NM_001190809	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Nonsense_Mutation	SNP	ENST00000252011.3	37	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599435	0.96614	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	288;288;257;253	.	ENSP00000252011:E288X	E	+	1	0	DHX35	37065815	1.000000	0.71417	0.735000	0.30896	0.948000	0.59901	9.869000	0.99810	2.807000	0.96579	0.591000	0.81541	GAA		0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	
TOP1	7150	broad.mit.edu	37	20	39713125	39713125	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:39713125G>T	ENST00000361337.2	+	8	781	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	177	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.K177N(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAAAACCCAAGAATAAAGATA	0.378			T	NUP98	AML*																																p.K177N			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G531T	20						.						44.0	43.0	43.0					20																	39713125		2200	4297	6497	39146539	SO:0001583	missense	7150	exon8				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.531G>T	20.37:g.39713125G>T	ENSP00000354522:p.Lys177Asn		39146539	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630911	0.46944	.	.	ENSG00000198900	ENST00000361337	T	0.25579	1.79	5.33	5.33	0.75918	.	0.103535	0.64402	D	0.000003	T	0.30696	0.0773	L	0.57536	1.79	0.54753	D	0.999984	P	0.51791	0.948	B	0.43783	0.431	T	0.04946	-1.0916	10	0.44086	T	0.13	-16.5097	15.7241	0.77740	0.0:0.0:1.0:0.0	.	177	P11387	TOP1_HUMAN	N	177	ENSP00000354522:K177N	ENSP00000354522:K177N	K	+	3	2	TOP1	39146539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.775000	0.55349	2.493000	0.84123	0.591000	0.81541	AAG		0.378	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
TOP1	7150	broad.mit.edu	37	20	39741565	39741565	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:39741565G>T	ENST00000361337.2	+	14	1702	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	484					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.K484N(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	TCATCGACAAGGTGAGAGCAT	0.488			T	NUP98	AML*																																p.K484N			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1452T	20						.						84.0	74.0	77.0					20																	39741565		2203	4300	6503	39174979	SO:0001630	splice_region_variant	7150	exon14				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1452+1G>T	20.37:g.39741565G>T			39174979	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301974	0.81136	.	.	ENSG00000198900	ENST00000361337	T	0.44083	0.93	5.3	5.3	0.74995	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78329	-0.2246	10	0.87932	D	0	-17.1921	13.6261	0.62165	0.0747:0.0:0.9252:0.0	.	484	P11387	TOP1_HUMAN	N	484	ENSP00000354522:K484N	ENSP00000354522:K484N	K	+	3	2	TOP1	39174979	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.651000	0.46674	2.633000	0.89246	0.650000	0.86243	AAG		0.488	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		Missense_Mutation
PLCG1	5335	broad.mit.edu	37	20	39795391	39795391	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:39795391C>T	ENST00000373271.1	+	19	2598	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PLCG1_ENST00000244007.3_Silent_p.F731F|PLCG1_ENST00000373272.2_Silent_p.F731F	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	731	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.F731F(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACTCGGAGTTCGACAGCCTTG	0.527																																					p.F731F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2193T	20						.						142.0	128.0	133.0					20																	39795391		2203	4300	6503	39228805	SO:0001819	synonymous_variant	5335	exon19			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2193C>T	20.37:g.39795391C>T			39228805	NM_002660	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	CCDS13314.1																																																																																				0.527	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
ZHX3	23051	broad.mit.edu	37	20	39831594	39831594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:39831594C>A	ENST00000309060.3	-	4	2378	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	ZHX3_ENST00000432768.2_Nonsense_Mutation_p.E655*|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Nonsense_Mutation_p.E655*|ZHX3_ENST00000540170.1_Nonsense_Mutation_p.E655*|ZHX3_ENST00000544979.2_Nonsense_Mutation_p.E655*|ZHX3_ENST00000560361.1_Nonsense_Mutation_p.E655*			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	655					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E655*(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTATCAATTTCTCGTCGGGTC	0.502																																					p.E655X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1963T	20						.						151.0	163.0	159.0					20																	39831594		2203	4300	6503	39265008	SO:0001587	stop_gained	23051	exon3			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1963G>T	20.37:g.39831594C>A	ENSP00000312222:p.Glu655*		39265008	NM_015035	E1P5W5|F5H820|O43145|Q6NUJ7	Nonsense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.757538|9.757538	0.99256|0.99256	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	.|D	.|0.96802	.|-4.13	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.98226	.|0.9413	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98419	.|1.0576	.|5	0.51188|0.72032	T|D	0.08|0.01	-22.6534|-22.6534	20.2348|20.2348	0.98355|0.98355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	655;655;655;655;433|363	.|ENSP00000405421:R363I	ENSP00000312222:E655X|ENSP00000405421:R363I	E|R	-|-	1|2	0|0	ZHX3|ZHX3	39265008|39265008	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	7.473000|7.473000	0.81007|0.81007	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035	
CHD6	84181	broad.mit.edu	37	20	40122242	40122242	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:40122242T>C	ENST00000373233.3	-	10	1427	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G	CHD6_ENST00000309279.7_Missense_Mutation_p.D417G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	417	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.D417G(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGATCTACATCTTCCTCTAG	0.418																																					p.D417G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1250G	20						.						120.0	111.0	114.0					20																	40122242		2203	4300	6503	39555656	SO:0001583	missense	84181	exon10			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1250A>G	20.37:g.40122242T>C	ENSP00000362330:p.Asp417Gly		39555656	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.9|27.9	4.877030|4.877030	0.91664|0.91664	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	T;T|.	0.73897|.	-0.79;-0.79|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Chromo domain (1);Chromo domain/shadow (2);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.85592|0.85592	0.5732|0.5732	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.89237|0.89237	0.3581|0.3581	10|5	0.87932|.	D|.	0|.	-17.6989|-17.6989	15.9211|15.9211	0.79575|0.79575	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	417|.	Q8TD26|.	CHD6_HUMAN|.	G|V	417|120	ENSP00000362330:D417G;ENSP00000308684:D417G|.	ENSP00000308684:D417G|.	D|M	-|-	2|1	0|0	CHD6|CHD6	39555656|39555656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.997000|7.997000	0.88414|0.88414	2.156000|2.156000	0.67533|0.67533	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
SMOX	54498	broad.mit.edu	37	20	4162483	4162483	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:4162483G>A	ENST00000305958.4	+	4	694	c.469G>A	c.(469-471)Gat>Aat	p.D157N	SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000278795.3_Missense_Mutation_p.D157N|SMOX_ENST00000339123.6_Missense_Mutation_p.D157N|SMOX_ENST00000379460.2_Missense_Mutation_p.D157N|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	157					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.D157N(2)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CTTCCGGCACGATAAACCAGT	0.532																																					p.D157N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G469A	20						.						96.0	94.0	95.0					20																	4162483		2203	4300	6503	4110483	SO:0001583	missense	54498	exon4			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.469G>A	20.37:g.4162483G>A	ENSP00000307252:p.Asp157Asn		4110483	NM_175840	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375210	0.42105	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;D;D;D;T	0.92595	-3.07;-3.07;-3.07;-3.07;1.56	5.44	5.44	0.79542	Amine oxidase (1);	0.049971	0.85682	D	0.000000	D	0.87605	0.6219	L	0.32530	0.975	0.30041	N	0.81258	B;B;B;B;B	0.30033	0.12;0.266;0.12;0.004;0.136	B;B;B;B;B	0.27608	0.043;0.043;0.081;0.0;0.027	T	0.83223	-0.0067	10	0.33940	T	0.23	-1.5446	16.8098	0.85716	0.0:0.0:1.0:0.0	.	134;157;157;157;157	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	N	157;157;157;157;14	ENSP00000344595:D157N;ENSP00000307252:D157N;ENSP00000278795:D157N;ENSP00000368773:D157N;ENSP00000407269:D14N	ENSP00000278795:D157N	D	+	1	0	SMOX	4110483	1.000000	0.71417	0.998000	0.56505	0.791000	0.44710	6.834000	0.75339	2.576000	0.86940	0.558000	0.71614	GAT		0.532	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
PTPRT	11122	broad.mit.edu	37	20	40827909	40827909	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:40827909G>A	ENST00000373187.1	-	16	2461	c.2462C>T	c.(2461-2463)tCt>tTt	p.S821F	PTPRT_ENST00000373193.3_Missense_Mutation_p.S824F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S821F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S811F|PTPRT_ENST00000373198.4_Missense_Mutation_p.S840F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S811F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S830F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	821					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.S843F(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAACTAGAAGAGAAGCCTTC	0.572																																					p.S840F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2519T	20						.						319.0	324.0	322.0					20																	40827909		2054	4204	6258	40261323	SO:0001583	missense	11122	exon17			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2462C>T	20.37:g.40827909G>A	ENSP00000362283:p.Ser821Phe		40261323	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896523	0.72639	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.38887	1.11;1.17;1.19;1.21;1.19;1.21;1.21	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.34521	1.04	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.61592	0.891;0.781	T	0.51702	-0.8672	10	0.56958	D	0.05	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	843;821	O14522-1;O14522	.;PTPRT_HUMAN	F	821;821;824;830;843;811;811	ENSP00000362286:S821F;ENSP00000362283:S821F;ENSP00000362289:S824F;ENSP00000348408:S830F;ENSP00000362294:S843F;ENSP00000362280:S811F;ENSP00000362297:S811F	ENSP00000348408:S830F	S	-	2	0	PTPRT	40261323	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.030000	0.93725	2.861000	0.98227	0.655000	0.94253	TCT		0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
SRSF6	6431	broad.mit.edu	37	20	42089365	42089365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42089365C>T	ENST00000244020.3	+	6	803	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	233	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R233*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GAGCAAAGGTCGATCACGTTC	0.433																																					p.R233X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C697T	20						.						57.0	52.0	54.0					20																	42089365		2203	4300	6503	41522779	SO:0001587	stop_gained	6431	exon6			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.697C>T	20.37:g.42089365C>T	ENSP00000244020:p.Arg233*		41522779	NM_006275	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Nonsense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714380	0.96830	.	.	ENSG00000124193	ENST00000244020	.	.	.	5.97	5.97	0.96955	.	0.192641	0.41938	D	0.000782	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	233	.	ENSP00000244020:R233X	R	+	1	2	SRSF6	41522779	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.672000	0.68102	2.833000	0.97629	0.585000	0.79938	CGA		0.433	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275	
SGK2	10110	broad.mit.edu	37	20	42199679	42199679	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42199679G>T	ENST00000341458.4	+	7	888	c.669G>T	c.(667-669)gaG>gaT	p.E223D	SGK2_ENST00000426287.1_Missense_Mutation_p.E189D|SGK2_ENST00000423407.3_Missense_Mutation_p.E163D|SGK2_ENST00000373100.1_Missense_Mutation_p.E163D|SGK2_ENST00000373092.3_Missense_Mutation_p.E163D|SGK2_ENST00000373077.1_Missense_Mutation_p.E162D	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.E223D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGAAACCAGAGAACATTCTCT	0.507																																					p.E163D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	20						.						123.0	115.0	118.0					20																	42199679		2203	4300	6503	41633093	SO:0001583	missense	10110	exon8			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.669G>T	20.37:g.42199679G>T	ENSP00000340608:p.Glu223Asp		41633093	NM_170693	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646433	0.67358	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69	4.22	1.22	0.21188	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.105668	0.64402	D	0.000002	T	0.28566	0.0707	L	0.38692	1.165	0.58432	D	0.999997	P;P;B	0.46142	0.814;0.873;0.382	P;P;B	0.55260	0.662;0.772;0.283	T	0.03463	-1.1034	10	0.87932	D	0	.	6.1795	0.20463	0.4318:0.0:0.5682:0.0	.	189;223;163	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	D	163;163;162;162;163;223;189	ENSP00000362192:E163D;ENSP00000362184:E163D;ENSP00000362168:E162D;ENSP00000396222:E162D;ENSP00000392795:E163D;ENSP00000340608:E223D;ENSP00000412214:E189D	ENSP00000340608:E223D	E	+	3	2	SGK2	41633093	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.815000	0.27253	0.320000	0.23234	-0.258000	0.10820	GAG		0.507	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1		
MYBL2	4605	broad.mit.edu	37	20	42328485	42328485	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42328485C>T	ENST00000217026.4	+	7	879	c.752C>T	c.(751-753)tCg>tTg	p.S251L	MYBL2_ENST00000396863.4_Missense_Mutation_p.S227L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	251					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S251L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCACCACATCGAAGGAACAG	0.567																																					p.S251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	20						.						80.0	68.0	72.0					20																	42328485		2203	4300	6503	41761899	SO:0001583	missense	4605	exon7				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.752C>T	20.37:g.42328485C>T	ENSP00000217026:p.Ser251Leu		41761899	NM_002466	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937043	0.18206	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	1.74	0.24563	.	1.612220	0.03310	N	0.190431	T	0.14141	0.0342	L	0.43152	1.355	0.09310	N	1	B;B	0.32781	0.042;0.384	B;B	0.16289	0.009;0.015	T	0.24440	-1.0160	10	0.34782	T	0.22	-1.1699	6.5378	0.22363	0.0:0.6828:0.1483:0.1689	.	227;251	F8W6N6;P10244	.;MYBB_HUMAN	L	227;251	ENSP00000380072:S227L;ENSP00000217026:S251L	ENSP00000217026:S251L	S	+	2	0	MYBL2	41761899	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	0.289000	0.22422	-0.889000	0.02933	TCG		0.567	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466	
GTSF1L	149699	broad.mit.edu	37	20	42355026	42355026	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42355026G>T	ENST00000373003.1	-	1	612	c.309C>A	c.(307-309)atC>atA	p.I103I	GTSF1L_ENST00000373005.2_Intron	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	103							metal ion binding (GO:0046872)	p.I103I(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGACATTCCAGATATCGGGGC	0.483																																					p.I103I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309A	20						.						117.0	100.0	106.0					20																	42355026		2203	4300	6503	41788440	SO:0001819	synonymous_variant	149699	exon1			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.309C>A	20.37:g.42355026G>T			41788440	NM_176791	Q5JWH5	Silent	SNP	ENST00000373003.1	37	CCDS13323.1																																																																																				0.483	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1	NM_176791	
JPH2	57158	broad.mit.edu	37	20	42788637	42788637	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42788637C>T	ENST00000372980.3	-	2	1662	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	264					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.A264T(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)			CCCAGGCTGGCGGTGGACGCG	0.706																																					p.A264T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	20						.						14.0	16.0	15.0					20																	42788637		2193	4277	6470	42222051	SO:0001583	missense	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.790G>A	20.37:g.42788637C>T	ENSP00000362071:p.Ala264Thr		42222051	NM_020433	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	2.776	-0.254671	0.05829	.	.	ENSG00000149596	ENST00000372980	T	0.60040	0.22	3.03	-0.447	0.12234	.	0.478986	0.22078	U	0.064929	T	0.27933	0.0688	N	0.04880	-0.145	0.58432	D	0.999998	B	0.21071	0.051	B	0.08055	0.003	T	0.06023	-1.0850	10	0.14252	T	0.57	.	9.102	0.36673	0.0:0.6896:0.0:0.3104	.	264	Q9BR39	JPH2_HUMAN	T	264	ENSP00000362071:A264T	ENSP00000362071:A264T	A	-	1	0	JPH2	42222051	0.977000	0.34250	0.208000	0.23602	0.088000	0.18126	0.905000	0.28504	0.066000	0.16515	-0.755000	0.03482	GCC		0.706	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
GDAP1L1	78997	broad.mit.edu	37	20	42893093	42893093	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:42893093C>A	ENST00000342560.5	+	5	742	c.654C>A	c.(652-654)atC>atA	p.I218I	GDAP1L1_ENST00000537864.1_Silent_p.I26I	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	218	GST C-terminal.							p.I218I(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGCCAAGATCTTGGAGCATG	0.552																																					p.I218I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654A	20						.						62.0	56.0	58.0					20																	42893093		2203	4300	6503	42326507	SO:0001819	synonymous_variant	78997	exon5				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.654C>A	20.37:g.42893093C>A			42326507	NM_024034	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Silent	SNP	ENST00000342560.5	37	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223532	0.22457	.	.	ENSG00000124194	ENST00000445952	.	.	.	5.31	2.28	0.28536	.	.	.	.	.	T	0.52468	0.1736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42241	-0.9463	4	.	.	.	.	5.4234	0.16413	0.2844:0.567:0.0:0.1486	.	.	.	.	I	165	.	.	L	+	1	0	GDAP1L1	42326507	0.400000	0.25295	1.000000	0.80357	0.994000	0.84299	0.465000	0.22004	0.605000	0.29947	0.491000	0.48974	CTT		0.552	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034	
HNF4A	3172	broad.mit.edu	37	20	43036049	43036049	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43036049G>T	ENST00000316099.4	+	3	408	c.319G>T	c.(319-321)Gac>Tac	p.D107Y	HNF4A_ENST00000609795.1_Missense_Mutation_p.D85Y|HNF4A_ENST00000457232.1_Missense_Mutation_p.D85Y|HNF4A_ENST00000316673.4_Missense_Mutation_p.D85Y|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Missense_Mutation_p.D107Y|HNF4A_ENST00000415691.2_Missense_Mutation_p.D107Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	107					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D107Y(1)|p.D85Y(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTGGACAAAGACAAGAGGAA	0.587																																					p.D85Y	Colon(79;2 1269 8820 14841 52347)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G253T	20						.						79.0	64.0	69.0					20																	43036049		2203	4300	6503	42469463	SO:0001583	missense	3172	exon3			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.319G>T	20.37:g.43036049G>T	ENSP00000312987:p.Asp107Tyr		42469463	NM_001030003	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969638	0.92855	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31	5.69	5.69	0.88448	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.997;0.997;0.998;1.0;0.998;0.995	D	0.98771	1.0728	10	0.72032	D	0.01	.	19.8064	0.96533	0.0:0.0:1.0:0.0	.	100;107;107;107;85;85;85	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	Y	85;85;107;107;137;107	ENSP00000315180:D85Y;ENSP00000396216:D85Y;ENSP00000312987:D107Y;ENSP00000410911:D107Y;ENSP00000412111:D107Y	ENSP00000312987:D107Y	D	+	1	0	HNF4A	42469463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.859000	0.99545	2.679000	0.91253	0.643000	0.83706	GAC		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3		
SERINC3	10955	broad.mit.edu	37	20	43150569	43150569	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43150569G>T	ENST00000342374.4	-	1	181	c.24C>A	c.(22-24)ttC>ttA	p.F8L	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.F8L|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	8					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.F8L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGGCGAGGGAGAAGACACCCA	0.652																																					p.F8L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C24A	20						.						64.0	58.0	60.0					20																	43150569		2201	4299	6500	42583983	SO:0001583	missense	10955	exon1			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.24C>A	20.37:g.43150569G>T	ENSP00000340243:p.Phe8Leu		42583983	NM_198941	B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081063	0.55753	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.12672	2.66;2.66	4.7	4.7	0.59300	.	0.453474	0.26792	N	0.022462	T	0.06690	0.0171	N	0.05441	-0.05	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30880	-0.9963	10	0.10902	T	0.67	-13.4592	12.2851	0.54788	0.0832:0.0:0.9168:0.0	.	8	Q13530	SERC3_HUMAN	L	8	ENSP00000255175:F8L;ENSP00000340243:F8L	ENSP00000255175:F8L	F	-	3	2	SERINC3	42583983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.878000	0.39608	2.586000	0.87340	0.591000	0.81541	TTC		0.652	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811	
ADA	100	broad.mit.edu	37	20	43251230	43251230	+	Splice_Site	SNP	G	G	A	rs559798694		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43251230G>A	ENST00000372874.4	-	9	978	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Splice_Site_p.R258W|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	282					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)	p.R282W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AGAGCTCACCGAATGACTGCA	0.577									Adenosine Deaminase Deficiency				G|||	1	0.000199681	0.0	0.0	5008	,	,		18824	0.0		0.0	False		,,,				2504	0.001				p.R282W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844T	20						.						59.0	56.0	57.0					20																	43251230		2203	4300	6503	42684644	SO:0001630	splice_region_variant	100	exon9	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.845+1C>T	20.37:g.43251230G>A			42684644	NM_000022	Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294207	0.60086	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95554	-3.74;-3.74	5.13	4.11	0.48088	Adenosine/AMP deaminase (1);	0.169822	0.52532	D	0.000080	D	0.97321	0.9124	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.97451	1.0028	10	0.66056	D	0.02	-16.3693	13.1529	0.59500	0.0:0.0:0.7278:0.2722	.	282	P00813	ADA_HUMAN	W	282;258	ENSP00000361965:R282W;ENSP00000441818:R258W	ENSP00000361965:R282W	R	-	1	2	ADA	42684644	1.000000	0.71417	0.987000	0.45799	0.519000	0.34347	3.291000	0.51764	2.388000	0.81334	0.561000	0.74099	CGG		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022	Missense_Mutation
RIMS4	140730	broad.mit.edu	37	20	43385613	43385613	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43385613C>T	ENST00000372851.3	-	5	583	c.517G>A	c.(517-519)Gct>Act	p.A173T	RIMS4_ENST00000541604.2_Missense_Mutation_p.A174T	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	173	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.A173T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GACTTGCGAGCGACTTTGGTC	0.567																																					p.A173T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	20						.						298.0	270.0	279.0					20																	43385613		2203	4300	6503	42819027	SO:0001583	missense	140730	exon5				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.517G>A	20.37:g.43385613C>T	ENSP00000361942:p.Ala173Thr		42819027	NM_182970	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	33	5.279098	0.95489	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79141	-1.24;-1.24	5.38	5.38	0.77491	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.052363	0.85682	D	0.000000	T	0.76765	0.4033	L	0.60904	1.88	0.80722	D	1	P;P	0.48640	0.913;0.822	B;B	0.40901	0.343;0.242	T	0.80405	-0.1396	10	0.59425	D	0.04	.	19.1287	0.93396	0.0:1.0:0.0:0.0	.	174;173	E1P613;Q9H426	.;RIMS4_HUMAN	T	173;174	ENSP00000361942:A173T;ENSP00000439287:A174T	ENSP00000361942:A173T	A	-	1	0	RIMS4	42819027	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	7.792000	0.85828	2.510000	0.84645	0.462000	0.41574	GCT		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
TOMM34	10953	broad.mit.edu	37	20	43580536	43580536	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43580536G>A	ENST00000372813.3	-	4	640	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	163					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.S163L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527																																					p.S163L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C488T	20						.						173.0	134.0	147.0					20																	43580536		2203	4300	6503	43013950	SO:0001583	missense	10953	exon4			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.488C>T	20.37:g.43580536G>A	ENSP00000361900:p.Ser163Leu		43013950	NM_006809	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298010	0.23650	.	.	ENSG00000025772	ENST00000372813	T	0.78595	-1.19	5.14	0.816	0.18768	.	0.903830	0.09496	N	0.794277	T	0.54334	0.1852	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.39354	-0.9618	10	0.27082	T	0.32	-37.1747	6.8513	0.24016	0.1495:0.2681:0.5824:0.0	.	163	Q15785	TOM34_HUMAN	L	163	ENSP00000361900:S163L	ENSP00000361900:S163L	S	-	2	0	TOMM34	43013950	0.810000	0.29049	0.008000	0.14137	0.003000	0.03518	1.320000	0.33666	0.346000	0.23899	-0.172000	0.13284	TCG		0.527	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809	
PI3	5266	broad.mit.edu	37	20	43804616	43804616	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:43804616T>C	ENST00000243924.3	+	2	241	c.194T>C	c.(193-195)gTc>gCc	p.V65A		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	65	2 X tandem repeats of SVP-1 like motif.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V65A(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAAGAGCCAGTCAAAGGTCCA	0.488																																					p.V65A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T194C	20						.						131.0	112.0	118.0					20																	43804616		2203	4300	6503	43238030	SO:0001583	missense	5266	exon2			D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.194T>C	20.37:g.43804616T>C	ENSP00000243924:p.Val65Ala		43238030	NM_002638	E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	T	5.257	0.232805	0.09969	.	.	ENSG00000124102	ENST00000243924	T	0.59906	0.23	3.18	0.762	0.18454	Whey acidic protein, 4-disulphide core (1);	5.059960	0.00822	N	0.001580	T	0.55033	0.1895	M	0.70787	2.145	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.08126	-1.0737	10	0.25751	T	0.34	.	3.8429	0.08922	0.2168:0.0:0.2249:0.5583	.	65	P19957	ELAF_HUMAN	A	65	ENSP00000243924:V65A	ENSP00000243924:V65A	V	+	2	0	PI3	43238030	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.073000	0.11468	0.129000	0.18514	0.528000	0.53228	GTC		0.488	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638	
PIGT	51604	broad.mit.edu	37	20	44049313	44049313	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44049313G>T	ENST00000279036.6	+	8	1093	c.1013G>T	c.(1012-1014)tGg>tTg	p.W338L	PIGT_ENST00000535404.1_Missense_Mutation_p.W183L|PIGT_ENST00000279035.9_Missense_Mutation_p.W236L|PIGT_ENST00000372689.5_Missense_Mutation_p.W338L|PIGT_ENST00000545755.1_Missense_Mutation_p.W76L|PIGT_ENST00000543458.2_Missense_Mutation_p.W282L|PIGT_ENST00000341555.5_Missense_Mutation_p.W144L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	338					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.W338L(1)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAGCTCAAGTGGAAGAGACCC	0.517																																					p.W236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	20						.						98.0	81.0	87.0					20																	44049313		2203	4300	6503	43482727	SO:0001583	missense	51604	exon6				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1013G>T	20.37:g.44049313G>T	ENSP00000279036:p.Trp338Leu		43482727	NM_001184730	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620846	0.87460	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.971;1.0;1.0;0.996;1.0;1.0;0.992;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.923;0.999;0.999;0.958;0.999;0.997;0.956;0.999	T	0.63180	-0.6695	10	0.12103	T	0.63	-15.1324	18.3101	0.90195	0.0:0.0:1.0:0.0	.	176;236;183;282;76;144;194;76;338	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;Q969N2-3;B7Z1N3;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	L	282;338;236;338;236;76;144;183	ENSP00000441577:W282L;ENSP00000361774:W338L;ENSP00000279035:W236L;ENSP00000279036:W338L;ENSP00000443963:W76L;ENSP00000343783:W144L;ENSP00000440528:W183L	ENSP00000279035:W236L	W	+	2	0	PIGT	43482727	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.454000	0.80714	2.793000	0.96121	0.655000	0.94253	TGG		0.517	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937	
WFDC10A	140832	broad.mit.edu	37	20	44258515	44258515	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44258515A>G	ENST00000372643.3	+	1	351	c.63A>G	c.(61-63)ggA>ggG	p.G21G	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	21						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G21G(1)		large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				AGGCCCAGGGAGGATACCGTG	0.592											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G21G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A63G	20						.						154.0	119.0	131.0					20																	44258515		2203	4300	6503	43691929	SO:0001819	synonymous_variant	140832	exon1			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.63A>G	20.37:g.44258515A>G		922	43691929	NM_080753	A2RRE9|Q5TGZ7	Silent	SNP	ENST00000372643.3	37	CCDS13363.1																																																																																				0.592	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2		
WFDC3	140686	broad.mit.edu	37	20	44418549	44418549	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44418549T>C	ENST00000243938.4	-	2	149	c.66A>G	c.(64-66)atA>atG	p.I22M	WFDC3_ENST00000481847.1_Intron|DNTTIP1_ENST00000372622.3_5'Flank|WFDC3_ENST00000372632.2_Missense_Mutation_p.I22M|WFDC3_ENST00000372630.2_Missense_Mutation_p.I22M	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	22						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I22M(1)		endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				CTCCTGCAGTTATCCAGGATT	0.488																																					p.I22M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A66G	20						.						118.0	99.0	105.0					20																	44418549		2203	4300	6503	43851956	SO:0001583	missense	140686	exon2			AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.66A>G	20.37:g.44418549T>C	ENSP00000243938:p.Ile22Met		43851956	NM_080614	A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	T	4.383	0.070753	0.08436	.	.	ENSG00000124116	ENST00000243938;ENST00000372630;ENST00000372632	T;T;T	0.22945	1.94;1.93;1.95	4.02	-0.712	0.11226	Whey acidic protein, 4-disulphide core (1);	1.041310	0.07697	N	0.939738	T	0.14399	0.0348	N	0.22421	0.69	0.09310	N	1	B	0.26400	0.148	B	0.18871	0.023	T	0.28332	-1.0047	10	0.51188	T	0.08	-2.0444	3.7759	0.08660	0.221:0.5013:0.0:0.2778	.	22	Q8IUB2	WFDC3_HUMAN	M	22	ENSP00000243938:I22M;ENSP00000361713:I22M;ENSP00000361715:I22M	ENSP00000243938:I22M	I	-	3	3	WFDC3	43851956	0.733000	0.28132	0.014000	0.15608	0.209000	0.24338	0.078000	0.14761	-0.114000	0.11936	0.533000	0.62120	ATA		0.488	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1		
PLTP	5360	broad.mit.edu	37	20	44534981	44534981	+	Missense_Mutation	SNP	C	C	T	rs370983158		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44534981C>T	ENST00000477313.1	-	7	1225	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PLTP_ENST00000420868.2_Missense_Mutation_p.E116K|PLTP_ENST00000354050.4_Missense_Mutation_p.E159K|PLTP_ENST00000372420.1_Missense_Mutation_p.E123K|PLTP_ENST00000542937.1_Missense_Mutation_p.E231K|PLTP_ENST00000372431.3_Missense_Mutation_p.E211K			P55058	PLTP_HUMAN	phospholipid transfer protein	211					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.E211K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCAACAAGCTCGTCCACAGAA	0.562																																					p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	20						.						103.0	78.0	87.0					20																	44534981		2203	4300	6503	43968388	SO:0001583	missense	5360	exon8			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.631G>A	20.37:g.44534981C>T	ENSP00000417138:p.Glu211Lys		43968388	NM_006227	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	7.706	0.694073	0.15039	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	5.25	0.493	0.16878	Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.090600	0.06695	N	0.770434	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.19935	0.04;0.04;0.013;0.013;0.021;0.013;0.013	B;B;B;B;B;B;B	0.12156	0.003;0.003;0.005;0.003;0.007;0.003;0.003	T	0.46665	-0.9175	10	0.16420	T	0.52	-3.1236	7.9374	0.29937	0.0:0.5597:0.2841:0.1561	.	116;116;123;211;159;211;231	E7EV16;B4DRB4;B4DDD5;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;.;PLTP_HUMAN;.	K	123;211;159;211;231;116	ENSP00000361497:E123K;ENSP00000361508:E211K;ENSP00000335290:E159K;ENSP00000417138:E211K;ENSP00000440296:E231K;ENSP00000411671:E116K	ENSP00000335290:E159K	E	-	1	0	PLTP	43968388	0.000000	0.05858	0.004000	0.12327	0.767000	0.43475	-0.371000	0.07513	0.596000	0.29794	0.555000	0.69702	GAG		0.562	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	
PLTP	5360	broad.mit.edu	37	20	44539867	44539867	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44539867G>T	ENST00000477313.1	-	2	718	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	PLTP_ENST00000420868.2_Missense_Mutation_p.L42M|PLTP_ENST00000354050.4_Missense_Mutation_p.L42M|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000542937.1_Missense_Mutation_p.L62M|PLTP_ENST00000372431.3_Missense_Mutation_p.L42M			P55058	PLTP_HUMAN	phospholipid transfer protein	42					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.L42M(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TCTTGCTCCAGAAAGCGCAGC	0.617																																					p.L42M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124A	20						.						78.0	80.0	79.0					20																	44539867		2203	4300	6503	43973274	SO:0001583	missense	5360	exon3			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.124C>A	20.37:g.44539867G>T	ENSP00000417138:p.Leu42Met		43973274	NM_006227	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	ENST00000477313.1	37	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662327	0.67700	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	5.2	2.12	0.27331	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.065184	0.64402	D	0.000012	T	0.29491	0.0735	M	0.74881	2.28	0.34609	D	0.717416	D;D;D;D;D;D	0.71674	0.988;0.993;0.998;0.997;0.998;0.998	P;P;D;D;D;D	0.69479	0.691;0.855;0.964;0.939;0.964;0.964	T	0.35101	-0.9802	10	0.56958	D	0.05	-17.7892	6.0452	0.19755	0.2505:0.2354:0.5141:0.0	.	42;42;42;42;42;62	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	M	42;42;42;62;42	ENSP00000361508:L42M;ENSP00000335290:L42M;ENSP00000417138:L42M;ENSP00000440296:L62M;ENSP00000411671:L42M	ENSP00000335290:L42M	L	-	1	2	PLTP	43973274	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.119000	0.31258	0.755000	0.32990	0.563000	0.77884	CTG		0.617	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	
PLTP	5360	broad.mit.edu	37	20	44540080	44540080	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44540080G>A	ENST00000477313.1	-	1	606	c.12C>T	c.(10-12)ttC>ttT	p.F4F	PLTP_ENST00000420868.2_Silent_p.F4F|PLTP_ENST00000354050.4_Silent_p.F4F|PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000542937.1_Silent_p.F24F|PLTP_ENST00000372431.3_Silent_p.F4F			P55058	PLTP_HUMAN	phospholipid transfer protein	4					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.F4F(2)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGAGGGCCCCGAAGAGGGCCA	0.642																																					p.F4F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C12T	20						.						28.0	34.0	32.0					20																	44540080		2175	4269	6444	43973487	SO:0001819	synonymous_variant	5360	exon2			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.12C>T	20.37:g.44540080G>A			43973487	NM_006227	A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	CCDS13386.1																																																																																				0.642	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	
PCIF1	63935	broad.mit.edu	37	20	44569521	44569521	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44569521A>C	ENST00000372409.3	+	6	825	c.461A>C	c.(460-462)aAg>aCg	p.K154T		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	154					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.K154T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCAACGCTGAAGATGTGGGGT	0.552																																					p.K154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461C	20						.						103.0	93.0	97.0					20																	44569521		2203	4300	6503	44002928	SO:0001583	missense	63935	exon6			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.461A>C	20.37:g.44569521A>C	ENSP00000361486:p.Lys154Thr		44002928	NM_022104	E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260294	0.80246	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	L	0.51422	1.61	0.49213	D	0.999761	P	0.37466	0.596	B	0.26864	0.074	T	0.54682	-0.8257	9	0.59425	D	0.04	-32.9898	12.7964	0.57562	1.0:0.0:0.0:0.0	.	154	Q9H4Z3	PCIF1_HUMAN	T	154	.	ENSP00000361486:K154T	K	+	2	0	PCIF1	44002928	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.173000	0.65010	2.152000	0.67230	0.533000	0.62120	AAG		0.552	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
PCIF1	63935	broad.mit.edu	37	20	44571740	44571740	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44571740T>C	ENST00000372409.3	+	8	1042	c.678T>C	c.(676-678)atT>atC	p.I226I		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	226					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.I226I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTGCAGGCATTGAGCCTCCAC	0.547																																					p.I226I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T678C	20						.						44.0	38.0	40.0					20																	44571740		2203	4300	6503	44005147	SO:0001819	synonymous_variant	63935	exon8			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.678T>C	20.37:g.44571740T>C			44005147	NM_022104	E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	CCDS13388.1																																																																																				0.547	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	
MMP9	4318	broad.mit.edu	37	20	44639180	44639180	+	Missense_Mutation	SNP	G	G	A	rs199948478		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44639180G>A	ENST00000372330.3	+	3	449	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	144					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A144T(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CTTTGCCCGCGCCTTCGCACT	0.602																																					p.A144T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	20						.						46.0	46.0	46.0					20																	44639180		2203	4300	6503	44072587	SO:0001583	missense	4318	exon3				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.430G>A	20.37:g.44639180G>A	ENSP00000361405:p.Ala144Thr		44072587	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418671	0.96092	.	.	ENSG00000100985	ENST00000372330	T	0.41400	1.0	4.72	4.72	0.59763	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.100224	0.64402	D	0.000002	T	0.73598	0.3607	H	0.97516	4.02	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	D	0.84516	0.0625	10	0.87932	D	0	.	17.198	0.86899	0.0:0.0:1.0:0.0	.	144	P14780	MMP9_HUMAN	T	144	ENSP00000361405:A144T	ENSP00000361405:A144T	A	+	1	0	MMP9	44072587	1.000000	0.71417	0.999000	0.59377	0.682000	0.39822	9.317000	0.96327	2.597000	0.87782	0.555000	0.69702	GCC		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
MMP9	4318	broad.mit.edu	37	20	44642416	44642416	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44642416G>T	ENST00000372330.3	+	10	1750	c.1731G>T	c.(1729-1731)aaG>aaT	p.K577N	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	577					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K577N(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGCTCTCCAAGAAGCTTTTCT	0.607											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K577N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1731T	20						.						50.0	50.0	50.0					20																	44642416		2203	4300	6503	44075823	SO:0001583	missense	4318	exon10				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1731G>T	20.37:g.44642416G>T	ENSP00000361405:p.Lys577Asn	925	44075823	NM_004994	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875782	0.72180	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.02103	4.45	4.85	4.85	0.62838	Hemopexin/matrixin (2);	0.048577	0.85682	D	0.000000	T	0.03220	0.0094	L	0.49699	1.58	0.58432	D	0.999999	P	0.39116	0.66	B	0.32465	0.146	T	0.56013	-0.8049	10	0.42905	T	0.14	.	16.7107	0.85384	0.0:0.0:1.0:0.0	.	577	P14780	MMP9_HUMAN	N	577;147	ENSP00000361405:K577N	ENSP00000361405:K577N	K	+	3	2	MMP9	44075823	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.347000	0.52200	2.497000	0.84241	0.655000	0.94253	AAG		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
SLC12A5	57468	broad.mit.edu	37	20	44671881	44671881	+	Missense_Mutation	SNP	G	G	A	rs200798560		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44671881G>A	ENST00000454036.2	+	9	1274	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D386N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	409					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D386N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACTCCTATCGACATGGACCA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19769	0.0		0.001	False		,,,				2504	0.0				p.D386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	20						.						298.0	252.0	267.0					20																	44671881		2203	4300	6503	44105288	SO:0001583	missense	57468	exon9			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1225G>A	20.37:g.44671881G>A	ENSP00000387694:p.Asp409Asn		44105288	NM_020708	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.655	0.683796	0.14907	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84070	-1.8;-1.8	4.47	2.51	0.30379	.	0.251988	0.40728	N	0.001040	T	0.67449	0.2894	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.57900	-0.7731	10	0.20046	T	0.44	.	7.9208	0.29846	0.2631:0.0:0.7369:0.0	.	409;386	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	409;386	ENSP00000387694:D409N;ENSP00000243964:D386N	ENSP00000243964:D386N	D	+	1	0	SLC12A5	44105288	0.992000	0.36948	0.838000	0.33150	0.372000	0.29890	2.720000	0.47252	1.226000	0.43582	0.462000	0.41574	GAC		0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
CD40	958	broad.mit.edu	37	20	44751836	44751836	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:44751836G>A	ENST00000372285.3	+	5	547	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CD40_ENST00000372276.3_Missense_Mutation_p.E159K|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	159					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)	p.E159K(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				ATCTGCTTTCGAAAAATGTCA	0.532									Immune Deficiency with Hyper-IgM																												p.E159K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	20						.						238.0	220.0	226.0					20																	44751836		2203	4300	6503	44185243	SO:0001583	missense	958	exon5	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.475G>A	20.37:g.44751836G>A	ENSP00000361359:p.Glu159Lys		44185243	NM_001250	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176576	0.57692	.	.	ENSG00000101017	ENST00000372285;ENST00000372276	T;T	0.62788	-0.0;-0.0	4.76	4.76	0.60689	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.440664	0.22780	N	0.055739	T	0.74854	0.3771	M	0.67517	2.055	0.47584	D	0.999469	D;D	0.89917	1.0;0.999	D;P	0.68039	0.955;0.866	T	0.75566	-0.3273	10	0.51188	T	0.08	-19.735	13.1257	0.59354	0.0:0.0:1.0:0.0	.	159;159	P25942-2;P25942	.;TNR5_HUMAN	K	159	ENSP00000361359:E159K;ENSP00000361350:E159K	ENSP00000361350:E159K	E	+	1	0	CD40	44185243	0.997000	0.39634	0.936000	0.37596	0.037000	0.13140	3.282000	0.51693	2.475000	0.83589	0.471000	0.43371	GAA		0.532	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250	
SLC13A3	64849	broad.mit.edu	37	20	45216772	45216772	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45216772G>A	ENST00000279027.4	-	8	1065	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F	SLC13A3_ENST00000413164.2_Silent_p.F299F|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Silent_p.F302F|SLC13A3_ENST00000372121.1_Silent_p.F299F|SLC13A3_ENST00000495082.1_Silent_p.F302F|SLC13A3_ENST00000396360.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	349					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.F349F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAACATGCAGAAAAGGATGA	0.592																																					p.F299F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897T	20						.						91.0	82.0	85.0					20																	45216772		2203	4300	6503	44650179	SO:0001819	synonymous_variant	64849	exon7			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1047C>T	20.37:g.45216772G>A			44650179	NM_001193339	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	CCDS13400.1																																																																																				0.592	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
SLC13A3	64849	broad.mit.edu	37	20	45239190	45239190	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45239190C>T	ENST00000279027.4	-	3	454	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SLC13A3_ENST00000413164.2_Missense_Mutation_p.A146T|SLC13A3_ENST00000472148.1_Missense_Mutation_p.A99T|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.A99T|SLC13A3_ENST00000372121.1_Missense_Mutation_p.A146T|SLC13A3_ENST00000339636.3_Missense_Mutation_p.A146T|SLC13A3_ENST00000495082.1_Missense_Mutation_p.A99T|SLC13A3_ENST00000417157.2_Missense_Mutation_p.A99T|SLC13A3_ENST00000396360.1_Missense_Mutation_p.A99T	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	146					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.A146T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCAGTGGAGGCGGTGTTGCTC	0.547																																					p.A146T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G436A	20						.						183.0	164.0	170.0					20																	45239190		2203	4300	6503	44672597	SO:0001583	missense	64849	exon3			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.436G>A	20.37:g.45239190C>T	ENSP00000279027:p.Ala146Thr		44672597	NM_001193339	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749661	0.69533	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.03496	3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91;3.91	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.23846	0.0577	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.97;0.977;1.0;0.993	T	0.00402	-1.1762	10	0.87932	D	0	-29.4	20.0396	0.97574	0.0:1.0:0.0:0.0	.	146;99;99;99;146	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	T	99;99;146;99;146;99;99;109;146;99;146	ENSP00000290317:A99T;ENSP00000379648:A99T;ENSP00000279027:A146T;ENSP00000420177:A99T;ENSP00000415852:A146T;ENSP00000419621:A99T;ENSP00000417784:A99T;ENSP00000395095:A109T;ENSP00000361193:A146T;ENSP00000397955:A99T;ENSP00000344912:A146T	ENSP00000279027:A146T	A	-	1	0	SLC13A3	44672597	1.000000	0.71417	0.967000	0.41034	0.076000	0.17211	5.880000	0.69698	2.814000	0.96858	0.563000	0.77884	GCC		0.547	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
EYA2	2139	broad.mit.edu	37	20	45633581	45633581	+	Splice_Site	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45633581A>G	ENST00000327619.5	+	4	530	c.156A>G	c.(154-156)agA>agG	p.R52R	EYA2_ENST00000357410.3_Splice_Site_p.R52R|EYA2_ENST00000317304.6_Splice_Site_p.R52R	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	52					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.R52R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCCACACAGATCTTGCCCAC	0.557																																					p.R52R	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A156G	20						.						87.0	92.0	90.0					20																	45633581		2203	4300	6503	45066988	SO:0001630	splice_region_variant	2139	exon4				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.156-1A>G	20.37:g.45633581A>G			45066988	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				0.557	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	Silent
EYA2	2139	broad.mit.edu	37	20	45717939	45717939	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45717939G>A	ENST00000327619.5	+	8	1097	c.723G>A	c.(721-723)ccG>ccA	p.P241P	EYA2_ENST00000357410.3_Silent_p.P241P|EYA2_ENST00000317304.6_Silent_p.P241P	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	241					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.P241P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAGACAGGCCGCACCGGGCCT	0.572																																					p.P241P	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G723A	20						.						76.0	78.0	77.0					20																	45717939		2203	4300	6503	45151346	SO:0001819	synonymous_variant	2139	exon8				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.723G>A	20.37:g.45717939G>A			45151346	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	ENST00000327619.5	37	CCDS13403.1																																																																																				0.572	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
EYA2	2139	broad.mit.edu	37	20	45771716	45771716	+	Missense_Mutation	SNP	C	C	T	rs368297287		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45771716C>T	ENST00000327619.5	+	10	1281	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	EYA2_ENST00000357410.3_Missense_Mutation_p.R303C|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	303					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.R303C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GACGTCCGTGCGCATTGGCCT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19649	0.0		0.0	False		,,,				2504	0.0				p.R303C	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	20						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	197.0	148.0	165.0		907,907	4.0	1.0	20		165	0,8600		0,0,4300	no	missense,missense	EYA2	NM_005244.4,NM_172110.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	303/539,303/460	45771716	1,13005	2203	4300	6503	45205123	SO:0001583	missense	2139	exon10				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.907C>T	20.37:g.45771716C>T	ENSP00000333640:p.Arg303Cys		45205123	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953744	0.53293	2.27E-4	0.0	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.81821	-1.54;-1.54;-1.54	6.08	3.97	0.46021	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.105617	0.64402	D	0.000005	D	0.86155	0.5865	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.928;0.928	D	0.87928	0.2708	10	0.72032	D	0.01	-22.8238	15.728	0.77777	0.3686:0.6314:0.0:0.0	.	303;303;303	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	C	303;303;174	ENSP00000333640:R303C;ENSP00000349986:R303C;ENSP00000395427:R174C	ENSP00000333640:R303C	R	+	1	0	EYA2	45205123	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	0.791000	0.26915	1.521000	0.48983	0.655000	0.94253	CGC		0.488	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
ZMYND8	23613	broad.mit.edu	37	20	45919007	45919007	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:45919007C>A	ENST00000311275.7	-	7	865	c.612G>T	c.(610-612)aaG>aaT	p.K204N	ZMYND8_ENST00000471951.2_Missense_Mutation_p.K224N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K199N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K199N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K199N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K141N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K224N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K204N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K231N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K204N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K224N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K199N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K204N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	204	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K224N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CATACATTTTCTTTTTCGCAT	0.438																																					p.K224N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	20						.						97.0	82.0	87.0					20																	45919007		2203	4300	6503	45352414	SO:0001583	missense	23613	exon7			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.612G>T	20.37:g.45919007C>A	ENSP00000312237:p.Lys204Asn		45352414	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.833868|3.833868	0.71258|0.71258	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.27256	.|1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	6.16|6.16	5.22|5.22	0.72569|0.72569	.|Bromodomain (5);	.|0.047277	.|0.85682	.|D	.|0.000000	.|T	.|0.33059	.|0.0850	N|N	0.12502|0.12502	0.225|0.225	0.49213|0.49213	D|D	0.999769|0.999769	.|B;B;D;D;D;B;D;B;B;D;D;D;D;B;B;B;B	.|0.71674	.|0.389;0.151;0.994;0.994;0.998;0.014;0.996;0.151;0.021;0.996;0.997;0.994;0.994;0.424;0.028;0.182;0.182	.|B;B;D;D;D;B;P;B;B;D;D;D;D;P;B;B;B	.|0.71656	.|0.143;0.07;0.961;0.952;0.974;0.032;0.886;0.052;0.024;0.92;0.952;0.952;0.931;0.523;0.017;0.087;0.115	.|T	.|0.28332	.|-1.0047	.|10	.|0.36615	.|T	.|0.2	-24.9249|-24.9249	17.0691|17.0691	0.86568|0.86568	0.128:0.872:0.0:0.0|0.128:0.872:0.0:0.0	.|.	.|199;231;199;199;198;224;204;199;224;224;204;141;199;199;224;199;204	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	131|199;204;199;204;224;224;204;231;204;141;224;199;199	.|ENSP00000354166:K199N;ENSP00000312237:K204N;ENSP00000392964:K199N;ENSP00000262975:K204N;ENSP00000420095:K224N;ENSP00000335537:K224N;ENSP00000379577:K204N;ENSP00000439800:K231N;ENSP00000348246:K204N;ENSP00000396725:K141N;ENSP00000418210:K224N;ENSP00000361093:K199N;ENSP00000443086:K199N	.|ENSP00000262975:K204N	E|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45352414|45352414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	3.183000|3.183000	0.50918|0.50918	1.606000|1.606000	0.50161|0.50161	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.438	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
NCOA3	8202	broad.mit.edu	37	20	46252792	46252792	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:46252792A>C	ENST00000371998.3	+	4	412	c.221A>C	c.(220-222)gAa>gCa	p.E74A	NCOA3_ENST00000341724.6_Missense_Mutation_p.E74A|NCOA3_ENST00000372004.3_Missense_Mutation_p.E74A|NCOA3_ENST00000371997.3_Missense_Mutation_p.E74A			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	74	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.E74A(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATTTTAAAGGAAACAGTAAGA	0.358																																					p.E74A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221C	20						.						75.0	72.0	73.0					20																	46252792		2203	4300	6503	45686199	SO:0001583	missense	8202	exon4			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.221A>C	20.37:g.46252792A>C	ENSP00000361066:p.Glu74Ala		45686199	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	32	5.154802	0.94686	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02498	4.29;4.46;4.46;4.27	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;0.985;0.997;0.998	D;D;D;D;D	0.91635	0.999;0.968;0.949;0.986;0.968	T	0.00436	-1.1740	10	0.72032	D	0.01	-31.0307	16.8222	0.85835	1.0:0.0:0.0:0.0	.	74;78;74;74;74	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	A	74	ENSP00000342123:E74A;ENSP00000361073:E74A;ENSP00000361066:E74A;ENSP00000361065:E74A	ENSP00000345671:E74A	E	+	2	0	NCOA3	45686199	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAA		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
NCOA3	8202	broad.mit.edu	37	20	46255881	46255881	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:46255881G>T	ENST00000371998.3	+	6	684	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.D165Y|NCOA3_ENST00000372004.3_Missense_Mutation_p.D165Y|NCOA3_ENST00000371997.3_Missense_Mutation_p.D165Y			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	165	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.D165Y(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATGAAGAAGACAGAAAGGA	0.308																																					p.D165Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493T	20						.						86.0	83.0	84.0					20																	46255881		2203	4300	6503	45689288	SO:0001583	missense	8202	exon6			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.493G>T	20.37:g.46255881G>T	ENSP00000361066:p.Asp165Tyr		45689288	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826880	0.90955	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	6.17	6.17	0.99709	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.98;0.995;0.995;0.991;0.995	T	0.77970	-0.2387	10	0.87932	D	0	-29.5936	20.8794	0.99867	0.0:0.0:1.0:0.0	.	165;169;165;165;165	Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	Y	165	ENSP00000342123:D165Y;ENSP00000361073:D165Y;ENSP00000361066:D165Y;ENSP00000361065:D165Y	ENSP00000345671:D165Y	D	+	1	0	NCOA3	45689288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.308	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
NCOA3	8202	broad.mit.edu	37	20	46256397	46256397	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:46256397G>A	ENST00000371998.3	+	7	816	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000341724.6_Missense_Mutation_p.E209K|NCOA3_ENST00000372004.3_Missense_Mutation_p.E209K|NCOA3_ENST00000371997.3_Missense_Mutation_p.E209K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	209					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.E209K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGATATTCTGGAAGACATAAA	0.428																																					p.E209K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	20						.						101.0	98.0	99.0					20																	46256397		2203	4300	6503	45689804	SO:0001583	missense	8202	exon7			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.625G>A	20.37:g.46256397G>A	ENSP00000361066:p.Glu209Lys		45689804	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663136	0.96745	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02369	4.34;4.5;4.5;4.32	6.16	6.16	0.99307	.	0.220942	0.46758	D	0.000271	T	0.07458	0.0188	L	0.42245	1.32	0.80722	D	1	P;P;P;P;P;P	0.52061	0.578;0.95;0.578;0.578;0.523;0.578	P;P;P;P;P;P	0.48873	0.593;0.574;0.593;0.593;0.457;0.593	T	0.02190	-1.1198	10	0.72032	D	0.01	-22.2162	20.8598	0.99761	0.0:0.0:1.0:0.0	.	209;209;213;209;209;209	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	K	209	ENSP00000342123:E209K;ENSP00000361073:E209K;ENSP00000361066:E209K;ENSP00000361065:E209K	ENSP00000345671:E209K	E	+	1	0	NCOA3	45689804	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.727000	0.98787	2.937000	0.99478	0.650000	0.86243	GAA		0.428	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
NCOA3	8202	broad.mit.edu	37	20	46262273	46262273	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:46262273G>A	ENST00000371998.3	+	9	1048	c.857G>A	c.(856-858)aGa>aAa	p.R286K	NCOA3_ENST00000341724.6_Missense_Mutation_p.R286K|NCOA3_ENST00000372004.3_Missense_Mutation_p.R286K|NCOA3_ENST00000371997.3_Missense_Mutation_p.R286K			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	286					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R286K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATTCACTGAGATCCTCCATG	0.378																																					p.R286K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	20						.						84.0	89.0	87.0					20																	46262273		2203	4300	6503	45695680	SO:0001583	missense	8202	exon9			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.857G>A	20.37:g.46262273G>A	ENSP00000361066:p.Arg286Lys		45695680	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550909	0.86127	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.4	5.4	0.78164	.	0.057212	0.64402	D	0.000002	T	0.37571	0.1008	M	0.76170	2.325	0.53005	D	0.999969	P;P;P;P;P;P	0.49862	0.929;0.923;0.761;0.761;0.846;0.761	P;B;B;B;P;B	0.48089	0.566;0.364;0.299;0.299;0.494;0.299	T	0.31833	-0.9929	10	0.72032	D	0.01	-25.5358	19.1741	0.93597	0.0:0.0:1.0:0.0	.	286;286;290;286;286;286	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	K	286;286;286;286;286;52	ENSP00000342123:R286K;ENSP00000361073:R286K;ENSP00000361066:R286K;ENSP00000361065:R286K	ENSP00000345671:R286K	R	+	2	0	NCOA3	45695680	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.509000	0.81698	2.530000	0.85305	0.655000	0.94253	AGA		0.378	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
PRNP	5621	broad.mit.edu	37	20	4679943	4679943	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:4679943C>T	ENST00000379440.4	+	2	364	c.77C>T	c.(76-78)cCg>cTg	p.P26L	PRNP_ENST00000430350.2_Missense_Mutation_p.P26L	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0	Trp-rich.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.P26L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						AAGAAGCGCCCGAAGCCTGGA	0.627																																					p.P26L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C77T	20						.						39.0	49.0	45.0					20																	4679943		2200	4298	6498	4627943	SO:0001583	missense	5621	exon2			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.77C>T	20.37:g.4679943C>T	ENSP00000368752:p.Pro26Leu		4627943	NM_183079		Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664633	0.67700	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000457586	D;D;D;D	0.96334	-2.92;-2.92;-3.14;-3.98	5.02	5.02	0.67125	.	0.211349	0.32015	N	0.006706	D	0.97225	0.9093	L	0.54323	1.7	0.41406	D	0.987708	D;D;P	0.89917	1.0;0.998;0.875	D;D;B	0.91635	0.999;0.979;0.393	D	0.97781	1.0232	10	0.87932	D	0	-0.667	14.1892	0.65628	0.0:1.0:0.0:0.0	.	26;26;26	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	L	26	ENSP00000368752:P26L;ENSP00000399376:P26L;ENSP00000411599:P26L;ENSP00000415284:P26L	ENSP00000368752:P26L	P	+	2	0	PRNP	4627943	0.798000	0.28890	0.316000	0.25252	0.870000	0.49936	2.149000	0.42244	2.496000	0.84212	0.655000	0.94253	CCG		0.627	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311	
NCOA3	8202	broad.mit.edu	37	20	46275934	46275934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:46275934G>T	ENST00000371998.3	+	18	3561	c.3370G>T	c.(3370-3372)Gga>Tga	p.G1124*	NCOA3_ENST00000341724.6_Nonsense_Mutation_p.G1054*|NCOA3_ENST00000372004.3_Nonsense_Mutation_p.G1124*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.G1119*			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1124	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G1124*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCAATGCAAGGAGGCTTTCA	0.473																																					p.G1124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3370T	20						.						116.0	99.0	105.0					20																	46275934		2203	4300	6503	45709341	SO:0001587	stop_gained	8202	exon18			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3370G>T	20.37:g.46275934G>T	ENSP00000361066:p.Gly1124*		45709341	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Nonsense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	43	10.034015	0.99321	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	5.57	5.57	0.84162	.	0.074687	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.1331	19.6117	0.95608	0.0:0.0:1.0:0.0	.	.	.	.	X	1124;1054;1124;1124;1119	.	ENSP00000345671:G1124X	G	+	1	0	NCOA3	45709341	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.561000	0.53770	2.650000	0.89964	0.586000	0.80456	GGA		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
PREX1	57580	broad.mit.edu	37	20	47249038	47249038	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47249038C>T	ENST00000371941.3	-	34	4429	c.4407G>A	c.(4405-4407)acG>acA	p.T1469T	PREX1_ENST00000396220.1_Silent_p.T1469T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1469					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1469T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTCACCTTTCGTGAACAGCG	0.677																																					p.T1469T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4407A	20						.						44.0	43.0	43.0					20																	47249038		2203	4300	6503	46682445	SO:0001819	synonymous_variant	57580	exon34			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4407G>A	20.37:g.47249038C>T			46682445	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.677	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47258745	47258745	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47258745C>T	ENST00000371941.3	-	29	3758	c.3736G>A	c.(3736-3738)Gaa>Aaa	p.E1246K	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Missense_Mutation_p.E1246K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1246					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1246K(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTGGTCTCTTCGAAAGCCCGG	0.587																																					p.E1246K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3736A	20						.						107.0	98.0	101.0					20																	47258745		2203	4300	6503	46692152	SO:0001583	missense	57580	exon29			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3736G>A	20.37:g.47258745C>T	ENSP00000361009:p.Glu1246Lys		46692152	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.217559	0.79352	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.48522	0.81;0.81	5.4	5.4	0.78164	.	0.104988	0.39210	N	0.001440	T	0.47210	0.1433	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.33044	0.279;0.395	B;B	0.27380	0.051;0.079	T	0.51220	-0.8733	10	0.62326	D	0.03	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1246;543	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	K	1246	ENSP00000361009:E1246K;ENSP00000379522:E1246K	ENSP00000361009:E1246K	E	-	1	0	PREX1	46692152	1.000000	0.71417	0.954000	0.39281	0.618000	0.37518	7.379000	0.79691	2.538000	0.85594	0.639000	0.83563	GAA		0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
PREX1	57580	broad.mit.edu	37	20	47276508	47276508	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47276508C>T	ENST00000371941.3	-	16	1852	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	PREX1_ENST00000396220.1_Silent_p.Q610Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	610					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q610Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTTGCGAAGCTGTTTGTTCT	0.572																																					p.Q610Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1830A	20						.						181.0	139.0	153.0					20																	47276508		2203	4300	6503	46709915	SO:0001819	synonymous_variant	57580	exon16			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1830G>A	20.37:g.47276508C>T			46709915	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.572	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
ARFGEF2	10564	broad.mit.edu	37	20	47589745	47589745	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47589745T>C	ENST00000371917.4	+	12	1589	c.1589T>C	c.(1588-1590)tTt>tCt	p.F530S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	530					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.F530S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTAACATTTTTGAGCGCCTT	0.388																																					p.F530S	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1589C	20						.						99.0	95.0	96.0					20																	47589745		2203	4300	6503	47023152	SO:0001583	missense	10564	exon12			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1589T>C	20.37:g.47589745T>C	ENSP00000360985:p.Phe530Ser		47023152	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789584	0.90367	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.52057	0.68	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95004	3.61	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84430	0.0576	10	0.87932	D	0	.	15.6362	0.76953	0.0:0.0:0.0:1.0	.	530	Q9Y6D5	BIG2_HUMAN	S	530	ENSP00000360985:F530S	ENSP00000360985:F530S	F	+	2	0	ARFGEF2	47023152	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.040000	0.89188	2.090000	0.63153	0.460000	0.39030	TTT		0.388	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ARFGEF2	10564	broad.mit.edu	37	20	47607666	47607667	+	Missense_Mutation	DNP	CG	CG	TA	rs138056947		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47607666_47607667CG>TA	ENST00000371917.4	+	21	2904_2905	c.2904_2905CG>TA	c.(2902-2907)atCGac>atTAac	p.D969N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	969					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.I968>?(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGAAAAACATCGACACCATTAA	0.48																																					.	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Complex(1)	large_intestine(1)	c.2904_2905TA	20						.																																			47041074	SO:0001583	missense	10564	exon21			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	Exception_encountered	20.37:g.47607666_47607667delinsTA	ENSP00000360985:p.Asp969Asn		47041073	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	DNP	ENST00000371917.4	37	CCDS13411.1																																																																																				0.480	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
RASSF2	9770	broad.mit.edu	37	20	4764984	4764984	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:4764984T>C	ENST00000379400.3	-	12	1111	c.916A>G	c.(916-918)Acc>Gcc	p.T306A	RASSF2_ENST00000379376.2_Missense_Mutation_p.T306A|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	306	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T306A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CGGAGCACGGTGTACCTGGAG	0.592																																					p.T306A	Melanoma(158;1891 3343 50738)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A916G	20						.						99.0	89.0	92.0					20																	4764984		2203	4300	6503	4712984	SO:0001583	missense	9770	exon11			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.916A>G	20.37:g.4764984T>C	ENSP00000368710:p.Thr306Ala		4712984	NM_170774	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	T	7.685	0.689863	0.15039	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.09163	3.01;3.01	5.21	5.21	0.72293	SARAH (1);	0.334600	0.34067	N	0.004296	T	0.05090	0.0136	N	0.12182	0.205	0.43175	D	0.994981	B	0.10296	0.003	B	0.10450	0.005	T	0.24905	-1.0147	10	0.06365	T	0.9	.	8.4109	0.32642	0.1739:0.0:0.0:0.8261	.	306	P50749	RASF2_HUMAN	A	306	ENSP00000368710:T306A;ENSP00000368684:T306A	ENSP00000368684:T306A	T	-	1	0	RASSF2	4712984	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	2.719000	0.47244	2.186000	0.69663	0.533000	0.62120	ACC		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
RASSF2	9770	broad.mit.edu	37	20	4766954	4766954	+	Silent	SNP	G	G	A	rs200418178	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:4766954G>A	ENST00000379400.3	-	11	1029	c.834C>T	c.(832-834)ttC>ttT	p.F278F	RASSF2_ENST00000379376.2_Silent_p.F278F|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	278	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F278F(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCGGCATCTCGAACTTTATAT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20066	0.0		0.0	False		,,,				2504	0.0				p.F278F	Melanoma(158;1891 3343 50738)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C834T	20						.						146.0	161.0	156.0					20																	4766954		2203	4300	6503	4714954	SO:0001819	synonymous_variant	9770	exon10			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.834C>T	20.37:g.4766954G>A			4714954	NM_170774	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	CCDS13083.1																																																																																				0.468	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
ARFGEF2	10564	broad.mit.edu	37	20	47645144	47645144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47645144C>T	ENST00000371917.4	+	37	5002	c.5002C>T	c.(5002-5004)Cga>Tga	p.R1668*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1668					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1668*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATCCTGTTTCGAATGTATGT	0.388																																					p.R1668X	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5002T	20						.						84.0	80.0	81.0					20																	47645144		2203	4300	6503	47078551	SO:0001587	stop_gained	10564	exon37			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5002C>T	20.37:g.47645144C>T	ENSP00000360985:p.Arg1668*		47078551	NM_006420	Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	44	10.958251	0.99494	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.71	4.75	0.60458	.	0.060119	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6488	0.77076	0.1423:0.8577:0.0:0.0	.	.	.	.	X	1668	.	ENSP00000360985:R1668X	R	+	1	2	ARFGEF2	47078551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.895000	0.56258	1.366000	0.46076	0.655000	0.94253	CGA		0.388	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
STAU1	6780	broad.mit.edu	37	20	47782583	47782583	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47782583T>G	ENST00000371856.2	-	3	566	c.156A>C	c.(154-156)caA>caC	p.Q52H	STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000347458.5_Intron|STAU1_ENST00000371792.1_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000340954.7_Intron	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	52					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.Q52H(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAGCAGAGTTTTGAATGGGTC	0.418																																					p.Q52H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A156C	20						.						197.0	201.0	200.0					20																	47782583		2203	4300	6503	47215990	SO:0001583	missense	6780	exon3				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.156A>C	20.37:g.47782583T>G	ENSP00000360922:p.Gln52His		47215990	NM_017453	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451121	0.43531	.	.	ENSG00000124214	ENST00000371856	T	0.36340	1.26	5.96	2.38	0.29361	.	0.317648	0.32357	N	0.006217	T	0.21550	0.0519	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.04579	-1.0941	10	0.41790	T	0.15	-8.3595	6.991	0.24755	0.0:0.1878:0.1144:0.6978	.	52	O95793	STAU1_HUMAN	H	52	ENSP00000360922:Q52H	ENSP00000360922:Q52H	Q	-	3	2	STAU1	47215990	0.998000	0.40836	0.999000	0.59377	0.961000	0.63080	0.410000	0.21098	0.127000	0.18452	0.533000	0.62120	CAA		0.418	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
ZNFX1	57169	broad.mit.edu	37	20	47864158	47864158	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47864158G>T	ENST00000396105.1	-	14	5649	c.5403C>A	c.(5401-5403)ttC>ttA	p.F1801L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.F1801L|ZNFX1_ENST00000469991.1_5'Flank|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1801							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1801L(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTCTTGGGTGAACTTACATG	0.478																																					p.F1801L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5403A	20						.						143.0	144.0	143.0					20																	47864158		2203	4300	6503	47297565	SO:0001583	missense	57169	exon14			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5403C>A	20.37:g.47864158G>T	ENSP00000379412:p.Phe1801Leu		47297565	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893085	0.52121	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.85861	-2.04;-2.04	6.17	4.22	0.49857	.	0.053649	0.85682	D	0.000000	D	0.88183	0.6368	L	0.59436	1.845	0.42989	D	0.994481	D	0.63880	0.993	P	0.60682	0.878	D	0.85534	0.1211	10	0.26408	T	0.33	-24.6932	12.3692	0.55246	0.1382:0.0:0.8618:0.0	.	1801	Q9P2E3	ZNFX1_HUMAN	L	1801	ENSP00000360817:F1801L;ENSP00000379412:F1801L	ENSP00000360817:F1801L	F	-	3	2	ZNFX1	47297565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.838000	0.55828	0.924000	0.37069	-0.140000	0.14226	TTC		0.478	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47872433	47872433	+	Missense_Mutation	SNP	G	G	A	rs553344985		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47872433G>A	ENST00000396105.1	-	9	2962	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R906C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R906C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	906							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R906C(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCAGTTTGCGAAGCTCATCC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		22358	0.0		0.0	False		,,,				2504	0.001				p.R906C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2716T	20						.						184.0	133.0	150.0					20																	47872433		2203	4300	6503	47305840	SO:0001583	missense	57169	exon9			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2716C>T	20.37:g.47872433G>A	ENSP00000379412:p.Arg906Cys		47305840	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822292	0.71028	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	T;D;D;T	0.87103	1.76;-2.21;-2.21;-0.88	5.74	5.74	0.90152	.	0.390499	0.28119	N	0.016535	D	0.86401	0.5924	L	0.52126	1.63	0.40286	D	0.978456	D	0.61697	0.99	P	0.47376	0.545	D	0.87865	0.2667	10	0.66056	D	0.02	-11.7563	13.4489	0.61158	0.0:0.0:0.8432:0.1568	.	906	Q9P2E3	ZNFX1_HUMAN	C	906	ENSP00000360819:R906C;ENSP00000360817:R906C;ENSP00000379412:R906C;ENSP00000360809:R906C	ENSP00000360809:R906C	R	-	1	0	ZNFX1	47305840	0.942000	0.31987	1.000000	0.80357	0.484000	0.33280	1.874000	0.39568	2.709000	0.92574	0.655000	0.94253	CGC		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47881340	47881340	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47881340G>A	ENST00000396105.1	-	5	2310	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	ZNFX1_ENST00000371752.1_Silent_p.I688I|ZNFX1_ENST00000371754.4_Silent_p.I688I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	688							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I688I(4)|p.I492I(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGCTTCAGGATTTCACTGT	0.552																																					p.I688I												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C2064T	20						.						173.0	141.0	151.0					20																	47881340		2203	4300	6503	47314747	SO:0001819	synonymous_variant	57169	exon5			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2064C>T	20.37:g.47881340G>A			47314747	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	CCDS13417.1																																																																																				0.552	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47882686	47882686	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47882686T>C	ENST00000396105.1	-	4	2234	c.1988A>G	c.(1987-1989)gAc>gGc	p.D663G	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D663G|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D663G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	663							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D663G(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGAAACTGGTCCAAAGCATG	0.393																																					p.D663G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1988G	20						.						98.0	95.0	96.0					20																	47882686		2203	4300	6503	47316093	SO:0001583	missense	57169	exon4			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1988A>G	20.37:g.47882686T>C	ENSP00000379412:p.Asp663Gly		47316093	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.879983	0.91740	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97629	1.0141	10	0.87932	D	0	-32.7924	15.4485	0.75253	0.0:0.0:0.0:1.0	.	663	Q9P2E3	ZNFX1_HUMAN	G	663;663;663;663;663;467	ENSP00000360819:D663G;ENSP00000360817:D663G;ENSP00000379412:D663G;ENSP00000360809:D663G;ENSP00000413800:D467G	ENSP00000360809:D663G	D	-	2	0	ZNFX1	47316093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.395000	0.79876	2.323000	0.78572	0.528000	0.53228	GAC		0.393	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
ZNFX1	57169	broad.mit.edu	37	20	47887775	47887775	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47887775G>A	ENST00000396105.1	-	3	820	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R192W|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R192W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	192							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R192W(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAGCCTTCCGAAGAACCTGA	0.448																																					p.R192W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C574T	20						.						110.0	113.0	112.0					20																	47887775		2203	4300	6503	47321182	SO:0001583	missense	57169	exon3			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.574C>T	20.37:g.47887775G>A	ENSP00000379412:p.Arg192Trp		47321182	NM_021035	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814701	0.50527	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.86	3.72	0.42706	.	0.166435	0.53938	D	0.000058	T	0.69531	0.3121	L	0.56769	1.78	0.35896	D	0.830042	D	0.65815	0.995	P	0.53490	0.727	T	0.77493	-0.2567	10	0.66056	D	0.02	-23.9939	9.187	0.37176	0.0744:0.0:0.6497:0.2759	.	192	Q9P2E3	ZNFX1_HUMAN	W	192	ENSP00000360819:R192W;ENSP00000360817:R192W;ENSP00000379412:R192W;ENSP00000360809:R192W	ENSP00000360809:R192W	R	-	1	2	ZNFX1	47321182	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.955000	0.40372	1.468000	0.48064	0.655000	0.94253	CGG		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035	
KCNB1	3745	broad.mit.edu	37	20	47990141	47990141	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:47990141G>T	ENST00000371741.4	-	2	2122	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	652					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.F652L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCTCGATGAAGAAACTAGAGT	0.572																																					p.F652L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1956A	20						.						49.0	50.0	50.0					20																	47990141		2203	4300	6503	47423548	SO:0001583	missense	3745	exon2			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1956C>A	20.37:g.47990141G>T	ENSP00000360806:p.Phe652Leu		47423548	NM_004975	Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	1.185	-0.637085	0.03557	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.22134	1.97	5.7	5.7	0.88788	.	1.176120	0.05811	N	0.614031	T	0.21841	0.0526	L	0.51422	1.61	0.42521	D	0.993009	B	0.06786	0.001	B	0.09377	0.004	T	0.27938	-1.0059	10	0.11182	T	0.66	.	10.0263	0.42074	0.151:0.0:0.849:0.0	.	652	Q14721	KCNB1_HUMAN	L	652;607	ENSP00000360806:F652L	ENSP00000360806:F652L	F	-	3	2	KCNB1	47423548	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.774000	0.47694	2.692000	0.91855	0.655000	0.94253	TTC		0.572	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
SLC9A8	23315	broad.mit.edu	37	20	48456127	48456127	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:48456127G>A	ENST00000361573.2	+	4	381	c.339G>A	c.(337-339)gcG>gcA	p.A113A	SLC9A8_ENST00000417961.1_Silent_p.A113A|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	113					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)	p.A113A(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			AAAAACTGGCGAATTGGAAGG	0.299																																					p.A113A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G339A	20						.						76.0	83.0	80.0					20																	48456127		2203	4300	6503	47889534	SO:0001819	synonymous_variant	23315	exon4			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.339G>A	20.37:g.48456127G>A			47889534	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																				0.299	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
SPATA2	9825	broad.mit.edu	37	20	48523206	48523206	+	Silent	SNP	G	G	A	rs143602566		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:48523206G>A	ENST00000422556.1	-	3	862	c.513C>T	c.(511-513)gtC>gtT	p.V171V	SPATA2_ENST00000289431.5_Silent_p.V171V|SPATA2_ENST00000543716.1_Silent_p.V34V	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	171					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.V171V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTCACACTCGACTTTGGCCA	0.547																																					p.V171V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C513T	20						.	G	,	0,4406		0,0,2203	66.0	63.0	64.0		513,513	-8.0	0.7	20	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SPATA2	NM_001135773.1,NM_006038.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	171/521,171/521	48523206	1,13005	2203	4300	6503	47956613	SO:0001819	synonymous_variant	9825	exon3			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.513C>T	20.37:g.48523206G>A			47956613	NM_001135773	E1P626|O94857	Silent	SNP	ENST00000422556.1	37	CCDS13422.1																																																																																				0.547	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038	
UBE2V1	7335	broad.mit.edu	37	20	48700676	48700676	+	Missense_Mutation	SNP	G	G	T	rs544624018		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:48700676G>T	ENST00000371674.3	-	3	331	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	UBE2V1_ENST00000371677.3_Missense_Mutation_p.S119Y|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S119Y|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S319Y|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S52Y|UBE2V1_ENST00000396059.3_5'UTR|TMEM189_ENST00000557021.1_Missense_Mutation_p.S319Y|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S52Y|UBE2V1_ENST00000371657.5_Intron	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	96					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)	p.S319Y(1)|p.S119Y(1)		endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			CACTCCATTAGAACTATTTAC	0.383																																					p.S119Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C356A	20						.						96.0	97.0	96.0					20																	48700676		2203	4300	6503	48134083	SO:0001583	missense	387522	exon3			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.287C>A	20.37:g.48700676G>T	ENSP00000360739:p.Ser96Tyr		48134083	NM_021988	E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932337	0.92389	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T	0.38887	2.76;2.76;2.76;1.11;2.76;1.11;2.76	5.49	5.49	0.81192	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.51477	U	0.000096	T	0.69522	0.3120	M	0.82323	2.585	0.80722	D	1	D;D;P;P	0.89917	1.0;0.984;0.929;0.75	D;D;D;P	0.85130	0.997;0.935;0.915;0.86	T	0.73094	-0.4091	10	0.62326	D	0.03	-9.4273	19.3809	0.94532	0.0:0.0:1.0:0.0	.	319;119;52;96	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	Y	319;96;119;52;119;52;52;319	ENSP00000344166:S319Y;ENSP00000360739:S96Y;ENSP00000340305:S119Y;ENSP00000407770:S52Y;ENSP00000360742:S119Y;ENSP00000395264:S52Y;ENSP00000450635:S319Y	ENSP00000344166:S319Y	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48134083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.573000	0.86826	0.650000	0.86243	TCT		0.383	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988	
PTPN1	5770	broad.mit.edu	37	20	49191098	49191098	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49191098G>T	ENST00000371621.3	+	5	573	c.399G>T	c.(397-399)atG>atT	p.M133I	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Missense_Mutation_p.M60I	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	133	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.M133I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	aaaaagagatgatctttgaag	0.338																																					p.M133I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G399T	20						.						82.0	82.0	82.0					20																	49191098		2203	4300	6503	48624505	SO:0001583	missense	5770	exon5				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.399G>T	20.37:g.49191098G>T	ENSP00000360683:p.Met133Ile		48624505	NM_002827	Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228526	0.58777	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.83419	-1.72;-1.72	5.37	5.37	0.77165	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	L	0.47078	1.49	0.53688	D	0.999977	B	0.12013	0.005	B	0.19666	0.026	T	0.76013	-0.3114	10	0.52906	T;T	0.07;0.07	.	18.0368	0.89307	0.0:0.0:1.0:0.0	.	133	P18031	PTN1_HUMAN	I	133;60	ENSP00000360683:M133I;ENSP00000437732:M60I	ENSP00000360683:M133I;ENSP00000360683:M133I	M	+	3	0	PTPN1	48624505	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.050000	0.76620	2.676000	0.91093	0.561000	0.74099	ATG		0.338	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2		
ADNP	23394	broad.mit.edu	37	20	49508261	49508261	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49508261G>T	ENST00000396029.3	-	5	3557	c.2990C>A	c.(2989-2991)tCt>tAt	p.S997Y	ADNP_ENST00000396032.3_Missense_Mutation_p.S997Y|ADNP_ENST00000371602.4_Missense_Mutation_p.S997Y|ADNP_ENST00000349014.3_Missense_Mutation_p.S997Y	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	997					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S997Y(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AGACTCGTCAGACCAGGTTCC	0.493																																					p.S997Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2990A	20						.						106.0	95.0	99.0					20																	49508261		2203	4300	6503	48941668	SO:0001583	missense	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2990C>A	20.37:g.49508261G>T	ENSP00000379346:p.Ser997Tyr		48941668	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710512	0.30322	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.17	6.17	0.99709	.	0.095171	0.46145	D	0.000301	T	0.28034	0.0691	N	0.08118	0	0.35570	D	0.805367	B	0.32693	0.38	B	0.25140	0.058	T	0.40776	-0.9545	9	0.59425	D	0.04	0.3422	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	997	Q9H2P0	ADNP_HUMAN	Y	997	.	ENSP00000342905:S997Y	S	-	2	0	ADNP	48941668	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	5.119000	0.64679	2.941000	0.99782	0.655000	0.94253	TCT		0.493	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ADNP	23394	broad.mit.edu	37	20	49508542	49508542	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49508542G>T	ENST00000396029.3	-	5	3276	c.2709C>A	c.(2707-2709)atC>atA	p.I903I	ADNP_ENST00000396032.3_Silent_p.I903I|ADNP_ENST00000371602.4_Silent_p.I903I|ADNP_ENST00000349014.3_Silent_p.I903I	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	903					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I903I(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TATCGTTAGAGATTTTAGGTT	0.398																																					p.I903I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2709A	20						.						148.0	148.0	148.0					20																	49508542		2203	4300	6503	48941949	SO:0001819	synonymous_variant	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2709C>A	20.37:g.49508542G>T			48941949	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																				0.398	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ADNP	23394	broad.mit.edu	37	20	49509723	49509723	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49509723G>T	ENST00000396029.3	-	5	2095	c.1528C>A	c.(1528-1530)Cat>Aat	p.H510N	ADNP_ENST00000396032.3_Missense_Mutation_p.H510N|ADNP_ENST00000371602.4_Missense_Mutation_p.H510N|ADNP_ENST00000349014.3_Missense_Mutation_p.H510N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	510					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H510N(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GACAGACCATGAATTAACATA	0.398																																					p.H510N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1528A	20						.						184.0	186.0	185.0					20																	49509723		2203	4300	6503	48943130	SO:0001583	missense	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1528C>A	20.37:g.49509723G>T	ENSP00000379346:p.His510Asn		48943130	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486161	0.63962	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	6.01	0.97437	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	L	0.49126	1.545	0.58432	D	0.999999	D	0.69078	0.997	D	0.79784	0.993	T	0.76454	-0.2953	9	0.72032	D	0.01	-1.8897	20.5211	0.99222	0.0:0.0:1.0:0.0	.	510	Q9H2P0	ADNP_HUMAN	N	510	.	ENSP00000342905:H510N	H	-	1	0	ADNP	48943130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.861000	0.98227	0.650000	0.86243	CAT		0.398	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
ADNP	23394	broad.mit.edu	37	20	49509856	49509856	+	Silent	SNP	G	G	A	rs375629425		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49509856G>A	ENST00000396029.3	-	5	1962	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	ADNP_ENST00000396032.3_Silent_p.F465F|ADNP_ENST00000371602.4_Silent_p.F465F|ADNP_ENST00000349014.3_Silent_p.F465F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	465					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F465F(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTCTTTTTCGAAGTGCACAC	0.388																																					p.F465F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1395T	20						.	G	,	1,4405	2.1+/-5.4	0,1,2202	156.0	164.0	161.0		1395,1395	3.6	1.0	20		161	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADNP	NM_015339.2,NM_181442.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	465/1103,465/1103	49509856	1,13005	2203	4300	6503	48943263	SO:0001819	synonymous_variant	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1395C>T	20.37:g.49509856G>A			48943263	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																				0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
KCNG1	3755	broad.mit.edu	37	20	49626408	49626408	+	Silent	SNP	G	G	A	rs147442458		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:49626408G>A	ENST00000371571.4	-	2	753	c.468C>T	c.(466-468)atC>atT	p.I156I	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Silent_p.I156I	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	156					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.I156I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTCCTCCGCGATGCCCCAGT	0.662																																					p.I156I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	20						.	G		0,4404		0,0,2202	39.0	40.0	40.0		468	3.6	1.0	20	dbSNP_134	40	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	KCNG1	NM_002237.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		156/514	49626408	1,12999	2202	4298	6500	49059815	SO:0001819	synonymous_variant	3755	exon2			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.468C>T	20.37:g.49626408G>A			49059815	NM_002237	A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	CCDS13436.1																																																																																				0.662	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237	
NFATC2	4773	broad.mit.edu	37	20	50048815	50048815	+	Silent	SNP	G	G	A	rs199948885		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:50048815G>A	ENST00000396009.3	-	9	2730	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	NFATC2_ENST00000609943.1_Silent_p.F817F|NFATC2_ENST00000609507.1_Silent_p.F618F|NFATC2_ENST00000371564.3_Silent_p.F837F|NFATC2_ENST00000610033.1_Silent_p.F618F|NFATC2_ENST00000414705.1_Silent_p.F817F	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	837					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F837F(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCCTGGTGCGAAATTCTCGC	0.617																																					p.F837F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2511T	20						.	G	,,	0,4406		0,0,2203	66.0	65.0	65.0		2451,2511,2511	-3.1	0.0	20		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	817/902,837/922,837/926	50048815	1,13005	2203	4300	6503	49482222	SO:0001819	synonymous_variant	4773	exon9			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2511C>T	20.37:g.50048815G>A			49482222	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	CCDS13437.1																																																																																				0.617	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
ATP9A	10079	broad.mit.edu	37	20	50217793	50217793	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:50217793C>T	ENST00000338821.5	-	28	3365	c.3101G>A	c.(3100-3102)cGa>cAa	p.R1034Q	ATP9A_ENST00000402822.1_Missense_Mutation_p.R913Q|ATP9A_ENST00000311637.5_Missense_Mutation_p.R898Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	1034					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1034Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAACCGTCTTCGCAGGTACTT	0.567																																					p.R1034Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3101A	20						.						76.0	58.0	64.0					20																	50217793		2203	4300	6503	49651200	SO:0001583	missense	10079	exon28			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.3101G>A	20.37:g.50217793C>T	ENSP00000342481:p.Arg1034Gln		49651200	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084718	0.76642	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.36520	1.25;1.25;1.25	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.31804	0.96	0.80722	D	1	P;P	0.46327	0.876;0.776	B;B	0.36092	0.132;0.217	T	0.11567	-1.0582	10	0.48119	T	0.1	-13.0378	18.4646	0.90750	0.0:1.0:0.0:0.0	.	913;1034	O75110-2;O75110	.;ATP9A_HUMAN	Q	898;1034;913	ENSP00000309086:R898Q;ENSP00000342481:R1034Q;ENSP00000385875:R913Q	ENSP00000309086:R898Q	R	-	2	0	ATP9A	49651200	1.000000	0.71417	0.958000	0.39756	0.965000	0.64279	7.760000	0.85248	2.434000	0.82447	0.655000	0.94253	CGA		0.567	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
ATP9A	10079	broad.mit.edu	37	20	50292678	50292678	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:50292678C>T	ENST00000338821.5	-	10	1133	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	ATP9A_ENST00000402822.1_Missense_Mutation_p.R169Q|ATP9A_ENST00000311637.5_Missense_Mutation_p.R154Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	290					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R290Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CACCTTACTTCGGGGATTTGA	0.438																																					p.R290Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869A	20						.						92.0	84.0	87.0					20																	50292678		2203	4300	6503	49726085	SO:0001583	missense	10079	exon10			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.869G>A	20.37:g.50292678C>T	ENSP00000342481:p.Arg290Gln		49726085	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999953	0.74818	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.89810	-2.38;-2.57;-2.38	5.61	5.61	0.85477	ATPase, P-type, ATPase-associated domain (1);	0.050166	0.85682	D	0.000000	D	0.88164	0.6363	L	0.50993	1.605	0.46203	D	0.998921	P;P	0.46512	0.879;0.489	B;B	0.42386	0.133;0.386	D	0.88899	0.3351	10	0.56958	D	0.05	-15.1243	19.6283	0.95689	0.0:1.0:0.0:0.0	.	169;290	O75110-2;O75110	.;ATP9A_HUMAN	Q	154;290;169	ENSP00000309086:R154Q;ENSP00000342481:R290Q;ENSP00000385875:R169Q	ENSP00000309086:R154Q	R	-	2	0	ATP9A	49726085	0.998000	0.40836	0.637000	0.29366	0.702000	0.40608	4.598000	0.61069	2.627000	0.88993	0.655000	0.94253	CGA		0.438	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
ZFP64	55734	broad.mit.edu	37	20	50769234	50769234	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:50769234G>T	ENST00000216923.4	-	6	1846	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	ZFP64_ENST00000346617.4_Silent_p.I445I|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.I497I	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	499					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.I499I(2)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAACGATGATTTTGACTC	0.657																																					p.I499I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1497A	20						.						29.0	31.0	30.0					20																	50769234		2203	4300	6503	50202641	SO:0001819	synonymous_variant	55734	exon6			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1497C>A	20.37:g.50769234G>T			50202641	NM_018197	Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	CCDS13440.1																																																																																				0.657	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
ZNF217	7764	broad.mit.edu	37	20	52193013	52193013	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:52193013C>A	ENST00000371471.2	-	4	2715	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.D764Y			O75362	ZN217_HUMAN	zinc finger protein 217	764					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D764Y(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGAGGCACATCTTTTCCCAGC	0.527																																					p.D764Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2290T	20						.						64.0	63.0	63.0					20																	52193013		2203	4300	6503	51626420	SO:0001583	missense	7764	exon3			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2290G>T	20.37:g.52193013C>A	ENSP00000360526:p.Asp764Tyr		51626420	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290765	0.80914	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.16324	2.35;2.35	5.45	5.45	0.79879	.	0.070853	0.56097	D	0.000022	T	0.44456	0.1294	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.37709	-0.9694	10	0.87932	D	0	-44.5444	18.8963	0.92424	0.0:1.0:0.0:0.0	.	764	O75362	ZN217_HUMAN	Y	764	ENSP00000360526:D764Y;ENSP00000304308:D764Y	ENSP00000304308:D764Y	D	-	1	0	ZNF217	51626420	1.000000	0.71417	0.024000	0.17045	0.017000	0.09413	7.092000	0.76930	2.553000	0.86117	0.555000	0.69702	GAT		0.527	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
ZNF217	7764	broad.mit.edu	37	20	52198015	52198015	+	Missense_Mutation	SNP	C	C	T	rs200131894		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:52198015C>T	ENST00000371471.2	-	2	1776	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.E451K			O75362	ZN217_HUMAN	zinc finger protein 217	451					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E451K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGATTCCTTCGGGAAGCCCA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		15468	0.0		0.001	False		,,,				2504	0.0				p.E451K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1351A	20						.						66.0	62.0	63.0					20																	52198015		2203	4300	6503	51631422	SO:0001583	missense	7764	exon1			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1351G>A	20.37:g.52198015C>T	ENSP00000360526:p.Glu451Lys		51631422	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.46	2.541356	0.45280	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10005	2.92;2.92	5.7	5.7	0.88788	.	0.494970	0.22437	N	0.060078	T	0.10723	0.0262	L	0.47716	1.5	0.39132	D	0.961874	P	0.48640	0.913	B	0.34038	0.174	T	0.13098	-1.0522	10	0.38643	T	0.18	-22.3892	17.6057	0.88036	0.0:1.0:0.0:0.0	.	451	O75362	ZN217_HUMAN	K	451	ENSP00000360526:E451K;ENSP00000304308:E451K	ENSP00000304308:E451K	E	-	1	0	ZNF217	51631422	0.988000	0.35896	0.199000	0.23439	0.303000	0.27691	6.374000	0.73132	2.686000	0.91538	0.591000	0.81541	GAA		0.602	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
PROKR2	128674	broad.mit.edu	37	20	5282738	5282738	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:5282738C>A	ENST00000217270.3	-	2	1102	c.1103G>T	c.(1102-1104)aGa>aTa	p.R368I	PROKR2_ENST00000546004.1_Missense_Mutation_p.R368I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	368					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R368I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCCGTTGGTTCTGAGGTCAAG	0.542										HNSCC(71;0.22)																											p.R368I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1103T	20						.						151.0	126.0	135.0					20																	5282738		2203	4300	6503	5230738	SO:0001583	missense	128674	exon2			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1103G>T	20.37:g.5282738C>A	ENSP00000217270:p.Arg368Ile		5230738	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070465	0.20147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.71698	-0.59;-0.59	5.2	-0.0662	0.13765	.	0.176394	0.51477	D	0.000093	T	0.56702	0.2003	L	0.40543	1.245	0.34295	D	0.683731	P	0.36330	0.548	B	0.35470	0.203	T	0.60296	-0.7291	10	0.72032	D	0.01	.	8.6631	0.34103	0.0:0.3282:0.0:0.6718	.	368	Q8NFJ6	PKR2_HUMAN	I	368	ENSP00000440790:R368I;ENSP00000217270:R368I	ENSP00000217270:R368I	R	-	2	0	PROKR2	5230738	0.968000	0.33430	0.560000	0.28344	0.017000	0.09413	0.675000	0.25232	-0.247000	0.09597	-0.290000	0.09829	AGA		0.542	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
PROKR2	128674	broad.mit.edu	37	20	5283115	5283115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:5283115G>T	ENST00000217270.3	-	2	725	c.726C>A	c.(724-726)tgC>tgA	p.C242*	PROKR2_ENST00000546004.1_Nonsense_Mutation_p.C242*	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	242					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.C242*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCCTGGCATAGCACAGGGTCA	0.597										HNSCC(71;0.22)																											p.C242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C726A	20						.						91.0	84.0	86.0					20																	5283115		2203	4300	6503	5231115	SO:0001587	stop_gained	128674	exon2			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.726C>A	20.37:g.5283115G>T	ENSP00000217270:p.Cys242*		5231115	NM_144773	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Nonsense_Mutation	SNP	ENST00000217270.3	37	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	37	6.073376	0.97256	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	.	.	.	5.16	2.91	0.33838	.	0.088999	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.123	0.20164	0.1332:0.1983:0.6685:0.0	.	.	.	.	X	242	.	ENSP00000217270:C242X	C	-	3	2	PROKR2	5231115	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.494000	0.22467	1.151000	0.42436	0.655000	0.94253	TGC		0.597	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
CYP24A1	1591	broad.mit.edu	37	20	52775534	52775534	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:52775534A>C	ENST00000216862.3	-	8	1512	c.1119T>G	c.(1117-1119)aaT>aaG	p.N373K	CYP24A1_ENST00000395954.3_Missense_Mutation_p.N231K|CYP24A1_ENST00000395955.3_Missense_Mutation_p.N373K|CYP24A1_ENST00000460643.1_5'Flank	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	373					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.N373K(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AATACGGCATATTCCTCAAAT	0.388																																					p.N373K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1119G	20						.						129.0	135.0	133.0					20																	52775534		2203	4300	6503	52208941	SO:0001583	missense	1591	exon8			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1119T>G	20.37:g.52775534A>C	ENSP00000216862:p.Asn373Lys		52208941	NM_000782	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457285	0.26161	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.77750	0.06;5.15;-1.12	5.43	-7.08	0.01558	.	0.044769	0.85682	D	0.000000	T	0.47967	0.1474	N	0.17082	0.46	0.40148	D	0.976913	B;B;B	0.13594	0.008;0.002;0.003	B;B;B	0.16289	0.015;0.01;0.01	T	0.51601	-0.8685	10	0.02654	T	1	-21.4374	7.8659	0.29537	0.4046:0.0:0.4318:0.1636	.	373;373;231	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	K	373;373;231	ENSP00000216862:N373K;ENSP00000379285:N373K;ENSP00000379284:N231K	ENSP00000216862:N373K	N	-	3	2	CYP24A1	52208941	0.993000	0.37304	0.013000	0.15412	0.487000	0.33371	0.368000	0.20399	-1.972000	0.01001	-0.297000	0.09499	AAT		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2		
GPCPD1	56261	broad.mit.edu	37	20	5539375	5539375	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:5539375C>A	ENST00000379019.4	-	18	1835	c.1623G>T	c.(1621-1623)cgG>cgT	p.R541R	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	541	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.R541R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGGGGGTTGTCCGAGATCTGA	0.348																																					p.R541R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1623T	20						.						69.0	72.0	71.0					20																	5539375		2203	4300	6503	5487375	SO:0001819	synonymous_variant	56261	exon18				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1623G>T	20.37:g.5539375C>A			5487375	NM_019593	D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	9.604	1.129522	0.21041	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	3.28	0.37604	.	.	.	.	.	T	0.45736	0.1357	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35699	-0.9778	4	.	.	.	-15.1843	2.239	0.04015	0.2751:0.4566:0.1145:0.1539	.	.	.	.	Y	133	.	.	D	-	1	0	GPCPD1	5487375	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.703000	0.25646	0.698000	0.31739	0.655000	0.94253	GAC		0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593	
CASS4	57091	broad.mit.edu	37	20	55027937	55027937	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:55027937C>A	ENST00000360314.3	+	6	1930	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.L569I	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	569					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.L569I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGCACGGATGCTTCCAGAAGA	0.488																																					p.L569I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1705A	20						.						88.0	81.0	83.0					20																	55027937		2203	4300	6503	54461344	SO:0001583	missense	57091	exon5			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1705C>A	20.37:g.55027937C>A	ENSP00000353462:p.Leu569Ile		54461344	NM_020356	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246810	0.10130	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.22336	1.96;1.96	6.17	2.74	0.32292	Serine rich protein interaction (1);	0.235357	0.42420	N	0.000710	T	0.06872	0.0175	N	0.04297	-0.235	0.28438	N	0.916922	B;B;B	0.15473	0.013;0.001;0.0	B;B;B	0.17098	0.017;0.001;0.001	T	0.30563	-0.9974	10	0.10636	T	0.68	-11.7544	3.0569	0.06187	0.3977:0.2446:0.3577:0.0	.	515;569;569	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	I	569	ENSP00000353462:L569I;ENSP00000360387:L569I	ENSP00000353462:L569I	L	+	1	0	CASS4	54461344	0.997000	0.39634	0.986000	0.45419	0.829000	0.46940	2.641000	0.46587	0.858000	0.35431	-0.976000	0.02587	CTT		0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
SPO11	23626	broad.mit.edu	37	20	55910508	55910508	+	Missense_Mutation	SNP	C	C	T	rs28368082	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:55910508C>T	ENST00000371263.3	+	7	740	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	SPO11_ENST00000345868.4_Missense_Mutation_p.R173W|SPO11_ENST00000371260.4_Missense_Mutation_p.R173W	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	211			R -> W (in dbSNP:rs28368082).		DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.R211W(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAGGAATTCGGAGTATCCT	0.303								Editing and processing nucleases					C|||	2	0.000399361	0.0	0.0	5008	,	,		19526	0.001		0.0	False		,,,				2504	0.001				p.R211W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631T	20						.						63.0	59.0	60.0					20																	55910508		2202	4300	6502	55343915	SO:0001583	missense	23626	exon7			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.631C>T	20.37:g.55910508C>T	ENSP00000360310:p.Arg211Trp		55343915	NM_012444	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	CCDS13456.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.47	2.247781	0.39697	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.5	-1.73	0.08081	.	0.904071	0.09523	N	0.790690	T	0.45558	0.1348	L	0.34521	1.04	0.39544	D	0.968868	B;B	0.20164	0.042;0.014	B;B	0.08055	0.003;0.001	T	0.34229	-0.9837	10	0.59425	D	0.04	2.9152	5.8689	0.18793	0.5109:0.2761:0.0:0.213	rs28368082;rs28368082	173;211	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	W	211;173;173;189	ENSP00000360310:R211W;ENSP00000316034:R173W;ENSP00000360307:R173W;ENSP00000413185:R189W	ENSP00000316034:R173W	R	+	1	2	SPO11	55343915	0.996000	0.38824	0.193000	0.23327	0.978000	0.69477	1.447000	0.35101	-0.124000	0.11724	-0.463000	0.05309	CGG		0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
RAE1	8480	broad.mit.edu	37	20	55948750	55948750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:55948750C>T	ENST00000395841.2	+	10	1201	c.781C>T	c.(781-783)Cga>Tga	p.R261*	RAE1_ENST00000395840.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000371242.2_Nonsense_Mutation_p.R261*|RAE1_ENST00000527947.1_Nonsense_Mutation_p.R261*	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	261					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.R261*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			TAAATGTCATCGATCTAATGG	0.403																																					p.R261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C781T	20						.						224.0	215.0	218.0					20																	55948750		2203	4300	6503	55382157	SO:0001587	stop_gained	8480	exon10			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.781C>T	20.37:g.55948750C>T	ENSP00000379182:p.Arg261*		55382157	NM_003610	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Nonsense_Mutation	SNP	ENST00000395841.2	37	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	38	7.231739	0.98150	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6719	19.9598	0.97242	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000360286:R261X	R	+	1	2	RAE1	55382157	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.794000	0.62482	2.716000	0.92895	0.655000	0.94253	CGA		0.403	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2		
RBM38	55544	broad.mit.edu	37	20	55982857	55982857	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:55982857C>T	ENST00000356208.5	+	4	850	c.675C>T	c.(673-675)ttC>ttT	p.F225F	RBM38_ENST00000371219.2_Silent_p.F144F	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	225					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F225F(1)		large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCACCACTTTCGTGCAGTACC	0.682																																					p.S225L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C674T	20						.						8.0	11.0	10.0					20																	55982857		2013	4148	6161	55416263	SO:0001819	synonymous_variant	55544	exon4			X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.675C>T	20.37:g.55982857C>T			55416263	NM_017495	A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Silent	SNP	ENST00000356208.5	37	CCDS46617.1																																																																																				0.682	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425	
PCK1	5105	broad.mit.edu	37	20	56138152	56138152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:56138152G>T	ENST00000319441.4	+	5	843	c.679G>T	c.(679-681)Gag>Tag	p.E227*	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Nonsense_Mutation_p.E95*	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	227					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.E227*(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGACCGCAGAGAGATCATCTC	0.617																																					p.E227X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G679T	20						.						75.0	78.0	77.0					20																	56138152		2203	4300	6503	55571558	SO:0001587	stop_gained	5105	exon5				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.679G>T	20.37:g.56138152G>T	ENSP00000319814:p.Glu227*		55571558	NM_002591	A8K437|B4DT64|Q8TCA3|Q9UJD2	Nonsense_Mutation	SNP	ENST00000319441.4	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	37	6.270652	0.97431	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	.	.	.	5.06	5.06	0.68205	.	0.108146	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-36.278	18.8029	0.92025	0.0:0.0:1.0:0.0	.	.	.	.	X	227;95	.	ENSP00000319814:E227X	E	+	1	0	PCK1	55571558	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.693000	0.54735	2.520000	0.84964	0.655000	0.94253	GAG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
ZNF831	128611	broad.mit.edu	37	20	57766269	57766269	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:57766269G>A	ENST00000371030.2	+	1	195	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	65	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T65T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTACCACACGGTGCCTCCCG	0.692																																					p.T65T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	20						.						11.0	13.0	12.0					20																	57766269		1871	4074	5945	57199664	SO:0001819	synonymous_variant	128611	exon1			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.195G>A	20.37:g.57766269G>A			57199664	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																				0.692	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	broad.mit.edu	37	20	57767958	57767958	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:57767958C>A	ENST00000371030.2	+	1	1884	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	628							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F628L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGAGACGTTCAAAAGGATCT	0.587																																					p.F628L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1884A	20						.						60.0	69.0	66.0					20																	57767958		2048	4188	6236	57201353	SO:0001583	missense	128611	exon1			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1884C>A	20.37:g.57767958C>A	ENSP00000360069:p.Phe628Leu		57201353	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174363	0.57692	.	.	ENSG00000124203	ENST00000371030	T	0.09445	2.98	5.21	0.539	0.17156	.	0.000000	0.56097	D	0.000028	T	0.21347	0.0514	L	0.54323	1.7	0.35309	D	0.783748	D	0.89917	1.0	D	0.83275	0.996	T	0.10660	-1.0620	10	0.40728	T	0.16	-25.8782	7.4794	0.27395	0.0:0.4815:0.0:0.5185	.	628	Q5JPB2	ZN831_HUMAN	L	628	ENSP00000360069:F628L	ENSP00000360069:F628L	F	+	3	2	ZNF831	57201353	1.000000	0.71417	0.034000	0.17996	0.543000	0.35085	0.780000	0.26760	0.212000	0.20703	0.655000	0.94253	TTC		0.587	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ZNF831	128611	broad.mit.edu	37	20	57829673	57829673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:57829673G>T	ENST00000371030.2	+	5	4909	c.4909G>T	c.(4909-4911)Gaa>Taa	p.E1637*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1637							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E1637*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGCCCATAGAAATTCCTGA	0.488																																					p.E1637X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4909T	20						.						64.0	62.0	63.0					20																	57829673		1844	4103	5947	57263068	SO:0001587	stop_gained	128611	exon5			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4909G>T	20.37:g.57829673G>T	ENSP00000360069:p.Glu1637*		57263068	NM_178457	Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	41	8.737360	0.98935	.	.	ENSG00000124203	ENST00000371030	.	.	.	5.66	3.67	0.42095	.	0.581837	0.15403	N	0.264198	.	.	.	.	.	.	0.51482	D	0.999925	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.5073	8.548	0.33433	0.0839:0.152:0.7641:0.0	.	.	.	.	X	1637	.	ENSP00000360069:E1637X	E	+	1	0	ZNF831	57263068	0.011000	0.17503	0.004000	0.12327	0.426000	0.31534	1.884000	0.39668	1.373000	0.46208	0.650000	0.86243	GAA		0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
EDN3	1908	broad.mit.edu	37	20	57876616	57876616	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:57876616G>A	ENST00000337938.2	+	2	590	c.204G>A	c.(202-204)ccG>ccA	p.P68P	EDN3_ENST00000371025.3_Silent_p.P68P|EDN3_ENST00000311585.7_Silent_p.P68P|EDN3_ENST00000371028.2_Silent_p.P68P|EDN3_ENST00000395654.3_Silent_p.P68P	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	68					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P68P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGTGGCCCCGACAGCACTGC	0.697																																					p.P68P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	20						.						37.0	41.0	39.0					20																	57876616		2202	4299	6501	57310011	SO:0001819	synonymous_variant	1908	exon2			X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.204G>A	20.37:g.57876616G>A			57310011	NM_207033	E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	CCDS13477.1																																																																																				0.697	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114	
PHACTR3	116154	broad.mit.edu	37	20	58381133	58381133	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58381133C>T	ENST00000371015.1	+	8	1679	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A	PHACTR3_ENST00000541461.1_Silent_p.A363A|PHACTR3_ENST00000361300.4_Silent_p.A293A|PHACTR3_ENST00000395636.2_Silent_p.A363A|PHACTR3_ENST00000355648.4_Silent_p.A363A|PHACTR3_ENST00000359926.3_Silent_p.A401A|PHACTR3_ENST00000395639.4_Silent_p.A293A	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	404						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A404A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGCTCCTGGCCGTGAAGCTAA	0.537																																					p.A404A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	20						.						167.0	179.0	175.0					20																	58381133		2203	4300	6503	57814528	SO:0001819	synonymous_variant	116154	exon8			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1212C>T	20.37:g.58381133C>T			57814528	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.537	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
PHACTR3	116154	broad.mit.edu	37	20	58416501	58416501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58416501C>T	ENST00000371015.1	+	11	1965	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.R459*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.R389*|PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.R459*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.R459*|PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.R497*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.R389*	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	500	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R500*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AATTCTGATACGATTCAGTGA	0.408																																					p.R500X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1498T	20						.						92.0	86.0	88.0					20																	58416501		2203	4300	6503	57849896	SO:0001587	stop_gained	116154	exon11			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1498C>T	20.37:g.58416501C>T	ENSP00000360054:p.Arg500*		57849896	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Nonsense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	40	8.353681	0.98774	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3716	18.0796	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	497;500;389;459;459;459;389	.	ENSP00000347866:R459X	R	+	1	2	PHACTR3	57849896	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	7.713000	0.84693	2.584000	0.87258	0.655000	0.94253	CGA		0.408	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
PHACTR3	116154	broad.mit.edu	37	20	58420259	58420259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58420259G>T	ENST00000371015.1	+	12	2070	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.E494*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.E424*|PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.E494*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.E494*|PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.E532*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.E424*	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	535						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.E535*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AATTCGTAAAGAATTAAATGA	0.299																																					p.E535X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1603T	20						.						66.0	69.0	68.0					20																	58420259		2203	4299	6502	57853654	SO:0001587	stop_gained	116154	exon12			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1603G>T	20.37:g.58420259G>T	ENSP00000360054:p.Glu535*		57853654	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Nonsense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693958	0.98438	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	5.07	4.12	0.48240	.	0.155907	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0201	12.963	0.58468	0.0787:0.0:0.9213:0.0	.	.	.	.	X	532;535;424;494;494;494;424	.	ENSP00000347866:E494X	E	+	1	0	PHACTR3	57853654	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.727000	0.98787	1.276000	0.44395	0.306000	0.20318	GAA		0.299	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
SYCP2	10388	broad.mit.edu	37	20	58442857	58442857	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58442857G>T	ENST00000357552.3	-	39	4259	c.4034C>A	c.(4033-4035)cCt>cAt	p.P1345H	SYCP2_ENST00000371001.2_Missense_Mutation_p.P1345H			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1345					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.P1345H(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGTCTCCCAAGGAATAGAAAA	0.328																																					p.P1345H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4034A	20						.						55.0	57.0	56.0					20																	58442857		2202	4294	6496	57876252	SO:0001583	missense	10388	exon38			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4034C>A	20.37:g.58442857G>T	ENSP00000350162:p.Pro1345His		57876252	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	5.233	0.228494	0.09916	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.16743	2.32;2.32	5.25	3.07	0.35406	.	0.402704	0.21198	N	0.078501	T	0.11879	0.0289	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.30621	-0.9972	10	0.24483	T	0.36	-1.1574	6.4249	0.21764	0.0846:0.0:0.5101:0.4053	.	1345	Q9BX26	SYCP2_HUMAN	H	1345;1345;31	ENSP00000360040:P1345H;ENSP00000350162:P1345H	ENSP00000350162:P1345H	P	-	2	0	SYCP2	57876252	0.930000	0.31532	0.022000	0.16811	0.381000	0.30169	0.480000	0.22244	0.397000	0.25310	-0.293000	0.09583	CCT		0.328	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
C20orf196	149840	broad.mit.edu	37	20	5844088	5844088	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:5844088G>A	ENST00000303142.6	+	3	684	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	199								p.Q199Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCTTGCAGCAGAATGTAATGA	0.502																																					p.Q199Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G597A	20						.						85.0	82.0	83.0					20																	5844088		2202	4299	6501	5792088	SO:0001819	synonymous_variant	149840	exon3			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.597G>A	20.37:g.5844088G>A			5792088	NM_152504	A8K9J3|Q5TGA9|Q96LU1	Silent	SNP	ENST00000303142.6	37	CCDS13091.1																																																																																				0.502	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504	
SYCP2	10388	broad.mit.edu	37	20	58476736	58476736	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58476736A>C	ENST00000357552.3	-	16	1388	c.1163T>G	c.(1162-1164)tTt>tGt	p.F388C	SYCP2_ENST00000371001.2_Missense_Mutation_p.F388C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	388					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.F388C(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGTTGCACCAAAAATTTTTTG	0.269																																					p.F388C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1163G	20						.						55.0	55.0	55.0					20																	58476736		2198	4286	6484	57910131	SO:0001583	missense	10388	exon15			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1163T>G	20.37:g.58476736A>C	ENSP00000350162:p.Phe388Cys		57910131	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112856	0.56398	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.24151	2.12;2.12;1.87	5.59	4.46	0.54185	.	0.090637	0.48767	D	0.000166	T	0.41789	0.1174	L	0.59436	1.845	0.30890	N	0.730422	D;D	0.89917	1.0;1.0	D;D	0.70935	0.964;0.971	T	0.46830	-0.9163	10	0.87932	D	0	-8.5737	7.6619	0.28409	0.7181:0.0:0.0:0.2819	.	388;388	A2A341;Q9BX26	.;SYCP2_HUMAN	C	388	ENSP00000360040:F388C;ENSP00000350162:F388C;ENSP00000402456:F388C	ENSP00000350162:F388C	F	-	2	0	SYCP2	57910131	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.828000	0.55753	2.111000	0.64477	0.528000	0.53228	TTT		0.269	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
FAM217B	63939	broad.mit.edu	37	20	58519764	58519764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58519764G>T	ENST00000358293.3	+	5	1181	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Nonsense_Mutation_p.E256*	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	256								p.E256*(1)									TCACCATGAAGAAATCCACCC	0.473																																					p.E256X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G766T	20						.						92.0	96.0	95.0					20																	58519764		2203	4300	6503	57953159	SO:0001587	stop_gained	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.766G>T	20.37:g.58519764G>T	ENSP00000351040:p.Glu256*		57953159	NM_001190826	B3KWH1|Q9NTA3	Nonsense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484582	0.84854	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	.	.	.	5.8	3.83	0.44106	.	0.251761	0.27861	N	0.017560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-16.477	11.5436	0.50679	0.0644:0.3514:0.5842:0.0	.	.	.	.	X	256	.	ENSP00000351040:E256X	E	+	1	0	C20orf177	57953159	0.944000	0.32072	0.015000	0.15790	0.011000	0.07611	2.490000	0.45294	0.765000	0.33221	-0.165000	0.13383	GAA		0.473	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
FAM217B	63939	broad.mit.edu	37	20	58519883	58519883	+	Missense_Mutation	SNP	G	G	T	rs141403856	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58519883G>T	ENST00000358293.3	+	5	1300	c.885G>T	c.(883-885)aaG>aaT	p.K295N	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.K295N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	295	Poly-Lys.							p.K295N(1)									AAAAGAAAAAGAAATCAAGTA	0.483																																					p.K295N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G885T	20						.						45.0	47.0	47.0					20																	58519883		2203	4300	6503	57953278	SO:0001583	missense	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.885G>T	20.37:g.58519883G>T	ENSP00000351040:p.Lys295Asn		57953278	NM_001190826	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612923	0.46631	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.25749	1.78;1.78	5.3	3.27	0.37495	.	0.291697	0.28365	N	0.015607	T	0.33265	0.0857	L	0.36672	1.1	0.26017	N	0.981911	D	0.57257	0.979	P	0.59487	0.858	T	0.07558	-1.0766	10	0.48119	T	0.1	-11.9661	10.332	0.43829	0.2314:0.0:0.7686:0.0	.	295	Q9NTX9	CT177_HUMAN	N	295	ENSP00000351040:K295N;ENSP00000354056:K295N	ENSP00000351040:K295N	K	+	3	2	C20orf177	57953278	0.952000	0.32445	0.058000	0.19502	0.460000	0.32559	1.397000	0.34543	0.540000	0.28808	-0.345000	0.07892	AAG		0.483	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
MCM8	84515	broad.mit.edu	37	20	5966767	5966767	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:5966767G>A	ENST00000378896.3	+	16	2530	c.2153G>A	c.(2152-2154)cGt>cAt	p.R718H	MCM8_ENST00000378886.2_Missense_Mutation_p.R758H|MCM8_ENST00000378883.1_Missense_Mutation_p.R671H|MCM8_ENST00000265187.4_Missense_Mutation_p.R702H	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	718					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R702H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TCTTTGATTCGTCTGACAGAG	0.418																																					p.R718H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2153A	20						.						103.0	98.0	100.0					20																	5966767		2203	4300	6503	5914767	SO:0001583	missense	84515	exon16			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2153G>A	20.37:g.5966767G>A	ENSP00000368174:p.Arg718His		5914767	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696208	0.88830	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.65	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	H	0.97186	3.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.996;1.0	T	0.73668	-0.3910	10	0.87932	D	0	-13.2564	14.947	0.71039	0.0687:0.0:0.9313:0.0	.	671;758;702;718	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	H	718;671;758;702	ENSP00000368174:R718H;ENSP00000368161:R671H;ENSP00000368164:R758H;ENSP00000265187:R702H	ENSP00000265187:R702H	R	+	2	0	MCM8	5914767	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.648000	0.98483	1.531000	0.49152	-0.140000	0.14226	CGT		0.418	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485	
FAM217B	63939	broad.mit.edu	37	20	58520099	58520099	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:58520099G>T	ENST00000358293.3	+	5	1516	c.1101G>T	c.(1099-1101)gaG>gaT	p.E367D	FAM217B_ENST00000360816.3_Missense_Mutation_p.E367D	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	367								p.E367D(1)									TATCGAGTGAGAAAAAACTGA	0.403																																					p.E367D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1101T	20						.						47.0	48.0	48.0					20																	58520099		2203	4300	6503	57953494	SO:0001583	missense	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1101G>T	20.37:g.58520099G>T	ENSP00000351040:p.Glu367Asp		57953494	NM_001190826	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973136	0.53614	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.33654	1.4;1.4	5.35	5.35	0.76521	.	0.130623	0.34580	N	0.003851	T	0.24928	0.0605	L	0.34521	1.04	0.28750	N	0.901508	P	0.35507	0.506	B	0.31812	0.136	T	0.16808	-1.0390	10	0.33940	T	0.23	-41.9123	9.6756	0.40039	0.0:0.1934:0.6735:0.1331	.	367	Q9NTX9	CT177_HUMAN	D	367	ENSP00000351040:E367D;ENSP00000354056:E367D	ENSP00000351040:E367D	E	+	3	2	C20orf177	57953494	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	1.517000	0.35867	2.497000	0.84241	0.591000	0.81541	GAG		0.403	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
CDH4	1002	broad.mit.edu	37	20	60503345	60503345	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:60503345C>T	ENST00000360469.5	+	12	1957	c.1869C>T	c.(1867-1869)tgC>tgT	p.C623C	CDH4_ENST00000543233.1_Silent_p.C549C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	623	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGCAGATCTGCGAGAAGCCCA	0.642																																					p.C623C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	20						.						116.0	119.0	118.0					20																	60503345		2203	4300	6503	59936740	SO:0001819	synonymous_variant	1002	exon12			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1869C>T	20.37:g.60503345C>T			59936740	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	CCDS13488.1																																																																																				0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
CDH4	1002	broad.mit.edu	37	20	60504733	60504733	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:60504733T>G	ENST00000360469.5	+	13	2160	c.2072T>G	c.(2071-2073)aTc>aGc	p.I691S	CDH4_ENST00000543233.1_Missense_Mutation_p.I617S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	691	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I691S(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTCCCCATCATCGTCACAGAC	0.542																																					p.I691S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2072G	20						.						175.0	127.0	144.0					20																	60504733		2203	4300	6503	59938128	SO:0001583	missense	1002	exon13			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2072T>G	20.37:g.60504733T>G	ENSP00000353656:p.Ile691Ser		59938128	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	T	4.737	0.137012	0.09032	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60797	0.16;0.16	4.08	1.76	0.24704	Cadherin (3);Cadherin-like (1);	0.327701	0.30185	N	0.010217	T	0.41236	0.1150	L	0.52364	1.645	0.42982	D	0.994469	B	0.31318	0.319	B	0.24541	0.054	T	0.12192	-1.0557	9	.	.	.	.	3.8372	0.08899	0.1554:0.1748:0.0:0.6698	.	691	P55283	CADH4_HUMAN	S	691;599;617	ENSP00000353656:I691S;ENSP00000443301:I617S	.	I	+	2	0	CDH4	59938128	0.000000	0.05858	0.715000	0.30552	0.864000	0.49448	-0.019000	0.12546	0.044000	0.15775	0.459000	0.35465	ATC		0.542	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
CDH4	1002	broad.mit.edu	37	20	60504841	60504841	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:60504841C>T	ENST00000360469.5	+	13	2268	c.2180C>T	c.(2179-2181)gCg>gTg	p.A727V	CDH4_ENST00000543233.1_Missense_Mutation_p.A653V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	727					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A727V(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGTGGCAGCGGCTGGTCTG	0.607																																					p.A727V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2180T	20						.						122.0	93.0	103.0					20																	60504841		2203	4300	6503	59938236	SO:0001583	missense	1002	exon13			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2180C>T	20.37:g.60504841C>T	ENSP00000353656:p.Ala727Val		59938236	NM_001794	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	8.403	0.842411	0.16963	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.57907	0.37;0.39	4.14	4.14	0.48551	.	0.184484	0.47093	D	0.000247	T	0.34454	0.0898	L	0.34521	1.04	0.50813	D	0.999899	P	0.39116	0.66	B	0.26202	0.067	T	0.20174	-1.0283	9	.	.	.	.	12.3418	0.55099	0.0:0.8295:0.1705:0.0	.	727	P55283	CADH4_HUMAN	V	727;635;653	ENSP00000353656:A727V;ENSP00000443301:A653V	.	A	+	2	0	CDH4	59938236	1.000000	0.71417	0.110000	0.21437	0.182000	0.23217	4.633000	0.61318	1.855000	0.53841	0.561000	0.74099	GCG		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
PSMA7	5688	broad.mit.edu	37	20	60713265	60713265	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:60713265C>A	ENST00000370873.4	-	5	679	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	PSMA7_ENST00000370861.1_Missense_Mutation_p.D115Y|PSMA7_ENST00000484488.1_5'UTR	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	185					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)	p.D185Y(2)		large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATGGTCAGATCATCTGTTTCA	0.483																																					p.D185Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G553T	20						.						214.0	138.0	164.0					20																	60713265		2203	4300	6503	60146660	SO:0001583	missense	5688	exon5			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.553G>T	20.37:g.60713265C>A	ENSP00000359910:p.Asp185Tyr		60146660	NM_002792	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	ENST00000370873.4	37	CCDS13489.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.84|16.84	3.232981|3.232981	0.58777|0.58777	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000370873;ENST00000370861|ENST00000442551	T;T|.	0.26067|.	1.76;1.76|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.088174|.	0.85682|.	D|.	0.000000|.	D|D	0.84942|0.84942	0.5584|0.5584	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	P|.	0.42248|.	0.774|.	P|.	0.48873|.	0.593|.	D|D	0.87826|0.87826	0.2641|0.2641	10|5	0.62326|.	D|.	0.03|.	.|.	18.563|18.563	0.91107|0.91107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	185|.	O14818|.	PSA7_HUMAN|.	Y|I	185;115|110	ENSP00000359910:D185Y;ENSP00000359898:D115Y|.	ENSP00000359898:D115Y|.	D|M	-|-	1|3	0|0	PSMA7|PSMA7	60146660|60146660	1.000000|1.000000	0.71417|0.71417	0.053000|0.053000	0.19242|0.19242	0.693000|0.693000	0.40251|0.40251	4.646000|4.646000	0.61411|0.61411	2.401000|2.401000	0.81631|0.81631	0.563000|0.563000	0.77884|0.77884	GAT|ATG		0.483	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792	
OSBPL2	9885	broad.mit.edu	37	20	60864312	60864312	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:60864312G>A	ENST00000313733.3	+	12	1377	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	OSBPL2_ENST00000358053.2_Missense_Mutation_p.G380D|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	392					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.G392D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CTGGAGACAGGCATGGAGAAG	0.587																																					p.G380D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1139A	20						.						84.0	64.0	71.0					20																	60864312		2203	4300	6503	60297707	SO:0001583	missense	9885	exon12			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.1175G>A	20.37:g.60864312G>A	ENSP00000316649:p.Gly392Asp		60297707	NM_014835	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	G	7.512	0.654919	0.14580	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.28454	1.61;1.61	4.22	3.27	0.37495	.	0.052181	0.85682	D	0.000000	T	0.17746	0.0426	N	0.21583	0.68	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.23150	0.036;0.044	T	0.05716	-1.0868	10	0.12103	T	0.63	-8.2166	8.5256	0.33302	0.1817:0.0:0.8183:0.0	.	380;392	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	D	380;392	ENSP00000350755:G380D;ENSP00000316649:G392D	ENSP00000316649:G392D	G	+	2	0	OSBPL2	60297707	1.000000	0.71417	0.874000	0.34290	0.987000	0.75469	3.435000	0.52849	0.900000	0.36469	0.561000	0.74099	GGC		0.587	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
TCFL5	10732	broad.mit.edu	37	20	61473391	61473391	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:61473391T>C	ENST00000335351.3	-	6	1531	c.1439A>G	c.(1438-1440)gAc>gGc	p.D480G		NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D480G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CACCAAGGAGTCCGGTCTGGT	0.517																																					p.D480G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1439G	20						.						109.0	92.0	97.0					20																	61473391		2203	4300	6503	60943836	SO:0001583	missense	10732	exon6			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1439A>G	20.37:g.61473391T>C	ENSP00000334294:p.Asp480Gly		60943836	NM_006602	O94771|Q9BYW0	Missense_Mutation	SNP	ENST00000335351.3	37	CCDS13506.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311815	0.81358	.	.	ENSG00000101190	ENST00000335351	T	0.39406	1.08	5.93	5.93	0.95920	.	0.103063	0.42053	D	0.000774	T	0.33323	0.0859	N	0.24115	0.695	0.80722	D	1	P	0.45348	0.856	B	0.42625	0.393	T	0.07868	-1.0750	10	0.34782	T	0.22	-20.2662	14.9446	0.71020	0.0:0.0:0.0:1.0	.	480	Q9UL49	TCFL5_HUMAN	G	480	ENSP00000334294:D480G	ENSP00000334294:D480G	D	-	2	0	TCFL5	60943836	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	4.942000	0.63547	2.273000	0.75805	0.482000	0.46254	GAC		0.517	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602	
DIDO1	11083	broad.mit.edu	37	20	61524262	61524262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:61524262G>A	ENST00000266070.4	-	13	3479	c.3154C>T	c.(3154-3156)Cga>Tga	p.R1052*	DIDO1_ENST00000395335.2_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.R1052*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.R1052*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1052					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1052*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGCTGAGTCGAGACAAAAAG	0.423																																					p.R1052X	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3154T	20						.						117.0	105.0	109.0					20																	61524262		2203	4300	6503	60994707	SO:0001587	stop_gained	11083	exon13			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3154C>T	20.37:g.61524262G>A	ENSP00000266070:p.Arg1052*		60994707	NM_001193370	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	45	11.559260	0.99576	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.88	4.94	0.65067	.	0.000000	0.36519	U	0.002550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5963	15.002	0.71479	0.0681:0.0:0.9319:0.0	.	.	.	.	X	1052	.	ENSP00000266070:R1052X	R	-	1	2	DIDO1	60994707	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.587000	0.53957	1.504000	0.48704	-0.229000	0.12294	CGA		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
SLC17A9	63910	broad.mit.edu	37	20	61596508	61596508	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:61596508A>C	ENST00000370351.4	+	9	1066	c.935A>C	c.(934-936)aAg>aCg	p.K312T	SLC17A9_ENST00000370349.3_Missense_Mutation_p.K306T|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	312					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.K312T(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACGGTGCGGAAGCTCATGCAG	0.582																																					p.K312T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A935C	20						.						89.0	94.0	92.0					20																	61596508		1958	4143	6101	61066953	SO:0001583	missense	63910	exon9			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.935A>C	20.37:g.61596508A>C	ENSP00000359376:p.Lys312Thr		61066953	NM_022082	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317806	0.81469	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.57107	0.42;0.42	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78188	0.4244	M	0.92459	3.31	0.80722	D	1	D;D;D	0.69078	0.997;0.99;0.987	D;D;D	0.77004	0.982;0.989;0.968	D	0.84062	0.0375	10	0.87932	D	0	.	14.1381	0.65300	1.0:0.0:0.0:0.0	.	332;312;306	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	312;306	ENSP00000359376:K312T;ENSP00000359374:K306T	ENSP00000359374:K306T	K	+	2	0	SLC17A9	61066953	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.666000	0.74446	1.927000	0.55829	0.459000	0.35465	AAG		0.582	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
YTHDF1	54915	broad.mit.edu	37	20	61834779	61834779	+	Silent	SNP	G	G	A	rs147844381	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:61834779G>A	ENST00000370339.3	-	4	854	c.513C>T	c.(511-513)agC>agT	p.S171S	YTHDF1_ENST00000370333.4_Silent_p.S121S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	171							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.S171S(1)|p.A70V(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGAGGGTGTCGCTGTGAAAGC	0.647													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16897	0.0		0.001	False		,,,				2504	0.0				p.S171S												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C513T	20						.	G		3,4401		0,3,2199	40.0	37.0	38.0		513	-7.9	0.1	20	dbSNP_134	38	10,8590		0,10,4290	no	coding-synonymous	YTHDF1	NM_017798.3		0,13,6489	AA,AG,GG		0.1163,0.0681,0.1		171/560	61834779	13,12991	2202	4300	6502	61305224	SO:0001819	synonymous_variant	54915	exon4			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.513C>T	20.37:g.61834779G>A			61305224	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	7.724	0.697853	0.15106	6.81E-4	0.001163	ENSG00000149658	ENST00000342761	.	.	.	5.15	-7.94	0.01152	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63659	-0.6587	5	0.25106	T	0.35	-8.8652	15.2669	0.73669	0.4313:0.0:0.5687:0.0	.	.	.	.	V	70	.	ENSP00000339489:A70V	A	-	2	0	YTHDF1	61305224	0.974000	0.33945	0.125000	0.21846	0.919000	0.55068	0.341000	0.19909	-1.754000	0.01321	-0.658000	0.03865	GCG		0.647	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
YTHDF1	54915	broad.mit.edu	37	20	61834908	61834908	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:61834908C>T	ENST00000370339.3	-	4	725	c.384G>A	c.(382-384)gcG>gcA	p.A128A	YTHDF1_ENST00000370333.4_Silent_p.A78A|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	128							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.A128A(1)|p.R27H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						ATGCTGAGAACGCAGGGTTTT	0.567																																					p.A128A												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G384A	20						.						57.0	53.0	54.0					20																	61834908		2203	4300	6503	61305353	SO:0001819	synonymous_variant	54915	exon4			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.384G>A	20.37:g.61834908C>T			61305353	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	8.104	0.777287	0.16120	.	.	ENSG00000149658	ENST00000342761	.	.	.	5.15	-7.07	0.01563	.	.	.	.	.	T	0.49677	0.1571	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60717	-0.7208	5	0.87932	D	0	-15.007	1.515	0.02504	0.1898:0.1569:0.3619:0.2914	.	.	.	.	H	27	.	ENSP00000339489:R27H	R	-	2	0	YTHDF1	61305353	0.416000	0.25424	0.943000	0.38184	0.912000	0.54170	-0.223000	0.09177	-0.789000	0.04498	-1.310000	0.01310	CGT		0.567	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
ZGPAT	84619	broad.mit.edu	37	20	62340508	62340508	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62340508G>A	ENST00000328969.5	+	2	703	c.576G>A	c.(574-576)gaG>gaA	p.E192E	RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.R98K|ZGPAT_ENST00000355969.6_Silent_p.E192E|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.E192E|ZGPAT_ENST00000448100.2_Silent_p.E192E|ZGPAT_ENST00000357119.4_Silent_p.E192E|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ARFRP1_ENST00000324228.2_5'Flank	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	192					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E192E(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCTTTAAGGAGAACTGCAGGT	0.582																																					p.E192E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	20						.						69.0	70.0	70.0					20																	62340508		2203	4300	6503	61810952	SO:0001819	synonymous_variant	84619	exon2			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.576G>A	20.37:g.62340508G>A			61810952	NM_181485	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	CCDS13534.1																																																																																				0.582	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
ZBTB46	140685	broad.mit.edu	37	20	62422078	62422078	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62422078C>T	ENST00000245663.4	-	2	183	c.33G>A	c.(31-33)acG>acA	p.T11T	ZBTB46_ENST00000302995.2_Silent_p.T11T|ZBTB46_ENST00000395104.1_Silent_p.T11T|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	11			T -> A (in dbSNP:rs2281929). {ECO:0000269|PubMed:15489334}.		negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T11T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GGTAGTGGGACGTGATTTCCA	0.572																																					p.T11T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G33A	20						.						44.0	31.0	35.0					20																	62422078		2203	4299	6502	61892522	SO:0001819	synonymous_variant	140685	exon2			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.33G>A	20.37:g.62422078C>T			61892522	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	CCDS13538.1																																																																																				0.572	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
ZBTB46	140685	broad.mit.edu	37	20	62422100	62422100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62422100C>T	ENST00000245663.4	-	2	161	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	ZBTB46_ENST00000302995.2_Missense_Mutation_p.R4Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.R4Q|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	4					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R4Q(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ATCTTCCTTTCGGTTGTTCAT	0.572																																					p.R4Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11A	20						.						33.0	22.0	25.0					20																	62422100		2202	4294	6496	61892544	SO:0001583	missense	140685	exon2			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.11G>A	20.37:g.62422100C>T	ENSP00000245663:p.Arg4Gln		61892544	NM_025224	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250940	0.59212	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.13901	2.55;2.55;2.55	5.16	4.19	0.49359	BTB/POZ fold (1);	0.075973	0.52532	D	0.000076	T	0.10337	0.0253	L	0.39898	1.24	0.46458	D	0.999053	B	0.30193	0.272	B	0.15484	0.013	T	0.14783	-1.0460	10	0.21540	T	0.41	.	11.8377	0.52336	0.0:0.9112:0.0:0.0888	.	4	Q86UZ6	ZBT46_HUMAN	Q	4	ENSP00000245663:R4Q;ENSP00000303102:R4Q;ENSP00000378536:R4Q	ENSP00000245663:R4Q	R	-	2	0	ZBTB46	61892544	1.000000	0.71417	0.903000	0.35520	0.774000	0.43823	4.888000	0.63164	1.121000	0.41925	0.491000	0.48974	CGA		0.572	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224	
ZNF512B	57473	broad.mit.edu	37	20	62631085	62631085	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62631085C>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Silent_p.I332I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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.I332I(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAACCTTATCATGAAGGGGA	0.562																																					p.I332I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996A	20						.						67.0	57.0	60.0					20																	62631085		2203	4300	6503	62101529	SO:0001627	intron_variant	24148	exon8			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31777G>T	20.37:g.62631085C>A			62101529	NM_012469	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
TCEA2	6919	broad.mit.edu	37	20	62703269	62703269	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62703269G>A	ENST00000343484.5	+	9	1035	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	TCEA2_ENST00000395053.3_3'UTR|RGS19_ENST00000493165.1_5'Flank|TCEA2_ENST00000361317.2_Missense_Mutation_p.C262Y|TCEA2_ENST00000465111.1_3'UTR	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	289					DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C289Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TTTGTTGTCTGCAACGAGTGT	0.622																																					p.C262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785A	20						.						84.0	71.0	76.0					20																	62703269		2203	4300	6503	62173713	SO:0001583	missense	6919	exon10			U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.866G>A	20.37:g.62703269G>A	ENSP00000343515:p.Cys289Tyr		62173713	NM_198723	B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233006	0.79688	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000458442	.	.	.	3.99	3.99	0.46301	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95088	0.8219	9	0.87932	D	0	-0.1823	16.4271	0.83817	0.0:0.0:1.0:0.0	.	289;289;262	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	Y	262;289;262	.	ENSP00000343515:C289Y	C	+	2	0	TCEA2	62173713	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.550000	0.98110	1.953000	0.56701	0.313000	0.20887	TGC		0.622	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723	
MYT1	4661	broad.mit.edu	37	20	62839449	62839449	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62839449G>T	ENST00000328439.1	+	7	1264	c.900G>T	c.(898-900)gaG>gaT	p.E300D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E300D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E300D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aagaggaagaggaagaggagg	0.572																																					p.E300D	GBM(59;481 1041 20555 21139 33705)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G900T	20						.						57.0	57.0	57.0					20																	62839449		2203	4300	6503	62309893	SO:0001583	missense	4661	exon7			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.900G>T	20.37:g.62839449G>T	ENSP00000327465:p.Glu300Asp		62309893	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	0.588	-0.834161	0.02713	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.73047	-0.71;-0.71	3.61	-4.9	0.03094	.	2.701810	0.01172	N	0.006892	T	0.57140	0.2033	L	0.38531	1.155	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.28776	-1.0033	10	0.17369	T	0.5	-1.6302	7.9983	0.30282	0.6473:0.0:0.2362:0.1165	.	300	Q01538	MYT1_HUMAN	D	300	ENSP00000327465:E300D;ENSP00000442412:E300D	ENSP00000327465:E300D	E	+	3	2	MYT1	62309893	0.001000	0.12720	0.007000	0.13788	0.057000	0.15508	-2.123000	0.01319	-1.069000	0.03153	0.282000	0.19409	GAG		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
ANGPT4	51378	broad.mit.edu	37	20	853726	853726	+	Silent	SNP	G	G	A	rs375636235		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:853726G>A	ENST00000381922.3	-	9	1491	c.1389C>T	c.(1387-1389)aaC>aaT	p.N463N	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	463	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.N463N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGTAGACGCCGTTGAGGTTTG	0.612																																					p.N463N	Pancreas(181;481 2077 3259 31286 49856)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	20						.	G		1,4405	2.1+/-5.4	0,1,2202	84.0	76.0	79.0		1389	-8.8	0.3	20		79	0,8600		0,0,4300	no	coding-synonymous	ANGPT4	NM_015985.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		463/504	853726	1,13005	2203	4300	6503	801726	SO:0001819	synonymous_variant	51378	exon9			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1389C>T	20.37:g.853726G>A			801726	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																				0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
ANGPT4	51378	broad.mit.edu	37	20	870988	870988	+	Silent	SNP	G	G	T	rs370865591		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:870988G>T	ENST00000381922.3	-	2	435	c.333C>A	c.(331-333)atC>atA	p.I111I	ANGPT4_ENST00000546022.1_Silent_p.I111I	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	111					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.I111I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCGACCTCAAGATCGTCTTGA	0.647																																					p.I111I	Pancreas(181;481 2077 3259 31286 49856)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333A	20						.			0,4406		0,0,2203	74.0	65.0	68.0		333	3.5	0.3	20		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANGPT4	NM_015985.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		111/504	870988	1,13005	2203	4300	6503	818988	SO:0001819	synonymous_variant	51378	exon2			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.333C>A	20.37:g.870988G>T			818988	NM_015985	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																				0.647	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
BMP2	650	broad.mit.edu	37	20	6759694	6759694	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:6759694G>T	ENST00000378827.4	+	3	2368	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	383					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)	p.K383N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						TTGTATTAAAGAACTATCAGG	0.353																																					p.K383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1149T	20						.						72.0	69.0	70.0					20																	6759694		2203	4300	6503	6707694	SO:0001583	missense	650	exon3				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.1149G>T	20.37:g.6759694G>T	ENSP00000368104:p.Lys383Asn		6707694	NM_001200		Missense_Mutation	SNP	ENST00000378827.4	37	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929420	0.52759	.	.	ENSG00000125845	ENST00000378827	D	0.84730	-1.89	5.76	4.81	0.61882	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94637	0.7827	10	0.87932	D	0	.	10.4547	0.44544	0.15:0.0:0.85:0.0	.	383	P12643	BMP2_HUMAN	N	383	ENSP00000368104:K383N	ENSP00000368104:K383N	K	+	3	2	BMP2	6707694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.578000	0.60929	1.546000	0.49388	0.650000	0.86243	AAG		0.353	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3		
HAO1	54363	broad.mit.edu	37	20	7866189	7866189	+	Silent	SNP	G	G	T	rs573481520		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:7866189G>T	ENST00000378789.3	-	7	1072	c.1021C>A	c.(1021-1023)Cgg>Agg	p.R341R		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	341	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R341R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGGCCAACCGGAATTCTTCC	0.398																																					p.R341R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1021A	20						.						121.0	106.0	111.0					20																	7866189		2203	4300	6503	7814189	SO:0001819	synonymous_variant	54363	exon7			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1021C>A	20.37:g.7866189G>T			7814189	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	ENST00000378789.3	37	CCDS13100.1																																																																																				0.398	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
PLCB1	23236	broad.mit.edu	37	20	8719982	8719982	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:8719982C>A	ENST00000338037.6	+	21	2310	c.2283C>A	c.(2281-2283)atC>atA	p.I761I	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.I761I|PLCB1_ENST00000378641.3_Silent_p.I761I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	761	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.I761I(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCACCGTATCTTGCCAGTGC	0.408																																					p.I761I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2283A	20						.						93.0	89.0	90.0					20																	8719982		2203	4300	6503	8667982	SO:0001819	synonymous_variant	23236	exon21			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2283C>A	20.37:g.8719982C>A			8667982	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				0.408	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
PLCB1	23236	broad.mit.edu	37	20	8722118	8722118	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:8722118C>T	ENST00000338037.6	+	23	2448	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.I807I|PLCB1_ENST00000378641.3_Silent_p.I807I	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	807					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.I807I(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TAGATGTCATCGAAGCTTTAT	0.383																																					p.I807I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2421T	20						.						115.0	103.0	107.0					20																	8722118		2203	4300	6503	8670118	SO:0001819	synonymous_variant	23236	exon23			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2421C>T	20.37:g.8722118C>T			8670118	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				0.383	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
PLCB4	5332	broad.mit.edu	37	20	9401961	9401961	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:9401961C>A	ENST00000378493.1	+	23	2151	c.2136C>A	c.(2134-2136)ttC>ttA	p.F712L	PLCB4_ENST00000334005.3_Missense_Mutation_p.F712L|PLCB4_ENST00000278655.4_Missense_Mutation_p.F712L|PLCB4_ENST00000378473.3_Missense_Mutation_p.F724L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.F724L|PLCB4_ENST00000378501.2_Missense_Mutation_p.F712L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	712	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.F712L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGGTCAATTCTTATCAGATA	0.403																																					p.F712L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2136A	20						.						88.0	85.0	86.0					20																	9401961		2203	4300	6503	9349961	SO:0001583	missense	5332	exon23				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2136C>A	20.37:g.9401961C>A	ENSP00000367754:p.Phe712Leu		9349961	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398525	0.83120	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58	5.68	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093709	0.85682	D	0.000000	T	0.30324	0.0761	L	0.49640	1.575	0.80722	D	1	D;P;D;D	0.89917	1.0;0.825;0.989;0.99	D;B;D;P	0.87578	0.998;0.278;0.983;0.857	T	0.01734	-1.1285	10	0.66056	D	0.02	.	11.9572	0.52988	0.0:0.8512:0.0:0.1488	.	724;559;712;712	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	712;724;712;712;712;560	ENSP00000334105:F712L;ENSP00000367734:F724L;ENSP00000278655:F712L;ENSP00000367754:F712L;ENSP00000367762:F712L;ENSP00000390616:F560L	ENSP00000278655:F712L	F	+	3	2	PLCB4	9349961	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.603000	0.36794	1.350000	0.45770	0.467000	0.42956	TTC		0.403	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
LAMP5	24141	broad.mit.edu	37	20	9498747	9498747	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:9498747C>T	ENST00000246070.2	+	5	1028	c.536C>T	c.(535-537)tCc>tTc	p.S179F	LAMP5_ENST00000427562.2_Missense_Mutation_p.S135F	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	179						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)		p.S179F(1)									GCTGGGAAGTCCTATGAGTGT	0.537																																					p.S135F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C404T	20						.						122.0	96.0	105.0					20																	9498747		2203	4300	6503	9446747	SO:0001583	missense	24141	exon4			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.536C>T	20.37:g.9498747C>T	ENSP00000246070:p.Ser179Phe		9446747	NM_001199897	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041945	0.93685	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.57436	0.4;0.4	5.93	5.93	0.95920	.	0.049906	0.85682	D	0.000000	T	0.63022	0.2476	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.961	T	0.57757	-0.7756	9	.	.	.	-13.5095	20.3539	0.98825	0.0:1.0:0.0:0.0	.	135;179	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	F	179;135	ENSP00000246070:S179F;ENSP00000406360:S135F	.	S	+	2	0	C20orf103	9446747	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.361000	0.79497	2.826000	0.97356	0.655000	0.94253	TCC		0.537	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	
PAK7	57144	broad.mit.edu	37	20	9561309	9561309	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:9561309G>A	ENST00000378429.3	-	5	1019	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PAK7_ENST00000378423.1_Missense_Mutation_p.P158L|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.P158L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	158	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P158L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCTATAATACGGATCCAGATC	0.478																																					p.P158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	20						.						185.0	178.0	180.0					20																	9561309		2203	4300	6503	9509309	SO:0001583	missense	57144	exon4			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.473C>T	20.37:g.9561309G>A	ENSP00000367686:p.Pro158Leu		9509309	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	0.771	-0.765859	0.02974	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.40225	1.04;1.04;1.04	5.31	0.942	0.19525	.	0.839167	0.10931	N	0.618373	T	0.18299	0.0439	N	0.04959	-0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26677	-1.0096	9	.	.	.	.	5.6268	0.17487	0.4021:0.2538:0.3441:0.0	.	158;158	B0AZM9;Q9P286	.;PAK7_HUMAN	L	158;158;158;106	ENSP00000367686:P158L;ENSP00000322957:P158L;ENSP00000367679:P158L	.	P	-	2	0	PAK7	9509309	0.002000	0.14202	0.005000	0.12908	0.073000	0.16967	1.427000	0.34881	0.241000	0.21283	-0.280000	0.10049	CCG		0.478	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
PAK7	57144	broad.mit.edu	37	20	9561418	9561418	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:9561418C>A	ENST00000378429.3	-	5	910	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PAK7_ENST00000378423.1_Nonsense_Mutation_p.E122*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.E122*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	122	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E122*(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGCCATTTTCTTCCGCGTGG	0.527																																					p.E122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G364T	20						.						186.0	188.0	187.0					20																	9561418		2203	4300	6503	9509418	SO:0001587	stop_gained	57144	exon4			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.364G>T	20.37:g.9561418C>A	ENSP00000367686:p.Glu122*		9509418	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.377642	0.97520	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.22	5.22	0.72569	.	0.046001	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;122;70	.	.	E	-	1	0	PAK7	9509418	1.000000	0.71417	0.997000	0.53966	0.338000	0.28826	5.777000	0.68931	2.445000	0.82738	0.563000	0.77884	GAA		0.527	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
ANKEF1	63926	broad.mit.edu	37	20	10019076	10019076	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10019076A>G	ENST00000378380.3	+	2	456	c.127A>G	c.(127-129)Aca>Gca	p.T43A	ANKEF1_ENST00000378392.1_Missense_Mutation_p.T43A|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	43							calcium ion binding (GO:0005509)	p.T43A(1)									AATCAATTATACAGAACCCAT	0.413																																					p.T43A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127G	20						.						106.0	102.0	103.0					20																	10019076		2203	4300	6503	9967076	SO:0001583	missense	63926	exon2			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.127A>G	20.37:g.10019076A>G	ENSP00000367631:p.Thr43Ala		9967076	NM_198798	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627386	0.66901	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70631	-0.5;-0.5	5.93	5.93	0.95920	Ankyrin repeat-containing domain (3);	0.091306	0.85682	D	0.000000	T	0.69672	0.3137	N	0.25144	0.715	0.58432	D	0.999994	D	0.56746	0.977	P	0.55011	0.766	T	0.68573	-0.5373	9	.	.	.	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	43	Q9NU02	ANKR5_HUMAN	A	43	ENSP00000367644:T43A;ENSP00000367631:T43A	.	T	+	1	0	ANKRD5	9967076	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.008000	0.70739	2.261000	0.74972	0.528000	0.53228	ACA		0.413	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
ANKEF1	63926	broad.mit.edu	37	20	10025099	10025099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10025099C>T	ENST00000378380.3	+	4	933	c.604C>T	c.(604-606)Cga>Tga	p.R202*	ANKEF1_ENST00000378392.1_Nonsense_Mutation_p.R202*|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	202							calcium ion binding (GO:0005509)	p.R202*(1)									GGAAATAGTTCGAGGCATATT	0.438																																					p.R202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C604T	20						.						213.0	194.0	200.0					20																	10025099		2203	4300	6503	9973099	SO:0001587	stop_gained	63926	exon4			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.604C>T	20.37:g.10025099C>T	ENSP00000367631:p.Arg202*		9973099	NM_198798	B3KUQ0|Q9H6Y9	Nonsense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	C	39	7.529295	0.98339	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	.	.	.	5.24	4.29	0.51040	.	0.171354	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-2.1216	15.4315	0.75102	0.1403:0.8597:0.0:0.0	.	.	.	.	X	202	.	ENSP00000367631:R202X	R	+	1	2	ANKRD5	9973099	1.000000	0.71417	0.976000	0.42696	0.720000	0.41350	3.999000	0.57031	1.313000	0.45069	0.655000	0.94253	CGA		0.438	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
ANKEF1	63926	broad.mit.edu	37	20	10030099	10030099	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10030099C>T	ENST00000378380.3	+	6	1211	c.882C>T	c.(880-882)ggC>ggT	p.G294G	ANKEF1_ENST00000378392.1_Silent_p.G294G|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	294							calcium ion binding (GO:0005509)	p.G294G(1)									CTAAGGAAGGCGGCTTCAAAG	0.448																																					p.G294G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	20						.						96.0	110.0	106.0					20																	10030099		2203	4300	6503	9978099	SO:0001819	synonymous_variant	63926	exon6			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.882C>T	20.37:g.10030099C>T			9978099	NM_198798	B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	CCDS13108.1																																																																																				0.448	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
ANKEF1	63926	broad.mit.edu	37	20	10030617	10030617	+	Missense_Mutation	SNP	G	G	T	rs148551222		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:10030617G>T	ENST00000378380.3	+	6	1729	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R467L|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	467							calcium ion binding (GO:0005509)	p.R467L(1)									GATAGCAGCCGGTTTAATAGA	0.443																																					p.R467L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1400T	20						.						141.0	126.0	131.0					20																	10030617		2203	4300	6503	9978617	SO:0001583	missense	63926	exon6			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1400G>T	20.37:g.10030617G>T	ENSP00000367631:p.Arg467Leu		9978617	NM_198798	B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586890	0.28268	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.69926	-0.44;-0.44	5.77	4.82	0.62117	Ankyrin repeat-containing domain (1);	0.162599	0.52532	D	0.000078	T	0.76140	0.3946	M	0.70275	2.135	0.22280	N	0.999234	D	0.64830	0.994	P	0.57911	0.829	T	0.69522	-0.5123	10	0.66056	D	0.02	-0.6943	12.9385	0.58329	0.1272:0.0:0.8727:0.0	.	467	Q9NU02	ANKR5_HUMAN	L	467	ENSP00000367644:R467L;ENSP00000367631:R467L	ENSP00000367631:R467L	R	+	2	0	ANKRD5	9978617	0.698000	0.27777	0.088000	0.20740	0.003000	0.03518	3.343000	0.52167	2.885000	0.99019	0.655000	0.94253	CGG		0.443	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096	
MYT1	4661	broad.mit.edu	37	20	62848610	62848610	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:62848610G>A	ENST00000328439.1	+	11	2186	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	MYT1_ENST00000360149.4_Missense_Mutation_p.E310K|MYT1_ENST00000536311.1_Missense_Mutation_p.E608K	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E608K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCAGACCAGCGAAACCTCACC	0.498																																					p.E608K	GBM(59;481 1041 20555 21139 33705)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1822A	20						.						89.0	85.0	87.0					20																	62848610		2203	4300	6503	62319054	SO:0001583	missense	4661	exon11			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1822G>A	20.37:g.62848610G>A	ENSP00000327465:p.Glu608Lys		62319054	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470894	0.84533	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.47869	0.83;0.83;0.83	5.55	5.55	0.83447	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	N	0.25890	0.77	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.83275	0.973;0.806;0.996	T	0.52682	-0.8543	10	0.28530	T	0.3	-19.0414	19.5144	0.95157	0.0:0.0:1.0:0.0	.	608;608;310	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	K	310;608;608	ENSP00000353269:E310K;ENSP00000327465:E608K;ENSP00000442412:E608K	ENSP00000327465:E608K	E	+	1	0	MYT1	62319054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.725000	0.98778	2.618000	0.88619	0.655000	0.94253	GAA		0.498	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
DIO3	1735	broad.mit.edu	37	14	102028404	102028404	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102028404G>A	ENST00000510508.4	+	1	717	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.V165I			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	191					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)	p.V165I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCAGCGCGACGTCGACTTCCT	0.622																																					p.V191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	14						.						51.0	57.0	55.0					14																	102028404		2102	4202	6304	101098157	SO:0001583	missense	1735	exon1			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.571G>A	14.37:g.102028404G>A	ENSP00000427336:p.Val191Ile		101098157	NM_001362	G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243441	0.79912	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.49139	0.79;0.79	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.093065	0.40222	U	0.001146	T	0.36193	0.0958	N	0.19112	0.55	0.80722	D	1	D	0.59767	0.986	P	0.48114	0.567	T	0.25745	-1.0123	10	0.72032	D	0.01	.	8.2607	0.31783	0.1105:0.0:0.8895:0.0	.	165	P55073	IOD3_HUMAN	I	165;191	ENSP00000352273:V165I;ENSP00000427336:V191I	ENSP00000352273:V191I	V	+	1	0	DIO3;AL049836.1	101098157	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.685000	0.84117	1.799000	0.52666	0.462000	0.41574	GTC		0.622	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362	
PPP2R5C	5527	broad.mit.edu	37	14	102359423	102359423	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102359423C>A	ENST00000334743.5	+	7	824	c.776C>A	c.(775-777)tCt>tAt	p.S259Y	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.S290Y|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.S259Y|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.S259Y|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.S259Y|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.S314Y	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	259					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.S259Y(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAGTGAAATCTCTGAGTGTC	0.413																																					p.S259Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C776A	14						.						86.0	79.0	82.0					14																	102359423		2203	4300	6503	101429176	SO:0001583	missense	5527	exon7			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.776C>A	14.37:g.102359423C>A	ENSP00000333905:p.Ser259Tyr		101429176	NM_178587	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296661	0.95574	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.51574	0.71;0.71;0.7;0.76;0.7	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	M	0.91510	3.215	0.80722	D	1	D;P;D;D;D;D	0.89917	0.998;0.936;1.0;1.0;0.962;1.0	P;B;D;D;P;D	0.85130	0.865;0.439;0.992;0.995;0.785;0.997	T	0.82039	-0.0655	10	0.72032	D	0.01	-18.1777	19.3508	0.94384	0.0:1.0:0.0:0.0	.	290;157;259;259;259;314	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	Y	290;314;288;259;157;259;259;259;55	ENSP00000412324:S290Y;ENSP00000329009:S314Y;ENSP00000450931:S288Y;ENSP00000262239:S259Y;ENSP00000333905:S259Y	ENSP00000329009:S314Y	S	+	2	0	PPP2R5C	101429176	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.776000	0.85560	2.567000	0.86603	0.591000	0.81541	TCT		0.413	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	
DYNC1H1	1778	broad.mit.edu	37	14	102452477	102452477	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102452477C>T	ENST00000360184.4	+	8	2079	c.1915C>T	c.(1915-1917)Cgt>Tgt	p.R639C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	639	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R639C(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGTCACGTTCGTGACTTGCC	0.537																																					p.R639C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1915T	14						.						73.0	62.0	66.0					14																	102452477		2203	4300	6503	101522230	SO:0001583	missense	1778	exon8			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1915C>T	14.37:g.102452477C>T	ENSP00000348965:p.Arg639Cys		101522230	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331575	0.81690	.	.	ENSG00000197102	ENST00000360184	T	0.60040	0.22	5.85	5.85	0.93711	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	D	0.82559	0.5063	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.85939	0.1457	10	0.87932	D	0	.	20.155	0.98106	0.0:1.0:0.0:0.0	.	639	Q14204	DYHC1_HUMAN	C	639	ENSP00000348965:R639C	ENSP00000348965:R639C	R	+	1	0	DYNC1H1	101522230	1.000000	0.71417	0.798000	0.32154	0.702000	0.40608	7.484000	0.81180	2.760000	0.94817	0.655000	0.94253	CGT		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
DYNC1H1	1778	broad.mit.edu	37	14	102470912	102470912	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102470912C>T	ENST00000360184.4	+	24	5105	c.4941C>T	c.(4939-4941)gtC>gtT	p.V1647V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1647	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.V1647V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAAGAATGTCGCTAAATTAC	0.348																																					p.V1647V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4941T	14						.						92.0	87.0	89.0					14																	102470912		2203	4300	6503	101540665	SO:0001819	synonymous_variant	1778	exon24			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4941C>T	14.37:g.102470912C>T			101540665	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.348	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
DYNC1H1	1778	broad.mit.edu	37	14	102493853	102493853	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102493853G>A	ENST00000360184.4	+	46	9184	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3007	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R3007Q(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTGGAGCGAATGAATACC	0.443																																					p.R3007Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9020A	14						.						126.0	118.0	121.0					14																	102493853		2203	4300	6503	101563606	SO:0001583	missense	1778	exon46			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9020G>A	14.37:g.102493853G>A	ENSP00000348965:p.Arg3007Gln		101563606	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	36	5.839281	0.97009	.	.	ENSG00000197102	ENST00000360184	T	0.41758	0.99	5.81	5.81	0.92471	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74213	-0.3738	10	0.31617	T	0.26	.	20.0707	0.97721	0.0:0.0:1.0:0.0	.	3007	Q14204	DYHC1_HUMAN	Q	3007	ENSP00000348965:R3007Q	ENSP00000348965:R3007Q	R	+	2	0	DYNC1H1	101563606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.514000	0.98013	2.746000	0.94184	0.609000	0.83330	CGA		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
HSP90AA1	3320	broad.mit.edu	37	14	102551263	102551263	+	Nonsense_Mutation	SNP	C	C	A	rs3208445|rs557944512		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102551263C>A	ENST00000216281.8	-	5	941	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.E368*|HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E67*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	246					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.E368*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	tcttctttttctttttcttct	0.373																																					p.E246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G736T	14						.						54.0	51.0	52.0					14																	102551263		2203	4300	6503	101621016	SO:0001587	stop_gained	3320	exon5			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.736G>T	14.37:g.102551263C>A	ENSP00000216281:p.Glu246*		101621016	NM_005348	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.157654	0.78114	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	.	.	.	4.37	3.46	0.39613	.	0.373083	0.23187	U	0.050957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-14.214	8.3772	0.32451	0.0:0.8186:0.0:0.1814	.	.	.	.	X	246;368;67	.	ENSP00000216281:E246X	E	-	1	0	HSP90AA1	101621016	1.000000	0.71417	0.630000	0.29268	0.849000	0.48306	5.824000	0.69279	2.152000	0.67230	0.591000	0.81541	GAA		0.373	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348	
TECPR2	9895	broad.mit.edu	37	14	102900625	102900625	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:102900625G>A	ENST00000359520.7	+	9	1697	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	TECPR2_ENST00000558678.1_Missense_Mutation_p.E491K	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	491					autophagy (GO:0006914)|cell death (GO:0008219)			p.E491K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACCCTGCTCCGAATTTCCTGG	0.498																																					p.E491K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1471A	14						.						54.0	52.0	53.0					14																	102900625		2203	4300	6503	101970378	SO:0001583	missense	9895	exon9			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1471G>A	14.37:g.102900625G>A	ENSP00000352510:p.Glu491Lys		101970378	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621037	0.66787	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.17528	2.27	5.81	4.92	0.64577	.	0.361005	0.29260	N	0.012670	T	0.34164	0.0888	L	0.56769	1.78	0.31776	N	0.63154	D;D	0.76494	0.999;0.999	P;P	0.61533	0.89;0.89	T	0.44574	-0.9319	10	0.66056	D	0.02	.	13.12	0.59321	0.0736:0.0:0.9264:0.0	.	491;491	A5PKY3;O15040	.;TCPR2_HUMAN	K	491	ENSP00000352510:E491K	ENSP00000352510:E491K	E	+	1	0	TECPR2	101970378	1.000000	0.71417	0.233000	0.24025	0.345000	0.29048	4.808000	0.62583	1.467000	0.48044	0.650000	0.86243	GAA		0.498	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
RCOR1	23186	broad.mit.edu	37	14	103188610	103188610	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:103188610A>C	ENST00000570597.1	+	11	1267	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	RCOR1_ENST00000262241.6_Missense_Mutation_p.N426H			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	423	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.N423H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CTTTTTTGTAAATTATCGACG	0.418																																					p.N423H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1267C	14						.						93.0	98.0	97.0					14																	103188610		2203	4300	6503	102258363	SO:0001583	missense	23186	exon11			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.1267A>C	14.37:g.103188610A>C	ENSP00000459789:p.Asn423His		102258363	NM_015156	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37		.	.	.	.	.	.	.	.	.	.	A	28.2	4.902556	0.92035	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.74	5.74	0.90152	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.79741	0.4498	M	0.81802	2.56	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.81577	-0.0869	9	0.52906	T	0.07	-33.5799	16.0499	0.80749	1.0:0.0:0.0:0.0	.	423	Q9UKL0	RCOR1_HUMAN	H	423	.	ENSP00000262241:N423H	N	+	1	0	RCOR1	102258363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.193000	0.70182	0.533000	0.62120	AAT		0.418	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	
CDC42BPB	9578	broad.mit.edu	37	14	103436580	103436580	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:103436580C>A	ENST00000361246.2	-	14	2191	c.1903G>T	c.(1903-1905)Gat>Tat	p.D635Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.D635Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAACAGCATCATCAAGCTGA	0.527																																					p.D635Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1903T	14						.						58.0	49.0	52.0					14																	103436580		2203	4300	6503	102506333	SO:0001583	missense	9578	exon14			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1903G>T	14.37:g.103436580C>A	ENSP00000355237:p.Asp635Tyr		102506333	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957714	0.53400	.	.	ENSG00000198752	ENST00000361246	D	0.86627	-2.15	5.45	4.55	0.56014	.	0.135593	0.64402	D	0.000003	D	0.91590	0.7343	M	0.74258	2.255	0.80722	D	1	B	0.33583	0.418	P	0.49561	0.615	D	0.91712	0.5382	10	0.66056	D	0.02	.	15.5282	0.75928	0.1393:0.8607:0.0:0.0	.	635	Q9Y5S2	MRCKB_HUMAN	Y	635	ENSP00000355237:D635Y	ENSP00000355237:D635Y	D	-	1	0	CDC42BPB	102506333	1.000000	0.71417	0.023000	0.16930	0.232000	0.25224	7.610000	0.82949	1.261000	0.44149	0.655000	0.94253	GAT		0.527	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
CDC42BPB	9578	broad.mit.edu	37	14	103438344	103438344	+	Missense_Mutation	SNP	C	C	T	rs369423884		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:103438344C>T	ENST00000361246.2	-	13	2084	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.R599Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCCTTGTCTCGCAGCTGCCG	0.622																																					p.R599Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1796A	14						.	C	GLN/ARG	0,4406		0,0,2203	125.0	101.0	109.0		1796	5.4	1.0	14		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC42BPB	NM_006035.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	599/1712	103438344	1,13005	2203	4300	6503	102508097	SO:0001583	missense	9578	exon13			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1796G>A	14.37:g.103438344C>T	ENSP00000355237:p.Arg599Gln		102508097	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	36	5.919444	0.97105	0.0	1.16E-4	ENSG00000198752	ENST00000361246	D	0.82803	-1.65	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	M	0.83953	2.67	0.80722	D	1	P	0.39480	0.675	B	0.36608	0.229	D	0.87505	0.2436	10	0.66056	D	0.02	.	19.2513	0.93926	0.0:1.0:0.0:0.0	.	599	Q9Y5S2	MRCKB_HUMAN	Q	599	ENSP00000355237:R599Q	ENSP00000355237:R599Q	R	-	2	0	CDC42BPB	102508097	1.000000	0.71417	0.951000	0.38953	0.987000	0.75469	7.755000	0.85180	2.562000	0.86427	0.655000	0.94253	CGA		0.622	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
MARK3	4140	broad.mit.edu	37	14	103969545	103969545	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:103969545C>T	ENST00000429436.2	+	18	2753	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	MARK3_ENST00000416682.2_Missense_Mutation_p.A747V|MARK3_ENST00000553942.1_Missense_Mutation_p.A739V|MARK3_ENST00000303622.9_Missense_Mutation_p.A724V|MARK3_ENST00000216288.7_Missense_Mutation_p.A708V|MARK3_ENST00000335102.5_Missense_Mutation_p.A771V|MARK3_ENST00000440884.3_Missense_Mutation_p.A654V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	748	KA1. {ECO:0000255|PROSITE- ProRule:PRU00565}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A708V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TCCAAAATTGCCAATGAGCTA	0.393																																					p.A739V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2216T	14						.						56.0	56.0	56.0					14																	103969545		1934	4163	6097	103039298	SO:0001583	missense	4140	exon17			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2243C>T	14.37:g.103969545C>T	ENSP00000411397:p.Ala748Val		103039298	NM_001128919	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.483051|4.483051	0.84747|0.84747	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Kinase-associated KA1 (4);|.	0.046763|.	0.85682|.	D|.	0.000000|.	T|T	0.51856|0.51856	0.1699|0.1699	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	D;D;D;P;D;D;D;D;D|.	0.89917|.	0.998;0.999;1.0;0.941;0.996;0.997;0.977;1.0;0.996|.	D;D;D;P;D;D;P;D;D|.	0.79108|.	0.987;0.972;0.986;0.721;0.939;0.992;0.862;0.986;0.976|.	T|T	0.42327|0.42327	-0.9458|-0.9458	10|5	0.66056|.	D|.	0.02|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	755;326;747;457;708;748;654;739;724|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	V|S	771;440;654;747;748;724;708;739;326|500	ENSP00000335347:A771V;ENSP00000402104:A654V;ENSP00000408092:A747V;ENSP00000411397:A748V;ENSP00000303698:A724V;ENSP00000216288:A708V;ENSP00000450772:A739V;ENSP00000451623:A326V|.	ENSP00000216288:A739V|.	A|P	+|+	2|1	0|0	MARK3|MARK3	103039298|103039298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.403000|0.403000	0.30841|0.30841	7.770000|7.770000	0.85390|0.85390	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.393	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
BAG5	9529	broad.mit.edu	37	14	104026187	104026187	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:104026187C>T	ENST00000445922.2	-	2	1561	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	BAG5_ENST00000337322.4_Missense_Mutation_p.D480N|BAG5_ENST00000299204.4_Missense_Mutation_p.D439N|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	439	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.D439N(2)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GATTTCAGGTCGAGATAGCTG	0.453																																					p.D439N	NSCLC(171;1832 2055 18950 31566 41632)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1315A	14						.						125.0	122.0	123.0					14																	104026187		2203	4300	6503	103095940	SO:0001583	missense	9529	exon2			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1315G>A	14.37:g.104026187C>T	ENSP00000391713:p.Asp439Asn		103095940	NM_001015048	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314606	0.95655	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.96104	-3.91;-3.91;-3.91	5.87	5.87	0.94306	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97641	1.0148	10	0.87932	D	0	-44.4964	20.5827	0.99408	0.0:1.0:0.0:0.0	.	439;480	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	N	439;439;480	ENSP00000299204:D439N;ENSP00000391713:D439N;ENSP00000338814:D480N	ENSP00000299204:D439N	D	-	1	0	BAG5	103095940	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.195000	0.77798	2.941000	0.99782	0.655000	0.94253	GAC		0.453	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1		
BAG5	9529	broad.mit.edu	37	14	104026334	104026334	+	Nonsense_Mutation	SNP	G	G	A	rs182208325		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:104026334G>A	ENST00000445922.2	-	2	1414	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	APOPT1_ENST00000556253.2_5'Flank|BAG5_ENST00000337322.4_Nonsense_Mutation_p.R431*|BAG5_ENST00000299204.4_Nonsense_Mutation_p.R390*|APOPT1_ENST00000247618.4_5'Flank|APOPT1_ENST00000409074.2_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	390	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.R390*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTATCGGTTCGATTTCCATCA	0.512																																					p.R390X	NSCLC(171;1832 2055 18950 31566 41632)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1168T	14						.						75.0	80.0	78.0					14																	104026334		2203	4300	6503	103096087	SO:0001587	stop_gained	9529	exon2			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1168C>T	14.37:g.104026334G>A	ENSP00000391713:p.Arg390*		103096087	NM_001015048	O94950|Q86W59	Nonsense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565638	0.96540	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	.	.	.	5.85	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0107	13.6318	0.62200	0.0:0.0:0.5719:0.4281	.	.	.	.	X	390;390;431	.	ENSP00000299204:R390X	R	-	1	2	BAG5	103096087	0.943000	0.32029	0.020000	0.16555	0.688000	0.40055	1.363000	0.34159	1.435000	0.47434	0.563000	0.77884	CGA		0.512	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1		
PPP1R13B	23368	broad.mit.edu	37	14	104204146	104204146	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:104204146C>A	ENST00000202556.9	-	15	3198	c.2916G>T	c.(2914-2916)caG>caT	p.Q972H	PPP1R13B_ENST00000423488.2_Intron|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	972					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q972H(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCCACCAGCTGTTTGCAGA	0.562																																					p.Q972H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2916T	14						.						55.0	58.0	57.0					14																	104204146		2150	4261	6411	103273899	SO:0001583	missense	23368	exon15			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2916G>T	14.37:g.104204146C>A	ENSP00000202556:p.Gln972His		103273899	NM_015316	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108752	0.56291	.	.	ENSG00000088808	ENST00000202556	T	0.64803	-0.12	5.14	5.14	0.70334	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.189555	0.46758	D	0.000266	T	0.54983	0.1892	N	0.16656	0.425	0.80722	D	1	D	0.57257	0.979	P	0.55222	0.771	T	0.56025	-0.8047	10	0.48119	T	0.1	.	7.8954	0.29704	0.1641:0.7486:0.0:0.0873	.	972	Q96KQ4	ASPP1_HUMAN	H	972	ENSP00000202556:Q972H	ENSP00000202556:Q972H	Q	-	3	2	PPP1R13B	103273899	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.854000	0.27791	2.671000	0.90904	0.655000	0.94253	CAG		0.562	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
TDRD9	122402	broad.mit.edu	37	14	104481165	104481165	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:104481165G>A	ENST00000409874.4	+	21	2258	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	TDRD9_ENST00000339063.5_Missense_Mutation_p.R737Q|RN7SL634P_ENST00000485467.2_RNA	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	737					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R737Q(1)|p.R452Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TATAAGCAGCGATTCATCCTA	0.398																																					p.R737Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2210A	14						.						137.0	136.0	136.0					14																	104481165		2203	4300	6503	103550918	SO:0001583	missense	122402	exon21			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2210G>A	14.37:g.104481165G>A	ENSP00000387303:p.Arg737Gln		103550918	NM_153046	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	CCDS9987.2	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594738	0.46318	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03413	3.94;3.95	4.94	4.94	0.65067	.	0.324112	0.25148	N	0.032775	T	0.06325	0.0163	L	0.54323	1.7	0.43103	D	0.994797	D;P	0.58620	0.983;0.931	B;B	0.43838	0.433;0.201	T	0.34403	-0.9830	10	0.42905	T	0.14	.	13.9138	0.63883	0.0764:0.0:0.9235:0.0	.	737;737	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	Q	737	ENSP00000387303:R737Q;ENSP00000343545:R737Q	ENSP00000343545:R737Q	R	+	2	0	TDRD9	103550918	0.989000	0.36119	0.994000	0.49952	0.719000	0.41307	2.047000	0.41269	2.447000	0.82792	0.563000	0.77884	CGA		0.398	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
AHNAK2	113146	broad.mit.edu	37	14	105405983	105405983	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105405983G>T	ENST00000333244.5	-	7	15924	c.15805C>A	c.(15805-15807)Cta>Ata	p.L5269I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L267I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5269				L -> P (in Ref. 5; CAD98019). {ECO:0000305}.		costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L5269I(1)|p.L239I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACACCTTAGAATATCTGTG	0.517																																					p.L5269I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C15805A	14						.						130.0	136.0	134.0					14																	105405983		2044	4193	6237	104477028	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15805C>A	14.37:g.105405983G>T	ENSP00000353114:p.Leu5269Ile		104477028	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555942	0.45487	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.03524	3.9;5.38	5.18	1.13	0.20643	.	0.800496	0.10040	U	0.723637	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	1	P	0.43938	0.822	B	0.37387	0.248	T	0.46582	-0.9181	10	0.35671	T	0.21	.	4.9159	0.13846	0.2628:0.3045:0.4328:0.0	.	5269	Q8IVF2	AHNK2_HUMAN	I	267;5269	ENSP00000450998:L267I;ENSP00000353114:L5269I	ENSP00000353114:L5269I	L	-	1	2	AHNAK2	104477028	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.637000	0.24659	0.010000	0.14839	-0.258000	0.10820	CTA		0.517	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105407446	105407446	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105407446G>T	ENST00000333244.5	-	7	14461	c.14342C>A	c.(14341-14343)tCt>tAt	p.S4781Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4781						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S4781Y(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGAATAGAAGATTCAAAGTG	0.498																																					p.S4781Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14342A	14						.						93.0	98.0	96.0					14																	105407446		1940	4134	6074	104478491	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14342C>A	14.37:g.105407446G>T	ENSP00000353114:p.Ser4781Tyr		104478491	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217224	0.39201	.	.	ENSG00000185567	ENST00000333244	T	0.06294	3.32	3.65	-7.3	0.01446	.	.	.	.	.	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B	0.34241	0.444	B	0.31101	0.124	T	0.39683	-0.9602	9	0.46703	T	0.11	.	2.0372	0.03542	0.3345:0.3283:0.2276:0.1096	.	4781	Q8IVF2	AHNK2_HUMAN	Y	4781	ENSP00000353114:S4781Y	ENSP00000353114:S4781Y	S	-	2	0	AHNAK2	104478491	.	.	0.000000	0.03702	0.016000	0.09150	.	.	-0.863000	0.04084	0.460000	0.39030	TCT		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105409027	105409027	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105409027G>A	ENST00000333244.5	-	7	12880	c.12761C>T	c.(12760-12762)aCc>aTc	p.T4254I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4254						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T4254I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACGACGGGGGTCATCACATC	0.647																																					p.T4254I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12761T	14						.						119.0	131.0	127.0					14																	105409027		1917	4124	6041	104480072	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12761C>T	14.37:g.105409027G>A	ENSP00000353114:p.Thr4254Ile		104480072	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	6.278	0.419360	0.11928	.	.	ENSG00000185567	ENST00000333244	T	0.00588	6.37	3.8	-2.81	0.05805	.	0.477164	0.14587	U	0.310494	T	0.00552	0.0018	L	0.48642	1.525	0.09310	N	1	B	0.31193	0.312	B	0.36922	0.236	T	0.45542	-0.9254	10	0.38643	T	0.18	-11.9676	1.3481	0.02167	0.3241:0.1474:0.3793:0.1493	.	4254	Q8IVF2	AHNK2_HUMAN	I	4254	ENSP00000353114:T4254I	ENSP00000353114:T4254I	T	-	2	0	AHNAK2	104480072	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.775000	0.01783	-0.171000	0.10797	-0.772000	0.03388	ACC		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105409382	105409382	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105409382G>A	ENST00000333244.5	-	7	12525	c.12406C>T	c.(12406-12408)Ccc>Tcc	p.P4136S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4136						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P4136S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAACTTGGGCATTTTGAAC	0.597																																					p.P4136S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12406T	14						.						293.0	304.0	300.0					14																	105409382		2011	4138	6149	104480427	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12406C>T	14.37:g.105409382G>A	ENSP00000353114:p.Pro4136Ser		104480427	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	21.6	4.169196	0.78339	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	4.11	4.11	0.48088	.	.	.	.	.	T	0.28300	0.0699	H	0.95437	3.67	0.33110	D	0.540379	D	0.89917	1.0	D	0.91635	0.999	T	0.58929	-0.7549	9	0.54805	T	0.06	.	16.428	0.83831	0.0:0.0:1.0:0.0	.	4136	Q8IVF2	AHNK2_HUMAN	S	4136	ENSP00000353114:P4136S	ENSP00000353114:P4136S	P	-	1	0	AHNAK2	104480427	0.878000	0.30173	1.000000	0.80357	0.786000	0.44442	1.269000	0.33074	1.865000	0.54081	0.485000	0.47835	CCC		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105411170	105411170	+	Nonsense_Mutation	SNP	C	C	A	rs200970518		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105411170C>A	ENST00000333244.5	-	7	10737	c.10618G>T	c.(10618-10620)Gaa>Taa	p.E3540*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3540						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E3540*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGAGTTCCACATCCACT	0.632																																					p.E3540X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G10618T	14						.						93.0	100.0	98.0					14																	105411170		1910	4119	6029	104482215	SO:0001587	stop_gained	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10618G>T	14.37:g.105411170C>A	ENSP00000353114:p.Glu3540*		104482215	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	51	17.542485	0.99888	.	.	ENSG00000185567	ENST00000333244	.	.	.	3.76	-3.73	0.04398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	1.5586	0.02589	0.1319:0.2672:0.1349:0.466	.	.	.	.	X	3540	.	ENSP00000353114:E3540X	E	-	1	0	AHNAK2	104482215	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.268000	0.09312	-1.451000	0.01035	GAA		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105411838	105411838	+	Missense_Mutation	SNP	G	G	A	rs375227548		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105411838G>A	ENST00000333244.5	-	7	10069	c.9950C>T	c.(9949-9951)tCg>tTg	p.S3317L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3317						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S3317L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGCCCTGTACGACGGCATCTT	0.617																																					p.S3317L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9950T	14						.	G	LEU/SER	0,4020		0,0,2010	193.0	192.0	193.0		9950	3.2	0.1	14		193	1,8323		0,1,4161	no	missense	AHNAK2	NM_138420.2	145	0,1,6171	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	3317/5796	105411838	1,12343	2010	4162	6172	104482883	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9950C>T	14.37:g.105411838G>A	ENSP00000353114:p.Ser3317Leu		104482883	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.31	1.601818	0.28534	0.0	1.2E-4	ENSG00000185567	ENST00000333244	T	0.01902	4.57	4.23	3.25	0.37280	.	.	.	.	.	T	0.07503	0.0189	M	0.90542	3.125	0.09310	N	1	D	0.56746	0.977	P	0.48488	0.579	T	0.21759	-1.0236	9	0.27082	T	0.32	.	8.7959	0.34878	0.0:0.2575:0.5969:0.1456	.	3317	Q8IVF2	AHNK2_HUMAN	L	3317	ENSP00000353114:S3317L	ENSP00000353114:S3317L	S	-	2	0	AHNAK2	104482883	0.002000	0.14202	0.050000	0.19076	0.061000	0.15899	0.871000	0.28023	1.929000	0.55896	0.485000	0.47835	TCG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105412944	105412944	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105412944G>A	ENST00000333244.5	-	7	8963	c.8844C>T	c.(8842-8844)gtC>gtT	p.V2948V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2948						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V2948V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGGGCCTCGACGTCCACCT	0.627																																					p.V2948V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8844T	14						.						150.0	163.0	159.0					14																	105412944		1994	4168	6162	104483989	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8844C>T	14.37:g.105412944G>A			104483989	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105418521	105418521	+	Missense_Mutation	SNP	G	G	T	rs142241633	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105418521G>T	ENST00000333244.5	-	7	3386	c.3267C>A	c.(3265-3267)ttC>ttA	p.F1089L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1089						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.F1089L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATCTTGAAACTGGGCA	0.632																																					p.F1089L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3267A	14						.						128.0	149.0	143.0					14																	105418521		1865	4104	5969	104489566	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3267C>A	14.37:g.105418521G>T	ENSP00000353114:p.Phe1089Leu		104489566	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.212693	0.00289	.	.	ENSG00000185567	ENST00000333244	T	0.00570	6.51	3.09	-0.189	0.13260	.	.	.	.	.	T	0.00468	0.0015	L	0.33668	1.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49031	-0.8981	9	0.02654	T	1	.	17.0326	0.86465	0.0:0.4545:0.5455:0.0	.	1089	Q8IVF2	AHNK2_HUMAN	L	1089	ENSP00000353114:F1089L	ENSP00000353114:F1089L	F	-	3	2	AHNAK2	104489566	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.199000	0.03032	-0.803000	0.04415	-3.858000	0.00018	TTC		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105420682	105420682	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105420682G>A	ENST00000333244.5	-	7	1225	c.1106C>T	c.(1105-1107)aCt>aTt	p.T369I	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	369						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T369I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGCCCCAGTCTCCTCGAG	0.637																																					p.T369I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1106T	14						.						56.0	59.0	58.0					14																	105420682		1989	4159	6148	104491727	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1106C>T	14.37:g.105420682G>A	ENSP00000353114:p.Thr369Ile		104491727	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.248088	0.22880	.	.	ENSG00000185567	ENST00000333244	T	0.03496	3.91	3.69	-0.951	0.10369	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.42982	-0.9419	9	0.35671	T	0.21	.	8.0447	0.30542	0.0947:0.4613:0.444:0.0	.	369	Q8IVF2	AHNK2_HUMAN	I	369	ENSP00000353114:T369I	ENSP00000353114:T369I	T	-	2	0	AHNAK2	104491727	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.953000	0.03877	-0.311000	0.08754	0.650000	0.86243	ACT		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4N2	390429	broad.mit.edu	37	14	20296066	20296066	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20296066T>C	ENST00000315947.1	+	1	459	c.459T>C	c.(457-459)ttT>ttC	p.F153F	OR4N2_ENST00000568211.1_Silent_p.F153F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGGGGTTTTGTCCACTCCA	0.527																																					p.F153F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T459C	14						.						129.0	141.0	137.0					14																	20296066		2203	4300	6503	19365906	SO:0001819	synonymous_variant	390429	exon1				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.459T>C	14.37:g.20296066T>C			19365906	NM_001004723	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	CCDS32022.1																																																																																				0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
OR4K2	390431	broad.mit.edu	37	14	20344474	20344474	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20344474G>A	ENST00000298642.2	+	1	84	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTGCTGGGGCTCTCTAATT	0.373																																					p.G16G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G48A	14						.						192.0	208.0	203.0					14																	20344474		2203	4300	6503	19414314	SO:0001819	synonymous_variant	390431	exon1				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.48G>A	14.37:g.20344474G>A			19414314	NM_001005501	B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	CCDS32023.1																																																																																				0.373	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
OR4K5	79317	broad.mit.edu	37	14	20389623	20389623	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20389623T>G	ENST00000315915.4	+	1	883	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I286M(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCCATTATTTATACACTAA	0.403																																					p.I286M												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.T858G	14						.						123.0	135.0	131.0					14																	20389623		2203	4300	6503	19459463	SO:0001583	missense	79317	exon1			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.858T>G	14.37:g.20389623T>G	ENSP00000319511:p.Ile286Met		19459463	NM_001005483	Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.349518	0.24426	.	.	ENSG00000176281	ENST00000315915	T	0.57273	0.41	4.28	-0.614	0.11590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.63022	0.2476	M	0.74546	2.27	0.31540	N	0.660065	D	0.89917	1.0	D	0.76575	0.988	T	0.62927	-0.6750	10	0.87932	D	0	.	3.7476	0.08554	0.1635:0.3316:0.0:0.5049	.	286	Q8NGD3	OR4K5_HUMAN	M	286	ENSP00000319511:I286M	ENSP00000319511:I286M	I	+	3	3	OR4K5	19459463	0.011000	0.17503	0.030000	0.17652	0.196000	0.23810	-1.595000	0.02093	-0.283000	0.09115	0.533000	0.62120	ATT		0.403	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
OR4K15	81127	broad.mit.edu	37	14	20444261	20444261	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20444261C>A	ENST00000305051.5	+	1	659	c.584C>A	c.(583-585)cCt>cAt	p.P195H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P195H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTGTGGTCCTAATAAGGTA	0.438																																					p.P195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584A	14						.						176.0	168.0	171.0					14																	20444261		2203	4299	6502	19514101	SO:0001583	missense	81127	exon1				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.584C>A	14.37:g.20444261C>A	ENSP00000304077:p.Pro195His		19514101	NM_001005486	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.219118	0.58560	.	.	ENSG00000169488	ENST00000305051	T	0.38077	1.16	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000110	T	0.52948	0.1766	M	0.61703	1.905	0.41567	D	0.988669	D	0.64830	0.994	P	0.61940	0.896	T	0.59337	-0.7473	10	0.87932	D	0	.	13.5924	0.61967	0.0:1.0:0.0:0.0	.	195	Q8NH41	OR4KF_HUMAN	H	195	ENSP00000304077:P195H	ENSP00000304077:P195H	P	+	2	0	OR4K15	19514101	0.005000	0.15991	0.914000	0.36105	0.810000	0.45777	1.273000	0.33121	2.045000	0.60652	0.585000	0.79938	CCT		0.438	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
OR4K15	81127	broad.mit.edu	37	14	20444436	20444436	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20444436C>A	ENST00000305051.5	+	1	834	c.759C>A	c.(757-759)tcC>tcA	p.S253S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S253S(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAATCGCTCCTCTGCAAGCA	0.453																																					p.S253S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759A	14						.						125.0	111.0	115.0					14																	20444436		2203	4300	6503	19514276	SO:0001819	synonymous_variant	81127	exon1				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.759C>A	14.37:g.20444436C>A			19514276	NM_001005486	B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	CCDS32026.1																																																																																				0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1		
OR4K14	122740	broad.mit.edu	37	14	20483341	20483341	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20483341C>T	ENST00000305045.2	-	1	11	c.12G>A	c.(10-12)caG>caA	p.Q4Q		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q4Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGGAATAGTTCTGTGGGTCCA	0.373																																					p.Q4Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	14						.						40.0	41.0	41.0					14																	20483341		2157	4266	6423	19553181	SO:0001819	synonymous_variant	122740	exon1				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.12G>A	14.37:g.20483341C>T			19553181	NM_001004712	Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	CCDS32027.1																																																																																				0.373	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1		
OR4K13	390433	broad.mit.edu	37	14	20502223	20502223	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20502223C>T	ENST00000315693.2	-	1	696	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R232Q(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTAGAGGATCGACTAGCAGC	0.493																																					p.R232Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	14						.						139.0	123.0	128.0					14																	20502223		2203	4300	6503	19572063	SO:0001583	missense	390433	exon1				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.695G>A	14.37:g.20502223C>T	ENSP00000319322:p.Arg232Gln		19572063	NM_001004714	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	6.366	0.435699	0.12104	.	.	ENSG00000176253	ENST00000315693	T	0.00076	8.76	3.31	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.393919	0.18036	U	0.153795	T	0.00109	0.0003	N	0.20807	0.61	0.09310	N	1	B	0.27316	0.175	B	0.31016	0.123	T	0.21484	-1.0244	10	0.87932	D	0	.	6.5092	0.22212	0.0:0.5366:0.3568:0.1066	.	232	Q8NH42	OR4KD_HUMAN	Q	232	ENSP00000319322:R232Q	ENSP00000319322:R232Q	R	-	2	0	OR4K13	19572063	0.000000	0.05858	0.006000	0.13384	0.085000	0.17905	0.249000	0.18216	0.095000	0.17434	-0.413000	0.06143	CGA		0.493	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
OR4K13	390433	broad.mit.edu	37	14	20502705	20502705	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20502705C>A	ENST00000315693.2	-	1	214	c.213G>T	c.(211-213)atG>atT	p.M71I	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M71I(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGCCAGGATCATATCAATGC	0.438																																					p.M71I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G213T	14						.						106.0	99.0	101.0					14																	20502705		2203	4300	6503	19572545	SO:0001583	missense	390433	exon1				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.213G>T	14.37:g.20502705C>A	ENSP00000319322:p.Met71Ile		19572545	NM_001004714	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	2.010	-0.427393	0.04701	.	.	ENSG00000176253	ENST00000315693	T	0.01804	4.63	3.64	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.143817	0.31636	U	0.007306	T	0.00815	0.0027	N	0.02876	-0.465	0.09310	N	1	B	0.16166	0.016	B	0.17979	0.02	T	0.49163	-0.8968	10	0.13470	T	0.59	.	5.6702	0.17717	0.0:0.7424:0.0:0.2576	.	71	Q8NH42	OR4KD_HUMAN	I	71	ENSP00000319322:M71I	ENSP00000319322:M71I	M	-	3	0	OR4K13	19572545	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.868000	0.04236	0.246000	0.21394	-0.335000	0.08231	ATG		0.438	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
OR4L1	122742	broad.mit.edu	37	14	20528284	20528284	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20528284C>A	ENST00000315683.1	+	1	81	c.81C>A	c.(79-81)ttC>ttA	p.F27L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F27L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAATTTTCTTCTTTGTGACAT	0.383																																					p.F27L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C81A	14						.						167.0	173.0	171.0					14																	20528284		2203	4300	6503	19598124	SO:0001583	missense	122742	exon1				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.81C>A	14.37:g.20528284C>A	ENSP00000319217:p.Phe27Leu		19598124	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.511	-0.866327	0.02590	.	.	ENSG00000176246	ENST00000315683	T	0.00672	5.89	3.84	2.94	0.34122	.	0.236658	0.29783	N	0.011205	T	0.00271	0.0008	N	0.00569	-1.365	0.19575	N	0.999966	B	0.16802	0.019	B	0.16722	0.016	T	0.45071	-0.9286	10	0.02654	T	1	.	6.3094	0.21156	0.0:0.7719:0.0:0.2281	.	27	Q8NH43	OR4L1_HUMAN	L	27	ENSP00000319217:F27L	ENSP00000319217:F27L	F	+	3	2	OR4L1	19598124	0.000000	0.05858	0.996000	0.52242	0.976000	0.68499	-0.491000	0.06474	0.962000	0.38057	0.639000	0.83563	TTC		0.383	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1		
OR4L1	122742	broad.mit.edu	37	14	20528521	20528521	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20528521C>A	ENST00000315683.1	+	1	318	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F106L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATGCACTTCTTTGGGGGTG	0.483																																					p.F106L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C318A	14						.						144.0	129.0	134.0					14																	20528521		2203	4300	6503	19598361	SO:0001583	missense	122742	exon1				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.318C>A	14.37:g.20528521C>A	ENSP00000319217:p.Phe106Leu		19598361	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.124	-1.122401	0.01785	.	.	ENSG00000176246	ENST00000315683	T	0.01323	5.01	3.99	-3.21	0.05140	GPCR, rhodopsin-like superfamily (1);	0.756875	0.12114	N	0.498297	T	0.00637	0.0021	N	0.04636	-0.2	0.18873	N	0.999988	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	10	0.08179	T	0.78	.	6.2385	0.20776	0.123:0.3097:0.4848:0.0824	.	106	Q8NH43	OR4L1_HUMAN	L	106	ENSP00000319217:F106L	ENSP00000319217:F106L	F	+	3	2	OR4L1	19598361	0.000000	0.05858	0.986000	0.45419	0.867000	0.49689	-2.317000	0.01122	-0.524000	0.06400	-0.158000	0.13435	TTC		0.483	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1		
OR4L1	122742	broad.mit.edu	37	14	20529107	20529107	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20529107C>T	ENST00000315683.1	+	1	904	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAAATTACGGTTCCAATA	0.303																																					p.R302W												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C904T	14						.						51.0	57.0	55.0					14																	20529107		2203	4298	6501	19598947	SO:0001583	missense	122742	exon1				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.904C>T	14.37:g.20529107C>T	ENSP00000319217:p.Arg302Trp		19598947	NM_001004717	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	5.014	0.188196	0.09547	.	.	ENSG00000176246	ENST00000315683	T	0.36699	1.24	4.26	-2.56	0.06268	.	2.575630	0.01495	N	0.017262	T	0.14527	0.0351	N	0.02876	-0.465	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.10405	-1.0631	10	0.33141	T	0.24	.	2.0985	0.03674	0.126:0.4334:0.124:0.3165	.	302	Q8NH43	OR4L1_HUMAN	W	302	ENSP00000319217:R302W	ENSP00000319217:R302W	R	+	1	2	OR4L1	19598947	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-4.922000	0.00170	-0.293000	0.08986	-1.223000	0.01593	CGG		0.303	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1		
OR4K17	390436	broad.mit.edu	37	14	20586179	20586179	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20586179T>C	ENST00000315543.4	+	1	614	c.614T>C	c.(613-615)gTa>gCa	p.V205A		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V205A(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCAATGTGGTAGACAGCATT	0.438																																					p.V205A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T614C	14						.						275.0	240.0	252.0					14																	20586179		2203	4300	6503	19656019	SO:0001583	missense	390436	exon1				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.614T>C	14.37:g.20586179T>C	ENSP00000319197:p.Val205Ala		19656019	NM_001004715	Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.138735	0.56936	.	.	ENSG00000176230	ENST00000315543	T	0.00123	8.7	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30969	U	0.008510	T	0.00412	0.0013	M	0.93328	3.405	0.09310	N	1	P	0.51791	0.948	P	0.52343	0.696	T	0.14035	-1.0487	10	0.87932	D	0	.	10.2538	0.43385	0.0:0.0:0.0:1.0	.	177	Q8NGC6	OR4KH_HUMAN	A	205	ENSP00000319197:V205A	ENSP00000319197:V205A	V	+	2	0	OR4K17	19656019	0.011000	0.17503	0.872000	0.34217	0.741000	0.42261	2.019000	0.41001	1.292000	0.44672	0.332000	0.21555	GTA		0.438	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
OR11G2	390439	broad.mit.edu	37	14	20665918	20665918	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20665918T>G	ENST00000357366.3	+	1	424	c.424T>G	c.(424-426)Ttc>Gtc	p.F142V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F142V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTTCTACTTTTTCTTCTCCTT	0.483																																					p.F142V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T424G	14						.						63.0	60.0	61.0					14																	20665918		2203	4300	6503	19735758	SO:0001583	missense	390439	exon1				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.424T>G	14.37:g.20665918T>G	ENSP00000349930:p.Phe142Val		19735758	NM_001005503	Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	t	16.98	3.270750	0.59540	.	.	ENSG00000196832	ENST00000357366	T	0.02258	4.37	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000103	T	0.10852	0.0265	M	0.70903	2.155	0.27059	N	0.963593	D	0.89917	1.0	D	0.72625	0.978	T	0.01413	-1.1361	10	0.52906	T	0.07	.	13.7044	0.62629	0.0:0.0:0.0:1.0	.	142	Q8NGC1	O11G2_HUMAN	V	142	ENSP00000349930:F142V	ENSP00000349930:F142V	F	+	1	0	OR11G2	19735758	0.516000	0.26218	0.999000	0.59377	0.936000	0.57629	1.169000	0.31871	2.073000	0.62155	0.528000	0.53228	TTC		0.483	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
OR11G2	390439	broad.mit.edu	37	14	20666352	20666352	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20666352T>G	ENST00000357366.3	+	1	858	c.858T>G	c.(856-858)gtT>gtG	p.V286V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V286V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGGCTGTGGTTTCACTGTTCT	0.507																																					p.V286V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T858G	14						.						172.0	164.0	167.0					14																	20666352		2203	4300	6503	19736192	SO:0001819	synonymous_variant	390439	exon1				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.858T>G	14.37:g.20666352T>G			19736192	NM_001005503	Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	CCDS32032.1																																																																																				0.507	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
OR11H6	122748	broad.mit.edu	37	14	20692499	20692499	+	Missense_Mutation	SNP	C	C	A	rs146626346		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20692499C>A	ENST00000315519.2	+	1	709	c.631C>A	c.(631-633)Cct>Act	p.P211T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P211T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATCTCTGCTCCTTCCACTGA	0.493																																					p.P211T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631A	14						.						123.0	113.0	117.0					14																	20692499		2203	4300	6503	19762339	SO:0001583	missense	122748	exon1				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.631C>A	14.37:g.20692499C>A	ENSP00000319071:p.Pro211Thr		19762339	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695444	0.48202	.	.	ENSG00000176219	ENST00000315519	T	0.00058	8.79	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.00241	0.0007	N	0.17312	0.475	0.24933	N	0.991905	D	0.71674	0.998	D	0.83275	0.996	T	0.78969	-0.1994	10	0.26408	T	0.33	.	15.8321	0.78760	0.0:1.0:0.0:0.0	.	211	Q8NGC7	O11H6_HUMAN	T	211	ENSP00000319071:P211T	ENSP00000319071:P211T	P	+	1	0	OR11H6	19762339	0.000000	0.05858	0.819000	0.32651	0.962000	0.63368	-0.677000	0.05215	2.592000	0.87571	0.471000	0.43371	CCT		0.493	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
OR11H6	122748	broad.mit.edu	37	14	20692598	20692598	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20692598C>T	ENST00000315519.2	+	1	808	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L244F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CAGAGCTGTGCTTTGTATTCC	0.468																																					p.L244F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	14						.						115.0	100.0	105.0					14																	20692598		2203	4300	6503	19762438	SO:0001583	missense	122748	exon1				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.730C>T	14.37:g.20692598C>T	ENSP00000319071:p.Leu244Phe		19762438	NM_001004480	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566589	0.13560	.	.	ENSG00000176219	ENST00000315519	T	0.00296	8.24	4.78	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.166842	0.28371	N	0.015592	T	0.00241	0.0007	M	0.73430	2.235	0.09310	N	1	B	0.14805	0.011	B	0.26969	0.075	T	0.43988	-0.9357	10	0.49607	T	0.09	.	7.0318	0.24970	0.0:0.4535:0.1135:0.4331	.	244	Q8NGC7	O11H6_HUMAN	F	244	ENSP00000319071:L244F	ENSP00000319071:L244F	L	+	1	0	OR11H6	19762438	0.000000	0.05858	0.257000	0.24404	0.743000	0.42351	-1.425000	0.02446	-0.556000	0.06134	-0.373000	0.07131	CTT		0.468	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1		
TTC5	91875	broad.mit.edu	37	14	20768861	20768861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20768861C>T	ENST00000258821.3	-	3	357	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	101					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E101K(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TCCACCAGCTCGGGCTCCAGC	0.542																																					p.E101K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G301A	14						.						119.0	116.0	117.0					14																	20768861		2203	4300	6503	19838701	SO:0001583	missense	91875	exon3			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.301G>A	14.37:g.20768861C>T	ENSP00000258821:p.Glu101Lys		19838701	NM_138376	A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	7.628	0.678289	0.14841	.	.	ENSG00000136319	ENST00000258821	T	0.59906	0.23	5.16	1.14	0.20703	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.327520	0.35646	N	0.003068	T	0.23492	0.0568	N	0.01705	-0.755	0.27219	N	0.959719	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	10	0.02654	T	1	.	11.0909	0.48115	0.0:0.7727:0.0:0.2273	.	101	Q8N0Z6	TTC5_HUMAN	K	101	ENSP00000258821:E101K	ENSP00000258821:E101K	E	-	1	0	TTC5	19838701	0.744000	0.28250	0.944000	0.38274	0.858000	0.48976	1.221000	0.32503	0.025000	0.15241	-0.940000	0.02684	GAG		0.542	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	
PARP2	10038	broad.mit.edu	37	14	20819270	20819270	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20819270C>A	ENST00000250416.5	+	6	552	c.525C>A	c.(523-525)atC>atA	p.I175I	PARP2_ENST00000527915.1_Silent_p.I175I|PARP2_ENST00000429687.3_Silent_p.I162I	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	175					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I175I(1)|p.I126I(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CCAAGGAAATCTTTCAGAAGA	0.383								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.I162I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C486A	14						.						75.0	68.0	70.0					14																	20819270		1864	4094	5958	19889110	SO:0001819	synonymous_variant	10038	exon6			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.525C>A	14.37:g.20819270C>A			19889110	NM_001042618	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	ENST00000250416.5	37	CCDS41910.1																																																																																				0.383	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2		
PARP2	10038	broad.mit.edu	37	14	20820419	20820419	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20820419G>A	ENST00000250416.5	+	7	579	c.552G>A	c.(550-552)acG>acA	p.T184T	PARP2_ENST00000527915.1_Silent_p.T184T|PARP2_ENST00000429687.3_Silent_p.T171T	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	184					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T135T(1)|p.T184T(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TTGACAAAACGAAAAACAATT	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.T171T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G513A	14						.						104.0	94.0	97.0					14																	20820419		1829	4087	5916	19890259	SO:0001819	synonymous_variant	10038	exon7			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.552G>A	14.37:g.20820419G>A			19890259	NM_001042618	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	ENST00000250416.5	37	CCDS41910.1																																																																																				0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2		
TEP1	7011	broad.mit.edu	37	14	20857405	20857405	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20857405C>T	ENST00000262715.5	-	17	2557	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	TEP1_ENST00000556935.1_Silent_p.A731A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	839					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.A839A(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTTCAGTATCGCATCAGTAC	0.383																																					p.A839A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2517A	14						.						167.0	141.0	150.0					14																	20857405		2203	4300	6503	19927245	SO:0001819	synonymous_variant	7011	exon17				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2517G>A	14.37:g.20857405C>T			19927245	NM_007110	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.383	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
APEX1	328	broad.mit.edu	37	14	20925287	20925287	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20925287C>T	ENST00000216714.3	+	5	845	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	APEX1_ENST00000398030.4_Missense_Mutation_p.R193C|APEX1_ENST00000557054.1_Silent_p.F11F|APEX1_ENST00000557365.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Missense_Mutation_p.R193C|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	193					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.R193C(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGAAGCCTTTCGCAAGTTCCT	0.542								Other BER factors																													p.R193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	14						.						71.0	72.0	72.0					14																	20925287		2203	4300	6503	19995127	SO:0001583	missense	328	exon5			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.577C>T	14.37:g.20925287C>T	ENSP00000216714:p.Arg193Cys		19995127	NM_080648	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410031	0.42715	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.79	3.96	0.45880	Endonuclease/exonuclease/phosphatase (2);	0.107146	0.64402	N	0.000004	T	0.79370	0.4434	M	0.79475	2.455	0.80722	D	1	B	0.17038	0.02	B	0.10450	0.005	T	0.75659	-0.3241	10	0.66056	D	0.02	.	10.2874	0.43575	0.1355:0.7929:0.0:0.0716	.	193	P27695	APEX1_HUMAN	C	193;193;193;193;164	ENSP00000451979:R193C;ENSP00000216714:R193C;ENSP00000451327:R193C;ENSP00000381111:R193C;ENSP00000452460:R164C	ENSP00000216714:R193C	R	+	1	0	APEX1	19995127	1.000000	0.71417	0.888000	0.34837	0.972000	0.66771	3.677000	0.54619	0.775000	0.33450	0.655000	0.94253	CGC		0.542	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
APEX1	328	broad.mit.edu	37	14	20925531	20925531	+	Missense_Mutation	SNP	G	G	A	rs374977590		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:20925531G>A	ENST00000216714.3	+	5	1089	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	APEX1_ENST00000398030.4_Missense_Mutation_p.R274Q|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Missense_Mutation_p.R274Q|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	274					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)	p.R274Q(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ATGAATGCTCGATCCAAGAAT	0.502								Other BER factors																													p.R274Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821A	14						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	252.0	216.0	228.0		821,821,821	5.8	1.0	14		228	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	274/319,274/319,274/319	20925531	1,13005	2203	4300	6503	19995371	SO:0001583	missense	328	exon5			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.821G>A	14.37:g.20925531G>A	ENSP00000216714:p.Arg274Gln		19995371	NM_080648	Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929193	0.92389	0.0	1.16E-4	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000398030;ENST00000557054	T;T;T	0.65916	-0.18;-0.18;-0.18	5.79	5.79	0.91817	Endonuclease/exonuclease/phosphatase (2);	0.057147	0.64402	D	0.000001	D	0.87204	0.6119	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91217	0.5003	10	0.87932	D	0	-0.8645	18.8114	0.92059	0.0:0.0:1.0:0.0	.	274	P27695	APEX1_HUMAN	Q	274;274;274;5	ENSP00000451979:R274Q;ENSP00000216714:R274Q;ENSP00000381111:R274Q	ENSP00000216714:R274Q	R	+	2	0	APEX1	19995371	1.000000	0.71417	0.982000	0.44146	0.938000	0.57974	9.317000	0.96327	2.733000	0.93635	0.655000	0.94253	CGA		0.502	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
RNASE9	390443	broad.mit.edu	37	14	21025021	21025021	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21025021G>T	ENST00000557068.1	-	4	1933	c.208C>A	c.(208-210)Ctt>Att	p.L70I	RNASE9_ENST00000553541.1_Missense_Mutation_p.L70I|RNASE9_ENST00000429244.2_Missense_Mutation_p.L70I|RNASE9_ENST00000554964.1_Missense_Mutation_p.L70I|RNASE9_ENST00000556208.1_Missense_Mutation_p.L75I|RNASE9_ENST00000404716.3_Missense_Mutation_p.L75I|RNASE9_ENST00000557209.1_Missense_Mutation_p.L75I|RNASE9_ENST00000338904.3_Missense_Mutation_p.L70I|RNASE9_ENST00000553706.1_Missense_Mutation_p.L75I|RNASE9_ENST00000555230.1_Missense_Mutation_p.L70I			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	70						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L70I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GGTTCAATAAGGACACGTCTT	0.368																																					p.L70I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C208A	14						.						175.0	175.0	175.0					14																	21025021		2203	4300	6503	20094861	SO:0001583	missense	390443	exon3			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.208C>A	14.37:g.21025021G>T	ENSP00000451565:p.Leu70Ile		20094861	NM_001110357	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.422151	0.01126	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	3.62	-6.29	0.02013	Ribonuclease A, domain (2);	.	.	.	.	T	0.28863	0.0716	L	0.31065	0.9	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.13407	0.005;0.009	T	0.22312	-1.0220	9	0.21540	T	0.41	-11.7085	16.7149	0.85395	0.0:0.0:0.7969:0.2031	.	70;75	P60153;P60153-2	RNAS9_HUMAN;.	I	70;70;70;70;75;75;70;70;75;75	ENSP00000340162:L70I;ENSP00000450599:L70I;ENSP00000450800:L70I;ENSP00000451565:L70I;ENSP00000384683:L75I;ENSP00000451160:L75I;ENSP00000451285:L70I;ENSP00000409504:L70I;ENSP00000450570:L75I;ENSP00000450987:L75I	ENSP00000340162:L70I	L	-	1	0	RNASE9	20094861	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.999000	0.01467	-1.261000	0.02462	-2.838000	0.00105	CTT		0.368	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673	
OR6S1	341799	broad.mit.edu	37	14	21109054	21109054	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21109054G>A	ENST00000320704.3	-	1	796	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ACCACTCTGCGATGGCCGCAC	0.478																																					p.S266L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C797T	14						.						154.0	132.0	139.0					14																	21109054		2203	4300	6503	20178894	SO:0001583	missense	341799	exon1			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.797C>T	14.37:g.21109054G>A	ENSP00000313110:p.Ser266Leu		20178894	NM_001001968	Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407098	0.62399	.	.	ENSG00000181803	ENST00000320704	T	0.00174	8.62	5.7	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000888	T	0.00356	0.0011	L	0.38733	1.17	0.24214	N	0.995463	D	0.76494	0.999	D	0.70935	0.971	T	0.64394	-0.6418	10	0.87932	D	0	-9.7024	13.1874	0.59688	0.0:0.0:0.8399:0.1601	.	266	Q8NH40	OR6S1_HUMAN	L	266	ENSP00000313110:S266L	ENSP00000313110:S266L	S	-	2	0	OR6S1	20178894	0.002000	0.14202	0.998000	0.56505	0.835000	0.47333	0.484000	0.22308	2.671000	0.90904	0.655000	0.94253	TCG		0.478	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1		
RNASE2	6036	broad.mit.edu	37	14	21423967	21423967	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21423967C>T	ENST00000304625.2	+	2	127	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	13					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.L13F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AATTTGTCTGCTTCTTCTGTT	0.458																																					p.L13F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37T	14						.						93.0	100.0	98.0					14																	21423967		2203	4297	6500	20493807	SO:0001583	missense	6036	exon2			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.37C>T	14.37:g.21423967C>T	ENSP00000303276:p.Leu13Phe		20493807	NM_002934	Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451184	0.43531	.	.	ENSG00000169385	ENST00000304625	T	0.12672	2.66	2.78	0.837	0.18896	.	0.353829	0.21922	U	0.067153	T	0.24967	0.0606	M	0.79926	2.475	0.09310	N	1	D	0.64830	0.994	P	0.56343	0.796	T	0.09100	-1.0690	10	0.72032	D	0.01	.	3.1381	0.06446	0.263:0.5873:0.0:0.1497	.	13	P10153	RNAS2_HUMAN	F	13	ENSP00000303276:L13F	ENSP00000303276:L13F	L	+	1	0	RNASE2	20493807	0.000000	0.05858	0.003000	0.11579	0.220000	0.24768	-0.423000	0.07034	0.216000	0.20781	0.455000	0.32223	CTT		0.458	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2		
SLC39A2	29986	broad.mit.edu	37	14	21469640	21469640	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21469640C>A	ENST00000298681.4	+	4	989	c.832C>A	c.(832-834)Ctt>Att	p.L278I	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	278					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.L278I(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CCTAGAAATTCTTCCACGGGA	0.562																																					p.L278I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832A	14						.						86.0	91.0	89.0					14																	21469640		2203	4300	6503	20539480	SO:0001583	missense	29986	exon4			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.832C>A	14.37:g.21469640C>A	ENSP00000298681:p.Leu278Ile		20539480	NM_014579	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890255	0.72524	.	.	ENSG00000165794	ENST00000298681	T	0.60299	0.2	5.8	0.917	0.19380	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	L	0.60845	1.875	0.53005	D	0.999969	D	0.89917	1.0	D	0.87578	0.998	T	0.62044	-0.6937	10	0.46703	T	0.11	-9.5291	8.8383	0.35126	0.0:0.6128:0.0:0.3872	.	278	Q9NP94	S39A2_HUMAN	I	278	ENSP00000298681:L278I	ENSP00000298681:L278I	L	+	1	0	SLC39A2	20539480	0.997000	0.39634	0.978000	0.43139	0.926000	0.56050	1.698000	0.37794	-0.097000	0.12307	-0.136000	0.14681	CTT		0.562	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	
RPGRIP1	57096	broad.mit.edu	37	14	21762904	21762904	+	Nonsense_Mutation	SNP	C	C	T	rs192003551		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21762904C>T	ENST00000400017.2	+	2	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.R52*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.R52*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.R52*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	52					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.R52*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTTCTTTCGACTTCGCGA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17307	0.0		0.0	False		,,,				2504	0.0				p.R52X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C154T	14						.						83.0	83.0	83.0					14																	21762904		1873	4104	5977	20832744	SO:0001587	stop_gained	57096	exon2			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.154C>T	14.37:g.21762904C>T	ENSP00000382895:p.Arg52*		20832744	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.3	4.725168	0.89298	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	.	.	.	4.52	4.52	0.55395	.	0.786157	0.11179	N	0.591127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2507	12.6168	0.56582	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	ENSP00000206660:R52X	R	+	1	2	RPGRIP1	20832744	1.000000	0.71417	0.971000	0.41717	0.738000	0.42128	3.925000	0.56484	2.341000	0.79615	0.561000	0.74099	CGA		0.393	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21785901	21785901	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21785901G>A	ENST00000400017.2	+	10	1198	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E400K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E42K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E373K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E373K	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	400					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E16K(2)|p.E400K(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTGGAGCAACGAGCTCATAGC	0.537																																					p.E400K												.	.	3	Substitution - Missense(3)	large_intestine(2)|prostate(1)	c.G1198A	14						.						26.0	26.0	26.0					14																	21785901		1989	4165	6154	20855741	SO:0001583	missense	57096	exon10			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1198G>A	14.37:g.21785901G>A	ENSP00000382895:p.Glu400Lys		20855741	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	0.242	-1.012795	0.02095	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000557351	T;T;T;T;T	0.76709	-0.16;-1.02;-1.04;-1.04;-0.39	4.64	3.72	0.42706	.	1.273330	0.05041	N	0.476245	T	0.78748	0.4332	L	0.39898	1.24	0.26274	N	0.978377	D;D;P	0.69078	0.997;0.982;0.935	P;B;B	0.58520	0.84;0.407;0.238	T	0.62039	-0.6938	10	0.02654	T	1	-8.5731	10.3292	0.43812	0.0:0.1997:0.8003:0.0	.	42;16;400	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	K	373;373;400;400;42;42	ENSP00000450445:E373K;ENSP00000451219:E373K;ENSP00000382895:E400K;ENSP00000206660:E400K;ENSP00000372391:E42K	ENSP00000206660:E400K	E	+	1	0	RPGRIP1	20855741	0.349000	0.24870	0.250000	0.24296	0.329000	0.28539	1.588000	0.36633	1.117000	0.41842	0.467000	0.42956	GAG		0.537	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21790105	21790105	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21790105G>T	ENST00000400017.2	+	13	1704	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.K568N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.K210N|RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.K541N|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.K541N	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	568					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.K184N(1)|p.K568N(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TAGACCTCAAGAATAACCGTA	0.443																																					p.K568N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1704T	14						.						97.0	93.0	94.0					14																	21790105		1883	4107	5990	20859945	SO:0001583	missense	57096	exon13			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1704G>T	14.37:g.21790105G>T	ENSP00000382895:p.Lys568Asn		20859945	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581308	0.46006	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;D	0.81499	-0.35;-1.15;-1.13;-1.13;-0.71;-1.44;-1.5	4.58	4.58	0.56647	.	0.185606	0.47852	D	0.000201	D	0.87669	0.6235	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.992;0.982;0.994;0.987	D	0.86203	0.1620	10	0.35671	T	0.21	-28.7959	12.3505	0.55144	0.0:0.0:0.8305:0.1695	.	43;210;184;568	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	N	541;541;568;568;210;43;41	ENSP00000450445:K541N;ENSP00000451219:K541N;ENSP00000382895:K568N;ENSP00000206660:K568N;ENSP00000372391:K210N;ENSP00000451262:K43N;ENSP00000450426:K41N	ENSP00000206660:K568N	K	+	3	2	RPGRIP1	20859945	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	1.415000	0.34748	2.538000	0.85594	0.305000	0.20034	AAG		0.443	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21792807	21792807	+	Missense_Mutation	SNP	G	G	A	rs74034910	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21792807G>A	ENST00000400017.2	+	14	1793	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R598Q|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D7N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R560Q|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	598			R -> Q (found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4; dbSNP:rs74034910). {ECO:0000269|PubMed:21224891}.		eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.R598Q(1)|p.R214Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATGGCACCCGACCGTTGTCG	0.478													G|||	73	0.0145767	0.0537	0.0014	5008	,	,		20981	0.001		0.0	False		,,,				2504	0.0				p.R598Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1793A	14						.	G	GLN/ARG	178,3734		3,172,1781	123.0	114.0	117.0		1793	1.3	0.6	14	dbSNP_130	117	2,8280		0,2,4139	yes	missense	RPGRIP1	NM_020366.3	43	3,174,5920	AA,AG,GG		0.0241,4.5501,1.4761	probably-damaging	598/1287	21792807	180,12014	1956	4141	6097	20862647	SO:0001583	missense	57096	exon14			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1793G>A	14.37:g.21792807G>A	ENSP00000382895:p.Arg598Gln		20862647	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	27|27	0.012362637362637362|0.012362637362637362	27|27	0.054878048780487805|0.054878048780487805	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.82|12.82	2.053702|2.053702	0.36277|0.36277	0.045501|0.045501	2.41E-4|2.41E-4	ENSG00000092200|ENSG00000092200	ENST00000307974|ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	T|T;T;T;T;T	0.79352|0.80566	-1.26|-0.87;-0.84;-0.84;-1.2;-1.39	5.5|5.5	1.29|1.29	0.21616|0.21616	.|.	.|0.642064	.|0.15658	.|N	.|0.251023	T|T	0.29749|0.29749	0.0743|0.0743	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B|B;B;B	0.27971|0.33379	0.196|0.36;0.36;0.41	B|B;B;B	0.17098|0.25140	0.017|0.028;0.028;0.058	T|T	0.37753|0.37753	-0.9692|-0.9692	9|10	0.87932|0.36615	D|T	0|0.2	-2.4587|-2.4587	6.0451|6.0451	0.19755|0.19755	0.1575:0.0:0.5655:0.277|0.1575:0.0:0.5655:0.277	.|.	7|73;214;598	Q96KN7-3|G3V3I7;Q96KN7-5;Q96KN7	.|.;.;RPGR1_HUMAN	N|Q	7|560;598;598;73;60	ENSP00000309721:D7N|ENSP00000451219:R560Q;ENSP00000382895:R598Q;ENSP00000206660:R598Q;ENSP00000451262:R73Q;ENSP00000450426:R60Q	ENSP00000309721:D7N|ENSP00000206660:R598Q	D|R	+|+	1|2	0|0	RPGRIP1|RPGRIP1	20862647|20862647	0.003000|0.003000	0.15002|0.15002	0.569000|0.569000	0.28460|0.28460	0.978000|0.978000	0.69477|0.69477	0.398000|0.398000	0.20899|0.20899	0.423000|0.423000	0.26033|0.26033	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.478	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21793997	21793997	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21793997C>T	ENST00000400017.2	+	16	2375	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.S792L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.S151L|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.S754L|RPGRIP1_ENST00000556336.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	792					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.S792L(1)|p.S408L(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTCAGATCGGAGTCTTGG	0.507																																					p.S792L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2375T	14						.						57.0	54.0	55.0					14																	21793997		1997	4164	6161	20863837	SO:0001583	missense	57096	exon16			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2375C>T	14.37:g.21793997C>T	ENSP00000382895:p.Ser792Leu		20863837	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	C	6.932	0.541716	0.13250	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.71	1.78	0.24846	C2 calcium/lipid-binding domain, CaLB (1);	0.715884	0.13693	N	0.369403	T	0.79845	0.4516	M	0.62723	1.935	0.22127	N	0.999345	B;B;B;B;B	0.27068	0.015;0.019;0.048;0.061;0.167	B;B;B;B;B	0.17722	0.009;0.008;0.014;0.019;0.008	T	0.63319	-0.6664	10	0.27785	T	0.31	0.1243	8.8884	0.35418	0.0:0.7131:0.0:0.2869	.	175;151;267;408;792	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	L	754;792;792;267;151	ENSP00000451219:S754L;ENSP00000382895:S792L;ENSP00000206660:S792L;ENSP00000451262:S267L;ENSP00000309721:S151L	ENSP00000206660:S792L	S	+	2	0	RPGRIP1	20863837	0.036000	0.19791	0.031000	0.17742	0.753000	0.42808	0.110000	0.15437	0.030000	0.15379	-0.797000	0.03246	TCG		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
RPGRIP1	57096	broad.mit.edu	37	14	21816377	21816377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21816377G>T	ENST00000400017.2	+	23	3664	c.3664G>T	c.(3664-3666)Gaa>Taa	p.E1222*	RPGRIP1_ENST00000206660.6_Nonsense_Mutation_p.E1222*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E548*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.E581*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E1184*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E879*	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1222	Interaction with RPGR. {ECO:0000269|PubMed:24981858}.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)		p.E838*(1)|p.E1222*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGAAAAGAAAGAATGTGAAGA	0.353																																					p.E1222X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3664T	14						.						118.0	111.0	113.0					14																	21816377		1865	4100	5965	20886217	SO:0001587	stop_gained	57096	exon23			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3664G>T	14.37:g.21816377G>T	ENSP00000382895:p.Glu1222*		20886217	NM_020366	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Nonsense_Mutation	SNP	ENST00000400017.2	37	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119202	0.94385	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	.	.	.	4.69	3.8	0.43715	.	0.138369	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.3668	11.871	0.52520	0.0869:0.0:0.9131:0.0	.	.	.	.	X	879;1184;1222;1222;548;697;581	.	ENSP00000206660:E1222X	E	+	1	0	RPGRIP1	20886217	1.000000	0.71417	0.710000	0.30468	0.002000	0.02628	5.565000	0.67365	1.195000	0.43115	-0.140000	0.14226	GAA		0.353	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366	
SUPT16H	11198	broad.mit.edu	37	14	21820963	21820963	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21820963G>A	ENST00000216297.2	-	26	3351	c.3013C>T	c.(3013-3015)Cgt>Tgt	p.R1005C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1005	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1005C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCCTCGTAACGACTTTCTCGG	0.448																																					p.R1005C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3013T	14						.						146.0	125.0	132.0					14																	21820963		2203	4300	6503	20890803	SO:0001583	missense	11198	exon26			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.3013C>T	14.37:g.21820963G>A	ENSP00000216297:p.Arg1005Cys		20890803	NM_007192	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068494	0.76301	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.09	5.09	0.68999	.	0.268795	0.38217	N	0.001773	T	0.47544	0.1451	L	0.43923	1.385	0.80722	D	1	D	0.64830	0.994	B	0.41299	0.353	T	0.54536	-0.8279	9	0.56958	D	0.05	-7.1424	17.4918	0.87705	0.0:0.0:1.0:0.0	.	1005	Q9Y5B9	SP16H_HUMAN	C	1005	.	ENSP00000216297:R1005C	R	-	1	0	SUPT16H	20890803	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.928000	0.56506	2.663000	0.90544	0.650000	0.86243	CGT		0.448	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2		
CHD8	57680	broad.mit.edu	37	14	21873468	21873468	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21873468G>T	ENST00000557364.1	-	16	3470	c.3207C>A	c.(3205-3207)ttC>ttA	p.F1069L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.F790L|CHD8_ENST00000399982.2_Missense_Mutation_p.F1069L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1069					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.F1069L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAAGGAAGGAGAAATTCTTCT	0.403																																					p.F790L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2370A	14						.						87.0	80.0	82.0					14																	21873468		1855	4101	5956	20943308	SO:0001583	missense	57680	exon16			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3207C>A	14.37:g.21873468G>T	ENSP00000451601:p.Phe1069Leu		20943308	NM_020920	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.87|19.87	3.907681|3.907681	0.72868|0.72868	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.92699|.	-3.09;-3.09;-3.09|.	5.2|5.2	3.35|3.35	0.38373|0.38373	SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42630|0.42630	0.1211|0.1211	N|N	0.25485|0.25485	0.75|0.75	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.996;0.993|.	T|T	0.19516|0.19516	-1.0303|-1.0303	10|5	0.87932|.	D|.	0|.	-15.3028|-15.3028	8.6294|8.6294	0.33911|0.33911	0.2419:0.0:0.7581:0.0|0.2419:0.0:0.7581:0.0	.|.	1069;790|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	L|I	790;1069;789;1069|295	ENSP00000406288:F790L;ENSP00000382863:F1069L;ENSP00000451601:F1069L|.	ENSP00000262707:F789L|.	F|L	-|-	3|1	2|0	CHD8|CHD8	20943308|20943308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.558000|1.558000	0.36309|0.36309	1.436000|1.436000	0.47453|0.47453	0.561000|0.561000	0.74099|0.74099	TTC|CTC		0.403	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
METTL3	56339	broad.mit.edu	37	14	21967202	21967202	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:21967202A>G	ENST00000298717.4	-	10	1749	c.1598T>C	c.(1597-1599)tTa>tCa	p.L533S	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	533					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.L533S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCGTCCAAATAACTCAATCTT	0.423																																					p.L533S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1598C	14						.						174.0	141.0	152.0					14																	21967202		2203	4300	6503	21037042	SO:0001583	missense	56339	exon10			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1598T>C	14.37:g.21967202A>G	ENSP00000298717:p.Leu533Ser		21037042	NM_019852	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685564	0.88639	.	.	ENSG00000165819	ENST00000298717	T	0.61274	0.12	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	D	0.83422	0.5251	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88718	0.3227	10	0.87932	D	0	-5.4217	14.96	0.71151	1.0:0.0:0.0:0.0	.	533	Q86U44	MTA70_HUMAN	S	533	ENSP00000298717:L533S	ENSP00000298717:L533S	L	-	2	0	METTL3	21037042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.653000	0.91088	2.179000	0.69175	0.533000	0.62120	TTA		0.423	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852	
OR10G2	26534	broad.mit.edu	37	14	22102678	22102678	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:22102678A>C	ENST00000542433.1	-	1	418	c.321T>G	c.(319-321)taT>taG	p.Y107*		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y107*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGAAAGAAATACAGTTGAG	0.512																																					p.Y107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T321G	14						.						45.0	46.0	46.0					14																	22102678		2203	4299	6502	21172518	SO:0001587	stop_gained	26534	exon1				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.321T>G	14.37:g.22102678A>C	ENSP00000445383:p.Tyr107*		21172518	NM_001005466	B2RPD0	Nonsense_Mutation	SNP	ENST00000542433.1	37	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969018	0.74131	.	.	ENSG00000255582	ENST00000542433	.	.	.	3.79	1.27	0.21489	.	0.187027	0.26003	N	0.026932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.0478	4.989	0.14205	0.5986:0.0:0.4014:0.0	.	.	.	.	X	107	.	ENSP00000445383:Y107X	Y	-	3	2	OR10G2	21172518	0.000000	0.05858	0.865000	0.33974	0.671000	0.39405	0.029000	0.13666	0.486000	0.27676	0.460000	0.39030	TAT		0.512	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393																																					p.T309T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G927A	14						.						32.0	29.0	30.0					14																	22134223		1917	4141	6058	21204063	SO:0001819	synonymous_variant	26686	exon1				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.927G>A	14.37:g.22134223G>A			21204063	NM_001001912	Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																				0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1		
OXA1L	5018	broad.mit.edu	37	14	23235782	23235782	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23235782C>A	ENST00000285848.5	+	1	52	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_5'Flank|OXA1L_ENST00000604262.1_5'Flank	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.L18I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		GGCCGCCAAGCTCCGTTCTCT	0.502																																					p.L18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52A	14						.						118.0	121.0	120.0					14																	23235782		2203	4300	6503	22305622	SO:0001583	missense	5018	exon1				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.52C>A	14.37:g.23235782C>A	ENSP00000285848:p.Leu18Ile		22305622	NM_005015	B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089881	0.36855	.	.	ENSG00000155463	ENST00000285848	T	0.38077	1.16	5.08	-0.548	0.11833	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	0.999995	B	0.26935	0.164	B	0.16722	0.016	T	0.18713	-1.0328	9	0.87932	D	0	-5.5158	6.6098	0.22745	0.0:0.4075:0.4233:0.1692	.	18	Q2M1J6	.	I	18	ENSP00000285848:L18I	ENSP00000285848:L18I	L	+	1	0	OXA1L	22305622	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-0.440000	0.06888	0.007000	0.14760	0.655000	0.94253	CTC		0.502	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015	
OXA1L	5018	broad.mit.edu	37	14	23237225	23237225	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23237225C>T	ENST00000604262.1	+	3	307	c.284C>T	c.(283-285)gCt>gTt	p.A95V	OXA1L_ENST00000285848.5_Missense_Mutation_p.A155V|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_Missense_Mutation_p.A79V|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_Missense_Mutation_p.A95V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	95					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)	p.A155V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CCTGAGGTGGCTTCTGGAGAG	0.512																																					p.A155V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	14						.						53.0	52.0	52.0					14																	23237225		2203	4300	6503	22307065	SO:0001583	missense	5018	exon3				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.284C>T	14.37:g.23237225C>T	ENSP00000474623:p.Ala95Val		22307065	NM_005015	B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37		.	.	.	.	.	.	.	.	.	.	C	16.94	3.261616	0.59431	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.34472	1.36;1.44;1.39	5.65	3.51	0.40186	.	0.409242	0.28376	N	0.015571	T	0.27134	0.0665	L	0.33753	1.03	0.58432	D	0.999994	P;B;B;B	0.41450	0.75;0.087;0.012;0.087	B;B;B;B	0.38327	0.271;0.03;0.012;0.03	T	0.05937	-1.0855	10	0.41790	T	0.15	-6.7895	12.2102	0.54375	0.0:0.8326:0.0:0.1674	.	95;95;95;155	B4DGZ2;E7EVY0;Q15070;Q2M1J6	.;.;OXA1L_HUMAN;.	V	155;95;79	ENSP00000285848:A155V;ENSP00000387601:A95V;ENSP00000350740:A79V	ENSP00000285848:A155V	A	+	2	0	OXA1L	22307065	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	1.512000	0.35812	1.386000	0.46466	0.655000	0.94253	GCT		0.512	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015	
LRP10	26020	broad.mit.edu	37	14	23346015	23346015	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23346015G>T	ENST00000359591.4	+	6	2233	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.E514D	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	514					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E514D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTCCTACAGAGAATCCTAATG	0.587																																					p.E514D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1542T	14						.						90.0	85.0	86.0					14																	23346015		2203	4300	6503	22415855	SO:0001583	missense	26020	exon6			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1542G>T	14.37:g.23346015G>T	ENSP00000352601:p.Glu514Asp		22415855	NM_014045	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643561|3.643561	0.67244|0.67244	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.94092|.	-3.19;-3.35|.	5.54|5.54	4.64|4.64	0.57946|0.57946	.|.	0.105732|0.105732	0.64402|0.64402	D|D	0.000004|0.000004	T|.	0.62588|.	0.2440|.	L|L	0.50333|0.50333	1.59|1.59	0.42656|0.42656	D|D	0.993469|0.993469	D|.	0.63880|.	0.993|.	P|.	0.57548|.	0.823|.	T|.	0.62737|.	-0.6791|.	10|.	0.33940|0.46703	T|T	0.23|0.11	-20.6302|-20.6302	12.7364|12.7364	0.57228|0.57228	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	514|.	Q7Z4F1|.	LRP10_HUMAN|.	D|X	514|416	ENSP00000352601:E514D;ENSP00000447559:E514D|.	ENSP00000352601:E514D|ENSP00000447977:E416X	E|E	+|+	3|1	2|0	LRP10|LRP10	22415855|22415855	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	0.381000|0.381000	0.20619|0.20619	2.628000|2.628000	0.89032|0.89032	0.563000|0.563000	0.77884|0.77884	GAG|GAA		0.587	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		
LRP10	26020	broad.mit.edu	37	14	23346371	23346371	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23346371G>T	ENST00000359591.4	+	7	2468	c.1777G>T	c.(1777-1779)Gat>Tat	p.D593Y	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	593					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D593Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGAGGCCCTAGATGGTGGCAC	0.677																																					p.D593Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1777T	14						.						33.0	40.0	37.0					14																	23346371		2200	4295	6495	22416211	SO:0001583	missense	26020	exon7			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1777G>T	14.37:g.23346371G>T	ENSP00000352601:p.Asp593Tyr		22416211	NM_014045	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167431	0.38315	.	.	ENSG00000197324	ENST00000359591	D	0.93076	-3.16	4.9	4.9	0.64082	.	0.420579	0.27249	N	0.020239	D	0.89266	0.6666	L	0.36672	1.1	0.80722	D	1	P	0.44090	0.826	B	0.37833	0.259	D	0.90827	0.4713	10	0.72032	D	0.01	-8.0927	15.4503	0.75268	0.0:0.0:1.0:0.0	.	593	Q7Z4F1	LRP10_HUMAN	Y	593	ENSP00000352601:D593Y	ENSP00000352601:D593Y	D	+	1	0	LRP10	22416211	1.000000	0.71417	0.351000	0.25721	0.040000	0.13550	6.644000	0.74338	2.710000	0.92621	0.462000	0.41574	GAT		0.677	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3		
CEBPE	1053	broad.mit.edu	37	14	23588016	23588016	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23588016G>A	ENST00000206513.5	-	1	809	c.285C>T	c.(283-285)ttC>ttT	p.F95F		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	95					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F95F(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGTCTGGGCCGAAGGTATGTG	0.697																																					p.F95F	NSCLC(63;1230 1818 14565 22565)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285T	14						.						25.0	26.0	25.0					14																	23588016		2203	4300	6503	22657856	SO:0001819	synonymous_variant	1053	exon1				CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.285C>T	14.37:g.23588016G>A			22657856	NM_001805	Q15745|Q8IYI2|Q99803	Silent	SNP	ENST00000206513.5	37	CCDS9589.1																																																																																				0.697	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805	
SLC7A8	23428	broad.mit.edu	37	14	23635555	23635555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23635555C>A	ENST00000316902.7	-	2	1071	c.346G>T	c.(346-348)Gga>Tga	p.G116*	SLC7A8_ENST00000469263.1_Nonsense_Mutation_p.G116*	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	116					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.G116*(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCAGCCAGTCCTCCGAAGATG	0.532																																					p.G116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G346T	14						.						115.0	116.0	116.0					14																	23635555		2203	4300	6503	22705395	SO:0001587	stop_gained	23428	exon2			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.346G>T	14.37:g.23635555C>A	ENSP00000320378:p.Gly116*		22705395	NM_012244	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Nonsense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	C	43	10.306840	0.99380	.	.	ENSG00000092068	ENST00000316902;ENST00000469263	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.5137	0.90928	0.0:1.0:0.0:0.0	.	.	.	.	X	116	.	ENSP00000320378:G116X	G	-	1	0	SLC7A8	22705395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.733000	0.93635	0.655000	0.94253	GGA		0.532	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		
MYH6	4624	broad.mit.edu	37	14	23851691	23851691	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23851691G>A	ENST00000356287.3	-	37	5771	c.5742C>T	c.(5740-5742)atC>atT	p.I1914I	MYH6_ENST00000405093.3_Silent_p.I1914I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1914					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.I1914I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGGACTCAGCGATGTCCGCCC	0.592																																					p.I1914I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5742T	14						.						180.0	158.0	165.0					14																	23851691		2203	4300	6503	22921531	SO:0001819	synonymous_variant	4624	exon38			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5742C>T	14.37:g.23851691G>A			22921531	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																				0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23858216	23858216	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23858216C>T	ENST00000356287.3	-	28	4056	c.4027G>A	c.(4027-4029)Gac>Aac	p.D1343N	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.D1343N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1343					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.D1343N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGCAGCAGGTCGCAGTCATGC	0.687																																					p.D1343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4027A	14						.						45.0	41.0	43.0					14																	23858216		2203	4300	6503	22928056	SO:0001583	missense	4624	exon29			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4027G>A	14.37:g.23858216C>T	ENSP00000348634:p.Asp1343Asn		22928056	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	N	34	5.410519	0.96072	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82167	-1.58;-1.58	4.74	4.74	0.60224	Myosin tail (1);	.	.	.	.	D	0.91549	0.7331	M	0.85462	2.755	0.58432	D	0.999998	D	0.71674	0.998	D	0.65874	0.939	D	0.93137	0.6538	9	0.87932	D	0	.	18.113	0.89541	0.0:1.0:0.0:0.0	.	1343	P13533	MYH6_HUMAN	N	1343	ENSP00000386041:D1343N;ENSP00000348634:D1343N	ENSP00000348634:D1343N	D	-	1	0	MYH6	22928056	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.631000	0.83237	2.336000	0.79503	0.650000	0.86243	GAC		0.687	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH6	4624	broad.mit.edu	37	14	23865510	23865510	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23865510C>A	ENST00000356287.3	-	19	2441	c.2412G>T	c.(2410-2412)aaG>aaT	p.K804N	MYH6_ENST00000405093.3_Missense_Mutation_p.K804N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	804	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.K804N(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCACTATCTTCTTGAACTCAA	0.572																																					p.K804N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2412T	14						.						112.0	100.0	104.0					14																	23865510		2203	4300	6503	22935350	SO:0001583	missense	4624	exon20			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2412G>T	14.37:g.23865510C>A	ENSP00000348634:p.Lys804Asn		22935350	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	8.817	0.936622	0.18206	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92299	-3.01;-3.01	4.78	2.91	0.33838	.	.	.	.	.	D	0.89979	0.6872	M	0.72894	2.215	0.46542	D	0.999098	B	0.02656	0.0	B	0.06405	0.002	D	0.87473	0.2415	9	0.52906	T	0.07	.	10.529	0.44965	0.0:0.7862:0.0:0.2138	.	804	P13533	MYH6_HUMAN	N	804	ENSP00000386041:K804N;ENSP00000348634:K804N	ENSP00000348634:K804N	K	-	3	2	MYH6	22935350	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	1.114000	0.31196	1.159000	0.42565	0.650000	0.86243	AAG		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
MYH7	4625	broad.mit.edu	37	14	23885450	23885450	+	Silent	SNP	G	G	A	rs7140196	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23885450G>A	ENST00000355349.3	-	34	4878	c.4716C>T	c.(4714-4716)atC>atT	p.I1572I	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1572					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.I1572I(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTTCCGCTCGATCTCTGCCT	0.642													G|||	91	0.0181709	0.0666	0.0043	5008	,	,		16712	0.0		0.0	False		,,,				2504	0.0				p.I1572I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4716T	14						.	G		225,4181	134.5+/-170.7	6,213,1984	139.0	136.0	137.0		4716	-6.6	0.8	14	dbSNP_116	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH7	NM_000257.2		6,214,6283	AA,AG,GG		0.0116,5.1067,1.7377		1572/1936	23885450	226,12780	2203	4300	6503	22955290	SO:0001819	synonymous_variant	4625	exon34			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4716C>T	14.37:g.23885450G>A			22955290	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23886416	23886416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23886416C>A	ENST00000355349.3	-	32	4627	c.4465G>T	c.(4465-4467)Gag>Tag	p.E1489*	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1489					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.E1489*(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGACTCCTCATAGGCGTTC	0.592																																					p.E1489X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4465T	14						.						121.0	127.0	125.0					14																	23886416		2203	4300	6503	22956256	SO:0001587	stop_gained	4625	exon32			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4465G>T	14.37:g.23886416C>A	ENSP00000347507:p.Glu1489*		22956256	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	45	12.045298	0.99630	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0892	0.93219	0.0:1.0:0.0:0.0	.	.	.	.	X	1489;1494	.	ENSP00000347507:E1489X	E	-	1	0	MYH7	22956256	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	7.359000	0.79477	2.746000	0.94184	0.591000	0.81541	GAG		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23902386	23902386	+	Silent	SNP	G	G	A	rs267603955		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23902386G>A	ENST00000355349.3	-	4	414	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	84					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.F84F(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGATTTTGTCGAACTTGGGTG	0.587																																					p.F84F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	14						.						274.0	197.0	223.0					14																	23902386		2203	4300	6503	22972226	SO:0001819	synonymous_variant	4625	exon4			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.252C>T	14.37:g.23902386G>A			22972226	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23902931	23902931	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23902931G>A	ENST00000355349.3	-	3	173	c.11C>T	c.(10-12)tCg>tTg	p.S4L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	4					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S4L(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCATCTCCGAATCTCCCAT	0.617																																					p.S4L												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C11T	14						.						44.0	45.0	45.0					14																	23902931		2203	4300	6503	22972771	SO:0001583	missense	4625	exon3			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.11C>T	14.37:g.23902931G>A	ENSP00000347507:p.Ser4Leu		22972771	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979492	0.34942	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85484	-1.99	4.11	4.11	0.48088	.	.	.	.	.	T	0.72203	0.3431	N	0.04508	-0.205	0.40138	D	0.976799	B	0.21520	0.057	B	0.23018	0.043	T	0.71276	-0.4641	9	0.54805	T	0.06	.	16.305	0.82844	0.0:0.0:1.0:0.0	.	4	P12883	MYH7_HUMAN	L	4	ENSP00000347507:S4L	ENSP00000347507:S4L	S	-	2	0	MYH7	22972771	0.984000	0.35163	0.333000	0.25482	0.072000	0.16883	5.804000	0.69135	1.988000	0.58038	0.555000	0.69702	TCG		0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
AP1G2	8906	broad.mit.edu	37	14	24033579	24033579	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24033579G>T	ENST00000308724.5	-	9	1695	c.940C>A	c.(940-942)Ctt>Att	p.L314I	AP1G2_ENST00000397120.3_Missense_Mutation_p.L314I|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	314					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.L314I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AAGCGACCAAGAATGTTGACA	0.527																																					p.L314I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940A	14						.						145.0	118.0	127.0					14																	24033579		2203	4300	6503	23103419	SO:0001583	missense	8906	exon10			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.940C>A	14.37:g.24033579G>T	ENSP00000312442:p.Leu314Ile		23103419	NM_003917	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718295	0.68844	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.60548	0.18;0.18	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.74839	0.3769	M	0.85373	2.75	0.49299	D	0.999772	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.996	T	0.77792	-0.2455	10	0.87932	D	0	-8.6008	8.1372	0.31061	0.1069:0.0:0.8931:0.0	.	314;169	O75843;Q86V28	AP1G2_HUMAN;.	I	314;314;83;169	ENSP00000312442:L314I;ENSP00000380309:L314I	ENSP00000312442:L314I	L	-	1	0	AP1G2	23103419	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.789000	0.55454	2.269000	0.75478	0.557000	0.71058	CTT		0.527	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
AP1G2	8906	broad.mit.edu	37	14	24033844	24033844	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24033844C>T	ENST00000308724.5	-	8	1603	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	AP1G2_ENST00000397120.3_Missense_Mutation_p.R283Q|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	283					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R283L(1)|p.R283Q(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCCGGCATTTCGGCTGGTGTC	0.532																																					p.R283Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G848A	14						.						120.0	88.0	99.0					14																	24033844		2203	4300	6503	23103684	SO:0001583	missense	8906	exon9			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.848G>A	14.37:g.24033844C>T	ENSP00000312442:p.Arg283Gln		23103684	NM_003917	D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950368	0.53186	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000535852	T;T	0.11930	2.73;2.73	3.98	3.09	0.35607	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.483516	0.20578	N	0.089586	T	0.12902	0.0313	L	0.45352	1.415	0.34864	D	0.742873	P;P	0.40250	0.478;0.709	B;B	0.41917	0.263;0.37	T	0.16808	-1.0390	10	0.72032	D	0.01	0.0	6.0621	0.19844	0.0:0.7694:0.0:0.2306	.	283;138	O75843;Q86V28	AP1G2_HUMAN;.	Q	283;283;138	ENSP00000312442:R283Q;ENSP00000380309:R283Q	ENSP00000312442:R283Q	R	-	2	0	AP1G2	23103684	0.998000	0.40836	0.997000	0.53966	0.437000	0.31866	2.709000	0.47160	0.880000	0.35969	0.313000	0.20887	CGA		0.532	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	
DHRS2	10202	broad.mit.edu	37	14	24113359	24113359	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24113359T>C	ENST00000250383.6	+	6	1004	c.528T>C	c.(526-528)taT>taC	p.Y176Y	DHRS2_ENST00000344777.7_Silent_p.Y176Y	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	176					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.Y176Y(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TTGCAGCTTATAATCCAGTAG	0.478																																					p.Y176Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T528C	14						.						261.0	217.0	232.0					14																	24113359		2203	4300	6503	23183199	SO:0001819	synonymous_variant	10202	exon6				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.528T>C	14.37:g.24113359T>C			23183199	NM_005794	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	T	2.207	-0.381495	0.05000	.	.	ENSG00000100867	ENST00000557535	.	.	.	5.14	0.163	0.14986	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6811	0.28513	0.0:0.5132:0.0:0.4868	.	.	.	.	Q	92	.	.	X	+	1	0	DHRS2	23183199	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.973000	0.03798	-0.113000	0.11958	0.533000	0.62120	TAA		0.478	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
LRRC16B	90668	broad.mit.edu	37	14	24534944	24534944	+	Silent	SNP	C	C	T	rs370965600		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24534944C>T	ENST00000342740.5	+	34	3664	c.3510C>T	c.(3508-3510)ttC>ttT	p.F1170F	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1170						cytoplasm (GO:0005737)		p.F1170F(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTTGGAGCTTCGATGGGAAAC	0.627																																					p.F1170F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3510T	14						.	C		0,4406		0,0,2203	123.0	104.0	111.0		3510	2.1	1.0	14		111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRRC16B	NM_138360.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1170/1373	24534944	2,13004	2203	4300	6503	23604784	SO:0001819	synonymous_variant	90668	exon34			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3510C>T	14.37:g.24534944C>T			23604784	NM_138360	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																				0.627	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
DCAF11	80344	broad.mit.edu	37	14	24592285	24592285	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24592285C>T	ENST00000446197.3	+	14	2232	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	DCAF11_ENST00000396936.1_Splice_Site_p.S402L|DCAF11_ENST00000559115.1_Splice_Site_p.S502L|DCAF11_ENST00000396941.4_Splice_Site_p.S476L|RP11-468E2.6_ENST00000558325.1_Splice_Site_p.F91F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	502					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.S502L(1)									GTCAGCAGTTCGGTGAGGTTG	0.572																																					p.S502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	14						.						140.0	118.0	125.0					14																	24592285		2203	4300	6503	23662125	SO:0001630	splice_region_variant	80344	exon14			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1506+1C>T	14.37:g.24592285C>T			23662125	NM_001163484	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.092934	0.94149	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.74421	-0.84;-0.84	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91395	0.7285	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.988;0.999;1.0;0.996	P;P;D;D;P	0.78314	0.889;0.592;0.937;0.991;0.788	D	0.94078	0.7341	10	0.87932	D	0	-6.6235	16.5604	0.84551	0.0:1.0:0.0:0.0	.	425;476;402;502;502	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	L	502;476;402;476	ENSP00000380142:S402L;ENSP00000380146:S476L	ENSP00000323680:S502L	S	+	2	0	DCAF11	23662125	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.737000	0.74816	2.778000	0.95560	0.655000	0.94253	TCG		0.572	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		Missense_Mutation
RNF31	55072	broad.mit.edu	37	14	24626832	24626832	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24626832C>A	ENST00000324103.6	+	16	3032	c.2712C>A	c.(2710-2712)gcC>gcA	p.A904A	RNF31_ENST00000559275.1_Silent_p.A753A|RP11-468E2.4_ENST00000558468.1_Silent_p.A379A|RNA5SP383_ENST00000362934.1_RNA|RNF31_ENST00000382687.3_Silent_p.A753A	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	904					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A904A(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTACAATGCCTTTTACGCCA	0.592																																					p.A904A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2712A	14						.						104.0	112.0	109.0					14																	24626832		2027	4183	6210	23696672	SO:0001819	synonymous_variant	55072	exon16			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2712C>A	14.37:g.24626832C>A			23696672	NM_017999	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	ENST00000324103.6	37	CCDS41931.1																																																																																				0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
CIDEB	27141	broad.mit.edu	37	14	24776619	24776619	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24776619C>T	ENST00000336557.5	-	5	1446	c.144G>A	c.(142-144)cgG>cgA	p.R48R	CIDEB_ENST00000554411.1_Silent_p.R48R|LTB4R2_ENST00000533293.1_5'Flank|CIDEB_ENST00000258807.5_Silent_p.R48R|LTB4R2_ENST00000528054.1_5'Flank|LTB4R2_ENST00000543919.1_5'Flank|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	48	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)	p.R48R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TCAGGCCTTTCCGGATGGTCC	0.572																																					p.R48R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G144A	14						.						78.0	77.0	78.0					14																	24776619		2203	4300	6503	23846459	SO:0001819	synonymous_variant	27141	exon4			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.144G>A	14.37:g.24776619C>T			23846459	NM_014430	D3DS73|Q546V8|Q9NNW9	Silent	SNP	ENST00000336557.5	37	CCDS32056.1																																																																																				0.572	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1		
LTB4R	1241	broad.mit.edu	37	14	24785425	24785425	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24785425T>G	ENST00000396789.4	+	2	2293	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	LTB4R_ENST00000396782.2_Missense_Mutation_p.F190V|LTB4R_ENST00000345363.3_Missense_Mutation_p.F190V	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	190					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)	p.F190V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGTCACGGGCTTCCTGCTGCC	0.667																																					p.F190V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T568G	14						.						47.0	49.0	48.0					14																	24785425		2203	4300	6503	23855265	SO:0001583	missense	1241	exon2			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.568T>G	14.37:g.24785425T>G	ENSP00000380008:p.Phe190Val		23855265	NM_181657	Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	32	5.191406	0.94923	.	.	ENSG00000213903	ENST00000345363;ENST00000396789;ENST00000556141;ENST00000396782	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.128895	0.51477	U	0.000086	D	0.89598	0.6761	M	0.90309	3.105	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.91482	0.5205	10	0.72032	D	0.01	.	13.9798	0.64297	0.0:0.0:0.0:1.0	.	190	Q15722	LT4R1_HUMAN	V	190;190;90;190	ENSP00000307445:F190V;ENSP00000380008:F190V;ENSP00000451929:F90V;ENSP00000380002:F190V	ENSP00000307445:F190V	F	+	1	0	LTB4R	23855265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.065000	0.64344	2.187000	0.69744	0.533000	0.62120	TTC		0.667	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4		
RIPK3	11035	broad.mit.edu	37	14	24807498	24807498	+	Silent	SNP	G	G	A	rs373410782		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24807498G>A	ENST00000216274.5	-	5	839	c.621C>T	c.(619-621)ttC>ttT	p.F207F	RP11-934B9.3_ENST00000555591.1_5'Flank|RIPK3_ENST00000554338.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.F207F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTAGGATCCCGAAGCTGCAGG	0.522																																					p.F207F	Pancreas(58;918 1191 4668 13304 15331)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	14						.	G		0,4406		0,0,2203	96.0	99.0	98.0		621	-6.9	1.0	14		98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIPK3	NM_006871.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		207/519	24807498	1,13005	2203	4300	6503	23877338	SO:0001819	synonymous_variant	11035	exon5			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.621C>T	14.37:g.24807498G>A			23877338	NM_006871	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	CCDS9628.1																																																																																				0.522	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	
NYNRIN	57523	broad.mit.edu	37	14	24878408	24878408	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24878408G>T	ENST00000382554.3	+	4	1726	c.1408G>T	c.(1408-1410)Gac>Tac	p.D470Y		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	470					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.D470Y(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATGTAAAAGACAAAGTTAG	0.547																																					p.D470Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408T	14						.						35.0	36.0	36.0					14																	24878408		1905	4107	6012	23948248	SO:0001583	missense	57523	exon4			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1408G>T	14.37:g.24878408G>T	ENSP00000371994:p.Asp470Tyr		23948248	NM_025081	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318738	0.41096	.	.	ENSG00000205978	ENST00000382554	T	0.12039	2.72	4.79	2.92	0.33932	.	1.316840	0.05341	N	0.530084	T	0.09862	0.0242	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.34138	0.176	T	0.28618	-1.0038	10	0.87932	D	0	.	6.7668	0.23571	0.0937:0.1773:0.729:0.0	.	470	Q9P2P1	NYNRI_HUMAN	Y	470	ENSP00000371994:D470Y	ENSP00000371994:D470Y	D	+	1	0	NYNRIN	23948248	0.996000	0.38824	0.019000	0.16419	0.018000	0.09664	3.817000	0.55668	0.910000	0.36722	0.655000	0.94253	GAC		0.547	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
NYNRIN	57523	broad.mit.edu	37	14	24886145	24886145	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:24886145C>A	ENST00000382554.3	+	9	5508	c.5190C>A	c.(5188-5190)atC>atA	p.I1730I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1730	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.I1730I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGGAGTTCATCTTCCTGCATG	0.637																																					p.I1730I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5190A	14						.						17.0	20.0	19.0					14																	24886145		1993	4157	6150	23955985	SO:0001819	synonymous_variant	57523	exon9			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5190C>A	14.37:g.24886145C>A			23955985	NM_025081	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	CCDS45090.1																																																																																				0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
STXBP6	29091	broad.mit.edu	37	14	25326292	25326292	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:25326292G>A	ENST00000323944.5	-	3	677	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	STXBP6_ENST00000546511.1_Missense_Mutation_p.R76W|STXBP6_ENST00000548724.1_Missense_Mutation_p.R76W|STXBP6_ENST00000419632.2_Missense_Mutation_p.R76W|STXBP6_ENST00000358326.2_Missense_Mutation_p.R76W|STXBP6_ENST00000550887.1_Missense_Mutation_p.R76W|STXBP6_ENST00000396700.1_Missense_Mutation_p.R76W			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.R76W(1)		central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGTGATCTCCGAACAAATGAT	0.458																																					p.R76W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	14						.						237.0	210.0	219.0					14																	25326292		2203	4300	6503	24396132	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.226C>T	14.37:g.25326292G>A	ENSP00000324302:p.Arg76Trp		24396132	NM_014178	D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483334	0.84854	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.84	3.84	0.44239	.	0.100496	0.64402	D	0.000003	T	0.60907	0.2305	L	0.59436	1.845	0.58432	D	0.999996	D	0.69078	0.997	P	0.50617	0.646	T	0.65721	-0.6099	9	0.87932	D	0	-23.6575	12.2439	0.54560	0.0:0.0:0.705:0.295	.	76	Q8NFX7	STXB6_HUMAN	W	76	.	ENSP00000324302:R76W	R	-	1	2	STXBP6	24396132	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.721000	0.54941	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		
NOVA1	4857	broad.mit.edu	37	14	26941547	26941547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:26941547C>A	ENST00000344429.5	-	4	501	c.498G>T	c.(496-498)atG>atT	p.M166I	NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000267422.7_Missense_Mutation_p.M44I|NOVA1_ENST00000547619.1_Missense_Mutation_p.M166I|NOVA1_ENST00000539517.2_Missense_Mutation_p.M166I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	169					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M166I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGAGGTGGTCATGGGATCAG	0.453																																					p.M166I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	14						.						223.0	184.0	197.0					14																	26941547		2203	4300	6503	26011387	SO:0001583	missense	4857	exon4			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.498G>T	14.37:g.26941547C>A	ENSP00000342387:p.Met166Ile		26011387	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677498	0.29783	.	.	ENSG00000139910	ENST00000539517;ENST00000267422;ENST00000449198;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.97;0.86;0.8	5.92	5.92	0.95590	.	0.412688	0.23191	N	0.050920	T	0.47002	0.1422	N	0.08118	0	0.58432	D	0.99999	B;B;B	0.20780	0.048;0.01;0.025	B;B;B	0.16289	0.015;0.001;0.004	T	0.35325	-0.9793	10	0.41790	T	0.15	-24.0609	20.3343	0.98733	0.0:1.0:0.0:0.0	.	166;169;166	P51513-2;P51513;P51513-4	.;NOVA1_HUMAN;.	I	166;44;125;44;129;166;166	ENSP00000438875:M166I;ENSP00000267422:M44I;ENSP00000408914:M125I;ENSP00000449113:M44I;ENSP00000449185:M129I;ENSP00000342387:M166I;ENSP00000448157:M166I	ENSP00000267422:M44I	M	-	3	0	NOVA1	26011387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.822000	0.97130	0.650000	0.86243	ATG		0.453	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
NOVA1	4857	broad.mit.edu	37	14	27064620	27064620	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:27064620G>A	ENST00000344429.5	-	2	279	c.276C>T	c.(274-276)taC>taT	p.Y92Y	NOVA1_ENST00000465357.2_Silent_p.Y92Y|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000551754.1_5'UTR|NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000547619.1_Silent_p.Y92Y|NOVA1_ENST00000574031.1_Silent_p.Y92Y|NOVA1_ENST00000539517.2_Silent_p.Y92Y	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	95	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y92Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACCTACCTGGGTAAAAATCTT	0.408																																					p.Y92Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276T	14						.						166.0	157.0	160.0					14																	27064620		2203	4300	6503	26134460	SO:0001819	synonymous_variant	4857	exon2			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.276C>T	14.37:g.27064620G>A			26134460	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	CCDS9635.1																																																																																				0.408	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
FOXG1	2290	broad.mit.edu	37	14	29237110	29237110	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:29237110G>A	ENST00000313071.4	+	1	824	c.625G>A	c.(625-627)Gag>Aag	p.E209K	RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.E209K|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	209					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E209K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CGGCATCTACGAGTTCATCAT	0.562																																					p.E209K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	14						.						56.0	53.0	54.0					14																	29237110		2203	4300	6503	28306861	SO:0001583	missense	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.625G>A	14.37:g.29237110G>A	ENSP00000339004:p.Glu209Lys		28306861	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524740	0.85600	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95307	-3.67;-3.67	3.69	2.79	0.32731	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.92596	0.7648	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91609	0.5301	10	0.56958	D	0.05	.	10.6273	0.45514	0.0991:0.0:0.9009:0.0	.	209	P55316	FOXG1_HUMAN	K	209	ENSP00000371975:E209K;ENSP00000339004:E209K	ENSP00000339004:E209K	E	+	1	0	FOXG1	28306861	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	6.596000	0.74113	0.527000	0.28560	0.306000	0.20318	GAG		0.562	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
FOXG1	2290	broad.mit.edu	37	14	29237855	29237855	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:29237855G>T	ENST00000313071.4	+	1	1569	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	FOXG1_ENST00000382535.3_Missense_Mutation_p.R457I	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	457					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R457I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GAGTCTTTAAGACCCTCTTTG	0.547																																					p.R457I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1370T	14						.						76.0	75.0	76.0					14																	29237855		2203	4300	6503	28307606	SO:0001583	missense	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1370G>T	14.37:g.29237855G>T	ENSP00000339004:p.Arg457Ile		28307606	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028514	0.75390	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94758	-3.51;-3.51	4.14	4.14	0.48551	.	0.326841	0.28577	U	0.014853	D	0.94883	0.8346	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.95546	0.8616	10	0.54805	T	0.06	.	16.7792	0.85559	0.0:0.0:1.0:0.0	.	457	P55316	FOXG1_HUMAN	I	457	ENSP00000371975:R457I;ENSP00000339004:R457I	ENSP00000339004:R457I	R	+	2	0	FOXG1	28307606	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.220000	0.95180	2.006000	0.58801	0.491000	0.48974	AGA		0.547	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
PRKD1	5587	broad.mit.edu	37	14	30066843	30066843	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:30066843G>T	ENST00000331968.5	-	16	2517	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	PRKD1_ENST00000415220.2_Missense_Mutation_p.S771Y	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S763Y(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATGTCTAGAGAGCGATTGTA	0.493																																					p.S763Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2288A	14						.						145.0	136.0	139.0					14																	30066843		2203	4300	6503	29136594	SO:0001583	missense	5587	exon16				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2288C>A	14.37:g.30066843G>T	ENSP00000333568:p.Ser763Tyr		29136594	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300251	0.81136	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.83506	-1.73;-1.73	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.90708	0.4625	10	0.87932	D	0	-13.2176	20.2504	0.98404	0.0:0.0:1.0:0.0	.	763	Q15139	KPCD1_HUMAN	Y	763;771	ENSP00000333568:S763Y;ENSP00000390535:S771Y	ENSP00000333568:S763Y	S	-	2	0	PRKD1	29136594	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.813000	0.99286	2.850000	0.98022	0.650000	0.86243	TCT		0.493	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
PRKD1	5587	broad.mit.edu	37	14	30103685	30103685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:30103685C>A	ENST00000331968.5	-	8	1482	c.1253G>T	c.(1252-1254)aGg>aTg	p.R418M	PRKD1_ENST00000415220.2_Missense_Mutation_p.R426M|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	418					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R418K(2)|p.R418M(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCTGCTTTTCCTCTTCGTGTG	0.443																																					p.R418M												.	.	4	Substitution - Missense(4)	large_intestine(2)|NS(2)	c.G1253T	14						.						490.0	358.0	403.0					14																	30103685		2203	4300	6503	29173436	SO:0001583	missense	5587	exon8				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1253G>T	14.37:g.30103685C>A	ENSP00000333568:p.Arg418Met		29173436	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189632	0.94923	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.70631	-0.5;-0.48	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.86522	0.1816	10	0.87932	D	0	-21.3639	20.5407	0.99260	0.0:1.0:0.0:0.0	.	418	Q15139	KPCD1_HUMAN	M	418;426	ENSP00000333568:R418M;ENSP00000390535:R426M	ENSP00000333568:R418M	R	-	2	0	PRKD1	29173436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.710000	0.84655	2.865000	0.98341	0.655000	0.94253	AGG		0.443	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
G2E3	55632	broad.mit.edu	37	14	31062822	31062822	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31062822T>C	ENST00000206595.6	+	6	659	c.505T>C	c.(505-507)Tgg>Cgg	p.W169R	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.W199R|G2E3_ENST00000438909.2_Missense_Mutation_p.W123R	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	169					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W169R(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TAAGAACGCTTGGTTTCATAG	0.303																																					p.W169R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T505C	14						.						65.0	66.0	66.0					14																	31062822		2202	4299	6501	30132573	SO:0001583	missense	55632	exon6			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.505T>C	14.37:g.31062822T>C	ENSP00000206595:p.Trp169Arg		30132573	NM_017769	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278674	0.80692	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504;ENST00000547532;ENST00000552515	T;T;T;T	0.78595	-0.52;-0.52;-0.52;-1.19	5.17	5.17	0.71159	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.91311	0.5074	10	0.87932	D	0	-7.9491	15.3058	0.73990	0.0:0.0:0.0:1.0	.	123;169	B4DIF9;Q7L622	.;G2E3_HUMAN	R	169;123;199;169;9	ENSP00000206595:W169R;ENSP00000391068:W123R;ENSP00000451653:W199R;ENSP00000446615:W169R	ENSP00000206595:W169R	W	+	1	0	G2E3	30132573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.835000	0.75344	2.078000	0.62432	0.477000	0.44152	TGG		0.303	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	
COCH	1690	broad.mit.edu	37	14	31349680	31349680	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31349680C>T	ENST00000396618.3	+	7	515	c.459C>T	c.(457-459)ccC>ccT	p.P153P	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_Silent_p.P41P|COCH_ENST00000216361.4_Silent_p.P153P|COCH_ENST00000382493.4_5'Flank|COCH_ENST00000475087.1_Silent_p.P153P	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	153					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.P153P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGAAAACACCCGAGAAGAAAA	0.418																																					p.P153P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	14						.						136.0	138.0	137.0					14																	31349680		2203	4300	6503	30419431	SO:0001819	synonymous_variant	1690	exon7				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.459C>T	14.37:g.31349680C>T			30419431	NM_004086	A8K9K9|D3DS84|Q96IU6	Silent	SNP	ENST00000396618.3	37	CCDS9640.1																																																																																				0.418	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	
HECTD1	25831	broad.mit.edu	37	14	31598438	31598438	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31598438C>A	ENST00000399332.1	-	25	4627	c.4139G>T	c.(4138-4140)aGt>aTt	p.S1380I	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1380I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1380	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.S1380I(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCCTTTTCTACTTGAGGAGCC	0.483																																					p.S1380I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4139T	14						.						151.0	149.0	149.0					14																	31598438		2013	4188	6201	30668189	SO:0001583	missense	25831	exon25			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4139G>T	14.37:g.31598438C>A	ENSP00000382269:p.Ser1380Ile		30668189	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885989	0.72410	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.49139	0.79;0.79;1.31	5.73	5.73	0.89815	.	0.000000	0.85682	U	0.000000	T	0.51601	0.1684	N	0.08118	0	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.944	T	0.60419	-0.7267	10	0.56958	D	0.05	-11.8156	20.2786	0.98501	0.0:1.0:0.0:0.0	.	1380;1380	D3DS86;Q9ULT8	.;HECD1_HUMAN	I	1380;1382;1380;807	ENSP00000450697:S1380I;ENSP00000382269:S1380I;ENSP00000451860:S807I	ENSP00000261312:S1382I	S	-	2	0	HECTD1	30668189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.868000	0.98415	0.557000	0.71058	AGT		0.483	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
HEATR5A	25938	broad.mit.edu	37	14	31771711	31771711	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31771711G>T	ENST00000389961.3	-	32	5235	c.5236C>A	c.(5236-5238)Ctc>Atc	p.L1746I	HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1459I|HEATR5A_ENST00000543095.2_Missense_Mutation_p.L1752I|HEATR5A_ENST00000439348.1_Intron|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1746								p.L1746I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATAGTAGGGAGAATTGAGATG	0.408																																					p.L1459I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4375A	14						.						26.0	27.0	27.0					14																	31771711		1827	4082	5909	30841462	SO:0001583	missense	25938	exon27			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5236C>A	14.37:g.31771711G>T	ENSP00000374611:p.Leu1746Ile		30841462	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37		.	.	.	.	.	.	.	.	.	.	G	16.58	3.163604	0.57476	.	.	ENSG00000129493	ENST00000389961;ENST00000439727;ENST00000543095	T;T;T	0.68331	-0.32;-0.32;-0.32	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.81621	0.4861	M	0.81802	2.56	0.80722	D	1	.	.	.	.	.	.	D	0.84567	0.0653	8	0.72032	D	0.01	.	18.41	0.90548	0.0:0.0:1.0:0.0	.	.	.	.	I	1746;1459;1752	ENSP00000374611:L1746I;ENSP00000408681:L1459I;ENSP00000437968:L1752I	ENSP00000374611:L1746I	L	-	1	0	HEATR5A	30841462	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.038000	0.70964	2.441000	0.82636	0.561000	0.74099	CTC		0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
HEATR5A	25938	broad.mit.edu	37	14	31813174	31813174	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31813174G>T	ENST00000389961.3	-	20	3137	c.3138C>A	c.(3136-3138)atC>atA	p.I1046I	HEATR5A_ENST00000439727.1_Silent_p.I759I|HEATR5A_ENST00000404677.3_Silent_p.I1052I|HEATR5A_ENST00000543095.2_Silent_p.I1052I|HEATR5A_ENST00000439348.1_Silent_p.I1046I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1046								p.I1046I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAGGCAAGAGATGGCCTGAG	0.448																																					p.I759I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2277A	14						.						85.0	94.0	91.0					14																	31813174		2190	4298	6488	30882925	SO:0001819	synonymous_variant	25938	exon15			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3138C>A	14.37:g.31813174G>T			30882925	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Silent	SNP	ENST00000389961.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.854|9.854	1.194576|1.194576	0.22037|0.22037	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000538864;ENST00000549719	.|.	.|.	.|.	5.98|5.98	5.08|5.08	0.68730|0.68730	.|.	.|.	.|.	.|.	.|.	T|T	0.59088|0.59088	0.2168|0.2168	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57837|0.57837	-0.7742|-0.7742	4|4	.|.	.|.	.|.	.|.	8.024|8.024	0.30425|0.30425	0.1303:0.0:0.7369:0.1327|0.1303:0.0:0.7369:0.1327	.|.	.|.	.|.	.|.	I|Y	695|680;71	.|.	.|.	L|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30882925|30882925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.376000|2.376000	0.44292|0.44292	1.511000|1.511000	0.48818|0.48818	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
HEATR5A	25938	broad.mit.edu	37	14	31844094	31844094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31844094C>A	ENST00000389961.3	-	11	1770	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.E304*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E597*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.E597*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E591*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	591								p.E591*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTCTGTTTCTAGATCTTTA	0.468																																					p.E304X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G910T	14						.						63.0	65.0	64.0					14																	31844094		1920	4128	6048	30913845	SO:0001587	stop_gained	25938	exon6			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1771G>T	14.37:g.31844094C>A	ENSP00000374611:p.Glu591*		30913845	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	40|40|40	8.166897|8.166897|8.166897	0.98686|0.98686|0.98686	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366|ENST00000538864	.|.|.	.|.|.	.|.|.	5.92|5.92|5.92	5.92|5.92|5.92	0.95590|0.95590|0.95590	.|.|.	0.050910|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.80303|.	.|0.4598|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.77824|.	.|-0.2444|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	20.3172|20.3172|20.3172	0.98658|0.98658|0.98658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	591;591;304;597;597|239|224	.|.|.	ENSP00000374611:E591X|.|.	E|R|X	-|-|-	1|2|3	0|0|2	HEATR5A|HEATR5A|HEATR5A	30913845|30913845|30913845	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.792000|7.792000|7.792000	0.85828|0.85828|0.85828	2.801000|2.801000|2.801000	0.96364|0.96364|0.96364	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|AGA|TAG		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
HEATR5A	25938	broad.mit.edu	37	14	31855692	31855692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31855692C>A	ENST00000389961.3	-	8	1260	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.E134*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.E427*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.E427*|HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.E421*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	421								p.E421*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTCCAAGTTCTTGTAAAGCA	0.433																																					p.E134X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G400T	14						.						121.0	118.0	119.0					14																	31855692		1883	4118	6001	30925443	SO:0001587	stop_gained	25938	exon3			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1261G>T	14.37:g.31855692C>A	ENSP00000374611:p.Glu421*		30925443	NM_015473	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	ENST00000389961.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	39|39|39	7.374785|7.374785|7.374785	0.98245|0.98245|0.98245	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864|ENST00000550366	.|.|.	.|.|.	.|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.80319|0.80319	.|0.4601|0.4601	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.77781|0.77781	.|-0.2459|-0.2459	.|3|3	0.87932|.|.	D|.|.	0|.|.	.|.|.	20.3495|20.3495|20.3495	0.98807|0.98807|0.98807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	421;421;134;427;427|54|69	.|.|.	ENSP00000374611:E421X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	HEATR5A|HEATR5A|HEATR5A	30925443|30925443|30925443	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.959000|0.959000|0.959000	0.62525|0.62525|0.62525	7.168000|7.168000|7.168000	0.77570|0.77570|0.77570	2.814000|2.814000|2.814000	0.96858|0.96858|0.96858	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAA|AAG|AGA		0.433	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473	
DTD2	112487	broad.mit.edu	37	14	31917405	31917405	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:31917405C>T	ENST00000310850.4	-	3	553	c.437G>A	c.(436-438)gGc>gAc	p.G146D	RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Missense_Mutation_p.G146D|CTD-2213F21.2_ENST00000502430.2_RNA	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	146					D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.G146D(1)									CCCATAAGTGCCATGTTCCAC	0.393																																					p.G146D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	14						.						234.0	231.0	232.0					14																	31917405		2203	4300	6503	30987156	SO:0001583	missense	112487	exon3			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.437G>A	14.37:g.31917405C>T	ENSP00000312224:p.Gly146Asp		30987156	NM_080664	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154213	0.94645	.	.	ENSG00000129480	ENST00000310850;ENST00000356180	T;T	0.77358	-1.09;-1.09	6.04	6.04	0.98038	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90792	0.4687	10	0.87932	D	0	-3.2728	20.5948	0.99439	0.0:1.0:0.0:0.0	.	146	Q96FN9	DTD2_HUMAN	D	146	ENSP00000312224:G146D;ENSP00000348503:G146D	ENSP00000312224:G146D	G	-	2	0	C14orf126	30987156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.333000	0.79214	2.873000	0.98535	0.563000	0.77884	GGC		0.393	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664	
ARHGAP5	394	broad.mit.edu	37	14	32560992	32560992	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:32560992G>A	ENST00000345122.3	+	2	1432	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D373N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D373N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D373N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	373	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D373N(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAGAGAGCAGATTTCCAGTT	0.358																																					p.D373N	NSCLC(9;77 350 3443 29227 41353)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1117A	14						.						105.0	111.0	109.0					14																	32560992		2183	4287	6470	31630743	SO:0001583	missense	394	exon2			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1117G>A	14.37:g.32560992G>A	ENSP00000371897:p.Asp373Asn		31630743	NM_001030055	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638647	0.67130	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.64	5.64	0.86602	FF domain (1);	0.206005	0.49305	D	0.000146	T	0.15609	0.0376	L	0.52573	1.65	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.28553	0.091;0.042	T	0.06023	-1.0850	10	0.27082	T	0.32	.	19.7009	0.96052	0.0:0.0:1.0:0.0	.	373;373	Q13017-2;Q13017	.;RHG05_HUMAN	N	373	ENSP00000452222:D373N;ENSP00000441692:D373N;ENSP00000371897:D373N;ENSP00000393307:D373N	ENSP00000371897:D373N	D	+	1	0	ARHGAP5	31630743	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.646000	0.89796	0.563000	0.77884	GAT		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	G	A	rs139751571	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:33016050G>A	ENST00000280979.4	+	4	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_ENST00000557272.1_Missense_Mutation_p.A731T|AKAP6_ENST00000557354.1_Missense_Mutation_p.A731T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	731					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A731T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGCCTCTCGCTGGCATGAA	0.448													G|||	7	0.00139776	0.0053	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0				p.A731T	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2191A	14						.	G	THR/ALA	26,4380	34.3+/-65.2	0,26,2177	64.0	62.0	62.0		2191	2.5	1.0	14	dbSNP_134	62	0,8600		0,0,4300	yes	missense	AKAP6	NM_004274.4	58	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	benign	731/2320	33016050	26,12980	2203	4300	6503	32085801	SO:0001583	missense	9472	exon4			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2191G>A	14.37:g.33016050G>A	ENSP00000280979:p.Ala731Thr		32085801	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	6.915	0.538489	0.13250	0.005901	0.0	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.30448	1.53;1.53;1.53	6.17	2.52	0.30459	.	0.572707	0.18217	N	0.148006	T	0.10423	0.0255	N	0.08118	0	0.19775	N	0.99995	B;B	0.12630	0.001;0.006	B;B	0.08055	0.001;0.003	T	0.17410	-1.0370	10	0.46703	T	0.11	-1.973	7.7743	0.29029	0.2421:0.0:0.1282:0.6297	.	731;731	A7E242;Q13023	.;AKAP6_HUMAN	T	731	ENSP00000280979:A731T;ENSP00000450531:A731T;ENSP00000451247:A731T	ENSP00000280979:A731T	A	+	1	0	AKAP6	32085801	0.997000	0.39634	0.999000	0.59377	0.103000	0.19146	1.978000	0.40598	0.193000	0.20303	-1.006000	0.02489	GCT		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33147553	33147553	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:33147553G>T	ENST00000280979.4	+	8	2937	c.2767G>T	c.(2767-2769)Gat>Tat	p.D923Y	AKAP6_ENST00000557272.1_Missense_Mutation_p.D923Y|AKAP6_ENST00000557354.1_Missense_Mutation_p.D923Y	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	923					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D923Y(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCACAAAGAGATGCTGTTGA	0.438																																					p.D923Y	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2767T	14						.						134.0	117.0	123.0					14																	33147553		2203	4300	6503	32217304	SO:0001583	missense	9472	exon8			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2767G>T	14.37:g.33147553G>T	ENSP00000280979:p.Asp923Tyr		32217304	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.693996	0.68386	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.20332	3.34;2.08;2.09	5.3	5.3	0.74995	.	0.069487	0.64402	D	0.000015	T	0.33411	0.0862	N	0.19112	0.55	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.18871	-1.0323	10	0.72032	D	0.01	-15.3955	17.1295	0.86723	0.0:0.0:1.0:0.0	.	923;923	A7E242;Q13023	.;AKAP6_HUMAN	Y	923	ENSP00000280979:D923Y;ENSP00000450531:D923Y;ENSP00000451247:D923Y	ENSP00000280979:D923Y	D	+	1	0	AKAP6	32217304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.775000	0.75018	2.480000	0.83734	0.585000	0.79938	GAT		0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33292123	33292123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:33292123G>T	ENST00000280979.4	+	13	5274	c.5104G>T	c.(5104-5106)Gag>Tag	p.E1702*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1702			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.E1702Q(2)|p.E1702*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTTTGCTCAGAGGATATTGT	0.463																																					p.E1702X	Melanoma(49;821 1200 7288 13647 42351)											AKAP6,breast,NS,Substitution - Missense,0	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	breast(2)|large_intestine(1)	c.G5104T	14						.						114.0	105.0	108.0					14																	33292123		2203	4300	6503	32361874	SO:0001587	stop_gained	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5104G>T	14.37:g.33292123G>T	ENSP00000280979:p.Glu1702*		32361874	NM_004274	A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	45	11.539272	0.99573	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.98	5.98	0.97165	.	0.049889	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5256	20.4561	0.99145	0.0:0.0:1.0:0.0	.	.	.	.	X	1702	.	ENSP00000280979:E1702X	E	+	1	0	AKAP6	32361874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.922000	0.92789	2.843000	0.97960	0.650000	0.86243	GAG		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33293654	33293654	+	Missense_Mutation	SNP	C	C	G	rs201151556		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:33293654C>G	ENST00000280979.4	+	13	6805	c.6635C>G	c.(6634-6636)gCt>gGt	p.A2212G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2212					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A2212G(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GATACAGTGGCTCTTTCAAGT	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0				p.A2212G	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6635G	14						.						100.0	90.0	93.0					14																	33293654		2203	4300	6503	32363405	SO:0001583	missense	9472	exon13			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6635C>G	14.37:g.33293654C>G	ENSP00000280979:p.Ala2212Gly		32363405	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	8.820	0.937427	0.18206	.	.	ENSG00000151320	ENST00000280979	T	0.05139	3.49	5.11	1.97	0.26223	.	0.821838	0.10903	N	0.621432	T	0.05364	0.0142	L	0.51422	1.61	0.09310	N	1	P	0.35433	0.501	B	0.32864	0.154	T	0.38045	-0.9679	10	0.25106	T	0.35	-0.5924	1.5897	0.02651	0.2415:0.4496:0.1242:0.1847	.	2212	Q13023	AKAP6_HUMAN	G	2212	ENSP00000280979:A2212G	ENSP00000280979:A2212G	A	+	2	0	AKAP6	32363405	0.000000	0.05858	0.005000	0.12908	0.124000	0.20399	0.178000	0.16820	0.633000	0.30452	-0.140000	0.14226	GCT		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
NPAS3	64067	broad.mit.edu	37	14	34269462	34269462	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:34269462C>T	ENST00000356141.4	+	12	1949	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	NPAS3_ENST00000357798.5_Missense_Mutation_p.T637M|NPAS3_ENST00000346562.2_Missense_Mutation_p.T618M|NPAS3_ENST00000548645.1_Missense_Mutation_p.T620M|NPAS3_ENST00000551492.1_Missense_Mutation_p.T655M			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	650					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.T618M(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGATCAAGACGGAGATCTCA	0.632																																					p.T618M												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1853T	14						.						56.0	56.0	56.0					14																	34269462		2203	4300	6503	33339213	SO:0001583	missense	64067	exon11			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1949C>T	14.37:g.34269462C>T	ENSP00000348460:p.Thr650Met		33339213	NM_022123	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478950	0.63849	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71341	-0.56;2.95;2.96;2.96;2.94;2.81	5.07	5.07	0.68467	.	0.118877	0.56097	D	0.000036	T	0.72653	0.3487	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.58077	0.832;0.684;0.832;0.832	T	0.77373	-0.2612	10	0.72032	D	0.01	.	18.4473	0.90690	0.0:1.0:0.0:0.0	.	620;650;618;637	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	M	624;655;618;620;650;637	ENSP00000448373:T624M;ENSP00000450392:T655M;ENSP00000319610:T618M;ENSP00000448916:T620M;ENSP00000348460:T650M;ENSP00000350446:T637M	ENSP00000319610:T618M	T	+	2	0	NPAS3	33339213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.329000	0.79093	0.555000	0.69702	ACG		0.632	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
EAPP	55837	broad.mit.edu	37	14	34985664	34985664	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:34985664G>T	ENST00000250454.3	-	6	791	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	237					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S237Y(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTCCCGGTTAGACCTCATCTT	0.443																																					p.S237Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C710A	14						.						252.0	247.0	248.0					14																	34985664		1964	4134	6098	34055415	SO:0001583	missense	55837	exon6			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.710C>A	14.37:g.34985664G>T	ENSP00000250454:p.Ser237Tyr		34055415	NM_018453	Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669404	0.47677	.	.	ENSG00000129518	ENST00000250454	T	0.45668	0.89	5.44	5.44	0.79542	.	0.494514	0.23496	N	0.047549	T	0.43567	0.1253	L	0.59436	1.845	0.28779	N	0.899942	P	0.38335	0.627	B	0.40782	0.34	T	0.48658	-0.9016	10	0.48119	T	0.1	-6.3946	12.7433	0.57266	0.0:0.0:0.728:0.272	.	237	Q56P03	EAPP_HUMAN	Y	237	ENSP00000250454:S237Y	ENSP00000250454:S237Y	S	-	2	0	EAPP	34055415	0.630000	0.27155	0.095000	0.20976	0.401000	0.30781	3.835000	0.55805	2.720000	0.93068	0.650000	0.86243	TCT		0.443	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	
BAZ1A	11177	broad.mit.edu	37	14	35234232	35234232	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35234232G>A	ENST00000382422.2	-	21	3871	c.3544C>T	c.(3544-3546)Ctc>Ttc	p.L1182F	BAZ1A_ENST00000360310.1_Missense_Mutation_p.L1182F|BAZ1A_ENST00000358716.4_Missense_Mutation_p.L1150F			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1182					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.L1182F(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AATACCTTGAGCTTTGGTCGA	0.373																																					p.L1182F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3544T	14						.						92.0	85.0	87.0					14																	35234232		2203	4300	6503	34303983	SO:0001583	missense	11177	exon22			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.3544C>T	14.37:g.35234232G>A	ENSP00000371859:p.Leu1182Phe		34303983	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407844	0.83340	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.81908	-1.55;-1.55;-1.55	5.67	5.67	0.87782	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.94540	0.7744	10	0.87932	D	0	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	1150;1182	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	F	1150;1182;1182;834	ENSP00000351555:L1150F;ENSP00000371859:L1182F;ENSP00000353458:L1182F	ENSP00000351555:L1150F	L	-	1	0	BAZ1A	34303983	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.226000	0.72277	2.680000	0.91292	0.655000	0.94253	CTC		0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
BAZ1A	11177	broad.mit.edu	37	14	35262071	35262071	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35262071G>T	ENST00000382422.2	-	11	1747	c.1420C>A	c.(1420-1422)Ctt>Att	p.L474I	BAZ1A_ENST00000360310.1_Missense_Mutation_p.L474I|BAZ1A_ENST00000358716.4_Missense_Mutation_p.L474I			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	474	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.L474I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAGAAAAAAAGCAATTCACAC	0.388																																					p.L474I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1420A	14						.						140.0	130.0	133.0					14																	35262071		2203	4300	6503	34331822	SO:0001583	missense	11177	exon12			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1420C>A	14.37:g.35262071G>T	ENSP00000371859:p.Leu474Ile		34331822	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448776	0.84101	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.92699	-1.51;-3.09;-3.09	5.08	5.08	0.68730	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.000000	0.85682	D	0.000000	D	0.94228	0.8147	L	0.52759	1.655	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.99;0.996	D	0.94264	0.7505	10	0.66056	D	0.02	.	13.1995	0.59758	0.0768:0.0:0.9232:0.0	.	474;474	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	I	474;474;474;158	ENSP00000351555:L474I;ENSP00000371859:L474I;ENSP00000353458:L474I	ENSP00000351555:L474I	L	-	1	0	BAZ1A	34331822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.049000	0.76613	2.527000	0.85204	0.655000	0.94253	CTT		0.388	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
SRP54	6729	broad.mit.edu	37	14	35488243	35488243	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35488243G>T	ENST00000556994.1	+	14	1516	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N	SRP54_ENST00000555557.1_Missense_Mutation_p.K309N|SRP54_ENST00000546080.1_Missense_Mutation_p.K324N|SRP54_ENST00000216774.6_Missense_Mutation_p.K373N			P61011	SRP54_HUMAN	signal recognition particle 54kDa	373	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.K373N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CAAGGCTAAAGAAATTAATGA	0.353																																					p.K373N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1119T	14						.						102.0	99.0	100.0					14																	35488243		2203	4300	6503	34557994	SO:0001583	missense	6729	exon13			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1119G>T	14.37:g.35488243G>T	ENSP00000451818:p.Lys373Asn		34557994	NM_003136	B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028492	0.75390	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.64	2.39	0.29439	Signal recognition particle, SRP54 subunit, M-domain (3);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.87381	2.88	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.61328	0.887;0.887	T	0.80432	-0.1385	9	0.59425	D	0.04	-17.4984	12.1763	0.54188	0.2181:0.0:0.7819:0.0	.	324;373	B4DUW6;P61011	.;SRP54_HUMAN	N	373;373;324;309	.	ENSP00000216774:K373N	K	+	3	2	SRP54	34557994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.896000	0.63222	0.747000	0.32809	0.591000	0.81541	AAG		0.353	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
PPP2R3C	55012	broad.mit.edu	37	14	35554882	35554882	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35554882C>T	ENST00000261475.5	-	13	1629	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	426					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D426N(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CCATTCAAATCGATTAGAATG	0.383																																					p.D426N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	14						.						137.0	128.0	131.0					14																	35554882		2203	4300	6503	34624633	SO:0001583	missense	55012	exon13			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.1276G>A	14.37:g.35554882C>T	ENSP00000261475:p.Asp426Asn		34624633	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	c	34	5.297435	0.95574	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77458	0.4133	M	0.83774	2.66	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.74487	-0.3649	9	0.02654	T	1	-13.1202	19.3049	0.94157	0.0:1.0:0.0:0.0	.	426	Q969Q6	P2R3C_HUMAN	N	426;101	.	ENSP00000261475:D426N	D	-	1	0	PPP2R3C	34624633	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.626000	0.83164	2.564000	0.86499	0.579000	0.79373	GAT		0.383	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
PPP2R3C	55012	broad.mit.edu	37	14	35565773	35565773	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35565773T>G	ENST00000261475.5	-	9	1182	c.829A>C	c.(829-831)Aga>Cga	p.R277R		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	277	EF-hand 1.				activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R277R(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CCATAAACTCTTAGGGCAGAA	0.363																																					p.R277R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A829C	14						.						130.0	117.0	121.0					14																	35565773		2203	4300	6503	34635524	SO:0001819	synonymous_variant	55012	exon9			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.829A>C	14.37:g.35565773T>G			34635524	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Silent	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	T	4.632	0.117482	0.08881	.	.	ENSG00000092020	ENST00000555614	.	.	.	5.01	0.887	0.19200	.	.	.	.	.	T	0.65933	0.2739	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	4	.	.	.	-5.9823	12.9564	0.58430	0.0:0.0:0.3799:0.6201	.	.	.	.	T	205	.	.	K	-	2	0	PPP2R3C	34635524	0.998000	0.40836	0.886000	0.34754	0.626000	0.37791	2.148000	0.42235	0.304000	0.22809	0.454000	0.30748	AAG		0.363	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
PPP2R3C	55012	broad.mit.edu	37	14	35577367	35577367	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35577367G>T	ENST00000261475.5	-	5	833	c.480C>A	c.(478-480)ttC>ttA	p.F160L	PPP2R3C_ENST00000555644.1_Missense_Mutation_p.F160L	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	160					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F160L(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CATAATTAAAGAACTGCATGA	0.313																																					p.F160L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C480A	14						.						67.0	70.0	69.0					14																	35577367		2202	4293	6495	34647118	SO:0001583	missense	55012	exon5			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.480C>A	14.37:g.35577367G>T	ENSP00000261475:p.Phe160Leu		34647118	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.77|11.77	1.738081|1.738081	0.30774|0.30774	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000261475;ENST00000554361;ENST00000555644;ENST00000557278|ENST00000555614	T;T|.	0.58797|.	0.31;0.31|.	5.8|5.8	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40448|0.40448	0.1117|0.1117	N|N	0.21282|0.21282	0.65|0.65	0.58432|0.58432	D|D	0.999996|0.999996	B;B|.	0.12013|.	0.005;0.002|.	B;B|.	0.15052|.	0.012;0.006|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.31617|.	T|.	0.26|.	-7.9479|-7.9479	6.8367|6.8367	0.23941|0.23941	0.2917:0.0:0.7083:0.0|0.2917:0.0:0.7083:0.0	.|.	160;160|.	Q86US5;Q969Q6|.	.;P2R3C_HUMAN|.	L|I	160;132;160;160|89	ENSP00000261475:F160L;ENSP00000450716:F132L|.	ENSP00000261475:F160L|.	F|L	-|-	3|1	2|0	PPP2R3C|PPP2R3C	34647118|34647118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	2.980000|2.980000	0.49321|0.49321	1.457000|1.457000	0.47850|0.47850	0.650000|0.650000	0.86243|0.86243	TTC|CTT		0.313	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
KIAA0391	9692	broad.mit.edu	37	14	35592591	35592591	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35592591C>A	ENST00000557565.1	+	2	521	c.140C>A	c.(139-141)tCt>tAt	p.S47Y	KIAA0391_ENST00000321130.10_Missense_Mutation_p.S47Y|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000603544.1_Missense_Mutation_p.S47Y|PPP2R3C_ENST00000555644.1_5'Flank|PPP2R3C_ENST00000261475.5_5'Flank|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000534898.4_Missense_Mutation_p.S47Y|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000605870.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	47					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.S47Y(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGGTTGTTTTCTCTTAAAACA	0.473																																					p.S47Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C140A	14						.						63.0	58.0	60.0					14																	35592591		2203	4300	6503	34662342	SO:0001583	missense	9692	exon2			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.140C>A	14.37:g.35592591C>A	ENSP00000454657:p.Ser47Tyr		34662342	NM_014672	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633505	0.67015	.	.	ENSG00000100890	ENST00000321130;ENST00000534898;ENST00000556121	T;T	0.54279	0.61;0.58	5.25	2.31	0.28768	.	0.292616	0.24912	N	0.034604	T	0.49575	0.1565	M	0.70595	2.14	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.28916	0.096;0.096	T	0.48658	-0.9016	10	0.87932	D	0	-10.4289	9.8369	0.40975	0.1457:0.5913:0.2629:0.0	.	47;47	O15091-2;O15091	.;MRRP3_HUMAN	Y	47	ENSP00000324697:S47Y;ENSP00000440915:S47Y	ENSP00000324697:S47Y	S	+	2	0	KIAA0391	34662342	1.000000	0.71417	0.993000	0.49108	0.798000	0.45092	0.817000	0.27281	0.176000	0.19873	0.563000	0.77884	TCT		0.473	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
NFKBIA	4792	broad.mit.edu	37	14	35871252	35871252	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35871252G>A	ENST00000216797.5	-	6	1022	c.921C>T	c.(919-921)gaC>gaT	p.D307D	NFKBIA_ENST00000557100.1_5'Flank|NFKBIA_ENST00000557140.1_Silent_p.D264D|NFKBIA_ENST00000557389.1_Silent_p.D217D	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	307					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.D307D(1)		breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	CAAACACACAGTCATCATAGG	0.453																																					p.D307D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	14						.						82.0	88.0	86.0					14																	35871252		2203	4300	6503	34941003	SO:0001819	synonymous_variant	4792	exon6				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.921C>T	14.37:g.35871252G>A			34941003	NM_020529	B2R8L6	Silent	SNP	ENST00000216797.5	37	CCDS9656.1																																																																																				0.453	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529	
INSM2	84684	broad.mit.edu	37	14	36004730	36004730	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:36004730G>T	ENST00000307169.3	+	1	1483	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E424D(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GGGGATCCGAGATTTTCGTGT	0.652																																					p.E424D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1272T	14						.						55.0	65.0	62.0					14																	36004730		2194	4299	6493	35074481	SO:0001583	missense	84684	exon1			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1272G>T	14.37:g.36004730G>T	ENSP00000306523:p.Glu424Asp		35074481	NM_032594	A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613563	0.03690	.	.	ENSG00000168348	ENST00000307169	T	0.00902	5.56	4.85	-0.409	0.12378	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255528	0.20575	N	0.089650	T	0.00906	0.0030	L	0.32530	0.975	0.35963	D	0.834767	B	0.15141	0.012	B	0.12156	0.007	T	0.53012	-0.8498	10	0.72032	D	0.01	-13.2186	7.7136	0.28692	0.2096:0.2194:0.5711:0.0	.	424	Q96T92	INSM2_HUMAN	D	424	ENSP00000306523:E424D	ENSP00000306523:E424D	E	+	3	2	INSM2	35074481	0.999000	0.42202	0.320000	0.25306	0.132000	0.20833	0.478000	0.22212	-0.541000	0.06257	-1.134000	0.01955	GAG		0.652	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1		
RALGAPA1	253959	broad.mit.edu	37	14	36104786	36104786	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:36104786G>T	ENST00000389698.3	-	31	4567	c.4177C>A	c.(4177-4179)Ctc>Atc	p.L1393I	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1440I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1393I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1406I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1393	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1393I(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAAGGCAGAGAAGTAAAGAT	0.338																																					p.L1393I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4177A	14						.						48.0	44.0	45.0					14																	36104786		2203	4300	6503	35174537	SO:0001583	missense	253959	exon31			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4177C>A	14.37:g.36104786G>T	ENSP00000374348:p.Leu1393Ile		35174537	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460258	0.63401	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;1.45;-0.26;-0.26	5.27	2.42	0.29668	.	0.000000	0.64402	D	0.000001	T	0.75882	0.3910	L	0.59436	1.845	0.42816	D	0.993977	D;D;D;D	0.76494	0.999;0.997;0.998;0.974	D;D;D;P	0.81914	0.995;0.956;0.959;0.841	T	0.76334	-0.2997	10	0.59425	D	0.04	-7.2736	11.2699	0.49133	0.2101:0.0:0.7899:0.0	.	1440;1406;1393;1393	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1393;1393;1393;1440;31;1406;1440	ENSP00000374348:L1393I;ENSP00000302647:L1393I;ENSP00000258840:L1440I;ENSP00000451133:L31I;ENSP00000371803:L1406I;ENSP00000451877:L1440I	ENSP00000258840:L1440I	L	-	1	0	RALGAPA1	35174537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.858000	0.55979	0.719000	0.32188	0.563000	0.77884	CTC		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
SSTR1	6751	broad.mit.edu	37	14	38679126	38679126	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:38679126A>C	ENST00000267377.2	+	3	1149	c.532A>C	c.(532-534)Aac>Cac	p.N178H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	178					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.N178H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CAAGGTAGTAAACCTGGGCGT	0.642																																					p.N178H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A532C	14						.						76.0	76.0	76.0					14																	38679126		2203	4300	6503	37748877	SO:0001583	missense	6751	exon3				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.532A>C	14.37:g.38679126A>C	ENSP00000267377:p.Asn178His		37748877	NM_001049		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299841	0.81136	.	.	ENSG00000139874	ENST00000267377	T	0.71934	-0.61	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	D	0.87034	0.6077	M	0.92970	3.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.90131	0.4206	10	0.87932	D	0	.	13.7174	0.62705	1.0:0.0:0.0:0.0	.	178	P30872	SSR1_HUMAN	H	178	ENSP00000267377:N178H	ENSP00000267377:N178H	N	+	1	0	SSTR1	37748877	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.107000	0.94261	2.034000	0.60081	0.459000	0.35465	AAC		0.642	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2		
CLEC14A	161198	broad.mit.edu	37	14	38724496	38724496	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:38724496A>G	ENST00000342213.2	-	1	1078	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	244						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.C244C(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)		CGGGGCAGGGACACAACACAT	0.617																																					p.C244C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T732C	14						.						119.0	128.0	125.0					14																	38724496		2203	4300	6503	37794247	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.732T>C	14.37:g.38724496A>G			37794247	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	A	4.420	0.077756	0.08485	.	.	ENSG00000176435	ENST00000546356	.	.	.	3.88	-0.51	0.11973	.	.	.	.	.	T	0.55033	0.1895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	5	0.38643	T	0.18	-8.9553	6.9347	0.24461	0.4782:0.0:0.5218:0.0	.	.	.	.	A	10	.	ENSP00000443662:V10A	V	-	2	0	CLEC14A	37794247	0.994000	0.37717	0.991000	0.47740	0.329000	0.28539	0.138000	0.16016	-0.060000	0.13132	-0.589000	0.04120	GTC		0.617	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
SEC23A	10484	broad.mit.edu	37	14	39509998	39509998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39509998C>A	ENST00000307712.6	-	18	2597	c.2080G>T	c.(2080-2082)Gaa>Taa	p.E694*	SEC23A_ENST00000537403.1_Nonsense_Mutation_p.E492*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E665*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E592*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	694					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.E694*(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGAAGAATTTCCTGTGCATCA	0.438																																					p.E694X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2080T	14						.						126.0	116.0	119.0					14																	39509998		2203	4300	6503	38579749	SO:0001587	stop_gained	10484	exon18			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2080G>T	14.37:g.39509998C>A	ENSP00000306881:p.Glu694*		38579749	NM_006364	B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	45	11.993167	0.99625	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.034	19.9525	0.97208	0.0:1.0:0.0:0.0	.	.	.	.	X	492;694;592;665	.	ENSP00000306881:E694X	E	-	1	0	SEC23A	38579749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.664000	0.83830	2.719000	0.93026	0.655000	0.94253	GAA		0.438	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2		
GEMIN2	8487	broad.mit.edu	37	14	39587287	39587287	+	Nonsense_Mutation	SNP	C	C	T	rs146348850		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39587287C>T	ENST00000308317.6	+	3	423	c.340C>T	c.(340-342)Cga>Tga	p.R114*	GEMIN2_ENST00000396249.2_Nonsense_Mutation_p.R114*|GEMIN2_ENST00000250379.8_Nonsense_Mutation_p.R114*	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	114					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)		p.R114*(1)									TTCAACTGTTCGACAGGTAAG	0.388																																					p.R114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C340T	14						.	C	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	56.0	57.0		340,340,340	6.0	1.0	14	dbSNP_134	57	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	GEMIN2	NM_001009182.1,NM_001009183.1,NM_003616.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	114/266,114/251,114/281	39587287	1,13005	2203	4300	6503	38657038	SO:0001587	stop_gained	8487	exon3			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.340C>T	14.37:g.39587287C>T	ENSP00000308533:p.Arg114*		38657038	NM_001009183	B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Nonsense_Mutation	SNP	ENST00000308317.6	37	CCDS9669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.590301|5.590301	0.96590|0.96590	2.27E-4|2.27E-4	0.0|0.0	ENSG00000092208|ENSG00000092208	ENST00000308317;ENST00000396249;ENST00000250379|ENST00000534684	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76800	.|0.4038	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73736	.|-0.3889	.|3	0.02654|.	T|.	1|.	-15.979|-15.979	19.3958|19.3958	0.94607|0.94607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	114|108	.|.	ENSP00000250379:R114X|.	R|S	+|+	1|2	2|0	GEMIN2|GEMIN2	38657038|38657038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.638000|2.638000	0.46562|0.46562	2.886000|2.886000	0.99085|0.99085	0.644000|0.644000	0.83932|0.83932	CGA|TCG		0.388	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276730.2		
PNN	5411	broad.mit.edu	37	14	39645740	39645740	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39645740C>A	ENST00000216832.4	+	3	262	c.195C>A	c.(193-195)ttC>ttA	p.F65L	PNN_ENST00000553331.1_Missense_Mutation_p.F65L|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.F65L	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	65	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.F65L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GGCGTGGATTCTCAGATAGTG	0.368																																					p.F65L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C195A	14						.						77.0	78.0	78.0					14																	39645740		2203	4300	6503	38715491	SO:0001583	missense	5411	exon3			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.195C>A	14.37:g.39645740C>A	ENSP00000216832:p.Phe65Leu		38715491	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962343	0.34659	.	.	ENSG00000100941	ENST00000553331;ENST00000216832;ENST00000556530	T	0.28895	1.59	5.7	5.7	0.88788	Pinin/SDK (2);	0.053822	0.85682	D	0.000000	T	0.13713	0.0332	N	0.01874	-0.695	0.46774	D	0.999196	B	0.15141	0.012	B	0.15052	0.012	T	0.19418	-1.0306	10	0.07325	T	0.83	-4.164	19.4583	0.94904	0.0:1.0:0.0:0.0	.	65	Q9H307	PININ_HUMAN	L	65	ENSP00000216832:F65L	ENSP00000216832:F65L	F	+	3	2	PNN	38715491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.819000	0.75262	2.681000	0.91329	0.655000	0.94253	TTC		0.368	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687	
PNN	5411	broad.mit.edu	37	14	39650231	39650231	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39650231A>T	ENST00000216832.4	+	9	1385	c.1318A>T	c.(1318-1320)Aaa>Taa	p.K440*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	440	Glu-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.K440*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TAAAGAATGTAAAACCCTTTC	0.393																																					p.K440X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1318T	14						.						60.0	64.0	63.0					14																	39650231		2203	4300	6503	38719982	SO:0001587	stop_gained	5411	exon9			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1318A>T	14.37:g.39650231A>T	ENSP00000216832:p.Lys440*		38719982	NM_002687	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Nonsense_Mutation	SNP	ENST00000216832.4	37	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349834	0.82132	.	.	ENSG00000100941	ENST00000216832	.	.	.	5.9	3.48	0.39840	.	0.360068	0.32134	N	0.006521	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-8.396	6.6592	0.23004	0.6297:0.2395:0.1308:0.0	.	.	.	.	X	440	.	ENSP00000216832:K440X	K	+	1	0	PNN	38719982	0.290000	0.24343	1.000000	0.80357	0.984000	0.73092	0.849000	0.27723	0.449000	0.26747	0.528000	0.53228	AAA		0.393	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687	
MIA2	117153	broad.mit.edu	37	14	39716532	39716532	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39716532C>T	ENST00000280082.3	+	4	953	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	MIA2_ENST00000556784.1_Missense_Mutation_p.R251W|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R252W	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	252					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.R252W(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAGCTCATTTCGGAGTAGAAA	0.393																																					p.R252W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C754T	14						.						72.0	73.0	73.0					14																	39716532		2203	4300	6503	38786283	SO:0001583	missense	117153	exon4			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.754C>T	14.37:g.39716532C>T	ENSP00000280082:p.Arg252Trp		38786283	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538941	0.27475	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.49720	0.77;0.79;3.15	5.66	1.36	0.22044	.	1.285930	0.05614	N	0.578675	T	0.45696	0.1355	L	0.40543	1.245	0.19575	N	0.999969	D;D	0.69078	0.996;0.997	B;P	0.49953	0.424;0.627	T	0.34428	-0.9829	9	.	.	.	-12.6747	5.3675	0.16121	0.2304:0.4799:0.2243:0.0654	.	252;252	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	W	252;251;252	ENSP00000280082:R252W;ENSP00000451934:R251W;ENSP00000452252:R252W	.	R	+	1	2	MIA2;RP11-407N17.3	38786283	0.589000	0.26807	0.658000	0.29665	0.079000	0.17450	0.970000	0.29383	0.703000	0.31848	-0.188000	0.12872	CGG		0.393	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
MIA2	117153	broad.mit.edu	37	14	39716645	39716645	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39716645G>T	ENST00000280082.3	+	4	1066	c.867G>T	c.(865-867)aaG>aaT	p.K289N	MIA2_ENST00000556784.1_Missense_Mutation_p.K288N|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.K289N	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	289					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.K289N(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		CAGTGCCAAAGACACAGTCTG	0.408																																					p.K289N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867T	14						.						114.0	113.0	114.0					14																	39716645		2203	4300	6503	38786396	SO:0001583	missense	117153	exon4			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.867G>T	14.37:g.39716645G>T	ENSP00000280082:p.Lys289Asn		38786396	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	3.740	-0.053784	0.07362	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.46819	0.86;0.86;3.2	5.47	1.47	0.22746	.	1.705140	0.03176	N	0.171376	T	0.44519	0.1297	L	0.60455	1.87	0.09310	N	1	B;B	0.32829	0.267;0.386	B;B	0.33521	0.079;0.165	T	0.22417	-1.0217	9	.	.	.	-8.442	4.0535	0.09806	0.1483:0.1258:0.5963:0.1296	.	289;289	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	N	289;288;289	ENSP00000280082:K289N;ENSP00000451934:K288N;ENSP00000452252:K289N	.	K	+	3	2	MIA2;RP11-407N17.3	38786396	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.268000	0.18571	0.264000	0.21851	-0.188000	0.12872	AAG		0.408	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
MIA2	117153	broad.mit.edu	37	14	39722023	39722023	+	Missense_Mutation	SNP	G	G	T	rs10134365	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39722023G>T	ENST00000280082.3	+	5	1838	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.D547Y(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATCTTCTAAAGATAGTGATGA	0.368																																					p.D547Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1639T	14						.						85.0	94.0	91.0					14																	39722023		2203	4299	6502	38791774	SO:0001583	missense	117153	exon5			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1639G>T	14.37:g.39722023G>T	ENSP00000280082:p.Asp547Tyr		38791774	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770854	0.15983	.	.	ENSG00000150526	ENST00000280082	T	0.46819	0.86	4.81	-0.683	0.11335	.	0.655352	0.12592	N	0.455473	T	0.23451	0.0567	.	.	.	0.80722	P	0.0	P	0.36249	0.545	B	0.28916	0.096	T	0.18555	-1.0333	7	.	.	.	.	4.2613	0.10742	0.4232:0.193:0.3839:0.0	.	547	Q96PC5-2	.	Y	547	ENSP00000280082:D547Y	.	D	+	1	0	MIA2	38791774	0.010000	0.17322	0.513000	0.27749	0.256000	0.26092	0.925000	0.28791	0.295000	0.22570	-0.438000	0.05819	GAT		0.368	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
CTAGE5	4253	broad.mit.edu	37	14	39771362	39771362	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:39771362A>C	ENST00000280083.3	+	10	1139	c.825A>C	c.(823-825)aaA>aaC	p.K275N	CTAGE5_ENST00000556148.1_Missense_Mutation_p.K200N|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K195N|CTAGE5_ENST00000396158.2_Missense_Mutation_p.K280N|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K246N|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K263N|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K275N|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.K810N|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K275N|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K246N|CTAGE5_ENST00000396165.4_Missense_Mutation_p.K246N			O15320	CTGE5_HUMAN	CTAGE family, member 5	275					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.K275N(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TAAAGATGAAAGATTGGGCTG	0.378																																					p.K263N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A789C	14						.						173.0	159.0	164.0					14																	39771362		2203	4300	6503	38841113	SO:0001583	missense	4253	exon10			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.825A>C	14.37:g.39771362A>C	ENSP00000280083:p.Lys275Asn		38841113	NM_203354	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.899577	0.72754	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;D;T;D;D;T;D;T;D;D	0.81908	2.81;-1.55;2.67;-1.55;-1.55;-0.59;-1.55;-0.59;-1.55;-1.55	5.52	1.87	0.25490	.	.	.	.	.	T	0.81635	0.4864	L	0.56199	1.76	0.36214	D	0.85153	P;P;P;P;P;B	0.42941	0.794;0.582;0.673;0.582;0.526;0.428	P;P;P;B;B;B	0.48952	0.523;0.477;0.596;0.331;0.251;0.251	T	0.79669	-0.1707	8	.	.	.	.	7.776	0.29037	0.6619:0.0:0.3381:0.0	.	237;280;275;275;246;263	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	N	810;263;195;237;246;275;280;275;200;275;246	ENSP00000452252:K810N;ENSP00000343897:K263N;ENSP00000450869:K195N;ENSP00000379468:K246N;ENSP00000339286:K275N;ENSP00000379462:K280N;ENSP00000280083:K275N;ENSP00000452562:K200N;ENSP00000343912:K275N;ENSP00000450449:K246N	.	K	+	3	2	CTAGE5;RP11-407N17.3	38841113	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	1.415000	0.34748	0.369000	0.24510	0.528000	0.53228	AAA		0.378	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930	
FSCB	84075	broad.mit.edu	37	14	44973867	44973867	+	Missense_Mutation	SNP	G	G	A	rs201017166	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:44973867G>A	ENST00000340446.4	-	1	2615	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	775			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.S775L(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAAAACAACCGATCCTAATTT	0.418													G|||	4	0.000798722	0.003	0.0	5008	,	,		17064	0.0		0.0	False		,,,				2504	0.0				p.S775L												FSCB,breast,NS,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C2324T	14						.	G	LEU/SER	7,4399	12.9+/-30.5	0,7,2196	81.0	89.0	86.0		2324	2.3	0.0	14		86	0,8600		0,0,4300	yes	missense	FSCB	NM_032135.3	145	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	probably-damaging	775/826	44973867	7,12999	2203	4300	6503	44043617	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2324C>T	14.37:g.44973867G>A	ENSP00000344579:p.Ser775Leu		44043617	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552452	0.45487	0.001589	0.0	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14893	2.47	4.21	2.33	0.28932	.	.	.	.	.	T	0.25306	0.0615	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.60789	0.879	T	0.06607	-1.0817	9	0.59425	D	0.04	-2.1041	7.0569	0.25104	0.0952:0.0:0.7342:0.1706	.	775	Q5H9T9	FSCB_HUMAN	L	775;668	ENSP00000344579:S775L	ENSP00000344579:S775L	S	-	2	0	FSCB	44043617	0.008000	0.16893	0.001000	0.08648	0.012000	0.07955	1.101000	0.31037	0.516000	0.28340	0.430000	0.28490	TCG		0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
FSCB	84075	broad.mit.edu	37	14	44975050	44975050	+	Missense_Mutation	SNP	G	G	T	rs368327539		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:44975050G>T	ENST00000340446.4	-	1	1432	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	381	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.L381I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTTCACCAAGAAGCTCTACT	0.527																																					p.L381I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141A	14						.						87.0	100.0	96.0					14																	44975050		2203	4300	6503	44044800	SO:0001583	missense	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1141C>A	14.37:g.44975050G>T	ENSP00000344579:p.Leu381Ile		44044800	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	g	3.730	-0.055816	0.07362	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15718	2.4	3.87	-0.594	0.11664	.	.	.	.	.	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41360	-0.9513	9	0.17832	T	0.49	.	4.2796	0.10825	0.2239:0.3706:0.4055:0.0	.	381	Q5H9T9	FSCB_HUMAN	I	381	ENSP00000344579:L381I	ENSP00000344579:L381I	L	-	1	0	FSCB	44044800	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.579000	0.05834	0.068000	0.16574	0.558000	0.71614	CTT		0.527	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
C14orf28	122525	broad.mit.edu	37	14	45369915	45369915	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45369915C>A	ENST00000325192.3	+	2	552	c.277C>A	c.(277-279)Ctt>Att	p.L93I	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.L93I	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	93								p.L93I(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						AGACTGTTTTCTTTACTTAAT	0.343																																					p.L93I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277A	14						.						39.0	39.0	39.0					14																	45369915		2203	4300	6503	44439665	SO:0001583	missense	122525	exon2			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.277C>A	14.37:g.45369915C>A	ENSP00000326846:p.Leu93Ile		44439665	NM_001017923		Missense_Mutation	SNP	ENST00000325192.3	37	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369840	0.61624	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.33654	1.4;1.4	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	N	0.19112	0.55	0.58432	D	0.999998	D	0.67145	0.996	D	0.72625	0.978	T	0.48175	-0.9058	10	0.87932	D	0	.	18.0523	0.89353	0.0:1.0:0.0:0.0	.	93	Q4W4Y0	CN028_HUMAN	I	93	ENSP00000326846:L93I;ENSP00000451791:L93I	ENSP00000326846:L93I	L	+	1	0	C14orf28	44439665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.937000	0.99478	0.650000	0.86243	CTT		0.343	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923	
KLHL28	54813	broad.mit.edu	37	14	45414750	45414750	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45414750G>T	ENST00000396128.4	-	2	501	c.382C>A	c.(382-384)Ctt>Att	p.L128I	KLHL28_ENST00000355081.2_Missense_Mutation_p.L142I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	128								p.L128I(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGCTTTCAAGAAATGCACAA	0.398																																					p.L128I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382A	14						.						61.0	60.0	60.0					14																	45414750		2203	4300	6503	44484500	SO:0001583	missense	54813	exon2			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.382C>A	14.37:g.45414750G>T	ENSP00000379434:p.Leu128Ile		44484500	NM_017658	Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994768	0.74703	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500	T;T;T	0.81163	-1.46;-1.46;-1.46	5.7	5.7	0.88788	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.76433	2.335	0.49130	D	0.999751	D;D	0.89917	1.0;0.979	D;D	0.85130	0.997;0.973	D	0.90450	0.4438	10	0.87932	D	0	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	128;128	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	I	128;142;128	ENSP00000379434:L128I;ENSP00000347193:L142I;ENSP00000452061:L128I	ENSP00000347193:L142I	L	-	1	0	KLHL28	44484500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.997000	0.70646	2.696000	0.92011	0.655000	0.94253	CTT		0.398	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3		
FAM179B	23116	broad.mit.edu	37	14	45432099	45432099	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45432099C>A	ENST00000361577.3	+	1	689	c.475C>A	c.(475-477)Ctc>Atc	p.L159I	KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.L159I|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.L159I	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	159								p.L159I(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTTGCAACTTCTCTCGGACGT	0.562																																					p.L159I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475A	14						.						74.0	82.0	79.0					14																	45432099		2203	4300	6503	44501849	SO:0001583	missense	23116	exon1			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.475C>A	14.37:g.45432099C>A	ENSP00000355045:p.Leu159Ile		44501849	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859256	0.32884	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.72835	0.95;0.95;-0.69	4.64	3.74	0.42951	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.38058	N	0.001832	T	0.55970	0.1954	N	0.24115	0.695	0.37257	D	0.906835	B;B;B;B	0.25563	0.005;0.129;0.005;0.005	B;B;B;B	0.27608	0.027;0.081;0.017;0.017	T	0.60188	-0.7312	10	0.62326	D	0.03	-1.3755	9.8934	0.41304	0.2036:0.7964:0.0:0.0	.	159;159;159;159	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	I	159	ENSP00000355045:L159I;ENSP00000354917:L159I;ENSP00000371668:L159I	ENSP00000354917:L159I	L	+	1	0	FAM179B	44501849	0.989000	0.36119	0.997000	0.53966	0.912000	0.54170	1.367000	0.34204	1.155000	0.42497	0.655000	0.94253	CTC		0.562	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FAM179B	23116	broad.mit.edu	37	14	45513967	45513967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45513967G>T	ENST00000361577.3	+	13	4262	c.4048G>T	c.(4048-4050)Gaa>Taa	p.E1350*	FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Nonsense_Mutation_p.E1350*	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1350								p.E1350*(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAAGGCTGGTGAATCAAATAC	0.373																																					p.E1350X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4048T	14						.						93.0	91.0	92.0					14																	45513967		2203	4300	6503	44583717	SO:0001587	stop_gained	23116	exon13			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4048G>T	14.37:g.45513967G>T	ENSP00000355045:p.Glu1350*		44583717	NM_015091	Q68D66|Q6PG27	Nonsense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	42	9.576818	0.99210	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	.	.	.	5.83	5.83	0.93111	.	0.049138	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.3826	19.7306	0.96180	0.0:0.0:1.0:0.0	.	.	.	.	X	1350	.	ENSP00000354917:E1350X	E	+	1	0	FAM179B	44583717	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	7.617000	0.83032	2.755000	0.94549	0.650000	0.86243	GAA		0.373	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FAM179B	23116	broad.mit.edu	37	14	45514052	45514052	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45514052C>A	ENST00000361577.3	+	13	4347	c.4133C>A	c.(4132-4134)tCt>tAt	p.S1378Y	FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.S1378Y	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1378								p.S1378Y(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCAGTTGTTTCTCTTATCAAT	0.348																																					p.S1378Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4133A	14						.						76.0	73.0	74.0					14																	45514052		2202	4300	6502	44583802	SO:0001583	missense	23116	exon13			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4133C>A	14.37:g.45514052C>A	ENSP00000355045:p.Ser1378Tyr		44583802	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232225	0.79688	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.66280	2.11;-0.2	5.74	5.74	0.90152	Armadillo-type fold (1);	0.108809	0.64402	D	0.000004	T	0.73737	0.3625	L	0.59436	1.845	0.80722	D	1	P;D	0.58620	0.889;0.983	P;P	0.56278	0.528;0.795	T	0.75246	-0.3385	10	0.72032	D	0.01	-5.322	19.5147	0.95159	0.0:1.0:0.0:0.0	.	1378;1378	G3XAE9;Q9Y4F4	.;F179B_HUMAN	Y	1378	ENSP00000355045:S1378Y;ENSP00000354917:S1378Y	ENSP00000354917:S1378Y	S	+	2	0	FAM179B	44583802	1.000000	0.71417	0.983000	0.44433	0.662000	0.39071	7.027000	0.76463	2.708000	0.92522	0.650000	0.86243	TCT		0.348	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FKBP3	2287	broad.mit.edu	37	14	45590801	45590801	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45590801G>T	ENST00000216330.3	-	5	751	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	FKBP3_ENST00000396062.3_Missense_Mutation_p.S114Y			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	114					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.S114Y(1)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTCAGAACAGATTTAGTATA	0.348																																					p.S114Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341A	14						.						115.0	108.0	111.0					14																	45590801		2203	4300	6503	44660551	SO:0001583	missense	2287	exon4			M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.341C>A	14.37:g.45590801G>T	ENSP00000216330:p.Ser114Tyr		44660551	NM_002013	B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781162	0.90282	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.54479	0.57;0.57	6.17	6.17	0.99709	.	0.107184	0.64402	D	0.000003	T	0.60508	0.2274	L	0.55990	1.75	0.58432	D	0.999998	D	0.64830	0.994	P	0.52598	0.703	T	0.61178	-0.7115	10	0.62326	D	0.03	-16.4342	15.2238	0.73333	0.0:0.0:0.8594:0.1406	.	114	Q00688	FKBP3_HUMAN	Y	114	ENSP00000216330:S114Y;ENSP00000379374:S114Y	ENSP00000216330:S114Y	S	-	2	0	FKBP3	44660551	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.490000	0.81461	2.941000	0.99782	0.655000	0.94253	TCT		0.348	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013	
FANCM	57697	broad.mit.edu	37	14	45633685	45633685	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45633685C>T	ENST00000267430.5	+	10	1790	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	FANCM_ENST00000542564.2_Missense_Mutation_p.R543C|FANCM_ENST00000556036.1_Missense_Mutation_p.R569C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	569	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.R569C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAGCCCAATTCGTCTTGTACA	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R569C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1705T	14						.						82.0	81.0	81.0					14																	45633685		2203	4300	6503	44703435	SO:0001583	missense	57697	exon10	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1705C>T	14.37:g.45633685C>T	ENSP00000267430:p.Arg569Cys		44703435	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132035	0.94473	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.75821	-0.97;-0.97;-0.97	6.07	6.07	0.98685	Helicase, C-terminal (3);	0.104570	0.64402	D	0.000002	D	0.88969	0.6582	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89478	0.3748	10	0.87932	D	0	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	543;569;569	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	C	569;569;543	ENSP00000450596:R569C;ENSP00000267430:R569C;ENSP00000442493:R543C	ENSP00000267430:R569C	R	+	1	0	FANCM	44703435	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.478000	0.81082	2.885000	0.99019	0.655000	0.94253	CGT		0.433	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FANCM	57697	broad.mit.edu	37	14	45639895	45639895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45639895G>T	ENST00000267430.5	+	12	2191	c.2106G>T	c.(2104-2106)gaG>gaT	p.E702D	FANCM_ENST00000542564.2_Missense_Mutation_p.E676D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	702					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E702D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAATTAAAGAGATAACATTGC	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.E702D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2106T	14						.						70.0	77.0	75.0					14																	45639895		2203	4298	6501	44709645	SO:0001583	missense	57697	exon12	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2106G>T	14.37:g.45639895G>T	ENSP00000267430:p.Glu702Asp		44709645	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433029	0.25813	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.19806	2.73;2.73;2.12	5.35	0.378	0.16204	.	0.643007	0.16861	N	0.196540	T	0.12902	0.0313	L	0.43923	1.385	0.22213	N	0.999284	B;B	0.28512	0.214;0.105	B;B	0.19391	0.025;0.014	T	0.30416	-0.9979	10	0.17369	T	0.5	.	5.8733	0.18814	0.4478:0.0:0.4247:0.1275	.	676;702	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	D	702;676;218	ENSP00000267430:E702D;ENSP00000442493:E676D;ENSP00000452033:E218D	ENSP00000267430:E702D	E	+	3	2	FANCM	44709645	0.936000	0.31750	0.977000	0.42913	0.975000	0.68041	0.367000	0.20382	-0.105000	0.12132	0.561000	0.74099	GAG		0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FANCM	57697	broad.mit.edu	37	14	45645129	45645129	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45645129A>C	ENST00000267430.5	+	14	3257	c.3172A>C	c.(3172-3174)Aat>Cat	p.N1058H	FANCM_ENST00000542564.2_Missense_Mutation_p.N1032H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1058					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.N1058H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAAATGTATAAATTATCCATC	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.N1058H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3172C	14						.						23.0	23.0	23.0					14																	45645129		2201	4293	6494	44714879	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3172A>C	14.37:g.45645129A>C	ENSP00000267430:p.Asn1058His		44714879	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241234	0.22711	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.20332	2.68;2.68;2.08	4.8	4.8	0.61643	.	1.853160	0.02126	N	0.055972	T	0.35335	0.0928	L	0.40543	1.245	0.09310	N	1	P;D	0.55385	0.94;0.971	P;P	0.52710	0.564;0.707	T	0.38908	-0.9639	10	0.59425	D	0.04	.	12.9279	0.58270	1.0:0.0:0.0:0.0	.	1032;1058	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	H	1058;1032;574	ENSP00000267430:N1058H;ENSP00000442493:N1032H;ENSP00000452033:N574H	ENSP00000267430:N1058H	N	+	1	0	FANCM	44714879	0.045000	0.20229	0.003000	0.11579	0.006000	0.05464	2.949000	0.49074	2.091000	0.63221	0.482000	0.46254	AAT		0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
MIS18BP1	55320	broad.mit.edu	37	14	45686317	45686317	+	Missense_Mutation	SNP	T	T	A	rs141848005	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45686317T>A	ENST00000310806.4	-	13	3366	c.2908A>T	c.(2908-2910)Agg>Tgg	p.R970W		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	970					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R970W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTGCTTCCTTTTAAGAGTT	0.378																																					p.R970W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2908T	14						.						165.0	151.0	156.0					14																	45686317		2203	4300	6503	44756067	SO:0001583	missense	55320	exon13			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2908A>T	14.37:g.45686317T>A	ENSP00000309790:p.Arg970Trp		44756067	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930461	0.73327	.	.	ENSG00000129534	ENST00000310806	T	0.28895	1.59	5.09	0.912	0.19349	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.68317	2.08	0.47407	D	0.999415	D	0.89917	1.0	D	0.83275	0.996	T	0.55730	-0.8095	10	0.87932	D	0	-12.5808	12.2715	0.54708	0.0:0.0:0.4099:0.5901	.	970	Q6P0N0	M18BP_HUMAN	W	970	ENSP00000309790:R970W	ENSP00000309790:R970W	R	-	1	2	MIS18BP1	44756067	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.727000	0.38095	0.752000	0.32923	0.482000	0.46254	AGG		0.378	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MIS18BP1	55320	broad.mit.edu	37	14	45693534	45693534	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45693534C>A	ENST00000310806.4	-	11	2714	c.2256G>T	c.(2254-2256)aaG>aaT	p.K752N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	752					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K752N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTTCTATTTTCTTCAATTTTG	0.318																																					p.K752N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2256T	14						.						85.0	88.0	87.0					14																	45693534		2203	4300	6503	44763284	SO:0001583	missense	55320	exon11			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2256G>T	14.37:g.45693534C>A	ENSP00000309790:p.Lys752Asn		44763284	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	5.094	0.203012	0.09704	.	.	ENSG00000129534	ENST00000310806	T	0.28454	1.61	5.6	2.77	0.32553	.	0.566724	0.19693	N	0.108218	T	0.23054	0.0557	L	0.48362	1.52	0.09310	N	0.999993	B	0.20368	0.044	B	0.20384	0.029	T	0.19095	-1.0316	10	0.36615	T	0.2	-2.8096	4.7549	0.13078	0.1556:0.6133:0.15:0.0812	.	752	Q6P0N0	M18BP_HUMAN	N	752	ENSP00000309790:K752N	ENSP00000309790:K752N	K	-	3	2	MIS18BP1	44763284	0.296000	0.24398	0.035000	0.18076	0.028000	0.11728	0.293000	0.19029	0.400000	0.25396	0.655000	0.94253	AAG		0.318	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MIS18BP1	55320	broad.mit.edu	37	14	45693933	45693933	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45693933C>A	ENST00000310806.4	-	11	2315	c.1857G>T	c.(1855-1857)ttG>ttT	p.L619F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	619					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L619F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGGATACATCCAATTCTTCAG	0.289																																					p.L619F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1857T	14						.						49.0	49.0	49.0					14																	45693933		2201	4296	6497	44763683	SO:0001583	missense	55320	exon11			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1857G>T	14.37:g.45693933C>A	ENSP00000309790:p.Leu619Phe		44763683	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406359	0.25378	.	.	ENSG00000129534	ENST00000310806	T	0.20738	2.05	5.18	-5.31	0.02730	.	1.170610	0.06209	N	0.684682	T	0.09686	0.0238	N	0.24115	0.695	0.09310	N	1	B	0.30406	0.278	B	0.24701	0.055	T	0.33189	-0.9878	10	0.10111	T	0.7	4.3482	6.2983	0.21099	0.0:0.1939:0.2548:0.5513	.	619	Q6P0N0	M18BP_HUMAN	F	619	ENSP00000309790:L619F	ENSP00000309790:L619F	L	-	3	2	MIS18BP1	44763683	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-0.521000	0.06245	-0.770000	0.04614	0.591000	0.81541	TTG		0.289	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MIS18BP1	55320	broad.mit.edu	37	14	45716183	45716183	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:45716183T>G	ENST00000310806.4	-	2	765	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	103					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K103Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GCTTTATTTTTTAATCCATCC	0.323																																					p.K103Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A307C	14						.						99.0	99.0	99.0					14																	45716183		2203	4299	6502	44785933	SO:0001583	missense	55320	exon2			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.307A>C	14.37:g.45716183T>G	ENSP00000309790:p.Lys103Gln		44785933	NM_018353	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493525	0.44352	.	.	ENSG00000129534	ENST00000310806;ENST00000451174	T	0.22134	1.97	5.55	3.12	0.35913	.	0.732468	0.12921	N	0.428133	T	0.18718	0.0449	L	0.60455	1.87	0.09310	N	1	P	0.47841	0.901	B	0.40565	0.333	T	0.12760	-1.0535	10	0.26408	T	0.33	-10.0478	5.7828	0.18316	0.0:0.0867:0.1682:0.7451	.	103	Q6P0N0	M18BP_HUMAN	Q	103	ENSP00000309790:K103Q	ENSP00000309790:K103Q	K	-	1	0	MIS18BP1	44785933	0.034000	0.19679	0.035000	0.18076	0.732000	0.41865	0.653000	0.24902	0.371000	0.24564	-0.261000	0.10672	AAA		0.323	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		
MDGA2	161357	broad.mit.edu	37	14	47426586	47426586	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:47426586G>T	ENST00000399232.2	-	9	2237	c.1873C>A	c.(1873-1875)Ctt>Att	p.L625I	MDGA2_ENST00000426342.1_Missense_Mutation_p.L396I|MDGA2_ENST00000439988.3_Missense_Mutation_p.L694I|MDGA2_ENST00000357362.3_Missense_Mutation_p.L396I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	625	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L396I(2)|p.L694I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCTGTAACAAGAAAGCTGCAT	0.348																																					p.L396I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1186A	14						.						68.0	67.0	67.0					14																	47426586		1834	4087	5921	46496336	SO:0001583	missense	161357	exon9			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1873C>A	14.37:g.47426586G>T	ENSP00000382178:p.Leu625Ile		46496336	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	16.59	3.164718	0.57476	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46758	U	0.000279	T	0.52092	0.1713	L	0.57536	1.79	0.80722	D	1	B;B	0.29552	0.248;0.188	B;B	0.33121	0.098;0.158	T	0.47674	-0.9099	10	0.21014	T	0.42	.	17.3783	0.87398	0.0:0.0:1.0:0.0	.	396;625	F6W3S7;Q7Z553	.;MDGA2_HUMAN	I	625;396;694;396	ENSP00000400011:L625I;ENSP00000405456:L396I;ENSP00000382178:L694I;ENSP00000349925:L396I	ENSP00000349925:L396I	L	-	1	0	MDGA2	46496336	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.922000	0.70036	2.447000	0.82792	0.650000	0.86243	CTT		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
MDGA2	161357	broad.mit.edu	37	14	47426796	47426796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:47426796G>A	ENST00000399232.2	-	9	2027	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	MDGA2_ENST00000426342.1_Nonsense_Mutation_p.R326*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.R624*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.R326*|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	555	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R326*(2)|p.R624*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTGACACTTCGATCCTGTCCT	0.453																																					p.R326X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C976T	14						.						90.0	88.0	89.0					14																	47426796		1947	4156	6103	46496546	SO:0001587	stop_gained	161357	exon9			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1663C>T	14.37:g.47426796G>A	ENSP00000382178:p.Arg555*		46496546	NM_182830	F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	43	10.174959	0.99352	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.	.	.	5.32	3.41	0.39046	.	0.161338	0.28671	U	0.014537	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8644	0.57932	0.0:0.0:0.6936:0.3064	.	.	.	.	X	555;326;624;326	.	ENSP00000349925:R326X	R	-	1	2	MDGA2	46496546	0.997000	0.39634	0.996000	0.52242	0.972000	0.66771	2.587000	0.46128	0.557000	0.29117	-0.188000	0.12872	CGA		0.453	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
MDGA2	161357	broad.mit.edu	37	14	47530697	47530697	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:47530697G>T	ENST00000399232.2	-	7	1437	c.1073C>A	c.(1072-1074)tCt>tAt	p.S358Y	MDGA2_ENST00000426342.1_Missense_Mutation_p.S129Y|MDGA2_ENST00000439988.3_Missense_Mutation_p.S427Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.S129Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	358	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S129Y(2)|p.S427Y(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACTTGGCAAGATATTTTCAC	0.383																																					p.S129Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C386A	14						.						90.0	82.0	84.0					14																	47530697		1879	4095	5974	46600447	SO:0001583	missense	161357	exon7			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1073C>A	14.37:g.47530697G>T	ENSP00000382178:p.Ser358Tyr		46600447	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.849692	0.91277	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.51477	U	0.000088	T	0.82125	0.4969	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82536	-0.0408	10	0.72032	D	0.01	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	358	Q7Z553	MDGA2_HUMAN	Y	358;129;427;129	ENSP00000400011:S358Y;ENSP00000405456:S129Y;ENSP00000382178:S427Y;ENSP00000349925:S129Y	ENSP00000349925:S129Y	S	-	2	0	MDGA2	46600447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.852000	0.86927	2.832000	0.97577	0.655000	0.94253	TCT		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
DNAAF2	55172	broad.mit.edu	37	14	50092760	50092760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50092760C>A	ENST00000298292.8	-	3	2094	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	DNAAF2_ENST00000406043.3_Nonsense_Mutation_p.E624*|RP11-649E7.5_ENST00000555043.1_RNA	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	672					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.E163*(1)		kidney(1)|lung(4)	5						TTACTACATTCTTGCAACTGT	0.294																																					p.E624X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1870T	14						.						41.0	35.0	37.0					14																	50092760		2192	4281	6473	49162510	SO:0001587	stop_gained	55172	exon2			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2014G>T	14.37:g.50092760C>A	ENSP00000298292:p.Glu672*		49162510	NM_001083908	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Nonsense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	C	38	6.637698	0.97726	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	.	.	.	6.03	5.15	0.70609	.	0.413355	0.23197	N	0.050836	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.3791	0.49746	0.0:0.9174:0.0:0.0826	.	.	.	.	X	672;624	.	ENSP00000298292:E672X	E	-	1	0	DNAAF2	49162510	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	1.828000	0.39111	1.580000	0.49851	0.644000	0.83932	GAA		0.294	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1		
NEMF	9147	broad.mit.edu	37	14	50267191	50267191	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50267191C>A	ENST00000298310.5	-	23	2768	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D	NEMF_ENST00000546046.1_Missense_Mutation_p.E752D|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.E731D			O60524	NEMF_HUMAN	nuclear export mediator factor	773					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.E773D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AATTTAATGTCTCTTCCCCTT	0.358																																					p.E773D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2319T	14						.						141.0	124.0	130.0					14																	50267191		2203	4300	6503	49336941	SO:0001583	missense	9147	exon23			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2319G>T	14.37:g.50267191C>A	ENSP00000298310:p.Glu773Asp		49336941	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	9.084	1.000096	0.19121	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.47869	0.85;0.83;0.83;0.83	5.37	1.46	0.22682	.	0.260249	0.35838	N	0.002952	T	0.23249	0.0562	N	0.17082	0.46	0.23827	N	0.99673	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.0	T	0.20638	-1.0269	10	0.09843	T	0.71	-7.5381	5.6959	0.17855	0.0:0.5151:0.2637:0.2212	.	752;748;731;773	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	D	773;731;752;545;731	ENSP00000298310:E773D;ENSP00000438309:E731D;ENSP00000441016:E752D;ENSP00000452540:E731D	ENSP00000298310:E773D	E	-	3	2	NEMF	49336941	0.006000	0.16342	0.095000	0.20976	0.901000	0.52897	-0.148000	0.10219	0.005000	0.14708	-0.384000	0.06662	GAG		0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NEMF	9147	broad.mit.edu	37	14	50295945	50295945	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50295945C>A	ENST00000298310.5	-	13	1508	c.1059G>T	c.(1057-1059)atG>atT	p.M353I	NEMF_ENST00000546046.1_Missense_Mutation_p.M353I|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.M311I			O60524	NEMF_HUMAN	nuclear export mediator factor	353					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.M353I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTGTAGGTTCATTTCTATGA	0.363																																					p.M353I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1059T	14						.						125.0	119.0	121.0					14																	50295945		2203	4300	6503	49365695	SO:0001583	missense	9147	exon13			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1059G>T	14.37:g.50295945C>A	ENSP00000298310:p.Met353Ile		49365695	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	9.907	1.208401	0.22205	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.24	4.33	0.51752	Fibronectin-binding A, N-terminal (1);	0.078463	0.85682	N	0.000000	T	0.41719	0.1171	L	0.58428	1.81	0.80722	D	1	B;B;B;B;B	0.29085	0.232;0.057;0.232;0.232;0.078	B;B;B;B;B	0.30401	0.07;0.07;0.07;0.07;0.115	T	0.26326	-1.0106	10	0.33940	T	0.23	-9.5209	14.8875	0.70582	0.1525:0.8475:0.0:0.0	.	353;124;328;311;353	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	I	353;311;353;124;311	ENSP00000298310:M353I;ENSP00000438309:M311I;ENSP00000441016:M353I;ENSP00000452540:M311I	ENSP00000298310:M353I	M	-	3	0	NEMF	49365695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.485000	0.53208	1.160000	0.42584	0.591000	0.81541	ATG		0.363	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NEMF	9147	broad.mit.edu	37	14	50296099	50296099	+	Missense_Mutation	SNP	C	C	T	rs147568381	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50296099C>T	ENST00000298310.5	-	12	1440	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	NEMF_ENST00000546046.1_Missense_Mutation_p.E331K|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.E289K			O60524	NEMF_HUMAN	nuclear export mediator factor	331					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.E331K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AATCTGTTTTCGTGATCCTTT	0.333																																					p.E331K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	14						.	C	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	155.0	144.0	148.0		991	5.3	1.0	14	dbSNP_134	148	0,8600		0,0,4300	no	missense	NEMF	NM_004713.3	56	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	331/1077	50296099	4,13002	2203	4300	6503	49365849	SO:0001583	missense	9147	exon12			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.991G>A	14.37:g.50296099C>T	ENSP00000298310:p.Glu331Lys		49365849	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207097	0.58343	9.08E-4	0.0	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.34	5.34	0.76211	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.66378	2.025	0.80722	D	1	P;P;D;P;P	0.56521	0.764;0.782;0.976;0.882;0.833	B;B;P;B;B	0.52598	0.313;0.309;0.703;0.309;0.34	T	0.59279	-0.7484	10	0.37606	T	0.19	-25.3685	19.0478	0.93028	0.0:1.0:0.0:0.0	.	331;102;306;289;331	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	K	331;289;331;102;289	ENSP00000298310:E331K;ENSP00000438309:E289K;ENSP00000441016:E331K;ENSP00000452540:E289K	ENSP00000298310:E331K	E	-	1	0	NEMF	49365849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.391000	0.59652	2.506000	0.84524	0.585000	0.79938	GAA		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
C14orf183	196913	broad.mit.edu	37	14	50550393	50550393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50550393G>T	ENST00000305273.1	-	5	950	c.951C>A	c.(949-951)tgC>tgA	p.C317*	RP11-58E21.7_ENST00000556019.2_lincRNA|RP11-58E21.5_ENST00000603228.1_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	317								p.C317*(1)		endometrium(2)|large_intestine(2)|lung(3)	7						AATAAGAAGTGCACACATTTA	0.512																																					p.C317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C951A	14						.						65.0	71.0	69.0					14																	50550393		2005	4190	6195	49620143	SO:0001587	stop_gained	196913	exon5			AF390030	CCDS45101.1	14q21.3	2012-09-26			ENSG00000168260	ENSG00000168260			27285	protein-coding gene	gene with protein product							Standard	NM_001014830		Approved		uc010tqk.2	Q8WXQ3	OTTHUMG00000170858	ENST00000305273.1:c.951C>A	14.37:g.50550393G>T	ENSP00000303234:p.Cys317*		49620143	NM_001014830		Nonsense_Mutation	SNP	ENST00000305273.1	37	CCDS45101.1	.	.	.	.	.	.	.	.	.	.	G	7.762	0.705646	0.15172	.	.	ENSG00000168260	ENST00000305273	.	.	.	3.94	-0.368	0.12537	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.5423	0.22387	0.5183:0.0:0.4817:0.0	.	.	.	.	X	317	.	ENSP00000303234:C317X	C	-	3	2	C14orf183	49620143	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.039000	0.13884	-0.065000	0.13021	0.557000	0.71058	TGC		0.512	C14orf183-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000410705.1	NM_001014830	
SOS2	6655	broad.mit.edu	37	14	50626281	50626281	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50626281G>A	ENST00000216373.5	-	10	1994	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R541C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	574					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R574C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACTACAAAACGATATACTTCA	0.343																																					p.R574C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1720T	14						.						118.0	121.0	120.0					14																	50626281		2203	4300	6503	49696031	SO:0001583	missense	6655	exon10			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1720C>T	14.37:g.50626281G>A	ENSP00000216373:p.Arg574Cys		49696031	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984420	0.53934	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.32515	1.45;1.45	5.24	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);	0.048208	0.85682	N	0.000000	T	0.27967	0.0689	M	0.65975	2.015	0.80722	D	1	P;P;P	0.42357	0.777;0.777;0.607	B;B;B	0.28232	0.059;0.087;0.04	T	0.21075	-1.0256	10	0.54805	T	0.06	.	13.8915	0.63742	0.0737:0.0:0.9263:0.0	.	541;604;574	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	C	574;541	ENSP00000216373:R574C;ENSP00000445328:R541C	ENSP00000216373:R574C	R	-	1	0	SOS2	49696031	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.666000	0.61554	1.350000	0.45770	0.585000	0.79938	CGT		0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
SOS2	6655	broad.mit.edu	37	14	50626504	50626504	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50626504A>C	ENST00000216373.5	-	10	1771	c.1497T>G	c.(1495-1497)atT>atG	p.I499M	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.I466M	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	499	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I499M(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTATCACAAATTTGTATTT	0.353																																					p.I499M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1497G	14						.						84.0	84.0	84.0					14																	50626504		2203	4300	6503	49696254	SO:0001583	missense	6655	exon10			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1497T>G	14.37:g.50626504A>C	ENSP00000216373:p.Ile499Met		49696254	NM_006939	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.830570	0.50845	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.89810	-2.57;-2.57	5.87	1.14	0.20703	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.042154	0.85682	D	0.000000	D	0.91905	0.7437	M	0.83118	2.625	0.53005	D	0.999968	D;P;P	0.61697	0.99;0.949;0.607	D;P;P	0.65773	0.938;0.864;0.674	D	0.88057	0.2791	10	0.87932	D	0	.	3.1272	0.06411	0.2325:0.0846:0.5212:0.1618	.	466;529;499	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	M	499;466	ENSP00000216373:I499M;ENSP00000445328:I466M	ENSP00000216373:I499M	I	-	3	3	SOS2	49696254	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	0.922000	0.28734	-0.014000	0.14175	-0.248000	0.11899	ATT		0.353	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
ATP5S	27109	broad.mit.edu	37	14	50792367	50792367	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50792367A>C	ENST00000311459.7	+	5	954	c.574A>C	c.(574-576)Aga>Cga	p.R192R	ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_3'UTR|RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000554438.1_3'UTR	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	192					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.R192R(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TCCTGGAGTAAGAGAAAAAGA	0.299																																					p.R192R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A574C	14						.						119.0	126.0	124.0					14																	50792367		2203	4298	6501	49862117	SO:0001819	synonymous_variant	27109	exon5			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.574A>C	14.37:g.50792367A>C			49862117	NM_001003803	A8K1U3|D9N156|Q8WWX3|Q96F77	Intron	SNP	ENST00000311459.7	37	CCDS32075.1																																																																																				0.299	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1	NM_015684	
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50799011C>T	ENST00000395834.1	-	8	965	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	ATP5S_ENST00000358473.1_Intron|CDKL1_ENST00000216378.2_3'UTR	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	312					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R313Q(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418																																					p.R313Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G938A	14						.						285.0	278.0	280.0					14																	50799011		2203	4300	6503	49868761	SO:0001583	missense	8814	exon8			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.938G>A	14.37:g.50799011C>T	ENSP00000379176:p.Arg313Gln		49868761	NM_004196	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000395834.1	37	CCDS9699.1	.	.	.	.	.	.	.	.	.	.	C	6.829	0.522196	0.13066	.	.	ENSG00000100490	ENST00000395834	T	0.67171	-0.25	5.33	-1.19	0.09585	Protein kinase-like domain (1);	.	.	.	.	T	0.47600	0.1454	L	0.34521	1.04	0.46586	D	0.999114	B	0.02656	0.0	B	0.04013	0.001	T	0.14476	-1.0471	9	0.22109	T	0.4	.	6.9607	0.24595	0.0:0.5581:0.1076:0.3343	.	312	Q00532	CDKL1_HUMAN	Q	313	ENSP00000379176:R313Q	ENSP00000379176:R313Q	R	-	2	0	CDKL1	49868761	0.177000	0.23109	0.103000	0.21229	0.133000	0.20885	-0.075000	0.11431	-0.331000	0.08501	-1.000000	0.02509	CGA		0.418	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276872.2		
CDKL1	8814	broad.mit.edu	37	14	50862439	50862439	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:50862439G>A	ENST00000216378.2	-	2	795	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	CDKL1_ENST00000356146.1_5'UTR|RP11-247L20.3_ENST00000556713.1_lincRNA|CDKL1_ENST00000395834.1_Missense_Mutation_p.R51W	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R51W(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CGGATTTCCCGAAGGGCAATT	0.433																																					p.R51W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C151T	14						.						67.0	73.0	71.0					14																	50862439		2203	4300	6503	49932189	SO:0001583	missense	8814	exon1			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.151C>T	14.37:g.50862439G>A	ENSP00000216378:p.Arg51Trp		49932189	NM_004196	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37		.	.	.	.	.	.	.	.	.	.	G	17.54	3.416263	0.62511	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.53857	0.6;0.6	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.79470	0.4451	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.85794	0.1369	9	0.87932	D	0	.	16.5314	0.84361	0.0:0.0:1.0:0.0	.	240;50	Q00532-2;Q00532	.;CDKL1_HUMAN	W	51	ENSP00000379176:R51W;ENSP00000216378:R51W	ENSP00000216378:R51W	R	-	1	2	CDKL1	49932189	1.000000	0.71417	0.939000	0.37840	0.436000	0.31835	3.350000	0.52224	2.364000	0.80123	0.561000	0.74099	CGG		0.433	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1		
ATL1	51062	broad.mit.edu	37	14	51027015	51027015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:51027015G>A	ENST00000358385.6	+	1	273	c.32G>A	c.(31-33)tGg>tAg	p.W11*	ATL1_ENST00000441560.2_Nonsense_Mutation_p.W11*|ATL1_ENST00000556478.2_3'UTR|ATL1_ENST00000357032.3_Nonsense_Mutation_p.W11*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.W11*	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	11					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.W11*(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGAAACAGTTGGGGTGAGTAG	0.622																																					p.W11X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G32A	14						.						85.0	75.0	78.0					14																	51027015		2203	4300	6503	50096765	SO:0001587	stop_gained	51062	exon1			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.32G>A	14.37:g.51027015G>A	ENSP00000351155:p.Trp11*		50096765	NM_181598	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000358385.6	37	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	G	39	7.453586	0.98292	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000553509;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.3	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-3.8529	12.0309	0.53397	0.0:0.1738:0.8262:0.0	.	.	.	.	X	11	.	ENSP00000346522:W11X	W	+	2	0	ATL1	50096765	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	4.746000	0.62133	1.231000	0.43661	0.491000	0.48974	TGG		0.622	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2		
NIN	51199	broad.mit.edu	37	14	51223928	51223928	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:51223928C>T	ENST00000382041.3	-	18	4010	c.3820G>A	c.(3820-3822)Gat>Aat	p.D1274N	NIN_ENST00000530997.2_Missense_Mutation_p.D1274N|NIN_ENST00000382043.4_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.D1274N|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.D1274N|NIN_ENST00000453196.1_Missense_Mutation_p.D1274N	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1274					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D1280N(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGTGCCTCATCGTAGCGTGTC	0.448			T	PDGFRB	MPD																																p.D1274N			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3820A	14						.						170.0	172.0	171.0					14																	51223928		2203	4300	6503	50293678	SO:0001583	missense	51199	exon18			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3820G>A	14.37:g.51223928C>T	ENSP00000371472:p.Asp1274Asn		50293678	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.274|9.274	1.046302|1.046302	0.19748|0.19748	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08546|.	3.35;3.08;3.08;3.09|.	6.06|6.06	4.21|4.21	0.49690|0.49690	.|.	0.961738|.	0.08609|.	N|.	0.920279|.	T|T	0.41213|0.41213	0.1149|0.1149	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.56287|.	0.959;0.959;0.975;0.975|.	B;B;P;P|.	0.49528|.	0.375;0.229;0.56;0.614|.	T|T	0.25882|0.25882	-1.0119|-1.0119	10|5	0.26408|.	T|.	0.33|.	-0.3019|-0.3019	8.882|8.882	0.35380|0.35380	0.0:0.7422:0.1334:0.1244|0.0:0.7422:0.1334:0.1244	.|.	1280;1274;1274;1274|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	N|Q	1274;1257;1280;1274;1274;1274|764	ENSP00000245441:D1274N;ENSP00000371472:D1274N;ENSP00000324210:D1274N;ENSP00000412391:D1274N|.	ENSP00000245441:D1274N|.	D|R	-|-	1|2	0|0	NIN|NIN	50293678|50293678	0.035000|0.035000	0.19736|0.19736	0.005000|0.005000	0.12908|0.12908	0.003000|0.003000	0.03518|0.03518	2.182000|2.182000	0.42556|0.42556	1.557000|1.557000	0.49525|0.49525	-0.176000|-0.176000	0.13171|0.13171	GAT|CGA		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
NIN	51199	broad.mit.edu	37	14	51224741	51224741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:51224741G>A	ENST00000382041.3	-	18	3197	c.3007C>T	c.(3007-3009)Cga>Tga	p.R1003*	NIN_ENST00000530997.2_Nonsense_Mutation_p.R1003*|NIN_ENST00000382043.4_Intron|NIN_ENST00000245441.5_Nonsense_Mutation_p.R1003*|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.R1003*|NIN_ENST00000453196.1_Nonsense_Mutation_p.R1003*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1003					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R1009*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTCTTTCTCGATCTGCTGTC	0.458			T	PDGFRB	MPD																																p.R1003X			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3007T	14						.						131.0	131.0	131.0					14																	51224741		2203	4300	6503	50294491	SO:0001587	stop_gained	51199	exon18			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3007C>T	14.37:g.51224741G>A	ENSP00000371472:p.Arg1003*		50294491	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.245357|8.245357	0.98724|0.98724	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	.|.	.|.	.|.	5.33|5.33	4.35|4.35	0.52113|0.52113	.|.	1.089110|.	0.06954|.	N|.	0.815090|.	.|T	.|0.51449	.|0.1675	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60131	.|-0.7323	.|3	0.02654|.	T|.	1|.	0.0741|0.0741	8.9599|8.9599	0.35840|0.35840	0.0:0.2239:0.569:0.2071|0.0:0.2239:0.569:0.2071	.|.	.|.	.|.	.|.	X|L	1003;986;1009;1003;1003;1003|493	.|.	ENSP00000245441:R1003X|.	R|S	-|-	1|2	2|0	NIN|NIN	50294491|50294491	0.074000|0.074000	0.21230|0.21230	0.298000|0.298000	0.25002|0.25002	0.688000|0.688000	0.40055|0.40055	1.178000|1.178000	0.31981|0.31981	2.492000|2.492000	0.84095|0.84095	0.563000|0.563000	0.77884|0.77884	CGA|TCG		0.458	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
NIN	51199	broad.mit.edu	37	14	51225321	51225321	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:51225321T>G	ENST00000382041.3	-	18	2617	c.2427A>C	c.(2425-2427)agA>agC	p.R809S	NIN_ENST00000530997.2_Missense_Mutation_p.R809S|NIN_ENST00000382043.4_Intron|NIN_ENST00000245441.5_Missense_Mutation_p.R809S|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.R809S|NIN_ENST00000453196.1_Missense_Mutation_p.R809S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	809				R -> I (in Ref. 1; AAF23015). {ECO:0000305}.	centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R815S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GAGAGGTTCTTCTATTACACT	0.438			T	PDGFRB	MPD																																p.R809S			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2427C	14						.						43.0	45.0	44.0					14																	51225321		2203	4300	6503	50295071	SO:0001583	missense	51199	exon18			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2427A>C	14.37:g.51225321T>G	ENSP00000371472:p.Arg809Ser		50295071	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.06|19.06	3.754836|3.754836	0.69648|0.69648	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T	.|0.08370	.|3.37;3.1;3.1;3.11	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.250293	.|0.47093	.|D	.|0.000254	T|T	0.26122|0.26122	0.0637|0.0637	M|M	0.69823|0.69823	2.125|2.125	0.33873|0.33873	D|D	0.63517|0.63517	.|D;D;D;D	.|0.89917	.|0.995;0.999;1.0;0.996	.|D;D;D;D	.|0.83275	.|0.939;0.964;0.996;0.99	T|T	0.30149|0.30149	-0.9988|-0.9988	5|10	.|0.13853	.|T	.|0.58	-8.8613|-8.8613	15.5264|15.5264	0.75910|0.75910	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|815;809;809;809	.|Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7	.|.;.;NIN_HUMAN;.	Q|S	300|809;792;815;809;809;809	.|ENSP00000245441:R809S;ENSP00000371472:R809S;ENSP00000324210:R809S;ENSP00000412391:R809S	.|ENSP00000245441:R809S	K|R	-|-	1|3	0|2	NIN|NIN	50295071|50295071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.698000|3.698000	0.54771|0.54771	2.261000|2.261000	0.74972|0.74972	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.438	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
NIN	51199	broad.mit.edu	37	14	51228517	51228517	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:51228517G>A	ENST00000382041.3	-	16	2077	c.1887C>T	c.(1885-1887)ctC>ctT	p.L629L	NIN_ENST00000530997.2_Silent_p.L629L|NIN_ENST00000382043.4_Silent_p.L629L|NIN_ENST00000245441.5_Silent_p.L629L|NIN_ENST00000389868.3_Silent_p.L629L|NIN_ENST00000324330.9_Silent_p.L629L|NIN_ENST00000453196.1_Silent_p.L629L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	629					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.L635L(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTTATCTTCGAGCTCCAGTC	0.413			T	PDGFRB	MPD																																p.L629L			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1887T	14						.						306.0	263.0	278.0					14																	51228517		2203	4300	6503	50298267	SO:0001819	synonymous_variant	51199	exon16			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1887C>T	14.37:g.51228517G>A			50298267	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	2.090	-0.408650	0.04832	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.48	-3.08	0.05347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.7406	10.3	0.43646	0.3749:0.5248:0.1002:0.0	.	.	.	.	X	120	.	.	R	-	1	2	NIN	50298267	0.963000	0.33076	0.967000	0.41034	0.272000	0.26649	0.042000	0.13949	-0.853000	0.04136	-0.886000	0.02939	CGA		0.413	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
FRMD6	122786	broad.mit.edu	37	14	52182060	52182060	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:52182060T>G	ENST00000344768.5	+	10	1063	c.867T>G	c.(865-867)atT>atG	p.I289M	FRMD6_ENST00000554167.1_Missense_Mutation_p.I212M|FRMD6_ENST00000356218.4_Missense_Mutation_p.I281M|FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000395718.2_Missense_Mutation_p.I281M			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	289	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I281M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AATTTGAGATTTTGCCAGATG	0.473																																					p.I281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T843G	14						.						51.0	53.0	53.0					14																	52182060		2203	4300	6503	51251810	SO:0001583	missense	122786	exon10			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.867T>G	14.37:g.52182060T>G	ENSP00000343899:p.Ile289Met		51251810	NM_152330	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131800	0.56828	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	5.96	2.39	0.29439	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	M	0.72479	2.2	0.80722	D	1	D;P;P	0.54047	0.964;0.933;0.684	P;P;P	0.53102	0.596;0.718;0.477	D	0.90007	0.4118	10	0.62326	D	0.03	.	7.8683	0.29549	0.0:0.3792:0.0:0.6208	.	212;289;281	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	M	281;281;289;212;19	ENSP00000348550:I281M;ENSP00000379068:I281M;ENSP00000343899:I289M;ENSP00000451977:I212M;ENSP00000451157:I19M	ENSP00000343899:I289M	I	+	3	3	FRMD6	51251810	0.999000	0.42202	0.999000	0.59377	0.929000	0.56500	0.626000	0.24492	0.177000	0.19895	-0.250000	0.11733	ATT		0.473	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
FRMD6	122786	broad.mit.edu	37	14	52194667	52194667	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:52194667G>T	ENST00000344768.5	+	14	1985	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	FRMD6_ENST00000554167.1_Missense_Mutation_p.D520Y|FRMD6_ENST00000356218.4_Missense_Mutation_p.D589Y|FRMD6_ENST00000553556.1_Missense_Mutation_p.D239Y|FRMD6_ENST00000395718.2_Missense_Mutation_p.D589Y			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	597					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.D589Y(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CAACATCCAAGATGCTTTTCC	0.468																																					p.D589Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1765T	14						.						111.0	93.0	99.0					14																	52194667		2203	4300	6503	51264417	SO:0001583	missense	122786	exon14			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1789G>T	14.37:g.52194667G>T	ENSP00000343899:p.Asp597Tyr		51264417	NM_152330	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797287	0.50208	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	T;T;T;T	0.78364	-1.17;-1.17;-0.94;-0.75	5.96	5.96	0.96718	.	0.236589	0.42964	D	0.000630	T	0.64416	0.2596	N	0.08118	0	0.31998	N	0.603796	B;B;B	0.32526	0.374;0.004;0.23	B;B;B	0.30495	0.116;0.002;0.116	T	0.70428	-0.4874	10	0.62326	D	0.03	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	520;597;589	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Y	589;589;597;520;239	ENSP00000348550:D589Y;ENSP00000379068:D589Y;ENSP00000343899:D597Y;ENSP00000451977:D520Y	ENSP00000343899:D597Y	D	+	1	0	FRMD6	51264417	1.000000	0.71417	0.914000	0.36105	0.986000	0.74619	4.065000	0.57513	2.832000	0.97577	0.655000	0.94253	GAT		0.468	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330	
C14orf166	51637	broad.mit.edu	37	14	52460480	52460480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:52460480C>T	ENST00000261700.3	+	3	391	c.226C>T	c.(226-228)Cga>Tga	p.R76*	C14orf166_ENST00000556760.1_Nonsense_Mutation_p.R76*	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	76					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.R76*(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					GATTCAAGATCGACAAGAAGC	0.368																																					p.R76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	14						.						144.0	125.0	132.0					14																	52460480		2203	4300	6503	51530230	SO:0001587	stop_gained	51637	exon3			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.226C>T	14.37:g.52460480C>T	ENSP00000261700:p.Arg76*		51530230	NM_016039		Nonsense_Mutation	SNP	ENST00000261700.3	37	CCDS9705.1	.	.	.	.	.	.	.	.	.	.	C	37	6.372309	0.97515	.	.	ENSG00000087302	ENST00000261700;ENST00000556760;ENST00000553362	.	.	.	5.53	5.53	0.82687	.	0.103982	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-15.3485	19.4167	0.94704	0.0:1.0:0.0:0.0	.	.	.	.	X	76;76;13	.	ENSP00000261700:R76X	R	+	1	2	C14orf166	51530230	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.982000	0.49337	2.775000	0.95449	0.650000	0.86243	CGA		0.368	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039	
PTGDR	5729	broad.mit.edu	37	14	52741531	52741531	+	Missense_Mutation	SNP	G	G	A	rs143143539		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:52741531G>A	ENST00000306051.2	+	2	1031	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	310					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.R310Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGAGCCTTGCGATTTCTATCT	0.378																																					p.R310Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929A	14						.						94.0	88.0	90.0					14																	52741531		2203	4300	6503	51811281	SO:0001583	missense	5729	exon2			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.929G>A	14.37:g.52741531G>A	ENSP00000303424:p.Arg310Gln		51811281	NM_000953	G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	CCDS9707.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.93	3.728383	0.69074	.	.	ENSG00000168229	ENST00000306051	T	0.72167	-0.63	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000157	D	0.84723	0.5535	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85948	0.1462	10	0.72032	D	0.01	-6.3795	18.2013	0.89839	0.0:0.0:1.0:0.0	.	310	Q13258	PD2R_HUMAN	Q	310	ENSP00000303424:R310Q	ENSP00000303424:R310Q	R	+	2	0	PTGDR	51811281	1.000000	0.71417	0.893000	0.35052	0.068000	0.16541	5.443000	0.66581	2.814000	0.96858	0.655000	0.94253	CGA		0.378	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953	
TXNDC16	57544	broad.mit.edu	37	14	52955142	52955142	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:52955142A>C	ENST00000281741.4	-	12	1418	c.1047T>G	c.(1045-1047)aaT>aaG	p.N349K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	349					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)		p.N349K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTGCATATTATTTTCCACAT	0.333																																					p.N349K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1047G	14						.						139.0	119.0	126.0					14																	52955142		2203	4300	6503	52024892	SO:0001583	missense	57544	exon12			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1047T>G	14.37:g.52955142A>C	ENSP00000281741:p.Asn349Lys		52024892	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042423	0.19748	.	.	ENSG00000087301	ENST00000281741	T	0.16324	2.35	5.49	3.14	0.36123	Thioredoxin-like fold (1);	0.537462	0.21501	N	0.073533	T	0.12135	0.0295	L	0.41236	1.265	0.23950	N	0.996379	B;B	0.14438	0.01;0.005	B;B	0.09377	0.004;0.003	T	0.33189	-0.9878	10	0.19590	T	0.45	-22.0169	7.1831	0.25784	0.821:0.0:0.179:0.0	.	344;349	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	349	ENSP00000281741:N349K	ENSP00000281741:N349K	N	-	3	2	TXNDC16	52024892	0.126000	0.22350	0.535000	0.28026	0.517000	0.34286	0.506000	0.22658	0.381000	0.24851	0.455000	0.32223	AAT		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	
GPR137C	283554	broad.mit.edu	37	14	53066894	53066894	+	Silent	SNP	C	C	T	rs200637280		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53066894C>T	ENST00000321662.6	+	3	552	c.552C>T	c.(550-552)tgC>tgT	p.C184C		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	184						integral component of membrane (GO:0016021)		p.C184C(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACTTGACTTGCGCAATGCTAG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		16532	0.001		0.0	False		,,,				2504	0.0				p.C184C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	14						.						222.0	197.0	204.0					14																	53066894		1867	4111	5978	52136644	SO:0001819	synonymous_variant	283554	exon3			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.552C>T	14.37:g.53066894C>T			52136644	NM_001099652	Q86SM2	Silent	SNP	ENST00000321662.6	37	CCDS45106.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	8.151|8.151	0.787421|0.787421	0.16258|0.16258	.|.	.|.	ENSG00000180998|ENSG00000180998	ENST00000555622|ENST00000542169	.|.	.|.	.|.	5.41|5.41	3.03|3.03	0.35002|0.35002	.|.	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51880|0.51880	-0.8649|-0.8649	4|4	.|.	.|.	.|.	-35.554|-35.554	9.1975|9.1975	0.37237|0.37237	0.0:0.2094:0.0:0.7906|0.0:0.2094:0.0:0.7906	.|.	.|.	.|.	.|.	V|C	116|138	.|.	.|.	A|R	+|+	2|1	0|0	GPR137C|GPR137C	52136644|52136644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.352000|1.352000	0.34033|0.34033	0.426000|0.426000	0.26116|0.26116	-0.383000|-0.383000	0.06682|0.06682	GCG|CGC		0.363	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411685.1	XM_290615	
ERO1L	30001	broad.mit.edu	37	14	53124725	53124725	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53124725G>T	ENST00000395686.3	-	11	941	c.718C>A	c.(718-720)Ctc>Atc	p.L240I		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	240					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.L240I(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TCTACACAGAGACCTAAGAAA	0.303																																					p.L240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718A	14						.						74.0	73.0	73.0					14																	53124725		2202	4297	6499	52194475	SO:0001583	missense	30001	exon11			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.718C>A	14.37:g.53124725G>T	ENSP00000379042:p.Leu240Ile		52194475	NM_014584	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252331	0.39797	.	.	ENSG00000197930	ENST00000395686	T	0.44083	0.93	5.89	5.0	0.66597	.	0.122224	0.56097	D	0.000028	T	0.57095	0.2030	M	0.80508	2.5	0.44660	D	0.997643	P	0.46142	0.873	P	0.52189	0.692	T	0.62511	-0.6839	10	0.66056	D	0.02	-10.4509	11.5193	0.50541	0.0699:0.1338:0.7963:0.0	.	240	Q96HE7	ERO1A_HUMAN	I	240	ENSP00000379042:L240I	ENSP00000379042:L240I	L	-	1	0	ERO1L	52194475	0.987000	0.35691	0.891000	0.34965	0.753000	0.42808	1.950000	0.40323	1.485000	0.48380	0.655000	0.94253	CTC		0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584	
PSMC6	5706	broad.mit.edu	37	14	53175094	53175094	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53175094G>A	ENST00000606149.1	+	2	169	c.153G>A	c.(151-153)caG>caA	p.Q51Q	PSMC6_ENST00000445930.2_Silent_p.Q65Q	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.Q51Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AGGCCCTACAGAGTGTTGGGC	0.343																																					p.Q65Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	14						.						133.0	131.0	132.0					14																	53175094		2203	4300	6503	52244844	SO:0001819	synonymous_variant	5706	exon2				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.153G>A	14.37:g.53175094G>A			52244844	NM_002806	B2R975|P49719|Q6IBU3|Q92524	Silent	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	G	6.166	0.398850	0.11696	.	.	ENSG00000100519	ENST00000556813	.	.	.	5.17	0.207	0.15214	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51196	-0.8736	4	.	.	.	.	9.6137	0.39679	0.5312:0.0:0.4688:0.0	.	.	.	.	K	51	.	.	E	+	1	0	PSMC6	52244844	0.953000	0.32496	1.000000	0.80357	0.799000	0.45148	0.134000	0.15932	0.067000	0.16545	-1.317000	0.01298	GAG		0.343	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	
PSMC6	5706	broad.mit.edu	37	14	53185004	53185004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53185004G>T	ENST00000606149.1	+	9	665	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	PSMC6_ENST00000445930.2_Nonsense_Mutation_p.E231*	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	217					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.E217*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTTGATCAGAGAAATGTTTAA	0.313																																					p.E231X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G691T	14						.						100.0	104.0	103.0					14																	53185004		2203	4300	6503	52254754	SO:0001587	stop_gained	5706	exon9				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.649G>T	14.37:g.53185004G>T	ENSP00000475721:p.Glu217*		52254754	NM_002806	B2R975|P49719|Q6IBU3|Q92524	Nonsense_Mutation	SNP	ENST00000606149.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.499364|4.499364	0.85069|0.85069	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000555339;ENST00000556813	.|D;D	.|0.94232	.|-3.38;-3.38	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|D	.|0.95903	.|0.8666	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95309	.|0.8410	.|4	0.87932|.	D|.	0|.	.|.	18.7228|18.7228	0.91702|0.91702	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	231|177;216	.|ENSP00000452048:R177I;ENSP00000451156:R216I	ENSP00000401802:E231X|.	E|R	+|+	1|2	0|0	PSMC6|PSMC6	52254754|52254754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.435000|9.435000	0.97529|0.97529	2.503000|2.503000	0.84419|0.84419	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.313	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	
PSMC6	5706	broad.mit.edu	37	14	53185747	53185747	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53185747G>A	ENST00000606149.1	+	10	784	c.768G>A	c.(766-768)acG>acA	p.T256T	PSMC6_ENST00000445930.2_Silent_p.T270T	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	256					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.T256T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTCAGAGAACGTTAATGGAGG	0.333																																					p.T270T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810A	14						.						103.0	105.0	104.0					14																	53185747		2203	4300	6503	52255497	SO:0001819	synonymous_variant	5706	exon10				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.768G>A	14.37:g.53185747G>A			52255497	NM_002806	B2R975|P49719|Q6IBU3|Q92524	Silent	SNP	ENST00000606149.1	37																																																																																					0.333	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	
PSMC6	5706	broad.mit.edu	37	14	53194240	53194240	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53194240C>A	ENST00000606149.1	+	14	1091	c.1075C>A	c.(1075-1077)Cat>Aat	p.H359N	PSMC6_ENST00000445930.2_Missense_Mutation_p.H373N|PSMC6_ENST00000557557.1_3'UTR|STYX_ENST00000442123.2_5'Flank|STYX_ENST00000354586.4_5'Flank	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	359					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)	p.H359N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TCGTGCTGATCATGATTTTGT	0.323																																					p.H373N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1117A	14						.						61.0	58.0	59.0					14																	53194240		2203	4300	6503	52263990	SO:0001583	missense	5706	exon14				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.1075C>A	14.37:g.53194240C>A	ENSP00000475721:p.His359Asn		52263990	NM_002806	B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919574	0.52653	.	.	ENSG00000100519	ENST00000445930	D	0.94687	-3.49	5.3	5.3	0.74995	.	0.096164	0.64402	D	0.000001	D	0.89743	0.6803	N	0.12443	0.215	0.47994	D	0.99956	B	0.09022	0.002	B	0.16722	0.016	D	0.85139	0.0979	10	0.87932	D	0	.	19.3235	0.94252	0.0:1.0:0.0:0.0	.	359	P62333	PRS10_HUMAN	N	373	ENSP00000401802:H373N	ENSP00000401802:H373N	H	+	1	0	PSMC6	52263990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.526000	0.53509	2.627000	0.88993	0.650000	0.86243	CAT		0.323	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	
STYX	6815	broad.mit.edu	37	14	53224469	53224469	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53224469C>A	ENST00000354586.4	+	7	642	c.349C>A	c.(349-351)Ctt>Att	p.L117I	STYX_ENST00000442123.2_Missense_Mutation_p.L117I|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318																																					p.L117I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349A	14						.						69.0	74.0	72.0					14																	53224469		2203	4295	6498	52294219	SO:0001583	missense	6815	exon7				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.349C>A	14.37:g.53224469C>A	ENSP00000346599:p.Leu117Ile		52294219	NM_145251	B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963730	0.92791	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.69040	-0.37;-0.37	5.58	5.58	0.84498	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89824	0.3991	10	0.87932	D	0	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	117	Q8WUJ0	STYX_HUMAN	I	117	ENSP00000403214:L117I;ENSP00000346599:L117I	ENSP00000346599:L117I	L	+	1	0	STYX	52294219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.628000	0.74262	2.779000	0.95612	0.650000	0.86243	CTT		0.318	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251	
DDHD1	80821	broad.mit.edu	37	14	53513548	53513548	+	Missense_Mutation	SNP	A	A	C	rs570950752		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53513548A>C	ENST00000323669.5	-	13	2640	c.2641T>G	c.(2641-2643)Tta>Gta	p.L881V	DDHD1_ENST00000395606.1_Missense_Mutation_p.L860V|DDHD1_ENST00000357758.3_Missense_Mutation_p.L853V|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	881	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L853V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGAAGGTTAAAAGAAAAAGG	0.418																																					p.L881V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2641G	14						.						148.0	130.0	136.0					14																	53513548		2203	4300	6503	52583298	SO:0001583	missense	80821	exon13			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2641T>G	14.37:g.53513548A>C	ENSP00000327104:p.Leu881Val		52583298	NM_001160148	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.515119	0.64634	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	4.78	0.61160	DDHD (2);	0.067206	0.64402	D	0.000008	T	0.67287	0.2877	L	0.56199	1.76	0.46564	D	0.999105	P;D;P	0.76494	0.867;0.999;0.812	P;D;P	0.91635	0.599;0.999;0.61	T	0.67381	-0.5685	9	0.56958	D	0.05	-12.5545	6.4429	0.21859	0.7169:0.0:0.2831:0.0	.	860;881;853	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	V	881;860;853;752	.	ENSP00000327104:L881V	L	-	1	2	DDHD1	52583298	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	2.630000	0.46494	1.067000	0.40740	0.459000	0.35465	TTA		0.418	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
DDHD1	80821	broad.mit.edu	37	14	53529665	53529665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:53529665G>A	ENST00000323669.5	-	7	1761	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.R595*|DDHD1_ENST00000357758.3_Nonsense_Mutation_p.R588*	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	588					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R588*(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTTTACCGTCGTTTAGTTATA	0.333																																					p.R588X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1762T	14						.						75.0	70.0	72.0					14																	53529665		2203	4300	6503	52599415	SO:0001587	stop_gained	80821	exon7			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1762C>T	14.37:g.53529665G>A	ENSP00000327104:p.Arg588*		52599415	NM_001160148	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741976	0.89573	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.47	4.54	0.55810	.	0.436137	0.24242	N	0.040260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.3058	0.66384	0.0:0.0:0.8503:0.1496	.	.	.	.	X	588;595;588;459	.	ENSP00000327104:R588X	R	-	1	2	DDHD1	52599415	0.866000	0.29940	0.100000	0.21137	0.027000	0.11550	3.740000	0.55082	1.210000	0.43336	0.585000	0.79938	CGA		0.333	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
GMFB	2764	broad.mit.edu	37	14	54947636	54947636	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:54947636C>A	ENST00000358056.3	-	5	507	c.239G>T	c.(238-240)gGa>gTa	p.G80V	GMFB_ENST00000554908.1_3'UTR|GMFB_ENST00000553566.1_5'Flank	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	80	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)	p.G80V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						TGAAACTCTTCCATCATCATG	0.328																																					p.G80V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239T	14						.						79.0	80.0	80.0					14																	54947636		2203	4300	6503	54017386	SO:0001583	missense	2764	exon5			M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.239G>T	14.37:g.54947636C>A	ENSP00000350757:p.Gly80Val		54017386	NM_004124	B2R499|P17774|Q9BS35	Missense_Mutation	SNP	ENST00000358056.3	37	CCDS9718.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745341	0.89663	.	.	ENSG00000197045	ENST00000358056;ENST00000354747;ENST00000553333	T;T	0.37058	1.22;1.22	5.62	5.62	0.85841	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80144	-0.1505	10	0.87932	D	0	-0.3217	20.0377	0.97569	0.0:1.0:0.0:0.0	.	80	P60983	GMFB_HUMAN	V	80;80;93	ENSP00000350757:G80V;ENSP00000451920:G93V	ENSP00000346789:G80V	G	-	2	0	GMFB	54017386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.297000	0.78799	2.822000	0.97130	0.650000	0.86243	GGA		0.328	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124	
SAMD4A	23034	broad.mit.edu	37	14	55203947	55203947	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55203947C>T	ENST00000554335.1	+	4	1584	c.921C>T	c.(919-921)caC>caT	p.H307H	SAMD4A_ENST00000357634.3_Silent_p.H306H|SAMD4A_ENST00000392067.3_Silent_p.H307H|SAMD4A_ENST00000251091.5_Intron			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	307					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.H306H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GGAGTGAACACTTAGAAGATC	0.522																																					p.H306H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C918T	14						.						158.0	140.0	146.0					14																	55203947		2203	4300	6503	54273697	SO:0001819	synonymous_variant	23034	exon3			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.921C>T	14.37:g.55203947C>T			54273697	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T	rs201991552	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55226887C>T	ENST00000554335.1	+	7	1848	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000251091.5_Silent_p.I307I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		15963	0.0069		0.0	False		,,,				2504	0.0				p.I394I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1182T	14						.						100.0	112.0	108.0					14																	55226887		2187	4267	6454	54296637	SO:0001819	synonymous_variant	23034	exon6			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1185C>T	14.37:g.55226887C>T			54296637	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	CCDS32084.2																																																																																				0.632	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
SAMD4A	23034	broad.mit.edu	37	14	55236927	55236927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55236927C>T	ENST00000554335.1	+	9	2365	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	SAMD4A_ENST00000357634.3_Nonsense_Mutation_p.R567*|SAMD4A_ENST00000392067.3_Nonsense_Mutation_p.R568*|SAMD4A_ENST00000555192.1_Nonsense_Mutation_p.R159*|SAMD4A_ENST00000251091.5_Nonsense_Mutation_p.R480*			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	568					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.R567*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						ATCAGGATATCGACAGCAAAG	0.463																																					p.R567X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1699T	14						.						151.0	146.0	148.0					14																	55236927		2203	4300	6503	54306677	SO:0001587	stop_gained	23034	exon8			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1702C>T	14.37:g.55236927C>T	ENSP00000452535:p.Arg568*		54306677	NM_015589	A8MPZ5|Q0VA96|Q6PEW4	Nonsense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	39	7.355319	0.98231	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.42	5.42	0.78866	.	0.075963	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8228	19.2111	0.93755	0.0:1.0:0.0:0.0	.	.	.	.	X	568;568;480;479;567;159	.	ENSP00000251091:R197X	R	+	1	2	SAMD4A	54306677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.585000	0.67497	2.551000	0.86045	0.462000	0.41574	CGA		0.463	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589	
WDHD1	11169	broad.mit.edu	37	14	55422389	55422389	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55422389C>A	ENST00000360586.3	-	24	3005	c.2940G>T	c.(2938-2940)caG>caT	p.Q980H	WDHD1_ENST00000420358.2_Missense_Mutation_p.Q857H|WDHD1_ENST00000421192.1_Missense_Mutation_p.Q857H|WDHD1_ENST00000359167.4_Missense_Mutation_p.Q498H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	980					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.Q980H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AATTTCTTTTCTGGAAATAGG	0.303																																					p.Q980H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2940T	14						.						70.0	70.0	70.0					14																	55422389		2203	4295	6498	54492139	SO:0001583	missense	11169	exon24			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2940G>T	14.37:g.55422389C>A	ENSP00000353793:p.Gln980His		54492139	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463786	0.26335	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.62941	0.35;0.83;-0.01	4.71	0.721	0.18219	.	0.261750	0.33057	N	0.005332	T	0.37433	0.1003	N	0.24115	0.695	0.36841	D	0.887414	B;P	0.35527	0.241;0.507	B;B	0.29524	0.103;0.098	T	0.24368	-1.0162	10	0.52906	T	0.07	.	4.2076	0.10497	0.0:0.5345:0.1771:0.2885	.	498;980	F8W7P7;O75717	.;WDHD1_HUMAN	H	980;498;857	ENSP00000353793:Q980H;ENSP00000352085:Q498H;ENSP00000391049:Q857H	ENSP00000352085:Q498H	Q	-	3	2	WDHD1	54492139	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	0.661000	0.25023	0.267000	0.21916	0.563000	0.77884	CAG		0.303	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
WDHD1	11169	broad.mit.edu	37	14	55448379	55448379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55448379G>A	ENST00000360586.3	-	16	2007	c.1942C>T	c.(1942-1944)Cga>Tga	p.R648*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.R525*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.R525*|WDHD1_ENST00000359167.4_Nonsense_Mutation_p.R166*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	648					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R648*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTAAGCATTCGAACAATTCCT	0.403																																					p.R648X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1942T	14						.						109.0	94.0	99.0					14																	55448379		2203	4300	6503	54518129	SO:0001587	stop_gained	11169	exon16			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1942C>T	14.37:g.55448379G>A	ENSP00000353793:p.Arg648*		54518129	NM_007086	C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	G	42	9.629853	0.99224	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	.	.	.	5.71	4.77	0.60923	.	0.141721	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3186	14.9058	0.70718	0.0:0.0:0.7814:0.2186	.	.	.	.	X	648;166;525	.	ENSP00000352085:R166X	R	-	1	2	WDHD1	54518129	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.738000	0.55067	2.708000	0.92522	0.585000	0.79938	CGA		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
WDHD1	11169	broad.mit.edu	37	14	55475392	55475392	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55475392C>A	ENST00000360586.3	-	5	452	c.387G>T	c.(385-387)caG>caT	p.Q129H	WDHD1_ENST00000420358.2_Missense_Mutation_p.Q6H|WDHD1_ENST00000421192.1_Missense_Mutation_p.Q6H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	129					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.Q129H(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GAAATGTTTTCTGTTGGCTGC	0.358																																					p.Q129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G387T	14						.						111.0	109.0	110.0					14																	55475392		2203	4300	6503	54545142	SO:0001583	missense	11169	exon5			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.387G>T	14.37:g.55475392C>A	ENSP00000353793:p.Gln129His		54545142	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847190	0.71603	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358;ENST00000455555	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.15	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63450	0.2512	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58707	-0.7589	10	0.33940	T	0.23	.	11.1938	0.48700	0.0:0.8518:0.0:0.1482	.	129	O75717	WDHD1_HUMAN	H	129;6;6;129	ENSP00000353793:Q129H;ENSP00000391049:Q6H;ENSP00000399349:Q6H;ENSP00000413435:Q129H	ENSP00000353793:Q129H	Q	-	3	2	WDHD1	54545142	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.586000	0.53950	0.681000	0.31386	0.591000	0.81541	CAG		0.358	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
SOCS4	122809	broad.mit.edu	37	14	55510690	55510690	+	Nonsense_Mutation	SNP	C	C	T	rs372537919		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55510690C>T	ENST00000395472.2	+	2	1263	c.931C>T	c.(931-933)Cga>Tga	p.R311*	SOCS4_ENST00000555846.1_Nonsense_Mutation_p.R311*|SOCS4_ENST00000339298.2_Nonsense_Mutation_p.R311*	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	311	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)			p.R311*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CTTTTTACTTCGAGACTCAGC	0.418																																					p.R311X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C931T	14						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	122.0	122.0		931,931	4.9	1.0	14		122	0,8600		0,0,4300	no	stop-gained,stop-gained	SOCS4	NM_080867.2,NM_199421.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	311/441,311/441	55510690	1,13005	2203	4300	6503	54580443	SO:0001587	stop_gained	122809	exon2			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.931C>T	14.37:g.55510690C>T	ENSP00000378855:p.Arg311*		54580443	NM_080867		Nonsense_Mutation	SNP	ENST00000395472.2	37	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	C	37	6.115190	0.97296	2.27E-4	0.0	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	.	.	.	5.77	4.87	0.63330	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2067	16.1994	0.82060	0.1342:0.8658:0.0:0.0	.	.	.	.	X	311	.	ENSP00000341327:R311X	R	+	1	2	SOCS4	54580443	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.958000	0.56737	1.406000	0.46857	-0.188000	0.12872	CGA		0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1		
DLGAP5	9787	broad.mit.edu	37	14	55625286	55625286	+	Silent	SNP	G	G	A	rs139031197	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55625286G>A	ENST00000247191.2	-	14	2043	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	DLGAP5_ENST00000395425.2_Silent_p.F609F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	609					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.F609F(2)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCCAGCATCGAACACTATTT	0.333																																					p.F609F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1827T	14						.	G	,	0,4404		0,0,2202	100.0	95.0	97.0		1827,1827	0.0	1.0	14	dbSNP_134	97	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DLGAP5	NM_001146015.1,NM_014750.4	,	0,3,6499	AA,AG,GG		0.0349,0.0,0.0231	,	609/843,609/847	55625286	3,13001	2202	4300	6502	54695039	SO:0001819	synonymous_variant	9787	exon14			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1827C>T	14.37:g.55625286G>A			54695039	NM_001146015	A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	CCDS9723.1																																																																																				0.333	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
DLGAP5	9787	broad.mit.edu	37	14	55646352	55646352	+	Missense_Mutation	SNP	C	C	A	rs368885720		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55646352C>A	ENST00000247191.2	-	7	985	c.769G>T	c.(769-771)Gac>Tac	p.D257Y	DLGAP5_ENST00000395425.2_Missense_Mutation_p.D257Y	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	257					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.D257Y(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTACCTTGTCGGGTTTTGTT	0.299																																					p.D257Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G769T	14						.						123.0	109.0	114.0					14																	55646352		2203	4300	6503	54716105	SO:0001583	missense	9787	exon7			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.769G>T	14.37:g.55646352C>A	ENSP00000247191:p.Asp257Tyr		54716105	NM_001146015	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102019	0.37048	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.14022	2.55;2.54	4.37	4.37	0.52481	.	1.643360	0.02844	N	0.128298	T	0.39809	0.1092	M	0.61703	1.905	0.34009	D	0.651259	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.05666	-1.0871	10	0.87932	D	0	.	12.726	0.57170	0.0:1.0:0.0:0.0	.	257;257	A8MTM6;Q15398	.;DLGP5_HUMAN	Y	257	ENSP00000378815:D257Y;ENSP00000247191:D257Y	ENSP00000247191:D257Y	D	-	1	0	DLGAP5	54716105	0.440000	0.25618	0.973000	0.42090	0.086000	0.17979	1.009000	0.29886	2.721000	0.93114	0.655000	0.94253	GAC		0.299	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
DLGAP5	9787	broad.mit.edu	37	14	55650280	55650280	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55650280T>G	ENST00000247191.2	-	3	646	c.430A>C	c.(430-432)Aag>Cag	p.K144Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.K144Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	144					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.K144Q(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AAATTTACCTTTTTTGGCTCA	0.323																																					p.K144Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430C	14						.						74.0	73.0	73.0					14																	55650280		2203	4300	6503	54720033	SO:0001583	missense	9787	exon3			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.430A>C	14.37:g.55650280T>G	ENSP00000247191:p.Lys144Gln		54720033	NM_001146015	A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743451	0.69418	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.55234	0.53;0.53;0.53	5.02	3.85	0.44370	.	1.130690	0.06517	N	0.739043	T	0.65842	0.2730	L	0.57536	1.79	0.31889	N	0.617428	P;D	0.69078	0.553;0.997	B;P	0.58520	0.203;0.84	T	0.57394	-0.7819	10	0.44086	T	0.13	.	11.1779	0.48610	0.0:0.0:0.1546:0.8454	.	144;144	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	144	ENSP00000378815:K144Q;ENSP00000247191:K144Q;ENSP00000451747:K144Q	ENSP00000247191:K144Q	K	-	1	0	DLGAP5	54720033	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.816000	0.27267	1.017000	0.39495	0.533000	0.62120	AAG		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	
FBXO34	55030	broad.mit.edu	37	14	55819194	55819194	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:55819194C>T	ENST00000313833.4	+	2	2331	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	FBXO34_ENST00000440021.1_Missense_Mutation_p.R696W	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	696								p.R696W(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CAGCTTTAATCGGGCAATCCA	0.488																																					p.R696W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2086T	14						.						36.0	36.0	36.0					14																	55819194		2203	4300	6503	54888947	SO:0001583	missense	55030	exon2			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.2086C>T	14.37:g.55819194C>T	ENSP00000313159:p.Arg696Trp		54888947	NM_152231	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950415	0.34377	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20332	2.08;2.08	6.17	4.34	0.51931	.	0.636558	0.13765	N	0.364265	T	0.38612	0.1047	M	0.67953	2.075	0.45318	D	0.998318	D	0.89917	1.0	P	0.62014	0.897	T	0.08229	-1.0732	10	0.72032	D	0.01	.	8.5678	0.33550	0.131:0.7576:0.0:0.1114	.	696	Q9NWN3	FBX34_HUMAN	W	696	ENSP00000313159:R696W;ENSP00000394117:R696W	ENSP00000313159:R696W	R	+	1	2	FBXO34	54888947	0.915000	0.31059	0.996000	0.52242	0.011000	0.07611	1.773000	0.38563	2.941000	0.99782	0.655000	0.94253	CGG		0.488	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1		
KTN1	3895	broad.mit.edu	37	14	56083314	56083314	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:56083314A>G	ENST00000395314.3	+	3	671	c.603A>G	c.(601-603)aaA>aaG	p.K201K	KTN1_ENST00000395308.1_Silent_p.K201K|KTN1_ENST00000438792.2_Silent_p.K201K|KTN1_ENST00000416613.1_Silent_p.K201K|KTN1_ENST00000395309.3_Silent_p.K201K|KTN1_ENST00000395311.1_Silent_p.K201K|KTN1_ENST00000413890.2_Silent_p.K201K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	201					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K201K(2)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGACTAAACAAGAAAGTG	0.348			T	RET	papillary thryoid																																p.K201K			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A603G	14						.						81.0	75.0	77.0					14																	56083314		2203	4300	6503	55153067	SO:0001819	synonymous_variant	3895	exon3				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.603A>G	14.37:g.56083314A>G			55153067	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
KTN1	3895	broad.mit.edu	37	14	56118628	56118628	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:56118628T>G	ENST00000395314.3	+	25	2654	c.2586T>G	c.(2584-2586)gtT>gtG	p.V862V	KTN1_ENST00000395308.1_Silent_p.V839V|KTN1_ENST00000438792.2_Silent_p.V862V|KTN1_ENST00000416613.1_Silent_p.V862V|KTN1_ENST00000395309.3_Silent_p.V862V|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000395311.1_Silent_p.V839V|KTN1_ENST00000554507.1_Silent_p.V157V|KTN1_ENST00000413890.2_Silent_p.V839V	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	862					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.V862V(2)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCCAAAGTTCAGGAGCTTC	0.259			T	RET	papillary thryoid																																p.V862V			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2586G	14						.						60.0	59.0	60.0					14																	56118628		2200	4286	6486	55188381	SO:0001819	synonymous_variant	3895	exon25				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2586T>G	14.37:g.56118628T>G			55188381	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				0.259	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
KTN1	3895	broad.mit.edu	37	14	56146308	56146308	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:56146308C>A	ENST00000395314.3	+	43	4042	c.3974C>A	c.(3973-3975)tCt>tAt	p.S1325Y	KTN1_ENST00000395308.1_Missense_Mutation_p.S1274Y|KTN1_ENST00000438792.2_Missense_Mutation_p.S1268Y|KTN1_ENST00000416613.1_Missense_Mutation_p.S1325Y|KTN1_ENST00000395309.3_Missense_Mutation_p.S1325Y|KTN1_ENST00000395311.1_Missense_Mutation_p.S1274Y|KTN1_ENST00000554507.1_Missense_Mutation_p.S563Y|KTN1_ENST00000555573.1_Missense_Mutation_p.S302Y|KTN1_ENST00000413890.2_Missense_Mutation_p.S1274Y	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1325					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.S1325Y(2)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAGACAATGTCTGTAAGTCTA	0.393			T	RET	papillary thryoid																																p.S1268Y			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3803A	14						.						92.0	90.0	91.0					14																	56146308		2203	4300	6503	55216061	SO:0001583	missense	3895	exon41				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3974C>A	14.37:g.56146308C>A	ENSP00000378725:p.Ser1325Tyr		55216061	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.570765|3.570765	0.65765|0.65765	.|.	.|.	ENSG00000126777|ENSG00000126777	ENST00000554294|ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	.|T;T;T;T;T;T;T;T;T	.|0.77358	.|1.47;1.44;1.48;1.44;1.47;1.47;1.44;-1.09;-1.09	6.17|6.17	2.38|2.38	0.29361|0.29361	.|.	.|0.380494	.|0.22699	.|N	.|0.056702	T|T	0.76140|0.76140	0.3946|0.3946	N|N	0.24115|0.24115	0.695|0.695	0.25348|0.25348	N|N	0.988892|0.988892	.|D;D;D;D;D;D	.|0.89917	.|0.998;0.998;0.998;1.0;0.996;0.996	.|D;D;D;D;D;D	.|0.87578	.|0.958;0.929;0.958;0.998;0.929;0.929	T|T	0.64516|0.64516	-0.6389|-0.6389	5|10	.|0.59425	.|D	.|0.04	1.2497|1.2497	5.3948|5.3948	0.16263|0.16263	0.1297:0.6016:0.0:0.2687|0.1297:0.6016:0.0:0.2687	.|.	.|302;1297;563;1268;1274;1325	.|B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.|.;.;.;.;.;KTN1_HUMAN	M|Y	96|1274;1325;1268;1325;1274;1274;1325;563;302	.|ENSP00000394992:S1274Y;ENSP00000378720:S1325Y;ENSP00000391964:S1268Y;ENSP00000378725:S1325Y;ENSP00000378719:S1274Y;ENSP00000378722:S1274Y;ENSP00000388807:S1325Y;ENSP00000452073:S563Y;ENSP00000451698:S302Y	.|ENSP00000334083:S120Y	L|S	+|+	1|2	2|0	KTN1|KTN1	55216061|55216061	1.000000|1.000000	0.71417|0.71417	0.375000|0.375000	0.26029|0.26029	0.932000|0.932000	0.56968|0.56968	3.187000|3.187000	0.50950|0.50950	0.183000|0.183000	0.20059|0.20059	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.393	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
TMEM260	54916	broad.mit.edu	37	14	57072378	57072378	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:57072378C>A	ENST00000261556.6	+	5	735	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.L205I	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	205						integral component of membrane (GO:0016021)		p.L205I(1)									ACCTTGGATTCTCTTTCAACT	0.284																																					p.L205I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613A	14						.						115.0	124.0	121.0					14																	57072378		2202	4298	6500	56142131	SO:0001583	missense	54916	exon5			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.613C>A	14.37:g.57072378C>A	ENSP00000261556:p.Leu205Ile		56142131	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568338	0.65651	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.54071	1.15;0.59	5.59	5.59	0.84812	.	0.061586	0.64402	D	0.000003	T	0.66934	0.2840	M	0.82323	2.585	0.80722	D	1	D	0.53745	0.962	P	0.53450	0.726	T	0.67864	-0.5560	10	0.36615	T	0.2	-8.3084	13.897	0.63778	0.0:0.9274:0.0:0.0726	.	205	Q9NX78	CN101_HUMAN	I	205	ENSP00000261556:L205I;ENSP00000441934:L205I	ENSP00000261556:L205I	L	+	1	0	C14orf101	56142131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.739000	0.62080	2.645000	0.89757	0.552000	0.68991	CTC		0.284	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
TMEM260	54916	broad.mit.edu	37	14	57082687	57082687	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:57082687G>A	ENST00000261556.6	+	8	1005	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.E295K	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	295						integral component of membrane (GO:0016021)		p.E295K(2)									TATGAGGACCGAACTCTCATT	0.313																																					p.E295K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G883A	14						.						135.0	139.0	137.0					14																	57082687		2203	4299	6502	56152440	SO:0001583	missense	54916	exon8			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.883G>A	14.37:g.57082687G>A	ENSP00000261556:p.Glu295Lys		56152440	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265191	0.40095	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.46819	1.44;0.86	5.89	4.02	0.46733	.	0.201414	0.51477	D	0.000093	T	0.39600	0.1084	L	0.57536	1.79	0.80722	D	1	B	0.32781	0.384	B	0.19666	0.026	T	0.17198	-1.0377	10	0.14252	T	0.57	-7.4479	14.9773	0.71283	0.0:0.2576:0.7424:0.0	.	295	Q9NX78	CN101_HUMAN	K	295	ENSP00000261556:E295K;ENSP00000441934:E295K	ENSP00000261556:E295K	E	+	1	0	C14orf101	56152440	0.976000	0.34144	0.880000	0.34516	0.620000	0.37586	1.822000	0.39052	0.740000	0.32651	0.585000	0.79938	GAA		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
AP5M1	55745	broad.mit.edu	37	14	57736101	57736101	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:57736101C>A	ENST00000261558.3	+	1	475	c.69C>A	c.(67-69)ttC>ttA	p.F23L	EXOC5_ENST00000340918.7_5'Flank|AP5M1_ENST00000431972.2_Missense_Mutation_p.F23L|EXOC5_ENST00000413566.2_5'Flank	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	23					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)		p.F23L(1)									CCGTGAGATTCTCCAGGTAAA	0.493																																					p.F23L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C69A	14						.						115.0	108.0	110.0					14																	57736101		2203	4300	6503	56805854	SO:0001583	missense	55745	exon1			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.69C>A	14.37:g.57736101C>A	ENSP00000261558:p.Phe23Leu		56805854	NM_018229	O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366150	0.82463	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.33865	1.39;1.41	5.93	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	M	0.69823	2.125	0.58432	D	0.999995	B;P	0.40619	0.289;0.724	B;B	0.38458	0.07;0.274	T	0.22800	-1.0206	10	0.66056	D	0.02	.	8.9522	0.35796	0.0:0.771:0.0:0.229	.	23;23	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	L	23	ENSP00000261558:F23L;ENSP00000390531:F23L	ENSP00000261558:F23L	F	+	3	2	MUDENG	56805854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.273000	0.33121	0.837000	0.34925	0.655000	0.94253	TTC		0.493	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229	
SLC35F4	341880	broad.mit.edu	37	14	58031063	58031063	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58031063G>T	ENST00000339762.6	-	8	1355	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	SLC35F4_ENST00000556826.1_Missense_Mutation_p.F416L|SLC35F4_ENST00000554729.1_Missense_Mutation_p.F293L			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	452					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F452L(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGACAACATTGAATATCACCT	0.443																																					p.F452L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1356A	14						.						60.0	60.0	60.0					14																	58031063		1977	4159	6136	57100816	SO:0001583	missense	341880	exon8					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1356C>A	14.37:g.58031063G>T	ENSP00000342518:p.Phe452Leu		57100816	NM_001080455	A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37		.	.	.	.	.	.	.	.	.	.	G	16.57	3.161334	0.57368	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.48522	0.85;0.81;0.9	5.15	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	M	0.68593	2.085	0.80722	D	1	B	0.12013	0.005	B	0.13407	0.009	T	0.41520	-0.9504	10	0.33940	T	0.23	-17.1737	13.9048	0.63828	0.0741:0.0:0.9259:0.0	.	452	A4IF30	S35F4_HUMAN	L	416;452;293	ENSP00000452086:F416L;ENSP00000342518:F452L;ENSP00000451990:F293L	ENSP00000342518:F452L	F	-	3	2	SLC35F4	57100816	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.976000	0.88070	1.295000	0.44724	0.460000	0.39030	TTC		0.443	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	
SLC35F4	341880	broad.mit.edu	37	14	58036615	58036615	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58036615G>T	ENST00000339762.6	-	6	1124	c.1125C>A	c.(1123-1125)atC>atA	p.I375I	SLC35F4_ENST00000556826.1_Silent_p.I339I|SLC35F4_ENST00000554729.1_Silent_p.I216I			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	375					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.I375I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAGATGAAGATCAAATTGA	0.478																																					p.I375I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1125A	14						.						58.0	64.0	62.0					14																	58036615		1942	4143	6085	57106368	SO:0001819	synonymous_variant	341880	exon6					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1125C>A	14.37:g.58036615G>T			57106368	NM_001080455	A6NDQ3	Silent	SNP	ENST00000339762.6	37																																																																																					0.478	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	
ACTR10	55860	broad.mit.edu	37	14	58698938	58698938	+	Missense_Mutation	SNP	G	G	A	rs554639681	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58698938G>A	ENST00000254286.4	+	12	1105	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	342					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.R342Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAGACATTTCGAATTCATACT	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		12160	0.0		0.0	False		,,,				2504	0.002				p.R342Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1025A	14						.						89.0	98.0	95.0					14																	58698938		2203	4300	6503	57768691	SO:0001583	missense	55860	exon12			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1025G>A	14.37:g.58698938G>A	ENSP00000254286:p.Arg342Gln		57768691	NM_018477	Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450420	0.63290	.	.	ENSG00000131966	ENST00000254286	D	0.95171	-3.63	5.77	3.91	0.45181	.	0.255144	0.36002	N	0.002853	D	0.86686	0.5992	L	0.31752	0.955	0.40035	D	0.975578	P;P	0.42248	0.774;0.604	B;B	0.34385	0.181;0.095	T	0.82370	-0.0491	9	.	.	.	-4.6272	5.9264	0.19114	0.21:0.0:0.6522:0.1377	.	342;342	Q53H79;Q9NZ32	.;ARP10_HUMAN	Q	342	ENSP00000254286:R342Q	.	R	+	2	0	ACTR10	57768691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.797000	0.62503	0.869000	0.35703	0.655000	0.94253	CGA		0.343	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1		
PSMA3	5684	broad.mit.edu	37	14	58724656	58724656	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58724656G>T	ENST00000216455.4	+	5	434	c.344G>T	c.(343-345)aGa>aTa	p.R115I	PSMA3_ENST00000412908.2_Missense_Mutation_p.R115I|PSMA3_ENST00000557508.1_Missense_Mutation_p.R40I	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.R115I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CTTGCAGACAGAGTGGCCATG	0.383																																					p.R115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344T	14						.						112.0	109.0	110.0					14																	58724656		2203	4300	6503	57794409	SO:0001583	missense	5684	exon5				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.344G>T	14.37:g.58724656G>T	ENSP00000216455:p.Arg115Ile		57794409	NM_002788	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	ENST00000216455.4	37	CCDS9731.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848322	0.91277	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T;T	0.23754	1.89;1.89;1.89	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.94142	3.5	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70487	0.948;0.969	T	0.75747	-0.3209	10	0.87932	D	0	-5.7676	18.9069	0.92466	0.0:0.0:1.0:0.0	.	115;115	P25788-2;P25788	.;PSA3_HUMAN	I	115;115;40;5	ENSP00000216455:R115I;ENSP00000390491:R115I;ENSP00000452056:R40I	ENSP00000216455:R115I	R	+	2	0	PSMA3	57794409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.119000	0.94362	2.552000	0.86080	0.655000	0.94253	AGA		0.383	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1	NM_002788	
ARID4A	5926	broad.mit.edu	37	14	58833731	58833731	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58833731A>C	ENST00000355431.3	+	23	4027	c.3654A>C	c.(3652-3654)aaA>aaC	p.K1218N	ARID4A_ENST00000431317.2_Missense_Mutation_p.K1149N|ARID4A_ENST00000348476.3_Missense_Mutation_p.K1149N|ARID4A_ENST00000395168.3_Missense_Mutation_p.K1164N	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1218					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K1218N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGATTAAAAAAGAAAGACA	0.284																																					p.K1164N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3492C	14						.						41.0	47.0	45.0					14																	58833731		2196	4273	6469	57903484	SO:0001583	missense	5926	exon23			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3654A>C	14.37:g.58833731A>C	ENSP00000347602:p.Lys1218Asn		57903484	NM_023000	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015723	0.75161	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.27104	1.69;1.97;1.95;1.97	5.59	5.59	0.84812	.	0.043264	0.85682	D	0.000000	T	0.51466	0.1676	M	0.71581	2.175	0.31771	N	0.632157	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.62859	-0.6765	10	0.87932	D	0	-28.851	15.7641	0.78110	1.0:0.0:0.0:0.0	.	1149;1218;1164	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	N	1218;1149;1164;1149	ENSP00000347602:K1218N;ENSP00000344556:K1149N;ENSP00000378597:K1164N;ENSP00000397368:K1149N	ENSP00000344556:K1149N	K	+	3	2	ARID4A	57903484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.735000	0.68587	2.122000	0.65172	0.477000	0.44152	AAA		0.284	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
KIAA0586	9786	broad.mit.edu	37	14	58927786	58927786	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58927786G>A	ENST00000556134.1	+	15	2196	c.1922G>A	c.(1921-1923)cGa>cAa	p.R641Q	KIAA0586_ENST00000261244.5_Missense_Mutation_p.R580Q|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.R709Q|KIAA0586_ENST00000423743.3_Missense_Mutation_p.R612Q	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	641					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.R580Q(1)|p.R709Q(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGGCCATCGAAGCACTCTT	0.378																																					p.R580Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1739A	14						.						104.0	94.0	97.0					14																	58927786		1854	4109	5963	57997539	SO:0001583	missense	9786	exon13			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1922G>A	14.37:g.58927786G>A	ENSP00000452351:p.Arg641Gln		57997539	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151484	0.94645	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	T	0.66799	0.2826	L	0.36672	1.1	0.47547	D	0.999451	D;D;D;P;D;D	0.89917	1.0;1.0;0.998;0.952;1.0;1.0	D;D;P;P;D;D	0.91635	0.999;0.999;0.845;0.463;0.999;0.999	T	0.67699	-0.5603	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	516;516;709;580;641;612	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	Q	709;641;612;580;516	ENSP00000346359:R709Q;ENSP00000452351:R641Q;ENSP00000399427:R612Q;ENSP00000261244:R580Q	ENSP00000261244:R580Q	R	+	2	0	KIAA0586	57997539	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.472000	0.80996	2.732000	0.93576	0.650000	0.86243	CGA		0.378	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
KIAA0586	9786	broad.mit.edu	37	14	58941367	58941367	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58941367C>A	ENST00000556134.1	+	20	2906	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	KIAA0586_ENST00000261244.5_Missense_Mutation_p.L817M|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.L946M|KIAA0586_ENST00000423743.3_Missense_Mutation_p.L849M	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	878					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L946M(1)|p.L817M(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAACCAATTCTGGAGTTTAA	0.348																																					p.L817M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2449A	14						.						41.0	40.0	40.0					14																	58941367		1818	4072	5890	58011120	SO:0001583	missense	9786	exon18			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2632C>A	14.37:g.58941367C>A	ENSP00000452351:p.Leu878Met		58011120	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815368	0.50527	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.19	1.65	0.23941	.	0.117279	0.37577	N	0.002022	T	0.73156	0.3551	M	0.74881	2.28	0.31916	N	0.614094	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.998;0.998	D;D;D;D;D;D	0.91635	0.964;0.964;0.999;0.998;0.964;0.964	T	0.73623	-0.3924	10	0.72032	D	0.01	.	6.1661	0.20390	0.0:0.5978:0.1295:0.2728	.	753;753;946;817;878;849	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	M	946;878;849;817;753	ENSP00000346359:L946M;ENSP00000452351:L878M;ENSP00000399427:L849M;ENSP00000261244:L817M	ENSP00000261244:L817M	L	+	1	2	KIAA0586	58011120	0.206000	0.23470	0.996000	0.52242	0.870000	0.49936	0.161000	0.16481	0.314000	0.23086	-0.282000	0.10007	CTG		0.348	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
KIAA0586	9786	broad.mit.edu	37	14	58955584	58955584	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58955584C>T	ENST00000556134.1	+	25	4002	c.3728C>T	c.(3727-3729)gCc>gTc	p.A1243V	KIAA0586_ENST00000261244.5_Missense_Mutation_p.A1182V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A1311V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A1214V	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1243					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.A1311V(1)|p.A1182V(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAAAATTGGCCCCCAAGAGT	0.318																																					p.A1182V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3545T	14						.						57.0	57.0	57.0					14																	58955584		1806	4074	5880	58025337	SO:0001583	missense	9786	exon23			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3728C>T	14.37:g.58955584C>T	ENSP00000452351:p.Ala1243Val		58025337	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924314	0.73213	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.38	3.56	0.40772	.	0.256881	0.37095	N	0.002245	T	0.54983	0.1892	.	.	.	0.33561	D	0.597346	P;P;P;B;B	0.51537	0.465;0.946;0.734;0.077;0.077	B;P;B;B;B	0.48677	0.148;0.586;0.203;0.046;0.046	T	0.68595	-0.5367	9	0.56958	D	0.05	.	11.5412	0.50667	0.0:0.8533:0.0:0.1467	.	1118;1311;1182;1243;1214	B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;K0586_HUMAN;.	V	1311;1243;1214;1182	ENSP00000346359:A1311V;ENSP00000452351:A1243V;ENSP00000399427:A1214V;ENSP00000261244:A1182V	ENSP00000261244:A1182V	A	+	2	0	KIAA0586	58025337	0.998000	0.40836	0.155000	0.22561	0.941000	0.58515	2.321000	0.43805	0.766000	0.33244	0.585000	0.79938	GCC		0.318	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
DACT1	51339	broad.mit.edu	37	14	59112032	59112032	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:59112032G>A	ENST00000335867.4	+	4	715	c.691G>A	c.(691-693)Gca>Aca	p.A231T	DACT1_ENST00000395153.3_Intron|DACT1_ENST00000555845.1_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000541264.2_Intron			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	231					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A231T(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGCCTCAGGGGCAGTTTGCCG	0.433																																					p.A231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	14						.						125.0	115.0	119.0					14																	59112032		2203	4300	6503	58181785	SO:0001583	missense	51339	exon4			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.691G>A	14.37:g.59112032G>A	ENSP00000337439:p.Ala231Thr		58181785	NM_016651	A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.269987	0.05716	.	.	ENSG00000165617	ENST00000335867	T	0.41758	0.99	5.41	2.55	0.30701	.	0.491785	0.21510	N	0.073384	T	0.16599	0.0399	N	0.10685	0.025	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.25012	-1.0144	10	0.08599	T	0.76	-2.0246	4.4329	0.11536	0.3943:0.0:0.4513:0.1544	.	231	Q9NYF0	DACT1_HUMAN	T	231	ENSP00000337439:A231T	ENSP00000337439:A231T	A	+	1	0	DACT1	58181785	0.344000	0.24827	0.957000	0.39632	0.988000	0.76386	0.460000	0.21924	0.332000	0.23536	0.563000	0.77884	GCA		0.433	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
RTN1	6252	broad.mit.edu	37	14	60212801	60212801	+	Missense_Mutation	SNP	C	C	T	rs370975029		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:60212801C>T	ENST00000267484.5	-	2	975	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	214					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.E214K(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTCCAGCTCGGGGTGATGT	0.468																																					p.E214K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	14						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	249.0	245.0	246.0		640	1.1	0.0	14		246	0,8600		0,0,4300	no	missense	RTN1	NM_021136.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	214/777	60212801	1,13005	2203	4300	6503	59282554	SO:0001583	missense	6252	exon2			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.640G>A	14.37:g.60212801C>T	ENSP00000267484:p.Glu214Lys		59282554	NM_021136	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	2.398	-0.338267	0.05278	2.27E-4	0.0	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.21543	2.0	5.7	1.1	0.20463	.	1.068380	0.07080	N	0.836868	T	0.08758	0.0217	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35674	-0.9779	10	0.09084	T	0.74	.	8.8423	0.35148	0.0:0.7084:0.0:0.2916	.	214	Q16799	RTN1_HUMAN	K	214;140	ENSP00000267484:E214K	ENSP00000267484:E214K	E	-	1	0	RTN1	59282554	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.457000	0.21875	0.210000	0.20664	-0.259000	0.10710	GAG		0.468	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
PCNXL4	64430	broad.mit.edu	37	14	60581927	60581927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:60581927G>T	ENST00000406854.1	+	4	1659	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	PCNXL4_ENST00000404681.2_Nonsense_Mutation_p.E369*|PCNXL4_ENST00000317623.4_Nonsense_Mutation_p.E135*|PCNXL4_ENST00000406949.1_Nonsense_Mutation_p.E135*			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	369						integral component of membrane (GO:0016021)		p.E369*(1)|p.E135*(1)									GGCTCTTTTAGAAACTAGCTT	0.363																																					p.E135X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G403T	14						.						157.0	144.0	148.0					14																	60581927		1823	4081	5904	59651680	SO:0001587	stop_gained	64430	exon3			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1105G>T	14.37:g.60581927G>T	ENSP00000384801:p.Glu369*		59651680	NM_022495	A8MXM2|Q9BQG8|Q9H9F2	Nonsense_Mutation	SNP	ENST00000406854.1	37		.	.	.	.	.	.	.	.	.	.	G	42	9.306797	0.99132	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.5267	0.95209	0.0:0.0:1.0:0.0	.	.	.	.	X	135;369;135;369	.	ENSP00000317396:E135X	E	+	1	0	C14orf135	59651680	1.000000	0.71417	0.801000	0.32222	0.805000	0.45488	8.837000	0.92110	2.677000	0.91161	0.462000	0.41574	GAA		0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	
C14orf39	317761	broad.mit.edu	37	14	60935224	60935224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:60935224G>T	ENST00000321731.3	-	9	865	c.706C>A	c.(706-708)Ctt>Att	p.L236I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	236					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.L236I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GTTTCTGAAAGAGCCTTAGTT	0.289																																					p.L236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706A	14						.						68.0	71.0	70.0					14																	60935224		2199	4282	6481	60004977	SO:0001583	missense	317761	exon9			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.706C>A	14.37:g.60935224G>T	ENSP00000324920:p.Leu236Ile		60004977	NM_174978	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345863	0.24426	.	.	ENSG00000179008	ENST00000321731	T	0.24151	1.87	5.1	4.2	0.49525	.	0.379769	0.22745	N	0.056149	T	0.26521	0.0648	L	0.48362	1.52	0.23132	N	0.998247	P	0.49961	0.93	P	0.47645	0.553	T	0.07347	-1.0777	10	0.32370	T	0.25	-15.2725	8.8344	0.35104	0.1035:0.0:0.8965:0.0	.	236	Q8N1H7	S6OS1_HUMAN	I	236	ENSP00000324920:L236I	ENSP00000324920:L236I	L	-	1	0	C14orf39	60004977	0.964000	0.33143	0.997000	0.53966	0.535000	0.34838	0.799000	0.27028	1.480000	0.48289	0.655000	0.94253	CTT		0.289	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
C14orf39	317761	broad.mit.edu	37	14	60945052	60945052	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:60945052A>C	ENST00000321731.3	-	5	448	c.289T>G	c.(289-291)Ttt>Gtt	p.F97V		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	97					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.F97V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TAAACAGTAAATTGGTCCTGC	0.284																																					p.F97V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T289G	14						.						76.0	75.0	75.0					14																	60945052		2201	4294	6495	60014805	SO:0001583	missense	317761	exon5			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.289T>G	14.37:g.60945052A>C	ENSP00000324920:p.Phe97Val		60014805	NM_174978	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	A	4.750	0.139377	0.09083	.	.	ENSG00000179008	ENST00000321731;ENST00000555476	T;T	0.48201	1.86;0.82	5.56	0.459	0.16678	.	0.516547	0.20860	N	0.084363	T	0.38321	0.1036	L	0.56769	1.78	0.09310	N	1	P	0.35575	0.51	B	0.34536	0.185	T	0.24657	-1.0154	10	0.59425	D	0.04	-0.6435	6.4142	0.21708	0.5761:0.1243:0.2995:0.0	.	97	Q8N1H7	S6OS1_HUMAN	V	97;68	ENSP00000324920:F97V;ENSP00000451665:F68V	ENSP00000324920:F97V	F	-	1	0	C14orf39	60014805	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	0.191000	0.17076	-0.348000	0.08286	-1.162000	0.01777	TTT		0.284	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
SIX4	51804	broad.mit.edu	37	14	61180285	61180285	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61180285G>A	ENST00000216513.4	-	3	2245	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	729					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S729F(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTTGCTCTCAGAATTTGATAA	0.423																																					p.S729F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2186T	14						.						114.0	110.0	112.0					14																	61180285		2203	4300	6503	60250038	SO:0001583	missense	51804	exon3			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2186C>T	14.37:g.61180285G>A	ENSP00000216513:p.Ser729Phe		60250038	NM_017420	Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796743	0.70567	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.93019	-3.15;0.48	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000135	D	0.93533	0.7936	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	P	0.61328	0.887	D	0.94436	0.7654	10	0.87932	D	0	.	20.0396	0.97574	0.0:0.0:1.0:0.0	.	729	Q9UIU6	SIX4_HUMAN	F	729;402	ENSP00000216513:S729F;ENSP00000451537:S402F	ENSP00000216513:S729F	S	-	2	0	SIX4	60250038	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.814000	0.96858	0.563000	0.77884	TCT		0.423	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
SIX4	51804	broad.mit.edu	37	14	61180674	61180674	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61180674G>T	ENST00000216513.4	-	3	1856	c.1797C>A	c.(1795-1797)atC>atA	p.I599I		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	599					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I599I(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CACTCCCCGAGATGTTTTCAG	0.453																																					p.I599I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1797A	14						.						66.0	66.0	66.0					14																	61180674		2203	4300	6503	60250427	SO:0001819	synonymous_variant	51804	exon3			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1797C>A	14.37:g.61180674G>T			60250427	NM_017420	Q4QQH5|Q4V764	Silent	SNP	ENST00000216513.4	37	CCDS9749.2																																																																																				0.453	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
TRMT5	57570	broad.mit.edu	37	14	61442504	61442504	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61442504C>A	ENST00000261249.6	-	4	1517	c.1133G>T	c.(1132-1134)aGa>aTa	p.R378I	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5									p.R378I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGAGGGTTTTCTTTCTTTTGA	0.458																																					p.R378I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133T	14						.						90.0	90.0	90.0					14																	61442504		2203	4300	6503	60512257	SO:0001583	missense	57570	exon4			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1133G>T	14.37:g.61442504C>A	ENSP00000261249:p.Arg378Ile		60512257	NM_020810		Missense_Mutation	SNP	ENST00000261249.6	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565883	0.45694	.	.	ENSG00000126814	ENST00000261249	T	0.25085	1.82	6.08	5.18	0.71444	.	0.387375	0.33631	N	0.004707	T	0.17577	0.0422	N	0.17474	0.49	0.37549	D	0.918605	B	0.29432	0.244	B	0.36030	0.216	T	0.18398	-1.0338	10	0.35671	T	0.21	-6.1084	7.9744	0.30147	0.0:0.7225:0.1413:0.1362	.	378	Q32P41	TRM5_HUMAN	I	378	ENSP00000261249:R378I	ENSP00000261249:R378I	R	-	2	0	TRMT5	60512257	0.064000	0.20934	1.000000	0.80357	0.997000	0.91878	0.391000	0.20784	1.560000	0.49568	0.655000	0.94253	AGA		0.458	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081	
TRMT5	57570	broad.mit.edu	37	14	61442568	61442568	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61442568T>G	ENST00000261249.6	-	4	1453	c.1069A>C	c.(1069-1071)Aaa>Caa	p.K357Q	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5									p.K357Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGGAAGTCTTTCCCATCCAAG	0.413																																					p.K357Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1069C	14						.						102.0	102.0	102.0					14																	61442568		2203	4300	6503	60512321	SO:0001583	missense	57570	exon4			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1069A>C	14.37:g.61442568T>G	ENSP00000261249:p.Lys357Gln		60512321	NM_020810		Missense_Mutation	SNP	ENST00000261249.6	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118065	0.56505	.	.	ENSG00000126814	ENST00000261249	T	0.22539	1.95	6.17	0.699	0.18093	.	0.181637	0.56097	N	0.000023	T	0.15825	0.0381	L	0.28400	0.85	0.25954	N	0.982717	B	0.26512	0.151	B	0.33121	0.158	T	0.22243	-1.0222	10	0.66056	D	0.02	-13.3591	8.9335	0.35686	0.0:0.0626:0.3591:0.5783	.	357	Q32P41	TRM5_HUMAN	Q	357	ENSP00000261249:K357Q	ENSP00000261249:K357Q	K	-	1	0	TRMT5	60512321	0.400000	0.25295	0.951000	0.38953	0.990000	0.78478	0.550000	0.23345	0.156000	0.19299	0.533000	0.62120	AAA		0.413	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081	
SLC38A6	145389	broad.mit.edu	37	14	61497177	61497177	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61497177C>A	ENST00000267488.4	+	6	534	c.418C>A	c.(418-420)Ctt>Att	p.L140I	SLC38A6_ENST00000354886.2_Missense_Mutation_p.L140I|SLC38A6_ENST00000456840.2_Missense_Mutation_p.L117I	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	140					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L140I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTCATCTTATCTTTTAATTAT	0.308																																					p.L140I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418A	14						.						59.0	61.0	60.0					14																	61497177		2202	4295	6497	60566930	SO:0001583	missense	145389	exon6			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.418C>A	14.37:g.61497177C>A	ENSP00000267488:p.Leu140Ile		60566930	NM_153811	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783896	0.70222	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000526105	T;T;T;T;T	0.02787	4.16;4.16;4.16;4.16;4.16	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.79475	2.455	0.45528	D	0.998486	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.91635	0.957;0.928;0.999	T	0.00019	-1.2362	10	0.72032	D	0.01	.	12.5549	0.56248	0.0:0.9233:0.0:0.0767	.	117;140;140	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	I	140;140;135;117;86	ENSP00000346959:L140I;ENSP00000267488:L140I;ENSP00000395851:L135I;ENSP00000413863:L117I;ENSP00000451244:L86I	ENSP00000267488:L140I	L	+	1	0	SLC38A6	60566930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.779000	0.47734	2.611000	0.88343	0.655000	0.94253	CTT		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
PRKCH	5583	broad.mit.edu	37	14	61917629	61917629	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:61917629T>G	ENST00000332981.5	+	6	1157	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	PRKCH_ENST00000555082.1_Missense_Mutation_p.F97V	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	258					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.F258V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGTGCCAACATTCTGCGATCA	0.473																																					p.F258V	Melanoma(135;863 1779 8064 14443 26348)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T772G	14						.						172.0	137.0	149.0					14																	61917629		2203	4300	6503	60987382	SO:0001583	missense	5583	exon6			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.772T>G	14.37:g.61917629T>G	ENSP00000329127:p.Phe258Val		60987382	NM_006255	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	37	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992183	0.93167	.	.	ENSG00000027075	ENST00000556778;ENST00000332981;ENST00000555082;ENST00000557585;ENST00000557473	D;D;D;T;D	0.93763	-3.28;-3.28;-3.28;1.07;-1.9	5.79	5.79	0.91817	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.158096	0.44483	D	0.000456	D	0.95576	0.8562	M	0.81112	2.525	0.80722	D	1	P	0.37158	0.585	P	0.48400	0.576	D	0.95834	0.8860	10	0.87932	D	0	.	16.1627	0.81731	0.0:0.0:0.0:1.0	.	258	P24723	KPCL_HUMAN	V	97;258;97;97;97	ENSP00000452055:F97V;ENSP00000329127:F258V;ENSP00000450981:F97V;ENSP00000451930:F97V;ENSP00000452528:F97V	ENSP00000329127:F258V	F	+	1	0	PRKCH	60987382	1.000000	0.71417	0.980000	0.43619	0.907000	0.53573	8.015000	0.88690	2.229000	0.72834	0.472000	0.43445	TTC		0.473	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255	
HIF1A	3091	broad.mit.edu	37	14	62187161	62187161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:62187161G>T	ENST00000337138.4	+	2	362	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_5'UTR|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.E57*|HIF1A_ENST00000394997.1_Nonsense_Mutation_p.E34*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.E33*|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	33	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.E33*(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GCGAAGTAAAGAATCTGAAGT	0.418																																					p.E33X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G97T	14						.						101.0	99.0	100.0					14																	62187161		2203	4300	6503	61256914	SO:0001587	stop_gained	3091	exon2			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.97G>T	14.37:g.62187161G>T	ENSP00000338018:p.Glu33*		61256914	NM_181054	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Nonsense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	38	7.027299	0.98013	.	.	ENSG00000100644	ENST00000337138;ENST00000394997;ENST00000323441;ENST00000539097	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	33;34;33;57	.	ENSP00000323326:E33X	E	+	1	0	HIF1A	61256914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.717000	0.92951	0.585000	0.79938	GAA		0.418	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530	
HIF1A	3091	broad.mit.edu	37	14	62204876	62204876	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:62204876G>A	ENST00000337138.4	+	10	1586	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.E382K|HIF1A_ENST00000539097.1_Missense_Mutation_p.E465K|HIF1A_ENST00000394997.1_Missense_Mutation_p.E442K|HIF1A_ENST00000323441.6_Missense_Mutation_p.E441K|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	441	ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.E441K(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CTCACCCAACGAAAAATTACA	0.413																																					p.E441K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321A	14						.						77.0	73.0	75.0					14																	62204876		2203	4300	6503	61274629	SO:0001583	missense	3091	exon10			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1321G>A	14.37:g.62204876G>A	ENSP00000338018:p.Glu441Lys		61274629	NM_181054	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163707	0.57476	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.55234	0.63;0.63;0.53;0.63;0.62	5.5	5.5	0.81552	.	0.322213	0.30809	N	0.008834	T	0.45438	0.1342	L	0.43152	1.355	0.58432	D	0.999997	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.10450	0.003;0.005;0.005	T	0.33752	-0.9856	10	0.45353	T	0.12	.	13.033	0.58854	0.0741:0.0:0.9259:0.0	.	442;441;441	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	K	192;382;441;442;441;382;465	ENSP00000338018:E441K;ENSP00000378446:E442K;ENSP00000323326:E441K;ENSP00000451696:E382K;ENSP00000437955:E465K	ENSP00000323326:E441K	E	+	1	0	HIF1A	61274629	1.000000	0.71417	0.991000	0.47740	0.907000	0.53573	6.612000	0.74187	2.734000	0.93682	0.650000	0.86243	GAA		0.413	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530	
SYT16	83851	broad.mit.edu	37	14	62536443	62536443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:62536443G>T	ENST00000430451.2	+	2	843	c.646G>T	c.(646-648)Gga>Tga	p.G216*	SYT16_ENST00000446982.2_Nonsense_Mutation_p.G216*|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	216					exocytosis (GO:0006887)			p.G216*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTGAGAAAGGAAAGCAGAC	0.483																																					p.G216X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G646T	14						.						140.0	135.0	136.0					14																	62536443		1937	4135	6072	61606196	SO:0001587	stop_gained	83851	exon2			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.646G>T	14.37:g.62536443G>T	ENSP00000394700:p.Gly216*		61606196	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	38	7.258833	0.98168	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	.	.	.	4.8	0.883	0.19177	.	0.586784	0.17464	N	0.173354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-30.7374	9.4114	0.38494	0.3801:0.0:0.6199:0.0	.	.	.	.	X	216	.	ENSP00000394700:G216X	G	+	1	0	SYT16	61606196	0.998000	0.40836	0.992000	0.48379	0.856000	0.48823	0.830000	0.27462	0.056000	0.16144	0.655000	0.94253	GGA		0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
KCNH5	27133	broad.mit.edu	37	14	63174365	63174365	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63174365G>A	ENST00000322893.7	-	11	3096	c.2828C>T	c.(2827-2829)tCg>tTg	p.S943L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	943	CAD (involved in subunit assembly). {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.S943L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCTTTTTTCCGACAGTATTTT	0.478																																					p.S943L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2828T	14						.						128.0	138.0	135.0					14																	63174365		2203	4300	6503	62244118	SO:0001583	missense	27133	exon11			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2828C>T	14.37:g.63174365G>A	ENSP00000321427:p.Ser943Leu		62244118	NM_139318	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145163	0.21288	.	.	ENSG00000140015	ENST00000322893	D	0.99042	-5.36	5.96	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	N	0.12182	0.205	0.80722	D	1	B	0.15141	0.012	B	0.09377	0.004	D	0.92716	0.6187	10	0.44086	T	0.13	.	14.6071	0.68486	0.0692:0.0:0.9308:0.0	.	943	Q8NCM2	KCNH5_HUMAN	L	943	ENSP00000321427:S943L	ENSP00000321427:S943L	S	-	2	0	KCNH5	62244118	1.000000	0.71417	0.997000	0.53966	0.428000	0.31595	4.695000	0.61767	2.832000	0.97577	0.655000	0.94253	TCG		0.478	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63447622	63447622	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63447622C>A	ENST00000322893.7	-	6	1178	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	KCNH5_ENST00000420622.2_Missense_Mutation_p.D304Y|KCNH5_ENST00000394968.1_Missense_Mutation_p.D246Y|KCNH5_ENST00000394964.2_Missense_Mutation_p.D246Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	304					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.D304Y(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGATGATGTCATAAGGTAAA	0.403																																					p.D246Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736T	14						.						65.0	57.0	60.0					14																	63447622		2203	4300	6503	62517375	SO:0001583	missense	27133	exon6			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.910G>T	14.37:g.63447622C>A	ENSP00000321427:p.Asp304Tyr		62517375	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482638	0.84747	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	L	0.60904	1.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.996;0.999	D	0.99902	1.1165	10	0.87932	D	0	.	19.4888	0.95042	0.0:1.0:0.0:0.0	.	246;246;304;304	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	Y	304;304;246;246	ENSP00000321427:D304Y;ENSP00000395439:D304Y;ENSP00000378419:D246Y;ENSP00000378415:D246Y	ENSP00000321427:D304Y	D	-	1	0	KCNH5	62517375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.607000	0.88179	0.585000	0.79938	GAC		0.403	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63447979	63447979	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63447979G>T	ENST00000322893.7	-	6	821	c.553C>A	c.(553-555)Ctt>Att	p.L185I	KCNH5_ENST00000420622.2_Missense_Mutation_p.L185I|KCNH5_ENST00000394968.1_Missense_Mutation_p.L127I|KCNH5_ENST00000394964.2_Missense_Mutation_p.L127I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	185					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L185I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCCAGCTGAAGAACCTAAAAG	0.388																																					p.L127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C379A	14						.						55.0	58.0	57.0					14																	63447979		2201	4300	6501	62517732	SO:0001583	missense	27133	exon6			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.553C>A	14.37:g.63447979G>T	ENSP00000321427:p.Leu185Ile		62517732	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246763	0.80024	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99051	-5.37;-5.14;-5.15;-5.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	M	0.71206	2.165	0.80722	D	1	B;B;B;P	0.46784	0.129;0.138;0.317;0.884	B;B;B;B	0.43155	0.046;0.126;0.086;0.41	D	0.99548	1.0965	10	0.52906	T	0.07	.	18.8733	0.92325	0.0:0.0:1.0:0.0	.	127;127;185;185	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	I	185;185;127;127	ENSP00000321427:L185I;ENSP00000395439:L185I;ENSP00000378419:L127I;ENSP00000378415:L127I	ENSP00000321427:L185I	L	-	1	0	KCNH5	62517732	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.887000	0.87295	2.461000	0.83175	0.460000	0.39030	CTT		0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63453860	63453860	+	Missense_Mutation	SNP	C	C	T	rs148002630		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63453860C>T	ENST00000322893.7	-	5	747	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	KCNH5_ENST00000420622.2_Missense_Mutation_p.R160Q|KCNH5_ENST00000394968.1_Missense_Mutation_p.R102Q|KCNH5_ENST00000394964.2_Missense_Mutation_p.R102Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	160					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R160Q(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAAACACTTCGGCTATTTGT	0.388																																					p.R102Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G305A	14						.						136.0	126.0	129.0					14																	63453860		2203	4300	6503	62523613	SO:0001583	missense	27133	exon5			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.479G>A	14.37:g.63453860C>T	ENSP00000321427:p.Arg160Gln		62523613	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089800	0.76756	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99098	-5.42;-5.18;-5.24;-5.26	5.71	5.71	0.89125	.	0.065171	0.64402	D	0.000009	D	0.98245	0.9419	M	0.82323	2.585	0.80722	D	1	B;B;B;P	0.37612	0.165;0.118;0.237;0.602	B;B;B;B	0.29524	0.017;0.04;0.059;0.103	D	0.99075	1.0835	10	0.59425	D	0.04	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	102;102;160;160	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	Q	160;160;102;102	ENSP00000321427:R160Q;ENSP00000395439:R160Q;ENSP00000378419:R102Q;ENSP00000378415:R102Q	ENSP00000321427:R160Q	R	-	2	0	KCNH5	62523613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.809000	0.69172	2.697000	0.92050	0.563000	0.77884	CGA		0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63511854	63511854	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63511854C>A	ENST00000322893.7	-	1	319	c.51G>T	c.(49-51)gaG>gaT	p.E17D	KCNH5_ENST00000420622.2_Missense_Mutation_p.E17D|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	17	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E17D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGACGATGTTCTCCAAAAATG	0.652																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	14						.						87.0	71.0	76.0					14																	63511854		2203	4300	6503	62581607	SO:0001583	missense	27133	exon1			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.51G>T	14.37:g.63511854C>A	ENSP00000321427:p.Glu17Asp		62581607	NM_172375	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688617	0.48097	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98926	-5.24;-5.06	5.23	4.34	0.51931	PAS (1);	0.049575	0.85682	D	0.000000	D	0.96911	0.8991	N	0.21194	0.64	0.80722	D	1	P;B	0.51147	0.942;0.063	P;B	0.58266	0.836;0.164	D	0.95082	0.8214	10	0.02654	T	1	.	11.949	0.52944	0.0:0.9142:0.0:0.0858	.	17;17	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	D	17	ENSP00000321427:E17D;ENSP00000395439:E17D	ENSP00000321427:E17D	E	-	3	2	KCNH5	62581607	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.861000	0.48380	1.352000	0.45808	0.563000	0.77884	GAG		0.652	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
RHOJ	57381	broad.mit.edu	37	14	63747757	63747757	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:63747757C>T	ENST00000316754.3	+	3	768	c.306C>T	c.(304-306)gtC>gtT	p.V102V	RHOJ_ENST00000555125.1_Silent_p.V102V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	102					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V102V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTTCTCTGTCGTAAACCCTG	0.537																																					p.V102V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	14						.						221.0	156.0	178.0					14																	63747757		2203	4300	6503	62817510	SO:0001819	synonymous_variant	57381	exon3			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.306C>T	14.37:g.63747757C>T			62817510	NM_020663	Q96KC1	Silent	SNP	ENST00000316754.3	37	CCDS9757.1																																																																																				0.537	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3		
WDR89	112840	broad.mit.edu	37	14	64065578	64065578	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64065578C>A	ENST00000394942.2	-	2	1171	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	WDR89_ENST00000267522.3_Missense_Mutation_p.E361D|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	361								p.E361D(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTTTCATACTCTCTTTCTTTG	0.383																																					p.E361D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1083T	14						.						118.0	109.0	112.0					14																	64065578		2203	4300	6503	63135331	SO:0001583	missense	112840	exon3			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.1083G>T	14.37:g.64065578C>A	ENSP00000378399:p.Glu361Asp		63135331	NM_080666		Missense_Mutation	SNP	ENST00000394942.2	37	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	0.202	-1.044131	0.01997	.	.	ENSG00000140006	ENST00000394942;ENST00000267522	T;T	0.66995	-0.24;-0.24	5.65	-0.323	0.12709	.	0.318283	0.34628	N	0.003820	T	0.32466	0.0830	N	0.04880	-0.145	0.23501	N	0.997543	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	10	0.11182	T	0.66	.	2.773	0.05340	0.3139:0.2183:0.3727:0.0951	.	361	Q96FK6	WDR89_HUMAN	D	361	ENSP00000378399:E361D;ENSP00000267522:E361D	ENSP00000267522:E361D	E	-	3	2	WDR89	63135331	0.113000	0.22115	0.997000	0.53966	0.647000	0.38526	-0.647000	0.05397	0.018000	0.15052	-0.282000	0.10007	GAG		0.383	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666	
WDR89	112840	broad.mit.edu	37	14	64066022	64066022	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64066022A>G	ENST00000394942.2	-	2	727	c.639T>C	c.(637-639)tgT>tgC	p.C213C	WDR89_ENST00000267522.3_Silent_p.C213C|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	213								p.C213C(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AAATTGAGTTACAGGTTGTAA	0.383																																					p.C213C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T639C	14						.						109.0	105.0	106.0					14																	64066022		2203	4300	6503	63135775	SO:0001819	synonymous_variant	112840	exon3			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.639T>C	14.37:g.64066022A>G			63135775	NM_080666		Silent	SNP	ENST00000394942.2	37	CCDS9759.1																																																																																				0.383	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666	
WDR89	112840	broad.mit.edu	37	14	64066562	64066562	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64066562C>A	ENST00000394942.2	-	2	187	c.99G>T	c.(97-99)aaG>aaT	p.K33N	WDR89_ENST00000267522.3_Missense_Mutation_p.K33N|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	33								p.K33N(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTTGGACAGTCTTTGATGTGT	0.348																																					p.K33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	14						.						78.0	81.0	80.0					14																	64066562		2203	4300	6503	63136315	SO:0001583	missense	112840	exon3			AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.99G>T	14.37:g.64066562C>A	ENSP00000378399:p.Lys33Asn		63136315	NM_080666		Missense_Mutation	SNP	ENST00000394942.2	37	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666437	0.29604	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.68181	-0.31;-0.31;0.89	5.93	1.39	0.22231	.	0.313762	0.31071	N	0.008315	T	0.45357	0.1338	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.15292	-1.0442	10	0.17832	T	0.49	.	4.9792	0.14157	0.0:0.4344:0.1517:0.4139	.	33	Q96FK6	WDR89_HUMAN	N	33	ENSP00000378399:K33N;ENSP00000267522:K33N;ENSP00000451702:K33N	ENSP00000267522:K33N	K	-	3	2	WDR89	63136315	0.174000	0.23070	0.386000	0.26170	0.513000	0.34164	0.046000	0.14035	0.364000	0.24374	0.655000	0.94253	AAG		0.348	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666	
SGPP1	81537	broad.mit.edu	37	14	64152941	64152941	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64152941C>T	ENST00000247225.6	-	3	1302	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	403					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.R403Q(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TCTTGCTTTTCGAATATCATC	0.348																																					p.R403Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1208A	14						.						153.0	135.0	141.0					14																	64152941		2203	4300	6503	63222694	SO:0001583	missense	81537	exon3			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1208G>A	14.37:g.64152941C>T	ENSP00000247225:p.Arg403Gln		63222694	NM_030791	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449073	0.63178	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.072428	0.56097	D	0.000033	T	0.61887	0.2383	M	0.76002	2.32	0.52501	D	0.999953	D	0.58970	0.984	P	0.47673	0.554	T	0.58792	-0.7574	9	0.14252	T	0.57	-1.5609	14.7663	0.69642	0.0:0.9316:0.0:0.0684	.	403	Q9BX95	SGPP1_HUMAN	Q	403	.	ENSP00000247225:R403Q	R	-	2	0	SGPP1	63222694	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	4.625000	0.61262	2.885000	0.99019	0.655000	0.94253	CGA		0.348	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791	
SYNE2	23224	broad.mit.edu	37	14	64461912	64461912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64461912G>T	ENST00000344113.4	+	23	3144	c.2932G>T	c.(2932-2934)Gaa>Taa	p.E978*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E978*|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E978*|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	978					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E978*(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTCATCAAAGAACATGAGGT	0.318																																					p.E978X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2932T	14						.						47.0	46.0	46.0					14																	64461912		1842	4074	5916	63531665	SO:0001587	stop_gained	23224	exon23			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2932G>T	14.37:g.64461912G>T	ENSP00000341781:p.Glu978*		63531665	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	41	8.628649	0.98892	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.15	3.2	0.36748	.	0.122808	0.35525	N	0.003151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	13.6024	0.62026	0.0:0.2956:0.7044:0.0	.	.	.	.	X	978	.	ENSP00000261678:E978X	E	+	1	0	SYNE2	63531665	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	3.190000	0.50973	1.170000	0.42753	0.655000	0.94253	GAA		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64522810	64522810	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64522810G>A	ENST00000344113.4	+	49	10105	c.9893G>A	c.(9892-9894)cGa>cAa	p.R3298Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.R3331Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.R3298Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3298					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R3298Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGCCTCTTCGAAAACAAGAG	0.463																																					p.R3298Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9893A	14						.						77.0	70.0	72.0					14																	64522810		1933	4142	6075	63592563	SO:0001583	missense	23224	exon49			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9893G>A	14.37:g.64522810G>A	ENSP00000341781:p.Arg3298Gln		63592563	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	5.782	0.328636	0.10956	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34072	1.38;1.38;1.38	5.79	2.92	0.33932	.	1.601550	0.03355	N	0.196692	T	0.17874	0.0429	N	0.08118	0	0.20489	N	0.999896	B;B	0.15719	0.008;0.014	B;B	0.04013	0.001;0.001	T	0.23190	-1.0195	10	0.11794	T	0.64	.	2.3266	0.04224	0.2161:0.1267:0.5186:0.1385	.	3298;3298	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3298;3298;3331;3331	ENSP00000350719:R3298Q;ENSP00000341781:R3298Q;ENSP00000452570:R3331Q	ENSP00000261678:R3331Q	R	+	2	0	SYNE2	63592563	0.011000	0.17503	0.001000	0.08648	0.182000	0.23217	0.249000	0.18216	0.344000	0.23847	0.491000	0.48974	CGA		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64610596	64610596	+	Missense_Mutation	SNP	C	C	T	rs145018323	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64610596C>T	ENST00000344113.4	+	83	15625	c.15413C>T	c.(15412-15414)aCg>aTg	p.T5138M	SYNE2_ENST00000554584.1_Missense_Mutation_p.T5055M|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.T1772M|SYNE2_ENST00000358025.3_Missense_Mutation_p.T5138M|SYNE2_ENST00000357395.3_Missense_Mutation_p.T1523M|SYNE2_ENST00000394768.2_Missense_Mutation_p.T1523M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5138					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.T5138M(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATGAAAGAACGGAGTTTGCA	0.468																																					p.T5138M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15413T	14						.	C	MET/THR,MET/THR	0,4406		0,0,2203	264.0	267.0	266.0		15413,15413	5.3	0.9	14	dbSNP_134	266	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SYNE2	NM_015180.4,NM_182914.2	81,81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	5138/6886,5138/6908	64610596	3,13003	2203	4300	6503	63680349	SO:0001583	missense	23224	exon83			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15413C>T	14.37:g.64610596C>T	ENSP00000341781:p.Thr5138Met		63680349	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927627	0.92389	0.0	3.49E-4	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.52295	1.26;0.73;1.26;1.26;0.67;0.73	5.33	5.33	0.75918	.	0.000000	0.52532	D	0.000074	T	0.72898	0.3518	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.953;0.961	T	0.77094	-0.2715	10	0.72032	D	0.01	.	18.9967	0.92817	0.0:1.0:0.0:0.0	.	1523;5055;5138;5138	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	M	5138;1523;5138;5055;5061;1772;1523	ENSP00000350719:T5138M;ENSP00000349969:T1523M;ENSP00000341781:T5138M;ENSP00000452570:T5055M;ENSP00000450831:T1772M;ENSP00000378249:T1523M	ENSP00000261678:T5061M	T	+	2	0	SYNE2	63680349	1.000000	0.71417	0.886000	0.34754	0.990000	0.78478	5.877000	0.69675	2.479000	0.83701	0.650000	0.86243	ACG		0.468	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64637010	64637010	+	Missense_Mutation	SNP	C	C	T	rs540618925		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:64637010C>T	ENST00000344113.4	+	94	17277	c.17065C>T	c.(17065-17067)Cgg>Tgg	p.R5689W	SYNE2_ENST00000554584.1_Missense_Mutation_p.R5564W|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.R2323W|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5689W|SYNE2_ENST00000357395.3_Missense_Mutation_p.R2074W|SYNE2_ENST00000394768.2_Missense_Mutation_p.R2074W	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5689					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R5689W(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGGGTGTTCGGCAGAGGAA	0.488																																					p.R5689W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17065T	14						.						155.0	133.0	140.0					14																	64637010		2203	4300	6503	63706763	SO:0001583	missense	23224	exon94			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17065C>T	14.37:g.64637010C>T	ENSP00000341781:p.Arg5689Trp		63706763	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125328	0.20959	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.50277	0.75;4.05;0.75;1.3;4.1;4.05	5.56	3.69	0.42338	.	1.047180	0.07564	N	0.917449	T	0.43590	0.1254	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B	0.20887	0.016;0.009;0.007;0.017;0.049	B;B;B;B;B	0.15484	0.013;0.004;0.002;0.004;0.007	T	0.13575	-1.0504	10	0.66056	D	0.02	.	10.8878	0.46976	0.0:0.7982:0.1311:0.0707	.	2074;77;5564;5689;5689	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	W	5689;2074;5689;5564;5570;2323;2074	ENSP00000350719:R5689W;ENSP00000349969:R2074W;ENSP00000341781:R5689W;ENSP00000452570:R5564W;ENSP00000450831:R2323W;ENSP00000378249:R2074W	ENSP00000261678:R5570W	R	+	1	2	SYNE2	63706763	0.365000	0.25006	0.212000	0.23672	0.040000	0.13550	0.834000	0.27518	0.670000	0.31165	0.460000	0.39030	CGG		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
FNTB	2342	broad.mit.edu	37	14	65511054	65511054	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:65511054G>A	ENST00000246166.2	+	9	1082	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	MIR4706_ENST00000582134.1_RNA|FNTB_ENST00000542227.1_Missense_Mutation_p.R237Q|FNTB_ENST00000447296.2_Missense_Mutation_p.R317Q|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.R318Q	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	283				R -> L (in Ref. 6; AAA86286). {ECO:0000305}.	negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.R283Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGGCAGATGCGATTTGAAGGA	0.577																																					p.R283Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848A	14						.						145.0	143.0	143.0					14																	65511054		2203	4300	6503	64580807	SO:0001583	missense	2342	exon9				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.848G>A	14.37:g.65511054G>A	ENSP00000246166:p.Arg283Gln		64580807	NM_002028	B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664494	0.67700	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.67	4.78	0.61160	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.27229	0.172;0.036;0.029;0.1	B;B;B;B	0.14023	0.009;0.01;0.003;0.01	T	0.06516	-1.0822	10	0.13853	T	0.58	-19.2187	13.7462	0.62876	0.0756:0.0:0.9244:0.0	.	286;237;317;283	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	Q	237;318;317;39;283	ENSP00000443140:R237Q;ENSP00000447121:R318Q;ENSP00000406393:R317Q;ENSP00000399362:R39Q;ENSP00000246166:R283Q	ENSP00000246166:R283Q	R	+	2	0	FNTB;AL139022.1	64580807	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.724000	0.74747	1.399000	0.46721	0.511000	0.50034	CGA		0.577	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028	
PLEKHH1	57475	broad.mit.edu	37	14	68053937	68053937	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68053937G>A	ENST00000329153.5	+	29	4212	c.4080G>A	c.(4078-4080)ggG>ggA	p.G1360G	PLEKHH1_ENST00000417684.2_Missense_Mutation_p.A302T	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1360						cytoskeleton (GO:0005856)		p.G1360G(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTACCAAGGGGCCAACGTTGC	0.512																																					p.G1360G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4080A	14						.						127.0	134.0	131.0					14																	68053937		1950	4127	6077	67123690	SO:0001819	synonymous_variant	57475	exon29			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.4080G>A	14.37:g.68053937G>A			67123690	NM_020715	A6H8X6|Q6PJL4|Q6ZWC7	Silent	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460471	0.84317	.	.	ENSG00000054690	ENST00000417684	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.24052	N	0.996047	P	0.49253	0.921	B	0.35182	0.197	T	0.30679	-0.9970	7	0.87932	D	0	.	11.9684	0.53049	0.0788:0.0:0.9212:0.0	.	302	E7ESY2	.	T	302	.	ENSP00000397712:A302T	A	+	1	0	PLEKHH1	67123690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.754000	0.38369	2.837000	0.97791	0.655000	0.94253	GCC		0.512	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054	
PIGH	5283	broad.mit.edu	37	14	68060478	68060478	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68060478G>T	ENST00000216452.4	-	2	455	c.372C>A	c.(370-372)atC>atA	p.I124I	PIGH_ENST00000559581.1_Silent_p.I85I|PIGH_ENST00000560722.1_Silent_p.I124I	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	124					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.I124I(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		TGGCCTCATTGATGACAATAT	0.403																																					p.I124I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372A	14						.						88.0	69.0	75.0					14																	68060478		2203	4300	6503	67130231	SO:0001819	synonymous_variant	5283	exon2				CCDS9784.1	14q24.1	2013-02-26	2006-06-28		ENSG00000100564	ENSG00000100564	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8964	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase subunit"""	600154	"""phosphatidylinositol glycan, class H"""			8204896	Standard	NM_004569		Approved	GPI-H	uc001xjr.1	Q14442	OTTHUMG00000171806	ENST00000216452.4:c.372C>A	14.37:g.68060478G>T			67130231	NM_004569	B2RAA4	Silent	SNP	ENST00000216452.4	37	CCDS9784.1																																																																																				0.403	PIGH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415189.2	NM_004569	
ARG2	384	broad.mit.edu	37	14	68117554	68117554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68117554G>T	ENST00000261783.3	+	8	1162	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	328					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.E328*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TCAGACAAGAGAAGGAGGGCA	0.463																																					p.E328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G982T	14						.						140.0	104.0	116.0					14																	68117554		2203	4300	6503	67187307	SO:0001587	stop_gained	384	exon8			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.982G>T	14.37:g.68117554G>T	ENSP00000261783:p.Glu328*		67187307	NM_001172	B2R690|Q6FHY8	Nonsense_Mutation	SNP	ENST00000261783.3	37	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741568	0.96873	.	.	ENSG00000081181	ENST00000261783	.	.	.	5.09	5.09	0.68999	.	0.047889	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6895	0.91578	0.0:0.0:1.0:0.0	.	.	.	.	X	328	.	ENSP00000261783:E328X	E	+	1	0	ARG2	67187307	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.704000	0.74639	2.661000	0.90470	0.655000	0.94253	GAA		0.463	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	
RDH11	51109	broad.mit.edu	37	14	68162372	68162372	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68162372G>T	ENST00000381346.4	-	1	159	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	RDH11_ENST00000428130.2_Missense_Mutation_p.L17M|RDH11_ENST00000553384.1_Missense_Mutation_p.L17M	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	17					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.L17M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GCCATATACAGAAGGAAGGGC	0.562																																					p.L17M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	14						.						69.0	61.0	64.0					14																	68162372		2203	4300	6503	67232125	SO:0001583	missense	51109	exon1			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.49C>A	14.37:g.68162372G>T	ENSP00000370750:p.Leu17Met		67232125	NM_016026	A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.486635	0.26686	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000557273;ENST00000557726	D;D;D;D;D	0.90324	-1.84;-1.54;-1.97;-2.35;-2.65	5.0	5.0	0.66597	.	0.181870	0.35646	N	0.003065	D	0.90456	0.7011	N	0.14661	0.345	0.48185	D	0.9996	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.87578	0.996;0.998;0.996	D	0.90481	0.4460	10	0.42905	T	0.14	.	15.5193	0.75854	0.0:0.0:1.0:0.0	.	17;17;17	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	M	17	ENSP00000370750:L17M;ENSP00000452079:L17M;ENSP00000416395:L17M;ENSP00000450651:L17M;ENSP00000450435:L17M	ENSP00000370750:L17M	L	-	1	2	RDH11	67232125	1.000000	0.71417	0.993000	0.49108	0.007000	0.05969	2.344000	0.44010	2.776000	0.95493	0.651000	0.88453	CTG		0.562	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3		
RDH12	145226	broad.mit.edu	37	14	68191929	68191929	+	Missense_Mutation	SNP	G	G	A	rs148334092		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68191929G>A	ENST00000551171.1	+	5	625	c.301G>A	c.(301-303)Gac>Aac	p.D101N	RDH12_ENST00000267502.3_Missense_Mutation_p.D101N|RDH12_ENST00000539142.1_Missense_Mutation_p.D101N	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	101			D -> N. {ECO:0000269|PubMed:16269441}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.D101N(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	GGACCTATCCGACACCAAATC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19652	0.0		0.0	False		,,,				2504	0.0				p.D101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	14						.	G	ASN/ASP	8,4398	14.3+/-33.2	0,8,2195	101.0	97.0	98.0		301	4.6	0.9	14	dbSNP_134	98	0,8600		0,0,4300	yes	missense	RDH12	NM_152443.2	23	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	101/317	68191929	8,12998	2203	4300	6503	67261682	SO:0001583	missense	145226	exon5			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.301G>A	14.37:g.68191929G>A	ENSP00000449079:p.Asp101Asn		67261682	NM_152443	B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	CCDS9787.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.51	3.638713	0.67130	0.001816	0.0	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.91631	-2.88;-2.88;-2.88	5.52	4.63	0.57726	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95166	0.8433	M	0.73319	2.225	0.47276	D	0.999377	D	0.89917	1.0	D	0.97110	1.0	D	0.95336	0.8434	10	0.66056	D	0.02	.	12.8512	0.57858	0.0746:0.0:0.9254:0.0	.	101	Q96NR8	RDH12_HUMAN	N	101	ENSP00000449079:D101N;ENSP00000267502:D101N;ENSP00000438715:D101N	ENSP00000267502:D101N	D	+	1	0	RDH12	67261682	1.000000	0.71417	0.863000	0.33907	0.319000	0.28217	7.243000	0.78219	1.577000	0.49804	0.563000	0.77884	GAC		0.527	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1		
ZFYVE26	23503	broad.mit.edu	37	14	68221958	68221958	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68221958G>A	ENST00000347230.4	-	37	6934	c.6796C>T	c.(6796-6798)Cgg>Tgg	p.R2266W	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.R112W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2266					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.R2266W(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGCGGCCCGAACTTGGTCC	0.468																																					p.R2266W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6796T	14						.						87.0	81.0	83.0					14																	68221958		2203	4300	6503	67291711	SO:0001583	missense	23503	exon37			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6796C>T	14.37:g.68221958G>A	ENSP00000251119:p.Arg2266Trp		67291711	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178839	0.94846	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.59638	0.86;0.25	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79878	-0.1617	10	0.87932	D	0	-23.9975	20.0745	0.97737	0.0:0.0:1.0:0.0	.	112;2266	Q96H43;Q68DK2	.;ZFY26_HUMAN	W	2266;2245;112	ENSP00000251119:R2266W;ENSP00000452142:R112W	ENSP00000251119:R2266W	R	-	1	2	ZFYVE26	67291711	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.748000	0.94277	0.462000	0.41574	CGG		0.468	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ZFYVE26	23503	broad.mit.edu	37	14	68274532	68274532	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:68274532G>A	ENST00000347230.4	-	5	607	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L157F	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	157					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L157F(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGATCCCAGAGCACAGAGACA	0.602																																					p.L157F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469T	14						.						109.0	110.0	110.0					14																	68274532		2203	4300	6503	67344285	SO:0001583	missense	23503	exon5			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.469C>T	14.37:g.68274532G>A	ENSP00000251119:p.Leu157Phe		67344285	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602805	0.46423	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.58210	0.54;0.35	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.66939	2.045	0.50467	D	0.999875	D;D;B	0.89917	1.0;1.0;0.09	D;D;B	0.91635	0.999;0.999;0.038	T	0.69888	-0.5023	10	0.54805	T	0.06	-14.6528	13.6124	0.62088	0.0705:0.0:0.9295:0.0	.	157;157;157	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	F	157	ENSP00000251119:L157F;ENSP00000450603:L157F	ENSP00000251119:L157F	L	-	1	0	ZFYVE26	67344285	1.000000	0.71417	0.999000	0.59377	0.584000	0.36387	3.140000	0.50585	2.837000	0.97791	0.591000	0.81541	CTC		0.602	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ACTN1	87	broad.mit.edu	37	14	69351019	69351019	+	Missense_Mutation	SNP	C	C	T	rs368356125		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:69351019C>T	ENST00000193403.6	-	14	1884	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	ACTN1_ENST00000394419.4_Missense_Mutation_p.E501K|ACTN1_ENST00000438964.2_Missense_Mutation_p.E501K|ACTN1_ENST00000538545.2_Missense_Mutation_p.E501K|ACTN1_ENST00000376839.3_Missense_Mutation_p.E436K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	501	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.E501K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCAGTTTCTCGGTCCGCTGG	0.557																																					p.E501K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1501A	14						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	105.0	88.0	94.0		1501,1501,1501	5.0	1.0	14		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ACTN1	NM_001102.3,NM_001130004.1,NM_001130005.1	56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	501/893,501/915,501/888	69351019	1,13005	2203	4300	6503	68420772	SO:0001583	missense	87	exon14			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1501G>A	14.37:g.69351019C>T	ENSP00000193403:p.Glu501Lys		68420772	NM_001130005	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.577963|5.577963	0.96565|0.96565	0.0|0.0	1.16E-4|1.16E-4	ENSG00000072110|ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000544964|ENST00000553290	T;T;T;T;D;T|.	0.82344|.	-1.41;-1.46;-1.44;-1.48;-1.6;0.74|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.054502|.	0.64402|.	D|.	0.000001|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;P;P;P;P|.	0.55385|.	0.971;0.537;0.82;0.831;0.508|.	P;B;B;B;B|.	0.59643|.	0.861;0.217;0.374;0.37;0.345|.	T|T	0.77707|0.77707	-0.2487|-0.2487	10|5	0.48119|.	T|.	0.1|.	.|.	18.4485|18.4485	0.90695|0.90695	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;501;501;501;148|.	B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.;.;.;ACTN1_HUMAN;.|.	K|Q	501;501;501;436;501;91|1	ENSP00000193403:E501K;ENSP00000377941:E501K;ENSP00000414272:E501K;ENSP00000366035:E436K;ENSP00000439828:E501K;ENSP00000444422:E91K|.	ENSP00000193403:E501K|.	E|R	-|-	1|2	0|0	ACTN1|ACTN1	68420772|68420772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	7.651000|7.651000	0.83577|0.83577	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.557	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
GALNT16	57452	broad.mit.edu	37	14	69808474	69808474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:69808474G>T	ENST00000337827.4	+	12	1591	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	GALNT16_ENST00000553669.1_Nonsense_Mutation_p.E422*|GALNT16_ENST00000448469.3_Nonsense_Mutation_p.E422*	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	422					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E422*(1)									CGTCTACCCAGAGCTCACGTG	0.607																																					p.E422X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1264T	14						.						75.0	49.0	58.0					14																	69808474		2203	4300	6503	68878227	SO:0001587	stop_gained	57452	exon12			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1264G>T	14.37:g.69808474G>T	ENSP00000336729:p.Glu422*		68878227	NM_020692	Q4KMG3|Q58A55|Q9ULT9	Nonsense_Mutation	SNP	ENST00000337827.4	37	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	39	7.533575	0.98342	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	.	.	.	5.48	5.48	0.80851	.	0.051440	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.364	0.94454	0.0:0.0:1.0:0.0	.	.	.	.	X	422;48;422;422	.	ENSP00000336729:E422X	E	+	1	0	GALNTL1	68878227	1.000000	0.71417	0.968000	0.41197	0.954000	0.61252	9.615000	0.98356	2.547000	0.85894	0.655000	0.94253	GAG		0.607	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368	
SRSF5	6430	broad.mit.edu	37	14	70235943	70235943	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70235943A>C	ENST00000553521.1	+	6	1794	c.341A>C	c.(340-342)aAt>aCt	p.N114T	SRSF5_ENST00000557154.1_Missense_Mutation_p.N114T|SRSF5_ENST00000394366.2_Missense_Mutation_p.N114T|SRSF5_ENST00000553635.1_Missense_Mutation_p.N111T|SRSF5_ENST00000554021.1_Missense_Mutation_p.N114T|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Missense_Mutation_p.N114T|SRSF5_ENST00000555349.1_Missense_Mutation_p.N114T			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	114	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N114T(1)		large_intestine(1)|liver(1)	2						ATAGTTGAGAATTTATCCTCA	0.348																																					p.N114T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A341C	14						.						71.0	71.0	71.0					14																	70235943		2203	4300	6503	69305696	SO:0001583	missense	6430	exon5			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.341A>C	14.37:g.70235943A>C	ENSP00000452123:p.Asn114Thr		69305696	NM_001039465	O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580382	0.65992	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T	0.38401	1.63;1.63;1.14;1.63;1.14;1.63;1.16;1.14	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78704	0.4325	H	0.99820	4.81	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.992;0.963	D	0.89026	0.3438	10	0.87932	D	0	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	111;114	Q13243-3;Q13243	.;SRSF5_HUMAN	T	114;114;114;114;114;111;114;114	ENSP00000452123:N114T;ENSP00000377892:N114T;ENSP00000452449:N114T;ENSP00000451088:N114T;ENSP00000402734:N114T;ENSP00000451391:N111T;ENSP00000452090:N114T;ENSP00000450918:N114T	ENSP00000377892:N114T	N	+	2	0	SRSF5	69305696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.224000	0.95209	2.088000	0.63022	0.533000	0.62120	AAT		0.348	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465	
SLC10A1	6554	broad.mit.edu	37	14	70263850	70263850	+	Missense_Mutation	SNP	G	G	A	rs201015997		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70263850G>A	ENST00000216540.4	-	1	156	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	8					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.A8V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	GTTGAATGGGGCAGACGCGTT	0.562																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	14						.						75.0	71.0	72.0					14																	70263850		2203	4300	6503	69333603	SO:0001583	missense	6554	exon1			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.23C>T	14.37:g.70263850G>A	ENSP00000216540:p.Ala8Val		69333603	NM_003049	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902462	0.33628	.	.	ENSG00000100652	ENST00000216540	T	0.08546	3.08	5.23	0.0869	0.14448	.	0.925480	0.09272	N	0.825024	T	0.04588	0.0125	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43048	-0.9415	10	0.48119	T	0.1	-1.2777	1.7573	0.02985	0.2369:0.139:0.4808:0.1433	.	8	Q14973	NTCP_HUMAN	V	8	ENSP00000216540:A8V	ENSP00000216540:A8V	A	-	2	0	SLC10A1	69333603	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.116000	0.15561	-0.146000	0.11274	0.561000	0.74099	GCC		0.562	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1		
SLC8A3	6547	broad.mit.edu	37	14	70515532	70515532	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70515532C>A	ENST00000381269.2	-	7	3112	c.2359G>T	c.(2359-2361)Gat>Tat	p.D787Y	SLC8A3_ENST00000394330.2_Missense_Mutation_p.D144Y|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D785Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D781Y|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D785Y|SLC8A3_ENST00000216568.7_Missense_Mutation_p.D158Y|SLC8A3_ENST00000533541.1_Missense_Mutation_p.D144Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D784Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	787					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.D787Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGACTGAATCTTTGAGACCA	0.532																																					p.D785Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2353T	14						.						66.0	53.0	58.0					14																	70515532		2203	4300	6503	69585285	SO:0001583	missense	6547	exon7			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2359G>T	14.37:g.70515532C>A	ENSP00000370669:p.Asp787Tyr		69585285	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762506	0.89932	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;0.52	5.78	5.78	0.91487	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	H	0.97516	4.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999;0.998	D	0.91333	0.5091	10	0.87932	D	0	.	20.0165	0.97478	0.0:1.0:0.0:0.0	.	144;781;787;785;784;158	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	Y	781;787;785;158;144;784;785;144	ENSP00000349392:D781Y;ENSP00000370669:D787Y;ENSP00000350560:D785Y;ENSP00000216568:D158Y;ENSP00000377863:D144Y;ENSP00000436688:D784Y;ENSP00000433531:D785Y;ENSP00000437103:D144Y	ENSP00000216568:D158Y	D	-	1	0	SLC8A3	69585285	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.757000	0.85209	2.740000	0.93945	0.455000	0.32223	GAT		0.532	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
SLC8A3	6547	broad.mit.edu	37	14	70515604	70515604	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70515604G>T	ENST00000381269.2	-	7	3040	c.2287C>A	c.(2287-2289)Ctc>Atc	p.L763I	SLC8A3_ENST00000394330.2_Missense_Mutation_p.L120I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.L761I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.L757I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.L761I|SLC8A3_ENST00000216568.7_Missense_Mutation_p.L134I|SLC8A3_ENST00000533541.1_Missense_Mutation_p.L120I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.L760I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	763					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.L763I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCAATGATGAGGATGGAGACG	0.572																																					p.L761I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2281A	14						.						78.0	65.0	69.0					14																	70515604		2203	4300	6503	69585357	SO:0001583	missense	6547	exon7			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2287C>A	14.37:g.70515604G>T	ENSP00000370669:p.Leu763Ile		69585357	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	9.543	1.113765	0.20795	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;0.89	5.52	5.52	0.82312	Sodium/calcium exchanger membrane region (1);	0.131490	0.52532	D	0.000061	T	0.60741	0.2292	N	0.11023	0.085	0.37749	D	0.925915	B;B;B;D;D;B	0.63046	0.0;0.002;0.004;0.979;0.992;0.0	B;B;B;D;D;B	0.76071	0.012;0.008;0.02;0.982;0.987;0.005	T	0.61262	-0.7098	10	0.19590	T	0.45	.	14.2959	0.66314	0.0:0.0:0.8514:0.1486	.	120;757;763;761;760;134	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	I	757;763;761;134;120;760;761;120	ENSP00000349392:L757I;ENSP00000370669:L763I;ENSP00000350560:L761I;ENSP00000216568:L134I;ENSP00000377863:L120I;ENSP00000436688:L760I;ENSP00000433531:L761I;ENSP00000437103:L120I	ENSP00000216568:L134I	L	-	1	0	SLC8A3	69585357	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.951000	0.29135	2.591000	0.87537	0.455000	0.32223	CTC		0.572	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
ADAM21	8747	broad.mit.edu	37	14	70925820	70925820	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70925820C>A	ENST00000603540.1	+	2	1862	c.1604C>A	c.(1603-1605)tCt>tAt	p.S535Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.S535Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	535	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S535Y(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAAATCAATTCTCAGGGAAAC	0.378																																					p.S535Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1604A	14						.						25.0	50.0	42.0					14																	70925820		2112	4251	6363	69995573	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1604C>A	14.37:g.70925820C>A	ENSP00000474385:p.Ser535Tyr		69995573	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530998	0.27387	.	.	ENSG00000139985	ENST00000267499	T	0.24538	1.85	4.35	2.47	0.30058	ADAM, cysteine-rich (2);	1.549470	0.04382	U	0.361039	T	0.41050	0.1142	M	0.82823	2.61	0.09310	N	1	B	0.26120	0.142	B	0.32090	0.14	T	0.48647	-0.9017	10	0.87932	D	0	.	11.4816	0.50328	0.0:0.8402:0.0:0.1598	.	535	Q9UKJ8	ADA21_HUMAN	Y	535	ENSP00000267499:S535Y	ENSP00000267499:S535Y	S	+	2	0	ADAM21	69995573	0.000000	0.05858	0.635000	0.29338	0.614000	0.37383	-0.518000	0.06267	1.150000	0.42419	0.460000	0.39030	TCT		0.378	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM21	8747	broad.mit.edu	37	14	70926283	70926283	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:70926283T>C	ENST00000603540.1	+	2	2325	c.2067T>C	c.(2065-2067)atT>atC	p.I689I	ADAM21_ENST00000267499.3_Silent_p.I689I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	689					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I689I(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGATTGTGATTCCTTCTTTGT	0.478																																					p.I689I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2067C	14						.						79.0	64.0	69.0					14																	70926283		2203	4300	6503	69996036	SO:0001819	synonymous_variant	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2067T>C	14.37:g.70926283T>C			69996036	NM_003813	O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	CCDS9804.1																																																																																				0.478	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
MAP3K9	4293	broad.mit.edu	37	14	71216752	71216752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:71216752G>A	ENST00000554752.2	-	4	1047	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.R44*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.R350*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.R87*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.R350*	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R350*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCAATGCCTCGAAAGGGCACC	0.488																																					p.R350X	GBM(114;411 1587 13539 28235 50070)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1048T	14						.						131.0	118.0	123.0					14																	71216752		2203	4300	6503	70286505	SO:0001587	stop_gained	4293	exon4			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1048C>T	14.37:g.71216752G>A	ENSP00000451612:p.Arg350*		70286505	NM_033141	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Nonsense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	G	35	5.482555	0.96307	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	350;350;44;350;87;78	.	ENSP00000005198:R350X	R	-	1	2	MAP3K9	70286505	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	7.953000	0.87836	2.808000	0.96608	0.655000	0.94253	CGA		0.488	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		
PCNX	22990	broad.mit.edu	37	14	71500710	71500710	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:71500710C>A	ENST00000304743.2	+	18	4177	c.3731C>A	c.(3730-3732)tCt>tAt	p.S1244Y	PCNX_ENST00000238570.5_Missense_Mutation_p.S1244Y|PCNX_ENST00000439984.3_Missense_Mutation_p.S1133Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1244						integral component of membrane (GO:0016021)		p.S1244Y(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACCCTCTATCTGAAGTAAAA	0.308																																					p.S1244Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3731A	14						.						54.0	60.0	58.0					14																	71500710		2202	4293	6495	70570463	SO:0001583	missense	22990	exon18			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3731C>A	14.37:g.71500710C>A	ENSP00000304192:p.Ser1244Tyr		70570463	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462138|4.462138	0.84425|0.84425	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.10960	.|3.26;3.24;2.82	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.122175	.|0.64402	.|D	.|0.000016	T|T	0.31734|0.31734	0.0806|0.0806	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.981;0.998	.|D;P;D	.|0.80764	.|0.994;0.76;0.928	T|T	0.01945|0.01945	-1.1242|-1.1242	5|10	.|0.72032	.|D	.|0.01	.|.	18.7492|18.7492	0.91807|0.91807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1244;1133;1244	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	M|Y	303|1244;1244;1133	.|ENSP00000304192:S1244Y;ENSP00000238570:S1244Y;ENSP00000396617:S1133Y	.|ENSP00000238570:S1244Y	L|S	+|+	1|2	2|0	PCNX|PCNX	70570463|70570463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.081000|7.081000	0.76844|0.76844	2.420000|2.420000	0.82092|0.82092	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.308	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
PCNX	22990	broad.mit.edu	37	14	71511997	71511997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:71511997C>T	ENST00000304743.2	+	20	4461	c.4015C>T	c.(4015-4017)Cga>Tga	p.R1339*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.R1339*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.R1228*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1339						integral component of membrane (GO:0016021)		p.R1339*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTATGAAGTTCGAAGTAAGTA	0.343																																					p.R1339X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4015T	14						.						105.0	95.0	98.0					14																	71511997		2202	4300	6502	70581750	SO:0001587	stop_gained	22990	exon20			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4015C>T	14.37:g.71511997C>T	ENSP00000304192:p.Arg1339*		70581750	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	37	6.158134	0.97334	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.72	4.81	0.61882	.	0.121477	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2765	0.82646	0.1336:0.8664:0.0:0.0	.	.	.	.	X	1339;1339;1228	.	ENSP00000238570:R1339X	R	+	1	2	PCNX	70581750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.069000	0.41481	1.510000	0.48803	0.655000	0.94253	CGA		0.343	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
PCNX	22990	broad.mit.edu	37	14	71513739	71513739	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:71513739G>T	ENST00000304743.2	+	21	4523	c.4077G>T	c.(4075-4077)aaG>aaT	p.K1359N	PCNX_ENST00000238570.5_Missense_Mutation_p.K1359N|PCNX_ENST00000439984.3_Missense_Mutation_p.K1248N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1359						integral component of membrane (GO:0016021)		p.K1359N(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTGTGGAGAAGAATATAATCT	0.368																																					p.K1359N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4077T	14						.						118.0	108.0	111.0					14																	71513739		2203	4300	6503	70583492	SO:0001583	missense	22990	exon21			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4077G>T	14.37:g.71513739G>T	ENSP00000304192:p.Lys1359Asn		70583492	NM_014982	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.797447|2.797447	0.50208|0.50208	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.13420|.	2.94;2.86;2.59|.	4.8|4.8	1.91|1.91	0.25777|0.25777	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71099|0.71099	0.3300|0.3300	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999991|0.999991	P;D;D|.	0.89917|.	0.944;1.0;0.998|.	P;D;P|.	0.91635|.	0.714;0.999;0.866|.	T|T	0.69420|0.69420	-0.5150|-0.5150	10|5	0.87932|.	D|.	0|.	.|.	8.8391|8.8391	0.35131|0.35131	0.3106:0.0:0.6894:0.0|0.3106:0.0:0.6894:0.0	.|.	1359;1248;1359|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	N|I	1359;1359;1248|418	ENSP00000304192:K1359N;ENSP00000238570:K1359N;ENSP00000396617:K1248N|.	ENSP00000238570:K1359N|.	K|R	+|+	3|2	2|0	PCNX|PCNX	70583492|70583492	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.494000|3.494000	0.53273|0.53273	0.542000|0.542000	0.28846|0.28846	0.455000|0.455000	0.32223|0.32223	AAG|AGA		0.368	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
SIPA1L1	26037	broad.mit.edu	37	14	72055295	72055295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72055295C>T	ENST00000555818.1	+	2	1054	c.706C>T	c.(706-708)Cga>Tga	p.R236*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.R236*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.R236*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	236					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R236*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAATCTGATCGAGGTCCAAC	0.433																																					p.R236X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C706T	14						.						104.0	93.0	97.0					14																	72055295		2203	4300	6503	71125048	SO:0001587	stop_gained	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.706C>T	14.37:g.72055295C>T	ENSP00000450832:p.Arg236*		71125048	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	40	8.514703	0.98843	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8969	19.7327	0.96190	0.1139:0.886:0.0:0.0	.	.	.	.	X	236	.	ENSP00000351352:R236X	R	+	1	2	SIPA1L1	71125048	1.000000	0.71417	0.549000	0.28204	0.001000	0.01503	4.774000	0.62339	0.908000	0.36671	-0.808000	0.03180	CGA		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72055407	72055407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72055407G>T	ENST00000555818.1	+	2	1166	c.818G>T	c.(817-819)aGg>aTg	p.R273M	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R273M|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R273M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	273					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R273M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAACCTCAGGCTTTTTAAG	0.438																																					p.R273M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818T	14						.						66.0	68.0	67.0					14																	72055407		2203	4300	6503	71125160	SO:0001583	missense	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.818G>T	14.37:g.72055407G>T	ENSP00000450832:p.Arg273Met		71125160	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153442	0.78114	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.47528	0.84;0.84;0.84	6.07	6.07	0.98685	.	0.130697	0.64402	D	0.000001	T	0.57621	0.2066	L	0.36672	1.1	0.80722	D	1	D;D;D	0.61080	0.972;0.967;0.989	P;P;P	0.59012	0.731;0.78;0.85	T	0.46498	-0.9187	10	0.32370	T	0.25	-32.0357	20.6593	0.99626	0.0:0.0:1.0:0.0	.	273;273;273	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	M	273	ENSP00000370630:R273M;ENSP00000450832:R273M;ENSP00000351352:R273M	ENSP00000351352:R273M	R	+	2	0	SIPA1L1	71125160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.796000	0.85898	2.885000	0.99019	0.655000	0.94253	AGG		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72055806	72055806	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72055806A>C	ENST00000555818.1	+	2	1565	c.1217A>C	c.(1216-1218)aAa>aCa	p.K406T	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K406T|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K406T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	406					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.K406T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAGATGATAAAAGCAATGAG	0.463																																					p.K406T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1217C	14						.						92.0	93.0	92.0					14																	72055806		2203	4300	6503	71125559	SO:0001583	missense	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1217A>C	14.37:g.72055806A>C	ENSP00000450832:p.Lys406Thr		71125559	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673927	0.67928	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.79247	-1.25;-1.25;-1.25	5.88	5.88	0.94601	.	0.041708	0.85682	D	0.000000	D	0.86464	0.5939	M	0.67953	2.075	0.80722	D	1	B;P;D	0.71674	0.226;0.712;0.998	B;P;D	0.76071	0.132;0.525;0.987	D	0.85225	0.1029	10	0.34782	T	0.22	-25.9926	16.2792	0.82664	1.0:0.0:0.0:0.0	.	406;406;406	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	T	406	ENSP00000370630:K406T;ENSP00000450832:K406T;ENSP00000351352:K406T	ENSP00000351352:K406T	K	+	2	0	SIPA1L1	71125559	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.528000	0.81941	2.243000	0.73865	0.533000	0.62120	AAA		0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72055927	72055927	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72055927C>A	ENST00000555818.1	+	2	1686	c.1338C>A	c.(1336-1338)tcC>tcA	p.S446S	SIPA1L1_ENST00000381232.3_Silent_p.S446S|SIPA1L1_ENST00000358550.2_Silent_p.S446S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	446					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.S446S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAGTGCCTCCTTTGAGTCTA	0.448																																					p.S446S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338A	14						.						111.0	103.0	106.0					14																	72055927		2203	4300	6503	71125680	SO:0001819	synonymous_variant	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1338C>A	14.37:g.72055927C>A			71125680	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72056032	72056032	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72056032C>T	ENST00000555818.1	+	2	1791	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	SIPA1L1_ENST00000381232.3_Silent_p.I481I|SIPA1L1_ENST00000358550.2_Silent_p.I481I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	481					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.I481I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAGATACATCGTGGAACACG	0.398																																					p.I481I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	14						.						64.0	59.0	61.0					14																	72056032		2203	4300	6503	71125785	SO:0001819	synonymous_variant	26037	exon2			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1443C>T	14.37:g.72056032C>T			71125785	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.398	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72117181	72117181	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72117181C>T	ENST00000555818.1	+	5	2296	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R650W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R125W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R650W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	650	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R650W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGAGCGAGTTCGGCTCAAAGG	0.448																																					p.R650W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1948T	14						.						101.0	98.0	99.0					14																	72117181		2203	4300	6503	71186934	SO:0001583	missense	26037	exon5			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1948C>T	14.37:g.72117181C>T	ENSP00000450832:p.Arg650Trp		71186934	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299765	0.81136	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.53	4.63	0.57726	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.989;0.997;1.0;0.998	D	0.98561	1.0641	10	0.72032	D	0.01	-19.617	15.9931	0.80220	0.1358:0.8642:0.0:0.0	.	125;650;125;650;650	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	W	650;650;650;125;166	ENSP00000370630:R650W;ENSP00000450832:R650W;ENSP00000351352:R650W;ENSP00000440682:R125W;ENSP00000452450:R166W	ENSP00000351352:R650W	R	+	1	2	SIPA1L1	71186934	1.000000	0.71417	0.983000	0.44433	0.943000	0.58893	2.939000	0.48995	1.444000	0.47605	0.591000	0.81541	CGG		0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72138352	72138352	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72138352T>G	ENST00000555818.1	+	8	3120	c.2772T>G	c.(2770-2772)gtT>gtG	p.V924V	SIPA1L1_ENST00000381232.3_Silent_p.V924V|SIPA1L1_ENST00000537413.1_Silent_p.V399V|SIPA1L1_ENST00000358550.2_Silent_p.V924V	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	924					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.V924V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGAATGTGTTTCAGTGGGTA	0.413																																					p.V924V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2772G	14						.						75.0	72.0	73.0					14																	72138352		2203	4300	6503	71208105	SO:0001819	synonymous_variant	26037	exon8			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2772T>G	14.37:g.72138352T>G			71208105	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.413	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72152162	72152162	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72152162G>A	ENST00000555818.1	+	10	3536	c.3188G>A	c.(3187-3189)cGa>cAa	p.R1063Q	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1063Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R538Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1063Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R1063Q(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCCCTTCCGAAATAATAAC	0.507																																					p.R1063Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3188A	14						.						98.0	96.0	97.0					14																	72152162		2203	4300	6503	71221915	SO:0001583	missense	26037	exon10			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3188G>A	14.37:g.72152162G>A	ENSP00000450832:p.Arg1063Gln		71221915	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672643	0.96754	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.89123	-1.66;-1.64;-1.66;-2.47	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	D	0.93848	0.8032	M	0.72118	2.19	0.80722	D	1	P;B;D;P;D	0.69078	0.892;0.382;0.985;0.943;0.997	P;B;P;P;D	0.67725	0.601;0.043;0.768;0.565;0.953	D	0.92984	0.6409	10	0.45353	T	0.12	-9.3747	19.7112	0.96096	0.0:0.0:1.0:0.0	.	538;1063;538;1063;1063	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Q	1063;1063;1063;538	ENSP00000370630:R1063Q;ENSP00000450832:R1063Q;ENSP00000351352:R1063Q;ENSP00000440682:R538Q	ENSP00000351352:R1063Q	R	+	2	0	SIPA1L1	71221915	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.742000	0.91588	2.726000	0.93360	0.561000	0.74099	CGA		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu	37	14	72171471	72171471	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:72171471C>A	ENST00000555818.1	+	13	4028	c.3680C>A	c.(3679-3681)tCt>tAt	p.S1227Y	SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000537413.1_Intron|SIPA1L1_ENST00000554874.1_Intron|SIPA1L1_ENST00000358550.2_Intron	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1227					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.S1227Y(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATTTCAATTCTTTTGTCCTC	0.393																																					p.S1227Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3680A	14						.						111.0	106.0	108.0					14																	72171471		2203	4300	6503	71241224	SO:0001583	missense	26037	exon13			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3680C>A	14.37:g.72171471C>A	ENSP00000450832:p.Ser1227Tyr		71241224	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292623	0.40594	.	.	ENSG00000197555	ENST00000555818	T	0.54071	0.59	5.73	5.73	0.89815	.	0.230842	0.30134	N	0.010329	T	0.58452	0.2123	N	0.22421	0.69	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.69142	0.962;0.962	T	0.56438	-0.7979	10	0.38643	T	0.18	-13.2603	15.402	0.74849	0.0:1.0:0.0:0.0	.	1227;1227	A6H8W6;O43166	.;SI1L1_HUMAN	Y	1227	ENSP00000450832:S1227Y	ENSP00000351352:S1227Y	S	+	2	0	SIPA1L1	71241224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.676000	0.37565	2.706000	0.92434	0.563000	0.77884	TCT		0.393	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
DPF3	8110	broad.mit.edu	37	14	73190389	73190389	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73190389C>A	ENST00000556509.1	-	5	476	c.477G>T	c.(475-477)gaG>gaT	p.E159D	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Missense_Mutation_p.E159D|DPF3_ENST00000546183.1_Missense_Mutation_p.E169D	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	159					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.E158D(1)|p.E159D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCCAAATCCTCTTCTTCAT	0.423																																					p.E159D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G477T	14						.						252.0	251.0	252.0					14																	73190389		1870	4113	5983	72260142	SO:0001583	missense	8110	exon5			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.477G>T	14.37:g.73190389C>A	ENSP00000450518:p.Glu159Asp		72260142	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37		.	.	.	.	.	.	.	.	.	.	C	12.10	1.835534	0.32421	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90732	-2.72;-0.24;-0.19	5.07	-0.57	0.11753	.	.	.	.	.	T	0.79464	0.4450	N	0.12182	0.205	0.48830	D	0.999712	B;B;B	0.19706	0.038;0.013;0.0	B;B;B	0.24155	0.051;0.021;0.001	T	0.65257	-0.6212	9	0.52906	T	0.07	.	7.1914	0.25828	0.1098:0.383:0.0:0.5072	.	169;159;159	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	D	159;159;158;159;169	ENSP00000450518:E159D;ENSP00000441640:E159D;ENSP00000444662:E169D	ENSP00000381791:E214D	E	-	3	2	DPF3	72260142	0.355000	0.24921	0.997000	0.53966	0.984000	0.73092	-0.577000	0.05847	-0.141000	0.11374	-0.367000	0.07326	GAG		0.423	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
RBM25	58517	broad.mit.edu	37	14	73576125	73576125	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73576125G>T	ENST00000261973.7	+	14	1902	c.1617G>T	c.(1615-1617)gaG>gaT	p.E539D	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.E539D	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	539	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E539D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGAAGAGAGAGAAGGAGGAGC	0.478																																					p.E539D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1617T	14						.						108.0	109.0	109.0					14																	73576125		2203	4300	6503	72645878	SO:0001583	missense	58517	exon14			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1617G>T	14.37:g.73576125G>T	ENSP00000261973:p.Glu539Asp		72645878	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294335	0.81025	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.26810	1.71;1.71	5.97	-2.01	0.07410	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.81341	2.54	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.46596	-0.9180	10	0.46703	T	0.11	.	12.1545	0.54068	0.6671:0.0:0.3329:0.0	.	539	P49756	RBM25_HUMAN	D	539	ENSP00000261973:E539D;ENSP00000431150:E539D	ENSP00000261973:E539D	E	+	3	2	RBM25	72645878	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.162000	0.31786	-0.252000	0.09528	0.655000	0.94253	GAG		0.478	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
RBM25	58517	broad.mit.edu	37	14	73578279	73578279	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73578279G>T	ENST00000261973.7	+	16	2346	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.K687N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	687					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K687N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGAAGAGAAAGAAACTACCTG	0.378																																					p.K687N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2061T	14						.						100.0	99.0	100.0					14																	73578279		2203	4300	6503	72648032	SO:0001583	missense	58517	exon16			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2061G>T	14.37:g.73578279G>T	ENSP00000261973:p.Lys687Asn		72648032	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980537	0.34942	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.14640	2.49;2.49	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	M	0.76574	2.34	0.80722	D	1	P	0.35551	0.509	B	0.38194	0.267	T	0.01648	-1.1304	10	0.39692	T	0.17	.	15.3891	0.74729	0.0663:0.0:0.9337:0.0	.	687	P49756	RBM25_HUMAN	N	687	ENSP00000261973:K687N;ENSP00000431150:K687N	ENSP00000261973:K687N	K	+	3	2	RBM25	72648032	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.627000	0.67784	1.595000	0.50050	-0.229000	0.12294	AAG		0.378	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
PAPLN	89932	broad.mit.edu	37	14	73739302	73739302	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73739302A>G	ENST00000554301.1	+	26	3930	c.3767A>G	c.(3766-3768)gAg>gGg	p.E1256G	RP4-647C14.3_ENST00000556578.1_RNA|PAPLN_ENST00000381166.3_3'UTR|PAPLN_ENST00000427855.1_Missense_Mutation_p.E1256G|PAPLN_ENST00000340738.5_Missense_Mutation_p.E1229G|PAPLN_ENST00000555445.1_Missense_Mutation_p.E1240G			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1256	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.E1229G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGTGGCAATGAGTATTACTCC	0.602																																					p.E1229G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3686G	14						.						122.0	116.0	118.0					14																	73739302		2203	4300	6503	72809055	SO:0001583	missense	89932	exon26			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3767A>G	14.37:g.73739302A>G	ENSP00000451803:p.Glu1256Gly		72809055	NM_173462	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	A	20.6	4.020093	0.75275	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.54	5.54	0.83059	PLAC (2);	.	.	.	.	T	0.52175	0.1718	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.99;0.99	D;D;P;P	0.74348	0.971;0.983;0.881;0.894	T	0.56147	-0.8027	9	0.72032	D	0.01	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	1240;1256;455;1229	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	G	1229;1256;1256;1240	ENSP00000345395:E1229G;ENSP00000403403:E1256G;ENSP00000451803:E1256G;ENSP00000451729:E1240G	ENSP00000345395:E1229G	E	+	2	0	PAPLN	72809055	0.997000	0.39634	1.000000	0.80357	0.944000	0.59088	3.288000	0.51739	2.326000	0.78906	0.533000	0.62120	GAG		0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
HEATR4	399671	broad.mit.edu	37	14	73989186	73989186	+	Missense_Mutation	SNP	C	C	T	rs528517201		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73989186C>T	ENST00000553558.1	-	3	992	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.R177Q|HEATR4_ENST00000334988.2_Missense_Mutation_p.R224Q	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	224								p.R177Q(2)|p.R224Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCCAGGCCTTCGAGGACGCTT	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19291	0.0		0.0	False		,,,				2504	0.0				p.R177Q												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G530A	14						.						55.0	54.0	54.0					14																	73989186		2203	4300	6503	73058939	SO:0001583	missense	399671	exon2			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.671G>A	14.37:g.73989186C>T	ENSP00000450444:p.Arg224Gln		73058939	NM_203309	B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	2.765	-0.256955	0.05829	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T;T	0.42131	1.04;0.98	6.07	-12.1	0.00011	.	2.189300	0.01819	N	0.033951	T	0.16938	0.0407	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	10	0.22109	T	0.4	0.6839	1.9581	0.03380	0.1368:0.2695:0.3223:0.2715	.	224	Q86WZ0	HEAT4_HUMAN	Q	224;177	ENSP00000450444:R224Q;ENSP00000335447:R177Q	ENSP00000335447:R177Q	R	-	2	0	HEATR4	73058939	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.586000	0.00902	-2.152000	0.00794	-3.449000	0.00036	CGA		0.612	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
HEATR4	399671	broad.mit.edu	37	14	73989677	73989677	+	Missense_Mutation	SNP	C	C	A	rs185514885	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:73989677C>A	ENST00000553558.1	-	3	501	c.180G>T	c.(178-180)aaG>aaT	p.K60N	RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.K13N|HEATR4_ENST00000334988.2_Missense_Mutation_p.K60N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	60								p.K13N(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AATATTGGCTCTTGCGGTGTA	0.488																																					p.K13N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G39T	14						.						84.0	88.0	86.0					14																	73989677		2203	4300	6503	73059430	SO:0001583	missense	399671	exon2			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.180G>T	14.37:g.73989677C>A	ENSP00000450444:p.Lys60Asn		73059430	NM_203309	B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211876	0.58452	.	.	ENSG00000187105	ENST00000553558;ENST00000334988;ENST00000556455	T;T	0.16196	2.36;2.36	5.6	1.69	0.24217	.	0.412950	0.21177	N	0.078900	T	0.20333	0.0489	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.55055	0.767	T	0.04900	-1.0919	10	0.72032	D	0.01	-8.278	8.3772	0.32451	0.0:0.6722:0.0:0.3278	.	60	Q86WZ0	HEAT4_HUMAN	N	60;13;60	ENSP00000450444:K60N;ENSP00000452407:K60N	ENSP00000335447:K13N	K	-	3	2	HEATR4	73059430	0.023000	0.18921	0.298000	0.25002	0.018000	0.09664	1.094000	0.30951	0.311000	0.23014	-0.253000	0.11424	AAG		0.488	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
ACOT6	641372	broad.mit.edu	37	14	74086323	74086323	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74086323G>T	ENST00000381139.1	+	2	735	c.404G>T	c.(403-405)aGa>aTa	p.R135I	RP3-414A15.10_ENST00000555500.1_RNA|RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	135						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)	p.R135I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGGAAAGAAAGACCCCAGATA	0.448																																					p.R135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404T	14						.						72.0	65.0	67.0					14																	74086323		2203	4300	6503	73156076	SO:0001583	missense	641372	exon2			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.404G>T	14.37:g.74086323G>T	ENSP00000370531:p.Arg135Ile		73156076	NM_001037162		Missense_Mutation	SNP	ENST00000381139.1	37	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719331	0.68844	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.44482	1.51;0.92	5.8	-1.09	0.09904	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.587166	0.17913	N	0.157771	T	0.44265	0.1285	L	0.54323	1.7	0.45979	D	0.998797	B	0.31705	0.336	B	0.43889	0.435	T	0.48822	-0.9001	10	0.72032	D	0.01	-19.8465	10.2956	0.43623	0.7587:0.0:0.2413:0.0	.	135	Q3I5F7	ACOT6_HUMAN	I	135	ENSP00000451464:R135I;ENSP00000370531:R135I	ENSP00000370531:R135I	R	+	2	0	ACOT6	73156076	0.691000	0.27709	0.955000	0.39395	0.962000	0.63368	0.830000	0.27462	-0.091000	0.12440	0.561000	0.74099	AGA		0.448	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162	
PTGR2	145482	broad.mit.edu	37	14	74340905	74340905	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74340905T>C	ENST00000555661.1	+	4	481	c.336T>C	c.(334-336)aaT>aaC	p.N112N	PTGR2_ENST00000267568.4_Silent_p.N112N|PTGR2_ENST00000553813.1_Intron|PTGR2_ENST00000555228.1_Silent_p.N112N|RP5-1021I20.4_ENST00000556551.2_Silent_p.N112N			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	112					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.N112N(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	TGGATGGAAATAGCCTTGAAA	0.338																																					p.N112N	Esophageal Squamous(98;1155 1417 16452 47043 47872)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T336C	14						.						74.0	76.0	75.0					14																	74340905		2203	4300	6503	73410658	SO:0001819	synonymous_variant	145482	exon4			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.336T>C	14.37:g.74340905T>C			73410658	NM_001146154	Q3L8A4|Q6MZH8	Silent	SNP	ENST00000555661.1	37	CCDS9820.1																																																																																				0.338	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1		
PTGR2	145482	broad.mit.edu	37	14	74346002	74346002	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74346002A>G	ENST00000555661.1	+	6	868	c.723A>G	c.(721-723)atA>atG	p.I241M	PTGR2_ENST00000267568.4_Missense_Mutation_p.I241M|PTGR2_ENST00000553813.1_Missense_Mutation_p.I107M|PTGR2_ENST00000555228.1_Missense_Mutation_p.I241M|RP5-1021I20.4_ENST00000556551.2_Intron			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	241					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.I241M(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	ATACAGTGATAAGTCAGGTTG	0.328																																					p.I241M	Esophageal Squamous(98;1155 1417 16452 47043 47872)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A723G	14						.						142.0	134.0	137.0					14																	74346002		2203	4300	6503	73415755	SO:0001583	missense	145482	exon6			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.723A>G	14.37:g.74346002A>G	ENSP00000452280:p.Ile241Met		73415755	NM_001146154	Q3L8A4|Q6MZH8	Missense_Mutation	SNP	ENST00000555661.1	37	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739042	0.49045	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	5.52	1.65	0.23941	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.040723	0.85682	D	0.000000	T	0.13543	0.0328	L	0.61036	1.89	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.01520	-1.1334	10	0.35671	T	0.21	-21.6402	9.0753	0.36517	0.4129:0.4695:0.0:0.1176	.	241	Q8N8N7	PTGR2_HUMAN	M	241;241;241;192;107	ENSP00000450975:I241M;ENSP00000452280:I241M;ENSP00000267568:I241M;ENSP00000451158:I192M;ENSP00000450824:I107M	ENSP00000267568:I241M	I	+	3	3	RP5-1021I20.4;PTGR2	73415755	0.333000	0.24731	1.000000	0.80357	0.997000	0.91878	0.089000	0.15002	0.377000	0.24735	0.533000	0.62120	ATA		0.328	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1		
FAM161B	145483	broad.mit.edu	37	14	74409398	74409398	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74409398T>G	ENST00000534936.1	-	4	1051	c.946A>C	c.(946-948)Att>Ctt	p.I316L	FAM161B_ENST00000286544.3_Missense_Mutation_p.I379L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	316								p.I316L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGGATGCGAATTTTCCTGAAG	0.532																																					p.I316L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A946C	14						.						57.0	62.0	60.0					14																	74409398		2203	4300	6503	73479151	SO:0001583	missense	145483	exon4			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.946A>C	14.37:g.74409398T>G	ENSP00000445326:p.Ile316Leu		73479151	NM_152445	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	T	14.94	2.684668	0.47991	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.22743	1.94;1.94	5.5	3.07	0.35406	.	0.290198	0.29376	N	0.012325	T	0.19327	0.0464	L	0.45137	1.4	0.36560	D	0.872391	B	0.25809	0.135	B	0.30251	0.113	T	0.13361	-1.0512	10	0.23891	T	0.37	-3.2196	13.3801	0.60762	0.0:0.0:0.2581:0.7419	.	316	Q96MY7	F161B_HUMAN	L	379;316	ENSP00000286544:I379L;ENSP00000445326:I316L	ENSP00000286544:I379L	I	-	1	0	FAM161B	73479151	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.085000	0.50151	1.071000	0.40834	0.533000	0.62120	ATT		0.532	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445	
COQ6	51004	broad.mit.edu	37	14	74420205	74420205	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74420205G>T	ENST00000334571.2	+	2	271	c.231G>T	c.(229-231)gaG>gaT	p.E77D	COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.E52D|COQ6_ENST00000238709.4_Missense_Mutation_p.R22I|COQ6_ENST00000554920.1_Missense_Mutation_p.E77D	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	77					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)	p.E77D(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		AAGTACTGGAGAAATTGTCAG	0.393																																					p.E77D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	14						.						100.0	96.0	97.0					14																	74420205		2203	4300	6503	73489958	SO:0001583	missense	51004	exon2			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.231G>T	14.37:g.74420205G>T	ENSP00000333946:p.Glu77Asp		73489958	NM_182476	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.902410|1.902410	0.33628|0.33628	.|.	.|.	ENSG00000119723|ENSG00000119723	ENST00000394026;ENST00000334571;ENST00000556300;ENST00000554920;ENST00000545052|ENST00000555376;ENST00000238709;ENST00000553462;ENST00000554153;ENST00000557584;ENST00000553922;ENST00000554193;ENST00000554905;ENST00000557205;ENST00000554320;ENST00000555392	T;T|T;T	0.44482|0.61627	0.92;0.95|0.78;0.09	5.37|5.37	4.46|4.46	0.54185|0.54185	.|.	0.255193|.	0.42821|.	N|.	0.000660|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.11201|0.11201	0.11|0.11	0.30884|0.30884	N|N	0.731123|0.731123	B;B;B|B;B;B;B	0.02656|0.17852	0.0;0.0;0.0|0.024;0.023;0.001;0.001	B;B;B|B;B;B;B	0.08055|0.21151	0.003;0.0;0.001|0.022;0.033;0.003;0.001	T|T	0.41770|0.41770	-0.9490|-0.9490	10|9	0.09843|0.87932	T|D	0.71|0	-0.0166|-0.0166	8.4559|8.4559	0.32899|0.32899	0.0:0.2534:0.4877:0.259|0.0:0.2534:0.4877:0.259	.|.	77;52;77|42;42;22;22	B7Z357;B7Z3K8;Q9Y2Z9|B7Z8E9;B7Z262;G3XA86;Q86U30	.;.;COQ6_HUMAN|.;.;.;.	D|I	52;77;77;77;77|22;22;22;42;42;22;42;42;42;22;22	ENSP00000377594:E52D;ENSP00000333946:E77D|ENSP00000238709:R22I;ENSP00000451123:R22I	ENSP00000333946:E77D|ENSP00000238709:R22I	E|R	+|+	3|2	2|0	COQ6|COQ6	73489958|73489958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	0.971000|0.971000	0.29396|0.29396	1.485000|1.485000	0.48380|0.48380	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.393	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1		
CCDC176	80127	broad.mit.edu	37	14	74500791	74500791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74500791G>T	ENST00000394009.3	+	4	535	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	138					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E138*(1)									AAAAGCCAAAGAAATTGGCAT	0.363																																					p.E138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G412T	14						.						90.0	81.0	84.0					14																	74500791		1568	3582	5150	73570544	SO:0001587	stop_gained	80127	exon4			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.412G>T	14.37:g.74500791G>T	ENSP00000377577:p.Glu138*		73570544	NM_025057	Q0P604|Q9H5P8	5'UTR	SNP	ENST00000394009.3	37	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	G	37	5.999079	0.97189	.	.	ENSG00000119636	ENST00000394009	.	.	.	5.15	5.15	0.70609	.	0.264194	0.32204	U	0.006429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.2066	16.7662	0.85524	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000377577:E138X	E	+	1	0	C14orf45	73570544	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.642000	0.67888	2.565000	0.86533	0.467000	0.42956	GAA		0.363	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057	
CCDC176	80127	broad.mit.edu	37	14	74516684	74516684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74516684G>T	ENST00000394009.3	+	8	1195	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*	CCDC176_ENST00000553773.1_Nonsense_Mutation_p.E83*|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	358					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E57*(1)|p.E358*(1)									TGAGAGAACAGAAGTGGAAAG	0.418																																					p.E358X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1072T	14						.						117.0	110.0	113.0					14																	74516684		2203	4300	6503	73586437	SO:0001587	stop_gained	80127	exon8			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1072G>T	14.37:g.74516684G>T	ENSP00000377577:p.Glu358*		73586437	NM_025057	Q0P604|Q9H5P8	Nonsense_Mutation	SNP	ENST00000394009.3	37	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	G	42	9.291873	0.99127	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	.	.	.	5.66	5.66	0.87406	.	0.090906	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.7701	19.7951	0.96477	0.0:0.0:1.0:0.0	.	.	.	.	X	358;83	.	ENSP00000377577:E358X	E	+	1	0	C14orf45	73586437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.948000	0.93006	2.688000	0.91661	0.549000	0.68633	GAA		0.418	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057	
ALDH6A1	4329	broad.mit.edu	37	14	74534217	74534217	+	Missense_Mutation	SNP	T	T	C	rs376852895		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:74534217T>C	ENST00000553458.1	-	8	1006	c.908A>G	c.(907-909)aAc>aGc	p.N303S	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.N20S|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.N290S|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	303					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.N303S(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		AACCAGCTGGTTCAGGGTATT	0.507																																					p.N303S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A908G	14						.	T	SER/ASN	0,4406		0,0,2203	72.0	71.0	72.0		908	5.4	1.0	14		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDH6A1	NM_005589.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	303/536	74534217	1,13005	2203	4300	6503	73603970	SO:0001583	missense	4329	exon8			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.908A>G	14.37:g.74534217T>C	ENSP00000450436:p.Asn303Ser		73603970	NM_005589	B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518791	0.85495	0.0	1.16E-4	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	T;T;T	0.75260	-0.92;-0.92;-0.92	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.081136	0.85682	D	0.000000	T	0.77758	0.4178	M	0.78801	2.425	0.80722	D	1	P;P	0.37398	0.593;0.593	B;B	0.40702	0.338;0.338	T	0.78378	-0.2227	10	0.40728	T	0.16	.	15.6048	0.76658	0.0:0.0:0.0:1.0	.	290;303	B4DFS8;Q02252	.;MMSA_HUMAN	S	303;290;20	ENSP00000450436:N303S;ENSP00000342564:N290S;ENSP00000452081:N20S	ENSP00000342564:N303S	N	-	2	0	ALDH6A1	73603970	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.855000	0.86950	2.270000	0.75569	0.482000	0.46254	AAC		0.507	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1		
AREL1	9870	broad.mit.edu	37	14	75142629	75142629	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75142629C>T	ENST00000356357.4	-	8	1368	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	285					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E285K(1)									ACATTGCGTTCGACGATATTC	0.413																																					p.E285K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853A	14						.						126.0	125.0	126.0					14																	75142629		1966	4153	6119	74212382	SO:0001583	missense	9870	exon8			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.853G>A	14.37:g.75142629C>T	ENSP00000348714:p.Glu285Lys		74212382	NM_001039479	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996480	0.93167	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.49139	0.79;0.79	5.87	5.87	0.94306	.	0.043569	0.85682	D	0.000000	T	0.46619	0.1402	L	0.40543	1.245	0.80722	D	1	D;B	0.64830	0.994;0.222	P;B	0.45037	0.467;0.019	T	0.26643	-1.0097	10	0.30078	T	0.28	.	20.2147	0.98293	0.0:1.0:0.0:0.0	.	285;285	O15033-2;O15033	.;K0317_HUMAN	K	285;124;124	ENSP00000348714:E285K;ENSP00000452101:E124K	ENSP00000348714:E285K	E	-	1	0	KIAA0317	74212382	1.000000	0.71417	0.971000	0.41717	0.985000	0.73830	7.590000	0.82653	2.785000	0.95823	0.591000	0.81541	GAA		0.413	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	
FCF1	51077	broad.mit.edu	37	14	75199495	75199495	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75199495G>T	ENST00000341162.4	+	6	481	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	FCF1_ENST00000534938.2_Missense_Mutation_p.D131Y|FCF1_ENST00000553615.1_Missense_Mutation_p.D128Y	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	143	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D143Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CTATGCAGATGACTGCTTAGT	0.343																																					p.D143Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427T	14						.						104.0	98.0	100.0					14																	75199495		2203	4300	6503	74269248	SO:0001583	missense	51077	exon6			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.427G>T	14.37:g.75199495G>T	ENSP00000344393:p.Asp143Tyr		74269248	NM_015962	Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824814	0.90955	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	4.77	4.77	0.60923	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	D	0.90820	0.7117	H	0.98802	4.335	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.79784	0.955;0.993	D	0.94476	0.7689	9	0.87932	D	0	.	17.9481	0.89045	0.0:0.0:1.0:0.0	.	143;128	Q9Y324;G3V5S9	FCF1_HUMAN;.	Y	54;143;131;128	.	ENSP00000344393:D143Y	D	+	1	0	FCF1	74269248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.039000	0.93777	2.627000	0.88993	0.655000	0.94253	GAC		0.343	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962	
YLPM1	56252	broad.mit.edu	37	14	75247239	75247239	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75247239G>A	ENST00000552421.1	+	3	1366	c.1242G>A	c.(1240-1242)caG>caA	p.Q414Q	YLPM1_ENST00000238571.3_Silent_p.Q414Q|YLPM1_ENST00000325680.7_Silent_p.Q414Q			P49750	YLPM1_HUMAN	YLP motif containing 1	414	Gln-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q414Q(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTTACAGCAGATTCTACAAC	0.493																																					p.Q414Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1242A	14						.						173.0	167.0	169.0					14																	75247239		2006	4184	6190	74316992	SO:0001819	synonymous_variant	56252	exon3			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1242G>A	14.37:g.75247239G>A			74316992	NM_019589	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37																																																																																					0.493	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
YLPM1	56252	broad.mit.edu	37	14	75266069	75266069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75266069C>T	ENST00000325680.7	+	5	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1162					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R1357*(1)|p.R1162*(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGAAATCGAGAGCATGG	0.473																																					p.R1357X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4069T	14						.						170.0	160.0	163.0					14																	75266069		1882	4122	6004	74335822	SO:0001587	stop_gained	56252	exon5			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4069C>T	14.37:g.75266069C>T	ENSP00000324463:p.Arg1357*		74335822	NM_019589	P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000325680.7	37	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	37	6.382028	0.97520	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.01	0.66863	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5401	13.708	0.62651	0.2119:0.7881:0.0:0.0	.	.	.	.	X	1357;1162;1070	.	ENSP00000238571:R1162X	R	+	1	2	YLPM1	74335822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.855000	0.98099	0.537000	0.68136	CGA		0.473	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589	
PROX2	283571	broad.mit.edu	37	14	75329892	75329892	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75329892G>T	ENST00000445876.1	-	1	645	c.646C>A	c.(646-648)Cct>Act	p.P216T	PROX2_ENST00000556084.2_Missense_Mutation_p.P216T|PROX2_ENST00000556489.2_Missense_Mutation_p.P216T			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	216					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P216T(1)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCTCCAGAAGGAAGGAAACTG	0.547																																					p.P216T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C646A	14						.						62.0	60.0	61.0					14																	75329892		1937	4137	6074	74399645	SO:0001583	missense	283571	exon1				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.646C>A	14.37:g.75329892G>T	ENSP00000405932:p.Pro216Thr		74399645	NM_001080408	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	ENST00000445876.1	37	CCDS45136.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.286440|2.286440	0.40494|0.40494	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.43294	.|0.95;0.95	5.81|5.81	2.71|2.71	0.32032|0.32032	.|.	.|0.418555	.|0.24516	.|N	.|0.037849	T|T	0.30198|0.30198	0.0757|0.0757	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P	.|0.37122	.|0.583;0.583	.|B;B	.|0.38428	.|0.273;0.273	T|T	0.10086|0.10086	-1.0645|-1.0645	5|10	.|0.28530	.|T	.|0.3	-0.4587|-0.4587	9.2899|9.2899	0.37780|0.37780	0.1345:0.0:0.6907:0.1748|0.1345:0.0:0.6907:0.1748	.|.	.|216;216	.|G3V3G0;Q3B8N5-2	.|.;.	L|T	215|216	.|ENSP00000451223:P216T;ENSP00000405932:P216T	.|ENSP00000374315:P216T	F|P	-|-	3|1	2|0	PROX2|PROX2	74399645|74399645	0.010000|0.010000	0.17322|0.17322	0.009000|0.009000	0.14445|0.14445	0.082000|0.082000	0.17680|0.17680	0.728000|0.728000	0.26013|0.26013	0.819000|0.819000	0.34492|0.34492	-0.266000|-0.266000	0.10368|0.10368	TTC|CCT		0.547	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
DLST	1743	broad.mit.edu	37	14	75355979	75355979	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75355979G>T	ENST00000334220.4	+	5	262	c.201G>T	c.(199-201)aaG>aaT	p.K67N	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_5'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	67					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.K67N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTCCTAGAGGATGACTTGG	0.323																																					p.K67N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G201T	14						.						70.0	74.0	73.0					14																	75355979		2203	4300	6503	74425732	SO:0001630	splice_region_variant	1743	exon5				CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.200-1G>T	14.37:g.75355979G>T			74425732	NM_001933	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281925	0.59867	.	.	ENSG00000119689	ENST00000334220;ENST00000554806	T;T	0.16073	2.37;2.91	5.56	5.56	0.83823	Single hybrid motif (1);	0.242944	0.46758	D	0.000261	T	0.14960	0.0361	N	0.19112	0.55	0.80722	D	1	P;B;P	0.50272	0.933;0.258;0.799	B;B;B	0.42692	0.395;0.093;0.202	T	0.03534	-1.1027	10	0.29301	T	0.29	.	19.5174	0.95170	0.0:0.0:1.0:0.0	.	67;67;67	Q6IBS5;B7Z6J1;P36957	.;.;ODO2_HUMAN	N	67;50	ENSP00000335304:K67N;ENSP00000451957:K50N	ENSP00000238671:K50N	K	+	3	2	DLST	74425732	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.617000	0.54181	2.612000	0.88384	0.563000	0.77884	AAG		0.323	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1		Missense_Mutation
PGF	5228	broad.mit.edu	37	14	75416114	75416114	+	Silent	SNP	G	G	A	rs201159181		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75416114G>A	ENST00000405431.2	-	3	260	c.261C>T	c.(259-261)tgC>tgT	p.C87C	PGF_ENST00000555567.1_Silent_p.C87C|PGF_ENST00000238607.6_Silent_p.C86C|PGF_ENST00000553716.1_Silent_p.C87C			P49763	PLGF_HUMAN	placental growth factor	87					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.C87C(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	TCTCATCGCCGCAGCAGCCGG	0.637																																					p.C87C	GBM(127;389 2301 5452 48547)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261T	14						.	G	,	2,4404	4.2+/-10.8	0,2,2201	66.0	56.0	59.0		261,261	-2.2	0.1	14		59	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PGF	NM_001207012.1,NM_002632.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	87/150,87/171	75416114	2,13004	2203	4300	6503	74485867	SO:0001819	synonymous_variant	5228	exon3			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.261C>T	14.37:g.75416114G>A			74485867	NM_002632	Q07101|Q9BV78|Q9Y6S8	Silent	SNP	ENST00000405431.2	37	CCDS9835.1																																																																																				0.637	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632	
MLH3	27030	broad.mit.edu	37	14	75497284	75497284	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75497284G>A	ENST00000556740.1	-	8	3984	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W	MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.R1139W|MLH3_ENST00000355774.2_Missense_Mutation_p.R1317W|MLH3_ENST00000238662.7_Missense_Mutation_p.R1293W|MLH3_ENST00000380968.2_Missense_Mutation_p.R263W			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1317					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.R1293W(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTTCCTCTCCGAAGTTCATTG	0.423								Mismatch excision repair (MMR)																													p.R1317W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3949T	14						.						254.0	215.0	228.0					14																	75497284		2203	4300	6503	74567037	SO:0001583	missense	27030	exon9			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3949C>T	14.37:g.75497284G>A	ENSP00000452316:p.Arg1317Trp		74567037	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063474	0.76187	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740	D;T;D;D;D	0.82619	-1.63;0.5;-1.5;-1.6;-1.63	5.78	4.88	0.63580	MutL, C-terminal, dimerisation (2);	0.137025	0.49916	D	0.000130	D	0.91412	0.7290	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92694	0.6169	10	0.87932	D	0	-9.6696	16.8517	0.85996	0.0:0.1285:0.8715:0.0	.	1293;1317	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	W	1317;263;1293;1139;1317	ENSP00000348020:R1317W;ENSP00000370355:R263W;ENSP00000238662:R1293W;ENSP00000451540:R1139W;ENSP00000452316:R1317W	ENSP00000238662:R1293W	R	-	1	2	MLH3	74567037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.009000	0.63998	1.419000	0.47118	0.563000	0.77884	CGG		0.423	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
MLH3	27030	broad.mit.edu	37	14	75513090	75513090	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75513090A>G	ENST00000556740.1	-	1	3304	c.3269T>C	c.(3268-3270)gTa>gCa	p.V1090A	MLH3_ENST00000544985.1_Missense_Mutation_p.V85A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1090A|MLH3_ENST00000238662.7_Missense_Mutation_p.V1090A|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.V1090A|MLH3_ENST00000380968.2_Missense_Mutation_p.V36A			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1090					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.V1090A(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ATTCTCAAGTACAACATCCAC	0.418								Mismatch excision repair (MMR)																													p.V1090A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3269C	14						.						114.0	97.0	103.0					14																	75513090		2203	4300	6503	74582843	SO:0001583	missense	27030	exon2			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3269T>C	14.37:g.75513090A>G	ENSP00000452316:p.Val1090Ala		74582843	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.70|12.70	2.016050|2.016050	0.35606|0.35606	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	D;T;D;T;D;T|.	0.83591|.	-1.67;0.48;-1.74;-1.49;-1.67;0.25|.	5.49|5.49	4.32|4.32	0.51571|0.51571	.|.	0.648960|.	0.15610|.	N|.	0.253444|.	T|T	0.39835|0.39835	0.1093|0.1093	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	P;B|.	0.39282|.	0.666;0.393|.	B;B|.	0.33620|.	0.167;0.08|.	T|T	0.21793|0.21793	-1.0235|-1.0235	10|5	0.66056|.	D|.	0.02|.	0.0137|0.0137	12.5822|12.5822	0.56397|0.56397	0.8613:0.1387:0.0:0.0|0.8613:0.1387:0.0:0.0	.|.	1090;1090|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	A|H	1090;36;1090;1090;1090;85|147	ENSP00000348020:V1090A;ENSP00000370355:V36A;ENSP00000238662:V1090A;ENSP00000451540:V1090A;ENSP00000452316:V1090A;ENSP00000441371:V85A|.	ENSP00000238662:V1090A|.	V|Y	-|-	2|1	0|0	MLH3|MLH3	74582843|74582843	0.520000|0.520000	0.26250|0.26250	0.001000|0.001000	0.08648|0.08648	0.683000|0.683000	0.39861|0.39861	5.485000|5.485000	0.66850|0.66850	1.049000|1.049000	0.40321|0.40321	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.418	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
MLH3	27030	broad.mit.edu	37	14	75514048	75514048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75514048C>A	ENST00000556740.1	-	1	2346	c.2311G>T	c.(2311-2313)Gaa>Taa	p.E771*	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Nonsense_Mutation_p.E771*|MLH3_ENST00000238662.7_Nonsense_Mutation_p.E771*|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Nonsense_Mutation_p.E771*|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	771					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.E771*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TCCTCTACTTCTGTATCCAGA	0.418								Mismatch excision repair (MMR)																													p.E771X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2311T	14						.						137.0	142.0	140.0					14																	75514048		2203	4300	6503	74583801	SO:0001587	stop_gained	27030	exon2			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2311G>T	14.37:g.75514048C>A	ENSP00000452316:p.Glu771*		74583801	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Nonsense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606042	0.87157	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	.	.	.	5.93	3.1	0.35709	.	0.525534	0.20379	N	0.093485	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-11.5867	7.6737	0.28473	0.0:0.5383:0.3128:0.1489	.	.	.	.	X	771	.	ENSP00000238662:E771X	E	-	1	0	MLH3	74583801	0.111000	0.22076	0.210000	0.23637	0.026000	0.11368	0.441000	0.21611	0.840000	0.34995	-0.165000	0.13383	GAA		0.418	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
TMED10	10972	broad.mit.edu	37	14	75602511	75602511	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75602511C>A	ENST00000303575.4	-	4	541	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	164	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for TMED10 and TMED2 cis-Golgi network localization.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)	p.D164Y(1)		endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TAGGCAAAATCATTAACAATA	0.418																																					p.D164Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490T	14						.						128.0	110.0	116.0					14																	75602511		2203	4300	6503	74672264	SO:0001583	missense	10972	exon4			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.490G>T	14.37:g.75602511C>A	ENSP00000303145:p.Asp164Tyr		74672264	NM_006827	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090320	0.94149	.	.	ENSG00000170348	ENST00000303575	T	0.17213	2.29	5.72	5.72	0.89469	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.39143	-0.9628	10	0.49607	T	0.09	-10.1497	19.8938	0.96942	0.0:1.0:0.0:0.0	.	164	P49755	TMEDA_HUMAN	Y	164	ENSP00000303145:D164Y	ENSP00000303145:D164Y	D	-	1	0	TMED10	74672264	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.442000	0.80503	2.703000	0.92315	0.460000	0.39030	GAT		0.418	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	
TMED10	10972	broad.mit.edu	37	14	75614405	75614405	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75614405C>A	ENST00000303575.4	-	3	424	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	125	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)	p.D125Y(1)		endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCTTCATGTCTAGGATCACG	0.463																																					p.D125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373T	14						.						254.0	227.0	236.0					14																	75614405		2203	4300	6503	74684158	SO:0001583	missense	10972	exon3			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.373G>T	14.37:g.75614405C>A	ENSP00000303145:p.Asp125Tyr		74684158	NM_006827	B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306070	0.60305	.	.	ENSG00000170348	ENST00000303575	T	0.20463	2.07	6.06	6.06	0.98353	GOLD (2);	0.096682	0.64402	D	0.000001	T	0.40839	0.1133	M	0.93638	3.44	0.58432	D	0.999999	B	0.27140	0.169	B	0.35727	0.209	T	0.48103	-0.9064	10	0.87932	D	0	-24.9813	10.8833	0.46951	0.0:0.8613:0.0:0.1387	.	125	P49755	TMEDA_HUMAN	Y	125	ENSP00000303145:D125Y	ENSP00000303145:D125Y	D	-	1	0	TMED10	74684158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.685000	0.61693	2.880000	0.98712	0.650000	0.86243	GAC		0.463	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	
FOS	2353	broad.mit.edu	37	14	75747528	75747528	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75747528G>A	ENST00000303562.4	+	4	753	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FOS_ENST00000535987.1_Missense_Mutation_p.E146K|FOS_ENST00000555347.1_Missense_Mutation_p.E34K|FOS_ENST00000555686.1_Missense_Mutation_p.E68K	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	182	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E182K(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TTTGCAGACCGAGATTGCCAA	0.493																																					p.E182K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G544A	14						.						71.0	76.0	75.0					14																	75747528		2202	4298	6500	74817281	SO:0001583	missense	2353	exon4			K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.544G>A	14.37:g.75747528G>A	ENSP00000306245:p.Glu182Lys		74817281	NM_005252	A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406915	0.83230	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T;T;T	0.80033	0.28;-1.33;0.28;-1.33;0.28	5.38	5.38	0.77491	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.048986	0.85682	D	0.000000	D	0.90783	0.7106	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.91680	0.5357	10	0.87932	D	0	-5.0546	19.1116	0.93318	0.0:0.0:1.0:0.0	.	146;182	B4DQ65;P01100	.;FOS_HUMAN	K	182;146;68;32;34	ENSP00000306245:E182K;ENSP00000442268:E146K;ENSP00000452590:E68K;ENSP00000452440:E32K;ENSP00000450886:E34K	ENSP00000306245:E182K	E	+	1	0	FOS	74817281	1.000000	0.71417	0.963000	0.40424	0.987000	0.75469	9.750000	0.98875	2.677000	0.91161	0.563000	0.77884	GAG		0.493	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252	
BATF	10538	broad.mit.edu	37	14	75991472	75991472	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:75991472C>T	ENST00000286639.6	+	2	367	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C	BATF_ENST00000555504.1_Missense_Mutation_p.R37C|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	37	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R37C(1)		large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GGAGAAAAATCGTATTGCCGC	0.522																																					p.R37C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109T	14						.						88.0	75.0	79.0					14																	75991472		2203	4300	6503	75061225	SO:0001583	missense	10538	exon2			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.109C>T	14.37:g.75991472C>T	ENSP00000286639:p.Arg37Cys		75061225	NM_006399		Missense_Mutation	SNP	ENST00000286639.6	37	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616930	0.87359	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.73258	-0.73	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86011	0.1501	10	0.87932	D	0	-2.7248	14.6782	0.68998	0.1451:0.8549:0.0:0.0	.	37	Q16520	BATF_HUMAN	C	37	ENSP00000286639:R37C	ENSP00000286639:R37C	R	+	1	0	BATF	75061225	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.459000	0.66685	2.709000	0.92574	0.655000	0.94253	CGT		0.522	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399	
FLVCR2	55640	broad.mit.edu	37	14	76088432	76088432	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:76088432C>T	ENST00000238667.4	+	2	1036	c.680C>T	c.(679-681)gCg>gTg	p.A227V	FLVCR2_ENST00000556856.1_5'Flank|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.A22V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	227					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.A227V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGGAATTGCGATTGGGTTC	0.428																																					p.A227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	14						.						318.0	292.0	301.0					14																	76088432		2203	4300	6503	75158185	SO:0001583	missense	55640	exon2			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.680C>T	14.37:g.76088432C>T	ENSP00000238667:p.Ala227Val		75158185	NM_017791	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758687	0.89843	.	.	ENSG00000119686	ENST00000238667;ENST00000539311	T;T	0.58210	0.35;0.35	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81059	0.4744	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.982	D	0.84529	0.0632	10	0.52906	T	0.07	-23.0509	18.9487	0.92632	0.0:1.0:0.0:0.0	.	22;227	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	227;22	ENSP00000238667:A227V;ENSP00000443439:A22V	ENSP00000238667:A227V	A	+	2	0	AC007182.1	75158185	1.000000	0.71417	0.969000	0.41365	0.567000	0.35839	7.045000	0.76585	2.778000	0.95560	0.655000	0.94253	GCG		0.428	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	
GPATCH2L	55668	broad.mit.edu	37	14	76639930	76639930	+	Nonsense_Mutation	SNP	C	C	T	rs377474002		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:76639930C>T	ENST00000261530.7	+	5	1012	c.946C>T	c.(946-948)Cga>Tga	p.R316*	GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.R316*|GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.R316*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.R316*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	316								p.R316*(1)									AGCTGCAGCTCGATGCCTCAG	0.483																																					p.R316X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C946T	14						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	138.0	123.0	128.0		946,946	4.8	1.0	14		128	0,8600		0,0,4300	no	stop-gained,stop-gained	C14orf118	NM_017926.2,NM_017972.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	316/483,316/478	76639930	1,13005	2203	4300	6503	75709683	SO:0001587	stop_gained	55668	exon5			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.946C>T	14.37:g.76639930C>T	ENSP00000261530:p.Arg316*		75709683	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	C	37	6.360632	0.97502	2.27E-4	0.0	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	.	.	.	5.71	4.81	0.61882	.	0.259391	0.31051	N	0.008358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.1686	14.2928	0.66292	0.1486:0.8514:0.0:0.0	.	.	.	.	X	316	.	ENSP00000261530:R316X	R	+	1	2	C14orf118	75709683	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	3.379000	0.52440	1.368000	0.46115	0.655000	0.94253	CGA		0.483	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
GPATCH2L	55668	broad.mit.edu	37	14	76668171	76668171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:76668171G>T	ENST00000261530.7	+	10	1492	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.E471*|GPATCH2L_ENST00000556675.1_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	476								p.E476*(1)									AATGCCACAAGAAAAGAGCCC	0.493																																					p.E476X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1426T	14						.						98.0	103.0	101.0					14																	76668171		2203	4300	6503	75737924	SO:0001587	stop_gained	55668	exon10			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1426G>T	14.37:g.76668171G>T	ENSP00000261530:p.Glu476*		75737924	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	ENST00000261530.7	37	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700599	0.96802	.	.	ENSG00000089916	ENST00000312858;ENST00000261530	.	.	.	5.95	5.95	0.96441	.	0.319150	0.33309	N	0.005047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-36.8585	17.5491	0.87871	0.0:0.0:1.0:0.0	.	.	.	.	X	471;476	.	ENSP00000261530:E476X	E	+	1	0	C14orf118	75737924	1.000000	0.71417	0.951000	0.38953	0.732000	0.41865	5.638000	0.67861	2.824000	0.97209	0.655000	0.94253	GAA		0.493	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
ANGEL1	23357	broad.mit.edu	37	14	77270134	77270134	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77270134C>A	ENST00000251089.2	-	6	1614	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	ANGEL1_ENST00000557179.1_Missense_Mutation_p.R66I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	501								p.R501I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CTCACCTGATCTCTTGGGGTG	0.517																																					p.R501I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1502T	14						.						111.0	113.0	112.0					14																	77270134		2203	4300	6503	76339887	SO:0001583	missense	23357	exon6			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1502G>T	14.37:g.77270134C>A	ENSP00000251089:p.Arg501Ile		76339887	NM_015305	B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284643	0.40394	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.48836	1.86;0.8	5.75	3.78	0.43462	Endonuclease/exonuclease/phosphatase (2);	0.257970	0.40385	N	0.001105	T	0.27594	0.0678	N	0.24115	0.695	0.44462	D	0.997393	B	0.06786	0.001	B	0.13407	0.009	T	0.13388	-1.0511	10	0.35671	T	0.21	0.0037	2.6291	0.04939	0.1921:0.5095:0.1859:0.1125	.	501	Q9UNK9	ANGE1_HUMAN	I	501;66	ENSP00000251089:R501I;ENSP00000451534:R66I	ENSP00000251089:R501I	R	-	2	0	ANGEL1	76339887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.911000	0.28584	1.389000	0.46526	0.655000	0.94253	AGA		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305	
LRRC74A	145497	broad.mit.edu	37	14	77311207	77311207	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77311207C>A	ENST00000393774.3	+	7	814	c.690C>A	c.(688-690)ttC>ttA	p.F230L	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2												p.F230L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACAACCAATTCTCTGATGTAG	0.473																																					p.F230L	Ovarian(165;1056 1958 32571 36789 48728)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C690A	14						.						57.0	56.0	56.0					14																	77311207		2203	4300	6503	76380960	SO:0001583	missense	145497	exon7																														ENST00000393774.3:c.690C>A	14.37:g.77311207C>A	ENSP00000377369:p.Phe230Leu		76380960	NM_194287		Missense_Mutation	SNP	ENST00000393774.3	37	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706386	0.30232	.	.	ENSG00000100565	ENST00000393774	T	0.40756	1.02	5.66	3.6	0.41247	.	0.097237	0.64402	N	0.000001	T	0.27313	0.0670	L	0.33189	0.99	0.80722	D	1	B	0.31485	0.325	B	0.35240	0.198	T	0.03673	-1.1014	10	0.08599	T	0.76	.	6.8553	0.24038	0.0:0.6379:0.0:0.3621	.	230	Q0VAA2	CN16B_HUMAN	L	230	ENSP00000377369:F230L	ENSP00000377369:F230L	F	+	3	2	C14orf166B	76380960	1.000000	0.71417	0.984000	0.44739	0.386000	0.30323	1.157000	0.31724	1.387000	0.46486	0.462000	0.41574	TTC		0.473	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1		
TMEM63C	57156	broad.mit.edu	37	14	77705948	77705948	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77705948G>A	ENST00000298351.4	+	12	953	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	270					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)	p.R270H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTGGCAGGCGCCATGCCATG	0.647																																					p.R270H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	14						.						25.0	28.0	27.0					14																	77705948		1898	4106	6004	76775701	SO:0001583	missense	57156	exon12				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.809G>A	14.37:g.77705948G>A	ENSP00000298351:p.Arg270His		76775701	NM_020431	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309568	0.40895	.	.	ENSG00000165548	ENST00000298351	T	0.42513	0.97	5.17	4.07	0.47477	.	0.052460	0.85682	D	0.000000	T	0.36799	0.0980	L	0.50333	1.59	0.58432	D	0.999997	B	0.30709	0.291	B	0.21917	0.037	T	0.41980	-0.9478	10	0.66056	D	0.02	-25.4703	14.5653	0.68171	0.0835:0.0:0.9165:0.0	.	270	Q9P1W3	TM63C_HUMAN	H	270	ENSP00000298351:R270H	ENSP00000298351:R270H	R	+	2	0	TMEM63C	76775701	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	6.950000	0.75977	2.406000	0.81754	0.462000	0.41574	CGC		0.647	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1		
POMT2	29954	broad.mit.edu	37	14	77751926	77751926	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77751926C>A	ENST00000261534.4	-	13	1584	c.1382G>T	c.(1381-1383)aGg>aTg	p.R461M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	461						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)	p.R461M(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCCAAATTTCCTGTTTACGAC	0.458																																					p.R461M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1382T	14						.						301.0	337.0	325.0					14																	77751926		2203	4300	6503	76821679	SO:0001583	missense	29954	exon13			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1382G>T	14.37:g.77751926C>A	ENSP00000261534:p.Arg461Met		76821679	NM_013382	Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385006	0.95967	.	.	ENSG00000009830	ENST00000261534	D	0.83992	-1.79	5.55	5.55	0.83447	MIR (2);	0.050216	0.85682	D	0.000000	D	0.87939	0.6304	L	0.49778	1.585	0.58432	D	0.999993	D	0.58268	0.982	P	0.59115	0.852	D	0.87593	0.2492	10	0.54805	T	0.06	-14.2534	19.8667	0.96806	0.0:1.0:0.0:0.0	.	461	Q9UKY4	POMT2_HUMAN	M	461	ENSP00000261534:R461M	ENSP00000261534:R461M	R	-	2	0	POMT2	76821679	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.421000	0.80204	2.773000	0.95371	0.655000	0.94253	AGG		0.458	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382	
TMED8	283578	broad.mit.edu	37	14	77808177	77808177	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77808177G>A	ENST00000216468.7	-	6	970	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	305	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F305F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGAGTTGTCGAACTTGAGCA	0.587																																					p.F305F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	14						.						146.0	126.0	133.0					14																	77808177		2203	4300	6503	76877930	SO:0001819	synonymous_variant	283578	exon6			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.915C>T	14.37:g.77808177G>A			76877930	NM_213601	B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	ENST00000216468.7	37	CCDS32125.1																																																																																				0.587	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601	
VIPAS39	63894	broad.mit.edu	37	14	77908963	77908963	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77908963C>A	ENST00000553888.1	-	10	1184	c.674G>T	c.(673-675)aGa>aTa	p.R225I	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R225I|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R225I|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R176I|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R251I|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R212I	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	225					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.R225I(1)									AATAAGATGTCTCAGGGCAAC	0.413																																					p.R225I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674T	14						.						150.0	155.0	153.0					14																	77908963		2203	4300	6503	76978716	SO:0001583	missense	63894	exon11			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.674G>T	14.37:g.77908963C>A	ENSP00000452181:p.Arg225Ile		76978716	NM_022067	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330687	0.60853	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.7	3.74	0.42951	.	0.125424	0.64402	D	0.000014	T	0.42517	0.1206	L	0.47716	1.5	0.80722	D	1	P;P	0.40731	0.655;0.728	B;B	0.40410	0.272;0.328	T	0.39921	-0.9590	10	0.36615	T	0.2	-11.2599	13.8849	0.63702	0.0:0.8462:0.1537:0.0	.	176;225	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	I	225;225;212;225;176;251	ENSP00000339122:R225I;ENSP00000452181:R225I;ENSP00000313098:R212I;ENSP00000452191:R225I;ENSP00000404815:R176I;ENSP00000451857:R251I	ENSP00000313098:R212I	R	-	2	0	VIPAR	76978716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.625000	0.46452	2.146000	0.66826	0.655000	0.94253	AGA		0.413	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	
ISM2	145501	broad.mit.edu	37	14	77948669	77948669	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:77948669G>A	ENST00000342219.4	-	4	1025	c.969C>T	c.(967-969)agC>agT	p.S323S	ISM2_ENST00000412904.1_Silent_p.S242S|ISM2_ENST00000429906.1_Silent_p.S242S|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Silent_p.S235S	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	323						extracellular region (GO:0005576)		p.S323S(1)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACCGTAGCTGACAGAAT	0.597																																					p.S323S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C969T	14						.						85.0	84.0	84.0					14																	77948669		2203	4300	6503	77018422	SO:0001819	synonymous_variant	145501	exon4			AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.969C>T	14.37:g.77948669G>A			77018422	NM_199296	A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	CCDS9864.1																																																																																				0.597	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509	
NRXN3	9369	broad.mit.edu	37	14	79434521	79434521	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:79434521C>T	ENST00000554719.1	+	11	2346	c.1855C>T	c.(1855-1857)Ctc>Ttc	p.L619F	NRXN3_ENST00000335750.5_Missense_Mutation_p.L619F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	223					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.L619F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCCAGGTGATCTCTATATGGC	0.453																																					p.L619F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1855T	14						.						94.0	88.0	90.0					14																	79434521		2203	4300	6503	78504274	SO:0001583	missense	9369	exon11			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1855C>T	14.37:g.79434521C>T	ENSP00000451648:p.Leu619Phe		78504274	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029298	0.93518	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.85258	-1.96;-1.96	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.92799	0.7710	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.91735	0.5399	8	.	.	.	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	992;619	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	F	992;981;619;619	ENSP00000451648:L619F;ENSP00000338349:L619F	.	L	+	1	0	NRXN3	78504274	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.987000	0.70571	2.807000	0.96579	0.591000	0.81541	CTC		0.453	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
DIO2	1734	broad.mit.edu	37	14	80669434	80669434	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:80669434C>T	ENST00000557010.1	-	4	805	c.420G>A	c.(418-420)ctG>ctA	p.L140L	DIO2_ENST00000555750.1_Silent_p.L176L|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Silent_p.L140L|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	140					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.L140L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGAAGGCTGGCAGCTGGCTCG	0.572											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L140L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	14						.						51.0	56.0	54.0					14																	80669434		2081	4228	6309	79739187	SO:0001819	synonymous_variant	1734	exon3			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.420G>A	14.37:g.80669434C>T		1200	79739187	NM_000793	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	CCDS45146.1																																																																																				0.572	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2		
CEP128	145508	broad.mit.edu	37	14	81259399	81259399	+	Missense_Mutation	SNP	C	C	T	rs138323270		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:81259399C>T	ENST00000555265.1	-	14	1640	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	CEP128_ENST00000281129.3_Missense_Mutation_p.R422Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	422						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R422Q(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTCCTTAAGTCGATCCAACAT	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20458	0.0		0.0	False		,,,				2504	0.0				p.R422Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1265A	14						.	C	GLN/ARG	0,4406		0,0,2203	168.0	153.0	158.0		1265	-2.5	0.4	14	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CEP128	NM_152446.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	422/1095	81259399	1,13005	2203	4300	6503	80329152	SO:0001583	missense	145508	exon13			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1265G>A	14.37:g.81259399C>T	ENSP00000451162:p.Arg422Gln		80329152	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	0.076	-1.192068	0.01607	0.0	1.16E-4	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.20738	2.05;2.05	5.51	-2.45	0.06481	.	0.557653	0.16862	N	0.196467	T	0.03305	0.0096	N	0.00210	-1.845	0.80722	D	1	B	0.12013	0.005	B	0.04013	0.001	T	0.49643	-0.8918	10	0.02654	T	1	.	10.6187	0.45467	0.0:0.3323:0.0:0.6677	.	422	Q6ZU80	CE128_HUMAN	Q	422	ENSP00000281129:R422Q;ENSP00000451162:R422Q	ENSP00000281129:R422Q	R	-	2	0	CEP128	80329152	0.999000	0.42202	0.450000	0.26969	0.274000	0.26718	1.436000	0.34980	-0.436000	0.07254	-1.000000	0.02509	CGA		0.453	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
TSHR	7253	broad.mit.edu	37	14	81606200	81606200	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:81606200G>A	ENST00000541158.2	+	10	1192	c.870G>A	c.(868-870)aaG>aaA	p.K290K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.K290K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	290					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.K290K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGAATCAGAAGAAAATCAGAG	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.K290K		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G870A	14						.						49.0	46.0	47.0					14																	81606200		2203	4300	6503	80675953	SO:0001819	synonymous_variant	7253	exon9			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.870G>A	14.37:g.81606200G>A			80675953	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
STON2	85439	broad.mit.edu	37	14	81744852	81744852	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:81744852T>C	ENST00000267540.2	-	4	1003	c.803A>G	c.(802-804)aAt>aGt	p.N268S	STON2_ENST00000555447.1_Missense_Mutation_p.N268S|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	268					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.N268S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCCCATTGAATTATAAGGTAC	0.448																																					p.N268S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803G	14						.						127.0	129.0	128.0					14																	81744852		2203	4300	6503	80814605	SO:0001583	missense	85439	exon4			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.803A>G	14.37:g.81744852T>C	ENSP00000267540:p.Asn268Ser		80814605	NM_033104	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	T	0.648	-0.810478	0.02798	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.53423	0.62;0.62	6.17	5.03	0.67393	Stonin-2, N-terminal (1);	0.478319	0.24267	N	0.040035	T	0.40473	0.1118	L	0.53249	1.67	0.09310	N	1	B;B	0.19583	0.018;0.037	B;B	0.15870	0.014;0.008	T	0.29518	-1.0009	10	0.32370	T	0.25	-11.6603	8.4031	0.32599	0.0:0.2048:0.0:0.7952	.	268;268	Q8WXE9;G3V2T7	STON2_HUMAN;.	S	268;280;268	ENSP00000450857:N268S;ENSP00000267540:N268S	ENSP00000267540:N268S	N	-	2	0	STON2	80814605	0.985000	0.35326	0.019000	0.16419	0.008000	0.06430	1.169000	0.31871	1.161000	0.42604	-0.250000	0.11733	AAT		0.448	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
SEL1L	6400	broad.mit.edu	37	14	81950701	81950701	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:81950701G>T	ENST00000336735.4	-	19	2030	c.1914C>A	c.(1912-1914)ttC>ttA	p.F638L		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	638	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F638L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAACCCATAGAAATGGTAGT	0.373																																					p.F638L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1914A	14						.						122.0	123.0	123.0					14																	81950701		2203	4300	6503	81020454	SO:0001583	missense	6400	exon19				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1914C>A	14.37:g.81950701G>T	ENSP00000337053:p.Phe638Leu		81020454	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186892	0.57909	.	.	ENSG00000071537	ENST00000336735	T	0.51574	0.7	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.042803	0.85682	D	0.000000	T	0.32882	0.0844	N	0.05124	-0.11	0.80722	D	1	P	0.39376	0.67	B	0.42959	0.403	T	0.18085	-1.0348	10	0.28530	T	0.3	.	15.4023	0.74852	0.0681:0.0:0.9319:0.0	.	638	Q9UBV2	SE1L1_HUMAN	L	638	ENSP00000337053:F638L	ENSP00000337053:F638L	F	-	3	2	SEL1L	81020454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.401000	0.59716	2.809000	0.96659	0.557000	0.71058	TTC		0.373	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
SEL1L	6400	broad.mit.edu	37	14	81956802	81956802	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:81956802G>A	ENST00000336735.4	-	13	1378	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	421	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S421L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ACTTCCTTCCGAATACATCTG	0.403																																					p.S421L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1262T	14						.						126.0	108.0	114.0					14																	81956802		2203	4300	6503	81026555	SO:0001583	missense	6400	exon13				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1262C>T	14.37:g.81956802G>A	ENSP00000337053:p.Ser421Leu		81026555	NM_005065	Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466948	0.26335	.	.	ENSG00000071537	ENST00000336735	T	0.46451	0.87	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.22437	0.0541	N	0.03881	-0.34	0.80722	D	1	B	0.23442	0.085	B	0.25140	0.058	T	0.18681	-1.0329	10	0.05351	T	0.99	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	421	Q9UBV2	SE1L1_HUMAN	L	421	ENSP00000337053:S421L	ENSP00000337053:S421L	S	-	2	0	SEL1L	81026555	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	8.899000	0.92544	2.760000	0.94817	0.655000	0.94253	TCG		0.403	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065	
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:86088162G>A	ENST00000330753.4	+	2	1071	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E102K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	102					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.E102K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	14						.						118.0	112.0	114.0					14																	86088162		2203	4300	6503	85157915	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.304G>A	14.37:g.86088162G>A	ENSP00000332879:p.Glu102Lys		85157915	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535874	0.85812	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02525	4.26;4.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.00249	-1.1879	10	0.56958	D	0.05	-14.0584	19.9036	0.96999	0.0:0.0:1.0:0.0	.	102	O43155	FLRT2_HUMAN	K	102	ENSP00000332879:E102K;ENSP00000451050:E102K	ENSP00000332879:E102K	E	+	1	0	FLRT2	85157915	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.867000	0.99620	2.706000	0.92434	0.655000	0.94253	GAA		0.468	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
FLRT2	23768	broad.mit.edu	37	14	86088447	86088447	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:86088447G>A	ENST00000330753.4	+	2	1356	c.589G>A	c.(589-591)Gac>Aac	p.D197N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D197N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	197					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D197N(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTCATATCCGACATGGCCTT	0.512																																					p.D197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	14						.						111.0	112.0	112.0					14																	86088447		2203	4300	6503	85158200	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.589G>A	14.37:g.86088447G>A	ENSP00000332879:p.Asp197Asn		85158200	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135020	0.77662	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02369	4.32;4.32	5.42	5.42	0.78866	.	0.048991	0.85682	D	0.000000	T	0.03783	0.0107	N	0.16567	0.415	0.58432	D	0.999997	D	0.58268	0.982	P	0.47645	0.553	T	0.66089	-0.6010	10	0.19147	T	0.46	-31.5414	19.5873	0.95495	0.0:0.0:1.0:0.0	.	197	O43155	FLRT2_HUMAN	N	197	ENSP00000332879:D197N;ENSP00000451050:D197N	ENSP00000332879:D197N	D	+	1	0	FLRT2	85158200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.696000	0.74598	2.702000	0.92279	0.650000	0.86243	GAC		0.512	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
FLRT2	23768	broad.mit.edu	37	14	86088759	86088759	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:86088759A>G	ENST00000330753.4	+	2	1668	c.901A>G	c.(901-903)Aac>Gac	p.N301D	FLRT2_ENST00000554746.1_Missense_Mutation_p.N301D	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	301					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.N301D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAATCTCTCCAACCTGAAGCA	0.453																																					p.N301D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A901G	14						.						169.0	178.0	175.0					14																	86088759		2203	4300	6503	85158512	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.901A>G	14.37:g.86088759A>G	ENSP00000332879:p.Asn301Asp		85158512	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190086	0.58017	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.58940	0.3;0.3	5.97	5.97	0.96955	.	0.135238	0.64402	D	0.000003	T	0.55529	0.1926	L	0.49350	1.555	0.39545	D	0.968884	B	0.34372	0.451	B	0.34991	0.193	T	0.60188	-0.7312	10	0.59425	D	0.04	-22.735	16.4473	0.83942	1.0:0.0:0.0:0.0	.	301	O43155	FLRT2_HUMAN	D	301	ENSP00000332879:N301D;ENSP00000451050:N301D	ENSP00000332879:N301D	N	+	1	0	FLRT2	85158512	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.330000	0.72925	2.281000	0.76405	0.533000	0.62120	AAC		0.453	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
GPR65	8477	broad.mit.edu	37	14	88477672	88477672	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:88477672G>A	ENST00000267549.3	+	2	1039	c.481G>A	c.(481-483)Gat>Aat	p.D161N	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	161					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D161N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TGAATATTGCGATGCCGAAAA	0.393																																					p.D161N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481A	14						.						148.0	141.0	144.0					14																	88477672		2203	4300	6503	87547425	SO:0001583	missense	8477	exon2			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.481G>A	14.37:g.88477672G>A	ENSP00000267549:p.Asp161Asn		87547425	NM_003608	O75819	Missense_Mutation	SNP	ENST00000267549.3	37	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	2.069	-0.413614	0.04799	.	.	ENSG00000140030	ENST00000267549	T	0.36520	1.25	5.82	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	1.248090	0.05567	N	0.570504	T	0.26011	0.0634	L	0.33485	1.01	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.24548	-1.0157	10	0.15499	T	0.54	.	6.316	0.21190	0.3183:0.1275:0.5542:0.0	.	161	Q8IYL9	PSYR_HUMAN	N	161	ENSP00000267549:D161N	ENSP00000267549:D161N	D	+	1	0	GPR65	87547425	0.000000	0.05858	0.003000	0.11579	0.115000	0.19883	0.234000	0.17930	0.360000	0.24265	0.650000	0.86243	GAT		0.393	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
PTPN21	11099	broad.mit.edu	37	14	88935415	88935415	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:88935415G>T	ENST00000556564.1	-	18	3525	c.3241C>A	c.(3241-3243)Ctt>Att	p.L1081I	PTPN21_ENST00000328736.3_Missense_Mutation_p.L1081I	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1081	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.L1081I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCTCTTCAAGATATGCTGTG	0.448																																					p.L1081I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3241A	14						.						83.0	62.0	69.0					14																	88935415		2203	4300	6503	88005168	SO:0001583	missense	11099	exon18			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3241C>A	14.37:g.88935415G>T	ENSP00000452414:p.Leu1081Ile		88005168	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261851	0.59431	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000553531	D;D;D	0.82803	-1.65;-1.65;-1.65	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.85500	0.5711	L	0.35644	1.08	0.34601	D	0.716548	D	0.71674	0.998	D	0.87578	0.998	D	0.87867	0.2668	10	0.46703	T	0.11	.	10.1168	0.42596	0.1528:0.0:0.8472:0.0	.	1081	Q16825	PTN21_HUMAN	I	1081;1081;42	ENSP00000330276:L1081I;ENSP00000452414:L1081I;ENSP00000450847:L42I	ENSP00000330276:L1081I	L	-	1	0	PTPN21	88005168	1.000000	0.71417	0.998000	0.56505	0.370000	0.29829	2.365000	0.44196	2.733000	0.93635	0.655000	0.94253	CTT		0.448	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
PTPN21	11099	broad.mit.edu	37	14	88938683	88938683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:88938683G>A	ENST00000556564.1	-	15	3060	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R926*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	926	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.R926*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTTGGAATCGATTTCTTTCT	0.403																																					p.R926X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2776T	14						.						193.0	168.0	176.0					14																	88938683		2203	4300	6503	88008436	SO:0001587	stop_gained	11099	exon15			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2776C>T	14.37:g.88938683G>A	ENSP00000452414:p.Arg926*		88008436	NM_007039		Nonsense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	43	10.088578	0.99333	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.86	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6719	0.77286	0.0:0.0:0.6766:0.3234	.	.	.	.	X	926	.	ENSP00000330276:R926X	R	-	1	2	PTPN21	88008436	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.629000	0.54266	1.441000	0.47550	0.655000	0.94253	CGA		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
PTPN21	11099	broad.mit.edu	37	14	88971668	88971668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:88971668T>A	ENST00000556564.1	-	5	780	c.496A>T	c.(496-498)Aaa>Taa	p.K166*	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Nonsense_Mutation_p.K166*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	166	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.K166*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGGCAAATTTCTGAAGAAAG	0.333																																					p.K166X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A496T	14						.						100.0	107.0	104.0					14																	88971668		2203	4300	6503	88041421	SO:0001587	stop_gained	11099	exon5			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.496A>T	14.37:g.88971668T>A	ENSP00000452414:p.Lys166*		88041421	NM_007039		Nonsense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	38	7.208056	0.98136	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	.	.	.	5.18	5.18	0.71444	.	0.200155	0.43579	D	0.000558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3546	0.49609	0.0:0.0:0.1516:0.8483	.	.	.	.	X	166	.	ENSP00000330276:K166X	K	-	1	0	PTPN21	88041421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.659000	0.54489	2.076000	0.62316	0.533000	0.62120	AAA		0.333	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
ZC3H14	79882	broad.mit.edu	37	14	89034485	89034485	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:89034485G>A	ENST00000251038.5	+	3	407	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ZC3H14_ENST00000302216.8_Missense_Mutation_p.R61Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R61Q|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R61Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R27Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R27Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R61Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	61						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R61Q(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AACACAATTCGATTCACCGTA	0.423																																					p.R61Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182A	14						.						137.0	106.0	116.0					14																	89034485		2203	4300	6503	88104238	SO:0001583	missense	79882	exon3			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.182G>A	14.37:g.89034485G>A	ENSP00000251038:p.Arg61Gln		88104238	NM_001160104	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093410	0.76756	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.62	5.62	0.85841	.	0.059107	0.64402	D	0.000003	T	0.66742	0.2820	N	0.19112	0.55	0.38002	D	0.934252	D;D;P;D	0.63880	0.993;0.979;0.919;0.983	P;B;B;P	0.46172	0.506;0.409;0.169;0.49	T	0.66929	-0.5799	10	0.22706	T	0.39	-11.5101	19.6685	0.95901	0.0:0.0:1.0:0.0	.	61;61;61;61	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	Q	61;61;61;27;61;27;61;61;48;27;61;61;27;27;27	ENSP00000251038:R61Q;ENSP00000352250:R27Q;ENSP00000307025:R61Q;ENSP00000451638:R27Q;ENSP00000450474:R61Q;ENSP00000451389:R48Q;ENSP00000451489:R27Q;ENSP00000452475:R61Q;ENSP00000377150:R61Q;ENSP00000338002:R27Q;ENSP00000452210:R27Q;ENSP00000450451:R27Q	ENSP00000251038:R61Q	R	+	2	0	ZC3H14	88104238	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.874000	0.75546	2.639000	0.89480	0.655000	0.94253	CGA		0.423	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
EML5	161436	broad.mit.edu	37	14	89082538	89082538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:89082538G>A	ENST00000380664.5	-	41	5820	c.5821C>T	c.(5821-5823)Cga>Tga	p.R1941*	EML5_ENST00000352093.5_Nonsense_Mutation_p.R1903*|EML5_ENST00000554922.1_Nonsense_Mutation_p.R1949*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1941						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R1949*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGGTAAATCGAATATTTGTC	0.428																																					p.R1949X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5845T	14						.						164.0	154.0	157.0					14																	89082538		1921	4125	6046	88152291	SO:0001587	stop_gained	161436	exon42			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5821C>T	14.37:g.89082538G>A	ENSP00000370039:p.Arg1941*		88152291	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	48	14.012450	0.99775	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-7.6493	19.3663	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	1949;1903;1941	.	ENSP00000298315:R1903X	R	-	1	2	EML5	88152291	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.476000	0.97823	2.564000	0.86499	0.655000	0.94253	CGA		0.428	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89087606	89087606	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:89087606C>T	ENST00000380664.5	-	36	5028	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	EML5_ENST00000352093.5_Missense_Mutation_p.E1639K|EML5_ENST00000553320.1_5'UTR|EML5_ENST00000554922.1_Missense_Mutation_p.E1685K			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1677						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.E1685K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTCCAACTTCGATTATTTCA	0.413																																					p.E1685K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5053A	14						.						151.0	147.0	149.0					14																	89087606		1879	4107	5986	88157359	SO:0001583	missense	161436	exon37			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5029G>A	14.37:g.89087606C>T	ENSP00000370039:p.Glu1677Lys		88157359	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342748	0.95783	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.60548	3.59;3.59;3.59;0.18	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.83223	2.63	0.58432	D	0.999999	D	0.63046	0.992	P	0.54210	0.745	T	0.68554	-0.5378	10	0.13108	T	0.6	-27.2855	19.7763	0.96395	0.0:1.0:0.0:0.0	.	1677	Q05BV3	EMAL5_HUMAN	K	1685;1639;1677;126	ENSP00000451998:E1685K;ENSP00000298315:E1639K;ENSP00000370039:E1677K;ENSP00000452030:E126K	ENSP00000298315:E1639K	E	-	1	0	EML5	88157359	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	7.421000	0.80204	2.678000	0.91216	0.591000	0.81541	GAA		0.413	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89091350	89091350	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:89091350C>T	ENST00000380664.5	-	34	4837	c.4838G>A	c.(4837-4839)cGa>cAa	p.R1613Q	EML5_ENST00000352093.5_Missense_Mutation_p.R1575Q|EML5_ENST00000553320.1_5'UTR|EML5_ENST00000554922.1_Missense_Mutation_p.R1621Q			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1613						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.R1621Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTCCATCTCGCAGGGTGGT	0.473																																					p.R1621Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4862A	14						.						71.0	70.0	70.0					14																	89091350		1985	4170	6155	88161103	SO:0001583	missense	161436	exon35			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4838G>A	14.37:g.89091350C>T	ENSP00000370039:p.Arg1613Gln		88161103	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456194	0.96223	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.58358	3.6;3.6;3.6;0.34	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.057060	0.64402	D	0.000002	T	0.69459	0.3113	M	0.69358	2.11	0.51482	D	0.999924	D;D	0.89917	0.975;1.0	P;D	0.77557	0.75;0.99	T	0.63576	-0.6606	10	0.17832	T	0.49	-7.9597	18.5013	0.90882	0.0:1.0:0.0:0.0	.	1621;1613	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	Q	1621;1575;1613;62	ENSP00000451998:R1621Q;ENSP00000298315:R1575Q;ENSP00000370039:R1613Q;ENSP00000452030:R62Q	ENSP00000298315:R1575Q	R	-	2	0	EML5	88161103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.171000	0.77595	2.612000	0.88384	0.561000	0.74099	CGA		0.473	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EML5	161436	broad.mit.edu	37	14	89163195	89163195	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:89163195G>A	ENST00000380664.5	-	15	2339	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	EML5_ENST00000352093.5_Silent_p.F780F|EML5_ENST00000554922.1_Silent_p.F780F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	780						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.F780F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTTACCTGAGAAATCAACGG	0.393																																					p.F780F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2340T	14						.						68.0	69.0	69.0					14																	89163195		1900	4117	6017	88232948	SO:0001819	synonymous_variant	161436	exon15			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2340C>T	14.37:g.89163195G>A			88232948	NM_183387	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	CCDS45148.1																																																																																				0.393	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
EFCAB11	90141	broad.mit.edu	37	14	90420309	90420309	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:90420309G>T	ENST00000316738.7	-	2	140	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	RP11-33N16.3_ENST00000555070.1_RNA|TDP1_ENST00000335725.4_5'Flank|EFCAB11_ENST00000556005.1_Missense_Mutation_p.L14I|TDP1_ENST00000393452.3_5'Flank|EFCAB11_ENST00000555872.1_Missense_Mutation_p.L14I|EFCAB11_ENST00000556609.1_5'UTR|TDP1_ENST00000357382.3_5'Flank|EFCAB11_ENST00000267544.9_5'UTR|TDP1_ENST00000393454.2_5'Flank|EFCAB11_ENST00000538485.2_Missense_Mutation_p.L38I	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.L38I(1)		large_intestine(1)|lung(1)	2						TCTCTGCTGAGATATCCTTTG	0.353																																					p.L38I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C112A	14						.						112.0	109.0	110.0					14																	90420309		2203	4300	6503	89490062	SO:0001583	missense	90141	exon2			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.112C>A	14.37:g.90420309G>T	ENSP00000326267:p.Leu38Ile		89490062	NM_145231	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Missense_Mutation	SNP	ENST00000316738.7	37	CCDS9887.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745841	0.69418	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000538485;ENST00000556005	T;T;T;T	0.74106	0.09;0.09;-0.81;-0.81	5.8	3.95	0.45737	EF-hand-like domain (1);	0.000000	0.56097	D	0.000022	T	0.76572	0.4006	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	0.964;0.999;1.0;1.0	P;D;D;D	0.74348	0.857;0.959;0.983;0.97	T	0.75243	-0.3386	10	0.02654	T	1	-12.562	8.3489	0.32290	0.2591:0.0:0.7409:0.0	.	38;14;38;14	B7Z5G9;Q9BUY7-3;Q9BUY7;Q9BUY7-2	.;.;EFC11_HUMAN;.	I	38;14;38;14	ENSP00000326267:L38I;ENSP00000452320:L14I;ENSP00000438072:L38I;ENSP00000452143:L14I	ENSP00000326267:L38I	L	-	1	0	EFCAB11	89490062	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	1.049000	0.30392	1.433000	0.47394	0.655000	0.94253	CTC		0.353	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309022.2	NM_145231	
KCNK13	56659	broad.mit.edu	37	14	90650753	90650753	+	Silent	SNP	C	C	T	rs149915166	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:90650753C>T	ENST00000282146.4	+	2	1074	c.633C>T	c.(631-633)tgC>tgT	p.C211C		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	211					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.C211C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCTCTTGCTGCGCCTCAGCCA	0.562																																					p.C211C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	14						.	C		1,4405	2.1+/-5.4	0,1,2202	164.0	139.0	147.0		633	-10.6	0.0	14	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNK13	NM_022054.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		211/409	90650753	2,13004	2203	4300	6503	89720506	SO:0001819	synonymous_variant	56659	exon2			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.633C>T	14.37:g.90650753C>T			89720506	NM_022054	B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	CCDS9889.1																																																																																				0.562	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
NRDE2	55051	broad.mit.edu	37	14	90770503	90770503	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:90770503C>A	ENST00000354366.3	-	5	1013	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	NRDE2_ENST00000357904.3_Missense_Mutation_p.D30Y	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	261								p.D261Y(1)									GGAGCCGCATCTTCCAAGTCC	0.473																																					p.D261Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G781T	14						.						149.0	133.0	138.0					14																	90770503		2203	4300	6503	89840256	SO:0001583	missense	55051	exon5			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.781G>T	14.37:g.90770503C>A	ENSP00000346335:p.Asp261Tyr		89840256	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886128	0.33348	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.34072	1.86;1.38	5.49	5.49	0.81192	.	0.738080	0.13508	N	0.382694	T	0.32102	0.0818	L	0.57536	1.79	0.09310	N	1	P	0.44877	0.845	B	0.34722	0.188	T	0.37641	-0.9697	10	0.48119	T	0.1	-11.581	10.8593	0.46817	0.0:0.8854:0.0:0.1146	.	261	Q9H7Z3	CN102_HUMAN	Y	261;30	ENSP00000346335:D261Y;ENSP00000350579:D30Y	ENSP00000346335:D261Y	D	-	1	0	C14orf102	89840256	0.002000	0.14202	0.089000	0.20774	0.017000	0.09413	1.081000	0.30791	2.746000	0.94184	0.655000	0.94253	GAT		0.473	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
TTC7B	145567	broad.mit.edu	37	14	91121432	91121432	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91121432G>A	ENST00000328459.6	-	12	1485	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	TTC7B_ENST00000357056.2_Missense_Mutation_p.A455V	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	455								p.A455V(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GACAGTTTTGGCAAACTTTTC	0.463																																					p.A455V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1364T	14						.						97.0	85.0	89.0					14																	91121432		2203	4300	6503	90191185	SO:0001583	missense	145567	exon12			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1364C>T	14.37:g.91121432G>A	ENSP00000336127:p.Ala455Val		90191185	NM_001010854	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163443	0.94727	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.77750	-1.12;-1.12	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049216	0.85682	D	0.000000	D	0.82563	0.5064	M	0.68593	2.085	0.80722	D	1	P	0.50443	0.935	P	0.48368	0.575	D	0.84168	0.0432	10	0.87932	D	0	-17.7276	20.2985	0.98592	0.0:0.0:1.0:0.0	.	455	Q86TV6	TTC7B_HUMAN	V	353;455;455;197	ENSP00000349564:A455V;ENSP00000336127:A455V	ENSP00000336127:A455V	A	-	2	0	TTC7B	90191185	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.482000	0.73613	2.793000	0.96121	0.655000	0.94253	GCC		0.463	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2		
RPS6KA5	9252	broad.mit.edu	37	14	91341661	91341661	+	Missense_Mutation	SNP	C	C	T	rs373786141	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91341661C>T	ENST00000261991.3	-	15	2053	c.1880G>A	c.(1879-1881)cGa>cAa	p.R627Q	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R548Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	627	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R627Q(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CGTCAAACTTCGGTCATGAGA	0.428													C|||	14	0.00279553	0.0	0.0	5008	,	,		20365	0.0		0.0	False		,,,				2504	0.0143				p.R627Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1880A	14						.						70.0	71.0	71.0					14																	91341661		2203	4300	6503	90411414	SO:0001583	missense	9252	exon15			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1880G>A	14.37:g.91341661C>T	ENSP00000261991:p.Arg627Gln		90411414	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851160	0.32699	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.67698	-0.28;-0.28	5.43	3.29	0.37713	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.158248	0.56097	D	0.000031	T	0.44201	0.1282	N	0.20845	0.615	0.80722	D	1	B	0.25441	0.126	B	0.22753	0.041	T	0.13575	-1.0504	10	0.14656	T	0.56	.	6.7976	0.23734	0.0:0.374:0.0:0.626	.	627	O75582	KS6A5_HUMAN	Q	627;548	ENSP00000261991:R627Q;ENSP00000442803:R548Q	ENSP00000261991:R627Q	R	-	2	0	RPS6KA5	90411414	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.419000	0.34793	0.581000	0.29539	0.561000	0.74099	CGA		0.428	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
RPS6KA5	9252	broad.mit.edu	37	14	91386570	91386570	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91386570A>T	ENST00000261991.3	-	7	959	c.786T>A	c.(784-786)aaT>aaA	p.N262K	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.N262K|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N183K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	262	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N262K(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CAGCTTGGGAATTTTTTTCTC	0.353																																					p.N262K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T786A	14						.						86.0	93.0	91.0					14																	91386570		2203	4298	6501	90456323	SO:0001583	missense	9252	exon7			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.786T>A	14.37:g.91386570A>T	ENSP00000261991:p.Asn262Lys		90456323	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805124	0.50315	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.64438	-0.1;-0.1;-0.1	5.31	-1.11	0.09840	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047357	0.85682	D	0.000000	T	0.52933	0.1765	N	0.10629	0.01	0.58432	D	0.999997	D;D	0.89917	0.993;1.0	P;D	0.85130	0.885;0.997	T	0.47262	-0.9131	10	0.18276	T	0.48	.	9.7444	0.40437	0.6522:0.0:0.3478:0.0	.	262;262	O75582-2;O75582	.;KS6A5_HUMAN	K	262;183;262	ENSP00000261991:N262K;ENSP00000442803:N183K;ENSP00000402787:N262K	ENSP00000261991:N262K	N	-	3	2	RPS6KA5	90456323	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	2.607000	0.46300	-0.470000	0.06901	-0.256000	0.11100	AAT		0.353	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
RPS6KA5	9252	broad.mit.edu	37	14	91409509	91409509	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91409509A>G	ENST00000261991.3	-	5	704	c.531T>C	c.(529-531)gaT>gaC	p.D177D	RPS6KA5_ENST00000418736.2_Silent_p.D177D|RPS6KA5_ENST00000536315.2_Silent_p.D98D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	177	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D177D(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CAAGCTTAATATCACGATATA	0.313																																					p.D177D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T531C	14						.						65.0	62.0	63.0					14																	91409509		2203	4300	6503	90479262	SO:0001819	synonymous_variant	9252	exon5			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.531T>C	14.37:g.91409509A>G			90479262	NM_004755	O95316|Q96AF7	Silent	SNP	ENST00000261991.3	37	CCDS9893.1																																																																																				0.313	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
RPS6KA5	9252	broad.mit.edu	37	14	91413793	91413793	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91413793C>T	ENST00000261991.3	-	4	669	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E166K|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E87K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	166	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E166K(4)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGAGATGTTCGAGGGCAAGC	0.378																																					p.E166K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G496A	14						.						109.0	107.0	108.0					14																	91413793		2203	4300	6503	90483546	SO:0001583	missense	9252	exon4			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.496G>A	14.37:g.91413793C>T	ENSP00000261991:p.Glu166Lys		90483546	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396017	0.83011	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.65549	-0.16;-0.16;-0.16	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050610	0.85682	D	0.000000	T	0.74489	0.3723	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.965	T	0.76537	-0.2923	10	0.72032	D	0.01	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	166;166	O75582-2;O75582	.;KS6A5_HUMAN	K	166;87;166	ENSP00000261991:E166K;ENSP00000442803:E87K;ENSP00000402787:E166K	ENSP00000261991:E166K	E	-	1	0	RPS6KA5	90483546	1.000000	0.71417	0.986000	0.45419	0.473000	0.32948	7.440000	0.80464	2.502000	0.84385	0.591000	0.81541	GAA		0.378	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
C14orf159	80017	broad.mit.edu	37	14	91633717	91633717	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91633717G>T	ENST00000523771.1	+	4	855	c.252G>T	c.(250-252)gaG>gaT	p.E84D	C14orf159_ENST00000521077.2_Missense_Mutation_p.E84D|C14orf159_ENST00000428926.2_Missense_Mutation_p.E84D|C14orf159_ENST00000518665.2_Missense_Mutation_p.E84D|C14orf159_ENST00000520328.1_Missense_Mutation_p.E84D|C14orf159_ENST00000523816.1_Missense_Mutation_p.E84D|C14orf159_ENST00000519019.1_Missense_Mutation_p.E84D|C14orf159_ENST00000412671.2_Missense_Mutation_p.E84D|C14orf159_ENST00000518868.1_Missense_Mutation_p.E84D|C14orf159_ENST00000256324.10_Missense_Mutation_p.E84D|C14orf159_ENST00000525393.2_Intron|C14orf159_ENST00000517877.1_Missense_Mutation_p.E84D|C14orf159_ENST00000522322.1_Missense_Mutation_p.E84D|C14orf159_ENST00000298858.4_Missense_Mutation_p.E84D			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	84						mitochondrion (GO:0005739)		p.E84D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CTATCTCAGAGACCAGGTAAA	0.547																																					p.E84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G252T	14						.						97.0	93.0	95.0					14																	91633717		2203	4300	6503	90703470	SO:0001583	missense	80017	exon4			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.252G>T	14.37:g.91633717G>T	ENSP00000429655:p.Glu84Asp		90703470	NM_001102368	B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902658	0.17760	.	.	ENSG00000133943	ENST00000521334;ENST00000522837;ENST00000518871;ENST00000298858;ENST00000520328;ENST00000256324;ENST00000522170;ENST00000519950;ENST00000521077;ENST00000518665;ENST00000518868;ENST00000519019;ENST00000523816;ENST00000517518;ENST00000428926;ENST00000523894;ENST00000522322;ENST00000523771;ENST00000521064;ENST00000412671;ENST00000517877	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	2.04;0.96;2.04;0.97;2.04;2.04;2.04;2.04;2.04;0.97;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;1.2	5.35	-3.96	0.04106	.	0.318283	0.31092	N	0.008262	T	0.06096	0.0158	N	0.00095	-2.16	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.39354	-0.9618	10	0.02654	T	1	.	8.7492	0.34605	0.0:0.3133:0.1128:0.5738	.	84;84;84;84;84;84	Q7Z3D6-6;Q7Z3D6;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	.;CN159_HUMAN;.;.;.;.	D	84	ENSP00000430022:E84D;ENSP00000427971:E84D;ENSP00000429189:E84D;ENSP00000298858:E84D;ENSP00000429453:E84D;ENSP00000256324:E84D;ENSP00000430666:E84D;ENSP00000428296:E84D;ENSP00000430137:E84D;ENSP00000429098:E84D;ENSP00000428263:E84D;ENSP00000430318:E84D;ENSP00000428974:E84D;ENSP00000428652:E84D;ENSP00000404343:E84D;ENSP00000429459:E84D;ENSP00000427953:E84D;ENSP00000429655:E84D;ENSP00000429392:E84D;ENSP00000404196:E84D;ENSP00000429949:E84D	ENSP00000256324:E84D	E	+	3	2	C14orf159	90703470	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.478000	0.06575	-0.896000	0.03915	-0.311000	0.09066	GAG		0.547	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952	
SMEK1	55671	broad.mit.edu	37	14	91931745	91931745	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:91931745C>A	ENST00000554943.1	-	11	1794	c.1679G>T	c.(1678-1680)aGa>aTa	p.R560I	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.R321I|SMEK1_ENST00000337238.4_Missense_Mutation_p.R547I|SMEK1_ENST00000554684.1_Missense_Mutation_p.R547I|SMEK1_ENST00000428424.2_Missense_Mutation_p.R321I			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	560					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.R560I(1)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AATAATCTTTCTTTTAAAACG	0.348																																					p.R547I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1640T	14						.						83.0	83.0	83.0					14																	91931745		2203	4300	6503	91001498	SO:0001583	missense	55671	exon12			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1679G>T	14.37:g.91931745C>A	ENSP00000450883:p.Arg560Ile		91001498	NM_032560	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	17.23	3.337657	0.60963	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	6.15	6.15	0.99193	Armadillo-type fold (1);	0.041374	0.85682	D	0.000000	D	0.98077	0.9366	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	0.983;0.999;1.0	D	0.97849	1.0273	10	0.62326	D	0.03	-15.6355	20.8387	0.99724	0.0:1.0:0.0:0.0	.	321;560;547	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	I	547;547;321;560;321;547	ENSP00000450864:R547I;ENSP00000337125:R547I;ENSP00000392704:R321I;ENSP00000450883:R560I;ENSP00000450891:R321I;ENSP00000452596:R547I	ENSP00000337125:R547I	R	-	2	0	SMEK1	91001498	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	7.811000	0.86092	2.932000	0.99384	0.643000	0.83706	AGA		0.348	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560	
CATSPERB	79820	broad.mit.edu	37	14	92054395	92054395	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92054395C>A	ENST00000256343.3	-	25	3140	c.2984G>T	c.(2983-2985)aGa>aTa	p.R995I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	995					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.R995I(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGTTTCATTCTTTTAATATT	0.303																																					p.R995I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2984T	14						.						125.0	126.0	126.0					14																	92054395		2203	4298	6501	91124148	SO:0001583	missense	79820	exon25			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2984G>T	14.37:g.92054395C>A	ENSP00000256343:p.Arg995Ile		91124148	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332246	0.24167	.	.	ENSG00000133962	ENST00000256343	T	0.52295	0.67	5.27	-3.09	0.05331	.	0.829641	0.10325	N	0.688237	T	0.33904	0.0879	N	0.24115	0.695	0.09310	N	1	P	0.35656	0.514	B	0.38755	0.281	T	0.37619	-0.9698	10	0.72032	D	0.01	-11.7023	11.0107	0.47661	0.0:0.4535:0.0:0.5465	.	995	Q9H7T0	CTSRB_HUMAN	I	995	ENSP00000256343:R995I	ENSP00000256343:R995I	R	-	2	0	CATSPERB	91124148	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.068000	0.14531	-0.511000	0.06514	-2.299000	0.00261	AGA		0.303	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
CATSPERB	79820	broad.mit.edu	37	14	92058307	92058307	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92058307G>A	ENST00000256343.3	-	23	2905	c.2749C>T	c.(2749-2751)Cgg>Tgg	p.R917W		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	917					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.R917W(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACTCCTCCCGAGTGGAAACA	0.398																																					p.R917W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2749T	14						.						150.0	148.0	149.0					14																	92058307		2203	4300	6503	91128060	SO:0001583	missense	79820	exon23			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2749C>T	14.37:g.92058307G>A	ENSP00000256343:p.Arg917Trp		91128060	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655206	0.67472	.	.	ENSG00000133962	ENST00000256343	T	0.61510	0.1	5.27	5.27	0.74061	.	0.000000	0.45361	D	0.000367	T	0.72938	0.3523	M	0.64404	1.975	0.32084	N	0.592741	D	0.89917	1.0	D	0.97110	1.0	T	0.78692	-0.2105	10	0.87932	D	0	-12.25	14.4254	0.67212	0.0:0.0:1.0:0.0	.	917	Q9H7T0	CTSRB_HUMAN	W	917	ENSP00000256343:R917W	ENSP00000256343:R917W	R	-	1	2	CATSPERB	91128060	0.947000	0.32204	0.151000	0.22473	0.637000	0.38172	2.066000	0.41452	2.463000	0.83235	0.467000	0.42956	CGG		0.398	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
CATSPERB	79820	broad.mit.edu	37	14	92088187	92088187	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92088187C>A	ENST00000256343.3	-	19	2181	c.2025G>T	c.(2023-2025)aaG>aaT	p.K675N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	675					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.K675N(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTAATGCATTCTTATTATCTA	0.423																																					p.K675N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2025T	14						.						95.0	85.0	89.0					14																	92088187		2203	4300	6503	91157940	SO:0001583	missense	79820	exon19			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2025G>T	14.37:g.92088187C>A	ENSP00000256343:p.Lys675Asn		91157940	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630467	0.28978	.	.	ENSG00000133962	ENST00000256343	T	0.44881	0.91	5.43	-1.56	0.08532	.	2.022300	0.02197	N	0.061882	T	0.27349	0.0671	L	0.31926	0.97	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.05566	-1.0877	10	0.22109	T	0.4	0.4772	0.6391	0.00807	0.3474:0.2869:0.122:0.2437	.	675	Q9H7T0	CTSRB_HUMAN	N	675	ENSP00000256343:K675N	ENSP00000256343:K675N	K	-	3	2	CATSPERB	91157940	0.000000	0.05858	0.052000	0.19188	0.160000	0.22226	-0.341000	0.07811	-0.018000	0.14079	0.591000	0.81541	AAG		0.423	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
CATSPERB	79820	broad.mit.edu	37	14	92126257	92126257	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92126257C>A	ENST00000256343.3	-	15	1512	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	452					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.K452N(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GAAAAGTCTTCTTTATGATAT	0.333																																					p.K452N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1356T	14						.						77.0	78.0	78.0					14																	92126257		2203	4299	6502	91196010	SO:0001583	missense	79820	exon15			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1356G>T	14.37:g.92126257C>A	ENSP00000256343:p.Lys452Asn		91196010	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	6.205	0.405946	0.11754	.	.	ENSG00000133962	ENST00000256343	T	0.46063	0.88	4.76	3.87	0.44632	.	1.152260	0.06413	N	0.721012	T	0.43456	0.1248	L	0.50333	1.59	0.09310	N	1	B	0.22983	0.078	B	0.28232	0.087	T	0.39860	-0.9593	10	0.42905	T	0.14	-1.4105	11.4097	0.49919	0.0:0.8173:0.1827:0.0	.	452	Q9H7T0	CTSRB_HUMAN	N	452	ENSP00000256343:K452N	ENSP00000256343:K452N	K	-	3	2	CATSPERB	91196010	0.000000	0.05858	0.002000	0.10522	0.135000	0.20990	0.015000	0.13355	1.116000	0.41820	-0.273000	0.10243	AAG		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
CATSPERB	79820	broad.mit.edu	37	14	92189396	92189396	+	Silent	SNP	C	C	A	rs141312058	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92189396C>A	ENST00000256343.3	-	4	462	c.306G>T	c.(304-306)acG>acT	p.T102T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	102					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.T102T(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TAATTACCAACGTTAAATTAA	0.328																																					p.T102T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306T	14						.						118.0	116.0	116.0					14																	92189396		2203	4300	6503	91259149	SO:0001819	synonymous_variant	79820	exon4			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.306G>T	14.37:g.92189396C>A			91259149	NM_024764	A0AV51	Silent	SNP	ENST00000256343.3	37	CCDS32142.1																																																																																				0.328	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
CATSPERB	79820	broad.mit.edu	37	14	92191463	92191463	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92191463C>A	ENST00000256343.3	-	3	285	c.129G>T	c.(127-129)gaG>gaT	p.E43D		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	43					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.E43D(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTATTTCATTCTCTTGAGGGA	0.318																																					p.E43D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	14						.						73.0	67.0	69.0					14																	92191463		2202	4297	6499	91261216	SO:0001583	missense	79820	exon3			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.129G>T	14.37:g.92191463C>A	ENSP00000256343:p.Glu43Asp		91261216	NM_024764	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392869	0.25118	.	.	ENSG00000133962	ENST00000256343;ENST00000553329;ENST00000554560;ENST00000556661;ENST00000553676	T	0.44482	0.92	5.0	-4.48	0.03515	.	1.706150	0.03362	N	0.197753	T	0.23886	0.0578	N	0.22421	0.69	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.08680	-1.0710	10	0.20046	T	0.44	0.3217	4.2872	0.10860	0.231:0.2353:0.4464:0.0873	.	43	Q9H7T0	CTSRB_HUMAN	D	43	ENSP00000256343:E43D	ENSP00000256343:E43D	E	-	3	2	CATSPERB	91261216	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.530000	0.06179	-0.654000	0.05394	-0.182000	0.12963	GAG		0.318	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
FBLN5	10516	broad.mit.edu	37	14	92343955	92343955	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92343955T>C	ENST00000342058.4	-	10	1654	c.1061A>G	c.(1060-1062)gAc>gGc	p.D354G	FBLN5_ENST00000556154.1_Missense_Mutation_p.D359G|FBLN5_ENST00000267620.10_Missense_Mutation_p.D395G|FBLN5_ENST00000556961.1_5'Flank	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	354					cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.D354G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGACACCACGTCCATGTCCCG	0.542																																					p.D354G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1061G	14						.						127.0	110.0	116.0					14																	92343955		2203	4300	6503	91413708	SO:0001583	missense	10516	exon10			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.1061A>G	14.37:g.92343955T>C	ENSP00000345008:p.Asp354Gly		91413708	NM_006329	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	CCDS9898.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.181085|5.181085	0.94846|0.94846	.|.	.|.	ENSG00000140092|ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154|ENST00000554121	D;D;D|.	0.82526|.	-1.6;-1.62;-1.58|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61627|0.61627	0.2362|0.2362	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.994;0.99|.	D;P;P|.	0.91635|.	0.999;0.879;0.677|.	T|T	0.57100|0.57100	-0.7869|-0.7869	10|5	0.54805|.	T|.	0.06|.	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	395;359;354|.	G3XA98;G3V4U0;Q9UBX5|.	.;.;FBLN5_HUMAN|.	G|A	395;354;359|63	ENSP00000267620:D395G;ENSP00000345008:D354G;ENSP00000451982:D359G|.	ENSP00000267620:D451G|.	D|T	-|-	2|1	0|0	FBLN5|FBLN5	91413708|91413708	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	5.084000|5.084000	0.64462|0.64462	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAC|ACG		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		
TRIP11	9321	broad.mit.edu	37	14	92471598	92471598	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92471598G>T	ENST00000267622.4	-	11	3095	c.2722C>A	c.(2722-2724)Ctt>Att	p.L908I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	908					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L908I(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCCTCTTCAAGATGTTCCTTG	0.398			T	PDGFRB	AML																																p.L908I	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2722A	14						.						196.0	171.0	180.0					14																	92471598		2203	4300	6503	91541351	SO:0001583	missense	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2722C>A	14.37:g.92471598G>T	ENSP00000267622:p.Leu908Ile		91541351	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.803580|1.803580	0.31869|0.31869	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.08546|.	3.08|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.458950|.	0.23714|.	N|.	0.045296|.	T|T	0.57388|0.57388	0.2050|0.2050	M|M	0.63843|0.63843	1.955|1.955	0.30036|0.30036	N|N	0.813088|0.813088	D;D|.	0.67145|.	0.972;0.996|.	P;D|.	0.64776|.	0.592;0.929|.	T|T	0.58411|0.58411	-0.7641|-0.7641	10|5	0.52906|.	T|.	0.07|.	.|.	13.7479|13.7479	0.62887|0.62887	0.0698:0.0:0.9302:0.0|0.0698:0.0:0.9302:0.0	.|.	644;908|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	I|Y	908;644|623	ENSP00000267622:L908I|.	ENSP00000267622:L908I|.	L|S	-|-	1|2	0|0	TRIP11|TRIP11	91541351|91541351	1.000000|1.000000	0.71417|0.71417	0.549000|0.549000	0.28204|0.28204	0.327000|0.327000	0.28475|0.28475	3.193000|3.193000	0.50997|0.50997	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.398	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
SLC24A4	123041	broad.mit.edu	37	14	92959951	92959951	+	Silent	SNP	G	G	A	rs537146844		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:92959951G>A	ENST00000532405.1	+	17	2074	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	SLC24A4_ENST00000393265.2_Silent_p.P552P|SLC24A4_ENST00000531433.1_Silent_p.P597P|SLC24A4_ENST00000298877.1_Silent_p.P599P|SLC24A4_ENST00000351924.5_Silent_p.P580P			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	616					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.P599P(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCAACTTGCCGATGTGCCGGG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19697	0.0		0.0	False		,,,				2504	0.0				p.P616P	NSCLC(10;315 435 10383 28450 38798)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1848A	14						.						153.0	123.0	133.0					14																	92959951		2203	4300	6503	92029704	SO:0001819	synonymous_variant	123041	exon17			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1848G>A	14.37:g.92959951G>A			92029704	NM_153646	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	CCDS9903.2																																																																																				0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646	
RIN3	79890	broad.mit.edu	37	14	93043795	93043795	+	Missense_Mutation	SNP	G	G	A	rs139542247		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93043795G>A	ENST00000216487.7	+	3	499	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	114	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E114*(1)|p.E114K(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CGAGGTGCTCGAATACACCAT	0.522																																					p.E114K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G340A	14						.	G	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	107.0	103.0	104.0		340	4.0	0.2	14	dbSNP_134	104	0,8600		0,0,4300	no	missense	RIN3	NM_024832.3	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	114/986	93043795	2,13004	2203	4300	6503	92113548	SO:0001583	missense	79890	exon3			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.340G>A	14.37:g.93043795G>A	ENSP00000216487:p.Glu114Lys		92113548	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733764	0.30684	4.54E-4	0.0	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.29397	1.57	4.91	4.01	0.46588	SH2 motif (3);	0.338794	0.29273	N	0.012623	T	0.54240	0.1846	M	0.78801	2.425	0.80722	D	1	D;P	0.89917	1.0;0.956	D;B	0.77557	0.99;0.296	T	0.58532	-0.7620	10	0.72032	D	0.01	-15.2306	11.5957	0.50972	0.0:0.18:0.82:0.0	.	39;114	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	K	114	ENSP00000216487:E114K	ENSP00000216487:E114K	E	+	1	0	RIN3	92113548	0.993000	0.37304	0.233000	0.24025	0.004000	0.04260	2.689000	0.46993	1.184000	0.42957	0.655000	0.94253	GAA		0.522	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
LGMN	5641	broad.mit.edu	37	14	93170702	93170702	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93170702T>G	ENST00000393218.2	-	15	1601	c.1264A>C	c.(1264-1266)Aaa>Caa	p.K422Q	LGMN_ENST00000557434.1_Missense_Mutation_p.K365Q|LGMN_ENST00000555699.1_Missense_Mutation_p.K342T|LGMN_ENST00000334869.4_Missense_Mutation_p.K422Q	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	422					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.K422Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATGGACAATTTTATCCTGCGA	0.532																																					p.K422Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1264C	14						.						72.0	64.0	67.0					14																	93170702		2203	4300	6503	92240455	SO:0001583	missense	5641	exon15			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1264A>C	14.37:g.93170702T>G	ENSP00000376911:p.Lys422Gln		92240455	NM_001008530	O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	CCDS9904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.806|9.806	1.181741|1.181741	0.21787|0.21787	.|.	.|.	ENSG00000100600|ENSG00000100600	ENST00000334869;ENST00000557434;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855|ENST00000555699;ENST00000334864	T;T;T|T	0.44881|0.48201	0.94;0.91;0.94|0.82	4.89|4.89	3.69|3.69	0.42338|0.42338	.|.	0.559530|0.559530	0.21173|0.21173	N|N	0.078956|0.078956	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B|P	0.12013|0.37914	0.005;0.005;0.003|0.611	B;B;B|B	0.10450|0.35550	0.005;0.005;0.002|0.205	T|T	0.20739|0.20739	-1.0266|-1.0266	10|10	0.25106|0.34782	T|T	0.35|0.22	-17.1113|-17.1113	4.9187|4.9187	0.13858|0.13858	0.2016:0.0895:0.0:0.709|0.2016:0.0895:0.0:0.709	.|.	422;422;365|342	A8K669;Q99538;Q86TV3|Q86TV2	.;LGMN_HUMAN;.|.	Q|T	422;365;365;422;399;387|342	ENSP00000334052:K422Q;ENSP00000452572:K365Q;ENSP00000376911:K422Q|ENSP00000451861:K342T	ENSP00000262004:K365Q|ENSP00000334206:K342T	K|K	-|-	1|2	0|0	LGMN|LGMN	92240455|92240455	0.174000|0.174000	0.23070|0.23070	0.307000|0.307000	0.25127|0.25127	0.484000|0.484000	0.33280|0.33280	0.450000|0.450000	0.21762|0.21762	0.778000|0.778000	0.33520|0.33520	0.449000|0.449000	0.29647|0.29647	AAA|AAA		0.532	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606	
GOLGA5	9950	broad.mit.edu	37	14	93263822	93263822	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93263822C>A	ENST00000163416.2	+	2	296	c.40C>A	c.(40-42)Ctt>Att	p.L14I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L14I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	14					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.L14I(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GGCAGAAGATCTTTTAAACCG	0.408			T	RET	papillary thyroid																																p.L14I			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40A	14						.						72.0	65.0	68.0					14																	93263822		2203	4300	6503	92333575	SO:0001583	missense	9950	exon2			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.40C>A	14.37:g.93263822C>A	ENSP00000163416:p.Leu14Ile		92333575	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312227	0.81358	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.42900	0.97;0.96	5.51	5.51	0.81932	.	0.000000	0.44285	D	0.000477	T	0.50326	0.1609	M	0.65975	2.015	0.38900	D	0.957294	D	0.53745	0.962	P	0.49361	0.608	T	0.56450	-0.7977	10	0.59425	D	0.04	-13.6872	13.0533	0.58966	0.0:0.9263:0.0:0.0737	.	14	Q8TBA6	GOGA5_HUMAN	I	14	ENSP00000163416:L14I;ENSP00000348252:L14I	ENSP00000163416:L14I	L	+	1	0	GOLGA5	92333575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.893000	0.63199	2.738000	0.93877	0.655000	0.94253	CTT		0.408	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
GOLGA5	9950	broad.mit.edu	37	14	93264120	93264120	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93264120G>T	ENST00000163416.2	+	2	594	c.338G>T	c.(337-339)aGa>aTa	p.R113I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R113I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	113					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.R113I(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTTGTGCGAAGAAAAAAGTCA	0.453			T	RET	papillary thyroid																																p.R113I			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338T	14						.						91.0	89.0	90.0					14																	93264120		2203	4300	6503	92333873	SO:0001583	missense	9950	exon2			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.338G>T	14.37:g.93264120G>T	ENSP00000163416:p.Arg113Ile		92333873	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576348	0.86645	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.34667	1.36;1.35	5.45	5.45	0.79879	.	0.000000	0.53938	D	0.000051	T	0.45895	0.1365	M	0.65975	2.015	0.80722	D	1	P	0.49961	0.93	P	0.44732	0.459	T	0.49916	-0.8888	10	0.59425	D	0.04	-23.2732	19.6558	0.95837	0.0:0.0:1.0:0.0	.	113	Q8TBA6	GOGA5_HUMAN	I	113	ENSP00000163416:R113I;ENSP00000348252:R113I	ENSP00000163416:R113I	R	+	2	0	GOLGA5	92333873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.811000	0.62606	2.719000	0.93026	0.655000	0.94253	AGA		0.453	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
GOLGA5	9950	broad.mit.edu	37	14	93290922	93290922	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93290922G>A	ENST00000163416.2	+	9	1908	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R551Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	551					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.R551Q(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GATCTTTATCGAACAAAGAAC	0.363			T	RET	papillary thyroid																																p.R551Q			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652A	14						.						94.0	91.0	92.0					14																	93290922		2203	4300	6503	92360675	SO:0001583	missense	9950	exon9			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1652G>A	14.37:g.93290922G>A	ENSP00000163416:p.Arg551Gln		92360675	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990694	0.93106	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.42900	0.96;0.96	5.66	4.77	0.60923	.	0.000000	0.37348	N	0.002123	T	0.35770	0.0943	L	0.46614	1.455	0.58432	D	0.99999	P	0.49358	0.923	B	0.41917	0.37	T	0.11227	-1.0596	10	0.32370	T	0.25	-12.9377	10.9682	0.47424	0.1429:0.0:0.8571:0.0	.	551	Q8TBA6	GOGA5_HUMAN	Q	551;551;460	ENSP00000163416:R551Q;ENSP00000348252:R551Q	ENSP00000163416:R551Q	R	+	2	0	GOLGA5	92360675	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	5.619000	0.67729	1.527000	0.49086	0.655000	0.94253	CGA		0.363	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
GOLGA5	9950	broad.mit.edu	37	14	93299660	93299660	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93299660C>T	ENST00000163416.2	+	10	2169	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S638L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	638					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.S638L(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AATGGGTCTTCGATTAATATG	0.408			T	RET	papillary thyroid																																p.S638L			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1913T	14						.						107.0	107.0	107.0					14																	93299660		2203	4300	6503	92369413	SO:0001583	missense	9950	exon10			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1913C>T	14.37:g.93299660C>T	ENSP00000163416:p.Ser638Leu		92369413	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.51|14.51	2.556183|2.556183	0.45487|0.45487	.|.	.|.	ENSG00000066455|ENSG00000066455	ENST00000554700|ENST00000163416;ENST00000355976;ENST00000439315	.|T;T	.|0.47177	.|0.85;0.85	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.146686	.|0.31589	.|N	.|0.007383	.|T	.|0.50599	.|0.1625	M|M	0.76170|0.76170	2.325|2.325	0.46725|0.46725	D|D	0.999178|0.999178	.|B	.|0.25667	.|0.131	.|B	.|0.28991	.|0.097	.|T	.|0.50898	.|-0.8773	.|10	.|0.11485	.|T	.|0.65	-4.3359|-4.3359	18.7034|18.7034	0.91629|0.91629	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|638	.|Q8TBA6	.|GOGA5_HUMAN	X|L	64|638;638;547	.|ENSP00000163416:S638L;ENSP00000348252:S638L	.|ENSP00000163416:S638L	R|S	+|+	1|2	2|0	GOLGA5|GOLGA5	92369413|92369413	0.734000|0.734000	0.28142|0.28142	0.013000|0.013000	0.15412|0.15412	0.317000|0.317000	0.28152|0.28152	5.173000|5.173000	0.65010|0.65010	2.417000|2.417000	0.82017|0.82017	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.408	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
ITPK1	3705	broad.mit.edu	37	14	93460334	93460334	+	Silent	SNP	G	G	A	rs375334505		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93460334G>A	ENST00000267615.6	-	5	428	c.255C>T	c.(253-255)atC>atT	p.I85I	ITPK1_ENST00000556954.1_Intron|ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.I85I|ITPK1_ENST00000354313.3_Silent_p.I85I			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	85					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)	p.I85I(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGTGGGCATCGATGTACTCCT	0.597																																					p.I85I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C255T	14						.						162.0	123.0	136.0					14																	93460334		2203	4300	6503	92530087	SO:0001819	synonymous_variant	3705	exon5			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.255C>T	14.37:g.93460334G>A			92530087	NM_001142594	Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	37	CCDS9907.1																																																																																				0.597	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216	
MOAP1	64112	broad.mit.edu	37	14	93649666	93649666	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:93649666G>A	ENST00000556883.1	-	2	1406	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	MOAP1_ENST00000298894.4_Missense_Mutation_p.R308C|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	308					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.R308C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agctctctgcgaattgttttg	0.502																																					p.R308C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922T	14						.						106.0	106.0	106.0					14																	93649666		2203	4300	6503	92719419	SO:0001583	missense	64112	exon3			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.922C>T	14.37:g.93649666G>A	ENSP00000451594:p.Arg308Cys		92719419	NM_022151	B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723327	0.15439	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10668	2.85;2.85	3.15	1.18	0.20946	.	.	.	.	.	T	0.18551	0.0445	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.67231	0.95	T	0.10245	-1.0638	9	0.72032	D	0.01	4.1608	5.5827	0.17258	0.0:0.2232:0.547:0.2299	.	308	Q96BY2	MOAP1_HUMAN	C	308	ENSP00000298894:R308C;ENSP00000451594:R308C	ENSP00000298894:R308C	R	-	1	0	MOAP1	92719419	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.075000	0.11431	0.319000	0.23209	-0.188000	0.12872	CGC		0.502	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1		
UNC79	57578	broad.mit.edu	37	14	94008989	94008989	+	Missense_Mutation	SNP	C	C	T	rs375043069		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94008989C>T	ENST00000393151.2	+	14	1702	c.1702C>T	c.(1702-1704)Cgc>Tgc	p.R568C	UNC79_ENST00000553484.1_Missense_Mutation_p.R568C|UNC79_ENST00000555664.1_Missense_Mutation_p.R568C|UNC79_ENST00000256339.4_Missense_Mutation_p.R391C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	568					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R391C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGTGATGTTCGCTTCGATGT	0.488																																					p.R391C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	14						.	C	CYS/ARG	0,4406		0,0,2203	283.0	243.0	257.0		1171	5.9	1.0	14		257	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	391/2459	94008989	1,13005	2203	4300	6503	93078742	SO:0001583	missense	57578	exon14			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1702C>T	14.37:g.94008989C>T	ENSP00000376858:p.Arg568Cys		93078742	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	33	5.244956	0.95272	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.18;2.17;2.18;2.18	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.10222	-1.0639	10	0.72032	D	0.01	-19.2761	20.3129	0.98645	0.0:1.0:0.0:0.0	.	568	C9JQL1	.	C	391;568;568;568;568	ENSP00000256339:R391C;ENSP00000450868:R568C;ENSP00000451360:R568C;ENSP00000376858:R568C	ENSP00000256339:R391C	R	+	1	0	KIAA1409	93078742	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.049000	0.71053	2.800000	0.96347	0.650000	0.86243	CGC		0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94038411	94038411	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94038411G>A	ENST00000393151.2	+	15	1927	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	UNC79_ENST00000553484.1_Missense_Mutation_p.E643K|UNC79_ENST00000555664.1_Missense_Mutation_p.E643K|UNC79_ENST00000256339.4_Missense_Mutation_p.E466K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	643					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E466K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGTTAAAAGAATTCAGGGA	0.408																																					p.E466K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1396A	14						.						50.0	52.0	51.0					14																	94038411		2203	4300	6503	93108164	SO:0001583	missense	57578	exon15			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1927G>A	14.37:g.94038411G>A	ENSP00000376858:p.Glu643Lys		93108164	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.576260	0.86645	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.24538	1.85;1.86;1.85;1.86	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	L	0.41492	1.28	0.52501	D	0.999954	D	0.61697	0.99	D	0.72982	0.979	T	0.26430	-1.0103	10	0.54805	T	0.06	-6.467	14.5782	0.68265	0.0701:0.0:0.9299:0.0	.	643	C9JQL1	.	K	466;643;643;643;643	ENSP00000256339:E466K;ENSP00000450868:E643K;ENSP00000451360:E643K;ENSP00000376858:E643K	ENSP00000256339:E466K	E	+	1	0	KIAA1409	93108164	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.460000	0.97641	1.429000	0.47314	0.650000	0.86243	GAA		0.408	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94044293C>T	ENST00000393151.2	+	18	2317	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	UNC79_ENST00000553484.1_Missense_Mutation_p.R773C|UNC79_ENST00000555664.1_Missense_Mutation_p.R773C|UNC79_ENST00000256339.4_Missense_Mutation_p.R596C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	773					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R596C(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGTCCGTTTCGTAGCCCTTT	0.433																																					p.R596C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786T	14						.						227.0	208.0	215.0					14																	94044293		2203	4300	6503	93114046	SO:0001583	missense	57578	exon18			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2317C>T	14.37:g.94044293C>T	ENSP00000376858:p.Arg773Cys		93114046	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.127326	0.77549	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.33	5.33	0.75918	.	0.077647	0.53938	D	0.000041	T	0.29256	0.0728	L	0.29908	0.895	0.53688	D	0.999975	D	0.64830	0.994	P	0.53224	0.721	T	0.02081	-1.1217	10	0.59425	D	0.04	-8.5423	19.0159	0.92894	0.0:1.0:0.0:0.0	.	773	C9JQL1	.	C	596;773;773;773;773	ENSP00000256339:R596C;ENSP00000450868:R773C;ENSP00000451360:R773C;ENSP00000376858:R773C	ENSP00000256339:R596C	R	+	1	0	KIAA1409	93114046	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.593000	0.67550	2.502000	0.84385	0.650000	0.86243	CGT		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94079406	94079406	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94079406G>A	ENST00000393151.2	+	27	4018	c.4018G>A	c.(4018-4020)Gca>Aca	p.A1340T	UNC79_ENST00000553484.1_Missense_Mutation_p.A1362T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1340T|UNC79_ENST00000256339.4_Missense_Mutation_p.A1163T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1340					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1163T(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGCTTTAATGCATTCATTGC	0.433																																					p.A1163T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3487A	14						.						113.0	96.0	102.0					14																	94079406		2203	4300	6503	93149159	SO:0001583	missense	57578	exon27			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4018G>A	14.37:g.94079406G>A	ENSP00000376858:p.Ala1340Thr		93149159	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	32	5.157185	0.94686	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.27104	1.78;1.72;1.69;1.78	5.56	5.56	0.83823	.	0.049628	0.85682	D	0.000000	T	0.49338	0.1551	L	0.55990	1.75	0.49051	D	0.999745	D	0.71674	0.998	D	0.78314	0.991	T	0.45308	-0.9270	10	0.72032	D	0.01	-13.8774	19.5316	0.95231	0.0:0.0:1.0:0.0	.	1362	C9JQL1	.	T	1163;1340;1362;1340;1362	ENSP00000256339:A1163T;ENSP00000450868:A1340T;ENSP00000451360:A1362T;ENSP00000376858:A1340T	ENSP00000256339:A1163T	A	+	1	0	KIAA1409	93149159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.617000	0.88574	0.650000	0.86243	GCA		0.433	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94152982	94152982	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94152982A>G	ENST00000393151.2	+	44	7001	c.7001A>G	c.(7000-7002)gAc>gGc	p.D2334G	UNC79_ENST00000553484.1_Missense_Mutation_p.D2356G|UNC79_ENST00000555664.1_Missense_Mutation_p.D2295G|UNC79_ENST00000256339.4_Missense_Mutation_p.D2157G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2334					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2157G(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCATGGCAGACATGCACACG	0.502																																					p.D2157G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6470G	14						.						206.0	140.0	162.0					14																	94152982		2203	4300	6503	93222735	SO:0001583	missense	57578	exon44			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7001A>G	14.37:g.94152982A>G	ENSP00000376858:p.Asp2334Gly		93222735	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	19.72	3.880965	0.72294	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.34472	1.37;1.41;1.36;1.38	5.65	5.65	0.86999	.	0.044925	0.85682	D	0.000000	T	0.45696	0.1355	M	0.73962	2.25	0.80722	D	1	B	0.23591	0.088	B	0.31614	0.133	T	0.46233	-0.9206	10	0.72032	D	0.01	-25.3802	15.849	0.78912	1.0:0.0:0.0:0.0	.	2356	C9JQL1	.	G	2157;2295;2356;2334;2356	ENSP00000256339:D2157G;ENSP00000450868:D2295G;ENSP00000451360:D2356G;ENSP00000376858:D2334G	ENSP00000256339:D2157G	D	+	2	0	KIAA1409	93222735	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.842000	0.92136	2.285000	0.76669	0.533000	0.62120	GAC		0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
FAM181A	90050	broad.mit.edu	37	14	94394676	94394676	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94394676C>T	ENST00000267594.5	+	3	538	c.231C>T	c.(229-231)aaC>aaT	p.N77N	FAM181A_ENST00000557000.2_Silent_p.N15N|FAM181A_ENST00000556222.1_Silent_p.N15N|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Silent_p.N15N	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	77								p.N77N(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ACTTCGTGAACCTGGCGTCCA	0.602																																					p.N77N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	14						.						84.0	74.0	77.0					14																	94394676		2203	4300	6503	93464429	SO:0001819	synonymous_variant	90050	exon3			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.231C>T	14.37:g.94394676C>T			93464429	NM_138344	B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	CCDS9914.1																																																																																				0.602	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
FAM181A	90050	broad.mit.edu	37	14	94395495	94395495	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94395495C>A	ENST00000267594.5	+	3	1357	c.1050C>A	c.(1048-1050)gtC>gtA	p.V350V	FAM181A_ENST00000557000.2_Silent_p.V288V|FAM181A_ENST00000556222.1_Silent_p.V288V|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Silent_p.V288V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	350								p.V350V(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TCTTCAATGTCTTTGGCTACC	0.657																																					p.V350V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050A	14						.						28.0	33.0	32.0					14																	94395495		2106	4137	6243	93465248	SO:0001819	synonymous_variant	90050	exon3			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.1050C>A	14.37:g.94395495C>A			93465248	NM_138344	B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	CCDS9914.1																																																																																				0.657	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
OTUB2	78990	broad.mit.edu	37	14	94505427	94505427	+	Splice_Site	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94505427A>C	ENST00000203664.5	+	3	427	c.218A>C	c.(217-219)aAg>aCg	p.K73T	OTUB2_ENST00000553723.1_Missense_Mutation_p.K73T	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	73	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.K73T(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		GAGATCTTCAAGTGAGTGCCG	0.582																																					p.K73T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A218C	14						.						66.0	68.0	67.0					14																	94505427		2203	4300	6503	93575180	SO:0001630	splice_region_variant	78990	exon3			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.218+1A>C	14.37:g.94505427A>C			93575180	NM_023112	Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410738	0.42817	.	.	ENSG00000089723	ENST00000203664;ENST00000553723	T	0.43688	0.94	5.36	1.63	0.23807	Ovarian tumour, otubain (1);	0.274273	0.38663	N	0.001613	T	0.30386	0.0763	L	0.32530	0.975	0.33178	D	0.549167	B	0.12013	0.005	B	0.25614	0.062	T	0.25433	-1.0132	10	0.59425	D	0.04	-12.7263	7.8261	0.29315	0.4219:0.0:0.5781:0.0	.	73	Q96DC9	OTUB2_HUMAN	T	73	ENSP00000203664:K73T	ENSP00000203664:K73T	K	+	2	0	OTUB2	93575180	0.999000	0.42202	0.999000	0.59377	0.639000	0.38242	0.456000	0.21859	0.033000	0.15463	0.459000	0.35465	AAG		0.582	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1		Missense_Mutation
DDX24	57062	broad.mit.edu	37	14	94521491	94521491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94521491G>A	ENST00000330836.5	-	7	2160	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	DDX24_ENST00000555054.1_Nonsense_Mutation_p.R634*|DDX24_ENST00000544005.1_Nonsense_Mutation_p.R427*	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	677	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R677*(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGTTCGACCACTTCGG	0.493																																					p.R677X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2029T	14						.						134.0	122.0	126.0					14																	94521491		2203	4300	6503	93591244	SO:0001587	stop_gained	57062	exon7			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2029C>T	14.37:g.94521491G>A	ENSP00000328690:p.Arg677*		93591244	NM_020414	E7EMJ4|Q4V9L5	Nonsense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	38	6.799542	0.97849	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	.	.	.	5.43	3.61	0.41365	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0148	6.2943	0.21077	0.1393:0.0:0.6074:0.2534	.	.	.	.	X	677;427;622;303;634;634	.	ENSP00000328690:R677X	R	-	1	2	DDX24	93591244	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.727000	0.47311	0.785000	0.33685	-0.136000	0.14681	CGA		0.493	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	
DDX24	57062	broad.mit.edu	37	14	94526849	94526849	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94526849G>A	ENST00000330836.5	-	5	1639	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	DDX24_ENST00000555054.1_Missense_Mutation_p.T460M|DDX24_ENST00000544005.1_Missense_Mutation_p.T253M	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	503	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.T503M(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAAAACAAGCGTTTGTCTCTT	0.478																																					p.T503M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1508T	14						.						166.0	153.0	157.0					14																	94526849		2203	4300	6503	93596602	SO:0001583	missense	57062	exon5			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1508C>T	14.37:g.94526849G>A	ENSP00000328690:p.Thr503Met		93596602	NM_020414	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976069	0.74360	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.15952	2.38;2.38;2.38	5.45	5.45	0.79879	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.047609	0.85682	D	0.000000	T	0.31482	0.0798	M	0.63843	1.955	0.53005	D	0.99996	P	0.43909	0.821	P	0.48189	0.57	T	0.01460	-1.1349	10	0.59425	D	0.04	-12.2273	19.661	0.95871	0.0:0.0:1.0:0.0	.	503	Q9GZR7	DDX24_HUMAN	M	503;253;448;129;460;460	ENSP00000328690:T503M;ENSP00000440623:T253M;ENSP00000452145:T460M	ENSP00000328690:T503M	T	-	2	0	DDX24	93596602	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	5.253000	0.65452	2.714000	0.92807	0.563000	0.77884	ACG		0.478	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414	
PPP4R4	57718	broad.mit.edu	37	14	94708199	94708199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94708199G>T	ENST00000304338.3	+	10	1205	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	351					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.E351*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTGCAACAAGAAAATGGACA	0.343																																					p.E351X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1051T	14						.						65.0	68.0	67.0					14																	94708199		2203	4300	6503	93777952	SO:0001587	stop_gained	57718	exon10			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1051G>T	14.37:g.94708199G>T	ENSP00000305924:p.Glu351*		93777952	NM_058237	Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	38	6.945591	0.97956	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.25	5.25	0.73442	.	0.983803	0.08329	N	0.962693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-21.2123	18.8186	0.92088	0.0:0.0:1.0:0.0	.	.	.	.	X	351	.	ENSP00000305924:E351X	E	+	1	0	PPP4R4	93777952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.605000	0.82844	2.452000	0.82932	0.591000	0.81541	GAA		0.343	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94716569	94716569	+	Missense_Mutation	SNP	C	C	T	rs201499500		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94716569C>T	ENST00000304338.3	+	15	1826	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	558					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.R558C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GCGTTATAATCGTAAACAAGA	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		18686	0.0		0.001	False		,,,				2504	0.0				p.R558C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1672T	14						.	C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	133.0	118.0	123.0		1672	5.7	1.0	14	dbSNP_134	123	0,8600		0,0,4300	yes	missense	PPP4R4	NM_058237.1	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	558/874	94716569	2,13004	2203	4300	6503	93786322	SO:0001583	missense	57718	exon15			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1672C>T	14.37:g.94716569C>T	ENSP00000305924:p.Arg558Cys		93786322	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	25.3	4.629145	0.87560	4.54E-4	0.0	ENSG00000119698	ENST00000304338	T	0.32988	1.43	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.049066	0.85682	D	0.000000	T	0.57725	0.2073	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.58205	-0.7677	10	0.66056	D	0.02	-11.8211	19.8403	0.96679	0.0:1.0:0.0:0.0	.	558	Q6NUP7	PP4R4_HUMAN	C	558	ENSP00000305924:R558C	ENSP00000305924:R558C	R	+	1	0	PPP4R4	93786322	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.684000	0.74538	2.692000	0.91855	0.455000	0.32223	CGT		0.343	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA1	5265	broad.mit.edu	37	14	94849283	94849283	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94849283C>T	ENST00000448921.1	-	4	864	c.292G>A	c.(292-294)Gat>Aat	p.D98N	SERPINA1_ENST00000393087.4_Missense_Mutation_p.D98N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.D98N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.D98N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.D98N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D98N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D98N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D98N|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D98N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	98					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D98N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGGATTTCATCGTGAGTGTCA	0.552																																					p.D98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	14						.						91.0	86.0	88.0					14																	94849283		2203	4300	6503	93919036	SO:0001583	missense	5265	exon3			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.292G>A	14.37:g.94849283C>T	ENSP00000416066:p.Asp98Asn		93919036	NM_001127702	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	c	9.002	0.980372	0.18812	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720;ENST00000556091;ENST00000557492;ENST00000556955	D;D;D;D;D;D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.8	0.242	0.15498	Serpin domain (3);	0.768931	0.12004	N	0.508523	T	0.75184	0.3815	L	0.41027	1.25	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.003	T	0.60475	-0.7256	10	0.37606	T	0.19	.	5.2807	0.15674	0.2066:0.2495:0.0:0.5439	.	98;98	P01009-2;P01009	.;A1AT_HUMAN	N	98;98;98;98;98;98;98;98;98;12;98;98;98	ENSP00000390299:D98N;ENSP00000416066:D98N;ENSP00000408474:D98N;ENSP00000348068:D98N;ENSP00000376802:D98N;ENSP00000376803:D98N;ENSP00000385960:D98N;ENSP00000416354:D98N;ENSP00000386094:D98N;ENSP00000450561:D12N;ENSP00000452169:D98N;ENSP00000452452:D98N;ENSP00000451098:D98N	ENSP00000348068:D98N	D	-	1	0	SERPINA1	93919036	0.000000	0.05858	0.032000	0.17829	0.111000	0.19643	-2.322000	0.01118	0.106000	0.17784	-0.405000	0.06341	GAT		0.552	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
SERPINA11	256394	broad.mit.edu	37	14	94909507	94909507	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94909507C>A	ENST00000334708.3	-	4	1037	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	325					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D507Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGAAGTATGTCTTCCAGGTTA	0.423																																					p.D325Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973T	14						.						115.0	109.0	111.0					14																	94909507		2203	4300	6503	93979260	SO:0001583	missense	256394	exon4			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.973G>T	14.37:g.94909507C>A	ENSP00000335024:p.Asp325Tyr		93979260	NM_001080451	B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710122	0.48517	.	.	ENSG00000186910	ENST00000334708	D	0.88896	-2.44	6.04	5.14	0.70334	Serpin domain (3);	0.434725	0.21362	N	0.075787	D	0.92658	0.7667	M	0.80847	2.515	0.33681	D	0.612173	P	0.44659	0.84	P	0.57009	0.811	D	0.95137	0.8260	10	0.72032	D	0.01	.	8.6654	0.34118	0.0:0.7477:0.1522:0.1001	.	325	Q86U17	SPA11_HUMAN	Y	325	ENSP00000335024:D325Y	ENSP00000335024:D325Y	D	-	1	0	SERPINA11	93979260	0.959000	0.32827	0.998000	0.56505	0.356000	0.29392	2.503000	0.45407	1.527000	0.49086	0.563000	0.77884	GAC		0.423	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
SERPINA12	145264	broad.mit.edu	37	14	94955986	94955986	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:94955986C>T	ENST00000341228.2	-	5	1819	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A342T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	342					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A342T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CGATGAGGGGCGATCTTGGTG	0.592																																					p.A342T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	14						.																																			94025739	SO:0001583	missense	145264	exon5			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1024G>A	14.37:g.94955986C>T	ENSP00000342109:p.Ala342Thr		94025739	NM_173850		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.663149	0.00772	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.83837	-1.77;-1.77	5.16	-4.27	0.03744	Serpin domain (3);	0.846665	0.10446	N	0.673698	T	0.48822	0.1521	N	0.01640	-0.785	0.09310	N	1	B	0.22276	0.067	B	0.12837	0.008	T	0.54296	-0.8315	10	0.02654	T	1	.	7.2237	0.26003	0.2082:0.4868:0.0:0.305	.	342	Q8IW75	SPA12_HUMAN	T	342	ENSP00000451738:A342T;ENSP00000342109:A342T	ENSP00000342109:A342T	A	-	1	0	SERPINA12	94025739	0.037000	0.19845	0.060000	0.19600	0.057000	0.15508	-0.420000	0.07062	-0.232000	0.09811	-0.410000	0.06199	GCC		0.592	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
SERPINA4	5267	broad.mit.edu	37	14	95033448	95033448	+	Nonsense_Mutation	SNP	C	C	A	rs13306799	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95033448C>A	ENST00000557004.1	+	3	1212	c.791C>A	c.(790-792)tCg>tAg	p.S264*	SERPINA4_ENST00000555095.1_Nonsense_Mutation_p.S264*|SERPINA4_ENST00000298841.5_Nonsense_Mutation_p.S264*|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	264					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S264*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTGCCCTGCTCGGTGCTACGG	0.483																																					p.S264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C791A	14						.						113.0	98.0	103.0					14																	95033448		2203	4300	6503	94103201	SO:0001587	stop_gained	5267	exon3			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.791C>A	14.37:g.95033448C>A	ENSP00000450838:p.Ser264*		94103201	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Nonsense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	30	5.057188	0.93846	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	.	.	.	4.56	1.45	0.22620	.	0.301071	0.21998	N	0.066044	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	6.1145	0.20120	0.1152:0.6133:0.1866:0.085	.	.	.	.	X	264	.	ENSP00000298841:S264X	S	+	2	0	SERPINA4	94103201	0.000000	0.05858	0.059000	0.19551	0.163000	0.22366	-0.420000	0.07062	0.445000	0.26639	0.561000	0.74099	TCG		0.483	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SERPINA4	5267	broad.mit.edu	37	14	95034505	95034505	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95034505C>A	ENST00000557004.1	+	4	1384	c.963C>A	c.(961-963)ttC>ttA	p.F321L	SERPINA4_ENST00000555095.1_Missense_Mutation_p.F321L|SERPINA4_ENST00000298841.5_Missense_Mutation_p.F321L|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	321					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F321L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCCCAAGTTCTCCATTTCTG	0.463																																					p.F321L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C963A	14						.						128.0	129.0	129.0					14																	95034505		2203	4300	6503	94104258	SO:0001583	missense	5267	exon4			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.963C>A	14.37:g.95034505C>A	ENSP00000450838:p.Phe321Leu		94104258	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	C	9.454	1.091233	0.20471	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.88201	-2.35;-2.35;-2.35	5.45	-0.326	0.12698	Serpin domain (3);	0.000000	0.64402	D	0.000016	D	0.89413	0.6708	M	0.63843	1.955	0.80722	D	1	D;P	0.63880	0.993;0.838	D;P	0.67382	0.951;0.576	D	0.84193	0.0446	10	0.22706	T	0.39	.	4.6011	0.12354	0.0:0.2783:0.1777:0.5439	.	321;321	B2R815;P29622	.;KAIN_HUMAN	L	321	ENSP00000450838:F321L;ENSP00000451172:F321L;ENSP00000298841:F321L	ENSP00000298841:F321L	F	+	3	2	SERPINA4	94104258	0.053000	0.20554	1.000000	0.80357	0.847000	0.48162	-0.461000	0.06712	0.289000	0.22422	0.655000	0.94253	TTC		0.463	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SERPINA3	12	broad.mit.edu	37	14	95088716	95088716	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95088716C>T	ENST00000467132.1	+	4	2104	c.956C>T	c.(955-957)tCg>tTg	p.S319L	SERPINA3_ENST00000393080.4_Missense_Mutation_p.S319L|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S101L|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S319L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	319					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S319L(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTTTCCATCTCGAGGGACTAT	0.498																																					p.S319L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C956T	14						.						134.0	123.0	127.0					14																	95088716		2203	4300	6503	94158469	SO:0001583	missense	12	exon4			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.956C>T	14.37:g.95088716C>T	ENSP00000450540:p.Ser319Leu		94158469	NM_001085	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628758	0.46944	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.6	4.6	0.57074	Serpin domain (3);	0.356831	0.24642	N	0.036788	D	0.95796	0.8632	M	0.93594	3.435	0.40033	D	0.975555	D;D	0.89917	1.0;0.994	D;P	0.76071	0.987;0.569	D	0.97274	0.9913	10	0.87932	D	0	.	16.1584	0.81681	0.0:1.0:0.0:0.0	.	319;344	P01011;G3V5I3	AACT_HUMAN;.	L	344;319;319;319;101	ENSP00000452367:S344L;ENSP00000376793:S319L;ENSP00000376795:S319L;ENSP00000450540:S319L;ENSP00000451119:S101L	ENSP00000376793:S319L	S	+	2	0	SERPINA3	94158469	0.743000	0.28239	0.937000	0.37676	0.020000	0.10135	2.164000	0.42387	2.381000	0.81170	0.462000	0.41574	TCG		0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
CLMN	79789	broad.mit.edu	37	14	95670249	95670249	+	Silent	SNP	C	C	T	rs576493570|rs201041933	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95670249C>T	ENST00000298912.4	-	9	1550	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	479					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S479S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTGGAATCTTCGAGGATTCCT	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19499	0.0		0.0	False		,,,				2504	0.0				p.S479S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1437A	14						.	C		0,4406		0,0,2203	67.0	66.0	66.0		1437	-11.0	0.0	14		66	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CLMN	NM_024734.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		479/1003	95670249	3,13003	2203	4300	6503	94740002	SO:0001819	synonymous_variant	79789	exon9			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1437G>A	14.37:g.95670249C>T			94740002	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	CCDS9933.1																																																																																				0.463	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
CLMN	79789	broad.mit.edu	37	14	95670573	95670573	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95670573C>T	ENST00000298912.4	-	9	1226	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	371					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.A371A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGTCTGACAGCGCATGGCTGG	0.542																																					p.A371A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1113A	14						.						122.0	120.0	121.0					14																	95670573		2203	4300	6503	94740326	SO:0001819	synonymous_variant	79789	exon9			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1113G>A	14.37:g.95670573C>T			94740326	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	CCDS9933.1																																																																																				0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
CLMN	79789	broad.mit.edu	37	14	95670764	95670764	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95670764C>T	ENST00000298912.4	-	9	1035	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	308					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E308K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAAGTGGATTCGATAGGAACT	0.348																																					p.E308K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	14						.						70.0	75.0	73.0					14																	95670764		2201	4300	6501	94740517	SO:0001583	missense	79789	exon9			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.922G>A	14.37:g.95670764C>T	ENSP00000298912:p.Glu308Lys		94740517	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519167	0.64634	.	.	ENSG00000165959	ENST00000298912	D	0.92965	-3.14	5.64	5.64	0.86602	.	0.000000	0.42053	D	0.000767	D	0.95284	0.8470	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.94534	0.7739	10	0.46703	T	0.11	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	308	Q96JQ2	CLMN_HUMAN	K	308	ENSP00000298912:E308K	ENSP00000298912:E308K	E	-	1	0	CLMN	94740517	0.999000	0.42202	0.457000	0.27056	0.116000	0.19942	5.251000	0.65438	2.664000	0.90586	0.655000	0.94253	GAA		0.348	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
TCL1A	8115	broad.mit.edu	37	14	96178596	96178596	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96178596G>T	ENST00000402399.1	-	2	387	c.258C>A	c.(256-258)tcC>tcA	p.S86S	TCL1A_ENST00000556450.1_Silent_p.S86S|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Silent_p.S86S|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Silent_p.S86S	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	86					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)		p.S86S(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGGAGTCTGAGGATCGGTATC	0.572			T	TRA@	T-CLL																																p.S86S	Ovarian(96;1068 2019 35393 39316)		Dom	yes		14	14q32.1	8115	T-cell leukemia/lymphoma 1A		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258A	14						.						169.0	156.0	161.0					14																	96178596		2203	4300	6503	95248349	SO:0001819	synonymous_variant	8115	exon2			X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.258C>A	14.37:g.96178596G>T			95248349	NM_021966	Q6IBK7	Silent	SNP	ENST00000402399.1	37	CCDS9941.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716497	0.15306	.	.	ENSG00000100721	ENST00000557043	.	.	.	3.61	2.68	0.31781	.	.	.	.	.	T	0.35451	0.0932	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.20605	-1.0270	4	.	.	.	-7.3554	8.3157	0.32100	0.0:0.0:0.7651:0.2349	.	.	.	.	I	61	.	.	L	-	1	0	TCL1A	95248349	0.000000	0.05858	0.002000	0.10522	0.377000	0.30045	0.526000	0.22971	1.058000	0.40530	0.462000	0.41574	CTC		0.572	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1		
BDKRB2	624	broad.mit.edu	37	14	96703475	96703475	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96703475C>A	ENST00000306005.3	+	2	227	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000554311.1_Missense_Mutation_p.L11M|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.L11M|BDKRB2_ENST00000542454.2_5'UTR	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	11					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.L11M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	ATCAATGTTTCTGTCTGTTCG	0.522																																					p.L11M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31A	14						.						216.0	172.0	187.0					14																	96703475		2203	4300	6503	95773228	SO:0001583	missense	624	exon2			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.31C>A	14.37:g.96703475C>A	ENSP00000307713:p.Leu11Met		95773228	NM_000623		Missense_Mutation	SNP	ENST00000306005.3	37	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	C	8.555	0.876353	0.17395	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.72942	-0.7;-0.7;1.09	3.71	-1.54	0.08584	.	2.102490	0.02714	N	0.113208	T	0.51635	0.1686	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	B	0.43575	0.424	T	0.49341	-0.8950	10	0.51188	T	0.08	.	5.8483	0.18679	0.0:0.3239:0.4787:0.1974	.	11	P30411	BKRB2_HUMAN	M	11	ENSP00000450482:L11M;ENSP00000307713:L11M;ENSP00000450984:L11M	ENSP00000307713:L11M	L	+	1	2	RP11-404P21.8;BDKRB2	95773228	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.622000	0.05553	-0.310000	0.08766	-0.819000	0.03115	CTG		0.522	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1		
BDKRB2	624	broad.mit.edu	37	14	96707028	96707028	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96707028C>T	ENST00000306005.3	+	3	559	c.363C>T	c.(361-363)ttC>ttT	p.F121F	BDKRB2_ENST00000539359.1_Silent_p.F94F|BDKRB2_ENST00000554311.1_Silent_p.F121F|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000542454.2_Silent_p.F94F	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	121					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)	p.F121F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CCAACAACTTCGACTGGCTCT	0.592																																					p.F121F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363T	14						.						138.0	139.0	139.0					14																	96707028		2203	4300	6503	95776781	SO:0001819	synonymous_variant	624	exon3			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.363C>T	14.37:g.96707028C>T			95776781	NM_000623		Silent	SNP	ENST00000306005.3	37	CCDS9942.1																																																																																				0.592	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1		
ATG2B	55102	broad.mit.edu	37	14	96761432	96761432	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96761432A>C	ENST00000359933.4	-	36	6184	c.5291T>G	c.(5290-5292)cTg>cGg	p.L1764R	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1764					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.L1764R(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAAATAACCAGATTTGGCTC	0.418																																					p.L1764R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5291G	14						.						88.0	84.0	85.0					14																	96761432		2203	4300	6503	95831185	SO:0001583	missense	55102	exon36			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5291T>G	14.37:g.96761432A>C	ENSP00000353010:p.Leu1764Arg		95831185	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993628	0.54041	.	.	ENSG00000066739	ENST00000359933	T	0.09445	2.98	5.52	4.37	0.52481	.	0.463200	0.21277	N	0.077208	T	0.06280	0.0162	L	0.29908	0.895	0.33160	D	0.54683	B	0.33448	0.412	B	0.30855	0.121	T	0.15037	-1.0451	10	0.16420	T	0.52	.	4.6728	0.12698	0.7325:0.0:0.2675:0.0	.	1764	Q96BY7	ATG2B_HUMAN	R	1764	ENSP00000353010:L1764R	ENSP00000261834:L408R	L	-	2	0	ATG2B	95831185	1.000000	0.71417	0.269000	0.24586	0.994000	0.84299	5.031000	0.64134	2.225000	0.72522	0.459000	0.35465	CTG		0.418	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
ATG2B	55102	broad.mit.edu	37	14	96798893	96798893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96798893G>T	ENST00000359933.4	-	9	2200	c.1307C>A	c.(1306-1308)tCa>tAa	p.S436*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	436					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S436*(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACTAGTTAATGATAACTCAAG	0.403																																					p.S436X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1307A	14						.						124.0	123.0	123.0					14																	96798893		1822	4070	5892	95868646	SO:0001587	stop_gained	55102	exon9			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1307C>A	14.37:g.96798893G>T	ENSP00000353010:p.Ser436*		95868646	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	47	13.619558	0.99753	.	.	ENSG00000066739	ENST00000359933	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	436	.	ENSP00000353010:S436X	S	-	2	0	ATG2B	95868646	1.000000	0.71417	0.248000	0.24265	0.996000	0.88848	9.165000	0.94761	2.882000	0.98803	0.655000	0.94253	TCA		0.403	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
GSKIP	51527	broad.mit.edu	37	14	96851890	96851890	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96851890G>T	ENST00000556095.1	+	4	2101	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	GSKIP_ENST00000555181.1_Missense_Mutation_p.D97Y|GSKIP_ENST00000554182.1_Missense_Mutation_p.D97Y|GSKIP_ENST00000438650.1_Missense_Mutation_p.D97Y|RNU2-33P_ENST00000410344.1_RNA	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	97						cytoplasm (GO:0005737)		p.D97Y(1)									CCAGGTAGATGATCATTTACA	0.423																																					p.D97Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289T	14						.						167.0	148.0	155.0					14																	96851890		2203	4300	6503	95921643	SO:0001583	missense	51527	exon3			AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.289G>T	14.37:g.96851890G>T	ENSP00000451188:p.Asp97Tyr		95921643	NM_016472	B3KSZ0|Q9BST1|Q9NWK0	Missense_Mutation	SNP	ENST00000556095.1	37	CCDS32153.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235797	0.79800	.	.	ENSG00000100744	ENST00000555181;ENST00000554182;ENST00000556095;ENST00000438650;ENST00000555757	.	.	.	5.54	5.54	0.83059	GSKIP/TIF31 domain (1);	0.202488	0.51477	D	0.000098	T	0.75064	0.3799	L	0.55481	1.735	0.80722	D	1	P	0.42161	0.772	P	0.57425	0.82	T	0.75068	-0.3448	9	0.62326	D	0.03	-26.039	19.4733	0.94973	0.0:0.0:1.0:0.0	.	97	Q9P0R6	GSKIP_HUMAN	Y	97	.	ENSP00000412315:D97Y	D	+	1	0	C14orf129	95921643	1.000000	0.71417	0.189000	0.23252	0.973000	0.67179	6.362000	0.73077	2.609000	0.88269	0.655000	0.94253	GAT		0.423	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472	
PAPOLA	10914	broad.mit.edu	37	14	96986482	96986482	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:96986482G>T	ENST00000216277.8	+	2	319	c.99G>T	c.(97-99)gaG>gaT	p.E33D	PAPOLA_ENST00000557320.1_Missense_Mutation_p.E33D|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.E33D|PAPOLA_ENST00000557471.1_Missense_Mutation_p.E33D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	33					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.E33D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCCCCAAGGAGACTGACTGCG	0.433																																					p.E33D	NSCLC(19;254 734 11908 35501 39234)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	14						.						130.0	113.0	119.0					14																	96986482		2203	4300	6503	96056235	SO:0001583	missense	10914	exon2			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.99G>T	14.37:g.96986482G>T	ENSP00000216277:p.Glu33Asp		96056235	NM_032632	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278791	0.40294	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.94	4.94	0.65067	Poly(A) polymerase, central domain (1);	0.175194	0.49305	N	0.000160	T	0.51007	0.1649	L	0.35854	1.095	0.45056	D	0.998078	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.004;0.004;0.001;0.003	T	0.44221	-0.9342	9	0.27082	T	0.32	.	13.5008	0.61454	0.0:0.0:0.8438:0.1562	.	49;49;33;33;49	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	D	33;33;49;33;33;33	.	ENSP00000216277:E33D	E	+	3	2	PAPOLA	96056235	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.612000	0.46343	2.455000	0.83008	0.650000	0.86243	GAG		0.433	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
VRK1	7443	broad.mit.edu	37	14	97322574	97322574	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:97322574G>T	ENST00000216639.3	+	9	966	c.817G>T	c.(817-819)Gat>Tat	p.D273Y		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D273Y(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		ATATGTTAGAGATTCCAAAAT	0.328																																					p.D273Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817T	14						.						85.0	86.0	86.0					14																	97322574		2203	4300	6503	96392327	SO:0001583	missense	7443	exon9			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.817G>T	14.37:g.97322574G>T	ENSP00000216639:p.Asp273Tyr		96392327	NM_003384	Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	CCDS9947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.936206|3.936206	0.73442|0.73442	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000216639|ENST00000557222;ENST00000557352	T|T;T	0.63913|0.66280	-0.07|-0.2;2.1	5.96|5.96	5.07|5.07	0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.090395|.	0.85682|.	D|.	0.000000|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.31476|0.31476	0.935|0.935	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.50934|.	0.654|.	T|T	0.52741|0.52741	-0.8535|-0.8535	10|6	0.25106|.	T|.	0.35|.	-12.8922|-12.8922	10.7606|10.7606	0.46261|0.46261	0.0682:0.132:0.7998:0.0|0.0682:0.132:0.7998:0.0	.|.	273|.	Q99986|.	VRK1_HUMAN|.	Y|I	273|129;54	ENSP00000216639:D273Y|ENSP00000450820:R129I;ENSP00000451682:R54I	ENSP00000216639:D273Y|.	D|R	+|+	1|2	0|0	VRK1|VRK1	96392327|96392327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	4.887000|4.887000	0.63156|0.63156	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384	
SETD3	84193	broad.mit.edu	37	14	99927567	99927567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:99927567C>A	ENST00000331768.5	-	4	466	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	SETD3_ENST00000329331.3_Nonsense_Mutation_p.E103*|SETD3_ENST00000436070.2_Nonsense_Mutation_p.E103*|SETD3_ENST00000453938.1_Intron	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	103	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.E103*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAGCCCTCTTCTTTGAAGTTA	0.398																																					p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	14						.						119.0	121.0	120.0					14																	99927567		2203	4300	6503	98997320	SO:0001587	stop_gained	84193	exon4			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.307G>T	14.37:g.99927567C>A	ENSP00000327436:p.Glu103*		98997320	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Nonsense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341539	0.97489	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	.	.	.	5.45	5.45	0.79879	.	0.110848	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-14.1669	19.6632	0.95882	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000327910:E103X	E	-	1	0	SETD3	98997320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.671000	0.61590	2.716000	0.92895	0.655000	0.94253	GAA		0.398	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
EML1	2009	broad.mit.edu	37	14	100331887	100331887	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100331887C>T	ENST00000262233.6	+	3	426	c.287C>T	c.(286-288)aCg>aTg	p.T96M	EML1_ENST00000327921.9_Missense_Mutation_p.T65M|EML1_ENST00000334192.4_Missense_Mutation_p.T96M|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	96					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.T96M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTAAGAACCACGGTCAACAAT	0.468																																					p.T96M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	14						.						98.0	89.0	92.0					14																	100331887		2203	4300	6503	99401640	SO:0001583	missense	2009	exon3			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.287C>T	14.37:g.100331887C>T	ENSP00000262233:p.Thr96Met		99401640	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799547	0.90538	.	.	ENSG00000066629	ENST00000554479;ENST00000555145;ENST00000327921;ENST00000556199;ENST00000556835;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714;ENST00000553720;ENST00000556947	T;T;T;T;T	0.33438	2.81;1.69;1.65;1.68;1.41	5.31	5.31	0.75309	.	0.051703	0.85682	D	0.000000	T	0.47507	0.1449	L	0.47716	1.5	0.58432	D	0.999999	D;D;P;D;D	0.89917	0.996;0.994;0.646;1.0;1.0	P;P;B;P;P	0.60415	0.863;0.733;0.186;0.874;0.81	T	0.41875	-0.9484	10	0.56958	D	0.05	-11.9135	18.9668	0.92700	0.0:1.0:0.0:0.0	.	65;65;96;96;96	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	M	83;83;65;65;65;96;96;96;65;77;102	ENSP00000451346:T83M;ENSP00000327384:T65M;ENSP00000262233:T96M;ENSP00000334314:T96M;ENSP00000452089:T65M	ENSP00000262233:T96M	T	+	2	0	EML1	99401640	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	7.027000	0.76463	2.482000	0.83794	0.591000	0.81541	ACG		0.468	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
EML1	2009	broad.mit.edu	37	14	100363623	100363623	+	Silent	SNP	C	C	T	rs200809929		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100363623C>T	ENST00000262233.6	+	7	958	c.819C>T	c.(817-819)gaC>gaT	p.D273D	EML1_ENST00000327921.9_Silent_p.D261D|EML1_ENST00000334192.4_Silent_p.D292D	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	273	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.D292D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACAACGATGACGTGAAGTGGT	0.552																																					p.D292D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	14						.	C	,	0,4406		0,0,2203	122.0	94.0	103.0		876,819	2.1	1.0	14		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EML1	NM_001008707.1,NM_004434.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	292/835,273/816	100363623	1,13005	2203	4300	6503	99433376	SO:0001819	synonymous_variant	2009	exon8			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.819C>T	14.37:g.100363623C>T			99433376	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	CCDS32155.1																																																																																				0.552	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
EML1	2009	broad.mit.edu	37	14	100375814	100375814	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100375814G>A	ENST00000262233.6	+	11	1376	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	EML1_ENST00000327921.9_Missense_Mutation_p.E401K|EML1_ENST00000334192.4_Missense_Mutation_p.E432K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	413	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.E432K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGGATTATTCGAGGTAAAGTT	0.403																																					p.E432K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294A	14						.						113.0	116.0	115.0					14																	100375814		2203	4300	6503	99445567	SO:0001583	missense	2009	exon12			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1237G>A	14.37:g.100375814G>A	ENSP00000262233:p.Glu413Lys		99445567	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843439|4.843439	0.91197|0.91197	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138|ENST00000554386	T;T;T|.	0.39592|.	1.07;1.07;1.07|.	5.18|5.18	5.18|5.18	0.71444|0.71444	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83468|0.83468	0.5261|0.5261	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D;D;P;D;D|.	0.89917|.	1.0;1.0;0.907;1.0;1.0|.	D;D;B;D;D|.	0.85130|.	0.996;0.991;0.241;0.997;0.991|.	D|D	0.85839|0.85839	0.1396|0.1396	10|5	0.54805|.	T|.	0.06|.	-32.8693|-32.8693	18.7108|18.7108	0.91656|0.91656	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	401;401;413;432;432|.	F8W717;B7Z650;O00423;O00423-3;B3KXA3|.	.;.;EMAL1_HUMAN;.;.|.	K|Q	401;413;432;432|105	ENSP00000327384:E401K;ENSP00000262233:E413K;ENSP00000334314:E432K|.	ENSP00000262233:E413K|.	E|R	+|+	1|2	0|0	EML1|EML1	99445567|99445567	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.601000|0.601000	0.36947|0.36947	9.684000|9.684000	0.98659|0.98659	2.425000|2.425000	0.82216|0.82216	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.403	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
EML1	2009	broad.mit.edu	37	14	100376617	100376617	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100376617C>A	ENST00000262233.6	+	12	1417	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	EML1_ENST00000327921.9_Missense_Mutation_p.F414L|EML1_ENST00000334192.4_Missense_Mutation_p.F445L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	426	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.F445L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTGTGACTTTCTCTGAAAACG	0.328																																					p.F445L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1335A	14						.						100.0	97.0	98.0					14																	100376617		2203	4300	6503	99446370	SO:0001583	missense	2009	exon13			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1278C>A	14.37:g.100376617C>A	ENSP00000262233:p.Phe426Leu		99446370	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.247126|4.247126	0.80024|0.80024	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138|ENST00000554386	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	5.24|5.24	-0.0777|-0.0777	0.13717|0.13717	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74520|0.74520	0.3727|0.3727	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.76494|.	0.996;0.882;0.999;0.994|.	D;P;D;D|.	0.80764|.	0.99;0.596;0.994;0.977|.	T|T	0.74009|0.74009	-0.3802|-0.3802	10|5	0.87932|.	D|.	0|.	-20.6033|-20.6033	9.1326|9.1326	0.36854|0.36854	0.0:0.329:0.0:0.671|0.0:0.329:0.0:0.671	.|.	414;426;445;445|.	F8W717;O00423;O00423-3;B3KXA3|.	.;EMAL1_HUMAN;.;.|.	L|I	414;426;445;445|119	ENSP00000327384:F414L;ENSP00000262233:F426L;ENSP00000334314:F445L|.	ENSP00000262233:F426L|.	F|L	+|+	3|1	2|0	EML1|EML1	99446370|99446370	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	1.396000|1.396000	0.34531|0.34531	0.003000|0.003000	0.14656|0.14656	-0.302000|-0.302000	0.09304|0.09304	TTC|CTC		0.328	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
YY1	7528	broad.mit.edu	37	14	100742864	100742864	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100742864G>T	ENST00000262238.4	+	4	1201	c.941G>T	c.(940-942)aGa>aTa	p.R314I		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	314	Binding to DNA.|Involved in nuclear matrix association.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R314I(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TCGGCCATGAGAAAACATCTG	0.438																																					p.R314I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G941T	14						.						92.0	87.0	88.0					14																	100742864		2203	4300	6503	99812617	SO:0001583	missense	7528	exon4			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.941G>T	14.37:g.100742864G>T	ENSP00000262238:p.Arg314Ile		99812617	NM_003403	Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395858	0.96009	.	.	ENSG00000100811	ENST00000262238	T	0.12672	2.66	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.31857	0.0810	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00405	-1.1760	10	0.46703	T	0.11	.	20.0344	0.97551	0.0:0.0:1.0:0.0	.	314	P25490	TYY1_HUMAN	I	314	ENSP00000262238:R314I	ENSP00000262238:R314I	R	+	2	0	YY1	99812617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.717000	0.98755	2.803000	0.96430	0.650000	0.86243	AGA		0.438	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403	
WDR25	79446	broad.mit.edu	37	14	100847678	100847678	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:100847678C>A	ENST00000335290.6	+	2	643	c.417C>A	c.(415-417)ctC>ctA	p.L139L	WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Silent_p.L139L|WDR25_ENST00000554998.1_Silent_p.L139L|WDR25_ENST00000554175.1_Silent_p.L139L	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	139								p.L139L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAGTAAAACTCTCCAGGAACT	0.483																																					p.L139L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417A	14						.						67.0	74.0	72.0					14																	100847678		2203	4300	6503	99917431	SO:0001819	synonymous_variant	79446	exon2			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.417C>A	14.37:g.100847678C>A			99917431	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	CCDS32157.1																																																																																				0.483	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515	
GPR132	29933	broad.mit.edu	37	14	105517709	105517709	+	Silent	SNP	G	G	A	rs201367136	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:105517709G>A	ENST00000329797.3	-	4	1676	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GPR132_ENST00000392585.2_Silent_p.F246F|GPR132_ENST00000546679.1_5'Flank|GPR132_ENST00000539291.2_Silent_p.F255F	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	255					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F255F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGTACGGGGCGAAGCAGACTA	0.567													G|||	3	0.000599042	0.0015	0.0	5008	,	,		21734	0.0		0.001	False		,,,				2504	0.0				p.F255F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C765T	14						.	G		2,4404	4.2+/-10.8	0,2,2201	113.0	112.0	113.0		765	-1.3	0.2	14		113	0,8600		0,0,4300	no	coding-synonymous	GPR132	NM_013345.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		255/381	105517709	2,13004	2203	4300	6503	104588754	SO:0001819	synonymous_variant	29933	exon4			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.765C>T	14.37:g.105517709G>A			104588754	NM_013345	A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	CCDS9997.1																																																																																				0.567	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
ZNF280A	129025	broad.mit.edu	37	22	22868699	22868699	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:22868699delT	ENST00000302097.3	-	2	1508	c.1256delA	c.(1255-1257)aacfs	p.N419fs		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	419					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.N419fs*21(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATTCTTTGTGTTTTCATGGCA	0.433																																					p.N419fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1256delA	22						.						121.0	109.0	113.0					22																	22868699		2203	4300	6503	21198699	SO:0001589	frameshift_variant	129025	exon2			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1256delA	22.37:g.22868699delT	ENSP00000302855:p.Asn419fs		21198699	NM_080740		Frame_Shift_Del	DEL	ENST00000302097.3	37	CCDS13800.1																																																																																				0.433	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
XKR3	150165	broad.mit.edu	37	22	17264659	17264659	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:17264659T>G	ENST00000331428.5	-	4	1332	c.1230A>C	c.(1228-1230)ccA>ccC	p.P410P		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	410						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P410P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTACGTCCTGGCAACACTT	0.423																																					p.P410P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1230C	22						.						5.0	5.0	5.0					22																	17264659		403	1263	1666	15644659	SO:0001819	synonymous_variant	150165	exon4			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.1230A>C	22.37:g.17264659T>G			15644659	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	ENST00000331428.5	37	CCDS42975.1																																																																																				0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
XKR3	150165	broad.mit.edu	37	22	17288683	17288683	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:17288683C>A	ENST00000331428.5	-	2	383	c.281G>T	c.(280-282)aGa>aTa	p.R94I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R94I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCCTTATTTCTCCTCAAGTC	0.358																																					p.R94I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281T	22						.						91.0	87.0	88.0					22																	17288683		1842	4087	5929	15668683	SO:0001583	missense	150165	exon2			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.281G>T	22.37:g.17288683C>A	ENSP00000331704:p.Arg94Ile		15668683	NM_175878	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.855656	0.32791	.	.	ENSG00000172967	ENST00000331428	T	0.64438	-0.1	0.473	0.473	0.16763	.	0.153277	0.37809	U	0.001938	T	0.50360	0.1611	L	0.41492	1.28	0.19575	N	0.999966	D	0.59357	0.985	P	0.45577	0.486	T	0.47484	-0.9114	10	0.62326	D	0.03	.	6.8307	0.23909	0.0:0.9998:0.0:2.0E-4	.	94	Q5GH77	XKR3_HUMAN	I	94	ENSP00000331704:R94I	ENSP00000331704:R94I	R	-	2	0	XKR3	15668683	0.697000	0.27767	0.023000	0.16930	0.102000	0.19082	1.225000	0.32551	0.524000	0.28502	0.134000	0.15878	AGA		0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878	
CECR1	51816	broad.mit.edu	37	22	17670853	17670853	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:17670853C>T	ENST00000399839.1	-	6	1221	c.951G>A	c.(949-951)acG>acA	p.T317T	CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000262607.3_Silent_p.T317T|CECR1_ENST00000399837.2_Silent_p.T317T|CECR1_ENST00000330232.4_Silent_p.T76T|CECR1_ENST00000449907.2_Silent_p.T275T	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	317					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.T317T(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTGCCACCACCGTGGGGAACT	0.577																																					p.T76T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G228A	22						.						145.0	113.0	124.0					22																	17670853		2203	4300	6503	16050853	SO:0001819	synonymous_variant	51816	exon3			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.951G>A	22.37:g.17670853C>T			16050853	NM_177405	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	CCDS13742.1																																																																																				0.577	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1		
CECR2	27443	broad.mit.edu	37	22	17976597	17976597	+	Silent	SNP	C	C	T	rs546492180		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:17976597C>T	ENST00000400573.5	+	3	325	c.318C>T	c.(316-318)gaC>gaT	p.D106D	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000262608.8_Silent_p.D87D|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Silent_p.D86D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	128					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.D106D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGATGCAGACGATGTCTTCG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		19219	0.0		0.001	False		,,,				2504	0.0				p.T87M												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C260T	22						.						100.0	102.0	102.0					22																	17976597		2024	4179	6203	16356597	SO:0001819	synonymous_variant	27443	exon2			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.318C>T	22.37:g.17976597C>T			16356597	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400573.5	37																																																																																					0.512	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413	
CECR2	27443	broad.mit.edu	37	22	18028174	18028174	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:18028174C>T	ENST00000400585.2	+	17	3143	c.2705C>T	c.(2704-2706)tCg>tTg	p.S902L	CECR2_ENST00000262608.8_Missense_Mutation_p.S1045L|CECR2_ENST00000400573.5_Missense_Mutation_p.S1044L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1086					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.S1044L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTTGTGGATCGGAGGGGAAG	0.622																																					p.R1045W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3133T	22						.						33.0	37.0	36.0					22																	18028174		2094	4224	6318	16408174	SO:0001583	missense	27443	exon16			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2705C>T	22.37:g.18028174C>T	ENSP00000383428:p.Ser902Leu		16408174	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	11.04	1.521077	0.27211	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.29917	1.67;1.67;1.55	4.26	4.26	0.50523	.	0.358748	0.20295	N	0.095145	T	0.27027	0.0662	L	0.60455	1.87	0.18873	N	0.999987	D;D;D	0.52996	0.957;0.957;0.957	B;B;B	0.33799	0.17;0.17;0.17	T	0.39522	-0.9610	10	0.59425	D	0.04	-12.4732	14.9759	0.71273	0.0:1.0:0.0:0.0	.	1086;902;1044	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	902;1044;1045	ENSP00000383428:S902L;ENSP00000383417:S1044L;ENSP00000262608:S1045L	ENSP00000262608:S1045L	S	+	2	0	CECR2	16408174	0.029000	0.19370	0.483000	0.27378	0.196000	0.23810	3.047000	0.49854	2.352000	0.79861	0.561000	0.74099	TCG		0.622	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
BCL2L13	23786	broad.mit.edu	37	22	18185121	18185121	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:18185121C>T	ENST00000317582.5	+	6	916	c.569C>T	c.(568-570)tCg>tTg	p.S190L	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000399782.1_Missense_Mutation_p.S190L|BCL2L13_ENST00000337612.5_Missense_Mutation_p.S28L|BCL2L13_ENST00000543133.1_Missense_Mutation_p.S28L|BCL2L13_ENST00000538149.1_Missense_Mutation_p.S66L|BCL2L13_ENST00000493680.1_Missense_Mutation_p.S190L|BCL2L13_ENST00000355028.3_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	190					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.S190L(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGGACTATTCGGCAGAGTAC	0.393																																					p.S190L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	22						.						105.0	97.0	100.0					22																	18185121		2203	4300	6503	16565121	SO:0001583	missense	23786	exon6			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.569C>T	22.37:g.18185121C>T	ENSP00000318883:p.Ser190Leu		16565121	NM_015367	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747535	0.49257	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612;ENST00000493680	T;T;T;T;T;T	0.03124	4.04;4.04;4.04;4.04;4.04;4.04	5.95	4.93	0.64822	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.528419	0.21221	N	0.078148	T	0.03220	0.0094	N	0.22421	0.69	0.09310	N	1	P;B;B	0.35944	0.529;0.386;0.052	B;B;B	0.29440	0.102;0.102;0.023	T	0.44528	-0.9322	10	0.31617	T	0.26	-3.0865	15.4096	0.74908	0.0:0.8618:0.1382:0.0	.	66;190;190	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	L	190;190;28;66;28;190	ENSP00000382682:S190L;ENSP00000318883:S190L;ENSP00000437667:S28L;ENSP00000441344:S66L;ENSP00000338932:S28L;ENSP00000434764:S190L	ENSP00000318883:S190L	S	+	2	0	BCL2L13	16565121	0.980000	0.34600	0.025000	0.17156	0.756000	0.42949	2.844000	0.48246	1.501000	0.48654	0.655000	0.94253	TCG		0.393	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367	
BID	637	broad.mit.edu	37	22	18220849	18220849	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:18220849G>T	ENST00000399774.3	-	5	679	c.510C>A	c.(508-510)gtC>gtA	p.V170V	BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Silent_p.V74V|BID_ENST00000551952.1_Silent_p.V170V|BID_ENST00000399767.1_Silent_p.V74V|BID_ENST00000317361.7_Silent_p.V216V|BID_ENST00000342111.5_3'UTR	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.V216V(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TTGTGTGAAAGACATCACGGA	0.532																																					p.V170V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510A	22						.						121.0	116.0	118.0					22																	18220849		2203	4300	6503	16600849	SO:0001819	synonymous_variant	637	exon5			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.510C>A	22.37:g.18220849G>T			16600849	NM_001196	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Silent	SNP	ENST00000399774.3	37	CCDS13748.1																																																																																				0.532	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966	
PEX26	55670	broad.mit.edu	37	22	18562752	18562752	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:18562752A>C	ENST00000329627.7	+	3	549	c.343A>C	c.(343-345)Aag>Cag	p.K115Q	XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000399744.3_Missense_Mutation_p.K115Q|XXbac-B476C20.9_ENST00000426483.1_RNA|PEX26_ENST00000428061.2_Missense_Mutation_p.K115Q	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	115					protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.K115Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCCCTGAAAAGCTACCCCC	0.512																																					p.K115Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A343C	22						.						103.0	84.0	90.0					22																	18562752		2203	4300	6503	16942752	SO:0001583	missense	55670	exon3			AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.343A>C	22.37:g.18562752A>C	ENSP00000331106:p.Lys115Gln		16942752	NM_017929	F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Missense_Mutation	SNP	ENST00000329627.7	37	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281588	0.59758	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	D;D;D	0.94457	-3.43;-3.43;-3.43	5.44	4.34	0.51931	.	0.565422	0.16515	U	0.211067	D	0.92453	0.7604	M	0.71581	2.175	0.25218	N	0.989921	P;P	0.39535	0.627;0.677	B;B	0.37091	0.155;0.241	D	0.86860	0.2029	10	0.36615	T	0.2	-18.4396	10.7287	0.46083	0.7781:0.2219:0.0:0.0	.	115;115	F6UBB5;Q7Z412	.;PEX26_HUMAN	Q	115	ENSP00000331106:K115Q;ENSP00000382648:K115Q;ENSP00000412441:K115Q	ENSP00000331106:K115Q	K	+	1	0	PEX26	16942752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.437000	0.34991	2.193000	0.70182	0.402000	0.26972	AAG		0.512	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3	NM_017929	
CLTCL1	8218	broad.mit.edu	37	22	19175076	19175076	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19175076G>T	ENST00000263200.10	-	29	4671	c.4599C>A	c.(4597-4599)ctC>ctA	p.L1533L	CLTCL1_ENST00000427926.1_Silent_p.L1533L|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000353891.5_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1533	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.L1533L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAACCTTGTAGAGATGATCCT	0.552			T	?	ALCL																																p.L1533L			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4599A	22						.						97.0	106.0	103.0					22																	19175076		2062	4193	6255	17555076	SO:0001819	synonymous_variant	8218	exon29				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4599C>A	22.37:g.19175076G>T			17555076	NM_007098	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																				0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
CLTCL1	8218	broad.mit.edu	37	22	19217448	19217448	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19217448G>A	ENST00000263200.10	-	11	1767	c.1695C>T	c.(1693-1695)ttC>ttT	p.F565F	CLTCL1_ENST00000427926.1_Silent_p.F565F|CLTCL1_ENST00000353891.5_Silent_p.F565F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	565	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.F565F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CATCCAATAAGAAGGAAGTAC	0.428			T	?	ALCL																																p.F565F			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1695T	22						.						58.0	55.0	56.0					22																	19217448		1930	4150	6080	17597448	SO:0001819	synonymous_variant	8218	exon11				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1695C>T	22.37:g.19217448G>A			17597448	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	CCDS46662.1																																																																																				0.428	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
CLTCL1	8218	broad.mit.edu	37	22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.R481W(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATTTGCCCGAAGGTACACA	0.498			T	?	ALCL																																p.R481W			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1441T	22						.						143.0	140.0	141.0					22																	19220769		1960	4163	6123	17600769	SO:0001583	missense	8218	exon9				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1441C>T	22.37:g.19220769G>A	ENSP00000445677:p.Arg481Trp		17600769	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276926	0.59758	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.52295	0.67;0.67;0.67	3.92	2.89	0.33648	Armadillo-type fold (2);	0.000000	0.64402	D	0.000002	T	0.72724	0.3496	M	0.93106	3.38	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	D;D	0.74674	0.984;0.947	T	0.79072	-0.1953	10	0.87932	D	0	-21.811	11.9849	0.53142	0.0867:0.0:0.9133:0.0	.	481;481	P53675-2;P53675	.;CLH2_HUMAN	W	481	ENSP00000439662:R481W;ENSP00000445677:R481W;ENSP00000441158:R481W	ENSP00000445677:R481W	R	-	1	2	CLTCL1	17600769	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.512000	0.45485	0.982000	0.38575	0.591000	0.81541	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
HIRA	7290	broad.mit.edu	37	22	19340888	19340888	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19340888C>T	ENST00000263208.5	-	23	3095	c.2839G>A	c.(2839-2841)Gta>Ata	p.V947I	HIRA_ENST00000546308.1_3'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.V903I|HIRA_ENST00000340170.4_Missense_Mutation_p.V740I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	947	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V947I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTTCGTTTACGAGGTACCGT	0.597																																					p.V947I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2839A	22						.						75.0	51.0	59.0					22																	19340888		2203	4300	6503	17720888	SO:0001583	missense	7290	exon23			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2839G>A	22.37:g.19340888C>T	ENSP00000263208:p.Val947Ile		17720888	NM_003325	Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386606	0.82902	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600	T;T;T	0.71817	-0.32;-0.6;-0.45	4.94	4.94	0.65067	TUP1-like enhancer of split (1);	0.000000	0.85682	D	0.000000	T	0.81866	0.4913	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.79784	0.991;0.981;0.993	T	0.76990	-0.2754	10	0.12766	T	0.61	-16.3814	18.3537	0.90348	0.0:1.0:0.0:0.0	.	903;740;947	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	I	740;947;903;456	ENSP00000345350:V740I;ENSP00000263208:V947I;ENSP00000446073:V903I	ENSP00000263208:V947I	V	-	1	0	HIRA	17720888	1.000000	0.71417	0.839000	0.33178	0.590000	0.36582	7.076000	0.76806	2.577000	0.86979	0.563000	0.77884	GTA		0.597	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
UFD1L	7353	broad.mit.edu	37	22	19444434	19444434	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19444434A>C	ENST00000263202.10	-	8	701	c.572T>G	c.(571-573)tTt>tGt	p.F191C	UFD1L_ENST00000399523.1_Missense_Mutation_p.F191C|AC000068.10_ENST00000608816.1_RNA|AC000068.9_ENST00000607934.1_RNA|UFD1L_ENST00000360834.4_Missense_Mutation_p.F180C	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	191					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.F191C(1)		large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					gggagcatcaaagtccacctg	0.433																																					p.F191C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T572G	22						.						84.0	58.0	67.0					22																	19444434		2198	4297	6495	17824434	SO:0001583	missense	7353	exon8			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.572T>G	22.37:g.19444434A>C	ENSP00000263202:p.Phe191Cys		17824434	NM_005659	A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983204	0.74474	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86181	0.1606	10	0.87932	D	0	.	13.0648	0.59028	1.0:0.0:0.0:0.0	.	191;191	B4E3I3;Q92890	.;UFD1_HUMAN	C	191;180;191;227;95;180	ENSP00000263202:F191C;ENSP00000354079:F180C;ENSP00000382439:F191C;ENSP00000402136:F95C;ENSP00000406680:F180C	ENSP00000263202:F191C	F	-	2	0	UFD1L	17824434	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.882000	0.63121	2.153000	0.67306	0.533000	0.62120	TTT		0.433	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		
UFD1L	7353	broad.mit.edu	37	22	19445656	19445656	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19445656C>T	ENST00000263202.10	-	7	631	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	UFD1L_ENST00000399523.1_Missense_Mutation_p.E168K|AC000068.10_ENST00000608816.1_RNA|UFD1L_ENST00000360834.4_Missense_Mutation_p.E157K	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	168					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.E168K(1)		large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					ACACGCAGTTCGTAGATCTGT	0.537																																					p.E168K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	22						.						232.0	155.0	181.0					22																	19445656		2203	4300	6503	17825656	SO:0001583	missense	7353	exon7			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.502G>A	22.37:g.19445656C>T	ENSP00000263202:p.Glu168Lys		17825656	NM_005659	A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242912	0.95272	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000447868;ENST00000421968	T;T;T;D;D	0.96522	0.97;0.97;0.97;-4.04;-4.04	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.976	D	0.96788	0.9580	10	0.33141	T	0.24	.	18.0026	0.89202	0.0:1.0:0.0:0.0	.	168;168	B4E3I3;Q92890	.;UFD1_HUMAN	K	168;157;168;204;72;157	ENSP00000263202:E168K;ENSP00000354079:E157K;ENSP00000382439:E168K;ENSP00000402136:E72K;ENSP00000406680:E157K	ENSP00000263202:E168K	E	-	1	0	UFD1L	17825656	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.163000	0.77524	2.487000	0.83934	0.655000	0.94253	GAA		0.537	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		
UFD1L	7353	broad.mit.edu	37	22	19463072	19463072	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19463072G>T	ENST00000263202.10	-	2	186	c.57C>A	c.(55-57)ttC>ttA	p.F19L	UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.F19L|UFD1L_ENST00000360834.4_Missense_Mutation_p.F19L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	19					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.F19L(1)		large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					ACTGTGTGGAGAAGCGGTTTT	0.443																																					p.F19L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C57A	22						.						137.0	124.0	128.0					22																	19463072		2203	4300	6503	17843072	SO:0001583	missense	7353	exon2			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.57C>A	22.37:g.19463072G>T	ENSP00000263202:p.Phe19Leu		17843072	NM_005659	A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877510	0.91664	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.72	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	M	0.89658	3.05	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71192	-0.4665	10	0.72032	D	0.01	.	10.1998	0.43075	0.2289:0.0:0.7711:0.0	.	19;19	B4E3I3;Q92890	.;UFD1_HUMAN	L	19;19;19;19;19;14	ENSP00000263202:F19L;ENSP00000354079:F19L;ENSP00000382439:F19L;ENSP00000406680:F19L;ENSP00000418390:F14L	ENSP00000263202:F19L	F	-	3	2	UFD1L	17843072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.793000	0.55484	0.709000	0.31976	0.655000	0.94253	TTC		0.443	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6		
TXNRD2	10587	broad.mit.edu	37	22	19898902	19898902	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:19898902T>G	ENST00000400521.1	-	8	666	c.660A>C	c.(658-660)aaA>aaC	p.K220N	TXNRD2_ENST00000535882.1_Missense_Mutation_p.K219N|TXNRD2_ENST00000334363.9_Missense_Mutation_p.K220N|TXNRD2_ENST00000400518.1_Missense_Mutation_p.K190N|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Missense_Mutation_p.K190N|TXNRD2_ENST00000400519.1_Missense_Mutation_p.K219N	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	220					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K220N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGCCTTACGTTTTTCCAGGGG	0.527																																					p.K220N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A660C	22						.						87.0	93.0	91.0					22																	19898902		1983	4156	6139	18278902	SO:0001583	missense	10587	exon8			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.660A>C	22.37:g.19898902T>G	ENSP00000383365:p.Lys220Asn		18278902	NM_006440	O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391109	0.82902	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.57	3.22	0.36961	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.118609	0.56097	D	0.000032	T	0.71467	0.3343	M	0.92738	3.34	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.991;0.991;1.0	D;P;P;D	0.79108	0.992;0.829;0.889;0.992	T	0.72187	-0.4366	10	0.66056	D	0.02	-25.0123	8.3183	0.32113	0.0:0.2599:0.0:0.7401	.	220;220;188;219	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	N	190;220;220;197;124;219;219;190;220	ENSP00000383362:K190N;ENSP00000383365:K220N;ENSP00000383369:K197N;ENSP00000383363:K219N;ENSP00000439314:K219N;ENSP00000439570:K190N;ENSP00000334451:K220N	ENSP00000334451:K220N	K	-	3	2	TXNRD2	18278902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.356000	0.44116	0.402000	0.25451	0.533000	0.62120	AAA		0.527	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440	
DGCR8	54487	broad.mit.edu	37	22	20077238	20077238	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:20077238G>T	ENST00000351989.3	+	4	1356	c.927G>T	c.(925-927)atG>atT	p.M309I	DGCR8_ENST00000383024.2_Missense_Mutation_p.M309I|DGCR8_ENST00000407755.1_Missense_Mutation_p.M309I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	309	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.M309I(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGTGGATCATGACATTCCATA	0.537																																					p.M309I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	22						.						114.0	105.0	108.0					22																	20077238		2203	4300	6503	18457238	SO:0001583	missense	54487	exon4			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.927G>T	22.37:g.20077238G>T	ENSP00000263209:p.Met309Ile		18457238	NM_001190326	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891026	0.91889	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33438	1.44;1.41;1.41	5.68	5.68	0.88126	WW/Rsp5/WWP (3);	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	N	0.14661	0.345	0.80722	D	1	P;P	0.52577	0.954;0.817	D;B	0.66351	0.943;0.36	T	0.38001	-0.9681	10	0.52906	T	0.07	-18.5149	19.3812	0.94536	0.0:0.0:1.0:0.0	.	309;309	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	I	309	ENSP00000263209:M309I;ENSP00000372488:M309I;ENSP00000384726:M309I	ENSP00000263209:M309I	M	+	3	0	DGCR8	18457238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.354000	0.97083	2.677000	0.91161	0.650000	0.86243	ATG		0.537	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1		
PI4KA	5297	broad.mit.edu	37	22	21104265	21104265	+	Silent	SNP	G	G	A	rs146663036		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:21104265G>A	ENST00000572273.1	-	28	3227	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	PI4KA_ENST00000255882.6_Silent_p.F1057F			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	999					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.F999F(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCGTGCAGCGAAGTCCTTCA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19869	0.0		0.001	False		,,,				2504	0.0				p.F999F	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2997T	22						.	G		1,4405	2.1+/-5.4	0,1,2202	99.0	79.0	86.0		2997	-7.5	0.7	22	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PI4KA	NM_058004.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		999/2045	21104265	2,13004	2203	4300	6503	19434265	SO:0001819	synonymous_variant	5297	exon28			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2997C>T	22.37:g.21104265G>A			19434265	NM_058004	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
PI4KA	5297	broad.mit.edu	37	22	21115658	21115658	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:21115658C>A	ENST00000572273.1	-	23	2781	c.2551G>T	c.(2551-2553)Gat>Tat	p.D851Y	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.D909Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	851					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.D851Y(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGATCAGGATCTGTTGAACGC	0.388																																					p.D851Y	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2551T	22						.						94.0	85.0	88.0					22																	21115658		2203	4300	6503	19445658	SO:0001583	missense	5297	exon23			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2551G>T	22.37:g.21115658C>A	ENSP00000458238:p.Asp851Tyr		19445658	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.664545	0.88251	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.29	5.29	0.74685	.	0.047754	0.85682	D	0.000000	T	0.66577	0.2803	L	0.43152	1.355	0.80722	D	1	B	0.32543	0.375	B	0.43728	0.429	T	0.67662	-0.5613	9	0.66056	D	0.02	-20.2127	19.1301	0.93402	0.0:1.0:0.0:0.0	.	851	P42356	PI4KA_HUMAN	Y	851	.	ENSP00000255882:D851Y	D	-	1	0	PI4KA	19445658	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.266000	0.78452	2.767000	0.95098	0.655000	0.94253	GAT		0.388	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
CRKL	1399	broad.mit.edu	37	22	21288475	21288475	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:21288475G>A	ENST00000354336.3	+	2	1229	c.720G>A	c.(718-720)gcG>gcA	p.A240A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	240	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A240A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CTGTCTTTGCGAAAGCAATCC	0.478																																					p.A240A	Pancreas(85;3 1441 23889 42519 42763)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	22						.						98.0	88.0	91.0					22																	21288475		2203	4300	6503	19618475	SO:0001819	synonymous_variant	1399	exon2				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.720G>A	22.37:g.21288475G>A			19618475	NM_005207	A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	37	CCDS13785.1																																																																																				0.478	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207	
CCDC116	164592	broad.mit.edu	37	22	21988735	21988735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:21988735C>T	ENST00000292779.3	+	3	658	c.497C>T	c.(496-498)gCc>gTc	p.A166V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A166V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	166								p.A166V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGCCTCATGGCCGGCTGTCTG	0.617																																					p.A166V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	22						.						56.0	63.0	61.0					22																	21988735		2202	4299	6501	20318735	SO:0001583	missense	164592	exon3			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.497C>T	22.37:g.21988735C>T	ENSP00000292779:p.Ala166Val		20318735	NM_152612	Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728766	0.48833	.	.	ENSG00000161180	ENST00000292779	T	0.21031	2.03	4.42	-0.521	0.11931	.	0.393903	0.21692	N	0.070551	T	0.17066	0.0410	L	0.46157	1.445	0.09310	N	1	P;P	0.44816	0.703;0.844	B;P	0.47015	0.319;0.534	T	0.08207	-1.0733	9	.	.	.	-61.6135	1.0615	0.01601	0.1836:0.4296:0.1789:0.2079	.	166;166	B7Z7H5;Q8IYX3-2	.;.	V	166	ENSP00000292779:A166V	.	A	+	2	0	CCDC116	20318735	0.000000	0.05858	0.009000	0.14445	0.565000	0.35776	0.048000	0.14078	0.205000	0.20568	0.491000	0.48974	GCC		0.617	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612	
YPEL1	29799	broad.mit.edu	37	22	22057727	22057727	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:22057727G>T	ENST00000339468.3	-	4	585	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	68						nucleus (GO:0005634)		p.L68I(1)		breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGCCCGGTGAGAAGGACCCTC	0.672																																					p.L68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202A	22						.						120.0	101.0	107.0					22																	22057727		2203	4300	6503	20387727	SO:0001583	missense	29799	exon4			AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.202C>A	22.37:g.22057727G>T	ENSP00000342832:p.Leu68Ile		20387727	NM_013313	Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188326	0.57909	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.07	4.07	0.47477	.	0.150778	0.44688	D	0.000436	T	0.57198	0.2037	L	0.49350	1.555	0.80722	D	1	B	0.23591	0.088	B	0.32677	0.15	T	0.53760	-0.8393	9	0.29301	T	0.29	.	12.1692	0.54148	0.0851:0.0:0.9149:0.0	.	68	O60688	YPEL1_HUMAN	I	68	.	ENSP00000342832:L68I	L	-	1	0	YPEL1	20387727	1.000000	0.71417	0.485000	0.27403	0.854000	0.48673	6.507000	0.73717	2.575000	0.86900	0.558000	0.71614	CTC		0.672	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313	
PRAME	23532	broad.mit.edu	37	22	22892289	22892289	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:22892289T>C	ENST00000398741.1	-	5	1118	c.812A>G	c.(811-813)cAt>cGt	p.H271R	PRAME_ENST00000402697.1_Missense_Mutation_p.H271R|PRAME_ENST00000398743.2_Missense_Mutation_p.H271R|PRAME_ENST00000405655.3_Missense_Mutation_p.H271R|PRAME_ENST00000424204.2_Missense_Mutation_p.H255R|PRAME_ENST00000539862.1_Missense_Mutation_p.H255R|PRAME_ENST00000543184.1_Missense_Mutation_p.H271R|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	271					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.H271R(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGAAGATGCATGGATGTGGGA	0.512																																					p.H271R	Melanoma(73;1707 1838 15168 27201)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A812G	22						.						110.0	97.0	102.0					22																	22892289		2203	4300	6503	21222289	SO:0001583	missense	23532	exon5			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.812A>G	22.37:g.22892289T>C	ENSP00000381726:p.His271Arg		21222289	NM_206955	B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	T	7.817	0.716909	0.15306	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69	3.78	-4.04	0.04010	.	0.521356	0.19712	N	0.107788	T	0.07728	0.0194	L	0.38531	1.155	0.09310	N	1	B	0.16166	0.016	B	0.17722	0.019	T	0.17167	-1.0378	10	0.39692	T	0.17	.	4.0435	0.09761	0.3099:0.4011:0.0:0.289	.	271	P78395	PRAME_HUMAN	R	271;271;271;271;255;271;255	ENSP00000381728:H271R;ENSP00000445675:H271R;ENSP00000381726:H271R;ENSP00000384343:H271R;ENSP00000445097:H255R;ENSP00000385198:H271R;ENSP00000407342:H255R	ENSP00000381726:H271R	H	-	2	0	PRAME	21222289	0.008000	0.16893	0.001000	0.08648	0.004000	0.04260	-0.192000	0.09587	-1.061000	0.03185	0.533000	0.62120	CAT		0.512	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
PRAME	23532	broad.mit.edu	37	22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	rs116965324	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:22892481C>T	ENST00000398741.1	-	5	926	c.620G>A	c.(619-621)cGc>cAc	p.R207H	PRAME_ENST00000402697.1_Missense_Mutation_p.R207H|PRAME_ENST00000398743.2_Missense_Mutation_p.R207H|PRAME_ENST00000405655.3_Missense_Mutation_p.R207H|PRAME_ENST00000424204.2_Missense_Mutation_p.R191H|PRAME_ENST00000539862.1_Missense_Mutation_p.R191H|PRAME_ENST00000543184.1_Missense_Mutation_p.R207H|PRAME_ENST00000485532.1_5'Flank	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	207					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.R207H(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		20030	0.0		0.002	False		,,,				2504	0.0				p.R207H	Melanoma(73;1707 1838 15168 27201)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620A	22						.						143.0	140.0	141.0					22																	22892481		2203	4300	6503	21222481	SO:0001583	missense	23532	exon5			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.620G>A	22.37:g.22892481C>T	ENSP00000381726:p.Arg207His		21222481	NM_206955	B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	0.004	-2.275362	0.00257	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63;2.63	3.56	0.203	0.15195	.	0.828357	0.10766	N	0.636584	T	0.01835	0.0058	N	0.00059	-2.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	6.1532	0.20322	0.0:0.3452:0.0:0.6548	.	207	P78395	PRAME_HUMAN	H	207;207;207;207;191;207;191	ENSP00000381728:R207H;ENSP00000445675:R207H;ENSP00000381726:R207H;ENSP00000384343:R207H;ENSP00000445097:R191H;ENSP00000385198:R207H;ENSP00000407342:R191H	ENSP00000381726:R207H	R	-	2	0	PRAME	21222481	0.000000	0.05858	0.016000	0.15963	0.034000	0.12701	-1.596000	0.02091	-0.045000	0.13468	-0.285000	0.09966	CGC		0.443	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
RSPH14	27156	broad.mit.edu	37	22	23401654	23401654	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:23401654C>T	ENST00000216036.4	-	7	1229	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		345								p.E345K(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGTTTGAACTCGATGACACTG	0.537																																					p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	22						.						116.0	114.0	115.0					22																	23401654		2203	4300	6503	21731654	SO:0001583	missense	27156	exon7																														ENST00000216036.4:c.1033G>A	22.37:g.23401654C>T	ENSP00000216036:p.Glu345Lys		21731654	NM_014433		Missense_Mutation	SNP	ENST00000216036.4	37	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389726	0.25118	.	.	ENSG00000100218	ENST00000216036	T	0.30182	1.54	5.08	3.98	0.46160	.	0.696409	0.14346	N	0.325405	T	0.19805	0.0476	L	0.43923	1.385	0.80722	D	1	P	0.49635	0.926	B	0.33960	0.173	T	0.03922	-1.0992	10	0.16896	T	0.51	-38.5646	10.9851	0.47518	0.0:0.811:0.189:0.0	.	345	Q9UHP6	RTDR1_HUMAN	K	345	ENSP00000216036:E345K	ENSP00000216036:E345K	E	-	1	0	RTDR1	21731654	0.230000	0.23740	0.961000	0.40146	0.054000	0.15201	0.582000	0.23834	2.533000	0.85409	0.561000	0.74099	GAG		0.537	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1		
RSPH14	27156	broad.mit.edu	37	22	23406139	23406139	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:23406139C>A	ENST00000216036.4	-	5	790	c.594G>T	c.(592-594)aaG>aaT	p.K198N		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		198								p.K198N(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CGCTGAGGAGCTTCTGCTTCA	0.612																																					p.K198N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G594T	22						.						113.0	96.0	102.0					22																	23406139		2203	4300	6503	21736139	SO:0001583	missense	27156	exon5																														ENST00000216036.4:c.594G>T	22.37:g.23406139C>A	ENSP00000216036:p.Lys198Asn		21736139	NM_014433		Missense_Mutation	SNP	ENST00000216036.4	37	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431441	0.25813	.	.	ENSG00000100218	ENST00000216036	T	0.48836	0.8	4.77	0.0395	0.14205	Armadillo-like helical (1);Armadillo-type fold (1);	0.781774	0.11720	N	0.536024	T	0.55737	0.1939	L	0.61036	1.89	0.51233	D	0.999917	D	0.71674	0.998	D	0.66351	0.943	T	0.53844	-0.8381	10	0.29301	T	0.29	-15.7646	4.9132	0.13833	0.0:0.5754:0.1532:0.2714	.	198	Q9UHP6	RTDR1_HUMAN	N	198	ENSP00000216036:K198N	ENSP00000216036:K198N	K	-	3	2	RTDR1	21736139	0.075000	0.21258	0.459000	0.27081	0.018000	0.09664	-0.089000	0.11180	-0.061000	0.13110	-0.266000	0.10368	AAG		0.612	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1		
RGL4	266747	broad.mit.edu	37	22	24034556	24034556	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:24034556G>A	ENST00000290691.5	+	2	1384	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	72					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E72K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGGCCCCCCGAAAACACTTC	0.572																																					p.E72K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	22						.						217.0	210.0	212.0					22																	24034556		2203	4300	6503	22364556	SO:0001583	missense	266747	exon2				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.214G>A	22.37:g.24034556G>A	ENSP00000290691:p.Glu72Lys		22364556	NM_153615	Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.371445	0.24771	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.34275	1.37;1.37	1.43	-2.87	0.05700	.	1.400230	0.05020	U	0.472576	T	0.39655	0.1086	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	P;P	0.58077	0.721;0.832	T	0.50030	-0.8875	10	0.62326	D	0.03	.	6.4568	0.21934	0.2206:0.5314:0.2481:0.0	.	72;72	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	K	72	ENSP00000290691:E72K;ENSP00000402142:E72K	ENSP00000290691:E72K	E	+	1	0	RGL4	22364556	0.773000	0.28580	0.000000	0.03702	0.000000	0.00434	0.522000	0.22909	-3.032000	0.00266	-1.255000	0.01485	GAA		0.572	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615	
MMP11	4320	broad.mit.edu	37	22	24122865	24122865	+	Silent	SNP	C	C	T	rs369986636		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:24122865C>T	ENST00000215743.3	+	4	631	c.579C>T	c.(577-579)ttC>ttT	p.F193F	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	193					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F193F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	ATGTCCACTTCGACTATGATG	0.577																																					p.F193F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	22						.	C		0,4406		0,0,2203	71.0	70.0	70.0		579	-3.0	1.0	22		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MMP11	NM_005940.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		193/489	24122865	1,13005	2203	4300	6503	22452865	SO:0001819	synonymous_variant	4320	exon4				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.579C>T	22.37:g.24122865C>T			22452865	NM_005940	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	CCDS13816.1																																																																																				0.577	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940	
GGT5	2687	broad.mit.edu	37	22	24622608	24622608	+	Silent	SNP	C	C	T	rs58692741		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:24622608C>T	ENST00000327365.4	-	7	1445	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	GGT5_ENST00000263112.7_Silent_p.P311P|GGT5_ENST00000398292.3_Silent_p.P343P|GGT5_ENST00000418439.2_Silent_p.P266P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	343					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.P343P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCTGGAGCTTCGGGTGGCTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15626	0.001		0.0	False		,,,				2504	0.0				p.P343P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	22						.						74.0	70.0	71.0					22																	24622608		2203	4300	6503	22952608	SO:0001819	synonymous_variant	2687	exon7			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1029G>A	22.37:g.24622608C>T			22952608	NM_004121	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	CCDS13825.1																																																																																				0.627	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121	
ADORA2A	135	broad.mit.edu	37	22	24837060	24837060	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:24837060C>T	ENST00000337539.7	+	3	1301	c.842C>T	c.(841-843)tCg>tTg	p.S281L	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	281					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.S281L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CACACCAATTCGGTTGTGAAT	0.567																																					p.S281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C842T	22						.						94.0	87.0	90.0					22																	24837060		2203	4300	6503	23167060	SO:0001583	missense	135	exon3			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.842C>T	22.37:g.24837060C>T	ENSP00000336630:p.Ser281Leu		23167060	NM_000675	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175577	0.94807	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.79554	-1.28;-1.28	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94994	0.8137	10	0.87932	D	0	-28.2139	17.5681	0.87926	0.0:1.0:0.0:0.0	.	281	P29274	AA2AR_HUMAN	L	281	ENSP00000414802:S281L;ENSP00000336630:S281L	ENSP00000336630:S281L	S	+	2	0	ADORA2A	23167060	1.000000	0.71417	0.663000	0.29738	0.985000	0.73830	7.590000	0.82653	2.385000	0.81259	0.462000	0.41574	TCG		0.567	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
ADORA2A	135	broad.mit.edu	37	22	24837121	24837121	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:24837121G>T	ENST00000337539.7	+	3	1362	c.903G>T	c.(901-903)aaG>aaT	p.K301N	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	301					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)	p.K301N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CCTTCCGCAAGATCATTCGCA	0.587																																					p.K301N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G903T	22						.						75.0	64.0	68.0					22																	24837121		2203	4300	6503	23167121	SO:0001583	missense	135	exon3			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.903G>T	22.37:g.24837121G>T	ENSP00000336630:p.Lys301Asn		23167121	NM_000675	B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805952	0.50421	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.41065	1.01;1.01	4.75	4.75	0.60458	.	0.101533	0.64402	D	0.000003	T	0.37919	0.1021	M	0.61703	1.905	0.58432	D	0.999993	B	0.32051	0.354	B	0.28638	0.092	T	0.31779	-0.9931	10	0.46703	T	0.11	-29.7135	10.2491	0.43358	0.1:0.0:0.9:0.0	.	301	P29274	AA2AR_HUMAN	N	301	ENSP00000414802:K301N;ENSP00000336630:K301N	ENSP00000336630:K301N	K	+	3	2	ADORA2A	23167121	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.503000	0.53340	2.473000	0.83533	0.462000	0.41574	AAG		0.587	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675	
PIWIL3	440822	broad.mit.edu	37	22	25115745	25115745	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25115745A>G	ENST00000332271.5	-	20	2918	c.2502T>C	c.(2500-2502)taT>taC	p.Y834Y	PIWIL3_ENST00000527701.1_Silent_p.Y716Y|PIWIL3_ENST00000533313.1_Silent_p.Y716Y|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	834	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.Y834Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCATAGACAATATGTTAAAC	0.363																																					p.Y834Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2502C	22						.						98.0	95.0	96.0					22																	25115745		2203	4300	6503	23445745	SO:0001819	synonymous_variant	440822	exon20			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2502T>C	22.37:g.25115745A>G			23445745	NM_001008496		Silent	SNP	ENST00000332271.5	37	CCDS33623.1																																																																																				0.363	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PIWIL3	440822	broad.mit.edu	37	22	25150797	25150797	+	Missense_Mutation	SNP	G	G	A	rs142590557		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25150797G>A	ENST00000332271.5	-	7	1143	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R134C|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R134C|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	243					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.R243C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAATAGTTGCGACCAACTTGT	0.348													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18387	0.0		0.0	False		,,,				2504	0.0				p.R243C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C727T	22						.	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	115.0	117.0	116.0		727	2.4	0.9	22	dbSNP_134	116	0,8600		0,0,4300	yes	missense	PIWIL3	NM_001008496.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	243/883	25150797	2,13004	2203	4300	6503	23480797	SO:0001583	missense	440822	exon7			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.727C>T	22.37:g.25150797G>A	ENSP00000330031:p.Arg243Cys		23480797	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.97	2.694675	0.48202	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.20069	2.1;2.1;2.1	2.41	2.41	0.29592	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	U	0.000000	T	0.48295	0.1492	M	0.90369	3.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.55016	-0.8206	10	0.87932	D	0	-3.4366	8.428	0.32739	0.0:0.0:1.0:0.0	.	134;243;243	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	C	243;134;134	ENSP00000330031:R243C;ENSP00000431843:R134C;ENSP00000435718:R134C	ENSP00000330031:R243C	R	-	1	0	PIWIL3	23480797	1.000000	0.71417	0.878000	0.34440	0.032000	0.12392	2.018000	0.40991	1.673000	0.50895	0.455000	0.32223	CGC		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PIWIL3	440822	broad.mit.edu	37	22	25151834	25151834	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25151834G>A	ENST00000332271.5	-	6	1025	c.609C>T	c.(607-609)atC>atT	p.I203I	PIWIL3_ENST00000527701.1_Silent_p.I94I|PIWIL3_ENST00000533313.1_Silent_p.I94I|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	203					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.I203I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAATCTTCACGATGTTTTTGT	0.373																																					p.I203I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C609T	22						.						145.0	137.0	140.0					22																	25151834		2203	4300	6503	23481834	SO:0001819	synonymous_variant	440822	exon6			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.609C>T	22.37:g.25151834G>A			23481834	NM_001008496		Silent	SNP	ENST00000332271.5	37	CCDS33623.1																																																																																				0.373	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
SGSM1	129049	broad.mit.edu	37	22	25264350	25264350	+	Silent	SNP	C	C	T	rs375206010		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25264350C>T	ENST00000400359.4	+	11	1009	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	SGSM1_ENST00000400358.4_Silent_p.S334S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	334	Required for interaction with RAP family members.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.S334S(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						CAGTTGACAGCGGCGGGACAG	0.647																																					p.S334S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002T	22						.	C	,,,	0,4084		0,0,2042	31.0	35.0	34.0		1002,1002,1002,1002	2.8	1.0	22		34	1,8363		0,1,4181	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	,,,	0,1,6223	TT,TC,CC		0.012,0.0,0.0080	,,,	334/1149,334/1094,334/1033,334/1088	25264350	1,12447	2042	4182	6224	23594350	SO:0001819	synonymous_variant	129049	exon11			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.1002C>T	22.37:g.25264350C>T			23594350	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	CCDS46674.1																																																																																				0.647	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
SGSM1	129049	broad.mit.edu	37	22	25301121	25301121	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25301121C>A	ENST00000400359.4	+	22	2957	c.2950C>A	c.(2950-2952)Ctt>Att	p.L984I	SGSM1_ENST00000400358.4_Missense_Mutation_p.L929I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	984	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.L929I(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						CATGTGTGATCTTCTGGCTCC	0.537																																					p.L929I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2785A	22						.						283.0	275.0	278.0					22																	25301121		2143	4253	6396	23631121	SO:0001583	missense	129049	exon21			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.2950C>A	22.37:g.25301121C>A	ENSP00000383212:p.Leu984Ile		23631121	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676477	0.88445	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.05258	3.47;3.47	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.055931	0.64402	D	0.000001	T	0.25938	0.0632	M	0.66560	2.04	0.58432	D	0.999998	P;P;P;D	0.89917	0.933;0.714;0.928;1.0	P;P;P;D	0.91635	0.784;0.737;0.885;0.999	T	0.00059	-1.2166	10	0.87932	D	0	-28.6862	19.0368	0.92982	0.0:1.0:0.0:0.0	.	929;984;1001;984	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	I	984;929;984	ENSP00000383211:L929I;ENSP00000383212:L984I	ENSP00000383211:L929I	L	+	1	0	SGSM1	23631121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.660000	0.61511	2.823000	0.97156	0.643000	0.83706	CTT		0.537	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
SGSM1	129049	broad.mit.edu	37	22	25315920	25315920	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:25315920G>T	ENST00000400359.4	+	25	3325	c.3318G>T	c.(3316-3318)gaG>gaT	p.E1106D	SGSM1_ENST00000400358.4_Missense_Mutation_p.E1051D	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1106						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.E1051D(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						TCATTTTGGAGAACAACATGG	0.527																																					p.E1051D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3153T	22						.						90.0	83.0	85.0					22																	25315920		2063	4209	6272	23645920	SO:0001583	missense	129049	exon24			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3318G>T	22.37:g.25315920G>T	ENSP00000383212:p.Glu1106Asp		23645920	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	g	4.826	0.153656	0.09185	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.25250	1.81;1.81	5.53	1.88	0.25563	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	N	0.03224	-0.385	0.45791	D	0.99867	B;B;D;P	0.60575	0.02;0.024;0.988;0.462	B;B;P;B	0.59221	0.07;0.024;0.854;0.065	T	0.07558	-1.0766	10	0.02654	T	1	-32.9947	10.1692	0.42900	0.2704:0.0:0.7296:0.0	.	1051;1106;1123;1106	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	D	1106;1051;1106	ENSP00000383211:E1051D;ENSP00000383212:E1106D	ENSP00000383211:E1051D	E	+	3	2	SGSM1	23645920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.422000	0.34826	0.832000	0.34804	-0.140000	0.14226	GAG		0.527	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
MYO18B	84700	broad.mit.edu	37	22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	rs139296373	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26157081G>A	ENST00000407587.2	+	2	191	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A8T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCACGCCTCGCCCTGTGGGA	0.592													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21771	0.0		0.001	False		,,,				2504	0.0				p.A8T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22A	22						.	G	THR/ALA	0,4378		0,0,2189	102.0	103.0	102.0		22	5.3	1.0	22	dbSNP_134	102	2,8558	2.2+/-6.3	0,2,4278	no	missense	MYO18B	NM_032608.5	58	0,2,6467	AA,AG,GG		0.0234,0.0,0.0155	benign	8/2568	26157081	2,12936	2189	4280	6469	24487081	SO:0001583	missense	84700	exon2			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.22G>A	22.37:g.26157081G>A	ENSP00000386096:p.Ala8Thr		24487081	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.9	4.874543	0.91664	0.0	2.34E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88896	-2.42;-2.42;-2.44	5.3	5.3	0.74995	.	0.000000	0.36101	N	0.002800	D	0.92909	0.7744	L	0.56769	1.78	0.34314	D	0.685746	D	0.89917	1.0	D	0.87578	0.998	D	0.95653	0.8708	10	0.87932	D	0	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	8	F5GYU7	.	T	8	ENSP00000441229:A8T;ENSP00000334563:A8T;ENSP00000386096:A8T	ENSP00000334563:A8T	A	+	1	0	MYO18B	24487081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.191000	0.65110	2.487000	0.83934	0.591000	0.81541	GCC		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26164630	26164630	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26164630G>T	ENST00000407587.2	+	4	916	c.747G>T	c.(745-747)aaG>aaT	p.K249N	MYO18B_ENST00000335473.7_Missense_Mutation_p.K249N|MYO18B_ENST00000536101.1_Missense_Mutation_p.K249N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	249						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K249N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCCCCAAGACCACAGAGC	0.652																																					p.K249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G747T	22						.						23.0	29.0	27.0					22																	26164630		1907	4109	6016	24494630	SO:0001583	missense	84700	exon4			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.747G>T	22.37:g.26164630G>T	ENSP00000386096:p.Lys249Asn		24494630	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	g	4.652	0.121179	0.08881	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.17;-2.17;-2.19	4.81	2.71	0.32032	.	0.904474	0.08975	N	0.866627	T	0.76026	0.3930	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.21546	0.016;0.035;0.035	T	0.61173	-0.7116	10	0.42905	T	0.14	.	9.3296	0.38014	0.1459:0.1233:0.7308:0.0	.	249;249;249	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	249	ENSP00000441229:K249N;ENSP00000334563:K249N;ENSP00000386096:K249N	ENSP00000334563:K249N	K	+	3	2	MYO18B	24494630	0.986000	0.35501	0.823000	0.32752	0.016000	0.09150	2.040000	0.41203	0.125000	0.18397	-1.829000	0.00594	AAG		0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26165302	26165302	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26165302G>T	ENST00000407587.2	+	4	1588	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N	MYO18B_ENST00000335473.7_Missense_Mutation_p.K473N|MYO18B_ENST00000536101.1_Missense_Mutation_p.K473N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	473						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K473N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCTGGAGAAGGATGCAGAAA	0.642																																					p.K473N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1419T	22						.						12.0	15.0	14.0					22																	26165302		2013	4161	6174	24495302	SO:0001583	missense	84700	exon4			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1419G>T	22.37:g.26165302G>T	ENSP00000386096:p.Lys473Asn		24495302	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	9.425	1.084084	0.20309	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	4.53	1.04	0.20106	.	2.990260	0.00979	N	0.003342	T	0.77552	0.4147	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59445	-0.7453	10	0.27082	T	0.32	.	2.3434	0.04265	0.131:0.3768:0.3187:0.1736	.	473;473;473	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	473	ENSP00000441229:K473N;ENSP00000334563:K473N;ENSP00000386096:K473N	ENSP00000334563:K473N	K	+	3	2	MYO18B	24495302	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.428000	0.06991	0.076000	0.16826	0.491000	0.48974	AAG		0.642	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26294417	26294417	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26294417G>T	ENST00000407587.2	+	29	4984	c.4815G>T	c.(4813-4815)aaG>aaT	p.K1605N	CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.K1604N|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000595093.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.K1604N|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1604	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1605N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGCTGGAGAAGAAGCAGAAGA	0.522																																					p.K1604N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4812T	22						.						118.0	117.0	117.0					22																	26294417		2070	4204	6274	24624417	SO:0001583	missense	84700	exon29			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4815G>T	22.37:g.26294417G>T	ENSP00000386096:p.Lys1605Asn		24624417	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.050103	0.75846	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.89617	-2.54;-2.54;-1.2	5.9	4.89	0.63831	.	0.322332	0.28198	N	0.016232	D	0.91590	0.7343	M	0.76574	2.34	0.41153	D	0.98604	P;P;D;D	0.54601	0.943;0.945;0.959;0.967	P;P;P;P	0.56127	0.736;0.625;0.714;0.792	D	0.91941	0.5563	10	0.87932	D	0	.	9.1682	0.37065	0.1634:0.0:0.8366:0.0	.	1117;1604;1605;1604	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1604;1604;1605	ENSP00000441229:K1604N;ENSP00000334563:K1604N;ENSP00000386096:K1605N	ENSP00000334563:K1604N	K	+	3	2	MYO18B	24624417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.713000	0.47194	1.501000	0.48654	0.655000	0.94253	AAG		0.522	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26423385	26423385	+	Missense_Mutation	SNP	G	G	A	rs577931213		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26423385G>A	ENST00000407587.2	+	43	7617	c.7448G>A	c.(7447-7449)cGt>cAt	p.R2483H	MYO18B_ENST00000335473.7_Missense_Mutation_p.R2482H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R2482H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2482						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R2483H(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGCTAACCGTTCCTTTCTC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20053	0.0		0.0	False		,,,				2504	0.0				p.R2482H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7445A	22						.						80.0	82.0	81.0					22																	26423385		1999	4158	6157	24753385	SO:0001583	missense	84700	exon43			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7448G>A	22.37:g.26423385G>A	ENSP00000386096:p.Arg2483His		24753385	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.424|3.424	-0.117597|-0.117597	0.06838|0.06838	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86865|.	-2.17;-2.17;-2.18|.	5.17|5.17	3.05|3.05	0.35203|0.35203	.|.	0.458028|.	0.16030|.	N|.	0.232938|.	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.32829|.	0.252;0.267;0.267;0.386;0.386|.	B;B;B;B;B|.	0.21917|.	0.026;0.016;0.016;0.037;0.037|.	T|T	0.31613|0.31613	-0.9937|-0.9937	10|5	0.72032|.	D|.	0.01|.	.|.	4.7489|4.7489	0.13050|0.13050	0.2408:0.0:0.605:0.1541|0.2408:0.0:0.605:0.1541	.|.	1995;2484;2482;2483;2482|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	H|I	2482;2482;2483|432	ENSP00000441229:R2482H;ENSP00000334563:R2482H;ENSP00000386096:R2483H|.	ENSP00000334563:R2482H|.	R|V	+|+	2|1	0|0	MYO18B|MYO18B	24753385|24753385	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.016000|0.016000	0.09150|0.09150	0.342000|0.342000	0.19926|0.19926	1.169000|1.169000	0.42739|0.42739	0.561000|0.561000	0.74099|0.74099	CGT|GTT		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	broad.mit.edu	37	22	26688897	26688897	+	Missense_Mutation	SNP	C	C	T	rs200293457		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26688897C>T	ENST00000248933.6	+	2	715	c.620C>T	c.(619-621)tCg>tTg	p.S207L	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S207L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S207L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S207L|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	207					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S207L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCTTCACTTCGCAGCCCTAT	0.662																																					p.S207L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C620T	22						.						53.0	57.0	56.0					22																	26688897		2201	4293	6494	25018897	SO:0001583	missense	23544	exon2			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.620C>T	22.37:g.26688897C>T	ENSP00000248933:p.Ser207Leu		25018897	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659530	0.29515	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29655	1.82;1.93;2.0;1.82;1.56	4.49	4.49	0.54785	.	0.387872	0.18853	N	0.129344	T	0.14830	0.0358	N	0.08118	0	0.19945	N	0.999948	B;B;B;B;B;B	0.21309	0.004;0.01;0.054;0.025;0.01;0.01	B;B;B;B;B;B	0.12156	0.001;0.001;0.004;0.007;0.001;0.001	T	0.08006	-1.0743	10	0.42905	T	0.14	.	7.4189	0.27061	0.1661:0.7452:0.0:0.0887	.	207;207;207;207;207;207	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	L	207	ENSP00000384772:S207L;ENSP00000437037:S207L;ENSP00000354185:S207L;ENSP00000248933:S207L;ENSP00000342661:S207L	ENSP00000248933:S207L	S	+	2	0	SEZ6L	25018897	0.001000	0.12720	0.606000	0.28943	0.694000	0.40290	0.781000	0.26774	2.216000	0.71823	0.508000	0.49915	TCG		0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
SEZ6L	23544	broad.mit.edu	37	22	26736453	26736453	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26736453C>A	ENST00000248933.6	+	10	2162	c.2067C>A	c.(2065-2067)gtC>gtA	p.V689V	SEZ6L_ENST00000403121.1_Silent_p.V462V|SEZ6L_ENST00000404234.3_Silent_p.V689V|SEZ6L_ENST00000343706.4_Silent_p.V689V|SEZ6L_ENST00000360929.3_Silent_p.V689V|SEZ6L_ENST00000529632.2_Silent_p.V689V|SEZ6L_ENST00000402979.1_Silent_p.V462V			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	689	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.V689V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCGACGAGGTCATGCCCCACA	0.537																																					p.V689V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2067A	22						.						150.0	137.0	141.0					22																	26736453		2203	4300	6503	25066453	SO:0001819	synonymous_variant	23544	exon10			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2067C>A	22.37:g.26736453C>A			25066453	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.537	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
SEZ6L	23544	broad.mit.edu	37	22	26771561	26771561	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26771561A>G	ENST00000248933.6	+	15	2943	c.2848A>G	c.(2848-2850)Acg>Gcg	p.T950A	SEZ6L_ENST00000403121.1_Missense_Mutation_p.T646A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T949A|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T874A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T875A|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000529632.2_Missense_Mutation_p.T939A|SEZ6L_ENST00000402979.1_Missense_Mutation_p.T722A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	950					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.T950A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCAGCAGAGACGTCGCTGGA	0.572																																					p.T875A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2623G	22						.						99.0	81.0	87.0					22																	26771561		2203	4300	6503	25101561	SO:0001583	missense	23544	exon13			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2848A>G	22.37:g.26771561A>G	ENSP00000248933:p.Thr950Ala		25101561	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908429	0.52333	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.28069	1.94;2.02;2.11;1.92;1.66;1.63;1.92	5.33	0.563	0.17296	.	0.221905	0.29775	N	0.011232	T	0.17619	0.0423	N	0.22421	0.69	0.80722	D	1	P;P;B;B;B;P;P	0.39940	0.512;0.696;0.023;0.3;0.3;0.563;0.563	B;B;B;B;B;B;B	0.34722	0.13;0.188;0.008;0.066;0.066;0.188;0.188	T	0.02654	-1.1128	10	0.52906	T	0.07	.	10.8069	0.46522	0.5403:0.0:0.0:0.4597	.	937;939;646;874;875;949;950	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	A	949;939;875;950;874;646;722	ENSP00000384772:T949A;ENSP00000437037:T939A;ENSP00000354185:T875A;ENSP00000248933:T950A;ENSP00000342661:T874A;ENSP00000384838:T646A;ENSP00000384733:T722A	ENSP00000248933:T950A	T	+	1	0	SEZ6L	25101561	1.000000	0.71417	0.912000	0.35992	0.992000	0.81027	3.702000	0.54800	-0.264000	0.09365	-0.531000	0.04308	ACG		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
HPS4	89781	broad.mit.edu	37	22	26860708	26860708	+	Silent	SNP	G	G	A	rs138343171	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:26860708G>A	ENST00000398145.2	-	11	1504	c.888C>T	c.(886-888)aaC>aaT	p.N296N	HPS4_ENST00000336873.5_Silent_p.N296N|HPS4_ENST00000402105.3_Silent_p.N291N|HPS4_ENST00000398141.1_Silent_p.N309N|HPS4_ENST00000493455.2_5'Flank	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	296					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.N309N(1)|p.N296N(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCCAGTGGCGTTTTCTTTCA	0.567									Hermansky-Pudlak syndrome				G|||	5	0.000998403	0.0	0.0	5008	,	,		22214	0.0		0.005	False		,,,				2504	0.0				p.N291N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C873T	22						.	G	,	1,4405	2.1+/-5.4	0,1,2202	109.0	90.0	96.0		888,873	-8.7	0.0	22	dbSNP_134	96	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous,coding-synonymous	HPS4	NM_022081.4,NM_152841.1	,	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	,	296/709,291/704	26860708	15,12991	2203	4300	6503	25190708	SO:0001819	synonymous_variant	89781	exon9	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.888C>T	22.37:g.26860708G>A			25190708	NM_152841	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	CCDS13835.1																																																																																				0.567	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081	
CRYBB1	1414	broad.mit.edu	37	22	27003956	27003956	+	Missense_Mutation	SNP	C	C	T	rs533532537		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:27003956C>T	ENST00000215939.2	-	4	459	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	110	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R110H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CATCTCCCCGCGGAAGTTGGA	0.567																																					p.R110H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	22						.						89.0	72.0	78.0					22																	27003956		2203	4300	6503	25333956	SO:0001583	missense	1414	exon4				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.329G>A	22.37:g.27003956C>T	ENSP00000215939:p.Arg110His		25333956	NM_001887		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731951	0.48939	.	.	ENSG00000100122	ENST00000215939	T	0.78126	-1.15	4.64	2.55	0.30701	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.409242	0.27686	N	0.018280	T	0.78259	0.4255	M	0.88241	2.94	0.52501	D	0.999951	B	0.28552	0.215	B	0.26202	0.067	T	0.75019	-0.3465	10	0.46703	T	0.11	.	9.6196	0.39712	0.0:0.8304:0.0:0.1696	.	110	P53674	CRBB1_HUMAN	H	110	ENSP00000215939:R110H	ENSP00000215939:R110H	R	-	2	0	CRYBB1	25333956	0.869000	0.29996	0.714000	0.30535	0.955000	0.61496	2.265000	0.43311	0.571000	0.29365	0.585000	0.79938	CGC		0.567	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
CRYBB1	1414	broad.mit.edu	37	22	27008142	27008142	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:27008142C>T	ENST00000215939.2	-	3	323	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	65	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.E65K(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TTTTCCAGTTCGAAGACCACC	0.537																																					p.E65K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	22						.						56.0	51.0	53.0					22																	27008142		2203	4300	6503	25338142	SO:0001583	missense	1414	exon3				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.193G>A	22.37:g.27008142C>T	ENSP00000215939:p.Glu65Lys		25338142	NM_001887		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995809	0.93167	.	.	ENSG00000100122	ENST00000215939	T	0.80824	-1.42	4.02	4.02	0.46733	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.112768	0.64402	D	0.000015	D	0.91888	0.7432	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.94318	0.7551	10	0.87932	D	0	.	15.3041	0.73979	0.0:1.0:0.0:0.0	.	65	P53674	CRBB1_HUMAN	K	65	ENSP00000215939:E65K	ENSP00000215939:E65K	E	-	1	0	CRYBB1	25338142	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.730000	0.74780	2.072000	0.62099	0.491000	0.48974	GAA		0.537	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
MN1	4330	broad.mit.edu	37	22	28196070	28196070	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:28196070C>T	ENST00000302326.4	-	1	1416	c.462G>A	c.(460-462)gaG>gaA	p.E154E		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	154					intramembranous ossification (GO:0001957)			p.E154E(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCGCCATGTGCTCATAGCCCT	0.746			T	ETV6	"""AML, meningioma"""																																p.E154E			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G462A	22						.						7.0	9.0	8.0					22																	28196070		1858	4047	5905	26526070	SO:0001819	synonymous_variant	4330	exon1			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.462G>A	22.37:g.28196070C>T			26526070	NM_002430	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.746	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
PITPNB	23760	broad.mit.edu	37	22	28250906	28250906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:28250906G>A	ENST00000335272.5	-	11	866	c.790C>T	c.(790-792)Cga>Tga	p.R264*	PITPNB_ENST00000320996.10_Intron|PITPNB_ENST00000455418.3_Nonsense_Mutation_p.R266*	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	264					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)	p.R264*(1)		large_intestine(4)|lung(3)|skin(1)	8						GACGTGCCTCGAACGGAACCC	0.438																																					p.R264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C790T	22						.																																			26580906	SO:0001587	stop_gained	23760	exon11			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.790C>T	22.37:g.28250906G>A	ENSP00000334738:p.Arg264*		26580906	NM_012399	B3KYB8|B7Z7Q0|Q8N5W1	Intron	SNP	ENST00000335272.5	37	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454711	0.96223	.	.	ENSG00000180957	ENST00000335272;ENST00000455418	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0426	0.93006	0.0:0.0:1.0:0.0	.	.	.	.	X	264;266	.	ENSP00000334738:R264X	R	-	1	2	PITPNB	26580906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.269000	0.78482	2.748000	0.94277	0.655000	0.94253	CGA		0.438	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1		
CCDC117	150275	broad.mit.edu	37	22	29182259	29182259	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:29182259C>A	ENST00000249064.4	+	5	961	c.785C>A	c.(784-786)tCt>tAt	p.S262Y	CCDC117_ENST00000448492.2_Missense_Mutation_p.S244Y|CCDC117_ENST00000443309.2_Missense_Mutation_p.S130Y|CCDC117_ENST00000421503.2_Missense_Mutation_p.S187Y	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	262								p.S262Y(1)		breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						ACAGGGATGTCTCTTTATAAT	0.433																																					p.S262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785A	22						.						79.0	78.0	78.0					22																	29182259		2203	4300	6503	27512259	SO:0001583	missense	150275	exon5			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.785C>A	22.37:g.29182259C>A	ENSP00000249064:p.Ser262Tyr		27512259	NM_173510	A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279259	0.40294	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.36157	1.27;1.31;1.28;1.32	5.94	5.94	0.96194	.	0.258919	0.38778	N	0.001574	T	0.32194	0.0821	N	0.14661	0.345	0.25110	N	0.990721	P;P;P	0.42649	0.786;0.786;0.786	P;P;P	0.47251	0.542;0.542;0.542	T	0.29058	-1.0024	10	0.72032	D	0.01	.	14.8966	0.70649	0.0:0.8573:0.1427:0.0	.	187;244;262	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	Y	262;244;187;130	ENSP00000249064:S262Y;ENSP00000389478:S244Y;ENSP00000387827:S187Y;ENSP00000399363:S130Y	ENSP00000249064:S262Y	S	+	2	0	CCDC117	27512259	1.000000	0.71417	0.867000	0.34043	0.385000	0.30292	5.000000	0.63940	2.816000	0.96949	0.561000	0.74099	TCT		0.433	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510	
C22orf31	25770	broad.mit.edu	37	22	29454761	29454761	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:29454761T>G	ENST00000216071.4	-	3	893	c.842A>C	c.(841-843)aAg>aCg	p.K281T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	281								p.K281T(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GGGCCATTTCTTGAGTACAGG	0.483																																					p.K281T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A842C	22						.						121.0	105.0	110.0					22																	29454761		2203	4300	6503	27784761	SO:0001583	missense	25770	exon3			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.842A>C	22.37:g.29454761T>G	ENSP00000216071:p.Lys281Thr		27784761	NM_015370	A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	T	4.399	0.073720	0.08485	.	.	ENSG00000100249	ENST00000216071	T	0.35973	1.28	5.25	4.21	0.49690	.	0.924506	0.09158	N	0.840608	T	0.32823	0.0842	N	0.24115	0.695	0.09310	N	0.999999	P	0.46784	0.884	P	0.48677	0.586	T	0.11891	-1.0569	10	0.40728	T	0.16	-2.2026	7.6837	0.28528	0.0:0.0936:0.0:0.9064	.	281	O95567	CV031_HUMAN	T	281	ENSP00000216071:K281T	ENSP00000216071:K281T	K	-	2	0	C22orf31	27784761	0.749000	0.28305	0.706000	0.30403	0.027000	0.11550	1.069000	0.30641	1.123000	0.41961	0.533000	0.62120	AAG		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370	
C22orf31	25770	broad.mit.edu	37	22	29455128	29455128	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:29455128C>A	ENST00000216071.4	-	3	526	c.475G>T	c.(475-477)Gat>Tat	p.D159Y		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	159								p.D159Y(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TCCTCAAGATCTTGGCGGACT	0.493																																					p.D159Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475T	22						.						150.0	137.0	142.0					22																	29455128		2203	4300	6503	27785128	SO:0001583	missense	25770	exon3			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.475G>T	22.37:g.29455128C>A	ENSP00000216071:p.Asp159Tyr		27785128	NM_015370	A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910473	0.72983	.	.	ENSG00000100249	ENST00000216071	T	0.40476	1.03	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000015	T	0.53174	0.1780	L	0.29908	0.895	0.37550	D	0.918645	D	0.89917	1.0	D	0.97110	1.0	T	0.58200	-0.7678	10	0.87932	D	0	-16.8634	15.0734	0.72056	0.0:1.0:0.0:0.0	.	159	O95567	CV031_HUMAN	Y	159	ENSP00000216071:D159Y	ENSP00000216071:D159Y	D	-	1	0	C22orf31	27785128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.937000	0.99478	0.650000	0.86243	GAT		0.493	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370	
RFPL1	5988	broad.mit.edu	37	22	29837868	29837868	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:29837868C>T	ENST00000354373.2	+	2	920	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	237	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.F237F(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTTTCCTCTTCGTAGACCGCA	0.512																																					p.F237F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	22						.						127.0	108.0	114.0					22																	29837868		2203	4300	6503	28167868	SO:0001819	synonymous_variant	5988	exon2			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.711C>T	22.37:g.29837868C>T			28167868	NM_021026	Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																				0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026	
NEFH	4744	broad.mit.edu	37	22	29881820	29881820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:29881820G>T	ENST00000310624.6	+	3	1225	c.1192G>T	c.(1192-1194)Gag>Tag	p.E398*		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	398	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E398*(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCTGGATATAGAGATAGCCGC	0.547																																					p.E398X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	22						.						83.0	73.0	77.0					22																	29881820		2203	4300	6503	28211820	SO:0001587	stop_gained	4744	exon3				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1192G>T	22.37:g.29881820G>T	ENSP00000311997:p.Glu398*		28211820	NM_021076	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Nonsense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	38	6.802418	0.97849	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	.	.	.	5.67	4.66	0.58398	.	0.269718	0.26314	N	0.025100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5401	0.67987	0.07:0.0:0.93:0.0	.	.	.	.	X	398	.	ENSP00000311997:E398X	E	+	1	0	NEFH	28211820	1.000000	0.71417	0.971000	0.41717	0.911000	0.54048	9.863000	0.99569	1.419000	0.47118	0.650000	0.86243	GAG		0.547	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
NF2	4771	broad.mit.edu	37	22	30035126	30035126	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30035126C>A	ENST00000338641.4	+	3	729	c.288C>A	c.(286-288)ttC>ttA	p.F96L	NF2_ENST00000403435.1_Missense_Mutation_p.F96L|NF2_ENST00000334961.7_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.F54L|NF2_ENST00000361166.4_Missense_Mutation_p.F96L|NF2_ENST00000413209.2_Missense_Mutation_p.F96L|NF2_ENST00000361452.4_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.F96L|NF2_ENST00000353887.4_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.F96L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	96	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.		Missing (in NF2 and in sporadic meningioma). {ECO:0000269|PubMed:7913580, ECO:0000269|PubMed:8655144}.		actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F96del(2)|p.V86_Q111>E(1)|p.L97fs*22(1)|p.H84_F100del(1)|p.F96L(1)|p.H95fs*3(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CCTTTCACTTCTTGGCCAAAT	0.433			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.F96L		yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	.	10	Unknown(3)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)|Complex - deletion inframe(1)	meninges(3)|soft_tissue(3)|large_intestine(2)|stomach(1)|lung(1)	c.C288A	22	GRCh37	CD941738	NF2	D		.						137.0	119.0	125.0					22																	30035126		2203	4300	6503	28365126	SO:0001583	missense	4771	exon3	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.288C>A	22.37:g.30035126C>A	ENSP00000344666:p.Phe96Leu		28365126	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588532	0.66105	.	.	ENSG00000186575	ENST00000413209;ENST00000338641;ENST00000403435;ENST00000397822;ENST00000403999;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;D;T	0.89415	-0.74;-0.74;-0.74;-0.74;-0.74;-2.51;-0.74	6.17	-0.577	0.11727	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.092891	0.85682	D	0.000000	D	0.87481	0.6188	M	0.64567	1.98	0.80722	D	1	P;P;P;P;P	0.44195	0.75;0.65;0.597;0.801;0.828	P;B;B;B;B	0.48030	0.564;0.408;0.285;0.244;0.232	T	0.83090	-0.0133	9	.	.	.	.	10.0552	0.42241	0.0:0.5588:0.0:0.4412	.	96;96;96;54;96	P35240-9;P35240;P35240-2;P35240-6;P35240-3	.;MERL_HUMAN;.;.;.	L	96;96;96;96;96;96;54;96	ENSP00000409921:F96L;ENSP00000344666:F96L;ENSP00000384029:F96L;ENSP00000384797:F96L;ENSP00000380891:F96L;ENSP00000355183:F54L;ENSP00000354529:F96L	.	F	+	3	2	NF2	28365126	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	0.985000	0.29578	-0.010000	0.14271	0.655000	0.94253	TTC		0.433	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
NF2	4771	broad.mit.edu	37	22	30069405	30069405	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30069405C>T	ENST00000338641.4	+	12	1711	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	NF2_ENST00000403435.1_Missense_Mutation_p.R395C|NF2_ENST00000334961.7_Missense_Mutation_p.R341C|NF2_ENST00000361676.4_Missense_Mutation_p.R382C|NF2_ENST00000361166.4_Missense_Mutation_p.R424C|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Missense_Mutation_p.R383C|NF2_ENST00000403999.3_Missense_Mutation_p.R424C|NF2_ENST00000353887.4_Missense_Mutation_p.R341C|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Missense_Mutation_p.R424C	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	424	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.R424C(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GGAGGAGAAGCGCCTGATGGA	0.627			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.R424C		yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	.	4	Unknown(3)|Substitution - Missense(1)	large_intestine(2)|stomach(1)|central_nervous_system(1)	c.C1270T	22						.						56.0	48.0	51.0					22																	30069405		2203	4300	6503	28399405	SO:0001583	missense	4771	exon12	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1270C>T	22.37:g.30069405C>T	ENSP00000344666:p.Arg424Cys		28399405	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757698	0.89843	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	6.06	6.06	0.98353	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;0.994;0.994;0.995;0.997;0.998;1.0;0.997	P;P;P;P;P;P;D;P	0.65010	0.892;0.764;0.764;0.901;0.764;0.857;0.931;0.799	D	0.87720	0.2572	9	.	.	.	.	20.2159	0.98296	0.0:1.0:0.0:0.0	.	399;395;383;424;424;382;341;424	B7Z4B6;P35240-8;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;.;MERL_HUMAN;.;.;.;.	C	424;395;383;399;424;341;341;424;382;424	ENSP00000344666:R424C;ENSP00000384029:R395C;ENSP00000354897:R383C;ENSP00000384797:R424C;ENSP00000335652:R341C;ENSP00000340626:R341C;ENSP00000380891:R424C;ENSP00000355183:R382C;ENSP00000354529:R424C	.	R	+	1	0	NF2	28399405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.294000	0.43567	2.882000	0.98803	0.655000	0.94253	CGC		0.627	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
ASCC2	84164	broad.mit.edu	37	22	30186483	30186483	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30186483G>A	ENST00000397771.2	-	20	2254	c.2077C>T	c.(2077-2079)Cgc>Tgc	p.R693C	ASCC2_ENST00000542393.1_Missense_Mutation_p.R617C|ASCC2_ENST00000307790.3_Missense_Mutation_p.R693C			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R693C(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AAGGCCATGCGCCTGGCTTCT	0.597																																					p.R693C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2077T	22						.						58.0	51.0	53.0					22																	30186483		2203	4300	6503	28516483	SO:0001583	missense	84164	exon19			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2077C>T	22.37:g.30186483G>A	ENSP00000380877:p.Arg693Cys		28516483	NM_032204	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029259	0.75504	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.11169	2.8;2.8;2.81	5.76	4.69	0.59074	.	0.048539	0.85682	D	0.000000	T	0.28234	0.0697	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.964	T	0.00192	-1.1935	10	0.39692	T	0.17	-20.8225	12.4244	0.55538	0.0:0.0:0.7164:0.2836	.	617;693	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	C	693;693;617	ENSP00000305502:R693C;ENSP00000380877:R693C;ENSP00000437570:R617C	ENSP00000305502:R693C	R	-	1	0	ASCC2	28516483	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.077000	0.41557	2.713000	0.92767	0.655000	0.94253	CGC		0.597	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204	
HORMAD2	150280	broad.mit.edu	37	22	30517626	30517626	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30517626G>T	ENST00000336726.6	+	9	771	c.416G>T	c.(415-417)aGc>aTc	p.S139I	HORMAD2_ENST00000403975.1_Missense_Mutation_p.S139I	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	139	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)		p.S139I(1)		large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TGTAGTCATAGCAGCAGTACA	0.333																																					p.S139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416T	22						.						60.0	51.0	54.0					22																	30517626		1846	4096	5942	28847626	SO:0001583	missense	150280	exon9			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.416G>T	22.37:g.30517626G>T	ENSP00000336984:p.Ser139Ile		28847626	NM_152510	B5MEB2|Q8NHR2	Missense_Mutation	SNP	ENST00000336726.6	37	CCDS46683.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229216	0.39399	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.33216	1.42;1.42	4.63	4.63	0.57726	DNA-binding HORMA (4);	0.075873	0.45361	D	0.000380	T	0.48169	0.1485	L	0.49126	1.545	0.46458	D	0.999059	D	0.89917	1.0	D	0.76071	0.987	T	0.33929	-0.9849	10	0.37606	T	0.19	-2.5911	14.7834	0.69784	0.0:0.0:1.0:0.0	.	139	Q8N7B1	HORM2_HUMAN	I	139	ENSP00000336984:S139I;ENSP00000385055:S139I	ENSP00000336984:S139I	S	+	2	0	HORMAD2	28847626	0.988000	0.35896	0.158000	0.22627	0.039000	0.13416	2.834000	0.48167	2.414000	0.81942	0.655000	0.94253	AGC		0.333	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	NM_152510	
OSM	5008	broad.mit.edu	37	22	30660019	30660019	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30660019T>C	ENST00000215781.2	-	3	652	c.612A>G	c.(610-612)tcA>tcG	p.S204S	OSM_ENST00000403389.1_Silent_p.S183S	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	204					behavioral response to pain (GO:0048266)|cell proliferation (GO:0008283)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|peripheral nervous system development (GO:0007422)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|response to heat (GO:0009408)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	extracellular space (GO:0005615)|oncostatin-M receptor complex (GO:0005900)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|oncostatin-M receptor binding (GO:0005147)	p.S204S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CCCGCCCCACTGAGTGCATGA	0.677																																					p.S204S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A612G	22						.						38.0	42.0	40.0					22																	30660019		2203	4300	6503	28990019	SO:0001819	synonymous_variant	5008	exon3			AF129855	CCDS13873.1	22q12.2	2011-07-21			ENSG00000099985	ENSG00000099985			8506	protein-coding gene	gene with protein product		165095				1717982	Standard	NM_020530		Approved	MGC20461	uc003ahb.3	P13725	OTTHUMG00000150913	ENST00000215781.2:c.612A>G	22.37:g.30660019T>C			28990019	NM_020530	Q6FHP8|Q9UCP6	Silent	SNP	ENST00000215781.2	37	CCDS13873.1																																																																																				0.677	OSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320512.1	NM_020530	
SF3A1	10291	broad.mit.edu	37	22	30735169	30735169	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30735169C>T	ENST00000215793.8	-	10	1601	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	SF3A1_ENST00000439242.1_Missense_Mutation_p.A418T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	483					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A483T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTACCAATGGCTGTTTCCTCT	0.522																																					p.A418T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	22						.						249.0	199.0	216.0					22																	30735169		2203	4300	6503	29065169	SO:0001583	missense	10291	exon10			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1447G>A	22.37:g.30735169C>T	ENSP00000215793:p.Ala483Thr		29065169	NM_001005409	E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293805	0.80914	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	T;T	0.33216	1.42;1.43	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.64404	1.975	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.25950	-1.0117	10	0.18710	T	0.47	-23.8074	20.3248	0.98698	0.0:1.0:0.0:0.0	.	483	Q15459	SF3A1_HUMAN	T	418;483;380	ENSP00000390336:A418T;ENSP00000215793:A483T	ENSP00000215793:A483T	A	-	1	0	SF3A1	29065169	1.000000	0.71417	0.970000	0.41538	0.793000	0.44817	7.601000	0.82783	2.818000	0.97014	0.655000	0.94253	GCC		0.522	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877	
CCDC157	550631	broad.mit.edu	37	22	30765460	30765460	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30765460G>T	ENST00000405659.1	+	4	997	c.288G>T	c.(286-288)gaG>gaT	p.E96D	CCDC157_ENST00000338306.3_Missense_Mutation_p.E96D			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	96								p.E45D(1)|p.E96D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GCTACTTGGAGAACCTTGGCT	0.627																																					p.E96D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G288T	22						.						65.0	62.0	63.0					22																	30765460		2203	4300	6503	29095460	SO:0001583	missense	550631	exon4			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.288G>T	22.37:g.30765460G>T	ENSP00000385357:p.Glu96Asp		29095460	NM_001017437	Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440483	0.43326	.	.	ENSG00000187860	ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839	T;T;T;T	0.35421	1.64;1.64;1.32;1.31	5.52	-0.39	0.12450	.	0.057804	0.64402	D	0.000003	T	0.24431	0.0592	L	0.39397	1.21	0.80722	D	1	B	0.32693	0.38	B	0.34452	0.183	T	0.04140	-1.0974	10	0.22109	T	0.4	-32.4151	8.3686	0.32402	0.3311:0.1293:0.5396:0.0	.	96	Q569K6	CC157_HUMAN	D	96	ENSP00000385357:E96D;ENSP00000343087:E96D;ENSP00000387491:E96D;ENSP00000401837:E96D	ENSP00000343087:E96D	E	+	3	2	CCDC157	29095460	0.194000	0.23325	0.987000	0.45799	0.692000	0.40212	-0.015000	0.12634	0.063000	0.16370	0.462000	0.41574	GAG		0.627	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437	
SEC14L4	284904	broad.mit.edu	37	22	30888505	30888505	+	Missense_Mutation	SNP	G	G	A	rs145618105	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30888505G>A	ENST00000255858.7	-	8	703	c.620C>T	c.(619-621)tCg>tTg	p.S207L	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S192L|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S207L|SEC14L4_ENST00000392772.2_Missense_Mutation_p.S153L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	207	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.S207L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ACTCATGAACGACTTGACCAA	0.537													G|||	8	0.00159744	0.0061	0.0	5008	,	,		21357	0.0		0.0	False		,,,				2504	0.0				p.S207L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	22						.	G	LEU/SER,LEU/SER	29,4377	34.3+/-65.2	1,27,2175	131.0	92.0	106.0		620,620	3.8	0.5	22	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	145,145	1,28,6474	AA,AG,GG		0.0116,0.6582,0.2307	benign,benign	207/361,207/407	30888505	30,12976	2203	4300	6503	29218505	SO:0001583	missense	284904	exon8			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.620C>T	22.37:g.30888505G>A	ENSP00000255858:p.Ser207Leu		29218505	NM_001161368	A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	CCDS13878.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	14.89	2.671284	0.47781	0.006582	1.16E-4	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.93	3.78	0.43462	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.417696	0.25987	N	0.027037	T	0.15609	0.0376	L	0.60845	1.875	0.80722	D	1	B;B;B	0.16396	0.006;0.017;0.002	B;B;B	0.15484	0.013;0.008;0.009	T	0.13124	-1.0521	10	0.56958	D	0.05	6.3659	3.0631	0.06206	0.1131:0.1589:0.565:0.163	.	153;192;207	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	L	207;192;153;207	ENSP00000255858:S207L;ENSP00000440848:S192L;ENSP00000376525:S153L;ENSP00000371412:S207L	ENSP00000255858:S207L	S	-	2	0	SEC14L4	29218505	0.896000	0.30565	0.517000	0.27799	0.988000	0.76386	2.405000	0.44548	0.945000	0.37605	0.591000	0.81541	TCG		0.537	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977	
GAL3ST1	9514	broad.mit.edu	37	22	30951608	30951608	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:30951608G>A	ENST00000402321.1	-	3	921	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R202C|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R202C|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R202C|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R202C|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R202C|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R202C			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	202					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.R202C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGTAGTAGCGATCCGGGTCT	0.617																																					p.R202C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	22						.						76.0	67.0	70.0					22																	30951608		2202	4298	6500	29281608	SO:0001583	missense	9514	exon4			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.604C>T	22.37:g.30951608G>A	ENSP00000385735:p.Arg202Cys		29281608	NM_004861	Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209264	0.58343	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42;2.42	5.25	5.25	0.73442	.	0.502792	0.24083	N	0.041709	T	0.34978	0.0916	L	0.61218	1.895	0.58432	D	0.999997	D	0.76494	0.999	P	0.60682	0.878	T	0.03619	-1.1019	10	0.62326	D	0.03	-2.1162	13.3882	0.60807	0.0:0.0:0.8422:0.1578	.	202	Q99999	G3ST1_HUMAN	C	202;202;202;202;202;202;202;202;203;202	ENSP00000385825:R202C;ENSP00000385735:R202C;ENSP00000384122:R202C;ENSP00000384388:R202C;ENSP00000343234:R202C;ENSP00000385207:R202C;ENSP00000402587:R202C;ENSP00000390545:R202C;ENSP00000395080:R203C;ENSP00000405017:R202C	ENSP00000343234:R202C	R	-	1	0	GAL3ST1	29281608	0.999000	0.42202	0.959000	0.39883	0.880000	0.50808	3.176000	0.50863	2.457000	0.83068	0.484000	0.47621	CGC		0.617	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
MORC2	22880	broad.mit.edu	37	22	31332542	31332542	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:31332542T>C	ENST00000397641.3	-	17	2101	c.1693A>G	c.(1693-1695)Aca>Gca	p.T565A	MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Missense_Mutation_p.T503A			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	565						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T503A(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATTTTCTCTGTCAGTTGTTTC	0.527																																					p.T503A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1507G	22						.						195.0	167.0	176.0					22																	31332542		2203	4300	6503	29662542	SO:0001583	missense	22880	exon18			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1693A>G	22.37:g.31332542T>C	ENSP00000380763:p.Thr565Ala		29662542	NM_014941	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	T	10.25	1.298235	0.23650	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.11385	2.78;2.78	6.06	5.01	0.66863	.	0.198918	0.52532	D	0.000062	T	0.10165	0.0249	L	0.49350	1.555	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09292	-1.0681	10	0.09590	T	0.72	.	10.9399	0.47268	0.2493:0.0:0.0:0.7507	.	565	Q9Y6X9	MORC2_HUMAN	A	565;503	ENSP00000380763:T565A;ENSP00000215862:T503A	ENSP00000215862:T503A	T	-	1	0	MORC2	29662542	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.464000	0.35288	1.068000	0.40764	0.533000	0.62120	ACA		0.527	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
LIMK2	3985	broad.mit.edu	37	22	31663018	31663018	+	Nonsense_Mutation	SNP	C	C	T	rs114127458		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:31663018C>T	ENST00000331728.4	+	9	1204	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	LIMK2_ENST00000340552.4_Nonsense_Mutation_p.R343*|LIMK2_ENST00000444929.2_Nonsense_Mutation_p.R118*|LIMK2_ENST00000333611.4_Nonsense_Mutation_p.R343*|LIMK2_ENST00000406516.1_Nonsense_Mutation_p.R286*	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	364	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R364*(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAGTTAATTCGATGTGATGA	0.493																																					p.R364X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1090T	22						.						77.0	63.0	68.0					22																	31663018		2203	4300	6503	29993018	SO:0001587	stop_gained	3985	exon9			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1090C>T	22.37:g.31663018C>T	ENSP00000332687:p.Arg364*		29993018	NM_005569	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Nonsense_Mutation	SNP	ENST00000331728.4	37	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	39	7.766604	0.98477	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	.	.	.	5.76	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.943	13.8451	0.63463	0.0:0.927:0.0:0.073	.	.	.	.	X	286;118;364;396;343;343	.	ENSP00000332687:R364X	R	+	1	2	LIMK2	29993018	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.487000	0.81328	1.444000	0.47605	0.650000	0.86243	CGA		0.493	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
PATZ1	23598	broad.mit.edu	37	22	31723166	31723166	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:31723166A>G	ENST00000266269.5	-	5	2404	c.1775T>C	c.(1774-1776)gTc>gCc	p.V592A	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.V546A	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	592					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V592A(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTTTTTGGGGACTGCCATGTC	0.512																																					p.V546A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1637C	22						.						128.0	130.0	129.0					22																	31723166		2203	4300	6503	30053166	SO:0001583	missense	23598	exon4			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1775T>C	22.37:g.31723166A>G	ENSP00000266269:p.Val592Ala		30053166	NM_032050	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240329	0.58995	.	.	ENSG00000100105	ENST00000266269;ENST00000351933	T;T	0.10099	2.91;3.03	5.8	5.8	0.92144	.	0.234528	0.36268	N	0.002693	T	0.08492	0.0211	N	0.14661	0.345	0.80722	D	1	B;B	0.31817	0.341;0.177	B;B	0.30646	0.118;0.053	T	0.21759	-1.0236	10	0.87932	D	0	-19.3936	15.3242	0.74147	1.0:0.0:0.0:0.0	.	546;592	Q9HBE1-3;Q9HBE1	.;PATZ1_HUMAN	A	592;546	ENSP00000266269:V592A;ENSP00000337520:V546A	ENSP00000266269:V592A	V	-	2	0	PATZ1	30053166	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	3.374000	0.52402	2.206000	0.71126	0.528000	0.53228	GTC		0.512	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052	
SFI1	9814	broad.mit.edu	37	22	31927078	31927078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:31927078C>T	ENST00000400288.2	+	4	406	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SFI1_ENST00000400289.1_Intron|SFI1_ENST00000432498.1_Nonsense_Mutation_p.R101*|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	101					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R101*(2)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTATGGATTCGAATGACTTT	0.323																																					p.R101X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C301T	22						.						120.0	112.0	115.0					22																	31927078		1830	4079	5909	30257078	SO:0001587	stop_gained	9814	exon4			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.301C>T	22.37:g.31927078C>T	ENSP00000383145:p.Arg101*		30257078	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976926	0.53720	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	.	.	.	4.26	3.15	0.36227	.	0.274240	0.27151	N	0.020686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.831	0.35085	0.2239:0.7761:0.0:0.0	.	.	.	.	X	101;101;52	.	ENSP00000383145:R101X	R	+	1	2	SFI1	30257078	0.920000	0.31207	1.000000	0.80357	0.976000	0.68499	1.841000	0.39240	2.377000	0.81083	0.442000	0.29010	CGA		0.323	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
PISD	23761	broad.mit.edu	37	22	32015711	32015711	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32015711C>T	ENST00000439502.2	-	8	1340	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	PISD_ENST00000266095.5_Missense_Mutation_p.E339K|PISD_ENST00000382151.2_Missense_Mutation_p.E339K|PISD_ENST00000478893.1_5'Flank|PISD_ENST00000336566.4_Missense_Mutation_p.E372K|PISD_ENST00000397500.1_3'UTR			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	373					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.E339K(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	AGGTTGAACTCGCCCAGGTGC	0.562																																					p.E339K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1015A	22						.						129.0	109.0	116.0					22																	32015711		2203	4300	6503	30345711	SO:0001583	missense	23761	exon9				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1117G>A	22.37:g.32015711C>T	ENSP00000391739:p.Glu373Lys		30345711	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	C	26.3	4.722565	0.89298	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000439502;ENST00000336566	.	.	.	5.29	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.79011	2.435	0.80722	D	1	D;D;P	0.71674	0.998;0.978;0.56	D;P;P	0.69824	0.966;0.833;0.474	T	0.76266	-0.3022	9	0.34782	T	0.22	-26.6751	12.903	0.58135	0.0:0.9214:0.0:0.0786	.	325;373;339	B1AJZ0;Q9UG56;Q9UG56-2	.;PISD_HUMAN;.	K	339;339;373;372	.	ENSP00000266095:E339K	E	-	1	0	PISD	30345711	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.480000	0.81109	1.227000	0.43598	0.591000	0.81541	GAG		0.562	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
DEPDC5	9681	broad.mit.edu	37	22	32188763	32188763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32188763C>T	ENST00000382112.3	+	11	797	c.727C>T	c.(727-729)Cga>Tga	p.R243*	DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.R215*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.R243*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	243					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R243*(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCCTCAATTCGACAGGATCA	0.353																																					p.R243X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C727T	22						.						130.0	122.0	124.0					22																	32188763		1804	4082	5886	30518763	SO:0001587	stop_gained	9681	exon12			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.727C>T	22.37:g.32188763C>T	ENSP00000371546:p.Arg243*		30518763	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	38	6.701398	0.97772	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.29	1.87	0.25490	.	0.117813	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.4713	0.61283	0.6194:0.3806:0.0:0.0	.	.	.	.	X	243;215;243;243;243;243;243;243;243;243;243	.	ENSP00000266091:R243X	R	+	1	2	DEPDC5	30518763	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	1.746000	0.38288	0.154000	0.19237	0.567000	0.79289	CGA		0.353	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	C	T	rs368563183		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F601F(3)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542																																					p.F601F												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C1803T	22						.	C	,,,	0,4122		0,0,2061	141.0	141.0	141.0		1803,1803,1803,1803	-5.4	0.8	22		141	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	,,,	601/1595,601/1604,601/1504,601/1573	32215144	1,12541	2061	4210	6271	30545144	SO:0001819	synonymous_variant	9681	exon22			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1803C>T	22.37:g.32215144C>T			30545144	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	CCDS46692.1																																																																																				0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
DEPDC5	9681	broad.mit.edu	37	22	32218747	32218747	+	Missense_Mutation	SNP	C	C	A	rs199783404	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32218747C>A	ENST00000382112.3	+	23	2145	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S692Y|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S692Y|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S692Y|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S692Y|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S692Y	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	692					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.S692F(1)|p.S692Y(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGGAGCTTTCTGTCGGCCTG	0.527																																					p.S692Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2075A	22						.						79.0	77.0	77.0					22																	32218747		1972	4162	6134	30548747	SO:0001583	missense	9681	exon24			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2075C>A	22.37:g.32218747C>A	ENSP00000371546:p.Ser692Tyr		30548747	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096108|4.096108	0.76870|0.76870	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T	.|0.26957	.|1.85;1.7;1.84;1.71;1.84;1.7	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.416827	.|0.29119	.|N	.|0.013100	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.52692	.|0.936;0.874;0.955;0.681;0.681	.|P;B;P;B;B	.|0.53102	.|0.718;0.322;0.542;0.254;0.34	T|T	0.06679|0.06679	-1.0813|-1.0813	5|10	.|0.66056	.|D	.|0.02	.|.	16.1893|16.1893	0.81975|0.81975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|13;692;692;692;692	.|B4DSS1;B9EGN9;O75140-4;A8MPX9;O75140	.|.;.;.;.;DEPD5_HUMAN	L|Y	89|692	.|ENSP00000266091:S692Y;ENSP00000383108:S692Y;ENSP00000383105:S692Y;ENSP00000371546:S692Y;ENSP00000371545:S692Y;ENSP00000383107:S692Y	.|ENSP00000266091:S692Y	F|S	+|+	3|2	2|0	DEPDC5|DEPDC5	30548747|30548747	0.840000|0.840000	0.29493|0.29493	0.975000|0.975000	0.42487|0.42487	0.937000|0.937000	0.57800|0.57800	2.772000|2.772000	0.47678|0.47678	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.527	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
RFPL2	10739	broad.mit.edu	37	22	32586963	32586963	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32586963A>C	ENST00000400237.1	-	5	1868	c.933T>G	c.(931-933)gaT>gaG	p.D311E	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.D221E|RFPL2_ENST00000400236.3_Missense_Mutation_p.D221E|RFPL2_ENST00000248980.4_Missense_Mutation_p.D250E			O75678	RFPL2_HUMAN	ret finger protein-like 2	311	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D221E(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCATGCCCATATCCAGAAAAA	0.517																																					p.D221E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T663G	22						.						40.0	57.0	52.0					22																	32586963		2203	4297	6500	30916963	SO:0001583	missense	10739	exon4			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.933T>G	22.37:g.32586963A>C	ENSP00000383096:p.Asp311Glu		30916963	NM_001159545		Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685909	0.47991	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	0.351	0.351	0.16042	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.89870	0.6840	M	0.93550	3.43	0.21064	N	0.999791	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.77587	-0.2532	9	0.87932	D	0	.	5.016	0.14337	0.9998:0.0:2.0E-4:0.0	.	311;250	O75678;O75678-3	RFPL2_HUMAN;.	E	250;221;221;311	ENSP00000248980:D250E;ENSP00000248983:D221E;ENSP00000383095:D221E;ENSP00000383096:D311E	ENSP00000248980:D250E	D	-	3	2	RFPL2	30916963	0.176000	0.23096	0.287000	0.24848	0.283000	0.27025	1.609000	0.36858	0.338000	0.23692	0.332000	0.21555	GAT		0.517	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605	
BPIFC	254240	broad.mit.edu	37	22	32831742	32831742	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32831742G>T	ENST00000397452.1	-	9	983	c.873C>A	c.(871-873)tcC>tcA	p.S291S	BPIFC_ENST00000300399.3_Silent_p.S291S|BPIFC_ENST00000432451.2_Silent_p.S105S|BPIFC_ENST00000534972.1_Silent_p.S15S			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	291						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.S291S(1)									AATGAGCAAAGGACGCAGATT	0.488																																					p.S291S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873A	22						.						79.0	80.0	80.0					22																	32831742		2203	4300	6503	31161742	SO:0001819	synonymous_variant	254240	exon8			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.873C>A	22.37:g.32831742G>T			31161742	NM_174932	A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																				0.488	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
BPIFC	254240	broad.mit.edu	37	22	32841835	32841835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32841835C>A	ENST00000397452.1	-	5	633	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	BPIFC_ENST00000300399.3_Nonsense_Mutation_p.E175*|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	175						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.E175*(1)									CACCTGAGTTCTCCGGAAAAT	0.512																																					p.E175X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G523T	22						.						59.0	56.0	57.0					22																	32841835		2203	4300	6503	31171835	SO:0001587	stop_gained	254240	exon4			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.523G>T	22.37:g.32841835C>A	ENSP00000380594:p.Glu175*		31171835	NM_174932	A2RRF1	Nonsense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	37	6.092962	0.97276	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	.	.	.	5.6	2.19	0.27852	.	0.333371	0.33127	N	0.005260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.187	6.4602	0.21952	0.0:0.6664:0.1619:0.1717	.	.	.	.	X	175	.	ENSP00000300399:E175X	E	-	1	0	BPIFC	31171835	0.976000	0.34144	0.527000	0.27925	0.881000	0.50899	0.870000	0.28010	0.676000	0.31285	0.650000	0.86243	GAA		0.512	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
FBXO7	25793	broad.mit.edu	37	22	32894280	32894280	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:32894280C>T	ENST00000266087.7	+	9	1659	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	FBXO7_ENST00000382058.3_Silent_p.I365I|FBXO7_ENST00000397426.1_Silent_p.I330I	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	444	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.I444I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAATTATCGGGGGTGAAT	0.532																																					p.I365I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1095T	22						.						137.0	133.0	134.0					22																	32894280		2203	4300	6503	31224280	SO:0001819	synonymous_variant	25793	exon9			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1332C>T	22.37:g.32894280C>T			31224280	NM_001033024	B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	ENST00000266087.7	37	CCDS13907.1																																																																																				0.532	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1		
TIMP3	7078	broad.mit.edu	37	22	33255356	33255356	+	Missense_Mutation	SNP	G	G	T	rs1804709		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:33255356G>T	ENST00000266085.6	+	5	929	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	210					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.D210Y(1)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CAATGCCACAGACCCCTGAGC	0.577																																					p.D210Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628T	22						.						46.0	37.0	40.0					22																	33255356		2203	4300	6503	31585356	SO:0001583	missense	7078	exon5				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.628G>T	22.37:g.33255356G>T	ENSP00000266085:p.Asp210Tyr		31585356	NM_000362	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	ENST00000266085.6	37	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192152	0.58017	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.95980	-3.87	3.91	3.91	0.45181	.	0.194271	0.46442	D	0.000300	D	0.97448	0.9165	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.98366	1.0551	10	0.87932	D	0	-15.5028	16.1096	0.81250	0.0:0.0:1.0:0.0	rs1804709	210	P35625	TIMP3_HUMAN	Y	210;144	ENSP00000266085:D210Y	ENSP00000266085:D210Y	D	+	1	0	TIMP3	31585356	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.648000	0.98483	2.019000	0.59389	0.561000	0.74099	GAC		0.577	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362	
LARGE	9215	broad.mit.edu	37	22	33733727	33733727	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:33733727G>A	ENST00000354992.2	-	11	1763	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	LARGE_ENST00000437602.2_Missense_Mutation_p.R398C|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Missense_Mutation_p.R197C|LARGE_ENST00000397394.2_Missense_Mutation_p.R398C|LARGE_ENST00000337431.2_Intron	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	398					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R398C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TAGAGGTTGCGAAAAAACTCC	0.527																																					p.R398C	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1192T	22						.						97.0	85.0	89.0					22																	33733727		2203	4300	6503	32063727	SO:0001583	missense	9215	exon10			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1192C>T	22.37:g.33733727G>A	ENSP00000347088:p.Arg398Cys		32063727	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084878	0.55861	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000397394;ENST00000452586;ENST00000437602	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.22	4.21	0.49690	.	0.052159	0.85682	D	0.000000	T	0.52240	0.1722	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.98;0.988	T	0.59284	-0.7483	10	0.87932	D	0	-1.2839	13.7369	0.62824	0.074:0.0:0.926:0.0	.	398;197;398	B7Z2I9;E9PH73;O95461	.;.;LARGE_HUMAN	C	75;75;75;398;398;197;398	ENSP00000347088:R398C;ENSP00000380549:R398C;ENSP00000407917:R197C;ENSP00000388544:R398C	ENSP00000347088:R398C	R	-	1	0	LARGE	32063727	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	3.889000	0.56212	1.209000	0.43321	-0.136000	0.14681	CGC		0.527	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
HMGXB4	10042	broad.mit.edu	37	22	35661203	35661203	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:35661203C>T	ENST00000216106.5	+	5	950	c.822C>T	c.(820-822)ttC>ttT	p.F274F	HMGXB4_ENST00000444518.2_Silent_p.F165F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	274					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)	p.F274F(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCCAGTTCGCAGAGTCCC	0.522																																					p.F274F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	22						.						75.0	73.0	73.0					22																	35661203		2203	4300	6503	33991203	SO:0001819	synonymous_variant	10042	exon5			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.822C>T	22.37:g.35661203C>T			33991203	NM_001003681	O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	CCDS33641.1																																																																																				0.522	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487	
MCM5	4174	broad.mit.edu	37	22	35812760	35812760	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:35812760G>A	ENST00000216122.4	+	12	1697	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	MCM5_ENST00000382011.5_Missense_Mutation_p.D472N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	515	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.D515N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCGCGCTTCGACATGATCTT	0.597																																					p.D515N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1543A	22						.						138.0	108.0	118.0					22																	35812760		2203	4300	6503	34142760	SO:0001583	missense	4174	exon12				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1543G>A	22.37:g.35812760G>A	ENSP00000216122:p.Asp515Asn		34142760	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069615	0.93950	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.18174	2.23;2.23	5.77	5.77	0.91146	.	0.043472	0.85682	D	0.000000	T	0.66177	0.2763	H	0.99874	4.875	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.67548	0.952;0.952;0.952;0.952	T	0.83247	-0.0055	10	0.87932	D	0	-29.443	20.0628	0.97684	0.0:0.0:1.0:0.0	.	515;515;472;515	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	N	515;472	ENSP00000216122:D515N;ENSP00000371441:D472N	ENSP00000216122:D515N	D	+	1	0	MCM5	34142760	1.000000	0.71417	0.990000	0.47175	0.475000	0.33008	9.691000	0.98679	2.741000	0.93983	0.650000	0.86243	GAC		0.597	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
MCM5	4174	broad.mit.edu	37	22	35819257	35819257	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:35819257G>A	ENST00000216122.4	+	16	2180	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	MCM5_ENST00000382011.5_Missense_Mutation_p.E633K	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	676					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E676K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCCGCATCGAGAAGCAGCT	0.617																																					p.E676K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2026A	22						.						84.0	68.0	74.0					22																	35819257		2203	4300	6503	34149257	SO:0001583	missense	4174	exon16				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.2026G>A	22.37:g.35819257G>A	ENSP00000216122:p.Glu676Lys		34149257	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	CCDS13915.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843003|4.843003	0.91197|0.91197	.|.	.|.	ENSG00000100297|ENSG00000100297	ENST00000216122;ENST00000382011|ENST00000444582	T;T|.	0.03860|.	4.1;3.78|.	4.55|4.55	3.51|3.51	0.40186|0.40186	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85944|0.85944	0.5815|0.5815	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.90131|0.90131	0.4206|0.4206	10|6	0.87932|0.72032	D|D	0|0.01	-37.4913|-37.4913	14.5473|14.5473	0.68041|0.68041	0.0:0.1472:0.8528:0.0|0.0:0.1472:0.8528:0.0	.|.	676;633;676|.	B1AHB0;B1AHB1;P33992|.	.;.;MCM5_HUMAN|.	K|Q	676;633|360	ENSP00000216122:E676K;ENSP00000371441:E633K|.	ENSP00000216122:E676K|ENSP00000397217:R360Q	E|R	+|+	1|2	0|0	MCM5|MCM5	34149257|34149257	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	8.528000|8.528000	0.90598|0.90598	1.109000|1.109000	0.41680|0.41680	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.617	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
APOL5	80831	broad.mit.edu	37	22	36122298	36122298	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:36122298T>C	ENST00000249044.2	+	3	183	c.183T>C	c.(181-183)aaT>aaC	p.N61N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	61					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)	p.N61N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AAATTAACAATTTGATGTCAA	0.453																																					p.N61N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T183C	22						.						122.0	110.0	114.0					22																	36122298		2203	4300	6503	34452244	SO:0001819	synonymous_variant	80831	exon3			AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.183T>C	22.37:g.36122298T>C			34452244	NM_030642	Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	CCDS13920.1																																																																																				0.453	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642	
APOL2	23780	broad.mit.edu	37	22	36627418	36627418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:36627418C>T	ENST00000249066.6	-	5	581	c.105G>A	c.(103-105)tgG>tgA	p.W35*	APOL2_ENST00000451256.2_Nonsense_Mutation_p.W147*|APOL2_ENST00000358502.5_Nonsense_Mutation_p.W35*	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	35					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)	p.W35*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						CGAATCCATTCCAGGCTTCAT	0.512																																					p.W35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G105A	22						.						75.0	77.0	77.0					22																	36627418		2203	4300	6503	34957364	SO:0001587	stop_gained	23780	exon4			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.105G>A	22.37:g.36627418C>T	ENSP00000249066:p.Trp35*		34957364	NM_030882	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Nonsense_Mutation	SNP	ENST00000249066.6	37	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991418	0.54041	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256;ENST00000529194;ENST00000454728	.	.	.	3.8	3.8	0.43715	.	0.489529	0.19362	N	0.116120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4907	0.50379	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;147;35;35	.	ENSP00000249066:W35X	W	-	3	0	APOL2	34957364	0.004000	0.15560	0.183000	0.23137	0.006000	0.05464	1.045000	0.30341	1.817000	0.53016	0.411000	0.27672	TGG		0.512	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637	
MYH9	4627	broad.mit.edu	37	22	36684378	36684378	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:36684378C>A	ENST00000216181.5	-	34	5082	c.4852G>T	c.(4852-4854)Gac>Tac	p.D1618Y	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1618					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.D1618Y(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTTCAGGTCCATCTCCAGC	0.632			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.D1618Y			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4852T	22						.						114.0	92.0	99.0					22																	36684378		2203	4300	6503	35014324	SO:0001583	missense	4627	exon34	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4852G>T	22.37:g.36684378C>A	ENSP00000216181:p.Asp1618Tyr		35014324	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722745	0.89298	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.85629	-2.01	5.5	4.47	0.54385	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95523	0.8596	10	0.87932	D	0	.	15.0008	0.71469	0.0:0.9309:0.0:0.0691	.	1618	P35579	MYH9_HUMAN	Y	1040;220;1618	ENSP00000216181:D1618Y	ENSP00000216181:D1618Y	D	-	1	0	MYH9	35014324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	1.442000	0.47568	0.655000	0.94253	GAC		0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
MYH9	4627	broad.mit.edu	37	22	36689510	36689510	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:36689510C>A	ENST00000216181.5	-	30	4190	c.3960G>T	c.(3958-3960)gaG>gaT	p.E1320D		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1320					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E1320D(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTGCCGGTTCTCCTCCTGCA	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.E1320D			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3960T	22						.						90.0	84.0	86.0					22																	36689510		2203	4300	6503	35019456	SO:0001583	missense	4627	exon30	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3960G>T	22.37:g.36689510C>A	ENSP00000216181:p.Glu1320Asp		35019456	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168118	0.78339	.	.	ENSG00000100345	ENST00000216181	D	0.89485	-2.52	4.98	4.98	0.66077	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.89353	3.025	0.80722	D	1	D	0.59357	0.985	D	0.63381	0.914	D	0.94196	0.7445	10	0.87932	D	0	.	9.4288	0.38597	0.0:0.8415:0.0:0.1585	.	1320	P35579	MYH9_HUMAN	D	1320	ENSP00000216181:E1320D	ENSP00000216181:E1320D	E	-	3	2	MYH9	35019456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.771000	0.55318	2.454000	0.82982	0.561000	0.74099	GAG		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
CACNG2	10369	broad.mit.edu	37	22	36962445	36962445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:36962445G>A	ENST00000300105.6	-	3	1372	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	131					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R131*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						ATGTTGTGTCGAGTTTTGTAG	0.562																																					p.R131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C391T	22						.						109.0	102.0	104.0					22																	36962445		2203	4300	6503	35292391	SO:0001587	stop_gained	10369	exon3			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.391C>T	22.37:g.36962445G>A	ENSP00000300105:p.Arg131*		35292391	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Nonsense_Mutation	SNP	ENST00000300105.6	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	45	11.914536	0.99617	.	.	ENSG00000166862	ENST00000300105	.	.	.	4.79	4.79	0.61399	.	0.140129	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1808	18.2288	0.89927	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000300105:R131X	R	-	1	2	CACNG2	35292391	1.000000	0.71417	0.988000	0.46212	0.968000	0.65278	9.476000	0.97823	2.377000	0.81083	0.557000	0.71058	CGA		0.562	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
CACNG2	10369	broad.mit.edu	37	22	37098606	37098606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:37098606G>A	ENST00000300105.6	-	1	997	c.16C>T	c.(16-18)Cga>Tga	p.R6*	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R6*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGAACACCTCGATCAAACAGC	0.468																																					p.R6X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C16T	22						.						104.0	98.0	100.0					22																	37098606		2203	4300	6503	35428552	SO:0001587	stop_gained	10369	exon1			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.16C>T	22.37:g.37098606G>A	ENSP00000300105:p.Arg6*		35428552	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Nonsense_Mutation	SNP	ENST00000300105.6	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	g	46	12.212487	0.99647	.	.	ENSG00000166862	ENST00000300105	.	.	.	4.77	3.71	0.42584	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8246	11.8841	0.52592	0.0:0.0:0.689:0.311	.	.	.	.	X	6	.	ENSP00000300105:R6X	R	-	1	2	CACNG2	35428552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.780000	0.55386	2.180000	0.69256	0.546000	0.68486	CGA		0.468	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
TMPRSS6	164656	broad.mit.edu	37	22	37499285	37499285	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:37499285G>A	ENST00000346753.3	-	2	316	c.200C>T	c.(199-201)tCg>tTg	p.S67L	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S58L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.S67L|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S58L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S58L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	67					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.S67L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACCCCCGCCGAAGCCAGCAC	0.627																																					p.S67L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C200T	22						.						51.0	53.0	52.0					22																	37499285		2203	4300	6503	35829231	SO:0001583	missense	164656	exon2			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.200C>T	22.37:g.37499285G>A	ENSP00000334962:p.Ser67Leu		35829231	NM_153609	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344171	0.01277	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91351	-2.83;-2.82;-2.83;-2.83;-0.79;-2.4	4.39	1.05	0.20165	.	0.286415	0.28927	N	0.013696	D	0.84388	0.5461	L	0.51422	1.61	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.71454	-0.4588	10	0.33940	T	0.23	.	7.0854	0.25254	0.3083:0.0:0.6917:0.0	.	67;58;67	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	L	58;67;58;58;67;58	ENSP00000371211:S58L;ENSP00000334962:S67L;ENSP00000385453:S58L;ENSP00000384964:S58L;ENSP00000397691:S67L;ENSP00000400317:S58L	ENSP00000334962:S67L	S	-	2	0	TMPRSS6	35829231	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.794000	0.26958	0.327000	0.23409	-0.272000	0.10252	TCG		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
C1QTNF6	114904	broad.mit.edu	37	22	37578569	37578569	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:37578569C>T	ENST00000337843.2	-	3	571	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	147	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.E166K(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622																																					p.E166K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	22						.						60.0	62.0	61.0					22																	37578569		2203	4300	6503	35908515	SO:0001583	missense	114904	exon3			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.496G>A	22.37:g.37578569C>T	ENSP00000338812:p.Glu166Lys		35908515	NM_182486	Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380130	0.61845	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.21191	2.02;2.02;2.02	5.14	5.14	0.70334	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.052099	0.85682	D	0.000000	T	0.16557	0.0398	N	0.11927	0.2	0.47547	D	0.999458	P;P	0.42973	0.74;0.796	B;B	0.41135	0.348;0.294	T	0.07539	-1.0767	10	0.87932	D	0	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	166;147	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	K	166;166;42	ENSP00000380299:E166K;ENSP00000338812:E166K;ENSP00000255836:E42K	ENSP00000255836:E42K	E	-	1	0	C1QTNF6	35908515	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	7.818000	0.86416	2.393000	0.81446	0.555000	0.69702	GAA		0.622	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486	
PDXP	57026	broad.mit.edu	37	22	38061644	38061644	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38061644C>T	ENST00000215904.6	+	2	713	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SH3BP1_ENST00000599616.1_Silent_p.F528F|PDXP_ENST00000403251.1_Silent_p.F2F	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	219					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)	p.F219F(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CCTACATGTTCGAGTGCATCA	0.652																																					p.F219F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657T	22						.						94.0	81.0	85.0					22																	38061644		2203	4300	6503	36391590	SO:0001819	synonymous_variant	23616	exon2			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.657C>T	22.37:g.38061644C>T			36391590	NM_020315	Q9UGY2	Silent	SNP	ENST00000215904.6	37	CCDS13953.1																																																																																				0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104105.2	NM_020315	
TRIOBP	11078	broad.mit.edu	37	22	38121768	38121768	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38121768G>T	ENST00000406386.3	+	7	3460	c.3205G>T	c.(3205-3207)Gat>Tat	p.D1069Y		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1069					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.D1069Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGACACCGAGATGCCCCCCG	0.652																																					p.D1069Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3205T	22						.						51.0	57.0	55.0					22																	38121768		1871	4078	5949	36451714	SO:0001583	missense	11078	exon7			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3205G>T	22.37:g.38121768G>T	ENSP00000384312:p.Asp1069Tyr		36451714	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603883	0.46423	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.39592	1.07	4.67	4.67	0.58626	.	.	.	.	.	T	0.52933	0.1765	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51911	-0.8645	9	0.51188	T	0.08	.	12.9924	0.58627	0.0:0.0:1.0:0.0	.	1069	Q9H2D6	TARA_HUMAN	Y	1069	ENSP00000384312:D1069Y	ENSP00000384312:D1069Y	D	+	1	0	TRIOBP	36451714	0.996000	0.38824	0.979000	0.43373	0.362000	0.29581	3.084000	0.50143	2.426000	0.82243	0.449000	0.29647	GAT		0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TRIOBP	11078	broad.mit.edu	37	22	38150918	38150918	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38150918C>T	ENST00000406386.3	+	13	5669	c.5414C>T	c.(5413-5415)tCg>tTg	p.S1805L	TRIOBP_ENST00000407319.2_Missense_Mutation_p.S92L|TRIOBP_ENST00000403663.2_Missense_Mutation_p.S92L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1805	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S1805L(1)|p.S92L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCTCTACTTCGCAGTGGAAG	0.517																																					p.S1805L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5414T	22						.						173.0	131.0	145.0					22																	38150918		2203	4300	6503	36480864	SO:0001583	missense	11078	exon13			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5414C>T	22.37:g.38150918C>T	ENSP00000384312:p.Ser1805Leu		36480864	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633413	0.29068	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.98	2.86	0.33363	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.49184	0.1542	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15473	0.001;0.002;0.013	B;B;B	0.14578	0.001;0.002;0.011	T	0.39502	-0.9611	9	0.45353	T	0.12	.	6.3865	0.21563	0.0:0.6061:0.134:0.2598	.	92;92;1805	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	L	1805;92;92;51;21;21	ENSP00000384312:S1805L;ENSP00000383913:S92L;ENSP00000386026:S92L;ENSP00000396946:S51L;ENSP00000407542:S21L;ENSP00000387881:S21L	ENSP00000386026:S92L	S	+	2	0	TRIOBP	36480864	0.000000	0.05858	0.011000	0.14972	0.179000	0.23085	0.075000	0.14686	1.090000	0.41315	0.655000	0.94253	TCG		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
C22orf23	84645	broad.mit.edu	37	22	38343425	38343425	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38343425C>A	ENST00000249079.2	-	4	468	c.212G>T	c.(211-213)aGa>aTa	p.R71I	C22orf23_ENST00000403026.1_Missense_Mutation_p.R71I|C22orf23_ENST00000403305.1_Missense_Mutation_p.R71I			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	71								p.R71I(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGGTAAGACTCTCTGGCTGGA	0.557																																					p.R71I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G212T	22						.						117.0	102.0	107.0					22																	38343425		2203	4300	6503	36673371	SO:0001583	missense	84645	exon4			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.212G>T	22.37:g.38343425C>A	ENSP00000249079:p.Arg71Ile		36673371	NM_032561	Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775117	0.49786	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.38	3.07	0.35406	.	0.630831	0.15901	N	0.239100	T	0.31575	0.0801	L	0.55103	1.725	0.39278	D	0.964511	P	0.45634	0.863	B	0.38378	0.272	T	0.33007	-0.9885	10	0.62326	D	0.03	-6.0969	3.0052	0.06026	0.0:0.4969:0.3013:0.2018	.	71	Q9BZE7	EVG1_HUMAN	I	71	ENSP00000384667:R71I;ENSP00000249079:R71I;ENSP00000384618:R71I;ENSP00000395077:R71I;ENSP00000407707:R71I	ENSP00000249079:R71I	R	-	2	0	C22orf23	36673371	0.091000	0.21658	0.735000	0.30896	0.691000	0.40173	0.554000	0.23407	1.215000	0.43411	0.555000	0.69702	AGA		0.557	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561	
PLA2G6	8398	broad.mit.edu	37	22	38516880	38516880	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38516880C>T	ENST00000332509.3	-	12	1811	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	PLA2G6_ENST00000335539.3_Missense_Mutation_p.R489H|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R489H|PLA2G6_ENST00000490473.1_5'Flank	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	543	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.R543H(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATCCTTCATGCGAAAGTACAT	0.617																																					p.R489H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	22						.						86.0	88.0	87.0					22																	38516880		2203	4300	6503	36846826	SO:0001583	missense	8398	exon11			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1628G>A	22.37:g.38516880C>T	ENSP00000333142:p.Arg543His		36846826	NM_001199562	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378566	0.82682	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78003	-1.14;-1.14;-1.14	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.207337	0.49305	D	0.000145	D	0.88771	0.6527	M	0.77406	2.37	0.80722	D	1	D;B	0.89917	1.0;0.335	D;B	0.87578	0.998;0.24	D	0.89463	0.3738	10	0.66056	D	0.02	-33.0529	19.3415	0.94344	0.0:1.0:0.0:0.0	.	489;543	O60733-2;O60733	.;PA2G6_HUMAN	H	543;404;489;489	ENSP00000333142:R543H;ENSP00000335149:R489H;ENSP00000386100:R489H	ENSP00000333142:R543H	R	-	2	0	PLA2G6	36846826	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.073000	0.76784	2.560000	0.86352	0.555000	0.69702	CGC		0.617	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
CSNK1E	1454	broad.mit.edu	37	22	38694791	38694791	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:38694791G>A	ENST00000396832.1	-	7	1145	c.885C>T	c.(883-885)ttC>ttT	p.F295F	CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000405675.3_Splice_Site_p.F295F|CSNK1E_ENST00000400206.2_Splice_Site_p.F295F|CSNK1E_ENST00000359867.3_Splice_Site_p.F295F|CSNK1E_ENST00000403904.1_Splice_Site_p.F295F|CSNK1E_ENST00000413574.2_Splice_Site_p.F295F	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	295					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F295F(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGTGACTCACGAATTTCAGCA	0.602											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F295F	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)											.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C885T	22						.						106.0	105.0	105.0					22																	38694791		2203	4300	6503	37024737	SO:0001630	splice_region_variant	1454	exon7				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.885+1C>T	22.37:g.38694791G>A		880	37024737	NM_001894		Silent	SNP	ENST00000396832.1	37	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.56|15.56	2.868564|2.868564	0.51588|0.51588	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000451964	.|.	.|.	.|.	5.14|5.14	4.12|4.12	0.48240|0.48240	.|.	.|.	.|.	.|.	.|.	T|T	0.55369|0.55369	0.1916|0.1916	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52079|0.52079	-0.8623|-0.8623	4|4	.|.	.|.	.|.	.|.	6.2469|6.2469	0.20823|0.20823	0.3229:0.0:0.6771:0.0|0.3229:0.0:0.6771:0.0	.|.	.|.	.|.	.|.	W|L	23|233	.|.	.|.	R|S	-|-	1|2	2|0	CSNK1E|CSNK1E	37024737|37024737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.806000|3.806000	0.55583|0.55583	1.167000|1.167000	0.42706|0.42706	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.602	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894	Silent
TOMM22	56993	broad.mit.edu	37	22	39078348	39078348	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39078348G>T	ENST00000216034.4	+	2	169	c.138G>T	c.(136-138)gaG>gaT	p.E46D	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	46	Import sequence; necessary for mitochondrion outer membrane localization and integration in the TOM complex. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.E46D(1)		large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					CCCTGTCGGAGAGACTATGGG	0.597																																					p.E46D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	22						.						42.0	45.0	44.0					22																	39078348		2203	4300	6503	37408294	SO:0001583	missense	56993	exon2			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.138G>T	22.37:g.39078348G>T	ENSP00000216034:p.Glu46Asp		37408294	NM_020243		Missense_Mutation	SNP	ENST00000216034.4	37	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093600	0.94149	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.4	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80108	-0.1520	9	0.45353	T	0.12	-20.9465	11.8792	0.52564	0.144:0.0:0.856:0.0	.	46	Q9NS69	TOM22_HUMAN	D	46	.	ENSP00000216034:E46D	E	+	3	2	TOMM22	37408294	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.074000	0.57577	1.269000	0.44280	0.563000	0.77884	GAG		0.597	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1		
APOBEC3D	140564	broad.mit.edu	37	22	39421629	39421629	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39421629C>T	ENST00000216099.8	+	4	965	c.558C>T	c.(556-558)ttC>ttT	p.F186F	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.F186F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	186					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.F186F(1)|p.F255F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.512																																					p.F186F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C558T	22						.						333.0	289.0	304.0					22																	39421629		2203	4300	6503	37751575	SO:0001819	synonymous_variant	140564	exon4			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.558C>T	22.37:g.39421629C>T			37751575	NM_152426	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	CCDS46709.1																																																																																				0.512	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426	
APOBEC3F	200316	broad.mit.edu	37	22	39445500	39445500	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39445500C>T	ENST00000308521.5	+	5	994	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	213					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R213W(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AGCCTATGGTCGGAACGAAAG	0.488																																					p.R213W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637T	22						.						151.0	137.0	142.0					22																	39445500		2203	4300	6503	37775446	SO:0001583	missense	200316	exon5			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.637C>T	22.37:g.39445500C>T	ENSP00000309749:p.Arg213Trp		37775446	NM_145298	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.692785	0.30052	.	.	ENSG00000128394	ENST00000308521	T	0.74421	-0.84	1.75	-0.824	0.10812	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.81936	0.4928	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.65323	0.934	T	0.69745	-0.5062	9	0.87932	D	0	.	5.9096	0.19020	0.5538:0.4462:0.0:0.0	.	213	Q8IUX4	ABC3F_HUMAN	W	213	ENSP00000309749:R213W	ENSP00000309749:R213W	R	+	1	2	APOBEC3F	37775446	0.013000	0.17824	0.000000	0.03702	0.001000	0.01503	0.367000	0.20382	-0.109000	0.12044	-0.470000	0.05040	CGG		0.488	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	
APOBEC3G	60489	broad.mit.edu	37	22	39477045	39477045	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39477045C>A	ENST00000407997.3	+	3	636	c.279C>A	c.(277-279)tcC>tcA	p.S93S	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Silent_p.S93S	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	93	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S93S(2)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GGTACATATCCTGGAGCCCCT	0.532																																					p.S93S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C279A	22						.						98.0	84.0	89.0					22																	39477045		2203	4300	6503	37806991	SO:0001819	synonymous_variant	60489	exon3			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.279C>A	22.37:g.39477045C>A			37806991	NM_021822	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Silent	SNP	ENST00000407997.3	37	CCDS13984.1																																																																																				0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
APOBEC3G	60489	broad.mit.edu	37	22	39482506	39482506	+	Missense_Mutation	SNP	A	A	G	rs371126678		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39482506A>G	ENST00000407997.3	+	6	1315	c.958A>G	c.(958-960)Aga>Gga	p.R320G	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R320G	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	320	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R320G(2)		central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGATCAAGGAAGATGTCAGGA	0.512																																					p.R320G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A958G	22						.	A	GLY/ARG	0,4406		0,0,2203	114.0	123.0	120.0		958	-2.4	0.0	22		120	1,8599		0,1,4299	no	missense	APOBEC3G	NM_021822.3	125	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	320/385	39482506	1,13005	2203	4300	6503	37812452	SO:0001583	missense	60489	exon6			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.958A>G	22.37:g.39482506A>G	ENSP00000385057:p.Arg320Gly		37812452	NM_021822	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	0.168	-1.073953	0.01918	0.0	1.16E-4	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66995	-0.24;-0.24	1.39	-2.44	0.06502	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.44008	0.1273	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.17433	0.018	T	0.22871	-1.0204	9	0.17832	T	0.49	.	3.3744	0.07232	0.3387:0.2194:0.4419:0.0	.	320	Q9HC16	ABC3G_HUMAN	G	320	ENSP00000413376:R320G;ENSP00000385057:R320G	ENSP00000385057:R320G	R	+	1	2	APOBEC3G	37812452	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.561000	0.02158	-0.604000	0.05760	-0.756000	0.03474	AGA		0.512	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822	
MGAT3	4248	broad.mit.edu	37	22	39884258	39884258	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:39884258G>A	ENST00000341184.6	+	2	1121	c.906G>A	c.(904-906)tcG>tcA	p.S302S		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	302					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.S302S(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCGTCTCGCGGCTGCGCA	0.657																																					p.S302S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G906A	22						.						58.0	61.0	60.0					22																	39884258		2202	4294	6496	38214204	SO:0001819	synonymous_variant	4248	exon1			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.906G>A	22.37:g.39884258G>A			38214204	NM_001098270	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	CCDS13994.2																																																																																				0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
CACNA1I	8911	broad.mit.edu	37	22	40078593	40078593	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40078593G>T	ENST00000402142.3	+	35	5757	c.5757G>T	c.(5755-5757)gaG>gaT	p.E1919D	CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1919D|CACNA1I_ENST00000336649.4_Missense_Mutation_p.E1925D|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1884D|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1884D|CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1884D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1919					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.E1884D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGATCCAGAGAACTTCCTGT	0.612																																					p.E1919D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5757T	22						.						68.0	72.0	70.0					22																	40078593		2016	4164	6180	38408539	SO:0001583	missense	8911	exon35			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5757G>T	22.37:g.40078593G>T	ENSP00000385019:p.Glu1919Asp		38408539	NM_021096	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187380	0.21870	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97114	-4.22;-4.19;-4.21;-4.17;-4.25;-4.15	4.94	4.94	0.65067	.	7739.210000	0.00166	N	0.000000	D	0.93618	0.7962	L	0.31294	0.92	0.30133	N	0.804617	B;B;B;B	0.15930	0.002;0.015;0.015;0.009	B;B;B;B	0.16722	0.006;0.011;0.016;0.007	T	0.81780	-0.0776	10	0.02654	T	1	.	9.0757	0.36519	0.0838:0.1619:0.7543:0.0	.	1884;1919;1884;1919	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	D	1919;1884;1919;1884;1925;1884	ENSP00000385019:E1919D;ENSP00000384093:E1884D;ENSP00000383887:E1919D;ENSP00000385680:E1884D;ENSP00000337829:E1925D;ENSP00000383028:E1884D	ENSP00000337829:E1925D	E	+	3	2	CACNA1I	38408539	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	1.366000	0.34193	2.286000	0.76751	0.655000	0.94253	GAG		0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
ENTHD1	150350	broad.mit.edu	37	22	40139830	40139830	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40139830C>T	ENST00000325157.6	-	7	1928	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	560								p.A560T(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTAATCTAGCGATCGCACGT	0.408																																					p.A560T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1678A	22						.						140.0	119.0	126.0					22																	40139830		2203	4300	6503	38469776	SO:0001583	missense	150350	exon7			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1678G>A	22.37:g.40139830C>T	ENSP00000317431:p.Ala560Thr		38469776	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	7.826	0.718899	0.15372	.	.	ENSG00000176177	ENST00000325157	T	0.30981	1.51	5.76	2.53	0.30540	.	0.831724	0.10467	N	0.671219	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	P	0.39094	0.659	B	0.24848	0.056	T	0.08764	-1.0706	10	0.40728	T	0.16	-0.2732	8.4405	0.32812	0.0:0.7508:0.0:0.2492	.	560	Q8IYW4	ENTD1_HUMAN	T	560	ENSP00000317431:A560T	ENSP00000317431:A560T	A	-	1	0	ENTHD1	38469776	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.679000	0.05203	0.786000	0.33708	0.655000	0.94253	GCT		0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
ENTHD1	150350	broad.mit.edu	37	22	40140215	40140215	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40140215C>A	ENST00000325157.6	-	7	1543	c.1293G>T	c.(1291-1293)gaG>gaT	p.E431D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	431								p.E431D(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAGCTGACTTCTCTGGAGAGG	0.418																																					p.E431D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1293T	22						.						66.0	63.0	64.0					22																	40140215		2203	4300	6503	38470161	SO:0001583	missense	150350	exon7			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1293G>T	22.37:g.40140215C>A	ENSP00000317431:p.Glu431Asp		38470161	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499851	0.26861	.	.	ENSG00000176177	ENST00000325157	T	0.66280	-0.2	5.64	3.16	0.36331	.	0.354113	0.23797	N	0.044479	T	0.45054	0.1323	L	0.29908	0.895	0.22933	N	0.998541	B	0.18461	0.028	B	0.17433	0.018	T	0.22977	-1.0201	10	0.26408	T	0.33	-2.9461	7.9788	0.30170	0.0:0.7365:0.1662:0.0973	.	431	Q8IYW4	ENTD1_HUMAN	D	431	ENSP00000317431:E431D	ENSP00000317431:E431D	E	-	3	2	ENTHD1	38470161	0.982000	0.34865	0.653000	0.29593	0.703000	0.40648	0.235000	0.17948	1.341000	0.45600	0.650000	0.86243	GAG		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
ENTHD1	150350	broad.mit.edu	37	22	40231926	40231926	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40231926G>A	ENST00000325157.6	-	4	880	c.630C>T	c.(628-630)tgC>tgT	p.C210C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	210								p.C210C(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAACATCTTGGCAATGCTCTT	0.358																																					p.C210C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C630T	22						.						284.0	260.0	268.0					22																	40231926		2203	4300	6503	38561872	SO:0001819	synonymous_variant	150350	exon4			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.630C>T	22.37:g.40231926G>A			38561872	NM_152512	B0QYD5|Q5H9F7|Q96LK3	Silent	SNP	ENST00000325157.6	37	CCDS13998.1																																																																																				0.358	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512	
GRAP2	9402	broad.mit.edu	37	22	40351888	40351888	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40351888G>T	ENST00000344138.4	+	3	407	c.144G>T	c.(142-144)aaG>aaT	p.K48N	GRAP2_ENST00000543252.1_Missense_Mutation_p.K48N|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.K48N|GRAP2_ENST00000544756.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	48	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.K48N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ATGTGCCCAAGAATTTCATAG	0.453																																					p.K48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G144T	22						.						107.0	94.0	98.0					22																	40351888		2203	4300	6503	38681834	SO:0001583	missense	9402	exon3			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.144G>T	22.37:g.40351888G>T	ENSP00000339186:p.Lys48Asn		38681834	NM_004810	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702122	0.68501	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.30182	1.54;1.94;1.94;1.54	5.46	4.45	0.53987	Src homology-3 domain (2);	0.093973	0.64402	D	0.000001	T	0.41971	0.1182	L	0.37750	1.13	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.64410	0.925;0.925	T	0.32295	-0.9912	10	0.66056	D	0.02	-31.1498	11.9833	0.53131	0.0808:0.0:0.9192:0.0	.	48;48	Q6FI14;O75791	.;GRAP2_HUMAN	N	48	ENSP00000339186:K48N;ENSP00000446350:K48N;ENSP00000396355:K48N;ENSP00000385607:K48N	ENSP00000339186:K48N	K	+	3	2	GRAP2	38681834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.846000	0.39289	1.311000	0.45024	0.655000	0.94253	AAG		0.453	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
GRAP2	9402	broad.mit.edu	37	22	40356095	40356095	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40356095G>T	ENST00000344138.4	+	4	470	c.207G>T	c.(205-207)gaG>gaT	p.E69D	GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.E69D|GRAP2_ENST00000544756.1_5'UTR|RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Nonsense_Mutation_p.E13*	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	69	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.E69D(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACCAGGCAGAGAACTTACTCA	0.547																																					p.E69D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G207T	22						.						255.0	263.0	260.0					22																	40356095		2203	4300	6503	38686041	SO:0001583	missense	9402	exon4			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.207G>T	22.37:g.40356095G>T	ENSP00000339186:p.Glu69Asp		38686041	NM_004810	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.187696|6.187696	0.97357|0.97357	.|.	.|.	ENSG00000100351|ENSG00000100351	ENST00000344138;ENST00000544006;ENST00000420971;ENST00000407075|ENST00000399090	D;D;D|.	0.91894|.	-2.93;-2.93;-2.93|.	5.31|5.31	3.22|3.22	0.36961|0.36961	SH2 motif (5);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.73458|.	0.3589|.	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.845|.	D;B|.	0.87578|.	0.998;0.346|.	T|.	0.76152|.	-0.3064|.	10|.	0.87932|0.87932	D|D	0|0	-27.6342|-27.6342	9.0202|9.0202	0.36195|0.36195	0.2372:0.0:0.7628:0.0|0.2372:0.0:0.7628:0.0	.|.	43;69|.	B7Z8F8;O75791|.	.;GRAP2_HUMAN|.	D|X	69;43;69;69|13	ENSP00000339186:E69D;ENSP00000396355:E69D;ENSP00000385607:E69D|.	ENSP00000339186:E69D|ENSP00000382040:E13X	E|E	+|+	3|1	2|0	GRAP2|GRAP2	38686041|38686041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.375000|2.375000	0.44283|0.44283	1.208000|1.208000	0.43306|0.43306	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.547	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
GRAP2	9402	broad.mit.edu	37	22	40362101	40362101	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40362101G>T	ENST00000344138.4	+	5	661	c.398G>T	c.(397-399)aGg>aTg	p.R133M	GRAP2_ENST00000543252.1_Missense_Mutation_p.R93M|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.R133M|GRAP2_ENST00000544756.1_Missense_Mutation_p.R61M|RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000540310.1_Missense_Mutation_p.R67M|GRAP2_ENST00000399090.2_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	133	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.R133M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACTACTACAGGACAAATTCC	0.448																																					p.R133M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398T	22						.						115.0	99.0	104.0					22																	40362101		2203	4300	6503	38692047	SO:0001583	missense	9402	exon5			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.398G>T	22.37:g.40362101G>T	ENSP00000339186:p.Arg133Met		38692047	NM_004810	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114780	0.77210	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000407075	T;D;D;D;T	0.82619	-0.04;-1.63;-1.63;-1.63;-0.04	6.03	2.85	0.33270	SH2 motif (4);	0.311047	0.40469	N	0.001096	D	0.85652	0.5746	L	0.52126	1.63	0.45899	D	0.998745	D;D;D;D	0.76494	0.983;0.999;0.998;0.983	P;D;P;P	0.65874	0.569;0.939;0.87;0.569	D	0.85007	0.0903	10	0.87932	D	0	-26.0301	8.5737	0.33585	0.3879:0.0:0.6121:0.0	.	133;67;107;133	Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;GRAP2_HUMAN	M	133;93;107;67;61;133	ENSP00000339186:R133M;ENSP00000446350:R93M;ENSP00000444734:R67M;ENSP00000442195:R61M;ENSP00000385607:R133M	ENSP00000339186:R133M	R	+	2	0	GRAP2	38692047	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.635000	0.37134	0.887000	0.36136	0.655000	0.94253	AGG		0.448	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
TNRC6B	23112	broad.mit.edu	37	22	40662788	40662788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40662788C>T	ENST00000454349.2	+	5	2765	c.2554C>T	c.(2554-2556)Cga>Tga	p.R852*	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R852*|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	852	Interaction with argonaute proteins.|Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R866*(2)		breast(1)	1						AGGCAACGTTCGACCTTCCAA	0.617																																					p.R852X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2554T	22						.						31.0	37.0	35.0					22																	40662788		2107	4216	6323	38992734	SO:0001587	stop_gained	23112	exon5			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2554C>T	22.37:g.40662788C>T	ENSP00000401946:p.Arg852*		38992734	NM_015088	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	43	10.036531	0.99323	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.46	4.4	0.53042	.	0.062472	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-4.4001	12.7472	0.57287	0.4244:0.5756:0.0:0.0	.	.	.	.	X	852	.	ENSP00000338371:R852X	R	+	1	2	TNRC6B	38992734	1.000000	0.71417	0.936000	0.37596	0.986000	0.74619	2.771000	0.47670	1.230000	0.43646	0.561000	0.74099	CGA		0.617	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
ADSL	158	broad.mit.edu	37	22	40745898	40745898	+	Silent	SNP	C	C	T	rs145786986	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40745898C>T	ENST00000216194.7	+	2	272	c.216C>T	c.(214-216)atC>atT	p.I72I	ADSL_ENST00000454266.2_Silent_p.I72I|ADSL_ENST00000342312.6_Silent_p.I72I	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	72			I -> V (in ADSL deficiency; severe). {ECO:0000269|PubMed:10090474}.		'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.I72I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGGAGAACATCGACTTCAAGA	0.433													C|||	6	0.00119808	0.0008	0.0072	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.0				p.I72I	Colon(4;65 130 1097 1516)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	22						.	C	,	5,4401	9.9+/-24.2	0,5,2198	119.0	94.0	102.0		216,216	-5.3	1.0	22	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ADSL	NM_000026.2,NM_001123378.1	,	0,8,6495	TT,TC,CC		0.0349,0.1135,0.0615	,	72/485,72/426	40745898	8,12998	2203	4300	6503	39075844	SO:0001819	synonymous_variant	158	exon2			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.216C>T	22.37:g.40745898C>T			39075844	NM_000026	B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	CCDS14001.1																																																																																				0.433	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
SGSM3	27352	broad.mit.edu	37	22	40801147	40801147	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:40801147C>T	ENST00000248929.9	+	7	666	c.477C>T	c.(475-477)atC>atT	p.I159I	SGSM3_ENST00000454798.2_Silent_p.I92I	NM_015705.4	NP_056520.2			small G protein signaling modulator 3									p.I159I(1)		cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCTGACAGATCGAGAAGGACC	0.657																																					p.I159I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	22						.						52.0	56.0	54.0					22																	40801147		2203	4300	6503	39131093	SO:0001819	synonymous_variant	27352	exon7			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.477C>T	22.37:g.40801147C>T			39131093	NM_015705		Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.657	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
MCHR1	2847	broad.mit.edu	37	22	41077326	41077326	+	Silent	SNP	G	G	A	rs200370529		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41077326G>A	ENST00000249016.4	+	2	1359	c.663G>A	c.(661-663)acG>acA	p.T221T	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)	p.T221T(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TCTCTTCCACGAAGTTCCGGA	0.592																																					p.T221T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G663A	22						.						153.0	129.0	137.0					22																	41077326		2203	4300	6503	39407272	SO:0001819	synonymous_variant	2847	exon2				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.663G>A	22.37:g.41077326G>A			39407272	NM_005297	B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	CCDS14004.1																																																																																				0.592	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297	
SLC25A17	10478	broad.mit.edu	37	22	41188666	41188666	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41188666C>T	ENST00000435456.2	-	4	330	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_Missense_Mutation_p.R29Q|SLC25A17_ENST00000542412.1_Intron	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	66	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.R66Q(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						aaaccaccctcgatatggtgc	0.418																																					p.R66Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	22						.						71.0	69.0	70.0					22																	41188666		2203	4300	6503	39518612	SO:0001583	missense	10478	exon4			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.197G>A	22.37:g.41188666C>T	ENSP00000390722:p.Arg66Gln		39518612	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400618	0.25291	.	.	ENSG00000100372	ENST00000435456;ENST00000544408;ENST00000434185	D;D;D	0.81659	-1.52;-1.52;-1.52	1.83	1.83	0.25207	Mitochondrial carrier domain (2);	0.063358	0.64402	D	0.000006	T	0.78672	0.4320	M	0.69358	2.11	0.52099	D	0.999947	D;P	0.56035	0.974;0.895	P;P	0.49226	0.593;0.603	T	0.75485	-0.3301	10	0.33940	T	0.23	-26.2165	7.2262	0.26016	0.0:1.0:0.0:0.0	.	29;66	B4DU97;O43808	.;PM34_HUMAN	Q	66;29;49	ENSP00000390722:R66Q;ENSP00000438355:R29Q;ENSP00000404200:R49Q	ENSP00000394539:R66Q	R	-	2	0	SLC25A17	39518612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.930000	0.40124	1.347000	0.45714	0.398000	0.26397	CGA		0.418	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
XPNPEP3	63929	broad.mit.edu	37	22	41305159	41305159	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41305159A>G	ENST00000357137.4	+	6	973	c.889A>G	c.(889-891)Att>Gtt	p.I297V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I274V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	297					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.I297V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGCGCAGACATTTTAGCCTA	0.478																																					p.I297V	Ovarian(145;306 1841 7037 21878 30110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A889G	22						.						190.0	168.0	175.0					22																	41305159		2203	4300	6503	39635105	SO:0001583	missense	63929	exon6				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.889A>G	22.37:g.41305159A>G	ENSP00000349658:p.Ile297Val		39635105	NM_022098	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208039	0.39003	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.76448	-1.02;-1.02	5.58	5.58	0.84498	Peptidase M24, structural domain (3);	0.046354	0.85682	D	0.000000	T	0.72684	0.3491	L	0.28556	0.865	0.47547	D	0.999458	P	0.49961	0.93	P	0.48425	0.577	T	0.69602	-0.5101	10	0.19147	T	0.46	.	15.4153	0.74962	1.0:0.0:0.0:0.0	.	297	Q9NQH7	XPP3_HUMAN	V	297;274	ENSP00000349658:I297V;ENSP00000441942:I274V	ENSP00000349658:I297V	I	+	1	0	XPNPEP3	39635105	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.980000	0.70516	2.134000	0.65973	0.459000	0.35465	ATT		0.478	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	
EP300	2033	broad.mit.edu	37	22	41545903	41545903	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41545903C>A	ENST00000263253.7	+	14	3737	c.2518C>A	c.(2518-2520)Ccc>Acc	p.P840T		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	840					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P840T(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAGTCGTACCCCCACCCCTCA	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.P840T			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2518A	22						.						113.0	70.0	85.0					22																	41545903		2203	4300	6503	39875849	SO:0001583	missense	2033	exon14	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2518C>A	22.37:g.41545903C>A	ENSP00000263253:p.Pro840Thr		39875849	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236326	0.58886	.	.	ENSG00000100393	ENST00000263253	D	0.84516	-1.86	6.08	6.08	0.98989	.	0.000000	0.48286	D	0.000186	D	0.85695	0.5756	N	0.08118	0	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	D	0.85655	0.1285	10	0.33141	T	0.24	-8.1572	20.6721	0.99693	0.0:1.0:0.0:0.0	.	840	Q09472	EP300_HUMAN	T	840	ENSP00000263253:P840T	ENSP00000263253:P840T	P	+	1	0	EP300	39875849	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	6.899000	0.75682	2.894000	0.99253	0.591000	0.81541	CCC		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EP300	2033	broad.mit.edu	37	22	41574836	41574836	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41574836C>A	ENST00000263253.7	+	31	8340	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2374					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.S2374Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.S2374Y			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7121A	22						.						50.0	52.0	51.0					22																	41574836		2203	4300	6503	39904782	SO:0001583	missense	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.7121C>A	22.37:g.41574836C>A	ENSP00000263253:p.Ser2374Tyr		39904782	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900466	0.52227	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.65	5.65	0.86999	.	0.000000	0.45867	D	0.000322	D	0.89815	0.6824	L	0.46157	1.445	0.52099	D	0.999947	D	0.61697	0.99	P	0.54664	0.758	D	0.90516	0.4485	10	0.87932	D	0	-10.4503	19.717	0.96124	0.0:1.0:0.0:0.0	.	2374	Q09472	EP300_HUMAN	Y	2374	ENSP00000263253:S2374Y	ENSP00000263253:S2374Y	S	+	2	0	EP300	39904782	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.944000	0.70219	2.661000	0.90470	0.655000	0.94253	TCT		0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
ZC3H7B	23264	broad.mit.edu	37	22	41742114	41742114	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41742114G>A	ENST00000352645.4	+	14	1824	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D523N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	539					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D523N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCAACCGCGACCTGCTCTT	0.607																																					p.D523N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567A	22						.						157.0	125.0	136.0					22																	41742114		2203	4300	6503	40072060	SO:0001583	missense	23264	exon14				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1567G>A	22.37:g.41742114G>A	ENSP00000345793:p.Asp523Asn		40072060	NM_017590	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123437	0.94429	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.19105	2.17;2.17	5.36	5.36	0.76844	.	0.044939	0.85682	D	0.000000	T	0.25975	0.0633	L	0.46157	1.445	0.58432	D	0.999995	P	0.50272	0.933	B	0.43155	0.41	T	0.02539	-1.1144	10	0.66056	D	0.02	-34.013	19.0939	0.93242	0.0:0.0:1.0:0.0	.	523	Q9UGR2-2	.	N	523	ENSP00000345793:D523N;ENSP00000263243:D523N	ENSP00000263243:D523N	D	+	1	0	ZC3H7B	40072060	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.987000	0.88182	2.523000	0.85059	0.555000	0.69702	GAC		0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590	
PMM1	5372	broad.mit.edu	37	22	41979978	41979978	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:41979978G>T	ENST00000216259.7	-	5	543	c.459C>A	c.(457-459)ttC>ttA	p.F153L	PMM1_ENST00000466645.1_5'Flank	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	153					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)	p.F153L(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCAGTTCGGAGAACTCGATCC	0.512																																					p.F153L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C459A	22						.						111.0	97.0	102.0					22																	41979978		2203	4300	6503	40309924	SO:0001583	missense	5372	exon5				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.459C>A	22.37:g.41979978G>T	ENSP00000216259:p.Phe153Leu		40309924	NM_002676	A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836597	0.71373	.	.	ENSG00000100417	ENST00000216259	D	0.98987	-5.3	5.41	3.27	0.37495	HAD-like domain (1);	0.094859	0.85682	N	0.000000	D	0.98197	0.9404	M	0.91459	3.21	0.80722	D	1	B	0.15473	0.013	B	0.18263	0.021	D	0.96304	0.9223	10	0.87932	D	0	-22.2686	5.1571	0.15040	0.2207:0.0:0.6325:0.1468	.	153	Q92871	PMM1_HUMAN	L	153	ENSP00000216259:F153L	ENSP00000216259:F153L	F	-	3	2	PMM1	40309924	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	2.238000	0.43070	0.624000	0.30286	0.563000	0.77884	TTC		0.512	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676	
XRCC6	2547	broad.mit.edu	37	22	42032768	42032768	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42032768G>T	ENST00000359308.4	+	4	1238	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	XRCC6_ENST00000402580.3_Missense_Mutation_p.D154Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D195Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D195Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D62Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D145Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	195					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.D195H(1)|p.D195Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TGATCTCCGAGATACAGGTGG	0.453								Non-homologous end-joining																													p.D195Y												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G583T	22						.						55.0	57.0	57.0					22																	42032768		2203	4300	6503	40362714	SO:0001583	missense	2547	exon5			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.583G>T	22.37:g.42032768G>T	ENSP00000352257:p.Asp195Tyr		40362714	NM_001469	B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625223	0.66901	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.39	5.39	0.77823	Ku70/Ku80, N-terminal alpha/beta (1);	0.101533	0.64402	D	0.000002	D	0.83613	0.5292	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.99;0.988;0.99;0.991	D	0.84618	0.0682	9	0.51188	T	0.08	-23.5411	19.1841	0.93635	0.0:0.0:1.0:0.0	.	145;195;154;195	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	195;154;62;195;195;195;145	.	ENSP00000352257:D195Y	D	+	1	0	XRCC6	40362714	1.000000	0.71417	0.999000	0.59377	0.312000	0.27988	9.476000	0.97823	2.537000	0.85549	0.655000	0.94253	GAT		0.453	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469	
MEI1	150365	broad.mit.edu	37	22	42141907	42141907	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42141907G>T	ENST00000401548.3	+	14	1597	c.1557G>T	c.(1555-1557)caG>caT	p.Q519H	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.Q259H|MEI1_ENST00000400107.1_5'UTR|Y_RNA_ENST00000384086.1_RNA	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.Q519H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TAGAATTCCAGAGTGAGCCTT	0.498																																					p.Q519H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1557T	22						.						66.0	67.0	67.0					22																	42141907		1912	4139	6051	40471853	SO:0001583	missense	150365	exon14			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1557G>T	22.37:g.42141907G>T	ENSP00000384115:p.Gln519His		40471853	NM_152513		Missense_Mutation	SNP	ENST00000401548.3	37	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322496	0.60634	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.48836	1.79;0.8	5.43	4.41	0.53225	Armadillo-type fold (1);	0.152448	0.44902	D	0.000405	T	0.62344	0.2420	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.976;0.997	T	0.64045	-0.6499	10	0.72032	D	0.01	-6.6768	8.7957	0.34878	0.1773:0.0:0.8227:0.0	.	519;519	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	H	519;259	ENSP00000384115:Q519H;ENSP00000444225:Q259H	ENSP00000384115:Q519H	Q	+	3	2	MEI1	40471853	1.000000	0.71417	0.920000	0.36463	0.998000	0.95712	1.948000	0.40303	1.249000	0.43950	0.655000	0.94253	CAG		0.498	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513	
CCDC134	79879	broad.mit.edu	37	22	42205912	42205912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42205912G>T	ENST00000255784.5	+	3	237	c.133G>T	c.(133-135)Gag>Tag	p.E45*	CCDC134_ENST00000402061.3_Nonsense_Mutation_p.E45*	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	45						extracellular region (GO:0005576)|membrane (GO:0016020)		p.E45*(1)		large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GAAGCGGCGGGAGCAGCTGTT	0.522																																					p.E45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G133T	22						.						68.0	61.0	63.0					22																	42205912		2203	4300	6503	40535858	SO:0001587	stop_gained	79879	exon3			AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.133G>T	22.37:g.42205912G>T	ENSP00000255784:p.Glu45*		40535858	NM_024821		Nonsense_Mutation	SNP	ENST00000255784.5	37	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532339	0.45073	.	.	ENSG00000100147	ENST00000402061;ENST00000255784;ENST00000429249	.	.	.	4.84	4.84	0.62591	.	0.103349	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.6239	18.495	0.90861	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000255784:E45X	E	+	1	0	CCDC134	40535858	1.000000	0.71417	0.983000	0.44433	0.320000	0.28249	8.823000	0.92018	2.683000	0.91414	0.655000	0.94253	GAG		0.522	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821	
TCF20	6942	broad.mit.edu	37	22	42606743	42606743	+	Silent	SNP	C	C	T	rs142330661	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42606743C>T	ENST00000359486.3	-	1	4705	c.4569G>A	c.(4567-4569)ccG>ccA	p.P1523P	TCF20_ENST00000335626.4_Silent_p.P1523P|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1523P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTCTTGCTTCGGTGAAATCG	0.488																																					p.P1523P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4569A	22						.	C	,	1,4405	2.1+/-5.4	0,1,2202	108.0	92.0	97.0		4569,4569	-0.4	1.0	22	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	1523/1961,1523/1939	42606743	3,13003	2203	4300	6503	40936687	SO:0001819	synonymous_variant	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4569G>A	22.37:g.42606743C>T			40936687	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	CCDS14033.1																																																																																				0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
TCF20	6942	broad.mit.edu	37	22	42609650	42609650	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42609650C>A	ENST00000359486.3	-	1	1798	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	TCF20_ENST00000335626.4_Missense_Mutation_p.E554D	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E554D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGCCAGCTTTCTCAGAGGCTC	0.592																																					p.E554D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1662T	22						.						85.0	84.0	84.0					22																	42609650		2203	4300	6503	40939594	SO:0001583	missense	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1662G>T	22.37:g.42609650C>A	ENSP00000352463:p.Glu554Asp		40939594	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786009	0.31593	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.32515	1.45;1.45	6.17	2.96	0.34315	.	0.071629	0.56097	D	0.000023	T	0.36110	0.0955	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.994	D;D	0.76071	0.987;0.97	T	0.04467	-1.0949	10	0.30078	T	0.28	-25.5522	10.55	0.45083	0.0:0.7413:0.0:0.2587	.	554;554	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	554	ENSP00000352463:E554D;ENSP00000335561:E554D	ENSP00000335561:E554D	E	-	3	2	TCF20	40939594	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	0.820000	0.27323	0.952000	0.37798	0.655000	0.94253	GAG		0.592	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
POLDIP3	84271	broad.mit.edu	37	22	42998975	42998975	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42998975C>T	ENST00000252115.5	-	2	355	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	POLDIP3_ENST00000339677.6_Missense_Mutation_p.R84Q|POLDIP3_ENST00000451060.2_5'Flank|POLDIP3_ENST00000348657.2_Missense_Mutation_p.R84Q|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	84					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R84Q(2)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GATTCGAAATCGGGCATCTTT	0.562																																					p.R84Q	Ovarian(52;967 1128 5875 19997 42537)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G251A	22						.						100.0	98.0	99.0					22																	42998975		2203	4300	6503	41328919	SO:0001583	missense	84271	exon2				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.251G>A	22.37:g.42998975C>T	ENSP00000252115:p.Arg84Gln		41328919	NM_178136	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148352	0.94603	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	6.08	0.98989	.	0.055197	0.85682	D	0.000000	T	0.80407	0.4617	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.996	T	0.80004	-0.1564	9	0.72032	D	0.01	-15.0671	20.6721	0.99693	0.0:1.0:0.0:0.0	.	84;84;84;84	B4E0L0;Q6R954;Q9BY77-2;Q9BY77	.;.;.;PDIP3_HUMAN	Q	84	.	ENSP00000252115:R84Q	R	-	2	0	POLDIP3	41328919	0.999000	0.42202	0.946000	0.38457	0.669000	0.39330	4.939000	0.63526	2.894000	0.99253	0.591000	0.81541	CGA		0.562	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	
PACSIN2	11252	broad.mit.edu	37	22	43287079	43287079	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43287079G>A	ENST00000263246.3	-	4	528	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PACSIN2_ENST00000407585.1_Silent_p.F109F|PACSIN2_ENST00000337959.4_Silent_p.F109F|PACSIN2_ENST00000403744.3_Silent_p.F109F|PACSIN2_ENST00000402229.1_Silent_p.F109F	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	109	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)	p.F109F(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TGATCTTCTCGAAGTCATCGT	0.567																																					p.F109F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	22						.						86.0	85.0	86.0					22																	43287079		2174	4293	6467	41617023	SO:0001819	synonymous_variant	11252	exon4			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.327C>T	22.37:g.43287079G>A			41617023	NM_001184971	O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Silent	SNP	ENST00000263246.3	37	CCDS43023.1																																																																																				0.567	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229	
SCUBE1	80274	broad.mit.edu	37	22	43735138	43735138	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43735138G>A	ENST00000360835.4	-	2	318	c.192C>T	c.(190-192)ggC>ggT	p.G64G	SCUBE1_ENST00000290460.7_Silent_p.G64G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	64	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.G64G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCCCCTTGTAGCCTGGCTTGC	0.622																																					p.G64G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	22						.						183.0	131.0	149.0					22																	43735138		2203	4300	6503	42065082	SO:0001819	synonymous_variant	80274	exon2				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.192C>T	22.37:g.43735138G>A			42065082	NM_173050	Q5R336	Silent	SNP	ENST00000360835.4	37	CCDS14048.1																																																																																				0.622	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
MPPED1	758	broad.mit.edu	37	22	43831029	43831029	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43831029G>A	ENST00000417669.2	+	3	744	c.300G>A	c.(298-300)tcG>tcA	p.S100S	MPPED1_ENST00000538182.1_Silent_p.S133S|MPPED1_ENST00000443721.1_Silent_p.S100S|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Silent_p.S100S			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	100							hydrolase activity (GO:0016787)	p.S100S(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ATACCCACTCGAGGACGGACC	0.627																																					p.S100S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	22						.						108.0	124.0	118.0					22																	43831029		2133	4224	6357	42160973	SO:0001819	synonymous_variant	758	exon3			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.300G>A	22.37:g.43831029G>A			42160973	NM_001044370	A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	CCDS46723.1																																																																																				0.627	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370	
EFCAB6	64800	broad.mit.edu	37	22	43950925	43950925	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43950925G>T	ENST00000262726.7	-	27	3725	c.3472C>A	c.(3472-3474)Ccc>Acc	p.P1158T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P1006T|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P1158T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGGCCTTGGGAGAGGTAGGC	0.507																																					p.P1006T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3016A	22						.						87.0	80.0	82.0					22																	43950925		2203	4300	6503	42282258	SO:0001583	missense	64800	exon25			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3472C>A	22.37:g.43950925G>T	ENSP00000262726:p.Pro1158Thr		42282258	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323238	0.24080	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.17213	2.32;2.29	4.88	0.277	0.15668	.	0.583885	0.16357	N	0.217950	T	0.14614	0.0353	L	0.45581	1.43	0.28123	N	0.930522	P;B	0.45531	0.86;0.319	P;B	0.47075	0.536;0.075	T	0.14254	-1.0479	10	0.14252	T	0.57	-13.1876	4.2727	0.10794	0.3639:0.1634:0.4727:0.0	.	1006;1158	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	T	1006;1158	ENSP00000379533:P1006T;ENSP00000262726:P1158T	ENSP00000262726:P1158T	P	-	1	0	EFCAB6	42282258	0.037000	0.19845	0.019000	0.16419	0.057000	0.15508	0.084000	0.14891	0.281000	0.22233	0.655000	0.94253	CCC		0.507	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	43972305	43972305	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43972305G>T	ENST00000262726.7	-	26	3545	c.3292C>A	c.(3292-3294)Ctt>Att	p.L1098I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L946I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1098	EF-hand 12. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L1098I(1)|p.L1098V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAATCCTTAAGAACTTGTCCG	0.313																																					p.L946I												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C2836A	22						.						66.0	70.0	69.0					22																	43972305		2203	4299	6502	42303638	SO:0001583	missense	64800	exon24			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3292C>A	22.37:g.43972305G>T	ENSP00000262726:p.Leu1098Ile		42303638	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800011	0.31869	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.12774	2.65;2.65	5.4	3.19	0.36642	EF-hand-like domain (1);	0.153404	0.43110	N	0.000616	T	0.24699	0.0599	L	0.56769	1.78	0.26817	N	0.968879	P;P	0.44946	0.724;0.846	B;P	0.52309	0.292;0.695	T	0.03249	-1.1056	10	0.51188	T	0.08	-19.2094	14.0077	0.64475	0.0:0.0:0.6951:0.3049	.	946;1098	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	I	946;1098	ENSP00000379533:L946I;ENSP00000262726:L1098I	ENSP00000262726:L1098I	L	-	1	0	EFCAB6	42303638	0.986000	0.35501	0.490000	0.27465	0.939000	0.58152	2.915000	0.48805	1.468000	0.48064	-0.274000	0.10170	CTT		0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	43996032	43996032	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:43996032G>T	ENST00000262726.7	-	23	3046	c.2793C>A	c.(2791-2793)ttC>ttA	p.F931L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.F779L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	931					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F931L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AATGACCCATGAAGTTGAAAT	0.478																																					p.F779L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2337A	22						.						197.0	196.0	197.0					22																	43996032		2203	4300	6503	42327365	SO:0001583	missense	64800	exon21			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2793C>A	22.37:g.43996032G>T	ENSP00000262726:p.Phe931Leu		42327365	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567993	0.65651	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.38722	1.12;1.12	5.26	5.26	0.73747	.	0.177155	0.39544	N	0.001335	T	0.49898	0.1584	L	0.46157	1.445	0.80722	D	1	D;P	0.71674	0.998;0.584	D;B	0.80764	0.994;0.16	T	0.38887	-0.9640	10	0.08837	T	0.75	-25.6401	9.7616	0.40534	0.0908:0.0:0.9092:0.0	.	779;931	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	L	779;931	ENSP00000379533:F779L;ENSP00000262726:F931L	ENSP00000262726:F931L	F	-	3	2	EFCAB6	42327365	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.407000	0.44565	2.731000	0.93534	0.650000	0.86243	TTC		0.478	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44031028	44031028	+	Silent	SNP	G	G	A	rs201541665		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44031028G>A	ENST00000262726.7	-	18	2305	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	EFCAB6_ENST00000396231.2_Silent_p.F532F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F684F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCCTTCTCGAAGCCTATTT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		22706	0.001		0.0	False		,,,				2504	0.0				p.F532F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1596T	22						.						248.0	182.0	204.0					22																	44031028		2203	4300	6503	42362361	SO:0001819	synonymous_variant	64800	exon16			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2052C>T	22.37:g.44031028G>A			42362361	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	CCDS14049.1																																																																																				0.537	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44074010	44074010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44074010G>A	ENST00000262726.7	-	13	1538	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R277*|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	429	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R429*(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGAATATATCGAAATTCTTCT	0.363																																					p.R277X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C829T	22						.						90.0	90.0	90.0					22																	44074010		2203	4300	6503	42405343	SO:0001587	stop_gained	64800	exon11			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1285C>T	22.37:g.44074010G>A	ENSP00000262726:p.Arg429*		42405343	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873062	0.91664	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.96	2.83	0.33086	.	0.632034	0.14820	N	0.296533	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.8467	6.0296	0.19673	0.0952:0.0:0.7174:0.1874	.	.	.	.	X	277;429	.	ENSP00000262726:R429X	R	-	1	2	EFCAB6	42405343	0.069000	0.21087	0.025000	0.17156	0.044000	0.14063	1.192000	0.32150	0.766000	0.33244	0.650000	0.86243	CGA		0.363	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44083429	44083429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44083429C>T	ENST00000262726.7	-	11	1317	c.1064G>A	c.(1063-1065)tGg>tAg	p.W355*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.W203*|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.W355*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAATTGCTTCCAATTGATTTT	0.313																																					p.W203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G608A	22						.						61.0	61.0	61.0					22																	44083429		2203	4300	6503	42414762	SO:0001587	stop_gained	64800	exon9			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1064G>A	22.37:g.44083429C>T	ENSP00000262726:p.Trp355*		42414762	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	38	6.649931	0.97734	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-16.5501	13.2831	0.60226	0.0:1.0:0.0:0.0	.	.	.	.	X	203;355	.	ENSP00000262726:W355X	W	-	2	0	EFCAB6	42414762	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.942000	0.49018	2.595000	0.87683	0.655000	0.94253	TGG		0.313	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44107477	44107477	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44107477T>C	ENST00000262726.7	-	10	1162	c.909A>G	c.(907-909)gaA>gaG	p.E303E	EFCAB6_ENST00000396231.2_Silent_p.E151E|EFCAB6_ENST00000358439.4_Silent_p.E197E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	303	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E303E(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGAGGGCCTTTTCAACCTTTT	0.368																																					p.E151E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A453G	22						.						59.0	61.0	61.0					22																	44107477		2203	4300	6503	42438810	SO:0001819	synonymous_variant	64800	exon8			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.909A>G	22.37:g.44107477T>C			42438810	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	CCDS14049.1																																																																																				0.368	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44131804	44131804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44131804G>A	ENST00000262726.7	-	7	830	c.577C>T	c.(577-579)Cga>Tga	p.R193*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R41*|EFCAB6_ENST00000356087.4_Nonsense_Mutation_p.R87*|EFCAB6_ENST00000358439.4_Nonsense_Mutation_p.R87*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	193	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R193*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCCTGCGGTCGAACCAGTCCA	0.403																																					p.R41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C121T	22						.						133.0	128.0	130.0					22																	44131804		2203	4300	6503	42463137	SO:0001587	stop_gained	64800	exon5			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.577C>T	22.37:g.44131804G>A	ENSP00000262726:p.Arg193*		42463137	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	37	5.994794	0.97184	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	.	.	.	5.0	3.99	0.46301	.	0.184905	0.34088	N	0.004278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.2807	13.4571	0.61206	0.0766:0.0:0.9234:0.0	.	.	.	.	X	41;193;87;87	.	ENSP00000262726:R193X	R	-	1	2	EFCAB6	42463137	0.060000	0.20803	0.002000	0.10522	0.666000	0.39218	1.203000	0.32284	1.482000	0.48325	0.491000	0.48974	CGA		0.403	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
PNPLA3	80339	broad.mit.edu	37	22	44342082	44342082	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44342082G>A	ENST00000216180.3	+	9	1439	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	PNPLA3_ENST00000423180.2_Silent_p.E418E	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	422					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.E422E(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GCACACCTGAGCAGGACTGGC	0.622											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E422E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1266A	22						.						135.0	136.0	135.0					22																	44342082		2203	4300	6503	42673415	SO:0001819	synonymous_variant	80339	exon9				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1266G>A	22.37:g.44342082G>A		923	42673415	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	CCDS14054.1																																																																																				0.622	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
LDOC1L	84247	broad.mit.edu	37	22	44892990	44892990	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:44892990C>A	ENST00000341255.3	-	2	956	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	149								p.E149D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TAGCCCACTTCTCCGCCTCCC	0.602																																					p.E149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	22						.						43.0	44.0	44.0					22																	44892990		2203	4300	6503	43271654	SO:0001583	missense	84247	exon2			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.447G>T	22.37:g.44892990C>A	ENSP00000340434:p.Glu149Asp		43271654	NM_032287	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474917	0.63737	.	.	ENSG00000188636	ENST00000341255	T	0.18960	2.18	3.27	3.27	0.37495	.	0.293400	0.22855	N	0.054820	T	0.13756	0.0333	N	0.24115	0.695	0.29683	N	0.841518	P	0.47253	0.892	B	0.44085	0.44	T	0.03344	-1.1046	10	0.12766	T	0.61	-16.6304	10.3019	0.43656	0.0:1.0:0.0:0.0	.	149	Q6ICC9	LDOCL_HUMAN	D	149	ENSP00000340434:E149D	ENSP00000340434:E149D	E	-	3	2	LDOC1L	43271654	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.775000	0.47702	2.139000	0.66308	0.591000	0.81541	GAG		0.602	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287	
SMC1B	27127	broad.mit.edu	37	22	45795097	45795097	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:45795097C>A	ENST00000357450.4	-	6	990	c.991G>T	c.(991-993)Gat>Tat	p.D331Y	SMC1B_ENST00000404354.3_Missense_Mutation_p.D331Y	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	331					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D331Y(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTATATCATCTTCCTGTTTA	0.363																																					p.D331Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G991T	22						.						205.0	182.0	189.0					22																	45795097		1840	4092	5932	44173761	SO:0001583	missense	27127	exon6			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.991G>T	22.37:g.45795097C>A	ENSP00000350036:p.Asp331Tyr		44173761	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813978	0.50527	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79845	-1.31;-1.16	5.7	5.7	0.88788	RecF/RecN/SMC (1);	0.443883	0.21317	N	0.076536	T	0.76069	0.3936	L	0.36672	1.1	0.34187	D	0.671587	B;P;P	0.48089	0.093;0.905;0.587	B;B;B	0.43575	0.158;0.424;0.424	D	0.84186	0.0442	10	0.66056	D	0.02	.	15.2296	0.73378	0.0:0.7528:0.2472:0.0	.	331;331;331	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	Y	331	ENSP00000350036:D331Y;ENSP00000385902:D331Y	ENSP00000350036:D331Y	D	-	1	0	SMC1B	44173761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.577000	0.36515	2.692000	0.91855	0.655000	0.94253	GAT		0.363	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
FBLN1	2192	broad.mit.edu	37	22	45931216	45931216	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:45931216T>C	ENST00000327858.6	+	8	1016	c.921T>C	c.(919-921)atT>atC	p.I307I	FBLN1_ENST00000402984.3_Splice_Site_p.I345I|FBLN1_ENST00000340923.5_Splice_Site_p.I307I|FBLN1_ENST00000262722.7_Splice_Site_p.I307I|FBLN1_ENST00000442170.2_Splice_Site_p.I307I|FBLN1_ENST00000348697.2_Splice_Site_p.I307I	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	307	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.I307I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCAACTGTATTGGTAAGAGGT	0.547																																					p.I307I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T921C	22						.						64.0	59.0	60.0					22																	45931216		2203	4300	6503	44309880	SO:0001630	splice_region_variant	2192	exon8				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.922+1T>C	22.37:g.45931216T>C			44309880	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Silent	SNP	ENST00000327858.6	37	CCDS14067.1																																																																																				0.547	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Silent
FBLN1	2192	broad.mit.edu	37	22	45937194	45937194	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:45937194G>T	ENST00000327858.6	+	9	1103	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.K374N|FBLN1_ENST00000340923.5_Missense_Mutation_p.K336N|FBLN1_ENST00000262722.7_Missense_Mutation_p.K336N|FBLN1_ENST00000442170.2_Missense_Mutation_p.K336N|FBLN1_ENST00000348697.2_Missense_Mutation_p.K336N	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	336	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.K336N(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGTGCCAGAAGAACGTGCCCA	0.502																																					p.K336N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1008T	22						.						139.0	113.0	121.0					22																	45937194		2203	4300	6503	44315858	SO:0001583	missense	2192	exon9				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1008G>T	22.37:g.45937194G>T	ENSP00000331544:p.Lys336Asn		44315858	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657843	0.67586	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.87491	-1.65;-2.08;-1.96;-2.26;-1.71;-1.62	5.41	3.18	0.36537	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.145467	0.64402	D	0.000013	T	0.80454	0.4626	N	0.03608	-0.345	0.34514	D	0.70746	D;D;D;D	0.69078	0.993;0.993;0.987;0.997	P;P;P;P	0.62184	0.886;0.899;0.886;0.888	D	0.83463	0.0055	10	0.59425	D	0.04	.	6.5854	0.22618	0.3606:0.0:0.6394:0.0	.	374;336;336;336	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	N	336;374;336;336;336;336	ENSP00000262723:K336N;ENSP00000385521:K374N;ENSP00000262722:K336N;ENSP00000331544:K336N;ENSP00000393812:K336N;ENSP00000342212:K336N	ENSP00000262722:K336N	K	+	3	2	FBLN1	44315858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.482000	0.45224	1.290000	0.44636	0.655000	0.94253	AAG		0.502	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
FBLN1	2192	broad.mit.edu	37	22	45960776	45960776	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:45960776G>T	ENST00000327858.6	+	15	1792				FBLN1_ENST00000442170.2_Missense_Mutation_p.K570N|FBLN1_ENST00000348697.2_Missense_Mutation_p.K570N	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1						embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.K570N(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGAAATCCAAGAAGGGAAGGC	0.527																																					p.K570N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1710T	22						.						90.0	81.0	84.0					22																	45960776		2203	4300	6503	44339440	SO:0001627	intron_variant	2192	exon15				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1698-9615G>T	22.37:g.45960776G>T			44339440	NM_006485	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	2.602	-0.292663	0.05568	.	.	ENSG00000077942	ENST00000348697;ENST00000442170	D;D	0.83250	-1.63;-1.7	0.889	-0.249	0.13011	.	.	.	.	.	T	0.69205	0.3085	L	0.39397	1.21	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.49606	-0.8922	9	0.16896	T	0.51	.	3.2644	0.06860	0.3207:0.0:0.6793:0.0	.	570	B1AHL4	.	N	570	ENSP00000262723:K570N;ENSP00000393812:K570N	ENSP00000262723:K570N	K	+	3	2	FBLN1	44339440	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	1.214000	0.32419	-0.061000	0.13110	-0.373000	0.07131	AAG		0.527	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
PPARA	5465	broad.mit.edu	37	22	46628102	46628102	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46628102C>A	ENST00000396000.2	+	7	1390	c.1125C>A	c.(1123-1125)atC>atA	p.I375I	PPARA_ENST00000402126.1_Silent_p.I375I|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.I375I|PPARA_ENST00000407236.1_Silent_p.I375I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	375	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.I375I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	ACAGTGATATCTCCCTTTTTG	0.413																																					p.I375I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1125A	22						.						226.0	204.0	212.0					22																	46628102		2203	4300	6503	45006766	SO:0001819	synonymous_variant	5465	exon8			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.1125C>A	22.37:g.46628102C>A			45006766	NM_005036	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	CCDS33669.1																																																																																				0.413	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928	
PKDREJ	10343	broad.mit.edu	37	22	46653093	46653093	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46653093C>A	ENST00000253255.5	-	1	6126	c.6127G>T	c.(6127-6129)Gtt>Ttt	p.V2043F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2043					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.V2043F(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCTGAGAAACTGCATGAAAG	0.408																																					p.V2043F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6127T	22						.						85.0	87.0	86.0					22																	46653093		2203	4300	6503	45031757	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6127G>T	22.37:g.46653093C>A	ENSP00000253255:p.Val2043Phe		45031757	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473460	0.43942	.	.	ENSG00000130943	ENST00000253255	T	0.73575	-0.76	5.81	2.19	0.27852	Polycystin cation channel, PKD1/PKD2 (1);	0.218239	0.31507	N	0.007533	T	0.81730	0.4884	M	0.67953	2.075	0.09310	N	1	D	0.64830	0.994	D	0.70935	0.971	T	0.71520	-0.4568	10	0.72032	D	0.01	-20.5036	9.8069	0.40799	0.0:0.7412:0.0:0.2588	.	2043	Q9NTG1	PKDRE_HUMAN	F	2043	ENSP00000253255:V2043F	ENSP00000253255:V2043F	V	-	1	0	PKDREJ	45031757	0.178000	0.23122	0.019000	0.16419	0.608000	0.37181	0.409000	0.21082	0.822000	0.34565	0.508000	0.49915	GTT		0.408	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46653325	46653325	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46653325G>T	ENST00000253255.5	-	1	5894	c.5895C>A	c.(5893-5895)atC>atA	p.I1965I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1965					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.I1965I(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATACAAGTAGATTTCTGCTG	0.388																																					p.I1965I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5895A	22						.						54.0	57.0	56.0					22																	46653325		2200	4300	6500	45031989	SO:0001819	synonymous_variant	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5895C>A	22.37:g.46653325G>T			45031989	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46653409	46653409	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46653409G>T	ENST00000253255.5	-	1	5810	c.5811C>A	c.(5809-5811)gtC>gtA	p.V1937V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1937					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.V1937V(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTAACTGAGAGACTTCAAATA	0.388																																					p.V1937V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5811A	22						.						79.0	83.0	82.0					22																	46653409		2203	4300	6503	45032073	SO:0001819	synonymous_variant	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5811C>A	22.37:g.46653409G>T			45032073	NM_006071	B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	CCDS14073.1																																																																																				0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46654832	46654832	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46654832G>T	ENST00000253255.5	-	1	4387	c.4388C>A	c.(4387-4389)tCt>tAt	p.S1463Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1463					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.S1463Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTTTTGAGGAGATACCTCCTT	0.428																																					p.S1463Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4388A	22						.						107.0	100.0	103.0					22																	46654832		2203	4300	6503	45033496	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4388C>A	22.37:g.46654832G>T	ENSP00000253255:p.Ser1463Tyr		45033496	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751894	0.49362	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	4.84	3.82	0.43975	.	0.993298	0.08162	N	0.988314	T	0.35970	0.0950	L	0.50333	1.59	0.09310	N	1	P	0.46277	0.875	B	0.41510	0.359	T	0.15037	-1.0451	10	0.36615	T	0.2	-2.61	11.0976	0.48155	0.0867:0.0:0.9133:0.0	.	1463	Q9NTG1	PKDRE_HUMAN	Y	1463	ENSP00000253255:S1463Y	ENSP00000253255:S1463Y	S	-	2	0	PKDREJ	45033496	0.000000	0.05858	0.005000	0.12908	0.180000	0.23129	0.332000	0.19751	1.170000	0.42753	0.561000	0.74099	TCT		0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46655124	46655124	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46655124G>T	ENST00000253255.5	-	1	4095	c.4096C>A	c.(4096-4098)Ctc>Atc	p.L1366I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1366					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L1366I(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTTCCGGAGATTACTACTC	0.388																																					p.L1366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4096A	22						.						65.0	68.0	67.0					22																	46655124		2203	4300	6503	45033788	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4096C>A	22.37:g.46655124G>T	ENSP00000253255:p.Leu1366Ile		45033788	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774187	0.49786	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.09	0.385	0.16249	.	0.147317	0.31450	N	0.007639	T	0.55194	0.1905	M	0.62209	1.925	0.09310	N	1	D	0.76494	0.999	D	0.63113	0.911	T	0.45991	-0.9223	10	0.62326	D	0.03	-12.0809	6.131	0.20204	0.2176:0.0:0.6515:0.1309	.	1366	Q9NTG1	PKDRE_HUMAN	I	1366	ENSP00000253255:L1366I	ENSP00000253255:L1366I	L	-	1	0	PKDREJ	45033788	0.645000	0.27286	0.000000	0.03702	0.007000	0.05969	0.966000	0.29331	-0.012000	0.14223	0.511000	0.50034	CTC		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46655967	46655967	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46655967G>A	ENST00000253255.5	-	1	3252	c.3253C>T	c.(3253-3255)Cgt>Tgt	p.R1085C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1085					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R1085C(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGACAAAACGAGGTGCCTGC	0.502																																					p.R1085C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3253T	22						.						62.0	56.0	58.0					22																	46655967		2203	4300	6503	45034631	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3253C>T	22.37:g.46655967G>A	ENSP00000253255:p.Arg1085Cys		45034631	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.138986	0.21123	.	.	ENSG00000130943	ENST00000253255	T	0.37411	1.2	5.2	1.79	0.24919	.	0.740118	0.12898	N	0.430054	T	0.33673	0.0871	M	0.61703	1.905	0.09310	N	1	D	0.61697	0.99	B	0.43809	0.432	T	0.15838	-1.0423	10	0.38643	T	0.18	-2.0166	6.6372	0.22889	0.1176:0.0:0.5874:0.295	.	1085	Q9NTG1	PKDRE_HUMAN	C	1085	ENSP00000253255:R1085C	ENSP00000253255:R1085C	R	-	1	0	PKDREJ	45034631	0.003000	0.15002	0.001000	0.08648	0.023000	0.10783	1.249000	0.32839	0.660000	0.30964	-0.538000	0.04264	CGT		0.502	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46656825	46656825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46656825G>A	ENST00000253255.5	-	1	2394	c.2395C>T	c.(2395-2397)Cga>Tga	p.R799*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	799	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R799*(2)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTTCAGATCGAAAGCGTTTA	0.388																																					p.R799X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2395T	22						.						71.0	75.0	74.0					22																	46656825		2203	4300	6503	45035489	SO:0001587	stop_gained	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2395C>T	22.37:g.46656825G>A	ENSP00000253255:p.Arg799*		45035489	NM_006071	B1AJY3|O95850	Nonsense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763605	0.96906	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.31	-0.988	0.10245	.	1.194380	0.05773	N	0.607068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-1.171	1.5651	0.02602	0.1676:0.1274:0.2767:0.4283	.	.	.	.	X	799	.	ENSP00000253255:R799X	R	-	1	2	PKDREJ	45035489	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.072000	0.11486	-0.246000	0.09611	-0.274000	0.10170	CGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
TTC38	55020	broad.mit.edu	37	22	46671279	46671279	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46671279G>A	ENST00000381031.3	+	5	576	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	167						extracellular vesicular exosome (GO:0070062)		p.R167Q(1)		endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TCTGTTGCTCGAATTTACCCC	0.443																																					p.R167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	22						.						114.0	112.0	113.0					22																	46671279		1882	4102	5984	45049943	SO:0001583	missense	55020	exon5				CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.500G>A	22.37:g.46671279G>A	ENSP00000370419:p.Arg167Gln		45049943	NM_017931	Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311838	0.95655	.	.	ENSG00000075234	ENST00000381031;ENST00000421359	T	0.44083	0.93	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.83953	2.67	0.80722	D	1	D	0.56035	0.974	P	0.49683	0.619	T	0.63576	-0.6606	9	.	.	.	-10.2422	18.8363	0.92164	0.0:0.0:1.0:0.0	.	167	Q5R3I4	TTC38_HUMAN	Q	167	ENSP00000370419:R167Q	.	R	+	2	0	TTC38	45049943	1.000000	0.71417	0.962000	0.40283	0.978000	0.69477	9.189000	0.94928	2.705000	0.92388	0.650000	0.86243	CGA		0.443	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931	
GTSE1	51512	broad.mit.edu	37	22	46712304	46712304	+	Missense_Mutation	SNP	C	C	A	rs563396011		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46712304C>A	ENST00000454366.1	+	7	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294																																					p.S476Y	GBM(153;542 1915 12487 29016 50495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427A	22						.						76.0	83.0	81.0					22																	46712304		1955	4186	6141	45090968	SO:0001583	missense	51512	exon7			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1427C>A	22.37:g.46712304C>A	ENSP00000415430:p.Ser476Tyr		45090968	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783530	0.31593	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08634	3.07	4.96	2.71	0.32032	.	0.497643	0.21782	N	0.069193	T	0.21468	0.0517	M	0.64997	1.995	0.09310	N	1	D;P	0.57257	0.979;0.946	P;P	0.56960	0.81;0.74	T	0.06770	-1.0808	10	0.72032	D	0.01	-10.2378	16.3893	0.83528	0.0:0.7501:0.2499:0.0	.	457;436	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	Y	476;436	ENSP00000415430:S476Y	ENSP00000354634:S436Y	S	+	2	0	GTSE1	45090968	0.013000	0.17824	0.068000	0.19968	0.445000	0.32107	1.043000	0.30316	0.608000	0.30000	-0.810000	0.03169	TCT		0.294	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
GTSE1	51512	broad.mit.edu	37	22	46722482	46722482	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:46722482C>T	ENST00000454366.1	+	9	1867	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	533					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.A533V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGCCCAGGGCCGTGGGCTCT	0.612																																					p.A552V	GBM(153;542 1915 12487 29016 50495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1655T	22						.						55.0	51.0	52.0					22																	46722482		2203	4300	6503	45101146	SO:0001583	missense	51512	exon9			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1655C>T	22.37:g.46722482C>T	ENSP00000415430:p.Ala552Val		45101146	NM_016426	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987528	0.35036	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	3.84	2.83	0.33086	.	1.239290	0.05284	N	0.519847	T	0.19485	0.0468	M	0.62723	1.935	0.09310	N	1	P;P	0.52061	0.793;0.95	B;P	0.52066	0.272;0.689	T	0.18209	-1.0344	10	0.59425	D	0.04	-3.7404	9.4031	0.38444	0.0:0.8955:0.0:0.1045	.	533;512	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	V	552;512	ENSP00000415430:A552V	ENSP00000354634:A512V	A	+	2	0	GTSE1	45101146	0.003000	0.15002	0.016000	0.15963	0.029000	0.11900	1.352000	0.34033	1.211000	0.43351	0.491000	0.48974	GCC		0.612	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426	
GRAMD4	23151	broad.mit.edu	37	22	47022795	47022795	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:47022795C>T	ENST00000406902.1	+	2	312	c.99C>T	c.(97-99)agC>agT	p.S33S	GRAMD4_ENST00000361034.3_Silent_p.S33S|GRAMD4_ENST00000490378.1_3'UTR			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	33					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S33S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCGAATGCAGCGACGAAATCC	0.597																																					p.S33S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	22						.						141.0	114.0	123.0					22																	47022795		2203	4300	6503	45401459	SO:0001819	synonymous_variant	23151	exon1				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.99C>T	22.37:g.47022795C>T			45401459	NM_015124	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	ENST00000406902.1	37	CCDS33672.1																																																																																				0.597	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	
ZBED4	9889	broad.mit.edu	37	22	50277400	50277400	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50277400T>C	ENST00000216268.5	+	2	567	c.90T>C	c.(88-90)gaT>gaC	p.D30D		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	30	Asp/Glu-rich (acidic).					cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D30D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAGATGATGATGGAATTCCTC	0.443																																					p.D30D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T90C	22						.						62.0	73.0	70.0					22																	50277400		2203	4300	6503	48663404	SO:0001819	synonymous_variant	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.90T>C	22.37:g.50277400T>C			48663404	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	CCDS33677.1																																																																																				0.443	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
MOV10L1	54456	broad.mit.edu	37	22	50547128	50547128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50547128G>T	ENST00000262794.5	+	5	681	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.E200*|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.E200*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.E180*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	200					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E200*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGTTAGAGGAAAGCATCTT	0.567																																					p.E200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G598T	22						.						139.0	121.0	127.0					22																	50547128		2203	4300	6503	48889255	SO:0001587	stop_gained	54456	exon5			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.598G>T	22.37:g.50547128G>T	ENSP00000262794:p.Glu200*		48889255	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.438069	0.83885	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	5.28	3.2	0.36748	.	0.096709	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-31.6342	10.6893	0.45862	0.1572:0.0:0.8428:0.0	.	.	.	.	X	200;200;200;180	.	ENSP00000262794:E200X	E	+	1	0	MOV10L1	48889255	1.000000	0.71417	0.006000	0.13384	0.343000	0.28985	8.799000	0.91895	0.637000	0.30526	0.627000	0.83407	GAA		0.567	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50555698	50555698	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50555698G>A	ENST00000262794.5	+	9	1455	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E458K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E458K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E438K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	458					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E458K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTGCGCGCGAACCATTTTC	0.423																																					p.E458K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1372A	22						.						80.0	76.0	77.0					22																	50555698		2203	4300	6503	48897825	SO:0001583	missense	54456	exon9			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1372G>A	22.37:g.50555698G>A	ENSP00000262794:p.Glu458Lys		48897825	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637019	0.47049	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85773	-1.84;-1.84;-1.43;-2.03	5.76	5.76	0.90799	.	0.237801	0.43260	D	0.000585	D	0.82861	0.5129	L	0.41961	1.31	0.80722	D	1	D;P;P;P	0.58268	0.982;0.951;0.918;0.918	P;B;B;B	0.45881	0.496;0.348;0.189;0.3	T	0.79495	-0.1780	10	0.16420	T	0.52	-29.9369	18.7444	0.91787	0.0:0.0:1.0:0.0	.	219;438;458;458	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	458;458;458;438	ENSP00000438978:E458K;ENSP00000262794:E458K;ENSP00000379199:E458K;ENSP00000438542:E438K	ENSP00000262794:E458K	E	+	1	0	MOV10L1	48897825	0.426000	0.25506	0.468000	0.27192	0.010000	0.07245	2.329000	0.43876	2.716000	0.92895	0.650000	0.86243	GAA		0.423	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50563956	50563956	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50563956G>A	ENST00000262794.5	+	11	1788	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E569K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E569K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E549K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	569					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E569K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCTGGTTCTGGAGGTCCCAGG	0.488																																					p.E569K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705A	22						.						135.0	135.0	135.0					22																	50563956		2203	4300	6503	48906083	SO:0001583	missense	54456	exon11			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1705G>A	22.37:g.50563956G>A	ENSP00000262794:p.Glu569Lys		48906083	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185144	0.78677	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86432	-1.93;-1.93;-1.52;-2.12	5.41	5.41	0.78517	.	0.045500	0.85682	D	0.000000	D	0.92254	0.7543	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.982;0.993	D;D;P;P	0.79108	0.992;0.988;0.817;0.878	D	0.90661	0.4590	10	0.34782	T	0.22	-43.2942	18.3108	0.90199	0.0:0.0:1.0:0.0	.	330;549;569;569	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	569;569;569;549	ENSP00000438978:E569K;ENSP00000262794:E569K;ENSP00000379199:E569K;ENSP00000438542:E549K	ENSP00000262794:E569K	E	+	1	0	MOV10L1	48906083	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	7.303000	0.78871	2.679000	0.91253	0.544000	0.68410	GAG		0.488	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	599					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E599K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACATGCCATCGAATACATCAG	0.383																																					p.E599K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1795A	22						.						123.0	102.0	109.0					22																	50564678		2203	4300	6503	48906805	SO:0001583	missense	54456	exon12			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1795G>A	22.37:g.50564678G>A	ENSP00000262794:p.Glu599Lys		48906805	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690276	0.68271	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85629	-1.82;-1.82;-1.41;-2.01	5.46	5.46	0.80206	.	0.098399	0.64402	D	0.000002	D	0.87083	0.6089	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.98;0.98	P;P;B;B	0.56788	0.806;0.64;0.436;0.436	D	0.83584	0.0119	10	0.17369	T	0.5	-39.1041	12.5473	0.56208	0.0:0.1675:0.8325:0.0	.	360;579;599;599	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	599;599;599;579	ENSP00000438978:E599K;ENSP00000262794:E599K;ENSP00000379199:E599K;ENSP00000438542:E579K	ENSP00000262794:E599K	E	+	1	0	MOV10L1	48906805	1.000000	0.71417	0.890000	0.34922	0.929000	0.56500	4.187000	0.58344	2.542000	0.85734	0.655000	0.94253	GAA		0.383	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50572485	50572485	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50572485G>T	ENST00000262794.5	+	14	2043	c.1960G>T	c.(1960-1962)Ggt>Tgt	p.G654C	MOV10L1_ENST00000395858.3_Missense_Mutation_p.G654C|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G654C|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G634C	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	654					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.G654C(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCCACTTAGGTGTAAAAGG	0.338																																					p.G654C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1960T	22						.						105.0	94.0	98.0					22																	50572485		2203	4300	6503	48914612	SO:0001583	missense	54456	exon14			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1960G>T	22.37:g.50572485G>T	ENSP00000262794:p.Gly654Cys		48914612	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883209	0.72410	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.87809	-2.12;-2.12;-1.71;-2.3	5.78	5.78	0.91487	.	0.276964	0.42821	D	0.000642	D	0.94255	0.8155	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.998	D	0.94319	0.7552	10	0.72032	D	0.01	-31.6025	19.6307	0.95700	0.0:0.0:1.0:0.0	.	415;634;654;654	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	C	654;654;654;634	ENSP00000438978:G654C;ENSP00000262794:G654C;ENSP00000379199:G654C;ENSP00000438542:G634C	ENSP00000262794:G654C	G	+	1	0	MOV10L1	48914612	1.000000	0.71417	0.328000	0.25416	0.955000	0.61496	5.084000	0.64462	2.730000	0.93505	0.655000	0.94253	GGT		0.338	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50589166	50589166	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50589166C>T	ENST00000262794.5	+	21	2813	c.2730C>T	c.(2728-2730)atC>atT	p.I910I	MOV10L1_ENST00000395858.3_Silent_p.I910I|MOV10L1_ENST00000395852.1_Silent_p.I37I|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000545383.1_Silent_p.I910I|MOV10L1_ENST00000540615.1_Silent_p.I890I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	910					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.I910I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGCAGATCGTGCTGGCAG	0.622																																					p.I910I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2730T	22						.						103.0	74.0	84.0					22																	50589166		2202	4300	6502	48931293	SO:0001819	synonymous_variant	54456	exon21			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2730C>T	22.37:g.50589166C>T			48931293	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.622	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
TUBGCP6	85378	broad.mit.edu	37	22	50682563	50682563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50682563G>T	ENST00000248846.5	-	1	430	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.S109Y|MAPK12_ENST00000497036.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	109					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.S109Y(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTCCAAAACAGACCCCACCTC	0.582																																					p.S109Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326A	22						.						71.0	70.0	71.0					22																	50682563		2202	4300	6502	49024690	SO:0001583	missense	85378	exon1			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.326C>A	22.37:g.50682563G>T	ENSP00000248846:p.Ser109Tyr		49024690	NM_020461	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874884	0.72180	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.16073	2.78;2.37	3.97	3.97	0.46021	.	0.542047	0.18440	N	0.141178	T	0.22859	0.0552	N	0.24115	0.695	0.09310	N	1	D;D;D	0.63880	0.993;0.981;0.981	P;P;P	0.55161	0.77;0.656;0.744	T	0.07654	-1.0761	10	0.72032	D	0.01	.	16.1987	0.82053	0.0:0.0:1.0:0.0	.	109;109;109	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	Y	109	ENSP00000248846:S109Y;ENSP00000397387:S109Y	ENSP00000248846:S109Y	S	-	2	0	TUBGCP6	49024690	0.957000	0.32711	0.004000	0.12327	0.995000	0.86356	5.772000	0.68889	2.212000	0.71576	0.561000	0.74099	TCT		0.582	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
SBF1	6305	broad.mit.edu	37	22	50900671	50900671	+	Missense_Mutation	SNP	C	C	T	rs371155431		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:50900671C>T	ENST00000390679.3	-	19	2543	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	SBF1_ENST00000348911.6_Missense_Mutation_p.D788N|SBF1_ENST00000380817.3_Missense_Mutation_p.D787N			O95248	MTMR5_HUMAN	SET binding factor 1	787					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D787N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTCCAGGTCGCCCAGCCCG	0.687																																					p.D787N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2359A	22						.	C	ASN/ASP	1,4179		0,1,2089	42.0	46.0	45.0		2359	4.5	1.0	22		45	0,8408		0,0,4204	no	missense	SBF1	NM_002972.2	23	0,1,6293	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging	787/1894	50900671	1,12587	2090	4204	6294	49247537	SO:0001583	missense	6305	exon19			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2359G>A	22.37:g.50900671C>T	ENSP00000375097:p.Asp787Asn		49247537	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.056987	0.76074	2.39E-4	0.0	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.90444	-2.67;-2.65;-2.66	4.52	4.52	0.55395	.	0.192361	0.42964	D	0.000624	D	0.91590	0.7343	M	0.68952	2.095	0.80722	D	1	D;D;D	0.56287	0.975;0.969;0.958	P;B;B	0.48677	0.586;0.435;0.408	D	0.92023	0.5627	10	0.48119	T	0.1	.	17.0388	0.86483	0.0:1.0:0.0:0.0	.	787;788;787	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	N	787;788;798;797;787	ENSP00000370196:D787N;ENSP00000252027:D788N;ENSP00000375097:D787N	ENSP00000336522:D797N	D	-	1	0	SBF1	49247537	1.000000	0.71417	0.978000	0.43139	0.832000	0.47134	7.403000	0.79983	2.366000	0.80165	0.655000	0.94253	GAC		0.687	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
P2RY11	5032	broad.mit.edu	37	19	10224713	10224713	+	Nonsense_Mutation	SNP	C	C	T	rs540555966	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10224713C>T	ENST00000321826.4	+	2	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.R562*|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Nonsense_Mutation_p.R562*	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	142					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.R142*(1)|p.R562*(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AAGCCACCTGCGACCCAAGCA	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		17370	0.001		0.0	False		,,,				2504	0.001				p.R142X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C424T	19						.						61.0	55.0	57.0					19																	10224713		2203	4300	6503	10085713	SO:0001587	stop_gained	692312	exon2			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.424C>T	19.37:g.10224713C>T	ENSP00000323872:p.Arg142*		10085713	NM_002566	B2R8X9|O43190|Q9BYU4|Q9H170	Nonsense_Mutation	SNP	ENST00000321826.4	37	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208730	0.58343	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	.	.	.	4.62	3.59	0.41128	.	0.673312	0.13483	U	0.384549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-2.0047	6.9424	0.24500	0.0:0.6148:0.2905:0.0947	.	.	.	.	X	562;562;142	.	ENSP00000323872:R142X	R	+	1	2	PPAN;P2RY11;PPAN-P2RY11	10085713	0.011000	0.17503	0.062000	0.19696	0.053000	0.15095	0.081000	0.14823	1.182000	0.42928	-0.258000	0.10820	CGA		0.662	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566	
P2RY11	5032	broad.mit.edu	37	19	10225102	10225102	+	Silent	SNP	C	C	T	rs145069324		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10225102C>T	ENST00000321826.4	+	2	997	c.813C>T	c.(811-813)aaC>aaT	p.N271N	PPAN-P2RY11_ENST00000393796.4_Silent_p.N691N|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN_ENST00000556468.1_Silent_p.N691N	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	271					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)	p.N271N(1)|p.N691N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGGTGCTCAACGTGGATGCTC	0.662																																					p.N271N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C813T	19						.						57.0	55.0	56.0					19																	10225102		2203	4300	6503	10086102	SO:0001819	synonymous_variant	692312	exon2			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.813C>T	19.37:g.10225102C>T			10086102	NM_002566	B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	CCDS12226.1																																																																																				0.662	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566	
DNMT1	1786	broad.mit.edu	37	19	10265724	10265724	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10265724C>T	ENST00000340748.4	-	19	1688	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DNMT1_ENST00000540357.1_Missense_Mutation_p.E485K|DNMT1_ENST00000359526.4_Missense_Mutation_p.E501K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	485	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E485K(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGAATGTATTCGGCAAATGCT	0.537																																					p.E501K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1501A	19						.						81.0	79.0	79.0					19																	10265724		2203	4300	6503	10126724	SO:0001583	missense	1786	exon20			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1453G>A	19.37:g.10265724C>T	ENSP00000345739:p.Glu485Lys		10126724	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976226	0.74360	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.76968	-1.06;-1.06;-1.06	5.94	5.94	0.96194	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.047098	0.85682	D	0.000000	D	0.87334	0.6151	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.998	D;P;D	0.67382	0.918;0.871;0.951	D	0.86246	0.1646	10	0.48119	T	0.1	.	19.1347	0.93422	0.0:1.0:0.0:0.0	.	485;501;485	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	K	501;485;485;353	ENSP00000352516:E501K;ENSP00000440457:E485K;ENSP00000345739:E485K	ENSP00000345739:E485K	E	-	1	0	DNMT1	10126724	1.000000	0.71417	0.535000	0.28026	0.004000	0.04260	7.796000	0.85898	2.826000	0.97356	0.561000	0.74099	GAA		0.537	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
DNMT1	1786	broad.mit.edu	37	19	10283797	10283797	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10283797C>T	ENST00000340748.4	-	8	924	c.689G>A	c.(688-690)cGc>cAc	p.R230H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R230H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R246H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	230	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R230H(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTTCAGTGCGCGTTCCTGA	0.433																																					p.R246H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G737A	19						.						179.0	144.0	156.0					19																	10283797		2203	4300	6503	10144797	SO:0001583	missense	1786	exon9			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.689G>A	19.37:g.10283797C>T	ENSP00000345739:p.Arg230His		10144797	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	7.291	0.611106	0.14066	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.29142	1.91;1.58;1.58	4.17	0.79	0.18613	.	0.956050	0.08592	N	0.922803	T	0.09642	0.0237	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33979	-0.9847	10	0.15499	T	0.54	.	2.509	0.04652	0.2031:0.2374:0.0:0.5594	.	230;246;230	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	246;230;230;98	ENSP00000352516:R246H;ENSP00000440457:R230H;ENSP00000345739:R230H	ENSP00000345739:R230H	R	-	2	0	DNMT1	10144797	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.346000	0.07760	-0.032000	0.13758	-0.302000	0.09304	CGC		0.433	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ICAM4	3386	broad.mit.edu	37	19	10398694	10398694	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10398694G>A	ENST00000380770.3	+	3	776	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.R218Q|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_3'UTR|ICAM5_ENST00000221980.4_5'Flank	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	244					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)	p.R218Q(1)		breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTTGGCCTCCGGTTCCATCGC	0.607																																					p.G244S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	19						.						82.0	74.0	77.0					19																	10398694		2203	4300	6503	10259694	SO:0001583	missense	3386	exon3			X93093	CCDS12232.1, CCDS32904.1, CCDS42500.1	19p13.2	2014-07-19	2006-02-23		ENSG00000105371	ENSG00000105371		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5347	protein-coding gene	gene with protein product		614088	"""intercellular adhesion molecule 4, Landsteiner-Wiener blood group"", ""Landsteiner-Wiener blood group"", ""intercellular adhesion molecule 4 (LW blood group)"""	LW		8639917, 6431896	Standard	NM_001039132		Approved	CD242	uc002mnr.2	Q14773	OTTHUMG00000180405	ENST00000380770.3:c.730G>A	19.37:g.10398694G>A	ENSP00000370147:p.Gly244Ser		10259694	NM_001544	A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	CCDS12232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.745|3.745	-0.052793|-0.052793	0.07362|0.07362	.|.	.|.	ENSG00000105371|ENSG00000105371	ENST00000380770|ENST00000340992	T|T	0.05382|0.24908	3.45|1.83	3.94|3.94	-0.832|-0.832	0.10785|0.10785	.|.	.|4.874250	.|0.01145	.|N	.|0.006290	T|T	0.16981|0.16981	0.0408|0.0408	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999986|0.999986	B|B	0.02656|0.16603	0.0|0.018	B|B	0.01281|0.06405	0.0|0.002	T|T	0.26815|0.26815	-1.0092|-1.0092	8|9	0.17832|0.87932	T|D	0.49|0	-5.2662|-5.2662	0.4903|0.4903	0.00563|0.00563	0.4335:0.1808:0.2106:0.1751|0.4335:0.1808:0.2106:0.1751	.|.	244|218	Q14773|Q9BWR0	ICAM4_HUMAN|.	S|Q	244|218	ENSP00000370147:G244S|ENSP00000342114:R218Q	ENSP00000370147:G244S|ENSP00000342114:R218Q	G|R	+|+	1|2	0|0	ICAM4|ICAM4	10259694|10259694	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	-0.933000|-0.933000	0.03959|0.03959	-0.249000|-0.249000	0.09569|0.09569	-1.286000|-1.286000	0.01371|0.01371	GGT|CGG		0.607	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544	
ICAM5	7087	broad.mit.edu	37	19	10404499	10404499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10404499G>T	ENST00000221980.4	+	7	1654	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	531	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.E531*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCTCTGGAGAACTCGGGGC	0.652																																					p.E531X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1591T	19						.						81.0	86.0	84.0					19																	10404499		2203	4300	6503	10265499	SO:0001587	stop_gained	7087	exon7			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1591G>T	19.37:g.10404499G>T	ENSP00000221980:p.Glu531*		10265499	NM_003259	Q9Y6F3	Nonsense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046284	0.75846	.	.	ENSG00000105376	ENST00000221980	.	.	.	4.85	1.49	0.22878	.	1.082640	0.07104	N	0.841035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-1.9535	4.4201	0.11476	0.2094:0.186:0.6047:0.0	.	.	.	.	X	531	.	ENSP00000221980:E531X	E	+	1	0	ICAM5	10265499	0.001000	0.12720	0.008000	0.14137	0.051000	0.14879	0.096000	0.15147	0.228000	0.21019	0.448000	0.29417	GAA		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
ATG4D	84971	broad.mit.edu	37	19	10655657	10655657	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10655657A>G	ENST00000309469.4	+	3	517	c.344A>G	c.(343-345)gAc>gGc	p.D115G	ATG4D_ENST00000540862.1_5'Flank	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	115					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.D115G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTCCAGCGGGACTTTGTGTCC	0.672																																					p.D115G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A344G	19						.						88.0	97.0	94.0					19																	10655657		2203	4300	6503	10516657	SO:0001583	missense	84971	exon3			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.344A>G	19.37:g.10655657A>G	ENSP00000311318:p.Asp115Gly		10516657	NM_032885	Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006589	0.54361	.	.	ENSG00000130734	ENST00000309469	T	0.49720	0.77	5.06	5.06	0.68205	.	0.299176	0.35466	N	0.003190	T	0.74574	0.3734	M	0.93062	3.375	0.80722	D	1	D;D;D	0.76494	0.998;0.985;0.999	D;P;D	0.73380	0.968;0.703;0.98	T	0.81688	-0.0819	10	0.87932	D	0	3.1986	13.7664	0.62997	1.0:0.0:0.0:0.0	.	52;138;115	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	G	115	ENSP00000311318:D115G	ENSP00000311318:D115G	D	+	2	0	ATG4D	10516657	1.000000	0.71417	0.985000	0.45067	0.004000	0.04260	4.160000	0.58164	1.895000	0.54865	0.523000	0.50628	GAC		0.672	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885	
ILF3	3609	broad.mit.edu	37	19	10799332	10799332	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10799332C>A	ENST00000590261.1	+	18	2529	c.2529C>A	c.(2527-2529)ggC>ggA	p.G843G	ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Silent_p.G847G|ILF3_ENST00000318511.3_Silent_p.G843G|ILF3_ENST00000449870.1_Silent_p.G847G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	843	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G843G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTGGGGGCGGCTCCTCATACC	0.672																																					p.G843G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2529A	19						.						45.0	56.0	53.0					19																	10799332		2202	4298	6500	10660332	SO:0001819	synonymous_variant	3609	exon19			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2529C>A	19.37:g.10799332C>A			10660332	NM_012218	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.672	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
DNM2	1785	broad.mit.edu	37	19	10904493	10904493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10904493C>T	ENST00000355667.6	+	8	1170	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	DNM2_ENST00000389253.4_Missense_Mutation_p.R364C|DNM2_ENST00000314646.5_Missense_Mutation_p.R364C|DNM2_ENST00000359692.6_Missense_Mutation_p.R364C|DNM2_ENST00000585892.1_Missense_Mutation_p.R364C|DNM2_ENST00000408974.4_Missense_Mutation_p.R364C	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	364					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.R364C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCGAATCAATCGCATCTTCCA	0.617			"""F, N, Splice, Mis, O"""		ETP ALL																																p.R364C			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1090T	19						.						95.0	101.0	99.0					19																	10904493		2203	4300	6503	10765493	SO:0001583	missense	1785	exon8				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1090C>T	19.37:g.10904493C>T	ENSP00000347890:p.Arg364Cys		10765493	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591650	0.86953	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	4.93	3.9	0.45041	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.86130	0.5859	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.77004	0.989;0.953;0.944;0.954;0.954	D	0.87648	0.2526	10	0.87932	D	0	-1.1672	12.1648	0.54123	0.0:0.9156:0.0:0.0844	.	97;364;364;364;364	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	C	353;364;364;364;364;364	ENSP00000386192:R364C;ENSP00000347890:R364C;ENSP00000352721:R364C;ENSP00000373905:R364C;ENSP00000313164:R364C	ENSP00000313164:R364C	R	+	1	0	DNM2	10765493	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.818000	0.86416	1.072000	0.40860	0.655000	0.94253	CGC		0.617	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
DNM2	1785	broad.mit.edu	37	19	10906768	10906768	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10906768G>A	ENST00000355667.6	+	10	1308	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_ENST00000389253.4_Intron|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000359692.6_Missense_Mutation_p.E410K|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000408974.4_Intron	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	410					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.E410K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512			"""F, N, Splice, Mis, O"""		ETP ALL																																p.E410K			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	19						.						141.0	135.0	137.0					19																	10906768		2203	4300	6503	10767768	SO:0001583	missense	1785	exon10				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1228G>A	19.37:g.10906768G>A	ENSP00000347890:p.Glu410Lys		10767768	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Intron	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435774	0.96168	.	.	ENSG00000079805	ENST00000355667;ENST00000359692	T;T	0.76709	-1.04;-1.04	4.7	4.7	0.59300	Dynamin central domain (1);	.	.	.	.	D	0.92057	0.7483	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;0.966;0.996	D;P;P	0.87578	0.998;0.771;0.905	D	0.94865	0.8025	9	0.87932	D	0	.	16.4349	0.83872	0.0:0.0:1.0:0.0	.	4;410;410	Q8N1K8;P50570-2;P50570	.;.;DYN2_HUMAN	K	410	ENSP00000347890:E410K;ENSP00000352721:E410K	ENSP00000347890:E410K	E	+	1	0	DNM2	10767768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.174000	0.68829	0.561000	0.74099	GAG		0.512	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
DNM2	1785	broad.mit.edu	37	19	10935751	10935751	+	Missense_Mutation	SNP	G	G	A	rs587778236		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10935751G>A	ENST00000355667.6	+	18	1992	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	DNM2_ENST00000389253.4_Missense_Mutation_p.A638T|DNM2_ENST00000314646.5_Missense_Mutation_p.A638T|DNM2_ENST00000359692.6_Missense_Mutation_p.A634T|DNM2_ENST00000585892.1_Missense_Mutation_p.A638T|DNM2_ENST00000408974.4_Missense_Mutation_p.A634T	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.A634T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGAGGATGGGGCCCAGGAGAA	0.587			"""F, N, Splice, Mis, O"""		ETP ALL																																p.A638T			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1912A	19						.						102.0	97.0	99.0					19																	10935751		2203	4300	6503	10796751	SO:0001583	missense	1785	exon18				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1912G>A	19.37:g.10935751G>A	ENSP00000347890:p.Ala638Thr		10796751	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	5.805	0.332840	0.11013	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.92348	-3.02;-3.02;-3.02	5.27	4.24	0.50183	.	0.570822	0.18012	N	0.154535	T	0.77363	0.4119	N	0.02213	-0.635	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.001;0.001;0.003;0.001;0.001	T	0.63202	-0.6690	10	0.12766	T	0.61	-1.8566	9.0343	0.36277	0.1707:0.0:0.8293:0.0	.	232;367;634;634;638;638	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	T	634;634;638;638;638;245	ENSP00000386192:A634T;ENSP00000373905:A638T;ENSP00000313164:A638T	ENSP00000313164:A638T	A	+	1	0	DNM2	10796751	0.126000	0.22350	0.005000	0.12908	0.006000	0.05464	1.566000	0.36396	1.226000	0.43582	0.563000	0.77884	GCC		0.587	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
DNM2	1785	broad.mit.edu	37	19	10939861	10939861	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10939861C>T	ENST00000355667.6	+	19	2288	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	DNM2_ENST00000389253.4_Silent_p.I736I|DNM2_ENST00000314646.5_Silent_p.I736I|DNM2_ENST00000359692.6_Silent_p.I732I|DNM2_ENST00000585892.1_Silent_p.I736I|DNM2_ENST00000408974.4_Silent_p.I732I	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	736	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.I732I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCAACATCATCGGTGACATCA	0.637			"""F, N, Splice, Mis, O"""		ETP ALL																																p.I736I			Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2208T	19						.						89.0	66.0	73.0					19																	10939861		2203	4300	6503	10800861	SO:0001819	synonymous_variant	1785	exon19				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2208C>T	19.37:g.10939861C>T			10800861	NM_001190716	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	CCDS45968.1																																																																																				0.637	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
SMARCA4	6597	broad.mit.edu	37	19	11152012	11152012	+	Silent	SNP	C	C	T	rs577059244		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11152012C>T	ENST00000429416.3	+	31	4481	c.4200C>T	c.(4198-4200)atC>atT	p.I1400I	SMARCA4_ENST00000589677.1_Silent_p.I1370I|SMARCA4_ENST00000358026.2_Silent_p.I1432I|SMARCA4_ENST00000541122.2_Silent_p.I1370I|SMARCA4_ENST00000344626.4_Silent_p.I1400I|SMARCA4_ENST00000413806.3_Silent_p.I1370I|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Silent_p.I1367I|SMARCA4_ENST00000590574.1_Silent_p.I1367I|SMARCA4_ENST00000450717.3_Silent_p.I1370I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1400					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.I1400I(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGAGGAGATCGAAGAGGAGG	0.622			"""F, N, Mis"""		NSCLC																																p.I1400I			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C4200T	19						.						56.0	66.0	63.0					19																	11152012		2203	4299	6502	11013012	SO:0001819	synonymous_variant	6597	exon30			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4200C>T	19.37:g.11152012C>T			11013012	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194359	0.22037	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.38	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.3815	5.8667	0.18779	0.0:0.6953:0.0:0.3047	.	.	.	.	X	172	.	.	R	+	1	2	SMARCA4	11013012	0.078000	0.21339	1.000000	0.80357	0.994000	0.84299	-0.670000	0.05256	1.061000	0.40601	0.467000	0.42956	CGA		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
LDLR	3949	broad.mit.edu	37	19	11224281	11224281	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11224281G>A	ENST00000558518.1	+	10	1616	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	LDLR_ENST00000545707.1_Missense_Mutation_p.D350N|LDLR_ENST00000535915.1_Missense_Mutation_p.D436N|LDLR_ENST00000558013.1_Missense_Mutation_p.D477N|LDLR_ENST00000455727.2_Missense_Mutation_p.D309N|LDLR_ENST00000557933.1_Missense_Mutation_p.D477N	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	477					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D477N(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCAGGCCCCCGACGGGCTGGC	0.597																																					p.D356N	GBM(18;201 575 7820 21545)											.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|lung(1)	c.G1066A	19	GRCh37	CM055369	LDLR	M		.						50.0	48.0	49.0					19																	11224281		2203	4299	6502	11085281	SO:0001583	missense	3949	exon9			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1429G>A	19.37:g.11224281G>A	ENSP00000454071:p.Asp477Asn		11085281	NM_001195802	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252249	0.95336	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.95656	-3.77;-3.77;-3.77	4.72	4.72	0.59763	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000012	D	0.97766	0.9267	M	0.86420	2.815	0.58432	D	0.999999	D;P;D;D;D;D	0.64830	0.994;0.813;0.989;0.97;0.989;0.98	D;P;D;P;D;D	0.71414	0.973;0.839;0.947;0.881;0.961;0.947	D	0.98126	1.0428	10	0.49607	T	0.09	.	16.4495	0.83974	0.0:0.0:1.0:0.0	.	309;350;356;436;489;477	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	N	477;350;436;309	ENSP00000437639:D350N;ENSP00000440520:D436N;ENSP00000397829:D309N	ENSP00000252444:D477N	D	+	1	0	LDLR	11085281	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	6.083000	0.71326	2.186000	0.69663	0.555000	0.69702	GAC		0.597	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
ZNF653	115950	broad.mit.edu	37	19	11609150	11609150	+	Missense_Mutation	SNP	G	G	A	rs200796254		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11609150G>A	ENST00000293771.5	-	2	440	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ZNF653_ENST00000593191.1_5'UTR|CTC-398G3.6_ENST00000585656.1_Silent_p.S72S	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	102					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.P102S(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGCTCCCAAGGCTTCCTGCAA	0.572																																					p.P102S	Pancreas(83;980 1446 4542 6441 43352)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304T	19						.						165.0	159.0	161.0					19																	11609150		2203	4300	6503	11470150	SO:0001583	missense	115950	exon2			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.304C>T	19.37:g.11609150G>A	ENSP00000293771:p.Pro102Ser		11470150	NM_138783	Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	g	19.74	3.884741	0.72410	.	.	ENSG00000161914	ENST00000293771	T	0.10382	2.88	4.7	4.7	0.59300	.	0.278447	0.32314	N	0.006263	T	0.10766	0.0263	L	0.27053	0.805	0.36924	D	0.891527	D	0.54207	0.965	B	0.43950	0.437	T	0.10800	-1.0614	10	0.87932	D	0	-6.0817	14.8961	0.70644	0.0:0.0:1.0:0.0	.	102	Q96CK0	ZN653_HUMAN	S	102	ENSP00000293771:P102S	ENSP00000293771:P102S	P	-	1	0	ZNF653	11470150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.620000	0.54203	2.309000	0.77851	0.556000	0.70494	CCT		0.572	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783	
ZNF627	199692	broad.mit.edu	37	19	11728118	11728118	+	Missense_Mutation	SNP	G	G	A	rs377017181	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11728118G>A	ENST00000361113.5	+	4	1008	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	267					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.R267Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGTACATTCGAATCCATGAA	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		22567	0.0		0.0	False		,,,				2504	0.002				p.R267Q	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800A	19						.	G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	53.0	56.0	55.0		800	-1.2	0.0	19		55	0,8600		0,0,4300	no	missense	ZNF627	NM_145295.3	43	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	267/462	11728118	1,13001	2201	4300	6501	11589118	SO:0001583	missense	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.800G>A	19.37:g.11728118G>A	ENSP00000354414:p.Arg267Gln		11589118	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	10.37	1.330411	0.24167	2.27E-4	0.0	ENSG00000198551	ENST00000361113	T	0.04275	3.66	1.36	-1.24	0.09435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.13327	0.33	0.09310	N	1	P	0.52316	0.952	B	0.41917	0.37	T	0.33317	-0.9873	9	0.11485	T	0.65	.	2.0859	0.03645	0.3657:0.0:0.3838:0.2505	.	267	Q7L945	ZN627_HUMAN	Q	267	ENSP00000354414:R267Q	ENSP00000354414:R267Q	R	+	2	0	ZNF627	11589118	0.000000	0.05858	0.002000	0.10522	0.763000	0.43281	-2.384000	0.01063	-0.227000	0.09884	0.313000	0.20887	CGA		0.443	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF627	199692	broad.mit.edu	37	19	11728370	11728370	+	Missense_Mutation	SNP	G	G	A	rs72489416		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11728370G>A	ENST00000361113.5	+	4	1260	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R351Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTCATTTCGAATCCATGAA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		20915	0.001		0.0	False		,,,				2504	0.0				p.R351Q	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1052A	19						.						67.0	72.0	70.0					19																	11728370		2199	4299	6498	11589370	SO:0001583	missense	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1052G>A	19.37:g.11728370G>A	ENSP00000354414:p.Arg351Gln		11589370	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	6.405	0.442901	0.12164	.	.	ENSG00000198551	ENST00000361113	T	0.04275	3.66	1.49	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	P	0.43750	0.816	B	0.35813	0.211	T	0.30149	-0.9988	9	0.02654	T	1	.	5.212	0.15322	0.6002:0.0:0.3998:0.0	.	351	Q7L945	ZN627_HUMAN	Q	351	ENSP00000354414:R351Q	ENSP00000354414:R351Q	R	+	2	0	ZNF627	11589370	0.000000	0.05858	0.002000	0.10522	0.987000	0.75469	-1.229000	0.02945	-0.224000	0.09928	0.460000	0.39030	CGA		0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF627	199692	broad.mit.edu	37	19	11728453	11728453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11728453C>T	ENST00000361113.5	+	4	1343	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R379*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGTTCGTTTCGAAAACATGA	0.418																																					p.R379X	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1135T	19						.						45.0	49.0	48.0					19																	11728453		2197	4298	6495	11589453	SO:0001587	stop_gained	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1135C>T	19.37:g.11728453C>T	ENSP00000354414:p.Arg379*		11589453	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	37	6.009776	0.97200	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.5	0.272	0.15645	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6348	0.04955	0.0:0.4661:0.323:0.211	.	.	.	.	X	379	.	ENSP00000354414:R379X	R	+	1	2	ZNF627	11589453	0.000000	0.05858	0.000000	0.03702	0.937000	0.57800	-1.302000	0.02746	0.150000	0.19136	0.467000	0.42956	CGA		0.418	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF823	55552	broad.mit.edu	37	19	11833351	11833351	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11833351T>G	ENST00000341191.6	-	4	1151	c.998A>C	c.(997-999)aAa>aCa	p.K333T	ZNF823_ENST00000545749.1_Missense_Mutation_p.K151T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	333					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.K333T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TATCTTACATTTATGTGGTCC	0.423										HNSCC(68;0.2)																											p.K333T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A998C	19						.						144.0	138.0	140.0					19																	11833351		2203	4300	6503	11694351	SO:0001583	missense	55552	exon4			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.998A>C	19.37:g.11833351T>G	ENSP00000340683:p.Lys333Thr		11694351	NM_001080493	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	t	15.37	2.814940	0.50527	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.08458	3.09;3.09;3.09	0.632	0.632	0.17705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.05050	-0.12	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29731	-1.0002	9	0.62326	D	0.03	.	4.5828	0.12267	0.0:0.0:0.3312:0.6688	.	333	P16415	ZN823_HUMAN	T	151;333;289	ENSP00000440162:K151T;ENSP00000340683:K333T;ENSP00000410654:K289T	ENSP00000340683:K333T	K	-	2	0	ZNF823	11694351	0.000000	0.05858	0.007000	0.13788	0.875000	0.50365	-0.535000	0.06142	0.519000	0.28406	0.248000	0.18094	AAA		0.423	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493	
ZNF823	55552	broad.mit.edu	37	19	11833825	11833825	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11833825G>T	ENST00000341191.6	-	4	677	c.524C>A	c.(523-525)tCt>tAt	p.S175Y	ZNF823_ENST00000545749.1_5'UTR|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	175					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.S175Y(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GTTTCCAAGAGAACTAAAGGT	0.463										HNSCC(68;0.2)																											p.S175Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C524A	19						.						111.0	117.0	115.0					19																	11833825		2189	4289	6478	11694825	SO:0001583	missense	55552	exon4			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.524C>A	19.37:g.11833825G>T	ENSP00000340683:p.Ser175Tyr		11694825	NM_001080493	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	g	3.280	-0.147245	0.06627	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.15372	2.43;2.43	0.633	0.633	0.17712	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19525	0.0469	L	0.35854	1.095	0.19300	N	0.999976	D	0.69078	0.997	P	0.60682	0.878	T	0.05767	-1.0865	9	0.02654	T	1	.	8.7985	0.34894	0.0:0.0:1.0:0.0	.	175	P16415	ZN823_HUMAN	Y	175;131	ENSP00000340683:S175Y;ENSP00000410654:S131Y	ENSP00000340683:S175Y	S	-	2	0	ZNF823	11694825	0.000000	0.05858	0.053000	0.19242	0.516000	0.34256	-7.293000	0.00039	0.627000	0.30340	0.298000	0.19748	TCT		0.463	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493	
ZNF823	55552	broad.mit.edu	37	19	11834017	11834017	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11834017G>A	ENST00000341191.6	-	4	485	c.332C>T	c.(331-333)tCg>tTg	p.S111L	ZNF823_ENST00000545749.1_5'UTR|ZNF823_ENST00000440527.1_3'UTR|CTC-499B15.6_ENST00000586983.1_RNA	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S111L(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTAAGAGACGAATGACCCAA	0.433										HNSCC(68;0.2)																											p.S111L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C332T	19						.						159.0	151.0	154.0					19																	11834017		2202	4300	6502	11695017	SO:0001583	missense	55552	exon4			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.332C>T	19.37:g.11834017G>A	ENSP00000340683:p.Ser111Leu		11695017	NM_001080493	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	g	7.936	0.741774	0.15642	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.07444	4.09;3.19	0.632	0.632	0.17705	.	.	.	.	.	T	0.13114	0.0318	M	0.85542	2.76	0.09310	N	0.999992	B	0.19583	0.037	B	0.13407	0.009	T	0.19844	-1.0293	9	0.66056	D	0.02	.	7.1241	0.25461	1.0E-4:0.0:0.9999:0.0	.	111	P16415	ZN823_HUMAN	L	111;67	ENSP00000340683:S111L;ENSP00000410654:S67L	ENSP00000340683:S111L	S	-	2	0	ZNF823	11695017	0.000000	0.05858	0.009000	0.14445	0.043000	0.13939	-0.975000	0.03790	0.618000	0.30179	0.298000	0.19748	TCG		0.433	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493	
ZNF491	126069	broad.mit.edu	37	19	11917528	11917528	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11917528C>T	ENST00000323169.5	+	3	1091	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	254					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.R254C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGCATTATCTCGCCTTATAAG	0.413																																					p.R254C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C760T	19						.						59.0	60.0	59.0					19																	11917528		2203	4300	6503	11778528	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.760C>T	19.37:g.11917528C>T	ENSP00000313443:p.Arg254Cys		11778528	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	c	2.169	-0.390313	0.04932	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.16196	2.36	0.981	-0.117	0.13551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.28776	0.89	0.09310	N	1	D	0.60160	0.987	P	0.46940	0.532	T	0.17319	-1.0373	9	0.36615	T	0.2	.	3.6526	0.08209	0.2298:0.599:0.0:0.1712	.	254	Q8N8L2	ZN491_HUMAN	C	254;226	ENSP00000313443:R254C	ENSP00000313443:R254C	R	+	1	0	ZNF491	11778528	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.840000	0.00179	-0.065000	0.13021	-0.687000	0.03738	CGC		0.413	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF491	126069	broad.mit.edu	37	19	11917796	11917796	+	Missense_Mutation	SNP	G	G	A	rs368005368		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11917796G>A	ENST00000323169.5	+	3	1359	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	343					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.R343Q(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGTACATTCGAATACATGGA	0.433																																					p.R343Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1028A	19						.						63.0	64.0	64.0					19																	11917796		2203	4300	6503	11778796	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1028G>A	19.37:g.11917796G>A	ENSP00000313443:p.Arg343Gln		11778796	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.677593	0.00751	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.15256	2.44	0.874	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.16201	0.385	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39272	-0.9622	9	0.17832	T	0.49	.	4.4157	0.11455	0.4713:0.2738:0.2549:0.0	.	343	Q8N8L2	ZN491_HUMAN	Q	343;315	ENSP00000313443:R343Q	ENSP00000313443:R343Q	R	+	2	0	ZNF491	11778796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.432000	0.01022	-1.558000	0.01690	-1.386000	0.01163	CGA		0.433	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF491	126069	broad.mit.edu	37	19	11917883	11917883	+	Missense_Mutation	SNP	G	G	T	rs568248545		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11917883G>T	ENST00000323169.5	+	3	1446	c.1115G>T	c.(1114-1116)aGa>aTa	p.R372I	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	372					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.R372I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						TCCTTTCATAGACATGAAAGG	0.393																																					p.R372I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115T	19						.						54.0	57.0	56.0					19																	11917883		2203	4300	6503	11778883	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1115G>T	19.37:g.11917883G>T	ENSP00000313443:p.Arg372Ile		11778883	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.308499	0.00237	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.26223	1.75	0.981	-1.96	0.07525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18299	0.0439	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.34304	-0.9834	9	0.18276	T	0.48	.	3.0758	0.06246	0.1643:0.1397:0.5558:0.1402	.	372	Q8N8L2	ZN491_HUMAN	I	372;344	ENSP00000313443:R372I	ENSP00000313443:R372I	R	+	2	0	ZNF491	11778883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.939000	0.00330	-3.119000	0.00239	-1.358000	0.01219	AGA		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF440	126070	broad.mit.edu	37	19	11942750	11942750	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11942750A>C	ENST00000304060.5	+	4	923	c.759A>C	c.(757-759)gaA>gaC	p.E253D		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	253					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.E253D(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACTGGAGAAAAGCCTTATG	0.388																																					p.E253D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A759C	19						.						64.0	67.0	66.0					19																	11942750		2199	4298	6497	11803750	SO:0001583	missense	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.759A>C	19.37:g.11942750A>C	ENSP00000305373:p.Glu253Asp		11803750	NM_152357	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	14.83	2.653917	0.47362	.	.	ENSG00000171295	ENST00000304060;ENST00000427505	T;T	0.26810	1.71;1.71	1.19	-1.35	0.09114	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25975	0.0633	L	0.57536	1.79	0.26414	N	0.976214	B	0.24368	0.102	B	0.34346	0.18	T	0.42258	-0.9462	9	0.54805	T	0.06	.	6.1863	0.20500	0.3334:0.0:0.6666:0.0	.	253	Q8IYI8	ZN440_HUMAN	D	253;256	ENSP00000305373:E253D;ENSP00000393489:E256D	ENSP00000305373:E253D	E	+	3	2	ZNF440	11803750	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-1.271000	0.02828	-0.350000	0.08262	0.172000	0.16884	GAA		0.388	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF440	126070	broad.mit.edu	37	19	11943750	11943750	+	Missense_Mutation	SNP	G	G	A	rs555345914		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11943750G>A	ENST00000304060.5	+	4	1923	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	587					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.E587K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGAACCTTCGAATTCATGAA	0.443																																					p.E587K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1759A	19						.						60.0	59.0	59.0					19																	11943750		2184	4287	6471	11804750	SO:0001583	missense	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1759G>A	19.37:g.11943750G>A	ENSP00000305373:p.Glu587Lys		11804750	NM_152357	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	2.736	-0.263412	0.05754	.	.	ENSG00000171295	ENST00000304060	T	0.05025	3.51	0.763	-1.2	0.09554	.	.	.	.	.	T	0.03263	0.0095	N	0.12920	0.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43196	-0.9406	9	0.39692	T	0.17	.	3.115	0.06371	0.312:0.2668:0.4212:0.0	.	587	Q8IYI8	ZN440_HUMAN	K	587	ENSP00000305373:E587K	ENSP00000305373:E587K	E	+	1	0	ZNF440	11804750	.	.	0.001000	0.08648	0.009000	0.06853	.	.	-0.186000	0.10533	-1.050000	0.02344	GAA		0.443	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF439	90594	broad.mit.edu	37	19	11977403	11977403	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11977403G>T	ENST00000304030.2	+	2	427	c.227G>T	c.(226-228)aGa>aTa	p.R76I	ZNF439_ENST00000455282.1_5'UTR|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R76I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AACCCCAGGAGAAACTTCAGG	0.323																																					p.R76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227T	19						.						88.0	89.0	88.0					19																	11977403		2202	4299	6501	11838403	SO:0001583	missense	90594	exon2			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.227G>T	19.37:g.11977403G>T	ENSP00000305077:p.Arg76Ile		11838403	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.304099	0.40795	.	.	ENSG00000171291	ENST00000442091;ENST00000304030	T;T	0.08458	5.03;3.09	1.31	-2.1	0.07210	Krueppel-associated box (2);	.	.	.	.	T	0.14442	0.0349	M	0.71036	2.16	0.09310	N	1	P	0.47034	0.889	P	0.50617	0.646	T	0.09443	-1.0674	9	0.87932	D	0	.	5.3293	0.15924	0.5716:0.0:0.4284:0.0	.	76	Q8NDP4	ZN439_HUMAN	I	63;76	ENSP00000388234:R63I;ENSP00000305077:R76I	ENSP00000305077:R76I	R	+	2	0	ZNF439	11838403	0.006000	0.16342	0.001000	0.08648	0.423000	0.31445	-0.179000	0.09768	-0.725000	0.04901	0.194000	0.17425	AGA		0.323	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11978387	11978387	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11978387G>A	ENST00000304030.2	+	3	703	c.503G>A	c.(502-504)aGa>aAa	p.R168K	ZNF439_ENST00000455282.1_Missense_Mutation_p.R32K|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	168					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.R168K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAAGCCTTCAGATATCACCCC	0.398																																					p.R168K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	19						.						147.0	142.0	144.0					19																	11978387		2203	4300	6503	11839387	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.503G>A	19.37:g.11978387G>A	ENSP00000305077:p.Arg168Lys		11839387	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	4.748	0.139155	0.09083	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.20200	2.09;2.09	0.575	-1.15	0.09709	.	.	.	.	.	T	0.13200	0.0320	N	0.16862	0.45	0.09310	N	1	B	0.29270	0.24	B	0.36766	0.232	T	0.37430	-0.9706	9	0.42905	T	0.14	.	5.9344	0.19156	0.0:0.0:0.492:0.508	.	168	Q8NDP4	ZN439_HUMAN	K	32;168	ENSP00000395632:R32K;ENSP00000305077:R168K	ENSP00000305077:R168K	R	+	2	0	ZNF439	11839387	.	.	0.000000	0.03702	0.008000	0.06430	.	.	-0.470000	0.06901	0.194000	0.17425	AGA		0.398	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11978601	11978601	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11978601G>T	ENST00000304030.2	+	3	917	c.717G>T	c.(715-717)gaG>gaT	p.E239D	ZNF439_ENST00000455282.1_Missense_Mutation_p.E103D|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E239D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACACTGGAGAGAAACCGTATG	0.368																																					p.E239D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G717T	19						.						86.0	85.0	85.0					19																	11978601		2203	4300	6503	11839601	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.717G>T	19.37:g.11978601G>T	ENSP00000305077:p.Glu239Asp		11839601	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.368691	0.42003	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.26810	1.71;1.71	0.575	-1.0	0.10196	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	L	0.46670	1.46	0.27193	N	0.960361	P	0.46987	0.888	P	0.55871	0.786	T	0.21075	-1.0256	9	0.66056	D	0.02	.	3.5981	0.08014	0.2094:0.2546:0.536:0.0	.	239	Q8NDP4	ZN439_HUMAN	D	103;239	ENSP00000395632:E103D;ENSP00000305077:E239D	ENSP00000305077:E239D	E	+	3	2	ZNF439	11839601	0.971000	0.33674	0.052000	0.19188	0.293000	0.27360	0.303000	0.19210	-0.341000	0.08376	0.194000	0.17425	GAG		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11978669	11978669	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11978669G>T	ENST00000304030.2	+	3	985	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ZNF439_ENST00000455282.1_Missense_Mutation_p.R126I|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R262I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATACATGAAAGAACTCACATT	0.398																																					p.R262I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G785T	19						.						75.0	75.0	75.0					19																	11978669		2203	4300	6503	11839669	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.785G>T	19.37:g.11978669G>T	ENSP00000305077:p.Arg262Ile		11839669	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	12.38	1.920213	0.33908	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.24908	1.83;1.83	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39572	0.1083	M	0.63428	1.95	0.36993	D	0.894892	D	0.89917	1.0	D	0.87578	0.998	T	0.42949	-0.9421	9	0.48119	T	0.1	.	4.4707	0.11712	0.2512:0.0:0.7487:0.0	.	262	Q8NDP4	ZN439_HUMAN	I	126;262	ENSP00000395632:R126I;ENSP00000305077:R262I	ENSP00000305077:R262I	R	+	2	0	ZNF439	11839669	0.000000	0.05858	0.206000	0.23566	0.142000	0.21351	-2.386000	0.01061	0.623000	0.30267	0.306000	0.20318	AGA		0.398	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF439	90594	broad.mit.edu	37	19	11978921	11978921	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11978921G>T	ENST00000304030.2	+	3	1237	c.1037G>T	c.(1036-1038)aGa>aTa	p.R346I	ZNF439_ENST00000455282.1_Missense_Mutation_p.R210I|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	346					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.R346I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACACACATAAGAATGCACTCT	0.383																																					p.R346I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037T	19						.						92.0	93.0	92.0					19																	11978921		2203	4300	6503	11839921	SO:0001583	missense	90594	exon3			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1037G>T	19.37:g.11978921G>T	ENSP00000305077:p.Arg346Ile		11839921	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	9.673	1.147234	0.21288	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.24908	1.83;1.83	0.575	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33265	0.0857	M	0.64170	1.965	0.09310	N	1	D	0.59767	0.986	P	0.54856	0.762	T	0.19257	-1.0311	9	0.38643	T	0.18	.	6.5091	0.22212	0.0:0.0:0.7127:0.2872	.	346	Q8NDP4	ZN439_HUMAN	I	210;346	ENSP00000395632:R210I;ENSP00000305077:R346I	ENSP00000305077:R346I	R	+	2	0	ZNF439	11839921	0.000000	0.05858	0.002000	0.10522	0.212000	0.24457	0.065000	0.14466	-0.365000	0.08076	0.194000	0.17425	AGA		0.383	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF700	90592	broad.mit.edu	37	19	12060000	12060000	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12060000G>T	ENST00000254321.5	+	4	1304	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.E369D	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	387					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.E387D(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACACTGGAGAGAAACGCTATA	0.378																																					p.E387D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1161T	19						.						52.0	55.0	54.0					19																	12060000		2203	4300	6503	11921000	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1161G>T	19.37:g.12060000G>T	ENSP00000254321:p.Glu387Asp		11921000	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.361507	0.24684	.	.	ENSG00000196757	ENST00000254321	T	0.26810	1.71	0.672	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20373	0.0490	L	0.41824	1.3	0.28969	N	0.88937	B	0.06786	0.001	B	0.13407	0.009	T	0.22836	-1.0205	9	0.59425	D	0.04	.	8.8188	0.35011	0.0:0.0:1.0:0.0	.	387	Q9H0M5	ZN700_HUMAN	D	387	ENSP00000254321:E387D	ENSP00000254321:E387D	E	+	3	2	ZNF700	11921000	0.457000	0.25752	0.466000	0.27168	0.220000	0.24768	0.147000	0.16202	0.623000	0.30267	0.305000	0.20034	GAG		0.378	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF433	163059	broad.mit.edu	37	19	12128714	12128714	+	Silent	SNP	G	G	A	rs200983088		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12128714G>A	ENST00000344980.6	-	3	347	c.177C>T	c.(175-177)taC>taT	p.Y59Y	CTD-2006C1.10_ENST00000547473.1_3'UTR|ZNF433_ENST00000419886.2_Silent_p.Y24Y|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y59Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TTAGATTTTCGTACTCTACAT	0.294																																					p.Y59Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	19						.	G		0,3638		0,0,1819	117.0	107.0	110.0		177	0.8	0.0	19		110	1,8133		0,1,4066	no	coding-synonymous	ZNF433	NM_001080411.1		0,1,5885	AA,AG,GG		0.0123,0.0,0.0085		59/674	12128714	1,11771	1819	4067	5886	11989714	SO:0001819	synonymous_variant	163059	exon3			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.177C>T	19.37:g.12128714G>A			11989714	NM_001080411	Q86VX3	Silent	SNP	ENST00000344980.6	37	CCDS45983.1																																																																																				0.294	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602	
ZNF20	7568	broad.mit.edu	37	19	12246324	12246324	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12246324C>A	ENST00000334213.5	-	3	415	c.191G>T	c.(190-192)aGa>aTa	p.R64I	ZNF20_ENST00000600335.1_Missense_Mutation_p.R61I|ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R64I(1)		endometrium(1)|kidney(1)|lung(6)	8						CCTTAGATTTCTCCTGGGATT	0.393																																					p.R64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191T	19						.						142.0	129.0	133.0					19																	12246324		1857	4129	5986	12107324	SO:0001583	missense	7568	exon3			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.191G>T	19.37:g.12246324C>A	ENSP00000335437:p.Arg64Ile		12107324	NM_021143	Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	8.428	0.848005	0.17034	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.06371	3.31;6.62	1.14	-1.73	0.08081	Krueppel-associated box (1);	.	.	.	.	T	0.05777	0.0151	L	0.45051	1.395	0.09310	N	1	P	0.49358	0.923	B	0.44044	0.439	T	0.24584	-1.0156	9	0.48119	T	0.1	.	2.397	0.04392	0.0:0.4166:0.329:0.2543	.	64	P17024	ZNF20_HUMAN	I	64;64;61	ENSP00000335437:R64I;ENSP00000390115:R61I	ENSP00000292241:R64I	R	-	2	0	ZNF20	12107324	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.927000	0.03984	-0.463000	0.06973	0.306000	0.20318	AGA		0.393	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143	
ZNF625	90589	broad.mit.edu	37	19	12256140	12256140	+	Missense_Mutation	SNP	G	G	A	rs140651282		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12256140G>A	ENST00000355738.1	-	4	1242	c.893C>T	c.(892-894)tCg>tTg	p.S298L	ZNF625_ENST00000542938.1_Missense_Mutation_p.S298L|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.S364L|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	298					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.S298L(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTGGCCTTTCGAAGTGTTGGA	0.423																																					p.S298L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893T	19						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	99.0	92.0	95.0		1091	-1.3	0.0	19	dbSNP_134	95	0,8600		0,0,4300	no	missense	ZNF625	NM_145233.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	364/373	12256140	1,13005	2203	4300	6503	12117140	SO:0001583	missense	90589	exon4			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.893C>T	19.37:g.12256140G>A	ENSP00000347977:p.Ser298Leu		12117140	NM_145233	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	G	0.001	-3.034954	0.00040	2.27E-4	0.0	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07688	3.17;3.17;3.32	0.646	-1.29	0.09288	.	.	.	.	.	T	0.03011	0.0089	N	0.16368	0.405	0.09310	N	1	D;B	0.57571	0.98;0.319	B;B	0.28991	0.097;0.018	T	0.36890	-0.9729	9	0.62326	D	0.03	.	3.5637	0.07892	0.2953:0.4874:0.2172:0.0	.	298;298	A8K8U0;Q96I27	.;ZN625_HUMAN	L	298;298;364	ENSP00000438436:S298L;ENSP00000347977:S298L;ENSP00000394380:S364L	ENSP00000347977:S298L	S	-	2	0	AC022415.5	12117140	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-1.537000	0.01736	-1.947000	0.00488	TCG		0.423	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF625	90589	broad.mit.edu	37	19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12256527C>T	ENST00000355738.1	-	4	855	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ZNF625_ENST00000542938.1_Missense_Mutation_p.R169Q|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.R235Q|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408																																					p.R169Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G506A	19						.						134.0	122.0	126.0					19																	12256527		2203	4300	6503	12117527	SO:0001583	missense	90589	exon4			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.506G>A	19.37:g.12256527C>T	ENSP00000347977:p.Arg169Gln		12117527	NM_145233	A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	C	7.205	0.594292	0.13875	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B;B	0.34329	0.192;0.449	B;B	0.26614	0.001;0.071	T	0.44112	-0.9349	9	0.20519	T	0.43	.	5.913	0.19039	0.0:0.6765:0.0:0.3235	.	169;169	A8K8U0;Q96I27	.;ZN625_HUMAN	Q	169;169;235	ENSP00000438436:R169Q;ENSP00000347977:R169Q;ENSP00000394380:R235Q	ENSP00000347977:R169Q	R	-	2	0	AC022415.5	12117527	0.000000	0.05858	0.017000	0.16124	0.828000	0.46876	-2.546000	0.00932	-0.603000	0.05767	0.313000	0.20887	CGA		0.408	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF136	7695	broad.mit.edu	37	19	12297659	12297659	+	Nonsense_Mutation	SNP	C	C	T	rs574301770		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12297659C>T	ENST00000343979.4	+	4	606	c.466C>T	c.(466-468)Cga>Tga	p.R156*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R90*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	156					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R156*(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCACTCCTTTCGAACACATGA	0.398																																					p.R156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C466T	19						.						86.0	78.0	81.0					19																	12297659		2203	4300	6503	12158659	SO:0001587	stop_gained	7695	exon4			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.466C>T	19.37:g.12297659C>T	ENSP00000344162:p.Arg156*		12158659	NM_003437		Nonsense_Mutation	SNP	ENST00000343979.4	37	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034674	0.75617	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.41	0.27	0.15635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9384	0.29944	0.2478:0.7522:0.0:0.0	.	.	.	.	X	156;90	.	.	R	+	1	2	ZNF136	12158659	0.000000	0.05858	0.156000	0.22583	0.856000	0.48823	-0.789000	0.04609	0.135000	0.18707	0.655000	0.94253	CGA		0.398	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437	
ZNF44	51710	broad.mit.edu	37	19	12383305	12383305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12383305C>A	ENST00000356109.5	-	5	2027	c.1909G>T	c.(1909-1911)Gaa>Taa	p.E637*	ZNF44_ENST00000355684.5_Nonsense_Mutation_p.E589*	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTTACATTCATAGGGCTTC	0.413																																					p.E589X												.	.	0			c.G1765T	19						.						51.0	54.0	53.0					19																	12383305		2203	4300	6503	12244305	SO:0001587	stop_gained	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.1909G>T	19.37:g.12383305C>A	ENSP00000348419:p.Glu637*		12244305	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Nonsense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737135	0.96865	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	.	.	.	0.997	-0.0899	0.13667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	0.4033	0.00429	0.2432:0.3146:0.2422:0.2	.	.	.	.	X	637;637;589;589	.	ENSP00000347910:E589X	E	-	1	0	ZNF44	12244305	0.000000	0.05858	0.033000	0.17914	0.979000	0.70002	-7.503000	0.00035	0.015000	0.14971	0.305000	0.20034	GAA		0.413	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF44	51710	broad.mit.edu	37	19	12383447	12383447	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12383447G>T	ENST00000356109.5	-	5	1885	c.1767C>A	c.(1765-1767)ttC>ttA	p.F589L	ZNF44_ENST00000355684.5_Missense_Mutation_p.F541L	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AGGGCCAAAAGAATGCTTTCC	0.423																																					p.F541L												.	.	0			c.C1623A	19						.						51.0	55.0	54.0					19																	12383447		2191	4300	6491	12244447	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.1767C>A	19.37:g.12383447G>T	ENSP00000348419:p.Phe589Leu		12244447	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161396	0.38119	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.46063	0.88;0.88;0.88	1.1	-0.276	0.12902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36193	0.0958	M	0.66560	2.04	.	.	.	B;B	0.33549	0.417;0.037	B;B	0.32928	0.155;0.022	T	0.41662	-0.9496	8	0.72032	D	0.01	.	5.0403	0.14456	0.6864:0.0:0.3136:0.0	.	589;541	P15621;F8W7T7	ZNF44_HUMAN;.	L	589;589;541;541	ENSP00000377008:F589L;ENSP00000348419:F589L;ENSP00000347910:F541L	ENSP00000347910:F541L	F	-	3	2	ZNF44	12244447	0.000000	0.05858	0.000000	0.03702	0.909000	0.53808	-1.359000	0.02602	-0.041000	0.13558	0.305000	0.20034	TTC		0.423	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF563	147837	broad.mit.edu	37	19	12429921	12429921	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12429921C>A	ENST00000293725.5	-	4	1123	c.918G>T	c.(916-918)gaG>gaT	p.E306D		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	306					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.E306D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATAGGGTTTCTCTGCACTGT	0.428																																					p.E306D	GBM(39;623 795 5132 29510 31476)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G918T	19						.						154.0	148.0	150.0					19																	12429921		2203	4300	6503	12290921	SO:0001583	missense	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.918G>T	19.37:g.12429921C>A	ENSP00000293725:p.Glu306Asp		12290921	NM_145276	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819549	0.50633	.	.	ENSG00000188868	ENST00000293725	T	0.26810	1.71	1.0	-2.0	0.07433	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39517	0.1081	L	0.56199	1.76	0.27371	N	0.955699	D	0.76494	0.999	D	0.85130	0.997	T	0.28870	-1.0030	9	0.59425	D	0.04	.	7.5889	0.28008	0.4475:0.5525:0.0:0.0	.	306	Q8TA94	ZN563_HUMAN	D	306	ENSP00000293725:E306D	ENSP00000293725:E306D	E	-	3	2	ZNF563	12290921	0.081000	0.21417	0.016000	0.15963	0.471000	0.32888	-0.275000	0.08525	-0.567000	0.06046	-0.666000	0.03841	GAG		0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
ZNF563	147837	broad.mit.edu	37	19	12433451	12433451	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12433451C>A	ENST00000293725.5	-	2	283	c.78G>T	c.(76-78)aaG>aaT	p.K26N	ZNF563_ENST00000595977.1_Missense_Mutation_p.K26N	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K26N(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTATAAATTCTTCTGTGATG	0.428																																					p.K26N	GBM(39;623 795 5132 29510 31476)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G78T	19						.						135.0	122.0	126.0					19																	12433451		2203	4300	6503	12294451	SO:0001583	missense	147837	exon2			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.78G>T	19.37:g.12433451C>A	ENSP00000293725:p.Lys26Asn		12294451	NM_145276	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972745	0.34848	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.02944	4.1	1.27	0.0423	0.14217	Krueppel-associated box (4);	.	.	.	.	T	0.16300	0.0392	M	0.92219	3.285	0.22796	N	0.998726	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03121	-1.1070	9	0.72032	D	0.01	.	6.2568	0.20877	0.2977:0.7023:0.0:0.0	.	26;26	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	N	26	ENSP00000293725:K26N	ENSP00000293725:K26N	K	-	3	2	ZNF563	12294451	0.016000	0.18221	0.665000	0.29768	0.054000	0.15201	-0.040000	0.12104	-0.124000	0.11724	-0.692000	0.03713	AAG		0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
ZNF442	79973	broad.mit.edu	37	19	12461065	12461065	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12461065G>T	ENST00000242804.4	-	6	1916	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.S376Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	445					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.S445Y(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAGGGAACTAGAAATACGGAA	0.368																																					p.S445Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1334A	19						.						76.0	80.0	79.0					19																	12461065		2203	4300	6503	12322065	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1334C>A	19.37:g.12461065G>T	ENSP00000242804:p.Ser445Tyr		12322065	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271650	0.23221	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01209	5.17;5.17	0.832	-0.474	0.12108	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01156	0.0038	L	0.58583	1.82	0.09310	N	1	P	0.42961	0.795	B	0.35278	0.199	T	0.47849	-0.9085	9	0.15499	T	0.54	.	5.5521	0.17095	0.0:0.0:0.6772:0.3228	.	445	Q9H7R0	ZN442_HUMAN	Y	445;376	ENSP00000242804:S445Y;ENSP00000388634:S376Y	ENSP00000242804:S445Y	S	-	2	0	ZNF442	12322065	0.000000	0.05858	0.000000	0.03702	0.320000	0.28249	-3.737000	0.00379	-0.114000	0.11936	0.313000	0.20887	TCT		0.368	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
ZNF442	79973	broad.mit.edu	37	19	12461221	12461221	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12461221C>T	ENST00000242804.4	-	6	1760	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.R324Q	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R393Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATATGACTTCGAAAGCTTGA	0.428																																					p.R393Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	19						.						218.0	203.0	208.0					19																	12461221		2203	4300	6503	12322221	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1178G>A	19.37:g.12461221C>T	ENSP00000242804:p.Arg393Gln		12322221	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449442	0.12223	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.07444	3.19;3.19	0.832	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.12961	0.28	0.09310	N	1	P	0.45044	0.849	B	0.30855	0.121	T	0.42916	-0.9423	9	0.10377	T	0.69	.	5.0856	0.14680	0.0:0.3651:0.0:0.6349	.	393	Q9H7R0	ZN442_HUMAN	Q	393;324	ENSP00000242804:R393Q;ENSP00000388634:R324Q	ENSP00000242804:R393Q	R	-	2	0	ZNF442	12322221	0.006000	0.16342	0.001000	0.08648	0.448000	0.32197	-0.022000	0.12480	-0.626000	0.05596	0.313000	0.20887	CGA		0.428	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
ZNF442	79973	broad.mit.edu	37	19	12461293	12461293	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12461293C>A	ENST00000242804.4	-	6	1688	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.R300I	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R369I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AGTGTGAGTTCTTTCATGACT	0.413																																					p.R369I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106T	19						.						190.0	184.0	186.0					19																	12461293		2203	4298	6501	12322293	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1106G>T	19.37:g.12461293C>A	ENSP00000242804:p.Arg369Ile		12322293	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492240	0.64074	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.24908	1.83;1.83	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40040	0.1101	M	0.71296	2.17	0.43054	D	0.994663	D	0.61080	0.989	P	0.60068	0.868	T	0.35871	-0.9771	9	0.62326	D	0.03	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	369	Q9H7R0	ZN442_HUMAN	I	369;300	ENSP00000242804:R369I;ENSP00000388634:R300I	ENSP00000242804:R369I	R	-	2	0	ZNF442	12322293	0.000000	0.05858	0.661000	0.29709	0.975000	0.68041	-0.282000	0.08445	0.737000	0.32582	0.313000	0.20887	AGA		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
ZNF442	79973	broad.mit.edu	37	19	12461473	12461473	+	Missense_Mutation	SNP	C	C	T	rs371108711		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12461473C>T	ENST00000242804.4	-	6	1508	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.R240Q	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	309					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.R309Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTCATGTATTCGAAGGGAACT	0.408																																					p.R309Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	19						.	C	GLN/ARG	0,4406		0,0,2203	158.0	155.0	156.0		926	-1.7	0.0	19		156	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF442	NM_030824.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	309/628	12461473	3,13003	2203	4300	6503	12322473	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.926G>A	19.37:g.12461473C>T	ENSP00000242804:p.Arg309Gln		12322473	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	3.230	-0.157594	0.06544	0.0	3.49E-4	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.04275	3.66;3.66	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02380	0.0073	L	0.31120	0.905	0.09310	N	1	P	0.35908	0.527	B	0.18871	0.023	T	0.48222	-0.9054	9	0.10636	T	0.68	.	6.273	0.20965	0.0:0.3237:0.0:0.6763	.	309	Q9H7R0	ZN442_HUMAN	Q	309;240	ENSP00000242804:R309Q;ENSP00000388634:R240Q	ENSP00000242804:R309Q	R	-	2	0	ZNF442	12322473	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	0.028000	0.13644	-1.247000	0.02507	-0.671000	0.03813	CGA		0.408	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
ZNF799	90576	broad.mit.edu	37	19	12501625	12501625	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12501625C>A	ENST00000430385.3	-	4	1787	c.1587G>T	c.(1585-1587)gaG>gaT	p.E529D	ZNF799_ENST00000419318.1_Missense_Mutation_p.E497D|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E529D(1)|p.E316D(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CATACGGCTTCTCTCCAGAGT	0.403																																					p.E529D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1587T	19						.						84.0	87.0	86.0					19																	12501625		2197	4296	6493	12362625	SO:0001583	missense	90576	exon4			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1587G>T	19.37:g.12501625C>A	ENSP00000411084:p.Glu529Asp		12362625	NM_001080821		Missense_Mutation	SNP	ENST00000430385.3	37	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015673	0.54468	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.26810	1.71;1.71	1.14	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43366	0.1244	M	0.61703	1.905	0.36589	D	0.873971	D	0.63880	0.993	D	0.77557	0.99	T	0.53358	-0.8450	9	0.66056	D	0.02	.	9.8115	0.40826	0.0:1.0:0.0:0.0	.	529	Q96GE5	ZN799_HUMAN	D	497;529	ENSP00000415278:E497D;ENSP00000411084:E529D	ENSP00000415278:E497D	E	-	3	2	ZNF799	12362625	0.035000	0.19736	0.389000	0.26208	0.156000	0.22039	-0.238000	0.08977	0.922000	0.37019	0.195000	0.17529	GAG		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821	
ZNF443	10224	broad.mit.edu	37	19	12541048	12541048	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12541048C>A	ENST00000301547.5	-	4	2135	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	646					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E646D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CATATGGGTTCTCTCCAGTGT	0.388																																					p.E646D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1938T	19						.						126.0	128.0	127.0					19																	12541048		2203	4300	6503	12402048	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1938G>T	19.37:g.12541048C>A	ENSP00000301547:p.Glu646Asp		12402048	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	8.142	0.785515	0.16189	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.26810	1.71	1.05	1.05	0.20165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	L	0.37800	1.135	0.21627	N	0.999616	B	0.20368	0.044	B	0.15870	0.014	T	0.23297	-1.0192	9	0.52906	T	0.07	.	9.6731	0.40023	0.0:1.0:0.0:0.0	.	646	Q9Y2A4	ZN443_HUMAN	D	646;618	ENSP00000301547:E646D	ENSP00000301547:E646D	E	-	3	2	ZNF443	12402048	0.001000	0.12720	0.074000	0.20217	0.076000	0.17211	0.457000	0.21875	0.889000	0.36185	0.184000	0.17185	GAG		0.388	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF443	10224	broad.mit.edu	37	19	12541399	12541399	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12541399C>A	ENST00000301547.5	-	4	1784	c.1587G>T	c.(1585-1587)gaG>gaT	p.E529D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	529					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E529D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CATAAGGTTTCTCTCCTGTGT	0.403																																					p.E529D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1587T	19						.						107.0	102.0	104.0					19																	12541399		2203	4300	6503	12402399	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1587G>T	19.37:g.12541399C>A	ENSP00000301547:p.Glu529Asp		12402399	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573842	0.28092	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.26810	1.71	1.37	-0.935	0.10423	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18964	0.0455	L	0.37897	1.145	0.26020	N	0.981872	B	0.16603	0.018	B	0.25506	0.061	T	0.31280	-0.9949	9	0.56958	D	0.05	.	6.3439	0.21339	0.0:0.691:0.0:0.309	.	529	Q9Y2A4	ZN443_HUMAN	D	529	ENSP00000301547:E529D	ENSP00000301547:E529D	E	-	3	2	ZNF443	12402399	0.011000	0.17503	0.059000	0.19551	0.126000	0.20510	-0.353000	0.07691	-0.211000	0.10124	-0.384000	0.06662	GAG		0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF443	10224	broad.mit.edu	37	19	12541592	12541592	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12541592C>T	ENST00000301547.5	-	4	1591	c.1394G>A	c.(1393-1395)cGa>cAa	p.R465Q	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	465					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R465Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TTCATGCCTTCGAAGGGAACT	0.393																																					p.R465Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	19						.						98.0	99.0	99.0					19																	12541592		2203	4300	6503	12402592	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1394G>A	19.37:g.12541592C>T	ENSP00000301547:p.Arg465Gln		12402592	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	9.073	0.997485	0.19043	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-0.0118	0.13991	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	L	0.33137	0.985	0.09310	N	1	P	0.36110	0.537	B	0.33890	0.172	T	0.37150	-0.9718	9	0.11794	T	0.64	.	2.3043	0.04170	0.2362:0.2178:0.0:0.546	.	465	Q9Y2A4	ZN443_HUMAN	Q	465	ENSP00000301547:R465Q	ENSP00000301547:R465Q	R	-	2	0	ZNF443	12402592	0.000000	0.05858	0.012000	0.15200	0.530000	0.34684	-6.920000	0.00049	-0.035000	0.13691	0.461000	0.40582	CGA		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF443	10224	broad.mit.edu	37	19	12541806	12541806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12541806C>A	ENST00000301547.5	-	4	1377	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	394					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E394*(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TGCTTGCATTCATAGGGTTTC	0.418																																					p.E394X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1180T	19						.						179.0	166.0	170.0					19																	12541806		2203	4300	6503	12402806	SO:0001587	stop_gained	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1180G>T	19.37:g.12541806C>A	ENSP00000301547:p.Glu394*		12402806	NM_005815		Nonsense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310030	0.60414	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	.	.	.	1.37	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	3.013	0.06051	0.0:0.2849:0.2404:0.4747	.	.	.	.	X	394	.	ENSP00000301547:E394X	E	-	1	0	ZNF443	12402806	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	-5.448000	0.00121	-0.259000	0.09432	0.461000	0.40582	GAA		0.418	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF443	10224	broad.mit.edu	37	19	12541984	12541984	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12541984C>A	ENST00000301547.5	-	4	1199	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	334					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E334D(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CATAGGGTTTCTCTGCACTGT	0.438																																					p.E334D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1002T	19						.						202.0	188.0	193.0					19																	12541984		2203	4299	6502	12402984	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1002G>T	19.37:g.12541984C>A	ENSP00000301547:p.Glu334Asp		12402984	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520704	0.44866	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.26810	1.71	1.44	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22704	0.0548	L	0.56124	1.755	0.27671	N	0.946751	B	0.32051	0.354	B	0.34346	0.18	T	0.29088	-1.0023	9	0.72032	D	0.01	.	7.1342	0.25519	0.0:0.4806:0.0:0.5194	.	334	Q9Y2A4	ZN443_HUMAN	D	334	ENSP00000301547:E334D	ENSP00000301547:E334D	E	-	3	2	ZNF443	12402984	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.129000	0.10515	-0.602000	0.05775	-0.384000	0.06662	GAG		0.438	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF709	163051	broad.mit.edu	37	19	12575907	12575907	+	Nonsense_Mutation	SNP	C	C	A	rs148352272		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12575907C>A	ENST00000397732.3	-	4	1000	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.E277*|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	277					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.E277*(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TAGGGTTTTTCCCCAGTGTGA	0.383																																					p.E277X	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G829T	19						.						33.0	35.0	34.0					19																	12575907		2156	4278	6434	12436907	SO:0001587	stop_gained	163051	exon4			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.829G>T	19.37:g.12575907C>A	ENSP00000380840:p.Glu277*		12436907	NM_152601	A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	37	6.533429	0.97641	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	.	.	.	2.8	0.548	0.17208	.	0.000000	0.35903	N	0.002915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.9719	0.19357	0.1894:0.6973:0.0:0.1133	.	.	.	.	X	277	.	ENSP00000404127:E277X	E	-	1	0	ZNF709;CTD-2192J16.17	12436907	0.766000	0.28496	0.244000	0.24202	0.990000	0.78478	2.043000	0.41231	0.234000	0.21139	0.467000	0.42956	GAA		0.383	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF709	163051	broad.mit.edu	37	19	12577565	12577565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12577565C>A	ENST00000397732.3	-	2	274	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.E35*|CTD-3105H18.18_ENST00000598753.1_Nonsense_Mutation_p.E35*	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E35*(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						ACAAAGGTTTCTTGCATCACA	0.448																																					p.E35X	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G103T	19						.						99.0	100.0	99.0					19																	12577565		2202	4300	6502	12438565	SO:0001587	stop_gained	163051	exon2			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.103G>T	19.37:g.12577565C>A	ENSP00000380840:p.Glu35*		12438565	NM_152601	A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742185	0.89573	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	.	.	.	3.19	3.19	0.36642	.	0.000000	0.36591	N	0.002506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.283	0.54776	0.0:1.0:0.0:0.0	.	.	.	.	X	35;64;35	.	ENSP00000404127:E35X	E	-	1	0	ZNF709;CTD-2192J16.17	12438565	0.145000	0.22656	0.991000	0.47740	0.970000	0.65996	0.467000	0.22035	2.099000	0.63709	0.491000	0.48974	GAA		0.448	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF490	57474	broad.mit.edu	37	19	12691932	12691932	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12691932C>T	ENST00000311437.6	-	5	1079	c.957G>A	c.(955-957)acG>acA	p.T319T	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	319					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.T319T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCCGTAAGTACGTGGGACAAC	0.433																																					p.T319T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G957A	19						.						85.0	80.0	81.0					19																	12691932		2203	4300	6503	12552932	SO:0001819	synonymous_variant	57474	exon5			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.957G>A	19.37:g.12691932C>T			12552932	NM_020714		Silent	SNP	ENST00000311437.6	37	CCDS12272.1																																																																																				0.433	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714	
ZNF490	57474	broad.mit.edu	37	19	12694260	12694260	+	Missense_Mutation	SNP	C	C	A	rs373138394		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12694260C>A	ENST00000311437.6	-	3	395	c.273G>T	c.(271-273)aaG>aaT	p.K91N	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	91	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K91N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGGCCAGGTTCTTGAAGGTTG	0.473																																					p.K91N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G273T	19						.	C	ASN/LYS	0,4406		0,0,2203	114.0	111.0	112.0		273	-1.8	0.0	19		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF490	NM_020714.2	94	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	91/530	12694260	1,13005	2203	4300	6503	12555260	SO:0001583	missense	57474	exon3			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.273G>T	19.37:g.12694260C>A	ENSP00000311521:p.Lys91Asn		12555260	NM_020714		Missense_Mutation	SNP	ENST00000311437.6	37	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	7.120	0.577745	0.13686	0.0	1.16E-4	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.01854	4.6;4.6	1.32	-1.77	0.07982	Krueppel-associated box (4);	.	.	.	.	T	0.02047	0.0064	L	0.35593	1.075	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.42849	-0.9427	9	0.62326	D	0.03	.	6.4803	0.22060	0.5045:0.4955:0.0:0.0	.	91	Q9ULM2	ZN490_HUMAN	N	91;38	ENSP00000311521:K91N;ENSP00000404112:K38N	ENSP00000311521:K91N	K	-	3	2	ZNF490	12555260	0.002000	0.14202	0.015000	0.15790	0.064000	0.16182	0.264000	0.18497	-0.358000	0.08162	-0.500000	0.04577	AAG		0.473	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714	
MAN2B1	4125	broad.mit.edu	37	19	12758346	12758346	+	Missense_Mutation	SNP	C	C	T	rs139366493		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12758346C>T	ENST00000456935.2	-	22	2771	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	MAN2B1_ENST00000221363.4_Missense_Mutation_p.E910K|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R97Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	911					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.E911K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCATTTCGGGGCCCCAG	0.657																																					p.E911K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2731A	19						.	C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	61.0	64.0	63.0		2731,2728	-4.8	0.0	19	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAN2B1	NM_000528.3,NM_001173498.1	56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	911/1012,910/1011	12758346	2,13004	2203	4300	6503	12619346	SO:0001583	missense	4125	exon22				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2731G>A	19.37:g.12758346C>T	ENSP00000395473:p.Glu911Lys		12619346	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444472	0.12164	2.27E-4	1.16E-4	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.82893	-1.66;-1.66	5.84	-4.8	0.03190	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	2.942610	0.00757	N	0.001115	T	0.62962	0.2471	N	0.05177	-0.1	0.09310	N	1	B;B	0.17268	0.003;0.021	B;B	0.08055	0.002;0.003	T	0.56511	-0.7967	10	0.13470	T	0.59	-1.9592	8.4529	0.32882	0.0:0.4019:0.1042:0.494	.	910;911	G5E928;O00754	.;MA2B1_HUMAN	K	911;850;910	ENSP00000395473:E911K;ENSP00000221363:E910K	ENSP00000221363:E910K	E	-	1	0	MAN2B1	12619346	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.101000	0.15251	-0.561000	0.06094	0.561000	0.74099	GAA		0.657	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
RNASEH2A	10535	broad.mit.edu	37	19	12918087	12918087	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12918087C>T	ENST00000221486.4	+	3	361	c.267C>T	c.(265-267)gtC>gtT	p.V89V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	89					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.V89V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						CGGACTTTGTCGGCTGGGCGC	0.597																																					p.V89V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	19						.						176.0	163.0	168.0					19																	12918087		2203	4300	6503	12779087	SO:0001819	synonymous_variant	10535	exon3			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.267C>T	19.37:g.12918087C>T			12779087	NM_006397	B2RCY1|Q96F11	Silent	SNP	ENST00000221486.4	37	CCDS12282.1																																																																																				0.597	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397	
MAST1	22983	broad.mit.edu	37	19	12958769	12958769	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:12958769C>A	ENST00000251472.4	+	7	711	c.672C>A	c.(670-672)atC>atA	p.I224I	MAST1_ENST00000591495.1_Silent_p.I220I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.I224I(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACCACCAGATCATCGAGCTGG	0.597																																					p.I224I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672A	19						.						60.0	47.0	51.0					19																	12958769		2203	4300	6503	12819769	SO:0001819	synonymous_variant	22983	exon7			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.672C>A	19.37:g.12958769C>A			12819769	NM_014975		Silent	SNP	ENST00000251472.4	37	CCDS32921.1																																																																																				0.597	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
GCDH	2639	broad.mit.edu	37	19	13002653	13002653	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13002653C>T	ENST00000222214.5	+	4	347	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	GCDH_ENST00000457854.1_Missense_Mutation_p.P46S|GCDH_ENST00000422947.2_5'UTR|GCDH_ENST00000591470.1_Missense_Mutation_p.P46S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	46					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.P46S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AGCCTCGCGTCCCGAGTTTGA	0.617																																					p.P46S	GBM(123;875 1636 7726 16444 26754)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C136T	19						.						50.0	46.0	47.0					19																	13002653		2203	4300	6503	12863653	SO:0001583	missense	2639	exon4			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.136C>T	19.37:g.13002653C>T	ENSP00000222214:p.Pro46Ser		12863653	NM_013976	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728682	0.48833	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816	D;D	0.97328	-4.28;-4.34	5.32	4.22	0.49857	Acyl-CoA dehydrogenase/oxidase (1);	0.195768	0.44902	D	0.000419	D	0.91734	0.7386	N	0.19112	0.55	0.80722	D	1	B;B;B	0.20780	0.007;0.048;0.035	B;B;B	0.17098	0.008;0.005;0.017	D	0.87687	0.2551	10	0.10902	T	0.67	.	12.4453	0.55647	0.1684:0.8316:0.0:0.0	.	34;46;46	B4DQF2;Q92947;Q92947-2	.;GCDH_HUMAN;.	S	46;46;34	ENSP00000394872:P46S;ENSP00000222214:P46S	ENSP00000222214:P46S	P	+	1	0	GCDH	12863653	0.031000	0.19500	0.529000	0.27951	0.019000	0.09904	0.626000	0.24492	2.500000	0.84329	0.462000	0.41574	CCC		0.617	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
GCDH	2639	broad.mit.edu	37	19	13004318	13004318	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13004318C>T	ENST00000222214.5	+	6	567	c.356C>T	c.(355-357)tCg>tTg	p.S119L	GCDH_ENST00000457854.1_Missense_Mutation_p.S119L|GCDH_ENST00000422947.2_Missense_Mutation_p.S75L|GCDH_ENST00000591470.1_Missense_Mutation_p.S119L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	119					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.S119L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GCTGGGGTTTCGTCTGTGGCC	0.597																																					p.S119L	GBM(123;875 1636 7726 16444 26754)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	19	GRCh37	CM002258	GCDH	M		.						116.0	87.0	97.0					19																	13004318		2203	4300	6503	12865318	SO:0001583	missense	2639	exon6			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.356C>T	19.37:g.13004318C>T	ENSP00000222214:p.Ser119Leu		12865318	NM_013976	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444388	0.83993	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99113	-5.44;-5.44;-5.44	5.19	5.19	0.71726	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.120884	0.56097	D	0.000031	D	0.99612	0.9859	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.70487	0.967;0.957;0.969;0.93	D	0.97572	1.0105	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	75;86;119;119	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	119;119;86;75	ENSP00000394872:S119L;ENSP00000222214:S119L;ENSP00000394821:S75L	ENSP00000222214:S119L	S	+	2	0	GCDH	12865318	1.000000	0.71417	0.909000	0.35828	0.841000	0.47740	5.533000	0.67160	2.584000	0.87258	0.563000	0.77884	TCG		0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1		
CACNA1A	773	broad.mit.edu	37	19	13339558	13339558	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13339558G>T	ENST00000573710.2	-	37	5861	c.5583C>A	c.(5581-5583)ccC>ccA	p.P1861P	CACNA1A_ENST00000360228.5_Intron|CACNA1A_ENST00000574822.1_5'Flank	NM_001127221.1	NP_001120693.1	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1861					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.P1861P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCCGAGAGGGGGAGATATTA	0.473																																					p.P1861P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5583A	19						.						66.0	61.0	63.0					19																	13339558		1568	3582	5150	13200558	SO:0001819	synonymous_variant	773	exon37			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000573710.2:c.5583C>A	19.37:g.13339558G>T			13200558	NM_001127221	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Intron	SNP	ENST00000573710.2	37	CCDS45999.1																																																																																				0.473	CACNA1A-002	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439639.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13341002	13341002	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13341002C>T	ENST00000360228.5	-	36	5421	c.5422G>A	c.(5422-5424)Gtc>Atc	p.V1808I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1809I|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1809					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.V1809I(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCATGATGACGGCGACAAAG	0.577																																					p.R1809H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5426A	19						.						89.0	97.0	94.0					19																	13341002		2093	4253	6346	13202002	SO:0001583	missense	773	exon36			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5422G>A	19.37:g.13341002C>T	ENSP00000353362:p.Val1808Ile		13202002	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918246	0.73098	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98926	-5.24	4.33	4.33	0.51752	Ion transport (1);	0.000000	0.64402	D	0.000006	D	0.98877	0.9620	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.994;0.999;0.989;0.999	D	0.99521	1.0958	10	0.52906	T	0.07	.	15.5941	0.76566	0.0:1.0:0.0:0.0	.	1809;1814;1808;1809	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	I	1808;1814;1809;1809	ENSP00000353362:V1808I	ENSP00000317661:V1809I	V	-	1	0	CACNA1A	13202002	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.736000	0.84948	1.968000	0.57251	0.549000	0.68633	GTC		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13342526	13342526	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13342526G>T	ENST00000360228.5	-	35	5397	c.5398C>A	c.(5398-5400)Ctg>Atg	p.L1800M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1801M|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1801					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.L1801M(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGACTCACCAGAAACGAGCAG	0.507																																					p.S1801Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5402A	19						.						60.0	62.0	61.0					19																	13342526		2001	4179	6180	13203526	SO:0001583	missense	773	exon35			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5398C>A	19.37:g.13342526G>T	ENSP00000353362:p.Leu1800Met		13203526	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651096	0.47362	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98926	-5.24	4.61	3.57	0.40892	Ion transport (1);	0.000000	0.64402	D	0.000020	D	0.98817	0.9601	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.987;0.986;0.999;0.992	D	0.99395	1.0926	10	0.87932	D	0	.	11.685	0.51481	0.0885:0.0:0.9115:0.0	.	1801;1806;1800;1801	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	M	1800;1806;1801;1801	ENSP00000353362:L1800M	ENSP00000317661:L1801M	L	-	1	2	CACNA1A	13203526	1.000000	0.71417	0.953000	0.39169	0.982000	0.71751	4.706000	0.61845	0.929000	0.37192	0.555000	0.69702	CTG		0.507	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13345847	13345847	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13345847A>C	ENST00000360228.5	-	34	5136	c.5137T>G	c.(5137-5139)Ttt>Gtt	p.F1713V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.F1714V|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1714					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.F1714V(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTTACCAAACACCTGTGGA	0.537											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V1714G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5141G	19						.						125.0	126.0	126.0					19																	13345847		2055	4198	6253	13206847	SO:0001583	missense	773	exon34			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5137T>G	19.37:g.13345847A>C	ENSP00000353362:p.Phe1713Val	686	13206847	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254631	0.59212	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.99129	-5.46	5.01	5.01	0.66863	Ion transport (1);	0.132589	0.52532	D	0.000071	D	0.99670	0.9877	H	0.99863	4.86	0.80722	D	1	D;D;D;D	0.89917	0.996;0.995;1.0;0.996	D;D;D;D	0.87578	0.976;0.94;0.998;0.964	D	0.97061	0.9771	10	0.87932	D	0	.	13.7544	0.62928	1.0:0.0:0.0:0.0	.	1714;1719;1713;1714	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	V	1713;1719;1714;1714	ENSP00000353362:F1713V	ENSP00000317661:F1714V	F	-	1	0	CACNA1A	13206847	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	9.042000	0.93793	1.894000	0.54839	0.451000	0.29950	TTT		0.537	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13365938	13365938	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13365938C>T	ENST00000360228.5	-	29	4725	c.4726G>A	c.(4726-4728)Gcc>Acc	p.A1576T	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1577T|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1577					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.A1577T(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTTGAGGGCGATCATGGCC	0.557																																					p.A1577T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4729A	19						.						91.0	101.0	97.0					19																	13365938		2122	4238	6360	13226938	SO:0001583	missense	773	exon29			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4726G>A	19.37:g.13365938C>T	ENSP00000353362:p.Ala1576Thr		13226938	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338593	0.60963	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.97505	-4.41	4.8	4.8	0.61643	.	0.140325	0.46758	D	0.000276	D	0.98036	0.9353	M	0.65677	2.01	0.80722	D	1	P;P;D;P	0.89917	0.598;0.845;1.0;0.598	B;B;D;B	0.83275	0.103;0.196;0.996;0.071	D	0.98766	1.0726	10	0.56958	D	0.05	.	16.7134	0.85391	0.0:1.0:0.0:0.0	.	1577;1580;1576;1577	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	T	1576;1580;1577;1577;193	ENSP00000353362:A1576T	ENSP00000317661:A1577T	A	-	1	0	CACNA1A	13226938	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.728000	0.84847	2.227000	0.72691	0.650000	0.86243	GCC		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13386702	13386702	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13386702G>T	ENST00000360228.5	-	24	3950	c.3951C>A	c.(3949-3951)ttC>ttA	p.F1317L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.F1318L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1318					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.F1318L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACCACTATGAAGTCGAGAA	0.582																																					p.F1318L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3954A	19						.						75.0	79.0	78.0					19																	13386702		1968	4139	6107	13247702	SO:0001583	missense	773	exon24			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3951C>A	19.37:g.13386702G>T	ENSP00000353362:p.Phe1317Leu		13247702	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064227	0.36373	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98849	-5.18	4.57	3.45	0.39498	Ion transport (1);	0.159223	0.45126	D	0.000387	D	0.98469	0.9490	L	0.58354	1.805	0.45733	D	0.998632	D;B;D	0.69078	0.973;0.208;0.997	D;B;D	0.77004	0.93;0.248;0.989	D	0.98141	1.0436	10	0.72032	D	0.01	.	9.7146	0.40268	0.1504:0.0:0.8496:0.0	.	1318;1321;1317	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	L	1317;1321;1318;1318	ENSP00000353362:F1317L	ENSP00000317661:F1318L	F	-	3	2	CACNA1A	13247702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.424000	0.52764	2.089000	0.63090	0.591000	0.81541	TTC		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13419321	13419321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13419321C>T	ENST00000360228.5	-	13	1689	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E565K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	565					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E565K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGATGACCTCGAAGATGCTC	0.488																																					p.E565K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1693A	19						.						62.0	58.0	59.0					19																	13419321		2022	4178	6200	13280321	SO:0001583	missense	773	exon13			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1690G>A	19.37:g.13419321C>T	ENSP00000353362:p.Glu564Lys		13280321	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227854	0.79576	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98602	-5.02	5.33	5.33	0.75918	Ion transport (1);	0.064364	0.64402	D	0.000013	D	0.99387	0.9784	H	0.97291	3.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.988	D	0.98483	1.0606	10	0.72032	D	0.01	.	17.7841	0.88532	0.0:1.0:0.0:0.0	.	565;565;564	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	564;565;565;565	ENSP00000353362:E564K	ENSP00000317661:E565K	E	-	1	0	CACNA1A	13280321	1.000000	0.71417	0.983000	0.44433	0.826000	0.46750	7.747000	0.85070	2.495000	0.84180	0.563000	0.77884	GAG		0.488	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATAAACATTTCGGACATAAAG	0.458																																					p.E533K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1597A	19	GRCh37	CM065992	CACNA1A	M		.						75.0	72.0	73.0					19																	13423557		1850	4099	5949	13284557	SO:0001583	missense	773	exon12			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1594G>A	19.37:g.13423557C>T	ENSP00000353362:p.Glu532Lys		13284557	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349644	0.82132	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98822	-5.16	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99273	4.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.988	D	0.97583	1.0112	10	0.87932	D	0	.	17.6776	0.88235	0.0:1.0:0.0:0.0	.	533;533;532	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	532;533;533;533	ENSP00000353362:E532K	ENSP00000317661:E533K	E	-	1	0	CACNA1A	13284557	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.529000	0.85273	0.650000	0.86243	GAA		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13470495	13470495	+	Silent	SNP	G	G	A	rs17846910		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13470495G>A	ENST00000360228.5	-	6	902	c.903C>T	c.(901-903)ttC>ttT	p.F301F	CACNA1A_ENST00000573710.2_Silent_p.F301F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	301					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.F301F(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGATGTTGTCGAACTGAGTGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.0		0.001	False		,,,				2504	0.0				p.F301F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C903T	19						.	G	,,,,	1,4143		0,1,2071	103.0	97.0	99.0		903,903,903,903,903	-0.4	1.0	19	dbSNP_123	99	0,8444		0,0,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6293	AA,AG,GG		0.0,0.0241,0.0079	,,,,	301/2267,301/2262,301/2507,301/2264,301/2513	13470495	1,12587	2072	4222	6294	13331495	SO:0001819	synonymous_variant	773	exon6			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.903C>T	19.37:g.13470495G>A			13331495	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13476147	13476147	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13476147G>A	ENST00000360228.5	-	5	767	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CACNA1A_ENST00000573710.2_Silent_p.C256C	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	256			C -> R (in EA2; dbSNP:rs121908231). {ECO:0000269|PubMed:15173248}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.C256C(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTTCAAAGCAGGTGGTAT	0.453																																					p.C256C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C768T	19						.						99.0	100.0	100.0					19																	13476147		1882	4105	5987	13337147	SO:0001819	synonymous_variant	773	exon5			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.768C>T	19.37:g.13476147G>A			13337147	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.453	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13476262	13476262	+	Missense_Mutation	SNP	G	G	A	rs121908225		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:13476262G>A	ENST00000360228.5	-	5	652	c.653C>T	c.(652-654)tCg>tTg	p.S218L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S218L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	218			S -> L (in FHM1; dbSNP:rs121908225). {ECO:0000269|PubMed:11409427}.		adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.S218L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTCATGATCGACTTCAGGAC	0.493																																					p.S218L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C653T	19	GRCh37	CM016081	CACNA1A	M	rs121908225	.						54.0	53.0	54.0					19																	13476262		1917	4131	6048	13337262	SO:0001583	missense	773	exon5			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.653C>T	19.37:g.13476262G>A	ENSP00000353362:p.Ser218Leu		13337262	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157215	0.57259	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98701	-5.08	5.55	5.55	0.83447	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.64997	1.995	0.58432	A	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	D	0.99906	1.1180	9	0.87932	D	0	.	18.2896	0.90124	0.0:0.0:1.0:0.0	.	218;218	O00555;Q9NS88	CAC1A_HUMAN;.	L	218	ENSP00000353362:S218L	ENSP00000317661:S218L	S	-	2	0	CACNA1A	13337262	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	9.564000	0.98151	2.603000	0.88011	0.655000	0.94253	TCG		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CC2D1A	54862	broad.mit.edu	37	19	14037824	14037824	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14037824G>A	ENST00000318003.7	+	21	2400	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R720H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	720	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.R720H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCATCAACCGCAGCCACCGT	0.582																																					p.R720H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2159A	19						.						61.0	64.0	63.0					19																	14037824		2052	4200	6252	13898824	SO:0001583	missense	54862	exon21			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2159G>A	19.37:g.14037824G>A	ENSP00000313601:p.Arg720His		13898824	NM_017721	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	g	27.7	4.858598	0.91433	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.30714	1.52	5.25	4.21	0.49690	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.86420	2.815	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.68700	-0.5339	10	0.87932	D	0	-12.9858	14.1653	0.65473	0.0:0.0:0.8486:0.1514	.	342;720;720	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	H	720;343	ENSP00000313601:R720H	ENSP00000254346:R343H	R	+	2	0	CC2D1A	13898824	1.000000	0.71417	0.911000	0.35937	0.997000	0.91878	8.640000	0.91028	1.193000	0.43086	0.491000	0.48974	CGC		0.582	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721	
CD97	976	broad.mit.edu	37	19	14508711	14508711	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14508711C>A	ENST00000242786.5	+	8	863	c.783C>A	c.(781-783)ttC>ttA	p.F261L	CD97_ENST00000357355.3_Missense_Mutation_p.F212L|CD97_ENST00000358600.3_Missense_Mutation_p.F168L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	261					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.F261L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATATGACTTTCTCCACCTGGA	0.617																																					p.F212L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C636A	19						.						8.0	13.0	12.0					19																	14508711		1767	3755	5522	14369711	SO:0001583	missense	976	exon7				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.783C>A	19.37:g.14508711C>A	ENSP00000242786:p.Phe261Leu		14369711	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617573	0.28801	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70399	-0.48;-0.4;-0.07	4.18	0.546	0.17196	.	0.238170	0.21916	N	0.067225	T	0.69424	0.3109	M	0.81802	2.56	0.09310	N	1	B;B;B	0.31174	0.257;0.311;0.013	B;B;B	0.37480	0.162;0.251;0.024	T	0.63523	-0.6618	10	0.56958	D	0.05	.	6.109	0.20090	0.0:0.5256:0.3686:0.1058	.	168;212;261	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	L	261;212;168;211	ENSP00000242786:F261L;ENSP00000349918:F212L;ENSP00000351413:F168L	ENSP00000242786:F261L	F	+	3	2	CD97	14369711	0.007000	0.16637	0.003000	0.11579	0.001000	0.01503	0.306000	0.19279	0.115000	0.18071	-0.291000	0.09656	TTC		0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
CD97	976	broad.mit.edu	37	19	14517769	14517769	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14517769C>T	ENST00000242786.5	+	17	2284	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.A686V|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Missense_Mutation_p.A642V	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	735					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.A735V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTAAAGAAGGCGAGGTGAGAG	0.572											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A686V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2057T	19						.						92.0	102.0	99.0					19																	14517769		2203	4300	6503	14378769	SO:0001583	missense	976	exon16				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2204C>T	19.37:g.14517769C>T	ENSP00000242786:p.Ala735Val	695	14378769	NM_001025160	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023339	0.35701	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.47869	0.83;0.83;0.83	4.87	4.87	0.63330	GPCR, family 2-like (1);	0.507106	0.14818	N	0.296669	T	0.37237	0.0996	L	0.39147	1.195	0.30475	N	0.772954	D;P;B	0.53619	0.961;0.93;0.069	B;B;B	0.41946	0.371;0.371;0.018	T	0.29822	-0.9999	10	0.27785	T	0.31	.	9.1921	0.37207	0.0:0.8994:0.0:0.1006	.	642;686;735	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	V	735;686;642;685	ENSP00000242786:A735V;ENSP00000349918:A686V;ENSP00000351413:A642V	ENSP00000242786:A735V	A	+	2	0	CD97	14378769	0.962000	0.33011	0.542000	0.28115	0.036000	0.12997	1.957000	0.40392	2.245000	0.73994	0.655000	0.94253	GCG		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481	
PKN1	5585	broad.mit.edu	37	19	14580255	14580255	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14580255C>T	ENST00000242783.6	+	16	2244	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F	PKN1_ENST00000342216.4_Silent_p.F699F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	693	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.F693L(1)|p.F693F(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACGTGTGCTTCGTGATGGAGT	0.627																																					p.F699F	NSCLC(185;2539 2965 10733 52867)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C2097T	19						.						104.0	117.0	113.0					19																	14580255		2128	4237	6365	14441255	SO:0001819	synonymous_variant	5585	exon16			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2079C>T	19.37:g.14580255C>T			14441255	NM_213560	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	CCDS42513.1																																																																																				0.627	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560	
CLEC17A	388512	broad.mit.edu	37	19	14706090	14706090	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14706090G>T	ENST00000417570.1	+	8	446	c.408G>T	c.(406-408)gtG>gtT	p.V136V	CLEC17A_ENST00000397439.2_Silent_p.V119V|CLEC17A_ENST00000547437.1_Silent_p.V136V	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	136						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.V136V(1)									TCCCAGCTGTGAATCTTGAGC	0.483																																					p.V119V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357T	19						.						256.0	243.0	247.0					19																	14706090		1955	4139	6094	14567090	SO:0001819	synonymous_variant	388512	exon7			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.408G>T	19.37:g.14706090G>T			14567090	NM_207390	A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	CCDS56087.1																																																																																				0.483	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	
EMR3	84658	broad.mit.edu	37	19	14765944	14765944	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14765944G>T	ENST00000253673.5	-	6	527	c.427C>A	c.(427-429)Ctc>Atc	p.L143I	EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.L91I|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	143					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L143I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGATTGGTGAGAAGTGACTCA	0.373																																					p.L143I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C427A	19						.						117.0	113.0	114.0					19																	14765944		2203	4300	6503	14626944	SO:0001583	missense	84658	exon6			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.427C>A	19.37:g.14765944G>T	ENSP00000253673:p.Leu143Ile		14626944	NM_032571		Missense_Mutation	SNP	ENST00000253673.5	37	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548505	0.13312	.	.	ENSG00000131355	ENST00000253673;ENST00000344373	T;T	0.29917	1.55;1.55	3.65	0.226	0.15353	.	.	.	.	.	T	0.23532	0.0569	L	0.43152	1.355	0.09310	N	1	B;B	0.31503	0.326;0.079	B;B	0.36719	0.231;0.08	T	0.33420	-0.9869	9	0.52906	T	0.07	.	1.5517	0.02576	0.1309:0.2594:0.4109:0.1988	.	91;143	Q9BY15-2;Q9BY15	.;EMR3_HUMAN	I	143;91	ENSP00000253673:L143I;ENSP00000340758:L91I	ENSP00000253673:L143I	L	-	1	0	EMR3	14626944	0.001000	0.12720	0.023000	0.16930	0.010000	0.07245	0.124000	0.15728	0.298000	0.22638	-0.169000	0.13324	CTC		0.373	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
ZNF333	84449	broad.mit.edu	37	19	14817559	14817559	+	Missense_Mutation	SNP	G	G	A	rs571042009		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14817559G>A	ENST00000292530.6	+	7	576	c.485G>A	c.(484-486)cGc>cAc	p.R162H	ZNF333_ENST00000540689.2_Missense_Mutation_p.R162H|ZNF333_ENST00000536363.1_Missense_Mutation_p.R53H|ZNF333_ENST00000601134.1_Silent_p.P102P	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	162					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.R162H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTGGGCCACCGCAACCCATGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18225	0.0		0.001	False		,,,				2504	0.0				p.R162H	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G485A	19						.						85.0	79.0	81.0					19																	14817559		2203	4300	6503	14678559	SO:0001583	missense	84449	exon7				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.485G>A	19.37:g.14817559G>A	ENSP00000292530:p.Arg162His		14678559	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126210	0.20959	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.06933	3.24;5.82;3.31	2.29	-4.58	0.03410	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P	0.43287	0.802	B	0.32090	0.14	T	0.39961	-0.9588	9	0.41790	T	0.15	.	5.4512	0.16566	0.0:0.2483:0.506:0.2457	.	162	Q96JL9	ZN333_HUMAN	H	53;162;162	ENSP00000439749:R53H;ENSP00000438130:R162H;ENSP00000292530:R162H	ENSP00000292530:R162H	R	+	2	0	ZNF333	14678559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.496000	0.06436	-1.048000	0.03238	-1.437000	0.01076	CGC		0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
ZNF333	84449	broad.mit.edu	37	19	14826244	14826244	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14826244G>T	ENST00000292530.6	+	8	653	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E188*|ZNF333_ENST00000536363.1_Nonsense_Mutation_p.E79*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E188*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AGTGGAGGAAGAAGCTATGGC	0.557																																					p.E188X	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G562T	19						.						92.0	68.0	76.0					19																	14826244		2203	4300	6503	14687244	SO:0001587	stop_gained	84449	exon8				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.562G>T	19.37:g.14826244G>T	ENSP00000292530:p.Glu188*		14687244	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991309	0.98599	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	.	.	.	3.27	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	10.2279	0.43236	0.0:0.0:1.0:0.0	.	.	.	.	X	79;188;188	.	ENSP00000292530:E188X	E	+	1	0	ZNF333	14687244	0.008000	0.16893	0.004000	0.12327	0.175000	0.22909	1.032000	0.30178	1.844000	0.53588	0.655000	0.94253	GAA		0.557	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
ZNF333	84449	broad.mit.edu	37	19	14829226	14829226	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14829226G>A	ENST00000292530.6	+	12	1178	c.1087G>A	c.(1087-1089)Gat>Aat	p.D363N	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.D254N	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D363N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CCGTAGTGGGGATAAATCCTA	0.433																																					p.D363N	NSCLC(60;75 1281 16985 25154 29885)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1087A	19						.						85.0	85.0	85.0					19																	14829226		2203	4300	6503	14690226	SO:0001583	missense	84449	exon12				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1087G>A	19.37:g.14829226G>A	ENSP00000292530:p.Asp363Asn		14690226	NM_032433	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302572	0.81136	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.06294	4.72;3.32	3.24	2.18	0.27775	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	L	0.51853	1.615	0.32076	N	0.593751	B	0.24963	0.115	B	0.19666	0.026	T	0.04427	-1.0952	9	0.72032	D	0.01	.	8.3272	0.32165	0.1227:0.0:0.8773:0.0	.	363	Q96JL9	ZN333_HUMAN	N	254;363	ENSP00000439749:D254N;ENSP00000292530:D363N	ENSP00000292530:D363N	D	+	1	0	ZNF333	14690226	1.000000	0.71417	0.169000	0.22859	0.387000	0.30353	6.654000	0.74387	0.705000	0.31890	0.585000	0.79938	GAT		0.433	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
EMR2	30817	broad.mit.edu	37	19	14863176	14863176	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14863176G>T	ENST00000315576.3	-	15	2204	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	EMR2_ENST00000392965.3_Missense_Mutation_p.L527I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000596991.2_Missense_Mutation_p.L574I|EMR2_ENST00000353876.1_Missense_Mutation_p.L492I|EMR2_ENST00000594294.1_Missense_Mutation_p.L536I|EMR2_ENST00000601345.1_Missense_Mutation_p.L574I|EMR2_ENST00000392967.2_Missense_Mutation_p.L574I|EMR2_ENST00000594076.1_Missense_Mutation_p.L492I|EMR2_ENST00000346057.1_Missense_Mutation_p.L536I|EMR2_ENST00000595839.1_Missense_Mutation_p.L443I|EMR2_ENST00000353005.1_Missense_Mutation_p.L443I	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	585					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.L585I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ACGAGGAAGAGGAGGTGGGCC	0.572																																					p.L525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573A	19						.						112.0	96.0	102.0					19																	14863176		2203	4300	6503	14724176	SO:0001583	missense	30817	exon14			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1753C>A	19.37:g.14863176G>T	ENSP00000319883:p.Leu585Ile		14724176	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528981	0.13127	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	4.22	1.93	0.25924	GPCR, family 2-like (1);	.	.	.	.	T	0.46560	0.1399	L	0.49699	1.58	0.80722	D	1	D;P;D;P;D;D;D;P	0.89917	0.999;0.931;1.0;0.712;0.994;0.995;0.995;0.919	D;P;D;P;D;D;D;P	0.97110	0.986;0.832;1.0;0.451;0.966;0.98;0.98;0.668	T	0.32402	-0.9908	9	0.13470	T	0.59	.	10.1212	0.42621	0.0:0.0:0.4734:0.5266	.	527;492;585;443;536;585;585;574	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	I	585;574;536;492;443;527	ENSP00000319883:L585I;ENSP00000376694:L574I;ENSP00000263380:L536I;ENSP00000319454:L492I;ENSP00000319838:L443I;ENSP00000376692:L527I	ENSP00000319883:L585I	L	-	1	0	EMR2	14724176	0.000000	0.05858	0.675000	0.29917	0.570000	0.35934	-0.293000	0.08320	0.305000	0.22832	0.508000	0.49915	CTC		0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
EMR2	30817	broad.mit.edu	37	19	14876372	14876372	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14876372G>T	ENST00000315576.3	-	9	1243	c.792C>A	c.(790-792)ttC>ttA	p.F264L	EMR2_ENST00000392965.3_Missense_Mutation_p.F264L|EMR2_ENST00000392964.3_Missense_Mutation_p.F3L|EMR2_ENST00000596991.2_Missense_Mutation_p.F264L|EMR2_ENST00000353876.1_Missense_Mutation_p.F171L|EMR2_ENST00000594294.1_Missense_Mutation_p.F215L|EMR2_ENST00000601345.1_Missense_Mutation_p.F264L|EMR2_ENST00000392967.2_Missense_Mutation_p.F264L|EMR2_ENST00000594076.1_Missense_Mutation_p.F171L|EMR2_ENST00000346057.1_Missense_Mutation_p.F215L|EMR2_ENST00000595839.1_Missense_Mutation_p.F122L|EMR2_ENST00000353005.1_Missense_Mutation_p.F122L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	264					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.F264L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCCAGGTGGAGAAAGTCATAT	0.622																																					p.F215L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C645A	19						.																																			14737372	SO:0001583	missense	30817	exon8			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.792C>A	19.37:g.14876372G>T	ENSP00000319883:p.Phe264Leu		14737372	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.969884	0.53614	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.79033	-0.86;-1.01;-0.4;0.36;1.12;-1.23;0.93;-1.16	3.82	-1.16	0.09678	.	.	.	.	.	T	0.69717	0.3142	M	0.81802	2.56	0.09310	N	0.999997	B;B;P;B;B;B;B;B	0.37141	0.126;0.02;0.584;0.002;0.284;0.003;0.011;0.096	B;B;B;B;B;B;B;B	0.35114	0.015;0.009;0.196;0.004;0.076;0.005;0.017;0.099	T	0.55854	-0.8075	9	0.12103	T	0.63	.	4.112	0.10063	0.2304:0.3886:0.3809:0.0	.	264;171;264;122;215;264;264;264	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	L	264;264;215;171;122;264;3;215	ENSP00000319883:F264L;ENSP00000376694:F264L;ENSP00000263380:F215L;ENSP00000319454:F171L;ENSP00000319838:F122L;ENSP00000376692:F264L;ENSP00000376691:F3L;ENSP00000376689:F215L	ENSP00000319883:F264L	F	-	3	2	EMR2	14737372	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.002000	0.13061	0.033000	0.15463	0.382000	0.24955	TTC		0.622	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
EMR2	30817	broad.mit.edu	37	19	14883285	14883285	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:14883285G>A	ENST00000315576.3	-	5	675	c.224C>T	c.(223-225)tCg>tTg	p.S75L	EMR2_ENST00000392965.3_Missense_Mutation_p.S75L|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000596991.2_Missense_Mutation_p.S75L|EMR2_ENST00000353876.1_Missense_Mutation_p.S75L|EMR2_ENST00000594294.1_Missense_Mutation_p.S75L|EMR2_ENST00000601345.1_Missense_Mutation_p.S75L|EMR2_ENST00000392967.2_Missense_Mutation_p.S75L|EMR2_ENST00000594076.1_Missense_Mutation_p.S75L|EMR2_ENST00000346057.1_Missense_Mutation_p.S75L|EMR2_ENST00000595839.1_Missense_Mutation_p.S75L|EMR2_ENST00000353005.1_Missense_Mutation_p.S75L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	75	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.S75L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGACACTTTCGACAGTGTTGC	0.542																																					p.S75L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C224T	19						.						147.0	108.0	121.0					19																	14883285		2203	4300	6503	14744285	SO:0001583	missense	30817	exon5			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.224C>T	19.37:g.14883285G>A	ENSP00000319883:p.Ser75Leu		14744285	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110948	0.06924	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	3.95	-7.9	0.01169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79770	0.4503	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B;B;B	0.23490	0.002;0.018;0.003;0.086;0.01;0.037;0.03	B;B;B;B;B;B;B	0.18263	0.001;0.003;0.002;0.021;0.003;0.005;0.004	T	0.65985	-0.6035	9	0.21540	T	0.41	.	7.3734	0.26815	0.2045:0.3655:0.43:0.0	.	75;75;75;75;75;75;75	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	L	75	ENSP00000319883:S75L;ENSP00000376694:S75L;ENSP00000263380:S75L;ENSP00000319454:S75L;ENSP00000319838:S75L;ENSP00000376692:S75L;ENSP00000376689:S75L	ENSP00000319883:S75L	S	-	2	0	EMR2	14744285	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.195000	0.00563	-2.497000	0.00513	-0.445000	0.05633	TCG		0.542	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
CASP14	23581	broad.mit.edu	37	19	15164395	15164395	+	Missense_Mutation	SNP	C	C	T	rs61731993	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15164395C>T	ENST00000427043.3	+	3	438	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R44W	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	44					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R44W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACACATGTTTCGGCAGCTGAG	0.532													C|||	6	0.00119808	0.0008	0.0	5008	,	,		18628	0.0		0.0	False		,,,				2504	0.0051				p.R44W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C130T	19						.	C	TRP/ARG	0,4406		0,0,2203	97.0	93.0	95.0		130	-2.3	0.1	19	dbSNP_129	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	CASP14	NM_012114.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	44/243	15164395	1,13005	2203	4300	6503	15025395	SO:0001583	missense	23581	exon3				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.130C>T	19.37:g.15164395C>T	ENSP00000393417:p.Arg44Trp		15025395	NM_012114	O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.309140	0.23821	0.0	1.16E-4	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.22539	1.95;1.95	4.91	-2.3	0.06785	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.740041	0.12562	N	0.458063	T	0.20780	0.0500	M	0.70275	2.135	0.09310	N	1	P	0.45531	0.86	B	0.40329	0.326	T	0.19192	-1.0313	10	0.52906	T	0.07	.	8.3181	0.32113	0.2579:0.3604:0.3817:0.0	rs61731993	44	P31944	CASPE_HUMAN	W	44	ENSP00000393417:R44W;ENSP00000221740:R44W	ENSP00000221740:R44W	R	+	1	2	CASP14	15025395	0.011000	0.17503	0.071000	0.20095	0.103000	0.19146	-0.012000	0.12699	0.058000	0.16222	0.306000	0.20318	CGG		0.532	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114	
CASP14	23581	broad.mit.edu	37	19	15164711	15164711	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15164711G>T	ENST00000427043.3	+	4	653	c.345G>T	c.(343-345)aaG>aaT	p.K115N	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.K115N	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	115					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.K115N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGAACAACAAGAACTGCCAGG	0.552																																					p.K115N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G345T	19						.						91.0	84.0	86.0					19																	15164711		2203	4300	6503	15025711	SO:0001583	missense	23581	exon4				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.345G>T	19.37:g.15164711G>T	ENSP00000393417:p.Lys115Asn		15025711	NM_012114	O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	17.69	3.450899	0.63290	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.20738	2.05;2.05	5.27	1.98	0.26296	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.56097	D	0.000025	T	0.26774	0.0655	L	0.33624	1.015	0.34616	D	0.718093	D	0.76494	0.999	D	0.87578	0.998	T	0.29701	-1.0003	10	0.15952	T	0.53	.	7.2116	0.25937	0.2814:0.0:0.7186:0.0	.	115	P31944	CASPE_HUMAN	N	115	ENSP00000393417:K115N;ENSP00000221740:K115N	ENSP00000221740:K115N	K	+	3	2	CASP14	15025711	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.643000	0.46604	0.229000	0.21039	0.306000	0.20318	AAG		0.552	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114	
OR1I1	126370	broad.mit.edu	37	19	15198262	15198262	+	Missense_Mutation	SNP	C	C	T	rs201426979		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15198262C>T	ENST00000209540.2	+	1	472	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P129L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						ATTGTCCACCCACAGCGTTAC	0.572													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21456	0.0		0.0	False		,,,				2504	0.0				p.P129L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	19						.						83.0	69.0	73.0					19																	15198262		2203	4300	6503	15059262	SO:0001583	missense	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.386C>T	19.37:g.15198262C>T	ENSP00000209540:p.Pro129Leu		15059262	NM_001004713	Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	12.84	2.058271	0.36277	.	.	ENSG00000094661	ENST00000209540	T	0.01902	4.57	4.8	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31760	U	0.007110	T	0.19685	0.0473	H	0.97783	4.075	0.48901	D	0.999727	D	0.89917	1.0	D	0.97110	1.0	T	0.03773	-1.1005	10	0.87932	D	0	.	9.4135	0.38507	0.0:0.8249:0.0:0.1751	.	129	O60431	OR1I1_HUMAN	L	129	ENSP00000209540:P129L	ENSP00000209540:P129L	P	+	2	0	OR1I1	15059262	0.903000	0.30736	0.273000	0.24645	0.000000	0.00434	3.036000	0.49767	0.651000	0.30788	-0.993000	0.02533	CCA		0.572	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
OR1I1	126370	broad.mit.edu	37	19	15198473	15198473	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15198473C>T	ENST00000209540.2	+	1	683	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I199I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						AGCTGGTGATCTTTGCTTTTG	0.542																																					p.I199I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C597T	19						.						146.0	118.0	128.0					19																	15198473		2203	4300	6503	15059473	SO:0001819	synonymous_variant	126370	exon1			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.597C>T	19.37:g.15198473C>T			15059473	NM_001004713	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1		
SYDE1	85360	broad.mit.edu	37	19	15224675	15224675	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15224675C>T	ENST00000342784.2	+	8	2140	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	SYDE1_ENST00000600440.1_Silent_p.F636F|SYDE1_ENST00000600252.1_Silent_p.F360F	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	703					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.F703F(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AAGACGACTTCGATGCGCCCT	0.602																																					p.F703F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2109T	19						.						138.0	147.0	144.0					19																	15224675		2203	4300	6503	15085675	SO:0001819	synonymous_variant	85360	exon8			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2109C>T	19.37:g.15224675C>T			15085675	NM_033025	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	CCDS12324.1																																																																																				0.602	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025	
BRD4	23476	broad.mit.edu	37	19	15355563	15355563	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15355563C>T	ENST00000263377.2	-	12	2390	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	723					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.P723P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTTTTGACTTCGGAGCCATCT	0.567			T	C15orf55	lethal midline carcinoma of young people																																p.P723P			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2169A	19						.						113.0	112.0	113.0					19																	15355563		2203	4300	6503	15216563	SO:0001819	synonymous_variant	23476	exon12			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2169G>A	19.37:g.15355563C>T			15216563	NM_058243	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	CCDS12328.1																																																																																				0.567	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	
PGLYRP2	114770	broad.mit.edu	37	19	15587015	15587015	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15587015G>A	ENST00000340880.4	-	2	946	c.466C>T	c.(466-468)Cca>Tca	p.P156S	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P156S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	156					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)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|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.P156S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						ACAACATCTGGAAAGGTATCT	0.587																																					p.P156S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C466T	19						.						77.0	73.0	75.0					19																	15587015		2203	4300	6503	15448015	SO:0001583	missense	114770	exon2			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.466C>T	19.37:g.15587015G>A	ENSP00000345968:p.Pro156Ser		15448015	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019467	0.19355	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05925	3.44;3.37	3.56	-0.0382	0.13881	.	1.041250	0.07660	N	0.933440	T	0.06826	0.0174	M	0.63428	1.95	0.09310	N	1	B;B	0.31581	0.138;0.329	B;B	0.28849	0.055;0.095	T	0.43310	-0.9399	10	0.20046	T	0.44	-7.6565	4.3179	0.11002	0.2428:0.1944:0.5628:0.0	.	156;156	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	S	156	ENSP00000345968:P156S;ENSP00000292609:P156S	ENSP00000292609:P156S	P	-	1	0	PGLYRP2	15448015	0.010000	0.17322	0.016000	0.15963	0.037000	0.13140	0.494000	0.22467	0.146000	0.19002	0.467000	0.42956	CCA		0.587	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
PGLYRP2	114770	broad.mit.edu	37	19	15587160	15587160	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15587160T>G	ENST00000340880.4	-	2	801	c.321A>C	c.(319-321)gaA>gaC	p.E107D	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.E107D	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	107					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)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|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.E107D(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCACCCCATATTCCTTCCCTT	0.612																																					p.E107D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A321C	19						.						171.0	123.0	139.0					19																	15587160		2203	4300	6503	15448160	SO:0001583	missense	114770	exon2			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.321A>C	19.37:g.15587160T>G	ENSP00000345968:p.Glu107Asp		15448160	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487564	0.64074	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.28069	1.81;1.63	5.27	-1.39	0.08997	.	0.139042	0.44483	D	0.000453	T	0.52289	0.1725	M	0.83483	2.645	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.48875	-0.8996	10	0.87932	D	0	-8.2869	10.6311	0.45536	0.0:0.8085:0.0:0.1915	.	107;107	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	D	107	ENSP00000345968:E107D;ENSP00000292609:E107D	ENSP00000292609:E107D	E	-	3	2	PGLYRP2	15448160	0.334000	0.24739	0.000000	0.03702	0.004000	0.04260	0.405000	0.21015	-0.475000	0.06852	-0.376000	0.06991	GAA		0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
CYP4F22	126410	broad.mit.edu	37	19	15640536	15640536	+	Missense_Mutation	SNP	C	C	T	rs116743462		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15640536C>T	ENST00000269703.3	+	4	438	c.239C>T	c.(238-240)gCg>gTg	p.A80V	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A80V	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	80						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.A80V(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCAAATGAGGCGGGCCTTCAA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18960	0.0		0.0	False		,,,				2504	0.0				p.A80V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239T	19						.						109.0	87.0	94.0					19																	15640536		2203	4300	6503	15501536	SO:0001583	missense	126410	exon4				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.239C>T	19.37:g.15640536C>T	ENSP00000269703:p.Ala80Val		15501536	NM_173483	Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	CCDS12331.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.09	2.432811	0.43224	.	.	ENSG00000171954	ENST00000269703	D	0.88201	-2.35	5.5	-3.98	0.04082	.	1.652790	0.03063	N	0.156083	T	0.76535	0.4001	N	0.05414	-0.055	0.09310	N	1	B	0.12630	0.006	B	0.22880	0.042	T	0.64980	-0.6279	10	0.52906	T	0.07	.	5.1083	0.14796	0.513:0.1869:0.0:0.3001	.	80	Q6NT55	CP4FN_HUMAN	V	80	ENSP00000269703:A80V	ENSP00000269703:A80V	A	+	2	0	CYP4F22	15501536	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-1.005000	0.03674	-0.653000	0.05401	0.561000	0.74099	GCG		0.557	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
OR10H1	26539	broad.mit.edu	37	19	15917911	15917911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:15917911C>A	ENST00000334920.2	-	1	1025	c.937G>T	c.(937-939)Gaa>Taa	p.E313*		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E313*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATTTTTTTCTGGGTAGAGT	0.448																																					p.E313X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G937T	19						.						85.0	83.0	84.0					19																	15917911		2203	4300	6503	15778911	SO:0001587	stop_gained	26539	exon1			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.937G>T	19.37:g.15917911C>A	ENSP00000335596:p.Glu313*		15778911	NM_013940	Q6IFQ2|Q96R59	Nonsense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.401539	0.42613	.	.	ENSG00000186723	ENST00000334920	.	.	.	4.02	-2.79	0.05841	.	2.742250	0.02273	U	0.068657	.	.	.	.	.	.	0.23416	N	0.997722	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.0418	0.01560	0.1671:0.1801:0.1503:0.5026	.	.	.	.	X	313	.	ENSP00000335596:E313X	E	-	1	0	OR10H1	15778911	0.002000	0.14202	0.002000	0.10522	0.005000	0.04900	0.036000	0.13819	-0.206000	0.10203	-0.157000	0.13467	GAA		0.448	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
OR10H4	126541	broad.mit.edu	37	19	16060764	16060764	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16060764C>T	ENST00000322107.1	+	1	947	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S316F(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCTCCAAGTTCCTGAGCGCCA	0.383																																					p.S316F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	19						.						29.0	31.0	30.0					19																	16060764		2193	4293	6486	15921764	SO:0001583	missense	126541	exon1			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.947C>T	19.37:g.16060764C>T	ENSP00000318834:p.Ser316Phe		15921764	NM_001004465	Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412196	0.25465	.	.	ENSG00000176231	ENST00000322107	T	0.03496	3.91	1.38	0.285	0.15705	.	1.636630	0.04026	U	0.300632	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.55087	0.768	T	0.36016	-0.9765	10	0.87932	D	0	.	3.2704	0.06879	0.0:0.4973:0.0:0.5027	.	316	Q8NGA5	O10H4_HUMAN	F	316	ENSP00000318834:S316F	ENSP00000318834:S316F	S	+	2	0	OR10H4	15921764	0.079000	0.21365	0.017000	0.16124	0.015000	0.08874	1.183000	0.32041	0.735000	0.32537	0.305000	0.20034	TCC		0.383	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1		
TPM4	7171	broad.mit.edu	37	19	16192751	16192751	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16192751G>A	ENST00000300933.4	+	2	421	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	TPM4_ENST00000344824.6_Missense_Mutation_p.R90Q|TPM4_ENST00000538887.1_Missense_Mutation_p.R90Q	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	54					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.R90Q(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GCCCTCAACCGACGCATCCAG	0.612			T	ALK	ALCL																																p.R90Q			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	19						.						47.0	48.0	48.0					19																	16192751		2203	4300	6503	16053751	SO:0001583	missense	7171	exon3				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.161G>A	19.37:g.16192751G>A	ENSP00000300933:p.Arg54Gln		16053751	NM_001145160	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	ENST00000300933.4	37	CCDS12338.1	.	.	.	.	.	.	.	.	.	.	G	35	5.469738	0.96274	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	D;D;D	0.98807	-5.15;-5.15;-5.15	4.62	4.62	0.57501	.	0.000000	0.52532	U	0.000080	D	0.99483	0.9816	H	0.98068	4.14	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.73708	0.94;0.981	D	0.97985	1.0351	10	0.87932	D	0	-2.1957	16.8417	0.85971	0.0:0.0:1.0:0.0	.	54;90	P67936;P67936-2	TPM4_HUMAN;.	Q	90;90;54	ENSP00000345230:R90Q;ENSP00000439135:R90Q;ENSP00000300933:R54Q	ENSP00000300933:R54Q	R	+	2	0	TPM4	16053751	1.000000	0.71417	0.914000	0.36105	0.939000	0.58152	9.484000	0.97940	2.265000	0.75225	0.591000	0.81541	CGA		0.612	TPM4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459673.2	NM_003290	
EPS15L1	58513	broad.mit.edu	37	19	16472601	16472601	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16472601C>A	ENST00000248070.6	-	23	2714	c.2575G>T	c.(2575-2577)Gac>Tac	p.D859Y	EPS15L1_ENST00000455140.2_Missense_Mutation_p.D859Y|EPS15L1_ENST00000535753.2_3'UTR	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	859					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D859Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GAGGTGAAGTCTGCAAAGCCC	0.537																																					p.D859Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2575T	19						.						43.0	47.0	46.0					19																	16472601		2203	4300	6503	16333601	SO:0001583	missense	58513	exon23			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2575G>T	19.37:g.16472601C>A	ENSP00000248070:p.Asp859Tyr		16333601	NM_021235	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472886	0.63737	.	.	ENSG00000127527	ENST00000455140;ENST00000248070	T;T	0.53206	0.63;0.63	4.96	4.96	0.65561	.	0.173311	0.49305	D	0.000153	T	0.54711	0.1875	L	0.44542	1.39	0.80722	D	1	D;P	0.76494	0.999;0.85	P;B	0.60173	0.87;0.325	T	0.57318	-0.7832	10	0.72032	D	0.01	.	10.7817	0.46382	0.0:0.9131:0.0:0.0869	.	859;859	Q9UBC2;G3V0H2	EP15R_HUMAN;.	Y	859	ENSP00000393313:D859Y;ENSP00000248070:D859Y	ENSP00000248070:D859Y	D	-	1	0	EPS15L1	16333601	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.848000	0.39309	2.318000	0.78349	0.561000	0.74099	GAC		0.537	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	
EPS15L1	58513	broad.mit.edu	37	19	16513194	16513194	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16513194T>C	ENST00000248070.6	-	16	1868	c.1729A>G	c.(1729-1731)Acc>Gcc	p.T577A	EPS15L1_ENST00000597937.1_Missense_Mutation_p.T577A|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T577A|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T577A|EPS15L1_ENST00000602009.1_Missense_Mutation_p.T423A|EPS15L1_ENST00000535753.2_Missense_Mutation_p.T577A	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	577					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T577A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCAGGTCGGTCAGGCTGGCA	0.577																																					p.T577A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1729G	19						.						97.0	88.0	91.0					19																	16513194		2203	4300	6503	16374194	SO:0001583	missense	58513	exon16			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1729A>G	19.37:g.16513194T>C	ENSP00000248070:p.Thr577Ala		16374194	NM_021235	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	7.019	0.558383	0.13436	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.30182	1.95;1.95;1.54	5.29	1.95	0.26073	.	0.237782	0.42053	N	0.000780	T	0.14313	0.0346	N	0.19112	0.55	0.22873	N	0.998628	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001	T	0.18085	-1.0348	10	0.24483	T	0.36	.	2.3317	0.04237	0.1496:0.0858:0.1673:0.5972	.	577;577;576;577;577;577	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	A	577	ENSP00000393313:T577A;ENSP00000248070:T577A;ENSP00000440103:T577A	ENSP00000248070:T577A	T	-	1	0	EPS15L1	16374194	1.000000	0.71417	0.073000	0.20177	0.110000	0.19582	1.932000	0.40143	0.023000	0.15187	0.533000	0.62120	ACC		0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	
C19orf44	84167	broad.mit.edu	37	19	16612252	16612252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16612252G>T	ENST00000221671.3	+	2	805	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	C19orf44_ENST00000594035.1_Nonsense_Mutation_p.E217*|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	217								p.E217*(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGACGAAGAAGAAATGAAAGT	0.443																																					p.E217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G649T	19						.						77.0	81.0	80.0					19																	16612252		2203	4299	6502	16473252	SO:0001587	stop_gained	84167	exon2			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.649G>T	19.37:g.16612252G>T	ENSP00000221671:p.Glu217*		16473252	NM_032207	Q8N6Y7	Nonsense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425664	0.83667	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.16	5.16	0.70880	.	0.142263	0.45361	D	0.000376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.0791	12.0314	0.53399	0.0:0.1738:0.8262:0.0	.	.	.	.	X	217	.	ENSP00000221671:E217X	E	+	1	0	C19orf44	16473252	1.000000	0.71417	0.929000	0.37066	0.261000	0.26267	3.386000	0.52492	2.395000	0.81488	0.655000	0.94253	GAA		0.443	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
NWD1	284434	broad.mit.edu	37	19	16899834	16899834	+	Missense_Mutation	SNP	G	G	A	rs112298174	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16899834G>A	ENST00000552788.1	+	11	2773	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	NWD1_ENST00000524140.2_Missense_Mutation_p.A925T|NWD1_ENST00000339803.6_Missense_Mutation_p.A790T|NWD1_ENST00000379808.3_Missense_Mutation_p.A925T|NWD1_ENST00000549814.1_Missense_Mutation_p.A925T|NWD1_ENST00000523826.1_Missense_Mutation_p.A719T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	925							ATP binding (GO:0005524)	p.A790T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGGACCCTCGCCAACTCTGC	0.493													G|||	29	0.00579073	0.0212	0.0014	5008	,	,		19298	0.0		0.0	False		,,,				2504	0.0				p.A925T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2773A	19						.	G	THR/ALA	72,4334	65.8+/-103.3	0,72,2131	118.0	114.0	115.0		2773	5.7	0.1	19	dbSNP_132	115	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NWD1	NM_001007525.3	58	0,75,6428	AA,AG,GG		0.0349,1.6341,0.5767	possibly-damaging	925/1433	16899834	75,12931	2203	4300	6503	16760834	SO:0001583	missense	284434	exon13			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2773G>A	19.37:g.16899834G>A	ENSP00000447224:p.Ala925Thr		16760834	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	14.54	2.567166	0.45694	0.016341	3.49E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.199793	0.44097	D	0.000498	T	0.50309	0.1608	L	0.60904	1.88	0.28380	N	0.919596	D;D;D	0.69078	0.963;0.997;0.992	P;P;P	0.54431	0.59;0.752;0.699	T	0.59177	-0.7503	10	0.49607	T	0.09	-19.0545	15.2049	0.73173	0.0:0.0:1.0:0.0	.	925;925;790	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	790;925;925;925;719;925;790	ENSP00000428579:A925T;ENSP00000447548:A925T;ENSP00000369136:A925T;ENSP00000428955:A719T;ENSP00000447224:A925T;ENSP00000340159:A790T	ENSP00000340159:A790T	A	+	1	0	NWD1	16760834	1.000000	0.71417	0.094000	0.20943	0.037000	0.13140	5.303000	0.65738	2.661000	0.90470	0.591000	0.81541	GCC		0.493	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
NWD1	284434	broad.mit.edu	37	19	16899951	16899951	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:16899951C>A	ENST00000552788.1	+	11	2890	c.2890C>A	c.(2890-2892)Ctt>Att	p.L964I	NWD1_ENST00000524140.2_Missense_Mutation_p.L964I|NWD1_ENST00000339803.6_Missense_Mutation_p.L829I|NWD1_ENST00000379808.3_Missense_Mutation_p.L964I|NWD1_ENST00000549814.1_Missense_Mutation_p.L964I|NWD1_ENST00000523826.1_Missense_Mutation_p.L758I			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	964							ATP binding (GO:0005524)	p.L829I(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GATCTGGAACCTTCATGTGGA	0.458																																					p.L964I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2890A	19						.						93.0	85.0	88.0					19																	16899951		2203	4300	6503	16760951	SO:0001583	missense	284434	exon13			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2890C>A	19.37:g.16899951C>A	ENSP00000447224:p.Leu964Ile		16760951	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	C	15.51	2.855200	0.51376	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.43688	1.44;0.94;1.44;3.47;3.47;3.47	5.35	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.46908	0.1417	N	0.20986	0.625	0.09310	N	1	D;D;D	0.89917	0.976;1.0;0.997	P;D;D	0.83275	0.535;0.996;0.991	T	0.33343	-0.9872	10	0.29301	T	0.29	-18.2572	11.5617	0.50780	0.1792:0.8208:0.0:0.0	.	964;964;829	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	I	829;964;964;964;758;964;829	ENSP00000428579:L964I;ENSP00000447548:L964I;ENSP00000369136:L964I;ENSP00000428955:L758I;ENSP00000447224:L964I;ENSP00000340159:L829I	ENSP00000340159:L829I	L	+	1	0	NWD1	16760951	0.966000	0.33281	0.060000	0.19600	0.079000	0.17450	2.691000	0.47010	1.348000	0.45733	0.591000	0.81541	CTT		0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
CPAMD8	27151	broad.mit.edu	37	19	17038831	17038831	+	Missense_Mutation	SNP	C	C	T	rs372897642		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17038831C>T	ENST00000443236.1	-	25	3530	c.3499G>A	c.(3499-3501)Gcc>Acc	p.A1167T		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1120						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A1167T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ATGATGGAGGCGGTGGCTCGC	0.622																																					p.A1167T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3499A	19						.	C	THR/ALA	0,4080		0,0,2040	43.0	51.0	48.0		3499	3.0	0.0	19		48	1,8367		0,1,4183	no	missense	CPAMD8	NM_015692.2	58	0,1,6223	TT,TC,CC		0.012,0.0,0.0080	probably-damaging	1167/1933	17038831	1,12447	2040	4184	6224	16899831	SO:0001583	missense	27151	exon25			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3499G>A	19.37:g.17038831C>T	ENSP00000402505:p.Ala1167Thr		16899831	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510497	0.44660	0.0	1.2E-4	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	.	0.240195	0.33309	N	0.005043	T	0.73426	0.3585	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.74581	-0.3618	9	0.45353	T	0.12	.	13.9882	0.64348	0.0:1.0:0.0:0.0	.	1120	Q8IZJ3	CPMD8_HUMAN	T	1167	.	ENSP00000291440:A1167T	A	-	1	0	CPAMD8	16899831	1.000000	0.71417	0.014000	0.15608	0.035000	0.12851	6.465000	0.73538	1.237000	0.43756	0.655000	0.94253	GCC		0.622	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CPAMD8	27151	broad.mit.edu	37	19	17040037	17040037	+	Silent	SNP	G	G	T	rs375563538		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17040037G>T	ENST00000443236.1	-	24	3031	c.3000C>A	c.(2998-3000)atC>atA	p.I1000I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	953						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I1000I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGGGGTGGAGATGTGGACTC	0.582																																					p.I1000I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3000A	19						.						49.0	55.0	53.0					19																	17040037		2078	4213	6291	16901037	SO:0001819	synonymous_variant	27151	exon24			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3000C>A	19.37:g.17040037G>T			16901037	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993596	0.19043	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.39	2.22	0.28083	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37220	-0.9715	4	.	.	.	.	3.1349	0.06436	0.6215:0.0:0.3785:0.0	.	.	.	.	Y	1011	.	.	S	-	2	0	CPAMD8	16901037	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.263000	0.43293	1.460000	0.47911	0.650000	0.86243	TCT		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CPAMD8	27151	broad.mit.edu	37	19	17086913	17086913	+	Missense_Mutation	SNP	C	C	T	rs374113157		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17086913C>T	ENST00000443236.1	-	16	1979	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	603						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D650N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ATCCGCAGGTCGACAACCTCC	0.557																																					p.D650N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1948A	19						.	C	ASN/ASP	1,4119		0,1,2059	42.0	46.0	45.0		1948	2.9	0.0	19		45	0,8412		0,0,4206	no	missense	CPAMD8	NM_015692.2	23	0,1,6265	TT,TC,CC		0.0,0.0243,0.0080	benign	650/1933	17086913	1,12531	2060	4206	6266	16947913	SO:0001583	missense	27151	exon16			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1948G>A	19.37:g.17086913C>T	ENSP00000402505:p.Asp650Asn		16947913	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	0.241	-1.013373	0.02095	2.43E-4	0.0	ENSG00000160111	ENST00000291440	.	.	.	2.89	2.89	0.33648	Alpha-2-macroglobulin, N-terminal 2 (1);	0.274070	0.31020	N	0.008417	T	0.26122	0.0637	L	0.33485	1.01	0.19945	N	0.999946	B	0.19583	0.037	B	0.17979	0.02	T	0.16571	-1.0398	9	0.09590	T	0.72	.	8.8142	0.34985	0.0:0.8685:0.0:0.1315	.	603	Q8IZJ3	CPMD8_HUMAN	N	650	.	ENSP00000291440:D650N	D	-	1	0	CPAMD8	16947913	0.940000	0.31905	0.004000	0.12327	0.002000	0.02628	1.800000	0.38833	1.351000	0.45789	0.561000	0.74099	GAC		0.557	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
CPAMD8	27151	broad.mit.edu	37	19	17091315	17091315	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17091315G>T	ENST00000443236.1	-	14	1749	c.1718C>A	c.(1717-1719)tCt>tAt	p.S573Y	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	526						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S573Y(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACCTGTCTCAGAAAGGTGTGT	0.572																																					p.S573Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1718A	19						.						51.0	56.0	54.0					19																	17091315		1970	4147	6117	16952315	SO:0001583	missense	27151	exon14			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1718C>A	19.37:g.17091315G>T	ENSP00000402505:p.Ser573Tyr		16952315	NM_015692	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.013991|4.013991	0.75161|0.75161	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.9|2.9	1.83|1.83	0.25207|0.25207	.|Alpha-2-macroglobulin, N-terminal 2 (1);	.|0.942978	.|0.08694	.|U	.|0.907511	T|T	0.49881|0.49881	0.1583|0.1583	L|L	0.40543|0.40543	1.245|1.245	0.54753|0.54753	D|D	0.999989|0.999989	.|P	.|0.50710	.|0.938	.|P	.|0.52109	.|0.69	T|T	0.40961|0.40961	-0.9535|-0.9535	5|9	.|0.12103	.|T	.|0.63	.|.	8.0621|8.0621	0.30640|0.30640	0.1203:0.0:0.8796:0.0|0.1203:0.0:0.8796:0.0	.|.	.|526	.|Q8IZJ3	.|CPMD8_HUMAN	M|Y	584|573	.|.	.|ENSP00000291440:S573Y	L|S	-|-	1|2	2|0	CPAMD8|CPAMD8	16952315|16952315	0.996000|0.996000	0.38824|0.38824	0.441000|0.441000	0.26858|0.26858	0.880000|0.880000	0.50808|0.50808	3.026000|3.026000	0.49689|0.49689	0.223000|0.223000	0.20920|0.20920	0.467000|0.467000	0.42956|0.42956	CTG|TCT		0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
HAUS8	93323	broad.mit.edu	37	19	17163678	17163678	+	Missense_Mutation	SNP	C	C	T	rs538139096	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17163678C>T	ENST00000253669.5	-	10	1076	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	HAUS8_ENST00000448593.2_Missense_Mutation_p.E295K|HAUS8_ENST00000593360.1_Missense_Mutation_p.E235K|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	296					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E296K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TCCTTGAGTTCGCTCAGTAAG	0.532											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0008	0.0	5008	,	,		21088	0.0		0.0	False		,,,				2504	0.0031				p.E295K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883A	19						.						194.0	164.0	174.0					19																	17163678		2203	4300	6503	17024678	SO:0001583	missense	93323	exon10			BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.886G>A	19.37:g.17163678C>T	ENSP00000253669:p.Glu296Lys	715	17024678	NM_001011699	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381752	0.82792	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.75477	-0.94;-0.94	4.64	4.64	0.57946	.	0.086838	0.46145	D	0.000319	T	0.81004	0.4733	L	0.46157	1.445	0.26772	N	0.969785	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.968;0.978;0.978	T	0.74070	-0.3783	10	0.72032	D	0.01	-29.4659	13.0094	0.58724	0.0:1.0:0.0:0.0	.	235;295;296	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	K	296;295	ENSP00000253669:E296K;ENSP00000395298:E295K	ENSP00000253669:E296K	E	-	1	0	HAUS8	17024678	0.981000	0.34729	0.162000	0.22713	0.353000	0.29299	3.356000	0.52269	2.129000	0.65627	0.561000	0.74099	GAA		0.532	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699	
NR2F6	2063	broad.mit.edu	37	19	17343227	17343227	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17343227C>A	ENST00000291442.3	-	4	1868	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	383	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.E383D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						TGATCAGTGTCTCAATGGGCG	0.667																																					p.E383D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1149T	19						.						74.0	66.0	69.0					19																	17343227		2203	4300	6503	17204227	SO:0001583	missense	2063	exon4			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1149G>T	19.37:g.17343227C>A	ENSP00000291442:p.Glu383Asp		17204227	NM_005234	B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	37	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920612	0.52653	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.47869	0.83	4.71	2.57	0.30868	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	N	0.12443	0.215	0.52099	D	0.99994	D	0.63046	0.992	D	0.77004	0.989	T	0.48725	-0.9010	10	0.02654	T	1	.	6.0882	0.19978	0.0:0.6974:0.0:0.3026	.	383	P10588	NR2F6_HUMAN	D	383;356	ENSP00000291442:E383D	ENSP00000291442:E383D	E	-	3	2	NR2F6	17204227	0.997000	0.39634	0.993000	0.49108	0.833000	0.47200	0.492000	0.22435	0.975000	0.38392	0.555000	0.69702	GAG		0.667	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1		
USHBP1	83878	broad.mit.edu	37	19	17366231	17366231	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17366231C>T	ENST00000252597.3	-	10	1828	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	USHBP1_ENST00000431146.2_Missense_Mutation_p.G488E|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.G552E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCTGCCACCTCCGCTGCTATG	0.622																																					p.G552E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655A	19						.						63.0	67.0	66.0					19																	17366231		2203	4300	6503	17227231	SO:0001583	missense	83878	exon10			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1655G>A	19.37:g.17366231C>T	ENSP00000252597:p.Gly552Glu		17227231	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094164	0.20471	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.18657	2.21;2.2	4.92	-2.84	0.05751	.	1.157650	0.06295	N	0.699923	T	0.09468	0.0233	L	0.31294	0.92	0.09310	N	0.999999	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.31943	-0.9925	10	0.02654	T	1	-3.4088	0.1965	0.00140	0.3028:0.2682:0.1486:0.2804	.	488;552	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	E	552;488	ENSP00000252597:G552E;ENSP00000407902:G488E	ENSP00000252597:G552E	G	-	2	0	USHBP1	17227231	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.547000	0.06055	-0.460000	0.07003	-0.181000	0.13052	GGA		0.622	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
USHBP1	83878	broad.mit.edu	37	19	17370501	17370501	+	Missense_Mutation	SNP	C	C	T	rs147305519		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17370501C>T	ENST00000252597.3	-	6	982	c.809G>A	c.(808-810)cGc>cAc	p.R270H	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.R206H	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.R270H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGAATGGCTGCGGAGGCGCCG	0.577																																					p.R270H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	19						.	T	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	73.0	82.0	79.0		809	-8.9	0.0	19	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	yes	missense	USHBP1	NM_031941.3	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	270/704	17370501	3,13003	2203	4300	6503	17231501	SO:0001583	missense	83878	exon6			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.809G>A	19.37:g.17370501C>T	ENSP00000252597:p.Arg270His		17231501	NM_031941		Missense_Mutation	SNP	ENST00000252597.3	37	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	4.605	0.112465	0.08831	4.54E-4	1.16E-4	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.24151	1.87;1.87	5.12	-8.9	0.00782	.	0.917493	0.08960	N	0.868881	T	0.15349	0.0370	N	0.20986	0.625	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.21621	-1.0240	10	0.39692	T	0.17	-2.5778	15.7192	0.77694	0.0:0.2727:0.0:0.7273	.	206;270;270	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	H	270;206;270	ENSP00000252597:R270H;ENSP00000407902:R206H	ENSP00000252597:R270H	R	-	2	0	USHBP1	17231501	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.346000	0.01096	-1.682000	0.01446	-3.330000	0.00044	CGC		0.577	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941	
ANKLE1	126549	broad.mit.edu	37	19	17394193	17394193	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17394193C>T	ENST00000394458.3	+	5	896	c.620C>T	c.(619-621)gCg>gTg	p.A207V	ANKLE1_ENST00000598347.1_Missense_Mutation_p.A207V|ANKLE1_ENST00000594072.1_Missense_Mutation_p.A196V|ANKLE1_ENST00000433424.2_Missense_Mutation_p.A261V|ANKLE1_ENST00000404085.1_Missense_Mutation_p.A229V	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	207								p.A193V(1)|p.A207V(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GGGAGCTCGGCGTCCCCTCCA	0.622																																					p.A207V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C620T	19						.						75.0	86.0	82.0					19																	17394193		2202	4300	6502	17255193	SO:0001583	missense	126549	exon5			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.620C>T	19.37:g.17394193C>T	ENSP00000377971:p.Ala207Val		17255193	NM_152363	A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244442	0.39697	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.72167	-0.49;-0.58;-0.63	3.3	-0.662	0.11413	.	5.126170	0.00597	N	0.000379	T	0.47619	0.1455	N	0.14661	0.345	0.09310	N	1	D;P;P;B	0.58268	0.982;0.871;0.604;0.029	B;B;B;B	0.38296	0.27;0.206;0.071;0.003	T	0.45991	-0.9223	10	0.15066	T	0.55	-46.7434	4.9624	0.14072	0.5963:0.2733:0.1303:0.0	.	207;193;207;196	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	V	207;261;229;196;207	ENSP00000384753:A207V;ENSP00000394460:A261V;ENSP00000384008:A229V	ENSP00000377971:A196V	A	+	2	0	ANKLE1	17255193	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	-0.634000	0.05477	-0.271000	0.09272	0.313000	0.20887	GCG		0.622	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363	
PLVAP	83483	broad.mit.edu	37	19	17476358	17476358	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17476358G>A	ENST00000252590.4	-	3	977	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	306					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R306C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCTTCTGGCGTTGGAGGTCT	0.662																																					p.R306C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916T	19						.						35.0	32.0	33.0					19																	17476358		2203	4300	6503	17337358	SO:0001583	missense	83483	exon3			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.916C>T	19.37:g.17476358G>A	ENSP00000252590:p.Arg306Cys		17337358	NM_031310	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590272	0.66105	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.42	3.1	0.35709	.	0.538685	0.19998	N	0.101405	T	0.57051	0.2027	L	0.34521	1.04	0.39386	D	0.966335	D	0.89917	1.0	D	0.73380	0.98	T	0.59166	-0.7505	9	0.62326	D	0.03	-24.553	7.9928	0.30250	0.0:0.1766:0.6406:0.1828	.	306	Q9BX97	PLVAP_HUMAN	C	306	.	ENSP00000252590:R306C	R	-	1	0	PLVAP	17337358	0.986000	0.35501	0.936000	0.37596	0.755000	0.42902	1.365000	0.34182	1.249000	0.43950	0.462000	0.41574	CGC		0.662	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310	
PLVAP	83483	broad.mit.edu	37	19	17476993	17476993	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17476993C>T	ENST00000252590.4	-	2	442	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	127					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T127T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCTGATTGTTCGTGTAGATGA	0.542																																					p.T127T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G381A	19						.						203.0	177.0	186.0					19																	17476993		2203	4300	6503	17337993	SO:0001819	synonymous_variant	83483	exon2			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.381G>A	19.37:g.17476993C>T			17337993	NM_031310	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	CCDS32952.1																																																																																				0.542	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310	
BST2	684	broad.mit.edu	37	19	17514561	17514561	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17514561G>A	ENST00000252593.6	-	4	558	c.486C>T	c.(484-486)tcC>tcT	p.S162S	BST2_ENST00000527220.1_5'Flank|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	162					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.S162S(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						GCGCCGCAGCGGAGCTGGAGT	0.617																																					p.S162S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	19						.						86.0	86.0	86.0					19																	17514561		2203	4300	6503	17375561	SO:0001819	synonymous_variant	684	exon4				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.486C>T	19.37:g.17514561G>A			17375561	NM_004335	A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	37	CCDS12358.1																																																																																				0.617	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335	
MVB12A	93343	broad.mit.edu	37	19	17534604	17534604	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17534604C>A	ENST00000317040.7	+	6	1691	c.636C>A	c.(634-636)atC>atA	p.I212I	MVB12A_ENST00000528515.1_Missense_Mutation_p.S170Y|MVB12A_ENST00000392702.2_Silent_p.I172I|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000543795.1_Silent_p.I212I|MVB12A_ENST00000529939.1_Silent_p.I212I			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	212	Interaction with TSG101, VPS37B and VPS28.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)	p.I212I(1)									TCTATGGCATCTCAGGTGAGC	0.587																																					p.I212I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C636A	19						.						37.0	34.0	35.0					19																	17534604		2203	4299	6502	17395604	SO:0001819	synonymous_variant	93343	exon6			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.636C>A	19.37:g.17534604C>A			17395604	NM_138401	Q96I18	Silent	SNP	ENST00000317040.7	37	CCDS12359.1	.	.	.	.	.	.	.	.	.	.	.	11.39	1.624533	0.28889	.	.	ENSG00000141971	ENST00000528515	.	.	.	5.31	3.16	0.36331	.	.	.	.	.	T	0.62478	0.2431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61695	-0.7010	5	0.72032	D	0.01	-19.61	6.5814	0.22596	0.1784:0.7291:0.0:0.0925	.	.	.	.	Y	170	.	ENSP00000433677:S170Y	S	+	2	0	FAM125A	17395604	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	0.612000	0.24283	0.602000	0.29896	0.558000	0.71614	TCT		0.587	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401	
NXNL1	115861	broad.mit.edu	37	19	17571367	17571367	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17571367C>A	ENST00000301944.2	-	1	396	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CTD-2521M24.10_ENST00000594663.1_Missense_Mutation_p.E11D	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	104	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E104D(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TCAGATCATCCTCAAAGGGCA	0.562																																					p.E104D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G312T	19						.						69.0	53.0	59.0					19																	17571367		2203	4300	6503	17432367	SO:0001583	missense	115861	exon1			BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"""thioredoxin-like 6"""	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.312G>T	19.37:g.17571367C>A	ENSP00000305631:p.Glu104Asp		17432367	NM_138454	Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	c	3.305	-0.142130	0.06669	.	.	ENSG00000171773	ENST00000301944	T	0.79141	-1.24	3.92	0.341	0.15991	Thioredoxin-like fold (3);	0.606668	0.17607	N	0.168214	T	0.52158	0.1717	N	0.16478	0.41	0.33014	D	0.527933	B	0.09022	0.002	B	0.12156	0.007	T	0.40079	-0.9582	10	0.09843	T	0.71	-13.7588	3.0451	0.06151	0.2032:0.4645:0.0:0.3324	.	104	Q96CM4	NXNL1_HUMAN	D	104	ENSP00000305631:E104D	ENSP00000305631:E104D	E	-	3	2	NXNL1	17432367	0.996000	0.38824	0.988000	0.46212	0.508000	0.34012	0.460000	0.21924	0.276000	0.22118	0.467000	0.42956	GAG		0.562	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454	
SLC27A1	376497	broad.mit.edu	37	19	17615280	17615280	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17615280G>A	ENST00000252595.7	+	12	1897	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q	SLC27A1_ENST00000442725.1_Silent_p.Q600Q|SLC27A1_ENST00000598424.1_Silent_p.Q421Q|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	600					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.Q600Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAAGATCCAGAAGACGAGGC	0.587																																					p.Q600Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1800A	19						.						86.0	74.0	78.0					19																	17615280		2203	4300	6503	17476280	SO:0001819	synonymous_variant	376497	exon12			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1800G>A	19.37:g.17615280G>A			17476280	NM_198580	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																				0.587	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
FAM129C	199786	broad.mit.edu	37	19	17643117	17643117	+	Missense_Mutation	SNP	C	C	T	rs536652149		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17643117C>T	ENST00000335393.4	+	4	463	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	FAM129C_ENST00000332386.5_Missense_Mutation_p.R109W|FAM129C_ENST00000300971.2_Missense_Mutation_p.R109W|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Missense_Mutation_p.R55W|FAM129C_ENST00000599124.1_Missense_Mutation_p.R78W|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.R109W|FAM129C_ENST00000595684.1_Missense_Mutation_p.R109W|FAM129C_ENST00000599164.1_Missense_Mutation_p.R78W|FAM129C_ENST00000601861.1_Missense_Mutation_p.R78W	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	109								p.R109W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GACCCAGCTTCGGGGCCACCC	0.662																																					p.R109W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325T	19						.						61.0	60.0	60.0					19																	17643117		2203	4299	6502	17504117	SO:0001583	missense	199786	exon4			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.325C>T	19.37:g.17643117C>T	ENSP00000335040:p.Arg109Trp		17504117	NM_173544	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595478	0.28445	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.13	-0.563	0.11778	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.161840	0.06705	N	0.772089	T	0.09818	0.0241	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.18013	0.025;0.025	B;B	0.14578	0.011;0.011	T	0.36432	-0.9748	10	0.49607	T	0.09	-6.3877	4.0478	0.09781	0.0:0.5378:0.1738:0.2884	.	109;109	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	W	109;109;109;109;55	ENSP00000335040:R109W;ENSP00000333447:R109W;ENSP00000341067:R109W;ENSP00000300971:R109W	ENSP00000300971:R109W	R	+	1	2	FAM129C	17504117	0.000000	0.05858	0.005000	0.12908	0.880000	0.50808	-0.914000	0.04038	-0.159000	0.11021	0.491000	0.48974	CGG		0.662	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
UNC13A	23025	broad.mit.edu	37	19	17746859	17746859	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17746859C>A	ENST00000519716.2	-	26	3188	c.3189G>T	c.(3187-3189)aaG>aaT	p.K1063N	UNC13A_ENST00000428389.2_Missense_Mutation_p.K1151N|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1061N|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1063N|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1063N|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1063N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1063					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.K1063N(1)|p.K1151N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGTAGGAATTCTTGTCTTCCT	0.468																																					p.K1063N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3189T	19						.						79.0	76.0	77.0					19																	17746859		1976	4163	6139	17607859	SO:0001583	missense	23025	exon25			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3189G>T	19.37:g.17746859C>A	ENSP00000429562:p.Lys1063Asn		17607859	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175384	0.57692	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83419	-1.7;-1.72;-1.7;-1.56;-1.58;-1.71	3.52	1.37	0.22104	Calcium-dependent secretion activator (1);	0.000000	0.85682	U	0.000000	D	0.85124	0.5625	M	0.63843	1.955	0.44439	D	0.997363	P	0.46220	0.874	P	0.57620	0.824	T	0.82012	-0.0668	10	0.56958	D	0.05	-20.7874	7.2247	0.26007	0.0:0.7705:0.0:0.2295	.	1063	Q9UPW8	UN13A_HUMAN	N	1063;1151;1063;1063;1063;1061	ENSP00000429562:K1063N;ENSP00000400409:K1151N;ENSP00000252773:K1063N;ENSP00000447236:K1063N;ENSP00000447572:K1063N;ENSP00000446831:K1061N	ENSP00000252773:K1063N	K	-	3	2	UNC13A	17607859	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.871000	0.28023	0.213000	0.20722	0.305000	0.20034	AAG		0.468	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17746965	17746965	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17746965G>A	ENST00000519716.2	-	26	3082	c.3083C>T	c.(3082-3084)gCc>gTc	p.A1028V	UNC13A_ENST00000428389.2_Splice_Site_p.A1116V|UNC13A_ENST00000550896.1_Splice_Site_p.A1026V|UNC13A_ENST00000252773.7_Splice_Site_p.A1028V|UNC13A_ENST00000551649.1_Splice_Site_p.A1028V|UNC13A_ENST00000552293.1_Splice_Site_p.A1028V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1028					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.A1028V(1)|p.A1116V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCCTTCTTGGCCTGAAATGG	0.507																																					p.A1028V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3083T	19						.						54.0	51.0	52.0					19																	17746965		1892	4129	6021	17607965	SO:0001630	splice_region_variant	23025	exon25			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3082-1C>T	19.37:g.17746965G>A			17607965	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335058	0.24253	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;D;T;T;T;T	0.81499	-1.49;-1.5;-1.49;-1.35;-1.36;-1.48	3.34	3.34	0.38264	Calcium-dependent secretion activator (1);	0.487547	0.17814	U	0.161091	T	0.60932	0.2307	N	0.03608	-0.345	0.29502	N	0.854876	B	0.15719	0.014	B	0.16722	0.016	T	0.60115	-0.7326	10	0.48119	T	0.1	-12.6742	12.1977	0.54307	0.0:0.0:1.0:0.0	.	1028	Q9UPW8	UN13A_HUMAN	V	1028;1116;1028;1028;1028;1026	ENSP00000429562:A1028V;ENSP00000400409:A1116V;ENSP00000252773:A1028V;ENSP00000447236:A1028V;ENSP00000447572:A1028V;ENSP00000446831:A1026V	ENSP00000252773:A1028V	A	-	2	0	UNC13A	17607965	0.964000	0.33143	1.000000	0.80357	0.727000	0.41649	2.331000	0.43894	1.702000	0.51228	0.305000	0.20034	GCC		0.507	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Missense_Mutation
UNC13A	23025	broad.mit.edu	37	19	17750661	17750661	+	Silent	SNP	G	G	T	rs573302812		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17750661G>T	ENST00000519716.2	-	23	2843	c.2844C>A	c.(2842-2844)ctC>ctA	p.L948L	UNC13A_ENST00000428389.2_Silent_p.L1036L|UNC13A_ENST00000550896.1_Silent_p.L946L|UNC13A_ENST00000252773.7_Silent_p.L948L|UNC13A_ENST00000551649.1_Silent_p.L948L|UNC13A_ENST00000552293.1_Silent_p.L948L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	948					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.L948L(1)|p.L1036L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGTACATGGAGAGGTCAATCC	0.567																																					p.L948L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2844A	19						.						94.0	92.0	93.0					19																	17750661		2091	4224	6315	17611661	SO:0001819	synonymous_variant	23025	exon22			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2844C>A	19.37:g.17750661G>T			17611661	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
UNC13A	23025	broad.mit.edu	37	19	17752351	17752351	+	Silent	SNP	G	G	A	rs375584692		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17752351G>A	ENST00000519716.2	-	21	2486	c.2487C>T	c.(2485-2487)ttC>ttT	p.F829F	UNC13A_ENST00000428389.2_Silent_p.F917F|UNC13A_ENST00000550896.1_Silent_p.F827F|UNC13A_ENST00000252773.7_Silent_p.F829F|UNC13A_ENST00000551649.1_Silent_p.F829F|UNC13A_ENST00000552293.1_Silent_p.F829F	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	829					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.F829F(1)|p.F917F(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCGGTCACGAAGTGGAACA	0.572																																					p.F829F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2487T	19						.			1,4211		0,1,2105	93.0	91.0	92.0		2487	-3.5	0.4	19		92	1,8493		0,1,4246	no	coding-synonymous	UNC13A	NM_001080421.2		0,2,6351	AA,AG,GG		0.0118,0.0237,0.0157		829/1704	17752351	2,12704	2106	4247	6353	17613351	SO:0001819	synonymous_variant	23025	exon20			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2487C>T	19.37:g.17752351G>A			17613351	NM_001080421	E5RHY9	Silent	SNP	ENST00000519716.2	37	CCDS46013.2																																																																																				0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
MAP1S	55201	broad.mit.edu	37	19	17831830	17831830	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17831830C>A	ENST00000324096.4	+	2	355	c.204C>A	c.(202-204)ttC>ttA	p.F68L	MAP1S_ENST00000544059.2_Missense_Mutation_p.F42L|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	68	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.F68L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTGCCACCTTCTCCAGCATTG	0.587																																					p.F68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C204A	19						.						118.0	102.0	108.0					19																	17831830		2203	4300	6503	17692830	SO:0001583	missense	55201	exon2			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.204C>A	19.37:g.17831830C>A	ENSP00000325313:p.Phe68Leu		17692830	NM_018174	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	c	19.78	3.891257	0.72524	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.25912	1.77;1.77	3.87	2.81	0.32909	.	0.000000	0.50627	D	0.000113	T	0.26629	0.0651	L	0.59436	1.845	0.42869	D	0.994132	B;B;B	0.30455	0.234;0.28;0.172	B;B;B	0.33690	0.168;0.118;0.04	T	0.10132	-1.0643	10	0.72032	D	0.01	-31.8545	9.8241	0.40901	0.0:0.8917:0.0:0.1083	.	42;68;68	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	L	68;42	ENSP00000325313:F68L;ENSP00000439243:F42L	ENSP00000325313:F68L	F	+	3	2	MAP1S	17692830	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.105000	0.31086	0.720000	0.32209	0.486000	0.48141	TTC		0.587	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
B3GNT3	10331	broad.mit.edu	37	19	17922925	17922925	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17922925C>T	ENST00000318683.6	+	3	1260	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	B3GNT3_ENST00000595387.1_Silent_p.I371I	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	371					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.I371I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						AGACACAGATCTACTGAGTCA	0.577																																					p.I371I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	19						.						27.0	25.0	26.0					19																	17922925		2137	4189	6326	17783925	SO:0001819	synonymous_variant	10331	exon3			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.1113C>T	19.37:g.17922925C>T			17783925	NM_014256	B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	CCDS12364.1																																																																																				0.577	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256	
SLC5A5	6528	broad.mit.edu	37	19	17991703	17991703	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17991703C>T	ENST00000222248.3	+	8	1346	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	333					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.F333F(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGACATCTTCGAAGATCTGC	0.597																																					p.F333F	Melanoma(65;1008 1708 7910 46650)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C999T	19						.						121.0	102.0	109.0					19																	17991703		2203	4300	6503	17852703	SO:0001819	synonymous_variant	6528	exon8				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.999C>T	19.37:g.17991703C>T			17852703	NM_000453	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																				0.597	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
SLC5A5	6528	broad.mit.edu	37	19	17999152	17999152	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:17999152C>T	ENST00000222248.3	+	13	1886	c.1539C>T	c.(1537-1539)gaC>gaT	p.D513D		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	513					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)	p.D513D(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGGAATGGACGCCAGCCGAC	0.567																																					p.D513D	Melanoma(65;1008 1708 7910 46650)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1539T	19						.						112.0	94.0	100.0					19																	17999152		2203	4300	6503	17860152	SO:0001819	synonymous_variant	6528	exon13				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1539C>T	19.37:g.17999152C>T			17860152	NM_000453	O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	CCDS12368.1																																																																																				0.567	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1		
KIAA1683	80726	broad.mit.edu	37	19	18376994	18376994	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:18376994C>A	ENST00000600328.3	-	3	1549	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	KIAA1683_ENST00000392413.4_Missense_Mutation_p.K452N|KIAA1683_ENST00000600359.3_Missense_Mutation_p.K406N			Q9H0B3	K1683_HUMAN	KIAA1683	452						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K452N(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGTGGGGTCTTTGCCATCG	0.592																																					p.K452N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1356T	19						.						66.0	70.0	69.0					19																	18376994		2203	4300	6503	18237994	SO:0001583	missense	80726	exon3			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1356G>T	19.37:g.18376994C>A	ENSP00000470780:p.Lys452Asn		18237994	NM_025249	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810503	0.50421	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.12774	2.74;2.68;2.65	4.48	2.34	0.29019	.	0.820986	0.10296	N	0.691675	T	0.13114	0.0318	L	0.47016	1.485	0.09310	N	1	P;P	0.41673	0.608;0.759	B;B	0.40565	0.142;0.333	T	0.19614	-1.0300	10	0.45353	T	0.12	-8.1874	5.9494	0.19237	0.0:0.7017:0.1937:0.1046	.	452;452	E9PDE0;Q9H0B3	.;K1683_HUMAN	N	452;452;406	ENSP00000376213:K452N;ENSP00000352774:K452N;ENSP00000404501:K406N	ENSP00000352774:K452N	K	-	3	2	KIAA1683	18237994	0.015000	0.18098	0.000000	0.03702	0.004000	0.04260	0.737000	0.26144	0.507000	0.28148	0.561000	0.74099	AAG		0.592	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
LRRC25	126364	broad.mit.edu	37	19	18507389	18507389	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:18507389C>A	ENST00000339007.3	-	1	1038	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	LRRC25_ENST00000595840.1_Missense_Mutation_p.D129Y	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	129						integral component of membrane (GO:0016021)		p.D129Y(1)		endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GAGCAGTTGTCTCGGCGGATG	0.662																																					p.D129Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385T	19						.						36.0	38.0	37.0					19																	18507389		2203	4300	6503	18368389	SO:0001583	missense	126364	exon1			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.385G>T	19.37:g.18507389C>A	ENSP00000340983:p.Asp129Tyr		18368389	NM_145256	Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797743	0.50208	.	.	ENSG00000175489	ENST00000339007	T	0.32988	1.43	3.34	1.11	0.20524	.	0.635484	0.13682	N	0.370098	T	0.33469	0.0864	L	0.46157	1.445	0.09310	N	1	D	0.61697	0.99	P	0.53912	0.737	T	0.12760	-1.0535	10	0.62326	D	0.03	-8.7144	4.3488	0.11146	0.0:0.5802:0.0:0.4198	.	129	Q8N386	LRC25_HUMAN	Y	129	ENSP00000340983:D129Y	ENSP00000340983:D129Y	D	-	1	0	LRRC25	18368389	0.007000	0.16637	0.091000	0.20842	0.214000	0.24535	-0.178000	0.09782	0.320000	0.23234	0.491000	0.48974	GAC		0.662	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256	
ELL	8178	broad.mit.edu	37	19	18556072	18556072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:18556072G>A	ENST00000262809.4	-	11	1782	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ELL_ENST00000596124.3_Nonsense_Mutation_p.R438*|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	571					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.R571*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		ATCTGCCCTCGAGTAGTCTAG	0.488			T	MLL	AL																																p.R571X			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1711T	19						.						171.0	182.0	178.0					19																	18556072		2203	4300	6503	18417072	SO:0001587	stop_gained	8178	exon11			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1711C>T	19.37:g.18556072G>A	ENSP00000262809:p.Arg571*		18417072	NM_006532		Nonsense_Mutation	SNP	ENST00000262809.4	37	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	G	39	7.631954	0.98399	.	.	ENSG00000105656	ENST00000262809	.	.	.	3.79	3.79	0.43588	.	0.143649	0.47455	U	0.000237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-7.2633	15.1944	0.73075	0.0:0.0:1.0:0.0	.	.	.	.	X	571	.	ENSP00000262809:R571X	R	-	1	2	ELL	18417072	1.000000	0.71417	0.102000	0.21198	0.901000	0.52897	5.135000	0.64777	2.133000	0.65898	0.282000	0.19409	CGA		0.488	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532	
FKBP8	23770	broad.mit.edu	37	19	18650482	18650482	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:18650482G>A	ENST00000596558.2	-	3	450	c.341C>T	c.(340-342)tCg>tTg	p.S114L	FKBP8_ENST00000222308.4_Missense_Mutation_p.S114L|FKBP8_ENST00000453489.2_Missense_Mutation_p.S143L|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000597960.3_Missense_Mutation_p.S114L|FKBP8_ENST00000608443.1_Missense_Mutation_p.S114L			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	114					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S114L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGGCGGCTCGAACCTGGCGG	0.647																																					p.S114L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	19						.						132.0	138.0	136.0					19																	18650482		2203	4300	6503	18511482	SO:0001583	missense	23770	exon3			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.341C>T	19.37:g.18650482G>A	ENSP00000472302:p.Ser114Leu		18511482	NM_012181	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		.	.	.	.	.	.	.	.	.	.	G	12.88	2.070517	0.36566	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	T;T	0.54479	0.57;0.57	3.5	3.5	0.40072	.	0.282502	0.31612	N	0.007353	T	0.57080	0.2029	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;0.985;1.0	D;P;D	0.71656	0.974;0.591;0.939	T	0.56414	-0.7983	10	0.07482	T	0.82	-11.3653	8.5826	0.33637	0.0:0.0:0.6228:0.3772	.	143;114;114	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	L	114;143	ENSP00000222308:S114L;ENSP00000388891:S143L	ENSP00000222308:S114L	S	-	2	0	FKBP8	18511482	0.997000	0.39634	0.747000	0.31113	0.030000	0.12068	2.750000	0.47500	1.786000	0.52430	0.561000	0.74099	TCG		0.647	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
UPF1	5976	broad.mit.edu	37	19	18974253	18974253	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:18974253C>T	ENST00000599848.1	+	19	2849	c.2640C>T	c.(2638-2640)ggC>ggT	p.G880G	UPF1_ENST00000262803.5_Silent_p.G869G			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	880					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G869G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCAGGTATGGCGTCATCATTG	0.587																																					p.G869G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2607T	19						.						189.0	188.0	188.0					19																	18974253		2203	4300	6503	18835253	SO:0001819	synonymous_variant	5976	exon19			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2640C>T	19.37:g.18974253C>T			18835253	NM_002911	O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37																																																																																					0.587	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
SUGP2	10147	broad.mit.edu	37	19	19135606	19135606	+	Silent	SNP	G	G	A	rs570126557		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19135606G>A	ENST00000601879.1	-	3	1848	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	SUGP2_ENST00000600377.1_Silent_p.F531F|SUGP2_ENST00000337018.6_Silent_p.F517F|SUGP2_ENST00000456085.2_Silent_p.F286F|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000452918.2_Silent_p.F517F			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	517					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F517F(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGAGTCTTCGAAGTTTGGAA	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17896	0.0		0.0	False		,,,				2504	0.0				p.F517F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1551T	19						.						106.0	108.0	107.0					19																	19135606		2203	4300	6503	18996606	SO:0001819	synonymous_variant	10147	exon3			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1551C>T	19.37:g.19135606G>A			18996606	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	CCDS12392.1																																																																																				0.522	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
SUGP2	10147	broad.mit.edu	37	19	19141819	19141819	+	Missense_Mutation	SNP	C	C	T	rs201405749	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19141819C>T	ENST00000601879.1	-	2	359	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	SUGP2_ENST00000600377.1_Missense_Mutation_p.R35Q|ARMC6_ENST00000546344.1_5'Flank|ARMC6_ENST00000535612.1_5'Flank|SUGP2_ENST00000337018.6_Missense_Mutation_p.R21Q|ARMC6_ENST00000269932.6_5'Flank|SUGP2_ENST00000456085.2_5'UTR|ARMC6_ENST00000392335.2_5'Flank|SUGP2_ENST00000598202.1_Intron|SUGP2_ENST00000452918.2_Missense_Mutation_p.R21Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	21					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R21Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CATGTGATATCGTTTGGCTTT	0.388													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21141	0.0		0.0	False		,,,				2504	0.0				p.R21Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62A	19						.						279.0	253.0	262.0					19																	19141819		2203	4300	6503	19002819	SO:0001583	missense	10147	exon2			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.62G>A	19.37:g.19141819C>T	ENSP00000472286:p.Arg21Gln		19002819	NM_014884	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	CCDS12392.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.42	3.118467	0.56505	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.17691	2.26;2.26;2.26	5.28	5.28	0.74379	.	0.344244	0.23642	N	0.046013	T	0.26810	0.0656	L	0.27053	0.805	0.80722	D	1	P;D	0.89917	0.942;1.0	P;P	0.58331	0.489;0.837	T	0.02037	-1.1225	10	0.66056	D	0.02	-0.5393	17.4684	0.87639	0.0:1.0:0.0:0.0	.	21;21	A8K5G0;Q8IX01	.;SUGP2_HUMAN	Q	21	ENSP00000337926:R21Q;ENSP00000332373:R21Q;ENSP00000389380:R21Q	ENSP00000332373:R21Q	R	-	2	0	SUGP2	19002819	0.142000	0.22610	0.006000	0.13384	0.105000	0.19272	2.880000	0.48530	2.457000	0.83068	0.650000	0.86243	CGA		0.388	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392	
TMEM161A	54929	broad.mit.edu	37	19	19232453	19232453	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19232453G>A	ENST00000162044.9	-	8	745	c.681C>T	c.(679-681)atC>atT	p.I227I	TMEM161A_ENST00000450333.2_Silent_p.I124I|TMEM161A_ENST00000587583.2_Silent_p.I202I	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	227					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			GTCCCACGCGGATAGCCAGCT	0.687																																					p.I227I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	19						.						44.0	47.0	46.0					19																	19232453		2203	4300	6503	19093453	SO:0001819	synonymous_variant	54929	exon8			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.681C>T	19.37:g.19232453G>A			19093453	NM_017814	B3KUE0|G5E9M6|Q7L2Y1	Silent	SNP	ENST00000162044.9	37	CCDS12393.1																																																																																				0.687	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814	
TM6SF2	53345	broad.mit.edu	37	19	19381886	19381886	+	Silent	SNP	G	G	A	rs371882936		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19381886G>A	ENST00000389363.4	-	2	216	c.144C>T	c.(142-144)ttC>ttT	p.F48F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	48						integral component of membrane (GO:0016021)		p.F48F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGACCGCCACGAAAAGCAGAC	0.602																																					p.F48F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144T	19						.	G		0,4138		0,0,2069	98.0	100.0	100.0		144	-6.3	0.0	19		100	1,8413		0,1,4206	no	coding-synonymous	TM6SF2	NM_001001524.2		0,1,6275	AA,AG,GG		0.0119,0.0,0.0080		48/378	19381886	1,12551	2069	4207	6276	19242886	SO:0001819	synonymous_variant	53345	exon2			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.144C>T	19.37:g.19381886G>A			19242886	NM_001001524	Q0IJ64	Silent	SNP	ENST00000389363.4	37	CCDS42528.1																																																																																				0.602	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510	
ZNF101	94039	broad.mit.edu	37	19	19788768	19788768	+	Silent	SNP	G	G	A	rs150949920	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19788768G>A	ENST00000592502.1	+	2	209	c.99G>A	c.(97-99)acG>acA	p.T33T	ZNF101_ENST00000415784.2_De_novo_Start_InFrame|ZNF101_ENST00000444249.2_Silent_p.T33T			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T33T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGATGTGACGCTGGAAACCT	0.502																																					p.T33T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G99A	19						.	G		5,4401	9.9+/-24.2	0,5,2198	112.0	110.0	110.0		99	0.2	0.3	19	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	ZNF101	NM_033204.2		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		33/437	19788768	5,13001	2203	4300	6503	19649768	SO:0001819	synonymous_variant	94039	exon2			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.99G>A	19.37:g.19788768G>A			19649768	NM_033204	C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	CCDS32971.1																																																																																				0.502	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
ZNF101	94039	broad.mit.edu	37	19	19790292	19790292	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19790292G>A	ENST00000592502.1	+	4	604	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ZNF101_ENST00000415784.2_Missense_Mutation_p.R45Q|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	165					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.R165Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ACACCAACTCGAAAGAGACCT	0.468																																					p.R165Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	19						.						96.0	99.0	98.0					19																	19790292		2203	4300	6503	19651292	SO:0001583	missense	94039	exon4			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.494G>A	19.37:g.19790292G>A	ENSP00000468049:p.Arg165Gln		19651292	NM_033204	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	3.372	-0.128248	0.06753	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.08008	3.14;3.14	0.235	-0.47	0.12131	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	0.999991	B	0.33044	0.395	B	0.18871	0.023	T	0.34725	-0.9817	9	0.72032	D	0.01	.	3.4864	0.07620	0.2367:0.2566:0.5067:0.0	.	165	Q8IZC7	ZN101_HUMAN	Q	165;165;45	ENSP00000319716:R165Q;ENSP00000400952:R45Q	ENSP00000319716:R165Q	R	+	2	0	ZNF101	19651292	0.000000	0.05858	0.110000	0.21437	0.111000	0.19643	-1.337000	0.02657	-2.173000	0.00773	-2.186000	0.00314	CGA		0.468	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
ZNF14	7561	broad.mit.edu	37	19	19822283	19822283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19822283G>A	ENST00000344099.3	-	4	1945	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	603					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.R603*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGAATTCGAACAGAACTT	0.408																																					p.R603X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1807T	19						.						74.0	73.0	73.0					19																	19822283		2203	4300	6503	19683283	SO:0001587	stop_gained	7561	exon4			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1807C>T	19.37:g.19822283G>A	ENSP00000340514:p.Arg603*		19683283	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	37	6.163952	0.97338	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.24	0.165	0.14995	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999792	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	5.2779	0.15659	0.2191:0.0:0.7809:0.0	.	.	.	.	X	603	.	ENSP00000340514:R603X	R	-	1	2	ZNF14	19683283	0.000000	0.05858	0.001000	0.08648	0.995000	0.86356	0.319000	0.19522	0.083000	0.17047	0.467000	0.42956	CGA		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF14	7561	broad.mit.edu	37	19	19822535	19822535	+	Nonsense_Mutation	SNP	G	G	A	rs146205130		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:19822535G>A	ENST00000344099.3	-	4	1693	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	519					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.R519*(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGTTCTCGAAGGGAACTT	0.408																																					p.R519X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1555T	19						.	G	stop/ARG	0,4406		0,0,2203	101.0	98.0	99.0		1555	-1.2	0.0	19	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ZNF14	NM_021030.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		519/643	19822535	1,13005	2203	4300	6503	19683535	SO:0001587	stop_gained	7561	exon4			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1555C>T	19.37:g.19822535G>A	ENSP00000340514:p.Arg519*		19683535	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837333	0.97009	0.0	1.16E-4	ENSG00000105708	ENST00000344099	.	.	.	1.8	-1.2	0.09554	.	.	.	.	.	.	.	.	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	2.6979	0.05140	0.3723:0.2562:0.3715:0.0	.	.	.	.	X	519	.	ENSP00000340514:R519X	R	-	1	2	ZNF14	19683535	0.000000	0.05858	0.001000	0.08648	0.967000	0.64934	-3.324000	0.00512	0.081000	0.16988	0.467000	0.42956	CGA		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF253	56242	broad.mit.edu	37	19	20002857	20002857	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:20002857A>C	ENST00000589717.1	+	4	893	c.801A>C	c.(799-801)cgA>cgC	p.R267R	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Silent_p.R191R	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	267				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R267R(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTCAACCGATCCACAGACC	0.418																																					p.R267R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A801C	19						.						52.0	55.0	54.0					19																	20002857		2174	4283	6457	19863857	SO:0001819	synonymous_variant	56242	exon4			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.801A>C	19.37:g.20002857A>C			19863857	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	CCDS42532.1																																																																																				0.418	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	
MKNK2	2872	broad.mit.edu	37	19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2041073G>A	ENST00000591601.1	-	11	1111	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000250896.3_Missense_Mutation_p.A359V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A359V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTTGGGCGGCACTCAGCCT	0.662																																					p.A359V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1076T	19						.						125.0	100.0	109.0					19																	2041073		2203	4300	6503	1992073	SO:0001583	missense	2872	exon12			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1076C>T	19.37:g.2041073G>A	ENSP00000467811:p.Ala359Val		1992073	NM_017572	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140434	0.77775	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.46063	0.88;0.88;0.88	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117336	0.56097	D	0.000022	T	0.52933	0.1765	L	0.38531	1.155	0.80722	D	1	D;D;P;P	0.71674	0.988;0.998;0.939;0.868	D;D;P;P	0.71414	0.951;0.973;0.779;0.859	T	0.55848	-0.8076	10	0.52906	T	0.07	-6.964	15.1499	0.72689	0.0:0.0:1.0:0.0	.	164;359;359;261	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	359;359;228;299	ENSP00000309485:A359V;ENSP00000250896:A359V;ENSP00000438904:A228V	ENSP00000250896:A359V	A	-	2	0	MKNK2	1992073	1.000000	0.71417	0.540000	0.28089	0.417000	0.31264	9.343000	0.97047	2.046000	0.60703	0.555000	0.69702	GCC		0.662	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054	
ZNF93	81931	broad.mit.edu	37	19	20044592	20044592	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:20044592G>T	ENST00000343769.5	+	4	856	c.828G>T	c.(826-828)aaG>aaT	p.K276N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K276N(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTAAACATAAGAAAATTCATA	0.358																																					p.K276N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G828T	19						.						38.0	41.0	40.0					19																	20044592		2203	4298	6501	19905592	SO:0001583	missense	81931	exon4			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.828G>T	19.37:g.20044592G>T	ENSP00000342002:p.Lys276Asn		19905592	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	11.48	1.651245	0.29336	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.07567	3.18	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15609	0.0376	L	0.48986	1.54	0.23003	N	0.998442	D	0.56035	0.974	P	0.57846	0.828	T	0.10965	-1.0607	9	0.66056	D	0.02	.	6.9971	0.24789	0.0:0.0:1.0:0.0	.	276	P35789	ZNF93_HUMAN	N	276	ENSP00000342002:K276N	ENSP00000342002:K276N	K	+	3	2	ZNF93	19905592	0.001000	0.12720	0.064000	0.19789	0.064000	0.16182	0.774000	0.26675	0.192000	0.20272	0.195000	0.17529	AAG		0.358	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF486	90649	broad.mit.edu	37	19	20308252	20308252	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:20308252A>G	ENST00000335117.8	+	4	790	c.733A>G	c.(733-735)Aaa>Gaa	p.K245E	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K239E(1)|p.K245E(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAATGTGGCAAAGTCTTTAA	0.388																																					p.K245E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A733G	19						.						36.0	39.0	38.0					19																	20308252		2147	4271	6418	20169252	SO:0001583	missense	90649	exon4			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.733A>G	19.37:g.20308252A>G	ENSP00000335042:p.Lys245Glu		20169252	NM_052852	Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	10.37	1.330175	0.24167	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.35973	1.28	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	M	0.75884	2.315	0.26580	N	0.973395	B	0.22480	0.07	B	0.31686	0.134	T	0.46456	-0.9190	9	0.87932	D	0	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	245	Q96H40	ZN486_HUMAN	E	284;245	ENSP00000335042:K245E	ENSP00000335042:K245E	K	+	1	0	ZNF486	20169252	1.000000	0.71417	0.018000	0.16275	0.018000	0.09664	3.517000	0.53443	0.166000	0.19597	0.164000	0.16699	AAA		0.388	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852	
ZNF626	199777	broad.mit.edu	37	19	20807349	20807349	+	Missense_Mutation	SNP	C	C	A	rs4809075	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:20807349C>A	ENST00000601440.1	-	4	1480	c.1334G>T	c.(1333-1335)aGa>aTa	p.R445I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	445					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.R445I(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTCTCCTATGTGT	0.378													c|||	3	0.000599042	0.0	0.0	5008	,	,		13761	0.002		0.001	False		,,,				2504	0.0				p.R445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334T	19						.						64.0	57.0	59.0					19																	20807349		2109	4256	6365	20599189	SO:0001583	missense	199777	exon4			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1334G>T	19.37:g.20807349C>A	ENSP00000469958:p.Arg445Ile		20599189	NM_001076675	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.011	-1.710491	0.00712	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41534	0.1163	L	0.43598	1.365	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.32322	-0.9911	8	0.32370	T	0.25	.	4.2599	0.10735	0.215:0.5842:0.0:0.2008	rs4809075	445	Q68DY1	ZN626_HUMAN	I	445;369;445	.	ENSP00000445201:R445I	R	-	2	0	ZNF626	20599189	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.114000	0.10757	-3.249000	0.00205	-3.357000	0.00042	AGA		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF85	7639	broad.mit.edu	37	19	21132661	21132661	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21132661T>G	ENST00000328178.8	+	4	1454	c.1341T>G	c.(1339-1341)atT>atG	p.I447M	ZNF85_ENST00000601023.1_Missense_Mutation_p.I388M|ZNF85_ENST00000345030.6_Missense_Mutation_p.I414M	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	447					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.I447M(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ATAAGAAAATTCATACTGGAG	0.323																																					p.I447M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1341G	19						.						20.0	22.0	22.0					19																	21132661		2197	4287	6484	20924501	SO:0001583	missense	7639	exon4			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1341T>G	19.37:g.21132661T>G	ENSP00000329793:p.Ile447Met		20924501	NM_003429	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	3.852	-0.031637	0.07543	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07800	3.16;3.16	1.35	0.13	0.14746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.31371	0.925	0.80722	D	1	D;D;D	0.89917	0.999;0.991;1.0	D;D;D	0.91635	0.978;0.986;0.999	T	0.36456	-0.9747	9	0.72032	D	0.01	.	1.8702	0.03207	0.2747:0.347:0.0:0.3783	.	414;388;447	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	M	447;414;322	ENSP00000329793:I447M;ENSP00000342340:I414M	ENSP00000329793:I447M	I	+	3	3	ZNF85	20924501	0.014000	0.17966	0.026000	0.17262	0.031000	0.12232	-0.312000	0.08113	-0.289000	0.09038	-0.728000	0.03583	ATT		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
ZNF430	80264	broad.mit.edu	37	19	21240265	21240265	+	Missense_Mutation	SNP	G	G	A	rs199515644	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21240265G>A	ENST00000261560.5	+	5	1332	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	384					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R384Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTTTTTACCGATTCTCATAC	0.368													.|||	2	0.000399361	0.0015	0.0	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0				p.R383Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1148A	19						.						30.0	34.0	32.0					19																	21240265		2190	4289	6479	21032105	SO:0001583	missense	80264	exon5			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1151G>A	19.37:g.21240265G>A	ENSP00000261560:p.Arg384Gln		21032105	NM_001172671	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.386331	0.00202	.	.	ENSG00000118620	ENST00000261560	T	0.35421	1.31	1.05	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09335	0.0230	N	0.05608	-0.01	0.09310	N	1	D;B	0.59767	0.986;0.146	B;B	0.31290	0.127;0.007	T	0.30268	-0.9984	9	0.02654	T	1	.	5.9345	0.19158	0.309:0.0:0.691:0.0	.	383;384	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	384	ENSP00000261560:R384Q	ENSP00000261560:R384Q	R	+	2	0	ZNF430	21032105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.205000	0.00274	-0.657000	0.05373	-0.672000	0.03802	CGA		0.368	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
ZNF714	148206	broad.mit.edu	37	19	21300700	21300700	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21300700C>A	ENST00000596143.1	+	5	1555	c.1230C>A	c.(1228-1230)aaC>aaA	p.N410K	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	410					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.N410K(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATCCTCAAACCTTACCAAAC	0.343																																					p.N410K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1230A	19						.																																			21092540	SO:0001583	missense	148206	exon5			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1230C>A	19.37:g.21300700C>A	ENSP00000472368:p.Asn410Lys		21092540	NM_182515	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.754315	0.00663	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17109	0.0411	N	0.25890	0.77	0.09310	N	1	B;P;P	0.44309	0.059;0.677;0.832	B;B;B	0.41946	0.02;0.157;0.371	T	0.10042	-1.0647	8	0.10902	T	0.67	.	4.5619	0.12165	0.0:0.7647:0.0:0.2353	.	411;410;411	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	K	410	.	ENSP00000291770:N410K	N	+	3	2	ZNF714	21092540	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.694000	0.01915	0.459000	0.27016	0.462000	0.41574	AAC		0.343	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF431	170959	broad.mit.edu	37	19	21349173	21349173	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21349173C>A	ENST00000311048.7	+	3	276	c.132C>A	c.(130-132)ttC>ttA	p.F44L	ZNF431_ENST00000600692.1_Missense_Mutation_p.F44L|ZNF431_ENST00000599296.1_Missense_Mutation_p.F44L|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.F44L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CCATAGAATTCTCTCTGGAGG	0.398																																					p.F44L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C132A	19						.						93.0	100.0	98.0					19																	21349173		2203	4300	6503	21141013	SO:0001583	missense	170959	exon3			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.132C>A	19.37:g.21349173C>A	ENSP00000308578:p.Phe44Leu		21141013	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	10.14	1.269083	0.23221	.	.	ENSG00000196705	ENST00000311048	T	0.12879	2.64	0.659	0.659	0.17861	Krueppel-associated box (4);	.	.	.	.	T	0.36082	0.0954	M	0.92738	3.34	0.19775	N	0.999953	P	0.46784	0.884	P	0.55011	0.766	T	0.12091	-1.0561	8	0.62326	D	0.03	.	.	.	.	.	44	Q8TF32	ZN431_HUMAN	L	44	ENSP00000308578:F44L	ENSP00000308578:F44L	F	+	3	2	ZNF431	21141013	0.569000	0.26643	0.420000	0.26596	0.177000	0.22998	0.848000	0.27710	0.608000	0.30000	0.455000	0.32223	TTC		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF431	170959	broad.mit.edu	37	19	21366533	21366533	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21366533G>T	ENST00000311048.7	+	5	1571	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	476					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.R476I(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ACACATAAGAGAATTCACACT	0.363																																					p.R476I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427T	19						.						38.0	42.0	41.0					19																	21366533		2186	4287	6473	21158373	SO:0001583	missense	170959	exon5			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1427G>T	19.37:g.21366533G>T	ENSP00000308578:p.Arg476Ile		21158373	NM_133473	A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	4.277	0.050514	0.08243	.	.	ENSG00000196705	ENST00000311048	T	0.24908	1.83	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21307	0.0513	L	0.48986	1.54	0.49299	D	0.999778	B	0.13145	0.007	B	0.14023	0.01	T	0.05566	-1.0877	9	0.34782	T	0.22	.	8.892	0.35439	0.0:0.0:1.0:0.0	.	476	Q8TF32	ZN431_HUMAN	I	476	ENSP00000308578:R476I	ENSP00000308578:R476I	R	+	2	0	ZNF431	21158373	0.000000	0.05858	0.263000	0.24496	0.246000	0.25737	-7.792000	0.00030	0.452000	0.26830	0.455000	0.32223	AGA		0.363	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF708	7562	broad.mit.edu	37	19	21477463	21477463	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21477463C>T	ENST00000356929.3	-	4	502	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	38					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.R102K(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTTTCCATATCTTCTCAGTAT	0.373																																					p.R102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	19						.						102.0	97.0	99.0					19																	21477463		2203	4300	6503	21269303	SO:0001583	missense	7562	exon4			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.305G>A	19.37:g.21477463C>T	ENSP00000349401:p.Arg102Lys		21269303	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	4.934	0.173513	0.09391	.	.	ENSG00000182141	ENST00000356929	T	0.06294	3.32	0.449	0.449	0.16619	.	.	.	.	.	T	0.04952	0.0133	L	0.35341	1.055	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.42716	-0.9435	8	0.25751	T	0.34	.	.	.	.	.	102	P17019	ZN708_HUMAN	K	102	ENSP00000349401:R102K	ENSP00000349401:R102K	R	-	2	0	ZNF708	21269303	0.000000	0.05858	0.045000	0.18777	0.043000	0.13939	-0.122000	0.10627	0.475000	0.27415	0.478000	0.44815	AGA		0.373	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF493	284443	broad.mit.edu	37	19	21606093	21606093	+	Missense_Mutation	SNP	G	G	A	rs145782852	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21606093G>A	ENST00000355504.4	+	2	514	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	ZNF493_ENST00000392288.2_Missense_Mutation_p.R211Q|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R83Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCTTACCGATGTGAAGAA	0.353													.|||	2	0.000399361	0.0	0.0	5008	,	,		18444	0.0		0.0	False		,,,				2504	0.002				p.R83Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	19						.	G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	53.0	59.0	57.0		632,248	-0.5	0.1	19	dbSNP_134	57	7,8587		0,7,4290	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	43,43	0,7,6491	AA,AG,GG		0.0815,0.0,0.0539	benign,benign	211/775,83/647	21606093	7,12989	2201	4297	6498	21397933	SO:0001583	missense	284443	exon2			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.248G>A	19.37:g.21606093G>A	ENSP00000347691:p.Arg83Gln		21397933	NM_175910	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	6.628	0.484340	0.12641	0.0	8.15E-4	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.36878	1.23;1.23	1.05	-0.455	0.12193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	N	0.01188	-0.97	0.09310	N	1	B;B	0.23891	0.014;0.093	B;B	0.12156	0.007;0.005	T	0.21075	-1.0256	9	0.31617	T	0.26	.	2.6681	0.05058	0.5302:0.2697:0.2:0.0	.	83;211	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Q	211;83	ENSP00000376110:R211Q;ENSP00000347691:R83Q	ENSP00000347691:R83Q	R	+	2	0	ZNF493	21397933	0.012000	0.17670	0.068000	0.19968	0.067000	0.16453	0.061000	0.14366	-0.488000	0.06726	-0.501000	0.04562	CGA		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	broad.mit.edu	37	19	21607573	21607573	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21607573G>T	ENST00000355504.4	+	2	1994	c.1728G>T	c.(1726-1728)aaG>aaT	p.K576N	ZNF493_ENST00000392288.2_Missense_Mutation_p.K704N|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K576N(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATACGCATAAGATAATTCATA	0.338																																					p.K576N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1728T	19						.						32.0	34.0	34.0					19																	21607573		2201	4299	6500	21399413	SO:0001583	missense	284443	exon2			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1728G>T	19.37:g.21607573G>T	ENSP00000347691:p.Lys576Asn		21399413	NM_175910	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.71	1.718329	0.30503	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.18657	2.2;2.2	1.02	-0.84	0.10755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18299	0.0439	L	0.49640	1.575	0.58432	D	0.999991	P;P	0.42039	0.769;0.722	B;B	0.42214	0.38;0.33	T	0.06991	-1.0796	9	0.72032	D	0.01	.	5.3138	0.15845	0.4001:0.0:0.5999:0.0	.	576;704	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	N	704;576	ENSP00000376110:K704N;ENSP00000347691:K576N	ENSP00000347691:K576N	K	+	3	2	ZNF493	21399413	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.334000	0.19787	-0.408000	0.07565	-0.396000	0.06452	AAG		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF429	353088	broad.mit.edu	37	19	21719238	21719238	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21719238G>T	ENST00000358491.4	+	4	591	c.383G>T	c.(382-384)gGa>gTa	p.G128V	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	128					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.G128V(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTATACAAAGGAGGTTATAAT	0.328																																					p.G128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383T	19						.						71.0	76.0	74.0					19																	21719238		2148	4265	6413	21511078	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.383G>T	19.37:g.21719238G>T	ENSP00000351280:p.Gly128Val		21511078	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.459	-0.890046	0.02511	.	.	ENSG00000197013	ENST00000358491	T	0.06371	3.31	0.614	-0.595	0.11660	.	.	.	.	.	T	0.06600	0.0169	M	0.71036	2.16	0.09310	N	0.999999	B	0.11235	0.004	B	0.08055	0.003	T	0.47328	-0.9126	9	0.13108	T	0.6	.	3.6947	0.08360	0.6282:0.0:0.3718:0.0	.	128	Q86V71	ZN429_HUMAN	V	128	ENSP00000351280:G128V	ENSP00000351280:G128V	G	+	2	0	ZNF429	21511078	0.000000	0.05858	0.018000	0.16275	0.028000	0.11728	-2.283000	0.01155	-0.242000	0.09667	0.298000	0.19748	GGA		0.328	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF429	353088	broad.mit.edu	37	19	21720012	21720012	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21720012G>A	ENST00000358491.4	+	4	1365	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	386					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.R386Q(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AGACTTACTCGACATAAAAAA	0.353																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	19						.						40.0	46.0	44.0					19																	21720012		2022	4220	6242	21511852	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1157G>A	19.37:g.21720012G>A	ENSP00000351280:p.Arg386Gln		21511852	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.556	-0.847124	0.02651	.	.	ENSG00000197013	ENST00000358491	T	0.26223	1.75	0.185	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.16478	0.41	0.09310	N	1	B	0.25105	0.118	B	0.13407	0.009	T	0.34625	-0.9821	9	0.07482	T	0.82	.	4.7056	0.12848	0.0:0.0:0.64:0.3599	.	386	Q86V71	ZN429_HUMAN	Q	386	ENSP00000351280:R386Q	ENSP00000351280:R386Q	R	+	2	0	ZNF429	21511852	0.000000	0.05858	0.099000	0.21106	0.100000	0.18952	-10.014000	0.00008	0.293000	0.22520	0.298000	0.19748	CGA		0.353	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF43	7594	broad.mit.edu	37	19	21991570	21991570	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:21991570C>A	ENST00000354959.4	-	4	1438	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	ZNF43_ENST00000595461.1_Missense_Mutation_p.E417D|ZNF43_ENST00000598381.1_Missense_Mutation_p.E417D|ZNF43_ENST00000594012.1_Missense_Mutation_p.E417D	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E423D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGTAGGGTTTCTCTCCAGTAT	0.378																																					p.E423D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1269T	19						.						64.0	68.0	67.0					19																	21991570		2191	4291	6482	21783410	SO:0001583	missense	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1269G>T	19.37:g.21991570C>A	ENSP00000347045:p.Glu423Asp		21783410	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745200	0.49151	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.26810	1.71	1.75	0.656	0.17844	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20007	0.0481	L	0.35644	1.08	0.26934	N	0.966396	B	0.12013	0.005	B	0.24541	0.054	T	0.30119	-0.9989	9	0.72032	D	0.01	.	7.4601	0.27289	0.0:0.8305:0.0:0.1695	.	423	P17038	ZNF43_HUMAN	D	422;423	ENSP00000347045:E423D	ENSP00000347045:E423D	E	-	3	2	ZNF43	21783410	0.023000	0.18921	0.013000	0.15412	0.090000	0.18270	0.185000	0.16958	0.972000	0.38314	0.298000	0.19748	GAG		0.378	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF208	7757	broad.mit.edu	37	19	22154422	22154422	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22154422C>A	ENST00000397126.4	-	4	3562	c.3414G>T	c.(3412-3414)gaG>gaT	p.E1138D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1010D(2)|p.E1138D(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGTTTCTCTCCAGTAT	0.368																																					p.E1138D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3414T	19						.						40.0	43.0	42.0					19																	22154422		2071	4203	6274	21946262	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3414G>T	19.37:g.22154422C>A	ENSP00000380315:p.Glu1138Asp		21946262	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043474	0.19748	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26810	1.71	2.59	-1.48	0.08745	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17577	0.0422	.	.	.	0.21220	N	0.999752	B	0.16166	0.016	B	0.18871	0.023	T	0.25398	-1.0133	8	0.87932	D	0	.	5.0041	0.14279	0.0:0.6162:0.1689:0.2149	.	1010	O43345	ZN208_HUMAN	D	1138;1010	ENSP00000380315:E1138D	ENSP00000380315:E1138D	E	-	3	2	ZNF208	21946262	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.054000	0.11826	-0.834000	0.04239	-1.012000	0.02466	GAG		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22155026	22155026	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22155026T>C	ENST00000397126.4	-	4	2958	c.2810A>G	c.(2809-2811)aAa>aGa	p.K937R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	937					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K837R(2)|p.K937R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCATGAGTTTTCTTATGTTT	0.373																																					p.K937R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A2810G	19						.						47.0	49.0	48.0					19																	22155026		2022	4198	6220	21946866	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2810A>G	19.37:g.22155026T>C	ENSP00000380315:p.Lys937Arg		21946866	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.380034	0.01204	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17213	2.29	2.84	-5.68	0.02436	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.30401	0.115	T	0.34700	-0.9818	8	0.02654	T	1	.	1.7673	0.03004	0.1303:0.433:0.1296:0.3071	.	837	O43345	ZN208_HUMAN	R	937;837	ENSP00000380315:K937R	ENSP00000380315:K937R	K	-	2	0	ZNF208	21946866	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-5.802000	0.00097	-1.451000	0.01933	0.102000	0.15555	AAA		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22155357	22155357	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22155357G>T	ENST00000397126.4	-	4	2627	c.2479C>A	c.(2479-2481)Cat>Aat	p.H827N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	827					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H727N(2)|p.H827N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGCATGAATTGCCTTA	0.363																																					p.H827N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2479A	19						.						64.0	70.0	68.0					19																	22155357		2089	4251	6340	21947197	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2479C>A	19.37:g.22155357G>T	ENSP00000380315:p.His827Asn		21947197	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829434	0.32329	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67345	-0.26	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80210	0.4581	.	.	.	0.34988	D	0.754744	D	0.64830	0.994	D	0.87578	0.998	D	0.85824	0.1387	8	0.87932	D	0	.	11.941	0.52901	0.0:0.0:1.0:0.0	.	727	O43345	ZN208_HUMAN	N	827;727	ENSP00000380315:H827N	ENSP00000380315:H827N	H	-	1	0	ZNF208	21947197	1.000000	0.71417	0.328000	0.25416	0.102000	0.19082	5.134000	0.64770	1.024000	0.39682	0.289000	0.19496	CAT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22155626	22155626	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22155626G>T	ENST00000397126.4	-	4	2358	c.2210C>A	c.(2209-2211)aCt>aAt	p.T737N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	737					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T637N(2)|p.T737N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTATGTTTAGTAAGGACTGA	0.368																																					p.T737N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2210A	19						.						53.0	57.0	56.0					19																	22155626		2101	4244	6345	21947466	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2210C>A	19.37:g.22155626G>T	ENSP00000380315:p.Thr737Asn		21947466	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	3.822	-0.037510	0.07497	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35973	1.28	2.13	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40862	0.1134	.	.	.	0.09310	N	1	D	0.61080	0.989	D	0.69307	0.963	T	0.39820	-0.9595	8	0.15952	T	0.53	.	6.5937	0.22661	0.686:0.0:0.314:0.0	.	637	O43345	ZN208_HUMAN	N	737;637	ENSP00000380315:T737N	ENSP00000380315:T737N	T	-	2	0	ZNF208	21947466	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-4.383000	0.00243	-0.074000	0.12820	0.280000	0.19369	ACT		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22155721	22155721	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22155721G>T	ENST00000397126.4	-	4	2263	c.2115C>A	c.(2113-2115)tcC>tcA	p.S705S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	705					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S605S(2)|p.S705S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.368																																					p.S705S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2115A	19						.						36.0	38.0	37.0					19																	22155721		2008	4197	6205	21947561	SO:0001819	synonymous_variant	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2115C>A	19.37:g.22155721G>T			21947561	NM_007153		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22157217	22157217	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22157217C>T	ENST00000397126.4	-	4	767	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G207S(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGCTTTGCCACCTTCTTCA	0.363																																					p.G207S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G619A	19						.						61.0	65.0	63.0					19																	22157217		2036	4217	6253	21949057	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.619G>A	19.37:g.22157217C>T	ENSP00000380315:p.Gly207Ser		21949057	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980062	0.53827	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.21734	1.99	2.75	2.75	0.32379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41673	0.1169	.	.	.	0.25960	N	0.982638	D	0.89917	1.0	D	0.79784	0.993	T	0.11036	-1.0604	8	0.54805	T	0.06	.	10.3396	0.43870	0.0:1.0:0.0:0.0	.	207	O43345	ZN208_HUMAN	S	207	ENSP00000380315:G207S	ENSP00000380315:G207S	G	-	1	0	ZNF208	21949057	0.176000	0.23096	0.008000	0.14137	0.028000	0.11728	2.392000	0.44433	1.079000	0.41038	0.306000	0.20318	GGC		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF257	113835	broad.mit.edu	37	19	22271314	22271314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22271314G>T	ENST00000594947.1	+	4	906	c.762G>T	c.(760-762)gaG>gaT	p.E254D		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E254D(2)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTAGAGAGAAACCCTACA	0.388																																					p.E254D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G762T	19						.						38.0	41.0	40.0					19																	22271314		2115	4259	6374	22063154	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.762G>T	19.37:g.22271314G>T	ENSP00000470209:p.Glu254Asp		22063154	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240801	0.22711	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46795	0.1411	M	0.76170	2.325	0.25674	N	0.985869	B	0.16166	0.016	B	0.20955	0.032	T	0.47611	-0.9104	8	0.52906	T	0.07	.	9.0461	0.36347	0.0:0.0:1.0:0.0	.	254	Q9Y2Q1	ZN257_HUMAN	D	254;226	.	ENSP00000380312:E226D	E	+	3	2	ZNF257	22063154	0.790000	0.28787	0.015000	0.15790	0.084000	0.17831	0.442000	0.21628	0.518000	0.28383	0.313000	0.20887	GAG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22271382	22271382	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22271382G>T	ENST00000594947.1	+	4	974	c.830G>T	c.(829-831)aGa>aTa	p.R277I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R277I(2)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAACATAAGAGAATTCATAAT	0.373																																					p.R277I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G830T	19						.						41.0	44.0	43.0					19																	22271382		2017	4213	6230	22063222	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.830G>T	19.37:g.22271382G>T	ENSP00000470209:p.Arg277Ile		22063222	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.099	-1.155089	0.01700	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.278	0.12894	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47525	0.1450	M	0.66560	2.04	0.41106	D	0.9857	B	0.06786	0.001	B	0.08055	0.003	T	0.25779	-1.0122	8	0.25751	T	0.34	.	4.8235	0.13405	0.1584:0.0:0.6321:0.2095	.	277	Q9Y2Q1	ZN257_HUMAN	I	277;249	.	ENSP00000380312:R249I	R	+	2	0	ZNF257	22063222	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.138000	0.03216	-2.025000	0.00935	-2.281000	0.00270	AGA		0.373	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22271517	22271517	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22271517G>A	ENST00000594947.1	+	4	1109	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G322D(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGAGTGTGGCAAAGCCTTT	0.433																																					p.G322D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	19						.						53.0	57.0	56.0					19																	22271517		2172	4290	6462	22063357	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.965G>A	19.37:g.22271517G>A	ENSP00000470209:p.Gly322Asp		22063357	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292409	0.40594	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25865	0.0630	L	0.48174	1.505	0.28825	N	0.897499	P	0.50156	0.932	B	0.40659	0.336	T	0.23904	-1.0175	8	0.59425	D	0.04	.	4.8081	0.13329	0.1849:0.2198:0.5953:0.0	.	322	Q9Y2Q1	ZN257_HUMAN	D	322;294	.	ENSP00000380312:G294D	G	+	2	0	ZNF257	22063357	0.796000	0.28864	0.014000	0.15608	0.011000	0.07611	0.450000	0.21762	-0.307000	0.08804	0.313000	0.20887	GGC		0.433	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22272156	22272156	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22272156G>T	ENST00000594947.1	+	4	1748	c.1604G>T	c.(1603-1605)aGa>aTa	p.R535I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R535I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTACATAAGAGAATTCATGCT	0.363																																					p.R535I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1604T	19						.						30.0	33.0	32.0					19																	22272156		2117	4259	6376	22063996	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1604G>T	19.37:g.22272156G>T	ENSP00000470209:p.Arg535Ile		22063996	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	5.292	0.239288	0.10023	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40473	0.1118	L	0.33485	1.01	0.41315	D	0.987139	B	0.11235	0.004	B	0.12156	0.007	T	0.16867	-1.0388	8	0.32370	T	0.25	.	6.0631	0.19848	0.0:0.0:0.6989:0.301	.	535	Q9Y2Q1	ZN257_HUMAN	I	535;507	.	ENSP00000380312:R507I	R	+	2	0	ZNF257	22063996	0.000000	0.05858	0.045000	0.18777	0.076000	0.17211	-0.412000	0.07132	0.518000	0.28383	0.313000	0.20887	AGA		0.363	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF676	163223	broad.mit.edu	37	19	22363078	22363078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22363078C>A	ENST00000397121.2	-	3	1758	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	481					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.E481*(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.393																																					p.E481X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1441T	19						.						94.0	100.0	98.0					19																	22363078		2164	4274	6438	22154918	SO:0001587	stop_gained	163223	exon3			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1441G>T	19.37:g.22363078C>A	ENSP00000380310:p.Glu481*		22154918	NM_001001411	A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.344025	0.82022	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.3206	0.26526	0.0:0.7253:0.2747:0.0	.	.	.	.	X	481	.	ENSP00000380310:E481X	E	-	1	0	ZNF676	22154918	0.000000	0.05858	0.073000	0.20177	0.073000	0.16967	-0.958000	0.03857	0.181000	0.19994	0.184000	0.17185	GAA		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF98	148198	broad.mit.edu	37	19	22574543	22574543	+	Silent	SNP	A	A	C	rs74169607		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22574543A>C	ENST00000357774.5	-	4	1615	c.1494T>G	c.(1492-1494)gcT>gcG	p.A498A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A498A(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACTGGTTAAAAGCTTTGCCAC	0.398																																					p.A498A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1494G	19						.						73.0	65.0	68.0					19																	22574543		2187	4283	6470	22366383	SO:0001819	synonymous_variant	148198	exon4				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1494T>G	19.37:g.22574543A>C			22366383	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																				0.398	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF98	148198	broad.mit.edu	37	19	22585636	22585636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22585636C>A	ENST00000357774.5	-	3	329	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	ZNF98_ENST00000601553.1_Nonsense_Mutation_p.E70*	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E70*(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCCAAGGTTCTTTTCCTTGC	0.423																																					p.E70X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G208T	19						.						108.0	116.0	113.0					19																	22585636		2198	4300	6498	22377476	SO:0001587	stop_gained	148198	exon3				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.208G>T	19.37:g.22585636C>A	ENSP00000350418:p.Glu70*		22377476	NM_001098626		Nonsense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.143714	0.77888	.	.	ENSG00000197360	ENST00000357774	.	.	.	0.476	-0.698	0.11280	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	.	.	.	.	.	.	.	X	70	.	ENSP00000350418:E70X	E	-	1	0	ZNF98	22377476	0.000000	0.05858	0.044000	0.18714	0.873000	0.50193	-0.926000	0.03988	-0.295000	0.08960	0.298000	0.19748	GAA		0.423	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF98	148198	broad.mit.edu	37	19	22586279	22586279	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22586279G>A	ENST00000357774.5	-	2	187	c.66C>T	c.(64-66)ttC>ttT	p.F22F	ZNF98_ENST00000601553.1_Silent_p.F22F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F22F(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTCCAGAGAGAATTCTAAGG	0.403																																					p.F22F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C66T	19						.						94.0	100.0	98.0					19																	22586279		2203	4298	6501	22378119	SO:0001819	synonymous_variant	148198	exon2				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.66C>T	19.37:g.22586279G>A			22378119	NM_001098626		Silent	SNP	ENST00000357774.5	37	CCDS46031.1																																																																																				0.403	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF492	57615	broad.mit.edu	37	19	22847557	22847557	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22847557G>T	ENST00000456783.2	+	4	1330	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	362					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.E362D(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATGCTGGAGAGAAATTCTACA	0.393																																					p.E362D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1086T	19						.						6.0	6.0	6.0					19																	22847557		1776	3957	5733	22639397	SO:0001583	missense	57615	exon4			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1086G>T	19.37:g.22847557G>T	ENSP00000413660:p.Glu362Asp		22639397	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.01	2.408655	0.42715	.	.	ENSG00000229676	ENST00000456783	T	0.26810	1.71	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32466	0.0830	L	0.41710	1.295	0.27928	N	0.937977	P	0.50156	0.932	P	0.57502	0.822	T	0.14364	-1.0475	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	362	Q9P255	ZN492_HUMAN	D	362	ENSP00000413660:E362D	ENSP00000413660:E362D	E	+	3	2	ZNF492	22639397	0.007000	0.16637	0.113000	0.21522	0.113000	0.19764	0.010000	0.13242	0.269000	0.21961	0.274000	0.19336	GAG		0.393	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF492	57615	broad.mit.edu	37	19	22847945	22847945	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22847945C>T	ENST00000456783.2	+	4	1718	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	492					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.L492F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTCCTCTATTCTTAACAGACA	0.363																																					p.L492F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T	19						.						15.0	21.0	19.0					19																	22847945		1883	4144	6027	22639785	SO:0001583	missense	57615	exon4			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1474C>T	19.37:g.22847945C>T	ENSP00000413660:p.Leu492Phe		22639785	NM_020855	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	4.648	0.120378	0.08881	.	.	ENSG00000229676	ENST00000456783	T	0.13657	2.57	1.06	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	L	0.53249	1.67	0.09310	N	1	P	0.35155	0.487	B	0.39094	0.29	T	0.18808	-1.0325	9	0.56958	D	0.05	.	7.2565	0.26179	0.0:1.0:0.0:0.0	.	492	Q9P255	ZN492_HUMAN	F	492	ENSP00000413660:L492F	ENSP00000413660:L492F	L	+	1	0	ZNF492	22639785	0.004000	0.15560	0.682000	0.30024	0.702000	0.40608	0.147000	0.16202	0.149000	0.19098	0.152000	0.16155	CTT		0.363	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
ZNF99	7652	broad.mit.edu	37	19	22939057	22939057	+	IGR	SNP	G	G	T	rs537379931	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22939057G>T	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.L1022I|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1022I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGGCTGAAAGATGGTTAAAA	0.363																																					p.L1021I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3061A	19						.						52.0	73.0	66.0					19																	22939057		2001	4274	6275	22730897	SO:0001628	intergenic_variant	7652	exon8			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939057G>T			22730897	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.547995	0.00926	.	.	ENSG00000213973	ENST00000397104	T	0.52754	0.65	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.28385	0.089	T	0.27434	-1.0074	8	0.22706	T	0.39	.	3.5182	0.07732	0.1966:0.0:0.3963:0.4071	.	1021	A8MXY4	ZNF99_HUMAN	I	1022	ENSP00000380293:L1022I	ENSP00000380293:L1022I	L	-	1	0	ZNF99	22730897	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.571000	0.05889	-1.468000	0.01892	-0.606000	0.04082	CTT		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22942226	22942226	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22942226C>A	ENST00000596209.1	-	4	575	c.485G>T	c.(484-486)aGa>aTa	p.R162I	ZNF99_ENST00000397104.3_Missense_Mutation_p.R183I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	162					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.R183I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AATCTTATATCTATTTGAATT	0.264																																					p.R183I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548T	19						.						28.0	27.0	27.0					19																	22942226		1847	4084	5931	22734066	SO:0001583	missense	7652	exon4			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.485G>T	19.37:g.22942226C>A	ENSP00000472969:p.Arg162Ile		22734066	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	4.165	0.029047	0.08054	.	.	ENSG00000213973	ENST00000397104	T	0.26223	1.75	1.78	-3.56	0.04626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	L	0.45228	1.405	0.09310	N	1	P	0.41080	0.737	B	0.39771	0.309	T	0.07888	-1.0749	9	0.28530	T	0.3	.	1.486	0.02447	0.1892:0.406:0.2424:0.1623	.	183	A8MXY4	ZNF99_HUMAN	I	183	ENSP00000380293:R183I	ENSP00000380293:R183I	R	-	2	0	ZNF99	22734066	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.022000	0.12480	-1.431000	0.01982	0.395000	0.25975	AGA		0.264	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF99	7652	broad.mit.edu	37	19	22942370	22942370	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:22942370C>A	ENST00000596209.1	-	4	431	c.341G>T	c.(340-342)aGa>aTa	p.R114I	ZNF99_ENST00000397104.3_Missense_Mutation_p.R135I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	114					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.R135I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACAATCTTTTCTTAATCGTAA	0.333																																					p.R135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404T	19						.						108.0	100.0	102.0					19																	22942370		1842	4096	5938	22734210	SO:0001583	missense	7652	exon4			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.341G>T	19.37:g.22942370C>A	ENSP00000472969:p.Arg114Ile		22734210	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	2.913	-0.224954	0.06022	.	.	ENSG00000213973	ENST00000397104	T	0.06768	3.26	0.257	-0.514	0.11958	.	.	.	.	.	T	0.10423	0.0255	M	0.78456	2.415	0.09310	N	1	B	0.30211	0.273	B	0.32677	0.15	T	0.31779	-0.9931	9	0.42905	T	0.14	.	2.1933	0.03905	0.3262:0.3462:0.3275:0.0	.	135	A8MXY4	ZNF99_HUMAN	I	135	ENSP00000380293:R135I	ENSP00000380293:R135I	R	-	2	0	ZNF99	22734210	0.001000	0.12720	0.066000	0.19879	0.060000	0.15804	-0.265000	0.08644	-0.860000	0.04099	-0.882000	0.02950	AGA		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF91	7644	broad.mit.edu	37	19	23543125	23543125	+	Nonsense_Mutation	SNP	C	C	A	rs370365358		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:23543125C>A	ENST00000300619.7	-	4	2861	c.2656G>T	c.(2656-2658)Gaa>Taa	p.E886*	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E854*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	886					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E886*(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGTCACATTCTTCACTCTTG	0.353																																					p.E886X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2656T	19						.						75.0	82.0	79.0					19																	23543125		2169	4292	6461	23334965	SO:0001587	stop_gained	7644	exon4			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2656G>T	19.37:g.23543125C>A	ENSP00000300619:p.Glu886*		23334965	NM_003430	A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874267	0.72180	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.53	-3.05	0.05396	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.2649	0.43449	0.0:0.4645:0.5355:0.0	.	.	.	.	X	886;854	.	ENSP00000300619:E886X	E	-	1	0	ZNF91	23334965	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.250000	0.01187	-0.865000	0.04073	0.205000	0.17691	GAA		0.353	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF91	7644	broad.mit.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	A	rs374821944	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:23544756C>A	ENST00000300619.7	-	4	1230	c.1025G>T	c.(1024-1026)aGa>aTa	p.R342I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	342					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373													C|||	4	0.000798722	0.0	0.0	5008	,	,		19898	0.0		0.0	False		,,,				2504	0.0041				p.R342I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1025T	19						.	C	ILE/ARG	0,4132		0,0,2066	58.0	61.0	60.0		1025	1.0	0.0	19		60	1,8461		0,1,4230	no	missense	ZNF91	NM_003430.2	97	0,1,6296	AA,AC,CC		0.0118,0.0,0.0079	probably-damaging	342/1192	23544756	1,12593	2066	4231	6297	23336596	SO:0001583	missense	7644	exon4			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1025G>T	19.37:g.23544756C>A	ENSP00000300619:p.Arg342Ile		23336596	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581142	0.28180	0.0	1.18E-4	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24908	1.83;1.83	2.15	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34221	0.0890	L	0.41492	1.28	0.09310	N	1	B;D	0.67145	0.413;0.996	B;D	0.66847	0.109;0.947	T	0.11060	-1.0603	9	0.51188	T	0.08	.	5.9371	0.19171	0.0:0.6965:0.0:0.3035	.	310;342	Q05481-2;Q05481	.;ZNF91_HUMAN	I	342;310	ENSP00000300619:R342I;ENSP00000380272:R310I	ENSP00000300619:R342I	R	-	2	0	ZNF91	23336596	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-2.511000	0.00958	0.232000	0.21100	0.162000	0.16502	AGA		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF254	9534	broad.mit.edu	37	19	24289408	24289408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:24289408G>A	ENST00000357002.4	+	3	331	c.216G>A	c.(214-216)tgG>tgA	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W72*(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGAGCCCTGGAATATGAAGC	0.423																																					p.W72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G216A	19						.						130.0	140.0	136.0					19																	24289408		1511	2709	4220	24081248	SO:0001587	stop_gained	9534	exon3			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.216G>A	19.37:g.24289408G>A	ENSP00000349494:p.Trp72*		24081248	NM_203282	A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.194	0.796586	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	3	0	ZNF254	24081248	0.116000	0.22171	0.058000	0.19502	0.059000	0.15707	0.956000	0.29202	0.300000	0.22699	0.305000	0.20034	TGG		0.423	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
MIER2	54531	broad.mit.edu	37	19	308859	308859	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:308859C>T	ENST00000264819.4	-	11	1061	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D351N(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAAGTAGTCGTAGCGCTCC	0.662																																					p.D351N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051A	19						.						66.0	59.0	61.0					19																	308859		2203	4300	6503	259859	SO:0001583	missense	54531	exon11			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1051G>A	19.37:g.308859C>T	ENSP00000264819:p.Asp351Asn		259859	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143462	0.94603	.	.	ENSG00000105556	ENST00000264819	T	0.68765	-0.35	4.49	4.49	0.54785	Homeodomain-like (1);	0.000000	0.48767	D	0.000165	T	0.82250	0.4996	M	0.83312	2.635	0.41098	D	0.98564	D	0.89917	1.0	D	0.69479	0.964	D	0.86215	0.1627	10	0.87932	D	0	-31.5428	16.1739	0.81840	0.0:1.0:0.0:0.0	.	351	Q8N344	MIER2_HUMAN	N	351	ENSP00000264819:D351N	ENSP00000264819:D351N	D	-	1	0	MIER2	259859	0.998000	0.40836	0.993000	0.49108	0.945000	0.59286	3.861000	0.56002	2.038000	0.60285	0.457000	0.33378	GAC		0.662	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
MIER2	54531	broad.mit.edu	37	19	326596	326596	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:326596G>A	ENST00000264819.4	-	6	506	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R166C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGAAACGAGCTTTGGGA	0.562																																					p.R166C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	19						.						85.0	85.0	85.0					19																	326596		2203	4300	6503	277596	SO:0001583	missense	54531	exon6			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.496C>T	19.37:g.326596G>A	ENSP00000264819:p.Arg166Cys		277596	NM_017550	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336846	0.11013	.	.	ENSG00000105556	ENST00000264819	T	0.22134	1.97	4.65	1.26	0.21427	.	1.502620	0.04133	N	0.318310	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.26189	-1.0110	10	0.36615	T	0.2	-5.078	2.6524	0.05003	0.1723:0.1338:0.5392:0.1547	.	166	Q8N344	MIER2_HUMAN	C	166	ENSP00000264819:R166C	ENSP00000264819:R166C	R	-	1	0	MIER2	277596	0.882000	0.30256	0.559000	0.28332	0.359000	0.29487	0.204000	0.17335	0.176000	0.19873	0.650000	0.86243	CGT		0.562	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
ZNF554	115196	broad.mit.edu	37	19	2834264	2834264	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2834264G>T	ENST00000317243.5	+	5	1229	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R344I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACATCAAAGAATTCACACG	0.527																																					p.R344I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031T	19						.						61.0	68.0	66.0					19																	2834264		2079	4243	6322	2785264	SO:0001583	missense	115196	exon5			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1031G>T	19.37:g.2834264G>T	ENSP00000321132:p.Arg344Ile		2785264	NM_001102651	Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854366	0.32791	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.65	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.55103	1.725	0.80722	D	1	P	0.41710	0.76	B	0.29524	0.103	T	0.19484	-1.0304	9	0.87932	D	0	.	8.2963	0.31986	0.0:0.0:0.7655:0.2345	.	344	Q86TJ5	ZN554_HUMAN	I	344	ENSP00000321132:R344I	ENSP00000321132:R344I	R	+	2	0	ZNF554	2785264	0.000000	0.05858	0.641000	0.29422	0.749000	0.42624	0.640000	0.24705	1.498000	0.48600	0.573000	0.79308	AGA		0.527	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
ZNF554	115196	broad.mit.edu	37	19	2834684	2834684	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2834684G>T	ENST00000317243.5	+	5	1649	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R484I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCACGAGAGAACTCACACT	0.542																																					p.R484I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1451T	19						.						54.0	62.0	59.0					19																	2834684		2199	4299	6498	2785684	SO:0001583	missense	115196	exon5			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1451G>T	19.37:g.2834684G>T	ENSP00000321132:p.Arg484Ile		2785684	NM_001102651	Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.636060	0.47049	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.86	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47414	0.1444	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.52975	-0.8503	9	0.87932	D	0	.	11.5211	0.50551	0.0:0.0:1.0:0.0	.	484	Q86TJ5	ZN554_HUMAN	I	484	ENSP00000321132:R484I	ENSP00000321132:R484I	R	+	2	0	ZNF554	2785684	0.015000	0.18098	0.989000	0.46669	0.836000	0.47400	0.878000	0.28126	1.615000	0.50252	0.643000	0.83706	AGA		0.542	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
ZNF555	148254	broad.mit.edu	37	19	2853045	2853045	+	Nonsense_Mutation	SNP	C	C	T	rs147891673		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2853045C>T	ENST00000334241.4	+	4	1120	c.982C>T	c.(982-984)Cga>Tga	p.R328*	ZNF555_ENST00000591539.1_Nonsense_Mutation_p.R327*|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R328*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGGCTTTTCGAAGACACAT	0.403																																					p.R327X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C979T	19						.	C	stop/ARG,stop/ARG	0,4406		0,0,2203	65.0	65.0	65.0		979,982	-1.0	0.0	19	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	ZNF555	NM_001172775.1,NM_152791.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	327/628,328/629	2853045	1,13005	2203	4300	6503	2804045	SO:0001587	stop_gained	148254	exon4			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.982C>T	19.37:g.2853045C>T	ENSP00000334853:p.Arg328*		2804045	NM_001172775	A8KA89|K7EQM2|Q8NA46|Q96MP1	Nonsense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063361	0.93898	0.0	1.16E-4	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.22	-1.03	0.10102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.4709	0.38842	0.5198:0.4801:0.0:0.0	.	.	.	.	X	328;327	.	ENSP00000334853:R328X	R	+	1	2	ZNF555	2804045	0.000000	0.05858	0.002000	0.10522	0.867000	0.49689	-0.228000	0.09114	0.132000	0.18615	0.561000	0.74099	CGA		0.403	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791	
ZNF555	148254	broad.mit.edu	37	19	2853297	2853297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2853297C>T	ENST00000334241.4	+	4	1372	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF555_ENST00000591539.1_Nonsense_Mutation_p.R411*|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	412					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.R412*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCCTTTCGAGGACACAT	0.468																																					p.R411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1231T	19						.						66.0	55.0	59.0					19																	2853297		2203	4300	6503	2804297	SO:0001587	stop_gained	148254	exon4			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1234C>T	19.37:g.2853297C>T	ENSP00000334853:p.Arg412*		2804297	NM_001172775	A8KA89|K7EQM2|Q8NA46|Q96MP1	Nonsense_Mutation	SNP	ENST00000334241.4	37	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693948	0.88735	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.22	-0.976	0.10286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	9.424	0.38567	0.6966:0.3034:0.0:0.0	.	.	.	.	X	412;411	.	ENSP00000334853:R412X	R	+	1	2	ZNF555	2804297	0.000000	0.05858	0.001000	0.08648	0.540000	0.34992	-0.156000	0.10100	0.139000	0.18822	0.561000	0.74099	CGA		0.468	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791	
ZNF556	80032	broad.mit.edu	37	19	2878237	2878237	+	Silent	SNP	C	C	T	rs540339084		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2878237C>T	ENST00000307635.2	+	4	1368	c.1281C>T	c.(1279-1281)tgC>tgT	p.C427C	ZNF556_ENST00000586426.1_Silent_p.C426C	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448																																					p.C427C												.	.	4	Substitution - coding silent(4)	large_intestine(2)|prostate(1)|endometrium(1)	c.C1281T	19						.						101.0	112.0	108.0					19																	2878237		2203	4300	6503	2829237	SO:0001819	synonymous_variant	80032	exon4			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.1281C>T	19.37:g.2878237C>T			2829237	NM_024967	Q96GM3	Silent	SNP	ENST00000307635.2	37	CCDS12097.1																																																																																				0.448	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
ZNF57	126295	broad.mit.edu	37	19	2915584	2915584	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2915584C>A	ENST00000306908.5	+	2	216	c.68C>A	c.(67-69)tCt>tAt	p.S23Y	ZNF57_ENST00000523428.1_5'UTR|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S23Y(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCTGGATTCTGCTCAGAGG	0.522																																					p.S23Y	NSCLC(150;910 1964 4303 10464 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C68A	19						.						180.0	161.0	168.0					19																	2915584		2203	4298	6501	2866584	SO:0001583	missense	126295	exon2			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.68C>A	19.37:g.2915584C>A	ENSP00000303696:p.Ser23Tyr		2866584	NM_173480	Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284205	0.40394	.	.	ENSG00000171970	ENST00000306908;ENST00000395204	T	0.01918	4.56	2.12	-0.482	0.12078	Krueppel-associated box (4);	.	.	.	.	T	0.03095	0.0091	M	0.81942	2.565	0.09310	N	0.999998	P	0.44195	0.828	B	0.35278	0.199	T	0.33701	-0.9858	9	0.49607	T	0.09	.	4.2291	0.10594	0.2652:0.4751:0.2597:0.0	.	23	Q68EA5	ZNF57_HUMAN	Y	23	ENSP00000303696:S23Y	ENSP00000303696:S23Y	S	+	2	0	ZNF57	2866584	0.000000	0.05858	0.009000	0.14445	0.985000	0.73830	-1.905000	0.01591	-0.181000	0.10619	0.407000	0.27541	TCT		0.522	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480	
ZNF77	58492	broad.mit.edu	37	19	2934713	2934713	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2934713C>T	ENST00000314531.4	-	4	504	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E138K(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTTAGCTTCGGTAGGGTAA	0.512																																					p.E138K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	19						.						138.0	127.0	131.0					19																	2934713		2203	4300	6503	2885713	SO:0001583	missense	58492	exon4			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.412G>A	19.37:g.2934713C>T	ENSP00000319053:p.Glu138Lys		2885713	NM_021217	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898926	0.33535	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.15139	2.45	2.77	1.72	0.24424	.	.	.	.	.	T	0.10766	0.0263	N	0.17723	0.515	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.26883	-1.0090	9	0.87932	D	0	.	7.135	0.25523	0.0:0.8569:0.0:0.1431	.	138	Q15935	ZNF77_HUMAN	K	30;138	ENSP00000319053:E138K	ENSP00000319053:E138K	E	-	1	0	ZNF77	2885713	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.786000	0.38694	0.505000	0.28104	0.491000	0.48974	GAA		0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
ZNF77	58492	broad.mit.edu	37	19	2936570	2936570	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2936570C>A	ENST00000314531.4	-	3	355	c.263G>T	c.(262-264)aGa>aTa	p.R88I	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	88	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R88I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTATCAAATCTCCAATTTTC	0.458																																					p.R88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	19						.						84.0	86.0	86.0					19																	2936570		2203	4300	6503	2887570	SO:0001583	missense	58492	exon3			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.263G>T	19.37:g.2936570C>A	ENSP00000319053:p.Arg88Ile		2887570	NM_021217	Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	9.821	1.185745	0.21870	.	.	ENSG00000175691	ENST00000314531	T	0.08193	3.12	2.52	-2.87	0.05700	Krueppel-associated box (1);	.	.	.	.	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.42599	-0.9442	9	0.36615	T	0.2	.	0.4987	0.00576	0.2765:0.2086:0.3168:0.1981	.	88	Q15935	ZNF77_HUMAN	I	88	ENSP00000319053:R88I	ENSP00000319053:R88I	R	-	2	0	ZNF77	2887570	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.060000	0.03475	-0.746000	0.04766	0.484000	0.47621	AGA		0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217	
TLE6	79816	broad.mit.edu	37	19	2987915	2987915	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:2987915C>A	ENST00000246112.4	+	10	846	c.645C>A	c.(643-645)gcC>gcA	p.A215A	TLE6_ENST00000452088.1_Silent_p.A92A|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	215					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A92A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGAGGCCTCCTCCAGTC	0.657																																					p.A215A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645A	19						.						30.0	30.0	30.0					19																	2987915		2203	4300	6503	2938915	SO:0001819	synonymous_variant	79816	exon10			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.645C>A	19.37:g.2987915C>A			2938915	NM_001143986	J3KMZ1	Silent	SNP	ENST00000246112.4	37	CCDS45910.1																																																																																				0.657	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760	
ZNF254	9534	broad.mit.edu	37	19	24310308	24310308	+	Silent	SNP	C	C	A	rs147490367	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:24310308C>A	ENST00000357002.4	+	4	1621	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S	ZNF254_ENST00000342944.6_Silent_p.S417S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	502					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S502S(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAGCCAATCCTCAACCCTTA	0.398																																					p.S502S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506A	19						.						58.0	60.0	59.0					19																	24310308		2200	4296	6496	24102148	SO:0001819	synonymous_variant	9534	exon4			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1506C>A	19.37:g.24310308C>A			24102148	NM_203282	A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	CCDS32983.1																																																																																				0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
UQCRFS1	7386	broad.mit.edu	37	19	29698872	29698872	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:29698872G>A	ENST00000304863.4	-	2	830	c.408C>T	c.(406-408)ttC>ttT	p.F136F		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	136					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.F136F(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TGCTGGAAACGAACTGGGTGA	0.473																																					p.F136F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	19						.						26.0	25.0	25.0					19																	29698872		2201	4277	6478	34390712	SO:0001819	synonymous_variant	7386	exon2			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.408C>T	19.37:g.29698872G>A			34390712	NM_006003	A8K519|Q6NVX5|Q9UPH2	Silent	SNP	ENST00000304863.4	37	CCDS12415.1																																																																																				0.473	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
CCNE1	898	broad.mit.edu	37	19	30311680	30311680	+	Silent	SNP	G	G	A	rs368794196		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:30311680G>A	ENST00000262643.3	+	7	813	c.534G>A	c.(532-534)gcG>gcA	p.A178A	CCNE1_ENST00000357943.5_Intron|CCNE1_ENST00000444983.2_Silent_p.A163A	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	178					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)	p.A178A(2)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			GGTATATGGCGACACAAGAAA	0.328			A		serous ovarian																																p.A163A			Dom	yes		19	19q12	898	cyclin E1		E	.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G489A	19						.	G		0,4406		0,0,2203	69.0	70.0	70.0		534	0.1	1.0	19		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCNE1	NM_001238.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		178/411	30311680	1,13005	2203	4300	6503	35003520	SO:0001819	synonymous_variant	898	exon5			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.534G>A	19.37:g.30311680G>A			35003520	NM_057182	A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	CCDS12419.1																																																																																				0.328	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238	
URI1	8725	broad.mit.edu	37	19	30496605	30496605	+	Silent	SNP	C	C	T	rs78325360	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:30496605C>T	ENST00000542441.2	+	6	804	c.507C>T	c.(505-507)ttC>ttT	p.F169F	URI1_ENST00000312051.6_Silent_p.F129F|URI1_ENST00000392271.1_Silent_p.F93F|URI1_ENST00000360605.4_Silent_p.F151F|URI1_ENST00000574176.1_3'UTR			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	169					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.F169F(2)									AATGTGACTTCGAATTTAAAG	0.318													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17521	0.002		0.0	False		,,,				2504	0.0				p.F169F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C507T	19						.						127.0	128.0	127.0					19																	30496605		2203	4300	6503	35188445	SO:0001819	synonymous_variant	8725	exon6			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.507C>T	19.37:g.30496605C>T			35188445	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1																																																																																				0.318	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
URI1	8725	broad.mit.edu	37	19	30499948	30499948	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:30499948G>A	ENST00000542441.2	+	8	1020	c.723G>A	c.(721-723)acG>acA	p.T241T	URI1_ENST00000312051.6_Silent_p.T201T|URI1_ENST00000392271.1_Silent_p.T165T|URI1_ENST00000360605.4_Silent_p.T223T			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	241					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.T241T(1)									GAGAAGATACGACATCTTCTG	0.343																																					p.T241T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G723A	19						.						84.0	74.0	77.0					19																	30499948		2203	4300	6503	35191788	SO:0001819	synonymous_variant	8725	exon8			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.723G>A	19.37:g.30499948G>A			35191788	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1																																																																																				0.343	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
URI1	8725	broad.mit.edu	37	19	30503251	30503251	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:30503251G>A	ENST00000542441.2	+	10	1535	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	URI1_ENST00000312051.6_Missense_Mutation_p.R373Q|URI1_ENST00000392271.1_Missense_Mutation_p.R337Q|URI1_ENST00000360605.4_Missense_Mutation_p.R395Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	413					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.R413Q(1)									CTGAAGTCTCGAAGTAGAGAG	0.433																																					p.R413Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1238A	19						.						168.0	152.0	157.0					19																	30503251		2203	4300	6503	35195091	SO:0001583	missense	8725	exon10			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1238G>A	19.37:g.30503251G>A	ENSP00000442436:p.Arg413Gln		35195091	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449580	0.63178	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.52983	0.64	5.54	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.51422	1.61	0.58432	D	0.999991	D;D;D	0.57257	0.979;0.964;0.964	P;B;B	0.45610	0.487;0.293;0.217	T	0.53258	-0.8464	10	0.66056	D	0.02	-8.3824	14.2813	0.66213	0.0715:0.0:0.9285:0.0	.	373;413;410	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Q	411;337;413;373	ENSP00000442436:R413Q	ENSP00000312530:R373Q	R	+	2	0	C19orf2	35195091	1.000000	0.71417	0.976000	0.42696	0.202000	0.24057	9.148000	0.94652	1.348000	0.45733	-0.225000	0.12378	CGA		0.433	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
TSHZ3	57616	broad.mit.edu	37	19	31769277	31769277	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:31769277G>A	ENST00000240587.4	-	2	1749	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	474					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V291V(2)|p.V474V(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTCCTTGTCGACTTCCTTCT	0.517																																					p.V474V												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.C1422T	19						.						170.0	171.0	170.0					19																	31769277		2203	4300	6503	36461117	SO:0001819	synonymous_variant	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1422C>T	19.37:g.31769277G>A			36461117	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.517	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
TSHZ3	57616	broad.mit.edu	37	19	31770405	31770405	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:31770405C>T	ENST00000240587.4	-	2	621	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	98					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E98E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTCCTTGGTCTCCTCTTCGT	0.532																																					p.E98E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	19						.						113.0	111.0	112.0					19																	31770405		2106	4232	6338	36462245	SO:0001819	synonymous_variant	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.294G>A	19.37:g.31770405C>T			36462245	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.532	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
PDCD5	9141	broad.mit.edu	37	19	33076768	33076768	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33076768G>T	ENST00000590247.2	+	4	407	c.213G>T	c.(211-213)gaG>gaT	p.E71D	PDCD5_ENST00000586035.1_Missense_Mutation_p.E33D|PDCD5_ENST00000419343.3_Missense_Mutation_p.E71D|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	71					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E71D(1)		breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AAGCAGTAGAGAATTACCTTA	0.328																																					p.E71D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G213T	19						.						107.0	113.0	111.0					19																	33076768		2203	4300	6503	37768608	SO:0001583	missense	9141	exon4			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.213G>T	19.37:g.33076768G>T	ENSP00000466214:p.Glu71Asp		37768608	NM_004708	B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671483	0.47781	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.45	2.03	0.26663	.	0.000000	0.85682	D	0.000000	D	0.85852	0.5793	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.91635	0.989;0.999	D	0.86547	0.1832	9	0.87932	D	0	-7.7899	9.3482	0.38122	0.248:0.0:0.752:0.0	.	71;71	O14737;B4DE64	PDCD5_HUMAN;.	D	71	.	ENSP00000221784:E71D	E	+	3	2	PDCD5	37768608	0.992000	0.36948	1.000000	0.80357	0.154000	0.21943	0.195000	0.17155	0.594000	0.29761	0.557000	0.71058	GAG		0.328	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708	
ANKRD27	84079	broad.mit.edu	37	19	33137443	33137443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33137443C>A	ENST00000306065.4	-	4	450	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.E98*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	98					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E98*(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TAGAAAGTTTCTTCAAAGAGA	0.403																																					p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	19						.						85.0	88.0	87.0					19																	33137443		2203	4300	6503	37829283	SO:0001587	stop_gained	84079	exon4			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.292G>T	19.37:g.33137443C>A	ENSP00000304292:p.Glu98*		37829283	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Nonsense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	38	6.851217	0.97885	.	.	ENSG00000105186	ENST00000306065	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.5218	18.8895	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000304292:E98X	E	-	1	0	ANKRD27	37829283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.657000	0.74402	2.467000	0.83353	0.545000	0.68477	GAA		0.403	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
SLC7A9	11136	broad.mit.edu	37	19	33353095	33353095	+	Silent	SNP	G	G	A	rs372980958		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33353095G>A	ENST00000023064.4	-	6	824	c.633C>T	c.(631-633)ttC>ttT	p.F211F	SLC7A9_ENST00000590341.1_Silent_p.F211F|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.F211F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	211					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.F211F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGCGCCCTCGAAAGAATTAT	0.517																																					p.F211F	GBM(181;1335 2108 9644 44178 46689)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	19	GRCh37	CD010661	SLC7A9	D		.	G	,	0,4406		0,0,2203	68.0	67.0	68.0		633,633	-0.9	0.9	19		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	211/488,211/488	33353095	1,13005	2203	4300	6503	38044935	SO:0001819	synonymous_variant	11136	exon6			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.633C>T	19.37:g.33353095G>A			38044935	NM_001126335	B2R9A6	Silent	SNP	ENST00000023064.4	37	CCDS12425.1																																																																																				0.517	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		
CEP89	84902	broad.mit.edu	37	19	33406297	33406297	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33406297G>A	ENST00000305768.5	-	14	1599	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	504					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.S504L(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTGCCATCCGAGTGTGTTTT	0.393																																					p.S504L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1511T	19						.						121.0	109.0	113.0					19																	33406297		2203	4300	6503	38098137	SO:0001583	missense	84902	exon14			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1511C>T	19.37:g.33406297G>A	ENSP00000306105:p.Ser504Leu		38098137	NM_032816	B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.668305	0.00765	.	.	ENSG00000121289	ENST00000305768	D	0.87029	-2.2	5.6	4.58	0.56647	.	0.136085	0.51477	N	0.000098	T	0.63604	0.2525	N	0.00859	-1.14	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.56944	-0.7895	10	0.14656	T	0.56	-5.2232	10.5525	0.45097	0.9218:0.0:0.0782:0.0	.	257;504	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	L	504	ENSP00000306105:S504L	ENSP00000306105:S504L	S	-	2	0	CEP89	38098137	0.980000	0.34600	0.164000	0.22755	0.005000	0.04900	3.293000	0.51779	0.965000	0.38133	-0.469000	0.05056	TCG		0.393	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	
RHPN2	85415	broad.mit.edu	37	19	33486950	33486950	+	Missense_Mutation	SNP	C	C	T	rs148084786		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33486950C>T	ENST00000254260.3	-	11	1437	c.1402G>A	c.(1402-1404)Gac>Aac	p.D468N	RHPN2_ENST00000400226.4_Missense_Mutation_p.D317N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	468					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.D468N(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGGGGGCGTCGATCAGGTTC	0.622																																					p.D468N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1402A	19						.	G	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	81.0	63.0	69.0		1402	0.2	0.0	19	dbSNP_134	69	0,8600		0,0,4300	no	missense	RHPN2	NM_033103.4	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	468/687	33486950	2,13004	2203	4300	6503	38178790	SO:0001583	missense	85415	exon11			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1402G>A	19.37:g.33486950C>T	ENSP00000254260:p.Asp468Asn		38178790	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.346548	0.24426	4.54E-4	0.0	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.16597	2.33;2.33	4.86	0.203	0.15195	BRO1 domain (2);	0.923114	0.09501	N	0.793641	T	0.10252	0.0251	L	0.31664	0.95	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.37314	-0.9711	10	0.41790	T	0.15	2.122	1.1875	0.01858	0.262:0.2872:0.2856:0.1651	.	468	Q8IUC4	RHPN2_HUMAN	N	468;198;317	ENSP00000254260:D468N;ENSP00000402244:D317N	ENSP00000254260:D468N	D	-	1	0	RHPN2	38178790	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.591000	0.23969	0.113000	0.18004	-0.972000	0.02603	GAC		0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
GPATCH1	55094	broad.mit.edu	37	19	33584411	33584411	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33584411C>A	ENST00000170564.2	+	4	755	c.441C>A	c.(439-441)ctC>ctA	p.L147L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	147					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.L147L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTGATGACCTCATAACGCCAG	0.478																																					p.L147L	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441A	19						.						150.0	136.0	141.0					19																	33584411		2203	4300	6503	38276251	SO:0001819	synonymous_variant	55094	exon4			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.441C>A	19.37:g.33584411C>A			38276251	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	CCDS12428.1																																																																																				0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
ATCAY	85300	broad.mit.edu	37	19	3910853	3910853	+	Missense_Mutation	SNP	C	C	T	rs376658701		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:3910853C>T	ENST00000450849.2	+	8	1299	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	ATCAY_ENST00000600960.1_Missense_Mutation_p.R278W|ATCAY_ENST00000301260.6_Missense_Mutation_p.R278W|ATCAY_ENST00000398448.3_Missense_Mutation_p.R284W	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	278	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.R278W(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GTGGTTCATTCGGACTGTGCT	0.592																																					p.R278W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	19						.	C	TRP/ARG	0,4270		0,0,2135	119.0	127.0	124.0		832	4.3	1.0	19		124	1,8483		0,1,4241	no	missense	ATCAY	NM_033064.4	101	0,1,6376	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	278/372	3910853	1,12753	2135	4242	6377	3861853	SO:0001583	missense	85300	exon8				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.832C>T	19.37:g.3910853C>T	ENSP00000390941:p.Arg278Trp		3861853	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366995	0.82463	0.0	1.18E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.67523	-0.27;-0.27;-0.27	4.35	4.35	0.52113	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.063315	0.64402	D	0.000008	D	0.84174	0.5414	M	0.91717	3.235	0.50813	D	0.999898	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.87653	0.2529	10	0.87932	D	0	-2.6229	12.7004	0.57029	0.165:0.835:0.0:0.0	.	284;278;278	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	W	278;278;278;284;256	ENSP00000390941:R278W;ENSP00000301260:R278W;ENSP00000381466:R284W	ENSP00000301260:R278W	R	+	1	2	ATCAY	3861853	0.998000	0.40836	0.999000	0.59377	0.977000	0.68977	3.866000	0.56040	1.970000	0.57323	0.456000	0.33151	CGG		0.592	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
WDR88	126248	broad.mit.edu	37	19	33639704	33639704	+	Silent	SNP	C	C	T	rs112724972	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33639704C>T	ENST00000355868.3	+	5	643	c.567C>T	c.(565-567)atC>atT	p.I189I	WDR88_ENST00000361680.2_Silent_p.I189I|WDR88_ENST00000592765.1_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	189								p.I189I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACCTTCATCGTCTCCTGTA	0.463													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23078	0.0		0.0	False		,,,				2504	0.0				p.I189I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	19						.	C		0,4406		0,0,2203	257.0	203.0	221.0		567	-0.6	0.1	19	dbSNP_132	221	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	WDR88	NM_173479.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		189/473	33639704	2,13004	2203	4300	6503	38331544	SO:0001819	synonymous_variant	126248	exon5			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.567C>T	19.37:g.33639704C>T			38331544	NM_173479	Q8NEF8	Silent	SNP	ENST00000355868.3	37	CCDS12429.1																																																																																				0.463	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479	
PEPD	5184	broad.mit.edu	37	19	33968993	33968993	+	Silent	SNP	G	G	A	rs377714630		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:33968993G>A	ENST00000244137.7	-	7	540	c.507C>T	c.(505-507)ttC>ttT	p.F169F	PEPD_ENST00000397032.4_Silent_p.F169F|PEPD_ENST00000436370.3_Silent_p.F105F	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	169					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)	p.F169F(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TGTTGACTTCGAACCTGTAGG	0.478																																					p.F105F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	19						.						85.0	86.0	86.0					19																	33968993		2023	4180	6203	38660833	SO:0001819	synonymous_variant	5184	exon5			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.507C>T	19.37:g.33968993G>A			38660833	NM_001166057	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	ENST00000244137.7	37	CCDS42544.1																																																																																				0.478	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285	
CHST8	64377	broad.mit.edu	37	19	34263720	34263720	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:34263720G>A	ENST00000262622.4	+	4	1785	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	CHST8_ENST00000438847.3_Missense_Mutation_p.D343N|CHST8_ENST00000434302.1_Missense_Mutation_p.D343N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	343					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.D343N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CATCGACTACGATTTCGTAGG	0.622																																					p.D343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	19						.						74.0	57.0	63.0					19																	34263720		2203	4299	6502	38955560	SO:0001583	missense	64377	exon5			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1027G>A	19.37:g.34263720G>A	ENSP00000262622:p.Asp343Asn		38955560	NM_001127895	Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996255	0.74818	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75589	-0.95;-0.95;-0.95	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	L	0.52364	1.645	0.53688	D	0.999975	D	0.89917	1.0	D	0.87578	0.998	T	0.82967	-0.0194	10	0.45353	T	0.12	-23.3678	17.2896	0.87152	0.0:0.0:1.0:0.0	.	343	Q9H2A9	CHST8_HUMAN	N	343	ENSP00000392604:D343N;ENSP00000393879:D343N;ENSP00000262622:D343N	ENSP00000262622:D343N	D	+	1	0	CHST8	38955560	1.000000	0.71417	0.994000	0.49952	0.557000	0.35523	7.988000	0.88194	2.331000	0.79229	0.297000	0.19635	GAT		0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467	
GPI	2821	broad.mit.edu	37	19	34890646	34890646	+	Silent	SNP	C	C	T	rs138799755	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:34890646C>T	ENST00000356487.5	+	17	1738	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	GPI_ENST00000415930.3_Silent_p.F510F|GPI_ENST00000586425.1_Intron|RP11-618P17.4_ENST00000606020.1_5'Flank	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	499					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.F499F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ACAAGATCTTCGTTCAGGGCA	0.547																																					p.F499F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T	19						.	C	,	2,4404	4.2+/-10.8	0,2,2201	115.0	106.0	109.0		1497,1530	-1.6	1.0	19	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPI	NM_000175.3,NM_001184722.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	499/559,510/570	34890646	2,13004	2203	4300	6503	39582486	SO:0001819	synonymous_variant	2821	exon17			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1497C>T	19.37:g.34890646C>T			39582486	NM_000175	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	CCDS12437.1																																																																																				0.547	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		
SCGB2B2	284402	broad.mit.edu	37	19	35085230	35085230	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35085230C>T	ENST00000601241.1	-	3	2196	c.96G>A	c.(94-96)gcG>gcA	p.A32A	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.A32A			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	32						extracellular region (GO:0005576)		p.A32A(1)									ACACAACATTCGCAAGCAGTT	0.512																																					p.A32A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G96A	19						.						122.0	106.0	111.0					19																	35085230		2203	4300	6503	39777070	SO:0001819	synonymous_variant	284402	exon2			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.96G>A	19.37:g.35085230C>T			39777070	NM_001025591		Silent	SNP	ENST00000601241.1	37	CCDS32989.1																																																																																				0.512	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591	
ZNF599	148103	broad.mit.edu	37	19	35249976	35249976	+	Missense_Mutation	SNP	G	G	A	rs375653236		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35249976G>A	ENST00000329285.8	-	4	2103	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	577					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.S577L(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGAGTGAACGATGAACTGTG	0.408																																					p.S577L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1730T	19						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	150.0	142.0	145.0		1730	2.4	0.9	19		145	0,8600		0,0,4300	no	missense	ZNF599	NM_001007248.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	577/589	35249976	1,13005	2203	4300	6503	39941816	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1730C>T	19.37:g.35249976G>A	ENSP00000333802:p.Ser577Leu		39941816	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	4.449	0.083213	0.08533	2.27E-4	0.0	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.15834	2.39	2.43	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.53671	1.685	0.80722	D	1	P	0.35011	0.48	B	0.15484	0.013	T	0.12167	-1.0558	9	0.34782	T	0.22	.	10.9731	0.47450	0.0:0.0:1.0:0.0	.	577	Q96NL3	ZN599_HUMAN	L	576;577	ENSP00000333802:S577L	ENSP00000333802:S577L	S	-	2	0	ZNF599	39941816	0.000000	0.05858	0.864000	0.33941	0.691000	0.40173	0.026000	0.13599	1.676000	0.50930	0.491000	0.48974	TCG		0.408	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
ZNF599	148103	broad.mit.edu	37	19	35250312	35250312	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35250312A>G	ENST00000329285.8	-	4	1767	c.1394T>C	c.(1393-1395)gTt>gCt	p.V465A		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	465					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.V465A(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCGAATAAAAACAGAGTGGTG	0.413																																					p.V465A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1394C	19						.						84.0	88.0	87.0					19																	35250312		2203	4300	6503	39942152	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1394T>C	19.37:g.35250312A>G	ENSP00000333802:p.Val465Ala		39942152	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	0.187	-1.056975	0.01965	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.10099	2.91	2.69	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.01464	-0.85	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.45396	-0.9264	9	0.11182	T	0.66	.	4.8787	0.13668	0.2479:0.0:0.1123:0.6398	.	465	Q96NL3	ZN599_HUMAN	A	464;465;239	ENSP00000333802:V465A	ENSP00000333802:V465A	V	-	2	0	ZNF599	39942152	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-1.717000	0.01876	-0.773000	0.04596	0.402000	0.26972	GTT		0.413	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
ZNF599	148103	broad.mit.edu	37	19	35250485	35250485	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35250485G>A	ENST00000329285.8	-	4	1594	c.1221C>T	c.(1219-1221)cgC>cgT	p.R407R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R407R(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGAAAGTGGAGCGATGAGTAA	0.473																																					p.R407R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1221T	19						.						66.0	64.0	65.0					19																	35250485		2203	4300	6503	39942325	SO:0001819	synonymous_variant	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1221C>T	19.37:g.35250485G>A			39942325	NM_001007248	Q569K0|Q5PRG1	Silent	SNP	ENST00000329285.8	37	CCDS32991.1																																																																																				0.473	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
ZNF599	148103	broad.mit.edu	37	19	35251320	35251320	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35251320T>G	ENST00000329285.8	-	4	759	c.386A>C	c.(385-387)aAa>aCa	p.K129T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	129					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.K129T(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCCTGAATTTTTATTAGCTT	0.453																																					p.K129T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A386C	19						.						106.0	114.0	112.0					19																	35251320		2203	4300	6503	39943160	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.386A>C	19.37:g.35251320T>G	ENSP00000333802:p.Lys129Thr		39943160	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	2.326	-0.354424	0.05173	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22134	1.97	2.57	2.57	0.30868	.	.	.	.	.	T	0.08223	0.0205	N	0.03608	-0.345	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.34782	T	0.22	.	4.3768	0.11274	0.0:0.1573:0.0:0.8427	.	129	Q96NL3	ZN599_HUMAN	T	128;129	ENSP00000333802:K129T	ENSP00000333802:K129T	K	-	2	0	ZNF599	39943160	0.000000	0.05858	0.134000	0.22075	0.058000	0.15608	-0.045000	0.12003	1.436000	0.47453	0.402000	0.26972	AAA		0.453	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
ZNF30	90075	broad.mit.edu	37	19	35422784	35422784	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35422784T>A	ENST00000601142.1	+	3	284	c.47T>A	c.(46-48)tTt>tAt	p.F16Y	ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.F16Y|ZNF30_ENST00000303586.7_Missense_Mutation_p.F16Y|ZNF30_ENST00000601957.1_Missense_Mutation_p.F16Y			P17039	ZNF30_HUMAN	zinc finger protein 30	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F16Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TCAGTGACATTTGAGGATGTG	0.458																																					p.F16Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47A	19						.						83.0	87.0	86.0					19																	35422784		2138	4265	6403	40114624	SO:0001583	missense	90075	exon3			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.47T>A	19.37:g.35422784T>A	ENSP00000469954:p.Phe16Tyr		40114624	NM_001099437	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711247	0.30322	.	.	ENSG00000168661	ENST00000439785;ENST00000303586	T;T	0.08370	3.1;3.1	1.55	1.55	0.23275	Krueppel-associated box (4);	.	.	.	.	T	0.22627	0.0546	M	0.93016	3.37	0.80722	D	1	P;D	0.54207	0.692;0.965	B;P	0.52598	0.073;0.703	T	0.03773	-1.1005	9	0.87932	D	0	.	5.2312	0.15422	0.0:0.0:0.0:1.0	.	16;16	P17039-2;P17039	.;ZNF30_HUMAN	Y	16	ENSP00000403441:F16Y;ENSP00000303889:F16Y	ENSP00000303889:F16Y	F	+	2	0	ZNF30	40114624	0.867000	0.29959	0.798000	0.32154	0.635000	0.38103	2.576000	0.46033	0.965000	0.38133	0.421000	0.28195	TTT		0.458	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325	
ZNF30	90075	broad.mit.edu	37	19	35434228	35434228	+	Missense_Mutation	SNP	C	C	T	rs372094110		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35434228C>T	ENST00000601142.1	+	5	595	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	ZNF30_ENST00000595818.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R39C|ZNF30_ENST00000439785.1_Missense_Mutation_p.R121C|ZNF30_ENST00000303586.7_Missense_Mutation_p.R121C|ZNF30_ENST00000601957.1_3'UTR			P17039	ZNF30_HUMAN	zinc finger protein 30	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R121C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		ACAGAAACCACGTGAATGTCA	0.383																																					p.R121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	19						.	C	CYS/ARG,CYS/ARG,CYS/ARG	0,3734		0,0,1867	82.0	78.0	79.0		361,361,358	-3.8	0.0	19		79	1,8209		0,1,4104	no	missense,missense,missense	ZNF30	NM_001099437.1,NM_001099438.1,NM_194325.2	180,180,180	0,1,5971	TT,TC,CC		0.0122,0.0,0.0084	benign,benign,benign	121/625,121/625,120/624	35434228	1,11943	1867	4105	5972	40126068	SO:0001583	missense	90075	exon5			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.358C>T	19.37:g.35434228C>T	ENSP00000469954:p.Arg120Cys		40126068	NM_001099437	A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	C	5.549	0.286110	0.10513	0.0	1.22E-4	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813	T;T	0.27890	1.64;1.64	1.91	-3.82	0.04281	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.16512	-1.0400	9	0.52906	T	0.07	.	2.968	0.05913	0.2002:0.2196:0.0:0.5802	.	121;120	P17039-2;P17039	.;ZNF30_HUMAN	C	121;120;39	ENSP00000403441:R121C;ENSP00000416457:R39C	ENSP00000303889:R120C	R	+	1	0	ZNF30	40126068	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.183000	0.03079	-1.606000	0.01591	-1.257000	0.01473	CGT		0.383	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325	
ZNF792	126375	broad.mit.edu	37	19	35449072	35449072	+	Missense_Mutation	SNP	C	C	T	rs139720825		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35449072C>T	ENST00000404801.1	-	4	2073	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E496K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	563					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.E484K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGCTGCATTCGTAAGGCCTG	0.522																																					p.E563K	GBM(1;7 183 21053 22581 22847)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1687A	19						.	C	LYS/GLU	0,4406		0,0,2203	124.0	95.0	104.0		1687	-5.6	0.0	19	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF792	NM_175872.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	563/633	35449072	1,13005	2203	4300	6503	40140912	SO:0001583	missense	126375	exon4			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1687G>A	19.37:g.35449072C>T	ENSP00000385099:p.Glu563Lys		40140912	NM_175872	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	2.721	-0.266507	0.05754	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.19250	2.16	2.81	-5.62	0.02481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.01284	-0.91	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31392	-0.9945	9	0.18276	T	0.48	.	1.0872	0.01655	0.2924:0.1302:0.1202:0.4572	.	563	Q3KQV3	ZN792_HUMAN	K	563;323	ENSP00000385099:E563K	ENSP00000368487:E323K	E	-	1	0	ZNF792	40140912	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-5.606000	0.00110	-1.710000	0.01397	-0.251000	0.11542	GAA		0.522	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872	
HPN	3249	broad.mit.edu	37	19	35551573	35551573	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35551573C>T	ENST00000262626.2	+	9	1488	c.663C>T	c.(661-663)gcC>gcT	p.A221A	HPN_ENST00000597419.1_Silent_p.A63A|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.A221A	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.A221A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TTGCCGGTGCCGTGGCCCAGG	0.677																																					p.A221A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663T	19						.						75.0	68.0	70.0					19																	35551573		2203	4299	6502	40243413	SO:0001819	synonymous_variant	3249	exon10				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.663C>T	19.37:g.35551573C>T			40243413	NM_002151	B2RDS4	Silent	SNP	ENST00000262626.2	37	CCDS32993.1																																																																																				0.677	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151	
HAMP	57817	broad.mit.edu	37	19	35775856	35775856	+	Nonsense_Mutation	SNP	C	C	T	rs104894695		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35775856C>T	ENST00000598398.1	+	4	462	c.166C>T	c.(166-168)Cga>Tga	p.R56*	HAMP_ENST00000222304.3_Nonsense_Mutation_p.R56*	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	56					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)		p.R56*(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTTCCAGAGGCGAAGGAGGCG	0.582																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	19	GRCh37	CM030043	HAMP	M	rs104894695	.						160.0	148.0	152.0					19																	35775856		2203	4300	6503	40467696	SO:0001587	stop_gained	57817	exon3			AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.166C>T	19.37:g.35775856C>T	ENSP00000471894:p.Arg56*		40467696	NM_021175	Q1HE14|Q9BY68	Nonsense_Mutation	SNP	ENST00000598398.1	37	CCDS12454.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549627	0.45383	.	.	ENSG00000105697	ENST00000222304	.	.	.	4.51	0.802	0.18686	.	1.709840	0.03749	N	0.256263	.	.	.	.	.	.	0.58432	A	0.999993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5064	9.9108	0.41403	0.5677:0.4323:0.0:0.0	.	.	.	.	X	56	.	ENSP00000222304:R56X	R	+	1	2	HAMP	40467696	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.850000	0.27737	0.492000	0.27815	0.561000	0.74099	CGA		0.582	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175	
MAG	4099	broad.mit.edu	37	19	35791235	35791235	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35791235G>T	ENST00000392213.3	+	6	1057	c.898G>T	c.(898-900)Gac>Tac	p.D300Y	MAG_ENST00000537831.2_Missense_Mutation_p.D275Y|MAG_ENST00000361922.4_Missense_Mutation_p.D300Y	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	300	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.D300Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCGAAGACGGCGTCTA	0.687																																					p.D275Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G823T	19						.						25.0	26.0	25.0					19																	35791235		2200	4299	6499	40483075	SO:0001583	missense	4099	exon6			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.898G>T	19.37:g.35791235G>T	ENSP00000376048:p.Asp300Tyr		40483075	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.125567	0.56721	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.67698	-0.28;-0.28;-0.28	4.03	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056361	0.64402	D	0.000002	T	0.74458	0.3719	L	0.46885	1.475	0.50813	D	0.999891	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.67103	0.917;0.925;0.949	T	0.77032	-0.2738	10	0.62326	D	0.03	.	13.6985	0.62593	0.0:0.0:1.0:0.0	.	337;300;300	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	Y	337;300;300;275	ENSP00000355234:D300Y;ENSP00000376048:D300Y;ENSP00000440695:D275Y	ENSP00000262624:D337Y	D	+	1	0	MAG	40483075	1.000000	0.71417	0.994000	0.49952	0.209000	0.24338	6.261000	0.72509	2.077000	0.62373	0.298000	0.19748	GAC		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
MAG	4099	broad.mit.edu	37	19	35801460	35801460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35801460G>A	ENST00000392213.3	+	9	1689	c.1530G>A	c.(1528-1530)atG>atA	p.M510I	MAG_ENST00000537831.2_Missense_Mutation_p.M485I|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.M510I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	510					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.M510I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCGACTGATGTGGGCCAAGA	0.577																																					p.M485I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1455A	19						.						85.0	76.0	79.0					19																	35801460		2203	4300	6503	40493300	SO:0001583	missense	4099	exon9			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1530G>A	19.37:g.35801460G>A	ENSP00000376048:p.Met510Ile		40493300	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143705	0.37825	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.63255	0.11;-0.03;0.04	4.92	4.92	0.64577	.	0.045499	0.85682	D	0.000000	T	0.48259	0.1490	L	0.34521	1.04	0.51233	D	0.999915	B;B;B	0.31581	0.047;0.329;0.329	B;B;B	0.28849	0.008;0.065;0.095	T	0.42716	-0.9435	10	0.16420	T	0.52	.	13.5969	0.61996	0.0:0.0:1.0:0.0	.	547;510;510	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	I	547;510;510;485	ENSP00000355234:M510I;ENSP00000376048:M510I;ENSP00000440695:M485I	ENSP00000262624:M547I	M	+	3	0	MAG	40493300	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.777000	0.68931	2.257000	0.74773	0.462000	0.41574	ATG		0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
MAG	4099	broad.mit.edu	37	19	35802896	35802896	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35802896C>T	ENST00000392213.3	+	10	1851	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	MAG_ENST00000537831.2_Silent_p.I539I|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Silent_p.I564I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	564					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.I564I(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTTCCGCATCTCTGGGGCAC	0.622																																					p.I539I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1617T	19						.						43.0	34.0	37.0					19																	35802896		2203	4300	6503	40494736	SO:0001819	synonymous_variant	4099	exon10			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1692C>T	19.37:g.35802896C>T			40494736	NM_001199216	B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	CCDS12455.1																																																																																				0.622	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
CD22	933	broad.mit.edu	37	19	35823509	35823509	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35823509C>A	ENST00000085219.5	+	3	160	c.94C>A	c.(94-96)Ctc>Atc	p.L32I	CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.L32I|CD22_ENST00000594250.1_Missense_Mutation_p.L32I|CD22_ENST00000341773.6_Missense_Mutation_p.L32I|CD22_ENST00000536635.2_Missense_Mutation_p.L32I|CD22_ENST00000270311.6_5'UTR|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000419549.2_5'UTR	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	32	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.L32I(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTGAAACCCTCTACGCCTG	0.502																																					p.L32I	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94A	19						.						50.0	55.0	53.0					19																	35823509		2203	4300	6503	40515349	SO:0001583	missense	933	exon3			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.94C>A	19.37:g.35823509C>A	ENSP00000085219:p.Leu32Ile		40515349	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	7.746	0.702333	0.15172	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.32	-1.1	0.09872	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.715070	0.12102	N	0.499385	T	0.17066	0.0410	L	0.39397	1.21	0.24354	N	0.994909	B;B;B;B	0.25351	0.02;0.124;0.002;0.004	B;B;B;B	0.24269	0.016;0.052;0.002;0.011	T	0.34675	-0.9819	10	0.07325	T	0.83	.	4.2407	0.10647	0.2455:0.442:0.2366:0.0759	.	32;32;32;32	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	I	32	ENSP00000085219:L32I;ENSP00000442279:L32I;ENSP00000339349:L32I;ENSP00000441237:L32I	ENSP00000085219:L32I	L	+	1	0	CD22	40515349	0.000000	0.05858	0.028000	0.17463	0.049000	0.14656	-0.769000	0.04710	-0.246000	0.09611	-3.118000	0.00062	CTC		0.502	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
CD22	933	broad.mit.edu	37	19	35827039	35827039	+	Silent	SNP	G	G	A	rs534159105		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35827039G>A	ENST00000085219.5	+	4	579	c.513G>A	c.(511-513)ccG>ccA	p.P171P	CD22_ENST00000544992.2_Silent_p.P171P|CD22_ENST00000594250.1_Silent_p.P171P|CD22_ENST00000341773.6_Silent_p.P171P|CD22_ENST00000536635.2_Silent_p.P171P|CD22_ENST00000270311.6_Silent_p.P51P|CD22_ENST00000419549.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	171	Ig-like C2-type 1.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.P171P(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATGGGTATCCGATCCAATTGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19162	0.0		0.0	False		,,,				2504	0.001				p.P171P	Ovarian(42;1009 1133 23674 26041)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.G513A	19						.						94.0	98.0	96.0					19																	35827039		2203	4300	6503	40518879	SO:0001819	synonymous_variant	933	exon4			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.513G>A	19.37:g.35827039G>A			40518879	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
FFAR2	2867	broad.mit.edu	37	19	35940829	35940829	+	Silent	SNP	G	G	A	rs373797261		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35940829G>A	ENST00000599180.2	+	2	293	c.213G>A	c.(211-213)tcG>tcA	p.S71S	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.S71S			O15552	FFAR2_HUMAN	free fatty acid receptor 2	71					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.S71S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGCTGCGTCGAACTTCCGCT	0.627																																					p.S71S	GBM(40;139 809 9833 23358 48736)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G213A	19						.	G		1,4405	2.1+/-5.4	0,1,2202	52.0	42.0	45.0		213	-11.2	0.0	19		45	0,8600		0,0,4300	no	coding-synonymous	FFAR2	NM_005306.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		71/331	35940829	1,13005	2203	4300	6503	40632669	SO:0001819	synonymous_variant	2867	exon1			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.213G>A	19.37:g.35940829G>A			40632669	NM_005306	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.627	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
FFAR2	2867	broad.mit.edu	37	19	35940982	35940982	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35940982G>A	ENST00000599180.2	+	2	446	c.366G>A	c.(364-366)cgG>cgA	p.R122R	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.R122R			O15552	FFAR2_HUMAN	free fatty acid receptor 2	122					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R122R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCTCCCGCCGGCCTCTGTATG	0.572																																					p.R122R	GBM(40;139 809 9833 23358 48736)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G366A	19						.						87.0	77.0	80.0					19																	35940982		2203	4300	6503	40632822	SO:0001819	synonymous_variant	2867	exon1			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.366G>A	19.37:g.35940982G>A			40632822	NM_005306	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.572	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
FFAR2	2867	broad.mit.edu	37	19	35941525	35941525	+	Silent	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35941525C>G	ENST00000599180.2	+	2	989	c.909C>G	c.(907-909)ggC>ggG	p.G303G	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.G303G			O15552	FFAR2_HUMAN	free fatty acid receptor 2	303					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.G303G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACGCAGAGGCAAAGACACAG	0.567																																					p.G303G	GBM(40;139 809 9833 23358 48736)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C909G	19						.						71.0	72.0	71.0					19																	35941525		2203	4300	6503	40633365	SO:0001819	synonymous_variant	2867	exon1			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.909C>G	19.37:g.35941525C>G			40633365	NM_005306	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.567	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
DMKN	93099	broad.mit.edu	37	19	35991440	35991440	+	Missense_Mutation	SNP	C	C	T	rs547354931		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:35991440C>T	ENST00000339686.3	-	12	1458	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	DMKN_ENST00000414866.2_Missense_Mutation_p.D141N|DMKN_ENST00000436012.1_Missense_Mutation_p.D124N|DMKN_ENST00000402589.2_Missense_Mutation_p.D141N|DMKN_ENST00000467637.1_Missense_Mutation_p.D153N|DMKN_ENST00000472252.2_Missense_Mutation_p.D75N|DMKN_ENST00000602781.1_Missense_Mutation_p.D141N|DMKN_ENST00000492341.2_Missense_Mutation_p.D75N|DMKN_ENST00000419602.1_Missense_Mutation_p.D417N|DMKN_ENST00000408915.2_Missense_Mutation_p.D42N|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000429837.1_Missense_Mutation_p.D387N|DMKN_ENST00000480502.1_Missense_Mutation_p.D122N|DMKN_ENST00000443640.1_Missense_Mutation_p.D191N	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	428						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D428N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCACCTGATCGTCTCTGCCT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19166	0.0		0.0	False		,,,				2504	0.0				p.D428N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	19						.						84.0	54.0	64.0					19																	35991440		2203	4300	6503	40683280	SO:0001583	missense	93099	exon12			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1282G>A	19.37:g.35991440C>T	ENSP00000342012:p.Asp428Asn		40683280	NM_033317	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.773|5.773	0.327002|0.327002	0.10900|0.10900	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000408915;ENST00000402589;ENST00000339686;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640|ENST00000434389	T;T;T;T;T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02|.	4.11|4.11	2.91|2.91	0.33838|0.33838	.|.	0.169711|.	0.27881|.	N|.	0.017472|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.29908|0.29908	0.895|0.895	0.18873|0.18873	N|N	0.999989|0.999989	B;B;P;B;P;P;D;B;B;B;B;B|.	0.63046|.	0.086;0.086;0.642;0.164;0.564;0.787;0.992;0.433;0.086;0.009;0.012;0.319|.	B;B;B;B;B;B;P;B;B;B;B;B|.	0.50791|.	0.008;0.008;0.062;0.042;0.061;0.14;0.65;0.049;0.008;0.003;0.003;0.018|.	T|T	0.18967|0.18967	-1.0320|-1.0320	10|5	0.36615|.	T|.	0.2|.	-2.8987|-2.8987	7.6162|7.6162	0.28158|0.28158	0.0:0.8677:0.0:0.1323|0.0:0.8677:0.0:0.1323	.|.	124;75;84;84;104;122;417;387;428;141;191;42|.	B4E3D1;B7ZB10;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1;Q6E0U4-15|.	.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.;.|.	N|Q	42;141;428;124;141;387;417;191|138	ENSP00000386225:D42N;ENSP00000384509:D141N;ENSP00000342012:D428N;ENSP00000412075:D124N;ENSP00000392222:D141N;ENSP00000405503:D387N;ENSP00000391036:D417N;ENSP00000406864:D191N|.	ENSP00000342012:D428N|.	D|R	-|-	1|2	0|0	DMKN|DMKN	40683280|40683280	0.000000|0.000000	0.05858|0.05858	0.050000|0.050000	0.19076|0.19076	0.208000|0.208000	0.24298|0.24298	-0.678000|-0.678000	0.05209|0.05209	0.910000|0.910000	0.36722|0.36722	0.436000|0.436000	0.28706|0.28706	GAT|CGA		0.607	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317	
RBM42	79171	broad.mit.edu	37	19	36125221	36125221	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36125221C>T	ENST00000262633.4	+	8	1186	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	RBM42_ENST00000588161.1_Missense_Mutation_p.R331C|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000360475.4_Missense_Mutation_p.R332C|RBM42_ENST00000592202.1_Missense_Mutation_p.R307C|RBM42_ENST00000589559.1_Missense_Mutation_p.R332C|RBM42_ENST00000589871.1_Missense_Mutation_p.R339C	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	361	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R361C(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACGGTGCATTCGCACAGCGGC	0.607																																					p.R361C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1081T	19						.						54.0	49.0	50.0					19																	36125221		2203	4300	6503	40817061	SO:0001583	missense	79171	exon8			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1081C>T	19.37:g.36125221C>T	ENSP00000262633:p.Arg361Cys		40817061	NM_024321	O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804923	0.70682	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.10005	2.92;2.99	5.91	5.91	0.95273	.	0.049334	0.85682	D	0.000000	T	0.31482	0.0798	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.992;0.999	D;P;P;P	0.64321	0.924;0.796;0.858;0.719	T	0.00363	-1.1788	10	0.87932	D	0	-4.6372	17.7902	0.88550	0.0:1.0:0.0:0.0	.	327;332;331;361	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	C	361;332	ENSP00000262633:R361C;ENSP00000353663:R332C	ENSP00000262633:R361C	R	+	1	0	RBM42	40817061	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	5.458000	0.66679	2.813000	0.96785	0.655000	0.94253	CGC		0.607	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321	
ZBTB32	27033	broad.mit.edu	37	19	36205935	36205935	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36205935G>T	ENST00000392197.2	+	3	725	c.407G>T	c.(406-408)aGg>aTg	p.R136M	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.R136M|KMT2B_ENST00000341701.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	136					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R136M(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAACCCTCAAGGAATCCTGAG	0.547																																					p.R136M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407T	19						.						42.0	46.0	44.0					19																	36205935		2203	4300	6503	40897775	SO:0001583	missense	27033	exon2			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.407G>T	19.37:g.36205935G>T	ENSP00000376035:p.Arg136Met		40897775	NM_014383	Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961634	0.34659	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09445	2.98;2.98	4.69	2.47	0.30058	.	0.275741	0.26387	N	0.024671	T	0.07143	0.0181	L	0.32530	0.975	0.09310	N	1	B	0.29378	0.243	B	0.20955	0.032	T	0.28332	-1.0047	10	0.54805	T	0.06	-3.6209	5.9941	0.19483	0.0994:0.0:0.7138:0.1868	.	136	Q9Y2Y4	ZBT32_HUMAN	M	136	ENSP00000262630:R136M;ENSP00000376035:R136M	ENSP00000262630:R136M	R	+	2	0	ZBTB32	40897775	0.001000	0.12720	0.004000	0.12327	0.382000	0.30200	0.451000	0.21779	0.482000	0.27582	0.655000	0.94253	AGG		0.547	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
KMT2B	9757	broad.mit.edu	37	19	36227600	36227600	+	Missense_Mutation	SNP	C	C	T	rs367682204		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36227600C>T	ENST00000222270.7	+	31	7169	c.7169C>T	c.(7168-7170)tCg>tTg	p.S2390L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S2390L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2390					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S2392L(1)									GGTGAGGCTTCGAGCTCTGAG	0.587																																					p.S2390L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7169T	19						.	C	LEU/SER	0,3972		0,0,1986	48.0	51.0	50.0		7169	5.8	1.0	19		50	1,8315		0,1,4157	no	missense	MLL4	NM_014727.1	145	0,1,6143	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	2390/2716	36227600	1,12287	1986	4158	6144	40919440	SO:0001583	missense	9757	exon31			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7169C>T	19.37:g.36227600C>T	ENSP00000222270:p.Ser2390Leu		40919440	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031021	0.54790	0.0	1.2E-4	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84298	-1.83;-1.83	5.84	5.84	0.93424	.	0.000000	0.35615	N	0.003096	D	0.84437	0.5472	L	0.46157	1.445	0.38496	D	0.948107	D	0.63046	0.992	P	0.45610	0.487	D	0.85958	0.1468	10	0.48119	T	0.1	.	18.9181	0.92515	0.0:1.0:0.0:0.0	.	2390	Q9UMN6	MLL4_HUMAN	L	2390	ENSP00000222270:S2390L;ENSP00000398837:S2390L	ENSP00000222270:S2390L	S	+	2	0	AD000671.1	40919440	0.995000	0.38212	0.990000	0.47175	0.980000	0.70556	3.422000	0.52749	2.755000	0.94549	0.655000	0.94253	TCG		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
PROSER3	148137	broad.mit.edu	37	19	36255827	36255827	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36255827C>T	ENST00000544099.1	+	6	679	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	C19orf55_ENST00000396908.4_Missense_Mutation_p.L206F			Q2NL68	PRSR3_HUMAN		206								p.L206F(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCAGGCTGCTCAAACGCAG	0.637																																					p.L206F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	19						.						50.0	61.0	57.0					19																	36255827		2117	4240	6357	40947667	SO:0001583	missense	148137	exon6																														ENST00000544099.1:c.616C>T	19.37:g.36255827C>T	ENSP00000467267:p.Leu206Phe		40947667	NM_001039887	Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	C	16.91	3.253841	0.59212	.	.	ENSG00000167595	ENST00000396908;ENST00000301165	T;T	0.52526	0.66;0.66	4.42	3.39	0.38822	.	0.000000	0.32671	N	0.005786	T	0.50188	0.1601	M	0.66939	2.045	0.09310	N	1	D	0.54047	0.964	P	0.48873	0.593	T	0.47275	-0.9130	10	0.66056	D	0.02	-21.4605	8.2684	0.31829	0.0:0.8908:0.0:0.1092	.	206	E5RFB9	.	F	206;205	ENSP00000380116:L206F;ENSP00000301165:L205F	ENSP00000301165:L205F	L	+	1	0	C19orf55	40947667	0.989000	0.36119	0.164000	0.22755	0.981000	0.71138	3.261000	0.51530	1.217000	0.43442	0.558000	0.71614	CTC		0.637	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
NPHS1	4868	broad.mit.edu	37	19	36317520	36317520	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36317520C>A	ENST00000378910.5	-	29	3621	c.3622G>T	c.(3622-3624)Gac>Tac	p.D1208Y	NPHS1_ENST00000353632.6_Missense_Mutation_p.D1168Y	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1208	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.D1208Y(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGATATGTGTCTTCAGGCCAG	0.537																																					p.D1208Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3622T	19						.						82.0	77.0	79.0					19																	36317520		2203	4300	6503	41009360	SO:0001583	missense	4868	exon29				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3622G>T	19.37:g.36317520C>A	ENSP00000368190:p.Asp1208Tyr		41009360	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	3.222	-0.159255	0.06544	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.74737	-0.74;-0.87	4.83	2.7	0.31948	.	1.066700	0.07199	N	0.857163	T	0.59649	0.2209	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.49799	-0.8901	10	0.51188	T	0.08	-4.4491	6.4056	0.21662	0.0:0.6995:0.2012:0.0993	.	1208	O60500	NPHN_HUMAN	Y	1208;1168	ENSP00000368190:D1208Y;ENSP00000343634:D1168Y	ENSP00000343634:D1168Y	D	-	1	0	NPHS1	41009360	0.001000	0.12720	0.010000	0.14722	0.005000	0.04900	0.120000	0.15647	0.668000	0.31126	0.644000	0.83932	GAC		0.537	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
NPHS1	4868	broad.mit.edu	37	19	36334418	36334418	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36334418C>T	ENST00000378910.5	-	17	2289	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	NPHS1_ENST00000353632.6_Missense_Mutation_p.D764N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	764	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.D764N(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGATTGGCATCGACAGTGCAG	0.582																																					p.D764N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2290A	19						.						142.0	127.0	132.0					19																	36334418		2203	4300	6503	41026258	SO:0001583	missense	4868	exon17				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2290G>A	19.37:g.36334418C>T	ENSP00000368190:p.Asp764Asn		41026258	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296626	0.81025	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.13307	2.6;2.6	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051623	0.85682	D	0.000000	T	0.31638	0.0803	L	0.49256	1.55	0.50632	D	0.999882	D	0.89917	1.0	D	0.87578	0.998	T	0.01312	-1.1388	10	0.87932	D	0	-14.3377	14.3119	0.66422	0.0:1.0:0.0:0.0	.	764	O60500	NPHN_HUMAN	N	764	ENSP00000368190:D764N;ENSP00000343634:D764N	ENSP00000343634:D764N	D	-	1	0	NPHS1	41026258	0.998000	0.40836	0.791000	0.31998	0.612000	0.37316	5.194000	0.65125	2.532000	0.85374	0.456000	0.33151	GAT		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
CREB3L3	84699	broad.mit.edu	37	19	4171432	4171432	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4171432G>A	ENST00000078445.2	+	9	1175	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	CREB3L3_ENST00000252587.3_Missense_Mutation_p.A232T|CREB3L3_ENST00000602147.1_Nonsense_Mutation_p.W307*|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G342D|CREB3L3_ENST00000602257.1_Missense_Mutation_p.G341D	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	343					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)	p.G343D(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCTTTTGGCCCCAACAAA	0.617																																					p.G343D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028A	19						.						87.0	79.0	82.0					19																	4171432		2203	4300	6503	4122432	SO:0001583	missense	84699	exon9				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1028G>A	19.37:g.4171432G>A	ENSP00000078445:p.Gly343Asp		4122432	NM_032607	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.994|0.994	-0.693182|-0.693182	0.03303|0.03303	.|.	.|.	ENSG00000060566|ENSG00000060566	ENST00000252587|ENST00000078445;ENST00000381943	T|D	0.77750|0.82619	-1.12|-1.63	4.68|4.68	1.1|1.1	0.20463|0.20463	.|.	.|0.843447	.|0.11054	.|N	.|0.604698	T|T	0.69151|0.69151	0.3079|0.3079	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.0;0.001;0.001	.|B;B;B	.|0.06405	.|0.0;0.002;0.001	T|T	0.51028|0.51028	-0.8757|-0.8757	7|10	0.87932|0.22706	D|T	0|0.39	-0.9737|-0.9737	3.4072|3.4072	0.07345|0.07345	0.1558:0.4306:0.3164:0.0972|0.1558:0.4306:0.3164:0.0972	.|.	.|341;342;343	.|B7ZL69;Q68CJ9-2;Q68CJ9	.|.;.;CR3L3_HUMAN	T|D	232|343;301	ENSP00000252587:A232T|ENSP00000078445:G343D	ENSP00000252587:A232T|ENSP00000078445:G343D	A|G	+|+	1|2	0|0	CREB3L3|CREB3L3	4122432|4122432	0.004000|0.004000	0.15560|0.15560	0.019000|0.019000	0.16419|0.16419	0.178000|0.178000	0.23041|0.23041	1.536000|1.536000	0.36072|0.36072	0.031000|0.031000	0.15407|0.15407	-0.270000|-0.270000	0.10280|0.10280	GCC|GGC		0.617	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
CREB3L3	84699	broad.mit.edu	37	19	4171821	4171821	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4171821C>T	ENST00000078445.2	+	10	1388	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	CREB3L3_ENST00000252587.3_3'UTR|CREB3L3_ENST00000602147.1_3'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S413L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S412L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	414					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)	p.S414L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCAATTCGACGGAGGAG	0.677																																					p.S414L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1241T	19						.						39.0	43.0	42.0					19																	4171821		2203	4296	6499	4122821	SO:0001583	missense	84699	exon10				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1241C>T	19.37:g.4171821C>T	ENSP00000078445:p.Ser414Leu		4122821	NM_032607	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.352141	0.24512	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83837	-1.77	3.83	-3.12	0.05282	.	2.409610	0.01449	N	0.015394	T	0.64649	0.2617	N	0.11560	0.145	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.52586	-0.8556	10	0.22706	T	0.39	-35.7196	4.1348	0.10166	0.0:0.3465:0.3335:0.3199	.	412;413;414	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	L	414;372	ENSP00000078445:S414L	ENSP00000078445:S414L	S	+	2	0	CREB3L3	4122821	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.266000	0.08631	-0.188000	0.10499	0.561000	0.74099	TCG		0.677	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
TYROBP	7305	broad.mit.edu	37	19	36398646	36398646	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36398646G>T	ENST00000262629.4	-	2	146	c.80C>A	c.(79-81)gCc>gAc	p.A27D	TYROBP_ENST00000424586.3_Intron|TYROBP_ENST00000589517.1_Missense_Mutation_p.A27D|TYROBP_ENST00000544690.2_Intron|TYROBP_ENST00000585901.2_Missense_Mutation_p.A27D	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	27					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.A27D(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCCTGGGCCTGGACAGG	0.597																																					p.A27D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C80A	19						.						47.0	47.0	47.0					19																	36398646		2203	4300	6503	41090486	SO:0001583	missense	7305	exon2			AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.80C>A	19.37:g.36398646G>T	ENSP00000262629:p.Ala27Asp		41090486	NM_003332	A8K2X0|F5H389|Q6FGA5|Q9UMT3	Missense_Mutation	SNP	ENST00000262629.4	37	CCDS12482.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279340	0.59758	.	.	ENSG00000011600	ENST00000262629;ENST00000424586	D	0.86297	-2.1	5.1	3.99	0.46301	.	0.418688	0.20067	N	0.099949	T	0.76962	0.4061	N	0.08118	0	0.80722	D	1	P;P	0.47762	0.9;0.9	P;P	0.44990	0.466;0.466	T	0.80551	-0.1332	10	0.87932	D	0	-21.8944	10.7109	0.45982	0.0:0.1932:0.8068:0.0	.	27;27	O43914-2;O43914	.;TYOBP_HUMAN	D	27	ENSP00000262629:A27D	ENSP00000262629:A27D	A	-	2	0	TYROBP	41090486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.091000	0.64505	2.365000	0.80145	0.467000	0.42956	GCC		0.597	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1		
WDR62	284403	broad.mit.edu	37	19	36575580	36575580	+	Missense_Mutation	SNP	G	G	A	rs147875659		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36575580G>A	ENST00000270301.7	+	12	1576	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	WDR62_ENST00000401500.2_Missense_Mutation_p.E526K			O43379	WDR62_HUMAN	WD repeat domain 62	526			E -> K (in MCPH2). {ECO:0000269|PubMed:20729831}.		cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E526K(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTCATGGACGAGCTGGTCAA	0.617																																					p.E526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	19						.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	103.0	86.0	92.0		1576,1576	5.2	1.0	19	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	WDR62	NM_001083961.1,NM_173636.4	56,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	526/1524,526/1519	36575580	3,13003	2203	4300	6503	41267420	SO:0001583	missense	284403	exon12			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1576G>A	19.37:g.36575580G>A	ENSP00000270301:p.Glu526Lys		41267420	NM_001083961	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073553	0.94000	2.27E-4	2.33E-4	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.57436	1.04;0.4	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	T	0.68731	-0.5331	10	0.24483	T	0.36	-28.9554	16.4688	0.84094	0.0:0.0:1.0:0.0	.	526;526	O43379-4;O43379	.;WDR62_HUMAN	K	526	ENSP00000384792:E526K;ENSP00000270301:E526K	ENSP00000270301:E526K	E	+	1	0	WDR62	41267420	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.272000	0.78516	2.558000	0.86282	0.561000	0.74099	GAG		0.617	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671	
ZNF565	147929	broad.mit.edu	37	19	36673447	36673447	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36673447G>A	ENST00000355114.5	-	5	2267	c.1541C>T	c.(1540-1542)cCt>cTt	p.P514L	ZNF565_ENST00000392173.2_Missense_Mutation_p.P474L|ZNF565_ENST00000304116.5_Missense_Mutation_p.P474L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	514					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.P474L(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACATTCGTAAGGTTTGATACC	0.423																																					p.P474L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421T	19						.						111.0	99.0	103.0					19																	36673447		2203	4300	6503	41365287	SO:0001583	missense	147929	exon5			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1541C>T	19.37:g.36673447G>A	ENSP00000347234:p.Pro514Leu		41365287	NM_152477	B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37		.	.	.	.	.	.	.	.	.	.	g	13.68	2.308797	0.40895	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.27557	1.66;1.66;1.66	4.81	4.81	0.61882	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003961	T	0.37785	0.1016	L	0.42686	1.345	0.41034	D	0.985172	P	0.50528	0.936	P	0.50490	0.642	T	0.17961	-1.0352	10	0.62326	D	0.03	.	15.8101	0.78552	0.0:0.0:1.0:0.0	.	474	Q8N9K5	ZN565_HUMAN	L	474;474;514	ENSP00000376013:P474L;ENSP00000306869:P474L;ENSP00000347234:P514L	ENSP00000306869:P474L	P	-	2	0	ZNF565	41365287	1.000000	0.71417	0.947000	0.38551	0.098000	0.18820	5.181000	0.65054	2.673000	0.90976	0.650000	0.86243	CCT		0.423	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
ZNF565	147929	broad.mit.edu	37	19	36685205	36685205	+	Silent	SNP	G	G	A	rs139103330	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36685205G>A	ENST00000355114.5	-	4	1008	c.282C>T	c.(280-282)gtC>gtT	p.V94V	ZNF565_ENST00000392173.2_Silent_p.V54V|ZNF565_ENST00000304116.5_Silent_p.V54V			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V54V(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ATAAGGAGACGACATCAGGCT	0.507													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18987	0.0		0.0	False		,,,				2504	0.0				p.V54V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	19						.	G	,	1,4405	2.1+/-5.4	0,1,2202	74.0	60.0	65.0		162,162	1.6	1.0	19	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF565	NM_001042474.1,NM_152477.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	54/500,54/500	36685205	1,13005	2203	4300	6503	41377045	SO:0001819	synonymous_variant	147929	exon4			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.282C>T	19.37:g.36685205G>A			41377045	NM_152477	B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37																																																																																					0.507	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
ZFP14	57677	broad.mit.edu	37	19	36831229	36831229	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36831229C>A	ENST00000270001.7	-	5	1614	c.1499G>T	c.(1498-1500)aGa>aTa	p.R500I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	500					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.R500I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGGTGTTG	0.388																																					p.R500I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499T	19						.						70.0	69.0	70.0					19																	36831229		2203	4300	6503	41523069	SO:0001583	missense	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1499G>T	19.37:g.36831229C>A	ENSP00000270001:p.Arg500Ile		41523069	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034027	0.54896	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.24908	1.83	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000243	T	0.48786	0.1519	M	0.76002	2.32	0.80722	D	1	D;D	0.62365	0.99;0.991	D;D	0.66497	0.94;0.944	T	0.52909	-0.8512	10	0.51188	T	0.08	.	15.22	0.73303	0.0:1.0:0.0:0.0	.	500;500	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	I	500	ENSP00000270001:R500I	ENSP00000270001:R500I	R	-	2	0	ZFP14	41523069	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.471000	0.22100	2.177000	0.69029	0.551000	0.68910	AGA		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZFP14	57677	broad.mit.edu	37	19	36831575	36831575	+	Missense_Mutation	SNP	G	G	A	rs571512137		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36831575G>A	ENST00000270001.7	-	5	1268	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	385					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.R385C(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCTGATGGCGAACTAGTTGT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22777	0.0		0.0	False		,,,				2504	0.001				p.R385C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1153T	19						.						109.0	101.0	104.0					19																	36831575		2203	4300	6503	41523415	SO:0001583	missense	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1153C>T	19.37:g.36831575G>A	ENSP00000270001:p.Arg385Cys		41523415	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331050	0.41297	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26660	1.72	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000513	T	0.44138	0.1279	M	0.75884	2.315	0.21325	N	0.999727	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	T	0.27191	-1.0081	10	0.59425	D	0.04	.	7.4247	0.27092	0.0:0.1812:0.632:0.1868	.	385;385	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	385	ENSP00000270001:R385C	ENSP00000270001:R385C	R	-	1	0	ZFP14	41523415	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.099000	0.11007	2.270000	0.75569	0.643000	0.83706	CGC		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZFP14	57677	broad.mit.edu	37	19	36832181	36832181	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36832181G>A	ENST00000270001.7	-	5	662	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	183					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.R183C(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GTTGAGCGACGAATAAAGGTC	0.403																																					p.R183C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	19						.						158.0	151.0	153.0					19																	36832181		2203	4300	6503	41524021	SO:0001583	missense	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.547C>T	19.37:g.36832181G>A	ENSP00000270001:p.Arg183Cys		41524021	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	9.322	1.058214	0.19987	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.36340	1.26	3.85	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000302	T	0.28732	0.0712	L	0.28458	0.855	0.20403	N	0.999909	D;D	0.69078	0.997;0.993	P;P	0.49708	0.62;0.519	T	0.06570	-1.0819	10	0.37606	T	0.19	.	6.1661	0.20390	0.1056:0.0:0.7051:0.1893	.	183;183	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	183	ENSP00000270001:R183C	ENSP00000270001:R183C	R	-	1	0	ZFP14	41524021	0.001000	0.12720	1.000000	0.80357	0.983000	0.72400	0.866000	0.27954	2.139000	0.66308	0.549000	0.68633	CGT		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZFP82	284406	broad.mit.edu	37	19	36883819	36883819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36883819C>T	ENST00000392161.3	-	5	1665	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	ZFP82_ENST00000392171.1_Missense_Mutation_p.E475K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	475					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.E475K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGGGTTTTTCGCCAGTATGA	0.383																																					p.E475K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1423A	19						.						92.0	90.0	90.0					19																	36883819		2203	4300	6503	41575659	SO:0001583	missense	284406	exon5			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1423G>A	19.37:g.36883819C>T	ENSP00000431265:p.Glu475Lys		41575659	NM_133466	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726789	0.69074	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.24350	1.86;1.86	4.2	4.2	0.49525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000718	T	0.43590	0.1254	L	0.48260	1.515	0.41362	D	0.987434	D	0.89917	1.0	D	0.91635	0.999	T	0.39542	-0.9609	10	0.66056	D	0.02	.	14.447	0.67359	0.0:1.0:0.0:0.0	.	475	Q8N141	ZFP82_HUMAN	K	475	ENSP00000431265:E475K;ENSP00000446080:E475K	ENSP00000431265:E475K	E	-	1	0	ZFP82	41575659	0.982000	0.34865	0.999000	0.59377	0.959000	0.62525	3.735000	0.55044	2.352000	0.79861	0.591000	0.81541	GAA		0.383	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZFP82	284406	broad.mit.edu	37	19	36898878	36898878	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:36898878G>T	ENST00000392161.3	-	3	289	c.47C>A	c.(46-48)tCt>tAt	p.S16Y	ZFP82_ENST00000392171.1_Missense_Mutation_p.S16Y	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S16Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCTTCTGGAGAGAAGTCTAT	0.398																																					p.S16Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C47A	19						.						125.0	109.0	114.0					19																	36898878		2203	4300	6503	41590718	SO:0001583	missense	284406	exon3			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.47C>A	19.37:g.36898878G>T	ENSP00000431265:p.Ser16Tyr		41590718	NM_133466	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352269	0.41700	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.02944	4.1;4.1	3.08	3.08	0.35506	Krueppel-associated box (4);	.	.	.	.	T	0.24928	0.0605	H	0.98866	4.355	0.33845	D	0.631987	D	0.71674	0.998	D	0.71414	0.973	T	0.54070	-0.8348	9	0.87932	D	0	.	9.8948	0.41311	0.0:0.0:1.0:0.0	.	16	Q8N141	ZFP82_HUMAN	Y	16	ENSP00000431265:S16Y;ENSP00000446080:S16Y	ENSP00000431265:S16Y	S	-	2	0	ZFP82	41590718	0.997000	0.39634	0.996000	0.52242	0.461000	0.32589	3.113000	0.50376	2.034000	0.60081	0.591000	0.81541	TCT		0.398	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZNF260	339324	broad.mit.edu	37	19	37006040	37006040	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37006040T>G	ENST00000523638.1	-	3	1222	c.101A>C	c.(100-102)aAa>aCa	p.K34T	ZNF260_ENST00000593142.1_Missense_Mutation_p.K34T|ZNF260_ENST00000588993.1_Missense_Mutation_p.K34T|ZNF260_ENST00000592282.1_Missense_Mutation_p.K34T	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	34					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K34T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GCTAAAAGTTTTTCTACATTC	0.378																																					p.K34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A101C	19						.						94.0	94.0	94.0					19																	37006040		2203	4300	6503	41697880	SO:0001583	missense	339324	exon3			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.101A>C	19.37:g.37006040T>G	ENSP00000429803:p.Lys34Thr		41697880	NM_001166037	Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	6.859	0.527758	0.13127	.	.	ENSG00000254004	ENST00000523638	T	0.27890	1.64	4.32	0.986	0.19784	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42314	0.1197	M	0.88105	2.93	0.24335	N	0.994988	B	0.26512	0.151	B	0.37888	0.26	T	0.51379	-0.8713	9	0.72032	D	0.01	.	4.268	0.10773	0.149:0.174:0.0:0.6771	.	34	Q3ZCT1	ZN260_HUMAN	T	34	ENSP00000429803:K34T	ENSP00000429803:K34T	K	-	2	0	ZNF260	41697880	0.944000	0.32072	0.000000	0.03702	0.007000	0.05969	3.200000	0.51051	0.003000	0.14656	-0.509000	0.04479	AAA		0.378	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756	
ZNF529	57711	broad.mit.edu	37	19	37038602	37038602	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37038602G>T	ENST00000591340.1	-	5	1016	c.858C>A	c.(856-858)ttC>ttA	p.F286L	ZNF529_ENST00000334116.7_Missense_Mutation_p.F181L	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F285L(1)|p.F286L(1)		breast(1)	1	Esophageal squamous(110;0.198)					ATTTCCCACAGAATGAGCATT	0.373																																					p.F286L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C858A	19						.						152.0	152.0	152.0					19																	37038602		1973	4201	6174	41730442	SO:0001583	missense	57711	exon6			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.858C>A	19.37:g.37038602G>T	ENSP00000465578:p.Phe286Leu		41730442	NM_001145649	K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381404	0.24944	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.52	-0.555	0.11807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.10733	0.035	0.09310	N	0.999995	P;P	0.36837	0.571;0.454	B;B	0.37780	0.168;0.258	T	0.17992	-1.0351	8	0.87932	D	0	.	0.813	0.01097	0.2326:0.3117:0.2756:0.18	.	181;253	Q6P280-2;Q6P280	.;ZN529_HUMAN	L	286	.	ENSP00000334695:F286L	F	-	3	2	ZNF529	41730442	.	.	0.635000	0.29338	0.669000	0.39330	.	.	0.157000	0.19338	0.591000	0.81541	TTC		0.373	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951	
ZNF382	84911	broad.mit.edu	37	19	37117998	37117998	+	Missense_Mutation	SNP	G	G	A	rs4439880		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37117998G>A	ENST00000292928.2	+	5	1312	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	ZNF382_ENST00000435416.1_Missense_Mutation_p.R399K|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.R399K|ZNF382_ENST00000423582.1_Missense_Mutation_p.R351K	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	400	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATCACCAGAGAACTCACACA	0.458																																					p.R400K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	19						.						95.0	93.0	94.0					19																	37117998		2203	4300	6503	41809838	SO:0001583	missense	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1199G>A	19.37:g.37117998G>A	ENSP00000292928:p.Arg400Lys		41809838	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516678	0.44763	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.02197	4.4;4.4;4.4;4.4	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000230	T	0.01940	0.0061	N	0.11892	0.195	0.30120	N	0.805805	B;B;B	0.29552	0.209;0.209;0.248	B;B;B	0.29862	0.066;0.066;0.108	T	0.37454	-0.9705	10	0.45353	T	0.12	.	14.5487	0.68050	0.0:0.0:1.0:0.0	rs4439880;rs4439880	399;399;400	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	K	351;400;399;399	ENSP00000389722:R351K;ENSP00000292928:R400K;ENSP00000407593:R399K;ENSP00000410113:R399K	ENSP00000292928:R400K	R	+	2	0	ZNF382	41809838	0.019000	0.18553	1.000000	0.80357	0.974000	0.67602	1.596000	0.36718	2.375000	0.81037	0.591000	0.81541	AGA		0.458	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF382	84911	broad.mit.edu	37	19	37118166	37118166	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37118166G>T	ENST00000292928.2	+	5	1480	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	ZNF382_ENST00000435416.1_Missense_Mutation_p.R455I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.R455I|ZNF382_ENST00000423582.1_Missense_Mutation_p.R407I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	456	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R456I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCCACCAGAGAATTCACACG	0.448																																					p.R456I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1367T	19						.						50.0	54.0	53.0					19																	37118166		2203	4300	6503	41810006	SO:0001583	missense	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1367G>T	19.37:g.37118166G>T	ENSP00000292928:p.Arg456Ile		41810006	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191384	0.58017	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000313	T	0.39436	0.1078	L	0.50333	1.59	0.46609	D	0.999129	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.68943	0.934;0.934;0.961	T	0.15925	-1.0420	10	0.66056	D	0.02	.	8.2048	0.31446	0.1086:0.0:0.8914:0.0	.	455;455;456	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	407;456;455;455	ENSP00000389722:R407I;ENSP00000292928:R456I;ENSP00000407593:R455I;ENSP00000410113:R455I	ENSP00000292928:R456I	R	+	2	0	ZNF382	41810006	0.213000	0.23551	1.000000	0.80357	0.984000	0.73092	2.689000	0.46993	2.375000	0.81037	0.591000	0.81541	AGA		0.448	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF790	388536	broad.mit.edu	37	19	37309700	37309700	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37309700G>T	ENST00000356725.4	-	5	1666	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	516					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.L516I(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACCCCAGAGAAAGGCTTTT	0.408																																					p.L516I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1546A	19						.						118.0	111.0	114.0					19																	37309700		2203	4300	6503	42001540	SO:0001583	missense	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1546C>A	19.37:g.37309700G>T	ENSP00000349161:p.Leu516Ile		42001540	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064993	0.08388	.	.	ENSG00000197863	ENST00000356725	T	0.06068	3.35	3.04	0.469	0.16741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.12920	0.275	0.09310	N	1	B	0.14012	0.009	B	0.19666	0.026	T	0.46679	-0.9174	9	0.23891	T	0.37	.	5.1103	0.14806	0.0:0.3169:0.3186:0.3645	.	516	Q6PG37	ZN790_HUMAN	I	516	ENSP00000349161:L516I	ENSP00000349161:L516I	L	-	1	0	ZNF790	42001540	0.000000	0.05858	0.833000	0.33012	0.982000	0.71751	-3.930000	0.00332	0.547000	0.28938	0.491000	0.48974	CTC		0.408	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37309819	37309819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37309819C>T	ENST00000356725.4	-	5	1547	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R476K(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCATAGTTTCTCTCACCAGT	0.368																																					p.R476K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	19						.						71.0	70.0	70.0					19																	37309819		2203	4300	6503	42001659	SO:0001583	missense	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1427G>A	19.37:g.37309819C>T	ENSP00000349161:p.Arg476Lys		42001659	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	2.686	-0.274281	0.05679	.	.	ENSG00000197863	ENST00000356725	T	0.12361	2.69	3.14	-1.43	0.08884	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	N	0.01424	-0.875	0.09310	N	0.999999	B	0.13594	0.008	B	0.14023	0.01	T	0.43956	-0.9359	9	0.02654	T	1	.	7.9304	0.29899	0.0:0.3969:0.0:0.6031	.	476	Q6PG37	ZN790_HUMAN	K	476	ENSP00000349161:R476K	ENSP00000349161:R476K	R	-	2	0	ZNF790	42001659	0.000000	0.05858	0.079000	0.20413	0.588000	0.36517	-0.757000	0.04772	-0.072000	0.12864	0.491000	0.48974	AGA		0.368	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37309942	37309942	+	Missense_Mutation	SNP	G	G	A	rs551820063		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37309942G>A	ENST00000356725.4	-	5	1424	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	435					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.S435L(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGCAAGATACGAAGCCCAAGT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		20656	0.0		0.0	False		,,,				2504	0.001				p.S435L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304T	19						.						92.0	93.0	92.0					19																	37309942		2203	4300	6503	42001782	SO:0001583	missense	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1304C>T	19.37:g.37309942G>A	ENSP00000349161:p.Ser435Leu		42001782	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094259	0.36952	.	.	ENSG00000197863	ENST00000356725	T	0.07444	3.19	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18800	0.0451	L	0.61218	1.895	0.09310	N	1	D	0.65815	0.995	P	0.53809	0.735	T	0.04294	-1.0962	9	0.56958	D	0.05	.	13.5234	0.61580	0.0:0.0:1.0:0.0	.	435	Q6PG37	ZN790_HUMAN	L	435	ENSP00000349161:S435L	ENSP00000349161:S435L	S	-	2	0	ZNF790	42001782	0.000000	0.05858	0.002000	0.10522	0.491000	0.33493	-0.130000	0.10498	1.753000	0.51906	0.491000	0.48974	TCG		0.413	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37310282	37310282	+	Nonsense_Mutation	SNP	G	G	A	rs147290327	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37310282G>A	ENST00000356725.4	-	5	1084	c.964C>T	c.(964-966)Cga>Tga	p.R322*	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R322*(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGATGTGATCGCTGACTAAAG	0.393													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		20278	0.0		0.0	False		,,,				2504	0.0				p.R322X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C964T	19						.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	36,4370	40.8+/-73.8	1,34,2168	55.0	58.0	57.0		964,964,964,964	-2.2	0.0	19	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	,,,	1,35,6467	AA,AG,GG		0.0116,0.8171,0.2845	,,,	322/637,322/637,322/637,322/637	37310282	37,12969	2203	4300	6503	42002122	SO:0001587	stop_gained	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.964C>T	19.37:g.37310282G>A	ENSP00000349161:p.Arg322*		42002122	NM_206894		Nonsense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	G	17.59	3.428399	0.62844	0.008171	1.16E-4	ENSG00000197863	ENST00000356725	.	.	.	2.97	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	7.024	0.24930	0.0:0.3657:0.3608:0.2735	.	.	.	.	X	322	.	ENSP00000349161:R322X	R	-	1	2	ZNF790	42002122	0.000000	0.05858	0.000000	0.03702	0.956000	0.61745	-0.761000	0.04751	-0.381000	0.07882	0.313000	0.20887	CGA		0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37310403	37310403	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37310403A>C	ENST00000356725.4	-	5	963	c.843T>G	c.(841-843)tcT>tcG	p.S281S	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S281S(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACATTCATAAGATTTCTCAC	0.373																																					p.S281S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T843G	19						.						54.0	56.0	55.0					19																	37310403		2203	4299	6502	42002243	SO:0001819	synonymous_variant	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.843T>G	19.37:g.37310403A>C			42002243	NM_206894		Silent	SNP	ENST00000356725.4	37	CCDS12496.1																																																																																				0.373	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF790	388536	broad.mit.edu	37	19	37314586	37314586	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37314586C>A	ENST00000356725.4	-	3	236	c.116G>T	c.(115-117)aGc>aTc	p.S39I	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S39I(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GACCATGTTGCTGTAGTTCTC	0.408																																					p.S39I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G116T	19						.						113.0	106.0	108.0					19																	37314586		2203	4300	6503	42006426	SO:0001583	missense	388536	exon3			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.116G>T	19.37:g.37314586C>A	ENSP00000349161:p.Ser39Ile		42006426	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849427	0.51270	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288;ENST00000527645	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	3.57	1.4	0.22301	Krueppel-associated box (4);	.	.	.	.	T	0.10551	0.0258	M	0.85777	2.775	0.27712	N	0.945412	D	0.69078	0.997	D	0.65874	0.939	T	0.04976	-1.0914	9	0.62326	D	0.03	.	7.0269	0.24944	0.0:0.7654:0.0:0.2346	.	39	Q6PG37	ZN790_HUMAN	I	39	ENSP00000349161:S39I;ENSP00000435944:S39I;ENSP00000433389:S39I;ENSP00000434537:S39I	ENSP00000349161:S39I	S	-	2	0	ZNF790	42006426	0.000000	0.05858	0.984000	0.44739	0.990000	0.78478	0.252000	0.18278	0.300000	0.22699	0.585000	0.79938	AGC		0.408	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF345	25850	broad.mit.edu	37	19	37368061	37368061	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37368061G>T	ENST00000529555.1	+	2	1117	c.329G>T	c.(328-330)aGa>aTa	p.R110I	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R110I|ZNF345_ENST00000589046.1_Missense_Mutation_p.R110I|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R110I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACCATCAAAGAATTCATACT	0.428																																					p.R110I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329T	19						.						65.0	67.0	66.0					19																	37368061		2203	4300	6503	42059901	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.329G>T	19.37:g.37368061G>T	ENSP00000431202:p.Arg110Ile		42059901	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116117	0.56505	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.24908	1.83;1.83;2.92	3.58	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22975	0.0555	M	0.70595	2.14	0.40828	D	0.983562	B	0.23854	0.092	B	0.12156	0.007	T	0.04708	-1.0932	8	.	.	.	.	5.8434	0.18647	0.1098:0.0:0.6982:0.192	.	110	Q14585	ZN345_HUMAN	I	110	ENSP00000431216:R110I;ENSP00000431202:R110I;ENSP00000331120:R110I	.	R	+	2	0	ZNF345	42059901	0.000000	0.05858	0.999000	0.59377	0.973000	0.67179	0.220000	0.17660	0.451000	0.26802	0.561000	0.74099	AGA		0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF345	25850	broad.mit.edu	37	19	37368733	37368733	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37368733G>T	ENST00000529555.1	+	2	1789	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R334I|ZNF345_ENST00000589046.1_Missense_Mutation_p.R334I|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	334					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R334I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAAAGAATGCATACT	0.408																																					p.R334I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1001T	19						.						71.0	77.0	75.0					19																	37368733		2203	4300	6503	42060573	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1001G>T	19.37:g.37368733G>T	ENSP00000431202:p.Arg334Ile		42060573	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199663	0.38905	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.02446	4.29;4.29	3.8	3.8	0.43715	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	L	0.48877	1.53	0.38566	D	0.949823	D	0.56521	0.976	P	0.48677	0.586	T	0.33904	-0.9850	9	0.87932	D	0	.	8.8822	0.35380	0.0:0.0:0.7767:0.2233	.	334	Q14585	ZN345_HUMAN	I	334;334;98	ENSP00000431216:R334I;ENSP00000431202:R334I	ENSP00000442320:R98I	R	+	2	0	ZNF345	42060573	0.005000	0.15991	1.000000	0.80357	0.887000	0.51463	1.437000	0.34991	2.092000	0.63282	0.462000	0.41574	AGA		0.408	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF345	25850	broad.mit.edu	37	19	37368919	37368919	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37368919G>T	ENST00000529555.1	+	2	1975	c.1187G>T	c.(1186-1188)aGa>aTa	p.R396I	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R396I|ZNF345_ENST00000589046.1_Missense_Mutation_p.R396I|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	396					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R396I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGTGAAAGACCCTATGAA	0.418																																					p.R396I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187T	19						.						83.0	79.0	80.0					19																	37368919		2203	4300	6503	42060759	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1187G>T	19.37:g.37368919G>T	ENSP00000431202:p.Arg396Ile		42060759	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755416	0.31046	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.20332	2.08;2.08	3.93	2.91	0.33838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32615	0.0835	M	0.90814	3.15	0.37278	D	0.907707	B	0.26041	0.14	B	0.32677	0.15	T	0.29488	-1.0010	9	0.87932	D	0	.	6.9575	0.24580	0.8815:0.0:0.1185:0.0	.	396	Q14585	ZN345_HUMAN	I	396;396;160	ENSP00000431216:R396I;ENSP00000431202:R396I	ENSP00000442320:R160I	R	+	2	0	ZNF345	42060759	0.141000	0.22595	0.981000	0.43875	0.733000	0.41908	0.545000	0.23268	0.669000	0.31146	-0.367000	0.07326	AGA		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF829	374899	broad.mit.edu	37	19	37382597	37382597	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37382597C>T	ENST00000391711.3	-	6	1460	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.E447K|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	366					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.E366K(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATAAGTTCTGAGCTCTGA	0.368																																					p.E366K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096A	19						.						71.0	74.0	73.0					19																	37382597		2195	4293	6488	42074437	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1096G>A	19.37:g.37382597C>T	ENSP00000429266:p.Glu366Lys		42074437	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	6.940	0.543156	0.13250	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.39229	1.09	3.05	1.6	0.23607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28200	0.0696	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.25710	-1.0124	9	0.15952	T	0.53	.	6.7447	0.23454	0.1769:0.4903:0.3329:0.0	.	366	Q3KNS6	ZN829_HUMAN	K	366	ENSP00000429266:E366K	ENSP00000429266:E366K	E	-	1	0	ZNF829	42074437	0.000000	0.05858	0.988000	0.46212	0.958000	0.62258	-4.900000	0.00172	0.511000	0.28236	0.557000	0.71058	GAA		0.368	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37383000	37383000	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37383000C>T	ENST00000391711.3	-	6	1057	c.693G>A	c.(691-693)caG>caA	p.Q231Q	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Silent_p.Q312Q|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	231					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.Q231Q(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATCCTCTGATGTTGAG	0.383																																					p.Q231Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693A	19						.						60.0	63.0	62.0					19																	37383000		2201	4297	6498	42074840	SO:0001819	synonymous_variant	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.693G>A	19.37:g.37383000C>T			42074840	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	CCDS42557.1																																																																																				0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37383266	37383266	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37383266G>T	ENST00000391711.3	-	6	791	c.427C>A	c.(427-429)Ctt>Att	p.L143I	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.L224I|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	143					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.L143I(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGGAATAAGAAATGTGGGC	0.338																																					p.L143I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C427A	19						.						62.0	55.0	58.0					19																	37383266		1857	4097	5954	42075106	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.427C>A	19.37:g.37383266G>T	ENSP00000429266:p.Leu143Ile		42075106	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	7.228	0.598824	0.13939	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.40756	1.02	3.34	-1.8	0.07907	.	.	.	.	.	T	0.48714	0.1515	M	0.70108	2.13	0.09310	N	1	P	0.52692	0.955	P	0.54544	0.755	T	0.41680	-0.9495	9	0.56958	D	0.05	.	4.8759	0.13656	0.2798:0.0:0.5721:0.1481	.	143	Q3KNS6	ZN829_HUMAN	I	143	ENSP00000429266:L143I	ENSP00000429266:L143I	L	-	1	0	ZNF829	42075106	0.159000	0.22864	0.003000	0.11579	0.050000	0.14768	1.126000	0.31344	-0.207000	0.10187	0.650000	0.86243	CTT		0.338	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37399238	37399238	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37399238C>A	ENST00000391711.3	-	4	584	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.V155L	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V74L(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTTACCCACTGAAACCAGG	0.408																																					p.V74L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220T	19						.						125.0	127.0	126.0					19																	37399238		2168	4280	6448	42091078	SO:0001583	missense	374899	exon4			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.220G>T	19.37:g.37399238C>A	ENSP00000429266:p.Val74Leu		42091078	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207728	0.06180	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01359	4.98	4.55	1.08	0.20341	Krueppel-associated box (4);	.	.	.	.	T	0.00440	0.0014	N	0.00595	-1.35	0.23043	N	0.99839	B	0.02656	0.0	B	0.06405	0.002	T	0.47235	-0.9133	9	0.02654	T	1	.	3.2799	0.06912	0.2077:0.5751:0.0:0.2172	.	74	Q3KNS6	ZN829_HUMAN	L	74	ENSP00000429266:V74L	ENSP00000429266:V74L	V	-	1	0	ZNF829	42091078	0.344000	0.24827	1.000000	0.80357	0.998000	0.95712	-0.150000	0.10189	0.657000	0.30906	0.591000	0.81541	GTG		0.408	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF829	374899	broad.mit.edu	37	19	37399331	37399331	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37399331C>A	ENST00000391711.3	-	4	491	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.D124Y	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D43Y(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGAGAAGTCTATGGAAACA	0.433																																					p.D43Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127T	19						.						103.0	102.0	103.0					19																	37399331		2137	4267	6404	42091171	SO:0001583	missense	374899	exon4			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.127G>T	19.37:g.37399331C>A	ENSP00000429266:p.Asp43Tyr		42091171	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847084	0.51164	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01887	4.58	4.47	3.41	0.39046	Krueppel-associated box (4);	.	.	.	.	T	0.04679	0.0127	L	0.57130	1.785	0.27620	N	0.948371	B	0.32893	0.389	B	0.43916	0.436	T	0.29150	-1.0021	9	0.45353	T	0.12	.	4.5143	0.11926	0.0:0.7717:0.0:0.2283	.	43	Q3KNS6	ZN829_HUMAN	Y	43	ENSP00000429266:D43Y	ENSP00000429266:D43Y	D	-	1	0	ZNF829	42091171	0.882000	0.30256	0.989000	0.46669	0.978000	0.69477	-0.074000	0.11450	1.067000	0.40740	0.591000	0.81541	GAC		0.433	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF568	374900	broad.mit.edu	37	19	37427721	37427721	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37427721G>T	ENST00000333987.7	+	5	715	c.209G>T	c.(208-210)aGa>aTa	p.R70I	ZNF568_ENST00000415168.1_Missense_Mutation_p.R6I|ZNF568_ENST00000455427.2_Missense_Mutation_p.R6I|ZNF568_ENST00000427117.1_Missense_Mutation_p.R70I	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R70I(1)|p.R6I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTGCTCAAAGAAACTTGTAT	0.413																																					p.R70I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G209T	19						.						108.0	108.0	108.0					19																	37427721		2203	4300	6503	42119561	SO:0001583	missense	374900	exon5			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.209G>T	19.37:g.37427721G>T	ENSP00000334685:p.Arg70Ile		42119561	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748799	0.69533	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000415168;ENST00000444991;ENST00000455427	T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07	4.69	2.52	0.30459	Krueppel-associated box (4);	0.000000	0.39274	N	0.001408	T	0.19886	0.0478	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.999;0.999	T	0.00724	-1.1593	10	0.87932	D	0	.	7.2825	0.26320	0.2058:0.0:0.7942:0.0	.	6;70;70	B4DS92;C9JZ58;Q3ZCX4	.;.;ZN568_HUMAN	I	70;70;6;70;6	ENSP00000407012:R70I;ENSP00000334685:R70I;ENSP00000394514:R6I;ENSP00000389794:R70I;ENSP00000413396:R6I	ENSP00000334685:R70I	R	+	2	0	ZNF568	42119561	0.961000	0.32948	1.000000	0.80357	0.937000	0.57800	1.416000	0.34759	1.191000	0.43056	0.655000	0.94253	AGA		0.413	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF568	374900	broad.mit.edu	37	19	37440504	37440504	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37440504A>G	ENST00000333987.7	+	7	955	c.449A>G	c.(448-450)gAa>gGa	p.E150G	ZNF568_ENST00000415168.1_Missense_Mutation_p.E86G|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	150					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.E150G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATAAAGGAAAAAGTCATT	0.353																																					p.E150G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A449G	19						.						68.0	62.0	64.0					19																	37440504		1812	4081	5893	42132344	SO:0001583	missense	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.449A>G	19.37:g.37440504A>G	ENSP00000334685:p.Glu150Gly		42132344	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.592890	0.28357	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	4.25	0.924	0.19418	.	0.199812	0.25025	N	0.033734	T	0.07279	0.0184	M	0.70275	2.135	0.09310	N	1	P	0.39782	0.688	B	0.24974	0.057	T	0.26815	-1.0092	10	0.48119	T	0.1	.	6.6131	0.22763	0.5864:0.0:0.4136:0.0	.	150	Q3ZCX4	ZN568_HUMAN	G	150;86	ENSP00000334685:E150G;ENSP00000394514:E86G	ENSP00000334685:E150G	E	+	2	0	ZNF568	42132344	0.000000	0.05858	0.288000	0.24862	0.973000	0.67179	0.094000	0.15107	0.230000	0.21059	0.533000	0.62120	GAA		0.353	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF568	374900	broad.mit.edu	37	19	37441468	37441468	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37441468G>T	ENST00000333987.7	+	7	1919	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ZNF568_ENST00000415168.1_Missense_Mutation_p.E407D|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	471					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.E471D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACTGGAGAGAAACCTTATG	0.393																																					p.E471D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1413T	19						.						53.0	59.0	57.0					19																	37441468		2202	4300	6502	42133308	SO:0001583	missense	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1413G>T	19.37:g.37441468G>T	ENSP00000334685:p.Glu471Asp		42133308	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867171	0.51588	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.26810	1.71;1.71	3.96	1.79	0.24919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34178	N	0.004189	T	0.34308	0.0893	L	0.33485	1.01	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.05099	-1.0906	10	0.66056	D	0.02	.	8.2081	0.31467	0.2044:0.0:0.7956:0.0	.	471	Q3ZCX4	ZN568_HUMAN	D	471;407	ENSP00000334685:E471D;ENSP00000394514:E407D	ENSP00000334685:E471D	E	+	3	2	ZNF568	42133308	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	0.861000	0.27885	0.448000	0.26722	0.467000	0.42956	GAG		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF568	374900	broad.mit.edu	37	19	37441756	37441756	+	Missense_Mutation	SNP	C	C	A	rs367876051		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37441756C>A	ENST00000333987.7	+	7	2207	c.1701C>A	c.(1699-1701)ttC>ttA	p.F567L	ZNF568_ENST00000415168.1_Missense_Mutation_p.F503L|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	567					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.F567L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTAAAGCCTTCTCTCGAATCT	0.393																																					p.F567L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1701A	19						.						73.0	81.0	78.0					19																	37441756		2181	4294	6475	42133596	SO:0001583	missense	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1701C>A	19.37:g.37441756C>A	ENSP00000334685:p.Phe567Leu		42133596	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135581	0.56828	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.46063	0.88;0.88	4.13	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37483	N	0.002076	T	0.62514	0.2434	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.63180	-0.6695	10	0.72032	D	0.01	.	8.3699	0.32408	0.0:0.3785:0.0:0.6215	.	567	Q3ZCX4	ZN568_HUMAN	L	567;503	ENSP00000334685:F567L;ENSP00000394514:F503L	ENSP00000334685:F567L	F	+	3	2	ZNF568	42133596	0.000000	0.05858	0.907000	0.35723	0.998000	0.95712	-1.860000	0.01656	-0.294000	0.08973	0.591000	0.81541	TTC		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF420	147923	broad.mit.edu	37	19	37619445	37619445	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37619445C>A	ENST00000337995.3	+	5	1767	c.1552C>A	c.(1552-1554)Ctt>Att	p.L518I	ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L518I(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTTCACATCTTTCCCAACA	0.413																																					p.L518I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1552A	19						.						88.0	85.0	86.0					19																	37619445		2203	4300	6503	42311285	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1552C>A	19.37:g.37619445C>A	ENSP00000338770:p.Leu518Ile		42311285	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447515	0.43429	.	.	ENSG00000197050	ENST00000337995	T	0.53857	0.6	4.32	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71178	0.3309	M	0.90145	3.09	0.20196	N	0.999927	P	0.51653	0.947	P	0.58266	0.836	T	0.61879	-0.6972	8	.	.	.	.	8.3135	0.32086	0.0:0.8059:0.0:0.1941	.	518	Q8TAQ5	ZN420_HUMAN	I	518	ENSP00000338770:L518I	.	L	+	1	0	ZNF420	42311285	0.040000	0.19996	0.840000	0.33206	0.998000	0.95712	0.414000	0.21164	1.029000	0.39812	0.655000	0.94253	CTT		0.413	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF420	147923	broad.mit.edu	37	19	37619881	37619881	+	Missense_Mutation	SNP	G	G	T	rs140027212		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37619881G>T	ENST00000337995.3	+	5	2203	c.1988G>T	c.(1987-1989)aGa>aTa	p.R663I	ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	663					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R663I(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATCAGAGAATTCATATC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21752	0.001		0.0	False		,,,				2504	0.0				p.R663I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1988T	19						.						86.0	87.0	86.0					19																	37619881		2203	4299	6502	42311721	SO:0001583	missense	147923	exon5			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1988G>T	19.37:g.37619881G>T	ENSP00000338770:p.Arg663Ile		42311721	NM_144689	B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	CCDS12498.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.89	1.773212	0.31411	.	.	ENSG00000197050	ENST00000337995	T	0.10005	2.92	4.46	-0.533	0.11887	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	M	0.78049	2.395	0.80722	D	1	B	0.24920	0.114	B	0.22880	0.042	T	0.11299	-1.0593	8	.	.	.	.	2.1726	0.03853	0.2501:0.13:0.4871:0.1327	.	663	Q8TAQ5	ZN420_HUMAN	I	663	ENSP00000338770:R663I	.	R	+	2	0	ZNF420	42311721	0.000000	0.05858	0.669000	0.29828	0.993000	0.82548	0.798000	0.27014	0.151000	0.19162	0.655000	0.94253	AGA		0.378	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	
ZNF585A	199704	broad.mit.edu	37	19	37642627	37642627	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37642627T>G	ENST00000356958.4	-	5	2432	c.2174A>C	c.(2173-2175)aAg>aCg	p.K725T	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K670T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K362T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K670T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K670T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTAAAGGCCTTCCCACACTC	0.463																																					p.K670T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2009C	19						.						188.0	151.0	164.0					19																	37642627		2203	4300	6503	42334467	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.2174A>C	19.37:g.37642627T>G	ENSP00000349440:p.Lys725Thr		42334467	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	T	17.34	3.364209	0.61513	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001472	T	0.24699	0.0599	.	.	.	0.23271	N	0.998005	D	0.89917	1.0	D	0.97110	1.0	T	0.01208	-1.1418	9	0.72032	D	0.01	.	10.6216	0.45483	0.0:0.0:0.0:1.0	.	725	Q6P3V2	Z585A_HUMAN	T	725;670;670;362	ENSP00000349440:K725T;ENSP00000292841:K670T;ENSP00000375998:K670T;ENSP00000347724:K362T	ENSP00000292841:K670T	K	-	2	0	ZNF585A	42334467	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	3.443000	0.52907	1.387000	0.46486	0.533000	0.62120	AAG		0.463	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585B	92285	broad.mit.edu	37	19	37676583	37676583	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37676583G>T	ENST00000532828.2	-	5	2107	c.1856C>A	c.(1855-1857)tCt>tAt	p.S619Y	ZNF585B_ENST00000531805.1_Missense_Mutation_p.S564Y|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S207Y|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S619Y(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGGAGCTGAGACTTGGAGGT	0.468																																					p.S619Y	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1856A	19						.						24.0	21.0	22.0					19																	37676583		2203	4297	6500	42368423	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1856C>A	19.37:g.37676583G>T	ENSP00000433773:p.Ser619Tyr		42368423	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005571	0.35415	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.37058	1.22;1.22;3.18	2.79	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36519	N	0.002551	T	0.53270	0.1786	M	0.80508	2.5	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.60012	0.867;0.867	T	0.46707	-0.9172	10	0.72032	D	0.01	.	9.6677	0.39994	0.0:0.0:0.7893:0.2107	.	564;619	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	564;619;207	ENSP00000436774:S564Y;ENSP00000433773:S619Y;ENSP00000442139:S207Y	ENSP00000442139:S207Y	S	-	2	0	ZNF585B	42368423	0.000000	0.05858	0.022000	0.16811	0.822000	0.46500	0.154000	0.16343	0.438000	0.26450	0.305000	0.20034	TCT		0.468	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
ZNF585B	92285	broad.mit.edu	37	19	37677386	37677386	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37677386C>A	ENST00000532828.2	-	5	1304	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E296D|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E351D(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGAAGATTTCTCTCTACTTT	0.398																																					p.E351D	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1053T	19						.						121.0	116.0	118.0					19																	37677386		2203	4300	6503	42369226	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1053G>T	19.37:g.37677386C>A	ENSP00000433773:p.Glu351Asp		42369226	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964189	0.34659	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.37058	1.22;1.22	2.93	0.652	0.17823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001847	T	0.45994	0.1370	L	0.54908	1.71	0.80722	D	1	D;P	0.56746	0.977;0.776	D;P	0.65140	0.932;0.734	T	0.35126	-0.9801	10	0.72032	D	0.01	.	6.7454	0.23458	0.0:0.7429:0.0:0.2571	.	296;351	E9PQH3;Q52M93	.;Z585B_HUMAN	D	296;351	ENSP00000436774:E296D;ENSP00000433773:E351D	ENSP00000436774:E296D	E	-	3	2	ZNF585B	42369226	0.954000	0.32549	0.958000	0.39756	0.518000	0.34316	0.689000	0.25437	0.099000	0.17552	-0.391000	0.06502	GAG		0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
ZNF585B	92285	broad.mit.edu	37	19	37677473	37677473	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37677473T>G	ENST00000532828.2	-	5	1217	c.966A>C	c.(964-966)agA>agC	p.R322S	ZNF585B_ENST00000531805.1_Missense_Mutation_p.R267S|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R322S(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGGCTTCACTCTTGTGTGAA	0.373																																					p.R322S	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A966C	19						.						207.0	190.0	196.0					19																	37677473		2203	4297	6500	42369313	SO:0001583	missense	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.966A>C	19.37:g.37677473T>G	ENSP00000433773:p.Arg322Ser		42369313	NM_152279	Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	3.861	-0.029952	0.07543	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.52754	0.65;0.65	2.71	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000981	T	0.41166	0.1147	L	0.33245	0.995	0.80722	D	1	B;D	0.58970	0.269;0.984	B;P	0.51266	0.038;0.664	T	0.33599	-0.9862	10	0.72032	D	0.01	.	5.5829	0.17260	0.0:0.1405:0.0:0.8595	.	267;322	E9PQH3;Q52M93	.;Z585B_HUMAN	S	267;322	ENSP00000436774:R267S;ENSP00000433773:R322S	ENSP00000436774:R267S	R	-	3	2	ZNF585B	42369313	0.000000	0.05858	0.052000	0.19188	0.003000	0.03518	-0.114000	0.10757	1.228000	0.43614	0.374000	0.22700	AGA		0.373	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
TMIGD2	126259	broad.mit.edu	37	19	4298048	4298048	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4298048G>A	ENST00000301272.2	-	2	386	c.341C>T	c.(340-342)gCg>gTg	p.A114V	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.A114V|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	114	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.A114V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTACGGCCGCCCAGCACAC	0.662																																					p.A114V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	19						.						81.0	89.0	86.0					19																	4298048		2203	4300	6503	4249048	SO:0001583	missense	126259	exon2			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.341C>T	19.37:g.4298048G>A	ENSP00000301272:p.Ala114Val		4249048	NM_001169126	Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896254	0.02472	.	.	ENSG00000167664	ENST00000301272	T	0.14893	2.47	4.09	-5.9	0.02275	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.17852	0.019;0.024	B;B	0.17433	0.011;0.018	T	0.46610	-0.9179	9	0.08837	T	0.75	.	11.3834	0.49771	0.7542:0.0:0.2458:0.0	.	114;114	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	V	114	ENSP00000301272:A114V	ENSP00000301272:A114V	A	-	2	0	TMIGD2	4249048	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.101000	0.03336	-0.937000	0.03719	-0.678000	0.03780	GCG		0.662	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615	
ZNF585B	92285	broad.mit.edu	37	19	37677556	37677556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37677556C>A	ENST00000532828.2	-	5	1134	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.E240*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E295*(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGGTTTTTCTCCACTATGA	0.413																																					p.E295X	Melanoma(93;882 1454 18863 28917 48427)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G883T	19						.						244.0	233.0	237.0					19																	37677556		2203	4300	6503	42369396	SO:0001587	stop_gained	92285	exon5			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.883G>T	19.37:g.37677556C>A	ENSP00000433773:p.Glu295*		42369396	NM_152279	Q8IZD3|Q96JW6	Nonsense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359907	0.95877	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	.	.	.	2.71	2.71	0.32032	.	0.000000	0.38605	N	0.001629	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.5143	0.56024	0.0:1.0:0.0:0.0	.	.	.	.	X	240;295	.	ENSP00000436774:E240X	E	-	1	0	ZNF585B	42369396	1.000000	0.71417	0.936000	0.37596	0.021000	0.10359	4.096000	0.57734	1.501000	0.48654	0.455000	0.32223	GAA		0.413	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279	
HKR1	284459	broad.mit.edu	37	19	37853675	37853675	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37853675G>T	ENST00000324411.4	+	6	1247	c.978G>T	c.(976-978)gaG>gaT	p.E326D	HKR1_ENST00000591471.1_Missense_Mutation_p.E53D|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.E53D|HKR1_ENST00000541583.2_Missense_Mutation_p.E265D|HKR1_ENST00000589392.1_Missense_Mutation_p.E308D|HKR1_ENST00000392153.3_Missense_Mutation_p.E307D	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	326					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E326D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCAGGGGAGAAACCTTATG	0.512																																					p.E326D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G978T	19						.						103.0	99.0	100.0					19																	37853675		2203	4300	6503	42545515	SO:0001583	missense	284459	exon6			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.978G>T	19.37:g.37853675G>T	ENSP00000315505:p.Glu326Asp		42545515	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747310	0.49257	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.05	2.0	0.26442	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38639	0.1048	L	0.45470	1.425	0.80722	D	1	B;D;B;D	0.71674	0.202;0.998;0.11;0.994	B;D;B;D	0.71184	0.376;0.972;0.244;0.949	T	0.14035	-1.0487	9	0.87932	D	0	-17.7737	9.0176	0.36179	0.1152:0.0:0.8848:0.0	.	265;307;326;308	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	D	53;307;362;326;265	ENSP00000437774:E53D;ENSP00000375994:E307D;ENSP00000315505:E326D;ENSP00000438261:E265D	ENSP00000315505:E326D	E	+	3	2	HKR1	42545515	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	2.242000	0.43106	0.611000	0.30052	0.650000	0.86243	GAG		0.512	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
FSD1	79187	broad.mit.edu	37	19	4305965	4305965	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4305965A>C	ENST00000221856.6	+	2	185	c.38A>C	c.(37-39)aAa>aCa	p.K13T	FSD1_ENST00000597590.1_Missense_Mutation_p.K13T	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	13					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.K13T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGATCATCAAAACACTGGCT	0.527																																					p.K13T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A38C	19						.						142.0	129.0	133.0					19																	4305965		2203	4300	6503	4256965	SO:0001583	missense	79187	exon2			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.38A>C	19.37:g.4305965A>C	ENSP00000221856:p.Lys13Thr		4256965	NM_024333	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	A	0.411	-0.913407	0.02415	.	.	ENSG00000105255	ENST00000221856	T	0.40476	1.03	4.22	3.18	0.36537	B-box, C-terminal (1);	0.218384	0.37348	N	0.002132	T	0.08980	0.0222	N	0.00146	-1.995	0.21652	N	0.999605	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.02654	T	1	.	11.0699	0.47997	0.1894:0.8106:0.0:0.0	.	13	Q9BTV5	FSD1_HUMAN	T	13	ENSP00000221856:K13T	ENSP00000221856:K13T	K	+	2	0	FSD1	4256965	0.996000	0.38824	0.708000	0.30435	0.455000	0.32408	3.422000	0.52749	0.771000	0.33359	-0.369000	0.07265	AAA		0.527	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
HKR1	284459	broad.mit.edu	37	19	37854384	37854384	+	Missense_Mutation	SNP	C	C	T	rs552933332		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37854384C>T	ENST00000324411.4	+	6	1956	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W	HKR1_ENST00000591471.1_Missense_Mutation_p.R290W|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.R290W|HKR1_ENST00000541583.2_Missense_Mutation_p.R502W|HKR1_ENST00000589392.1_Missense_Mutation_p.R545W|HKR1_ENST00000392153.3_Missense_Mutation_p.R544W	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	563					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R563W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAAGGTTTCGGCAGAAGCC	0.493																																					p.R563W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1687T	19						.						53.0	48.0	50.0					19																	37854384		2203	4300	6503	42546224	SO:0001583	missense	284459	exon6			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1687C>T	19.37:g.37854384C>T	ENSP00000315505:p.Arg563Trp		42546224	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669051	0.29604	.	.	ENSG00000181666	ENST00000544914;ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	2.77	-0.82	0.10826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29321	0.0730	M	0.77616	2.38	0.09310	N	1	D;D;P;D	0.67145	0.996;0.995;0.741;0.983	P;P;B;P	0.58970	0.849;0.764;0.105;0.571	T	0.16424	-1.0403	9	0.72032	D	0.01	.	1.6277	0.02726	0.3892:0.3472:0.1077:0.156	.	502;544;563;545	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	W	290;342;544;599;563;502	ENSP00000437774:R290W;ENSP00000375994:R544W;ENSP00000315505:R563W;ENSP00000438261:R502W	ENSP00000315505:R563W	R	+	1	2	HKR1	42546224	0.000000	0.05858	0.289000	0.24876	0.899000	0.52679	-0.301000	0.08232	-0.247000	0.09597	-0.271000	0.10264	CGG		0.493	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
ZNF569	148266	broad.mit.edu	37	19	37903515	37903515	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37903515C>A	ENST00000316950.6	-	6	2602	c.2045G>T	c.(2044-2046)aGa>aTa	p.R682I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R682I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R523I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	682					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.R682I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCTGGTGTCT	0.408																																					p.R682I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2045T	19						.						102.0	104.0	103.0					19																	37903515		2203	4300	6503	42595355	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2045G>T	19.37:g.37903515C>A	ENSP00000325018:p.Arg682Ile		42595355	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996016	0.74703	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.32753	1.44;2.21	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36519	N	0.002551	T	0.48352	0.1495	M	0.70903	2.155	0.58432	D	0.999994	P;P	0.52842	0.658;0.956	B;P	0.59948	0.149;0.866	T	0.50440	-0.8828	10	0.66056	D	0.02	.	11.02	0.47711	0.1867:0.8133:0.0:0.0	.	523;682	Q17RR6;Q5MCW4	.;ZN569_HUMAN	I	682;338;523	ENSP00000325018:R682I;ENSP00000375993:R523I	ENSP00000325018:R682I	R	-	2	0	ZNF569	42595355	0.033000	0.19621	1.000000	0.80357	0.996000	0.88848	0.795000	0.26972	2.295000	0.77249	0.563000	0.77884	AGA		0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37904523	37904523	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37904523C>A	ENST00000316950.6	-	6	1594	c.1037G>T	c.(1036-1038)aGa>aTa	p.R346I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R346I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R187I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	346					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.R346I(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGACTTCTCATATGAAG	0.373																																					p.R346I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037T	19						.						105.0	102.0	103.0					19																	37904523		2203	4300	6503	42596363	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1037G>T	19.37:g.37904523C>A	ENSP00000325018:p.Arg346Ile		42596363	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599629	0.46318	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.24908	1.83;1.83	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36200	N	0.002721	T	0.46444	0.1393	M	0.75777	2.31	0.31897	N	0.616467	D;D	0.69078	0.997;0.997	D;D	0.64776	0.929;0.929	T	0.57021	-0.7882	10	0.54805	T	0.06	.	11.9001	0.52678	0.0:0.8219:0.1781:0.0	.	187;346	Q17RR6;Q5MCW4	.;ZN569_HUMAN	I	346;2;187	ENSP00000325018:R346I;ENSP00000375993:R187I	ENSP00000325018:R346I	R	-	2	0	ZNF569	42596363	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.754000	0.26390	2.204000	0.70986	0.655000	0.94253	AGA		0.373	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37904973	37904973	+	Missense_Mutation	SNP	T	T	G	rs532445392		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37904973T>G	ENST00000316950.6	-	6	1144	c.587A>C	c.(586-588)aAt>aCt	p.N196T	ZNF569_ENST00000392149.2_Missense_Mutation_p.N196T|ZNF569_ENST00000392150.2_Missense_Mutation_p.N37T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	196					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.N196T(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAAGTCTGATTGAAGCCTTT	0.378																																					p.N196T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A587C	19						.						69.0	69.0	69.0					19																	37904973		2203	4300	6503	42596813	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.587A>C	19.37:g.37904973T>G	ENSP00000325018:p.Asn196Thr		42596813	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	3.773	-0.047323	0.07407	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.26810	1.71;3.19	3.73	-4.3	0.03710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.218610	0.06049	N	0.656322	T	0.13543	0.0328	N	0.11106	0.095	0.09310	N	1	B;B	0.16603	0.018;0.0	B;B	0.14578	0.011;0.0	T	0.32981	-0.9886	10	0.23891	T	0.37	.	12.6716	0.56870	0.0:0.7009:0.0:0.2991	.	37;196	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	196;37	ENSP00000325018:N196T;ENSP00000375993:N37T	ENSP00000325018:N196T	N	-	2	0	ZNF569	42596813	0.000000	0.05858	0.016000	0.15963	0.975000	0.68041	-1.227000	0.02950	-0.898000	0.03906	0.482000	0.46254	AAT		0.378	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF570	148268	broad.mit.edu	37	19	37975237	37975237	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37975237G>A	ENST00000330173.1	+	5	1242	c.713G>A	c.(712-714)aGa>aAa	p.R238K	ZNF570_ENST00000388801.3_Missense_Mutation_p.R35K|ZNF570_ENST00000586475.1_Missense_Mutation_p.R294K	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	238					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.R238K(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCATCAAAGAATTCATACT	0.388																																					p.R238K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	19						.						86.0	99.0	95.0					19																	37975237		2203	4300	6503	42667077	SO:0001583	missense	148268	exon5			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.713G>A	19.37:g.37975237G>A	ENSP00000331540:p.Arg238Lys		42667077	NM_144694	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262798	0.59431	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.18338	2.22;2.22	4.35	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.359457	0.20424	N	0.092606	T	0.27454	0.0674	N	0.25485	0.75	0.30023	N	0.814201	D;D	0.63880	0.993;0.99	D;D	0.75484	0.986;0.975	T	0.02958	-1.1089	10	0.52906	T	0.07	.	13.8309	0.63380	0.0:0.1553:0.8447:0.0	.	35;238	B4DMP1;Q96NI8	.;ZN570_HUMAN	K	238;35	ENSP00000331540:R238K;ENSP00000373453:R35K	ENSP00000331540:R238K	R	+	2	0	ZNF570	42667077	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	1.096000	0.30976	2.410000	0.81850	0.563000	0.77884	AGA		0.388	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
ZNF570	148268	broad.mit.edu	37	19	37975505	37975505	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37975505G>T	ENST00000330173.1	+	5	1510	c.981G>T	c.(979-981)gaG>gaT	p.E327D	ZNF570_ENST00000388801.3_Missense_Mutation_p.E124D|ZNF570_ENST00000586475.1_Missense_Mutation_p.E383D	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	327					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.E327D(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACGGGAGAGAAACCCTATG	0.428																																					p.E327D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G981T	19						.						93.0	88.0	90.0					19																	37975505		2203	4300	6503	42667345	SO:0001583	missense	148268	exon5			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.981G>T	19.37:g.37975505G>T	ENSP00000331540:p.Glu327Asp		42667345	NM_144694	A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805621	0.70682	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.26810	1.71;1.71	4.18	3.14	0.36123	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000608	T	0.35480	0.0933	L	0.43923	1.385	0.32676	N	0.516187	D;B	0.53312	0.959;0.235	P;B	0.59171	0.853;0.137	T	0.44143	-0.9347	10	0.59425	D	0.04	.	11.5514	0.50723	0.0961:0.0:0.9039:0.0	.	124;327	B4DMP1;Q96NI8	.;ZN570_HUMAN	D	327;124	ENSP00000331540:E327D;ENSP00000373453:E124D	ENSP00000331540:E327D	E	+	3	2	ZNF570	42667345	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.510000	0.45468	2.317000	0.78254	0.563000	0.77884	GAG		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
ZNF570	148268	broad.mit.edu	37	19	37975755	37975755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:37975755G>T	ENST00000330173.1	+	5	1760	c.1231G>T	c.(1231-1233)Gaa>Taa	p.E411*	ZNF570_ENST00000388801.3_Nonsense_Mutation_p.E208*|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.E467*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E411*(1)		endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGAGAAAAACCTTA	0.423																																					p.E411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1231T	19						.						80.0	83.0	82.0					19																	37975755		2203	4300	6503	42667595	SO:0001587	stop_gained	148268	exon5			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1231G>T	19.37:g.37975755G>T	ENSP00000331540:p.Glu411*		42667595	NM_144694	A1L472|B4DMP1	Nonsense_Mutation	SNP	ENST00000330173.1	37	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	42	9.621044	0.99221	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	.	.	.	4.11	4.11	0.48088	.	0.164075	0.29028	N	0.013379	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.64	0.76989	0.0:0.0:1.0:0.0	.	.	.	.	X	411;208	.	ENSP00000331540:E411X	E	+	1	0	ZNF570	42667595	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.687000	0.91255	2.282000	0.76494	0.462000	0.41574	GAA		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
ZNF793	390927	broad.mit.edu	37	19	38028458	38028458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38028458G>T	ENST00000587143.1	+	6	1133	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	ZNF793_ENST00000542455.1_Nonsense_Mutation_p.E300*|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Nonsense_Mutation_p.E300*|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E300*(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACCGCACAGAACATCAGAG	0.443																																					p.E300X	Melanoma(44;400 1431 1499 19093)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G898T	19						.						73.0	81.0	79.0					19																	38028458		2175	4286	6461	42720298	SO:0001587	stop_gained	390927	exon8			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.898G>T	19.37:g.38028458G>T	ENSP00000468605:p.Glu300*		42720298	NM_001013659	E9PGN4|Q7Z3Q9	Nonsense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	37	6.141587	0.97320	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	.	.	.	3.83	2.68	0.31781	.	0.000000	0.38436	N	0.001689	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	3.6281	0.08121	0.2133:0.2232:0.5634:0.0	.	.	.	.	X	300;300;300;299	.	ENSP00000318811:E299X	E	+	1	0	ZNF793	42720298	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.167000	0.03126	2.117000	0.64856	0.637000	0.83480	GAA		0.443	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659	
STAP2	55620	broad.mit.edu	37	19	4327184	4327184	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4327184C>T	ENST00000594605.1	-	8	823	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000600324.1_Missense_Mutation_p.V234M	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	234	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V234M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTATGCGACACGAAATAGTTG	0.612																																					p.V234M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	19						.						82.0	77.0	79.0					19																	4327184		2203	4300	6503	4278184	SO:0001583	missense	55620	exon8			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.700G>A	19.37:g.4327184C>T	ENSP00000471052:p.Val234Met		4278184	NM_001013841	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973309	0.53614	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.09	3.83	0.44106	SH2 motif (2);	0.062468	0.64402	D	0.000007	T	0.67608	0.2911	L	0.58810	1.83	0.38720	D	0.953427	D;D	0.76494	0.997;0.999	P;D	0.67900	0.905;0.954	T	0.72010	-0.4419	9	0.87932	D	0	-17.5017	9.4156	0.38519	0.0:0.8842:0.0:0.1158	.	234;234	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	M	234	.	ENSP00000317912:V234M	V	-	1	0	STAP2	4278184	0.995000	0.38212	0.991000	0.47740	0.418000	0.31294	3.064000	0.49986	2.377000	0.81083	0.555000	0.69702	GTG		0.612	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	
ZNF571	51276	broad.mit.edu	37	19	38056602	38056602	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38056602C>A	ENST00000328550.2	-	4	827	c.728G>T	c.(727-729)aGa>aTa	p.R243I	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R243I|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R243I|ZNF571_ENST00000451802.2_Missense_Mutation_p.R243I			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	243					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.R243I(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGAACTCTCTGATGTTC	0.353																																					p.R243I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728T	19						.						68.0	66.0	67.0					19																	38056602		2203	4299	6502	42748442	SO:0001583	missense	51276	exon4			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.728G>T	19.37:g.38056602C>A	ENSP00000333660:p.Arg243Ile		42748442	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121817	0.56613	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24908	1.83;1.83;1.83	3.75	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24392	0.0591	M	0.66297	2.02	0.36747	D	0.882548	B	0.31599	0.33	B	0.29524	0.103	T	0.14839	-1.0458	9	0.87932	D	0	.	6.855	0.24036	0.1746:0.7266:0.0:0.0988	.	243	Q7Z3V5	ZN571_HUMAN	I	243	ENSP00000333660:R243I;ENSP00000392638:R243I;ENSP00000351594:R243I	ENSP00000333660:R243I	R	-	2	0	ZNF571	42748442	0.000000	0.05858	0.063000	0.19743	0.976000	0.68499	-0.716000	0.04991	0.239000	0.21243	0.313000	0.20887	AGA		0.353	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
ZNF540	163255	broad.mit.edu	37	19	38102729	38102729	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38102729C>A	ENST00000592533.1	+	5	880	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	ZNF540_ENST00000589117.1_Missense_Mutation_p.S151Y|ZNF540_ENST00000316433.4_Missense_Mutation_p.S183Y|ZNF540_ENST00000343599.5_Missense_Mutation_p.S183Y|ZNF540_ENST00000586792.1_3'UTR	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	183					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S183Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAATAGATTCTGATGTGAAA	0.348																																					p.S183Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C548A	19						.						58.0	58.0	58.0					19																	38102729		2203	4298	6501	42794569	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.548C>A	19.37:g.38102729C>A	ENSP00000466274:p.Ser183Tyr		42794569	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957278	0.18507	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.09350	2.99	1.93	1.93	0.25924	.	.	.	.	.	T	0.12263	0.0298	L	0.57536	1.79	0.09310	N	1	P;P	0.40197	0.706;0.582	B;B	0.37888	0.26;0.133	T	0.14090	-1.0485	9	0.66056	D	0.02	.	9.4299	0.38604	0.0:1.0:0.0:0.0	.	151;183	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	Y	183;151	ENSP00000324598:S183Y	ENSP00000324598:S183Y	S	+	2	0	ZNF540	42794569	0.551000	0.26497	0.004000	0.12327	0.269000	0.26545	0.878000	0.28126	1.053000	0.40415	0.313000	0.20887	TCT		0.348	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZNF540	163255	broad.mit.edu	37	19	38103703	38103703	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38103703T>G	ENST00000592533.1	+	5	1854	c.1522T>G	c.(1522-1524)Ttc>Gtc	p.F508V	ZNF540_ENST00000589117.1_Missense_Mutation_p.F476V|ZNF540_ENST00000316433.4_Missense_Mutation_p.F508V|ZNF540_ENST00000343599.5_Missense_Mutation_p.F508V	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	508					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.F508V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGATTTGGTTTCTACCTTAC	0.378																																					p.F508V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1522G	19						.						84.0	87.0	86.0					19																	38103703		2203	4300	6503	42795543	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1522T>G	19.37:g.38103703T>G	ENSP00000466274:p.Phe508Val		42795543	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119855	0.37436	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.46063	3.19;0.88	2.39	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21509	0.0518	N	0.16478	0.41	0.09310	N	1	B;B	0.34147	0.438;0.311	B;B	0.29663	0.105;0.065	T	0.14755	-1.0461	9	0.54805	T	0.06	.	3.9402	0.09323	0.1975:0.0:0.2:0.6025	.	476;508	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	V	508;476	ENSP00000324598:F508V;ENSP00000343768:F476V	ENSP00000324598:F508V	F	+	1	0	ZNF540	42795543	0.000000	0.05858	0.002000	0.10522	0.981000	0.71138	0.216000	0.17585	1.081000	0.41110	0.254000	0.18369	TTC		0.378	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZNF540	163255	broad.mit.edu	37	19	38104066	38104066	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38104066C>A	ENST00000592533.1	+	5	2217	c.1885C>A	c.(1885-1887)Cac>Aac	p.H629N	ZNF540_ENST00000589117.1_Missense_Mutation_p.H597N|ZNF540_ENST00000316433.4_Missense_Mutation_p.H629N|ZNF540_ENST00000343599.5_Missense_Mutation_p.H629N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	629					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.H629N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCACACTGGTGA	0.343																																					p.H629N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1885A	19						.						41.0	42.0	42.0					19																	38104066		2203	4300	6503	42795906	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1885C>A	19.37:g.38104066C>A	ENSP00000466274:p.His629Asn		42795906	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915370	0.73098	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;D	0.86865	-0.26;-2.18	2.8	0.395	0.16304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93785	0.8013	H	0.95574	3.69	0.23616	N	0.997282	P;P	0.51449	0.933;0.945	P;P	0.61940	0.833;0.896	D	0.85611	0.1258	9	0.87932	D	0	.	7.674	0.28476	0.0:0.7648:0.0:0.2352	.	597;629	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	629;597	ENSP00000324598:H629N;ENSP00000343768:H597N	ENSP00000324598:H629N	H	+	1	0	ZNF540	42795906	0.011000	0.17503	0.001000	0.08648	0.871000	0.50021	0.546000	0.23284	-0.113000	0.11958	0.305000	0.20034	CAC		0.343	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZFP30	22835	broad.mit.edu	37	19	38125901	38125901	+	Missense_Mutation	SNP	C	C	T	rs144294637	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38125901C>T	ENST00000351218.2	-	6	2098	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	ZFP30_ENST00000514101.2_Missense_Mutation_p.R514Q|ZFP30_ENST00000392144.1_Missense_Mutation_p.R514Q|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R514Q(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGAATTCGCTGATGGTA	0.333																																					p.R514Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1541A	19						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	57.0		1541	4.1	1.0	19	dbSNP_134	57	3,8595	3.0+/-9.4	0,3,4296	yes	missense	ZFP30	NM_014898.2	43	0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308	possibly-damaging	514/520	38125901	4,13000	2203	4299	6502	42817741	SO:0001583	missense	22835	exon6			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1541G>A	19.37:g.38125901C>T	ENSP00000343581:p.Arg514Gln		42817741	NM_014898	Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602021	0.46423	2.27E-4	3.49E-4	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.35789	1.29;1.29;1.29	4.05	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.414870	0.14693	N	0.304017	T	0.30230	0.0758	L	0.58101	1.795	0.31142	N	0.706531	P;P	0.48694	0.914;0.914	B;B	0.29716	0.106;0.106	T	0.50783	-0.8787	10	0.66056	D	0.02	.	14.0653	0.64824	0.0:1.0:0.0:0.0	.	514;514	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	Q	514;514;514;429	ENSP00000343581:R514Q;ENSP00000422930:R514Q;ENSP00000375988:R514Q	ENSP00000343581:R514Q	R	-	2	0	ZFP30	42817741	0.009000	0.17119	1.000000	0.80357	0.976000	0.68499	0.569000	0.23638	2.249000	0.74217	0.585000	0.79938	CGA		0.333	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
ZNF781	163115	broad.mit.edu	37	19	38160305	38160305	+	Nonsense_Mutation	SNP	C	C	A	rs141004896		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38160305C>A	ENST00000590008.1	-	5	1597	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Nonsense_Mutation_p.E249*|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	249					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.E249*(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCTCTGATGTCT	0.363																																					p.E249X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G745T	19						.	C	stop/GLU	0,4406		0,0,2203	61.0	65.0	64.0		745	-0.1	0.0	19	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ZNF781	NM_152605.3		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		249/328	38160305	1,13005	2203	4300	6503	42852145	SO:0001587	stop_gained	163115	exon4			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.745G>T	19.37:g.38160305C>A	ENSP00000466370:p.Glu249*		42852145	NM_152605	Q2VPJ8	Nonsense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	38	6.708432	0.97780	0.0	1.16E-4	ENSG00000196381	ENST00000358582;ENST00000545586	.	.	.	2.29	-0.0871	0.13678	.	.	.	.	.	.	.	.	.	.	.	0.49582	D	0.9998	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.211	2.7693	0.05329	0.2171:0.4889:0.0:0.294	.	.	.	.	X	249	.	ENSP00000351391:E249X	E	-	1	0	ZNF781	42852145	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	0.245000	0.18142	-0.107000	0.12088	-0.300000	0.09419	GAA		0.363	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605	
ZNF607	84775	broad.mit.edu	37	19	38188954	38188954	+	Missense_Mutation	SNP	C	C	A	rs368373326		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38188954C>A	ENST00000355202.4	-	5	2673	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	ZNF607_ENST00000395835.3_Missense_Mutation_p.R692I|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	693					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.R693I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AATATGAATTCTCTGATGTAC	0.348																																					p.R693I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2078T	19						.	C	ILE/ARG,ILE/ARG	0,4406		0,0,2203	113.0	119.0	117.0		2075,2078	1.3	0.9	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF607	NM_001172677.1,NM_032689.4	97,97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	692/696,693/697	38188954	1,13005	2203	4300	6503	42880794	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.2078G>T	19.37:g.38188954C>A	ENSP00000347338:p.Arg693Ile		42880794	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941964	0.53079	0.0	1.16E-4	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.32753	1.44;1.44	2.33	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37293	0.0998	M	0.77103	2.36	0.37746	D	0.925799	P;P	0.42757	0.789;0.746	B;P	0.47044	0.136;0.535	T	0.31166	-0.9953	9	0.51188	T	0.08	.	5.0145	0.14330	0.0:0.815:0.0:0.185	.	693;692	Q96SK3;F5H141	ZN607_HUMAN;.	I	693;692	ENSP00000347338:R693I;ENSP00000438015:R692I	ENSP00000347338:R693I	R	-	2	0	ZNF607	42880794	0.000000	0.05858	0.940000	0.37924	0.485000	0.33311	-0.048000	0.11944	0.302000	0.22762	-0.379000	0.06801	AGA		0.348	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF607	84775	broad.mit.edu	37	19	38189206	38189206	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38189206C>A	ENST00000355202.4	-	5	2421	c.1826G>T	c.(1825-1827)aGa>aTa	p.R609I	ZNF607_ENST00000395835.3_Missense_Mutation_p.R608I|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	609					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.R609I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGTATGAATTCTCTCATGAAT	0.378																																					p.R609I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1826T	19						.						68.0	64.0	65.0					19																	38189206		2203	4300	6503	42881046	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1826G>T	19.37:g.38189206C>A	ENSP00000347338:p.Arg609Ile		42881046	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346199	0.61073	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.24908	1.83;1.83	1.96	0.862	0.19056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37348	0.1000	L	0.50847	1.595	0.41997	D	0.990876	D;P	0.76494	0.999;0.883	D;P	0.68192	0.956;0.448	T	0.10567	-1.0624	9	0.56958	D	0.05	.	7.2809	0.26310	0.0:0.8485:0.0:0.1515	.	609;608	Q96SK3;F5H141	ZN607_HUMAN;.	I	609;608	ENSP00000347338:R609I;ENSP00000438015:R608I	ENSP00000347338:R609I	R	-	2	0	ZNF607	42881046	0.000000	0.05858	0.099000	0.21106	0.818000	0.46254	-0.341000	0.07811	0.154000	0.19237	0.462000	0.41574	AGA		0.378	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF607	84775	broad.mit.edu	37	19	38189709	38189709	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38189709T>G	ENST00000355202.4	-	5	1918	c.1323A>C	c.(1321-1323)agA>agC	p.R441S	ZNF607_ENST00000395835.3_Missense_Mutation_p.R440S|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	441					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.R441S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CAGTATGAATTCTGTTATGAT	0.393																																					p.R441S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1323C	19						.						100.0	102.0	101.0					19																	38189709		2203	4300	6503	42881549	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1323A>C	19.37:g.38189709T>G	ENSP00000347338:p.Arg441Ser		42881549	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744674	0.49151	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.24151	1.87;1.87	2.38	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35711	0.0941	L	0.49571	1.57	0.23879	N	0.996584	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.891	T	0.12400	-1.0549	9	0.59425	D	0.04	.	5.8678	0.18786	0.0:0.1675:0.0:0.8325	.	441;440	Q96SK3;F5H141	ZN607_HUMAN;.	S	441;440	ENSP00000347338:R441S;ENSP00000438015:R440S	ENSP00000347338:R441S	R	-	3	2	ZNF607	42881549	0.000000	0.05858	0.842000	0.33263	0.640000	0.38277	-1.067000	0.03451	0.114000	0.18032	0.459000	0.35465	AGA		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF607	84775	broad.mit.edu	37	19	38190030	38190030	+	Missense_Mutation	SNP	C	C	A	rs369953157		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38190030C>A	ENST00000355202.4	-	5	1597	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	ZNF607_ENST00000395835.3_Missense_Mutation_p.E333D|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	334					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.E334D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATAGTGTTTCTCCCCTGAAT	0.393																																					p.E334D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1002T	19						.						110.0	110.0	110.0					19																	38190030		2203	4300	6503	42881870	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1002G>T	19.37:g.38190030C>A	ENSP00000347338:p.Glu334Asp		42881870	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713848	0.30413	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.64085	-0.08;-0.08	1.63	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69584	0.3127	M	0.62016	1.91	0.26517	N	0.974492	P;P	0.48294	0.89;0.908	P;P	0.60173	0.87;0.532	T	0.59495	-0.7444	9	0.72032	D	0.01	.	6.8178	0.23841	0.0:0.8357:0.0:0.1643	.	334;333	Q96SK3;F5H141	ZN607_HUMAN;.	D	334;333	ENSP00000347338:E334D;ENSP00000438015:E333D	ENSP00000347338:E334D	E	-	3	2	ZNF607	42881870	0.940000	0.31905	0.059000	0.19551	0.072000	0.16883	0.120000	0.15647	0.029000	0.15352	0.561000	0.74099	GAG		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF607	84775	broad.mit.edu	37	19	38190464	38190464	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38190464T>G	ENST00000355202.4	-	5	1163	c.568A>C	c.(568-570)Aaa>Caa	p.K190Q	ZNF607_ENST00000395835.3_Missense_Mutation_p.K189Q|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K190Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATGAACTTTCCCATGTTGA	0.393																																					p.K190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A568C	19						.						117.0	109.0	112.0					19																	38190464		2203	4300	6503	42882304	SO:0001583	missense	84775	exon5			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.568A>C	19.37:g.38190464T>G	ENSP00000347338:p.Lys190Gln		42882304	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408706	0.42715	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.16196	2.36;2.36	1.91	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19604	0.0471	L	0.55017	1.72	0.09310	N	1	P;P	0.41929	0.603;0.765	B;P	0.45406	0.097;0.479	T	0.13629	-1.0502	9	0.72032	D	0.01	.	5.0253	0.14381	0.0:0.1687:0.0:0.8313	.	190;189	Q96SK3;F5H141	ZN607_HUMAN;.	Q	190;189	ENSP00000347338:K190Q;ENSP00000438015:K189Q	ENSP00000347338:K190Q	K	-	1	0	ZNF607	42882304	0.000000	0.05858	0.004000	0.12327	0.100000	0.18952	0.525000	0.22956	0.869000	0.35703	0.459000	0.35465	AAA		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF607	84775	broad.mit.edu	37	19	38200709	38200709	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38200709G>A	ENST00000355202.4	-	3	619	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF607_ENST00000395835.3_Silent_p.F8F|CTD-2528L19.4_ENST00000586606.2_Silent_p.F8F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F8F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACATCCCCGAATGTTATTG	0.498																																					p.F8F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24T	19						.						102.0	90.0	94.0					19																	38200709		2203	4300	6503	42892549	SO:0001819	synonymous_variant	84775	exon3			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.24C>T	19.37:g.38200709G>A			42892549	NM_032689	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	CCDS33006.1																																																																																				0.498	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689	
ZNF573	126231	broad.mit.edu	37	19	38230298	38230298	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38230298T>A	ENST00000590414.2	-	4	1114	c.1093A>T	c.(1093-1095)Aaa>Taa	p.K365*	ZNF573_ENST00000392138.1_Nonsense_Mutation_p.K278*|ZNF573_ENST00000339503.4_Nonsense_Mutation_p.K307*|ZNF573_ENST00000357309.3_Nonsense_Mutation_p.K277*|ZNF573_ENST00000536220.1_Nonsense_Mutation_p.K277*			Q86YE8	ZN573_HUMAN	zinc finger protein 573	365					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.K307*(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTAAAGGTTTTCTTACACTCC	0.378																																					p.K363X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1087T	19						.						70.0	72.0	72.0					19																	38230298		2203	4300	6503	42922138	SO:0001587	stop_gained	126231	exon5			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1093A>T	19.37:g.38230298T>A	ENSP00000465020:p.Lys365*		42922138	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Nonsense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	T	35	5.560361	0.96527	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	.	.	.	2.02	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4931	0.33112	0.0:0.0:0.0:1.0	.	.	.	.	X	278;277;277;307;277	.	ENSP00000340171:K307X	K	-	1	0	ZNF573	42922138	0.120000	0.22244	0.929000	0.37066	0.953000	0.61014	2.819000	0.48049	0.786000	0.33708	0.377000	0.23210	AAA		0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
SPINT2	10653	broad.mit.edu	37	19	38780877	38780877	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38780877G>T	ENST00000301244.7	+	5	945	c.510G>T	c.(508-510)aaG>aaT	p.K170N	CTB-102L5.4_ENST00000591889.1_Missense_Mutation_p.R48I|SPINT2_ENST00000587090.1_Missense_Mutation_p.K120N|SPINT2_ENST00000454580.3_Missense_Mutation_p.K113N	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	170	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K170N(1)		large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGGCAATAAGAACAGCTACC	0.597																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	19						.						52.0	52.0	52.0					19																	38780877		2203	4300	6503	43472717	SO:0001583	missense	10653	exon4			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.510G>T	19.37:g.38780877G>T	ENSP00000301244:p.Lys170Asn		43472717	NM_001166103	A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117213	0.37339	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.57907	0.37;0.37	5.55	-3.44	0.04796	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.090718	0.48286	D	0.000199	T	0.49184	0.1542	L	0.41124	1.26	0.26891	N	0.967325	P;P	0.49862	0.899;0.929	B;P	0.54026	0.401;0.74	T	0.53251	-0.8465	10	0.39692	T	0.17	.	11.6325	0.51185	0.4575:0.0:0.5425:0.0	.	113;170	B4DLU1;O43291	.;SPIT2_HUMAN	N	170;113	ENSP00000301244:K170N;ENSP00000389788:K113N	ENSP00000301244:K170N	K	+	3	2	SPINT2	43472717	1.000000	0.71417	0.174000	0.22961	0.267000	0.26476	0.601000	0.24119	-0.517000	0.06461	-0.140000	0.14226	AAG		0.597	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2		
GGN	199720	broad.mit.edu	37	19	38877102	38877102	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38877102G>A	ENST00000334928.6	-	3	932	c.800C>T	c.(799-801)tCg>tTg	p.S267L	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	267	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.S267L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCCCCCAGCGAAGCTTTGGC	0.647																																					p.S267L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800T	19						.						20.0	24.0	23.0					19																	38877102		1955	3912	5867	43568942	SO:0001583	missense	199720	exon3			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.800C>T	19.37:g.38877102G>A	ENSP00000334940:p.Ser267Leu		43568942	NM_152657	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200166	0.38905	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.63	3.63	0.41609	.	0.424789	0.17486	N	0.172522	T	0.30230	0.0758	L	0.27053	0.805	0.27110	N	0.962403	D;P	0.57899	0.981;0.938	P;B	0.47206	0.541;0.363	T	0.08006	-1.0743	9	0.48119	T	0.1	-2.77	10.6653	0.45726	0.0:0.0:1.0:0.0	.	184;267	Q86UU5-2;Q86UU5	.;GGN_HUMAN	L	267	.	ENSP00000334940:S267L	S	-	2	0	GGN	43568942	0.846000	0.29590	0.427000	0.26684	0.784000	0.44337	2.006000	0.40874	1.848000	0.53677	0.462000	0.41574	TCG		0.647	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657	
FAM98C	147965	broad.mit.edu	37	19	38897589	38897589	+	Nonsense_Mutation	SNP	C	C	T	rs180979305	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38897589C>T	ENST00000252530.5	+	7	809	c.790C>T	c.(790-792)Cga>Tga	p.R264*	FAM98C_ENST00000588262.1_Missense_Mutation_p.S130L|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	264								p.R264*(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GATCCCAATTCGAGAGGTTCT	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19630	0.0		0.0	False		,,,				2504	0.0				p.R264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C790T	19						.	C	stop/ARG	9,4031		0,9,2011	99.0	102.0	101.0		790	4.9	1.0	19		101	0,8356		0,0,4178	yes	stop-gained	FAM98C	NM_174905.3		0,9,6189	TT,TC,CC		0.0,0.2228,0.0726		264/350	38897589	9,12387	2020	4178	6198	43589429	SO:0001587	stop_gained	147965	exon7				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.790C>T	19.37:g.38897589C>T	ENSP00000252530:p.Arg264*		43589429	NM_174905	A6NMW3|Q66K45	Nonsense_Mutation	SNP	ENST00000252530.5	37	CCDS42562.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.3	3.968479	0.74131	0.002228	0.0	ENSG00000130244	ENST00000252530	.	.	.	4.9	4.9	0.64082	.	0.229512	0.22316	N	0.061664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6392	15.6386	0.76977	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000252530:R264X	R	+	1	2	FAM98C	43589429	0.996000	0.38824	0.992000	0.48379	0.324000	0.28378	1.927000	0.40094	2.274000	0.75844	0.650000	0.86243	CGA		0.617	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905	
CHAF1A	10036	broad.mit.edu	37	19	4409115	4409115	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4409115G>A	ENST00000301280.5	+	3	420	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	107	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.E107K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATAGAATCGAAACCAGTAT	0.423								Chromatin Structure																													p.E107K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	19						.						97.0	105.0	103.0					19																	4409115		2203	4300	6503	4360115	SO:0001583	missense	10036	exon3			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.319G>A	19.37:g.4409115G>A	ENSP00000301280:p.Glu107Lys		4360115	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	3.499	-0.102307	0.06967	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.44083	0.93	4.96	-4.16	0.03869	.	.	.	.	.	T	0.15522	0.0374	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21999	-1.0229	9	0.87932	D	0	-2.5556	6.9635	0.24610	0.3447:0.3763:0.279:0.0	.	107	Q13111	CAF1A_HUMAN	K	107	ENSP00000301280:E107K	ENSP00000301280:E107K	E	+	1	0	CHAF1A	4360115	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.465000	0.22004	-1.397000	0.02068	-0.258000	0.10820	GAA		0.423	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
RASGRP4	115727	broad.mit.edu	37	19	38901840	38901840	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38901840T>A	ENST00000587738.1	-	15	1837	c.1767A>T	c.(1765-1767)gaA>gaT	p.E589D	RASGRP4_ENST00000586305.1_Missense_Mutation_p.E575D|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E555D|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E497D|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E520D|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E400D|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E492D			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	589					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.E589D(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTTCTTACATTCTACCTTCA	0.607																																					p.E400D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1200T	19						.						78.0	84.0	82.0					19																	38901840		2023	4184	6207	43593680	SO:0001583	missense	115727	exon12			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1767A>T	19.37:g.38901840T>A	ENSP00000465772:p.Glu589Asp		43593680	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967443	0.53507	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000454404	D;D;D	0.93763	-3.28;-3.28;-3.28	5.83	-1.39	0.08997	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.216830	0.47455	D	0.000232	D	0.92344	0.7571	L	0.33189	0.99	0.41286	D	0.986943	D;P;D;D;D;D;D	0.76494	0.998;0.597;0.998;0.998;0.998;0.997;0.999	D;P;D;D;D;D;D	0.80764	0.965;0.739;0.949;0.949;0.949;0.977;0.994	D	0.88520	0.3095	10	0.40728	T	0.16	-26.0779	9.2195	0.37368	0.0:0.4344:0.0:0.5656	.	400;492;497;555;520;575;589	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	D	497;492;400;589	ENSP00000411878:E497D;ENSP00000293062:E492D;ENSP00000445966:E400D	ENSP00000293062:E492D	E	-	3	2	RASGRP4	43593680	0.793000	0.28825	0.982000	0.44146	0.021000	0.10359	-0.100000	0.10990	-0.085000	0.12573	-0.285000	0.09966	GAA		0.607	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
RYR1	6261	broad.mit.edu	37	19	38943558	38943558	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38943558C>A	ENST00000359596.3	+	13	1344	c.1344C>A	c.(1342-1344)atC>atA	p.I448I	RYR1_ENST00000360985.3_Silent_p.I448I|RYR1_ENST00000355481.4_Silent_p.I448I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	448					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.I448I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGACCTCATCATCTACTTCG	0.657																																					p.I448I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1344A	19						.						46.0	34.0	38.0					19																	38943558		2202	4300	6502	43635398	SO:0001819	synonymous_variant	6261	exon13			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1344C>A	19.37:g.38943558C>A			43635398	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	38957016	38957016	+	Silent	SNP	C	C	T	rs368131832		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:38957016C>T	ENST00000359596.3	+	24	3156	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	RYR1_ENST00000360985.3_Silent_p.I1052I|RYR1_ENST00000355481.4_Silent_p.I1052I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1052	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.I1052I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTACAACATCGAGCCTCCTG	0.667																																					p.I1052I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3156T	19						.						20.0	20.0	20.0					19																	38957016		2175	4264	6439	43648856	SO:0001819	synonymous_variant	6261	exon24			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3156C>T	19.37:g.38957016C>T			43648856	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
RYR1	6261	broad.mit.edu	37	19	39063823	39063823	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39063823C>A	ENST00000359596.3	+	96	14005	c.14005C>A	c.(14005-14007)Ctg>Atg	p.L4669M	RYR1_ENST00000360985.3_Missense_Mutation_p.L4664M|RYR1_ENST00000355481.4_Missense_Mutation_p.L4664M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4669					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L4669M(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCAGGTGCCCCTGGTAATCTT	0.587																																					p.L4664M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13990A	19						.						79.0	76.0	77.0					19																	39063823		2203	4300	6503	43755663	SO:0001583	missense	6261	exon95			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14005C>A	19.37:g.39063823C>A	ENSP00000352608:p.Leu4669Met		43755663	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.369012	0.24771	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97941	-4.62;-4.62;-4.62	4.39	3.36	0.38483	Ryanodine Receptor TM 4-6 (1);	0.000000	0.53938	U	0.000060	D	0.98523	0.9507	M	0.86651	2.83	0.42793	D	0.993905	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99019	1.0817	10	0.87932	D	0	.	9.8515	0.41059	0.0:0.8266:0.0:0.1734	.	4664;4669	P21817-2;P21817	.;RYR1_HUMAN	M	4669;4664;4664	ENSP00000352608:L4669M;ENSP00000347667:L4664M;ENSP00000354254:L4664M	ENSP00000347667:L4664M	L	+	1	2	RYR1	43755663	0.998000	0.40836	1.000000	0.80357	0.918000	0.54935	3.813000	0.55636	1.085000	0.41206	0.313000	0.20887	CTG		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CHAF1A	10036	broad.mit.edu	37	19	4432007	4432007	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4432007A>G	ENST00000301280.5	+	12	2107	c.2006A>G	c.(2005-2007)gAc>gGc	p.D669G	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	669	Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.D669G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAGTGGGACGAGTTCCTG	0.562								Chromatin Structure																													p.D669G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2006G	19						.						100.0	92.0	95.0					19																	4432007		2203	4300	6503	4383007	SO:0001583	missense	10036	exon12			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2006A>G	19.37:g.4432007A>G	ENSP00000301280:p.Asp669Gly		4383007	NM_005483	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596462	0.66332	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.34072	1.38	4.71	4.71	0.59529	.	.	.	.	.	T	0.54334	0.1852	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.58335	-0.7654	9	0.87932	D	0	-50.152	13.7872	0.63117	1.0:0.0:0.0:0.0	.	669	Q13111	CAF1A_HUMAN	G	669	ENSP00000301280:D669G	ENSP00000301280:D669G	D	+	2	0	CHAF1A	4383007	1.000000	0.71417	0.987000	0.45799	0.281000	0.26958	8.859000	0.92264	2.094000	0.63399	0.459000	0.35465	GAC		0.562	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
MAP4K1	11184	broad.mit.edu	37	19	39101941	39101941	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39101941G>T	ENST00000591517.1	-	10	698	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	MAP4K1_ENST00000396857.2_Missense_Mutation_p.L224I|MAP4K1_ENST00000586296.1_Missense_Mutation_p.L224I|MAP4K1_ENST00000589130.1_Missense_Mutation_p.L220I|MAP4K1_ENST00000589002.1_Intron|MAP4K1_ENST00000423454.2_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L224I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAGGAAGAGAACTCTAGAA	0.552																																					p.L224I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C670A	19						.						83.0	82.0	83.0					19																	39101941		1925	4131	6056	43793781	SO:0001583	missense	11184	exon10			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.670C>A	19.37:g.39101941G>T	ENSP00000465039:p.Leu224Ile		43793781	NM_001042600		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076122	0.76415	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.27256	1.68	4.13	4.13	0.48395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.34542	0.0901	L	0.28054	0.825	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.87578	0.994;0.998	T	0.12243	-1.0555	10	0.87932	D	0	.	9.7435	0.40433	0.1017:0.0:0.8983:0.0	.	224;224	Q92918-2;Q92918	.;M4K1_HUMAN	I	224	ENSP00000380066:L224I	ENSP00000221409:L224I	L	-	1	0	MAP4K1	43793781	0.999000	0.42202	0.998000	0.56505	0.903000	0.53119	2.899000	0.48679	2.122000	0.65172	0.555000	0.69702	CTC		0.552	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
ACTN4	81	broad.mit.edu	37	19	39214690	39214690	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39214690C>A	ENST00000252699.2	+	14	1741	c.1665C>A	c.(1663-1665)ttC>ttA	p.F555L	ACTN4_ENST00000424234.2_Missense_Mutation_p.F165L|ACTN4_ENST00000390009.3_Missense_Mutation_p.F336L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	555					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F555L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGACATGTTCATCGTCCATA	0.642																																					p.F555L	Colon(168;199 1940 10254 46213 46384)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1665A	19						.						63.0	64.0	64.0					19																	39214690		2203	4300	6503	43906530	SO:0001583	missense	81	exon14			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1665C>A	19.37:g.39214690C>A	ENSP00000252699:p.Phe555Leu		43906530	NM_004924	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101958	0.56183	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	T;T;T	0.48836	0.8;0.8;0.8	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.86343	2.81	0.58432	D	0.999993	B	0.28783	0.222	B	0.42030	0.373	T	0.65463	-0.6162	10	0.35671	T	0.21	.	14.8549	0.70329	0.0:1.0:0.0:0.0	.	555	O43707	ACTN4_HUMAN	L	555;165;336	ENSP00000252699:F555L;ENSP00000411187:F165L;ENSP00000439497:F336L	ENSP00000252699:F555L	F	+	3	2	ACTN4	43906530	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.107000	0.50329	2.106000	0.64143	0.561000	0.74099	TTC		0.642	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
ZFP36	7538	broad.mit.edu	37	19	39899054	39899054	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39899054C>A	ENST00000248673.3	+	2	754	c.696C>A	c.(694-696)ttC>ttA	p.F232L	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.F238L	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	232					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)	p.F232L(1)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCTGCCTTCTCTGCTGCCC	0.687																																					p.F232L	NSCLC(67;1164 1324 12056 21056 30097)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C696A	19						.						41.0	48.0	45.0					19																	39899054		2203	4299	6502	44590894	SO:0001583	missense	7538	exon2			M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.696C>A	19.37:g.39899054C>A	ENSP00000248673:p.Phe232Leu		44590894	NM_003407	B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37		.	.	.	.	.	.	.	.	.	.	C	14.09	2.433062	0.43224	.	.	ENSG00000128016	ENST00000248673	T	0.19669	2.13	4.35	3.31	0.37934	.	0.250559	0.33272	U	0.005084	T	0.27241	0.0668	L	0.44542	1.39	0.34663	D	0.722841	D	0.67145	0.996	P	0.58266	0.836	T	0.26360	-1.0105	10	0.14656	T	0.56	-15.9899	10.1418	0.42740	0.0:0.9:0.0:0.1	.	232	P26651	TTP_HUMAN	L	232	ENSP00000248673:F232L	ENSP00000248673:F232L	F	+	3	2	ZFP36	44590894	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.085000	0.41634	1.065000	0.40693	0.442000	0.29010	TTC		0.687	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PLEKHG2	64857	broad.mit.edu	37	19	39915227	39915227	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39915227C>A	ENST00000409794.3	+	19	4304	c.3454C>A	c.(3454-3456)Ctc>Atc	p.L1152I	CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.L1123I|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.L1093I|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1152	Pro-rich.				apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1110I(1)|p.L1093I(1)|p.L1152I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCACAAGTCCTCACAGACAT	0.617																																					p.L1152I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3454A	19						.						94.0	89.0	90.0					19																	39915227		2203	4300	6503	44607067	SO:0001583	missense	64857	exon19			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3454C>A	19.37:g.39915227C>A	ENSP00000386733:p.Leu1152Ile		44607067	NM_022835	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273064	0.80580	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508	T;T;T	0.75260	-0.77;-0.83;-0.92	4.11	3.06	0.35304	.	0.000000	0.35495	N	0.003161	T	0.79868	0.4520	L	0.52905	1.665	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.993	D;D;D	0.75484	0.986;0.967;0.967	T	0.77316	-0.2633	9	.	.	.	.	8.525	0.33300	0.0:0.8855:0.0:0.1145	.	1123;1152;1093	Q9H7P9-3;Q9H7P9;E7ESZ3	.;PKHG2_HUMAN;.	I	1152;1123;1093	ENSP00000386733:L1152I;ENSP00000392906:L1123I;ENSP00000408857:L1093I	.	L	+	1	0	PLEKHG2	44607067	0.116000	0.22171	0.661000	0.29709	0.612000	0.37316	1.443000	0.35057	1.044000	0.40200	0.205000	0.17691	CTC		0.617	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
SUPT5H	6829	broad.mit.edu	37	19	39960790	39960790	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39960790G>T	ENST00000599117.1	+	18	1773	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	SUPT5H_ENST00000402194.2_Missense_Mutation_p.R465I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R469I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.R469I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R465I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	469					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R469I(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGGAACTTAGAAAATACTTC	0.557																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	19						.						119.0	113.0	115.0					19																	39960790		2203	4300	6503	44652630	SO:0001583	missense	6829	exon16			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1406G>T	19.37:g.39960790G>T	ENSP00000470252:p.Arg469Ile		44652630	NM_003169	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892989	0.91889	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.63	5.63	0.86233	Translation protein SH3-like (1);	0.059925	0.64402	D	0.000004	D	0.83533	0.5275	M	0.85777	2.775	0.80722	D	1	D;P;P	0.89917	1.0;0.944;0.908	D;P;P	0.69654	0.965;0.729;0.692	D	0.84713	0.0735	8	.	.	.	-22.9872	18.4634	0.90747	0.0:0.0:1.0:0.0	.	261;465;469	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	I	469;465;447;469	.	.	R	+	2	0	SUPT5H	44652630	1.000000	0.71417	0.961000	0.40146	0.964000	0.63967	7.824000	0.86668	2.671000	0.90904	0.455000	0.32223	AGA		0.557	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169	
TIMM50	92609	broad.mit.edu	37	19	39976337	39976337	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39976337G>A	ENST00000607714.1	+	6	404	c.382G>A	c.(382-384)Gag>Aag	p.E128K	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Missense_Mutation_p.E231K|TIMM50_ENST00000544017.1_Missense_Mutation_p.E15K			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	128					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.E231K(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATGATCATCGAGCCCACCAG	0.622																																					p.E231K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	19						.						94.0	78.0	83.0					19																	39976337		2203	4300	6503	44668177	SO:0001583	missense	92609	exon6			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.382G>A	19.37:g.39976337G>A	ENSP00000475531:p.Glu128Lys		44668177	NM_001001563	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37		.	.	.	.	.	.	.	.	.	.	G	22.1	4.247382	0.80024	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.59967	1.855	0.80722	D	1	P	0.50272	0.933	B	0.43155	0.41	T	0.60136	-0.7322	8	.	.	.	-20.7268	17.1668	0.86818	0.0:0.0:1.0:0.0	.	231	Q3ZCQ8-2	.	K	231;15	.	.	E	+	1	0	TIMM50	44668177	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.278000	0.78587	2.576000	0.86940	0.561000	0.74099	GAG		0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
TIMM50	92609	broad.mit.edu	37	19	39976926	39976926	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:39976926G>A	ENST00000607714.1	+	7	614	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Missense_Mutation_p.G301S|TIMM50_ENST00000544017.1_Missense_Mutation_p.G85S			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	198	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.G301S(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCAGAGACTGGCATGGTGAG	0.562																																					p.G301S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901A	19						.						129.0	134.0	132.0					19																	39976926		2203	4300	6503	44668766	SO:0001583	missense	92609	exon7			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.592G>A	19.37:g.39976926G>A	ENSP00000475531:p.Gly198Ser		44668766	NM_001001563	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.093189	0.76756	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	T;T	0.15834	2.39;2.39	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	N	0.16567	0.415	0.80722	D	1	P	0.49862	0.929	P	0.58172	0.834	T	0.03095	-1.1073	9	.	.	.	-23.5099	17.419	0.87510	0.0:0.0:1.0:0.0	.	301	Q3ZCQ8-2	.	S	301;85	ENSP00000318115:G301S;ENSP00000445806:G85S	.	G	+	1	0	TIMM50	44668766	1.000000	0.71417	0.989000	0.46669	0.554000	0.35429	9.117000	0.94347	2.649000	0.89929	0.462000	0.41574	GGC		0.562	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563	
CLC	1178	broad.mit.edu	37	19	40222064	40222064	+	Missense_Mutation	SNP	C	C	A	rs368189111		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40222064C>A	ENST00000221804.4	-	4	460	c.385G>T	c.(385-387)Gat>Tat	p.D129Y		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	129	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)	p.D129Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AGGGAGATATCTCTCCACACT	0.418																																					p.D129Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385T	19						.	C	TYR/ASP	1,4405		0,1,2202	196.0	191.0	193.0		385	0.7	0.8	19		193	0,8600		0,0,4300	no	missense	CLC	NM_001828.4	160	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	129/143	40222064	1,13005	2203	4300	6503	44913904	SO:0001583	missense	1178	exon4			L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.385G>T	19.37:g.40222064C>A	ENSP00000221804:p.Asp129Tyr		44913904	NM_001828	C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.857577	0.32791	2.27E-4	0.0	ENSG00000105205	ENST00000221804	T	0.25912	1.77	0.659	0.659	0.17861	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.55513	0.1925	M	0.92923	3.36	0.25594	N	0.986668	D	0.89917	1.0	D	0.91635	0.999	T	0.41197	-0.9522	8	0.87932	D	0	.	.	.	.	.	129	Q05315	LPPL_HUMAN	Y	129	ENSP00000221804:D129Y	ENSP00000221804:D129Y	D	-	1	0	CLC	44913904	0.519000	0.26242	0.836000	0.33094	0.176000	0.22953	1.079000	0.30766	0.608000	0.30000	0.187000	0.17357	GAT		0.418	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828	
SEMA6B	10501	broad.mit.edu	37	19	4556998	4556998	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4556998C>T	ENST00000586582.1	-	5	644	c.334G>A	c.(334-336)Gac>Aac	p.D112N	SEMA6B_ENST00000586965.1_Missense_Mutation_p.D112N|SEMA6B_ENST00000301293.3_Missense_Mutation_p.D112N	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	112	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.D112N(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTTTATGTCGCTGGGGTTA	0.642																																					p.D112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	19						.						68.0	49.0	55.0					19																	4556998		2203	4299	6502	4507998	SO:0001583	missense	10501	exon5			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.334G>A	19.37:g.4556998C>T	ENSP00000467290:p.Asp112Asn		4507998	NM_032108	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724017	0.68959	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.25912	1.77	3.7	2.62	0.31277	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.137472	0.49305	U	0.000158	T	0.46054	0.1373	M	0.67953	2.075	0.40699	D	0.982469	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.49000	-0.8984	10	0.87932	D	0	.	11.2484	0.49010	0.1848:0.8152:0.0:0.0	.	112;112	B4DT36;Q9H3T3	.;SEM6B_HUMAN	N	112	ENSP00000301293:D112N	ENSP00000301292:D112N	D	-	1	0	SEMA6B	4507998	1.000000	0.71417	0.989000	0.46669	0.329000	0.28539	7.016000	0.76393	0.864000	0.35578	0.313000	0.20887	GAC		0.642	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108	
FCGBP	8857	broad.mit.edu	37	19	40366251	40366251	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40366251G>T	ENST00000221347.6	-	30	13990	c.13983C>A	c.(13981-13983)tcC>tcA	p.S4661S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4661	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.S4661S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCGCCGAAGGACTCCTGCT	0.736																																					p.S4661S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13983A	19						.						28.0	39.0	35.0					19																	40366251		2202	4297	6499	45058091	SO:0001819	synonymous_variant	8857	exon30			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13983C>A	19.37:g.40366251G>T			45058091	NM_003890	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.736	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
FCGBP	8857	broad.mit.edu	37	19	40392191	40392191	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40392191T>G	ENST00000221347.6	-	17	8202	c.8195A>C	c.(8194-8196)gAa>gCa	p.E2732A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2732	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.E2732A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAGGGCATTCCATGGCTGC	0.652																																					p.E2732A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8195C	19						.						10.0	11.0	11.0					19																	40392191		2131	4192	6323	45084031	SO:0001583	missense	8857	exon17			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8195A>C	19.37:g.40392191T>G	ENSP00000221347:p.Glu2732Ala		45084031	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	4.342	0.062962	0.08388	.	.	ENSG00000090920	ENST00000221347	T	0.79247	-1.25	2.66	-1.58	0.08479	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.975053	0.08364	U	0.957148	T	0.61451	0.2348	L	0.29908	0.895	0.09310	N	1	B	0.33120	0.398	B	0.39590	0.304	T	0.48937	-0.8990	10	0.10377	T	0.69	.	1.5738	0.02620	0.1613:0.1054:0.3306:0.4026	.	2732	Q9Y6R7	FCGBP_HUMAN	A	2732	ENSP00000221347:E2732A	ENSP00000221347:E2732A	E	-	2	0	FCGBP	45084031	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	-0.238000	0.08977	-0.635000	0.05531	0.248000	0.18094	GAA		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
FCGBP	8857	broad.mit.edu	37	19	40430320	40430320	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40430320C>T	ENST00000221347.6	-	3	1630	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	541	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.S541S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCGGGTCAGCGACACAGAGT	0.657																																					p.S541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1623A	19						.						49.0	41.0	44.0					19																	40430320		2203	4300	6503	45122160	SO:0001819	synonymous_variant	8857	exon3			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1623G>A	19.37:g.40430320C>T			45122160	NM_003890	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
PSMC4	5704	broad.mit.edu	37	19	40486243	40486243	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40486243G>T	ENST00000157812.2	+	9	1167	c.969G>T	c.(967-969)cgG>cgT	p.R323R	PSMC4_ENST00000455878.2_Silent_p.R292R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	323					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R323R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCTGCTACGGCCAGGACGGC	0.542																																					p.R292R	Colon(105;1478 1543 4034 6132 38638)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G876T	19						.						122.0	126.0	124.0					19																	40486243		2203	4300	6503	45178083	SO:0001819	synonymous_variant	5704	exon9			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.969G>T	19.37:g.40486243G>T			45178083	NM_153001	Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	CCDS12547.1																																																																																				0.542	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503	
ZNF546	339327	broad.mit.edu	37	19	40512012	40512012	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40512012C>A	ENST00000347077.4	+	4	310	c.94C>A	c.(94-96)Ctc>Atc	p.L32I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.L6I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	32					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.L32I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCCCCGGTTTCTCTGGATTCT	0.418																																					p.L32I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94A	19						.						130.0	122.0	124.0					19																	40512012		2203	4300	6503	45203852	SO:0001583	missense	339327	exon4			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.94C>A	19.37:g.40512012C>A	ENSP00000339823:p.Leu32Ile		45203852	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	8.738	0.918269	0.17982	.	.	ENSG00000187187	ENST00000347077	T	0.06849	3.25	2.4	1.35	0.21983	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.30482	0.18;0.281	B;B	0.24974	0.057;0.057	T	0.45249	-0.9274	9	0.23891	T	0.37	.	5.2462	0.15498	0.0:0.8326:0.0:0.1674	.	6;32	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	32	ENSP00000339823:L32I	ENSP00000339823:L32I	L	+	1	0	ZNF546	45203852	0.033000	0.19621	0.034000	0.17996	0.002000	0.02628	1.290000	0.33319	0.549000	0.28973	-0.150000	0.13652	CTC		0.418	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40519887	40519887	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40519887G>T	ENST00000347077.4	+	7	926	c.710G>T	c.(709-711)aGa>aTa	p.R237I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R211I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R237I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAACATCTGAGAATTCACACT	0.408																																					p.R237I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710T	19						.						82.0	86.0	85.0					19																	40519887		2203	4300	6503	45211727	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.710G>T	19.37:g.40519887G>T	ENSP00000339823:p.Arg237Ile		45211727	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	12.95	2.092822	0.36952	.	.	ENSG00000187187	ENST00000347077	T	0.24908	1.83	2.41	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23806	0.0576	M	0.81497	2.545	0.27381	N	0.955403	P;P	0.50710	0.938;0.626	B;B	0.38327	0.271;0.096	T	0.32455	-0.9906	9	0.56958	D	0.05	.	1.8957	0.03257	0.2732:0.0:0.4342:0.2926	.	211;237	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	237	ENSP00000339823:R237I	ENSP00000339823:R237I	R	+	2	0	ZNF546	45211727	0.000000	0.05858	0.037000	0.18230	0.995000	0.86356	0.460000	0.21924	0.324000	0.23333	0.591000	0.81541	AGA		0.408	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520025	40520025	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40520025G>T	ENST00000347077.4	+	7	1064	c.848G>T	c.(847-849)aGa>aTa	p.R283I	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R257I	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R283I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCCTTTAGACTTCATTAT	0.443																																					p.R283I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848T	19						.						104.0	104.0	104.0					19																	40520025		2203	4300	6503	45211865	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.848G>T	19.37:g.40520025G>T	ENSP00000339823:p.Arg283Ile		45211865	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	6.109	0.388276	0.11581	.	.	ENSG00000187187	ENST00000347077	T	0.08008	3.14	2.61	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	L	0.38531	1.155	0.20563	N	0.999883	P;B	0.39352	0.669;0.136	B;B	0.23716	0.028;0.048	T	0.39840	-0.9594	9	0.20046	T	0.44	.	8.066	0.30661	0.1347:0.0:0.8653:0.0	.	257;283	B3KVL3;Q86UE3	.;ZN546_HUMAN	I	283	ENSP00000339823:R283I	ENSP00000339823:R283I	R	+	2	0	ZNF546	45211865	0.000000	0.05858	0.759000	0.31340	0.994000	0.84299	-1.736000	0.01845	0.600000	0.29862	0.655000	0.94253	AGA		0.443	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520541	40520541	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40520541A>G	ENST00000347077.4	+	7	1580	c.1364A>G	c.(1363-1365)gAa>gGa	p.E455G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E429G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E455G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTCAAACGGAACTTACTCGG	0.393																																					p.E455G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1364G	19						.						70.0	73.0	72.0					19																	40520541		2203	4300	6503	45212381	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1364A>G	19.37:g.40520541A>G	ENSP00000339823:p.Glu455Gly		45212381	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.952	0.968454	0.18659	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07800	3.16	2.67	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.10945	0.07	0.09310	N	1	P	0.38280	0.625	B	0.39738	0.308	T	0.43393	-0.9394	9	0.20046	T	0.44	.	6.1468	0.20291	0.7623:0.0:0.0:0.2377	.	455	Q86UE3	ZN546_HUMAN	G	455;92	ENSP00000339823:E455G	ENSP00000339823:E455G	E	+	2	0	ZNF546	45212381	0.000000	0.05858	0.042000	0.18584	0.932000	0.56968	0.073000	0.14640	0.397000	0.25310	0.533000	0.62120	GAA		0.393	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF546	339327	broad.mit.edu	37	19	40520762	40520762	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40520762G>A	ENST00000347077.4	+	7	1801	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E503K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E529K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATATGTAACGAATGTGGAAA	0.403																																					p.E529K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1585A	19						.						66.0	58.0	60.0					19																	40520762		2203	4300	6503	45212602	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1585G>A	19.37:g.40520762G>A	ENSP00000339823:p.Glu529Lys		45212602	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	17.23	3.337392	0.60963	.	.	ENSG00000187187	ENST00000347077	T	0.07327	3.2	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.20685	0.6	0.22710	N	0.99883	D	0.53745	0.962	P	0.45946	0.498	T	0.29912	-0.9996	9	0.48119	T	0.1	.	12.2301	0.54482	0.0:0.0:1.0:0.0	.	529	Q86UE3	ZN546_HUMAN	K	529	ENSP00000339823:E529K	ENSP00000339823:E529K	E	+	1	0	ZNF546	45212602	0.000000	0.05858	0.961000	0.40146	0.952000	0.60782	-0.204000	0.09425	1.969000	0.57287	0.655000	0.94253	GAA		0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF780B	163131	broad.mit.edu	37	19	40541828	40541828	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40541828G>A	ENST00000434248.1	-	5	1003	c.938C>T	c.(937-939)gCc>gTc	p.A313V	ZNF780B_ENST00000221355.6_Missense_Mutation_p.A165V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	313					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.A313V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATATCGAAAGGCCATCTCACA	0.388																																					p.A313V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C938T	19						.						120.0	120.0	120.0					19																	40541828		2203	4300	6503	45233668	SO:0001583	missense	163131	exon5			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.938C>T	19.37:g.40541828G>A	ENSP00000391641:p.Ala313Val		45233668	NM_001005851	B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.419869	0.25552	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.08546	3.08;3.08	2.21	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.41492	1.28	0.09310	N	1	P	0.47677	0.899	B	0.37601	0.254	T	0.34576	-0.9823	9	0.39692	T	0.17	.	4.2006	0.10464	0.0:0.2608:0.4743:0.2649	.	313	Q9Y6R6	Z780B_HUMAN	V	313;165	ENSP00000391641:A313V;ENSP00000221355:A165V	ENSP00000221355:A165V	A	-	2	0	ZNF780B	45233668	0.000000	0.05858	0.014000	0.15608	0.198000	0.23893	0.034000	0.13776	0.079000	0.16929	0.313000	0.20887	GCC		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
ZNF780A	284323	broad.mit.edu	37	19	40580817	40580817	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40580817C>A	ENST00000595687.2	-	6	1741	c.1532G>T	c.(1531-1533)aGa>aTa	p.R511I	ZNF780A_ENST00000340963.5_Missense_Mutation_p.R511I|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R477I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R512I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R512I	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	511					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.R477I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGTAAAGTCTAAAAGCCTT	0.423																																					p.R511I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532T	19						.						80.0	82.0	82.0					19																	40580817		2203	4300	6503	45272657	SO:0001583	missense	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1532G>T	19.37:g.40580817C>A	ENSP00000472189:p.Arg511Ile		45272657	NM_001142578	E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	c	12.31	1.898464	0.33535	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.04917	3.53;3.53	1.93	-0.548	0.11833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	L	0.35487	1.065	0.19300	N	0.999971	B;D	0.67145	0.238;0.996	B;P	0.59115	0.082;0.852	T	0.30149	-0.9988	9	0.22109	T	0.4	.	0.5793	0.00709	0.249:0.3289:0.2453:0.1768	.	512;511	E9PB48;O75290	.;Z780A_HUMAN	I	511;512;511	ENSP00000400997:R512I;ENSP00000341507:R511I	ENSP00000341507:R511I	R	-	2	0	ZNF780A	45272657	0.000000	0.05858	0.186000	0.23195	0.740000	0.42216	-2.862000	0.00725	0.096000	0.17463	0.313000	0.20887	AGA		0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
ZNF780A	284323	broad.mit.edu	37	19	40581460	40581460	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40581460T>A	ENST00000595687.2	-	6	1098	c.889A>T	c.(889-891)Aaa>Taa	p.K297*	ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.K297*|ZNF780A_ENST00000450241.2_Nonsense_Mutation_p.K263*|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.K298*|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.K298*	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K263*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATGAATTTTCTGATGCTGA	0.383																																					p.K297X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A889T	19						.						185.0	183.0	184.0					19																	40581460		2203	4300	6503	45273300	SO:0001587	stop_gained	284323	exon6			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.889A>T	19.37:g.40581460T>A	ENSP00000472189:p.Lys297*		45273300	NM_001142578	E9PB48|Q6ZN87	Nonsense_Mutation	SNP	ENST00000595687.2	37	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	38	6.943241	0.97952	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	.	.	.	1.92	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.0966	0.09993	0.3139:0.0:0.0:0.6861	.	.	.	.	X	297;298;297	.	ENSP00000341507:K297X	K	-	1	0	ZNF780A	45273300	.	.	0.583000	0.28640	0.943000	0.58893	.	.	0.862000	0.35528	0.254000	0.18369	AAA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
AKT2	208	broad.mit.edu	37	19	40741000	40741000	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:40741000C>T	ENST00000392038.2	-	13	1616	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AKT2_ENST00000579047.1_Missense_Mutation_p.D378N|AKT2_ENST00000424901.1_Missense_Mutation_p.D440N|AKT2_ENST00000311278.6_Missense_Mutation_p.D397N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	440	AGC-kinase C-terminal.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)	p.D440N(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AATTCATCATCGAAGTACCTT	0.632			A		"""ovarian, pancreatic """																																p.D440N			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1318A	19						.						159.0	146.0	150.0					19																	40741000		2203	4300	6503	45432840	SO:0001583	missense	208	exon13			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1318G>A	19.37:g.40741000C>T	ENSP00000375892:p.Asp440Asn		45432840	NM_001626	B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963393	0.97151	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278	D;D;D	0.84800	-1.9;-1.9;-1.9	5.39	5.39	0.77823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.044865	0.85682	D	0.000000	D	0.93485	0.7921	M	0.89968	3.075	0.80722	D	1	P;D;D	0.76494	0.909;0.999;0.992	B;D;P	0.66602	0.436;0.945;0.702	D	0.94334	0.7564	10	0.87932	D	0	.	18.0804	0.89440	0.0:1.0:0.0:0.0	.	378;397;440	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	440;341;440;397	ENSP00000375892:D440N;ENSP00000399532:D440N;ENSP00000309428:D397N	ENSP00000309428:D397N	D	-	1	0	AKT2	45432840	1.000000	0.71417	0.720000	0.30636	0.961000	0.63080	7.403000	0.79983	2.808000	0.96608	0.655000	0.94253	GAT		0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	
RAB4B	53916	broad.mit.edu	37	19	41286341	41286341	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41286341T>C	ENST00000594800.1	+	3	309	c.149T>C	c.(148-150)gTc>gCc	p.V50A	RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.V50A|RAB4B_ENST00000357052.2_Missense_Mutation_p.V50A			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	50					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)	p.V85A(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGGGTGGTCAACGTGGGT	0.592																																					p.V50A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T149C	19						.						90.0	73.0	79.0					19																	41286341		2203	4300	6503	45978181	SO:0001583	missense	53916	exon3			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.149T>C	19.37:g.41286341T>C	ENSP00000470246:p.Val50Ala		45978181	NM_016154	P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965876	0.74131	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	D;D	0.81739	-1.53;-1.53	4.89	4.89	0.63831	Small GTP-binding protein domain (1);	0.069542	0.56097	D	0.000027	D	0.85031	0.5604	M	0.83384	2.64	0.80722	D	1	B;B	0.28820	0.224;0.094	B;B	0.39805	0.264;0.31	D	0.85962	0.1471	10	0.72032	D	0.01	.	13.6226	0.62146	0.0:0.0:0.0:1.0	.	85;50	P61018-2;P61018	.;RAB4B_HUMAN	A	50	ENSP00000349560:V50A;ENSP00000367557:V50A	ENSP00000349560:V50A	V	+	2	0	RAB4B	45978181	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.707000	0.84623	2.052000	0.61016	0.402000	0.26972	GTC		0.592	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154	
CYP2A6	1548	broad.mit.edu	37	19	41349804	41349804	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41349804C>T	ENST00000301141.5	-	9	1402	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	461					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R461H(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGACTTGAGGCGGAAGTTCTG	0.577																																					p.R461H												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1382A	19						.						98.0	75.0	83.0					19																	41349804		2203	4297	6500	46041644	SO:0001583	missense	1548	exon9			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1382G>A	19.37:g.41349804C>T	ENSP00000301141:p.Arg461His		46041644	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	3.742	-0.053278	0.07362	.	.	ENSG00000255974	ENST00000301141	T	0.01359	4.98	2.98	0.723	0.18231	.	0.904496	0.09385	N	0.809439	T	0.01320	0.0043	N	0.25789	0.76	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47058	-0.9146	10	0.44086	T	0.13	.	6.1029	0.20057	0.0:0.5027:0.0:0.4973	.	461	P11509	CP2A6_HUMAN	H	461	ENSP00000301141:R461H	ENSP00000301141:R461H	R	-	2	0	CYP2A6	46041644	0.000000	0.05858	0.297000	0.24988	0.182000	0.23217	-1.176000	0.03099	-0.012000	0.14223	0.386000	0.25728	CGC		0.577	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
CYP2A6	1548	broad.mit.edu	37	19	41356251	41356251	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41356251C>A	ENST00000301141.5	-	1	101	c.81G>T	c.(79-81)agG>agT	p.R27S	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	27					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R27S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTTGCTCTTCCTCTGCTGCC	0.547																																					p.R27S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G81T	19						.						109.0	93.0	98.0					19																	41356251		2203	4299	6502	46048091	SO:0001583	missense	1548	exon1			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.81G>T	19.37:g.41356251C>A	ENSP00000301141:p.Arg27Ser		46048091	NM_000762	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	0.153	-1.088942	0.01873	.	.	ENSG00000255974	ENST00000301141	T	0.70631	-0.5	2.86	-0.876	0.10624	.	0.712341	0.12950	U	0.425845	T	0.52948	0.1766	L	0.37630	1.12	0.09310	N	1	P	0.45283	0.855	B	0.43575	0.424	T	0.50329	-0.8841	10	0.06099	T	0.92	.	6.6343	0.22874	0.0:0.5929:0.0:0.4071	.	27	P11509	CP2A6_HUMAN	S	27	ENSP00000301141:R27S	ENSP00000301141:R27S	R	-	3	2	CYP2A6	46048091	0.000000	0.05858	0.069000	0.20011	0.024000	0.10985	-0.162000	0.10012	-0.003000	0.14444	0.173000	0.16961	AGG		0.547	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762	
CYP2A13	1553	broad.mit.edu	37	19	41594546	41594546	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41594546C>T	ENST00000330436.3	+	1	170	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	57					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.S57F(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ATGTACAACTCCCTCATGAAG	0.612																																					p.S57F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	19						.						91.0	81.0	84.0					19																	41594546		2203	4300	6503	46286386	SO:0001583	missense	1553	exon1			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.170C>T	19.37:g.41594546C>T	ENSP00000332679:p.Ser57Phe		46286386	NM_000766	Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	14.55	2.567535	0.45694	.	.	ENSG00000197838	ENST00000330436	T	0.01203	5.18	3.43	3.43	0.39272	.	0.193852	0.43919	U	0.000502	T	0.04861	0.0131	L	0.58583	1.82	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.05989	-1.0852	10	0.72032	D	0.01	.	12.8036	0.57601	0.0:1.0:0.0:0.0	.	57	Q16696	CP2AD_HUMAN	F	57	ENSP00000332679:S57F	ENSP00000332679:S57F	S	+	2	0	CYP2A13	46286386	0.001000	0.12720	0.905000	0.35620	0.779000	0.44077	1.026000	0.30103	1.928000	0.55862	0.444000	0.29173	TCC		0.612	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
CYP2F1	1572	broad.mit.edu	37	19	41630644	41630644	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41630644G>A	ENST00000331105.2	+	8	1057	c.985G>A	c.(985-987)Gac>Aac	p.D329N		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	329					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.D329N(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGAGGAGATCGACCTCGTGGT	0.672																																					p.D329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	19						.						15.0	16.0	16.0					19																	41630644		2197	4294	6491	46322484	SO:0001583	missense	1572	exon8			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.985G>A	19.37:g.41630644G>A	ENSP00000333534:p.Asp329Asn		46322484	NM_000774	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.530500	0.45073	.	.	ENSG00000197446	ENST00000331105	T	0.71698	-0.59	3.13	3.13	0.36017	.	0.000000	0.85682	U	0.000000	T	0.79149	0.4397	M	0.84082	2.675	0.41508	D	0.98832	D	0.63880	0.993	P	0.54460	0.753	T	0.82406	-0.0473	10	0.54805	T	0.06	.	11.8716	0.52523	0.0:0.0:1.0:0.0	.	329	P24903	CP2F1_HUMAN	N	329	ENSP00000333534:D329N	ENSP00000333534:D329N	D	+	1	0	CYP2F1	46322484	0.855000	0.29742	0.994000	0.49952	0.179000	0.23085	2.238000	0.43070	1.618000	0.50286	0.089000	0.15464	GAC		0.672	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
AXL	558	broad.mit.edu	37	19	41726583	41726583	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41726583A>C	ENST00000301178.4	+	2	318	c.128A>C	c.(127-129)aAt>aCt	p.N43T	AXL_ENST00000359092.3_Missense_Mutation_p.N43T|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	43	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N43T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AACCCAGGGAATATCACAGGT	0.622																																					p.N43T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A128C	19						.						30.0	30.0	30.0					19																	41726583		2203	4298	6501	46418423	SO:0001583	missense	558	exon2			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.128A>C	19.37:g.41726583A>C	ENSP00000301178:p.Asn43Thr		46418423	NM_021913	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.514875	0.27123	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64618	-0.11;-0.11	4.59	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.35040	N	0.003496	T	0.55625	0.1932	L	0.46947	1.48	0.33180	D	0.549424	B;B	0.30455	0.096;0.28	B;B	0.34873	0.12;0.191	T	0.66732	-0.5849	10	0.44086	T	0.13	-25.3566	10.3314	0.43825	1.0:0.0:0.0:0.0	.	43;43	P30530-2;P30530	.;UFO_HUMAN	T	43	ENSP00000301178:N43T;ENSP00000351995:N43T	ENSP00000301178:N43T	N	+	2	0	AXL	46418423	0.891000	0.30450	0.837000	0.33122	0.266000	0.26442	1.964000	0.40462	1.948000	0.56530	0.317000	0.21355	AAT		0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
AXL	558	broad.mit.edu	37	19	41765576	41765576	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41765576G>A	ENST00000301178.4	+	20	2642	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	HNRNPUL1_ENST00000595018.1_5'Flank|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.E550K|AXL_ENST00000359092.3_Missense_Mutation_p.E809K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	818					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E809K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGCCTGACGAAATCCTCTA	0.572																																					p.E818K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2452A	19						.						80.0	78.0	79.0					19																	41765576		2203	4300	6503	46457416	SO:0001583	missense	558	exon20			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2452G>A	19.37:g.41765576G>A	ENSP00000301178:p.Glu818Lys		46457416	NM_021913	Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889403	0.91889	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.74737	-0.87;-0.83	4.85	3.78	0.43462	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	N	0.11845	0.185	0.47245	D	0.999366	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78448	-0.2200	10	0.72032	D	0.01	-2.693	13.2094	0.59815	0.0:0.0:0.8391:0.1609	.	809;818	P30530-2;P30530	.;UFO_HUMAN	K	818;809	ENSP00000301178:E818K;ENSP00000351995:E809K	ENSP00000301178:E818K	E	+	1	0	AXL	46457416	1.000000	0.71417	0.828000	0.32881	0.986000	0.74619	9.030000	0.93725	1.204000	0.43247	0.591000	0.81541	GAA		0.572	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2		
CCDC97	90324	broad.mit.edu	37	19	41825733	41825733	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:41825733G>A	ENST00000269967.3	+	3	879	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	253								p.E253K(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ggaagaggaagaggaggagga	0.607																																					p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	19						.						22.0	21.0	21.0					19																	41825733		2203	4298	6501	46517573	SO:0001583	missense	90324	exon3			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.757G>A	19.37:g.41825733G>A	ENSP00000269967:p.Glu253Lys		46517573	NM_052848	Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429604	0.83776	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.85	4.85	0.62838	.	0.537521	0.17081	N	0.187772	T	0.72203	0.3431	L	0.50333	1.59	0.46499	D	0.999074	D	0.59767	0.986	P	0.61800	0.894	T	0.70364	-0.4892	9	0.37606	T	0.19	-28.06	16.7313	0.85435	0.0:0.0:1.0:0.0	.	253	Q96F63	CCD97_HUMAN	K	253	.	ENSP00000269967:E253K	E	+	1	0	CCDC97	46517573	1.000000	0.71417	0.965000	0.40720	0.462000	0.32619	7.609000	0.82925	2.250000	0.74265	0.462000	0.41574	GAG		0.607	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848	
CEACAM21	90273	broad.mit.edu	37	19	42091817	42091817	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42091817C>A	ENST00000401445.2	+	5	845	c.819C>A	c.(817-819)ttC>ttA	p.F273L	CEACAM21_ENST00000187608.9_Missense_Mutation_p.F272L|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_Missense_Mutation_p.F145L			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	273						integral component of membrane (GO:0016021)		p.F273L(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AGAGTGACTTCAGGGAGCAGC	0.547																																					p.F272L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C816A	19						.						61.0	71.0	67.0					19																	42091817		2184	4297	6481	46783657	SO:0001583	missense	90273	exon5			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.819C>A	19.37:g.42091817C>A	ENSP00000385739:p.Phe273Leu		46783657	NM_033543	B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.030555	0.00410	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.29142	2.82;1.64;1.58	1.18	-0.211	0.13172	.	.	.	.	.	T	0.04952	0.0133	N	0.00151	-1.98	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38265	-0.9669	9	0.08179	T	0.78	.	3.2286	0.06740	0.0:0.5898:0.0:0.4102	.	272;273	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	L	145;272;273	ENSP00000384380:F145L;ENSP00000187608:F272L;ENSP00000385739:F273L	ENSP00000187608:F272L	F	+	3	2	CEACAM21	46783657	0.001000	0.12720	0.001000	0.08648	0.138000	0.21146	-0.164000	0.09983	-0.016000	0.14127	0.123000	0.15791	TTC		0.547	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543	
CEACAM4	1089	broad.mit.edu	37	19	42132031	42132031	+	Missense_Mutation	SNP	C	C	T	rs147125003	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42132031C>T	ENST00000221954.2	-	2	478	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R123Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	123	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.R123Q(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ATTTATGGTTCGTAGGGTGTA	0.557													C|||	7	0.00139776	0.0	0.0101	5008	,	,		16994	0.0		0.0	False		,,,				2504	0.0				p.R123Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	19						.						194.0	164.0	174.0					19																	42132031		2203	4300	6503	46823871	SO:0001583	missense	1089	exon2			D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.368G>A	19.37:g.42132031C>T	ENSP00000221954:p.Arg123Gln		46823871	NM_001817	Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.836839	0.00579	.	.	ENSG00000105352	ENST00000221954	T	0.64085	-0.08	1.82	-3.64	0.04515	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19565	0.0470	N	0.01686	-0.76	0.09310	N	1	B;B	0.30179	0.241;0.271	B;B	0.18871	0.021;0.023	T	0.17379	-1.0371	9	0.02654	T	1	.	0.3907	0.00410	0.2455:0.3191:0.1797:0.2558	.	123;123	E7EMX3;O75871	.;CEAM4_HUMAN	Q	123	ENSP00000221954:R123Q	ENSP00000221954:R123Q	R	-	2	0	CEACAM4	46823871	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.584000	0.05800	-2.152000	0.00794	-0.657000	0.03884	CGA		0.557	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817	
CEACAM7	1087	broad.mit.edu	37	19	42190984	42190984	+	Missense_Mutation	SNP	C	C	T	rs201819691		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42190984C>T	ENST00000006724.3	-	2	434	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R78Q|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R78Q|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R78Q	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	78	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R78Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCCTATAATTCGATAGTTGGC	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		18263	0.0		0.001	False		,,,				2504	0.0				p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	19						.						132.0	141.0	138.0					19																	42190984		2203	4300	6503	46882824	SO:0001583	missense	1087	exon2			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.233G>A	19.37:g.42190984C>T	ENSP00000006724:p.Arg78Gln		46882824	NM_006890	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.178	0.031543	0.08101	.	.	ENSG00000007306	ENST00000006724;ENST00000401731;ENST00000338196	T;T;T	0.65178	-0.14;-0.14;-0.14	1.68	-2.3	0.06785	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36908	0.0984	N	0.16708	0.43	0.09310	N	1	B;B	0.26876	0.162;0.02	B;B	0.22386	0.039;0.018	T	0.16541	-1.0399	9	0.20046	T	0.44	.	5.6702	0.17717	0.0:0.4738:0.0:0.5262	.	78;78	Q14002-2;Q14002	.;CEAM7_HUMAN	Q	78	ENSP00000006724:R78Q;ENSP00000385932:R78Q;ENSP00000343286:R78Q	ENSP00000006724:R78Q	R	-	2	0	CEACAM7	46882824	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-4.080000	0.00299	-0.761000	0.04670	0.313000	0.20887	CGA		0.463	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
CEACAM5	1048	broad.mit.edu	37	19	42224988	42224988	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42224988C>A	ENST00000221992.6	+	8	2032	c.1918C>A	c.(1918-1920)Ctc>Atc	p.L640I	CEACAM5_ENST00000398599.4_Missense_Mutation_p.L639I|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L640I|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	640	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.L640I(2)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACACAAGTTCTCTTTATCGC	0.493																																					p.L640I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1918A	19						.						216.0	172.0	187.0					19																	42224988		2203	4300	6503	46916828	SO:0001583	missense	1048	exon8			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1918C>A	19.37:g.42224988C>A	ENSP00000221992:p.Leu640Ile		46916828	NM_004363	H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.722260|2.722260	0.48728|0.48728	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.29917|.	1.55;1.55|.	2.44|2.44	2.44|2.44	0.29823|0.29823	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.65954|0.65954	0.2741|0.2741	M|M	0.91090|0.91090	3.175|3.175	0.09310|0.09310	N|N	0.999999|0.999999	P;D|.	0.71674|.	0.953;0.998|.	P;D|.	0.83275|.	0.649;0.996|.	T|T	0.57854|0.57854	-0.7739|-0.7739	9|5	0.87932|.	D|.	0|.	.|.	8.474|8.474	0.33001|0.33001	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	640;640|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	I|Y	640;640;358|635	ENSP00000221992:L640I;ENSP00000385072:L640I|.	ENSP00000221992:L640I|.	L|S	+|+	1|2	0|0	CEACAM5|CEACAM5	46916828|46916828	0.027000|0.027000	0.19231|0.19231	0.396000|0.396000	0.26296|0.26296	0.006000|0.006000	0.05464|0.05464	0.690000|0.690000	0.25451|0.25451	1.656000|1.656000	0.50722|0.50722	0.467000|0.467000	0.42956|0.42956	CTC|TCT		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363	
ATP1A3	478	broad.mit.edu	37	19	42471437	42471437	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42471437C>T	ENST00000302102.5	-	22	3127	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E963K|ATP1A3_ENST00000545399.1_Missense_Mutation_p.E1006K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E1004K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	993					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.E993K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGCGGATTTCGTCGTAGACG	0.652																																					p.E993K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2977A	19						.						41.0	41.0	41.0					19																	42471437		2203	4300	6503	47163277	SO:0001583	missense	478	exon22				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2977G>A	19.37:g.42471437C>T	ENSP00000302397:p.Glu993Lys		47163277	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909094	0.92107	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	3.32	3.32	0.38043	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.988;0.999;1.0;0.999	D	0.98304	1.0520	10	0.87932	D	0	.	12.4936	0.55914	0.0:1.0:0.0:0.0	.	1006;1004;993;993	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	993;993;1006;963;1004	ENSP00000302397:E993K;ENSP00000411503:E993K;ENSP00000444688:E1006K;ENSP00000437577:E1004K	ENSP00000302397:E993K	E	-	1	0	ATP1A3	47163277	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	7.533000	0.81994	1.887000	0.54652	0.462000	0.41574	GAA		0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
ATP1A3	478	broad.mit.edu	37	19	42489532	42489532	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42489532C>T	ENST00000302102.5	-	7	800	c.650G>A	c.(649-651)cGc>cAc	p.R217H	ATP1A3_ENST00000602133.1_Missense_Mutation_p.R187H|ATP1A3_ENST00000545399.1_Missense_Mutation_p.R230H|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R228H	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	217					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R217H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCGGGAGAGCGAGTCTGGGG	0.597																																					p.R217H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650A	19						.						86.0	79.0	82.0					19																	42489532		2203	4300	6503	47181372	SO:0001583	missense	478	exon7				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.650G>A	19.37:g.42489532C>T	ENSP00000302397:p.Arg217His		47181372	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733173	0.89482	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.18	4.18	0.49190	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96806	0.8957	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.998;0.997	D	0.98016	1.0368	10	0.87932	D	0	.	14.3808	0.66908	0.0:1.0:0.0:0.0	.	230;228;217;217	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	H	217;217;230;187;228	ENSP00000302397:R217H;ENSP00000411503:R217H;ENSP00000444688:R230H;ENSP00000437577:R228H	ENSP00000302397:R217H	R	-	2	0	ATP1A3	47181372	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.972000	0.70448	2.072000	0.62099	0.478000	0.44815	CGC		0.597	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
GRIK5	2901	broad.mit.edu	37	19	42546895	42546895	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42546895C>T	ENST00000262895.3	-	11	1281	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	GRIK5_ENST00000593562.1_Missense_Mutation_p.V428I|GRIK5_ENST00000301218.4_Missense_Mutation_p.V428I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	428					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.V428I(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGGCGCATGACGTATGGGTTC	0.657																																					p.V428I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1282A	19						.						29.0	25.0	26.0					19																	42546895		2203	4300	6503	47238735	SO:0001583	missense	2901	exon11				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1282G>A	19.37:g.42546895C>T	ENSP00000262895:p.Val428Ile		47238735	NM_002088	Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794922	0.70452	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.78595	-1.19;-1.19	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.72938	0.3523	L	0.45581	1.43	0.37317	D	0.909407	P	0.38370	0.628	B	0.38264	0.269	T	0.78326	-0.2247	10	0.72032	D	0.01	.	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	428	Q16478	GRIK5_HUMAN	I	428	ENSP00000262895:V428I;ENSP00000301218:V428I	ENSP00000262895:V428I	V	-	1	0	GRIK5	47238735	0.887000	0.30362	0.979000	0.43373	0.931000	0.56810	1.602000	0.36783	2.941000	0.99782	0.655000	0.94253	GTC		0.657	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		
POU2F2	5452	broad.mit.edu	37	19	42599739	42599739	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42599739G>T	ENST00000526816.2	-	10	927	c.912C>A	c.(910-912)atC>atA	p.I304I	POU2F2_ENST00000529952.1_Silent_p.I304I|POU2F2_ENST00000529067.1_Silent_p.I288I|POU2F2_ENST00000560558.1_Silent_p.I249I|POU2F2_ENST00000533720.1_Silent_p.I288I|POU2F2_ENST00000560398.1_Silent_p.I310I|POU2F2_ENST00000389341.5_Silent_p.I288I|POU2F2_ENST00000342301.4_Silent_p.I304I			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	304					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I288I(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CGTTTGTCTCGATGCTGGTCC	0.662																																					p.I288I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864A	19						.						36.0	37.0	37.0					19																	42599739		2203	4300	6503	47291579	SO:0001819	synonymous_variant	5452	exon10				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.912C>A	19.37:g.42599739G>T			47291579	NM_002698	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	CCDS56095.1																																																																																				0.662	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
POU2F2	5452	broad.mit.edu	37	19	42600042	42600042	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42600042C>A	ENST00000526816.2	-	9	718	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	POU2F2_ENST00000529952.1_Missense_Mutation_p.D235Y|POU2F2_ENST00000529067.1_Missense_Mutation_p.D219Y|POU2F2_ENST00000560558.1_Missense_Mutation_p.D180Y|POU2F2_ENST00000533720.1_Missense_Mutation_p.D219Y|POU2F2_ENST00000560398.1_Missense_Mutation_p.D241Y|POU2F2_ENST00000389341.5_Missense_Mutation_p.D219Y|POU2F2_ENST00000342301.4_Missense_Mutation_p.D235Y			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	235	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D219Y(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGGCTGAAGTCGTTGCCGTAG	0.637																																					p.D219Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G655T	19						.						116.0	116.0	116.0					19																	42600042		2203	4300	6503	47291882	SO:0001583	missense	5452	exon9				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.703G>T	19.37:g.42600042C>A	ENSP00000431603:p.Asp235Tyr		47291882	NM_002698	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225581	0.79576	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	4.38	3.29	0.37713	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.104975	0.64402	N	0.000007	D	0.88658	0.6496	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.89273	0.3606	10	0.87932	D	0	.	12.4954	0.55925	0.1689:0.8311:0.0:0.0	.	219;235;219	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	Y	219;235;235;219;234;219;235	ENSP00000373992:D219Y;ENSP00000339369:D235Y;ENSP00000437221:D219Y;ENSP00000437224:D219Y;ENSP00000436988:D235Y	ENSP00000292077:D235Y	D	-	1	0	POU2F2	47291882	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.604000	0.82830	1.132000	0.42129	0.555000	0.69702	GAC		0.637	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
POU2F2	5452	broad.mit.edu	37	19	42603753	42603753	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42603753T>G	ENST00000526816.2	-	7	442	c.427A>C	c.(427-429)Aat>Cat	p.N143H	POU2F2_ENST00000529952.1_Missense_Mutation_p.N143H|POU2F2_ENST00000529067.1_Missense_Mutation_p.N143H|POU2F2_ENST00000560558.1_Missense_Mutation_p.N104H|POU2F2_ENST00000533720.1_Missense_Mutation_p.N143H|POU2F2_ENST00000560398.1_Missense_Mutation_p.N165H|POU2F2_ENST00000389341.5_Missense_Mutation_p.N143H|POU2F2_ENST00000342301.4_Missense_Mutation_p.N143H			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	143					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N143H(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGGAATAGATTTGGTGTCGGT	0.597																																					p.N143H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A427C	19						.						50.0	51.0	51.0					19																	42603753		2203	4300	6503	47295593	SO:0001583	missense	5452	exon7				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.427A>C	19.37:g.42603753T>G	ENSP00000431603:p.Asn143His		47295593	NM_002698	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302884	0.81136	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.85258	-1.86;-1.95;-1.96;-1.65;-1.83	4.84	4.84	0.62591	.	0.749959	0.12478	N	0.465449	D	0.91085	0.7194	M	0.69523	2.12	0.54753	D	0.999981	D;D;D	0.65815	0.992;0.989;0.995	D;P;D	0.64776	0.922;0.726;0.929	D	0.90128	0.4204	10	0.62326	D	0.03	.	13.8397	0.63430	0.0:0.0:0.0:1.0	.	143;143;143	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	H	143;143;143;143;142;143;143	ENSP00000373992:N143H;ENSP00000339369:N143H;ENSP00000437221:N143H;ENSP00000437224:N143H;ENSP00000436988:N143H	ENSP00000292077:N143H	N	-	1	0	POU2F2	47295593	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.715000	0.68430	2.168000	0.68352	0.533000	0.62120	AAT		0.597	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
FEM1A	55527	broad.mit.edu	37	19	4793084	4793084	+	Silent	SNP	C	C	T	rs377569506		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:4793084C>T	ENST00000269856.3	+	1	1357	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	406					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.F406F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCAATTTCGAGCGCTGCA	0.622																																					p.F406F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	19						.	C		1,4405	2.1+/-5.4	0,1,2202	61.0	58.0	59.0		1218	-0.4	1.0	19		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FEM1A	NM_018708.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		406/670	4793084	2,13004	2203	4300	6503	4744084	SO:0001819	synonymous_variant	55527	exon1			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1218C>T	19.37:g.4793084C>T			4744084	NM_018708	B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	CCDS12135.1																																																																																				0.622	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1		
DEDD2	162989	broad.mit.edu	37	19	42703605	42703605	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42703605C>T	ENST00000595337.1	-	5	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Silent_p.P317P|DEDD2_ENST00000596251.1_Silent_p.P322P	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	322					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)	p.P322P(1)		endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGGCCTCTGTCGGGCGCCGCC	0.652																																					p.P322P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G966A	19						.						12.0	13.0	12.0					19																	42703605		2194	4273	6467	47395445	SO:0001819	synonymous_variant	162989	exon5			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.966G>A	19.37:g.42703605C>T			47395445	NM_133328	Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Silent	SNP	ENST00000595337.1	37	CCDS12597.1																																																																																				0.652	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328	
ERF	2077	broad.mit.edu	37	19	42754575	42754575	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42754575G>A	ENST00000222329.4	-	2	322	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	55					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.F55F(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CTTTGATGACGAATTCCCCGT	0.612																																					p.F55F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	19						.						59.0	55.0	57.0					19																	42754575		2203	4300	6503	47446415	SO:0001819	synonymous_variant	2077	exon2			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.165C>T	19.37:g.42754575G>A			47446415	NM_006494	B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Silent	SNP	ENST00000222329.4	37	CCDS12600.1																																																																																				0.612	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494	
MEGF8	1954	broad.mit.edu	37	19	42854336	42854336	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42854336T>C	ENST00000251268.6	+	15	2536	c.2536T>C	c.(2536-2538)Tcg>Ccg	p.S846P	MEGF8_ENST00000334370.4_Missense_Mutation_p.S779P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	846					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.S387P(1)|p.S846P(1)|p.S779P(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTACCGCTCGTCGTCCTGCAC	0.647																																					p.S779P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T2335C	19						.						96.0	85.0	89.0					19																	42854336		2203	4300	6503	47546176	SO:0001583	missense	1954	exon14			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2536T>C	19.37:g.42854336T>C	ENSP00000251268:p.Ser846Pro		47546176	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	T	8.045	0.764670	0.15914	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.98	4.74	-1.87	0.07737	.	0.862860	0.10081	N	0.718438	T	0.11707	0.0285	N	0.08118	0	0.09310	N	1	B;B	0.27068	0.167;0.018	B;B	0.32465	0.046;0.146	T	0.38265	-0.9669	10	0.41790	T	0.15	0.0027	10.9015	0.47054	0.1158:0.0:0.6716:0.2125	.	846;779	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	P	779;846	ENSP00000334219:S779P;ENSP00000251268:S846P	ENSP00000251268:S846P	S	+	1	0	MEGF8	47546176	0.506000	0.26139	0.000000	0.03702	0.075000	0.17131	2.708000	0.47152	-0.360000	0.08138	-0.488000	0.04728	TCG		0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MEGF8	1954	broad.mit.edu	37	19	42854509	42854509	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42854509G>T	ENST00000251268.6	+	15	2709	c.2709G>T	c.(2707-2709)gaG>gaT	p.E903D	MEGF8_ENST00000334370.4_Missense_Mutation_p.E836D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	903	PSI 3.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.E444D(1)|p.E836D(1)|p.E903D(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCTGCGAGGAGCATCGGGACT	0.692																																					p.E836D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2508T	19						.						14.0	15.0	15.0					19																	42854509		2200	4293	6493	47546349	SO:0001583	missense	1954	exon14			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2709G>T	19.37:g.42854509G>T	ENSP00000251268:p.Glu903Asp		47546349	NM_001410	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	11.94	1.787320	0.31593	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20881	2.04;2.04	4.93	3.89	0.44902	.	0.000000	0.64402	D	0.000001	T	0.22859	0.0552	L	0.28274	0.84	0.80722	D	1	B;D	0.64830	0.236;0.994	B;P	0.60541	0.056;0.876	T	0.07121	-1.0789	10	0.13853	T	0.58	-23.7079	7.7426	0.28849	0.1908:0.0:0.8092:0.0	.	903;836	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	D	836;903	ENSP00000334219:E836D;ENSP00000251268:E903D	ENSP00000251268:E903D	E	+	3	2	MEGF8	47546349	0.997000	0.39634	1.000000	0.80357	0.871000	0.50021	0.290000	0.18975	1.076000	0.40961	0.561000	0.74099	GAG		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
MEGF8	1954	broad.mit.edu	37	19	42866667	42866667	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:42866667C>T	ENST00000251268.6	+	34	5976	c.5976C>T	c.(5974-5976)tcC>tcT	p.S1992S	MEGF8_ENST00000334370.4_Silent_p.S1925S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1992					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.S1992S(1)|p.S1925S(1)|p.S1533S(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGAACTGCTCCGAGGCTGCGT	0.622																																					p.S1925S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C5775T	19						.						99.0	89.0	92.0					19																	42866667		2203	4300	6503	47558507	SO:0001819	synonymous_variant	1954	exon33			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5976C>T	19.37:g.42866667C>T			47558507	NM_001410	A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37																																																																																					0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
PSG8	440533	broad.mit.edu	37	19	43259228	43259228	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:43259228G>T	ENST00000306511.4	-	4	997	c.900C>A	c.(898-900)gtC>gtA	p.V300V	PSG8_ENST00000401467.2_Silent_p.V207V|PSG8_ENST00000406636.3_Silent_p.V178V|PSG8_ENST00000404209.4_Silent_p.V300V|PSG8_ENST00000600709.1_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	300	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.V300V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATTTCTCGTGACACTGGGTA	0.478																																					p.V178V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	19						.						124.0	126.0	126.0					19																	43259228		2203	4297	6500	47951068	SO:0001819	synonymous_variant	440533	exon3			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.900C>A	19.37:g.43259228G>T			47951068	NM_001130168	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	CCDS33037.1																																																																																				0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
PSG1	5669	broad.mit.edu	37	19	43372314	43372314	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:43372314G>A	ENST00000436291.2	-	5	1298	c.1182C>T	c.(1180-1182)tgC>tgT	p.C394C	PSG1_ENST00000595356.1_Silent_p.C394C|PSG1_ENST00000312439.6_Silent_p.C394C|PSG1_ENST00000244296.2_Silent_p.C394C|PSG1_ENST00000595124.1_Silent_p.C301C|PSG1_ENST00000403380.3_Silent_p.C301C	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	394	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.C394C(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TACGAACAGAGCAAACATAGA	0.453																																					p.C394C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1182T	19						.						200.0	203.0	202.0					19																	43372314		2202	4298	6500	48064154	SO:0001819	synonymous_variant	5669	exon5				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1182C>T	19.37:g.43372314G>A			48064154	NM_006905	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	ENST00000436291.2	37	CCDS54275.1																																																																																				0.453	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		
PSG11	5680	broad.mit.edu	37	19	43519305	43519305	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:43519305G>A	ENST00000401740.1	-	4	1030	c.927C>T	c.(925-927)ggC>ggT	p.G309G	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Silent_p.G187G|PSG11_ENST00000320078.7_Silent_p.G309G|PSG11_ENST00000306322.7_Silent_p.G187G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	318	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G309G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AGCTTTCCTCGCCAGTGGCTG	0.463																																					p.G187G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	19						.						143.0	136.0	139.0					19																	43519305		2199	4296	6495	48211145	SO:0001819	synonymous_variant	5680	exon3			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.927C>T	19.37:g.43519305G>A			48211145	NM_203287	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																				0.463	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	
PSG9	5678	broad.mit.edu	37	19	43772123	43772123	+	Silent	SNP	C	C	T	rs376642216		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:43772123C>T	ENST00000270077.3	-	2	339	c.243G>A	c.(241-243)tcG>tcA	p.S81S	PSG9_ENST00000291752.5_Silent_p.S81S|PSG9_ENST00000418820.2_Silent_p.S81S|PSG9_ENST00000596730.1_Silent_p.S81S|PSG9_ENST00000244293.7_Silent_p.S81S|PSG9_ENST00000593948.1_Silent_p.S81S|PSG9_ENST00000443718.3_Silent_p.S81S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	81	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S81S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAACTATATACGATATAATGT	0.423																																					p.S81S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	19						.	T		0,4406		0,0,2203	176.0	178.0	178.0		243	-0.9	0.0	19		178	4,8596	819.0+/-406.8	0,4,4296	no	coding-synonymous	PSG9	NM_002784.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		81/427	43772123	4,13002	2203	4300	6503	48463963	SO:0001819	synonymous_variant	5678	exon2			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.243G>A	19.37:g.43772123C>T			48463963	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	t	0.903	-0.721690	0.03182	0.0	4.65E-4	ENSG00000183668	ENST00000418820	.	.	.	1.56	-0.884	0.10597	.	.	.	.	.	T	0.21468	0.0517	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	2.7007	0.05148	0.2008:0.2645:0.0:0.5347	.	.	.	.	H	68	.	.	R	-	2	0	PSG9	48463963	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.734000	0.04893	-2.083000	0.00867	-4.055000	0.00012	CGT		0.423	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
PLAUR	5329	broad.mit.edu	37	19	44153066	44153066	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44153066C>A	ENST00000340093.3	-	7	1213	c.984G>T	c.(982-984)tgG>tgT	p.W328C	PLAUR_ENST00000339082.3_Intron|PLAUR_ENST00000601723.1_Missense_Mutation_p.W279C|PLAUR_ENST00000221264.4_Missense_Mutation_p.W283C	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	328					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.W328C(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAGTGCCTCCCCACAGTCTGG	0.632																																					p.W283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G849T	19						.						84.0	75.0	78.0					19																	44153066		2203	4300	6503	48844906	SO:0001583	missense	5329	exon6				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.984G>T	19.37:g.44153066C>A	ENSP00000339328:p.Trp328Cys		48844906	NM_001005377	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357724	0.41801	.	.	ENSG00000011422	ENST00000340093;ENST00000221264	T;T	0.12039	2.73;2.72	3.84	2.8	0.32819	.	0.390578	0.19114	N	0.122347	T	0.27419	0.0673	M	0.62723	1.935	0.52501	D	0.999951	D;D	0.76494	0.999;0.998	D;P	0.64237	0.923;0.84	T	0.02009	-1.1230	10	0.87932	D	0	-14.1511	7.355	0.26714	0.0:0.88:0.0:0.12	.	283;328	Q03405-3;Q03405	.;UPAR_HUMAN	C	328;283	ENSP00000339328:W328C;ENSP00000221264:W283C	ENSP00000221264:W283C	W	-	3	0	PLAUR	48844906	1.000000	0.71417	0.953000	0.39169	0.744000	0.42396	2.913000	0.48790	1.199000	0.43173	0.313000	0.20887	TGG		0.632	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659	
ZNF283	284349	broad.mit.edu	37	19	44352357	44352357	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44352357G>T	ENST00000324461.7	+	7	1901	c.1604G>T	c.(1603-1605)aGa>aTa	p.R535I	ZNF283_ENST00000588797.1_Missense_Mutation_p.R396I	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	535					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.R535I(1)|p.R535K(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACATGAAAGAATCCATACA	0.413																																					p.R535I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1604T	19						.						72.0	81.0	78.0					19																	44352357		2202	4296	6498	49044197	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1604G>T	19.37:g.44352357G>T	ENSP00000327314:p.Arg535Ile		49044197	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746595	0.49257	.	.	ENSG00000167637	ENST00000324461	T	0.24908	1.83	2.48	2.48	0.30137	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46288	0.1385	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.46076	-0.9217	9	0.62326	D	0.03	.	9.1756	0.37109	0.0:0.226:0.774:0.0	.	535	Q8N7M2	ZN283_HUMAN	I	535	ENSP00000327314:R535I	ENSP00000327314:R535I	R	+	2	0	ZNF283	49044197	0.000000	0.05858	0.858000	0.33744	0.751000	0.42716	0.269000	0.18589	1.366000	0.46076	0.462000	0.41574	AGA		0.413	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF283	284349	broad.mit.edu	37	19	44352544	44352544	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44352544G>T	ENST00000324461.7	+	7	2088	c.1791G>T	c.(1789-1791)aaG>aaT	p.K597N	ZNF283_ENST00000588797.1_Missense_Mutation_p.K458N	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	597					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.K597N(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTAATGAGAAGTCTTATGAAT	0.418																																					p.K597N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1791T	19						.						90.0	100.0	97.0					19																	44352544		2164	4279	6443	49044384	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1791G>T	19.37:g.44352544G>T	ENSP00000327314:p.Lys597Asn		49044384	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	G	4.372	0.068646	0.08436	.	.	ENSG00000167637	ENST00000324461	T	0.26067	1.76	2.2	-2.62	0.06152	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46014	0.1371	M	0.84585	2.705	0.58432	D	0.999992	P	0.46578	0.88	P	0.61477	0.889	T	0.48768	-0.9006	9	0.72032	D	0.01	.	8.4739	0.33001	0.5119:0.0:0.4881:0.0	.	597	Q8N7M2	ZN283_HUMAN	N	597	ENSP00000327314:K597N	ENSP00000327314:K597N	K	+	3	2	ZNF283	49044384	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.047000	0.03521	-0.858000	0.04110	-0.471000	0.05019	AAG		0.418	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF404	342908	broad.mit.edu	37	19	44377174	44377174	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44377174G>T	ENST00000587539.1	-	3	1191	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	ZNF404_ENST00000324394.6_Missense_Mutation_p.L396I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L396I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TGTTGAATAAGATATGAATGA	0.378																																					p.L395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183A	19						.						33.0	35.0	35.0					19																	44377174		2189	4295	6484	49069014	SO:0001583	missense	342908	exon2			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1192C>A	19.37:g.44377174G>T	ENSP00000466051:p.Leu398Ile		49069014	NM_001033719	A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177684	0.21787	.	.	ENSG00000176222	ENST00000324394	T	0.14640	2.49	2.17	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41396	0.1157	M	0.90198	3.095	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.11203	-1.0597	9	0.72032	D	0.01	.	9.4773	0.38880	0.0:0.0:1.0:0.0	.	398	Q494X3	ZN404_HUMAN	I	396	ENSP00000319479:L396I	ENSP00000319479:L396I	L	-	1	0	ZNF404	49069014	0.995000	0.38212	0.877000	0.34402	0.344000	0.29017	2.823000	0.48081	1.193000	0.43086	0.404000	0.27445	CTT		0.378	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	
ZNF404	342908	broad.mit.edu	37	19	44377349	44377349	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44377349G>A	ENST00000587539.1	-	3	1016	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	ZNF404_ENST00000324394.6_Silent_p.G337G	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	339					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.G337G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GAAGGCTTGAGCCCTTACCAA	0.408																																					p.G336G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	19						.						63.0	69.0	67.0					19																	44377349		2095	4263	6358	49069189	SO:0001819	synonymous_variant	342908	exon2			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.1017C>T	19.37:g.44377349G>A			49069189	NM_001033719	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																				0.408	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	
ZNF221	7638	broad.mit.edu	37	19	44469104	44469104	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44469104G>T	ENST00000251269.5	+	4	412	c.84G>T	c.(82-84)gaG>gaT	p.E28D	ZNF221_ENST00000587682.1_Missense_Mutation_p.E28D|ZNF221_ENST00000592350.1_Missense_Mutation_p.E28D	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	28					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.E28D(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TATTTTAGGAGGCAGTGACAT	0.478																																					p.E28D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G84T	19						.						311.0	312.0	312.0					19																	44469104		2203	4300	6503	49160944	SO:0001583	missense	7638	exon4			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.84G>T	19.37:g.44469104G>T	ENSP00000251269:p.Glu28Asp		49160944	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422969	0.43020	.	.	ENSG00000159905	ENST00000539505;ENST00000251269	T	0.00824	5.65	2.64	-1.01	0.10169	Krueppel-associated box (1);	.	.	.	.	T	0.01765	0.0056	L	0.28740	0.885	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52109	-0.8619	9	0.33141	T	0.24	.	5.9363	0.19167	0.4019:0.0:0.5981:0.0	.	28	Q9UK13	ZN221_HUMAN	D	6;28	ENSP00000251269:E28D	ENSP00000251269:E28D	E	+	3	2	ZNF221	49160944	0.030000	0.19436	0.005000	0.12908	0.184000	0.23303	0.225000	0.17757	-0.267000	0.09325	0.462000	0.41574	GAG		0.478	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF221	7638	broad.mit.edu	37	19	44470048	44470048	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44470048G>T	ENST00000251269.5	+	6	722	c.394G>T	c.(394-396)Gac>Tac	p.D132Y	ZNF221_ENST00000587682.1_Missense_Mutation_p.D132Y|ZNF221_ENST00000592350.1_Missense_Mutation_p.D132Y	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D132Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AATTGCAAGTGACCTAACCAG	0.448																																					p.D132Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394T	19						.						96.0	87.0	90.0					19																	44470048		2203	4300	6503	49161888	SO:0001583	missense	7638	exon6			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.394G>T	19.37:g.44470048G>T	ENSP00000251269:p.Asp132Tyr		49161888	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	10.36	1.327705	0.24080	.	.	ENSG00000159905	ENST00000251269	T	0.06142	3.34	2.54	0.268	0.15626	.	.	.	.	.	T	0.09379	0.0231	L	0.38175	1.15	0.09310	N	1	D	0.76494	0.999	D	0.68353	0.957	T	0.09443	-1.0674	9	0.05436	T	0.98	.	5.6328	0.17520	0.2912:0.0:0.7088:0.0	.	132	Q9UK13	ZN221_HUMAN	Y	132	ENSP00000251269:D132Y	ENSP00000251269:D132Y	D	+	1	0	ZNF221	49161888	0.001000	0.12720	0.000000	0.03702	0.160000	0.22226	0.924000	0.28777	-0.001000	0.14495	-0.379000	0.06801	GAC		0.448	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF221	7638	broad.mit.edu	37	19	44470321	44470321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44470321G>T	ENST00000251269.5	+	6	995	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	ZNF221_ENST00000587682.1_Nonsense_Mutation_p.E223*|ZNF221_ENST00000592350.1_Nonsense_Mutation_p.E223*	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E223*(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CCATATGGGAGAAAAATGCTA	0.413																																					p.E223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G667T	19						.						132.0	138.0	136.0					19																	44470321		2203	4300	6503	49162161	SO:0001587	stop_gained	7638	exon6			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.667G>T	19.37:g.44470321G>T	ENSP00000251269:p.Glu223*		49162161	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Nonsense_Mutation	SNP	ENST00000251269.5	37	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	g	31	5.075493	0.94000	.	.	ENSG00000159905	ENST00000251269	.	.	.	2.65	-1.47	0.08772	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.7502	0.28892	0.3271:0.0:0.6729:0.0	.	.	.	.	X	223	.	ENSP00000251269:E223X	E	+	1	0	ZNF221	49162161	0.075000	0.21258	0.000000	0.03702	0.128000	0.20619	0.563000	0.23547	-0.327000	0.08551	0.462000	0.41574	GAA		0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF221	7638	broad.mit.edu	37	19	44470518	44470518	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44470518G>A	ENST00000251269.5	+	6	1192	c.864G>A	c.(862-864)ggG>ggA	p.G288G	ZNF221_ENST00000587682.1_Silent_p.G288G|ZNF221_ENST00000592350.1_Silent_p.G288G	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G288G(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGGAATGTGGGAAAGCCTTCA	0.408																																					p.G288G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G864A	19						.						128.0	129.0	129.0					19																	44470518		2203	4300	6503	49162358	SO:0001819	synonymous_variant	7638	exon6			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.864G>A	19.37:g.44470518G>A			49162358	NM_013359	B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	CCDS12633.1																																																																																				0.408	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1		
ZNF222	7673	broad.mit.edu	37	19	44536220	44536220	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44536220C>T	ENST00000187879.8	+	4	555	c.393C>T	c.(391-393)ttC>ttT	p.F131F	ZNF222_ENST00000391960.3_Silent_p.F171F|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	131					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.F131F(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATGTTTCCTTCTTTGATCTTC	0.398																																					p.F131F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	19						.						132.0	134.0	133.0					19																	44536220		2203	4300	6503	49228060	SO:0001819	synonymous_variant	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.393C>T	19.37:g.44536220C>T			49228060	NM_013360	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	ENST00000187879.8	37	CCDS33045.1																																																																																				0.398	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF222	7673	broad.mit.edu	37	19	44536702	44536702	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44536702G>A	ENST00000187879.8	+	4	1037	c.875G>A	c.(874-876)aGa>aAa	p.R292K	ZNF222_ENST00000391960.3_Missense_Mutation_p.R332K|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R292K(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AAGTATGGAAGAGGTTTCATT	0.383																																					p.R292K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G875A	19						.						131.0	133.0	132.0					19																	44536702		2203	4300	6503	49228542	SO:0001583	missense	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.875G>A	19.37:g.44536702G>A	ENSP00000187879:p.Arg292Lys		49228542	NM_013360	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.513184	0.00975	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.34275	3.73;1.37	2.72	0.438	0.16560	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12347	0.0300	N	0.04994	-0.135	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.32025	-0.9922	9	0.02654	T	1	.	3.6429	0.08173	0.558:0.1965:0.2455:0.0	.	332;292	G5E9B9;Q9UK12	.;ZN222_HUMAN	K	332;292;238	ENSP00000375822:R332K;ENSP00000187879:R292K	ENSP00000187879:R292K	R	+	2	0	ZNF222	49228542	0.974000	0.33945	0.003000	0.11579	0.035000	0.12851	2.527000	0.45615	-0.106000	0.12110	0.205000	0.17691	AGA		0.383	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF222	7673	broad.mit.edu	37	19	44536776	44536776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44536776G>T	ENST00000187879.8	+	4	1111	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	ZNF222_ENST00000391960.3_Nonsense_Mutation_p.E357*|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	317					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.E317*(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TAATTGTAAAGAATGTGGGAA	0.398																																					p.E317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G949T	19						.						113.0	113.0	113.0					19																	44536776		2203	4300	6503	49228616	SO:0001587	stop_gained	7673	exon4			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.949G>T	19.37:g.44536776G>T	ENSP00000187879:p.Glu317*		49228616	NM_013360	G5E9B9|Q8N6G7|Q9P1U5	Nonsense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269292	0.95429	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	.	.	.	2.99	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1631	0.59554	0.0:0.0:1.0:0.0	.	.	.	.	X	357;317;263	.	ENSP00000187879:E317X	E	+	1	0	ZNF222	49228616	0.000000	0.05858	0.012000	0.15200	0.835000	0.47333	0.009000	0.13219	1.643000	0.50594	0.205000	0.17691	GAA		0.398	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
ZNF223	7766	broad.mit.edu	37	19	44570386	44570386	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44570386G>A	ENST00000434772.3	+	5	660	c.405G>A	c.(403-405)gaG>gaA	p.E135E	ZNF223_ENST00000591793.1_Silent_p.E245E	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	135					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.E135E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CCCAGGTTGAGGAAGGACTAT	0.433																																					p.E135E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G405A	19						.						105.0	87.0	93.0					19																	44570386		2203	4300	6503	49262226	SO:0001819	synonymous_variant	7766	exon5			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.405G>A	19.37:g.44570386G>A			49262226	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																				0.433	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2		
ZNF284	342909	broad.mit.edu	37	19	44590315	44590315	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44590315G>T	ENST00000421176.3	+	5	900	c.684G>T	c.(682-684)gaG>gaT	p.E228D	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	228					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.E228D(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ACACTGGAGAGAAACCATTCA	0.403																																					p.E228D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G684T	19						.						70.0	77.0	74.0					19																	44590315		2199	4298	6497	49282155	SO:0001583	missense	342909	exon5			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.684G>T	19.37:g.44590315G>T	ENSP00000411032:p.Glu228Asp		49282155	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559607	0.65538	.	.	ENSG00000186026	ENST00000421176	T	0.26810	1.71	2.59	1.52	0.23074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39989	0.1099	L	0.54908	1.71	0.20638	N	0.999879	D	0.57257	0.979	D	0.63597	0.916	T	0.13872	-1.0493	9	0.72032	D	0.01	.	8.6192	0.33851	0.1258:0.0:0.8742:0.0	.	228	Q2VY69	ZN284_HUMAN	D	228	ENSP00000411032:E228D	ENSP00000411032:E228D	E	+	3	2	ZNF284	49282155	0.897000	0.30589	0.052000	0.19188	0.526000	0.34562	0.405000	0.21015	0.403000	0.25479	-0.448000	0.05591	GAG		0.403	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
ZNF284	342909	broad.mit.edu	37	19	44591113	44591113	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44591113G>T	ENST00000421176.3	+	5	1698	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	494					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.E494D(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GGTTTACTGAGAATTCAAAAC	0.418																																					p.E494D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1482T	19						.						49.0	52.0	51.0					19																	44591113		2143	4277	6420	49282953	SO:0001583	missense	342909	exon5			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1482G>T	19.37:g.44591113G>T	ENSP00000411032:p.Glu494Asp		49282953	NM_001037813	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540453	0.45176	.	.	ENSG00000186026	ENST00000421176	T	0.14766	2.48	2.37	-0.272	0.12919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.01493	-0.835	0.09310	N	1	B	0.33345	0.409	B	0.38755	0.281	T	0.40608	-0.9554	9	0.40728	T	0.16	.	6.3152	0.21186	0.0:0.3818:0.4237:0.1945	.	494	Q2VY69	ZN284_HUMAN	D	494	ENSP00000411032:E494D	ENSP00000411032:E494D	E	+	3	2	ZNF284	49282953	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-1.789000	0.01761	-0.105000	0.12132	0.462000	0.41574	GAG		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813	
ZNF224	7767	broad.mit.edu	37	19	44610659	44610659	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44610659G>T	ENST00000336976.6	+	6	600	c.346G>T	c.(346-348)Gac>Tac	p.D116Y	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	116					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D116Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CAGGTCTCAAGACTTGATGAT	0.433																																					p.D116Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346T	19						.						80.0	79.0	79.0					19																	44610659		2203	4300	6503	49302499	SO:0001583	missense	7767	exon6			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.346G>T	19.37:g.44610659G>T	ENSP00000337368:p.Asp116Tyr		49302499	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	13.54	2.269135	0.40095	.	.	ENSG00000186019	ENST00000336976	T	0.06528	3.29	2.88	0.603	0.17541	.	.	.	.	.	T	0.10121	0.0248	L	0.52905	1.665	0.09310	N	1	P	0.44659	0.84	P	0.47891	0.56	T	0.19063	-1.0317	9	0.72032	D	0.01	.	6.9297	0.24434	0.2455:0.0:0.7545:0.0	.	116	Q9NZL3	ZN224_HUMAN	Y	116	ENSP00000337368:D116Y	ENSP00000337368:D116Y	D	+	1	0	ZNF224	49302499	0.003000	0.15002	0.002000	0.10522	0.091000	0.18340	0.823000	0.27366	0.248000	0.21435	0.591000	0.81541	GAC		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF225	7768	broad.mit.edu	37	19	44635438	44635438	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44635438G>T	ENST00000262894.6	+	5	951	c.671G>T	c.(670-672)aGa>aTa	p.R224I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R224I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R224I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ATTCATCAGAGAATCCACACT	0.413																																					p.R224I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G671T	19						.						78.0	85.0	83.0					19																	44635438		2202	4300	6502	49327278	SO:0001583	missense	7768	exon5			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.671G>T	19.37:g.44635438G>T	ENSP00000262894:p.Arg224Ile		49327278	NM_013362	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800613	0.70567	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.97	-5.95	0.02241	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31482	0.0798	L	0.49350	1.555	0.09310	N	1	D	0.61080	0.989	D	0.66497	0.944	T	0.18116	-1.0347	9	0.52906	T	0.07	.	2.2958	0.04150	0.3514:0.1171:0.4138:0.1178	.	224	Q9UK10	ZN225_HUMAN	I	224;188	ENSP00000262894:R224I	ENSP00000262894:R224I	R	+	2	0	ZNF225	49327278	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-2.856000	0.00729	-1.314000	0.02300	-0.258000	0.10820	AGA		0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1		
ZNF225	7768	broad.mit.edu	37	19	44636464	44636464	+	Missense_Mutation	SNP	G	G	T	rs192190840	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44636464G>T	ENST00000262894.6	+	5	1977	c.1697G>T	c.(1696-1698)aGa>aTa	p.R566I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R566I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	566					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.R566I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				ACCGGAGAGAGACCTTATAAT	0.433																																					p.R566I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1697T	19						.						73.0	79.0	77.0					19																	44636464		2200	4297	6497	49328304	SO:0001583	missense	7768	exon5			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1697G>T	19.37:g.44636464G>T	ENSP00000262894:p.Arg566Ile		49328304	NM_013362	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761129	0.49468	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.20332	2.08	2.76	0.546	0.17196	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44180	0.1281	M	0.86864	2.845	0.34810	D	0.737603	D	0.63046	0.992	D	0.69142	0.962	T	0.53725	-0.8398	9	0.87932	D	0	.	6.5561	0.22462	0.7952:0.0:0.2048:0.0	.	566	Q9UK10	ZN225_HUMAN	I	566;530	ENSP00000262894:R566I	ENSP00000262894:R566I	R	+	2	0	ZNF225	49328304	0.024000	0.19004	0.019000	0.16419	0.139000	0.21198	0.510000	0.22723	-0.061000	0.13110	-0.291000	0.09656	AGA		0.433	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1		
ZNF227	7770	broad.mit.edu	37	19	44739551	44739551	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44739551C>A	ENST00000313040.7	+	6	1173	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	ZNF227_ENST00000391961.2_Missense_Mutation_p.S272Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.S272Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S323Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				GGAGAGAAGTCTTATAGATGC	0.403																																					p.S323Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968A	19						.						64.0	66.0	65.0					19																	44739551		2203	4300	6503	49431391	SO:0001583	missense	7770	exon6			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.968C>A	19.37:g.44739551C>A	ENSP00000321049:p.Ser323Tyr		49431391	NM_182490	B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581879	0.28180	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.18338	2.22;2.22	4.79	3.73	0.42828	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31420	0.0796	L	0.60012	1.86	0.80722	D	1	P;P;P;P	0.49253	0.921;0.921;0.921;0.921	P;P;P;P	0.55222	0.771;0.771;0.771;0.771	T	0.07927	-1.0747	9	0.87932	D	0	.	14.0265	0.64588	0.0:0.847:0.153:0.0	.	244;302;275;323	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Y	323;280;272;302;24	ENSP00000321049:S323Y;ENSP00000375823:S272Y	ENSP00000321049:S323Y	S	+	2	0	ZNF227	49431391	0.856000	0.29760	0.673000	0.29887	0.148000	0.21650	3.045000	0.49838	1.104000	0.41587	0.563000	0.77884	TCT		0.403	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490	
ZNF233	353355	broad.mit.edu	37	19	44778627	44778627	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44778627C>T	ENST00000391958.2	+	5	1941	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.S587L|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	605					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.S605L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCTGGAACTCATATCTTCAT	0.448																																					p.S605L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1814T	19						.						98.0	97.0	97.0					19																	44778627		2203	4300	6503	49470467	SO:0001583	missense	353355	exon5			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1814C>T	19.37:g.44778627C>T	ENSP00000375820:p.Ser605Leu		49470467	NM_181756	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849577	0.51270	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.07908	3.15;3.15	4.08	-0.951	0.10369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	M	0.63428	1.95	0.09310	N	1	B	0.25007	0.116	B	0.23852	0.049	T	0.37979	-0.9682	9	0.49607	T	0.09	-0.4458	2.081	0.03635	0.1414:0.3978:0.2775:0.1833	.	605	A6NK53	ZN233_HUMAN	L	587;605;500	ENSP00000334957:S587L;ENSP00000375820:S605L	ENSP00000280305:S500L	S	+	2	0	ZNF233	49470467	0.000000	0.05858	0.001000	0.08648	0.987000	0.75469	-0.120000	0.10660	0.306000	0.22856	-0.192000	0.12808	TCA		0.448	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
ZNF112	7771	broad.mit.edu	37	19	44831976	44831976	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44831976C>A	ENST00000337401.4	-	5	2440	c.2352G>T	c.(2350-2352)aaG>aaT	p.K784N	ZNF112_ENST00000536500.1_Missense_Mutation_p.K801N|ZNF112_ENST00000354340.4_Missense_Mutation_p.K778N	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	784					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.K778N(1)									CACTGAAACCCTTTGTACACA	0.488																																					p.K778N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2334T	19						.						218.0	207.0	211.0					19																	44831976		2203	4300	6503	49523816	SO:0001583	missense	7771	exon4			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2352G>T	19.37:g.44831976C>A	ENSP00000337081:p.Lys784Asn		49523816	NM_013380	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055721	0.55325	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.07908	3.15;3.15;3.15	5.18	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35708	N	0.003029	T	0.29126	0.0724	M	0.89287	3.02	0.36406	D	0.863452	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.32402	-0.9908	10	0.87932	D	0	-24.3371	7.311	0.26475	0.0:0.6867:0.0:0.3133	.	783;801;784	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	N	784;784;778;801;783	ENSP00000337081:K784N;ENSP00000346305:K778N;ENSP00000441990:K801N	ENSP00000253426:K783N	K	-	3	2	ZNF285	49523816	0.005000	0.15991	1.000000	0.80357	0.960000	0.62799	0.060000	0.14342	1.328000	0.45358	-0.251000	0.11542	AAG		0.488	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF285	26974	broad.mit.edu	37	19	44892168	44892168	+	Missense_Mutation	SNP	C	C	A	rs73039940	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44892168C>A	ENST00000330997.4	-	4	303	c.239G>T	c.(238-240)aGg>aTg	p.R80M	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.R80M|ZNF285_ENST00000591679.1_Missense_Mutation_p.R87M	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R80M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATCCCGGATCCTTTGTTTCCA	0.433																																					p.R80M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239T	19						.						89.0	91.0	90.0					19																	44892168		2203	4300	6503	49584008	SO:0001583	missense	26974	exon4			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.239G>T	19.37:g.44892168C>A	ENSP00000333595:p.Arg80Met		49584008	NM_152354	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332817	0.24167	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06933	3.24	3.14	-0.384	0.12474	Krueppel-associated box (1);	.	.	.	.	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	P;P	0.50943	0.94;0.94	P;P	0.47075	0.536;0.536	T	0.32719	-0.9896	9	0.46703	T	0.11	.	5.6402	0.17559	0.0:0.5993:0.0:0.4007	.	104;80	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	103;80	ENSP00000333595:R80M	ENSP00000333595:R80M	R	-	2	0	ZNF285	49584008	0.000000	0.05858	0.137000	0.22149	0.400000	0.30750	-3.112000	0.00599	-0.246000	0.09611	-0.396000	0.06452	AGG		0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
ZNF180	7733	broad.mit.edu	37	19	44981207	44981207	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44981207C>T	ENST00000221327.4	-	5	1772	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Silent_p.Q472Q|ZNF180_ENST00000592529.1_Silent_p.Q470Q|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	497					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.Q497Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTTCCCACACTGATTGCATT	0.363																																					p.Q497Q	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1491A	19						.						70.0	69.0	69.0					19																	44981207		2203	4300	6503	49673047	SO:0001819	synonymous_variant	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1491G>A	19.37:g.44981207C>T			49673047	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	CCDS12639.1																																																																																				0.363	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981328	44981328	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44981328C>A	ENST00000221327.4	-	5	1651	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R432I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R430I|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	457					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.R457I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GGTATGTGTTCTTTGATGTGC	0.383																																					p.R457I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1370T	19						.						75.0	77.0	76.0					19																	44981328		2203	4299	6502	49673168	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1370G>T	19.37:g.44981328C>A	ENSP00000221327:p.Arg457Ile		49673168	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728086	0.69074	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.02446	4.29;4.29	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000307	T	0.15262	0.0368	M	0.71296	2.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	T	0.00124	-1.2023	10	0.87932	D	0	-16.9226	17.5112	0.87760	0.0:1.0:0.0:0.0	.	432;456;457	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	457;432	ENSP00000221327:R457I;ENSP00000375818:R432I	ENSP00000221327:R457I	R	-	2	0	ZNF180	49673168	0.000000	0.05858	1.000000	0.80357	0.858000	0.48976	0.565000	0.23578	2.409000	0.81822	0.460000	0.39030	AGA		0.383	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					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.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					p.R401I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1202T	19						.						66.0	68.0	67.0					19																	44981496		2203	4300	6503	49673336	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile		49673336	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
ZNF180	7733	broad.mit.edu	37	19	44981994	44981994	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:44981994C>A	ENST00000221327.4	-	5	985	c.704G>T	c.(703-705)aGt>aTt	p.S235I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.S210I|ZNF180_ENST00000592529.1_Missense_Mutation_p.S208I|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S235I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTCTGATGACTGTTTACAGC	0.338																																					p.S235I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G704T	19						.						86.0	86.0	86.0					19																	44981994		2203	4300	6503	49673834	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.704G>T	19.37:g.44981994C>A	ENSP00000221327:p.Ser235Ile		49673834	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000705	0.07819	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.08282	3.11;3.15	4.89	1.41	0.22369	.	0.430694	0.19962	N	0.102197	T	0.05731	0.0150	N	0.17278	0.47	0.09310	N	0.999999	P;P;P	0.42203	0.773;0.664;0.664	B;B;B	0.43701	0.428;0.246;0.246	T	0.32877	-0.9890	10	0.37606	T	0.19	-8.2258	6.3737	0.21495	0.0:0.6386:0.1876:0.1738	.	210;234;235	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	235;210	ENSP00000221327:S235I;ENSP00000375818:S210I	ENSP00000221327:S235I	S	-	2	0	ZNF180	49673834	0.000000	0.05858	0.239000	0.24122	0.579000	0.36224	-0.299000	0.08254	0.547000	0.28938	0.655000	0.94253	AGT		0.338	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
CEACAM20	125931	broad.mit.edu	37	19	45029247	45029247	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:45029247G>T	ENST00000454753.1	-	0	361							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGGGCTGCAGCTGGAGGACT	0.577																																					p.A28D												.	.	0			c.C83A	19						.						106.0	113.0	111.0					19																	45029247		2098	4216	6314	49721087			125931	exon2			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029247G>T			49721087	NM_001102597		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																					0.577	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
CKM	1158	broad.mit.edu	37	19	45810765	45810765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:45810765C>A	ENST00000221476.3	-	7	1095	c.921G>T	c.(919-921)aaG>aaT	p.K307N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	307	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.K307N(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCTCCTCGAACTTGGGGTGCT	0.647																																					p.K307N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G921T	19						.						74.0	67.0	70.0					19																	45810765		2203	4300	6503	50502605	SO:0001583	missense	1158	exon7			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.921G>T	19.37:g.45810765C>A	ENSP00000221476:p.Lys307Asn		50502605	NM_001824	Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692932	0.68271	.	.	ENSG00000104879	ENST00000221476	T	0.11821	2.74	5.3	1.98	0.26296	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	M	0.73319	2.225	0.53688	D	0.999975	D	0.62365	0.991	D	0.66602	0.945	T	0.01460	-1.1349	10	0.59425	D	0.04	-34.2682	6.7082	0.23262	0.0:0.6375:0.0:0.3625	.	307	P06732	KCRM_HUMAN	N	307	ENSP00000221476:K307N	ENSP00000221476:K307N	K	-	3	2	CKM	50502605	0.535000	0.26370	1.000000	0.80357	0.998000	0.95712	-0.120000	0.10660	0.619000	0.30197	0.561000	0.74099	AAG		0.647	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1		
PPM1N	147699	broad.mit.edu	37	19	46002455	46002455	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46002455C>T	ENST00000451287.2	+	1	725	c.725C>T	c.(724-726)cCg>cTg	p.P242L	RTN2_ENST00000245923.4_5'Flank|RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000401593.1_5'Flank|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000324688.4_Missense_Mutation_p.P164L|PPM1N_ENST00000396736.2_5'Flank|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396735.2_5'Flank|RTN2_ENST00000590526.1_5'Flank	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	242	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)	p.P242L(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						AAGGAGGCTCCGGGGAGGCCC	0.697																																					p.P242L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C725T	19						.						18.0	21.0	20.0					19																	46002455		1898	4083	5981	50694295	SO:0001583	missense	147699	exon1			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.725C>T	19.37:g.46002455C>T	ENSP00000397050:p.Pro242Leu		50694295	NM_001080401	Q6P662	Missense_Mutation	SNP	ENST00000451287.2	37	CCDS46115.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538576	0.27475	.	.	ENSG00000213889	ENST00000451287;ENST00000396734;ENST00000324688	T;T	0.17213	2.29;2.29	3.5	1.36	0.22044	Protein phosphatase 2C-like (5);	0.283230	0.28700	U	0.014423	T	0.09423	0.0232	L	0.39397	1.21	0.21950	N	0.999454	P	0.39520	0.676	B	0.30855	0.121	T	0.23547	-1.0185	10	0.29301	T	0.29	.	5.4895	0.16769	0.0:0.6385:0.0:0.3615	.	242	Q8N819	PPM1N_HUMAN	L	242;242;164	ENSP00000397050:P242L;ENSP00000321761:P164L	ENSP00000321761:P164L	P	+	2	0	PPM1N	50694295	0.000000	0.05858	0.450000	0.26969	0.912000	0.54170	1.223000	0.32527	0.487000	0.27698	0.313000	0.20887	CCG		0.697	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326517.2	NM_001080401	
DMWD	1762	broad.mit.edu	37	19	46289815	46289815	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46289815G>A	ENST00000270223.6	-	3	984	c.939C>T	c.(937-939)ttC>ttT	p.F313F	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.F313F|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	313								p.F313F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCATGGAGTCGAAGTGGAAGA	0.667																																					p.F313F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	19						.						44.0	49.0	48.0					19																	46289815		2203	4300	6503	50981655	SO:0001819	synonymous_variant	1762	exon3			L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.939C>T	19.37:g.46289815G>A			50981655	NM_004943		Silent	SNP	ENST00000270223.6	37	CCDS33054.1																																																																																				0.667	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943	
NOVA2	4858	broad.mit.edu	37	19	46444012	46444012	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46444012G>A	ENST00000263257.5	-	4	782	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	196	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I196I(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		CCTTCTGCACGATGGCGCTCA	0.662																																					p.I196I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	19						.						63.0	34.0	44.0					19																	46444012		2203	4300	6503	51135852	SO:0001819	synonymous_variant	4858	exon4			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.588C>T	19.37:g.46444012G>A			51135852	NM_002516	O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	CCDS12679.1																																																																																				0.662	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516	
HIF3A	64344	broad.mit.edu	37	19	46838171	46838171	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46838171C>T	ENST00000377670.4	+	14	1871	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000300862.3_Silent_p.L612L|HIF3A_ENST00000244303.6_Silent_p.L545L|HIF3A_ENST00000420102.2_Silent_p.L563L|HIF3A_ENST00000339613.2_Silent_p.L558L|HIF3A_ENST00000600383.1_Silent_p.L545L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	614					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L612L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGTTTCCTTCTGACAGGAGG	0.567																																					p.L614L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1840T	19						.						65.0	64.0	64.0					19																	46838171		2203	4300	6503	51530011	SO:0001819	synonymous_variant	64344	exon14			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1840C>T	19.37:g.46838171C>T			51530011	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	CCDS12681.2																																																																																				0.567	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
PPP5C	5536	broad.mit.edu	37	19	46857194	46857194	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46857194C>A	ENST00000012443.4	+	2	414	c.311C>A	c.(310-312)gCc>gAc	p.A104D	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	104					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.A104D(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CGCCGGGCTGCCAGCAACATG	0.637																																					p.A104D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311A	19						.						31.0	24.0	27.0					19																	46857194		2202	4299	6501	51549034	SO:0001583	missense	5536	exon2				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.311C>A	19.37:g.46857194C>A	ENSP00000012443:p.Ala104Asp		51549034	NM_006247	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737134	0.69304	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	T	0.64618	-0.11	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.061993	0.64402	D	0.000004	T	0.65873	0.2733	M	0.82056	2.57	0.80722	D	1	P;B	0.39535	0.677;0.003	B;B	0.38020	0.263;0.012	T	0.70128	-0.4957	10	0.44086	T	0.13	-18.3798	16.6324	0.85037	0.0:1.0:0.0:0.0	.	104;104	B2R6R6;P53041	.;PPP5_HUMAN	D	104;91	ENSP00000012443:A104D	ENSP00000012443:A104D	A	+	2	0	PPP5C	51549034	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.092000	0.76930	2.597000	0.87782	0.563000	0.77884	GCC		0.637	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
PNMAL1	55228	broad.mit.edu	37	19	46971811	46971811	+	3'UTR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46971811C>T	ENST00000313683.10	-	0	1632				PNMAL1_ENST00000438932.2_Silent_p.G374G|PNMAL1_ENST00000602246.1_Silent_p.G80G	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1									p.G374G(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		atgggtggtcccccagatcaa	0.428																																					p.G374G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1122A	19						.						146.0	136.0	140.0					19																	46971811		2203	4300	6503	51663651	SO:0001624	3_prime_UTR_variant	55228	exon3			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.*7G>A	19.37:g.46971811C>T			51663651	NM_001103149	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	3'UTR	SNP	ENST00000313683.10	37	CCDS33059.1																																																																																				0.428	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
PNMAL2	57469	broad.mit.edu	37	19	46997934	46997934	+	Intron	SNP	C	C	T	rs35793066		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46997934C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_Silent_p.F15F|PNMAL2_ENST00000599531.1_Silent_p.S263S|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2									p.F15F(1)		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)		CTTCTTTCTTCGATTTGTCGG	0.592																																					p.S263S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G789A	19						.						73.0	63.0	66.0					19																	46997934		2203	4300	6503	51689774	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+54G>A	19.37:g.46997934C>T			51689774	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37																																																																																					0.592	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
PNMAL2	57469	broad.mit.edu	37	19	46998309	46998309	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:46998309C>A	ENST00000377655.2	-	1	413	c.414G>T	c.(412-414)caG>caT	p.Q138H	AC011484.1_ENST00000377652.3_Silent_p.S140S|PNMAL2_ENST00000599531.1_Missense_Mutation_p.Q138H|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	138								p.Q138H(1)|p.S140S(1)		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)		CCCCAGAATCCTGGGCCTGCG	0.687																																					p.Q138H												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G414T	19						.						46.0	48.0	47.0					19																	46998309		2203	4300	6503	51690149	SO:0001583	missense	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.414G>T	19.37:g.46998309C>A	ENSP00000366883:p.Gln138His		51690149	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37		.	.	.	.	.	.	.	.	.	.	C	15.71	2.915225	0.52546	.	.	ENSG00000204851	ENST00000377655	T	0.10477	2.87	2.81	0.667	0.17907	.	.	.	.	.	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.59889	0.865	T	0.24297	-1.0164	9	0.59425	D	0.04	-8.1282	4.8671	0.13613	0.0:0.7018:0.0:0.2982	.	138	Q9ULN7	PNML2_HUMAN	H	138	ENSP00000366883:Q138H	ENSP00000366883:Q138H	Q	-	3	2	PNMAL2	51690149	0.486000	0.25980	0.008000	0.14137	0.662000	0.39071	1.054000	0.30455	0.241000	0.21283	0.561000	0.74099	CAG		0.687	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
STRN4	29888	broad.mit.edu	37	19	47241448	47241448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47241448C>A	ENST00000263280.6	-	3	482	c.433G>T	c.(433-435)Gag>Tag	p.E145*	STRN4_ENST00000391910.3_Nonsense_Mutation_p.E145*|Y_RNA_ENST00000410682.1_RNA|STRN4_ENST00000539396.1_Nonsense_Mutation_p.E26*	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	145						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.E145*(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GCTTTCTTCTCCCCCTGGTTC	0.493																																					p.E145X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G433T	19						.						259.0	201.0	221.0					19																	47241448		2203	4300	6503	51933288	SO:0001587	stop_gained	29888	exon3			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.433G>T	19.37:g.47241448C>A	ENSP00000263280:p.Glu145*		51933288	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901109	0.97087	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	.	.	.	5.05	4.02	0.46733	.	0.062935	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-32.6235	12.2573	0.54631	0.0:0.9161:0.0:0.0839	.	.	.	.	X	145;145;26;26	.	ENSP00000263280:E145X	E	-	1	0	STRN4	51933288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.918000	0.75788	1.347000	0.45714	0.563000	0.77884	GAG		0.493	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		
ARHGAP35	2909	broad.mit.edu	37	19	47422621	47422621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47422621C>T	ENST00000404338.3	+	1	689	c.689C>T	c.(688-690)gCg>gTg	p.A230V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	230					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.A230V(1)									GAGACCTCAGCGAGATCCAAT	0.438																																					p.A230V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689T	19						.						101.0	100.0	100.0					19																	47422621		1920	4134	6054	52114461	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.689C>T	19.37:g.47422621C>T	ENSP00000385720:p.Ala230Val		52114461	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126663	0.77549	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	D	0.90261	-2.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97473	1.0042	10	0.87932	D	0	-22.307	18.9906	0.92789	0.0:1.0:0.0:0.0	.	230	Q9NRY4-2	.	V	230	ENSP00000385720:A230V	ENSP00000324820:A230V	A	+	2	0	ARHGAP35	52114461	1.000000	0.71417	0.512000	0.27736	0.984000	0.73092	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GCG		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
ARHGAP35	2909	broad.mit.edu	37	19	47423130	47423130	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47423130G>A	ENST00000404338.3	+	1	1198	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	400	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.E400K(1)									CATGGAAAACGAACGGATTCC	0.463																																					p.E400K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1198A	19						.						126.0	118.0	120.0					19																	47423130		1914	4138	6052	52114970	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1198G>A	19.37:g.47423130G>A	ENSP00000385720:p.Glu400Lys		52114970	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187731	0.38609	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.07216	3.21	6.03	6.03	0.97812	.	0.099760	0.64402	D	0.000002	T	0.09468	0.0233	L	0.38531	1.155	0.53688	D	0.999979	B	0.28900	0.227	B	0.22601	0.04	T	0.18398	-1.0338	10	0.33940	T	0.23	-35.5583	19.3283	0.94273	0.0:0.0:1.0:0.0	.	400	Q9NRY4-2	.	K	400	ENSP00000385720:E400K	ENSP00000324820:E400K	E	+	1	0	ARHGAP35	52114970	1.000000	0.71417	0.937000	0.37676	0.989000	0.77384	4.835000	0.62781	2.861000	0.98227	0.655000	0.94253	GAA		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
ARHGAP35	2909	broad.mit.edu	37	19	47424922	47424922	+	Missense_Mutation	SNP	G	G	A	rs371941437		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47424922G>A	ENST00000404338.3	+	1	2990	c.2990G>A	c.(2989-2991)cGa>cAa	p.R997Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																					p.R997Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2990A	19						.						64.0	63.0	63.0					19																	47424922		1937	4149	6086	52116762	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2990G>A	19.37:g.47424922G>A	ENSP00000385720:p.Arg997Gln		52116762	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790576	0.31685	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08102	3.13	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.08626	0.0214	L	0.43152	1.355	0.39874	D	0.973542	B	0.23442	0.085	B	0.19148	0.024	T	0.18903	-1.0322	10	0.29301	T	0.29	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	Q	997	ENSP00000385720:R997Q	ENSP00000324820:R997Q	R	+	2	0	ARHGAP35	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
ARHGAP35	2909	broad.mit.edu	37	19	47502610	47502610	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47502610G>T	ENST00000404338.3	+	5	4086	c.4086G>T	c.(4084-4086)aaG>aaT	p.K1362N	ARHGAP35_ENST00000598548.1_3'UTR	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1362	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.K1362N(1)									AGGTATTAAAGAAATTTCCAA	0.463																																					p.K1362N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4086T	19						.						53.0	54.0	54.0					19																	47502610		1872	4116	5988	52194450	SO:0001583	missense	2909	exon5			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4086G>T	19.37:g.47502610G>T	ENSP00000385720:p.Lys1362Asn		52194450	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359245	0.61403	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.19669	2.13	5.09	5.09	0.68999	.	0.256729	0.34725	N	0.003737	T	0.13457	0.0326	N	0.25031	0.7	0.38613	D	0.950946	B	0.25809	0.135	B	0.24848	0.056	T	0.10019	-1.0648	10	0.40728	T	0.16	-23.2409	7.8985	0.29721	0.1771:0.0:0.8229:0.0	.	1362	Q9NRY4-2	.	N	1362	ENSP00000385720:K1362N	ENSP00000324820:K1362N	K	+	3	2	ARHGAP35	52194450	1.000000	0.71417	0.660000	0.29694	0.992000	0.81027	1.249000	0.32839	2.389000	0.81357	0.491000	0.48974	AAG		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
CCDC9	26093	broad.mit.edu	37	19	47774684	47774684	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47774684G>T	ENST00000221922.6	+	12	1567	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	449							poly(A) RNA binding (GO:0044822)	p.D449Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		ACCAGCCCAAGACCACCAAGC	0.622																																					p.D449Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1345T	19						.						105.0	102.0	103.0					19																	47774684		2203	4300	6503	52466524	SO:0001583	missense	26093	exon12			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1345G>T	19.37:g.47774684G>T	ENSP00000221922:p.Asp449Tyr		52466524	NM_015603		Missense_Mutation	SNP	ENST00000221922.6	37	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.950784	0.53186	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.26223	1.75	4.31	4.31	0.51392	.	2.218800	0.02014	N	0.047234	T	0.40423	0.1116	L	0.54323	1.7	0.19775	N	0.999958	P	0.50528	0.936	P	0.48141	0.568	T	0.45920	-0.9228	10	0.66056	D	0.02	-13.8753	13.787	0.63117	0.0:0.0:1.0:0.0	.	449	Q9Y3X0	CCDC9_HUMAN	Y	449;431	ENSP00000221922:D449Y	ENSP00000221922:D449Y	D	+	1	0	CCDC9	52466524	0.233000	0.23772	0.032000	0.17829	0.151000	0.21798	1.987000	0.40687	2.213000	0.71641	0.305000	0.20034	GAC		0.622	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603	
C5AR1	728	broad.mit.edu	37	19	47823317	47823317	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47823317T>C	ENST00000355085.3	+	2	305	c.283T>C	c.(283-285)Tcc>Ccc	p.S95P		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	95					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.S95P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTTGTTCACGTCCATTGTACA	0.612																																					p.R94R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T282C	19						.						112.0	95.0	101.0					19																	47823317		2203	4300	6503	52515157	SO:0001583	missense	728	exon2				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.283T>C	19.37:g.47823317T>C	ENSP00000347197:p.Ser95Pro		52515157	NM_001736		Missense_Mutation	SNP	ENST00000355085.3	37	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	T	0.147	-1.095754	0.01858	.	.	ENSG00000197405	ENST00000355085	T	0.73047	-0.71	4.67	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.140754	0.48767	U	0.000179	T	0.58119	0.2100	M	0.62088	1.915	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.46176	-0.9210	10	0.31617	T	0.26	.	0.7132	0.00928	0.456:0.1283:0.1707:0.245	.	95	P21730	C5AR_HUMAN	P	95	ENSP00000347197:S95P	ENSP00000347197:S95P	S	+	1	0	C5AR1	52515157	0.000000	0.05858	0.005000	0.12908	0.057000	0.15508	-1.463000	0.02361	0.419000	0.25927	0.391000	0.25812	TCC		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736	
C5AR2	27202	broad.mit.edu	37	19	47845011	47845011	+	Missense_Mutation	SNP	G	G	A	rs529217199		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47845011G>A	ENST00000595464.1	+	2	1173	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	C5AR2_ENST00000257267.2_Missense_Mutation_p.E319K|C5AR2_ENST00000600626.1_Missense_Mutation_p.E319K	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	319					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)	p.E319K(2)									GGGCCAGGACGAAAGTGTGGA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18010	0.0		0.0	False		,,,				2504	0.0				p.E319K												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G955A	19						.						54.0	43.0	46.0					19																	47845011		2203	4300	6503	52536851	SO:0001583	missense	27202	exon2			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.955G>A	19.37:g.47845011G>A	ENSP00000472620:p.Glu319Lys		52536851	NM_018485	B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	7.807	0.714959	0.15306	.	.	ENSG00000134830	ENST00000257267	T	0.49720	0.77	3.56	2.47	0.30058	.	0.768615	0.12267	U	0.484191	T	0.28797	0.0714	L	0.32530	0.975	0.09310	N	1	P	0.50066	0.931	B	0.34489	0.184	T	0.06127	-1.0844	10	0.24483	T	0.36	.	8.703	0.34338	0.0:0.2346:0.7654:0.0	.	319	Q9P296	C5ARL_HUMAN	K	319	ENSP00000257267:E319K	ENSP00000257267:E319K	E	+	1	0	GPR77	52536851	0.003000	0.15002	0.002000	0.10522	0.054000	0.15201	0.271000	0.18626	0.790000	0.33803	0.313000	0.20887	GAA		0.557	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
NAPA	8775	broad.mit.edu	37	19	47996703	47996703	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000593785.1_5'Flank|NAPA_ENST00000595227.1_Silent_p.I91I	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	130					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.I130I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTGTCTCATAGATCTCAGCAA	0.607																																					p.I130I	Ovarian(185;1135 2042 27703 31345 42493)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C390A	19						.						252.0	217.0	229.0					19																	47996703		2203	4300	6503	52688515	SO:0001819	synonymous_variant	8775	exon5			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.390C>A	19.37:g.47996703G>T			52688515	NM_003827	A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	CCDS12702.1																																																																																				0.607	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827	
EHD2	30846	broad.mit.edu	37	19	48220014	48220014	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48220014G>A	ENST00000263277.3	+	2	396	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	49					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A49T(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCACTCGCCGGCCCTGGAGGA	0.662																																					p.A49T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	19						.						37.0	30.0	32.0					19																	48220014		2203	4300	6503	52911826	SO:0001583	missense	30846	exon2			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.145G>A	19.37:g.48220014G>A	ENSP00000263277:p.Ala49Thr		52911826	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	6.889	0.533563	0.13188	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	T	0.17854	2.25	3.75	2.7	0.31948	.	0.123446	0.53938	D	0.000053	T	0.14227	0.0344	L	0.49640	1.575	0.80722	D	1	B	0.20780	0.048	B	0.14578	0.011	T	0.07065	-1.0792	10	0.21014	T	0.42	-36.9344	9.5824	0.39495	0.1082:0.0:0.8918:0.0	.	49	Q9NZN4	EHD2_HUMAN	T	49	ENSP00000263277:A49T	ENSP00000263277:A49T	A	+	1	0	EHD2	52911826	1.000000	0.71417	0.904000	0.35570	0.189000	0.23516	4.053000	0.57427	0.942000	0.37525	-0.567000	0.04161	GCC		0.662	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
EHD2	30846	broad.mit.edu	37	19	48229161	48229161	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48229161G>A	ENST00000263277.3	+	4	846	c.595G>A	c.(595-597)Gag>Aag	p.E199K	EHD2_ENST00000538399.1_Missense_Mutation_p.E63K|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	199	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E199K(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GATCTCGGACGAGTTCTCAGA	0.632																																					p.E199K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595A	19						.						49.0	40.0	43.0					19																	48229161		2203	4300	6503	52920973	SO:0001583	missense	30846	exon4			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.595G>A	19.37:g.48229161G>A	ENSP00000263277:p.Glu199Lys		52920973	NM_014601	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522807	0.85600	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.96041	-3.89;-3.89	3.66	3.66	0.41972	Dynamin, GTPase domain (1);	0.134193	0.48286	D	0.000187	D	0.97711	0.9249	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98400	1.0567	10	0.87932	D	0	-20.4498	13.284	0.60232	0.0:0.0:1.0:0.0	.	199	Q9NZN4	EHD2_HUMAN	K	199;199;189;63	ENSP00000263277:E199K;ENSP00000439036:E63K	ENSP00000263277:E199K	E	+	1	0	EHD2	52920973	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.668000	0.98619	1.793000	0.52555	0.456000	0.33151	GAG		0.632	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1		
GLTSCR2	29997	broad.mit.edu	37	19	48253450	48253450	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48253450G>T	ENST00000246802.5	+	3	343	c.305G>T	c.(304-306)aGa>aTa	p.R102I	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	102						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R102I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAAAGAAGAGAACCAAAGTC	0.522																																					p.R102I	Colon(58;613 1041 9473 10089 15241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305T	19						.						72.0	64.0	67.0					19																	48253450		2203	4300	6503	52945262	SO:0001583	missense	29997	exon3			AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.305G>T	19.37:g.48253450G>T	ENSP00000246802:p.Arg102Ile		52945262	NM_015710	Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290569	0.23564	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.35048	1.33	3.06	0.913	0.19354	.	0.544526	0.18342	N	0.144159	T	0.33440	0.0863	L	0.55743	1.74	0.28385	N	0.919368	P;P;P	0.46142	0.873;0.873;0.873	P;P;B	0.45998	0.5;0.5;0.377	T	0.22243	-1.0222	10	0.72032	D	0.01	-14.0242	4.9179	0.13854	0.2911:0.0:0.7089:0.0	.	102;102;100	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	I	102	ENSP00000246802:R102I	ENSP00000246802:R102I	R	+	2	0	GLTSCR2	52945262	0.067000	0.21026	0.011000	0.14972	0.446000	0.32137	0.025000	0.13577	0.323000	0.23307	0.462000	0.41574	AGA		0.522	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710	
CRX	1406	broad.mit.edu	37	19	48342775	48342775	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48342775G>T	ENST00000221996.7	+	4	657	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.G151C	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	151					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G151C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CGGCCCCTCAGGCTCCCCAAC	0.667																																					p.G151C	Pancreas(57;461 1196 22201 40716 47188)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451T	19						.						39.0	43.0	41.0					19																	48342775		2203	4298	6501	53034587	SO:0001583	missense	1406	exon4			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.451G>T	19.37:g.48342775G>T	ENSP00000221996:p.Gly151Cys		53034587	NM_000554	Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	9.420	1.082887	0.20309	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91011	-2.77;-2.77	3.93	3.93	0.45458	.	0.566940	0.17433	N	0.174394	D	0.83533	0.5275	N	0.19112	0.55	0.09310	N	1	B	0.28512	0.214	B	0.27170	0.077	T	0.76753	-0.2843	10	0.51188	T	0.08	-2.7547	13.5154	0.61537	0.0:0.0:1.0:0.0	.	151	O43186	CRX_HUMAN	C	151	ENSP00000221996:G151C;ENSP00000445565:G151C	ENSP00000221996:G151C	G	+	1	0	CRX	53034587	0.653000	0.27358	0.525000	0.27900	0.876000	0.50452	3.992000	0.56980	2.024000	0.59613	0.467000	0.42956	GGC		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554	
CRX	1406	broad.mit.edu	37	19	48343094	48343094	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48343094G>T	ENST00000221996.7	+	4	976	c.770G>T	c.(769-771)aGc>aTc	p.S257I	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.S257I	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	257					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S257I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCAGGCCAGAGCTATGGCGCC	0.632																																					p.S257I	Pancreas(57;461 1196 22201 40716 47188)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G770T	19						.						85.0	94.0	91.0					19																	48343094		2203	4299	6502	53034906	SO:0001583	missense	1406	exon4			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.770G>T	19.37:g.48343094G>T	ENSP00000221996:p.Ser257Ile		53034906	NM_000554	Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038901	0.55003	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90563	-2.69;-2.69	4.01	4.01	0.46588	.	0.057855	0.64402	D	0.000002	D	0.82545	0.5060	L	0.29908	0.895	0.33372	D	0.573741	P	0.50943	0.94	B	0.35413	0.202	D	0.88438	0.3040	10	0.59425	D	0.04	-10.6536	13.6636	0.62382	0.0:0.0:1.0:0.0	.	257	O43186	CRX_HUMAN	I	257	ENSP00000221996:S257I;ENSP00000445565:S257I	ENSP00000221996:S257I	S	+	2	0	CRX	53034906	1.000000	0.71417	0.956000	0.39512	0.945000	0.59286	8.852000	0.92215	2.059000	0.61396	0.467000	0.42956	AGC		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554	
SULT2A1	6822	broad.mit.edu	37	19	48385390	48385390	+	Missense_Mutation	SNP	C	C	A	rs371548779		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48385390C>A	ENST00000222002.3	-	3	562	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	141					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.K141N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	ACTTTGGTTTCTTAATAAACT	0.373																																					p.K141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G423T	19						.						83.0	83.0	83.0					19																	48385390		2203	4300	6503	53077202	SO:0001583	missense	6822	exon3			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.423G>T	19.37:g.48385390C>A	ENSP00000222002:p.Lys141Asn		53077202	NM_003167		Missense_Mutation	SNP	ENST00000222002.3	37	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173041	0.38413	.	.	ENSG00000105398	ENST00000222002	T	0.01613	4.73	4.15	0.739	0.18324	Sulfotransferase domain (1);	0.421521	0.21181	N	0.078813	T	0.05868	0.0153	M	0.78285	2.405	0.09310	N	1	D	0.60160	0.987	D	0.63283	0.913	T	0.22034	-1.0228	10	0.49607	T	0.09	.	3.3583	0.07177	0.204:0.5756:0.0:0.2204	.	141	Q06520	ST2A1_HUMAN	N	141	ENSP00000222002:K141N	ENSP00000222002:K141N	K	-	3	2	SULT2A1	53077202	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.167000	0.16602	0.144000	0.18951	0.655000	0.94253	AAG		0.373	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167	
PLA2G4C	8605	broad.mit.edu	37	19	48609796	48609796	+	5'UTR	SNP	C	C	T	rs367872447		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48609796C>T	ENST00000599921.1	-	0	348				PLA2G4C_ENST00000413144.2_5'Flank|PLA2G4C_ENST00000354276.3_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A18T			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)						arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGGTGCACTGCGGTCAGAAAA	0.517																																					p.A18T												.	.	0			c.G52A	19						.						159.0	131.0	140.0					19																	48609796		2203	4300	6503	53301608	SO:0001623	5_prime_UTR_variant	8605	exon2			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.-10G>A	19.37:g.48609796C>T			53301608	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	5'UTR	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.517	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
LIG1	3978	broad.mit.edu	37	19	48660284	48660284	+	Silent	SNP	C	C	T	rs111516401	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48660284C>T	ENST00000263274.7	-	5	776	c.357G>A	c.(355-357)ccG>ccA	p.P119P	LIG1_ENST00000536218.1_Silent_p.P119P|LIG1_ENST00000427526.2_Silent_p.P89P|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	119					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.P119P(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGCGACGCTTCGGAATCCCTG	0.512								Nucleotide excision repair (NER)					C|||	3	0.000599042	0.0023	0.0	5008	,	,		13582	0.0		0.0	False		,,,				2504	0.0				p.P119P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357A	19						.	C		4,4402	6.2+/-15.9	0,4,2199	89.0	90.0	89.0		357	-3.6	1.0	19	dbSNP_132	89	0,8600		0,0,4300	no	coding-synonymous	LIG1	NM_000234.1		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		119/920	48660284	4,13002	2203	4300	6503	53352096	SO:0001819	synonymous_variant	3978	exon5				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.357G>A	19.37:g.48660284C>T			53352096	NM_000234	B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	CCDS12711.1																																																																																				0.512	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
CARD8	22900	broad.mit.edu	37	19	48734067	48734067	+	Missense_Mutation	SNP	C	C	T	rs542641676	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48734067C>T	ENST00000359009.4	-	5	736	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	CARD8_ENST00000520153.1_Missense_Mutation_p.E197K|CARD8_ENST00000521613.1_Missense_Mutation_p.E197K|CARD8_ENST00000519940.1_Missense_Mutation_p.E247K|CARD8_ENST00000447740.2_Missense_Mutation_p.E197K|CARD8_ENST00000391898.3_Missense_Mutation_p.E247K|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Missense_Mutation_p.E247K|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Missense_Mutation_p.E247K			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.E142K(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AGGTGGATTTCGGCGACAGCC	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		15438	0.001		0.0	False		,,,				2504	0.001				p.E247K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	19						.						39.0	40.0	40.0					19																	48734067		2203	4300	6503	53425879	SO:0001583	missense	22900	exon9			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.424G>A	19.37:g.48734067C>T	ENSP00000351901:p.Glu142Lys		53425879	NM_001184902	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37		.	.	.	.	.	.	.	.	.	.	C	5.118	0.207445	0.09704	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	1.89	0.741	0.18336	.	.	.	.	.	T	0.10551	0.0258	L	0.44542	1.39	0.09310	N	1	P;B;B;B;P;B;P;B	0.37233	0.563;0.38;0.38;0.38;0.588;0.195;0.507;0.095	B;B;B;B;B;B;B;B	0.28011	0.085;0.058;0.058;0.058;0.061;0.019;0.051;0.05	T	0.21895	-1.0232	9	0.39692	T	0.17	.	3.8717	0.09039	0.0:0.7388:0.0:0.2612	.	166;247;247;180;247;197;142;142	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	K	197;247;142;247;197;247;197;247	ENSP00000391248:E197K;ENSP00000375767:E247K;ENSP00000351901:E142K;ENSP00000429839:E247K;ENSP00000428736:E197K;ENSP00000430747:E247K;ENSP00000427858:E197K;ENSP00000428883:E247K	ENSP00000351901:E142K	E	-	1	0	CARD8	53425879	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.239000	0.18023	0.284000	0.22305	0.655000	0.94253	GAA		0.632	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959	
ZNF114	163071	broad.mit.edu	37	19	48785734	48785734	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:48785734C>A	ENST00000595607.1	+	5	610	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	ZNF114_ENST00000600687.1_Missense_Mutation_p.S39Y|ZNF114_ENST00000597695.1_Missense_Mutation_p.S5Y|ZNF114_ENST00000315849.1_Missense_Mutation_p.S39Y			Q8NC26	ZN114_HUMAN	zinc finger protein 114	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S39Y(1)		endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CTGGAAAATTCTAGGAACTTG	0.532																																					p.S39Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116A	19						.						110.0	113.0	112.0					19																	48785734		2203	4300	6503	53477546	SO:0001583	missense	163071	exon4			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.116C>A	19.37:g.48785734C>A	ENSP00000469998:p.Ser39Tyr		53477546	NM_153608	A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.346069	0.01266	.	.	ENSG00000178150	ENST00000315849	T	0.01234	5.13	2.07	-4.14	0.03892	Krueppel-associated box (4);	.	.	.	.	T	0.00271	0.0008	N	0.00034	-2.56	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44375	-0.9332	9	0.02654	T	1	.	0.0678	0.00019	0.2793:0.18:0.197:0.3436	.	39	Q8NC26	ZN114_HUMAN	Y	39	ENSP00000318898:S39Y	ENSP00000318898:S39Y	S	+	2	0	ZNF114	53477546	0.005000	0.15991	0.000000	0.03702	0.097000	0.18754	0.050000	0.14120	-1.141000	0.02873	0.205000	0.17691	TCT		0.532	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608	
IZUMO1	284359	broad.mit.edu	37	19	49247724	49247724	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49247724C>T	ENST00000332955.2	-	4	930	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	128					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R128Q(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTTTGGAATCGAGCAACATA	0.517																																					p.R128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	19						.						121.0	113.0	116.0					19																	49247724		2203	4300	6503	53939536	SO:0001583	missense	284359	exon4			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.383G>A	19.37:g.49247724C>T	ENSP00000327786:p.Arg128Gln		53939536	NM_182575	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	1.543	-0.541391	0.04053	.	.	ENSG00000182264	ENST00000332955	T	0.20332	2.08	5.21	-0.817	0.10836	.	1.186920	0.06191	N	0.681367	T	0.07324	0.0185	N	0.04355	-0.22	0.09310	N	1	B	0.18461	0.028	B	0.10450	0.005	T	0.30297	-0.9983	10	0.02654	T	1	-3.767	4.5294	0.11997	0.145:0.35:0.0:0.505	.	128	Q8IYV9	IZUM1_HUMAN	Q	128	ENSP00000327786:R128Q	ENSP00000327786:R128Q	R	-	2	0	IZUMO1	53939536	0.003000	0.15002	0.000000	0.03702	0.122000	0.20287	-0.201000	0.09464	-0.489000	0.06716	-0.367000	0.07326	CGA		0.517	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575	
FUT1	2523	broad.mit.edu	37	19	49253689	49253689	+	Missense_Mutation	SNP	C	C	T	rs557041594		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49253689C>T	ENST00000310160.3	-	4	1824	c.850G>A	c.(850-852)Gat>Aat	p.D284N	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	284					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.D284N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		TCCTGTCCATCGCCAGCAAAC	0.572																																					p.D284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	19						.						187.0	135.0	153.0					19																	49253689		2203	4300	6503	53945501	SO:0001583	missense	2523	exon4				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.850G>A	19.37:g.49253689C>T	ENSP00000312021:p.Asp284Asn		53945501	NM_000148	O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	0.389	-0.924284	0.02377	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96587	-4.06	4.56	-3.63	0.04529	.	0.755603	0.11982	N	0.510713	D	0.88529	0.6461	N	0.11892	0.195	0.09310	N	1	B	0.23540	0.087	B	0.21360	0.034	T	0.76572	-0.2910	10	0.12103	T	0.63	-10.5985	12.4069	0.55445	0.0:0.7105:0.0:0.2895	.	284	P19526	FUT1_HUMAN	N	284;274	ENSP00000312021:D284N	ENSP00000312021:D284N	D	-	1	0	FUT1	53945501	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-0.373000	0.07494	-0.612000	0.05701	-0.379000	0.06801	GAT		0.572	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148	
FUT1	2523	broad.mit.edu	37	19	49254151	49254151	+	Missense_Mutation	SNP	C	C	T	rs368762099		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49254151C>T	ENST00000310160.3	-	4	1362	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	130					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)	p.V130M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGGCCAGCACGGGCAGGGTG	0.662																																					p.V130M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	19						.	C	MET/VAL	0,4404		0,0,2202	54.0	63.0	60.0		388	2.2	1.0	19		60	1,8593	1.2+/-3.3	0,1,4296	no	missense	FUT1	NM_000148.3	21	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	130/366	49254151	1,12997	2202	4297	6499	53945963	SO:0001583	missense	2523	exon4				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.388G>A	19.37:g.49254151C>T	ENSP00000312021:p.Val130Met		53945963	NM_000148	O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436731	0.43224	0.0	1.16E-4	ENSG00000174951	ENST00000310160	D	0.97328	-4.34	4.37	2.17	0.27698	.	0.474683	0.17958	N	0.156295	D	0.98027	0.9350	M	0.86420	2.815	0.30071	N	0.810039	D	0.67145	0.996	D	0.65684	0.937	D	0.94939	0.8089	10	0.87932	D	0	-14.0076	9.1092	0.36716	0.0:0.8139:0.0:0.1861	.	130	P19526	FUT1_HUMAN	M	130	ENSP00000312021:V130M	ENSP00000312021:V130M	V	-	1	0	FUT1	53945963	0.874000	0.30092	0.967000	0.41034	0.163000	0.22366	1.541000	0.36126	0.584000	0.29591	0.563000	0.77884	GTG		0.662	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148	
ZNRF4	148066	broad.mit.edu	37	19	5455803	5455803	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5455803C>T	ENST00000222033.4	+	1	378	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	101						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R101W(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCAGTGGTACGGGCCGTGCT	0.692																																					p.R101W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	19						.						46.0	56.0	53.0					19																	5455803		2131	4226	6357	5406803	SO:0001583	missense	148066	exon1			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.301C>T	19.37:g.5455803C>T	ENSP00000222033:p.Arg101Trp		5406803	NM_181710	A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640579	0.29157	.	.	ENSG00000105428	ENST00000222033	T	0.04917	3.53	3.63	3.63	0.41609	.	1.017090	0.07895	U	0.971786	T	0.21921	0.0528	M	0.66939	2.045	0.09310	N	0.999999	D	0.89917	1.0	D	0.65874	0.939	T	0.09975	-1.0650	10	0.54805	T	0.06	.	10.79	0.46428	0.0:1.0:0.0:0.0	.	101	Q8WWF5	ZNRF4_HUMAN	W	101	ENSP00000222033:R101W	ENSP00000222033:R101W	R	+	1	2	ZNRF4	5406803	0.851000	0.29673	0.045000	0.18777	0.010000	0.07245	1.822000	0.39052	1.576000	0.49790	0.313000	0.20887	CGG		0.692	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710	
PLEKHA4	57664	broad.mit.edu	37	19	49364745	49364745	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49364745C>A	ENST00000263265.6	-	5	834	c.279G>T	c.(277-279)gaG>gaT	p.E93D	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.E93D|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.E93D(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTAGGACACTCTCCTCGCGGC	0.632																																					p.E93D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	19						.						38.0	46.0	43.0					19																	49364745		2203	4300	6503	54056557	SO:0001583	missense	57664	exon5			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.279G>T	19.37:g.49364745C>A	ENSP00000263265:p.Glu93Asp		54056557	NM_020904	Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.269148	0.80469	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.12774	2.65;2.65	4.56	2.43	0.29744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.24890	0.0604	L	0.48877	1.53	0.41927	D	0.990542	P;P	0.44627	0.839;0.819	P;P	0.61477	0.873;0.889	T	0.01105	-1.1450	10	0.87932	D	0	.	8.7412	0.34558	0.0:0.8129:0.0:0.187	.	93;93	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	D	93	ENSP00000263265:E93D;ENSP00000347683:E93D	ENSP00000263265:E93D	E	-	3	2	PLEKHA4	54056557	0.988000	0.35896	1.000000	0.80357	0.967000	0.64934	0.647000	0.24812	0.669000	0.31146	0.457000	0.33378	GAG		0.632	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		
PPP1R15A	23645	broad.mit.edu	37	19	49377853	49377853	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49377853G>A	ENST00000200453.5	+	2	1632	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	455	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.D455N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGATAAGGAAGATGATTCAGA	0.572																																					p.D455N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1363A	19						.						76.0	76.0	76.0					19																	49377853		2203	4300	6503	54069665	SO:0001583	missense	23645	exon2			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1363G>A	19.37:g.49377853G>A	ENSP00000200453:p.Asp455Asn		54069665	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397016	0.42512	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.07114	3.22	4.19	-0.967	0.10316	.	4.230020	0.01115	N	0.005679	T	0.07234	0.0183	L	0.40543	1.245	0.09310	N	1	B	0.18310	0.027	B	0.17722	0.019	T	0.31447	-0.9943	10	0.18710	T	0.47	6.3949	2.616	0.04903	0.0964:0.1594:0.417:0.3271	.	455	O75807	PR15A_HUMAN	N	455;295;413	ENSP00000200453:D455N	ENSP00000200453:D455N	D	+	1	0	PPP1R15A	54069665	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.225000	0.17757	-0.134000	0.11516	-0.302000	0.09304	GAT		0.572	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330	
TULP2	7288	broad.mit.edu	37	19	49391471	49391471	+	Silent	SNP	C	C	T	rs369432743		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49391471C>T	ENST00000221399.3	-	8	828	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	228					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.T228T(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CTGAGGAGTTCGTCCCTGTAG	0.562																																					p.T228T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G684A	19						.	C		0,4406		0,0,2203	91.0	65.0	73.0		684	-4.8	0.0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TULP2	NM_003323.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/521	49391471	1,13005	2203	4300	6503	54083283	SO:0001819	synonymous_variant	7288	exon8			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.684G>A	19.37:g.49391471C>T			54083283	NM_003323	Q8TC50	Silent	SNP	ENST00000221399.3	37	CCDS12739.1																																																																																				0.562	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323	
NUCB1	4924	broad.mit.edu	37	19	49404075	49404075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49404075G>T	ENST00000405315.4	+	2	356	c.22G>T	c.(22-24)Gga>Tga	p.G8*	NUCB1_ENST00000263273.5_Nonsense_Mutation_p.G8*|NUCB1_ENST00000485798.1_Intron|TULP2_ENST00000221399.3_5'Flank|NUCB1_ENST00000407032.1_Nonsense_Mutation_p.G8*	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	8						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.G8*(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGGCCCCGAGGAACCCTCCT	0.652																																					p.G8X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G22T	19						.						66.0	51.0	56.0					19																	49404075		2203	4300	6503	54095887	SO:0001587	stop_gained	4924	exon2			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.22G>T	19.37:g.49404075G>T	ENSP00000385923:p.Gly8*		54095887	NM_006184	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Nonsense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919953|2.919953	0.52653|0.52653	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000424608|ENST00000405315;ENST00000407032;ENST00000452087;ENST00000411700;ENST00000451312;ENST00000263273	.|.	.|.	.|.	4.08|4.08	-2.34|-2.34	0.06704|0.06704	.|.	.|2.229330	.|0.02019	.|N	.|0.047612	T|.	0.26159|.	0.0638|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18147|.	-1.0346|.	3|.	.|0.41790	.|T	.|0.15	.|.	4.3321|4.3321	0.11069|0.11069	0.2916:0.3096:0.3988:0.0|0.2916:0.3096:0.3988:0.0	.|.	.|.	.|.	.|.	D|X	7|8	.|.	.|ENSP00000263273:G8X	E|G	+|+	3|1	2|0	NUCB1|NUCB1	54095887|54095887	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.131000|0.131000	0.20780|0.20780	0.270000|0.270000	0.18607|0.18607	-0.246000|-0.246000	0.09611|0.09611	0.549000|0.549000	0.68633|0.68633	GAG|GGA		0.652	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
GYS1	2997	broad.mit.edu	37	19	49485577	49485577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49485577C>A	ENST00000323798.3	-	7	1193	c.997G>T	c.(997-999)Gag>Tag	p.E333*	GYS1_ENST00000263276.6_Nonsense_Mutation_p.E269*|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000541188.1_Nonsense_Mutation_p.E253*|GYS1_ENST00000540532.1_Missense_Mutation_p.M213I	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	333					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.E333*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TTGGAGAACTCATAGCGGCCG	0.552																																					p.E333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G997T	19						.						105.0	94.0	97.0					19																	49485577		2203	4300	6503	54177389	SO:0001587	stop_gained	2997	exon7				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.997G>T	19.37:g.49485577C>A	ENSP00000317904:p.Glu333*		54177389	NM_002103	Q9BTT9	Nonsense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.992054|7.992054	0.98599|0.98599	.|.	.|.	ENSG00000104812|ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188|ENST00000540532	.|T	.|0.21932	.|1.98	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.38214	.|0.1032	.|.	.|.	.|.	0.35151|0.35151	D|D	0.769791|0.769791	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43814	.|-0.9368	.|6	0.87932|0.45353	D|T	0|0.12	-30.539|-30.539	16.6519|16.6519	0.85218|0.85218	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	333;269;253|213	.|ENSP00000445197:M213I	ENSP00000263276:E269X|ENSP00000445197:M213I	E|M	-|-	1|3	0|0	GYS1|GYS1	54177389|54177389	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.988000|0.988000	0.76386|0.76386	7.403000|7.403000	0.79983|0.79983	2.613000|2.613000	0.88420|0.88420	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.552	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103	
SNRNP70	6625	broad.mit.edu	37	19	49589812	49589812	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49589812G>T	ENST00000598441.1	+	2	365	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SNRNP70_ENST00000221448.5_Missense_Mutation_p.E47D			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	47					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E47D(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ACATTCGAGAGTTTGAGGTGA	0.537																																					p.E47D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	19						.						182.0	178.0	179.0					19																	49589812		2203	4300	6503	54281624	SO:0001583	missense	6625	exon2				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.141G>T	19.37:g.49589812G>T	ENSP00000472998:p.Glu47Asp		54281624	NM_003089	B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574984	0.45902	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T	0.16073	2.37	4.9	0.0252	0.14144	.	0.193064	0.43579	D	0.000548	T	0.11879	0.0289	L	0.33485	1.01	0.80722	D	1	B;B	0.23937	0.058;0.094	B;B	0.32342	0.144;0.032	T	0.18967	-1.0320	10	0.16420	T	0.52	-10.6801	8.8285	0.35069	0.517:0.0:0.483:0.0	.	47;47	P08621;P08621-2	RU17_HUMAN;.	D	47	ENSP00000221448:E47D	ENSP00000221448:E47D	E	+	3	2	SNRNP70	54281624	0.981000	0.34729	0.997000	0.53966	0.995000	0.86356	0.139000	0.16036	-0.075000	0.12798	0.561000	0.74099	GAG		0.537	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089	
SNRNP70	6625	broad.mit.edu	37	19	49593555	49593555	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49593555G>A	ENST00000598441.1	+	3	379	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R52Q			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	52					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R52Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CAGGACCCTCGAGATGCCCCT	0.542																																					p.R52Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	19						.						83.0	71.0	75.0					19																	49593555		2203	4300	6503	54285367	SO:0001583	missense	6625	exon3				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.155G>A	19.37:g.49593555G>A	ENSP00000472998:p.Arg52Gln		54285367	NM_003089	B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392554	0.62066	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T	0.14516	2.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	L	0.44542	1.39	0.80722	D	1	B;B	0.32365	0.258;0.367	B;B	0.25614	0.062;0.028	T	0.09037	-1.0693	10	0.20046	T	0.44	-3.8141	18.5311	0.90992	0.0:0.0:1.0:0.0	.	52;52	P08621;P08621-2	RU17_HUMAN;.	Q	52	ENSP00000221448:R52Q	ENSP00000221448:R52Q	R	+	2	0	SNRNP70	54285367	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.929000	0.75852	2.756000	0.94617	0.561000	0.74099	CGA		0.542	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089	
SLC6A16	28968	broad.mit.edu	37	19	49796494	49796494	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49796494G>T	ENST00000335875.4	-	10	2005	c.1764C>A	c.(1762-1764)gcC>gcA	p.A588A	SLC6A16_ENST00000454748.3_Silent_p.A588A	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	588					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A588A(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGGCCCCATAGGCCCAGGATA	0.517																																					p.A588A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1764A	19						.						65.0	66.0	65.0					19																	49796494		1934	4144	6078	54488306	SO:0001819	synonymous_variant	28968	exon10			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1764C>A	19.37:g.49796494G>T			54488306	NM_014037	Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	CCDS42590.1																																																																																				0.517	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
SLC6A16	28968	broad.mit.edu	37	19	49812193	49812193	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49812193G>T	ENST00000335875.4	-	7	1410	c.1169C>A	c.(1168-1170)tCt>tAt	p.S390Y	SLC6A16_ENST00000454748.3_Missense_Mutation_p.S390Y|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	390					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S390Y(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGTTGAAAGATGTGAAAAC	0.522																																					p.S390Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169A	19						.						105.0	101.0	103.0					19																	49812193		2025	4178	6203	54504005	SO:0001583	missense	28968	exon7			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1169C>A	19.37:g.49812193G>T	ENSP00000338627:p.Ser390Tyr		54504005	NM_014037	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282602	0.40394	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.73897	-0.79;-0.79	4.27	-1.53	0.08611	.	0.782162	0.11924	N	0.516412	T	0.75064	0.3799	L	0.39898	1.24	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.62089	0.898;0.854	T	0.65664	-0.6113	10	0.72032	D	0.01	.	8.3775	0.32451	0.5621:0.0:0.4379:0.0	.	390;390	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	Y	390	ENSP00000338627:S390Y;ENSP00000404022:S390Y	ENSP00000338627:S390Y	S	-	2	0	SLC6A16	54504005	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.766000	0.26560	-0.130000	0.11599	-0.291000	0.09656	TCT		0.522	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	
TEAD2	8463	broad.mit.edu	37	19	49858608	49858608	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49858608C>T	ENST00000311227.2	-	5	519	c.429G>A	c.(427-429)gcG>gcA	p.A143A	TEAD2_ENST00000539846.1_Silent_p.A12A|TEAD2_ENST00000601519.1_Silent_p.A143A|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Silent_p.A147A|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Silent_p.A143A|TEAD2_ENST00000598810.1_Silent_p.A147A	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	143					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P144fs*15(1)|p.A143A(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCAGAGAAGGCGCGGAGATGA	0.607																																					p.A143A												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G429A	19						.						116.0	97.0	103.0					19																	49858608		2203	4300	6503	54550420	SO:0001819	synonymous_variant	8463	exon5			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.429G>A	19.37:g.49858608C>T			54550420	NM_003598	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	CCDS12761.1																																																																																				0.607	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
DKKL1	27120	broad.mit.edu	37	19	49868900	49868900	+	Silent	SNP	C	C	T	rs34625472	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49868900C>T	ENST00000221498.2	+	3	723	c.318C>T	c.(316-318)atC>atT	p.I106I	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	106					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)	p.I106I(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACCTCCAGATCGACAAGGTGC	0.617																																					p.I106I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	19						.						87.0	78.0	81.0					19																	49868900		2203	4300	6503	54560712	SO:0001819	synonymous_variant	27120	exon3			AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.318C>T	19.37:g.49868900C>T			54560712	NM_001197301		Silent	SNP	ENST00000221498.2	37	CCDS12762.1																																																																																				0.617	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419	
PIH1D1	55011	broad.mit.edu	37	19	49951296	49951296	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49951296C>T	ENST00000262265.5	-	4	596	c.361G>A	c.(361-363)Gac>Aac	p.D121N	PIH1D1_ENST00000596049.1_Missense_Mutation_p.D121N|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	121					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)		p.D121N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		ACAGCTACGTCGTAGGCGGTA	0.657																																					p.D121N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361A	19						.						53.0	46.0	49.0					19																	49951296		2203	4300	6503	54643108	SO:0001583	missense	55011	exon4			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.361G>A	19.37:g.49951296C>T	ENSP00000262265:p.Asp121Asn		54643108	NM_017916	B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452992	0.84209	.	.	ENSG00000104872	ENST00000262265	T	0.54479	0.57	4.68	4.68	0.58851	.	0.052908	0.64402	D	0.000001	T	0.73900	0.3646	M	0.87328	2.875	0.50813	D	0.999899	D	0.89917	1.0	D	0.70935	0.971	T	0.78745	-0.2084	10	0.72032	D	0.01	-32.0351	12.9694	0.58503	0.0:1.0:0.0:0.0	.	121	Q9NWS0	PIHD1_HUMAN	N	121	ENSP00000262265:D121N	ENSP00000262265:D121N	D	-	1	0	PIH1D1	54643108	1.000000	0.71417	0.991000	0.47740	0.837000	0.47467	4.411000	0.59781	2.423000	0.82170	0.655000	0.94253	GAC		0.657	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916	
TSKS	60385	broad.mit.edu	37	19	50245144	50245144	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50245144G>T	ENST00000246801.3	-	9	1577	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	TSKS_ENST00000358830.3_Missense_Mutation_p.L299M	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	499					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.L499M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCTGGTACCAGAATCTTCTTG	0.582																																					p.L499M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495A	19						.						143.0	125.0	131.0					19																	50245144		2203	4300	6503	54936956	SO:0001583	missense	60385	exon9			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1495C>A	19.37:g.50245144G>T	ENSP00000246801:p.Leu499Met		54936956	NM_021733	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921961	0.52653	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.38077	1.16;1.16	4.43	4.43	0.53597	.	0.000000	0.41823	D	0.000810	T	0.45377	0.1339	L	0.29908	0.895	0.31664	N	0.645226	D	0.76494	0.999	D	0.85130	0.997	T	0.45527	-0.9255	10	0.35671	T	0.21	-17.2533	12.72	0.57137	0.0:0.0:1.0:0.0	.	499	Q9UJT2	TSKS_HUMAN	M	499;299	ENSP00000246801:L499M;ENSP00000351691:L299M	ENSP00000246801:L499M	L	-	1	2	TSKS	54936956	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.370000	0.59517	2.446000	0.82766	0.462000	0.41574	CTG		0.582	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
TSKS	60385	broad.mit.edu	37	19	50247577	50247577	+	Silent	SNP	G	G	A	rs149069102		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50247577G>A	ENST00000246801.3	-	8	1354	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	TSKS_ENST00000358830.3_Silent_p.F224F	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	424					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.F424fs*11(2)|p.F424F(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ATTGCCGCCCGAACTCCTCCA	0.602																																					p.F424F												.	.	4	Deletion - Frameshift(2)|Substitution - coding silent(2)	large_intestine(2)|breast(2)	c.C1272T	19						.	G		0,4406		0,0,2203	78.0	70.0	73.0		1272	-1.3	1.0	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSKS	NM_021733.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		424/593	50247577	1,13005	2203	4300	6503	54939389	SO:0001819	synonymous_variant	60385	exon8			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1272C>T	19.37:g.50247577G>A			54939389	NM_021733	Q8WXJ0	Silent	SNP	ENST00000246801.3	37	CCDS12780.1																																																																																				0.602	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
IL4I1	259307	broad.mit.edu	37	19	50394668	50394668	+	Silent	SNP	C	C	T	rs369542657		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50394668C>T	ENST00000391826.2	-	6	772	c.630G>A	c.(628-630)acG>acA	p.T210T	IL4I1_ENST00000595948.1_Silent_p.T232T|IL4I1_ENST00000341114.3_Silent_p.T232T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	210						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.T232T(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TTACCAAGAGCGTGTGCCTTT	0.562																																					p.T210T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G630A	19						.						234.0	180.0	198.0					19																	50394668		2203	4300	6503	55086480	SO:0001819	synonymous_variant	259307	exon6			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.630G>A	19.37:g.50394668C>T			55086480	NM_152899	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	CCDS12787.1																																																																																				0.562	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1		
IL4I1	259307	broad.mit.edu	37	19	50399151	50399151	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50399151T>C	ENST00000391826.2	-	3	315	c.173A>G	c.(172-174)aAg>aGg	p.K58R	IL4I1_ENST00000595948.1_Missense_Mutation_p.K80R|IL4I1_ENST00000341114.3_Missense_Mutation_p.K80R	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	58						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.K80R(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCTCTGGGGCTTCAGGGTCCG	0.607																																					p.K58R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173G	19						.						108.0	113.0	111.0					19																	50399151		2203	4300	6503	55090963	SO:0001583	missense	259307	exon3			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.173A>G	19.37:g.50399151T>C	ENSP00000375702:p.Lys58Arg		55090963	NM_152899	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	T	6.645	0.487441	0.12641	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	T;T	0.34859	1.34;1.36	5.18	1.45	0.22620	.	0.941599	0.08972	N	0.867035	T	0.21103	0.0508	L	0.32530	0.975	0.09310	N	0.999998	B;B;B	0.16396	0.017;0.002;0.002	B;B;B	0.12156	0.007;0.003;0.003	T	0.30563	-0.9974	10	0.18276	T	0.48	-17.2856	0.457	0.00510	0.2173:0.1374:0.2247:0.4206	.	80;80;58	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	R	80;58	ENSP00000342557:K80R;ENSP00000375702:K58R	ENSP00000342557:K80R	K	-	2	0	IL4I1	55090963	0.001000	0.12720	0.334000	0.25495	0.291000	0.27294	-0.189000	0.09629	0.263000	0.21812	0.443000	0.29094	AAG		0.607	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1		
NUP62	23636	broad.mit.edu	37	19	50411700	50411700	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50411700G>A	ENST00000596217.1	-	2	3252	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.I455I|NUP62_ENST00000413454.1_Silent_p.I455I|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_Silent_p.I455I|NUP62_ENST00000597723.1_Silent_p.I379I|NUP62_ENST00000352066.3_Silent_p.I455I|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	455					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.I455I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCAGGTGCTCGATGATGTCCT	0.587																																					p.I455I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1365T	19						.						181.0	164.0	170.0					19																	50411700		2203	4300	6503	55103512	SO:0001819	synonymous_variant	23636	exon2			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1365C>T	19.37:g.50411700G>A			55103512	NM_012346	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	CCDS12788.1																																																																																				0.587	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719	
SIGLEC11	114132	broad.mit.edu	37	19	50455574	50455574	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50455574A>G	ENST00000447370.2	-	9	1819	c.1729T>C	c.(1729-1731)Tcc>Ccc	p.S577P	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S481P|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	577					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S565P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACAAGGCAGGAACAGAAAGCG	0.627																																					p.S481P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1441C	19						.						81.0	81.0	81.0					19																	50455574		2203	4300	6503	55147386	SO:0001583	missense	114132	exon8			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1729T>C	19.37:g.50455574A>G	ENSP00000412361:p.Ser577Pro		55147386	NM_001135163		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	5.651	0.304747	0.10678	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.53206	0.63	2.49	-4.97	0.03029	.	1.568680	0.03851	N	0.272311	T	0.26666	0.0652	L	0.34521	1.04	0.09310	N	1	B;P	0.38110	0.001;0.618	B;B	0.28553	0.001;0.091	T	0.09975	-1.0650	10	0.51188	T	0.08	.	0.2811	0.00245	0.2811:0.1567:0.3134:0.2488	.	481;577	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	P	577;481	ENSP00000412361:S577P	ENSP00000412361:S577P	S	-	1	0	SIGLEC11	55147386	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.432000	0.06956	-2.843000	0.00334	0.379000	0.24179	TCC		0.627	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SIGLEC11	114132	broad.mit.edu	37	19	50462304	50462304	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50462304G>A	ENST00000447370.2	-	6	1178	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.S363F	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S351F(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTTTGCTTGGGAAACCATCAC	0.582																																					p.S363F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1088T	19						.						76.0	78.0	77.0					19																	50462304		2203	4297	6500	55154116	SO:0001583	missense	114132	exon6			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1088C>T	19.37:g.50462304G>A	ENSP00000412361:p.Ser363Phe		55154116	NM_001135163		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664451|2.664451	0.47572|0.47572	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.56941	.|0.43	2.33|2.33	-0.443|-0.443	0.12249|0.12249	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.942626	.|0.08751	.|N	.|0.899091	T|T	0.45458|0.45458	0.1343|0.1343	N|N	0.17800|0.17800	0.525|0.525	0.09310|0.09310	N|N	1|1	.|D;D	.|0.67145	.|0.996;0.986	.|D;D	.|0.69654	.|0.965;0.923	T|T	0.42849|0.42849	-0.9427|-0.9427	5|10	.|0.09084	.|T	.|0.74	.|.	2.366|2.366	0.04319|0.04319	0.188:0.0:0.5184:0.2936|0.188:0.0:0.5184:0.2936	.|.	.|363;363	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	S|F	353|363	.|ENSP00000412361:S363F	.|ENSP00000412361:S363F	P|S	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55154116|55154116	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.863000|0.863000	0.49368|0.49368	-0.512000|-0.512000	0.06313|0.06313	0.268000|0.268000	0.21939|0.21939	-0.265000|-0.265000	0.10407|0.10407	CCC|TCC		0.582	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
SAFB2	9667	broad.mit.edu	37	19	5592762	5592762	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5592762C>T	ENST00000252542.4	-	16	2608	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	782	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D782N(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		ACTGACCTGTCGATGGCGTGG	0.602																																					p.D782N	Ovarian(127;888 1728 23957 44128 52668)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2344A	19						.						120.0	84.0	96.0					19																	5592762		2203	4300	6503	5543762	SO:0001583	missense	9667	exon16			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2344G>A	19.37:g.5592762C>T	ENSP00000252542:p.Asp782Asn		5543762	NM_014649	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225013	0.39300	.	.	ENSG00000130254	ENST00000252542	T	0.11712	2.75	4.76	3.73	0.42828	.	0.207562	0.33290	N	0.005069	T	0.13798	0.0334	M	0.71036	2.16	0.47778	D	0.999517	B	0.28470	0.213	B	0.17433	0.018	T	0.02661	-1.1127	10	0.48119	T	0.1	.	12.8632	0.57926	0.0:0.9206:0.0:0.0794	.	782	Q14151	SAFB2_HUMAN	N	782	ENSP00000252542:D782N	ENSP00000252542:D782N	D	-	1	0	SAFB2	5543762	0.999000	0.42202	0.277000	0.24703	0.198000	0.23893	4.419000	0.59835	0.999000	0.39023	0.561000	0.74099	GAC		0.602	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
ZNF473	25888	broad.mit.edu	37	19	50549648	50549648	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50549648G>A	ENST00000595661.1	+	6	2443	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	ZNF473_ENST00000445728.3_Missense_Mutation_p.E638K|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.E650K|ZNF473_ENST00000270617.3_Missense_Mutation_p.E650K|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	650					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E650K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TAAATGTAACGAATGCGGAAA	0.453																																					p.E650K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1948A	19						.						75.0	70.0	71.0					19																	50549648		2203	4300	6503	55241460	SO:0001583	missense	25888	exon5			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1948G>A	19.37:g.50549648G>A	ENSP00000472808:p.Glu650Lys		55241460	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772596	0.31411	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.61274	0.12;0.12;0.12	3.98	-3.78	0.04333	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.678532	0.12877	N	0.431794	T	0.44623	0.1302	L	0.53729	1.69	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.38735	-0.9647	10	0.52906	T	0.07	-0.002	5.9296	0.19132	0.462:0.1332:0.4049:0.0	.	650	Q8WTR7	ZN473_HUMAN	K	650;650;638	ENSP00000270617:E650K;ENSP00000375697:E650K;ENSP00000388961:E638K	ENSP00000270617:E650K	E	+	1	0	ZNF473	55241460	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.729000	0.04920	-0.595000	0.05828	-0.320000	0.08662	GAA		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
SAFB2	9667	broad.mit.edu	37	19	5604628	5604628	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5604628C>T	ENST00000252542.4	-	11	1789	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	509	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D509N(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGATGTCTGTCGACACTCGAT	0.433																																					p.D509N	Ovarian(127;888 1728 23957 44128 52668)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	19						.						94.0	86.0	89.0					19																	5604628		2203	4300	6503	5555628	SO:0001583	missense	9667	exon11			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1525G>A	19.37:g.5604628C>T	ENSP00000252542:p.Asp509Asn		5555628	NM_014649	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535625	0.85812	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.22336	1.96	5.05	5.05	0.67936	.	0.095453	0.45606	D	0.000351	T	0.23846	0.0577	L	0.43923	1.385	0.53688	D	0.999979	D	0.56746	0.977	B	0.43301	0.415	T	0.02263	-1.1186	10	0.56958	D	0.05	-35.5764	18.5985	0.91239	0.0:1.0:0.0:0.0	.	509	Q14151	SAFB2_HUMAN	N	405;260;509;509	ENSP00000252542:D509N	ENSP00000252542:D509N	D	-	1	0	SAFB2	5555628	1.000000	0.71417	0.868000	0.34077	0.498000	0.33706	5.365000	0.66116	2.621000	0.88768	0.555000	0.69702	GAC		0.433	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
MYH14	79784	broad.mit.edu	37	19	50784973	50784973	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50784973G>T	ENST00000596571.1	+	30	4290	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	MYH14_ENST00000376970.2_Missense_Mutation_p.E1463D|MYH14_ENST00000601313.1_Missense_Mutation_p.E1471D|MYH14_ENST00000262269.8_Missense_Mutation_p.E1471D|MYH14_ENST00000440075.2_Missense_Mutation_p.E1471D|MYH14_ENST00000425460.1_Missense_Mutation_p.E1438D|MYH14_ENST00000598205.1_Missense_Mutation_p.E1438D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1430					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1471D(1)|p.E1430D(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAAAGACAGAGACCGTGGATC	0.726																																					p.E1438D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4314T	19						.						11.0	16.0	15.0					19																	50784973		1952	4065	6017	55476785	SO:0001583	missense	79784	exon32			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4290G>T	19.37:g.50784973G>T	ENSP00000472819:p.Glu1430Asp		55476785	NM_001077186	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656842	0.29425	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	3.75	1.58	0.23477	Myosin tail (1);	.	.	.	.	T	0.78496	0.4292	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45474	0.859;0.542;0.486	P;B;B	0.48189	0.57;0.388;0.356	T	0.68780	-0.5318	9	0.87932	D	0	.	2.6745	0.05077	0.2578:0.0:0.515:0.2272	.	1471;1430;1438	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	D	1430;1471;1463;1438;1471	ENSP00000406273:E1471D;ENSP00000366169:E1463D;ENSP00000407879:E1438D;ENSP00000262269:E1471D	ENSP00000262269:E1471D	E	+	3	2	MYH14	55476785	0.000000	0.05858	0.192000	0.23308	0.951000	0.60555	-0.817000	0.04472	0.905000	0.36596	0.555000	0.69702	GAG		0.726	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	
SAFB2	9667	broad.mit.edu	37	19	5613529	5613529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5613529C>A	ENST00000252542.4	-	5	817	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E185*(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTAAATCCTTCCCCATCCACC	0.438																																					p.E185X	Ovarian(127;888 1728 23957 44128 52668)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G553T	19						.						125.0	106.0	112.0					19																	5613529		2203	4300	6503	5564529	SO:0001587	stop_gained	9667	exon5			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.553G>T	19.37:g.5613529C>A	ENSP00000252542:p.Glu185*		5564529	NM_014649	B4DKG3|Q8TB13	Nonsense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	C	36	5.643145	0.96704	.	.	ENSG00000130254	ENST00000252542;ENST00000536849	.	.	.	5.47	4.41	0.53225	.	0.358200	0.23494	N	0.047578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.1277	13.1871	0.59688	0.0:0.8398:0.1602:0.0	.	.	.	.	X	185;164	.	ENSP00000252542:E185X	E	-	1	0	SAFB2	5564529	0.320000	0.24616	0.129000	0.21949	0.425000	0.31504	1.837000	0.39201	1.280000	0.44463	0.563000	0.77884	GAA		0.438	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649	
NAPSA	9476	broad.mit.edu	37	19	50865456	50865456	+	Silent	SNP	G	G	T	rs199668068		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50865456G>T	ENST00000253719.2	-	2	406	c.198C>A	c.(196-198)atC>atA	p.I66I	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	66					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.I66I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGGTACGAAGATGGGCTTGT	0.587																																					p.I66I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198A	19						.						72.0	63.0	66.0					19																	50865456		2203	4300	6503	55557268	SO:0001819	synonymous_variant	9476	exon2			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.198C>A	19.37:g.50865456G>T			55557268	NM_004851	Q8WWD9	Silent	SNP	ENST00000253719.2	37	CCDS12794.1																																																																																				0.587	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851	
MYBPC2	4606	broad.mit.edu	37	19	50964828	50964828	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:50964828G>A	ENST00000357701.5	+	25	3012	c.2961G>A	c.(2959-2961)agG>agA	p.R987R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	987	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R987R(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AACGTAACAGGCACACTAGCT	0.527											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R987R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2961A	19						.						109.0	105.0	106.0					19																	50964828		2063	4212	6275	55656640	SO:0001819	synonymous_variant	4606	exon25				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2961G>A	19.37:g.50964828G>A		973	55656640	NM_004533	A1L4G9	Silent	SNP	ENST00000357701.5	37	CCDS46152.1																																																																																				0.527	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	
KLK2	3817	broad.mit.edu	37	19	51379920	51379920	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51379920A>C	ENST00000325321.3	+	3	624	c.399A>C	c.(397-399)acA>acC	p.T133T	KLK2_ENST00000391810.2_Silent_p.T31T|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Silent_p.T133T			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.T133T(1)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCAAGATCACAGATGTTGTGA	0.577			T	ETV4	prostate																																p.T133T			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A399C	19						.						59.0	55.0	57.0					19																	51379920		2203	4300	6503	56071732	SO:0001819	synonymous_variant	3817	exon3			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.399A>C	19.37:g.51379920A>C			56071732	NM_001002231	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	CCDS12808.1																																																																																				0.577	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3	
KLK4	9622	broad.mit.edu	37	19	51411894	51411894	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51411894G>A	ENST00000324041.1	-	3	415	c.416C>T	c.(415-417)tCg>tTg	p.S139L	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Missense_Mutation_p.S90L	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S139L(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGGGCACTGCGAAGCAATGCT	0.587																																					p.S139L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	19						.						116.0	86.0	96.0					19																	51411894		2203	4300	6503	56103706	SO:0001583	missense	9622	exon3			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.416C>T	19.37:g.51411894G>A	ENSP00000326159:p.Ser139Leu		56103706	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	a	15.83	2.950468	0.53186	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.89415	-2.51;-2.51	3.97	2.93	0.34026	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.480647	0.15950	N	0.236787	D	0.91710	0.7379	L	0.55103	1.725	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.65684	0.937;0.909	D	0.84162	0.0429	10	0.56958	D	0.05	.	12.2105	0.54377	0.0969:0.0:0.9031:0.0	.	90;139	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	L	139;90	ENSP00000326159:S139L;ENSP00000399448:S90L	ENSP00000326159:S139L	S	-	2	0	KLK4	56103706	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.509000	0.22707	0.466000	0.27193	-0.945000	0.02674	TCG		0.587	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	
KLK6	5653	broad.mit.edu	37	19	51466793	51466793	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51466793G>T	ENST00000376851.3	-	4	649	c.210C>A	c.(208-210)gtC>gtA	p.V70V	KLK6_ENST00000310157.2_Silent_p.V70V|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.V70V|KLK6_ENST00000456750.2_5'Flank|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Missense_Mutation_p.S18Y|KLK6_ENST00000376853.4_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.V70V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TCCCCAGGAAGACCTGAAGAT	0.582																																					p.V70V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C210A	19						.						45.0	46.0	46.0					19																	51466793		2203	4300	6503	56158605	SO:0001819	synonymous_variant	5653	exon4			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.210C>A	19.37:g.51466793G>T			56158605	NM_001012964	A6NJA1|A8MW09|Q6H301	Silent	SNP	ENST00000376851.3	37	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	12.51	1.960554	0.34565	.	.	ENSG00000167755	ENST00000424910	.	.	.	4.54	-5.21	0.02815	.	.	.	.	.	T	0.35189	0.0923	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.50964	-0.8765	5	0.87932	D	0	.	6.2107	0.20628	0.3252:0.3553:0.3195:0.0	.	.	.	.	Y	18	.	ENSP00000396012:S18Y	S	-	2	0	KLK6	56158605	0.000000	0.05858	0.005000	0.12908	0.888000	0.51559	-0.695000	0.05109	-0.353000	0.08224	-0.336000	0.08194	TCT		0.582	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
KLK12	43849	broad.mit.edu	37	19	51537862	51537862	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51537862A>C	ENST00000525263.1	-	1	135	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	KLK12_ENST00000250352.11_5'UTR|KLK12_ENST00000250351.4_Missense_Mutation_p.F6V|KLK12_ENST00000529888.1_Missense_Mutation_p.F6V|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Missense_Mutation_p.F6V			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	6					proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F6V(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		AGGAGCAAAAAGATGCTGAGC	0.607																																					p.F6V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T16G	19						.						71.0	65.0	67.0					19																	51537862		2203	4300	6503	56229674	SO:0001583	missense	43849	exon2				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.16T>G	19.37:g.51537862A>C	ENSP00000436458:p.Phe6Val		56229674	NM_145894	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	a	6.438	0.448991	0.12223	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000529888;ENST00000250351	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.11	-8.22	0.01037	.	1.521110	0.04667	N	0.410016	D	0.86251	0.5888	L	0.42245	1.32	0.09310	N	1	B;B;B	0.19935	0.04;0.01;0.007	B;B;B	0.19148	0.024;0.011;0.015	T	0.73742	-0.3887	10	0.49607	T	0.09	.	8.0123	0.30361	0.13:0.1109:0.6491:0.11	.	6;6;6	Q9UKR2;Q9UKR0-2;Q9UKR0	.;.;KLK12_HUMAN	V	6	ENSP00000436458:F6V;ENSP00000324181:F6V;ENSP00000434036:F6V;ENSP00000250351:F6V	ENSP00000250351:F6V	F	-	1	0	KLK12	56229674	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.923000	0.00692	-2.591000	0.00456	-1.007000	0.02485	TTT		0.607	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598	
KLK13	26085	broad.mit.edu	37	19	51559891	51559891	+	Nonsense_Mutation	SNP	G	G	A	rs536078012		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51559891G>A	ENST00000595793.1	-	5	829	c.787C>T	c.(787-789)Cga>Tga	p.R263*	KLK13_ENST00000335422.3_Nonsense_Mutation_p.R111*|KLK13_ENST00000595547.1_Nonsense_Mutation_p.R190*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.R263*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCATATTTTCGGATTGTTTCA	0.507																																					p.R263X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C787T	19						.						250.0	235.0	240.0					19																	51559891		2203	4300	6503	56251703	SO:0001587	stop_gained	26085	exon5				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.787C>T	19.37:g.51559891G>A	ENSP00000470555:p.Arg263*		56251703	NM_015596	A7UNK6|Q86VI8|Q9Y433	Nonsense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133749	0.37630	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	.	.	.	4.34	-0.69	0.11309	.	1.340470	0.05170	N	0.499377	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.0164	0.01508	0.2019:0.1496:0.4186:0.2298	.	.	.	.	X	263;111	.	ENSP00000156476:R263X	R	-	1	2	KLK13	56251703	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.475000	0.06599	-0.101000	0.12219	-0.143000	0.13931	CGA		0.507	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596	
KLK13	26085	broad.mit.edu	37	19	51559985	51559985	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51559985G>A	ENST00000595793.1	-	5	735	c.693C>T	c.(691-693)atC>atT	p.I231I	KLK13_ENST00000335422.3_Silent_p.I79I|KLK13_ENST00000595547.1_Silent_p.I158I	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	231	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.I231I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CCCAGGAGACGATGCCATACA	0.552																																					p.I231I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	19						.						97.0	96.0	96.0					19																	51559985		2203	4300	6503	56251797	SO:0001819	synonymous_variant	26085	exon5				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.693C>T	19.37:g.51559985G>A			56251797	NM_015596	A7UNK6|Q86VI8|Q9Y433	Silent	SNP	ENST00000595793.1	37	CCDS12822.1																																																																																				0.552	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596	
SIGLEC9	27180	broad.mit.edu	37	19	51629096	51629096	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51629096G>T	ENST00000250360.3	+	2	731	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.V222L	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	222	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.V222L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGGGGCCAGCGTGACCACGAA	0.662																																					p.V222L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664T	19						.						86.0	82.0	83.0					19																	51629096		2203	4300	6503	56320908	SO:0001583	missense	27180	exon2			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.664G>T	19.37:g.51629096G>T	ENSP00000250360:p.Val222Leu		56320908	NM_001198558	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	5.711	0.315657	0.10789	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.03330	3.97;3.97	2.88	1.72	0.24424	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37261	N	0.002176	T	0.04998	0.0134	M	0.82923	2.615	0.09310	N	1	P	0.47484	0.896	B	0.34931	0.192	T	0.37888	-0.9686	10	0.87932	D	0	.	6.0163	0.19605	0.0:0.0:0.6616:0.3384	.	222	Q9Y336	SIGL9_HUMAN	L	222	ENSP00000413861:V222L;ENSP00000250360:V222L	ENSP00000250360:V222L	V	+	1	0	SIGLEC9	56320908	0.000000	0.05858	0.008000	0.14137	0.238000	0.25445	-0.116000	0.10724	1.425000	0.47237	0.514000	0.50259	GTG		0.662	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441	
SIGLEC7	27036	broad.mit.edu	37	19	51645960	51645960	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51645960G>A	ENST00000317643.6	+	1	403	c.334G>A	c.(334-336)Gat>Aat	p.D112N	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.D112N|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.D112N	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	112	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.D112N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GAGCATCAGAGATGCCAGAAT	0.488																																					p.D112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	19						.						107.0	105.0	106.0					19																	51645960		2203	4300	6503	56337772	SO:0001583	missense	27036	exon1			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.334G>A	19.37:g.51645960G>A	ENSP00000323328:p.Asp112Asn		56337772	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	16.11	3.029445	0.54790	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.43688	0.94;0.94;0.94	2.89	0.471	0.16752	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.377447	0.18948	N	0.126778	T	0.49133	0.1539	L	0.58510	1.815	0.09310	N	1	D;B;D	0.89917	0.996;0.116;1.0	P;B;D	0.87578	0.855;0.063;0.998	T	0.36016	-0.9765	10	0.22706	T	0.39	.	3.4048	0.07336	0.1478:0.0:0.6019:0.2503	.	112;112;112	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	N	112	ENSP00000323328:D112N;ENSP00000306757:D112N;ENSP00000437609:D112N	ENSP00000306757:D112N	D	+	1	0	SIGLEC7	56337772	0.007000	0.16637	0.449000	0.26957	0.247000	0.25773	1.142000	0.31540	0.080000	0.16959	0.530000	0.56133	GAT		0.488	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
SIGLEC7	27036	broad.mit.edu	37	19	51650040	51650040	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51650040C>T	ENST00000317643.6	+	5	1126	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.L260L	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	353					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.L353L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AGGAGTGTTGCTGGGGGCGGT	0.547																																					p.L353L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1057T	19						.						86.0	85.0	86.0					19																	51650040		2203	4300	6503	56341852	SO:0001819	synonymous_variant	27036	exon5			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1057C>T	19.37:g.51650040C>T			56341852	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.547	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
SIGLEC7	27036	broad.mit.edu	37	19	51656391	51656391	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51656391G>A	ENST00000317643.6	+	7	1362	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000600577.1_3'UTR|SIGLEC7_ENST00000305628.7_Silent_p.E338E	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	431					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E431E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCAGGGGAGGAAAGAGAGA	0.537																																					p.E431E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1293A	19						.						121.0	118.0	119.0					19																	51656391		2203	4300	6503	56348203	SO:0001819	synonymous_variant	27036	exon7			AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1293G>A	19.37:g.51656391G>A			56348203	NM_014385	Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Silent	SNP	ENST00000317643.6	37	CCDS12826.1																																																																																				0.537	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543	
LIM2	3982	broad.mit.edu	37	19	51883795	51883795	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51883795G>A	ENST00000596399.1	-	4	471	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	LIM2_ENST00000221973.3_Silent_p.L184L	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	142					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)	p.L184L(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ACCCAGCCCAGGATGTAGGAC	0.612																																					p.L142L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C424T	19						.						147.0	148.0	148.0					19																	51883795		2203	4300	6503	56575607	SO:0001819	synonymous_variant	3982	exon4				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.424C>T	19.37:g.51883795G>A			56575607	NM_001161748	Q6B083|Q9BXD0|Q9HAR5	Silent	SNP	ENST00000596399.1	37	CCDS59415.1																																																																																				0.612	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657	
SIGLEC10	89790	broad.mit.edu	37	19	51920402	51920402	+	Missense_Mutation	SNP	G	G	A	rs374849658		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51920402G>A	ENST00000339313.5	-	2	471	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R119W|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R119W|CTD-2616J11.2_ENST00000532688.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R119W|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.R119W|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R119W|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R119W|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.R119W|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.R119W			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	119	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R119W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTCTCCACCCGAAAGAAGTAC	0.527																																					p.R119W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C355T	19						.						64.0	65.0	65.0					19																	51920402		2203	4300	6503	56612214	SO:0001583	missense	89790	exon2			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.355C>T	19.37:g.51920402G>A	ENSP00000345243:p.Arg119Trp		56612214	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	14.28	2.488955	0.44249	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	4.85	2.53	0.30540	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000091	T	0.79100	0.4389	M	0.80183	2.485	0.39953	D	0.97456	P;P;D;P;D;D;D	0.89917	0.65;0.6;1.0;0.746;0.985;0.975;0.981	B;B;D;B;P;B;P	0.78314	0.359;0.32;0.991;0.262;0.772;0.446;0.907	T	0.80063	-0.1539	10	0.54805	T	0.06	.	9.3898	0.38365	0.0:0.0:0.6114:0.3886	.	119;119;119;119;119;119;119	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	W	119;119;119;119;119;119;119;119;119;86	ENSP00000342389:R119W;ENSP00000396742:R119W;ENSP00000395475:R119W;ENSP00000348646:R119W;ENSP00000408387:R119W;ENSP00000431444:R119W;ENSP00000389132:R119W;ENSP00000414324:R119W;ENSP00000345243:R119W;ENSP00000433838:R86W	ENSP00000345243:R119W	R	-	1	2	SIGLEC10	56612214	0.694000	0.27738	0.375000	0.26029	0.104000	0.19210	0.630000	0.24553	1.018000	0.39521	0.205000	0.17691	CGG		0.527	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
SIGLEC8	27181	broad.mit.edu	37	19	51961580	51961580	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:51961580C>A	ENST00000321424.3	-	1	128	c.62G>T	c.(61-63)aGa>aTa	p.R21I	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R21I|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R21I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	21					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R21I(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCATATTGTCTGTCTCCCTC	0.617																																					p.R21I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62T	19						.						93.0	89.0	90.0					19																	51961580		2203	4300	6503	56653392	SO:0001583	missense	27181	exon1			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.62G>T	19.37:g.51961580C>A	ENSP00000321077:p.Arg21Ile		56653392	NM_014442	Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	7.298	0.612419	0.14066	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62498	1.37;0.02;1.15	2.08	-4.15	0.03881	.	8.648920	0.00166	N	0.000000	T	0.41926	0.1180	L	0.38838	1.175	0.09310	N	1	B;P;B	0.35077	0.006;0.483;0.007	B;B;B	0.28232	0.001;0.087;0.006	T	0.15206	-1.0445	10	0.21014	T	0.42	.	0.9551	0.01384	0.4387:0.2486:0.1631:0.1496	.	21;21;21	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	I	21	ENSP00000389142:R21I;ENSP00000321077:R21I;ENSP00000339448:R21I	ENSP00000321077:R21I	R	-	2	0	SIGLEC8	56653392	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.286000	0.08399	-1.124000	0.02936	0.508000	0.49915	AGA		0.617	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
SIGLEC6	946	broad.mit.edu	37	19	52033129	52033129	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52033129G>A	ENST00000425629.3	-	5	1015	c.861C>T	c.(859-861)ttC>ttT	p.F287F	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Silent_p.F298F|SIGLEC6_ENST00000346477.3_Silent_p.F271F|SIGLEC6_ENST00000343300.4_Silent_p.F287F|SIGLEC6_ENST00000436458.1_Silent_p.F235F|SIGLEC6_ENST00000391797.3_Silent_p.F276F	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	287	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.F287F(1)|p.F260F(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGAAGCCCTGGAACCAGCTCA	0.622																																					p.F287F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C861T	19						.						69.0	78.0	75.0					19																	52033129		2200	4298	6498	56724941	SO:0001819	synonymous_variant	946	exon5			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.861C>T	19.37:g.52033129G>A			56724941	NM_001245	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	CCDS12834.3																																																																																				0.622	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
ZNF175	7728	broad.mit.edu	37	19	52090274	52090274	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52090274T>C	ENST00000262259.2	+	5	1048	c.690T>C	c.(688-690)ggT>ggC	p.G230G	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	230					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G230G(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TTGGGTCTGGTCAGCTATTCA	0.418																																					p.G230G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T690C	19						.						74.0	68.0	70.0					19																	52090274		2203	4299	6502	56782086	SO:0001819	synonymous_variant	7728	exon5			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.690T>C	19.37:g.52090274T>C			56782086	NM_007147	A8K9H2	Silent	SNP	ENST00000262259.2	37	CCDS12837.1																																																																																				0.418	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
SIGLEC5	8778	broad.mit.edu	37	19	52115563	52115563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52115563G>T	ENST00000534261.2	-	10	1976	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S526Y|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.S526Y|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S526Y|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S526Y			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	526					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S526Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTCATCTCAGAAAAACTAAG	0.552																																					p.S526Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1577A	19						.						128.0	122.0	124.0					19																	52115563		2203	4300	6503	56807375	SO:0001583	missense	8778	exon9			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1577C>A	19.37:g.52115563G>T	ENSP00000473238:p.Ser526Tyr		56807375	NM_003830		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	1.841	-0.467347	0.04476	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.04917	3.53;3.53	3.36	-3.4	0.04853	.	.	.	.	.	T	0.04048	0.0113	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41106	-0.9527	9	0.46703	T	0.11	.	2.8978	0.05696	0.1459:0.1027:0.4818:0.2695	.	526	O15389	SIGL5_HUMAN	Y	526	ENSP00000222107:S526Y;ENSP00000415200:S526Y	ENSP00000222107:S526Y	S	-	2	0	SIGLEC5	56807375	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	-0.155000	0.10115	-0.901000	0.03891	-1.036000	0.02392	TCT		0.552	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
SIGLEC5	8778	broad.mit.edu	37	19	52131217	52131217	+	Silent	SNP	G	G	A	rs376870702	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52131217G>A	ENST00000534261.2	-	6	1266	c.867C>T	c.(865-867)aaC>aaT	p.N289N	SIGLEC5_ENST00000570106.2_Silent_p.N289N|SIGLEC5_ENST00000222107.4_Silent_p.N289N|SIGLEC5_ENST00000429354.3_Silent_p.N289N|SIGLEC5_ENST00000599649.1_Silent_p.N289N			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	289	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N289N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGGGGTGGCGTTCAGGGCAG	0.647													G|||	5	0.000998403	0.003	0.0	5008	,	,		16602	0.0		0.001	False		,,,				2504	0.0				p.N289N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	65.0	72.0	69.0		867	-5.3	0.0	19		69	0,8600		0,0,4300	no	coding-synonymous	SIGLEC5	NM_003830.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		289/552	52131217	1,13005	2203	4300	6503	56823029	SO:0001819	synonymous_variant	8778	exon5			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.867C>T	19.37:g.52131217G>A			56823029	NM_003830		Silent	SNP	ENST00000534261.2	37	CCDS33088.1																																																																																				0.647	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
CATSPERD	257062	broad.mit.edu	37	19	5745965	5745965	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5745965C>T	ENST00000381624.3	+	9	760	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	233					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F233F(3)									ACCGGAGTTTCGGGCTGTCTT	0.532																																					p.F233F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C699T	19						.						167.0	160.0	163.0					19																	5745965		1888	4121	6009	5696965	SO:0001819	synonymous_variant	257062	exon9			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.699C>T	19.37:g.5745965C>T			5696965	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																				0.532	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
HAS1	3036	broad.mit.edu	37	19	52222483	52222483	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52222483G>A	ENST00000222115.1	-	2	712	c.678C>T	c.(676-678)ctC>ctT	p.L226L	HAS1_ENST00000601714.1_Silent_p.L233L|HAS1_ENST00000594621.1_Silent_p.L80L|HAS1_ENST00000540069.2_Silent_p.L225L	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	226					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.L226L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGAATCTCCGAGCGCCTTGA	0.627																																					p.L226L	NSCLC(132;636 2450 45807 47979)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678T	19						.						45.0	39.0	41.0					19																	52222483		2200	4297	6497	56914295	SO:0001819	synonymous_variant	3036	exon2			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.678C>T	19.37:g.52222483G>A			56914295	NM_001523	Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	CCDS12838.1																																																																																				0.627	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
CATSPERD	257062	broad.mit.edu	37	19	5754252	5754252	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5754252C>A	ENST00000381624.3	+	13	1335	c.1274C>A	c.(1273-1275)cCt>cAt	p.P425H	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.P83H	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	425					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.P425H(1)									TCCCTGATTCCTCTGGTAAGT	0.493																																					p.P425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1274A	19						.						117.0	119.0	118.0					19																	5754252		1985	4173	6158	5705252	SO:0001583	missense	257062	exon13			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1274C>A	19.37:g.5754252C>A	ENSP00000371037:p.Pro425His		5705252	NM_152784	Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477732	0.44044	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.25250	1.81;1.81	3.53	3.53	0.40419	.	0.000000	0.40554	N	0.001074	T	0.44953	0.1318	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.982;1.0	T	0.15407	-1.0438	10	0.87932	D	0	-22.3753	10.7762	0.46350	0.0:1.0:0.0:0.0	.	351;425	B7WNK5;Q86XM0	.;TM146_HUMAN	H	351;425;83;96;94	ENSP00000371037:P425H;ENSP00000371027:P83H	ENSP00000310546:P96H	P	+	2	0	TMEM146	5705252	0.008000	0.16893	0.009000	0.14445	0.008000	0.06430	1.607000	0.36836	1.993000	0.58246	0.549000	0.68633	CCT		0.493	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
FPR3	2359	broad.mit.edu	37	19	52327243	52327243	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52327243G>A	ENST00000339223.4	+	2	421	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	FPR3_ENST00000595991.1_Missense_Mutation_p.R81Q	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	81					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R81Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTACCATTCCGAATGGTCTCA	0.468																																					p.R81Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242A	19						.						145.0	113.0	124.0					19																	52327243		2203	4300	6503	57019055	SO:0001583	missense	2359	exon2				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.242G>A	19.37:g.52327243G>A	ENSP00000341821:p.Arg81Gln		57019055	NM_002030		Missense_Mutation	SNP	ENST00000339223.4	37	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0.279	-0.987527	0.02180	.	.	ENSG00000187474	ENST00000339223	T	0.71934	-0.61	2.19	-2.25	0.06888	GPCR, rhodopsin-like superfamily (1);	0.937585	0.08941	N	0.871588	T	0.33990	0.0882	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13415	-1.0510	10	0.29301	T	0.29	.	3.7568	0.08588	0.3472:0.0:0.3885:0.2644	.	81	P25089	FPR3_HUMAN	Q	81	ENSP00000341821:R81Q	ENSP00000341821:R81Q	R	+	2	0	FPR3	57019055	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.334000	0.07883	-0.879000	0.04002	-1.547000	0.00903	CGA		0.468	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030	
ZNF577	84765	broad.mit.edu	37	19	52375952	52375952	+	Missense_Mutation	SNP	G	G	A	rs45526832		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52375952G>A	ENST00000301399.5	-	7	1656	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.R372C|ZNF577_ENST00000420592.1_Missense_Mutation_p.R372C	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	431					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.R424C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCCACTAGGCGCTCACTCTTG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19463	0.0		0.0	False		,,,				2504	0.0				p.R431C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	19						.						68.0	65.0	66.0					19																	52375952		2203	4300	6503	57067764	SO:0001583	missense	84765	exon7			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1291C>T	19.37:g.52375952G>A	ENSP00000301399:p.Arg431Cys		57067764	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	6.487	0.458037	0.12342	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06608	3.29;3.33;3.33;3.28	2.51	-4.19	0.03835	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P;P	0.45044	0.765;0.849	B;B	0.34722	0.092;0.188	T	0.38564	-0.9655	9	0.66056	D	0.02	.	3.6054	0.08041	0.4995:0.0:0.3165:0.184	rs45526832	431;372	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	C	431;372;372;431	ENSP00000301399:R431C;ENSP00000413476:R372C;ENSP00000389652:R372C;ENSP00000404509:R431C	ENSP00000301399:R431C	R	-	1	0	ZNF577	57067764	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.632000	0.05489	-0.940000	0.03705	-0.150000	0.13652	CGC		0.413	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679	
ZNF649	65251	broad.mit.edu	37	19	52395111	52395111	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52395111T>C	ENST00000354957.3	-	5	562	c.278A>G	c.(277-279)cAa>cGa	p.Q93R	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.Q93R	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q93R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TTTTTGGTTTTGCAAGGGCTG	0.388																																					p.Q93R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A278G	19						.						103.0	100.0	101.0					19																	52395111		2203	4300	6503	57086923	SO:0001583	missense	65251	exon5			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.278A>G	19.37:g.52395111T>C	ENSP00000347043:p.Gln93Arg		57086923	NM_023074	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	9.389	1.074964	0.20227	.	.	ENSG00000198093	ENST00000354957	T	0.06142	3.34	2.49	2.49	0.30216	.	.	.	.	.	T	0.04092	0.0114	N	0.24115	0.695	0.09310	N	1	P	0.35575	0.51	B	0.29176	0.099	T	0.41980	-0.9478	9	0.30078	T	0.28	.	8.4888	0.33086	0.0:0.0:0.0:1.0	.	93	Q9BS31	ZN649_HUMAN	R	93	ENSP00000347043:Q93R	ENSP00000347043:Q93R	Q	-	2	0	ZNF649	57086923	0.000000	0.05858	0.015000	0.15790	0.051000	0.14879	0.649000	0.24843	1.150000	0.42419	0.332000	0.21555	CAA		0.388	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
ZNF350	59348	broad.mit.edu	37	19	52469050	52469050	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52469050G>T	ENST00000243644.4	-	5	883	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	219					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S219Y(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGTTAGCCAAGACTTCTTGAT	0.428																																					p.S219Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656A	19						.						192.0	174.0	180.0					19																	52469050		2203	4300	6503	57160862	SO:0001583	missense	59348	exon5			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.656C>A	19.37:g.52469050G>T	ENSP00000243644:p.Ser219Tyr		57160862	NM_021632	Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161870	0.21538	.	.	ENSG00000256683	ENST00000243644	T	0.18502	2.21	3.09	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36482	N	0.002573	T	0.34135	0.0887	M	0.88450	2.955	0.09310	N	1	D	0.61697	0.99	P	0.55615	0.78	T	0.15925	-1.0420	10	0.66056	D	0.02	.	5.4759	0.16695	0.117:0.4063:0.4767:0.0	.	219	Q9GZX5	ZN350_HUMAN	Y	219	ENSP00000243644:S219Y	ENSP00000243644:S219Y	S	-	2	0	ZNF350	57160862	0.000000	0.05858	0.245000	0.24217	0.254000	0.26022	0.022000	0.13511	0.634000	0.30469	0.591000	0.81541	TCT		0.428	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632	
ZNF615	284370	broad.mit.edu	37	19	52497070	52497070	+	Missense_Mutation	SNP	C	C	T	rs142913953	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52497070C>T	ENST00000602063.1	-	6	1608	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF615_ENST00000391795.3_Missense_Mutation_p.R425Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R431Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R420Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.R431Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	420					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.R420Q(2)|p.R431Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGTATGAGTTCGTTGATGTAC	0.413													C|||	7	0.00139776	0.0	0.0	5008	,	,		22491	0.0069		0.0	False		,,,				2504	0.0				p.R420Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G1259A	19						.						86.0	77.0	80.0					19																	52497070		2203	4300	6503	57188882	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1259G>A	19.37:g.52497070C>T	ENSP00000473089:p.Arg420Gln		57188882	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	16.11	3.028894	0.54790	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.02369	4.32;4.32	2.99	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	L	0.49699	1.58	0.26239	N	0.978907	D;D;D;D	0.55800	0.973;0.966;0.966;0.973	B;B;B;B	0.31751	0.135;0.12;0.12;0.135	T	0.47861	-0.9084	9	0.87932	D	0	.	6.1114	0.20102	0.0:0.6902:0.1923:0.1175	.	425;427;431;420	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	420;430;425;430	ENSP00000365906:R420Q;ENSP00000375672:R425Q	ENSP00000347019:R430Q	R	-	2	0	ZNF615	57188882	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.054000	0.14205	0.574000	0.29417	0.585000	0.79938	CGA		0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF615	284370	broad.mit.edu	37	19	52497571	52497571	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52497571G>A	ENST00000602063.1	-	6	1107	c.758C>T	c.(757-759)aCt>aTt	p.T253I	ZNF615_ENST00000391795.3_Missense_Mutation_p.T258I|ZNF615_ENST00000594083.1_Missense_Mutation_p.T264I|ZNF615_ENST00000376716.5_Missense_Mutation_p.T253I|ZNF615_ENST00000598071.1_Missense_Mutation_p.T264I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	253					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.T253I(1)|p.T264I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCTGTATGAGTTCTCTGATG	0.388																																					p.T253I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C758T	19						.						157.0	147.0	150.0					19																	52497571		2203	4300	6503	57189383	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.758C>T	19.37:g.52497571G>A	ENSP00000473089:p.Thr253Ile		57189383	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.496506	0.00010	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.12672	2.66;2.66	3.42	-6.83	0.01693	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.13299	0.325	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39800	-0.9596	9	0.02654	T	1	.	3.3289	0.07077	0.5067:0.1924:0.2041:0.0968	.	258;260;264;253	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	253;263;258;263	ENSP00000365906:T253I;ENSP00000375672:T258I	ENSP00000347019:T263I	T	-	2	0	ZNF615	57189383	0.000000	0.05858	0.002000	0.10522	0.313000	0.28021	-2.228000	0.01209	-2.298000	0.00660	-0.266000	0.10368	ACT		0.388	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF614	80110	broad.mit.edu	37	19	52520188	52520188	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52520188A>C	ENST00000270649.6	-	5	1207	c.663T>G	c.(661-663)atT>atG	p.I221M	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	221					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.I221M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCATGGTAAATGAGCTGAG	0.388																																					p.I221M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T663G	19						.						95.0	87.0	90.0					19																	52520188		2203	4300	6503	57212000	SO:0001583	missense	80110	exon5			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.663T>G	19.37:g.52520188A>C	ENSP00000270649:p.Ile221Met		57212000	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638722	0.47153	.	.	ENSG00000142556	ENST00000270649	T	0.15834	2.39	4.06	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	M	0.65975	2.015	0.09310	N	1	B	0.22480	0.07	B	0.18263	0.021	T	0.26985	-1.0087	9	0.51188	T	0.08	.	4.3182	0.11003	0.7235:0.0:0.1008:0.1756	.	221	Q8N883	ZN614_HUMAN	M	221	ENSP00000270649:I221M	ENSP00000270649:I221M	I	-	3	3	ZNF614	57212000	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	0.178000	0.16820	0.137000	0.18759	0.533000	0.62120	ATT		0.388	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
ZNF432	9668	broad.mit.edu	37	19	52537316	52537316	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52537316T>C	ENST00000594154.1	-	5	1828	c.1616A>G	c.(1615-1617)aAa>aGa	p.K539R	ZNF432_ENST00000221315.5_Missense_Mutation_p.K539R			O94892	ZN432_HUMAN	zinc finger protein 432	539					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.K539R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CATAAAGGGTTTCTCTCCAGT	0.388																																					p.K539R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1616G	19						.						106.0	98.0	100.0					19																	52537316		2203	4300	6503	57229128	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1616A>G	19.37:g.52537316T>C	ENSP00000470488:p.Lys539Arg		57229128	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098387	0.37048	.	.	ENSG00000256087	ENST00000221315	T	0.24908	1.83	2.81	2.81	0.32909	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	L	0.28458	0.855	0.20764	N	0.999855	B	0.18863	0.031	B	0.27262	0.078	T	0.19614	-1.0300	9	0.49607	T	0.09	.	6.1133	0.20112	0.0:0.1316:0.0:0.8684	.	539	O94892	ZN432_HUMAN	R	539	ENSP00000221315:K539R	ENSP00000221315:K539R	K	-	2	0	ZNF432	57229128	0.000000	0.05858	0.995000	0.50966	0.994000	0.84299	-0.226000	0.09139	1.292000	0.44672	0.533000	0.62120	AAA		0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
CATSPERD	257062	broad.mit.edu	37	19	5776306	5776306	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:5776306G>A	ENST00000381624.3	+	21	2137	c.2076G>A	c.(2074-2076)tcG>tcA	p.S692S	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	692					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.S692S(1)									TCTACATTTCGATCGTGGATC	0.587																																					p.S692S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2076A	19						.						85.0	84.0	84.0					19																	5776306		1928	4129	6057	5727306	SO:0001819	synonymous_variant	257062	exon21			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2076G>A	19.37:g.5776306G>A			5727306	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																				0.587	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
ZNF432	9668	broad.mit.edu	37	19	52538153	52538153	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52538153G>T	ENST00000594154.1	-	5	991	c.779C>A	c.(778-780)tCt>tAt	p.S260Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.S260Y			O94892	ZN432_HUMAN	zinc finger protein 432	260					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.S260Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCATATAAAAGATTTCTCTCT	0.373																																					p.S260Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C779A	19						.						85.0	90.0	88.0					19																	52538153		2203	4300	6503	57229965	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.779C>A	19.37:g.52538153G>T	ENSP00000470488:p.Ser260Tyr		57229965	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248829	0.39797	.	.	ENSG00000256087	ENST00000221315	T	0.18338	2.22	2.9	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30572	0.0769	L	0.45470	1.425	0.30676	N	0.752808	D	0.65815	0.995	P	0.60789	0.879	T	0.17410	-1.0370	9	0.72032	D	0.01	.	12.9715	0.58515	0.0:0.0:1.0:0.0	.	260	O94892	ZN432_HUMAN	Y	260	ENSP00000221315:S260Y	ENSP00000221315:S260Y	S	-	2	0	ZNF432	57229965	0.073000	0.21202	0.970000	0.41538	0.906000	0.53458	2.545000	0.45769	1.630000	0.50440	0.585000	0.79938	TCT		0.373	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF616	90317	broad.mit.edu	37	19	52618710	52618710	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52618710T>G	ENST00000600228.1	-	4	1968	c.1707A>C	c.(1705-1707)agA>agC	p.R569S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R569S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CACTATGAATTCTCCGATGCA	0.433																																					p.R569S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1707C	19						.						114.0	100.0	105.0					19																	52618710		2203	4300	6503	57310522	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1707A>C	19.37:g.52618710T>G	ENSP00000471000:p.Arg569Ser		57310522	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395576	0.25205	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49012	0.1532	L	0.52823	1.66	0.09310	N	1	D	0.53619	0.961	P	0.56648	0.803	T	0.32241	-0.9914	8	0.66056	D	0.02	.	7.6168	0.28163	0.0:0.0:0.0:1.0	.	569	Q08AN1	ZN616_HUMAN	S	569	.	ENSP00000328722:R569S	R	-	3	2	ZNF616	57310522	0.000000	0.05858	0.003000	0.11579	0.223000	0.24884	-0.967000	0.03821	0.736000	0.32559	0.254000	0.18369	AGA		0.433	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF616	90317	broad.mit.edu	37	19	52619479	52619479	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52619479C>A	ENST00000600228.1	-	4	1199	c.938G>T	c.(937-939)aGa>aTa	p.R313I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	313					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.R313I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTGATGAAGTCTAAGATGGAC	0.413																																					p.R313I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G938T	19						.						109.0	105.0	106.0					19																	52619479		2203	4300	6503	57311291	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.938G>T	19.37:g.52619479C>A	ENSP00000471000:p.Arg313Ile		57311291	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722160	0.30503	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.825	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.11341	0.13	0.09310	N	1	B	0.17667	0.023	B	0.01281	0.0	T	0.29822	-0.9999	8	0.08179	T	0.78	.	3.7114	0.08421	0.2221:0.2714:0.5065:0.0	.	313	Q08AN1	ZN616_HUMAN	I	313	.	ENSP00000328722:R313I	R	-	2	0	ZNF616	57311291	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	-3.421000	0.00477	-0.763000	0.04658	0.305000	0.20034	AGA		0.413	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF616	90317	broad.mit.edu	37	19	52619593	52619593	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52619593C>T	ENST00000600228.1	-	4	1085	c.824G>A	c.(823-825)gGc>gAc	p.G275D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	275					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.G275D(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AAAGGACTTGCCACATTCATT	0.378																																					p.G275D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	19						.						73.0	72.0	72.0					19																	52619593		2203	4300	6503	57311405	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.824G>A	19.37:g.52619593C>T	ENSP00000471000:p.Gly275Asp		57311405	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757233	0.49468	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.954	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50292	0.1607	L	0.49126	1.545	0.26583	N	0.973347	D	0.67145	0.996	P	0.59825	0.864	T	0.39396	-0.9616	8	0.66056	D	0.02	.	9.4055	0.38460	0.0:1.0:0.0:0.0	.	275	Q08AN1	ZN616_HUMAN	D	275	.	ENSP00000328722:G275D	G	-	2	0	ZNF616	57311405	0.000000	0.05858	0.008000	0.14137	0.241000	0.25554	0.005000	0.13129	0.809000	0.34255	0.305000	0.20034	GGC		0.378	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF616	90317	broad.mit.edu	37	19	52620049	52620049	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52620049C>A	ENST00000600228.1	-	4	629	c.368G>T	c.(367-369)aGa>aTa	p.R123I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R123I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATGTTGATCTCTTTTACCAGT	0.368																																					p.R123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368T	19						.						214.0	191.0	199.0					19																	52620049		2202	4300	6502	57311861	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.368G>T	19.37:g.52620049C>A	ENSP00000471000:p.Arg123Ile		57311861	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	5.469	0.271644	0.10349	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	-3.27	0.05048	.	.	.	.	.	T	0.28400	0.0702	L	0.48642	1.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20505	-1.0273	8	0.38643	T	0.18	.	3.0698	0.06226	0.2042:0.5008:0.0:0.295	.	123	Q08AN1	ZN616_HUMAN	I	123	.	ENSP00000328722:R123I	R	-	2	0	ZNF616	57311861	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-4.362000	0.00246	-1.142000	0.02869	-0.680000	0.03767	AGA		0.368	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF836	162962	broad.mit.edu	37	19	52659131	52659131	+	Missense_Mutation	SNP	C	C	A	rs532993293	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52659131C>A	ENST00000322146.8	-	5	2326	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.R602I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R602I(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTATGAATTCTTAGATGACG	0.393																																					p.R602I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1805T	19						.						133.0	145.0	141.0					19																	52659131		2146	4275	6421	57350943	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1805G>T	19.37:g.52659131C>A	ENSP00000325038:p.Arg602Ile		57350943	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529915	0.27387	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.24908	1.83	2.09	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20333	0.0489	L	0.52266	1.64	0.09310	N	1	P	0.38767	0.646	B	0.41946	0.371	T	0.12811	-1.0533	9	0.59425	D	0.04	.	1.8312	0.03130	0.1297:0.1595:0.3721:0.3386	.	602	Q6ZNA1	ZN836_HUMAN	I	602;176	ENSP00000325038:R602I	ENSP00000325038:R602I	R	-	2	0	ZNF836	57350943	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.849000	0.00351	-1.382000	0.02109	0.484000	0.47621	AGA		0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF766	90321	broad.mit.edu	37	19	52794016	52794016	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52794016G>T	ENST00000439461.1	+	4	1015	c.972G>T	c.(970-972)gaG>gaT	p.E324D	ZNF766_ENST00000593612.1_Missense_Mutation_p.E339D|ZNF766_ENST00000359102.4_Missense_Mutation_p.E339D|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E324D(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATACAGGAGAGAAACTTTACA	0.363																																					p.E324D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G972T	19						.						29.0	32.0	31.0					19																	52794016		2122	4268	6390	57485828	SO:0001583	missense	90321	exon4			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.972G>T	19.37:g.52794016G>T	ENSP00000409652:p.Glu324Asp		57485828	NM_001010851	B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	G	7.545	0.661443	0.14645	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	T;T	0.26810	1.71;1.71	2.38	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31358	0.0794	L	0.33485	1.01	0.23221	N	0.99809	P;D	0.58268	0.938;0.982	P;P	0.59012	0.616;0.85	T	0.12016	-1.0564	9	0.87932	D	0	.	7.8641	0.29526	0.137:0.0:0.863:0.0	.	339;324	G3XAE0;Q5HY98	.;ZN766_HUMAN	D	324;339	ENSP00000409652:E324D;ENSP00000352005:E339D	ENSP00000352005:E339D	E	+	3	2	ZNF766	57485828	1.000000	0.71417	0.033000	0.17914	0.046000	0.14306	1.277000	0.33167	0.318000	0.23185	0.650000	0.86243	GAG		0.363	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851	
ZNF610	162963	broad.mit.edu	37	19	52869600	52869600	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52869600G>A	ENST00000403906.3	+	6	1425	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ZNF610_ENST00000327920.8_Silent_p.K323K|ZNF610_ENST00000601151.1_Silent_p.K280K|ZNF610_ENST00000321287.8_Silent_p.K323K	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K323K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGTGTGGCAAGAACTTCAGGC	0.403																																					p.K323K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G969A	19						.						62.0	61.0	61.0					19																	52869600		2203	4300	6503	57561412	SO:0001819	synonymous_variant	162963	exon6			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.969G>A	19.37:g.52869600G>A			57561412	NM_173530	A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	CCDS12851.1																																																																																				0.403	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF528	84436	broad.mit.edu	37	19	52918941	52918941	+	Missense_Mutation	SNP	G	G	A	rs202043315		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52918941G>A	ENST00000360465.3	+	7	1262	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R279Q(2)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAGGTCTTTCGAAGCAGTTCA	0.388																																					p.R279Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G836A	19						.	G	GLN/ARG	0,4406		0,0,2203	95.0	99.0	98.0		836	-1.3	0.0	19		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF528	NM_032423.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	279/629	52918941	1,13005	2203	4300	6503	57610753	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.836G>A	19.37:g.52918941G>A	ENSP00000353652:p.Arg279Gln		57610753	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454704	0.26161	0.0	1.16E-4	ENSG00000167555	ENST00000360465	T	0.18338	2.22	1.85	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	L	0.39633	1.23	0.09310	N	1	P	0.49358	0.923	B	0.33620	0.167	T	0.25779	-1.0122	9	0.45353	T	0.12	.	9.7711	0.40589	0.0:0.7035:0.2965:0.0	.	279	Q3MIS6	ZN528_HUMAN	Q	279	ENSP00000353652:R279Q	ENSP00000353652:R279Q	R	+	2	0	ZNF528	57610753	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.127000	0.00148	0.086000	0.17137	0.491000	0.48974	CGA		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF528	84436	broad.mit.edu	37	19	52919616	52919616	+	Missense_Mutation	SNP	G	G	A	rs372030934		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52919616G>A	ENST00000360465.3	+	7	1937	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	504					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.R504H(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTCTTCAGTCGCAGTTCAAAC	0.398																																					p.R504H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511A	19						.	G	HIS/ARG	0,4406		0,0,2203	50.0	50.0	50.0		1511	-3.7	0.0	19		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF528	NM_032423.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	504/629	52919616	1,13005	2203	4300	6503	57611428	SO:0001583	missense	84436	exon7			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1511G>A	19.37:g.52919616G>A	ENSP00000353652:p.Arg504His		57611428	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364970	0.24684	0.0	1.16E-4	ENSG00000167555	ENST00000360465	T	0.05580	3.42	1.83	-3.66	0.04489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	L	0.36672	1.1	0.09310	N	1	B	0.27229	0.172	B	0.22753	0.041	T	0.46541	-0.9184	9	0.13853	T	0.58	.	1.9599	0.03384	0.1367:0.1492:0.4568:0.2573	.	504	Q3MIS6	ZN528_HUMAN	H	504	ENSP00000353652:R504H	ENSP00000353652:R504H	R	+	2	0	ZNF528	57611428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.827000	0.00096	-0.996000	0.03455	-0.312000	0.09012	CGC		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF534	147658	broad.mit.edu	37	19	52941430	52941430	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:52941430G>T	ENST00000332323.6	+	4	817	c.756G>T	c.(754-756)gaG>gaT	p.E252D	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E239D	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E252D(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAGAAGCCTTACA	0.358																																					p.E252D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G756T	19						.						55.0	50.0	52.0					19																	52941430		1568	3582	5150	57633242	SO:0001583	missense	147658	exon4			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.756G>T	19.37:g.52941430G>T	ENSP00000327538:p.Glu252Asp		57633242	NM_001143939	Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	G	5.337	0.247580	0.10130	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.26810	1.71;1.71	1.81	0.705	0.18127	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	M	0.69823	2.125	0.80722	D	1	D;P	0.63880	0.993;0.95	P;D	0.68765	0.878;0.96	T	0.22871	-1.0204	9	0.62326	D	0.03	.	5.4475	0.16544	0.3348:0.0:0.6652:0.0	.	239;252	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	D	252;239;251	ENSP00000327538:E252D;ENSP00000391358:E239D	ENSP00000327538:E252D	E	+	3	2	ZNF534	57633242	0.927000	0.31430	0.567000	0.28434	0.079000	0.17450	0.330000	0.19715	0.085000	0.17107	0.460000	0.39030	GAG		0.358	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
ZNF578	147660	broad.mit.edu	37	19	53014722	53014722	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53014722G>T	ENST00000421239.2	+	6	1332	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R363I(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGCCATCGTAGACTTCATACT	0.393																																					p.R363I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088T	19						.						107.0	112.0	110.0					19																	53014722		2203	4299	6502	57706534	SO:0001583	missense	147660	exon6			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1088G>T	19.37:g.53014722G>T	ENSP00000459216:p.Arg363Ile		57706534	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	7.227	0.598540	0.13939	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	0.322	0.15888	.	.	.	.	.	T	0.43010	0.1228	L	0.42632	1.34	0.09310	N	0.99999	D	0.76494	0.999	D	0.81914	0.995	T	0.21690	-1.0238	7	.	.	.	.	2.7717	0.05336	0.3481:0.2501:0.4018:0.0	.	363	G3V4F6	.	I	363	.	.	R	+	2	0	ZNF578	57706534	0.000000	0.05858	0.005000	0.12908	0.083000	0.17756	-0.725000	0.04942	-0.002000	0.14469	0.297000	0.19635	AGA		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF701	55762	broad.mit.edu	37	19	53086657	53086657	+	Nonsense_Mutation	SNP	C	C	T	rs370144367		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53086657C>T	ENST00000540331.1	+	5	1768	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	ZNF701_ENST00000391785.3_Nonsense_Mutation_p.R449*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Nonsense_Mutation_p.R515*	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	515					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.R449*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GGTTTTTAATCGAAAATCAAA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22676	0.0		0.0	False		,,,				2504	0.0				p.R449X	NSCLC(89;451 1475 9611 20673 52284)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1345T	19						.	C	stop/ARG,stop/ARG	0,4396		0,0,2198	41.0	41.0	41.0		1543,1345	0.6	0.0	19		41	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained,stop-gained	ZNF701	NM_001172655.1,NM_018260.2	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	515/532,449/466	53086657	1,12987	2198	4296	6494	57778469	SO:0001587	stop_gained	55762	exon4			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1543C>T	19.37:g.53086657C>T	ENSP00000444339:p.Arg515*		57778469	NM_018260	A2RRM8|B9EGF2|F5GZM6|Q66K42	Nonsense_Mutation	SNP	ENST00000540331.1	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500805	0.85176	0.0	1.16E-4	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	.	.	.	1.81	0.618	0.17624	.	.	.	.	.	.	.	.	.	.	.	0.23834	N	0.996711	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.7109	0.34382	0.0:0.7615:0.2385:0.0	.	.	.	.	X	449;515;515	.	ENSP00000301093:R515X	R	+	1	2	ZNF701	57778469	.	.	0.000000	0.03702	0.027000	0.11550	.	.	0.072000	0.16694	0.306000	0.20318	CGA		0.358	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
ZNF83	55769	broad.mit.edu	37	19	53116556	53116556	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53116556C>A	ENST00000597597.1	-	2	3515	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	ZNF83_ENST00000545872.1_Missense_Mutation_p.R421I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.R421I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Missense_Mutation_p.R393I|ZNF83_ENST00000536937.1_Missense_Mutation_p.R421I|ZNF83_ENST00000544146.1_Missense_Mutation_p.R421I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000541777.2_Missense_Mutation_p.R421I			P51522	ZNF83_HUMAN	zinc finger protein 83	421					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.R421I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AGTATGAATTCTCCAATGATA	0.383																																					p.R421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262T	19						.						83.0	85.0	85.0					19																	53116556		2203	4300	6503	57808368	SO:0001583	missense	55769	exon4			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1262G>T	19.37:g.53116556C>A	ENSP00000472619:p.Arg421Ile		57808368	NM_001105552	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	-	13.61	2.288823	0.40494	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	2.2	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23492	0.0568	M	0.66506	2.035	0.09310	N	1	B;P	0.41643	0.24;0.758	B;B	0.39299	0.044;0.296	T	0.21759	-1.0236	9	0.59425	D	0.04	.	6.0377	0.19716	0.4773:0.3642:0.1584:0.0	.	393;421	P51522-2;P51522	.;ZNF83_HUMAN	I	421;421;421;393;421;421;393	ENSP00000445993:R421I;ENSP00000301096:R421I;ENSP00000445470:R421I;ENSP00000440713:R421I;ENSP00000439681:R421I;ENSP00000375666:R393I	ENSP00000301096:R421I	R	-	2	0	ZNF83	57808368	0.000000	0.05858	0.003000	0.11579	0.050000	0.14768	-1.811000	0.01728	-0.173000	0.10761	0.411000	0.27672	AGA		0.383	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300	
ZNF611	81856	broad.mit.edu	37	19	53208757	53208757	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53208757C>A	ENST00000319783.1	-	7	1867	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	ZNF611_ENST00000602162.1_Missense_Mutation_p.K448N|ZNF611_ENST00000595798.1_Missense_Mutation_p.K448N|ZNF611_ENST00000453741.2_Missense_Mutation_p.K448N|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000540744.1_Missense_Mutation_p.K517N|ZNF611_ENST00000543227.1_Missense_Mutation_p.K517N	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	517					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.K517N(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GACTGAAAACCTTTTCACATT	0.368																																					p.K448N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1344T	19						.						119.0	118.0	119.0					19																	53208757		2203	4300	6503	57900569	SO:0001583	missense	81856	exon5			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1551G>T	19.37:g.53208757C>A	ENSP00000322427:p.Lys517Asn		57900569	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.83	1.459811	0.26248	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.27890	1.64;1.64;3.15;1.64	1.51	-3.03	0.05429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41396	0.1157	M	0.91140	3.18	0.09310	N	1	B	0.29136	0.234	B	0.34931	0.192	T	0.50800	-0.8785	9	0.87932	D	0	.	7.7886	0.29106	0.0:0.5875:0.0:0.4125	.	517	Q8N823	ZN611_HUMAN	N	517;517;448;517	ENSP00000437616:K517N;ENSP00000439211:K517N;ENSP00000443505:K448N;ENSP00000322427:K517N	ENSP00000322427:K517N	K	-	3	2	ZNF611	57900569	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.242000	0.01195	-0.821000	0.04312	-1.021000	0.02439	AAG		0.368	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF600	162966	broad.mit.edu	37	19	53270941	53270941	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53270941C>T	ENST00000338230.3	-	3	335	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	23					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.R23K(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACTTTGATATCTTTGCAATGT	0.368																																					p.R23K	Esophageal Squamous(196;1235 2112 2375 33339 34207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	19						.						159.0	165.0	163.0					19																	53270941		2203	4300	6503	57962753	SO:0001583	missense	162966	exon3			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.68G>A	19.37:g.53270941C>T	ENSP00000344791:p.Arg23Lys		57962753	NM_198457	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	10.25	1.298515	0.23650	.	.	ENSG00000189190	ENST00000338230	T	0.09723	2.95	1.01	1.01	0.19927	.	.	.	.	.	T	0.16769	0.0403	M	0.64997	1.995	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.18366	-1.0339	9	0.14656	T	0.56	.	5.0146	0.14330	0.0:0.6129:0.387:0.0	.	23	Q6ZNG1	ZN600_HUMAN	K	23	ENSP00000344791:R23K	ENSP00000344791:R23K	R	-	2	0	ZNF600	57962753	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	0.038000	0.13862	0.877000	0.35895	0.298000	0.19748	AGA		0.368	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457	
ZNF28	7576	broad.mit.edu	37	19	53303229	53303229	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53303229T>G	ENST00000457749.2	-	4	1988	c.1869A>C	c.(1867-1869)atA>atC	p.I623I	ZNF28_ENST00000360272.4_Silent_p.I570I|ZNF28_ENST00000438150.2_Silent_p.I570I|ZNF28_ENST00000414252.2_Silent_p.I570I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I570I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TACGATGGATTATAAGCGATG	0.453																																					p.I623I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1869C	19						.						231.0	206.0	214.0					19																	53303229		2203	4300	6503	57995041	SO:0001819	synonymous_variant	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1869A>C	19.37:g.53303229T>G			57995041	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	CCDS33093.2																																																																																				0.453	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF320	162967	broad.mit.edu	37	19	53384249	53384249	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53384249C>A	ENST00000595635.1	-	8	1631	c.1130G>T	c.(1129-1131)aGa>aTa	p.R377I	ZNF320_ENST00000391781.2_Missense_Mutation_p.R377I|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R377I(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AGTATGAACTCTCTGATGTTC	0.413																																					p.R377I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1130T	19						.						120.0	114.0	116.0					19																	53384249		2203	4300	6503	58076061	SO:0001583	missense	162967	exon4			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1130G>T	19.37:g.53384249C>A	ENSP00000473091:p.Arg377Ile		58076061	NM_207333	Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	9.910	1.209322	0.22205	.	.	ENSG00000182986	ENST00000391781	T	0.24908	1.83	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47097	0.1427	M	0.80508	2.5	0.09310	N	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.16748	-1.0392	9	0.51188	T	0.08	.	7.9287	0.29889	0.0:0.7417:0.2583:0.0	.	377	A2RRD8	ZN320_HUMAN	I	377	ENSP00000375660:R377I	ENSP00000375660:R377I	R	-	2	0	ZNF320	58076061	0.000000	0.05858	0.044000	0.18714	0.497000	0.33675	-0.662000	0.05305	0.960000	0.38005	0.194000	0.17425	AGA		0.413	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333	
ZNF816	125893	broad.mit.edu	37	19	53453316	53453316	+	Missense_Mutation	SNP	G	G	A	rs376324036		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53453316G>A	ENST00000357666.4	-	5	2012	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.A571V	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	571					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.A571V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AAAAACCTTCGCACATTTATT	0.378																																					p.A571V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1712T	19						.	C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405		0,1,2202	69.0	70.0	70.0		1712,1712,1712,	1.8	0.2	19		70	0,8600		0,0,4300	no	missense,missense,missense,intron	ZNF816,ZNF816-ZNF321P	NM_001031665.2,NM_001202456.1,NM_001202457.1,NM_001202473.1	64,64,64,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,	571/652,571/652,571/652,	53453316	1,13005	2203	4300	6503	58145128	SO:0001583	missense	125893	exon5			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1712C>T	19.37:g.53453316G>A	ENSP00000350295:p.Ala571Val		58145128	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	14.25	2.479424	0.44044	2.27E-4	0.0	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.07908	3.15;3.15	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	N	0.25992	0.78	0.80722	D	1	B	0.20887	0.049	B	0.25506	0.061	T	0.26643	-1.0097	9	0.87932	D	0	.	7.368	0.26785	0.0:0.7243:0.2757:0.0	.	571	Q0VGE8	ZN816_HUMAN	V	571	ENSP00000350295:A571V;ENSP00000403266:A571V	ENSP00000350295:A571V	A	-	2	0	ZNF816	58145128	0.000000	0.05858	0.164000	0.22755	0.285000	0.27093	-0.144000	0.10280	0.088000	0.17205	-0.980000	0.02579	GCG		0.378	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF816	125893	broad.mit.edu	37	19	53453856	53453856	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53453856T>C	ENST00000357666.4	-	5	1472	c.1172A>G	c.(1171-1173)cAc>cGc	p.H391R	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H391R	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	391					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.H391R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTCTCCAGTGTGAAGTATATG	0.393																																					p.H391R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1172G	19						.						140.0	140.0	140.0					19																	53453856		2203	4300	6503	58145668	SO:0001583	missense	125893	exon5			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1172A>G	19.37:g.53453856T>C	ENSP00000350295:p.His391Arg		58145668	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	15.04	2.714618	0.48622	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.67523	-0.27;-0.27	1.85	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82806	0.5117	M	0.92317	3.295	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.83295	-0.0031	9	0.87932	D	0	.	8.4536	0.32886	0.0:0.0:0.0:1.0	.	391	Q0VGE8	ZN816_HUMAN	R	391	ENSP00000350295:H391R;ENSP00000403266:H391R	ENSP00000350295:H391R	H	-	2	0	ZNF816	58145668	1.000000	0.71417	0.122000	0.21767	0.021000	0.10359	4.274000	0.58921	0.833000	0.34828	0.260000	0.18958	CAC		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF160	90338	broad.mit.edu	37	19	53572255	53572255	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53572255C>A	ENST00000429604.1	-	7	1947	c.1532G>T	c.(1531-1533)tGt>tTt	p.C511F	ZNF160_ENST00000601421.1_Missense_Mutation_p.C475F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C511F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C511F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	511					hemopoiesis (GO:0030097)|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.C511F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTCATTACACTTGTAAGG	0.393																																					p.C511F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1532T	19						.						102.0	103.0	102.0					19																	53572255		2203	4300	6503	58264067	SO:0001583	missense	90338	exon7			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1532G>T	19.37:g.53572255C>A	ENSP00000406201:p.Cys511Phe		58264067	NM_198893	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283981	0.40394	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	D;D	0.85088	-1.94;-1.94	2.47	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93687	0.7983	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.94644	0.7833	9	0.87932	D	0	.	12.0276	0.53380	0.0:1.0:0.0:0.0	.	511	Q9HCG1	ZN160_HUMAN	F	511	ENSP00000406201:C511F;ENSP00000409597:C511F	ENSP00000409597:C511F	C	-	2	0	ZNF160	58264067	0.996000	0.38824	0.062000	0.19696	0.388000	0.30384	4.710000	0.61873	1.361000	0.45981	0.561000	0.74099	TGT		0.393	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF160	90338	broad.mit.edu	37	19	53572687	53572687	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53572687T>C	ENST00000429604.1	-	7	1515	c.1100A>G	c.(1099-1101)aAa>aGa	p.K367R	ZNF160_ENST00000601421.1_Missense_Mutation_p.K331R|ZNF160_ENST00000418871.1_Missense_Mutation_p.K367R|ZNF160_ENST00000599056.1_Missense_Mutation_p.K367R	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	367					hemopoiesis (GO:0030097)|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.K367R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGAACGGTTTTTCTCCAGT	0.373																																					p.K367R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1100G	19						.						83.0	84.0	84.0					19																	53572687		2203	4300	6503	58264499	SO:0001583	missense	90338	exon7			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1100A>G	19.37:g.53572687T>C	ENSP00000406201:p.Lys367Arg		58264499	NM_198893	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852319	0.32699	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.24908	1.83;1.83	2.47	2.47	0.30058	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27063	0.0663	N	0.10685	0.025	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.11743	-1.0575	9	0.54805	T	0.06	.	9.5616	0.39373	0.0:0.0:0.0:1.0	.	367	Q9HCG1	ZN160_HUMAN	R	367	ENSP00000406201:K367R;ENSP00000409597:K367R	ENSP00000409597:K367R	K	-	2	0	ZNF160	58264499	0.002000	0.14202	0.094000	0.20943	0.083000	0.17756	0.178000	0.16820	1.118000	0.41863	0.459000	0.35465	AAA		0.373	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF160	90338	broad.mit.edu	37	19	53572790	53572790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53572790G>A	ENST00000429604.1	-	7	1412	c.997C>T	c.(997-999)Cga>Tga	p.R333*	ZNF160_ENST00000601421.1_Nonsense_Mutation_p.R297*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R333*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R333*	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	333					hemopoiesis (GO:0030097)|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.R333*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTATGAATTCGCCGATGAGTT	0.403																																					p.R333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C997T	19						.						95.0	93.0	93.0					19																	53572790		2203	4300	6503	58264602	SO:0001587	stop_gained	90338	exon7			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.997C>T	19.37:g.53572790G>A	ENSP00000406201:p.Arg333*		58264602	NM_198893	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Nonsense_Mutation	SNP	ENST00000429604.1	37	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180302	0.78677	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	.	.	.	2.47	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2225	0.10565	0.0:0.139:0.4709:0.3901	.	.	.	.	X	333	.	ENSP00000409597:R333X	R	-	1	2	ZNF160	58264602	0.000000	0.05858	0.006000	0.13384	0.264000	0.26372	-0.192000	0.09587	0.193000	0.20303	-0.397000	0.06425	CGA		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF415	55786	broad.mit.edu	37	19	53612174	53612174	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53612174T>G	ENST00000500065.4	-	4	1457	c.1124A>C	c.(1123-1125)cAg>cCg	p.Q375P	ZNF415_ENST00000440291.1_Missense_Mutation_p.Q362P|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.Q387P|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.Q375P|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.Q423P|ZNF415_ENST00000448501.1_Missense_Mutation_p.Q423P|ZNF415_ENST00000601493.1_Missense_Mutation_p.Q145P	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q375P(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAATTCTCTGATGAGTTGC	0.418																																					p.Q375P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1124C	19						.						64.0	59.0	61.0					19																	53612174		2203	4300	6503	58303986	SO:0001583	missense	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1124A>C	19.37:g.53612174T>G	ENSP00000439435:p.Gln375Pro		58303986	NM_001136038	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606858	0.28623	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	2.67	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	L	0.42581	1.335	0.09310	N	1	D;D;D;D;D;D	0.67145	0.99;0.996;0.991;0.995;0.99;0.984	P;D;P;D;P;P	0.68765	0.544;0.96;0.79;0.913;0.638;0.787	T	0.11891	-1.0569	9	0.72032	D	0.01	.	5.4893	0.16767	0.0:0.4494:0.1693:0.3813	.	375;423;423;375;362;387	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	P	375;375;423;387;423;362	ENSP00000243643:Q375P;ENSP00000439435:Q375P;ENSP00000396492:Q423P;ENSP00000395055:Q387P;ENSP00000388787:Q423P;ENSP00000414601:Q362P	ENSP00000243643:Q375P	Q	-	2	0	ZNF415	58303986	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.425000	0.02446	-0.871000	0.04042	0.397000	0.26171	CAG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF415	55786	broad.mit.edu	37	19	53612426	53612426	+	Missense_Mutation	SNP	C	C	A	rs138480197	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53612426C>A	ENST00000500065.4	-	4	1205	c.872G>T	c.(871-873)cGg>cTg	p.R291L	ZNF415_ENST00000440291.1_Missense_Mutation_p.R278L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303L|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291L|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.R339L|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339L|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61L	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R291L(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418																																					p.R291L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872T	19						.						101.0	89.0	93.0					19																	53612426		2203	4300	6503	58304238	SO:0001583	missense	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.872G>T	19.37:g.53612426C>A	ENSP00000439435:p.Arg291Leu		58304238	NM_001136038	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808715	0.31961	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51	2.78	-5.55	0.02536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	N	0.13327	0.33	0.09310	N	1	B;P;B;P;B;B	0.43412	0.0;0.806;0.0;0.626;0.0;0.159	B;P;B;B;B;B	0.53649	0.001;0.731;0.001;0.28;0.001;0.076	T	0.20472	-1.0274	9	0.66056	D	0.02	.	4.0911	0.09970	0.2495:0.3289:0.0:0.4217	.	291;339;339;291;278;303	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	L	291;291;339;303;339;278	ENSP00000243643:R291L;ENSP00000439435:R291L;ENSP00000396492:R339L;ENSP00000395055:R303L;ENSP00000388787:R339L;ENSP00000414601:R278L	ENSP00000243643:R291L	R	-	2	0	ZNF415	58304238	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.175000	0.03102	-2.022000	0.00938	-0.332000	0.08345	CGG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF415	55786	broad.mit.edu	37	19	53612635	53612635	+	Silent	SNP	G	G	A	rs375385270		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53612635G>A	ENST00000500065.4	-	4	996	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ZNF415_ENST00000440291.1_Silent_p.C208C|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.C233C|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.C221C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.C269C|ZNF415_ENST00000448501.1_Silent_p.C269C|ZNF415_ENST00000601493.1_5'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C221C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGGCTTTGTCGCACTCAATAT	0.378																																					p.C221C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663T	19						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	154.0	123.0	134.0		663,663,663	-2.7	0.0	19		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	221/556,221/556,221/556	53612635	1,13005	2203	4300	6503	58304447	SO:0001819	synonymous_variant	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.663C>T	19.37:g.53612635G>A			58304447	NM_001136038	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	CCDS54313.1																																																																																				0.378	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF347	84671	broad.mit.edu	37	19	53643837	53643837	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53643837C>A	ENST00000334197.7	-	5	2312	c.2244G>T	c.(2242-2244)caG>caT	p.Q748H	ZNF347_ENST00000601469.2_Missense_Mutation_p.Q749H|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.Q749H	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	748					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.Q748H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGTGTGAATTCTGAGTGAAGA	0.423																																					p.Q749H	Melanoma(64;205 1597 17324 45721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2247T	19						.						170.0	159.0	163.0					19																	53643837		2203	4300	6503	58335649	SO:0001583	missense	84671	exon5			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2244G>T	19.37:g.53643837C>A	ENSP00000334146:p.Gln748His		58335649	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	3.266	-0.150157	0.06585	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07327	3.2;3.2	2.56	-3.11	0.05299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.04705	-0.18	0.09310	N	1	P;B	0.36753	0.568;0.001	B;B	0.34991	0.193;0.002	T	0.41142	-0.9525	9	0.13853	T	0.58	.	3.148	0.06478	0.1594:0.5095:0.1607:0.1703	.	749;748	G5E9N4;Q96SE7	.;ZN347_HUMAN	H	748;749	ENSP00000334146:Q748H;ENSP00000405218:Q749H	ENSP00000334146:Q748H	Q	-	3	2	ZNF347	58335649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.779000	0.00030	-0.635000	0.05531	-0.302000	0.09304	CAG		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF347	84671	broad.mit.edu	37	19	53644385	53644385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53644385C>A	ENST00000334197.7	-	5	1764	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	ZNF347_ENST00000601469.2_Nonsense_Mutation_p.E567*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Nonsense_Mutation_p.E567*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	566					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.E566*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAGGTTTTTCTCCAGTATGG	0.413																																					p.E567X	Melanoma(64;205 1597 17324 45721)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1699T	19						.						156.0	149.0	151.0					19																	53644385		2203	4300	6503	58336197	SO:0001587	stop_gained	84671	exon5			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1696G>T	19.37:g.53644385C>A	ENSP00000334146:p.Glu566*		58336197	NM_001172675	B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	37	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	37	6.041210	0.97226	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	.	.	.	3.01	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.4511	0.21903	0.0:0.7591:0.0:0.2409	.	.	.	.	X	566;567	.	ENSP00000334146:E566X	E	-	1	0	ZNF347	58336197	0.124000	0.22315	0.875000	0.34327	0.762000	0.43233	1.361000	0.34136	0.606000	0.29965	0.655000	0.94253	GAA		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584	
ZNF665	79788	broad.mit.edu	37	19	53667893	53667893	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53667893C>A	ENST00000600412.1	-	2	1770	c.1655G>T	c.(1654-1656)aGa>aTa	p.R552I	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.R617I			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R552I(1)|p.R617I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTGAATTCTTCTATGATTTGC	0.408																																					p.R617I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1850T	19						.						104.0	110.0	108.0					19																	53667893		2203	4300	6503	58359705	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1655G>T	19.37:g.53667893C>A	ENSP00000469154:p.Arg552Ile		58359705	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	12.22	1.873693	0.33069	.	.	ENSG00000197497	ENST00000396424	T	0.15603	2.41	2.55	0.276	0.15663	.	.	.	.	.	T	0.12603	0.0306	N	0.16266	0.395	0.09310	N	1	P	0.47604	0.898	P	0.49799	0.622	T	0.14420	-1.0473	9	0.56958	D	0.05	.	2.6622	0.05030	0.1981:0.2562:0.0:0.5457	.	617	Q9H7R5-2	.	I	617	ENSP00000379702:R617I	ENSP00000379702:R617I	R	-	2	0	ZNF665	58359705	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.308000	0.01131	-0.124000	0.11724	-0.484000	0.04775	AGA		0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF665	79788	broad.mit.edu	37	19	53668389	53668389	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53668389G>A	ENST00000600412.1	-	2	1274	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.H452Y			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	387					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.H387Y(1)|p.H452Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTCCAGTATGAATTGCCTGA	0.428																																					p.H452Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1354T	19						.						79.0	82.0	81.0					19																	53668389		2203	4300	6503	58360201	SO:0001583	missense	79788	exon4				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1159C>T	19.37:g.53668389G>A	ENSP00000469154:p.His387Tyr		58360201	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	G	14.44	2.535588	0.45176	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.55	1.46	0.22682	.	.	.	.	.	D	0.85044	0.5607	H	0.95645	3.7	0.22996	N	0.998456	D	0.89917	1.0	D	0.91635	0.999	T	0.73579	-0.3938	9	0.87932	D	0	.	9.6412	0.39839	0.0:0.0:0.7901:0.2098	.	452	Q9H7R5-2	.	Y	452	ENSP00000379702:H452Y	ENSP00000379702:H452Y	H	-	1	0	ZNF665	58360201	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	4.319000	0.59197	0.382000	0.24878	0.543000	0.68304	CAT		0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF665	79788	broad.mit.edu	37	19	53678753	53678753	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53678753C>A	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.Q29H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						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.Q29H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACAAAGTCTTCTGAGCAGGGT	0.458																																					p.Q29H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G87T	19						.						133.0	137.0	136.0					19																	53678753		2203	4300	6503	58370565	SO:0001627	intron_variant	79788	exon3				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9153G>T	19.37:g.53678753C>A			58370565	NM_024733	A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	12.38	1.922002	0.33908	.	.	ENSG00000197497	ENST00000396424	T	0.09445	2.98	2.67	2.67	0.31697	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.24361	N	0.994877	D	0.76494	0.999	D	0.69479	0.964	T	0.02560	-1.1141	8	0.87932	D	0	.	11.0727	0.48012	0.0:1.0:0.0:0.0	.	29	Q9H7R5-2	.	H	29	ENSP00000379702:Q29H	ENSP00000379702:Q29H	Q	-	3	2	ZNF665	58370565	0.948000	0.32251	0.912000	0.35992	0.171000	0.22731	1.878000	0.39608	1.479000	0.48272	0.655000	0.94253	CAG		0.458	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733	
ZNF677	342926	broad.mit.edu	37	19	53740628	53740628	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53740628C>A	ENST00000598513.1	-	5	1502	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	ZNF677_ENST00000333952.4_Missense_Mutation_p.R451I	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	451					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.R451I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGTGAATTCTCTGATGTTC	0.393																																					p.R451I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1352T	19						.						51.0	49.0	50.0					19																	53740628		2203	4300	6503	58432440	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1352G>T	19.37:g.53740628C>A	ENSP00000469391:p.Arg451Ile		58432440	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.640997	0.29157	.	.	ENSG00000197928	ENST00000333952	T	0.24908	1.83	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001728	T	0.39733	0.1089	M	0.67517	2.055	0.40570	D	0.981294	D	0.71674	0.998	D	0.64237	0.923	T	0.26467	-1.0102	10	0.49607	T	0.09	.	6.8865	0.24206	0.0:0.7088:0.2912:0.0	.	451	Q86XU0	ZN677_HUMAN	I	451	ENSP00000334394:R451I	ENSP00000334394:R451I	R	-	2	0	ZNF677	58432440	0.000000	0.05858	0.996000	0.52242	0.992000	0.81027	0.843000	0.27640	1.559000	0.49555	0.655000	0.94253	AGA		0.393	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
VN1R2	317701	broad.mit.edu	37	19	53762697	53762697	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53762697G>A	ENST00000341702.3	+	1	1153	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	357					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.A357T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACTAATCATTGCCTGTTTTCC	0.443																																					p.A357T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	19						.						232.0	211.0	218.0					19																	53762697		2203	4300	6503	58454509	SO:0001583	missense	317701	exon1			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1069G>A	19.37:g.53762697G>A	ENSP00000351244:p.Ala357Thr		58454509	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842979	0.32606	.	.	ENSG00000196131	ENST00000341702	T	0.09445	2.98	2.94	-2.78	0.05859	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09423	0.0232	L	0.43757	1.38	0.09310	N	1	P	0.38250	0.624	B	0.39465	0.3	T	0.27739	-1.0065	9	0.45353	T	0.12	.	7.0517	0.25077	0.0:0.1546:0.3723:0.4731	.	357	Q8NFZ6	VN1R2_HUMAN	T	357	ENSP00000351244:A357T	ENSP00000351244:A357T	A	+	1	0	VN1R2	58454509	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.112000	0.15479	-0.371000	0.08004	0.596000	0.82720	GCC		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
VN1R4	317703	broad.mit.edu	37	19	53770175	53770175	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53770175G>T	ENST00000311170.4	-	1	797	c.744C>A	c.(742-744)ctC>ctA	p.L248L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	248					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L248L(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AAAGGCAGGAGAGAGTGTAAG	0.473										HNSCC(26;0.072)																											p.L248L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744A	19						.						51.0	45.0	47.0					19																	53770175		2203	4300	6503	58461987	SO:0001819	synonymous_variant	317703	exon1			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.744C>A	19.37:g.53770175G>T			58461987	NM_173857	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.473	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
ZNF765	91661	broad.mit.edu	37	19	53911344	53911344	+	Missense_Mutation	SNP	G	G	T	rs377536824		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53911344G>T	ENST00000396408.3	+	4	653	c.536G>T	c.(535-537)aGa>aTa	p.R179I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R179I(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACAGCCCAAAGAATTTCTTGT	0.373																																					p.R179I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536T	19						.	G	ILE/ARG	0,4390		0,0,2195	76.0	78.0	77.0		536	-1.2	0.0	19		77	1,8589	1.2+/-3.3	0,1,4294	no	missense	ZNF765	NM_001040185.1	97	0,1,6489	TT,TG,GG		0.0116,0.0,0.0077	benign	179/524	53911344	1,12979	2195	4295	6490	58603156	SO:0001583	missense	91661	exon4			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.536G>T	19.37:g.53911344G>T	ENSP00000379689:p.Arg179Ile		58603156	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	2.004	-0.428715	0.04701	0.0	1.16E-4	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.08193	3.12;3.9	0.588	-1.18	0.09617	.	.	.	.	.	T	0.09423	0.0232	M	0.65677	2.01	0.09310	N	1	B	0.17852	0.024	B	0.26094	0.066	T	0.39272	-0.9622	7	.	.	.	.	.	.	.	.	179	Q7L2R6	ZN765_HUMAN	I	179;126	ENSP00000379689:R179I;ENSP00000421579:R126I	.	R	+	2	0	ZNF765	58603156	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.081000	0.14823	-0.427000	0.07350	0.174000	0.16983	AGA		0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372	
ZNF765	91661	broad.mit.edu	37	19	53911764	53911764	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53911764G>T	ENST00000396408.3	+	4	1073	c.956G>T	c.(955-957)aGa>aTa	p.R319I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	319					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.R319I(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATACATAGGAGAATTCATACT	0.403																																					p.R319I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956T	19						.						67.0	71.0	69.0					19																	53911764		2202	4298	6500	58603576	SO:0001583	missense	91661	exon4			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.956G>T	19.37:g.53911764G>T	ENSP00000379689:p.Arg319Ile		58603576	NM_001040185	A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	8.490	0.861704	0.17178	.	.	ENSG00000196417	ENST00000396408	T	0.02446	4.29	1.28	-0.0742	0.13731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	M	0.70903	2.155	0.09310	N	0.999999	B	0.15141	0.012	B	0.24974	0.057	T	0.38757	-0.9646	8	.	.	.	.	6.5117	0.22226	0.1841:0.0:0.8159:0.0	.	319	Q7L2R6	ZN765_HUMAN	I	319	ENSP00000379689:R319I	.	R	+	2	0	ZNF765	58603576	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.025000	0.12413	-0.193000	0.10415	0.289000	0.19496	AGA		0.403	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372	
ZNF761	388561	broad.mit.edu	37	19	53958429	53958429	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53958429C>T	ENST00000454407.1	+	0	1121							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A169V(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGTGGCAAAGCCTTTAATTAC	0.343																																					p.S223S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C669T	19						.						105.0	107.0	106.0					19																	53958429		2203	4300	6503	58650241			388561	exon6			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958429C>T			58650241	NM_001008401	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.343	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
ZNF813	126017	broad.mit.edu	37	19	53993651	53993651	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53993651G>T	ENST00000396403.4	+	4	293	c.165G>T	c.(163-165)atG>atT	p.M55I	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M55I(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATGCATGATGAAGGAGTTCT	0.383																																					p.M55I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G165T	19						.						81.0	85.0	84.0					19																	53993651		2181	4292	6473	58685463	SO:0001583	missense	126017	exon4			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.165G>T	19.37:g.53993651G>T	ENSP00000379684:p.Met55Ile		58685463	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385891	0.01194	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.13307	4.03;3.51;2.6	0.581	-1.16	0.09678	Krueppel-associated box (3);	.	.	.	.	T	0.03651	0.0104	N	0.00991	-1.07	0.09310	N	1	B	0.20671	0.047	B	0.23852	0.049	T	0.42344	-0.9457	8	0.27785	T	0.31	.	.	.	.	.	55	Q6ZN06	ZN813_HUMAN	I	2;55;86	ENSP00000419821:M2I;ENSP00000379684:M55I;ENSP00000418289:M86I	ENSP00000379684:M55I	M	+	3	0	ZNF813	58685463	0.006000	0.16342	0.003000	0.11579	0.297000	0.27493	-0.384000	0.07389	-0.422000	0.07405	0.134000	0.15878	ATG		0.383	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ZNF813	126017	broad.mit.edu	37	19	53994025	53994025	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53994025T>G	ENST00000396403.4	+	4	667	c.539T>G	c.(538-540)aTt>aGt	p.I180S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	180					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.I180S(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCCCAAAGAATTTCTTGTAGG	0.393																																					p.I180S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T539G	19						.						96.0	107.0	103.0					19																	53994025		2180	4291	6471	58685837	SO:0001583	missense	126017	exon4			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.539T>G	19.37:g.53994025T>G	ENSP00000379684:p.Ile180Ser		58685837	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	T	6.680	0.493995	0.12702	.	.	ENSG00000198346	ENST00000396403	T	0.05649	3.41	0.75	-1.07	0.09968	.	.	.	.	.	T	0.11067	0.0270	M	0.83774	2.66	0.09310	N	1	B	0.34290	0.447	B	0.38921	0.285	T	0.19063	-1.0317	8	0.66056	D	0.02	.	.	.	.	.	180	Q6ZN06	ZN813_HUMAN	S	180	ENSP00000379684:I180S	ENSP00000379684:I180S	I	+	2	0	ZNF813	58685837	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.109000	0.10840	-0.317000	0.08677	0.172000	0.16884	ATT		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ZNF813	126017	broad.mit.edu	37	19	53994221	53994221	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53994221T>G	ENST00000396403.4	+	4	863	c.735T>G	c.(733-735)tgT>tgG	p.C245W	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C245W(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATATAAATGTGATGTATGTG	0.388																																					p.C245W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T735G	19						.						74.0	77.0	76.0					19																	53994221		2198	4299	6497	58686033	SO:0001583	missense	126017	exon4			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.735T>G	19.37:g.53994221T>G	ENSP00000379684:p.Cys245Trp		58686033	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126479	0.37533	.	.	ENSG00000198346	ENST00000396403	D	0.85258	-1.96	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94748	0.8305	H	0.99130	4.44	0.23168	N	0.998186	D	0.89917	1.0	D	0.87578	0.998	D	0.85261	0.1050	9	0.87932	D	0	.	6.8716	0.24123	0.0:0.0:0.0:1.0	.	245	Q6ZN06	ZN813_HUMAN	W	245	ENSP00000379684:C245W	ENSP00000379684:C245W	C	+	3	2	ZNF813	58686033	0.010000	0.17322	0.300000	0.25030	0.310000	0.27922	-0.141000	0.10327	0.175000	0.19841	0.172000	0.16884	TGT		0.388	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ZNF813	126017	broad.mit.edu	37	19	53995298	53995298	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:53995298G>T	ENST00000396403.4	+	4	1940	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	604					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.E604D(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATACTGGAGAGAAACCTTACA	0.363																																					p.E604D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1812T	19						.						34.0	36.0	35.0					19																	53995298		2188	4289	6477	58687110	SO:0001583	missense	126017	exon4			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1812G>T	19.37:g.53995298G>T	ENSP00000379684:p.Glu604Asp		58687110	NM_001004301		Missense_Mutation	SNP	ENST00000396403.4	37	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.245986	0.22796	.	.	ENSG00000198346	ENST00000396403	T	0.26810	1.71	1.28	-0.0579	0.13799	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23846	0.0577	M	0.64630	1.985	0.80722	D	1	B	0.10296	0.003	B	0.19946	0.027	T	0.14504	-1.0470	9	0.72032	D	0.01	.	6.6473	0.22943	0.1887:0.0:0.8113:0.0	.	604	Q6ZN06	ZN813_HUMAN	D	604	ENSP00000379684:E604D	ENSP00000379684:E604D	E	+	3	2	ZNF813	58687110	0.015000	0.18098	0.018000	0.16275	0.186000	0.23388	0.093000	0.15086	0.455000	0.26910	0.187000	0.17357	GAG		0.363	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301	
ZNF331	55422	broad.mit.edu	37	19	54079953	54079953	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54079953T>C	ENST00000253144.9	+	7	1472	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	ZNF331_ENST00000512387.1_Silent_p.L47L|ZNF331_ENST00000511593.2_Silent_p.L47L|ZNF331_ENST00000511154.1_Silent_p.L47L|ZNF331_ENST00000411977.2_Silent_p.L47L|ZNF331_ENST00000449416.1_Silent_p.L47L|ZNF331_ENST00000513999.1_Silent_p.L47L|ZNF331_ENST00000513265.1_Silent_p.L47L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L47L(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTTCCCAGATTTGGAGTCAGC	0.323			T	?	follicular thyroid adenoma																																p.L47L			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T139C	19						.						37.0	41.0	40.0					19																	54079953		2202	4300	6502	58771765	SO:0001819	synonymous_variant	55422	exon6			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.139T>C	19.37:g.54079953T>C			58771765	NM_001079906	Q96GJ4	Silent	SNP	ENST00000253144.9	37	CCDS33102.1																																																																																				0.323	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	
ZNF331	55422	broad.mit.edu	37	19	54081178	54081178	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54081178G>A	ENST00000253144.9	+	7	2697	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	ZNF331_ENST00000512387.1_Missense_Mutation_p.R455Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R455Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R455Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.R455Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R455Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.R455Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R455Q(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AACCATCTCCGAGAACATCAG	0.493			T	?	follicular thyroid adenoma																																p.R455Q			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1364A	19						.						56.0	50.0	52.0					19																	54081178		2203	4300	6503	58772990	SO:0001583	missense	55422	exon6			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1364G>A	19.37:g.54081178G>A	ENSP00000253144:p.Arg455Gln		58772990	NM_001079906	Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194836	0.38806	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	3.58	-5.19	0.02832	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.170740	0.06762	N	0.782032	T	0.19327	0.0464	L	0.35542	1.07	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.39542	-0.9609	10	0.66056	D	0.02	.	5.3595	0.16079	0.3089:0.449:0.2422:0.0	.	455	Q9NQX6	ZN331_HUMAN	Q	455	ENSP00000253144:R455Q;ENSP00000427439:R455Q;ENSP00000393817:R455Q;ENSP00000393336:R455Q;ENSP00000421014:R455Q;ENSP00000423156:R455Q;ENSP00000421728:R455Q	ENSP00000253144:R455Q	R	+	2	0	ZNF331	58772990	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.559000	0.02162	-0.596000	0.05821	0.655000	0.94253	CGA		0.493	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555	
NLRP12	91662	broad.mit.edu	37	19	54297342	54297342	+	Silent	SNP	C	C	T	rs148506660		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54297342C>T	ENST00000324134.6	-	10	3315	c.3147G>A	c.(3145-3147)gcG>gcA	p.A1049A	NLRP12_ENST00000391773.1_Silent_p.A1050A|NLRP12_ENST00000351894.4_Silent_p.A937A|NLRP12_ENST00000391772.1_Silent_p.A880A|NLRP12_ENST00000345770.5_Silent_p.A994A|NLRP12_ENST00000354278.3_Silent_p.A880A|NLRP12_ENST00000535162.1_Silent_p.A992A|NLRP12_ENST00000391775.3_Silent_p.A992A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1049					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A1049A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTACTCGAAGCGCTGCCAACC	0.463																																					p.A1049A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3147A	19						.	C	,	0,4406		0,0,2203	176.0	140.0	152.0		825,3147	-8.9	0.0	19	dbSNP_134	152	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous,coding-synonymous	NLRP12	NM_033297.2,NM_144687.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	275/288,1049/1062	54297342	1,13005	2203	4300	6503	58989154	SO:0001819	synonymous_variant	91662	exon10			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3147G>A	19.37:g.54297342C>T			58989154	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.463	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54310827	54310827	+	Missense_Mutation	SNP	C	C	T	rs199475868	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54310827C>T	ENST00000324134.6	-	4	2333	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	NLRP12_ENST00000391773.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000351894.4_Missense_Mutation_p.R722Q|NLRP12_ENST00000391772.1_Missense_Mutation_p.R723Q|NLRP12_ENST00000345770.5_Missense_Mutation_p.R723Q|NLRP12_ENST00000354278.3_Missense_Mutation_p.R722Q|NLRP12_ENST00000535162.1_Missense_Mutation_p.R722Q|NLRP12_ENST00000391775.3_Missense_Mutation_p.R722Q	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	722					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R722Q(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGGCATTTCGGTACAGAGA	0.582													C|||	4	0.000798722	0.0	0.0	5008	,	,		16994	0.002		0.0	False		,,,				2504	0.002				p.R722Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2165A	19						.						81.0	72.0	75.0					19																	54310827		2203	4300	6503	59002639	SO:0001583	missense	91662	exon4			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2165G>A	19.37:g.54310827C>T	ENSP00000319377:p.Arg722Gln		59002639	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.866	0.948186	0.18356	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	3.86	-2.13	0.07144	.	0.000000	0.35349	U	0.003273	T	0.81269	0.4787	N	0.25992	0.78	0.09310	N	0.999998	D;D;D;P	0.67145	0.996;0.973;0.996;0.913	P;P;P;P	0.58970	0.787;0.768;0.849;0.753	T	0.74850	-0.3524	10	0.11182	T	0.66	.	7.2272	0.26022	0.0:0.4228:0.0:0.5772	.	723;722;722;722	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Q	722;722;722;722;722;723;723;723	ENSP00000319377:R722Q;ENSP00000438030:R722Q;ENSP00000340473:R722Q;ENSP00000346231:R722Q;ENSP00000375655:R722Q;ENSP00000375653:R723Q;ENSP00000375652:R723Q	ENSP00000319377:R722Q	R	-	2	0	NLRP12	59002639	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-1.645000	0.02000	-0.157000	0.11059	-0.300000	0.09419	CGA		0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54313811	54313811	+	Missense_Mutation	SNP	C	C	T	rs541068679		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54313811C>T	ENST00000324134.6	-	3	1270	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	NLRP12_ENST00000391773.1_Missense_Mutation_p.A368T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A368T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A368T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A368T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A368T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A368T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A368T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	368	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.A368T(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCTTTCTGCCTCAGAGAAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.001				p.A368T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	19						.						160.0	166.0	164.0					19																	54313811		2203	4300	6503	59005623	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1102G>A	19.37:g.54313811C>T	ENSP00000319377:p.Ala368Thr		59005623	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452618	0.26074	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.64	2.39	0.29439	NACHT nucleoside triphosphatase (1);	0.558998	0.14842	N	0.295206	T	0.81973	0.4936	L	0.49571	1.57	0.09310	N	1	D;D;D;D	0.76494	0.999;0.993;0.993;0.995	D;D;D;D	0.68039	0.947;0.934;0.934;0.955	T	0.67872	-0.5558	10	0.24483	T	0.36	.	4.8937	0.13740	0.0:0.6281:0.1777:0.1942	.	368;368;368;368	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	368	ENSP00000319377:A368T;ENSP00000438030:A368T;ENSP00000340473:A368T;ENSP00000346231:A368T;ENSP00000375655:A368T;ENSP00000375653:A368T;ENSP00000375652:A368T	ENSP00000319377:A368T	A	-	1	0	NLRP12	59005623	0.000000	0.05858	0.013000	0.15412	0.831000	0.47069	0.294000	0.19047	0.462000	0.27095	0.485000	0.47835	GCA		0.537	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54314328	54314328	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54314328C>A	ENST00000324134.6	-	3	753	c.585G>T	c.(583-585)aaG>aaT	p.K195N	NLRP12_ENST00000391773.1_Missense_Mutation_p.K195N|NLRP12_ENST00000351894.4_Missense_Mutation_p.K195N|NLRP12_ENST00000391772.1_Missense_Mutation_p.K195N|NLRP12_ENST00000345770.5_Missense_Mutation_p.K195N|NLRP12_ENST00000354278.3_Missense_Mutation_p.K195N|NLRP12_ENST00000535162.1_Missense_Mutation_p.K195N|NLRP12_ENST00000391775.3_Missense_Mutation_p.K195N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	195					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.K195N(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGTCTCTATCTTGATGGGGC	0.637																																					p.K195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G585T	19						.						104.0	83.0	90.0					19																	54314328		2203	4300	6503	59006140	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.585G>T	19.37:g.54314328C>A	ENSP00000319377:p.Lys195Asn		59006140	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	2.946	-0.217913	0.06101	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	4.25	-0.955	0.10356	.	0.942177	0.08709	N	0.905185	T	0.72495	0.3467	N	0.05124	-0.11	0.09310	N	1	B;B;B;B	0.27068	0.167;0.097;0.167;0.121	B;B;B;B	0.21360	0.034;0.023;0.034;0.032	T	0.58482	-0.7629	10	0.25106	T	0.35	.	6.4605	0.21954	0.0:0.3343:0.4718:0.1939	.	195;195;195;195	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	N	195	ENSP00000319377:K195N;ENSP00000438030:K195N;ENSP00000340473:K195N;ENSP00000346231:K195N;ENSP00000375655:K195N;ENSP00000375653:K195N;ENSP00000375652:K195N	ENSP00000319377:K195N	K	-	3	2	NLRP12	59006140	0.000000	0.05858	0.575000	0.28536	0.199000	0.23934	-0.802000	0.04545	-0.293000	0.08986	-1.225000	0.01585	AAG		0.637	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54327263	54327263	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54327263T>G	ENST00000324134.6	-	1	334	c.166A>C	c.(166-168)Atg>Ctg	p.M56L	NLRP12_ENST00000391773.1_Missense_Mutation_p.M56L|NLRP12_ENST00000351894.4_Missense_Mutation_p.M56L|NLRP12_ENST00000391772.1_Missense_Mutation_p.M56L|NLRP12_ENST00000345770.5_Missense_Mutation_p.M56L|NLRP12_ENST00000354278.3_Missense_Mutation_p.M56L|NLRP12_ENST00000535162.1_Missense_Mutation_p.M56L|NLRP12_ENST00000391775.3_Missense_Mutation_p.M56L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	56	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.M56L(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCTGGGCCATTTCCAGGGGA	0.587																																					p.M56L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A166C	19						.						77.0	74.0	75.0					19																	54327263		2203	4300	6503	59019075	SO:0001583	missense	91662	exon1			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.166A>C	19.37:g.54327263T>G	ENSP00000319377:p.Met56Leu		59019075	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	0.028	-1.354124	0.01256	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.7	-0.261	0.12963	Pyrin (2);DEATH-like (2);	0.817960	0.10538	N	0.663031	T	0.08980	0.0222	N	0.03238	-0.38	0.29134	N	0.879425	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.37502	-0.9703	10	0.02654	T	1	.	2.4669	0.04554	0.3528:0.205:0.0:0.4422	.	56;56;56;56	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	56	ENSP00000319377:M56L;ENSP00000438030:M56L;ENSP00000340473:M56L;ENSP00000346231:M56L;ENSP00000375655:M56L;ENSP00000375653:M56L;ENSP00000375652:M56L	ENSP00000319377:M56L	M	-	1	0	NLRP12	59019075	0.078000	0.21339	0.305000	0.25099	0.462000	0.32619	-0.068000	0.11561	-0.012000	0.14223	0.254000	0.18369	ATG		0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PRKCG	5582	broad.mit.edu	37	19	54387447	54387447	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54387447G>A	ENST00000263431.3	+	3	517	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	PRKCG_ENST00000540413.1_Missense_Mutation_p.E79K|PRKCG_ENST00000542049.1_Missense_Mutation_p.R3Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.E79K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	79					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.E79K(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACGATGCCACGAATTTGTGAC	0.592																																					p.E79K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G235A	19						.						91.0	81.0	84.0					19																	54387447		2203	4300	6503	59079259	SO:0001583	missense	5582	exon3			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.235G>A	19.37:g.54387447G>A	ENSP00000263431:p.Glu79Lys		59079259	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.616599|4.616599	0.87359|0.87359	.|.	.|.	ENSG00000126583|ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486|ENST00000542049	D;D;D|T	0.92699|0.69561	-3.09;-3.09;-3.09|-0.41	4.68|4.68	4.68|4.68	0.58851|0.58851	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);|.	.|.	.|.	.|.	.|.	T|T	0.73361|0.73361	0.3577|0.3577	L|L	0.35593|0.35593	1.075|1.075	0.30700|0.30700	N|N	0.750409|0.750409	D;D;P;P|D	0.63046|0.69078	0.992;0.987;0.796;0.766|0.997	P;P;B;P|D	0.58820|0.67725	0.843;0.846;0.362;0.546|0.953	T|T	0.73742|0.73742	-0.3887|-0.3887	9|9	0.41790|0.87932	T|D	0.15|0	.|.	15.4645|15.4645	0.75387|0.75387	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	79;79;79;79|3	F5H5C4;B7Z870;B7Z3W6;P05129|B7Z8Q0	.;.;.;KPCG_HUMAN|.	K|Q	79;79;79;102|3	ENSP00000440541:E79K;ENSP00000443493:E79K;ENSP00000263431:E79K|ENSP00000438090:R3Q	ENSP00000263431:E79K|ENSP00000438090:R3Q	E|R	+|+	1|2	0|0	PRKCG|PRKCG	59079259|59079259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	6.844000|6.844000	0.75390|0.75390	2.332000|2.332000	0.79248|0.79248	0.313000|0.313000	0.20887|0.20887	GAA|CGA		0.592	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
CACNG6	59285	broad.mit.edu	37	19	54501518	54501518	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54501518C>A	ENST00000252729.2	+	2	947	c.357C>A	c.(355-357)ttC>ttA	p.F119L	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Missense_Mutation_p.F119L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	119					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F119L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ATTTTAAATTCTTCACCACGG	0.507																																					p.F119L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C357A	19						.						111.0	95.0	100.0					19																	54501518		2203	4300	6503	59193330	SO:0001583	missense	59285	exon2			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.357C>A	19.37:g.54501518C>A	ENSP00000252729:p.Phe119Leu		59193330	NM_145815		Missense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041390	0.75732	.	.	ENSG00000130433	ENST00000252729;ENST00000346968	T;T	0.35789	1.31;1.29	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.98;0.989	T	0.40308	-0.9570	10	0.22706	T	0.39	-15.569	14.9705	0.71229	0.0:1.0:0.0:0.0	.	119;119	A6NFR2;Q9BXT2	.;CCG6_HUMAN	L	119	ENSP00000252729:F119L;ENSP00000319097:F119L	ENSP00000252729:F119L	F	+	3	2	CACNG6	59193330	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.127000	0.57944	2.685000	0.91497	0.655000	0.94253	TTC		0.507	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1		
TMC4	147798	broad.mit.edu	37	19	54667480	54667480	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54667480C>T	ENST00000376591.4	-	8	1402	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TMC4_ENST00000301187.4_Missense_Mutation_p.R418H|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	424					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R418H(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AACGATCTGGCGACTCCGAGT	0.572											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R424H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1271A	19						.						104.0	96.0	98.0					19																	54667480		2203	4300	6503	59359292	SO:0001583	missense	147798	exon8			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1271G>A	19.37:g.54667480C>T	ENSP00000365776:p.Arg424His	1002	59359292	NM_001145303	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	C	4.375	0.069118	0.08436	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.50001	0.76;0.76	5.21	-0.714	0.11219	.	1.813140	0.02102	N	0.054020	T	0.36771	0.0979	L	0.45228	1.405	0.49687	D	0.999819	B;B	0.12630	0.006;0.002	B;B	0.10450	0.001;0.005	T	0.23190	-1.0195	10	0.14656	T	0.56	-4.9514	4.3563	0.11179	0.2444:0.4698:0.0:0.2858	.	424;418	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	H	418;424	ENSP00000301187:R418H;ENSP00000365776:R424H	ENSP00000301187:R418H	R	-	2	0	TMC4	59359292	0.091000	0.21658	0.961000	0.40146	0.114000	0.19823	-0.459000	0.06728	-0.152000	0.11156	-0.219000	0.12488	CGC		0.572	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
RPS9	6203	broad.mit.edu	37	19	54705148	54705148	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54705148C>T	ENST00000302907.4	+	2	268	c.96C>T	c.(94-96)atC>atT	p.I32I	RPS9_ENST00000441429.1_Splice_Site_p.I32I|RPS9_ENST00000391751.3_Splice_Site_p.I32I|RPS9_ENST00000391752.1_Splice_Site_p.I32I|AC012314.20_ENST00000426213.1_RNA|RPS9_ENST00000402367.1_Splice_Site_p.I32I|RPS9_ENST00000391753.2_Splice_Site_p.I32I	NM_001013.3	NP_001004.2	P46781	RS9_HUMAN	ribosomal protein S9	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)	p.I32I(1)		NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		TGAAGCTGATCGGTGAGTGGC	0.572																																					p.I32I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C96T	19						.						40.0	41.0	40.0					19																	54705148		2203	4300	6503	59396960	SO:0001630	splice_region_variant	6203	exon2			U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889		"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631				7772601, 9582194	Standard	XM_005259135		Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.97+1C>T	19.37:g.54705148C>T			59396960	NM_001013	A9C4C1|Q4QRK7|Q9BVZ0	Silent	SNP	ENST00000302907.4	37	CCDS12884.1																																																																																				0.572	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3	NM_001013	Silent
LILRA6	79168	broad.mit.edu	37	19	54746102	54746102	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54746102C>T	ENST00000396365.2	-	3	194	c.155G>A	c.(154-156)aGc>aAc	p.S52N	LILRA6_ENST00000245621.5_Missense_Mutation_p.S52N|LILRA6_ENST00000440558.2_Missense_Mutation_p.S52N|LILRA6_ENST00000419410.2_Missense_Mutation_p.S52N|LILRA6_ENST00000270464.5_Missense_Mutation_p.S52N|LILRA6_ENST00000391735.3_Missense_Mutation_p.S52N|LILRB3_ENST00000407860.2_Missense_Mutation_p.S52N	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	52					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S52N(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCCTCCAGGCTCCCCTGACA	0.582																																					p.S52N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G155A	19						.						210.0	211.0	211.0					19																	54746102		2203	4300	6503	59437914	SO:0001583	missense	11025	exon3			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.155G>A	19.37:g.54746102C>T	ENSP00000379651:p.Ser52Asn		59437914	NM_024318		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	4.117	0.019982	0.08006	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62;2.62	3.19	0.725	0.18242	Immunoglobulin-like fold (1);	0.908784	0.09292	N	0.822121	T	0.09686	0.0238	L	0.31371	0.925	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.24533	0.003;0.0;0.0;0.0;0.105;0.001;0.002;0.002;0.001;0.01	B;B;B;B;B;B;B;B;B;B	0.26517	0.01;0.003;0.003;0.003;0.07;0.006;0.012;0.004;0.016;0.015	T	0.40701	-0.9549	10	0.30854	T	0.27	.	5.5285	0.16970	0.0:0.2261:0.5469:0.227	.	52;52;52;52;52;52;52;52;52;52	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	N	52	ENSP00000384274:S52N;ENSP00000390120:S52N;ENSP00000270464:S52N;ENSP00000411227:S52N;ENSP00000375615:S52N;ENSP00000379651:S52N;ENSP00000245621:S52N	ENSP00000245621:S52N	S	-	2	0	LILRB3;LILRA6	59437914	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.668000	0.01959	0.162000	0.19483	-1.271000	0.01417	AGC		0.582	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	
LILRB5	10990	broad.mit.edu	37	19	54756374	54756374	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54756374G>A	ENST00000316219.5	-	10	1617	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.P496S|LILRB5_ENST00000345866.6_Missense_Mutation_p.P405S|LILRB5_ENST00000449561.2_Missense_Mutation_p.P505S	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	504					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.P504S(1)|p.P496S(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCCTTGGGCTCTGGCCCC	0.617																																					p.P505S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1513T	19						.						102.0	98.0	99.0					19																	54756374		2203	4300	6503	59448186	SO:0001583	missense	10990	exon10			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1510C>T	19.37:g.54756374G>A	ENSP00000320390:p.Pro504Ser		59448186	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578180	0.28180	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00475	7.22;7.17;7.21;7.24	2.08	-0.3	0.12804	.	.	.	.	.	T	0.00906	0.0030	M	0.70842	2.15	0.09310	N	1	D;P;B;P	0.89917	1.0;0.86;0.003;0.572	D;P;B;B	0.83275	0.996;0.661;0.007;0.052	T	0.51116	-0.8746	9	0.49607	T	0.09	.	3.2535	0.06823	0.1768:0.2791:0.5441:0.0	.	496;405;505;504	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	S	504;496;505;405	ENSP00000320390:P504S;ENSP00000414225:P496S;ENSP00000406478:P505S;ENSP00000263430:P405S	ENSP00000320390:P504S	P	-	1	0	LILRB5	59448186	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	0.707000	0.25704	-0.002000	0.14469	-0.291000	0.09656	CCC		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
LILRB5	10990	broad.mit.edu	37	19	54759181	54759181	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54759181G>A	ENST00000316219.5	-	5	1027	c.920C>T	c.(919-921)gCc>gTc	p.A307V	LILRB5_ENST00000450632.1_Missense_Mutation_p.A298V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A207V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A307V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	307	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A298V(1)|p.A307V(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCGCTGGGGGCCGACCACCT	0.672																																					p.A307V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C920T	19						.						31.0	33.0	32.0					19																	54759181		2201	4298	6499	59450993	SO:0001583	missense	10990	exon5			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.920C>T	19.37:g.54759181G>A	ENSP00000320390:p.Ala307Val		59450993	NM_001081442	Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621902	0.28889	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	2.62	0.228	0.15364	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.452860	0.05232	N	0.510635	T	0.39860	0.1094	M	0.89904	3.07	0.09310	N	1	D;P;D;D;D	0.76494	0.998;0.784;0.999;0.998;0.968	D;P;D;D;P	0.72625	0.978;0.465;0.919;0.952;0.831	T	0.09292	-1.0681	10	0.66056	D	0.02	.	3.0709	0.06230	0.1559:0.0:0.5821:0.2621	.	298;198;207;307;307	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	307;298;307;207	ENSP00000320390:A307V;ENSP00000414225:A298V;ENSP00000406478:A307V;ENSP00000263430:A207V	ENSP00000320390:A307V	A	-	2	0	LILRB5	59450993	0.075000	0.21258	0.067000	0.19924	0.009000	0.06853	0.266000	0.18534	0.137000	0.18759	0.446000	0.29264	GCC		0.672	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
LILRA5	353514	broad.mit.edu	37	19	54822896	54822896	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54822896C>A	ENST00000301219.3	-	5	619	c.500G>T	c.(499-501)aGa>aTa	p.R167I	LILRA5_ENST00000432233.3_Missense_Mutation_p.R167I|LILRA5_ENST00000346508.3_Missense_Mutation_p.R155I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.R155I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	167	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R167T(1)|p.R167I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTGTCGAATCTCAGCCGTGA	0.577																																					p.R167I												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G500T	19						.						68.0	67.0	67.0					19																	54822896		2203	4300	6503	59514708	SO:0001583	missense	353514	exon5			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.500G>T	19.37:g.54822896C>A	ENSP00000301219:p.Arg167Ile		59514708	NM_021250	A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155829	0.21454	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	3.14	-1.16	0.09678	Immunoglobulin-like fold (1);	2.567660	0.02050	U	0.049950	T	0.07503	0.0189	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.30542	0.156;0.073;0.284;0.048	B;B;B;B	0.29176	0.099;0.012;0.099;0.006	T	0.46331	-0.9199	10	0.87932	D	0	.	10.6179	0.45462	0.0:0.4078:0.5922:0.0	.	155;167;155;167	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	I	167;155;155;167	ENSP00000301219:R167I;ENSP00000302948:R155I;ENSP00000389499:R155I;ENSP00000404236:R167I	ENSP00000301219:R167I	R	-	2	0	LILRA5	59514708	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.008000	0.03663	-0.412000	0.07519	0.205000	0.17691	AGA		0.577	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
TTYH1	57348	broad.mit.edu	37	19	54942297	54942297	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54942297G>T	ENST00000376530.3	+	10	1156	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.E351D|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000391739.3_Nonsense_Mutation_p.G382*|TTYH1_ENST00000376531.3_Missense_Mutation_p.E351D	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	351					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.E351D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGTCCTTGGAGGAGACTCTGA	0.627																																					p.E351D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1053T	19						.						86.0	84.0	84.0					19																	54942297		2203	4300	6503	59634109	SO:0001583	missense	57348	exon10			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1053G>T	19.37:g.54942297G>T	ENSP00000365713:p.Glu351Asp		59634109	NM_001005367	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	CCDS12893.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.232262|6.232262	0.97399|0.97399	.|.	.|.	ENSG00000167614|ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531|ENST00000391739	T;T;T|.	0.11169|.	2.8;2.8;2.8|.	4.07|4.07	3.03|3.03	0.35002|0.35002	.|.	0.136231|.	0.48767|.	D|.	0.000172|.	T|.	0.35068|.	0.0919|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	A|A	1|1	P;D;P;P|.	0.53745|.	0.856;0.962;0.9;0.91|.	P;P;B;P|.	0.50082|.	0.605;0.605;0.39;0.63|.	T|.	0.33189|.	-0.9878|.	9|.	0.23302|0.16420	T|T	0.38|0.52	-11.679|-11.679	5.5772|5.5772	0.17231|0.17231	0.2192:0.0:0.7808:0.0|0.2192:0.0:0.7808:0.0	.|.	263;351;351;351|.	Q9H313-5;Q9H313-2;Q9H313-3;Q9H313|.	.;.;.;TTYH1_HUMAN|.	D|X	351|382	ENSP00000301194:E351D;ENSP00000365713:E351D;ENSP00000365714:E351D|.	ENSP00000301194:E351D|ENSP00000375619:G382X	E|G	+|+	3|1	2|0	TTYH1|TTYH1	59634109|59634109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	1.358000|1.358000	0.34102|0.34102	2.254000|2.254000	0.74563|0.74563	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.627	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
RFX2	5990	broad.mit.edu	37	19	6016224	6016224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6016224G>T	ENST00000303657.5	-	7	805	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	RFX2_ENST00000592546.1_Missense_Mutation_p.S194Y|RFX2_ENST00000359161.3_Missense_Mutation_p.S219Y|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S219Y(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTTGTAAAGAGAACTTCTGGG	0.512																																					p.S219Y	Colon(38;171 817 19800 47433 48051)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656A	19						.						96.0	90.0	92.0					19																	6016224		2203	4300	6503	5967224	SO:0001583	missense	5990	exon7				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.656C>A	19.37:g.6016224G>T	ENSP00000306335:p.Ser219Tyr		5967224	NM_000635	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	ENST00000303657.5	37	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151979	0.57151	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	D	0.82803	-1.65	4.64	4.64	0.57946	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	N	0.24115	0.695	0.80722	D	1	D;D	0.59357	0.985;0.98	P;P	0.62649	0.905;0.871	D	0.87080	0.2165	10	0.87932	D	0	-13.228	16.4582	0.84029	0.0:0.0:1.0:0.0	.	194;219	P48378-2;P48378	.;RFX2_HUMAN	Y	219;194	ENSP00000306335:S219Y	ENSP00000306335:S219Y	S	-	2	0	RFX2	5967224	1.000000	0.71417	0.091000	0.20842	0.118000	0.20060	9.602000	0.98312	2.286000	0.76751	0.561000	0.74099	TCT		0.512	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635	
LENG9	94059	broad.mit.edu	37	19	54973714	54973714	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54973714G>T	ENST00000333834.4	-	1	1180	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	354							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.F332L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGGGCACTAGGAAGTTGGCGC	0.632																																					p.F354L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1062A	19						.						69.0	64.0	66.0					19																	54973714		2203	4299	6502	59665526	SO:0001583	missense	94059	exon1			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1062C>A	19.37:g.54973714G>T	ENSP00000331647:p.Phe354Leu		59665526	NM_198988	B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095661	0.36952	.	.	ENSG00000182909	ENST00000333834	T	0.60299	0.2	4.39	2.2	0.27929	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.816417	0.11187	U	0.590298	T	0.49081	0.1536	M	0.64997	1.995	0.22591	N	0.998956	P	0.35714	0.517	B	0.35931	0.214	T	0.31308	-0.9948	10	0.15499	T	0.54	-21.594	6.2872	0.21039	0.1044:0.1872:0.7084:0.0	.	354	Q96B70	LENG9_HUMAN	L	354	ENSP00000331647:F354L	ENSP00000331647:F354L	F	-	3	2	LENG9	59665526	0.753000	0.28349	0.275000	0.24674	0.017000	0.09413	4.069000	0.57541	0.405000	0.25532	-0.502000	0.04539	TTC		0.632	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988	
LAIR2	3904	broad.mit.edu	37	19	55019239	55019239	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55019239C>T	ENST00000301202.2	+	3	326	c.204C>T	c.(202-204)taC>taT	p.Y68Y	LAIR2_ENST00000351841.2_Silent_p.Y68Y	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	68	Ig-like C2-type.					extracellular region (GO:0005576)		p.Y68Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGCCAAGTACAAAGATAGTT	0.527																																					p.Y68Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	19						.						111.0	103.0	106.0					19																	55019239		2203	4300	6503	59711051	SO:0001819	synonymous_variant	3904	exon3			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.204C>T	19.37:g.55019239C>T			59711051	NM_002288	Q6PEZ4	Silent	SNP	ENST00000301202.2	37	CCDS12897.1																																																																																				0.527	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1		
LILRA2	11027	broad.mit.edu	37	19	55086234	55086234	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55086234G>A	ENST00000251377.3	+	5	522	c.389G>A	c.(388-390)aGc>aAc	p.S130N	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Missense_Mutation_p.S130N|LILRA2_ENST00000391737.1_Missense_Mutation_p.S118N|LILRA2_ENST00000391738.3_Missense_Mutation_p.S130N|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	130	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.S130N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCTCTGCCCAGCCCTGTGGTG	0.557																																					p.S130N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	19						.						134.0	127.0	129.0					19																	55086234		2203	4300	6503	59778046	SO:0001583	missense	11027	exon4			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.389G>A	19.37:g.55086234G>A	ENSP00000251377:p.Ser130Asn		59778046	NM_001130917	O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283268	0.23392	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00848	5.62;5.62;5.62;5.62;5.62	2.93	0.528	0.17089	Immunoglobulin-like fold (1);	0.108353	0.41712	N	0.000836	T	0.03915	0.0110	M	0.91090	3.175	0.09310	N	1	B;B;P;B;B	0.40931	0.025;0.027;0.733;0.233;0.041	B;B;P;B;B	0.51866	0.022;0.039;0.682;0.16;0.065	T	0.05354	-1.0890	10	0.59425	D	0.04	.	7.5574	0.27833	0.0:0.0:0.5421:0.4579	.	130;130;118;130;130	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	N	130;130;130;130;118	ENSP00000388131:S130N;ENSP00000251377:S130N;ENSP00000375618:S130N;ENSP00000251376:S130N;ENSP00000375617:S118N	ENSP00000251376:S130N	S	+	2	0	LILRA2	59778046	0.013000	0.17824	0.015000	0.15790	0.003000	0.03518	1.491000	0.35583	0.078000	0.16900	-0.442000	0.05670	AGC		0.557	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		
LILRB1	10859	broad.mit.edu	37	19	55145137	55145137	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55145137C>A	ENST00000396331.1	+	9	1667	c.1310C>A	c.(1309-1311)tCt>tAt	p.S437Y	LILRB1_ENST00000396315.1_Missense_Mutation_p.S437Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Missense_Mutation_p.S437Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.S473Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.S437Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.S437Y|LILRB1_ENST00000396332.4_Missense_Mutation_p.S437Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.S437Y|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.S437Y|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	437					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.S437Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACCTCCACATCTGGTGAGTCC	0.617										HNSCC(37;0.09)																											p.S437Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1310A	19						.						26.0	30.0	29.0					19																	55145137		1897	4121	6018	59836949	SO:0001583	missense	10859	exon8			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1310C>A	19.37:g.55145137C>A	ENSP00000379622:p.Ser437Tyr		59836949	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	6.033	0.374394	0.11409	.	.	ENSG00000104972	ENST00000396321;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396315	T;T;T;T;T;T;T;T;T	0.00525	7.06;6.94;7.06;6.95;6.94;7.06;7.06;6.81;6.94	2.46	-1.69	0.08186	.	.	.	.	.	T	0.00552	0.0018	L	0.50333	1.59	0.09310	N	1	P;P;P;P;P	0.50819	0.595;0.939;0.829;0.939;0.938	B;P;B;P;B	0.46940	0.243;0.532;0.396;0.532;0.332	T	0.49428	-0.8941	9	0.66056	D	0.02	.	5.4755	0.16694	0.2115:0.3733:0.4152:0.0	.	437;437;437;437;437	D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	Y	437;437;437;437;437;437;437;473;437	ENSP00000379614:S437Y;ENSP00000409968:S437Y;ENSP00000379622:S437Y;ENSP00000379618:S437Y;ENSP00000315997:S437Y;ENSP00000405243:S437Y;ENSP00000379623:S437Y;ENSP00000395004:S473Y;ENSP00000379608:S437Y	ENSP00000315997:S437Y	S	+	2	0	LILRB1	59836949	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.357000	0.08175	-1.098000	0.02139	TCT		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
LILRB1	10859	broad.mit.edu	37	19	55146120	55146120	+	Silent	SNP	C	C	T	rs200419876		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55146120C>T	ENST00000396331.1	+	11	1746	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	LILRB1_ENST00000396315.1_Silent_p.I464I|LILRB1_ENST00000418536.2_Silent_p.I447I|LILRB1_ENST00000448689.1_Silent_p.I463I|LILRB1_ENST00000427581.2_Silent_p.I513I|LILRB1_ENST00000324602.7_Silent_p.I464I|LILRB1_ENST00000396321.2_Silent_p.I463I|LILRB1_ENST00000396332.4_Silent_p.I463I|LILRB1_ENST00000434867.2_Silent_p.I463I|LILRB1_ENST00000396317.1_Silent_p.I447I|LILRB1_ENST00000396327.3_Silent_p.I464I|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	463					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.I463I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGTTGTGATCGGCATCTTGG	0.567										HNSCC(37;0.09)			c|||	1	0.000199681	0.0	0.0014	5008	,	,		17894	0.0		0.0	False		,,,				2504	0.0				p.I463I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	19						.						137.0	107.0	117.0					19																	55146120		2203	4300	6503	59837932	SO:0001819	synonymous_variant	10859	exon10			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1389C>T	19.37:g.55146120C>T			59837932	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.567	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
LILRB1	10859	broad.mit.edu	37	19	55148247	55148247	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55148247G>A	ENST00000396331.1	+	16	2228	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	LILRB1_ENST00000396315.1_Missense_Mutation_p.R626Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.R608Q|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.R675Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.R626Q|LILRB1_ENST00000396321.2_Missense_Mutation_p.R624Q|LILRB1_ENST00000396332.4_Missense_Mutation_p.R625Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.R624Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.R608Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.R625Q|LILRB1_ENST00000462628.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	624					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.R624Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACCCTCAGACGGGAGGCAACT	0.647										HNSCC(37;0.09)																											p.R625Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874A	19						.						98.0	85.0	89.0					19																	55148247		2203	4300	6503	59840059	SO:0001583	missense	10859	exon15			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1871G>A	19.37:g.55148247G>A	ENSP00000379622:p.Arg624Gln		59840059	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	5.915	0.352927	0.11182	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00481	7.18;7.11;7.18;7.17;7.16;7.18;7.17;7.15;7.11;7.16	2.1	-2.03	0.07365	.	.	.	.	.	T	0.00241	0.0007	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.30542	0.052;0.284;0.006;0.088;0.025	B;B;B;B;B	0.21546	0.023;0.035;0.009;0.021;0.004	T	0.28776	-1.0033	9	0.18710	T	0.47	.	2.1898	0.03896	0.3861:0.0:0.3599:0.2539	.	608;626;625;625;624	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	Q	624;608;624;625;626;624;625;675;608;626	ENSP00000379614:R624Q;ENSP00000391514:R608Q;ENSP00000379622:R624Q;ENSP00000379618:R625Q;ENSP00000315997:R626Q;ENSP00000405243:R624Q;ENSP00000379623:R625Q;ENSP00000395004:R675Q;ENSP00000379610:R608Q;ENSP00000379608:R626Q	ENSP00000315997:R626Q	R	+	2	0	LILRB1	59840059	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.020000	0.03618	-0.545000	0.06224	0.194000	0.17425	CGG		0.647	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
KIR3DL1	3811	broad.mit.edu	37	19	55341721	55341721	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55341721C>A	ENST00000391728.4	+	9	1359	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.S425S|KIR3DL1_ENST00000538269.1_Silent_p.S442S|KIR3DL1_ENST00000358178.4_Silent_p.S347S|KIR3DL1_ENST00000326542.7_Silent_p.S425S	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	442					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.S442S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAGTTGTCTCCTGCCCATGAG	0.532																																					p.S442S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326A	19						.						220.0	204.0	210.0					19																	55341721		2173	4170	6343	60033533	SO:0001819	synonymous_variant	3811	exon9			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1326C>A	19.37:g.55341721C>A			60033533	NM_013289	O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
NLRP7	199713	broad.mit.edu	37	19	55450611	55450611	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55450611C>T	ENST00000590030.1	-	3	1616	c.1576G>A	c.(1576-1578)Gct>Act	p.A526T	NLRP7_ENST00000328092.5_Missense_Mutation_p.A526T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A526T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A526T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A554T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A526T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A526T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	526							ATP binding (GO:0005524)	p.A526T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTCGTTAGCGAGGCCGAAT	0.527																																					p.A526T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	19						.						79.0	80.0	79.0					19																	55450611		2203	4300	6503	60142423	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1576G>A	19.37:g.55450611C>T	ENSP00000465520:p.Ala526Thr		60142423	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246805	0.10130	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73363	-0.68;-0.68;-0.74;-0.71	2.34	-4.67	0.03319	.	3.583670	0.01181	N	0.007097	T	0.53417	0.1795	N	0.19112	0.55	0.09310	N	1	P;P;P;P	0.48350	0.909;0.909;0.909;0.865	B;B;B;B	0.38500	0.255;0.255;0.255;0.275	T	0.55786	-0.8086	10	0.39692	T	0.17	.	2.61	0.04888	0.1697:0.4522:0.2391:0.139	.	554;526;526;526	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	526;526;526;554;293	ENSP00000329568:A526T;ENSP00000409137:A526T;ENSP00000339491:A526T;ENSP00000414273:A554T	ENSP00000329568:A526T	A	-	1	0	NLRP7	60142423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.713000	0.00816	-1.982000	0.00988	-0.521000	0.04368	GCT		0.527	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP7	199713	broad.mit.edu	37	19	55451499	55451499	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55451499C>A	ENST00000590030.1	-	3	728	c.688G>T	c.(688-690)Gac>Tac	p.D230Y	NLRP7_ENST00000328092.5_Missense_Mutation_p.D230Y|NLRP7_ENST00000588756.1_Missense_Mutation_p.D230Y|NLRP7_ENST00000340844.2_Missense_Mutation_p.D230Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.D258Y|NLRP7_ENST00000592784.1_Missense_Mutation_p.D230Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.D230Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	230	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.D230Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGGCCAGTCTTTGGAGATC	0.557																																					p.D230Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G688T	19						.						115.0	114.0	114.0					19																	55451499		2203	4300	6503	60143311	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.688G>T	19.37:g.55451499C>A	ENSP00000465520:p.Asp230Tyr		60143311	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.706415	0.30232	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	1.88	-1.63	0.08345	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.86075	0.5846	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.77557	0.99;0.99;0.99;0.983	T	0.74968	-0.3483	9	0.66056	D	0.02	.	6.0467	0.19764	0.0:0.5882:0.0:0.4118	.	258;230;230;230	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	Y	230;230;230;258	ENSP00000329568:D230Y;ENSP00000409137:D230Y;ENSP00000339491:D230Y;ENSP00000414273:D258Y	ENSP00000329568:D230Y	D	-	1	0	NLRP7	60143311	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.066000	0.11598	-0.334000	0.08463	0.462000	0.41574	GAC		0.557	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP7	199713	broad.mit.edu	37	19	55451782	55451782	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55451782C>A	ENST00000590030.1	-	3	445	c.405G>T	c.(403-405)aaG>aaT	p.K135N	NLRP7_ENST00000328092.5_Missense_Mutation_p.K135N|NLRP7_ENST00000588756.1_Missense_Mutation_p.K135N|NLRP7_ENST00000340844.2_Missense_Mutation_p.K135N|NLRP7_ENST00000446217.1_Missense_Mutation_p.K163N|NLRP7_ENST00000592784.1_Missense_Mutation_p.K135N|NLRP7_ENST00000448121.2_Missense_Mutation_p.K135N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	135							ATP binding (GO:0005524)	p.K135N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AAAAGGTGTTCTTCCAGACCA	0.448																																					p.K135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G405T	19						.						295.0	323.0	313.0					19																	55451782		2203	4300	6503	60143594	SO:0001583	missense	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.405G>T	19.37:g.55451782C>A	ENSP00000465520:p.Lys135Asn		60143594	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	5.060	0.196795	0.09599	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.74106	-0.77;-0.77;-0.81;-0.78	1.87	-1.67	0.08238	.	.	.	.	.	T	0.59321	0.2185	N	0.08118	0	0.09310	N	1	D;P;P;D	0.59357	0.975;0.745;0.745;0.985	P;P;P;P	0.56916	0.556;0.448;0.448;0.809	T	0.52094	-0.8621	9	0.23891	T	0.37	.	3.2262	0.06732	0.0:0.3073:0.2271:0.4656	.	163;135;135;135	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	135;135;135;163	ENSP00000329568:K135N;ENSP00000409137:K135N;ENSP00000339491:K135N;ENSP00000414273:K163N	ENSP00000329568:K135N	K	-	3	2	NLRP7	60143594	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.089000	0.15002	-0.374000	0.07967	-0.300000	0.09419	AAG		0.448	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP2	55655	broad.mit.edu	37	19	55489157	55489157	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55489157C>T	ENST00000543010.1	+	4	506	c.363C>T	c.(361-363)gaC>gaT	p.D121D	NLRP2_ENST00000537859.1_Silent_p.D121D|NLRP2_ENST00000448584.2_Silent_p.D121D|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000339757.7_Silent_p.D121D|NLRP2_ENST00000263437.6_Silent_p.D121D|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000427260.2_Silent_p.D98D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	121					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.D121D(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAGACGTGGACGAAATGCTGG	0.547																																					p.D98D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294T	19						.						128.0	104.0	112.0					19																	55489157		2203	4300	6503	60180969	SO:0001819	synonymous_variant	55655	exon5			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.363C>T	19.37:g.55489157C>T			60180969	NM_001174083	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				0.547	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
NLRP2	55655	broad.mit.edu	37	19	55508820	55508820	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55508820C>A	ENST00000543010.1	+	12	3158	c.3015C>A	c.(3013-3015)acC>acA	p.T1005T	NLRP2_ENST00000537859.1_Silent_p.T983T|NLRP2_ENST00000448584.2_Silent_p.T1005T|NLRP2_ENST00000391721.4_Silent_p.T981T|NLRP2_ENST00000339757.7_Silent_p.T983T|NLRP2_ENST00000263437.6_Silent_p.T1002T|NLRP2_ENST00000538819.1_Silent_p.T981T|NLRP2_ENST00000427260.2_Silent_p.T982T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1005					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.T1005T(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTTTGAAACCTTGACATGTT	0.522																																					p.T982T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2946A	19						.						213.0	192.0	199.0					19																	55508820		2203	4300	6503	60200632	SO:0001819	synonymous_variant	55655	exon13			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3015C>A	19.37:g.55508820C>A			60200632	NM_001174083	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				0.522	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
GP6	51206	broad.mit.edu	37	19	55527100	55527100	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55527100C>A	ENST00000417454.1	-	7	753	c.726G>T	c.(724-726)gaG>gaT	p.E242D	GP6_ENST00000310373.3_Splice_Site_p.E242D|GP6_ENST00000333884.2_Splice_Site_p.E224D|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	242					blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E242D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCTAGAAGTCTCTGGGAACC	0.522																																					p.E242D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	19						.						62.0	69.0	67.0					19																	55527100		1995	4165	6160	60218912	SO:0001630	splice_region_variant	51206	exon7			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.725-1G>T	19.37:g.55527100C>A			60218912	NM_016363	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812812	0.32053	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.00520	6.91;6.85;6.96	3.15	-0.412	0.12367	.	.	.	.	.	T	0.00356	0.0011	L	0.34521	1.04	0.09310	N	1	B;P;B	0.47253	0.418;0.892;0.244	B;B;B	0.41036	0.236;0.346;0.073	T	0.50268	-0.8848	9	0.62326	D	0.03	.	3.0873	0.06281	0.0:0.4768:0.2294:0.2938	.	224;242;242	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	D	242;242;224	ENSP00000394922:E242D;ENSP00000308782:E242D;ENSP00000334552:E224D	ENSP00000308782:E242D	E	-	3	2	GP6	60218912	0.000000	0.05858	0.000000	0.03702	0.303000	0.27691	-0.134000	0.10436	-0.007000	0.14345	-0.175000	0.13238	GAG		0.522	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		Missense_Mutation
PPP1R12C	54776	broad.mit.edu	37	19	55607513	55607513	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55607513C>A	ENST00000263433.3	-	8	1074	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K353N|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K279N	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.K353N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGAGGGAAATCTTCTCGCGAC	0.677																																					p.K353N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1059T	19						.						51.0	60.0	57.0					19																	55607513		2203	4300	6503	60299325	SO:0001583	missense	54776	exon8			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1059G>T	19.37:g.55607513C>A	ENSP00000263433:p.Lys353Asn		60299325	NM_017607		Missense_Mutation	SNP	ENST00000263433.3	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848950	0.71603	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.71222	-0.42;-0.5;-0.55	4.59	3.53	0.40419	.	0.128764	0.48767	D	0.000166	T	0.76169	0.3950	L	0.59436	1.845	0.46376	D	0.999019	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.997	T	0.71464	-0.4585	10	0.20046	T	0.44	.	7.6889	0.28557	0.0:0.8037:0.0:0.1963	.	279;353;353	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	N	353;353;279	ENSP00000263433:K353N;ENSP00000365573:K353N;ENSP00000387833:K279N	ENSP00000263433:K353N	K	-	3	2	PPP1R12C	60299325	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.366000	0.34193	2.261000	0.74972	0.655000	0.94253	AAG		0.677	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	
PTPRH	5794	broad.mit.edu	37	19	55713438	55713438	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55713438C>T	ENST00000376350.3	-	6	1161	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R202Q|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	380	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R380Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTGGCATTTCGAGTCTCCCG	0.473																																					p.R380Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1139A	19						.						122.0	123.0	123.0					19																	55713438		2203	4300	6503	60405250	SO:0001583	missense	5794	exon6				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1139G>A	19.37:g.55713438C>T	ENSP00000365528:p.Arg380Gln		60405250	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614971	0.28712	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.53423	0.62;0.62	4.79	-4.74	0.03249	Fibronectin, type III (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	P;P;D	0.53619	0.884;0.929;0.961	B;B;B	0.36464	0.098;0.2;0.225	T	0.28332	-1.0047	9	0.12766	T	0.61	.	1.6028	0.02678	0.2485:0.2662:0.0812:0.4042	.	202;202;380	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	Q	380;202	ENSP00000365528:R380Q;ENSP00000263434:R202Q	ENSP00000263434:R202Q	R	-	2	0	PTPRH	60405250	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.937000	0.03942	-1.466000	0.01897	-1.613000	0.00800	CGA		0.473	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
HSPBP1	23640	broad.mit.edu	37	19	55774019	55774019	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55774019T>C	ENST00000255631.5	-	9	1347	c.1037A>G	c.(1036-1038)cAg>cGg	p.Q346R	HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q346R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q346R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q244R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	349					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.Q346R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAAACAGGTCTGTAGCAGCTT	0.622																																					p.Q346R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1037G	19						.						71.0	55.0	60.0					19																	55774019		2203	4300	6503	60465831	SO:0001583	missense	23640	exon8				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.1037A>G	19.37:g.55774019T>C	ENSP00000255631:p.Gln346Arg		60465831	NM_012267	B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.257489	0.22965	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.51071	0.72;0.72;0.72	4.51	4.51	0.55191	Armadillo-type fold (1);	0.871117	0.10222	N	0.700778	T	0.34106	0.0886	L	0.29908	0.895	0.20638	N	0.99988	B;B	0.23891	0.049;0.093	B;B	0.23574	0.032;0.047	T	0.22103	-1.0226	10	0.15499	T	0.54	.	8.5332	0.33346	0.0:0.0:0.1957:0.8043	.	349;392	Q9NZL4;B4DG11	HPBP1_HUMAN;.	R	346;346;244	ENSP00000398244:Q346R;ENSP00000255631:Q346R;ENSP00000365521:Q244R	ENSP00000255631:Q346R	Q	-	2	0	HSPBP1	60465831	0.495000	0.26051	1.000000	0.80357	0.378000	0.30076	0.857000	0.27831	1.817000	0.53016	0.254000	0.18369	CAG		0.622	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267	
ZNF628	89887	broad.mit.edu	37	19	55992811	55992811	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:55992811G>A	ENST00000598519.1	+	3	804	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	ZNF628_ENST00000391718.2_Missense_Mutation_p.R80Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	84					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.R80Q(1)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TACCACCAGCGAGGCCACACG	0.672																																					p.R80Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	19						.						41.0	41.0	41.0					19																	55992811		2203	4298	6501	60684623	SO:0001583	missense	89887	exon3			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.251G>A	19.37:g.55992811G>A	ENSP00000469591:p.Arg84Gln		60684623	NM_033113	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	15.14	2.744161	0.49151	.	.	ENSG00000197483	ENST00000391718	T	0.24723	1.84	3.56	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	U	0.000666	T	0.44350	0.1289	L	0.56199	1.76	0.31650	N	0.646954	D	0.89917	1.0	D	0.85130	0.997	T	0.52533	-0.8563	10	0.72032	D	0.01	-15.9567	13.0316	0.58845	0.0:0.0:1.0:0.0	.	80	Q5EBL2	ZN628_HUMAN	Q	80	ENSP00000375598:R80Q	ENSP00000375598:R80Q	R	+	2	0	ZNF628	60684623	0.983000	0.35010	0.916000	0.36221	0.008000	0.06430	3.400000	0.52594	2.001000	0.58596	0.491000	0.48974	CGA		0.672	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964	
U2AF2	11338	broad.mit.edu	37	19	56180089	56180089	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56180089G>T	ENST00000308924.4	+	9	916	c.876G>T	c.(874-876)aaG>aaT	p.K292N	U2AF2_ENST00000450554.2_Missense_Mutation_p.K292N|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.K128N|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	292	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K292N(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACCTGGTCAAGGACAGTGCCA	0.632																																					p.K292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G876T	19						.						63.0	61.0	62.0					19																	56180089		2203	4300	6503	60871901	SO:0001583	missense	11338	exon9			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.876G>T	19.37:g.56180089G>T	ENSP00000307863:p.Lys292Asn		60871901	NM_007279	Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740244	0.69304	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.75704	-0.96;1.15	4.4	3.33	0.38152	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.85957	0.5818	M	0.90019	3.08	0.53005	D	0.999964	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.98	D	0.86236	0.1640	10	0.49607	T	0.09	-31.7421	8.9744	0.35926	0.1838:0.0:0.8162:0.0	.	292;292	P26368;P26368-2	U2AF2_HUMAN;.	N	292	ENSP00000307863:K292N;ENSP00000388475:K292N	ENSP00000307863:K292N	K	+	3	2	U2AF2	60871901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.778000	0.38614	2.184000	0.69523	0.655000	0.94253	AAG		0.632	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	
NLRP9	338321	broad.mit.edu	37	19	56241247	56241247	+	Silent	SNP	C	C	T	rs201513039		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56241247C>T	ENST00000332836.2	-	3	1971	c.1944G>A	c.(1942-1944)gcG>gcA	p.A648A		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	648						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A648A(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCAAAGAATCGCCAGGGAGG	0.438																																					p.A648A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1944A	19						.						90.0	89.0	89.0					19																	56241247		2203	4300	6503	60933059	SO:0001819	synonymous_variant	338321	exon3			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1944G>A	19.37:g.56241247C>T			60933059	NM_176820	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP9	338321	broad.mit.edu	37	19	56243394	56243394	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56243394G>T	ENST00000332836.2	-	2	1830	c.1803C>A	c.(1801-1803)atC>atA	p.I601I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	601						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.I601I(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCTGGAAAGATATTCTCCA	0.413																																					p.I601I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1803A	19						.						78.0	75.0	76.0					19																	56243394		2203	4300	6503	60935206	SO:0001819	synonymous_variant	338321	exon2			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1803C>A	19.37:g.56243394G>T			60935206	NM_176820	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP9	338321	broad.mit.edu	37	19	56243505	56243505	+	Missense_Mutation	SNP	G	G	T	rs145361464	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56243505G>T	ENST00000332836.2	-	2	1719	c.1692C>A	c.(1690-1692)ttC>ttA	p.F564L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	564						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.F564L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTTCTTCAAAGAAATTCATCA	0.353													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		21224	0.0		0.0	False		,,,				2504	0.0				p.F564L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1692A	19						.	G	LEU/PHE	16,4390	22.3+/-47.3	0,16,2187	60.0	61.0	60.0		1692	2.2	0.0	19	dbSNP_134	60	0,8600		0,0,4300	yes	missense	NLRP9	NM_176820.2	22	0,16,6487	TT,TG,GG		0.0,0.3631,0.123	benign	564/992	56243505	16,12990	2203	4300	6503	60935317	SO:0001583	missense	338321	exon2			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1692C>A	19.37:g.56243505G>T	ENSP00000331857:p.Phe564Leu		60935317	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	0.016	-1.515603	0.00975	0.003631	0.0	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.51817	0.69	2.23	2.23	0.28157	.	.	.	.	.	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	B	0.15719	0.014	B	0.15484	0.013	T	0.16689	-1.0394	9	0.10377	T	0.69	.	8.1026	0.30865	0.0:0.0:1.0:0.0	.	564	Q7RTR0	NALP9_HUMAN	L	564	ENSP00000331857:F564L	ENSP00000331857:F564L	F	-	3	2	NLRP9	60935317	0.069000	0.21087	0.047000	0.18901	0.008000	0.06430	0.436000	0.21526	1.588000	0.49971	0.644000	0.83932	TTC		0.353	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478																																					p.S218F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653T	19						.						31.0	32.0	32.0					19																	56244544		2203	4300	6503	60936356	SO:0001583	missense	338321	exon2			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.653C>T	19.37:g.56244544G>A	ENSP00000331857:p.Ser218Phe		60936356	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795382	0.31777	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.64618	-0.11	2.46	2.46	0.29980	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78259	0.4255	M	0.87682	2.9	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63699	-0.6578	9	0.87932	D	0	.	6.6558	0.22986	0.0:0.0:0.7174:0.2826	.	218	Q7RTR0	NALP9_HUMAN	F	218	ENSP00000331857:S218F	ENSP00000331857:S218F	S	-	2	0	NLRP9	60936356	0.000000	0.05858	0.048000	0.18961	0.008000	0.06430	-0.315000	0.08081	1.731000	0.51592	0.644000	0.83932	TCC		0.478	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
ACSBG2	81616	broad.mit.edu	37	19	6151751	6151751	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6151751C>A	ENST00000586696.1	+	4	607	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L111M|ACSBG2_ENST00000588304.1_Missense_Mutation_p.L61M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L111M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	111					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.L111M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTTGGTATCCTGGGGTTTAA	0.458																																					p.L111M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	19						.						160.0	126.0	138.0					19																	6151751		2203	4300	6503	6102751	SO:0001583	missense	81616	exon4				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.331C>A	19.37:g.6151751C>A	ENSP00000465589:p.Leu111Met		6102751	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140968	0.77775	.	.	ENSG00000130377	ENST00000252669	T	0.46063	0.88	4.67	3.62	0.41486	AMP-dependent synthetase/ligase (1);	0.000000	0.27622	N	0.018557	T	0.54647	0.1871	L	0.48218	1.51	0.58432	D	0.999996	P;D	0.65815	0.933;0.995	P;D	0.70016	0.897;0.967	T	0.55598	-0.8116	10	0.59425	D	0.04	-21.488	12.2343	0.54505	0.1715:0.8285:0.0:0.0	.	111;111	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	M	111	ENSP00000252669:L111M	ENSP00000252669:L111M	L	+	1	2	ACSBG2	6102751	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	0.847000	0.27696	1.074000	0.40909	0.455000	0.32223	CTG		0.458	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP11	204801	broad.mit.edu	37	19	56329310	56329310	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56329310A>C	ENST00000589093.1	-	2	324	c.231T>G	c.(229-231)cgT>cgG	p.R77R	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Silent_p.R77R|NLRP11_ENST00000360133.3_Silent_p.R77R|NLRP11_ENST00000443188.1_Silent_p.R77R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R77R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GATCTTCCTTACGCATCATTG	0.448																																					p.R77R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T231G	19						.						126.0	114.0	118.0					19																	56329310		2203	4300	6503	61021122	SO:0001819	synonymous_variant	204801	exon4			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.231T>G	19.37:g.56329310A>C			61021122	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	broad.mit.edu	37	19	56370017	56370017	+	Missense_Mutation	SNP	C	C	T	rs140509890	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56370017C>T	ENST00000301295.6	+	3	1680	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R345W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R420W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R420W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACGACCTCCGGAGAAATGG	0.582													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18850	0.0		0.0	False		,,,				2504	0.001				p.R420W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1258T	19						.	C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	107.0	106.0	106.0		1258	-4.4	0.0	19	dbSNP_134	106	0,8600		0,0,4300	yes	missense	NLRP4	NM_134444.4	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	420/995	56370017	3,13003	2203	4300	6503	61061829	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1258C>T	19.37:g.56370017C>T	ENSP00000301295:p.Arg420Trp		61061829	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669306	0.47677	6.81E-4	0.0	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.84660	-1.88;-1.88	4.09	-4.44	0.03557	.	.	.	.	.	D	0.88976	0.6584	M	0.70108	2.13	0.09310	N	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.87578	0.871;0.998;0.995	T	0.81978	-0.0685	9	0.87932	D	0	.	7.6799	0.28507	0.2079:0.5349:0.2572:0.0	.	420;345;420	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	420	ENSP00000301295:R420W;ENSP00000344787:R420W	ENSP00000301295:R420W	R	+	1	2	NLRP4	61061829	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-0.323000	0.07997	-1.229000	0.02564	-0.275000	0.10095	CGG		0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP4	147945	broad.mit.edu	37	19	56370116	56370116	+	Missense_Mutation	SNP	G	G	A	rs140761924		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56370116G>A	ENST00000301295.6	+	3	1779	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	NLRP4_ENST00000587891.1_Missense_Mutation_p.V378M|NLRP4_ENST00000346986.5_Missense_Mutation_p.V453M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	453	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.V453M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTCCTCCACGTGTGTATCCA	0.537																																					p.V453M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	19						.	G	MET/VAL	0,4406		0,0,2203	146.0	139.0	141.0		1357	-8.2	0.0	19	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NLRP4	NM_134444.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	453/995	56370116	2,13004	2203	4300	6503	61061928	SO:0001583	missense	147945	exon3			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1357G>A	19.37:g.56370116G>A	ENSP00000301295:p.Val453Met		61061928	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	7.739	0.700821	0.15172	0.0	2.33E-4	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.84223	-1.82;-1.82	4.1	-8.19	0.01049	.	.	.	.	.	T	0.62950	0.2470	N	0.10972	0.075	0.09310	N	1	B;B;B	0.19200	0.034;0.027;0.012	B;B;B	0.15870	0.01;0.014;0.003	T	0.52200	-0.8607	9	0.49607	T	0.09	.	2.0714	0.03614	0.1069:0.2637:0.2298:0.3995	.	453;378;453	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	453	ENSP00000301295:V453M;ENSP00000344787:V453M	ENSP00000301295:V453M	V	+	1	0	NLRP4	61061928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.589000	0.00900	-3.018000	0.00270	-0.302000	0.09304	GTG		0.537	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
NLRP13	126204	broad.mit.edu	37	19	56419202	56419202	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56419202A>C	ENST00000342929.3	-	7	2402	c.2403T>G	c.(2401-2403)atT>atG	p.I801M	NLRP13_ENST00000588751.1_Missense_Mutation_p.I801M	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	801							ATP binding (GO:0005524)	p.I801M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGCTTTAAGAATCAGGGGGA	0.493																																					p.I801M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2403G	19						.						131.0	118.0	123.0					19																	56419202		2203	4300	6503	61111014	SO:0001583	missense	126204	exon7			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2403T>G	19.37:g.56419202A>C	ENSP00000343891:p.Ile801Met		61111014	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	A	5.364	0.252449	0.10185	.	.	ENSG00000173572	ENST00000342929	T	0.56941	0.43	2.18	-4.35	0.03656	.	.	.	.	.	T	0.40670	0.1126	L	0.39898	1.24	0.09310	N	1	P	0.45348	0.856	B	0.43575	0.424	T	0.37798	-0.9690	9	0.66056	D	0.02	.	6.6016	0.22703	0.2256:0.1845:0.59:0.0	.	801	Q86W25	NAL13_HUMAN	M	801	ENSP00000343891:I801M	ENSP00000343891:I801M	I	-	3	3	NLRP13	61111014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.173000	0.01265	-1.490000	0.01842	-0.334000	0.08254	ATT		0.493	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NLRP13	126204	broad.mit.edu	37	19	56423611	56423611	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56423611C>A	ENST00000342929.3	-	5	1571	c.1572G>T	c.(1570-1572)aaG>aaT	p.K524N	NLRP13_ENST00000588751.1_Missense_Mutation_p.K524N	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	524	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.K524N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTCATTGATCTTTTGAAGAA	0.438																																					p.K524N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1572T	19						.						70.0	73.0	72.0					19																	56423611		2203	4300	6503	61115423	SO:0001583	missense	126204	exon5			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1572G>T	19.37:g.56423611C>A	ENSP00000343891:p.Lys524Asn		61115423	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570397	0.28003	.	.	ENSG00000173572	ENST00000342929	D	0.89270	-2.49	2.48	-4.6	0.03390	.	.	.	.	.	D	0.89996	0.6877	M	0.73598	2.24	0.09310	N	1	D	0.65815	0.995	P	0.59357	0.856	T	0.81640	-0.0841	9	0.54805	T	0.06	.	3.9552	0.09387	0.1797:0.4757:0.0:0.3447	.	524	Q86W25	NAL13_HUMAN	N	524	ENSP00000343891:K524N	ENSP00000343891:K524N	K	-	3	2	NLRP13	61115423	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.125000	0.15749	-1.050000	0.03230	-1.687000	0.00730	AAG		0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
NLRP13	126204	broad.mit.edu	37	19	56436023	56436023	+	Splice_Site	SNP	C	C	A	rs561628596		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56436023C>A	ENST00000342929.3	-	3	389	c.390G>T	c.(388-390)ggG>ggT	p.G130G	NLRP13_ENST00000588751.1_Splice_Site_p.G130G	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	130							ATP binding (GO:0005524)	p.G130G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTGCATATTCCCTGAAATAA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16333	0.0		0.0	False		,,,				2504	0.0				p.G130G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G390T	19						.						208.0	163.0	179.0					19																	56436023		2203	4300	6503	61127835	SO:0001630	splice_region_variant	126204	exon3			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.389-1G>T	19.37:g.56436023C>A			61127835	NM_176810	Q7RTR5	Silent	SNP	ENST00000342929.3	37	CCDS33119.1																																																																																				0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	Silent
NLRP8	126205	broad.mit.edu	37	19	56467356	56467356	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56467356G>A	ENST00000291971.3	+	3	2003	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	NLRP8_ENST00000590542.1_Silent_p.V644V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	644					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V644V(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AAGTTCAAGTGTCTGCTTTTT	0.458																																					p.V644V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1932A	19						.						141.0	131.0	135.0					19																	56467356		2203	4300	6503	61159168	SO:0001819	synonymous_variant	126205	exon3			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1932G>A	19.37:g.56467356G>A			61159168	NM_176811	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
NLRP5	126206	broad.mit.edu	37	19	56515268	56515268	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56515268A>G	ENST00000390649.3	+	2	249	c.249A>G	c.(247-249)ttA>ttG	p.L83L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	83	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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.L83L(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)		TCAAGGAATTACTAAAGAAGA	0.428																																					p.L83L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A249G	19						.						95.0	91.0	92.0					19																	56515268		1905	4128	6033	61207080	SO:0001819	synonymous_variant	126206	exon2			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.249A>G	19.37:g.56515268A>G			61207080	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.428	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NLRP5	126206	broad.mit.edu	37	19	56538691	56538691	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56538691C>T	ENST00000390649.3	+	7	1092	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	364	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.F364F(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)		TTGACGGTTTCGATGACCTGG	0.552																																					p.F364F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1092T	19						.						46.0	46.0	46.0					19																	56538691		2076	4215	6291	61230503	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.1092C>T	19.37:g.56538691C>T			61230503	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ACSBG2	81616	broad.mit.edu	37	19	6185583	6185583	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6185583G>A	ENST00000586696.1	+	11	1735	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	ACSBG2_ENST00000588485.1_Missense_Mutation_p.D300N|ACSBG2_ENST00000252669.5_Missense_Mutation_p.D487N|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.D437N|ACSBG2_ENST00000591403.1_Missense_Mutation_p.D487N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	487					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.D487N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGGCCATCGATGATGAAGG	0.552																																					p.D487N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1459A	19						.						160.0	147.0	151.0					19																	6185583		2203	4300	6503	6136583	SO:0001583	missense	81616	exon11				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1459G>A	19.37:g.6185583G>A	ENSP00000465589:p.Asp487Asn		6136583	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016685	0.75161	.	.	ENSG00000130377	ENST00000252669	T	0.12465	2.68	4.53	3.49	0.39957	AMP-dependent synthetase/ligase (1);	0.318982	0.22583	N	0.058188	T	0.41650	0.1168	M	0.88181	2.935	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	T	0.45323	-0.9269	10	0.87932	D	0	-29.3308	11.4245	0.50003	0.0899:0.0:0.9101:0.0	.	487;487	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	N	487	ENSP00000252669:D487N	ENSP00000252669:D487N	D	+	1	0	ACSBG2	6136583	1.000000	0.71417	0.002000	0.10522	0.003000	0.03518	7.565000	0.82337	0.912000	0.36772	-0.300000	0.09419	GAT		0.552	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
ACSBG2	81616	broad.mit.edu	37	19	6187386	6187386	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6187386T>C	ENST00000586696.1	+	12	1909	c.1633T>C	c.(1633-1635)Tta>Cta	p.L545L	RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000588485.1_Silent_p.L358L|ACSBG2_ENST00000252669.5_Silent_p.L545L|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Silent_p.L495L|ACSBG2_ENST00000591403.1_Silent_p.L545L			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	545					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.L545L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAACGCCATGTTAGTAGGAGA	0.478																																					p.L545L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1633C	19						.						130.0	117.0	121.0					19																	6187386		2203	4300	6503	6138386	SO:0001819	synonymous_variant	81616	exon12				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1633T>C	19.37:g.6187386T>C			6138386	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.478	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP5	126206	broad.mit.edu	37	19	56539418	56539418	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56539418C>A	ENST00000390649.3	+	7	1819	c.1819C>A	c.(1819-1821)Ctc>Atc	p.L607I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	607					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.L607I(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)		CGAGCCAGCTCTCTGCCCTCT	0.522																																					p.L607I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819A	19						.						66.0	66.0	66.0					19																	56539418		1971	4166	6137	61231230	SO:0001583	missense	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.1819C>A	19.37:g.56539418C>A	ENSP00000375063:p.Leu607Ile		61231230	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	4.004	-0.001885	0.07819	.	.	ENSG00000171487	ENST00000390649	T	0.73047	-0.71	2.85	0.524	0.17066	.	3.228080	0.01119	N	0.005750	T	0.60143	0.2246	L	0.36672	1.1	0.09310	N	1	P	0.40211	0.707	B	0.40565	0.333	T	0.45527	-0.9255	10	0.22706	T	0.39	.	3.3341	0.07094	0.0:0.5515:0.2699:0.1786	.	607	P59047	NALP5_HUMAN	I	607	ENSP00000375063:L607I	ENSP00000375063:L607I	L	+	1	0	NLRP5	61231230	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.213000	0.02991	0.189000	0.20188	0.462000	0.41574	CTC		0.522	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZSCAN5B	342933	broad.mit.edu	37	19	56701593	56701593	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56701593A>C	ENST00000586855.2	-	5	1404	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.F364C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	364					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.F364C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAATACTTAAATGATTTATT	0.547																																					p.F364C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1091G	19						.						72.0	75.0	74.0					19																	56701593		2185	4283	6468	61393405	SO:0001583	missense	342933	exon4				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1091T>G	19.37:g.56701593A>C	ENSP00000466072:p.Phe364Cys		61393405	NM_001080456		Missense_Mutation	SNP	ENST00000586855.2	37	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076799	0.36662	.	.	ENSG00000197213	ENST00000358992	T	0.14766	2.48	2.61	2.61	0.31194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37265	0.0997	M	0.82517	2.595	0.09310	N	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.05037	-1.0910	9	0.87932	D	0	.	9.0502	0.36372	1.0:0.0:0.0:0.0	.	364	A6NJL1	ZSA5B_HUMAN	C	364	ENSP00000351883:F364C	ENSP00000351883:F364C	F	-	2	0	ZSCAN5B	61393405	0.962000	0.33011	0.006000	0.13384	0.011000	0.07611	3.124000	0.50461	1.448000	0.47680	0.254000	0.18369	TTT		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456	
ZSCAN5A	79149	broad.mit.edu	37	19	56733256	56733256	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56733256G>T	ENST00000587340.1	-	7	1874	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.F276L|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F393L|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.F247L|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F392L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	393					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.F393L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAAGCTGCATGAAGCGCTTCC	0.502																																					p.F393L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1179A	19						.						66.0	64.0	65.0					19																	56733256		2203	4300	6503	61425068	SO:0001583	missense	79149	exon5			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1179C>A	19.37:g.56733256G>T	ENSP00000467631:p.Phe393Leu		61425068	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910190	0.52439	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.41065	1.01;1.01	2.83	0.614	0.17603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59824	0.2222	M	0.82056	2.57	0.33325	D	0.567824	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.66093	-0.6009	9	0.87932	D	0	.	6.0718	0.19893	0.3096:0.0:0.6904:0.0	.	276;393	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	L	393;276	ENSP00000375593:F393L;ENSP00000254165:F276L	ENSP00000254165:F276L	F	-	3	2	ZSCAN5A	61425068	0.964000	0.33143	0.013000	0.15412	0.019000	0.09904	1.998000	0.40796	0.495000	0.27882	0.561000	0.74099	TTC		0.502	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
ZSCAN5A	79149	broad.mit.edu	37	19	56734058	56734058	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56734058G>T	ENST00000587340.1	-	6	1336	c.641C>A	c.(640-642)tCt>tAt	p.S214Y	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S97Y|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S214Y|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S68Y|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S214Y			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	214					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.S214Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTCTCAGAGACTTTGGGTC	0.498																																					p.S214Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641A	19						.						211.0	175.0	187.0					19																	56734058		2203	4300	6503	61425870	SO:0001583	missense	79149	exon4			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.641C>A	19.37:g.56734058G>T	ENSP00000467631:p.Ser214Tyr		61425870	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	G	7.322	0.617077	0.14129	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06068	3.35;3.35	2.05	-3.32	0.04973	.	.	.	.	.	T	0.04227	0.0117	L	0.44542	1.39	0.09310	N	1	P;P	0.41748	0.761;0.641	B;B	0.35413	0.202;0.202	T	0.23583	-1.0184	9	0.72032	D	0.01	.	1.5805	0.02633	0.1932:0.2553:0.4021:0.1493	.	97;214	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	Y	214;97	ENSP00000375593:S214Y;ENSP00000254165:S97Y	ENSP00000254165:S97Y	S	-	2	0	ZSCAN5A	61425870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.394000	0.07296	-0.770000	0.04614	-1.157000	0.01802	TCT		0.498	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
ZNF582	147948	broad.mit.edu	37	19	56895841	56895841	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56895841T>C	ENST00000301310.4	-	5	1103	c.945A>G	c.(943-945)gaA>gaG	p.E315E	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.E315E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	315					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.E315E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTTCCCACATTCCTTGCATG	0.398																																					p.E315E	Ovarian(183;1887 2032 4349 30507 51343)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A945G	19						.						88.0	86.0	87.0					19																	56895841		2203	4300	6503	61587653	SO:0001819	synonymous_variant	147948	exon5			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.945A>G	19.37:g.56895841T>C			61587653	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	37	CCDS33121.1																																																																																				0.398	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF582	147948	broad.mit.edu	37	19	56901378	56901378	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56901378A>T	ENST00000301310.4	-	4	382	c.224T>A	c.(223-225)cTg>cAg	p.L75Q	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.L75Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L75Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACCTGGACACAGGCCTCCAGA	0.542																																					p.L75Q	Ovarian(183;1887 2032 4349 30507 51343)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T224A	19						.						105.0	90.0	95.0					19																	56901378		2203	4300	6503	61593190	SO:0001583	missense	147948	exon4			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.224T>A	19.37:g.56901378A>T	ENSP00000301310:p.Leu75Gln		61593190	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800016	0.31869	.	.	ENSG00000018869	ENST00000301310	T	0.06294	3.32	4.54	-9.09	0.00717	Krueppel-associated box (1);	.	.	.	.	T	0.02888	0.0086	N	0.20685	0.6	0.09310	N	1	B;B	0.15473	0.003;0.013	B;B	0.14578	0.011;0.011	T	0.42849	-0.9427	9	0.16420	T	0.52	.	5.9031	0.18978	0.3443:0.096:0.4652:0.0945	.	75;106	Q96NG8;B4DQZ9	ZN582_HUMAN;.	Q	75	ENSP00000301310:L75Q	ENSP00000301310:L75Q	L	-	2	0	ZNF582	61593190	0.000000	0.05858	0.000000	0.03702	0.667000	0.39255	-3.568000	0.00428	-2.017000	0.00944	0.533000	0.62120	CTG		0.542	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF583	147949	broad.mit.edu	37	19	56934722	56934722	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56934722G>T	ENST00000333201.9	+	5	905	c.695G>T	c.(694-696)aGa>aTa	p.R232I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R232I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	232					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.R232I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTCATCAGAGAATTCATACT	0.388																																					p.R232I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695T	19						.						45.0	50.0	48.0					19																	56934722		2203	4297	6500	61626534	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.695G>T	19.37:g.56934722G>T	ENSP00000388502:p.Arg232Ile		61626534	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692434	0.68271	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02446	4.29;4.29	4.43	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.05914	0.0154	L	0.45422	1.42	0.45704	D	0.998612	D	0.76494	0.999	D	0.67548	0.952	T	0.42258	-0.9462	9	.	.	.	.	5.611	0.17406	0.3784:0.1299:0.4917:0.0	.	232	Q96ND8	ZN583_HUMAN	I	232	ENSP00000291598:R232I;ENSP00000388502:R232I	.	R	+	2	0	ZNF583	61626534	0.000000	0.05858	0.052000	0.19188	0.995000	0.86356	-2.160000	0.01279	-0.175000	0.10725	0.462000	0.41574	AGA		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF583	147949	broad.mit.edu	37	19	56935000	56935000	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56935000G>A	ENST00000333201.9	+	5	1183	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	ZNF583_ENST00000291598.7_Missense_Mutation_p.E325K|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	325					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.E325K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GAGACCTTTCGAATGTATTGA	0.408																																					p.E325K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	19						.						109.0	117.0	115.0					19																	56935000		2203	4299	6502	61626812	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.973G>A	19.37:g.56935000G>A	ENSP00000388502:p.Glu325Lys		61626812	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243854	0.22796	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.06608	3.28;3.28	4.33	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000317	T	0.04724	0.0128	N	0.01824	-0.7	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.38887	-0.9640	9	.	.	.	.	3.0242	0.06085	0.1017:0.2385:0.5039:0.1559	.	325	Q96ND8	ZN583_HUMAN	K	325	ENSP00000291598:E325K;ENSP00000388502:E325K	.	E	+	1	0	ZNF583	61626812	0.000000	0.05858	0.037000	0.18230	0.989000	0.77384	-3.558000	0.00431	1.176000	0.42840	0.462000	0.41574	GAA		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF667	63934	broad.mit.edu	37	19	56952547	56952547	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56952547G>T	ENST00000504904.3	-	7	2536	c.1817C>A	c.(1816-1818)tCt>tAt	p.S606Y	ZNF667_ENST00000342634.3_Missense_Mutation_p.S734Y|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.S606Y			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	606					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.S606Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTTTTCTTCAGAATGTGTATT	0.338																																					p.S606Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1817A	19						.						87.0	87.0	87.0					19																	56952547		2203	4300	6503	61644359	SO:0001583	missense	63934	exon5				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1817C>A	19.37:g.56952547G>T	ENSP00000439402:p.Ser606Tyr		61644359	NM_022103	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353251	0.41700	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.05996	3.36;3.4;3.4	5.19	3.05	0.35203	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.791957	0.10736	N	0.640018	T	0.12603	0.0306	M	0.84433	2.695	0.09310	N	1	P;P	0.44578	0.838;0.736	B;B	0.41691	0.364;0.28	T	0.19712	-1.0297	10	0.87932	D	0	-0.0821	6.706	0.23250	0.0964:0.2005:0.7031:0.0	.	734;606	E7EPS0;Q5HYK9	.;ZN667_HUMAN	Y	734;606;606;388;321	ENSP00000344699:S734Y;ENSP00000439402:S606Y;ENSP00000292069:S606Y	ENSP00000292069:S606Y	S	-	2	0	ZNF667	61644359	.	.	0.007000	0.13788	0.969000	0.65631	.	.	0.753000	0.32945	0.563000	0.77884	TCT		0.338	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF471	57573	broad.mit.edu	37	19	57036281	57036281	+	Missense_Mutation	SNP	G	G	T	rs375659650		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57036281G>T	ENST00000308031.5	+	5	978	c.845G>T	c.(844-846)aGa>aTa	p.R282I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Nonsense_Mutation_p.E142*	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R282I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGCATCAAAGAATTCATACT	0.393																																					p.R282I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G845T	19						.	G	ILE/ARG	0,4406		0,0,2203	128.0	140.0	136.0		845	2.7	0.5	19		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF471	NM_020813.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	282/627	57036281	1,13005	2203	4300	6503	61728093	SO:0001583	missense	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.845G>T	19.37:g.57036281G>T	ENSP00000309161:p.Arg282Ile		61728093	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058668	0.55325	0.0	1.16E-4	ENSG00000196263	ENST00000308031	T	0.24908	1.83	3.71	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.66439	2.03	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.16719	-1.0393	9	0.49607	T	0.09	.	6.8525	0.24022	0.2199:0.0:0.7801:0.0	.	282	Q9BX82	ZN471_HUMAN	I	282	ENSP00000309161:R282I	ENSP00000309161:R282I	R	+	2	0	ZNF471	61728093	0.000000	0.05858	0.451000	0.26982	0.981000	0.71138	0.133000	0.15912	0.769000	0.33313	0.462000	0.41574	AGA		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZFP28	140612	broad.mit.edu	37	19	57065487	57065487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57065487G>T	ENST00000301318.3	+	8	1404	c.1333G>T	c.(1333-1335)Gag>Tag	p.E445*	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	445					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.E445*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TCACACTGGAGAGAAACCTTA	0.423																																					p.E445X	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1333T	19						.						55.0	58.0	57.0					19																	57065487		2203	4300	6503	61757299	SO:0001587	stop_gained	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1333G>T	19.37:g.57065487G>T	ENSP00000301318:p.Glu445*		61757299	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Nonsense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	36	5.822301	0.96989	.	.	ENSG00000196867	ENST00000301318	.	.	.	4.47	4.47	0.54385	.	0.000000	0.46758	D	0.000274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.9032	0.24295	0.19:0.0:0.81:0.0	.	.	.	.	X	445	.	ENSP00000301318:E445X	E	+	1	0	ZFP28	61757299	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.391000	0.97249	2.478000	0.83669	0.655000	0.94253	GAG		0.423	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZFP28	140612	broad.mit.edu	37	19	57065728	57065728	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57065728G>T	ENST00000301318.3	+	8	1645	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	525					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.R525I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAACACAGGAGAATTCATACT	0.428																																					p.R525I	Ovarian(124;554 1662 19430 21141 52494)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1574T	19						.						64.0	57.0	60.0					19																	57065728		2203	4300	6503	61757540	SO:0001583	missense	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1574G>T	19.37:g.57065728G>T	ENSP00000301318:p.Arg525Ile		61757540	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307618	0.60305	.	.	ENSG00000196867	ENST00000301318	T	0.24908	1.83	4.3	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000140	T	0.45796	0.1360	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.43540	-0.9385	10	0.72032	D	0.01	.	8.3256	0.32156	0.1688:0.0:0.8312:0.0	.	525	Q8NHY6	ZFP28_HUMAN	I	525	ENSP00000301318:R525I	ENSP00000301318:R525I	R	+	2	0	ZFP28	61757540	0.001000	0.12720	0.999000	0.59377	0.995000	0.86356	1.073000	0.30691	2.390000	0.81377	0.650000	0.86243	AGA		0.428	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZNF470	388566	broad.mit.edu	37	19	57088467	57088467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57088467G>T	ENST00000330619.8	+	6	1356	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.E224*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E224*(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGACCGTGGAGAAAAGAAACT	0.323																																					p.E224X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G670T	19						.						39.0	41.0	40.0					19																	57088467		2203	4297	6500	61780279	SO:0001587	stop_gained	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.670G>T	19.37:g.57088467G>T	ENSP00000333223:p.Glu224*		61780279	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Nonsense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	38	6.851305	0.97885	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.6665	0.45734	0.0:0.1959:0.8041:0.0	.	.	.	.	X	224	.	ENSP00000333223:E224X	E	+	1	0	ZNF470	61780279	0.037000	0.19845	0.736000	0.30914	0.256000	0.26092	1.929000	0.40114	1.946000	0.56461	0.305000	0.20034	GAA		0.323	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF470	388566	broad.mit.edu	37	19	57088645	57088645	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57088645C>A	ENST00000330619.8	+	6	1534	c.848C>A	c.(847-849)cCt>cAt	p.P283H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.P283H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P283H(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GGAGAAAAACCTTTTGAATGT	0.433																																					p.P283H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C848A	19						.						77.0	81.0	80.0					19																	57088645		2203	4300	6503	61780457	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.848C>A	19.37:g.57088645C>A	ENSP00000333223:p.Pro283His		61780457	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817911	0.71028	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.17528	2.27;2.27	3.8	3.8	0.43715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52386	0.1731	M	0.93507	3.425	0.29428	N	0.8601	D	0.89917	1.0	D	0.97110	1.0	T	0.58869	-0.7560	9	0.72032	D	0.01	.	14.5658	0.68176	0.0:1.0:0.0:0.0	.	283	Q6ECI4	ZN470_HUMAN	H	283	ENSP00000375590:P283H;ENSP00000333223:P283H	ENSP00000333223:P283H	P	+	2	0	ZNF470	61780457	0.996000	0.38824	0.988000	0.46212	0.987000	0.75469	4.346000	0.59367	1.964000	0.57103	0.460000	0.39030	CCT		0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF470	388566	broad.mit.edu	37	19	57088894	57088894	+	Missense_Mutation	SNP	G	G	T	rs375575481		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57088894G>T	ENST00000330619.8	+	6	1783	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R366I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	366					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.R366I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACTGGGAAAAGACCTTATGAA	0.428													-|||	1	0.000199681	0.0	0.0014	5008	,	,		22453	0.0		0.0	False		,,,				2504	0.0				p.R366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097T	19						.	A	ILE/ARG	1,4405		0,1,2202	89.0	84.0	86.0		1097	0.7	0.0	19		86	0,8600		0,0,4300	no	missense	ZNF470	NM_001001668.3	97	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	366/718	57088894	1,13005	2203	4300	6503	61780706	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1097G>T	19.37:g.57088894G>T	ENSP00000333223:p.Arg366Ile		61780706	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	10.22	1.291107	0.23564	2.27E-4	0.0	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.20332	2.08;2.08	4.19	0.665	0.17896	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42832	0.1220	M	0.82823	2.61	0.26140	N	0.980295	D	0.76494	0.999	D	0.74348	0.983	T	0.15867	-1.0422	9	0.87932	D	0	.	5.6174	0.17438	0.5771:0.0:0.4229:0.0	.	366	Q6ECI4	ZN470_HUMAN	I	366	ENSP00000375590:R366I;ENSP00000333223:R366I	ENSP00000333223:R366I	R	+	2	0	ZNF470	61780706	0.001000	0.12720	0.014000	0.15608	0.007000	0.05969	0.046000	0.14035	0.412000	0.25729	-0.175000	0.13238	AGA		0.428	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF835	90485	broad.mit.edu	37	19	57175816	57175816	+	Missense_Mutation	SNP	C	C	T	rs562824788		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57175816C>T	ENST00000537055.2	-	2	982	c.751G>A	c.(751-753)Gag>Aag	p.E251K		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E273K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCGGAGCACTCGTAGGGCTTC	0.692																																					p.E273K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	19						.						41.0	40.0	41.0					19																	57175816		2203	4300	6503	61867628	SO:0001583	missense	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.751G>A	19.37:g.57175816C>T	ENSP00000444747:p.Glu251Lys		61867628	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	9.260	1.042895	0.19748	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06608	3.28	1.83	0.782	0.18567	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.00869	-1.13	0.09310	N	1	P	0.37176	0.586	B	0.31812	0.136	T	0.39482	-0.9612	9	0.17832	T	0.49	.	3.9866	0.09519	0.0:0.6144:0.0:0.3856	.	273	Q9Y2P0	ZN835_HUMAN	K	273;251	ENSP00000444747:E251K	ENSP00000341756:E273K	E	-	1	0	ZNF835	61867628	0.000000	0.05858	0.001000	0.08648	0.647000	0.38526	-0.914000	0.04038	0.332000	0.23536	0.561000	0.74099	GAG		0.692	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
ZIM2	23619	broad.mit.edu	37	19	57286090	57286090	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57286090G>A	ENST00000391708.3	-	12	2092	c.1550C>T	c.(1549-1551)tCt>tTt	p.S517F	ZIM2_ENST00000599935.1_Missense_Mutation_p.S517F|ZIM2_ENST00000221722.5_Missense_Mutation_p.S517F|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.S517F|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.S517F	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S517F(1)|p.S517Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTTCTCTTGAGAATGGAGTTG	0.438																																					p.S517F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1550T	19						.						100.0	95.0	97.0					19																	57286090		2203	4300	6503	61977902	SO:0001583	missense	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1550C>T	19.37:g.57286090G>A	ENSP00000375589:p.Ser517Phe		61977902	NM_001146326	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346737	0.61073	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.16196	2.36;2.36	4.96	0.201	0.15186	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17662	0.0424	L	0.61036	1.89	.	.	.	B	0.09022	0.002	B	0.08055	0.003	T	0.11792	-1.0573	8	0.87932	D	0	.	8.3919	0.32533	0.3709:0.0:0.6291:0.0	.	517	Q9NZV7	ZIM2_HUMAN	F	517	ENSP00000375589:S517F;ENSP00000221722:S517F	ENSP00000221722:S517F	S	-	2	0	ZIM2	61977902	0.957000	0.32711	0.715000	0.30552	0.890000	0.51754	1.527000	0.35975	-0.103000	0.12175	-0.136000	0.14681	TCT		0.438	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
ZIM2	23619	broad.mit.edu	37	19	57286851	57286851	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57286851C>A	ENST00000391708.3	-	12	1331	c.789G>T	c.(787-789)gaG>gaT	p.E263D	ZIM2_ENST00000599935.1_Missense_Mutation_p.E263D|ZIM2_ENST00000221722.5_Missense_Mutation_p.E263D|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.E263D|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.E263D	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E263D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCAAAAGTTTCTCTTGGTTGC	0.463																																					p.E263D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G789T	19						.						102.0	94.0	97.0					19																	57286851		2203	4300	6503	61978663	SO:0001583	missense	23619	exon12			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.789G>T	19.37:g.57286851C>A	ENSP00000375589:p.Glu263Asp		61978663	NM_001146326	Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	9.211	1.030955	0.19590	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04862	3.54;3.54	3.94	2.59	0.31030	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	.	.	.	P	0.37781	0.608	B	0.35413	0.202	T	0.36016	-0.9765	8	0.18710	T	0.47	.	7.7356	0.28812	0.0:0.8273:0.0:0.1727	.	263	Q9NZV7	ZIM2_HUMAN	D	263	ENSP00000375589:E263D;ENSP00000221722:E263D	ENSP00000221722:E263D	E	-	3	2	ZIM2	61978663	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.140000	0.16056	0.914000	0.36822	0.655000	0.94253	GAG		0.463	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2		
PEG3	5178	broad.mit.edu	37	19	57325440	57325440	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57325440C>T	ENST00000326441.9	-	10	4733	c.4370G>A	c.(4369-4371)gGt>gAt	p.G1457D	PEG3_ENST00000423103.2_Missense_Mutation_p.G1457D|PEG3_ENST00000598410.1_Missense_Mutation_p.G1333D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1331D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1457	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G1457D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCTTCAATACCTGCACCATC	0.572																																					p.G1457D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4370A	19						.						107.0	97.0	100.0					19																	57325440		2203	4300	6503	62017252	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4370G>A	19.37:g.57325440C>T	ENSP00000326581:p.Gly1457Asp		62017252	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576445	0.65878	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02345	4.33;4.33	4.25	4.25	0.50352	.	0.000000	0.46145	D	0.000317	T	0.06325	0.0163	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.50693	-0.8798	9	0.12103	T	0.63	-39.6188	12.4664	0.55762	0.0:1.0:0.0:0.0	.	1333;1457;1392	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1457	ENSP00000326581:G1457D;ENSP00000403051:G1457D	ENSP00000326581:G1457D	G	-	2	0	ZIM2	62017252	0.000000	0.05858	0.514000	0.27761	0.779000	0.44077	0.246000	0.18160	2.657000	0.90304	0.650000	0.86243	GGT		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57326133	57326134	+	Nonsense_Mutation	DNP	CG	CG	TA			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57326133_57326134CG>TA	ENST00000326441.9	-	10	4039_4040	c.3676_3677CG>TA	c.(3676-3678)CGa>TAa	p.R1226*	PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1226					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R1226>?(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAAAGGCATCGAATGGCCGAC	0.5																																					.												.	.	2	Complex(2)	large_intestine(2)	c.3676_3677TA	19						.																																			62017946	SO:0001587	stop_gained	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3676_3677delinsTA	19.37:g.57326133_57326134delinsTA	ENSP00000326581:p.Arg1226*		62017945	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	DNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.500	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57326492	57326492	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57326492G>T	ENST00000326441.9	-	10	3681	c.3318C>A	c.(3316-3318)atC>atA	p.I1106I	PEG3_ENST00000423103.2_Silent_p.I1106I|PEG3_ENST00000598410.1_Silent_p.I982I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.I980I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1106					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I1106I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACATTCATAGATTTTGTCAT	0.522																																					p.I1106I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3318A	19						.						118.0	114.0	115.0					19																	57326492		2203	4300	6503	62018304	SO:0001819	synonymous_variant	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3318C>A	19.37:g.57326492G>T			62018304	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57326642	57326642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57326642C>A	ENST00000326441.9	-	10	3531	c.3168G>T	c.(3166-3168)gaG>gaT	p.E1056D	PEG3_ENST00000423103.2_Missense_Mutation_p.E1056D|PEG3_ENST00000598410.1_Missense_Mutation_p.E932D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E930D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1056					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E1056D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGAGACTTCTCTTGGTCAT	0.478																																					p.E1056D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3168T	19						.						142.0	128.0	133.0					19																	57326642		2203	4300	6503	62018454	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3168G>T	19.37:g.57326642C>A	ENSP00000326581:p.Glu1056Asp		62018454	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471293	0.43942	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02944	4.1;4.1	4.01	2.97	0.34412	.	0.000000	0.37348	N	0.002127	T	0.10809	0.0264	M	0.71581	2.175	.	.	.	D;D;D	0.76494	0.999;0.997;0.986	D;D;P	0.73380	0.98;0.978;0.643	T	0.05007	-1.0912	9	0.62326	D	0.03	.	7.9104	0.29787	0.0:0.8881:0.0:0.1119	.	932;1056;991	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1056	ENSP00000326581:E1056D;ENSP00000403051:E1056D	ENSP00000326581:E1056D	E	-	3	2	ZIM2	62018454	0.001000	0.12720	0.907000	0.35723	0.139000	0.21198	-0.069000	0.11542	1.285000	0.44548	0.655000	0.94253	GAG		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57327246	57327246	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57327246G>T	ENST00000326441.9	-	10	2927	c.2564C>A	c.(2563-2565)tCt>tAt	p.S855Y	PEG3_ENST00000423103.2_Missense_Mutation_p.S855Y|PEG3_ENST00000598410.1_Missense_Mutation_p.S731Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S729Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	855					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S855Y(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTCATTAGATTCCACCAA	0.438																																					p.S855Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2564A	19						.						108.0	102.0	104.0					19																	57327246		2203	4300	6503	62019058	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2564C>A	19.37:g.57327246G>T	ENSP00000326581:p.Ser855Tyr		62019058	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954012	0.53293	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	3.88	1.3	0.21679	.	0.532273	0.16207	N	0.224671	T	0.01870	0.0059	N	0.22421	0.69	.	.	.	B;P;B	0.38110	0.092;0.618;0.25	B;B;B	0.31016	0.024;0.123;0.07	T	0.39482	-0.9612	9	0.87932	D	0	-2.1892	5.6968	0.17861	0.0:0.6193:0.2256:0.155	.	731;855;790	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	855	ENSP00000326581:S855Y;ENSP00000403051:S855Y	ENSP00000326581:S855Y	S	-	2	0	ZIM2	62019058	0.000000	0.05858	0.002000	0.10522	0.784000	0.44337	0.740000	0.26188	0.396000	0.25283	-0.282000	0.10007	TCT		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
PEG3	5178	broad.mit.edu	37	19	57327485	57327485	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57327485C>A	ENST00000326441.9	-	10	2688	c.2325G>T	c.(2323-2325)gaG>gaT	p.E775D	PEG3_ENST00000423103.2_Missense_Mutation_p.E775D|PEG3_ENST00000598410.1_Missense_Mutation_p.E651D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E649D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	775					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E775D(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAACAGACCTCTCATATGATT	0.428																																					p.E775D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2325T	19						.						170.0	168.0	169.0					19																	57327485		2203	4300	6503	62019297	SO:0001583	missense	5178	exon7			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2325G>T	19.37:g.57327485C>A	ENSP00000326581:p.Glu775Asp		62019297	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622003	0.28889	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02812	4.15;4.15	4.11	1.99	0.26369	.	0.134498	0.34314	N	0.004073	T	0.11793	0.0287	M	0.82323	2.585	.	.	.	P;D;D	0.71674	0.816;0.998;0.994	B;D;P	0.74674	0.307;0.984;0.736	T	0.14200	-1.0481	9	0.28530	T	0.3	-28.6504	8.2302	0.31593	0.0:0.7993:0.0:0.2007	.	651;775;710	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	775	ENSP00000326581:E775D;ENSP00000403051:E775D	ENSP00000326581:E775D	E	-	3	2	ZIM2	62019297	0.059000	0.20769	0.076000	0.20297	0.152000	0.21847	0.375000	0.20518	0.695000	0.31675	0.585000	0.79938	GAG		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
USP29	57663	broad.mit.edu	37	19	57640286	57640286	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57640286C>A	ENST00000254181.4	+	4	697	c.243C>A	c.(241-243)ttC>ttA	p.F81L	USP29_ENST00000598197.1_Missense_Mutation_p.F81L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	81					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.F81L(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAACGTGTTCTTGTTTATTG	0.348																																					p.F81L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C243A	19						.						50.0	49.0	49.0					19																	57640286		2203	4300	6503	62332098	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.243C>A	19.37:g.57640286C>A	ENSP00000254181:p.Phe81Leu		62332098	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801786	0.31869	.	.	ENSG00000131864	ENST00000254181	T	0.51071	0.72	2.79	2.79	0.32731	.	1.327380	0.05735	U	0.600293	T	0.40839	0.1133	L	0.46157	1.445	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.34601	-0.9822	10	0.41790	T	0.15	0.0857	9.2721	0.37677	0.0:1.0:0.0:0.0	.	81	Q9HBJ7	UBP29_HUMAN	L	81	ENSP00000254181:F81L	ENSP00000254181:F81L	F	+	3	2	USP29	62332098	0.004000	0.15560	0.007000	0.13788	0.007000	0.05969	0.303000	0.19210	1.828000	0.53243	0.591000	0.81541	TTC		0.348	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
USP29	57663	broad.mit.edu	37	19	57641161	57641161	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57641161C>T	ENST00000254181.4	+	4	1572	c.1118C>T	c.(1117-1119)gCt>gTt	p.A373V	USP29_ENST00000598197.1_Missense_Mutation_p.A373V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	373	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A373V(1)|p.A373D(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAATGATGCTCATGAGTTT	0.353																																					p.A373V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1118T	19						.						56.0	57.0	56.0					19																	57641161		2203	4299	6502	62332973	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1118C>T	19.37:g.57641161C>T	ENSP00000254181:p.Ala373Val		62332973	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.627122	0.46840	.	.	ENSG00000131864	ENST00000254181	D	0.81579	-1.51	2.69	2.69	0.31865	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.44902	U	0.000413	D	0.86372	0.5917	M	0.62266	1.93	0.31449	N	0.671013	D	0.89917	1.0	D	0.97110	1.0	D	0.85839	0.1396	10	0.87932	D	0	-13.9409	11.5376	0.50648	0.0:1.0:0.0:0.0	.	373	Q9HBJ7	UBP29_HUMAN	V	373	ENSP00000254181:A373V	ENSP00000254181:A373V	A	+	2	0	USP29	62332973	0.998000	0.40836	0.895000	0.35142	0.174000	0.22865	3.208000	0.51114	1.767000	0.52121	0.591000	0.81541	GCT		0.353	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZIM3	114026	broad.mit.edu	37	19	57646651	57646651	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57646651C>T	ENST00000269834.1	-	5	1439	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D352N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTCATGATCGATGACATTG	0.383																																					p.D352N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1054A	19						.						166.0	163.0	164.0					19																	57646651		2203	4300	6503	62338463	SO:0001583	missense	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1054G>A	19.37:g.57646651C>T	ENSP00000269834:p.Asp352Asn		62338463	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149574	0.09185	.	.	ENSG00000141946	ENST00000269834	T	0.35973	1.28	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25269	0.0614	N	0.01576	-0.805	0.09310	N	1	D	0.67145	0.996	P	0.62560	0.904	T	0.20405	-1.0276	9	0.17369	T	0.5	.	10.7601	0.46259	0.0:1.0:0.0:0.0	.	352	Q96PE6	ZIM3_HUMAN	N	352	ENSP00000269834:D352N	ENSP00000269834:D352N	D	-	1	0	ZIM3	62338463	0.000000	0.05858	0.053000	0.19242	0.067000	0.16453	-1.106000	0.03319	1.400000	0.46741	0.313000	0.20887	GAT		0.383	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZIM3	114026	broad.mit.edu	37	19	57647330	57647330	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57647330T>G	ENST00000269834.1	-	5	760	c.375A>C	c.(373-375)aaA>aaC	p.K125N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	125					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.K125N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGAAGTATTTTCTTAGATC	0.388																																					p.K125N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A375C	19						.						227.0	219.0	221.0					19																	57647330		2203	4300	6503	62339142	SO:0001583	missense	114026	exon5			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.375A>C	19.37:g.57647330T>G	ENSP00000269834:p.Lys125Asn		62339142	NM_052882	Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	8.871	0.949333	0.18356	.	.	ENSG00000141946	ENST00000269834	T	0.04862	3.54	2.18	2.18	0.27775	.	.	.	.	.	T	0.04363	0.0120	N	0.20986	0.625	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.36601	-0.9741	9	0.54805	T	0.06	.	6.7915	0.23701	0.0:0.0:0.2369:0.7631	.	125	Q96PE6	ZIM3_HUMAN	N	125	ENSP00000269834:K125N	ENSP00000269834:K125N	K	-	3	2	ZIM3	62339142	0.000000	0.05858	0.011000	0.14972	0.120000	0.20174	-0.011000	0.12721	1.248000	0.43934	0.260000	0.18958	AAA		0.388	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZNF264	9422	broad.mit.edu	37	19	57723831	57723831	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57723831G>A	ENST00000263095.6	+	4	1780	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	ZNF264_ENST00000536056.1_Missense_Mutation_p.E456K	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E456K(1)|p.E456*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAAGCCTTTCGAGTGCAAAGA	0.517																																					p.E456K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1366A	19						.						55.0	57.0	56.0					19																	57723831		2203	4300	6503	62415643	SO:0001583	missense	9422	exon4			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1366G>A	19.37:g.57723831G>A	ENSP00000263095:p.Glu456Lys		62415643	NM_003417	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841078	0.16891	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.06608	3.28;3.28	2.35	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	N	0.00450	-1.49	0.09310	N	1	B	0.28850	0.225	B	0.31191	0.125	T	0.46020	-0.9221	9	0.18710	T	0.47	.	4.3259	0.11039	0.1349:0.0:0.6422:0.2228	.	456	O43296	ZN264_HUMAN	K	456	ENSP00000263095:E456K;ENSP00000440376:E456K	ENSP00000263095:E456K	E	+	1	0	ZNF264	62415643	0.000000	0.05858	0.807000	0.32361	0.772000	0.43724	-1.148000	0.03185	0.563000	0.29222	0.491000	0.48974	GAG		0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
AURKC	6795	broad.mit.edu	37	19	57743431	57743431	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57743431C>T	ENST00000302804.7	+	3	321	c.135C>T	c.(133-135)atC>atT	p.I45I	AURKC_ENST00000598785.1_Silent_p.I11I|AURKC_ENST00000599062.1_Silent_p.I42I|AURKC_ENST00000415300.2_Silent_p.I26I|AURKC_ENST00000448930.1_Silent_p.I11I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.I45I(2)|p.I11I(2)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTTGAAATCGGGCGTCCCC	0.552																																					p.I11I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C33T	19						.						52.0	48.0	50.0					19																	57743431		2203	4300	6503	62435243	SO:0001819	synonymous_variant	6795	exon3				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.135C>T	19.37:g.57743431C>T			62435243	NM_003160	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	CCDS33128.1																																																																																				0.552	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
AURKC	6795	broad.mit.edu	37	19	57746297	57746297	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57746297G>T	ENST00000302804.7	+	6	816	c.630G>T	c.(628-630)atG>atT	p.M210I	AURKC_ENST00000598785.1_Missense_Mutation_p.M176I|AURKC_ENST00000599062.1_Missense_Mutation_p.M207I|AURKC_ENST00000415300.2_Missense_Mutation_p.M191I|AURKC_ENST00000448930.1_Missense_Mutation_p.M176I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.M176I(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGCCAGAAATGATTGAGGGGA	0.507																																					p.M176I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G528T	19						.						143.0	117.0	126.0					19																	57746297		2203	4300	6503	62438109	SO:0001583	missense	6795	exon6				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.630G>T	19.37:g.57746297G>T	ENSP00000302898:p.Met210Ile		62438109	NM_003160	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896654	0.33535	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.62364	0.03;0.03;0.03	4.09	1.92	0.25849	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076845	0.85682	N	0.000000	T	0.35189	0.0923	N	0.01631	-0.79	0.50813	D	0.999895	B;B;B	0.28378	0.072;0.157;0.209	B;B;B	0.37267	0.245;0.115;0.16	T	0.26916	-1.0089	10	0.66056	D	0.02	-33.7327	7.4897	0.27454	0.0959:0.1695:0.7346:0.0	.	207;210;191	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	I	191;176;210	ENSP00000407162:M191I;ENSP00000406798:M176I;ENSP00000302898:M210I	ENSP00000302898:M210I	M	+	3	0	AURKC	62438109	1.000000	0.71417	0.660000	0.29694	0.522000	0.34438	5.197000	0.65141	0.663000	0.31027	0.655000	0.94253	ATG		0.507	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ZNF460	10794	broad.mit.edu	37	19	57802833	57802833	+	Silent	SNP	C	C	T	rs368085632		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57802833C>T	ENST00000360338.3	+	3	1246	c.924C>T	c.(922-924)ttC>ttT	p.F308F	ZNF460_ENST00000537645.1_Silent_p.F267F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F308F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAACCCTTCGCATGCAGCG	0.458																																					p.F308F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	19						.	C		0,4406		0,0,2203	102.0	90.0	94.0		924	-2.2	0.0	19		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF460	NM_006635.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		308/563	57802833	1,13005	2203	4300	6503	62494645	SO:0001819	synonymous_variant	10794	exon3			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.924C>T	19.37:g.57802833C>T			62494645	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	CCDS12949.1																																																																																				0.458	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635	
ZNF547	284306	broad.mit.edu	37	19	57889375	57889375	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57889375G>T	ENST00000282282.3	+	4	1181	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R344I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACACCAAAGAGTTCACACT	0.463																																					p.R344I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031T	19						.						96.0	90.0	92.0					19																	57889375		2203	4300	6503	62581187	SO:0001583	missense	284306	exon4			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.1031G>T	19.37:g.57889375G>T	ENSP00000282282:p.Arg344Ile		62581187	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509180	0.64410	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.24908	1.83	1.87	-3.73	0.04398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37865	0.1019	M	0.73430	2.235	0.19945	N	0.999946	D;P;P	0.62365	0.991;0.931;0.935	P;B;P	0.59643	0.861;0.378;0.508	T	0.24119	-1.0169	9	0.56958	D	0.05	.	4.9401	0.13961	0.512:0.1602:0.3278:0.0	.	344;344;344	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	I	344	ENSP00000282282:R344I	ENSP00000282282:R344I	R	+	2	0	ZNF547	62581187	0.000000	0.05858	0.000000	0.03702	0.961000	0.63080	-2.477000	0.00985	-0.977000	0.03537	0.491000	0.48974	AGA		0.463	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
ACER1	125981	broad.mit.edu	37	19	6309769	6309769	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6309769C>T	ENST00000301452.4	-	4	504	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	143					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.A143T(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGGGCGTAGGCGTTGACCGTG	0.607																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	19						.						148.0	108.0	122.0					19																	6309769		2203	4300	6503	6260769	SO:0001583	missense	125981	exon4			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.427G>A	19.37:g.6309769C>T	ENSP00000301452:p.Ala143Thr		6260769	NM_133492		Missense_Mutation	SNP	ENST00000301452.4	37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130218	0.77549	.	.	ENSG00000167769	ENST00000301452	T	0.46063	0.88	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.72462	-0.4286	10	0.59425	D	0.04	-10.5348	14.6637	0.68891	0.0:1.0:0.0:0.0	.	143	Q8TDN7	ACER1_HUMAN	T	143	ENSP00000301452:A143T	ENSP00000301452:A143T	A	-	1	0	ACER1	6260769	1.000000	0.71417	0.382000	0.26119	0.618000	0.37518	5.029000	0.64121	2.059000	0.61396	0.542000	0.68232	GCC		0.607	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	
ZNF548	147694	broad.mit.edu	37	19	57910407	57910407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57910407G>T	ENST00000366197.5	+	3	1002	c.752G>T	c.(751-753)aGg>aTg	p.R251M	ZNF548_ENST00000336128.7_Missense_Mutation_p.R263M|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R263M(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTAGTGAAAGGACTTATGAG	0.398																																					p.R251M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752T	19						.						45.0	46.0	45.0					19																	57910407		2195	4294	6489	62602219	SO:0001583	missense	147694	exon3			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.752G>T	19.37:g.57910407G>T	ENSP00000379482:p.Arg251Met		62602219	NM_152909	Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957893	0.53400	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.20332	2.08;2.08	2.28	2.28	0.28536	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	M	0.87971	2.92	0.24484	N	0.994333	D;D	0.67145	0.995;0.996	P;P	0.59825	0.785;0.864	T	0.25047	-1.0143	9	0.62326	D	0.03	.	4.0389	0.09741	0.3053:0.0:0.6946:0.0	.	263;251	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	M	263;251	ENSP00000337555:R263M;ENSP00000379482:R251M	ENSP00000337555:R263M	R	+	2	0	ZNF548	62602219	0.000000	0.05858	0.822000	0.32727	0.965000	0.64279	-0.586000	0.05787	1.628000	0.50416	0.655000	0.94253	AGG		0.398	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909	
ZNF772	400720	broad.mit.edu	37	19	57984676	57984676	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57984676C>T	ENST00000343280.4	-	5	1696	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.R367H|ZNF772_ENST00000356584.3_Missense_Mutation_p.R438H|ZNF772_ENST00000425074.3_3'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	479					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.R479H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTTCCAGTGGCGGATGAGGGA	0.448																																					p.R479H	Melanoma(5;289 436 14293 15924 30817)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	19						.						67.0	59.0	62.0					19																	57984676		2203	4300	6503	62676488	SO:0001583	missense	400720	exon5			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1436G>A	19.37:g.57984676C>T	ENSP00000341165:p.Arg479His		62676488	NM_001024596	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098874	0.37048	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.07688	3.17;3.17;3.17	3.96	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19846	0.0477	M	0.66439	2.03	0.09310	N	1	D;D;D	0.76494	0.992;0.987;0.999	P;P;D	0.76071	0.821;0.666;0.987	T	0.10941	-1.0608	9	0.54805	T	0.06	.	2.6213	0.04917	0.2307:0.5083:0.0:0.2611	.	367;438;479	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	479;367;438;404	ENSP00000341165:R479H;ENSP00000395967:R367H;ENSP00000348992:R438H	ENSP00000291809:R404H	R	-	2	0	ZNF772	62676488	0.000000	0.05858	0.221000	0.23827	0.572000	0.35998	-2.261000	0.01176	0.892000	0.36259	0.289000	0.19496	CGC		0.448	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596	
ZNF419	79744	broad.mit.edu	37	19	58004477	58004477	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58004477G>T	ENST00000221735.7	+	5	738	c.552G>T	c.(550-552)gaG>gaT	p.E184D	ZNF419_ENST00000415379.2_Missense_Mutation_p.E138D|ZNF419_ENST00000347466.6_Missense_Mutation_p.E152D|ZNF419_ENST00000426954.2_Missense_Mutation_p.E172D|ZNF419_ENST00000354197.4_Missense_Mutation_p.E172D|ZNF419_ENST00000424930.2_Missense_Mutation_p.E185D|ZNF419_ENST00000442920.2_Missense_Mutation_p.E171D|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	184					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.E152D(1)|p.E187D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		ACACAGGAGAGAAGTCACATA	0.478																																					p.E152D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G456T	19						.						42.0	44.0	43.0					19																	58004477		2203	4300	6503	62696289	SO:0001583	missense	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.552G>T	19.37:g.58004477G>T	ENSP00000221735:p.Glu184Asp		62696289	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355034	0.24512	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735;ENST00000521137	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	2.28	-3.46	0.04767	.	.	.	.	.	T	0.27967	0.0689	M	0.70275	2.135	0.09310	N	1	B;B;B;B;B;B;B	0.30889	0.012;0.012;0.03;0.012;0.0;0.023;0.299	B;B;B;B;B;B;P	0.44623	0.007;0.011;0.016;0.007;0.0;0.024;0.455	T	0.51865	-0.8651	9	0.62326	D	0.03	.	3.5302	0.07774	0.6229:0.0:0.2038:0.1734	.	138;138;171;172;185;152;184	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	D	187;185;172;172;171;185;152;138;184;151	ENSP00000388864:E185D;ENSP00000390916:E172D;ENSP00000346136:E172D;ENSP00000414709:E171D;ENSP00000299860:E152D;ENSP00000392129:E138D;ENSP00000221735:E184D;ENSP00000429628:E151D	ENSP00000221735:E184D	E	+	3	2	ZNF419	62696289	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.294000	0.08309	-0.869000	0.04052	0.205000	0.17691	GAG		0.478	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF419	79744	broad.mit.edu	37	19	58004955	58004955	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58004955A>C	ENST00000221735.7	+	5	1216	c.1030A>C	c.(1030-1032)Aag>Cag	p.K344Q	ZNF419_ENST00000415379.2_Missense_Mutation_p.K298Q|ZNF419_ENST00000347466.6_Missense_Mutation_p.K312Q|ZNF419_ENST00000426954.2_Missense_Mutation_p.K332Q|ZNF419_ENST00000354197.4_Missense_Mutation_p.K332Q|ZNF419_ENST00000424930.2_Missense_Mutation_p.K345Q|ZNF419_ENST00000442920.2_Missense_Mutation_p.K331Q|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K319Q(1)|p.K312Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAGACCTTATAAGTGCAGTGA	0.423																																					p.K312Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A934C	19						.						69.0	71.0	70.0					19																	58004955		2203	4300	6503	62696767	SO:0001583	missense	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1030A>C	19.37:g.58004955A>C	ENSP00000221735:p.Lys344Gln		62696767	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	A	9.210	1.030793	0.19590	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.18810	3.1;3.1;3.1;3.1;3.1;2.19;3.1	2.36	-2.45	0.06481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B;B;B	0.22983	0.005;0.002;0.006;0.078;0.005;0.002;0.005	B;B;B;B;B;B;B	0.18561	0.001;0.001;0.003;0.022;0.002;0.001;0.002	T	0.27434	-1.0074	9	0.54805	T	0.06	.	3.0978	0.06315	0.1951:0.1578:0.4917:0.1555	.	298;298;331;332;345;312;344	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	Q	319;345;332;332;331;345;312;298;344	ENSP00000388864:K345Q;ENSP00000390916:K332Q;ENSP00000346136:K332Q;ENSP00000414709:K331Q;ENSP00000299860:K312Q;ENSP00000392129:K298Q;ENSP00000221735:K344Q	ENSP00000221735:K344Q	K	+	1	0	ZNF419	62696767	0.000000	0.05858	0.028000	0.17463	0.866000	0.49608	-4.228000	0.00270	-0.617000	0.05664	0.172000	0.16884	AAG		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF419	79744	broad.mit.edu	37	19	58005122	58005122	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58005122T>G	ENST00000221735.7	+	5	1383	c.1197T>G	c.(1195-1197)ttT>ttG	p.F399L	ZNF419_ENST00000415379.2_Missense_Mutation_p.F353L|ZNF419_ENST00000347466.6_Missense_Mutation_p.F367L|ZNF419_ENST00000426954.2_Missense_Mutation_p.F387L|ZNF419_ENST00000354197.4_Missense_Mutation_p.F387L|ZNF419_ENST00000424930.2_Missense_Mutation_p.F400L|ZNF419_ENST00000442920.2_Missense_Mutation_p.F386L|AC003005.4_ENST00000601674.1_Intron			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	399					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.F367L(1)|p.F374L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAAAGCCTTTTAAGTGCAATG	0.443																																					p.F367L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1101G	19						.						88.0	92.0	91.0					19																	58005122		2201	4300	6501	62696934	SO:0001583	missense	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1197T>G	19.37:g.58005122T>G	ENSP00000221735:p.Phe399Leu		62696934	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.680762	0.47886	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	2.19	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20129	0.0484	L	0.49778	1.585	0.09310	N	1	B;B;P;B;P;B;P	0.38827	0.245;0.245;0.454;0.245;0.649;0.4;0.649	B;B;B;B;B;B;B	0.40602	0.184;0.184;0.334;0.253;0.157;0.173;0.157	T	0.17198	-1.0377	9	0.87932	D	0	.	5.346	0.16010	0.0:0.1564:0.0:0.8436	.	353;353;386;387;400;367;399	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	L	374;400;387;387;386;400;367;353;399	ENSP00000388864:F400L;ENSP00000390916:F387L;ENSP00000346136:F387L;ENSP00000414709:F386L;ENSP00000299860:F367L;ENSP00000392129:F353L;ENSP00000221735:F399L	ENSP00000221735:F399L	F	+	3	2	ZNF419	62696934	0.000000	0.05858	0.002000	0.10522	0.324000	0.28378	-0.874000	0.04210	0.988000	0.38734	0.172000	0.16884	TTT		0.443	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF773	374928	broad.mit.edu	37	19	58017811	58017811	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58017811G>T	ENST00000282292.4	+	4	488	c.348G>T	c.(346-348)caG>caT	p.Q116H	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.Q115H|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	116					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.Q116H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGCAACACCAGAAGCAGCACT	0.502																																					p.Q116H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	19						.						90.0	92.0	91.0					19																	58017811		2203	4300	6503	62709623	SO:0001583	missense	374928	exon4			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.348G>T	19.37:g.58017811G>T	ENSP00000282292:p.Gln116His		62709623	NM_198542	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632434	0.46944	.	.	ENSG00000152439	ENST00000282292	T	0.06849	3.25	1.18	1.18	0.20946	.	.	.	.	.	T	0.16041	0.0386	L	0.45285	1.41	0.24162	N	0.99565	D;P	0.59357	0.985;0.93	P;P	0.61940	0.896;0.459	T	0.10222	-1.0639	9	0.56958	D	0.05	.	8.2465	0.31691	0.0:0.0:1.0:0.0	.	115;116	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	H	116	ENSP00000282292:Q116H	ENSP00000282292:Q116H	Q	+	3	2	ZNF773	62709623	0.001000	0.12720	0.007000	0.13788	0.536000	0.34869	0.401000	0.20948	0.950000	0.37743	0.313000	0.20887	CAG		0.502	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
ZNF773	374928	broad.mit.edu	37	19	58018529	58018529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58018529G>T	ENST00000282292.4	+	4	1206	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Nonsense_Mutation_p.E355*|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	356					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.E356*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCACACTGGAGAAAGGCCTTA	0.418																																					p.E356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1066T	19						.						107.0	110.0	109.0					19																	58018529		2203	4300	6503	62710341	SO:0001587	stop_gained	374928	exon4			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1066G>T	19.37:g.58018529G>T	ENSP00000282292:p.Glu356*		62710341	NM_198542	Q96DL8	Nonsense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862521	0.91511	.	.	ENSG00000152439	ENST00000282292	.	.	.	1.24	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.0353	0.42125	0.0:0.0:1.0:0.0	.	.	.	.	X	356	.	ENSP00000282292:E356X	E	+	1	0	ZNF773	62710341	0.990000	0.36364	0.010000	0.14722	0.821000	0.46438	4.329000	0.59260	0.987000	0.38709	0.305000	0.20034	GAA		0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
ZNF773	374928	broad.mit.edu	37	19	58018596	58018596	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58018596G>A	ENST00000282292.4	+	4	1273	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R377Q|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R378Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGCAACATCGAAAAGTTCAC	0.418																																					p.R378Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1133A	19						.						111.0	114.0	113.0					19																	58018596		2203	4300	6503	62710408	SO:0001583	missense	374928	exon4			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1133G>A	19.37:g.58018596G>A	ENSP00000282292:p.Arg378Gln		62710408	NM_198542	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.789508	0.00623	.	.	ENSG00000152439	ENST00000282292	T	0.17691	2.26	1.03	-0.0823	0.13698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.04043	-0.29	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.06405	0.002;0.002	T	0.40136	-0.9579	9	0.02654	T	1	.	1.8888	0.03243	0.3967:0.0:0.3328:0.2705	.	377;378	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	378	ENSP00000282292:R378Q	ENSP00000282292:R378Q	R	+	2	0	ZNF773	62710408	0.000000	0.05858	0.276000	0.24689	0.841000	0.47740	-1.620000	0.02046	-0.002000	0.14469	0.305000	0.20034	CGA		0.418	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
ZNF549	256051	broad.mit.edu	37	19	58046547	58046547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58046547C>A	ENST00000376233.3	+	3	289	c.108C>A	c.(106-108)ttC>ttA	p.F36L	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F23L|ZNF549_ENST00000602149.1_Missense_Mutation_p.F36L	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F23L(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTGTGTACTTCTCCCAGGAGG	0.502																																					p.F36L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C108A	19						.						170.0	138.0	149.0					19																	58046547		2203	4300	6503	62738359	SO:0001583	missense	256051	exon3			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.108C>A	19.37:g.58046547C>A	ENSP00000365407:p.Phe36Leu		62738359	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541807	0.65198	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.12879	2.64;2.64	2.58	1.5	0.22942	Krueppel-associated box (4);	.	.	.	.	T	0.37999	0.1024	M	0.89904	3.07	0.24096	N	0.995891	D;D	0.59357	0.985;0.981	P;D	0.65684	0.849;0.937	T	0.09662	-1.0664	9	0.62326	D	0.03	.	7.2421	0.26102	0.0:0.8545:0.0:0.1455	.	36;23	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	L	23;36	ENSP00000240719:F23L;ENSP00000365407:F36L	ENSP00000240719:F23L	F	+	3	2	ZNF549	62738359	0.665000	0.27466	0.908000	0.35775	0.998000	0.95712	0.887000	0.28254	0.420000	0.25954	0.655000	0.94253	TTC		0.502	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF549	256051	broad.mit.edu	37	19	58048826	58048826	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58048826A>G	ENST00000376233.3	+	4	635	c.454A>G	c.(454-456)Aac>Gac	p.N152D	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.N139D|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	152					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.N139D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGCACCAGAACCAGGACAG	0.483																																					p.N152D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454G	19						.						86.0	77.0	80.0					19																	58048826		2203	4300	6503	62740638	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.454A>G	19.37:g.58048826A>G	ENSP00000365407:p.Asn152Asp		62740638	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	A	9.110	1.006367	0.19199	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.06142	3.36;3.34	2.03	-0.357	0.12579	.	.	.	.	.	T	0.04952	0.0133	L	0.27053	0.805	0.09310	N	1	B;P	0.37548	0.043;0.599	B;B	0.40901	0.033;0.343	T	0.36529	-0.9744	9	0.62326	D	0.03	.	2.2566	0.04057	0.3878:0.0:0.1548:0.4574	.	152;139	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	D	139;152	ENSP00000240719:N139D;ENSP00000365407:N152D	ENSP00000240719:N139D	N	+	1	0	ZNF549	62740638	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.338000	0.19858	-0.173000	0.10761	0.459000	0.35465	AAC		0.483	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF549	256051	broad.mit.edu	37	19	58049294	58049294	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58049294G>A	ENST00000376233.3	+	4	1103	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E295K|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E295K(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGTGCATCGAATGTGGGAA	0.413																																					p.E308K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	19						.						103.0	101.0	102.0					19																	58049294		2203	4300	6503	62741106	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.922G>A	19.37:g.58049294G>A	ENSP00000365407:p.Glu308Lys		62741106	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741549	0.15642	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.07327	3.2;3.2	2.6	0.707	0.18139	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	L	0.39633	1.23	0.09310	N	1	P;D	0.53462	0.497;0.96	B;P	0.47915	0.023;0.561	T	0.25882	-1.0119	9	0.49607	T	0.09	.	7.9332	0.29914	0.1793:0.0:0.8207:0.0	.	308;295	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	295;308	ENSP00000240719:E295K;ENSP00000365407:E308K	ENSP00000240719:E295K	E	+	1	0	ZNF549	62741106	0.000000	0.05858	0.228000	0.23943	0.224000	0.24922	-1.725000	0.01863	0.254000	0.21573	0.585000	0.79938	GAA		0.413	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF549	256051	broad.mit.edu	37	19	58049982	58049982	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58049982T>C	ENST00000376233.3	+	4	1791	c.1610T>C	c.(1609-1611)gTc>gCc	p.V537A	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.V524A|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	537					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.V524A(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGAAAAGTCTTCAGCCAC	0.438																																					p.V537A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1610C	19						.						68.0	70.0	69.0					19																	58049982		2203	4300	6503	62741794	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1610T>C	19.37:g.58049982T>C	ENSP00000365407:p.Val537Ala		62741794	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	2.495	-0.316613	0.05422	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.10005	2.92;2.92	2.6	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00656	-1.285	0.09310	N	1	B;B	0.15719	0.0;0.014	B;B	0.15484	0.0;0.013	T	0.38735	-0.9647	9	0.02654	T	1	.	4.1076	0.10043	0.0:0.4153:0.1745:0.4102	.	537;524	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	A	524;537	ENSP00000240719:V524A;ENSP00000365407:V537A	ENSP00000240719:V524A	V	+	2	0	ZNF549	62741794	0.000000	0.05858	0.001000	0.08648	0.851000	0.48451	-0.022000	0.12480	-0.947000	0.03673	-0.472000	0.04984	GTC		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF549	256051	broad.mit.edu	37	19	58050186	58050186	+	Missense_Mutation	SNP	G	G	A	rs534903585		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58050186G>A	ENST00000376233.3	+	4	1995	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R592Q|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	605					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.R592Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCATCAGCGAATCCACACC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20218	0.0		0.0	False		,,,				2504	0.0				p.R605Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1814A	19						.						79.0	69.0	72.0					19																	58050186		2203	4300	6503	62741998	SO:0001583	missense	256051	exon4			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1814G>A	19.37:g.58050186G>A	ENSP00000365407:p.Arg605Gln		62741998	NM_001199295	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239612	0.79800	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.24723	1.84;1.84	2.35	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32793	0.0841	L	0.33137	0.985	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.64877	0.93;0.888	T	0.11036	-1.0604	9	0.72032	D	0.01	.	6.8879	0.24212	0.1558:0.0:0.8442:0.0	.	605;592	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	Q	592;605	ENSP00000240719:R592Q;ENSP00000365407:R605Q	ENSP00000240719:R592Q	R	+	2	0	ZNF549	62741998	0.000000	0.05858	0.001000	0.08648	0.895000	0.52256	-0.794000	0.04584	0.326000	0.23384	0.585000	0.79938	CGA		0.423	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263	
ZNF416	55659	broad.mit.edu	37	19	58087211	58087211	+	Missense_Mutation	SNP	C	C	T	rs570790847		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58087211C>T	ENST00000196489.3	-	3	385	c.163G>A	c.(163-165)Gat>Aat	p.D55N		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D55N(1)|p.D55H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		AGCATCACATCGCGGTACAGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20797	0.0		0.0	False		,,,				2504	0.001				p.D55N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G163A	19						.						195.0	172.0	180.0					19																	58087211		2203	4300	6503	62779023	SO:0001583	missense	55659	exon3			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.163G>A	19.37:g.58087211C>T	ENSP00000196489:p.Asp55Asn		62779023	NM_017879	Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149275	0.57151	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.02498	4.27	3.66	-1.36	0.09085	Krueppel-associated box (4);	.	.	.	.	T	0.05640	0.0148	M	0.74467	2.265	0.09310	N	1	D	0.53745	0.962	P	0.47864	0.559	T	0.27468	-1.0073	9	0.37606	T	0.19	.	5.9177	0.19063	0.0:0.3351:0.4683:0.1966	.	55	Q9BWM5	ZN416_HUMAN	N	55;41;35	ENSP00000196489:D55N	ENSP00000196489:D55N	D	-	1	0	ZNF416	62779023	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-0.773000	0.04689	-0.237000	0.09739	0.655000	0.94253	GAT		0.547	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
ZIK1	284307	broad.mit.edu	37	19	58101755	58101755	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58101755G>T	ENST00000597850.1	+	4	791	c.576G>T	c.(574-576)aaG>aaT	p.K192N	ZIK1_ENST00000536878.2_Missense_Mutation_p.K179N|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K137N	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	192					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.K192N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGGAGGCAAGAAACCCGGCA	0.493																																					p.K192N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G576T	19						.						69.0	70.0	70.0					19																	58101755		2203	4300	6503	62793567	SO:0001583	missense	284307	exon4			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.576G>T	19.37:g.58101755G>T	ENSP00000472867:p.Lys192Asn		62793567	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307656	0.23821	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05447	3.44	2.88	2.88	0.33553	.	.	.	.	.	T	0.08088	0.0202	L	0.49126	1.545	0.09310	N	1	B;B	0.19817	0.039;0.011	B;B	0.23150	0.044;0.014	T	0.14727	-1.0462	9	0.72032	D	0.01	.	9.4658	0.38811	0.0:0.0:1.0:0.0	.	179;192	F5H435;Q3SY52	.;ZIK1_HUMAN	N	179;173;192	ENSP00000438487:K179N	ENSP00000303820:K192N	K	+	3	2	ZIK1	62793567	0.002000	0.14202	0.012000	0.15200	0.002000	0.02628	0.654000	0.24918	1.918000	0.55548	0.555000	0.69702	AAG		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZNF530	348327	broad.mit.edu	37	19	58117301	58117301	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58117301C>A	ENST00000332854.6	+	3	628	c.408C>A	c.(406-408)ctC>ctA	p.L136L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	136					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.L136L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCACCAGCTCCAGAAGCTTG	0.453																																					p.L136L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408A	19						.						52.0	55.0	54.0					19																	58117301		2203	4300	6503	62809113	SO:0001819	synonymous_variant	348327	exon3			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.408C>A	19.37:g.58117301C>A			62809113	NM_020880	O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	CCDS12955.1																																																																																				0.453	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZNF530	348327	broad.mit.edu	37	19	58118544	58118544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58118544G>T	ENST00000332854.6	+	3	1871	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	551					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.E551*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGTGCAGAGAATGTGGGAA	0.448																																					p.E551X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1651T	19						.						73.0	73.0	73.0					19																	58118544		2203	4300	6503	62810356	SO:0001587	stop_gained	348327	exon3			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1651G>T	19.37:g.58118544G>T	ENSP00000332861:p.Glu551*		62810356	NM_020880	O43340|Q9P220	Nonsense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681331	0.88542	.	.	ENSG00000183647	ENST00000332854	.	.	.	2.48	-0.236	0.13067	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999903	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.4919	0.38965	0.0:0.0:0.6339:0.3661	.	.	.	.	X	551	.	ENSP00000332861:E551X	E	+	1	0	ZNF530	62810356	0.000000	0.05858	0.070000	0.20053	0.062000	0.15995	-1.735000	0.01847	0.342000	0.23796	0.543000	0.68304	GAA		0.448	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZSCAN4	201516	broad.mit.edu	37	19	58189969	58189969	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58189969G>T	ENST00000318203.5	+	5	1695	c.998G>T	c.(997-999)aGa>aTa	p.R333I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	333					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R333I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACCAGAGAAGACACAGGAAT	0.428																																					p.R333I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998T	19						.						81.0	80.0	80.0					19																	58189969		2203	4300	6503	62881781	SO:0001583	missense	201516	exon5			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.998G>T	19.37:g.58189969G>T	ENSP00000321963:p.Arg333Ile		62881781	NM_152677	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523938	0.44866	.	.	ENSG00000180532	ENST00000318203	T	0.17213	2.29	4.83	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.126087	0.37623	N	0.002007	T	0.04770	0.0129	N	0.00677	-1.265	0.32425	N	0.548761	B	0.31931	0.347	B	0.35353	0.201	T	0.20472	-1.0274	10	0.06494	T	0.89	-4.7718	12.4389	0.55614	0.0:0.0:0.7815:0.2185	.	333	Q8NAM6	ZSCA4_HUMAN	I	333	ENSP00000321963:R333I	ENSP00000321963:R333I	R	+	2	0	ZSCAN4	62881781	0.004000	0.15560	1.000000	0.80357	0.883000	0.51084	0.074000	0.14662	2.669000	0.90835	0.655000	0.94253	AGA		0.428	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
ZNF551	90233	broad.mit.edu	37	19	58198272	58198272	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58198272G>A	ENST00000282296.5	+	3	814	c.629G>A	c.(628-630)aGc>aAc	p.S210N	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S194N|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	210					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.S194N(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTAGCAGCAGCAAGCATATA	0.483																																					p.S194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581A	19						.						64.0	66.0	65.0					19																	58198272		2202	4299	6501	62890084	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.629G>A	19.37:g.58198272G>A	ENSP00000282296:p.Ser210Asn		62890084	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	1.257	-0.616895	0.03663	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	1.63	-2.06	0.07298	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.18366	-1.0339	8	0.37606	T	0.19	.	2.6392	0.04966	0.3761:0.2628:0.3611:0.0	.	210	Q7Z340	ZN551_HUMAN	N	210;194;104	.	ENSP00000282296:S194N	S	+	2	0	ZNF551	62890084	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.135000	0.01306	-0.508000	0.06540	0.561000	0.74099	AGC		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
ZNF154	7710	broad.mit.edu	37	19	58213222	58213222	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58213222G>T	ENST00000512439.2	-	3	1291	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.F365L|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	365					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.F365L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTAGGGAAAGAACTTCCCAC	0.488																																					p.F365L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1095A	19						.						90.0	94.0	92.0					19																	58213222		2200	4300	6500	62905034	SO:0001583	missense	7710	exon3			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.1095C>A	19.37:g.58213222G>T	ENSP00000421258:p.Phe365Leu		62905034	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	G	0.600	-0.829455	0.02734	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.06933	3.24;3.24	2.99	-3.67	0.04476	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.03029	-0.43	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.41034	-0.9531	9	0.72032	D	0.01	.	1.0212	0.01518	0.4268:0.1592:0.2522:0.1618	.	365	Q13106	ZN154_HUMAN	L	365	ENSP00000421258:F365L;ENSP00000442370:F365L	ENSP00000442370:F365L	F	-	3	2	ZNF154	62905034	0.000000	0.05858	0.013000	0.15412	0.066000	0.16364	-4.301000	0.00257	-0.632000	0.05553	-0.258000	0.10820	TTC		0.488	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF671	79891	broad.mit.edu	37	19	58232190	58232190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58232190C>A	ENST00000317398.6	-	4	1359	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Nonsense_Mutation_p.E324*	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	422					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.E422*(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAAGGCCTTTCTCCAGTGTGA	0.483																																					p.E422X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1264T	19						.						122.0	99.0	107.0					19																	58232190		2203	4300	6503	62924002	SO:0001587	stop_gained	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1264G>T	19.37:g.58232190C>A	ENSP00000321848:p.Glu422*		62924002	NM_024833	A6NF07|Q9H5E9	Nonsense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	37	6.197636	0.97367	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	.	.	.	1.88	0.819	0.18785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.3264	0.21246	0.0:0.8266:0.0:0.1734	.	.	.	.	X	422;324	.	ENSP00000321848:E422X	E	-	1	0	ZNF671	62924002	0.003000	0.15002	0.949000	0.38748	0.994000	0.84299	1.340000	0.33896	0.352000	0.24053	0.467000	0.42956	GAA		0.483	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ZNF671	79891	broad.mit.edu	37	19	58232304	58232304	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58232304G>T	ENST00000317398.6	-	4	1245	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.L286I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	384					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.L384I(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTCGAATGAGATTAGACTTA	0.473																																					p.L384I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1150A	19						.						80.0	67.0	72.0					19																	58232304		2203	4300	6503	62924116	SO:0001583	missense	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1150C>A	19.37:g.58232304G>T	ENSP00000321848:p.Leu384Ile		62924116	NM_024833	A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555028	0.65425	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.53857	0.6;0.6	1.88	0.79	0.18613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69735	0.3144	M	0.92169	3.28	0.09310	N	1	P	0.42357	0.777	P	0.53722	0.733	T	0.60732	-0.7205	9	0.87932	D	0	.	6.346	0.21349	0.1748:0.0:0.8252:0.0	.	384	Q8TAW3	ZN671_HUMAN	I	384;286	ENSP00000321848:L384I;ENSP00000338670:L286I	ENSP00000321848:L384I	L	-	1	0	ZNF671	62924116	0.720000	0.27996	0.039000	0.18376	0.934000	0.57294	1.302000	0.33459	0.336000	0.23639	0.467000	0.42956	CTC		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ZNF671	79891	broad.mit.edu	37	19	58232505	58232505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58232505C>A	ENST00000317398.6	-	4	1044	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Nonsense_Mutation_p.E219*	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	317					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.E317*(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCCCACATTCGTTACACTCA	0.473																																					p.E317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G949T	19						.						102.0	96.0	98.0					19																	58232505		2203	4300	6503	62924317	SO:0001587	stop_gained	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.949G>T	19.37:g.58232505C>A	ENSP00000321848:p.Glu317*		62924317	NM_024833	A6NF07|Q9H5E9	Nonsense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750918	0.89753	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	.	.	.	1.94	-0.399	0.12415	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.9122	0.13827	0.0:0.6351:0.2185:0.1464	.	.	.	.	X	317;219	.	ENSP00000321848:E317X	E	-	1	0	ZNF671	62924317	0.000000	0.05858	0.072000	0.20136	0.903000	0.53119	-3.549000	0.00434	-0.015000	0.14150	0.467000	0.42956	GAA		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ZNF417	147687	broad.mit.edu	37	19	58420013	58420013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58420013C>A	ENST00000312026.5	-	3	1797	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	ZNF417_ENST00000536263.1_Nonsense_Mutation_p.E346*|ZNF417_ENST00000595559.1_Nonsense_Mutation_p.E544*|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E545*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAGGCCTTTCTCCAGTGTGA	0.413																																					p.E545X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1633T	19						.						116.0	115.0	115.0					19																	58420013		2203	4300	6503	63111825	SO:0001587	stop_gained	147687	exon3			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1633G>T	19.37:g.58420013C>A	ENSP00000311319:p.Glu545*		63111825	NM_152475	B4DEU1	Nonsense_Mutation	SNP	ENST00000312026.5	37	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	42	9.742544	0.99252	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	.	.	.	2.52	0.231	0.15377	.	.	.	.	.	.	.	.	.	.	.	0.43536	D	0.995827	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.726	0.18013	0.0:0.5965:0.0:0.4035	.	.	.	.	X	545;346	.	ENSP00000311319:E545X	E	-	1	0	ZNF417	63111825	0.195000	0.23338	0.000000	0.03702	0.304000	0.27724	0.810000	0.27183	-0.003000	0.14444	0.306000	0.20318	GAA		0.413	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475	
C19orf18	147685	broad.mit.edu	37	19	58477955	58477955	+	Missense_Mutation	SNP	G	G	A	rs200742590		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58477955G>A	ENST00000314391.3	-	4	415	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S105L(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GGCTACGCTCGAAATTAAAAT	0.348																																					p.S105L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314T	19						.	G	LEU/SER	0,4406		0,0,2203	75.0	74.0	75.0		314	3.0	0.0	19		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C19orf18	NM_152474.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	105/216	58477955	1,13005	2203	4300	6503	63169767	SO:0001583	missense	147685	exon4			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.314C>T	19.37:g.58477955G>A	ENSP00000321519:p.Ser105Leu		63169767	NM_152474		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517451	0.27123	0.0	1.16E-4	ENSG00000177025	ENST00000314391	T	0.58797	0.31	4.1	3.05	0.35203	.	0.340109	0.21511	N	0.073370	T	0.37461	0.1004	L	0.27053	0.805	0.09310	N	1	P	0.42692	0.787	B	0.32090	0.14	T	0.33929	-0.9849	10	0.66056	D	0.02	-4.6675	9.9264	0.41494	0.0:0.2264:0.7736:0.0	.	105	Q8NEA5	CS018_HUMAN	L	105	ENSP00000321519:S105L	ENSP00000321519:S105L	S	-	2	0	C19orf18	63169767	0.003000	0.15002	0.004000	0.12327	0.063000	0.16089	1.345000	0.33953	1.296000	0.44742	0.644000	0.83932	TCG		0.348	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
ZNF606	80095	broad.mit.edu	37	19	58489760	58489760	+	Missense_Mutation	SNP	C	C	T	rs373070463		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58489760C>T	ENST00000341164.4	-	7	2908	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ZNF606_ENST00000536132.1_Missense_Mutation_p.R673H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R763H(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCATATAAAGCGTTTCTCTCC	0.373																																					p.R763H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2288A	19						.	C	HIS/ARG	0,4406		0,0,2203	115.0	114.0	114.0		2288	3.6	1.0	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF606	NM_025027.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	763/793	58489760	1,13005	2203	4300	6503	63181572	SO:0001583	missense	80095	exon7			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2288G>A	19.37:g.58489760C>T	ENSP00000343617:p.Arg763His		63181572	NM_025027	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008480	0.35415	0.0	1.16E-4	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.10477	2.87;2.87	4.66	3.63	0.41609	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.679844	0.12984	N	0.422987	T	0.07098	0.0180	N	0.16602	0.42	0.32142	N	0.585392	B	0.15141	0.012	B	0.06405	0.002	T	0.05666	-1.0871	10	0.87932	D	0	.	7.001	0.24809	0.0:0.6169:0.2887:0.0944	.	763	Q8WXB4	ZN606_HUMAN	H	763;673	ENSP00000343617:R763H;ENSP00000445624:R673H	ENSP00000343617:R763H	R	-	2	0	ZNF606	63181572	0.322000	0.24634	1.000000	0.80357	0.992000	0.81027	0.396000	0.20867	1.296000	0.44742	0.650000	0.86243	CGC		0.373	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S563Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398																																					p.S563Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1688A	19						.						66.0	66.0	66.0					19																	58490360		2203	4300	6503	63182172	SO:0001583	missense	80095	exon7			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1688C>A	19.37:g.58490360G>T	ENSP00000343617:p.Ser563Tyr		63182172	NM_025027	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561739	0.45590	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.19938	2.11;2.11	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299887	0.24513	N	0.037875	T	0.35098	0.0920	L	0.43923	1.385	0.33955	D	0.64489	D	0.71674	0.998	D	0.66196	0.942	T	0.45469	-0.9259	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.8273:0.1727	.	563	Q8WXB4	ZN606_HUMAN	Y	563;473	ENSP00000343617:S563Y;ENSP00000445624:S473Y	ENSP00000343617:S563Y	S	-	2	0	ZNF606	63182172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.571000	0.53841	2.597000	0.87782	0.561000	0.74099	TCT		0.398	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027	
ZSCAN1	284312	broad.mit.edu	37	19	58563961	58563961	+	Missense_Mutation	SNP	C	C	T	rs372048643		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58563961C>T	ENST00000282326.1	+	5	816	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	190					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A190V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACACCAGGGCGGAGGCCGAA	0.612																																					p.A190V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569T	19						.	C	VAL/ALA	0,4406		0,0,2203	31.0	35.0	34.0		569	-3.6	0.0	19		34	1,8597		0,1,4298	no	missense	ZSCAN1	NM_182572.3	64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	190/409	58563961	1,13003	2203	4299	6502	63255773	SO:0001583	missense	284312	exon5			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.569C>T	19.37:g.58563961C>T	ENSP00000282326:p.Ala190Val		63255773	NM_182572	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	0.525	-0.860550	0.02610	0.0	1.16E-4	ENSG00000152467	ENST00000282326	T	0.04083	3.71	1.9	-3.56	0.04626	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.46289	-0.9202	9	0.29301	T	0.29	.	2.1121	0.03705	0.2479:0.332:0.0:0.4202	.	190	Q8NBB4	ZSCA1_HUMAN	V	190	ENSP00000282326:A190V	ENSP00000282326:A190V	A	+	2	0	ZSCAN1	63255773	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-1.920000	0.01571	-0.414000	0.07495	0.305000	0.20034	GCG		0.612	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
ZSCAN1	284312	broad.mit.edu	37	19	58564950	58564950	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58564950G>T	ENST00000282326.1	+	6	1005	c.758G>T	c.(757-759)aGg>aTg	p.R253M		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.R253M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGGAGAAACAGGAACACTGAC	0.622																																					p.R253M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G758T	19						.						64.0	66.0	65.0					19																	58564950		2203	4300	6503	63256762	SO:0001583	missense	284312	exon6			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.758G>T	19.37:g.58564950G>T	ENSP00000282326:p.Arg253Met		63256762	NM_182572	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	4.840	0.156109	0.09236	.	.	ENSG00000152467	ENST00000282326	T	0.04758	3.56	1.14	0.0741	0.14393	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.45789	-0.9237	9	0.36615	T	0.2	.	3.609	0.08053	0.265:0.0:0.735:0.0	.	253	Q8NBB4	ZSCA1_HUMAN	M	253	ENSP00000282326:R253M	ENSP00000282326:R253M	R	+	2	0	ZSCAN1	63256762	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.535000	0.23114	0.067000	0.16545	-0.333000	0.08304	AGG		0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572	
GTF2F1	2962	broad.mit.edu	37	19	6389607	6389607	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6389607T>G	ENST00000394456.5	-	4	638	c.174A>C	c.(172-174)caA>caC	p.Q58H	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.Q30H	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	58					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q58H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCTCCTCCTCTTGGTAGATTT	0.607																																					p.Q58H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A174C	19						.						116.0	122.0	120.0					19																	6389607		2203	4300	6503	6340607	SO:0001583	missense	2962	exon4				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.174A>C	19.37:g.6389607T>G	ENSP00000377969:p.Gln58His		6340607	NM_002096	B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330518	0.60743	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.47528	0.84;0.84	5.43	-4.78	0.03209	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.191058	0.45606	N	0.000343	T	0.48857	0.1523	L	0.53249	1.67	0.37098	D	0.899741	B;D	0.55605	0.051;0.972	B;P	0.54889	0.033;0.763	T	0.57277	-0.7839	10	0.49607	T	0.09	-33.901	12.1624	0.54110	0.113:0.751:0.0:0.136	.	30;58	E7EUG6;P35269	.;T2FA_HUMAN	H	58;30;118;31;58	ENSP00000377969:Q58H;ENSP00000392107:Q30H	ENSP00000377969:Q58H	Q	-	3	2	GTF2F1	6340607	0.446000	0.25665	0.966000	0.40874	0.737000	0.42083	-0.343000	0.07791	-0.839000	0.04212	0.533000	0.62120	CAA		0.607	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096	
ZNF329	79673	broad.mit.edu	37	19	58640441	58640441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58640441C>A	ENST00000598312.1	-	4	663	c.430G>T	c.(430-432)Gag>Tag	p.E144*	ZNF329_ENST00000358067.4_Nonsense_Mutation_p.E144*	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	144					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.E144*(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCTCTCACTGGA	0.383																																					p.E144X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G430T	19						.						93.0	90.0	91.0					19																	58640441		2203	4300	6503	63332253	SO:0001587	stop_gained	79673	exon4			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.430G>T	19.37:g.58640441C>A	ENSP00000470008:p.Glu144*		63332253	NM_024620	B3KR32|Q9H9R7	Nonsense_Mutation	SNP	ENST00000598312.1	37	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467738	0.63625	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	.	.	.	4.39	4.39	0.52855	.	0.294536	0.24472	N	0.038227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.8394	16.9533	0.86251	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000350773:E144X	E	-	1	0	ZNF329	63332253	0.957000	0.32711	0.714000	0.30535	0.043000	0.13939	4.146000	0.58072	2.730000	0.93505	0.655000	0.94253	GAG		0.383	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620	
ZNF544	27300	broad.mit.edu	37	19	58773400	58773400	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58773400C>A	ENST00000596652.1	+	6	1662	c.1428C>A	c.(1426-1428)agC>agA	p.S476R	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.S448R|ZNF544_ENST00000599953.1_Missense_Mutation_p.S334R|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.S448R|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.S448R|ZNF544_ENST00000269829.4_Missense_Mutation_p.S476R|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S476R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCAGCCAAAGCTATGAGTTAG	0.418																																					p.S476R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1428A	19						.						86.0	88.0	88.0					19																	58773400		2203	4300	6503	63465212	SO:0001583	missense	27300	exon7			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1428C>A	19.37:g.58773400C>A	ENSP00000469635:p.Ser476Arg		63465212	NM_014480	A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.596	-0.830868	0.02713	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.42900	0.96;0.96	2.53	-0.0757	0.13725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17323	0.0416	N	0.16478	0.41	0.09310	N	1	B;B;B	0.31485	0.325;0.008;0.022	B;B;B	0.22152	0.038;0.004;0.004	T	0.20306	-1.0279	9	0.06494	T	0.89	.	5.1939	0.15225	0.0:0.6412:0.2132:0.1456	.	448;448;476	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	R	476;448;140	ENSP00000269829:S476R;ENSP00000394341:S448R	ENSP00000269829:S476R	S	+	3	2	ZNF544	63465212	0.000000	0.05858	0.018000	0.16275	0.077000	0.17291	-0.210000	0.09345	0.386000	0.24997	0.462000	0.41574	AGC		0.418	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
ZNF544	27300	broad.mit.edu	37	19	58773781	58773781	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58773781C>A	ENST00000596652.1	+	6	2043	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Silent_p.P575P|ZNF544_ENST00000599953.1_Silent_p.P461P|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Silent_p.P575P|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Silent_p.P575P|ZNF544_ENST00000269829.4_Silent_p.P603P|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	603					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.P603P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAAAGCCCTATGAATGTA	0.448																																					p.P603P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1809A	19						.						96.0	88.0	90.0					19																	58773781		2203	4300	6503	63465593	SO:0001819	synonymous_variant	27300	exon7			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1809C>A	19.37:g.58773781C>A			63465593	NM_014480	A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	CCDS12973.1																																																																																				0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
ZSCAN22	342945	broad.mit.edu	37	19	58849905	58849905	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58849905C>A	ENST00000329665.4	+	3	836	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	230					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.S230Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGGAACAGTTCTAGTGCGTGG	0.517																																					p.S230Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689A	19						.						165.0	172.0	169.0					19																	58849905		2203	4300	6503	63541717	SO:0001583	missense	342945	exon3			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.689C>A	19.37:g.58849905C>A	ENSP00000332433:p.Ser230Tyr		63541717	NM_181846	Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.323862	0.01309	.	.	ENSG00000182318	ENST00000329665	T	0.08807	3.05	4.02	1.83	0.25207	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.46020	-0.9221	9	0.06099	T	0.92	.	2.773	0.05340	0.1862:0.5288:0.1811:0.1039	.	230	P10073	ZSC22_HUMAN	Y	230	ENSP00000332433:S230Y	ENSP00000332433:S230Y	S	+	2	0	ZSCAN22	63541717	0.000000	0.05858	0.001000	0.08648	0.176000	0.22953	-0.728000	0.04925	0.344000	0.23847	0.313000	0.20887	TCT		0.517	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	
ZSCAN22	342945	broad.mit.edu	37	19	58850605	58850605	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58850605T>G	ENST00000329665.4	+	3	1536	c.1389T>G	c.(1387-1389)ccT>ccG	p.P463P		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	463					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.P463P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GAGAGAAGCCTTATAAGTGCA	0.552																																					p.P463P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1389G	19						.						77.0	70.0	72.0					19																	58850605		2203	4300	6503	63542417	SO:0001819	synonymous_variant	342945	exon3			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1389T>G	19.37:g.58850605T>G			63542417	NM_181846	Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	CCDS12975.1																																																																																				0.552	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846	
ZNF132	7691	broad.mit.edu	37	19	58945961	58945961	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58945961A>T	ENST00000254166.3	-	3	1250	c.850T>A	c.(850-852)Ttt>Att	p.F284I		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F284I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTGTGAAACTTTTTATTA	0.423																																					p.F284I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T850A	19						.						57.0	64.0	61.0					19																	58945961		2203	4299	6502	63637773	SO:0001583	missense	7691	exon3			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.850T>A	19.37:g.58945961A>T	ENSP00000254166:p.Phe284Ile		63637773	NM_003433	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	A	0.035	-1.313246	0.01331	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.12672	2.66	3.27	-1.98	0.07480	.	.	.	.	.	T	0.01730	0.0055	N	0.00205	-1.85	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41787	-0.9489	9	0.02654	T	1	.	0.0799	0.00030	0.293:0.164:0.2216:0.3214	.	284	P52740	ZN132_HUMAN	I	284;195	ENSP00000254166:F284I	ENSP00000254166:F284I	F	-	1	0	ZNF132	63637773	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.211000	0.09332	-0.272000	0.09259	-0.274000	0.10170	TTT		0.423	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433	
ZNF132	7691	broad.mit.edu	37	19	58946044	58946044	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:58946044C>A	ENST00000254166.3	-	3	1167	c.767G>T	c.(766-768)aGa>aTa	p.R256I		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	256					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.R256I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AGAGTGAGTTCTCAGATGGTT	0.448																																					p.R256I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G767T	19						.						95.0	98.0	97.0					19																	58946044		2203	4300	6503	63637856	SO:0001583	missense	7691	exon3			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.767G>T	19.37:g.58946044C>A	ENSP00000254166:p.Arg256Ile		63637856	NM_003433	Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239972	0.39598	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.18502	2.21	3.41	-2.99	0.05497	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18841	0.0452	M	0.85462	2.755	0.36379	D	0.861789	B	0.20261	0.043	B	0.20767	0.031	T	0.07501	-1.0769	9	0.44086	T	0.13	.	3.8206	0.08833	0.4473:0.3435:0.0:0.2092	.	256	P52740	ZN132_HUMAN	I	256;167	ENSP00000254166:R256I	ENSP00000254166:R256I	R	-	2	0	ZNF132	63637856	0.000000	0.05858	0.207000	0.23584	0.385000	0.30292	-2.170000	0.01268	-0.667000	0.05303	0.655000	0.94253	AGA		0.448	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433	
SLC27A5	10998	broad.mit.edu	37	19	59022255	59022255	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:59022255G>T	ENST00000263093.2	-	2	840	c.731C>A	c.(730-732)gCt>gAt	p.A244D	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A160D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	244					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A244D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GATGTTCTCAGCCTGCAGCTT	0.632																																					p.A244D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C731A	19						.						35.0	36.0	36.0					19																	59022255		2203	4300	6503	63714067	SO:0001583	missense	10998	exon2			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.731C>A	19.37:g.59022255G>T	ENSP00000263093:p.Ala244Asp		63714067	NM_012254	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.428029	0.25726	.	.	ENSG00000083807	ENST00000263093	T	0.43688	0.94	4.59	2.2	0.27929	AMP-dependent synthetase/ligase (1);	0.128198	0.51477	D	0.000097	T	0.31263	0.0791	N	0.17082	0.46	0.33018	D	0.52842	P	0.37276	0.589	P	0.46208	0.507	T	0.39210	-0.9625	10	0.25106	T	0.35	-11.8543	9.1664	0.37054	0.0:0.0:0.6066:0.3934	.	244	Q9Y2P5	S27A5_HUMAN	D	244	ENSP00000263093:A244D	ENSP00000263093:A244D	A	-	2	0	SLC27A5	63714067	0.185000	0.23213	0.793000	0.32043	0.997000	0.91878	2.136000	0.42121	1.214000	0.43395	0.491000	0.48974	GCT		0.632	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254	
MISP	126353	broad.mit.edu	37	19	758401	758401	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:758401G>A	ENST00000215582.6	+	2	1558	c.1455G>A	c.(1453-1455)tcG>tcA	p.S485S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	485					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S485S(1)									AAGAGGCATCGAAGCCCCCTC	0.642																																					p.S485S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1455A	19						.						46.0	45.0	46.0					19																	758401		2203	4300	6503	709401	SO:0001819	synonymous_variant	126353	exon2			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1455G>A	19.37:g.758401G>A			709401	NM_173481		Silent	SNP	ENST00000215582.6	37	CCDS12042.1																																																																																				0.642	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481	
CNN2	1265	broad.mit.edu	37	19	1036489	1036489	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:1036489G>T	ENST00000263097.4	+	6	945	c.582G>T	c.(580-582)aaG>aaT	p.K194N	AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000562958.2_Missense_Mutation_p.K215N|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.K155N|CNN2_ENST00000565096.2_Missense_Mutation_p.K183N	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	194				RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 6; BAA20887). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)	p.K194N(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGACCCCAAGAACCATATCC	0.632																																					p.K155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	19						.						73.0	71.0	72.0					19																	1036489		2203	4300	6503	987489	SO:0001583	missense	1265	exon5			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.582G>T	19.37:g.1036489G>T	ENSP00000263097:p.Lys194Asn		987489	NM_201277	A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.325885	0.60743	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.59224	1.24;0.28	4.18	2.04	0.26737	.	0.000000	0.85682	U	0.000000	T	0.74306	0.3699	M	0.86343	2.81	0.35947	D	0.833658	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.998;1.0	P;D;D;D;D;D	0.72982	0.907;0.979;0.979;0.979;0.929;0.979	T	0.78770	-0.2074	10	0.87932	D	0	.	8.1562	0.31171	0.2021:0.0:0.7979:0.0	.	215;183;169;155;194;194	B4DUT8;B4DDF4;B4DHU5;A6NFI4;Q99439;Q6FHE4	.;.;.;.;CNN2_HUMAN;.	N	194;155;173	ENSP00000263097:K194N;ENSP00000340129:K155N	ENSP00000263097:K194N	K	+	3	2	CNN2	987489	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.647000	0.24812	0.428000	0.26173	0.556000	0.70494	AAG		0.632	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368	
SLC25A23	79085	broad.mit.edu	37	19	6457528	6457528	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6457528C>T	ENST00000301454.4	-	3	463	c.357G>A	c.(355-357)gaG>gaA	p.E119E	SLC25A23_ENST00000334510.5_Silent_p.E119E|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	119	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.E119E(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GCAAAATTTTCTCAGCCTGCT	0.562																																					p.E119E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G357A	19						.						55.0	55.0	55.0					19																	6457528		2203	4300	6503	6408528	SO:0001819	synonymous_variant	79085	exon3			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.357G>A	19.37:g.6457528C>T			6408528	NM_024103	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																				0.562	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103	
DENND1C	79958	broad.mit.edu	37	19	6467766	6467766	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6467766G>T	ENST00000381480.2	-	23	2267	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M	DENND1C_ENST00000543576.1_Missense_Mutation_p.L675M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	719					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L719M(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTGGGGGCCAGAATTTGGGGG	0.602																																					p.L719M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2155A	19						.						17.0	19.0	18.0					19																	6467766		1869	4100	5969	6418766	SO:0001583	missense	79958	exon23			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2155C>A	19.37:g.6467766G>T	ENSP00000370889:p.Leu719Met		6418766	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658376	0.67586	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.12255	2.87;2.7	3.76	3.76	0.43208	.	.	.	.	.	T	0.13415	0.0325	N	0.24115	0.695	0.09310	N	1	D	0.55385	0.971	P	0.49012	0.598	T	0.13255	-1.0516	9	0.30854	T	0.27	-1.2734	11.3301	0.49470	0.0:0.0:1.0:0.0	.	719	Q8IV53	DEN1C_HUMAN	M	719;675	ENSP00000370889:L719M;ENSP00000437805:L675M	ENSP00000370889:L719M	L	-	1	2	DENND1C	6418766	0.037000	0.19845	0.013000	0.15412	0.817000	0.46193	2.734000	0.47368	2.128000	0.65567	0.298000	0.19748	CTG		0.602	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
DENND1C	79958	broad.mit.edu	37	19	6475303	6475303	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6475303G>A	ENST00000381480.2	-	14	1147	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Silent_p.D301D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	345	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D345D(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGACGAGTGCGTCGCGGTACC	0.652																																					p.D345D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1035T	19						.						23.0	29.0	27.0					19																	6475303		1993	4154	6147	6426303	SO:0001819	synonymous_variant	79958	exon14			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1035C>T	19.37:g.6475303G>A			6426303	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	ENST00000381480.2	37	CCDS45938.1																																																																																				0.652	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
DENND1C	79958	broad.mit.edu	37	19	6478850	6478850	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6478850A>G	ENST00000381480.2	-	6	422	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.F60L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	104	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F104L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AACACCTCGAACCAAGGCAGG	0.607																																					p.F104L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T310C	19						.						55.0	67.0	63.0					19																	6478850		2043	4181	6224	6429850	SO:0001583	missense	79958	exon6			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.310T>C	19.37:g.6478850A>G	ENSP00000370889:p.Phe104Leu		6429850	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428231	0.62844	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11712	2.75;2.75	4.98	4.98	0.66077	DENN (3);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.79011	2.435	0.45307	D	0.998301	P	0.50943	0.94	P	0.62813	0.907	T	0.03957	-1.0989	10	0.72032	D	0.01	-13.9744	12.587	0.56423	1.0:0.0:0.0:0.0	.	104	Q8IV53	DEN1C_HUMAN	L	104;60	ENSP00000370889:F104L;ENSP00000437805:F60L	ENSP00000370889:F104L	F	-	1	0	DENND1C	6429850	1.000000	0.71417	0.997000	0.53966	0.201000	0.24016	6.007000	0.70731	1.873000	0.54277	0.260000	0.18958	TTC		0.607	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
DENND1C	79958	broad.mit.edu	37	19	6479707	6479707	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6479707T>G	ENST00000381480.2	-	4	261	c.149A>C	c.(148-150)aAa>aCa	p.K50T	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.K6T	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	50	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K50T(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAAGCAGAATTTAGGCACCAT	0.567																																					p.K50T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149C	19						.						112.0	111.0	112.0					19																	6479707		1957	4142	6099	6430707	SO:0001583	missense	79958	exon4			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.149A>C	19.37:g.6479707T>G	ENSP00000370889:p.Lys50Thr		6430707	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	t	18.40	3.616563	0.66672	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.41758	0.99;0.99	5.14	3.0	0.34707	uDENN (3);	0.164905	0.52532	N	0.000065	T	0.48943	0.1528	M	0.70595	2.14	0.25744	N	0.985127	P	0.41041	0.736	P	0.51297	0.665	T	0.43702	-0.9375	10	0.52906	T	0.07	-8.6976	4.1163	0.10083	0.0:0.1845:0.1787:0.6368	.	50	Q8IV53	DEN1C_HUMAN	T	50;6	ENSP00000370889:K50T;ENSP00000437805:K6T	ENSP00000370889:K50T	K	-	2	0	DENND1C	6430707	1.000000	0.71417	0.840000	0.33206	0.993000	0.82548	1.185000	0.32065	0.275000	0.22094	0.375000	0.23000	AAA		0.567	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
DENND1C	79958	broad.mit.edu	37	19	6480028	6480028	+	Missense_Mutation	SNP	C	C	T	rs372498127		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6480028C>T	ENST00000381480.2	-	2	164	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DENND1C_ENST00000591030.1_Intron|DENND1C_ENST00000543576.1_Intron	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	18					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E18K(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CAGGCCGCTTCGAAGAACCAA	0.612																																					p.E18K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	19						.	C	LYS/GLU	0,3946		0,0,1973	37.0	43.0	41.0		52	3.9	1.0	19		41	1,8285		0,1,4142	no	missense	DENND1C	NM_024898.2	56	0,1,6115	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	18/802	6480028	1,12231	1973	4143	6116	6431028	SO:0001583	missense	79958	exon2			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.52G>A	19.37:g.6480028C>T	ENSP00000370889:p.Glu18Lys		6431028	NM_024898	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.086160	0.76642	0.0	1.21E-4	ENSG00000205744	ENST00000381480	T	0.12672	2.66	4.95	3.9	0.45041	uDENN (1);	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.52759	1.655	0.80722	D	1	D	0.55385	0.971	P	0.51833	0.681	T	0.06267	-1.0836	10	0.10111	T	0.7	-16.5774	11.2578	0.49065	0.0:0.8147:0.1853:0.0	.	18	Q8IV53	DEN1C_HUMAN	K	18	ENSP00000370889:E18K	ENSP00000370889:E18K	E	-	1	0	DENND1C	6431028	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	3.389000	0.52516	1.055000	0.40461	0.558000	0.71614	GAA		0.612	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
C3	718	broad.mit.edu	37	19	6712606	6712606	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6712606G>A	ENST00000245907.6	-	10	1124	c.1032C>T	c.(1030-1032)agC>agT	p.S344S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	344					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.S344S(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)	TGGGGATCCCGCTGCGCTCTG	0.587																																					p.S344S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	19						.						216.0	189.0	198.0					19																	6712606		2203	4300	6503	6663606	SO:0001819	synonymous_variant	718	exon10			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.1032C>T	19.37:g.6712606G>A			6663606	NM_000064	A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
GPR108	56927	broad.mit.edu	37	19	6732521	6732521	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6732521C>T	ENST00000264080.7	-	11	999	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	GPR108_ENST00000430424.4_Missense_Mutation_p.E83K|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	325						integral component of membrane (GO:0016021)		p.E325K(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCAAGGCCTTCGATGGGGTGG	0.632																																					p.E325K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	19						.						73.0	75.0	74.0					19																	6732521		2107	4207	6314	6683521	SO:0001583	missense	56927	exon11				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.973G>A	19.37:g.6732521C>T	ENSP00000264080:p.Glu325Lys		6683521	NM_001080452	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065911	0.76187	.	.	ENSG00000125734	ENST00000264080;ENST00000430424	T	0.25414	1.8	4.02	2.98	0.34508	.	0.000000	0.64402	U	0.000009	T	0.45736	0.1357	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.41502	-0.9505	10	0.72032	D	0.01	-11.6071	7.7417	0.28845	0.0:0.8833:0.0:0.1167	.	325	Q9NPR9	GP108_HUMAN	K	325;83	ENSP00000264080:E325K	ENSP00000264080:E325K	E	-	1	0	GPR108	6683521	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	3.877000	0.56123	1.026000	0.39733	0.491000	0.48974	GAA		0.632	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
GPR108	56927	broad.mit.edu	37	19	6734027	6734027	+	Missense_Mutation	SNP	C	C	T	rs369806355		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6734027C>T	ENST00000264080.7	-	6	564	c.538G>A	c.(538-540)Gca>Aca	p.A180T	GPR108_ENST00000430424.4_5'UTR|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	180						integral component of membrane (GO:0016021)		p.A180T(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGAATCACTGCGGGTGTTGAC	0.602											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A180T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	19						.	C	THR/ALA	1,3899		0,1,1949	89.0	90.0	90.0		538	-5.1	0.0	19		90	0,8282		0,0,4141	no	missense	GPR108	NM_001080452.1	58	0,1,6090	TT,TC,CC		0.0,0.0256,0.0082	benign	180/544	6734027	1,12181	1950	4141	6091	6685027	SO:0001583	missense	56927	exon6				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.538G>A	19.37:g.6734027C>T	ENSP00000264080:p.Ala180Thr	636	6685027	NM_001080452	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.862|4.862	0.160145|0.160145	0.09287|0.09287	2.56E-4|2.56E-4	0.0|0.0	ENSG00000125734|ENSG00000125734	ENST00000264080|ENST00000549846	T|.	0.22743|.	1.94|.	3.87|3.87	-5.09|-5.09	0.02920|0.02920	.|.	13.826000|.	0.00848|.	N|.	0.001811|.	T|T	0.14013|0.14013	0.0339|0.0339	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999989|0.999989	B|.	0.17268|.	0.021|.	B|.	0.12156|.	0.007|.	T|T	0.30475|0.30475	-0.9977|-0.9977	10|5	0.12766|.	T|.	0.61|.	1.5358|1.5358	5.6126|5.6126	0.17414|0.17414	0.0:0.3756:0.1444:0.48|0.0:0.3756:0.1444:0.48	.|.	180|.	Q9NPR9|.	GP108_HUMAN|.	T|H	180|162	ENSP00000264080:A180T|.	ENSP00000264080:A180T|.	A|R	-|-	1|2	0|0	GPR108|GPR108	6685027|6685027	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-1.128000|-1.128000	0.03247|0.03247	-0.615000|-0.615000	0.05679|0.05679	-0.258000|-0.258000	0.10820|0.10820	GCA|CGC		0.602	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
TRIP10	9322	broad.mit.edu	37	19	6742999	6742999	+	Silent	SNP	C	C	T	rs148560112	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6742999C>T	ENST00000313244.9	+	4	254	c.219C>T	c.(217-219)ttC>ttT	p.F73F	TRIP10_ENST00000596758.1_Silent_p.F73F|TRIP10_ENST00000313285.8_Silent_p.F73F|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000600428.1_5'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	73	F-BAR domain.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.F73F(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AACAGTCCTTCGTACAGATTC	0.582													C|||	8	0.00159744	0.0061	0.0	5008	,	,		16995	0.0		0.0	False		,,,				2504	0.0				p.F73F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	19						.	C		40,4366	43.1+/-76.7	0,40,2163	89.0	89.0	89.0		219	-4.6	0.3	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIP10	NM_004240.2		0,41,6462	TT,TC,CC		0.0116,0.9079,0.3152		73/546	6742999	41,12965	2203	4300	6503	6693999	SO:0001819	synonymous_variant	9322	exon4			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.219C>T	19.37:g.6742999C>T			6693999	NM_004240	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37																																																																																					0.582	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2		
SH2D3A	10045	broad.mit.edu	37	19	6760665	6760665	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6760665G>A	ENST00000245908.6	-	3	672	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	135					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R135W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCTCTATCCGAGCTGGGCCA	0.557																																					p.R135W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403T	19						.						36.0	35.0	35.0					19																	6760665		2203	4300	6503	6711665	SO:0001583	missense	10045	exon3			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.403C>T	19.37:g.6760665G>A	ENSP00000245908:p.Arg135Trp		6711665	NM_005490	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342216	0.24339	.	.	ENSG00000125731	ENST00000245908	T	0.13538	2.58	4.91	1.27	0.21489	.	1.632810	0.03997	N	0.295778	T	0.16981	0.0408	M	0.64404	1.975	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33929	-0.9849	10	0.72032	D	0.01	-0.035	5.2445	0.15488	0.1895:0.2317:0.5787:0.0	.	135	Q9BRG2	SH23A_HUMAN	W	135	ENSP00000245908:R135W	ENSP00000245908:R135W	R	-	1	2	SH2D3A	6711665	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.053000	0.14184	0.212000	0.20703	0.549000	0.68633	CGG		0.557	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	
VAV1	7409	broad.mit.edu	37	19	6829846	6829846	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6829846G>T	ENST00000602142.1	+	14	1397	c.1315G>T	c.(1315-1317)Gac>Tac	p.D439Y	VAV1_ENST00000539284.1_Missense_Mutation_p.D342Y|VAV1_ENST00000304076.2_Missense_Mutation_p.D439Y|VAV1_ENST00000596764.1_Missense_Mutation_p.D407Y|VAV1_ENST00000599806.1_Missense_Mutation_p.D384Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	439	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D439Y(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGCAGGGGAGACTCCTATGA	0.532																																					p.D439Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1315T	19						.						160.0	130.0	140.0					19																	6829846		2203	4300	6503	6780846	SO:0001583	missense	7409	exon14				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1315G>T	19.37:g.6829846G>T	ENSP00000472929:p.Asp439Tyr		6780846	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282684	0.59867	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88896	-2.44;-2.44	4.82	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.056154	0.64402	D	0.000002	D	0.91492	0.7314	L	0.43923	1.385	0.80722	D	1	D;D;B;P	0.89917	1.0;1.0;0.082;0.784	D;D;B;P	0.71656	0.941;0.974;0.083;0.471	D	0.90740	0.4649	10	0.38643	T	0.18	.	15.7353	0.77837	0.0:0.0:1.0:0.0	.	342;439;384;439	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	439;342	ENSP00000302269:D439Y;ENSP00000443242:D342Y	ENSP00000302269:D439Y	D	+	1	0	VAV1	6780846	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	4.732000	0.62029	2.385000	0.81259	0.655000	0.94253	GAC		0.532	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
VAV1	7409	broad.mit.edu	37	19	6857081	6857081	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6857081C>A	ENST00000602142.1	+	27	2583	c.2501C>A	c.(2500-2502)gCc>gAc	p.A834D	VAV1_ENST00000539284.1_Missense_Mutation_p.A737D|VAV1_ENST00000304076.2_Missense_Mutation_p.A812D|VAV1_ENST00000596764.1_Missense_Mutation_p.A802D|VAV1_ENST00000599806.1_Missense_Mutation_p.A779D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	834	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A834D(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGGTTCCCTGCCAACTACGTG	0.592																																					p.A834D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2501A	19						.						210.0	147.0	169.0					19																	6857081		2203	4300	6503	6808081	SO:0001583	missense	7409	exon27				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2501C>A	19.37:g.6857081C>A	ENSP00000472929:p.Ala834Asp		6808081	NM_005428	B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	c	16.20	3.055750	0.55325	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.53640	0.61	3.76	3.76	0.43208	Src homology-3 domain (4);	0.266470	0.29964	N	0.010741	T	0.51991	0.1707	L	0.47078	1.49	0.42735	D	0.993725	B;B;B;B	0.28971	0.229;0.228;0.004;0.096	B;B;B;B	0.43658	0.252;0.129;0.189;0.426	T	0.59904	-0.7366	10	0.72032	D	0.01	.	13.1412	0.59436	0.0:1.0:0.0:0.0	.	737;834;779;834	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	D	834;737	ENSP00000443242:A737D	ENSP00000302269:A834D	A	+	2	0	VAV1	6808081	0.988000	0.35896	0.998000	0.56505	0.869000	0.49853	6.281000	0.72632	1.958000	0.56883	0.542000	0.68232	GCC		0.592	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
EMR1	2015	broad.mit.edu	37	19	6890546	6890546	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6890546A>C	ENST00000312053.4	+	2	123	c.86A>C	c.(85-87)aAc>aCc	p.N29T	EMR1_ENST00000250572.8_Missense_Mutation_p.N29T|EMR1_ENST00000381404.4_Missense_Mutation_p.N29T|EMR1_ENST00000381407.5_Missense_Mutation_p.N29T|EMR1_ENST00000450315.3_Missense_Mutation_p.N29T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	29					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N29T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CGGAAACCAAACACAAAGGGT	0.463																																					p.N29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A86C	19						.						107.0	83.0	91.0					19																	6890546		2203	4300	6503	6841546	SO:0001583	missense	2015	exon2			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.86A>C	19.37:g.6890546A>C	ENSP00000311545:p.Asn29Thr		6841546	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.984757	0.00046	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77358	-1.04;-1.09;-1.08;0.08;0.34	2.02	-4.04	0.04010	.	.	.	.	.	T	0.40932	0.1137	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.0	T	0.20706	-1.0267	9	0.02654	T	1	.	4.3123	0.10976	0.5112:0.1735:0.0:0.3153	.	29;29;29;29;29	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	T	29	ENSP00000311545:N29T;ENSP00000370811:N29T;ENSP00000250572:N29T;ENSP00000370814:N29T;ENSP00000405974:N29T	ENSP00000250572:N29T	N	+	2	0	EMR1	6841546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.300000	0.00521	-3.064000	0.00255	-0.783000	0.03347	AAC		0.463	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
EMR1	2015	broad.mit.edu	37	19	6897257	6897257	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6897257C>A	ENST00000312053.4	+	4	373	c.336C>A	c.(334-336)ttC>ttA	p.F112L	EMR1_ENST00000250572.8_Missense_Mutation_p.F112L|EMR1_ENST00000381404.4_Intron|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.F112L|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	112	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F112L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TAGATGGTTTCTCTTCTCCCA	0.498																																					p.F112L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C336A	19						.						66.0	62.0	63.0					19																	6897257		2203	4300	6503	6848257	SO:0001583	missense	2015	exon4			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.336C>A	19.37:g.6897257C>A	ENSP00000311545:p.Phe112Leu		6848257	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391809	0.62066	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000250572;ENST00000450315	D;D;D	0.93488	-3.23;-3.23;-3.23	3.88	1.64	0.23874	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.93128	0.7812	M	0.72576	2.205	0.31319	N	0.686284	P;P;B	0.45428	0.858;0.518;0.085	P;P;B	0.50082	0.63;0.464;0.033	D	0.90453	0.4440	9	0.72032	D	0.01	.	6.3723	0.21489	0.0:0.7601:0.0:0.2399	.	112;112;112	E7EPX9;Q14246-2;Q14246	.;.;EMR1_HUMAN	L	112	ENSP00000311545:F112L;ENSP00000250572:F112L;ENSP00000405974:F112L	ENSP00000250572:F112L	F	+	3	2	EMR1	6848257	0.917000	0.31117	0.970000	0.41538	0.758000	0.43043	2.185000	0.42584	0.843000	0.35070	0.563000	0.77884	TTC		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
EMR1	2015	broad.mit.edu	37	19	6919714	6919714	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:6919714G>A	ENST00000312053.4	+	13	1613	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	EMR1_ENST00000250572.8_Missense_Mutation_p.D526N|EMR1_ENST00000381404.4_Missense_Mutation_p.D474N|EMR1_ENST00000381407.5_Missense_Mutation_p.D385N|EMR1_ENST00000450315.3_Missense_Mutation_p.D349N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	526	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D526N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGAGAAGAAAGACGGCTTCTC	0.483																																					p.D526N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	19						.						106.0	96.0	99.0					19																	6919714		2203	4300	6503	6870714	SO:0001583	missense	2015	exon13			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1576G>A	19.37:g.6919714G>A	ENSP00000311545:p.Asp526Asn		6870714	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645150	0.47258	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.78003	-1.09;-1.12;-1.14;0.06;0.37	3.99	2.95	0.34219	.	.	.	.	.	T	0.68274	0.2983	L	0.27053	0.805	0.09310	N	1	P;P;P;D;P	0.53619	0.835;0.835;0.873;0.961;0.799	B;B;P;P;B	0.49637	0.42;0.42;0.544;0.617;0.343	T	0.55114	-0.8191	9	0.17832	T	0.49	.	7.3129	0.26485	0.1218:0.0:0.8782:0.0	.	349;385;526;474;526	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	526;526;474;526;385;349	ENSP00000311545:D526N;ENSP00000370811:D474N;ENSP00000250572:D526N;ENSP00000370814:D385N;ENSP00000405974:D349N	ENSP00000250572:D526N	D	+	1	0	EMR1	6870714	0.117000	0.22190	0.043000	0.18650	0.044000	0.14063	1.713000	0.37951	1.021000	0.39600	0.491000	0.48974	GAC		0.483	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
ARHGEF18	23370	broad.mit.edu	37	19	7516049	7516049	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7516049C>A	ENST00000359920.6	+	6	1441	c.1188C>A	c.(1186-1188)ttC>ttA	p.F396L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S354Y|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.F238L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	396	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F238L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TTGGCAACTTCTCCATCGTGC	0.483																																					p.F238L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C714A	19						.						104.0	96.0	98.0					19																	7516049		2203	4300	6503	7422049	SO:0001583	missense	23370	exon7			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1188C>A	19.37:g.7516049C>A	ENSP00000352995:p.Phe396Leu		7422049	NM_015318	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	5.130	0.209666	0.09757	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.61980	0.06;0.06	5.21	-7.14	0.01527	Dbl homology (DH) domain (5);	0.464806	0.19889	N	0.103763	T	0.21801	0.0525	N	0.01109	-1.01	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.26292	-1.0107	10	0.27082	T	0.32	-0.1102	7.8419	0.29403	0.0:0.4976:0.2071:0.2953	.	238;396	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	L	238;396	ENSP00000319200:F238L;ENSP00000352995:F396L	ENSP00000319200:F238L	F	+	3	2	ARHGEF18	7422049	0.000000	0.05858	0.010000	0.14722	0.014000	0.08584	-2.919000	0.00694	-1.323000	0.02275	-0.177000	0.13119	TTC		0.483	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
ARHGEF18	23370	broad.mit.edu	37	19	7518468	7518468	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7518468C>T	ENST00000359920.6	+	7	1660	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S427L|ARHGEF18_ENST00000319670.9_Silent_p.I311I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	469					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I311I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCAGGGAGATCGCAGGGAAGA	0.557																																					p.I311I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	19						.						116.0	103.0	108.0					19																	7518468		2203	4300	6503	7424468	SO:0001819	synonymous_variant	23370	exon8			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1407C>T	19.37:g.7518468C>T			7424468	NM_015318	A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	CCDS45946.1																																																																																				0.557	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	
MCOLN1	57192	broad.mit.edu	37	19	7593485	7593485	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7593485G>T	ENST00000264079.6	+	8	1005	c.880G>T	c.(880-882)Gac>Tac	p.D294Y		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	294					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)	p.D294Y(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCCGCAGGAGACAACAGCTT	0.647																																					p.D294Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880T	19						.						127.0	80.0	96.0					19																	7593485		2203	4300	6503	7499485	SO:0001583	missense	57192	exon8			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.880G>T	19.37:g.7593485G>T	ENSP00000264079:p.Asp294Tyr		7499485	NM_020533	D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702460	0.68501	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.75367	-0.93	5.32	5.32	0.75619	.	0.096084	0.64402	D	0.000001	T	0.72598	0.3480	M	0.71036	2.16	0.80722	D	1	B;P	0.39831	0.434;0.69	B;B	0.40636	0.242;0.335	T	0.70726	-0.4793	10	0.06757	T	0.87	.	16.4854	0.84183	0.0:0.0:1.0:0.0	.	259;294	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	Y	294;259	ENSP00000264079:D294Y	ENSP00000264079:D294Y	D	+	1	0	MCOLN1	7499485	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.025000	0.64097	2.492000	0.84095	0.563000	0.77884	GAC		0.647	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533	
PNPLA6	10908	broad.mit.edu	37	19	7615271	7615271	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7615271C>T	ENST00000221249.6	+	18	2216	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000545201.2_Silent_p.F569F|PNPLA6_ENST00000450331.3_Silent_p.F595F|PNPLA6_ENST00000414982.3_Silent_p.F643F|PNPLA6_ENST00000600737.1_Silent_p.F634F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	634					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.F595F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGATGGACTTCGCCATCGACT	0.687																																					p.F643F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1929T	19						.						43.0	42.0	42.0					19																	7615271		2199	4296	6495	7521271	SO:0001819	synonymous_variant	10908	exon17			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1785C>T	19.37:g.7615271C>T			7521271	NM_001166111	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
CAMSAP3	57662	broad.mit.edu	37	19	7682455	7682455	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7682455G>A	ENST00000160298.4	+	16	3453	c.3352G>A	c.(3352-3354)Gcc>Acc	p.A1118T	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A1145T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1118	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.A1118T(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGAACCCAGCGCCAAGTCCAA	0.602																																					p.A1145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3433A	19						.						91.0	93.0	92.0					19																	7682455		2102	4234	6336	7588455	SO:0001583	missense	57662	exon18			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3352G>A	19.37:g.7682455G>A	ENSP00000160298:p.Ala1118Thr		7588455	NM_001080429	Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.535892	0.64972	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15139	2.45;2.45	5.27	2.02	0.26589	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.133504	0.50627	D	0.000118	T	0.22475	0.0542	L	0.28115	0.83	0.33117	D	0.541249	D;P;D	0.60160	0.987;0.534;0.984	P;B;P	0.62740	0.906;0.218;0.849	T	0.21042	-1.0257	10	0.62326	D	0.03	-25.4416	9.2717	0.37675	0.2382:0.0:0.7618:0.0	.	1129;1118;1145	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	T	1145;1118	ENSP00000416797:A1145T;ENSP00000160298:A1118T	ENSP00000160298:A1118T	A	+	1	0	KIAA1543	7588455	0.996000	0.38824	0.511000	0.27724	0.544000	0.35116	2.553000	0.45837	0.242000	0.21303	0.462000	0.41574	GCC		0.602	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362	
STXBP2	6813	broad.mit.edu	37	19	7705692	7705692	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7705692G>A	ENST00000221283.5	+	5	353	c.322G>A	c.(322-324)Gac>Aac	p.D108N	STXBP2_ENST00000441779.2_Missense_Mutation_p.D119N|STXBP2_ENST00000414284.2_Missense_Mutation_p.D105N|CTD-3214H19.4_ENST00000595866.1_3'UTR	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	108					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.D108N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTCACCGACAGTGAGTG	0.617																																					p.D108N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	19						.						71.0	69.0	70.0					19																	7705692		2203	4300	6503	7611692	SO:0001583	missense	6813	exon5			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.322G>A	19.37:g.7705692G>A	ENSP00000221283:p.Asp108Asn		7611692	NM_006949	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100676	0.76983	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902;ENST00000320400	T;T;T	0.78816	-1.21;-1.21;-1.21	5.13	5.13	0.70059	.	0.110512	0.64402	D	0.000013	D	0.85687	0.5754	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.964;0.979	D	0.87042	0.2141	10	0.72032	D	0.01	0.0937	16.0692	0.80911	0.0:0.0:1.0:0.0	.	119;105;108	E7EQD5;Q15833-2;Q15833	.;.;STXB2_HUMAN	N	108;105;119;108;298	ENSP00000221283:D108N;ENSP00000409471:D105N;ENSP00000413606:D119N	ENSP00000221283:D108N	D	+	1	0	STXBP2	7611692	1.000000	0.71417	0.978000	0.43139	0.179000	0.23085	9.540000	0.98080	2.368000	0.80403	0.655000	0.94253	GAC		0.617	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
CLEC4G	339390	broad.mit.edu	37	19	7794348	7794348	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7794348C>T	ENST00000328853.5	-	9	854	c.786G>A	c.(784-786)gaG>gaA	p.E262E	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	262	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E262E(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TGACACAGTTCTCGCGCCCCC	0.602																																					p.E262E	Esophageal Squamous(146;540 1807 3349 19438 30853)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	19						.						68.0	57.0	61.0					19																	7794348		2203	4300	6503	7700348	SO:0001819	synonymous_variant	339390	exon9			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.786G>A	19.37:g.7794348C>T			7700348	NM_198492		Silent	SNP	ENST00000328853.5	37	CCDS12185.1																																																																																				0.602	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492	
CLEC4M	10332	broad.mit.edu	37	19	7831059	7831059	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:7831059C>A	ENST00000327325.5	+	4	868	c.750C>A	c.(748-750)atC>atA	p.I250I	CLEC4M_ENST00000394122.2_Silent_p.I238I|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000248228.4_Silent_p.I228I|CLEC4M_ENST00000334806.5_Silent_p.I199I|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000596363.1_Silent_p.I222I|CLEC4M_ENST00000357361.2_Silent_p.I250I|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	250	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.I250I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGCAGCAAATCTATCAAGAAC	0.507																																					p.I199I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C597A	19						.						145.0	148.0	147.0					19																	7831059		2203	4300	6503	7737059	SO:0001819	synonymous_variant	10332	exon4			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.750C>A	19.37:g.7831059C>A			7737059	NM_001144904	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	CCDS12187.1																																																																																				0.507	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257	
FBN3	84467	broad.mit.edu	37	19	8137014	8137014	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8137014G>A	ENST00000600128.1	-	63	8420	c.8006C>T	c.(8005-8007)tCg>tTg	p.S2669L	FBN3_ENST00000270509.2_Missense_Mutation_p.S2669L|FBN3_ENST00000601739.1_Missense_Mutation_p.S2669L			Q75N90	FBN3_HUMAN	fibrillin 3	2669						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S2669L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTTCAGACGAGAGCAGCTC	0.657																																					p.S2669L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8006T	19						.						146.0	144.0	144.0					19																	8137014		2203	4300	6503	8043014	SO:0001583	missense	84467	exon62				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8006C>T	19.37:g.8137014G>A	ENSP00000470498:p.Ser2669Leu		8043014	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486479	0.63962	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.89196	-2.48	4.75	3.71	0.42584	.	0.136830	0.50627	U	0.000113	D	0.85622	0.5739	M	0.76727	2.345	0.51767	D	0.999937	P;P	0.48503	0.873;0.911	B;B	0.33121	0.077;0.158	D	0.86155	0.1590	10	0.87932	D	0	.	12.6424	0.56716	0.0816:0.0:0.9184:0.0	.	2669;732	Q75N90;Q6ZNB8	FBN3_HUMAN;.	L	2669;732	ENSP00000270509:S2669L	ENSP00000270509:S2669L	S	-	2	0	FBN3	8043014	1.000000	0.71417	0.002000	0.10522	0.045000	0.14185	6.489000	0.73641	0.999000	0.39023	0.609000	0.83330	TCG		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
FBN3	84467	broad.mit.edu	37	19	8171113	8171113	+	Silent	SNP	G	G	A	rs111927115		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8171113G>A	ENST00000600128.1	-	38	5106	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	FBN3_ENST00000270509.2_Silent_p.I1564I|FBN3_ENST00000601739.1_Silent_p.I1564I			Q75N90	FBN3_HUMAN	fibrillin 3	1564	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1564I(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCACTCGTCGATGTCTGTCA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20175	0.0		0.0	False		,,,				2504	0.001				p.I1564I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4692T	19						.	G		0,4406		0,0,2203	82.0	65.0	71.0		4692	-0.9	1.0	19	dbSNP_132	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FBN3	NM_032447.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1564/2810	8171113	2,13004	2203	4300	6503	8077113	SO:0001819	synonymous_variant	84467	exon37				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4692C>T	19.37:g.8171113G>A			8077113	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
CD320	51293	broad.mit.edu	37	19	8367692	8367692	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8367692G>A	ENST00000301458.5	-	4	739	c.675C>T	c.(673-675)agC>agT	p.S225S	CD320_ENST00000596246.1_5'Flank|CD320_ENST00000537716.2_Silent_p.S183S	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	225					cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S225S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						AGGCAGTTGGGCTTCCAGACT	0.617																																					p.S225S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675T	19						.						50.0	50.0	50.0					19																	8367692		2203	4300	6503	8273692	SO:0001819	synonymous_variant	51293	exon4			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.675C>T	19.37:g.8367692G>A			8273692	NM_016579	B2RDS5|D6W668|F5H6D3|Q53HF7	Silent	SNP	ENST00000301458.5	37	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	3.319	-0.139058	0.06669	.	.	ENSG00000167775	ENST00000323539	.	.	.	4.01	0.716	0.18191	.	.	.	.	.	T	0.23410	0.0566	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	-14.7966	3.6098	0.08055	0.2096:0.0:0.5948:0.1956	.	.	.	.	S	56	.	.	P	-	1	0	CD320	8273692	0.021000	0.18746	0.001000	0.08648	0.005000	0.04900	0.185000	0.16958	0.270000	0.21984	-0.152000	0.13540	CCC		0.617	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	
ANGPTL4	51129	broad.mit.edu	37	19	8436306	8436306	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8436306C>T	ENST00000301455.2	+	6	1110	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RAB11B-AS1_ENST00000597407.1_RNA|RAB11B-AS1_ENST00000597785.1_RNA|ANGPTL4_ENST00000393962.2_Silent_p.G275G|ANGPTL4_ENST00000541807.1_Silent_p.G146G|RAB11B-AS1_ENST00000593581.1_RNA	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)	p.G313G(1)		large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCCAGCTGGGCGCCACCACCG	0.667																																					p.G275G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C825T	19						.						40.0	36.0	37.0					19																	8436306		2203	4299	6502	8342306	SO:0001819	synonymous_variant	51129	exon5			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.939C>T	19.37:g.8436306C>T			8342306	NM_001039667	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Silent	SNP	ENST00000301455.2	37	CCDS12200.1																																																																																				0.667	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314	
HNRNPM	4670	broad.mit.edu	37	19	8553642	8553642	+	Silent	SNP	C	C	T	rs201359498		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8553642C>T	ENST00000325495.4	+	16	2138	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F	HNRNPM_ENST00000602219.1_3'UTR|HNRNPM_ENST00000348943.3_Silent_p.F660F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	699	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.F699F(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTTAAGTTCGAGTCGCCAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		16567	0.001		0.0	False		,,,				2504	0.0				p.F699F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2097T	19						.	C	,	1,4405	2.1+/-5.4	0,1,2202	138.0	121.0	127.0		2097,1980	-0.1	1.0	19		127	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HNRNPM	NM_005968.4,NM_031203.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	699/731,660/692	8553642	1,13005	2203	4300	6503	8459642	SO:0001819	synonymous_variant	4670	exon16			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.2097C>T	19.37:g.8553642C>T			8459642	NM_005968	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	CCDS12203.1																																																																																				0.547	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		
ADAMTS10	81794	broad.mit.edu	37	19	8661280	8661280	+	Silent	SNP	G	G	A	rs371217540		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8661280G>A	ENST00000597188.1	-	10	1371	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.G367G	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	367	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G367G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CACACATTCCGCCCACCGGGG	0.662																																					p.G367G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	19						.	G		2,4404	2.1+/-5.4	0,2,2201	35.0	32.0	33.0		1101	-9.5	0.6	19		33	0,8600		0,0,4300	no	coding-synonymous	ADAMTS10	NM_030957.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		367/1104	8661280	2,13004	2203	4300	6503	8567280	SO:0001819	synonymous_variant	81794	exon10			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1101C>T	19.37:g.8661280G>A			8567280	NM_030957	M0QZE4	Silent	SNP	ENST00000597188.1	37	CCDS12206.1																																																																																				0.662	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MBD3L1	85509	broad.mit.edu	37	19	8953598	8953598	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8953598G>A	ENST00000595891.1	+	3	475	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	MBD3L1_ENST00000305625.2_Missense_Mutation_p.E82K			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	82	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E82K(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CAGTGCAGGAGAACTTTCAAG	0.522																																					p.E82K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	19						.						96.0	89.0	91.0					19																	8953598		2203	4300	6503	8814598	SO:0001583	missense	85509	exon1			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.244G>A	19.37:g.8953598G>A	ENSP00000471575:p.Glu82Lys		8814598	NM_145208	B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863782	0.51482	.	.	ENSG00000170948	ENST00000305625	T	0.51574	0.7	3.75	2.71	0.32032	.	0.000000	0.33457	N	0.004895	T	0.59998	0.2235	M	0.80422	2.495	0.20926	N	0.999821	D	0.57257	0.979	P	0.57679	0.825	T	0.52419	-0.8578	10	0.72032	D	0.01	-23.5876	7.4088	0.27006	0.119:0.0:0.881:0.0	.	82	Q8WWY6	MB3L1_HUMAN	K	82	ENSP00000304198:E82K	ENSP00000304198:E82K	E	+	1	0	MBD3L1	8814598	0.549000	0.26481	0.004000	0.12327	0.015000	0.08874	3.162000	0.50755	1.130000	0.42092	0.655000	0.94253	GAA		0.522	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208	
MUC16	94025	broad.mit.edu	37	19	8987234	8987234	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:8987234G>A	ENST00000397910.4	-	68	42056	c.41853C>T	c.(41851-41853)atC>atT	p.I13951I	MUC16_ENST00000380951.5_Silent_p.I592I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13976	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.I13951I(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						CGTTGTCTGTGATGTTGAACT	0.612																																					p.I13951I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C41853T	19						.						112.0	113.0	112.0					19																	8987234		2127	4248	6375	8848234	SO:0001819	synonymous_variant	94025	exon68			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.41853C>T	19.37:g.8987234G>A			8848234	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	0.498	-0.872269	0.02570	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.61	2.58	0.30949	.	.	.	.	.	T	0.41903	0.1179	.	.	.	.	.	.	.	.	.	.	.	.	T	0.50841	-0.8780	3	.	.	.	.	7.3496	0.26682	0.1203:0.0:0.8797:0.0	.	.	.	.	L	791	.	.	S	-	2	0	MUC16	8848234	1.000000	0.71417	0.921000	0.36526	0.001000	0.01503	1.167000	0.31847	1.102000	0.41551	-0.203000	0.12734	TCA		0.612	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9028332	9028332	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9028332C>A	ENST00000397910.4	-	11	36663	c.36460G>T	c.(36460-36462)Gac>Tac	p.D12154Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12156	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.D12154Y(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						AGTCCGAGGTCTTCAGGGTCA	0.567																																					p.D12154Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G36460T	19						.						169.0	172.0	171.0					19																	9028332		2104	4221	6325	8889332	SO:0001583	missense	94025	exon11			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.36460G>T	19.37:g.9028332C>A	ENSP00000381008:p.Asp12154Tyr		8889332	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	6.397	0.441343	0.12164	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	2.63	2.63	0.31362	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	.	.	.	P	0.42620	0.785	B	0.34931	0.192	T	0.09773	-1.0659	8	0.87932	D	0	.	8.8909	0.35432	0.0:1.0:0.0:0.0	.	12154	B5ME49	.	Y	12154	ENSP00000381008:D12154Y	ENSP00000381008:D12154Y	D	-	1	0	MUC16	8889332	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.265000	0.08644	1.757000	0.51966	0.591000	0.81541	GAC		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9038404	9038404	+	Missense_Mutation	SNP	G	G	A	rs369910554		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9038404G>A	ENST00000397910.4	-	7	36318	c.36115C>T	c.(36115-36117)Cgg>Tgg	p.R12039W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12041	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.R12039W(1)|p.R7672W(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						GTCCAGTACCGACGGTTATAA	0.488																																					p.R12039W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C36115T	19						.	G	TRP/ARG	0,3788		0,0,1894	118.0	113.0	115.0		36115	2.8	0.0	19		115	1,8235		0,1,4117	no	missense	MUC16	NM_024690.2	101	0,1,6011	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	12039/14508	9038404	1,12023	1894	4118	6012	8899404	SO:0001583	missense	94025	exon7			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.36115C>T	19.37:g.9038404G>A	ENSP00000381008:p.Arg12039Trp		8899404	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	6.355	0.433550	0.12045	0.0	1.21E-4	ENSG00000181143	ENST00000397910	T	0.02258	4.37	2.81	2.81	0.32909	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	.	.	.	D	0.89917	1.0	D	0.67725	0.953	T	0.49113	-0.8973	8	0.87932	D	0	.	9.3034	0.37861	0.0:0.0:1.0:0.0	.	12039	B5ME49	.	W	12039	ENSP00000381008:R12039W	ENSP00000381008:R12039W	R	-	1	2	MUC16	8899404	0.009000	0.17119	0.003000	0.11579	0.030000	0.12068	2.079000	0.41577	1.884000	0.54569	0.411000	0.27672	CGG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9046340	9046340	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9046340G>A	ENST00000397910.4	-	5	35494	c.35291C>T	c.(35290-35292)tCt>tTt	p.S11764F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11766	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.S11764F(1)|p.S7397F(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						CATACCAGGAGAATGAGTCAA	0.468																																					p.S11764F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C35291T	19						.						132.0	126.0	128.0					19																	9046340		2018	4196	6214	8907340	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.35291C>T	19.37:g.9046340G>A	ENSP00000381008:p.Ser11764Phe		8907340	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.928	0.540898	0.13250	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.57	1.43	0.22495	.	.	.	.	.	T	0.03477	0.0100	L	0.55990	1.75	.	.	.	B	0.32573	0.376	B	0.31614	0.133	T	0.17930	-1.0353	8	0.87932	D	0	.	5.2108	0.15316	0.2717:0.0:0.7283:0.0	.	11764	B5ME49	.	F	11764	ENSP00000381008:S11764F	ENSP00000381008:S11764F	S	-	2	0	MUC16	8907340	0.012000	0.17670	0.005000	0.12908	0.084000	0.17831	0.856000	0.27818	0.484000	0.27630	0.556000	0.70494	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9046491	9046491	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9046491C>A	ENST00000397910.4	-	5	35343	c.35140G>T	c.(35140-35142)Gat>Tat	p.D11714Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11716	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.D11714Y(1)|p.D7347N(1)|p.D7347Y(1)|p.D11714N(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						GGTGTGGCATCTGGACTACTA	0.507																																					p.D11714Y												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G35140T	19						.						131.0	125.0	127.0					19																	9046491		1986	4162	6148	8907491	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.35140G>T	19.37:g.9046491C>A	ENSP00000381008:p.Asp11714Tyr		8907491	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.300	0.054906	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.02158	4.42	3.03	-0.373	0.12516	.	.	.	.	.	T	0.01765	0.0056	L	0.32530	0.975	.	.	.	P	0.37101	0.582	B	0.31614	0.133	T	0.42699	-0.9436	8	0.87932	D	0	.	4.2445	0.10665	0.1818:0.598:0.0:0.2202	.	11714	B5ME49	.	Y	11714	ENSP00000381008:D11714Y	ENSP00000381008:D11714Y	D	-	1	0	MUC16	8907491	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.532000	0.06164	0.027000	0.15297	-0.265000	0.10407	GAT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9049838	9049838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9049838G>T	ENST00000397910.4	-	5	31996	c.31793C>A	c.(31792-31794)tCa>tAa	p.S10598*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10600	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.S6231*(1)|p.S10598*(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						GATAACCCATGAAGCTGTTGT	0.473																																					p.S10598X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C31793A	19						.						124.0	115.0	118.0					19																	9049838		1896	4112	6008	8910838	SO:0001587	stop_gained	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.31793C>A	19.37:g.9049838G>T	ENSP00000381008:p.Ser10598*		8910838	NM_024690	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	60	49.125572	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.11	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9186	0.19070	0.1439:0.0:0.8561:0.0	.	.	.	.	X	10598	.	ENSP00000381008:S10598X	S	-	2	0	MUC16	8910838	0.034000	0.19679	0.005000	0.12908	0.004000	0.04260	2.457000	0.45005	0.859000	0.35456	0.450000	0.29827	TCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9057863	9057863	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9057863G>A	ENST00000397910.4	-	3	29786	c.29583C>T	c.(29581-29583)ttC>ttT	p.F9861F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9863	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.F9861F(1)|p.F5494F(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						TAGTCTCAGAGAAGGCAGGAT	0.478																																					p.F9861F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C29583T	19						.						136.0	128.0	131.0					19																	9057863		1983	4168	6151	8918863	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29583C>T	19.37:g.9057863G>A			8918863	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9058707	9058707	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9058707G>T	ENST00000397910.4	-	3	28942	c.28739C>A	c.(28738-28740)tCt>tAt	p.S9580Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9582	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S9580Y(1)|p.S5213Y(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						AGGGGTCAGAGATGACATTGA	0.507																																					p.S9580Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C28739A	19						.						91.0	85.0	87.0					19																	9058707		2004	4172	6176	8919707	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28739C>A	19.37:g.9058707G>T	ENSP00000381008:p.Ser9580Tyr		8919707	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.157	0.027589	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.5	1.39	0.22231	.	.	.	.	.	T	0.05686	0.0149	L	0.29908	0.895	.	.	.	D	0.58268	0.982	D	0.64877	0.93	T	0.33292	-0.9874	8	0.87932	D	0	.	4.275	0.10804	0.2268:0.0:0.7732:0.0	.	9580	B5ME49	.	Y	9580	ENSP00000381008:S9580Y	ENSP00000381008:S9580Y	S	-	2	0	MUC16	8919707	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	1.078000	0.30754	0.545000	0.28902	0.305000	0.20034	TCT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9058850	9058850	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9058850G>T	ENST00000397910.4	-	3	28799	c.28596C>A	c.(28594-28596)ctC>ctA	p.L9532L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9534	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L9532L(1)|p.L5165L(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						AAGAGGAATAGAGTTCCTCTG	0.488																																					p.L9532L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C28596A	19						.						118.0	117.0	118.0					19																	9058850		1965	4148	6113	8919850	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28596C>A	19.37:g.9058850G>T			8919850	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9059476	9059476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9059476C>A	ENST00000397910.4	-	3	28173	c.27970G>T	c.(27970-27972)Gaa>Taa	p.E9324*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9326	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E4957*(1)|p.E9324*(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						GAGATGGCTTCTGTCCTGGAG	0.507																																					p.E9324X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G27970T	19						.						160.0	155.0	156.0					19																	9059476		1994	4179	6173	8920476	SO:0001587	stop_gained	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27970G>T	19.37:g.9059476C>A	ENSP00000381008:p.Glu9324*		8920476	NM_024690	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	43.413986	0.99986	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.43	0.128	0.14733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.5254	0.07757	0.0:0.5709:0.2676:0.1615	.	.	.	.	X	9324	.	ENSP00000381008:E9324X	E	-	1	0	MUC16	8920476	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.273000	0.18662	0.110000	0.17919	0.461000	0.40582	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9067212	9067212	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9067212G>T	ENST00000397910.4	-	3	20437	c.20234C>A	c.(20233-20235)tCt>tAt	p.S6745Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6747	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.S6745Y(2)|p.S2378Y(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						CTGTGATGTAGAGCCAAGAGG	0.498																																					p.S6745Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C20234A	19						.						283.0	278.0	280.0					19																	9067212		2196	4287	6483	8928212	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20234C>A	19.37:g.9067212G>T	ENSP00000381008:p.Ser6745Tyr		8928212	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.246	-0.154253	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.2	-1.7	0.08159	.	.	.	.	.	T	0.01695	0.0054	N	0.14661	0.345	.	.	.	D	0.53462	0.96	B	0.41332	0.354	T	0.45086	-0.9285	8	0.87932	D	0	.	2.8643	0.05596	0.327:0.2444:0.4287:0.0	.	6745	B5ME49	.	Y	6745	ENSP00000381008:S6745Y	ENSP00000381008:S6745Y	S	-	2	0	MUC16	8928212	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.344000	0.07780	-0.293000	0.08986	0.386000	0.25728	TCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9068130	9068130	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9068130T>G	ENST00000397910.4	-	3	19519	c.19316A>C	c.(19315-19317)aAa>aCa	p.K6439T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6441	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.K6439T(2)|p.K2072T(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						TTCTTCGGATTTTGTCAGGCC	0.512																																					p.K6439T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A19316C	19						.						268.0	261.0	263.0					19																	9068130		1994	4173	6167	8929130	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19316A>C	19.37:g.9068130T>G	ENSP00000381008:p.Lys6439Thr		8929130	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.548	-0.092322	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02763	4.17	2.05	-0.196	0.13232	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.17667	0.023	B	0.10450	0.005	T	0.41034	-0.9531	8	0.87932	D	0	.	4.3892	0.11332	0.0:0.3668:0.0:0.6332	.	6439	B5ME49	.	T	6439	ENSP00000381008:K6439T	ENSP00000381008:K6439T	K	-	2	0	MUC16	8929130	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.295000	0.02764	-0.114000	0.11936	0.149000	0.16113	AAA		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9069155	9069155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9069155G>T	ENST00000397910.4	-	3	18494	c.18291C>A	c.(18289-18291)ttC>ttA	p.F6097L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6099	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.F6097L(2)|p.F1730L(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						ACACACTGGAGAAAACAGTGT	0.493																																					p.F6097L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C18291A	19						.						73.0	79.0	77.0					19																	9069155		2093	4231	6324	8930155	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18291C>A	19.37:g.9069155G>T	ENSP00000381008:p.Phe6097Leu		8930155	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.294	0.053763	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	1.11	-0.031	0.13911	.	.	.	.	.	T	0.00936	0.0031	N	0.00583	-1.355	.	.	.	B	0.12630	0.006	B	0.04013	0.001	T	0.44997	-0.9291	8	0.87932	D	0	.	3.0074	0.06033	0.6935:0.0:0.3065:0.0	.	6097	B5ME49	.	L	6097	ENSP00000381008:F6097L	ENSP00000381008:F6097L	F	-	3	2	MUC16	8930155	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.243000	0.18106	-0.045000	0.13468	0.163000	0.16589	TTC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9070925	9070925	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9070925G>T	ENST00000397910.4	-	3	16724	c.16521C>A	c.(16519-16521)gcC>gcA	p.A5507A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5509	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.A5507A(2)|p.A1140A(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						CATAAGAAAAGGCAGTATTTG	0.493																																					p.A5507A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C16521A	19						.						133.0	126.0	129.0					19																	9070925		2001	4176	6177	8931925	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16521C>A	19.37:g.9070925G>T			8931925	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9071670	9071670	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9071670G>T	ENST00000397910.4	-	3	15979	c.15776C>A	c.(15775-15777)tCt>tAt	p.S5259Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5261	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.S5259Y(2)|p.S892Y(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						TGTCTTAATAGAGGAGGTGAA	0.502																																					p.S5259Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C15776A	19						.						170.0	166.0	167.0					19																	9071670		2033	4184	6217	8932670	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15776C>A	19.37:g.9071670G>T	ENSP00000381008:p.Ser5259Tyr		8932670	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.659	-0.511943	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.94	-3.35	0.04928	.	.	.	.	.	T	0.01489	0.0048	N	0.14661	0.345	.	.	.	D	0.53462	0.96	B	0.38156	0.266	T	0.43343	-0.9397	8	0.87932	D	0	.	3.3859	0.07272	0.452:0.2135:0.3345:0.0	.	5259	B5ME49	.	Y	5259	ENSP00000381008:S5259Y	ENSP00000381008:S5259Y	S	-	2	0	MUC16	8932670	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.103000	0.15292	-0.773000	0.04596	-1.278000	0.01390	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9072316	9072316	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9072316G>T	ENST00000397910.4	-	3	15333	c.15130C>A	c.(15130-15132)Ctg>Atg	p.L5044M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5046	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.L5044M(2)|p.L677M(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						GGTGAGGACAGAAAGGAAGAG	0.478																																					p.L5044M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C15130A	19						.						83.0	80.0	81.0					19																	9072316		1955	4149	6104	8933316	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15130C>A	19.37:g.9072316G>T	ENSP00000381008:p.Leu5044Met		8933316	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.350	0.064355	0.08388	.	.	ENSG00000181143	ENST00000397910	T	0.26660	1.72	1.59	-1.1	0.09872	.	.	.	.	.	T	0.13713	0.0332	L	0.40543	1.245	.	.	.	D	0.53462	0.96	B	0.34452	0.183	T	0.21930	-1.0231	8	0.87932	D	0	.	3.5819	0.07957	0.2685:0.4275:0.304:0.0	.	5044	B5ME49	.	M	5044	ENSP00000381008:L5044M	ENSP00000381008:L5044M	L	-	1	2	MUC16	8933316	.	.	0.000000	0.03702	0.353000	0.29299	.	.	-0.145000	0.11294	0.282000	0.19409	CTG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9073640	9073640	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9073640T>C	ENST00000397910.4	-	3	14009	c.13806A>G	c.(13804-13806)ggA>ggG	p.G4602G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4604	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.G4602G(2)|p.G235G(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						TCTCTTTTCGTCCAGCAGTCA	0.498																																					p.G4602G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A13806G	19						.						93.0	88.0	90.0					19																	9073640		1998	4176	6174	8934640	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13806A>G	19.37:g.9073640T>C			8934640	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9075788	9075788	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9075788C>A	ENST00000397910.4	-	3	11861	c.11658G>T	c.(11656-11658)atG>atT	p.M3886I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3887	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.M3886I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGACAGAATTCATCATCTCAG	0.458																																					p.M3886I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11658T	19						.						108.0	99.0	102.0					19																	9075788		1986	4176	6162	8936788	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11658G>T	19.37:g.9075788C>A	ENSP00000381008:p.Met3886Ile		8936788	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.636	0.679915	0.14907	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.52	0.106	0.14540	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.43702	-0.9375	8	0.87932	D	0	.	3.3525	0.07158	0.0:0.4102:0.0:0.5898	.	3886	B5ME49	.	I	3886	ENSP00000381008:M3886I	ENSP00000381008:M3886I	M	-	3	0	MUC16	8936788	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	-2.134000	0.01307	-0.025000	0.13918	0.205000	0.17691	ATG		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9083587	9083587	+	Missense_Mutation	SNP	G	G	A	rs371402846		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9083587G>A	ENST00000397910.4	-	1	8431	c.8228C>T	c.(8227-8229)tCg>tTg	p.S2743L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2743	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2743L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTGTGATCGAACCTTCATA	0.468																																					p.S2743L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8228T	19						.						125.0	118.0	120.0					19																	9083587		1919	4115	6034	8944587	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8228C>T	19.37:g.9083587G>A	ENSP00000381008:p.Ser2743Leu		8944587	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.595	-0.831363	0.02713	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	7	0.87932	D	0	.	.	.	.	.	2743	B5ME49	.	L	2743	ENSP00000381008:S2743L	ENSP00000381008:S2743L	S	-	2	0	MUC16	8944587	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-1.465000	0.02357	-0.677000	0.05231	-0.671000	0.03813	TCG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9083847	9083847	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9083847C>A	ENST00000397910.4	-	1	8171	c.7968G>T	c.(7966-7968)gaG>gaT	p.E2656D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2656	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E2656D(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTTGTTGGCTCAGTGGCAG	0.522																																					p.E2656D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7968T	19						.						52.0	51.0	51.0					19																	9083847		2004	4174	6178	8944847	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7968G>T	19.37:g.9083847C>A	ENSP00000381008:p.Glu2656Asp		8944847	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.521	0.656682	0.14580	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	0.235	0.235	0.15431	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2656	B5ME49	.	D	2656	ENSP00000381008:E2656D	ENSP00000381008:E2656D	E	-	3	2	MUC16	8944847	0.003000	0.15002	0.519000	0.27824	0.522000	0.34438	-0.314000	0.08092	0.308000	0.22923	0.313000	0.20887	GAG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9083978	9083978	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9083978C>T	ENST00000397910.4	-	1	8040	c.7837G>A	c.(7837-7839)Gtc>Atc	p.V2613I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2613	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V2613I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATCTGTGACCAAAATCTTT	0.473																																					p.V2613I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7837A	19						.						97.0	94.0	95.0					19																	9083978		1931	4138	6069	8944978	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7837G>A	19.37:g.9083978C>T	ENSP00000381008:p.Val2613Ile		8944978	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.869	-0.460825	0.04508	.	.	ENSG00000181143	ENST00000397910	T	0.02421	4.3	0.225	0.225	0.15325	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	.	.	.	P	0.41597	0.756	P	0.49752	0.621	T	0.44574	-0.9319	7	0.87932	D	0	.	.	.	.	.	2613	B5ME49	.	I	2613	ENSP00000381008:V2613I	ENSP00000381008:V2613I	V	-	1	0	MUC16	8944978	0.006000	0.16342	0.011000	0.14972	0.011000	0.07611	-0.175000	0.09825	0.300000	0.22699	0.305000	0.20034	GTC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9084535	9084535	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9084535G>A	ENST00000397910.4	-	1	7483	c.7280C>T	c.(7279-7281)tCt>tTt	p.S2427F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2427	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2427F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGATGGAGAGGTGGCTGT	0.498																																					p.S2427F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7280T	19						.						80.0	83.0	82.0					19																	9084535		1984	4153	6137	8945535	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7280C>T	19.37:g.9084535G>A	ENSP00000381008:p.Ser2427Phe		8945535	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.868	-0.028513	0.07589	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.225	0.225	0.15325	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45279	-0.9272	7	0.87932	D	0	.	.	.	.	.	2427	B5ME49	.	F	2427	ENSP00000381008:S2427F	ENSP00000381008:S2427F	S	-	2	0	MUC16	8945535	0.036000	0.19791	0.433000	0.26760	0.437000	0.31866	0.926000	0.28804	0.300000	0.22699	0.305000	0.20034	TCT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9084646	9084646	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9084646G>A	ENST00000397910.4	-	1	7372	c.7169C>T	c.(7168-7170)tCc>tTc	p.S2390F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2390	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2390F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGACTGATGGAGGCTGTTTT	0.463																																					p.S2390F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7169T	19						.						117.0	115.0	116.0					19																	9084646		1980	4172	6152	8945646	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7169C>T	19.37:g.9084646G>A	ENSP00000381008:p.Ser2390Phe		8945646	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.883	-0.728011	0.03135	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.225	0.225	0.15325	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45279	-0.9272	7	0.87932	D	0	.	.	.	.	.	2390	B5ME49	.	F	2390	ENSP00000381008:S2390F	ENSP00000381008:S2390F	S	-	2	0	MUC16	8945646	0.010000	0.17322	0.038000	0.18304	0.039000	0.13416	-0.056000	0.11787	0.300000	0.22699	0.305000	0.20034	TCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9085065	9085065	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9085065G>T	ENST00000397910.4	-	1	6953	c.6750C>A	c.(6748-6750)gtC>gtA	p.V2250V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2250	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V2250V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAAAGGAGACAGTGGGAA	0.463																																					p.V2250V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6750A	19						.						91.0	88.0	89.0					19																	9085065		1956	4157	6113	8946065	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6750C>A	19.37:g.9085065G>T			8946065	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9085146	9085146	+	Silent	SNP	G	G	A	rs73495780	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9085146G>A	ENST00000397910.4	-	1	6872	c.6669C>T	c.(6667-6669)agC>agT	p.S2223S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2223	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2223S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGACCTGCGCTGTTTACTG	0.488																																					p.S2223S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6669T	19						.						115.0	111.0	112.0					19																	9085146		1984	4167	6151	8946146	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6669C>T	19.37:g.9085146G>A			8946146	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9085583	9085583	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9085583A>C	ENST00000397910.4	-	1	6435	c.6232T>G	c.(6232-6234)Tct>Gct	p.S2078A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2078	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2078A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAACCCCAGAATGGCCTGAG	0.473																																					p.S2078A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6232G	19						.						159.0	152.0	154.0					19																	9085583		1915	4126	6041	8946583	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6232T>G	19.37:g.9085583A>C	ENSP00000381008:p.Ser2078Ala		8946583	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.160	-1.082329	0.01888	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.19935	0.04	B	0.15052	0.012	T	0.44636	-0.9315	7	0.87932	D	0	.	.	.	.	rs34220940	2078	B5ME49	.	A	2078	ENSP00000381008:S2078A	ENSP00000381008:S2078A	S	-	1	0	MUC16	8946583	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-0.053000	0.11846	-0.738000	0.04817	-0.736000	0.03550	TCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9086714	9086714	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9086714A>G	ENST00000397910.4	-	1	5304	c.5101T>C	c.(5101-5103)Tcc>Ccc	p.S1701P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1701	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1701P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACAGAGGAAACTCTTCCT	0.483																																					p.S1701P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5101C	19						.						155.0	145.0	148.0					19																	9086714		1975	4168	6143	8947714	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5101T>C	19.37:g.9086714A>G	ENSP00000381008:p.Ser1701Pro		8947714	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	6.110	0.388576	0.11581	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.33	0.261	0.15592	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	.	.	.	D	0.62365	0.991	P	0.56088	0.791	T	0.44817	-0.9303	8	0.87932	D	0	.	3.0639	0.06209	0.7269:0.0:0.2731:0.0	.	1701	B5ME49	.	P	1701	ENSP00000381008:S1701P	ENSP00000381008:S1701P	S	-	1	0	MUC16	8947714	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.020000	0.12525	0.011000	0.14865	0.260000	0.18958	TCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9087069	9087069	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9087069G>T	ENST00000397910.4	-	1	4949	c.4746C>A	c.(4744-4746)tcC>tcA	p.S1582S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1582	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.S1582S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGGAAGGGGATGCTGAGG	0.493																																					p.S1582S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4746A	19						.						343.0	329.0	333.0					19																	9087069		2036	4190	6226	8948069	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4746C>A	19.37:g.9087069G>T			8948069	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9088600	9088600	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9088600G>A	ENST00000397910.4	-	1	3418	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1072	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.T1072I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGCCATGGTAAAATCCAT	0.468																																					p.T1072I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3215T	19						.						89.0	86.0	87.0					19																	9088600		1985	4178	6163	8949600	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3215C>T	19.37:g.9088600G>A	ENSP00000381008:p.Thr1072Ile		8949600	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.144	0.394776	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.51	1.51	0.23008	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.37451	0.25	T	0.45731	-0.9241	8	0.87932	D	0	.	6.4457	0.21875	0.0:0.0:1.0:0.0	.	1072	B5ME49	.	I	1072	ENSP00000381008:T1072I	ENSP00000381008:T1072I	T	-	2	0	MUC16	8949600	0.000000	0.05858	0.001000	0.08648	0.408000	0.30992	0.297000	0.19101	1.145000	0.42336	0.305000	0.20034	ACC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9089541	9089541	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9089541T>C	ENST00000397910.4	-	1	2477	c.2274A>G	c.(2272-2274)gaA>gaG	p.E758E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	758	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.E758E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTTGAGATTTCAGGAGTCC	0.478																																					p.E758E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2274G	19						.						189.0	195.0	193.0					19																	9089541		2101	4237	6338	8950541	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2274A>G	19.37:g.9089541T>C			8950541	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9089788	9089788	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9089788G>T	ENST00000397910.4	-	1	2230	c.2027C>A	c.(2026-2028)tCt>tAt	p.S676Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	676	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.S676Y(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGACAGAAGAAACCATTGT	0.527																																					p.S676Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2027A	19						.						118.0	117.0	117.0					19																	9089788		2041	4206	6247	8950788	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2027C>A	19.37:g.9089788G>T	ENSP00000381008:p.Ser676Tyr		8950788	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.258	-0.369886	0.05069	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.56	1.56	0.23342	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.56163	0.793	T	0.43829	-0.9367	8	0.87932	D	0	.	6.5643	0.22503	0.0:0.0:1.0:0.0	.	676	B5ME49	.	Y	676	ENSP00000381008:S676Y	ENSP00000381008:S676Y	S	-	2	0	MUC16	8950788	0.010000	0.17322	0.002000	0.10522	0.019000	0.09904	2.242000	0.43106	1.175000	0.42826	0.205000	0.17691	TCT		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR1M1	125963	broad.mit.edu	37	19	9204844	9204844	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9204844G>T	ENST00000429566.3	+	1	990	c.924G>T	c.(922-924)aaG>aaT	p.K308N		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K308N(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAACAGAAAGATCACCTCAT	0.498																																					p.K308N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G924T	19						.						31.0	30.0	30.0					19																	9204844		2203	4299	6502	9065844	SO:0001583	missense	125963	exon1				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.924G>T	19.37:g.9204844G>T	ENSP00000401966:p.Lys308Asn		9065844	NM_001004456	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	8.686	0.906292	0.17760	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.39406	1.08	2.98	0.701	0.18104	.	0.253832	0.27841	N	0.017635	T	0.25865	0.0630	N	0.25825	0.765	0.09310	N	1	P	0.41313	0.745	B	0.41236	0.351	T	0.10042	-1.0647	10	0.36615	T	0.2	.	5.2215	0.15371	0.6248:0.0:0.3752:0.0	.	308	Q8NGA1	OR1M1_HUMAN	N	311;308	ENSP00000401966:K308N	ENSP00000303195:K311N	K	+	3	2	OR1M1	9065844	0.000000	0.05858	0.020000	0.16555	0.073000	0.16967	-0.570000	0.05895	0.014000	0.14944	0.580000	0.79431	AAG		0.498	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1		
OR7G2	390882	broad.mit.edu	37	19	9213278	9213278	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9213278G>T	ENST00000305456.2	-	1	704	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I235I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AAGACAAAATGATTCCAGACA	0.453																																					p.I235I	Esophageal Squamous(67;143 1448 28637 40648)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C705A	19						.						119.0	107.0	111.0					19																	9213278		2203	4300	6503	9074278	SO:0001819	synonymous_variant	390882	exon1				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.705C>A	19.37:g.9213278G>T			9074278	NM_001005193	Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	CCDS32897.1																																																																																				0.453	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
OR7G2	390882	broad.mit.edu	37	19	9213680	9213680	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9213680C>A	ENST00000305456.2	-	1	302	c.303G>T	c.(301-303)aaG>aaT	p.K101N		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K101N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCACCAGCATCTTTGGGATCG	0.478																																					p.K101N	Esophageal Squamous(67;143 1448 28637 40648)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G303T	19						.						154.0	144.0	147.0					19																	9213680		2203	4300	6503	9074680	SO:0001583	missense	390882	exon1				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.303G>T	19.37:g.9213680C>A	ENSP00000303822:p.Lys101Asn		9074680	NM_001005193	Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	c	4.843	0.156659	0.09236	.	.	ENSG00000170923	ENST00000305456	T	0.01359	4.98	3.2	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.195754	0.24422	N	0.038671	T	0.02193	0.0068	M	0.74467	2.265	0.24350	N	0.994924	B	0.27679	0.185	B	0.29942	0.109	T	0.37126	-0.9719	10	0.66056	D	0.02	.	2.9872	0.05972	0.2172:0.5486:0.0:0.2342	.	80	Q8NG99	OR7G2_HUMAN	N	101	ENSP00000303822:K101N	ENSP00000303822:K101N	K	-	3	2	OR7G2	9074680	0.000000	0.05858	0.999000	0.59377	0.027000	0.11550	0.043000	0.13971	0.959000	0.37980	0.494000	0.49563	AAG		0.478	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1		
OR7G1	125962	broad.mit.edu	37	19	9225532	9225532	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9225532T>G	ENST00000541538.1	-	1	907	c.908A>C	c.(907-909)aAa>aCa	p.K303T	OR7G1_ENST00000293614.1_Missense_Mutation_p.K303T	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K303T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ACCAATAAGTTTCCTCAAAGC	0.408																																					p.K303T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A908C	19						.						111.0	100.0	104.0					19																	9225532		2203	4300	6503	9086532	SO:0001583	missense	125962	exon1				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.908A>C	19.37:g.9225532T>G	ENSP00000444134:p.Lys303Thr		9086532	NM_001005192	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	t	9.174	1.021875	0.19433	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.42131	0.98;0.98	2.99	-2.96	0.05547	.	0.690561	0.11902	U	0.518527	T	0.39989	0.1099	M	0.85099	2.735	0.09310	N	1	B	0.31193	0.312	B	0.29524	0.103	T	0.38045	-0.9679	10	0.52906	T	0.07	.	5.0586	0.14546	0.0:0.3876:0.1569:0.4555	.	303	Q8NGA0	OR7G1_HUMAN	T	303	ENSP00000293614:K303T;ENSP00000444134:K303T	ENSP00000293614:K303T	K	-	2	0	OR7G1	9086532	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.276000	0.08514	-0.672000	0.05266	0.410000	0.27636	AAA		0.408	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		
OR7G1	125962	broad.mit.edu	37	19	9225769	9225769	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9225769G>T	ENST00000541538.1	-	1	670	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	OR7G1_ENST00000293614.1_Missense_Mutation_p.S224Y	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S224Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCTCAGAACAGAGGTGACTAT	0.408																																					p.S224Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671A	19						.						78.0	81.0	80.0					19																	9225769		2203	4300	6503	9086769	SO:0001583	missense	125962	exon1				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.671C>A	19.37:g.9225769G>T	ENSP00000444134:p.Ser224Tyr		9086769	NM_001005192	Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	12.87	2.066605	0.36470	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.00164	8.64;8.64	3.78	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.215464	0.23389	U	0.048701	T	0.00384	0.0012	H	0.97440	4.005	0.09310	N	1	P	0.40909	0.732	B	0.44163	0.443	T	0.12451	-1.0547	10	0.87932	D	0	.	8.924	0.35630	0.2012:0.0:0.7988:0.0	.	224	Q8NGA0	OR7G1_HUMAN	Y	224	ENSP00000293614:S224Y;ENSP00000444134:S224Y	ENSP00000293614:S224Y	S	-	2	0	OR7G1	9086769	0.000000	0.05858	0.017000	0.16124	0.100000	0.18952	0.290000	0.18975	0.890000	0.36211	0.501000	0.49751	TCT		0.408	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1		
OR7G3	390883	broad.mit.edu	37	19	9236889	9236889	+	Silent	SNP	G	G	A	rs149297110		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9236889G>A	ENST00000305444.2	-	1	737	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I246I(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGAAACAACGATTAAATGTG	0.443																																					p.I246I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C738T	19						.	G		0,4406		0,0,2203	104.0	102.0	103.0		738	-7.4	0.0	19	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7G3	NM_001001958.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		246/313	9236889	1,13005	2203	4300	6503	9097889	SO:0001819	synonymous_variant	390883	exon1				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.738C>T	19.37:g.9236889G>A			9097889	NM_001001958	Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1		
ZNF317	57693	broad.mit.edu	37	19	9267967	9267967	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9267967C>T	ENST00000247956.6	+	4	491	c.186C>T	c.(184-186)gtC>gtT	p.V62V	ZNF317_ENST00000360385.3_Silent_p.V62V	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V62V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TCCAAGATGTCGCTGTGGACT	0.488																																					p.V62V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	19						.						97.0	89.0	92.0					19																	9267967		2203	4300	6503	9128967	SO:0001819	synonymous_variant	57693	exon4			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.186C>T	19.37:g.9267967C>T			9128967	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	ENST00000247956.6	37	CCDS12210.1																																																																																				0.488	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
ZNF317	57693	broad.mit.edu	37	19	9271604	9271604	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9271604G>A	ENST00000247956.6	+	7	1588	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF317_ENST00000360385.3_Missense_Mutation_p.R396Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AAGACCTTCCGAAACCAGTCC	0.527																																					p.R396Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187A	19						.						76.0	76.0	76.0					19																	9271604		2203	4300	6503	9132604	SO:0001583	missense	57693	exon6			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1283G>A	19.37:g.9271604G>A	ENSP00000247956:p.Arg428Gln		9132604	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229953	0.39399	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.04275	3.66;3.66	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35615	N	0.003091	T	0.11367	0.0277	L	0.42581	1.335	0.09310	N	1	D;D	0.71674	0.991;0.998	P;D	0.79108	0.461;0.992	T	0.03910	-1.0993	10	0.40728	T	0.16	-28.3521	8.0713	0.30691	0.0:0.2519:0.7481:0.0	.	396;428	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Q	428;396	ENSP00000247956:R428Q;ENSP00000353554:R396Q	ENSP00000247956:R428Q	R	+	2	0	ZNF317	9132604	0.000000	0.05858	0.068000	0.19968	0.844000	0.47949	-0.554000	0.06006	1.958000	0.56883	0.491000	0.48974	CGA		0.527	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
OR7D2	162998	broad.mit.edu	37	19	9296968	9296968	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9296968G>T	ENST00000344248.2	+	1	690	c.511G>T	c.(511-513)Gat>Tat	p.D171Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	171					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D171Y(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTTCTGTAAAGATTTTGAAAT	0.463																																					p.D171Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511T	19						.						165.0	159.0	161.0					19																	9296968		2203	4300	6503	9157968	SO:0001583	missense	162998	exon1			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.511G>T	19.37:g.9296968G>T	ENSP00000345563:p.Asp171Tyr		9157968	NM_175883	Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735144	0.30774	.	.	ENSG00000188000	ENST00000344248	T	0.37411	1.2	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.798077	0.10526	U	0.664430	T	0.49508	0.1561	M	0.64260	1.97	0.09310	N	1	D	0.58970	0.984	P	0.59115	0.852	T	0.28170	-1.0052	10	0.59425	D	0.04	.	8.5696	0.33561	0.0:0.2403:0.7597:0.0	.	171	Q96RA2	OR7D2_HUMAN	Y	171	ENSP00000345563:D171Y	ENSP00000345563:D171Y	D	+	1	0	OR7D2	9157968	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-1.946000	0.01536	1.583000	0.49898	0.511000	0.50034	GAT		0.463	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1		
OR7D2	162998	broad.mit.edu	37	19	9297079	9297079	+	Missense_Mutation	SNP	G	G	A	rs145118134	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9297079G>A	ENST00000344248.2	+	1	801	c.622G>A	c.(622-624)Gtt>Att	p.V208I		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	208					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V208I(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TGTGCTGGGCGTTTTTCCCCT	0.463													G|||	17	0.00339457	0.0	0.0	5008	,	,		19958	0.0159		0.0	False		,,,				2504	0.001				p.V208I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	19						.	G	ILE/VAL	0,4406		0,0,2203	136.0	127.0	130.0		622	1.1	0.0	19	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR7D2	NM_175883.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	208/313	9297079	2,13004	2203	4300	6503	9158079	SO:0001583	missense	162998	exon1			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.622G>A	19.37:g.9297079G>A	ENSP00000345563:p.Val208Ile		9158079	NM_175883	Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	CCDS32900.1	13	0.005952380952380952	0	0.0	0	0.0	13	0.022727272727272728	0	0.0	G	2.104	-0.405443	0.04832	0.0	2.33E-4	ENSG00000188000	ENST00000344248	T	0.37411	1.2	2.2	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.227461	0.22128	U	0.064236	T	0.11750	0.0286	N	0.11698	0.16	0.09310	N	1	D	0.59767	0.986	P	0.57057	0.812	T	0.17198	-1.0377	10	0.05959	T	0.93	.	4.0199	0.09660	0.137:0.0:0.6258:0.2372	.	208	Q96RA2	OR7D2_HUMAN	I	208	ENSP00000345563:V208I	ENSP00000345563:V208I	V	+	1	0	OR7D2	9158079	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.894000	0.04123	0.486000	0.27676	0.505000	0.49811	GTT		0.463	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1		
OR7D4	125958	broad.mit.edu	37	19	9325110	9325110	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9325110A>G	ENST00000308682.2	-	1	432	c.404T>C	c.(403-405)aTc>aCc	p.I135T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I135T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGGGTTCATGATGACCGTGTA	0.483																																					p.I135T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T404C	19						.						83.0	80.0	81.0					19																	9325110		2203	4300	6503	9186110	SO:0001583	missense	125958	exon1				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.404T>C	19.37:g.9325110A>G	ENSP00000310488:p.Ile135Thr		9186110	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389030	0.61956	.	.	ENSG00000174667	ENST00000308682	T	0.21191	2.02	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.206543	0.34435	N	0.003970	T	0.41003	0.1140	M	0.78223	2.4	0.40029	D	0.975509	D	0.62365	0.991	P	0.58620	0.842	T	0.46735	-0.9170	10	0.66056	D	0.02	.	12.1734	0.54172	1.0:0.0:0.0:0.0	.	135	Q8NG98	OR7D4_HUMAN	T	135	ENSP00000310488:I135T	ENSP00000310488:I135T	I	-	2	0	OR7D4	9186110	0.957000	0.32711	0.999000	0.59377	0.543000	0.35085	2.878000	0.48515	1.831000	0.53308	0.358000	0.22013	ATC		0.483	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		
OR7E24	26648	broad.mit.edu	37	19	9362412	9362412	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9362412G>T	ENST00000456448.1	+	1	807	c.693G>T	c.(691-693)ggG>ggT	p.G231G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G231G(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTATCTCAGGGATCCTTTTCT	0.453																																					p.G231G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G693T	19						.						34.0	35.0	35.0					19																	9362412		1902	4140	6042	9223412	SO:0001819	synonymous_variant	26648	exon1			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.693G>T	19.37:g.9362412G>T			9223412	NM_001079935	B9EJD9|Q9UPJ1	Silent	SNP	ENST00000456448.1	37	CCDS45955.1																																																																																				0.453	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1		
ZNF699	374879	broad.mit.edu	37	19	9413107	9413107	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9413107C>A	ENST00000591998.1	-	3	350	c.122G>T	c.(121-123)aGa>aTa	p.R41I	ZNF699_ENST00000588336.1_5'Flank|ZNF699_ENST00000308650.3_Missense_Mutation_p.R41I			Q32M78	ZN699_HUMAN	zinc finger protein 699	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R41I(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGAGGTTTCTCTGAGCAAG	0.423																																					p.R41I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G122T	19						.						112.0	114.0	113.0					19																	9413107		2203	4300	6503	9274107	SO:0001583	missense	374879	exon2			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.122G>T	19.37:g.9413107C>A	ENSP00000467723:p.Arg41Ile		9274107	NM_198535	Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917214	0.52546	.	.	ENSG00000196110	ENST00000308650	T	0.03035	4.07	3.62	0.199	0.15175	Krueppel-associated box (4);	.	.	.	.	T	0.11239	0.0274	H	0.95504	3.68	0.26831	N	0.968588	P	0.38617	0.64	B	0.42214	0.38	T	0.11743	-1.0575	9	0.87932	D	0	.	3.1479	0.06478	0.2092:0.5589:0.0:0.2319	.	41	Q32M78	ZN699_HUMAN	I	41	ENSP00000311596:R41I	ENSP00000311596:R41I	R	-	2	0	ZNF699	9274107	0.002000	0.14202	0.264000	0.24511	0.904000	0.53231	-0.348000	0.07740	0.143000	0.18926	0.549000	0.68633	AGA		0.423	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535	
ZNF177	7730	broad.mit.edu	37	19	9492371	9492371	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9492371T>G	ENST00000589262.1	+	6	1430	c.1364T>G	c.(1363-1365)aTt>aGt	p.I455S	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.I295S|ZNF177_ENST00000343499.4_Missense_Mutation_p.I295S|ZNF177_ENST00000434737.2_Missense_Mutation_p.I455S|ZNF177_ENST00000602738.1_Missense_Mutation_p.I295S|ZNF177_ENST00000602856.1_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	455			I -> F (in dbSNP:rs2230752). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8661005}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I295S(1)|p.I455S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TATAAATGTATTCAGTGTGAA	0.423																																					p.I455S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1364G	19						.						141.0	149.0	147.0					19																	9492371		2203	4300	6503	9353371	SO:0001583	missense	7730	exon6			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1364T>G	19.37:g.9492371T>G	ENSP00000468531:p.Ile455Ser		9353371	NM_001172651	B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	T	4.909	0.168980	0.09339	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.07114	3.22;3.22;3.22	2.49	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.00413	-1.525	0.26531	N	0.974258	B	0.06786	0.001	B	0.06405	0.002	T	0.44787	-0.9305	8	0.26408	T	0.33	.	4.5891	0.12297	0.2676:0.4813:0.0:0.2511	.	295	Q13360	ZN177_HUMAN	S	295;295;455	ENSP00000445323:I295S;ENSP00000341497:I295S;ENSP00000415070:I455S	ENSP00000341497:I295S	I	+	2	0	ZNF177	9353371	0.000000	0.05858	0.004000	0.12327	0.994000	0.84299	-5.376000	0.00127	-1.161000	0.02800	0.460000	0.39030	ATT		0.423	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451	
ZNF266	10781	broad.mit.edu	37	19	9523994	9523994	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9523994C>T	ENST00000592904.1	-	5	3683	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	ZNF266_ENST00000588221.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.R536Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R536Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R536Q			Q14584	ZN266_HUMAN	zinc finger protein 266	536					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.R536Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCATGATTTCGAAAGGAACT	0.438																																					p.R536Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1607A	19						.						86.0	81.0	83.0					19																	9523994		2203	4300	6503	9384994	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1607G>A	19.37:g.9523994C>T	ENSP00000466714:p.Arg536Gln		9384994	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244590	0.22796	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.35789	1.29;1.29	2.21	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14830	0.0358	N	0.11892	0.195	0.09310	N	1	B	0.19200	0.034	B	0.04013	0.001	T	0.11542	-1.0583	9	0.41790	T	0.15	.	1.5931	0.02658	0.1365:0.1502:0.2719:0.4414	.	536	Q14584	ZN266_HUMAN	Q	536	ENSP00000354680:R536Q;ENSP00000355047:R536Q	ENSP00000355047:R536Q	R	-	2	0	ZNF266	9384994	0.000000	0.05858	0.000000	0.03702	0.409000	0.31022	-0.584000	0.05800	-1.965000	0.01010	0.455000	0.32223	CGA		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF266	10781	broad.mit.edu	37	19	9524066	9524066	+	Missense_Mutation	SNP	C	C	T	rs146314378		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9524066C>T	ENST00000592904.1	-	5	3611	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	ZNF266_ENST00000588221.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.R512Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.R512Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.R512Q			Q14584	ZN266_HUMAN	zinc finger protein 266	512					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.R512Q(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGTGTGAGTTCGTTCATGTAA	0.438																																					p.R512Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1535A	19						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	98.0	77.0	84.0		1535,1535	-1.2	0.0	19	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ZNF266	NM_006631.2,NM_198058.1	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	512/550,512/550	9524066	2,13004	2203	4300	6503	9385066	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1535G>A	19.37:g.9524066C>T	ENSP00000466714:p.Arg512Gln		9385066	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983888	0.74474	0.0	2.33E-4	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.24723	1.84;1.84	2.4	-1.18	0.09617	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45276	0.1334	M	0.77486	2.375	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.29640	-1.0005	9	0.72032	D	0.01	.	7.6122	0.28137	0.0:0.7087:0.0:0.2913	.	512	Q14584	ZN266_HUMAN	Q	512	ENSP00000354680:R512Q;ENSP00000355047:R512Q	ENSP00000355047:R512Q	R	-	2	0	ZNF266	9385066	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	0.055000	0.14229	-0.155000	0.11098	0.455000	0.32223	CGA		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF266	10781	broad.mit.edu	37	19	9524612	9524612	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9524612C>T	ENST00000592904.1	-	5	3065	c.989G>A	c.(988-990)gGa>gAa	p.G330E	ZNF266_ENST00000588221.1_Missense_Mutation_p.G330E|ZNF266_ENST00000592292.1_Missense_Mutation_p.G330E|ZNF266_ENST00000361151.1_Missense_Mutation_p.G330E|ZNF266_ENST00000588933.1_Missense_Mutation_p.G330E|ZNF266_ENST00000361451.2_Missense_Mutation_p.G330E|ZNF266_ENST00000590306.1_Missense_Mutation_p.G330E			Q14584	ZN266_HUMAN	zinc finger protein 266	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G330E(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AAAGGATTTTCCACATATCTT	0.383																																					p.G330E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	19						.						87.0	88.0	87.0					19																	9524612		2203	4300	6503	9385612	SO:0001583	missense	10781	exon11			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.989G>A	19.37:g.9524612C>T	ENSP00000466714:p.Gly330Glu		9385612	NM_006631	A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833669	0.71258	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.58210	0.35;0.35	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59088	0.2168	L	0.45698	1.435	0.27814	N	0.94203	D	0.65815	0.995	P	0.57776	0.827	T	0.51505	-0.8697	9	0.59425	D	0.04	.	11.1769	0.48606	0.0:1.0:0.0:0.0	.	330	Q14584	ZN266_HUMAN	E	330	ENSP00000354680:G330E;ENSP00000355047:G330E	ENSP00000355047:G330E	G	-	2	0	ZNF266	9385612	0.004000	0.15560	0.321000	0.25320	0.630000	0.37929	0.376000	0.20535	1.727000	0.51537	0.555000	0.69702	GGA		0.383	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1		
ZNF560	147741	broad.mit.edu	37	19	9577447	9577447	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9577447C>A	ENST00000301480.4	-	10	2389	c.2176G>T	c.(2176-2178)Gat>Tat	p.D726Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	726					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.D726Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTAGTAAGATCTGAATGACAA	0.398																																					p.D726Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2176T	19						.						123.0	114.0	117.0					19																	9577447		2203	4300	6503	9438447	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2176G>T	19.37:g.9577447C>A	ENSP00000301480:p.Asp726Tyr		9438447	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	1.394	-0.579934	0.03854	.	.	ENSG00000198028	ENST00000301480	T	0.19394	2.15	2.02	-4.03	0.04021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	L	0.31157	0.91	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.39542	-0.9609	9	0.12103	T	0.63	.	0.7177	0.00935	0.2904:0.2584:0.2875:0.1637	.	726	Q96MR9	ZN560_HUMAN	Y	726	ENSP00000301480:D726Y	ENSP00000301480:D726Y	D	-	1	0	ZNF560	9438447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.847000	0.00095	-2.094000	0.00854	-0.379000	0.06801	GAT		0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF560	147741	broad.mit.edu	37	19	9577834	9577834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9577834C>A	ENST00000301480.4	-	10	2002	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	597					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.E597*(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TATGGCTTCTCTCCACTGTGT	0.413																																					p.E597X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1789T	19						.						155.0	135.0	141.0					19																	9577834		2203	4300	6503	9438834	SO:0001587	stop_gained	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1789G>T	19.37:g.9577834C>A	ENSP00000301480:p.Glu597*		9438834	NM_152476	Q495S9|Q495T1	Nonsense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	38	6.878422	0.97904	.	.	ENSG00000198028	ENST00000301480	.	.	.	2.05	-0.156	0.13391	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.0644	0.19856	0.0:0.698:0.0:0.3019	.	.	.	.	X	597	.	ENSP00000301480:E597X	E	-	1	0	ZNF560	9438834	0.409000	0.25368	0.002000	0.10522	0.761000	0.43186	1.640000	0.37186	0.017000	0.15025	-0.424000	0.05967	GAG		0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF426	79088	broad.mit.edu	37	19	9639964	9639964	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9639964C>T	ENST00000535489.1	-	6	1093	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ZNF426_ENST00000593003.1_Missense_Mutation_p.E215K|ZNF426_ENST00000253115.2_Missense_Mutation_p.E253K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	253					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.E253K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTCCTCCATTCGTAGAGTTTT	0.383																																					p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	19						.						159.0	159.0	159.0					19																	9639964		2203	4300	6503	9500964	SO:0001583	missense	79088	exon8			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.757G>A	19.37:g.9639964C>T	ENSP00000439017:p.Glu253Lys		9500964	NM_024106	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	4.585	0.108709	0.08780	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.05513	3.43;3.43	1.42	-2.25	0.06888	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	B;B	0.20550	0.046;0.046	B;B	0.13407	0.009;0.009	T	0.46721	-0.9171	9	0.18710	T	0.47	.	2.788	0.05379	0.2194:0.271:0.0:0.5095	.	240;253	Q59EH4;Q9BUY5	.;ZN426_HUMAN	K	240;253;253	ENSP00000253115:E253K;ENSP00000439017:E253K	ENSP00000253115:E253K	E	-	1	0	ZNF426	9500964	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.992000	0.03724	-0.686000	0.05170	0.313000	0.20887	GAA		0.383	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
ZNF561	93134	broad.mit.edu	37	19	9721101	9721101	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9721101C>A	ENST00000302851.3	-	6	1599	c.1236G>T	c.(1234-1236)ttG>ttT	p.L412F	ZNF561_ENST00000424629.1_Missense_Mutation_p.L343F|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.L276F|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	412					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.L343F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TATGAGTTTTCAAATGTTTAC	0.408																																					p.L412F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1236T	19						.						133.0	129.0	130.0					19																	9721101		2203	4300	6503	9582101	SO:0001583	missense	93134	exon6			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1236G>T	19.37:g.9721101C>A	ENSP00000303915:p.Leu412Phe		9582101	NM_152289	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	6.737	0.504763	0.12822	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.36340	1.26;1.26;1.26	1.1	-1.49	0.08718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43299	0.1241	L	0.41632	1.29	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.31586	-0.9938	9	0.87932	D	0	.	5.0507	0.14507	0.0:0.382:0.0:0.618	.	412	Q8N587	ZN561_HUMAN	F	343;412;276	ENSP00000393074:L343F;ENSP00000303915:L412F;ENSP00000346687:L276F	ENSP00000303915:L412F	L	-	3	2	ZNF561	9582101	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-1.462000	0.02364	-0.428000	0.07339	0.298000	0.19748	TTG		0.408	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289	
ZNF561	93134	broad.mit.edu	37	19	9721569	9721569	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9721569C>A	ENST00000302851.3	-	6	1131	c.768G>T	c.(766-768)aaG>aaT	p.K256N	ZNF561_ENST00000424629.1_Missense_Mutation_p.K187N|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.K120N|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	256					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.K187N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TCCCACATTTCTTAGTCTTTT	0.378																																					p.K256N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G768T	19						.						74.0	75.0	75.0					19																	9721569		2202	4300	6502	9582569	SO:0001583	missense	93134	exon6			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.768G>T	19.37:g.9721569C>A	ENSP00000303915:p.Lys256Asn		9582569	NM_152289	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240245	0.22711	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661;ENST00000444611	T;T;T;T	0.14893	3.03;3.15;3.07;2.47	1.42	-2.84	0.05751	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	N	0.12182	0.205	0.09310	N	1	P	0.34522	0.455	B	0.30105	0.111	T	0.36553	-0.9743	9	0.09590	T	0.72	.	4.4094	0.11425	0.3767:0.2514:0.3719:0.0	.	256	Q8N587	ZN561_HUMAN	N	187;256;120;262	ENSP00000393074:K187N;ENSP00000303915:K256N;ENSP00000346687:K120N;ENSP00000392013:K262N	ENSP00000303915:K256N	K	-	3	2	ZNF561	9582569	0.000000	0.05858	0.000000	0.03702	0.730000	0.41778	-5.944000	0.00089	-1.146000	0.02854	0.298000	0.19748	AAG		0.378	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289	
ZNF562	54811	broad.mit.edu	37	19	9764066	9764066	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9764066T>G	ENST00000448622.1	-	6	1002	c.840A>C	c.(838-840)aaA>aaC	p.K280N	ZNF562_ENST00000453792.2_Missense_Mutation_p.K211N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K208N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K243N|ZNF562_ENST00000453372.2_Missense_Mutation_p.K280N|ZNF562_ENST00000537617.1_Missense_Mutation_p.K164N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K279N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	280					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.K208N(1)|p.K280N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTATGAGTTTTTGCATGTG	0.348																																					p.K280N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A840C	19						.						83.0	83.0	83.0					19																	9764066		2203	4300	6503	9625066	SO:0001583	missense	54811	exon6			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.840A>C	19.37:g.9764066T>G	ENSP00000411784:p.Lys280Asn		9625066	NM_001130032	Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.895110	0.33442	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	1.76	0.673	0.17941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39172	0.1068	L	0.52126	1.63	0.09310	N	1	D;D;D;D;D	0.76494	0.989;0.991;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.985;0.987;0.996;0.995;0.991	T	0.14144	-1.0483	9	0.87932	D	0	.	6.0421	0.19740	0.0:0.0:0.2932:0.7068	.	164;279;243;280;208	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	N	280;280;208;243;211;164	ENSP00000410734:K280N;ENSP00000411784:K280N;ENSP00000293648:K208N;ENSP00000442614:K243N;ENSP00000440451:K211N;ENSP00000445816:K164N	ENSP00000293648:K208N	K	-	3	2	ZNF562	9625066	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-1.468000	0.02350	0.142000	0.18901	0.260000	0.18958	AAA		0.348	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656	
ZNF846	162993	broad.mit.edu	37	19	9868260	9868260	+	Missense_Mutation	SNP	C	C	T	rs563965653		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9868260C>T	ENST00000397902.2	-	6	1906	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R498Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGTGTGAGTTCGTGTGTGAAC	0.403													N|||	1	0.000199681	0.0	0.0	5008	,	,		22005	0.0		0.001	False		,,,				2504	0.0				p.R498Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1493A	19						.						125.0	134.0	131.0					19																	9868260		2139	4282	6421	9729260	SO:0001583	missense	162993	exon6			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1493G>A	19.37:g.9868260C>T	ENSP00000380999:p.Arg498Gln		9729260	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	16.34	3.096601	0.56075	.	.	ENSG00000196605	ENST00000397902	T	0.24723	1.84	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42698	0.1214	M	0.67953	2.075	0.20563	N	0.999885	D	0.76494	0.999	P	0.62382	0.901	T	0.13335	-1.0513	9	0.72032	D	0.01	.	9.5782	0.39470	0.0:1.0:0.0:0.0	.	498	Q147U1	ZN846_HUMAN	Q	498	ENSP00000380999:R498Q	ENSP00000380999:R498Q	R	-	2	0	ZNF846	9729260	0.000000	0.05858	0.495000	0.27527	0.129000	0.20672	-0.091000	0.11146	1.304000	0.44892	0.456000	0.33151	CGA		0.403	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
ZNF846	162993	broad.mit.edu	37	19	9873997	9873997	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9873997C>A	ENST00000397902.2	-	3	516	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Missense_Mutation_p.D35Y|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D35Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AACATCACATCTCTGTAGAGA	0.403																																					p.D35Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103T	19						.						124.0	130.0	128.0					19																	9873997		2203	4300	6503	9734997	SO:0001583	missense	162993	exon3			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.103G>T	19.37:g.9873997C>A	ENSP00000380999:p.Asp35Tyr		9734997	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434576	0.43224	.	.	ENSG00000196605	ENST00000397902	T	0.02863	4.13	2.17	-0.00709	0.14011	Krueppel-associated box (4);	.	.	.	.	T	0.16214	0.0390	H	0.95539	3.685	0.24250	N	0.995322	D	0.63880	0.993	D	0.64687	0.928	T	0.04825	-1.0924	8	.	.	.	.	4.3646	0.11218	0.0:0.6473:0.0:0.3527	.	35	Q147U1	ZN846_HUMAN	Y	35	ENSP00000380999:D35Y	.	D	-	1	0	ZNF846	9734997	0.819000	0.29175	0.998000	0.56505	0.982000	0.71751	0.563000	0.23547	0.068000	0.16574	-0.351000	0.07748	GAT		0.403	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
FBXL12	54850	broad.mit.edu	37	19	9922118	9922118	+	Missense_Mutation	SNP	C	C	A	rs375572016		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9922118C>A	ENST00000247977.4	-	3	676	c.435G>T	c.(433-435)caG>caT	p.Q145H	FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.Q92H|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.Q92H	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	145					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)		p.Q145H(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTGGGGTCCTGCTGCTTGT	0.672																																					p.Q145H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	19						.						52.0	55.0	54.0					19																	9922118		2203	4300	6503	9783118	SO:0001583	missense	54850	exon3			AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.435G>T	19.37:g.9922118C>A	ENSP00000247977:p.Gln145His		9783118	NM_017703	B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609175	0.28623	.	.	ENSG00000127452	ENST00000247977	T	0.16897	2.31	4.76	2.47	0.30058	.	1.484910	0.03700	N	0.248388	T	0.09598	0.0236	N	0.08118	0	0.20307	N	0.999911	D	0.53462	0.96	B	0.40565	0.333	T	0.18209	-1.0344	9	.	.	.	-16.2639	6.7652	0.23562	0.206:0.596:0.198:0.0	.	145	Q9NXK8	FXL12_HUMAN	H	145	ENSP00000247977:Q145H	.	Q	-	3	2	FBXL12	9783118	0.883000	0.30277	0.854000	0.33618	0.869000	0.49853	0.450000	0.21762	1.214000	0.43395	0.655000	0.94253	CAG		0.672	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703	
OLFM2	93145	broad.mit.edu	37	19	9965083	9965083	+	Missense_Mutation	SNP	C	C	T	rs148943256		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:9965083C>T	ENST00000264833.4	-	6	1329	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	AC008752.3_ENST00000582439.1_RNA|OLFM2_ENST00000590841.1_Missense_Mutation_p.V304M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	382	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.V382M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GAGTTGGTCACGTAGAGCACA	0.612																																					p.V382M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144A	19						.	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	118.0	103.0	108.0		1144	4.4	1.0	19	dbSNP_134	108	0,8600		0,0,4300	no	missense	OLFM2	NM_058164.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	382/455	9965083	1,13005	2203	4300	6503	9826083	SO:0001583	missense	93145	exon6			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1144G>A	19.37:g.9965083C>T	ENSP00000264833:p.Val382Met		9826083	NM_058164	Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502266	0.64298	2.27E-4	0.0	ENSG00000105088	ENST00000264833	D	0.90900	-2.75	4.36	4.36	0.52297	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95614	0.8574	M	0.88640	2.97	0.54753	D	0.999988	D	0.89917	1.0	D	0.80764	0.994	D	0.96024	0.9011	9	.	.	.	.	14.4229	0.67196	0.0:1.0:0.0:0.0	.	382	O95897	NOE2_HUMAN	M	382	ENSP00000264833:V382M	.	V	-	1	0	OLFM2	9826083	1.000000	0.71417	0.994000	0.49952	0.782000	0.44232	4.660000	0.61511	2.239000	0.73571	0.561000	0.74099	GTG		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1		
COL5A3	50509	broad.mit.edu	37	19	10071203	10071203	+	Missense_Mutation	SNP	C	C	T	rs563109290		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10071203C>T	ENST00000264828.3	-	67	5207	c.5122G>A	c.(5122-5124)Gaa>Aaa	p.E1708K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1708	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.E1708K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAGCTGAATTCGAAAAGGGTC	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0				p.E1708K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5122A	19						.						93.0	102.0	99.0					19																	10071203		2203	4300	6503	9932203	SO:0001583	missense	50509	exon67			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5122G>A	19.37:g.10071203C>T	ENSP00000264828:p.Glu1708Lys		9932203	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622486	0.28889	.	.	ENSG00000080573	ENST00000264828	T	0.76316	-1.01	4.03	1.79	0.24919	Fibrillar collagen, C-terminal (4);	0.175070	0.38164	U	0.001800	D	0.82296	0.5006	M	0.92169	3.28	0.34133	D	0.66547	P	0.44429	0.835	B	0.43194	0.411	D	0.87058	0.2151	10	0.56958	D	0.05	.	11.6369	0.51209	0.0:0.655:0.345:0.0	.	1708	P25940	CO5A3_HUMAN	K	1708	ENSP00000264828:E1708K	ENSP00000264828:E1708K	E	-	1	0	COL5A3	9932203	0.977000	0.34250	0.116000	0.21606	0.174000	0.22865	2.489000	0.45285	0.336000	0.23639	0.462000	0.41574	GAA		0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
COL5A3	50509	broad.mit.edu	37	19	10081910	10081910	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10081910G>T	ENST00000264828.3	-	52	3884	c.3799C>A	c.(3799-3801)Cta>Ata	p.L1267I		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1267	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.L1267I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGGCCCTAGATCTCCGGGC	0.522																																					p.L1267I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3799A	19						.						18.0	22.0	21.0					19																	10081910		2203	4299	6502	9942910	SO:0001583	missense	50509	exon52			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3799C>A	19.37:g.10081910G>T	ENSP00000264828:p.Leu1267Ile		9942910	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136797	0.37728	.	.	ENSG00000080573	ENST00000264828	D	0.93547	-3.24	4.62	4.62	0.57501	.	0.574192	0.15856	N	0.241260	D	0.84106	0.5399	N	0.05124	-0.11	0.09310	N	1	P	0.35077	0.483	B	0.27887	0.084	T	0.77864	-0.2429	10	0.46703	T	0.11	.	15.0029	0.71489	0.0:0.0:1.0:0.0	.	1267	P25940	CO5A3_HUMAN	I	1267	ENSP00000264828:L1267I	ENSP00000264828:L1267I	L	-	1	2	COL5A3	9942910	1.000000	0.71417	0.360000	0.25837	0.915000	0.54546	3.791000	0.55469	2.389000	0.81357	0.462000	0.41574	CTA		0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
COL5A3	50509	broad.mit.edu	37	19	10085048	10085048	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10085048C>A	ENST00000264828.3	-	46	3464	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1127	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1127C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCAAAGAGGCCTGGGGGTCCC	0.612																																					p.G1127C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3379T	19						.						45.0	49.0	48.0					19																	10085048		2203	4300	6503	9946048	SO:0001583	missense	50509	exon46			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3379G>T	19.37:g.10085048C>A	ENSP00000264828:p.Gly1127Cys		9946048	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442540	0.83993	.	.	ENSG00000080573	ENST00000264828	D	0.99637	-6.29	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	D	0.99806	0.9916	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96693	0.9512	10	0.87932	D	0	.	15.5331	0.75980	0.0:1.0:0.0:0.0	.	1127	P25940	CO5A3_HUMAN	C	1127	ENSP00000264828:G1127C	ENSP00000264828:G1127C	G	-	1	0	COL5A3	9946048	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.605000	0.74155	2.246000	0.74042	0.313000	0.20887	GGC		0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
COL5A3	50509	broad.mit.edu	37	19	10112446	10112446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10112446C>A	ENST00000264828.3	-	7	1046	c.961G>T	c.(961-963)Gag>Tag	p.E321*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	321	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.E321*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CATCCAACCTCTAGGATCGTG	0.547											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E321X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G961T	19						.						119.0	112.0	115.0					19																	10112446		2203	4300	6503	9973446	SO:0001587	stop_gained	50509	exon7			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.961G>T	19.37:g.10112446C>A	ENSP00000264828:p.Glu321*	662	9973446	NM_015719	Q9NZQ6	Nonsense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	37	6.456209	0.97581	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.95	1.05	0.20165	.	1.489540	0.06765	U	0.782498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.4713	0.22009	0.0:0.3913:0.4965:0.1122	.	.	.	.	X	321	.	ENSP00000264828:E321X	E	-	1	0	COL5A3	9973446	0.369000	0.25039	0.442000	0.26870	0.494000	0.33585	0.471000	0.22100	0.537000	0.28751	0.462000	0.41574	GAG		0.547	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
COL5A3	50509	broad.mit.edu	37	19	10114298	10114298	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10114298C>A	ENST00000264828.3	-	6	877	c.792G>T	c.(790-792)agG>agT	p.R264S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	264	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R264S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGTTCTTTTTCCTGCCCTTCC	0.577											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R264S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G792T	19						.						270.0	200.0	223.0					19																	10114298		2203	4300	6503	9975298	SO:0001583	missense	50509	exon6			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.792G>T	19.37:g.10114298C>A	ENSP00000264828:p.Arg264Ser	662	9975298	NM_015719	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.611	0.674800	0.14841	.	.	ENSG00000080573	ENST00000264828	D	0.89939	-2.59	4.08	1.84	0.25277	.	1.742540	0.02981	U	0.145682	T	0.80248	0.4588	L	0.40543	1.245	0.27961	N	0.936766	P	0.37781	0.608	B	0.27500	0.08	T	0.67530	-0.5647	10	0.09590	T	0.72	.	5.2922	0.15733	0.0:0.7009:0.0:0.2991	.	264	P25940	CO5A3_HUMAN	S	264	ENSP00000264828:R264S	ENSP00000264828:R264S	R	-	3	2	COL5A3	9975298	0.998000	0.40836	1.000000	0.80357	0.725000	0.41563	0.194000	0.17135	0.402000	0.25451	0.456000	0.33151	AGG		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
RDH8	50700	broad.mit.edu	37	19	10127844	10127844	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:10127844C>T	ENST00000171214.1	+	2	464	c.215C>T	c.(214-216)tCg>tTg	p.S72L	RDH8_ENST00000591589.1_Missense_Mutation_p.S92L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	72					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.S72L(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGTGATGAGTCGGTGGCCCAG	0.602																																					p.S72L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	19						.						81.0	70.0	74.0					19																	10127844		2203	4300	6503	9988844	SO:0001583	missense	50700	exon2			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.215C>T	19.37:g.10127844C>T	ENSP00000171214:p.Ser72Leu		9988844	NM_015725	Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861661	0.91433	.	.	ENSG00000080511	ENST00000171214	D	0.94417	-3.42	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98419	1.0576	10	0.87932	D	0	.	15.3068	0.73998	0.0:1.0:0.0:0.0	.	72	Q9NYR8	RDH8_HUMAN	L	72	ENSP00000171214:S72L	ENSP00000171214:S72L	S	+	2	0	RDH8	9988844	1.000000	0.71417	0.922000	0.36590	0.878000	0.50629	7.304000	0.78882	2.190000	0.69967	0.655000	0.94253	TCG		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
CHMP2A	27243	broad.mit.edu	37	19	59065428	59065428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:59065428G>A	ENST00000600118.1	-	1	577	c.152C>T	c.(151-153)gCc>gTc	p.A51V	CHMP2A_ENST00000601220.1_Missense_Mutation_p.A51V|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A51V			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	51					endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.A51V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCCTTGCTTGGCCATCTTCTT	0.547																																					p.A51V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C152T	19						.						198.0	167.0	178.0					19																	59065428		2203	4300	6503	63757240	SO:0001583	missense	27243	exon2			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.152C>T	19.37:g.59065428G>A	ENSP00000469240:p.Ala51Val		63757240	NM_198426	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	36	5.748044	0.96882	.	.	ENSG00000130724	ENST00000312547	T	0.74002	-0.8	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.89030	0.6599	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91262	0.5037	10	0.87932	D	0	.	16.618	0.84922	0.0:0.0:1.0:0.0	.	51	O43633	CHM2A_HUMAN	V	51	ENSP00000310440:A51V	ENSP00000310440:A51V	A	-	2	0	CHMP2A	63757240	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.788000	0.91834	2.601000	0.87937	0.655000	0.94253	GCC		0.547	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453	
SLC7A13	157724	broad.mit.edu	37	8	87242488	87242488	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87242488delT	ENST00000297524.3	-	1	122	c.19delA	c.(19-21)atafs	p.I7fs	SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.I7fs|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	7						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.I7fs*38(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTGAGCTGTATTTTCTCCCCT	0.368																																					p.I7fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.19delA	8						.						47.0	48.0	47.0					8																	87242488		2202	4298	6500	87311604	SO:0001589	frameshift_variant	157724	exon1			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.19delA	8.37:g.87242488delT	ENSP00000297524:p.Ile7fs		87311604	NM_138817	Q05C37|Q08AH9|Q96N84	Frame_Shift_Del	DEL	ENST00000297524.3	37	CCDS34917.1																																																																																				0.368	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
VPS13B	157680	broad.mit.edu	37	8	100026025	100026025	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100026025G>T	ENST00000358544.2	+	2	120	c.9G>T	c.(7-9)gaG>gaT	p.E3D	VPS13B_ENST00000355155.1_Missense_Mutation_p.E3D|VPS13B_ENST00000395996.1_Missense_Mutation_p.E3D|RP11-410L14.2_ENST00000521696.1_lincRNA|VPS13B_ENST00000441350.2_Missense_Mutation_p.E3D|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3D	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3					protein transport (GO:0015031)			p.E3D(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGATGCTGGAGTCATATGTAA	0.443																																					p.E3D	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9T	8						.						112.0	106.0	108.0					8																	100026025		2203	4300	6503	100095201	SO:0001583	missense	157680	exon2			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9G>T	8.37:g.100026025G>T	ENSP00000351346:p.Glu3Asp		100095201	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206875	0.95033	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	4.85	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.91590	0.7343	M	0.78801	2.425	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;0.996	D;D;D;D;D	0.85130	0.987;0.994;0.997;0.997;0.97	D	0.92425	0.5949	10	0.87932	D	0	.	13.347	0.60580	0.076:0.0:0.924:0.0	.	3;3;3;3;3	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	D	3	ENSP00000347281:E3D;ENSP00000349685:E3D;ENSP00000351346:E3D;ENSP00000379318:E3D;ENSP00000398472:E3D	ENSP00000347281:E3D	E	+	3	2	VPS13B	100095201	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.371000	0.73119	1.258000	0.44101	0.557000	0.71058	GAG		0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100123355	100123355	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100123355A>C	ENST00000358544.2	+	6	721	c.610A>C	c.(610-612)Aat>Cat	p.N204H	VPS13B_ENST00000355155.1_Missense_Mutation_p.N204H|VPS13B_ENST00000395996.1_Missense_Mutation_p.N204H|VPS13B_ENST00000441350.2_Missense_Mutation_p.N204H|VPS13B_ENST00000357162.2_Missense_Mutation_p.N204H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	204					protein transport (GO:0015031)			p.N204H(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGGTTATCAATTTTTCTGA	0.313																																					p.N204H	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A610C	8						.						69.0	73.0	71.0					8																	100123355		2202	4299	6501	100192531	SO:0001583	missense	157680	exon6			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.610A>C	8.37:g.100123355A>C	ENSP00000351346:p.Asn204His		100192531	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536977	0.65085	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.49;-0.49;-0.18;-1.73	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	L	0.43152	1.355	0.58432	D	0.999992	D;D;D;D;P	0.89917	1.0;0.999;0.998;0.998;0.728	D;D;D;D;B	0.85130	0.997;0.997;0.935;0.929;0.39	D	0.88407	0.3019	10	0.54805	T	0.06	.	15.2793	0.73770	1.0:0.0:0.0:0.0	.	204;204;204;204;204	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	H	204	ENSP00000347281:N204H;ENSP00000349685:N204H;ENSP00000351346:N204H;ENSP00000379318:N204H;ENSP00000398472:N204H	ENSP00000347281:N204H	N	+	1	0	VPS13B	100192531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.075000	0.94004	2.005000	0.58758	0.454000	0.30748	AAT		0.313	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100160233	100160233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100160233G>T	ENST00000358544.2	+	14	2119	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	VPS13B_ENST00000355155.1_Nonsense_Mutation_p.E670*|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.E670*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.E670*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	670					protein transport (GO:0015031)			p.E670*(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CATTATGGGAGAAAAGGTATA	0.353																																					p.E670X	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2008T	8						.						141.0	141.0	141.0					8																	100160233		2203	4300	6503	100229409	SO:0001587	stop_gained	157680	exon14			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2008G>T	8.37:g.100160233G>T	ENSP00000351346:p.Glu670*		100229409	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.399398	0.97537	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	.	.	.	5.14	5.14	0.70334	.	0.259163	0.32785	N	0.005660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.0166	0.64527	0.0:0.2774:0.7226:0.0	.	.	.	.	X	670	.	ENSP00000347281:E670X	E	+	1	0	VPS13B	100229409	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.322000	0.33689	2.540000	0.85666	0.563000	0.77884	GAA		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100168971	100168971	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100168971G>A	ENST00000358544.2	+	15	2319	c.2208G>A	c.(2206-2208)aaG>aaA	p.K736K	VPS13B_ENST00000355155.1_Splice_Site_p.K736K|VPS13B_ENST00000395996.1_Splice_Site_p.K736K|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Splice_Site_p.K736K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	736					protein transport (GO:0015031)			p.K736K(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTATCTTAAGGTATGAAAAG	0.368																																					p.K736K	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2208A	8						.						133.0	121.0	125.0					8																	100168971		2203	4300	6503	100238147	SO:0001630	splice_region_variant	157680	exon15			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2208+1G>A	8.37:g.100168971G>A			100238147	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.368	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Silent
VPS13B	157680	broad.mit.edu	37	8	100286541	100286541	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100286541A>C	ENST00000358544.2	+	18	2742	c.2631A>C	c.(2629-2631)aaA>aaC	p.K877N	VPS13B_ENST00000395996.1_Missense_Mutation_p.K877N|VPS13B_ENST00000357162.2_Missense_Mutation_p.K877N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	877					protein transport (GO:0015031)			p.K877N(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCAATAAAAATTTGTGCCA	0.453																																					p.K877N	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2631C	8						.						90.0	95.0	93.0					8																	100286541		2203	4300	6503	100355717	SO:0001583	missense	157680	exon18			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2631A>C	8.37:g.100286541A>C	ENSP00000351346:p.Lys877Asn		100355717	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133562	0.77662	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.72942	-0.69;-0.7;-0.4	5.65	5.65	0.86999	.	0.067188	0.64402	D	0.000009	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.994;0.997	T	0.80284	-0.1447	10	0.72032	D	0.01	.	16.1642	0.81743	1.0:0.0:0.0:0.0	.	877;877;877;877	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	N	877	ENSP00000349685:K877N;ENSP00000351346:K877N;ENSP00000379318:K877N	ENSP00000349685:K877N	K	+	3	2	VPS13B	100355717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.880000	0.92407	2.280000	0.76307	0.460000	0.39030	AAA		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100712137	100712137	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100712137T>G	ENST00000358544.2	+	36	6617	c.6506T>G	c.(6505-6507)gTc>gGc	p.V2169G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2144G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2169					protein transport (GO:0015031)			p.V2169G(1)|p.V2144G(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCCTTAGTGTCAAGGCAACA	0.423																																					p.V2144G	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6431G	8						.						52.0	44.0	47.0					8																	100712137		2203	4298	6501	100781313	SO:0001583	missense	157680	exon36			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6506T>G	8.37:g.100712137T>G	ENSP00000351346:p.Val2169Gly		100781313	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.774418	0.70107	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70631	-0.49;-0.5	5.85	5.85	0.93711	.	0.139046	0.45361	D	0.000361	T	0.74419	0.3714	L	0.50333	1.59	0.80722	D	1	D;P	0.53885	0.963;0.938	P;B	0.50754	0.649;0.446	T	0.77645	-0.2510	10	0.87932	D	0	.	16.2416	0.82411	0.0:0.0:0.0:1.0	.	2144;2169	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2144;2169	ENSP00000349685:V2144G;ENSP00000351346:V2169G	ENSP00000349685:V2144G	V	+	2	0	VPS13B	100781313	0.995000	0.38212	0.565000	0.28409	0.590000	0.36582	6.345000	0.72995	2.229000	0.72834	0.533000	0.62120	GTC		0.423	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100732575	100732575	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100732575C>A	ENST00000358544.2	+	38	6846	c.6735C>A	c.(6733-6735)gtC>gtA	p.V2245V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2220V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2245					protein transport (GO:0015031)			p.V2245V(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTAAAGGTCTTCTGGGGTC	0.284																																					p.V2220V	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6660A	8						.						41.0	41.0	41.0					8																	100732575		2203	4300	6503	100801751	SO:0001819	synonymous_variant	157680	exon38			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6735C>A	8.37:g.100732575C>A			100801751	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.284	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100733094	100733094	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100733094C>A	ENST00000358544.2	+	39	7055	c.6944C>A	c.(6943-6945)tCt>tAt	p.S2315Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S2290Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2315					protein transport (GO:0015031)			p.S2315Y(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGACAGAATCTTTGAAATTG	0.323																																					p.S2290Y	Colon(161;2205 2542 7338 31318)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6869A	8						.						27.0	28.0	28.0					8																	100733094		2200	4298	6498	100802270	SO:0001583	missense	157680	exon39			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6944C>A	8.37:g.100733094C>A	ENSP00000351346:p.Ser2315Tyr		100802270	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919082	0.33908	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69685	-0.42;-0.42	5.94	4.16	0.48862	.	0.565355	0.18121	N	0.151040	T	0.54727	0.1876	N	0.24115	0.695	0.80722	D	1	P;P	0.42649	0.786;0.681	B;B	0.40228	0.323;0.172	T	0.51911	-0.8645	10	0.51188	T	0.08	.	14.1716	0.65512	0.1109:0.8284:0.0:0.0607	.	2290;2315	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2290;2315	ENSP00000349685:S2290Y;ENSP00000351346:S2315Y	ENSP00000349685:S2290Y	S	+	2	0	VPS13B	100802270	1.000000	0.71417	0.997000	0.53966	0.708000	0.40852	2.916000	0.48813	0.428000	0.26173	-0.808000	0.03180	TCT		0.323	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
RGS22	26166	broad.mit.edu	37	8	100975155	100975155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:100975155G>T	ENST00000360863.6	-	25	3861	c.3667C>A	c.(3667-3669)Ctt>Att	p.L1223I	RGS22_ENST00000523287.1_Missense_Mutation_p.L1042I|RGS22_ENST00000523437.1_Missense_Mutation_p.L1211I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1223					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.L1223I(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATCTTAAGAAGAATTCTCTCC	0.308																																					p.L1223I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3667A	8						.						68.0	65.0	66.0					8																	100975155		1802	4062	5864	101044331	SO:0001583	missense	26166	exon25			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3667C>A	8.37:g.100975155G>T	ENSP00000354109:p.Leu1223Ile		101044331	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734532	0.69189	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000517843;ENST00000523437	T;T;T	0.55588	0.55;0.51;0.54	5.03	4.14	0.48551	.	0.000000	0.64402	D	0.000004	T	0.68091	0.2963	M	0.71581	2.175	0.26143	N	0.980251	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.987;0.987;0.994	T	0.59359	-0.7469	10	0.51188	T	0.08	.	11.3655	0.49668	0.0922:0.0:0.9078:0.0	.	1211;1223;1042	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	I	1223;1210;1042;95;1211	ENSP00000354109:L1223I;ENSP00000429382:L1042I;ENSP00000428212:L1211I	ENSP00000354109:L1223I	L	-	1	0	RGS22	101044331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.430000	0.52807	2.488000	0.83962	0.491000	0.48974	CTT		0.308	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101011531	101011531	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101011531A>G	ENST00000360863.6	-	19	3102	c.2908T>C	c.(2908-2910)Ttt>Ctt	p.F970L	RGS22_ENST00000523287.1_Missense_Mutation_p.F789L|RGS22_ENST00000523437.1_Missense_Mutation_p.F958L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	970	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.F970L(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGCAAGAAACAATGGCAGC	0.388																																					p.F970L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2908C	8						.						87.0	82.0	83.0					8																	101011531		1846	4101	5947	101080707	SO:0001583	missense	26166	exon19			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2908T>C	8.37:g.101011531A>G	ENSP00000354109:p.Phe970Leu		101080707	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733571	0.89482	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.63744	-0.06;-0.06;-0.06	4.91	4.91	0.64330	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	M	0.74881	2.28	0.37520	D	0.917499	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.83275	0.996;0.996;0.99	D	0.83738	0.0202	10	0.72032	D	0.01	.	14.5442	0.68017	1.0:0.0:0.0:0.0	.	958;970;789	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	970;957;789;958	ENSP00000354109:F970L;ENSP00000429382:F789L;ENSP00000428212:F958L	ENSP00000354109:F970L	F	-	1	0	RGS22	101080707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.208000	0.77907	1.835000	0.53391	0.482000	0.46254	TTT		0.388	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101018266	101018266	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101018266C>A	ENST00000360863.6	-	16	2627	c.2433G>T	c.(2431-2433)gaG>gaT	p.E811D	RGS22_ENST00000523287.1_Missense_Mutation_p.E630D|RGS22_ENST00000523437.1_Missense_Mutation_p.E799D|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	811					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E811D(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGGAAAATGTCTCTTTATGCA	0.398																																					p.E811D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2433T	8						.						112.0	108.0	109.0					8																	101018266		1828	4093	5921	101087442	SO:0001583	missense	26166	exon16			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2433G>T	8.37:g.101018266C>A	ENSP00000354109:p.Glu811Asp		101087442	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621292	0.28889	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.50277	1.31;1.3;1.31;0.75	5.83	-1.94	0.07571	.	0.291169	0.32416	N	0.006125	T	0.36690	0.0976	M	0.66939	2.045	0.09310	N	1	B;B;B	0.18166	0.012;0.012;0.026	B;B;B	0.16289	0.007;0.007;0.015	T	0.25257	-1.0137	10	0.51188	T	0.08	.	3.9073	0.09188	0.096:0.3794:0.0945:0.4302	.	799;811;630	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	D	811;799;630;799;126	ENSP00000354109:E811D;ENSP00000429382:E630D;ENSP00000428212:E799D;ENSP00000427754:E126D	ENSP00000354109:E811D	E	-	3	2	RGS22	101087442	0.001000	0.12720	0.018000	0.16275	0.803000	0.45373	-0.690000	0.05138	-0.413000	0.07507	0.591000	0.81541	GAG		0.398	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101076056	101076056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101076056C>A	ENST00000360863.6	-	8	1134	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	RGS22_ENST00000523287.1_Nonsense_Mutation_p.E133*|RGS22_ENST00000523437.1_Nonsense_Mutation_p.E302*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	314					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E314*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTAAAAATTCTTCACATGTT	0.363																																					p.E314X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G940T	8						.						66.0	64.0	65.0					8																	101076056		1825	4072	5897	101145232	SO:0001587	stop_gained	26166	exon8			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.940G>T	8.37:g.101076056C>A	ENSP00000354109:p.Glu314*		101145232	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	38	7.049313	0.98029	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	.	.	.	5.86	4.94	0.65067	.	0.263587	0.37178	N	0.002215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.672	0.88221	0.0:0.8775:0.1225:0.0	.	.	.	.	X	314;302;133;302	.	ENSP00000354109:E314X	E	-	1	0	RGS22	101145232	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	2.778000	0.47726	2.937000	0.99478	0.650000	0.86243	GAA		0.363	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101117607	101117607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101117607C>A	ENST00000360863.6	-	2	243	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	17					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E17*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTACAAATTCTTCTTCTGTA	0.328																																					p.E17X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G49T	8						.						94.0	98.0	97.0					8																	101117607		1823	4076	5899	101186783	SO:0001587	stop_gained	26166	exon2			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.49G>T	8.37:g.101117607C>A	ENSP00000354109:p.Glu17*		101186783	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	c	33	5.194701	0.94960	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	.	.	.	4.96	4.05	0.47172	.	1.402410	0.04637	N	0.404745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.8233	0.29300	0.0:0.8791:0.0:0.1209	.	.	.	.	X	17	.	ENSP00000354109:E17X	E	-	1	0	RGS22	101186783	0.594000	0.26849	0.817000	0.32601	0.974000	0.67602	2.115000	0.41921	1.212000	0.43366	0.651000	0.88453	GAA		0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
FBXO43	286151	broad.mit.edu	37	8	101154374	101154374	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101154374C>T	ENST00000428847.2	-	2	424	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	36					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S2S(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTGCCTTTGCGACATCTTCA	0.418																																					p.S36S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G108A	8						.						78.0	82.0	81.0					8																	101154374		2001	4179	6180	101223550	SO:0001819	synonymous_variant	286151	exon2			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.108G>A	8.37:g.101154374C>T			101223550	NM_001029860		Silent	SNP	ENST00000428847.2	37	CCDS47904.1																																																																																				0.418	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
SPAG1	6674	broad.mit.edu	37	8	101243396	101243396	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101243396T>G	ENST00000388798.2	+	15	2059	c.1868T>G	c.(1867-1869)tTt>tGt	p.F623C	SPAG1_ENST00000523302.1_3'UTR|SPAG1_ENST00000251809.3_Missense_Mutation_p.F623C	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	623					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.F623C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GAAAAAACATTTAAAGCCCTT	0.308																																					p.F623C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1868G	8						.						73.0	74.0	74.0					8																	101243396		2203	4296	6499	101312572	SO:0001583	missense	6674	exon15			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.1868T>G	8.37:g.101243396T>G	ENSP00000373450:p.Phe623Cys		101312572	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487548	0.44249	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.74106	-0.81;-0.81	5.41	4.24	0.50183	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.520245	0.22370	N	0.060946	T	0.74809	0.3765	M	0.62723	1.935	0.58432	D	0.999995	P	0.50819	0.939	P	0.47744	0.556	T	0.74153	-0.3757	10	0.46703	T	0.11	-18.0341	11.0187	0.47705	0.0:0.0743:0.0:0.9257	.	623	Q07617	SPAG1_HUMAN	C	623	ENSP00000251809:F623C;ENSP00000373450:F623C	ENSP00000251809:F623C	F	+	2	0	SPAG1	101312572	1.000000	0.71417	0.106000	0.21319	0.065000	0.16274	7.019000	0.76412	0.991000	0.38814	0.533000	0.62120	TTT		0.308	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
RNF19A	25897	broad.mit.edu	37	8	101271373	101271373	+	Missense_Mutation	SNP	C	C	T	rs563127836	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101271373C>T	ENST00000519449.1	-	11	2244	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	RNF19A_ENST00000523255.1_5'UTR|RNF19A_ENST00000341084.2_Missense_Mutation_p.R643Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	643					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R643Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			AGCATGACTTCGGGTGGCACT	0.483											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0	0.0	5008	,	,		20563	0.0		0.0	False		,,,				2504	0.0041				p.R643Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1928A	8						.						130.0	115.0	120.0					8																	101271373		2203	4300	6503	101340549	SO:0001583	missense	25897	exon11			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1928G>A	8.37:g.101271373C>T	ENSP00000428968:p.Arg643Gln	1357	101340549	NM_015435	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163361	0.57476	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84146	-1.81;-1.81	5.74	5.74	0.90152	.	0.452265	0.22331	N	0.061480	T	0.79936	0.4532	L	0.47716	1.5	0.51482	D	0.999925	P	0.47253	0.892	B	0.35182	0.197	T	0.78481	-0.2187	10	0.21540	T	0.41	.	19.5387	0.95266	0.0:1.0:0.0:0.0	.	643	Q9NV58	RN19A_HUMAN	Q	643	ENSP00000428968:R643Q;ENSP00000342667:R643Q	ENSP00000342667:R643Q	R	-	2	0	RNF19A	101340549	1.000000	0.71417	0.745000	0.31077	0.267000	0.26476	4.542000	0.60677	2.708000	0.92522	0.585000	0.79938	CGA		0.483	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
RNF19A	25897	broad.mit.edu	37	8	101282122	101282122	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101282122C>T	ENST00000519449.1	-	5	1319	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Missense_Mutation_p.E335K	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	335					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E335K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTGAGATTTCTTTCATACAC	0.313																																					p.E335K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	8						.						98.0	89.0	92.0					8																	101282122		2203	4300	6503	101351298	SO:0001583	missense	25897	exon5			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1003G>A	8.37:g.101282122C>T	ENSP00000428968:p.Glu335Lys		101351298	NM_015435	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435532	0.96150	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	T;T	0.80909	-1.43;-1.43	5.57	5.57	0.84162	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	L	0.31065	0.9	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85928	0.1450	10	0.54805	T	0.06	.	19.1637	0.93544	0.0:1.0:0.0:0.0	.	335	Q9NV58	RN19A_HUMAN	K	335	ENSP00000428968:E335K;ENSP00000342667:E335K	ENSP00000342667:E335K	E	-	1	0	RNF19A	101351298	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.744000	0.85034	2.623000	0.88846	0.585000	0.79938	GAA		0.313	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
RNF19A	25897	broad.mit.edu	37	8	101287231	101287231	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:101287231C>A	ENST00000519449.1	-	4	1149	c.833G>T	c.(832-834)aGa>aTa	p.R278I	RNF19A_ENST00000341084.2_Missense_Mutation_p.R278I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	278					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R278I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACGTATAGTTCTCAAACGTAA	0.408																																					p.R278I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833T	8						.						85.0	84.0	84.0					8																	101287231		2203	4300	6503	101356407	SO:0001583	missense	25897	exon4			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.833G>T	8.37:g.101287231C>A	ENSP00000428968:p.Arg278Ile		101356407	NM_015435	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308005	0.95629	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85258	-1.96;-1.96	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89568	0.3811	10	0.72032	D	0.01	.	19.2824	0.94057	0.0:1.0:0.0:0.0	.	278	Q9NV58	RN19A_HUMAN	I	278	ENSP00000428968:R278I;ENSP00000342667:R278I	ENSP00000342667:R278I	R	-	2	0	RNF19A	101356407	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.651000	0.83577	2.880000	0.98712	0.650000	0.86243	AGA		0.408	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
GRHL2	79977	broad.mit.edu	37	8	102589728	102589728	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:102589728G>A	ENST00000251808.3	+	7	1322	c.984G>A	c.(982-984)aaG>aaA	p.K328K	GRHL2_ENST00000395927.1_Silent_p.K312K	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	328					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K328K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATACGGCGAAGCAGAGGGTCC	0.483																																					p.K328K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G984A	8						.						122.0	101.0	108.0					8																	102589728		2203	4300	6503	102658904	SO:0001819	synonymous_variant	79977	exon7			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.984G>A	8.37:g.102589728G>A			102658904	NM_024915	A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	CCDS34931.1																																																																																				0.483	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
UBR5	51366	broad.mit.edu	37	8	103317461	103317461	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:103317461C>A	ENST00000520539.1	-	21	3285	c.2679G>T	c.(2677-2679)atG>atT	p.M893I	UBR5_ENST00000220959.4_Missense_Mutation_p.M893I|UBR5_ENST00000521922.1_Missense_Mutation_p.M887I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	893					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.M893I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTCAAGATTCATTAGATATT	0.408																																					p.M893I	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2679T	8						.						159.0	157.0	158.0					8																	103317461		2203	4300	6503	103386637	SO:0001583	missense	51366	exon21			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2679G>T	8.37:g.103317461C>A	ENSP00000429084:p.Met893Ile		103386637	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.816557|1.816557	0.32145|0.32145	.|.	.|.	ENSG00000104517|ENSG00000104517	ENST00000519365|ENST00000520539;ENST00000220959;ENST00000521922	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.304265	.|0.35013	.|N	.|0.003511	.|T	.|0.28665	.|0.0710	N|N	0.14661|0.14661	0.345|0.345	0.38095|0.38095	D|D	0.937081|0.937081	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	.|T	.|0.09907	.|-1.0653	.|10	.|0.22109	.|T	.|0.4	.|.	18.0346|18.0346	0.89296|0.89296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|887;893	.|E7EMW7;O95071	.|.;UBR5_HUMAN	X|I	9|893;893;887	.|ENSP00000429084:M893I;ENSP00000220959:M893I;ENSP00000427819:M887I	.|ENSP00000220959:M893I	E|M	-|-	1|3	0|0	UBR5|UBR5	103386637|103386637	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	3.140000|3.140000	0.50585|0.50585	2.268000|2.268000	0.75426|0.75426	0.305000|0.305000	0.20034|0.20034	GAA|ATG		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
UBR5	51366	broad.mit.edu	37	8	103354761	103354761	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:103354761C>A	ENST00000520539.1	-	9	1644	c.1038G>T	c.(1036-1038)aaG>aaT	p.K346N	UBR5_ENST00000220959.4_Missense_Mutation_p.K346N|UBR5_ENST00000521922.1_Missense_Mutation_p.K340N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	346					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.K346N(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGGTGTATTCTTCTTATCCA	0.418																																					p.K346N	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1038T	8						.						192.0	179.0	184.0					8																	103354761		2203	4300	6503	103423937	SO:0001583	missense	51366	exon9			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1038G>T	8.37:g.103354761C>A	ENSP00000429084:p.Lys346Asn		103423937	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654420	0.67472	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.8;0.8;0.79	5.25	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	L	0.54323	1.7	0.58432	D	0.999994	D;D	0.57899	0.981;0.981	D;D	0.67231	0.95;0.95	T	0.65776	-0.6086	10	0.72032	D	0.01	.	14.1332	0.65268	0.0:0.9273:0.0:0.0727	.	340;346	E7EMW7;O95071	.;UBR5_HUMAN	N	346;346;340	ENSP00000429084:K346N;ENSP00000220959:K346N;ENSP00000427819:K340N	ENSP00000220959:K346N	K	-	3	2	UBR5	103423937	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	4.939000	0.63526	1.345000	0.45676	0.655000	0.94253	AAG		0.418	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
UBR5	51366	broad.mit.edu	37	8	103373836	103373836	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:103373836C>A	ENST00000520539.1	-	2	687	c.81G>T	c.(79-81)gaG>gaT	p.E27D	UBR5_ENST00000220959.4_Missense_Mutation_p.E27D|UBR5_ENST00000521922.1_Missense_Mutation_p.E27D	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	27					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E27D(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTTCAGCTTCTCAGAAACTT	0.284																																					p.E27D	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G81T	8						.						38.0	38.0	38.0					8																	103373836		2198	4287	6485	103443012	SO:0001583	missense	51366	exon2			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.81G>T	8.37:g.103373836C>A	ENSP00000429084:p.Glu27Asp		103443012	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778848	0.16120	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.91;0.91;0.9	5.98	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	N	0.12182	0.205	0.41456	D	0.988011	P;P	0.35745	0.518;0.518	P;P	0.48654	0.585;0.585	T	0.11567	-1.0582	10	0.02654	T	1	.	12.6685	0.56855	0.0:0.8672:0.0:0.1328	.	27;27	E7EMW7;O95071	.;UBR5_HUMAN	D	27	ENSP00000429084:E27D;ENSP00000220959:E27D;ENSP00000427819:E27D	ENSP00000220959:E27D	E	-	3	2	UBR5	103443012	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.796000	0.26986	0.881000	0.35993	0.591000	0.81541	GAG		0.284	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
PRSS55	203074	broad.mit.edu	37	8	10387083	10387083	+	Missense_Mutation	SNP	C	C	T	rs144558050		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10387083C>T	ENST00000328655.3	+	2	261	c.221C>T	c.(220-222)gCg>gTg	p.A74V	PRSS55_ENST00000522210.1_Missense_Mutation_p.A74V|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	74	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.A74V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGGATGGAGGCGGAGGTGGGT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18508	0.001		0.0	False		,,,				2504	0.0				p.A74V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C221T	8						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	220.0	217.0	218.0		221,221	3.2	0.9	8	dbSNP_134	218	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PRSS55	NM_001197020.1,NM_198464.3	64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	74/277,74/353	10387083	2,13004	2203	4300	6503	10424493	SO:0001583	missense	203074	exon2			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.221C>T	8.37:g.10387083C>T	ENSP00000333003:p.Ala74Val		10424493	NM_001197020	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770965	0.49680	0.0	2.33E-4	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.94417	-3.42;-3.42	4.05	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94434	0.8209	L	0.35644	1.08	0.40607	D	0.981638	D	0.89917	1.0	D	0.91635	0.999	D	0.93518	0.6859	9	0.62326	D	0.03	.	8.0557	0.30604	0.0:0.8904:0.0:0.1096	.	74	Q6UWB4	PRS55_HUMAN	V	74	ENSP00000333003:A74V;ENSP00000430459:A74V	ENSP00000333003:A74V	A	+	2	0	PRSS55	10424493	0.928000	0.31464	0.903000	0.35520	0.129000	0.20672	1.921000	0.40035	1.291000	0.44653	-0.215000	0.12644	GCG		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
PRSS55	203074	broad.mit.edu	37	8	10396121	10396121	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10396121C>A	ENST00000328655.3	+	5	917	c.877C>A	c.(877-879)Ctc>Atc	p.L293I	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	293	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.L293I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GAACTACAACCTCTGGATCGA	0.537																																					p.L293I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877A	8						.						110.0	115.0	114.0					8																	10396121		2203	4300	6503	10433531	SO:0001583	missense	203074	exon5			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.877C>A	8.37:g.10396121C>A	ENSP00000333003:p.Leu293Ile		10433531	NM_198464	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	8.853	0.945163	0.18356	.	.	ENSG00000184647	ENST00000328655	D	0.92805	-3.11	4.2	-1.35	0.09114	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.398600	0.02386	N	0.079274	T	0.81754	0.4889	N	0.14661	0.345	0.09310	N	1	P	0.37573	0.6	B	0.32465	0.146	T	0.74090	-0.3777	10	0.59425	D	0.04	.	1.3548	0.02180	0.1599:0.3275:0.3127:0.1998	.	293	Q6UWB4	PRS55_HUMAN	I	293	ENSP00000333003:L293I	ENSP00000333003:L293I	L	+	1	0	PRSS55	10433531	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.210000	0.17455	-0.401000	0.07644	-1.113000	0.02065	CTC		0.537	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
PRSS55	203074	broad.mit.edu	37	8	10396185	10396185	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10396185C>A	ENST00000328655.3	+	5	981	c.941C>A	c.(940-942)tCt>tAt	p.S314Y	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	314						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S314Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGAGGACTTCTGTCAAACAG	0.562																																					p.S314Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C941A	8						.						106.0	117.0	113.0					8																	10396185		2203	4300	6503	10433595	SO:0001583	missense	203074	exon5			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.941C>A	8.37:g.10396185C>A	ENSP00000333003:p.Ser314Tyr		10433595	NM_198464	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713379	0.30413	.	.	ENSG00000184647	ENST00000328655	D	0.88975	-2.45	3.36	-2.45	0.06481	.	2.889210	0.01692	N	0.026710	T	0.80330	0.4603	L	0.27053	0.805	0.09310	N	1	P	0.52316	0.952	P	0.45881	0.496	T	0.70479	-0.4860	10	0.02654	T	1	.	4.4886	0.11803	0.0:0.3583:0.1686:0.4731	.	314	Q6UWB4	PRS55_HUMAN	Y	314	ENSP00000333003:S314Y	ENSP00000333003:S314Y	S	+	2	0	PRSS55	10433595	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.320000	0.19540	-0.569000	0.06030	-0.345000	0.07892	TCT		0.562	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
ODF1	4956	broad.mit.edu	37	8	103564039	103564039	+	Silent	SNP	C	C	T	rs142790437		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:103564039C>T	ENST00000285402.3	+	1	240	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	28					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.I28I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAGATGCATCGACGAATTTA	0.483																																					p.I28I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	8						.	T		1,4405	2.1+/-5.4	0,1,2202	326.0	245.0	273.0		84	0.6	1.0	8	dbSNP_134	273	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ODF1	NM_024410.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		28/251	103564039	2,13004	2203	4300	6503	103633215	SO:0001819	synonymous_variant	4956	exon1			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.84C>T	8.37:g.103564039C>T			103633215	NM_024410	Q3SX72	Silent	SNP	ENST00000285402.3	37	CCDS6293.1																																																																																				0.483	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
FZD6	8323	broad.mit.edu	37	8	104336800	104336800	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104336800G>T	ENST00000358755.4	+	4	783	c.466G>T	c.(466-468)Gac>Tac	p.D156Y	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.D156Y|FZD6_ENST00000523739.1_Missense_Mutation_p.D124Y	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	156					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D156Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTCCAAAGAGACATTGGATT	0.423																																					p.D156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466T	8						.						68.0	73.0	71.0					8																	104336800		2203	4300	6503	104405976	SO:0001583	missense	8323	exon4			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.466G>T	8.37:g.104336800G>T	ENSP00000351605:p.Asp156Tyr		104405976	NM_001164615	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197203	0.79015	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.77877	-1.09;-1.09;-1.13	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.988;0.99	D	0.88552	0.3117	10	0.66056	D	0.02	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	101;156;156	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	Y	156;156;124;101	ENSP00000429055:D156Y;ENSP00000351605:D156Y;ENSP00000429528:D124Y	ENSP00000351605:D156Y	D	+	1	0	FZD6	104405976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.745000	0.94114	0.491000	0.48974	GAC		0.423	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
FZD6	8323	broad.mit.edu	37	8	104337567	104337567	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104337567G>T	ENST00000358755.4	+	4	1550	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N	FZD6_ENST00000540287.1_Missense_Mutation_p.K106N|FZD6_ENST00000522566.1_Missense_Mutation_p.K411N|FZD6_ENST00000523739.1_Missense_Mutation_p.K379N	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	411					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.K411N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAAAACTAAAGAAATTTATGA	0.403																																					p.K411N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1233T	8						.						141.0	136.0	138.0					8																	104337567		2203	4300	6503	104406743	SO:0001583	missense	8323	exon4			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1233G>T	8.37:g.104337567G>T	ENSP00000351605:p.Lys411Asn		104406743	NM_001164615	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679325	0.68042	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	6.03	4.25	0.50352	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	L	0.41236	1.265	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.992;0.999;0.999;0.992	D	0.85039	0.0922	10	0.41790	T	0.15	.	13.0078	0.58715	0.1309:0.0:0.8691:0.0	.	356;106;411;411	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	N	411;411;379;106;356	ENSP00000429055:K411N;ENSP00000351605:K411N;ENSP00000429528:K379N;ENSP00000443757:K106N	ENSP00000351605:K411N	K	+	3	2	FZD6	104406743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.475000	0.53136	0.882000	0.36016	0.557000	0.71058	AAG		0.403	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
CTHRC1	115908	broad.mit.edu	37	8	104390331	104390331	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104390331G>A	ENST00000330295.5	+	3	591	c.449G>A	c.(448-450)aGa>aAa	p.R150K	CTHRC1_ENST00000520337.1_Missense_Mutation_p.R136K|CTHRC1_ENST00000520880.1_Missense_Mutation_p.R20K	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	150					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.R150K(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			CTAAAATGCAGAAATGCATGC	0.408																																					p.R150K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	8						.						185.0	180.0	181.0					8																	104390331		2203	4300	6503	104459507	SO:0001583	missense	115908	exon3			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.449G>A	8.37:g.104390331G>A	ENSP00000330523:p.Arg150Lys		104459507	NM_138455	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703793	0.15172	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.62498	0.02;1.01	5.3	3.47	0.39725	.	0.098439	0.64402	D	0.000002	T	0.28665	0.0710	N	0.02916	-0.46	0.29568	N	0.85009	B	0.02656	0.0	B	0.04013	0.001	T	0.27706	-1.0066	10	0.02654	T	1	-22.3828	8.3784	0.32457	0.2707:0.0:0.7293:0.0	.	150	Q96CG8	CTHR1_HUMAN	K	150;136;136;20	ENSP00000330523:R150K;ENSP00000430550:R136K	ENSP00000297577:R136K	R	+	2	0	CTHRC1	104459507	1.000000	0.71417	0.939000	0.37840	0.998000	0.95712	4.373000	0.59537	2.472000	0.83506	0.655000	0.94253	AGA		0.408	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
SLC25A32	81034	broad.mit.edu	37	8	104419968	104419968	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104419968G>A	ENST00000297578.4	-	2	365	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	67					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)	p.H67Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTCAAGCAATGTAAAATTCCA	0.413																																					p.H67Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	8						.						161.0	158.0	159.0					8																	104419968		2203	4300	6503	104489144	SO:0001583	missense	81034	exon2			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.199C>T	8.37:g.104419968G>A	ENSP00000297578:p.His67Tyr		104489144	NM_030780	Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120883	0.94385	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.78481	-1.18	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	M	0.85710	2.77	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	D	0.89754	0.3942	10	0.66056	D	0.02	-18.7509	20.6013	0.99457	0.0:0.0:1.0:0.0	.	67	Q9H2D1	MFTC_HUMAN	Y	67;51	ENSP00000297578:H67Y	ENSP00000297578:H67Y	H	-	1	0	SLC25A32	104489144	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.209000	0.95087	2.878000	0.98634	0.650000	0.86243	CAT		0.413	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	
DCAF13	25879	broad.mit.edu	37	8	104432596	104432596	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104432596C>A	ENST00000297579.5	+	2	908	c.631C>A	c.(631-633)Ctt>Att	p.L211I	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Missense_Mutation_p.L55I|DCAF13_ENST00000521716.1_Missense_Mutation_p.L55I|DCAF13_ENST00000521971.1_Missense_Mutation_p.L55I	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	59					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L211I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAAACCATTCCTTGCTTCGCT	0.458																																					p.L211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631A	8						.						107.0	99.0	102.0					8																	104432596		2203	4300	6503	104501772	SO:0001583	missense	25879	exon2			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.631C>A	8.37:g.104432596C>A	ENSP00000297579:p.Leu211Ile		104501772	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	C	7.520	0.656418	0.14580	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.61859	0.07;5.01;0.07;0.07	5.2	5.2	0.72013	.	0.363431	0.29389	N	0.012297	T	0.32852	0.0843	N	0.04686	-0.185	0.43874	D	0.996481	B	0.18968	0.032	B	0.22152	0.038	T	0.21690	-1.0238	10	0.12430	T	0.62	-22.0953	10.3178	0.43747	0.1509:0.7032:0.1458:0.0	.	59	B3KME9	.	I	211;55;55;59;55	ENSP00000297579:L211I;ENSP00000430645:L55I;ENSP00000430883:L55I;ENSP00000430411:L55I	ENSP00000297579:L211I	L	+	1	0	DCAF13	104501772	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.006000	0.40874	2.420000	0.82092	0.655000	0.94253	CTT		0.458	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
DCAF13	25879	broad.mit.edu	37	8	104433296	104433296	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104433296A>G	ENST00000297579.5	+	3	1097	c.820A>G	c.(820-822)Act>Gct	p.T274A	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Missense_Mutation_p.T118A|DCAF13_ENST00000521971.1_Intron	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	122					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.T274A(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTTTGTGGGACTTCTTTTTT	0.308																																					p.T274A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A820G	8						.						117.0	108.0	111.0					8																	104433296		2203	4300	6503	104502472	SO:0001583	missense	25879	exon3			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.820A>G	8.37:g.104433296A>G	ENSP00000297579:p.Thr274Ala		104502472	NM_015420	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	ENST00000297579.5	37	CCDS34934.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021534	0.35701	.	.	ENSG00000164934	ENST00000297579;ENST00000519682	T;T	0.60548	0.18;0.18	5.17	3.97	0.46021	.	0.160329	0.56097	D	0.000039	T	0.42314	0.1197	L	0.35249	1.045	0.47065	D	0.999308	B	0.21225	0.053	B	0.23574	0.047	T	0.14364	-1.0475	10	0.11794	T	0.64	-13.5752	9.8191	0.40871	0.7262:0.0:0.0:0.2738	.	122	B3KME9	.	A	274;118	ENSP00000297579:T274A;ENSP00000430411:T118A	ENSP00000297579:T274A	T	+	1	0	DCAF13	104502472	0.995000	0.38212	0.996000	0.52242	0.942000	0.58702	3.866000	0.56040	0.777000	0.33496	0.533000	0.62120	ACT		0.308	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380797.2	NM_015420	
RIMS2	9699	broad.mit.edu	37	8	104898068	104898068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104898068G>T	ENST00000436393.2	+	2	816	c.575G>T	c.(574-576)aGa>aTa	p.R192I	RIMS2_ENST00000406091.3_Missense_Mutation_p.R414I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R222I|RIMS2_ENST00000507740.1_Missense_Mutation_p.R222I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	445					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.R192I(1)|p.R222I(1)|p.R450I(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)			TCAATGGAAAGAACTCGAGAG	0.468										HNSCC(12;0.0054)																											p.R414I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1241T	8						.						71.0	68.0	69.0					8																	104898068		1924	4132	6056	104967244	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.575G>T	8.37:g.104898068G>T	ENSP00000390665:p.Arg192Ile		104967244	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	28.1	4.890325	0.91889	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.65	5.65	0.86999	.	.	.	.	.	T	0.63105	0.2483	L	0.54323	1.7	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.995;0.876;1.0;0.967	D;D;P;D;P	0.87578	0.979;0.987;0.646;0.998;0.761	T	0.63985	-0.6513	9	0.87932	D	0	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	445;192;222;222;414	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	I	414;445;414;445;222;222;222;222;192	ENSP00000427018:R414I;ENSP00000384892:R414I;ENSP00000425205:R222I;ENSP00000262231:R222I;ENSP00000423559:R222I;ENSP00000386228:R222I;ENSP00000390665:R192I	ENSP00000262231:R222I	R	+	2	0	RIMS2	104967244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.464000	0.80887	2.653000	0.90120	0.563000	0.77884	AGA		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RP1L1	94137	broad.mit.edu	37	8	10465689	10465689	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10465689C>A	ENST00000382483.3	-	4	6142	c.5919G>T	c.(5917-5919)gaG>gaT	p.E1973D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2053	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1973D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CATCTTCTGACTCTGGCTGGG	0.602																																					p.E1973D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5919T	8						.						151.0	171.0	164.0					8																	10465689		2014	4187	6201	10503099	SO:0001583	missense	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5919G>T	8.37:g.10465689C>A	ENSP00000371923:p.Glu1973Asp		10503099	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	4.612	0.113674	0.08831	.	.	ENSG00000183638	ENST00000382483	T	0.04862	3.54	1.24	0.184	0.15086	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	P	0.51933	0.949	B	0.37304	0.246	T	0.43877	-0.9364	9	0.15952	T	0.53	.	5.981	0.19407	0.0:0.7886:0.0:0.2114	.	1973	A6NKC6	.	D	1973	ENSP00000371923:E1973D	ENSP00000371923:E1973D	E	-	3	2	RP1L1	10503099	0.000000	0.05858	0.046000	0.18839	0.107000	0.19398	-0.294000	0.08309	0.535000	0.28714	0.305000	0.20034	GAG		0.602	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	broad.mit.edu	37	8	10468304	10468304	+	Missense_Mutation	SNP	C	C	T	rs575772322		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10468304C>T	ENST00000382483.3	-	4	3527	c.3304G>A	c.(3304-3306)Gaa>Aaa	p.E1102K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1102					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1102K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTAGACACTTCGGGCACGCTG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17897	0.0		0.0	False		,,,				2504	0.001				p.E1102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3304A	8						.						49.0	56.0	54.0					8																	10468304		1922	4147	6069	10505714	SO:0001583	missense	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3304G>A	8.37:g.10468304C>T	ENSP00000371923:p.Glu1102Lys		10505714	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201370	0.79015	.	.	ENSG00000183638	ENST00000382483	D	0.81579	-1.51	4.57	4.57	0.56435	.	0.000000	0.33591	U	0.004745	D	0.84620	0.5512	L	0.32530	0.975	0.36611	D	0.875188	D	0.89917	1.0	D	0.79108	0.992	D	0.88760	0.3256	10	0.87932	D	0	-23.7293	16.5031	0.84262	0.0:1.0:0.0:0.0	.	1102	A6NKC6	.	K	1102	ENSP00000371923:E1102K	ENSP00000371923:E1102K	E	-	1	0	RP1L1	10505714	0.998000	0.40836	0.947000	0.38551	0.718000	0.41266	4.067000	0.57527	2.330000	0.79161	0.561000	0.74099	GAA		0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RIMS2	9699	broad.mit.edu	37	8	104924320	104924320	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:104924320T>G	ENST00000436393.2	+	4	1307	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V	RIMS2_ENST00000406091.3_Missense_Mutation_p.L578V|RIMS2_ENST00000262231.10_Missense_Mutation_p.L433V|RIMS2_ENST00000507740.1_Missense_Mutation_p.L386V			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	656					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.L661V(1)|p.L386V(1)|p.L356V(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)			TGGAGATCGTTTAATTGGTCG	0.318										HNSCC(12;0.0054)																											p.L578V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T1732G	8						.						110.0	109.0	109.0					8																	104924320		1832	4089	5921	104993496	SO:0001583	missense	9699	exon6			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.1066T>G	8.37:g.104924320T>G	ENSP00000390665:p.Leu356Val		104993496	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	T	19.27	3.795646	0.70452	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.25085	1.82;2.29;2.02;2.11;2.0;1.94;2.33	5.92	2.27	0.28462	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.41351	0.1155	L	0.56199	1.76	0.80722	D	1	D;P;P;P;D	0.57571	0.966;0.89;0.941;0.701;0.98	P;D;D;P;D	0.72982	0.888;0.96;0.949;0.853;0.979	T	0.17410	-1.0370	9	0.87932	D	0	.	8.9425	0.35738	0.0:0.2972:0.0:0.7028	.	656;356;433;386;578	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	V	578;609;578;656;386;433;386;386;356	ENSP00000427018:L578V;ENSP00000384892:L578V;ENSP00000425205:L386V;ENSP00000262231:L433V;ENSP00000423559:L386V;ENSP00000386228:L386V;ENSP00000390665:L356V	ENSP00000262231:L433V	L	+	1	2	RIMS2	104993496	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.274000	0.33132	0.478000	0.27488	0.528000	0.53228	TTA		0.318	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RP1L1	94137	broad.mit.edu	37	8	10469845	10469845	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10469845T>C	ENST00000382483.3	-	4	1986	c.1763A>G	c.(1762-1764)gAc>gGc	p.D588G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	588					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.D588G(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCTGCAGGTCGTCACTCCT	0.642																																					p.D588G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1763G	8						.						73.0	83.0	80.0					8																	10469845		2097	4219	6316	10507255	SO:0001583	missense	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1763A>G	8.37:g.10469845T>C	ENSP00000371923:p.Asp588Gly		10507255	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604566	0.28623	.	.	ENSG00000183638	ENST00000382483	T	0.05382	3.45	4.34	-4.33	0.03677	.	0.688754	0.11976	N	0.511272	T	0.03348	0.0097	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.42189	-0.9466	10	0.30078	T	0.28	-5.0173	6.1792	0.20461	0.1645:0.5292:0.0:0.3064	.	588	A6NKC6	.	G	588	ENSP00000371923:D588G	ENSP00000371923:D588G	D	-	2	0	RP1L1	10507255	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-0.501000	0.06398	-0.377000	0.07930	0.374000	0.22700	GAC		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	broad.mit.edu	37	8	10470381	10470381	+	Silent	SNP	C	C	T	rs201081190		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10470381C>T	ENST00000382483.3	-	4	1450	c.1227G>A	c.(1225-1227)acG>acA	p.T409T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	409					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T409T(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGGGATTCGTCCAGATTT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16313	0.001		0.0	False		,,,				2504	0.0				p.T409T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1227A	8						.						41.0	48.0	46.0					8																	10470381		1965	4136	6101	10507791	SO:0001819	synonymous_variant	94137	exon4			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1227G>A	8.37:g.10470381C>T			10507791	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RIMS2	9699	broad.mit.edu	37	8	105001556	105001556	+	Missense_Mutation	SNP	G	G	A	rs376934485		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:105001556G>A	ENST00000436393.2	+	15	2526	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R984Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R823Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R776Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1046					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.R1051Q(1)|p.R776Q(1)|p.R762Q(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)			CAGGGGCTTCGAGGGACCCGC	0.393										HNSCC(12;0.0054)																											p.R984Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2951A	8						.	G	GLN/ARG,GLN/ARG	1,3741		0,1,1870	132.0	130.0	130.0		2951,2327	5.5	1.0	8		130	0,8198		0,0,4099	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	43,43	0,1,5969	AA,AG,GG		0.0,0.0267,0.0084	probably-damaging,probably-damaging	984/1350,776/1164	105001556	1,11939	1871	4099	5970	105070732	SO:0001583	missense	9699	exon17			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.2285G>A	8.37:g.105001556G>A	ENSP00000390665:p.Arg762Gln		105070732	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	19.95	3.922543	0.73213	2.67E-4	0.0	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.23348	1.91;2.45;2.27;1.99;1.92;2.49	5.54	5.54	0.83059	.	.	.	.	.	T	0.49949	0.1587	L	0.58810	1.83	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.978;1.0;0.984;0.995	D;P;D;P;P	0.79108	0.992;0.453;0.988;0.653;0.609	T	0.46512	-0.9186	9	0.66056	D	0.02	.	19.0702	0.93130	0.0:0.0:1.0:0.0	.	1046;762;823;776;984	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Q	984;999;984;1046;823;776;776;762	ENSP00000427018:R984Q;ENSP00000384892:R984Q;ENSP00000262231:R823Q;ENSP00000423559:R776Q;ENSP00000386228:R776Q;ENSP00000390665:R762Q	ENSP00000262231:R823Q	R	+	2	0	RIMS2	105070732	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	6.280000	0.72626	2.617000	0.88574	0.484000	0.47621	CGA		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
RIMS2	9699	broad.mit.edu	37	8	105261749	105261749	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:105261749A>G	ENST00000436393.2	+	26	3919	c.3678A>G	c.(3676-3678)ggA>ggG	p.G1226G	RIMS2_ENST00000406091.3_Silent_p.G1208G|RIMS2_ENST00000262231.10_Silent_p.G1047G|RIMS2_ENST00000507740.1_Silent_p.G1022G|RIMS2_ENST00000339750.2_Silent_p.G144G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1270					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.G1022G(1)|p.G1226G(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)			ACAAAAAGGGACAGCTGGAGG	0.403										HNSCC(12;0.0054)																											p.G1208G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A3624G	8						.						73.0	76.0	75.0					8																	105261749		1864	4088	5952	105330925	SO:0001819	synonymous_variant	9699	exon22			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.3678A>G	8.37:g.105261749A>G			105330925	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																					0.403	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DPYS	1807	broad.mit.edu	37	8	105459659	105459659	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:105459659C>A	ENST00000351513.2	-	3	628	c.496G>T	c.(496-498)Gat>Tat	p.D166Y		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	166					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.D166Y(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)			ATGTACAGATCTTTATAGGCC	0.413																																					p.D166Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496T	8						.						134.0	123.0	127.0					8																	105459659		2203	4300	6503	105528835	SO:0001583	missense	1807	exon3			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.496G>T	8.37:g.105459659C>A	ENSP00000276651:p.Asp166Tyr		105528835	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638527	0.87760	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.91295	-2.82;-2.82	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.097705	0.64402	D	0.000002	D	0.96617	0.8896	M	0.92122	3.275	0.80722	D	1	D	0.61697	0.99	D	0.67548	0.952	D	0.96595	0.9440	10	0.72032	D	0.01	-21.837	20.547	0.99278	0.0:1.0:0.0:0.0	.	166	Q14117	DPYS_HUMAN	Y	166;113	ENSP00000276651:D166Y;ENSP00000430246:D113Y	ENSP00000276651:D166Y	D	-	1	0	DPYS	105528835	1.000000	0.71417	0.064000	0.19789	0.979000	0.70002	7.487000	0.81328	2.850000	0.98022	0.650000	0.86243	GAT		0.413	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
LRP12	29967	broad.mit.edu	37	8	105507435	105507435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:105507435G>T	ENST00000276654.5	-	6	1691	c.1583C>A	c.(1582-1584)tCa>tAa	p.S528*	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Nonsense_Mutation_p.S509*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	528					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.S528*(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTCAAATGATCTTTGAGA	0.363																																					p.S528X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1583A	8						.						83.0	89.0	87.0					8																	105507435		2203	4300	6503	105576611	SO:0001587	stop_gained	29967	exon6			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1583C>A	8.37:g.105507435G>T	ENSP00000276654:p.Ser528*		105576611	NM_013437	A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	39	7.568514	0.98365	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9351	20.244	0.98389	0.0:0.0:1.0:0.0	.	.	.	.	X	509;528;117	.	ENSP00000276654:S528X	S	-	2	0	LRP12	105576611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.823000	0.86660	2.865000	0.98341	0.655000	0.94253	TCA		0.363	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
SOX7	83595	broad.mit.edu	37	8	10583419	10583419	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:10583419G>A	ENST00000304501.1	-	2	1074	c.996C>T	c.(994-996)ttC>ttT	p.F332F	SOX7_ENST00000553390.1_Silent_p.F384F|SOX7_ENST00000554914.1_Silent_p.F384F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	332	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F332F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATACTGGTCGAATTCATTGC	0.622																																					p.F332F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C996T	8						.						94.0	85.0	88.0					8																	10583419		2203	4300	6503	10620829	SO:0001819	synonymous_variant	83595	exon2			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.996C>T	8.37:g.10583419G>A			10620829	NM_031439	B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	CCDS5977.1																																																																																				0.622	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1		
LRP12	29967	broad.mit.edu	37	8	105511579	105511579	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:105511579G>T	ENST00000276654.5	-	4	549	c.441C>A	c.(439-441)atC>atA	p.I147I	LRP12_ENST00000424843.2_Silent_p.I128I	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	147	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.I147I(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTTCTAGAGATGTTGTCAT	0.368																																					p.I147I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441A	8						.						139.0	140.0	140.0					8																	105511579		2203	4300	6503	105580755	SO:0001819	synonymous_variant	29967	exon4			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.441C>A	8.37:g.105511579G>T			105580755	NM_013437	A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	CCDS6303.1																																																																																				0.368	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
ZFPM2	23414	broad.mit.edu	37	8	106814932	106814932	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:106814932G>T	ENST00000407775.2	+	8	2872	c.2622G>T	c.(2620-2622)caG>caT	p.Q874H	ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q742H|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q742H|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q605H|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	874					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q874H(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCACAAGCAGAATTTCTGCC	0.502																																					p.Q874H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2622T	8						.						45.0	43.0	44.0					8																	106814932		1947	4142	6089	106884108	SO:0001583	missense	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2622G>T	8.37:g.106814932G>T	ENSP00000384179:p.Gln874His		106884108	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555960	0.45487	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	4.78	0.61160	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.47302	-0.9128	10	0.56958	D	0.05	.	10.7496	0.46200	0.1448:0.0:0.8552:0.0	.	874	Q8WW38	FOG2_HUMAN	H	874;742;742;605	ENSP00000384179:Q874H;ENSP00000430757:Q742H;ENSP00000428720:Q742H;ENSP00000367733:Q605H	ENSP00000367733:Q605H	Q	+	3	2	ZFPM2	106884108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.134000	0.57990	1.400000	0.46741	0.655000	0.94253	CAG		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
ZFPM2	23414	broad.mit.edu	37	8	106815061	106815061	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:106815061G>A	ENST00000407775.2	+	8	3001	c.2751G>A	c.(2749-2751)gaG>gaA	p.E917E	ZFPM2_ENST00000520492.1_Silent_p.E785E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.E785E|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.E648E|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	917					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E917E(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAAAATGTGAGAAAAATGGGA	0.458																																					p.E917E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2751A	8						.						40.0	39.0	39.0					8																	106815061		1887	4117	6004	106884237	SO:0001819	synonymous_variant	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2751G>A	8.37:g.106815061G>A			106884237	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
OXR1	55074	broad.mit.edu	37	8	107715281	107715281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:107715281G>T	ENST00000442977.2	+	7	925	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Nonsense_Mutation_p.E268*|OXR1_ENST00000445937.1_Nonsense_Mutation_p.E275*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.E275*|OXR1_ENST00000517566.2_Nonsense_Mutation_p.E275*|OXR1_ENST00000497705.1_Nonsense_Mutation_p.E208*	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	276					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.E187*(1)|p.E276*(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AATGTACAAAGAAATTTTGGA	0.358																																					p.E268X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G802T	8						.						102.0	99.0	100.0					8																	107715281		2203	4300	6503	107784457	SO:0001587	stop_gained	55074	exon6			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.826G>T	8.37:g.107715281G>T	ENSP00000405424:p.Glu276*		107784457	NM_181354	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Nonsense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.455214|4.455214	0.84209|0.84209	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000517455	.|.	.|.	.|.	5.65|5.65	4.78|4.78	0.61160|0.61160	.|.	0.052534|.	0.85682|.	D|.	0.000000|.	.|T	.|0.41511	.|0.1162	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31052	.|-0.9957	.|5	0.87932|0.02654	D|T	0|1	-9.5961|-9.5961	14.6546|14.6546	0.68823|0.68823	0.0698:0.0:0.9302:0.0|0.0698:0.0:0.9302:0.0	.|.	.|.	.|.	.|.	X|N	275;275;275;276;208;268|191	.|.	ENSP00000311026:E268X|ENSP00000428339:K191N	E|K	+|+	1|3	0|2	OXR1|OXR1	107784457|107784457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.747000|9.747000	0.98863|0.98863	1.527000|1.527000	0.49086|0.49086	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
OXR1	55074	broad.mit.edu	37	8	107718611	107718611	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:107718611G>T	ENST00000442977.2	+	8	964	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Splice_Site_p.D281Y|OXR1_ENST00000445937.1_Splice_Site_p.D288Y|OXR1_ENST00000531443.1_Splice_Site_p.D288Y|OXR1_ENST00000517566.2_Splice_Site_p.D288Y|OXR1_ENST00000497705.1_Splice_Site_p.D221Y	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	289					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.D289Y(1)|p.D200Y(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TAATGACAGAGATATAGATCA	0.318																																					p.D281Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G841T	8						.						47.0	49.0	48.0					8																	107718611		2203	4299	6502	107787787	SO:0001630	splice_region_variant	55074	exon7			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.864-1G>T	8.37:g.107718611G>T			107787787	NM_181354	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.288741|4.288741	0.80914|0.80914	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.33438|.	2.26;2.26;2.25;2.24;1.41;2.32|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.311307|.	0.36444|.	N|.	0.002582|.	T|T	0.59101|0.59101	0.2169|0.2169	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.54207|.	0.965;0.941;0.782;0.965|.	P;P;P;P|.	0.62298|.	0.9;0.702;0.698;0.9|.	T|T	0.49688|0.49688	-0.8913|-0.8913	10|5	0.72032|.	D|.	0.01|.	-18.7744|-18.7744	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	281;289;221;288|.	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	Y|D	288;288;288;289;221;281|1	ENSP00000402918:D288Y;ENSP00000431966:D288Y;ENSP00000429205:D288Y;ENSP00000405424:D289Y;ENSP00000431014:D221Y;ENSP00000311026:D281Y|.	ENSP00000311026:D281Y|.	D|E	+|+	1|3	0|2	OXR1|OXR1	107787787|107787787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.789000|0.789000	0.44602|0.44602	8.985000|8.985000	0.93487|0.93487	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|GAG		0.318	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Missense_Mutation
ANGPT1	284	broad.mit.edu	37	8	108509678	108509678	+	IGR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:108509678G>T								ANGPT1 (160928 upstream) : RNA5SP275 (387043 downstream)														p.Q37K(1)									TGCCCATGTTGAATCCGGTTA	0.483																																					p.Q37K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109A	8						.						215.0	175.0	189.0					8																	108509678		2203	4300	6503	108578854	SO:0001628	intergenic_variant	284	exon1																															8.37:g.108509678G>T			108578854	NM_001146		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.389308	0.82902	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	D;D	0.83992	-1.79;-1.79	6.06	6.06	0.98353	.	0.215337	0.38492	N	0.001664	D	0.90676	0.7075	M	0.74647	2.275	0.80722	D	1	D;D	0.57571	0.98;0.98	D;D	0.63192	0.912;0.912	D	0.89071	0.3469	10	0.45353	T	0.12	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	37;37	Q5HYA0;Q15389	.;ANGP1_HUMAN	K	37	ENSP00000428340:Q37K;ENSP00000297450:Q37K	ENSP00000297450:Q37K	Q	-	1	0	ANGPT1	108578854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.880000	0.98712	0.650000	0.86243	CAA	0	0.483								
EMC2	9694	broad.mit.edu	37	8	109498750	109498750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:109498750C>T	ENST00000220853.3	+	11	852	c.817C>T	c.(817-819)Cga>Tga	p.R273*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	273						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R273*(1)									GTTTGCAGGTCGAAGTAAGAA	0.333																																					p.R273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C817T	8						.						52.0	52.0	52.0					8																	109498750		2203	4300	6503	109567926	SO:0001587	stop_gained	9694	exon11			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.817C>T	8.37:g.109498750C>T	ENSP00000220853:p.Arg273*		109567926	NM_014673	Q8WUE1	Nonsense_Mutation	SNP	ENST00000220853.3	37	CCDS6309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.773840|4.773840	0.90108|0.90108	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	.|.	.|.	.|.	5.95|5.95	5.07|5.07	0.68467|0.68467	.|.	0.105878|.	0.64402|.	D|.	0.000003|.	.|T	.|0.70859	.|0.3272	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70238	.|-0.4927	.|4	0.11182|.	T|.	0.66|.	-6.2049|-6.2049	15.0205|15.0205	0.71627|0.71627	0.0:0.9319:0.0:0.0681|0.0:0.9319:0.0:0.0681	.|.	.|.	.|.	.|.	X|L	273|121	.|.	ENSP00000220853:R273X|.	R|S	+|+	1|2	2|0	TTC35|TTC35	109567926|109567926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.760000|6.760000	0.74939|0.74939	1.509000|1.509000	0.48786|0.48786	0.563000|0.563000	0.77884|0.77884	CGA|TCG		0.333	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673	
TRHR	7201	broad.mit.edu	37	8	110100426	110100426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110100426G>T	ENST00000518632.1	+	2	1036	c.685G>T	c.(685-687)Gaa>Taa	p.E229*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.E229*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	229					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.E229*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGATCCTAAAGAAAACTCTAA	0.368																																					p.E229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G685T	8						.						65.0	64.0	64.0					8																	110100426		2202	4300	6502	110169602	SO:0001587	stop_gained	7201	exon1				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.685G>T	8.37:g.110100426G>T	ENSP00000430711:p.Glu229*		110169602	NM_003301	Q2M339	Nonsense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	37	6.121961	0.97300	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	.	.	.	5.88	5.88	0.94601	.	0.291706	0.43919	D	0.000514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-6.2639	19.2068	0.93734	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000309818:E229X	E	+	1	0	TRHR	110169602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.325000	0.79124	2.780000	0.95670	0.655000	0.94253	GAA		0.368	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
PKHD1L1	93035	broad.mit.edu	37	8	110457296	110457296	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110457296C>T	ENST00000378402.5	+	38	5302	c.5198C>T	c.(5197-5199)gCc>gTc	p.A1733V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1733	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A1735V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAGTGCCTGCCCAGTGCCAG	0.428										HNSCC(38;0.096)																											p.A1733V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5198T	8						.						164.0	157.0	159.0					8																	110457296		1917	4145	6062	110526472	SO:0001583	missense	93035	exon38			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5198C>T	8.37:g.110457296C>T	ENSP00000367655:p.Ala1733Val		110526472	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044768	0.36085	.	.	ENSG00000205038	ENST00000378402	T	0.77358	-1.09	6.17	5.28	0.74379	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.196940	0.44097	D	0.000500	T	0.71888	0.3393	L	0.46741	1.465	0.24681	N	0.993361	B	0.29671	0.254	B	0.36766	0.232	T	0.57991	-0.7715	10	0.07813	T	0.8	.	13.6613	0.62368	0.0:0.704:0.296:0.0	.	1733	Q86WI1	PKHL1_HUMAN	V	1733	ENSP00000367655:A1733V	ENSP00000367655:A1733V	A	+	2	0	PKHD1L1	110526472	0.988000	0.35896	0.970000	0.41538	0.992000	0.81027	2.724000	0.47285	1.587000	0.49959	0.655000	0.94253	GCC		0.428	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110457591	110457591	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110457591C>T	ENST00000378402.5	+	38	5597	c.5493C>T	c.(5491-5493)ccC>ccT	p.P1831P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1831	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1833P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAGCAGCCCCCCAGTAGCAT	0.498										HNSCC(38;0.096)																											p.P1831P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5493T	8						.						77.0	77.0	77.0					8																	110457591		1936	4130	6066	110526767	SO:0001819	synonymous_variant	93035	exon38			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5493C>T	8.37:g.110457591C>T			110526767	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.498	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110471996	110471996	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110471996T>G	ENST00000378402.5	+	47	7281	c.7177T>G	c.(7177-7179)Tta>Gta	p.L2393V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2393					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L2395V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGAAATATTTTAATAAGAGG	0.373										HNSCC(38;0.096)																											p.L2393V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7177G	8						.						49.0	48.0	48.0					8																	110471996		1808	4066	5874	110541172	SO:0001583	missense	93035	exon47			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7177T>G	8.37:g.110471996T>G	ENSP00000367655:p.Leu2393Val		110541172	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	4.341	0.062793	0.08388	.	.	ENSG00000205038	ENST00000378402	D	0.92249	-3.0	5.37	-0.0824	0.13698	.	0.192857	0.34088	N	0.004275	T	0.70640	0.3247	N	0.02985	-0.445	0.22521	N	0.999026	B	0.06786	0.001	B	0.08055	0.003	T	0.62637	-0.6812	10	0.02654	T	1	.	2.4734	0.04570	0.3806:0.3006:0.0:0.3188	.	2393	Q86WI1	PKHL1_HUMAN	V	2393	ENSP00000367655:L2393V	ENSP00000367655:L2393V	L	+	1	2	PKHD1L1	110541172	0.910000	0.30920	0.939000	0.37840	0.968000	0.65278	0.759000	0.26461	0.012000	0.14892	0.377000	0.23210	TTA		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110488759	110488759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110488759C>A	ENST00000378402.5	+	52	8884	c.8780C>A	c.(8779-8781)tCa>tAa	p.S2927*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2927					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S2929*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTAATTATATCACATAACTTC	0.279										HNSCC(38;0.096)																											p.S2927X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8780A	8						.						32.0	31.0	31.0					8																	110488759		1799	4054	5853	110557935	SO:0001587	stop_gained	93035	exon52			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8780C>A	8.37:g.110488759C>A	ENSP00000367655:p.Ser2927*		110557935	NM_177531	Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	50	16.894908	0.99874	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.79	4.91	0.64330	.	0.142680	0.47852	D	0.000218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7584	0.69588	0.0:0.8547:0.1453:0.0	.	.	.	.	X	2927	.	ENSP00000367655:S2927X	S	+	2	0	PKHD1L1	110557935	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	3.401000	0.52601	1.436000	0.47453	0.585000	0.79938	TCA		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110504129	110504129	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110504129G>A	ENST00000378402.5	+	62	10246	c.10142G>A	c.(10141-10143)cGa>cAa	p.R3381Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3381					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R3383Q(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGCCAACCGAGTCCGAGGG	0.388										HNSCC(38;0.096)																											p.R3381Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10142A	8						.						43.0	44.0	44.0					8																	110504129		1815	4069	5884	110573305	SO:0001583	missense	93035	exon62			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10142G>A	8.37:g.110504129G>A	ENSP00000367655:p.Arg3381Gln		110573305	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803498	0.31869	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85955	-2.05;-1.84	5.61	4.74	0.60224	Pectin lyase fold/virulence factor (1);	0.366778	0.28247	N	0.016051	T	0.76011	0.3928	L	0.43152	1.355	0.09310	N	0.999996	P	0.40066	0.701	B	0.34346	0.18	T	0.62081	-0.6929	10	0.15499	T	0.54	.	10.8335	0.46673	0.0769:0.1319:0.7912:0.0	.	3381	Q86WI1	PKHL1_HUMAN	Q	3381;309	ENSP00000367655:R3381Q;ENSP00000437376:R309Q	ENSP00000367655:R3381Q	R	+	2	0	PKHD1L1	110573305	0.971000	0.33674	1.000000	0.80357	0.850000	0.48378	0.433000	0.21477	0.737000	0.32582	-1.119000	0.02030	CGA		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110520022	110520022	+	Missense_Mutation	SNP	G	G	A	rs199559636		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110520022G>A	ENST00000378402.5	+	69	11229	c.11125G>A	c.(11125-11127)Gga>Aga	p.G3709R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3709					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G3713R(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAATGGGACGGAAACAGCCA	0.433										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17590	0.0		0.001	False		,,,				2504	0.0				p.G3709R												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G11125A	8						.	G	ARG/GLY	0,3762		0,0,1881	128.0	120.0	122.0		11125	5.4	1.0	8		122	3,8233		0,3,4115	yes	missense	PKHD1L1	NM_177531.4	125	0,3,5996	AA,AG,GG		0.0364,0.0,0.025	probably-damaging	3709/4244	110520022	3,11995	1881	4118	5999	110589198	SO:0001583	missense	93035	exon69			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11125G>A	8.37:g.110520022G>A	ENSP00000367655:p.Gly3709Arg		110589198	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.5	4.158731	0.78226	0.0	3.64E-4	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87729	-2.29;-2.07	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	M	0.83603	2.65	0.38916	D	0.957648	D	0.71674	0.998	P	0.53861	0.736	D	0.92266	0.5821	10	0.87932	D	0	.	10.4689	0.44624	0.0889:0.0:0.9111:0.0	.	3709	Q86WI1	PKHL1_HUMAN	R	3709;637	ENSP00000367655:G3709R;ENSP00000437376:G637R	ENSP00000367655:G3709R	G	+	1	0	PKHD1L1	110589198	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.575000	0.74018	2.678000	0.91216	0.655000	0.94253	GGA		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110527439	110527439	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110527439T>C	ENST00000378402.5	+	72	11698	c.11594T>C	c.(11593-11595)tTg>tCg	p.L3865S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3865					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L3869S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTCAACGTTTGGATGTCTAT	0.318										HNSCC(38;0.096)																											p.L3865S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11594C	8						.						103.0	89.0	93.0					8																	110527439		1828	4085	5913	110596615	SO:0001583	missense	93035	exon72			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11594T>C	8.37:g.110527439T>C	ENSP00000367655:p.Leu3865Ser		110596615	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074504	0.76415	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.88431	-2.38;-2.18	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000002	D	0.94069	0.8099	M	0.83012	2.62	0.36424	D	0.864481	D	0.89917	1.0	D	0.76575	0.988	D	0.96432	0.9320	10	0.87932	D	0	.	11.6105	0.51057	0.0:0.0:0.0:1.0	.	3865	Q86WI1	PKHL1_HUMAN	S	3865;793	ENSP00000367655:L3865S;ENSP00000437376:L793S	ENSP00000367655:L3865S	L	+	2	0	PKHD1L1	110596615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.481000	0.66826	2.012000	0.59069	0.477000	0.44152	TTG		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110530568	110530568	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110530568C>A	ENST00000378402.5	+	73	11966	c.11862C>A	c.(11860-11862)acC>acA	p.T3954T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3954					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T3958T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTTATACCTCTCACAATC	0.363										HNSCC(38;0.096)																											p.T3954T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11862A	8						.						130.0	129.0	129.0					8																	110530568		1845	4084	5929	110599744	SO:0001819	synonymous_variant	93035	exon73			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11862C>A	8.37:g.110530568C>A			110599744	NM_177531	Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	CCDS47911.1																																																																																				0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
MTMR9	66036	broad.mit.edu	37	8	11162452	11162452	+	Missense_Mutation	SNP	C	C	T	rs144999294		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11162452C>T	ENST00000221086.3	+	4	993	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	MTMR9_ENST00000526292.1_Missense_Mutation_p.R89W	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	174	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.R174W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TGAAGCTCTTCGGAAGGTAGC	0.453																																					p.R174W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	8						.	C	TRP/ARG	0,4406		0,0,2203	224.0	183.0	197.0		520	3.0	1.0	8	dbSNP_134	197	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MTMR9	NM_015458.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	174/550	11162452	1,13005	2203	4300	6503	11199862	SO:0001583	missense	66036	exon4			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.520C>T	8.37:g.11162452C>T	ENSP00000221086:p.Arg174Trp		11199862	NM_015458	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198304	0.58126	0.0	1.16E-4	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.93133	-3.17;-3.17	4.99	2.98	0.34508	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.373441	0.28182	N	0.016298	D	0.94036	0.8089	M	0.70108	2.13	0.45318	D	0.998311	D	0.59767	0.986	P	0.51453	0.67	D	0.94285	0.7523	10	0.66056	D	0.02	.	14.1335	0.65270	0.27:0.73:0.0:0.0	.	174	Q96QG7	MTMR9_HUMAN	W	174;89	ENSP00000221086:R174W;ENSP00000433239:R89W	ENSP00000221086:R174W	R	+	1	2	MTMR9	11199862	0.124000	0.22315	1.000000	0.80357	0.612000	0.37316	0.602000	0.24134	1.251000	0.43983	0.563000	0.77884	CGG		0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458	
FAM167A	83648	broad.mit.edu	37	8	11282088	11282088	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11282088C>T	ENST00000528897.1	-	3	1058	c.439G>A	c.(439-441)Gac>Aac	p.D147N	FAM167A_ENST00000284486.4_Missense_Mutation_p.D147N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D147N|C8orf12_ENST00000529305.1_Intron|C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	147								p.D147N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TTGTTGATGTCGCCACGCAGG	0.627																																					p.D147N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	8						.						108.0	81.0	90.0					8																	11282088		2203	4300	6503	11319498	SO:0001583	missense	83648	exon3				CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.439G>A	8.37:g.11282088C>T	ENSP00000436655:p.Asp147Asn		11319498	NM_053279	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559895	0.86335	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897	T;T;T	0.32988	1.43;1.43;1.43	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46048	-0.9219	10	0.66056	D	0.02	-6.6204	17.3188	0.87231	0.0:1.0:0.0:0.0	.	147	Q96KS9	F167A_HUMAN	N	147	ENSP00000284486:D147N;ENSP00000432232:D147N;ENSP00000436655:D147N	ENSP00000284486:D147N	D	-	1	0	FAM167A	11319498	1.000000	0.71417	0.957000	0.39632	0.412000	0.31113	7.124000	0.77185	2.558000	0.86282	0.555000	0.69702	GAC		0.627	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1		
SYBU	55638	broad.mit.edu	37	8	110655129	110655129	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:110655129C>A	ENST00000422135.1	-	3	572	c.57G>T	c.(55-57)gaG>gaT	p.E19D	SYBU_ENST00000533171.1_Missense_Mutation_p.E19D|SYBU_ENST00000528647.1_Missense_Mutation_p.E18D|SYBU_ENST00000533895.1_Missense_Mutation_p.E18D|SYBU_ENST00000424158.2_Missense_Mutation_p.E24D|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.E19D|SYBU_ENST00000433638.1_Missense_Mutation_p.E19D|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.E19D|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000399066.3_Missense_Mutation_p.E16D|SYBU_ENST00000446070.2_Missense_Mutation_p.E18D|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000408908.2_Missense_Mutation_p.E19D|SYBU_ENST00000419099.1_Missense_Mutation_p.E18D|SYBU_ENST00000408889.3_Intron	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	19	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E16D(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TTCGAGAAATCTCCTTGTCAT	0.483																																					p.E16D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G48T	8						.						101.0	104.0	103.0					8																	110655129		1910	4139	6049	110724305	SO:0001583	missense	55638	exon1			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.57G>T	8.37:g.110655129C>A	ENSP00000407118:p.Glu19Asp		110724305	NM_001099756	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053491	0.75960	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578;ENST00000527600	.	.	.	5.91	5.91	0.95273	.	0.209202	0.50627	D	0.000110	T	0.65575	0.2704	M	0.62723	1.935	0.80722	D	1	P;P;P	0.52316	0.952;0.952;0.952	P;P;P	0.49085	0.6;0.6;0.6	T	0.68473	-0.5399	9	0.72032	D	0.01	-30.7372	17.7884	0.88545	0.0:1.0:0.0:0.0	.	18;19;16	Q9NX95-3;Q9NX95;Q9NX95-4	.;SYBU_HUMAN;.	D	18;24;16;18;19;18;19;18;19;19;19;19;18;18;19;19;18;19;19;19;19	.	ENSP00000276646:E19D	E	-	3	2	SYBU	110724305	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.412000	0.52679	2.804000	0.96469	0.462000	0.41574	GAG		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
CSMD3	114788	broad.mit.edu	37	8	113249459	113249459	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:113249459G>A	ENST00000297405.5	-	67	10831	c.10587C>T	c.(10585-10587)aaC>aaT	p.N3529N	CSMD3_ENST00000455883.2_Silent_p.N3360N|CSMD3_ENST00000352409.3_Silent_p.N3459N|CSMD3_ENST00000343508.3_Silent_p.N3489N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3529						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3529N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAGTGTTGCGTTAACTCTCC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.N3529N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10587T	8						.						215.0	197.0	203.0					8																	113249459		2203	4300	6503	113318635	SO:0001819	synonymous_variant	114788	exon67			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10587C>T	8.37:g.113249459G>A			113318635	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113293502	113293502	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:113293502C>A	ENST00000297405.5	-	59	9653	c.9409G>T	c.(9409-9411)Gtc>Ttc	p.V3137F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V2968F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3067F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3097F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3137	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V3137F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATAAATGACTGAACTAGAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.V3137F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9409T	8						.						128.0	112.0	118.0					8																	113293502		2203	4300	6503	113362678	SO:0001583	missense	114788	exon59			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9409G>T	8.37:g.113293502C>A	ENSP00000297405:p.Val3137Phe		113362678	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249846	0.80024	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.51	4.58	0.56647	Complement control module (2);Sushi/SCR/CCP (3);	0.338199	0.27327	N	0.019879	D	0.85957	0.5818	M	0.92219	3.285	0.54753	D	0.999985	D;P;B	0.55800	0.973;0.886;0.123	D;P;B	0.63957	0.92;0.772;0.089	D	0.88158	0.2855	10	0.56958	D	0.05	.	13.1108	0.59273	0.0:0.9162:0.0:0.0838	.	2968;3137;3097	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	3097;3137;2407;2968;3067	ENSP00000345799:V3097F;ENSP00000297405:V3137F;ENSP00000341558:V2407F;ENSP00000412263:V2968F;ENSP00000343124:V3067F	ENSP00000297405:V3137F	V	-	1	0	CSMD3	113362678	0.999000	0.42202	0.999000	0.59377	0.631000	0.37964	3.980000	0.56895	1.189000	0.43028	0.650000	0.86243	GTC		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113348978	113348978	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:113348978C>A	ENST00000297405.5	-	44	7166	c.6922G>T	c.(6922-6924)Gat>Tat	p.D2308Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2204Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2238Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2268Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2308	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2308Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAAACAATCTTGAAAGTTT	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.D2308Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6922T	8						.						102.0	97.0	99.0					8																	113348978		2203	4300	6503	113418154	SO:0001583	missense	114788	exon44			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6922G>T	8.37:g.113348978C>A	ENSP00000297405:p.Asp2308Tyr		113418154	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795207	0.90453	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.76719	-0.2856	10	0.62326	D	0.03	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2204;2308;2268	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	2268;2308;1578;2204;2238	ENSP00000345799:D2268Y;ENSP00000297405:D2308Y;ENSP00000341558:D1578Y;ENSP00000412263:D2204Y;ENSP00000343124:D2238Y	ENSP00000297405:D2308Y	D	-	1	0	CSMD3	113418154	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GAT		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113651100	113651100	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:113651100A>G	ENST00000297405.5	-	21	3595	c.3351T>C	c.(3349-3351)caT>caC	p.H1117H	CSMD3_ENST00000455883.2_Silent_p.H1013H|CSMD3_ENST00000352409.3_Silent_p.H1117H|CSMD3_ENST00000343508.3_Silent_p.H1077H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1117	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1117H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTAGTCATGATGGTCTTCCA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.H1117H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3351C	8						.						107.0	100.0	103.0					8																	113651100		2203	4300	6503	113720276	SO:0001819	synonymous_variant	114788	exon21			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3351T>C	8.37:g.113651100A>G			113720276	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
CSMD3	114788	broad.mit.edu	37	8	113933929	113933929	+	Silent	SNP	G	G	A	rs377399711		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:113933929G>A	ENST00000297405.5	-	10	1804	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	CSMD3_ENST00000455883.2_Silent_p.G416G|CSMD3_ENST00000352409.3_Silent_p.G520G|CSMD3_ENST00000343508.3_Silent_p.G480G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	520	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G520G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCTCTTTGCGCCCTGTAGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.G520G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1560T	8						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	113.0	107.0	109.0		1248,1560,1440	-11.0	0.4	8		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	416/3539,520/3708,480/3668	113933929	1,13005	2203	4300	6503	114003105	SO:0001819	synonymous_variant	114788	exon10			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1560C>T	8.37:g.113933929G>A			114003105	NM_198123	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
FDFT1	2222	broad.mit.edu	37	8	11679323	11679323	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11679323G>T	ENST00000220584.4	+	4	668	c.446G>T	c.(445-447)aGa>aTa	p.R149I	FDFT1_ENST00000530664.1_Missense_Mutation_p.R85I|FDFT1_ENST00000528643.1_Missense_Mutation_p.R64I|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Missense_Mutation_p.R38I|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528812.1_Missense_Mutation_p.R85I|FDFT1_ENST00000525900.1_Missense_Mutation_p.R142I|FDFT1_ENST00000525777.1_Missense_Mutation_p.R64I	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	149					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)	p.R149I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATTTGCCGGAGAATGGGCATT	0.423																																					p.R149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446T	8						.						211.0	196.0	201.0					8																	11679323		2203	4300	6503	11716732	SO:0001583	missense	2222	exon4			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.446G>T	8.37:g.11679323G>T	ENSP00000220584:p.Arg149Ile		11716732	NM_004462	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214121	0.58452	.	.	ENSG00000079459	ENST00000538689;ENST00000530337;ENST00000220584;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.17	0.299	0.15771	Terpenoid synthase (2);	0.534882	0.20319	N	0.094680	T	0.75989	0.3925	M	0.82132	2.575	0.52501	D	0.999953	D;P;P	0.60160	0.987;0.825;0.825	P;B;P	0.53185	0.72;0.402;0.506	T	0.75442	-0.3316	10	0.87932	D	0	-15.2207	8.8002	0.34905	0.5841:0.0:0.4159:0.0	.	206;142;149	B4DND3;E9PNM1;P37268	.;.;FDFT_HUMAN	I	38;149;149;142;85;85;64;64	ENSP00000444248:R38I;ENSP00000431852:R149I;ENSP00000220584:R149I;ENSP00000434714:R142I;ENSP00000431749:R85I;ENSP00000432331:R85I;ENSP00000431649:R64I;ENSP00000436069:R64I	ENSP00000220584:R149I	R	+	2	0	FDFT1	11716732	1.000000	0.71417	0.123000	0.21794	0.610000	0.37248	2.038000	0.41184	-0.084000	0.12595	-0.367000	0.07326	AGA		0.423	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2		
CTSB	1508	broad.mit.edu	37	8	11702690	11702690	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11702690C>T	ENST00000353047.6	-	10	1217	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CTSB_ENST00000453527.2_Missense_Mutation_p.E322K|CTSB_ENST00000345125.3_Missense_Mutation_p.E322K|CTSB_ENST00000531089.1_Missense_Mutation_p.E322K|CTSB_ENST00000434271.1_Missense_Mutation_p.E322K|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Missense_Mutation_p.E322K|CTSB_ENST00000530640.2_Missense_Mutation_p.E322K|CTSB_ENST00000533455.1_Missense_Mutation_p.E322K|CTSB_ENST00000415599.2_3'UTR	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	322					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.E322K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACTTCTGATTCGATTCCACAG	0.488																																					p.E322K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	8						.						88.0	79.0	82.0					8																	11702690		2203	4300	6503	11740099	SO:0001583	missense	1508	exon11			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.964G>A	8.37:g.11702690C>T	ENSP00000345672:p.Glu322Lys		11740099	NM_147781	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667128	0.96745	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	6.07	6.07	0.98685	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97523	1.0074	10	0.87932	D	0	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	259;322;322;259	B3KUJ8;A8K2H4;P07858;F5H2P9	.;.;CATB_HUMAN;.	K	322;259;322;322;322;322;322;322;322;228	ENSP00000415889:E322K;ENSP00000345672:E322K;ENSP00000435105:E322K;ENSP00000433215:E322K;ENSP00000409917:E322K;ENSP00000342070:E322K;ENSP00000432244:E322K;ENSP00000434217:E322K	ENSP00000342070:E322K	E	-	1	0	CTSB	11740099	1.000000	0.71417	0.320000	0.25306	0.982000	0.71751	7.550000	0.82173	2.884000	0.98904	0.655000	0.94253	GAA		0.488	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
CTSB	1508	broad.mit.edu	37	8	11705293	11705293	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11705293C>T	ENST00000353047.6	-	7	824	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	CTSB_ENST00000453527.2_Missense_Mutation_p.V191I|CTSB_ENST00000345125.3_Missense_Mutation_p.V191I|CTSB_ENST00000531089.1_Missense_Mutation_p.V191I|CTSB_ENST00000434271.1_Missense_Mutation_p.V191I|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Missense_Mutation_p.V191I|CTSB_ENST00000530640.2_Missense_Mutation_p.V191I|CTSB_ENST00000533455.1_Missense_Mutation_p.V191I|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000415599.2_3'UTR	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	191					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.V191I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GAGCCGTTGACGTGGTGCTCA	0.622																																					p.V191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	8						.						77.0	77.0	77.0					8																	11705293		2203	4300	6503	11742702	SO:0001583	missense	1508	exon8			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.571G>A	8.37:g.11705293C>T	ENSP00000345672:p.Val191Ile		11742702	NM_147781	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428761	0.83667	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.03	5.03	0.67393	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87585	0.6214	L	0.50333	1.59	0.80722	D	1	D;B;B;B;P	0.57899	0.981;0.118;0.054;0.051;0.571	P;B;B;B;B	0.54174	0.744;0.046;0.025;0.035;0.113	D	0.87913	0.2698	10	0.48119	T	0.1	.	17.3323	0.87268	0.0:1.0:0.0:0.0	.	128;191;97;191;128	B3KUJ8;A8K2H4;B4DMY4;P07858;F5H2P9	.;.;.;CATB_HUMAN;.	I	191;128;191;191;191;191;191;191;191;97	ENSP00000415889:V191I;ENSP00000345672:V191I;ENSP00000435105:V191I;ENSP00000433215:V191I;ENSP00000409917:V191I;ENSP00000342070:V191I;ENSP00000432244:V191I;ENSP00000434217:V191I	ENSP00000342070:V191I	V	-	1	0	CTSB	11742702	1.000000	0.71417	0.991000	0.47740	0.962000	0.63368	3.155000	0.50700	2.304000	0.77564	0.561000	0.74099	GTC		0.622	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
TRPS1	7227	broad.mit.edu	37	8	116632271	116632271	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:116632271C>A	ENST00000220888.5	-	2	174	c.15G>T	c.(13-15)aaG>aaT	p.K5N	TRPS1_ENST00000520276.1_Missense_Mutation_p.K9N|TRPS1_ENST00000395715.3_Missense_Mutation_p.K18N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K5N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K5N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	5					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K5N(1)|p.K5K(1)|p.K18K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGGGGGTTCTTTTTCCGGA	0.413									Langer-Giedion syndrome																												p.K18N												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|large_intestine(1)	c.G54T	8						.						57.0	54.0	55.0					8																	116632271		1836	4086	5922	116701446	SO:0001583	missense	7227	exon3	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.15G>T	8.37:g.116632271C>A	ENSP00000220888:p.Lys5Asn		116701446	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.106276	0.77096	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.99287	-5.39;-5.35;-5.69;-5.36;0.43	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.98912	0.9631	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.989;0.981;0.999	D;D;D	0.80764	0.985;0.966;0.994	D	0.99939	1.1387	10	0.87932	D	0	0.0788	20.0966	0.97849	0.0:1.0:0.0:0.0	.	9;5;18	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	18;5;5;9;5;18;18;18	ENSP00000379065:K18N;ENSP00000220888:K5N;ENSP00000428910:K5N;ENSP00000428680:K9N;ENSP00000429174:K5N	ENSP00000220888:K5N	K	-	3	2	TRPS1	116701446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.272000	0.78516	2.751000	0.94390	0.650000	0.86243	AAG		0.413	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
UTP23	84294	broad.mit.edu	37	8	117783832	117783832	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:117783832C>A	ENST00000309822.2	+	3	602	c.501C>A	c.(499-501)gtC>gtA	p.V167V	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	167					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V167V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						GTCAGCTTGTCTCAGTGCATG	0.383																																					p.V167V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	8						.						91.0	89.0	90.0					8																	117783832		2203	4300	6503	117853013	SO:0001819	synonymous_variant	84294	exon3				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.501C>A	8.37:g.117783832C>A			117853013	NM_032334	B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	CCDS6320.1																																																																																				0.383	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334	
RAD21	5885	broad.mit.edu	37	8	117868913	117868913	+	Silent	SNP	G	G	A	rs34653007	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:117868913G>A	ENST00000297338.2	-	7	1073	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	262					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D262D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CATCCATATCGTCATGTGCAG	0.433													G|||	5	0.000998403	0.003	0.0014	5008	,	,		16204	0.0		0.0	False		,,,				2504	0.0				p.D262D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786T	8						.	G		42,4364	45.3+/-79.5	0,42,2161	110.0	112.0	111.0		786	3.1	1.0	8	dbSNP_126	111	0,8600		0,0,4300	no	coding-synonymous	RAD21	NM_006265.2		0,42,6461	AA,AG,GG		0.0,0.9532,0.3229		262/632	117868913	42,12964	2203	4300	6503	117938094	SO:0001819	synonymous_variant	5885	exon7			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.786C>T	8.37:g.117868913G>A			117938094	NM_006265	A8K0E0|Q15001|Q99568	Silent	SNP	ENST00000297338.2	37	CCDS6321.1																																																																																				0.433	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
SLC30A8	169026	broad.mit.edu	37	8	118183386	118183386	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:118183386C>A	ENST00000456015.2	+	7	943	c.943C>A	c.(943-945)Ctc>Atc	p.L315I	SLC30A8_ENST00000427715.2_Missense_Mutation_p.L266I|SLC30A8_ENST00000519688.1_Missense_Mutation_p.L266I|SLC30A8_ENST00000521243.1_Missense_Mutation_p.L266I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	315					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.L315I(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCAAGTAATTCTCTCAGCTCA	0.423																																					p.L315I	Ovarian(162;1202 1922 6011 16223 52092)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943A	8						.						190.0	175.0	180.0					8																	118183386		2203	4300	6503	118252567	SO:0001583	missense	169026	exon7				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.943C>A	8.37:g.118183386C>A	ENSP00000415011:p.Leu315Ile		118252567	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421794	0.83559	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.97	4.06	0.47325	.	0.067430	0.64402	N	0.000010	T	0.64897	0.2640	M	0.78344	2.41	0.58432	D	0.999997	D	0.56287	0.975	P	0.61722	0.893	T	0.68059	-0.5509	10	0.54805	T	0.06	-9.4419	12.481	0.55842	0.1686:0.8314:0.0:0.0	.	315	Q8IWU4	ZNT8_HUMAN	I	266;266;266;315	ENSP00000428545:L266I;ENSP00000407505:L266I;ENSP00000431069:L266I;ENSP00000415011:L315I	ENSP00000407505:L266I	L	+	1	0	SLC30A8	118252567	0.988000	0.35896	1.000000	0.80357	0.978000	0.69477	1.404000	0.34623	1.162000	0.42619	0.655000	0.94253	CTC		0.423	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
DEFB135	613209	broad.mit.edu	37	8	11841933	11841933	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11841933G>A	ENST00000382208.2	+	2	68	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R23K(1)		endometrium(1)|large_intestine(2)|prostate(1)	4						TTGGCAGGTAGAAGTGGACCC	0.383																																					p.R23K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	8						.						78.0	76.0	77.0					8																	11841933		1914	4124	6038	11879342	SO:0001583	missense	613209	exon2			DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.68G>A	8.37:g.11841933G>A	ENSP00000371643:p.Arg23Lys		11879342	NM_001033017	Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	CCDS43710.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907611	0.17833	.	.	ENSG00000205883	ENST00000382208	.	.	.	3.34	0.458	0.16670	.	0.493260	0.15283	N	0.270554	T	0.23492	0.0568	.	.	.	0.09310	N	0.999994	B	0.17038	0.02	B	0.11329	0.006	T	0.13335	-1.0513	8	0.32370	T	0.25	-6.4888	3.4358	0.07445	0.251:0.2174:0.5316:0.0	.	23	Q30KP9	DB135_HUMAN	K	23	.	ENSP00000371643:R23K	R	+	2	0	DEFB135	11879342	0.988000	0.35896	0.410000	0.26471	0.004000	0.04260	0.158000	0.16422	0.072000	0.16694	0.561000	0.74099	AGA		0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017	
DEFB134	613211	broad.mit.edu	37	8	11853730	11853730	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11853730G>T	ENST00000526438.1	-	1	91	c.31C>A	c.(31-33)Ctt>Att	p.L11I	DEFB134_ENST00000382205.4_Missense_Mutation_p.L11I	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	11					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.L11I(1)		kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		CAAAGGAAAAGAAAGACAAAC	0.478																																					p.L11I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31A	8						.						142.0	142.0	142.0					8																	11853730		2203	4300	6503	11891139	SO:0001583	missense	613211	exon1			AY621331, DQ012024	CCDS34847.1	8p23.1	2010-04-15			ENSG00000205882	ENSG00000205882		"""Defensins, beta"""	32399	protein-coding gene	gene with protein product						16033865	Standard	NM_001033019		Approved		uc011kxn.2	Q4QY38	OTTHUMG00000158718	ENST00000526438.1:c.31C>A	8.37:g.11853730G>T	ENSP00000435010:p.Leu11Ile		11891139	NM_001033019	A1L4A4	Missense_Mutation	SNP	ENST00000526438.1	37	CCDS34847.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331280	0.24167	.	.	ENSG00000205882	ENST00000526438;ENST00000382205	.	.	.	3.15	2.26	0.28386	.	0.000000	0.29572	N	0.011777	T	0.20780	0.0500	.	.	.	0.09310	N	1	P	0.52842	0.956	B	0.42386	0.386	T	0.08868	-1.0701	8	0.37606	T	0.19	-11.4769	6.0915	0.19997	0.1427:0.0:0.8573:0.0	.	11	Q4QY38	DB134_HUMAN	I	11	.	ENSP00000371640:L11I	L	-	1	0	DEFB134	11891139	0.020000	0.18652	0.023000	0.16930	0.026000	0.11368	0.432000	0.21461	0.892000	0.36259	0.655000	0.94253	CTT		0.478	DEFB134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351887.2	NM_001033019	
SLC30A8	169026	broad.mit.edu	37	8	118184848	118184848	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:118184848A>C	ENST00000456015.2	+	8	1038	c.1038A>C	c.(1036-1038)tcA>tcC	p.S346S	SLC30A8_ENST00000427715.2_Silent_p.S297S|SLC30A8_ENST00000519688.1_Silent_p.S297S|SLC30A8_ENST00000521243.1_Silent_p.S297S	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	346					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S346S(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGATGCACTCACTCACCATTC	0.498																																					p.S346S	Ovarian(162;1202 1922 6011 16223 52092)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1038C	8						.						149.0	131.0	137.0					8																	118184848		2203	4300	6503	118254029	SO:0001819	synonymous_variant	169026	exon8				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1038A>C	8.37:g.118184848A>C			118254029	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	CCDS6322.1																																																																																				0.498	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
USP17L2	377630	broad.mit.edu	37	8	11995777	11995777	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:11995777G>T	ENST00000333796.3	-	1	809	c.493C>A	c.(493-495)Ctc>Atc	p.L165I	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	165	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L165I(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTGAACATGAGAAATTCATGG	0.522																																					p.L165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493A	8						.						2.0	2.0	2.0					8																	11995777		647	1526	2173	12033186	SO:0001583	missense	377630	exon1			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.493C>A	8.37:g.11995777G>T	ENSP00000333329:p.Leu165Ile		12033186	NM_201402		Missense_Mutation	SNP	ENST00000333796.3	37	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078962	0.36662	.	.	ENSG00000223443	ENST00000333796	T	0.38887	1.11	0.745	-0.335	0.12662	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000026	T	0.56124	0.1964	M	0.80332	2.49	0.29301	N	0.868703	D	0.71674	0.998	D	0.77557	0.99	T	0.51896	-0.8647	10	0.87932	D	0	.	3.3559	0.07169	0.3198:0.0:0.6802:0.0	.	165	Q6R6M4	U17L2_HUMAN	I	165	ENSP00000333329:L165I	ENSP00000333329:L165I	L	-	1	0	USP17L2	12033186	1.000000	0.71417	0.326000	0.25389	0.112000	0.19704	1.659000	0.37387	-0.078000	0.12730	-0.365000	0.07479	CTC		0.522	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
COLEC10	10584	broad.mit.edu	37	8	120118131	120118131	+	Missense_Mutation	SNP	C	C	T	rs115273924	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120118131C>T	ENST00000332843.2	+	6	576	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R179W(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTGCAGGATTCGGGGTGGAAT	0.502													C|||	15	0.00299521	0.0068	0.0	5008	,	,		19133	0.0		0.0	False		,,,				2504	0.0061				p.R179W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535T	8						.	C	TRP/ARG	14,4392	21.2+/-45.6	0,14,2189	104.0	82.0	89.0		535	5.4	1.0	8	dbSNP_132	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COLEC10	NM_006438.3	101	0,15,6488	TT,TC,CC		0.0116,0.3177,0.1153	probably-damaging	179/278	120118131	15,12991	2203	4300	6503	120187312	SO:0001583	missense	10584	exon6			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.535C>T	8.37:g.120118131C>T	ENSP00000332723:p.Arg179Trp		120187312	NM_006438	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.52	3.842792	0.71488	0.003177	1.16E-4	ENSG00000184374	ENST00000332843	T	0.18174	2.23	5.39	5.39	0.77823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.89968	3.075	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.52638	-0.8549	10	0.48119	T	0.1	-13.3309	13.5562	0.61761	0.2585:0.7415:0.0:0.0	.	179	Q9Y6Z7	COL10_HUMAN	W	179	ENSP00000332723:R179W	ENSP00000332723:R179W	R	+	1	2	COLEC10	120187312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.341000	0.52151	2.692000	0.91855	0.555000	0.69702	CGG		0.502	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1		
NOV	4856	broad.mit.edu	37	8	120435102	120435102	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120435102G>T	ENST00000259526.3	+	5	1031	c.804G>T	c.(802-804)aaG>aaT	p.K268N	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.K268N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TCCGCACCAAGAAGTCACTCA	0.473																																					p.K268N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G804T	8						.						75.0	76.0	76.0					8																	120435102		2203	4300	6503	120504283	SO:0001583	missense	4856	exon5			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.804G>T	8.37:g.120435102G>T	ENSP00000259526:p.Lys268Asn		120504283	NM_002514		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	9.395	1.076412	0.20227	.	.	ENSG00000136999	ENST00000259526	D	0.90004	-2.6	5.91	0.697	0.18081	Cystine knot (1);Cystine knot, C-terminal (1);	0.669377	0.16696	N	0.203337	T	0.81908	0.4922	L	0.57536	1.79	0.34344	D	0.689136	B	0.17852	0.024	B	0.16722	0.016	T	0.70733	-0.4791	10	0.28530	T	0.3	-1.8576	1.7317	0.02933	0.2686:0.1189:0.4691:0.1433	.	268	P48745	NOV_HUMAN	N	268	ENSP00000259526:K268N	ENSP00000259526:K268N	K	+	3	2	NOV	120504283	0.314000	0.24563	0.455000	0.27031	0.521000	0.34408	0.232000	0.17891	0.046000	0.15833	-0.142000	0.14014	AAG		0.473	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514	
ENPP2	5168	broad.mit.edu	37	8	120606098	120606098	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120606098C>A	ENST00000075322.6	-	12	1033	c.975G>T	c.(973-975)atG>atT	p.M325I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M325I|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000427067.2_Missense_Mutation_p.M321I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M377I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	325					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M377I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGGATTTGTCATCTAGGAAA	0.413																																					p.M325I	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G975T	8						.						216.0	203.0	207.0					8																	120606098		2203	4300	6503	120675279	SO:0001583	missense	5168	exon12			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.975G>T	8.37:g.120606098C>A	ENSP00000075322:p.Met325Ile		120675279	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284447	0.59867	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.5	5.5	0.81552	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.118865	0.64402	D	0.000010	T	0.67040	0.2851	L	0.27944	0.81	0.54753	D	0.999985	B;B;B	0.21821	0.024;0.023;0.061	B;B;B	0.23574	0.022;0.016;0.047	T	0.64356	-0.6427	10	0.72032	D	0.01	.	18.7617	0.91855	0.0:1.0:0.0:0.0	.	325;325;377	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	I	377;321;325;325	ENSP00000259486:M377I;ENSP00000403315:M321I;ENSP00000428291:M325I;ENSP00000075322:M325I	ENSP00000075322:M325I	M	-	3	0	ENPP2	120675279	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.709000	0.61867	2.744000	0.94065	0.655000	0.94253	ATG		0.413	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
ENPP2	5168	broad.mit.edu	37	8	120629776	120629776	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120629776G>T	ENST00000075322.6	-	6	565	c.507C>A	c.(505-507)ttC>ttA	p.F169L	ENPP2_ENST00000522826.1_Missense_Mutation_p.F169L|ENPP2_ENST00000427067.2_Missense_Mutation_p.F165L|ENPP2_ENST00000259486.6_Missense_Mutation_p.F169L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	169					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.F169L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCCACGGAGAAGATGATTA	0.368																																					p.F169L	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C507A	8						.						66.0	63.0	64.0					8																	120629776		2203	4300	6503	120698957	SO:0001583	missense	5168	exon6			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.507C>A	8.37:g.120629776G>T	ENSP00000075322:p.Phe169Leu		120698957	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778399	0.49786	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.95	3.11	0.35812	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.102545	0.64402	D	0.000002	T	0.44561	0.1299	N	0.10664	0.02	0.46901	D	0.999244	B;B;B	0.18310	0.001;0.027;0.002	B;B;B	0.17979	0.007;0.02;0.007	T	0.26643	-1.0097	10	0.54805	T	0.06	.	9.8029	0.40775	0.2975:0.0:0.7025:0.0	.	169;169;169	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	L	169;165;169;169;151	ENSP00000259486:F169L;ENSP00000403315:F165L;ENSP00000428291:F169L;ENSP00000075322:F169L;ENSP00000428304:F151L	ENSP00000075322:F169L	F	-	3	2	ENPP2	120698957	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.489000	0.35562	0.363000	0.24346	0.650000	0.86243	TTC		0.368	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
ENPP2	5168	broad.mit.edu	37	8	120650665	120650665	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120650665C>T	ENST00000075322.6	-	2	194	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	ENPP2_ENST00000522826.1_Splice_Site_p.V46M|ENPP2_ENST00000427067.2_Splice_Site_p.V42M|ENPP2_ENST00000259486.6_Splice_Site_p.V46M	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	46					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V46M(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGACACTTACCTGTAGGAGGA	0.333																																					p.V46M	Melanoma(20;305 879 2501 4818 31020)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	8						.						112.0	111.0	111.0					8																	120650665		2203	4299	6502	120719846	SO:0001630	splice_region_variant	5168	exon2			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.136+1G>A	8.37:g.120650665C>T			120719846	NM_001130863	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208605	0.79240	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74315	-0.74;-0.71;-0.72;-0.71;-0.83	6.17	6.17	0.99709	.	0.525823	0.20502	N	0.091076	T	0.77955	0.4208	L	0.51422	1.61	0.53688	D	0.999979	B;P;P	0.39003	0.232;0.472;0.654	B;B;P	0.46172	0.309;0.224;0.506	T	0.72590	-0.4247	9	.	.	.	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	46;46;46	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	M	46;42;46;46;46	ENSP00000259486:V46M;ENSP00000403315:V42M;ENSP00000428291:V46M;ENSP00000075322:V46M;ENSP00000428304:V46M	.	V	-	1	0	ENPP2	120719846	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	5.167000	0.64972	2.941000	0.99782	0.655000	0.94253	GTG		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		Missense_Mutation
TAF2	6873	broad.mit.edu	37	8	120793389	120793389	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:120793389C>A	ENST00000378164.2	-	17	2455	c.2157G>T	c.(2155-2157)atG>atT	p.M719I		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	719					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M719I(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGAGTGACTTCATGGCTGGTG	0.343																																					p.M719I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2157T	8						.						78.0	82.0	81.0					8																	120793389		2203	4300	6503	120862570	SO:0001583	missense	6873	exon17			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2157G>T	8.37:g.120793389C>A	ENSP00000367406:p.Met719Ile		120862570	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747527	0.69533	.	.	ENSG00000064313	ENST00000378164	T	0.28454	1.61	5.41	4.54	0.55810	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39226	0.1070	M	0.71581	2.175	0.80722	D	1	P	0.51351	0.944	P	0.45138	0.471	T	0.45702	-0.9243	10	0.72032	D	0.01	-15.1813	14.4386	0.67301	0.0:0.9291:0.0:0.0709	.	719	Q6P1X5	TAF2_HUMAN	I	719	ENSP00000367406:M719I	ENSP00000367406:M719I	M	-	3	0	TAF2	120862570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	1.438000	0.47492	0.650000	0.86243	ATG		0.343	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
COL14A1	7373	broad.mit.edu	37	8	121211775	121211775	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121211775C>T	ENST00000297848.3	+	8	1117	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	COL14A1_ENST00000309791.4_Missense_Mutation_p.R283C|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.R283C	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R283C(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGAAATCTTCGTGAGTCTGG	0.388																																					p.R283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	8						.						160.0	139.0	146.0					8																	121211775		2203	4300	6503	121280956	SO:0001583	missense	7373	exon8				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.847C>T	8.37:g.121211775C>T	ENSP00000297848:p.Arg283Cys		121280956	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365990	0.61513	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000434620	T;T;T;T	0.81330	-1.48;-1.48;-1.48;0.24	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.110124	0.64402	D	0.000018	D	0.89739	0.6802	M	0.87547	2.89	0.50039	D	0.999847	D	0.89917	1.0	D	0.65773	0.938	D	0.90716	0.4631	10	0.87932	D	0	.	13.2695	0.60153	0.2711:0.7289:0.0:0.0	.	283	Q05707	COEA1_HUMAN	C	283;283;283;96	ENSP00000443974:R283C;ENSP00000311809:R283C;ENSP00000297848:R283C;ENSP00000409461:R96C	ENSP00000297848:R283C	R	+	1	0	COL14A1	121280956	0.371000	0.25056	1.000000	0.80357	0.819000	0.46315	1.029000	0.30140	2.894000	0.99253	0.655000	0.94253	CGT		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121216031	121216031	+	Missense_Mutation	SNP	G	G	A	rs367633536		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121216031G>A	ENST00000297848.3	+	9	1231	c.961G>A	c.(961-963)Gat>Aat	p.D321N	COL14A1_ENST00000309791.4_Missense_Mutation_p.D321N|COL14A1_ENST00000247781.3_Missense_Mutation_p.D226N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.D321N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.D321N(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCCGAATTCGATCTGATGCA	0.473																																					p.D321N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961A	8						.	G	ASN/ASP	0,4406		0,0,2203	135.0	115.0	122.0		961	5.2	1.0	8		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	321/1797	121216031	1,13005	2203	4300	6503	121285212	SO:0001583	missense	7373	exon9				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.961G>A	8.37:g.121216031G>A	ENSP00000297848:p.Asp321Asn		121285212	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.11|13.11	2.139838|2.139838	0.37728|0.37728	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T;D|.	0.83837|.	-1.28;-1.28;-1.28;0.5;-1.77|.	5.21|5.21	5.21|5.21	0.72293|0.72293	von Willebrand factor, type A (3);|.	0.157791|.	0.56097|.	D|.	0.000038|.	T|T	0.32763|0.32763	0.0840|0.0840	N|N	0.17082|0.17082	0.46|0.46	0.34557|0.34557	D|D	0.711914|0.711914	B|.	0.18610|.	0.029|.	B|.	0.12837|.	0.008|.	T|T	0.39482|0.39482	-0.9612|-0.9612	10|5	0.15952|.	T|.	0.53|.	.|.	6.2322|6.2322	0.20742|0.20742	0.2138:0.0:0.7862:0.0|0.2138:0.0:0.7862:0.0	.|.	321|.	Q05707|.	COEA1_HUMAN|.	N|Q	321;321;321;226;134|77	ENSP00000443974:D321N;ENSP00000311809:D321N;ENSP00000297848:D321N;ENSP00000247781:D226N;ENSP00000409461:D134N|.	ENSP00000247781:D226N|.	D|R	+|+	1|2	0|0	COL14A1|COL14A1	121285212|121285212	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.616000|0.616000	0.37450|0.37450	7.427000|7.427000	0.80284|0.80284	2.708000|2.708000	0.92522|0.92522	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121216100	121216100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121216100G>T	ENST00000297848.3	+	9	1300	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.E344*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.E249*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Nonsense_Mutation_p.E344*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.E344*(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACAGGACAGAGAAATTAAAGG	0.423																																					p.E344X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1030T	8						.						78.0	71.0	73.0					8																	121216100		2203	4300	6503	121285281	SO:0001587	stop_gained	7373	exon9				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1030G>T	8.37:g.121216100G>T	ENSP00000297848:p.Glu344*		121285281	NM_021110		Nonsense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.612086|2.612086	0.46631|0.46631	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	.|T	.|0.50277	.|0.75	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.242355|.	0.40818|.	N|.	0.001008|.	.|T	.|0.63546	.|0.2520	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60954	.|-0.7160	.|5	0.07325|0.39692	T|T	0.83|0.17	.|.	18.7849|18.7849	0.91951|0.91951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	344;344;344;249;157|100	.|ENSP00000429123:R100I	ENSP00000247781:E249X|ENSP00000429123:R100I	E|R	+|+	1|2	0|0	COL14A1|COL14A1	121285281|121285281	1.000000|1.000000	0.71417|0.71417	0.783000|0.783000	0.31826|0.31826	0.120000|0.120000	0.20174|0.20174	3.717000|3.717000	0.54911|0.54911	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121282317	121282317	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121282317A>G	ENST00000297848.3	+	26	3387	c.3117A>G	c.(3115-3117)ggA>ggG	p.G1039G	COL14A1_ENST00000309791.4_Silent_p.G1039G|COL14A1_ENST00000247781.3_Silent_p.G944G|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G1039G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGTGGATGGATCCTGGAGCA	0.413																																					p.G1039G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3117G	8						.						137.0	124.0	128.0					8																	121282317		2203	4299	6502	121351498	SO:0001819	synonymous_variant	7373	exon26				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3117A>G	8.37:g.121282317A>G			121351498	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				0.413	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121290381	121290381	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121290381G>T	ENST00000297848.3	+	27	3515	c.3245G>T	c.(3244-3246)aGa>aTa	p.R1082I	COL14A1_ENST00000309791.4_Missense_Mutation_p.R1082I|COL14A1_ENST00000247781.3_Missense_Mutation_p.R987I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R1082I(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGATCCCAGAACAGAATTT	0.383																																					p.R1082I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3245T	8						.						109.0	114.0	112.0					8																	121290381		2203	4300	6503	121359562	SO:0001583	missense	7373	exon27				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3245G>T	8.37:g.121290381G>T	ENSP00000297848:p.Arg1082Ile		121359562	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375168	0.95923	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.84223	-1.82;-1.82;-1.82	5.6	5.6	0.85130	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93330	0.6700	10	0.72032	D	0.01	.	19.618	0.95643	0.0:0.0:1.0:0.0	.	1082	Q05707	COEA1_HUMAN	I	1082;1082;987	ENSP00000311809:R1082I;ENSP00000297848:R1082I;ENSP00000247781:R987I	ENSP00000247781:R987I	R	+	2	0	COL14A1	121359562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.741000	0.74837	2.635000	0.89317	0.650000	0.86243	AGA		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121295928	121295928	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121295928G>A	ENST00000297848.3	+	32	4148	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R1293Q|COL14A1_ENST00000247781.3_Missense_Mutation_p.R1198Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.R1293Q(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCTATTCCGGATTCTTCCT	0.388																																					p.R1293Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3878A	8						.						143.0	133.0	137.0					8																	121295928		2203	4300	6503	121365109	SO:0001583	missense	7373	exon32				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3878G>A	8.37:g.121295928G>A	ENSP00000297848:p.Arg1293Gln		121365109	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430627	0.96150	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02258	4.37;4.37;4.37	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00168	-1.1963	10	0.87932	D	0	.	19.2777	0.94039	0.0:0.0:1.0:0.0	.	1293	Q05707	COEA1_HUMAN	Q	1293;1293;1198	ENSP00000311809:R1293Q;ENSP00000297848:R1293Q;ENSP00000247781:R1198Q	ENSP00000247781:R1198Q	R	+	2	0	COL14A1	121365109	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.551000	0.86045	0.462000	0.41574	CGG		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121327802	121327802	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121327802G>T	ENST00000297848.3	+	39	4852	c.4582G>T	c.(4582-4584)Gat>Tat	p.D1528Y	COL14A1_ENST00000309791.4_Missense_Mutation_p.D1528Y|COL14A1_ENST00000247781.3_Missense_Mutation_p.D1433Y	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.D1528Y(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGAGAAAGGAGATACTGGCCT	0.388																																					p.D1528Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4582T	8						.						101.0	117.0	112.0					8																	121327802		2203	4300	6503	121396983	SO:0001583	missense	7373	exon39				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4582G>T	8.37:g.121327802G>T	ENSP00000297848:p.Asp1528Tyr		121396983	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176102	0.78564	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94330	-3.4;-3.4;-3.4	5.04	5.04	0.67666	.	0.203125	0.51477	D	0.000097	D	0.95265	0.8464	M	0.71581	2.175	0.80722	D	1	P	0.51240	0.943	P	0.55455	0.776	D	0.95566	0.8634	10	0.66056	D	0.02	.	16.2278	0.82311	0.0:0.0:1.0:0.0	.	1528	Q05707	COEA1_HUMAN	Y	1528;1528;1433	ENSP00000311809:D1528Y;ENSP00000297848:D1528Y;ENSP00000247781:D1433Y	ENSP00000247781:D1433Y	D	+	1	0	COL14A1	121396983	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	6.823000	0.75282	2.498000	0.84270	0.655000	0.94253	GAT		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121357724	121357724	+	Missense_Mutation	SNP	G	G	T	rs200266880	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121357724G>T	ENST00000297848.3	+	45	5269	c.4999G>T	c.(4999-5001)Gcc>Tcc	p.A1667S	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1667S|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1572S	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A1667S(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTCACCTGGAGCCCCTGGTGA	0.642																																					p.A1667S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4999T	8						.						47.0	48.0	48.0					8																	121357724		2203	4300	6503	121426905	SO:0001583	missense	7373	exon45				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4999G>T	8.37:g.121357724G>T	ENSP00000297848:p.Ala1667Ser		121426905	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475829	0.26511	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000440844	D;D;D;D	0.93547	-3.23;-3.23;-3.23;-3.24	5.75	1.83	0.25207	.	0.326839	0.36854	N	0.002365	D	0.82967	0.5152	N	0.21097	0.63	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.68465	-0.5401	10	0.08837	T	0.75	.	4.779	0.13192	0.5266:0.2715:0.2019:0.0	.	1667	Q05707	COEA1_HUMAN	S	1667;1667;1572;14	ENSP00000311809:A1667S;ENSP00000297848:A1667S;ENSP00000247781:A1572S;ENSP00000403640:A14S	ENSP00000247781:A1572S	A	+	1	0	COL14A1	121426905	0.953000	0.32496	0.999000	0.59377	0.997000	0.91878	0.835000	0.27531	0.441000	0.26529	0.555000	0.69702	GCC		0.642	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
MTBP	27085	broad.mit.edu	37	8	121457794	121457794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121457794G>T	ENST00000305949.1	+	1	129	c.84G>T	c.(82-84)gaG>gaT	p.E28D	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	28					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.E28D(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGGGCCAGAGGTGTCGTCGG	0.577																																					p.E28D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G84T	8						.						80.0	81.0	81.0					8																	121457794		2203	4300	6503	121526975	SO:0001583	missense	27085	exon1				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.84G>T	8.37:g.121457794G>T	ENSP00000303398:p.Glu28Asp		121526975	NM_022045	B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590160	0.46214	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.05	2.14	0.27477	.	0.750969	0.12924	N	0.427971	T	0.25158	0.0611	N	0.19112	0.55	0.09310	N	1	B;B	0.25809	0.135;0.135	B;B	0.26416	0.069;0.069	T	0.21211	-1.0252	9	0.20046	T	0.44	-3.1456	8.2108	0.31481	0.2757:0.0:0.7243:0.0	.	28;28	Q96DY7;B4DUR5	MTBP_HUMAN;.	D	28	.	ENSP00000303398:E28D	E	+	3	2	MTBP	121526975	0.000000	0.05858	0.002000	0.10522	0.447000	0.32167	-0.300000	0.08243	0.675000	0.31264	0.448000	0.29417	GAG		0.577	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045	
MTBP	27085	broad.mit.edu	37	8	121530321	121530321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:121530321G>T	ENST00000305949.1	+	19	2522	c.2477G>T	c.(2476-2478)aGa>aTa	p.R826I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	826	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.R826I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAATCAAGATCACAGAAA	0.313																																					p.R826I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2477T	8						.						82.0	78.0	80.0					8																	121530321		2203	4300	6503	121599502	SO:0001583	missense	27085	exon19				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2477G>T	8.37:g.121530321G>T	ENSP00000303398:p.Arg826Ile		121599502	NM_022045	B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375674	0.82682	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80935	-0.1160	9	0.87932	D	0	-25.7391	19.8575	0.96767	0.0:0.0:1.0:0.0	.	826	Q96DY7	MTBP_HUMAN	I	826	.	ENSP00000303398:R826I	R	+	2	0	MTBP	121599502	1.000000	0.71417	0.515000	0.27774	0.996000	0.88848	6.963000	0.76055	2.767000	0.95098	0.563000	0.77884	AGA		0.313	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045	
HAS2	3037	broad.mit.edu	37	8	122626880	122626880	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:122626880C>A	ENST00000303924.4	-	4	1665	c.1128G>T	c.(1126-1128)atG>atT	p.M376I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	376					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.M376I(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTTCGTAGGTCATCCACAAGT	0.438																																					p.M376I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1128T	8						.						170.0	148.0	155.0					8																	122626880		2203	4300	6503	122696061	SO:0001583	missense	3037	exon4			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1128G>T	8.37:g.122626880C>A	ENSP00000306991:p.Met376Ile		122696061	NM_005328	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224769	0.79576	.	.	ENSG00000170961	ENST00000303924	T	0.58358	0.34	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.76574	2.34	0.80722	D	1	P	0.51240	0.943	P	0.55391	0.775	T	0.71451	-0.4589	10	0.72032	D	0.01	-26.5641	20.5385	0.99246	0.0:1.0:0.0:0.0	.	376	Q92819	HAS2_HUMAN	I	376	ENSP00000306991:M376I	ENSP00000306991:M376I	M	-	3	0	HAS2	122696061	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.801000	0.85960	2.863000	0.98299	0.549000	0.68633	ATG		0.438	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
HAS2	3037	broad.mit.edu	37	8	122626944	122626944	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:122626944C>T	ENST00000303924.4	-	4	1601	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	355					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.S355N(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTAGGACTTGCTCCAACGGGT	0.448																																					p.S355N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1064A	8						.						162.0	140.0	147.0					8																	122626944		2203	4300	6503	122696125	SO:0001583	missense	3037	exon4			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1064G>A	8.37:g.122626944C>T	ENSP00000306991:p.Ser355Asn		122696125	NM_005328	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076355	0.76415	.	.	ENSG00000170961	ENST00000303924	T	0.59638	0.25	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	T	0.59825	-0.7381	10	0.30854	T	0.27	-21.263	20.5385	0.99246	0.0:1.0:0.0:0.0	.	355	Q92819	HAS2_HUMAN	N	355	ENSP00000306991:S355N	ENSP00000306991:S355N	S	-	2	0	HAS2	122696125	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.983000	0.70540	2.863000	0.98299	0.549000	0.68633	AGC		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
TBC1D31	93594	broad.mit.edu	37	8	124153002	124153002	+	Splice_Site	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124153002A>T	ENST00000287380.1	+	18	2591	c.2501A>T	c.(2500-2502)aAt>aTt	p.N834I	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000309336.3_Splice_Site_p.N834I|TBC1D31_ENST00000521676.1_Splice_Site_p.N711I|TBC1D31_ENST00000518805.1_Splice_Site_p.N388I|TBC1D31_ENST00000522420.1_Splice_Site_p.N729I|TBC1D31_ENST00000327098.5_Splice_Site_p.N803I	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	834						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.N834I(1)									TTTTAACAGAATCTTACTGAA	0.303																																					p.N834I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2501T	8						.						43.0	46.0	45.0					8																	124153002		2202	4300	6502	124222183	SO:0001630	splice_region_variant	93594	exon18			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2500-1A>T	8.37:g.124153002A>T			124222183	NM_145647	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.915032	0.17907	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;T;T;D;D;T	0.85411	-1.98;-0.24;-0.28;-1.98;-1.98;1.0	5.76	3.28	0.37604	.	0.963671	0.08669	N	0.911161	T	0.74481	0.3722	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.27625	0.078;0.076;0.183;0.078	B;B;B;B	0.24541	0.013;0.047;0.054;0.035	T	0.66126	-0.6001	10	0.42905	T	0.14	-2.7441	6.1863	0.20500	0.7466:0.0:0.1292:0.1241	.	803;834;729;834	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	I	834;834;803;729;711;388	ENSP00000287380:N834I;ENSP00000308358:N834I;ENSP00000312701:N803I;ENSP00000429334:N729I;ENSP00000430628:N711I;ENSP00000429494:N388I	ENSP00000287380:N834I	N	+	2	0	WDR67	124222183	1.000000	0.71417	0.340000	0.25575	0.330000	0.28571	1.731000	0.38135	0.951000	0.37770	0.482000	0.46254	AAT		0.303	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Missense_Mutation
FAM83A	84985	broad.mit.edu	37	8	124204060	124204060	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124204060G>T	ENST00000518448.1	+	3	2512	c.498G>T	c.(496-498)atG>atT	p.M166I	FAM83A_ENST00000318462.6_Missense_Mutation_p.M166I|FAM83A_ENST00000536633.1_Missense_Mutation_p.M166I|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Missense_Mutation_p.M166I			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	166								p.M166I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCATCCTGATGGATGTGTTCA	0.557																																					p.M166I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	8						.						210.0	191.0	198.0					8																	124204060		2203	4300	6503	124273241	SO:0001583	missense	84985	exon2			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.498G>T	8.37:g.124204060G>T	ENSP00000428876:p.Met166Ile		124273241	NM_032899	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257459	0.95368	.	.	ENSG00000147689	ENST00000518448;ENST00000536633;ENST00000318462;ENST00000276699	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.58945	-0.7546	10	0.72032	D	0.01	-44.7437	19.7629	0.96329	0.0:0.0:1.0:0.0	.	166;166	Q86UY5-3;Q86UY5	.;FA83A_HUMAN	I	166	ENSP00000428876:M166I;ENSP00000445218:M166I;ENSP00000323034:M166I;ENSP00000276699:M166I	ENSP00000276699:M166I	M	+	3	0	FAM83A	124273241	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.149000	0.94659	2.666000	0.90696	0.561000	0.74099	ATG		0.557	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899	
ZHX1	11244	broad.mit.edu	37	8	124267657	124267657	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124267657G>T	ENST00000522655.1	-	3	1070	c.530C>A	c.(529-531)tCt>tAt	p.S177Y	ZHX1_ENST00000297857.2_Missense_Mutation_p.S177Y|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.S177Y|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	177					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S177Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTACTGATAGATATTCCCGA	0.338																																					p.S177Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530A	8						.						99.0	102.0	101.0					8																	124267657		2203	4299	6502	124336838	SO:0001583	missense	11244	exon3			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.530C>A	8.37:g.124267657G>T	ENSP00000428821:p.Ser177Tyr		124336838	NM_001017926	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938488	0.73557	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.52295	0.67;0.67;0.67	5.66	5.66	0.87406	.	0.202573	0.42821	D	0.000644	T	0.58581	0.2132	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.49752	0.621	T	0.60870	-0.7177	9	0.59425	D	0.04	-3.8755	19.7433	0.96241	0.0:0.0:1.0:0.0	.	177	Q9UKY1	ZHX1_HUMAN	Y	177	ENSP00000297857:S177Y;ENSP00000378938:S177Y;ENSP00000428821:S177Y	ENSP00000297857:S177Y	S	-	2	0	ZHX1	124336838	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.434000	0.97515	2.662000	0.90505	0.555000	0.69702	TCT		0.338	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1		
ATAD2	29028	broad.mit.edu	37	8	124348640	124348640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124348640C>A	ENST00000287394.5	-	22	3291	c.3184G>T	c.(3184-3186)Gaa>Taa	p.E1062*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.E380*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1062	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1062*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATTGTATTCTAAGGCATTA	0.378																																					p.E1062X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3184T	8						.						83.0	80.0	81.0					8																	124348640		2203	4299	6502	124417821	SO:0001587	stop_gained	29028	exon22			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3184G>T	8.37:g.124348640C>A	ENSP00000287394:p.Glu1062*		124417821	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	41	8.601564	0.98881	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	.	.	.	5.89	5.89	0.94794	.	0.136177	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.8847	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	1062;380	.	ENSP00000287394:E1062X	E	-	1	0	ATAD2	124417821	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	5.762000	0.68809	2.783000	0.95769	0.655000	0.94253	GAA		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
ATAD2	29028	broad.mit.edu	37	8	124349986	124349986	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124349986C>T	ENST00000287394.5	-	21	3037	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	ATAD2_ENST00000521903.1_Missense_Mutation_p.R295Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	977					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R977Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTCTAGTCGTTTCACTTC	0.408																																					p.R977Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2930A	8						.						218.0	199.0	205.0					8																	124349986		2203	4300	6503	124419167	SO:0001583	missense	29028	exon21			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2930G>A	8.37:g.124349986C>T	ENSP00000287394:p.Arg977Gln		124419167	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088604	0.36855	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82619	-1.63;-1.63	5.58	1.8	0.24995	Bromodomain (1);	0.625902	0.15622	N	0.252836	T	0.69815	0.3153	L	0.34521	1.04	0.09310	N	0.999997	B	0.25850	0.136	B	0.14023	0.01	T	0.49969	-0.8882	10	0.13470	T	0.59	-0.3591	10.0423	0.42166	0.0:0.5307:0.0:0.4693	.	977	Q6PL18	ATAD2_HUMAN	Q	977;295	ENSP00000287394:R977Q;ENSP00000429213:R295Q	ENSP00000287394:R977Q	R	-	2	0	ATAD2	124419167	0.002000	0.14202	0.028000	0.17463	0.980000	0.70556	0.353000	0.20130	0.114000	0.18032	0.650000	0.86243	CGA		0.408	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
ATAD2	29028	broad.mit.edu	37	8	124357187	124357187	+	Silent	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124357187A>T	ENST00000287394.5	-	19	2762	c.2655T>A	c.(2653-2655)ccT>ccA	p.P885P	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Silent_p.P203P	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	885					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P885P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GAGCAAATGAAGGAATATTCT	0.403																																					p.P885P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2655A	8						.						164.0	152.0	156.0					8																	124357187		2203	4300	6503	124426368	SO:0001819	synonymous_variant	29028	exon19			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2655T>A	8.37:g.124357187A>T			124426368	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	CCDS6343.1																																																																																				0.403	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
FBXO32	114907	broad.mit.edu	37	8	124516969	124516969	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124516969G>T	ENST00000517956.1	-	8	1044	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	FBXO32_ENST00000443022.2_Missense_Mutation_p.L192M	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	285					cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)		p.L285M(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGTCTGACAGAATTAATCGT	0.403																																					p.L285M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C853A	8						.						106.0	93.0	98.0					8																	124516969		2203	4300	6503	124586150	SO:0001583	missense	114907	exon8			AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.853C>A	8.37:g.124516969G>T	ENSP00000428205:p.Leu285Met		124586150	NM_058229	A4KYM0	Missense_Mutation	SNP	ENST00000517956.1	37	CCDS6345.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815455	0.50527	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	T;T	0.24538	1.85;1.85	5.18	-1.95	0.07548	F-box domain, Skp2-like (1);	0.125441	0.53938	D	0.000046	T	0.27278	0.0669	L	0.36672	1.1	0.41857	D	0.9902	D;P	0.65815	0.995;0.845	D;P	0.66847	0.947;0.73	T	0.21690	-1.0238	10	0.33940	T	0.23	0.2683	2.9992	0.06008	0.4252:0.1137:0.3504:0.1107	.	192;285	A4KYM0;Q969P5	.;FBX32_HUMAN	M	285;192	ENSP00000428205:L285M;ENSP00000390790:L192M	ENSP00000390790:L192M	L	-	1	2	FBXO32	124586150	0.958000	0.32768	0.978000	0.43139	0.984000	0.73092	0.491000	0.22419	-0.490000	0.06707	-0.367000	0.07326	CTG		0.403	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		
KLHL38	340359	broad.mit.edu	37	8	124664387	124664387	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124664387G>T	ENST00000325995.7	-	1	803	c.780C>A	c.(778-780)ttC>ttA	p.F260L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	260								p.F260L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACACAAAGAGAACATCTGTC	0.542																																					p.F260L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C780A	8						.						74.0	77.0	76.0					8																	124664387		2084	4214	6298	124733568	SO:0001583	missense	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.780C>A	8.37:g.124664387G>T	ENSP00000321475:p.Phe260Leu		124733568	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955341	0.18507	.	.	ENSG00000175946	ENST00000325995	T	0.70869	-0.52	5.69	-0.165	0.13355	.	0.049614	0.85682	D	0.000000	T	0.60869	0.2302	M	0.75447	2.3	0.43360	D	0.995439	B	0.09022	0.002	B	0.06405	0.002	T	0.54125	-0.8340	10	0.02654	T	1	.	10.3086	0.43695	0.4769:0.0:0.5231:0.0	.	260	Q2WGJ6	KLH38_HUMAN	L	260	ENSP00000321475:F260L	ENSP00000321475:F260L	F	-	3	2	KLHL38	124733568	0.329000	0.24696	0.885000	0.34714	0.323000	0.28346	-0.201000	0.09464	-0.027000	0.13873	0.561000	0.74099	TTC		0.542	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
KLHL38	340359	broad.mit.edu	37	8	124664615	124664615	+	Silent	SNP	G	G	A	rs116917652		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124664615G>A	ENST00000325995.7	-	1	575	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	184	BACK.							p.L184L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATCATCTCCGAGATAGTCCC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20754	0.001		0.0	False		,,,				2504	0.0				p.L184L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	8						.						59.0	60.0	59.0					8																	124664615		2011	4169	6180	124733796	SO:0001819	synonymous_variant	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.552C>T	8.37:g.124664615G>A			124733796	NM_001081675	A0PK12	Silent	SNP	ENST00000325995.7	37	CCDS43766.1																																																																																				0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
FAM91A1	157769	broad.mit.edu	37	8	124786341	124786341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124786341G>T	ENST00000334705.7	+	2	340	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	FAM91A1_ENST00000521166.1_Nonsense_Mutation_p.E32*	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	32								p.E32*(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTCACAGAGAGAATATGAAAA	0.338																																					p.E32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G94T	8						.						151.0	153.0	153.0					8																	124786341		1814	4077	5891	124855522	SO:0001587	stop_gained	157769	exon2			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.94G>T	8.37:g.124786341G>T	ENSP00000335082:p.Glu32*		124855522	NM_144963	B6YY23|Q658T5|Q8TE89	Nonsense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	37	6.336463	0.97485	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.6963	0.96028	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000335082:E32X	E	+	1	0	FAM91A1	124855522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.109000	0.94291	2.659000	0.90383	0.591000	0.81541	GAA		0.338	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	
FAM91A1	157769	broad.mit.edu	37	8	124801946	124801946	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124801946C>A	ENST00000334705.7	+	15	1618	c.1372C>A	c.(1372-1374)Cta>Ata	p.L458I	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L458I	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	458								p.L458I(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TAACAAAGATCTAGTTGCGCA	0.353																																					p.L458I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1372A	8						.						95.0	84.0	87.0					8																	124801946		1885	4107	5992	124871127	SO:0001583	missense	157769	exon15			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1372C>A	8.37:g.124801946C>A	ENSP00000335082:p.Leu458Ile		124871127	NM_144963	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779375	0.49891	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.34667	1.35;1.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.41236	1.265	0.58432	D	0.999997	B;B	0.31318	0.319;0.319	B;B	0.30105	0.111;0.111	T	0.08330	-1.0727	10	0.44086	T	0.13	.	14.3615	0.66773	0.0:0.9259:0.0:0.0741	.	458;458	E7ER68;Q658Y4	.;F91A1_HUMAN	I	458	ENSP00000429491:L458I;ENSP00000335082:L458I	ENSP00000335082:L458I	L	+	1	2	FAM91A1	124871127	0.966000	0.33281	0.991000	0.47740	0.716000	0.41182	2.260000	0.43267	2.577000	0.86979	0.557000	0.71058	CTA		0.353	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963	
FER1L6	654463	broad.mit.edu	37	8	124989831	124989831	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:124989831G>A	ENST00000522917.1	+	10	1251	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E349K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	349						integral component of membrane (GO:0016021)		p.E349K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATCTCCAACGAACAGGATGG	0.468																																					p.E349K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045A	8						.						87.0	85.0	86.0					8																	124989831		1934	4138	6072	125059012	SO:0001583	missense	654463	exon10			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1045G>A	8.37:g.124989831G>A	ENSP00000428280:p.Glu349Lys		125059012	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724888	0.89298	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.09255	3.0;3.0	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.29190	0.0726	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.01182	-1.1426	10	0.19147	T	0.46	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	349	Q2WGJ9	FR1L6_HUMAN	K	349	ENSP00000428280:E349K;ENSP00000381982:E349K	ENSP00000381982:E349K	E	+	1	0	FER1L6	125059012	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.543000	0.90651	2.608000	0.88229	0.561000	0.74099	GAA		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125033834	125033834	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125033834G>T	ENST00000522917.1	+	17	2264	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.K686N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	686						integral component of membrane (GO:0016021)		p.K686N(1)|p.K686K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCAGCAGAAGAAAAAGTTAT	0.433																																					p.K686N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G2058T	8						.						124.0	122.0	122.0					8																	125033834		1952	4151	6103	125103015	SO:0001583	missense	654463	exon17			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2058G>T	8.37:g.125033834G>T	ENSP00000428280:p.Lys686Asn		125103015	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870963	0.51695	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81415	-1.49;-1.49	5.77	5.77	0.91146	.	0.149392	0.42420	U	0.000707	T	0.75481	0.3855	M	0.63428	1.95	0.44142	D	0.996938	P	0.39576	0.679	B	0.37091	0.241	T	0.71777	-0.4490	10	0.17832	T	0.49	.	12.1325	0.53950	0.0793:0.0:0.9207:0.0	.	686	Q2WGJ9	FR1L6_HUMAN	N	686	ENSP00000428280:K686N;ENSP00000381982:K686N	ENSP00000381982:K686N	K	+	3	2	FER1L6	125103015	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.187000	0.50950	2.727000	0.93392	0.591000	0.81541	AAG		0.433	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125072830	125072830	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125072830C>T	ENST00000522917.1	+	24	3233	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1009L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1009						integral component of membrane (GO:0016021)		p.L1009L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGTGCAGCTCCTCTCTGTGG	0.562																																					p.L1009L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3027T	8						.						153.0	130.0	138.0					8																	125072830		2203	4300	6503	125142011	SO:0001819	synonymous_variant	654463	exon24			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3027C>T	8.37:g.125072830C>T			125142011	NM_001039112		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.562	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125072945	125072945	+	Missense_Mutation	SNP	G	G	A	rs200333104		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125072945G>A	ENST00000522917.1	+	24	3348	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1048K|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1048	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.E1048K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGACGCTTTCGAAGTGGTGCG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18406	0.0		0.001	False		,,,				2504	0.0				p.E1048K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3142A	8						.						110.0	106.0	107.0					8																	125072945		2203	4300	6503	125142126	SO:0001583	missense	654463	exon24			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3142G>A	8.37:g.125072945G>A	ENSP00000428280:p.Glu1048Lys		125142126	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.8	4.572111	0.86542	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81821	-1.54;-1.54	6.06	6.06	0.98353	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.117978	0.56097	U	0.000028	D	0.83852	0.5344	L	0.42245	1.32	0.80722	D	1	D	0.62365	0.991	P	0.55055	0.767	T	0.80984	-0.1138	10	0.34782	T	0.22	-13.0665	20.2159	0.98296	0.0:0.0:1.0:0.0	.	1048	Q2WGJ9	FR1L6_HUMAN	K	1048	ENSP00000428280:E1048K;ENSP00000381982:E1048K	ENSP00000381982:E1048K	E	+	1	0	FER1L6	125142126	1.000000	0.71417	0.946000	0.38457	0.135000	0.20990	9.779000	0.99018	2.882000	0.98803	0.655000	0.94253	GAA		0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TMEM65	157378	broad.mit.edu	37	8	125332344	125332344	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125332344G>A	ENST00000297632.6	-	6	1138	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	202						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R202C(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTACTAAGACGTGTTTGCCAC	0.418																																					p.R202C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C604T	8						.						155.0	139.0	144.0					8																	125332344		2203	4300	6503	125401525	SO:0001583	missense	157378	exon6			BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.604C>T	8.37:g.125332344G>A	ENSP00000297632:p.Arg202Cys		125401525	NM_194291	Q8N5G8|Q8WVK5	Missense_Mutation	SNP	ENST00000297632.6	37	CCDS6348.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193880	0.78902	.	.	ENSG00000164983	ENST00000297632	T	0.54479	0.57	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.57946	0.2088	M	0.89214	3.015	0.80722	D	1	P	0.38642	0.641	B	0.33521	0.165	T	0.66783	-0.5836	10	0.72032	D	0.01	.	13.2249	0.59909	0.0737:0.0:0.9263:0.0	.	202	Q6PI78	TMM65_HUMAN	C	202	ENSP00000297632:R202C	ENSP00000297632:R202C	R	-	1	0	TMEM65	125401525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.650000	0.61440	1.421000	0.47157	0.655000	0.94253	CGT		0.418	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291	
TATDN1	83940	broad.mit.edu	37	8	125499053	125499053	+	IGR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125499053G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.R388I	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R388I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTTTCGTAGACATTTTCCT	0.393																																					p.R388I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163T	8						.						395.0	379.0	384.0					8																	125499053		2203	4300	6503	125568234	SO:0001628	intergenic_variant	11236	exon2			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499053G>T			125568234	NM_007218	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545912	0.65198	.	.	ENSG00000170881	ENST00000303545	T	0.26957	1.7	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55879	-0.8071	10	0.51188	T	0.08	-9.9035	19.2104	0.93751	0.0:0.0:1.0:0.0	.	388	Q8WU17	RN139_HUMAN	I	388	ENSP00000304051:R388I	ENSP00000304051:R388I	R	+	2	0	RNF139	125568234	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.071000	0.93980	2.590000	0.87494	0.655000	0.94253	AGA		0.393	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
TATDN1	83940	broad.mit.edu	37	8	125499824	125499824	+	IGR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:125499824G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.R645I	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R645I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAAAGAGAAAGAAATGGAGTG	0.383																																					p.R645I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1934T	8						.						78.0	75.0	76.0					8																	125499824		2203	4299	6502	125569005	SO:0001628	intergenic_variant	11236	exon2			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499824G>T			125569005	NM_007218	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831274	0.32329	.	.	ENSG00000170881	ENST00000303545	T	0.25085	1.82	5.11	5.11	0.69529	.	0.232450	0.33199	N	0.005167	T	0.30039	0.0752	N	0.08118	0	0.47153	D	0.999334	D	0.61697	0.99	D	0.66497	0.944	T	0.23226	-1.0194	10	0.48119	T	0.1	-9.6937	16.421	0.83758	0.0:0.0:1.0:0.0	.	645	Q8WU17	RN139_HUMAN	I	645	ENSP00000304051:R645I	ENSP00000304051:R645I	R	+	2	0	RNF139	125569005	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.249000	0.43169	2.816000	0.96949	0.561000	0.74099	AGA		0.383	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
LONRF1	91694	broad.mit.edu	37	8	12586510	12586510	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:12586510G>A	ENST00000398246.3	-	10	1979	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Missense_Mutation_p.S63F|LONRF1_ENST00000533751.1_Missense_Mutation_p.S280F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	637	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S637F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		ATCAACCACAGACCTTCCGTC	0.363																																					p.S637F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1910T	8						.						132.0	121.0	124.0					8																	12586510		1841	4088	5929	12630881	SO:0001583	missense	91694	exon10			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1910C>T	8.37:g.12586510G>A	ENSP00000381298:p.Ser637Phe		12630881	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784136	0.90282	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.04	5.04	0.67666	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.73217	2.22	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.77557	0.984;0.99	T	0.55573	-0.8120	10	0.15066	T	0.55	-17.9999	19.2731	0.94018	0.0:0.0:1.0:0.0	.	626;637	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	F	637;63;280;240	ENSP00000381298:S637F;ENSP00000436770:S63F;ENSP00000432130:S280F;ENSP00000433327:S240F	ENSP00000381298:S637F	S	-	2	0	LONRF1	12630881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.733000	0.93635	0.557000	0.71058	TCT		0.363	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
LONRF1	91694	broad.mit.edu	37	8	12594230	12594230	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:12594230G>A	ENST00000398246.3	-	6	1500	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.F120F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	477							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.F477F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAGAACACTCGAAATCTGAGA	0.313																																					p.F477F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431T	8						.						75.0	70.0	71.0					8																	12594230		1819	4071	5890	12638601	SO:0001819	synonymous_variant	91694	exon6			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1431C>T	8.37:g.12594230G>A			12638601	NM_152271	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	CCDS5987.2																																																																																				0.313	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	
SQLE	6713	broad.mit.edu	37	8	126019643	126019643	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:126019643A>G	ENST00000265896.5	+	4	1634	c.736A>G	c.(736-738)Att>Gtt	p.I246V	SQLE_ENST00000523430.1_Missense_Mutation_p.I151V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	246					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)	p.I246V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGCAAAGTTTATTGAAGGTGT	0.303																																					p.I246V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A736G	8						.						108.0	99.0	102.0					8																	126019643		1832	4049	5881	126088824	SO:0001583	missense	6713	exon4			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.736A>G	8.37:g.126019643A>G	ENSP00000265896:p.Ile246Val		126088824	NM_003129	Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	A	1.528	-0.545229	0.04024	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193	T;T	0.41065	1.01;1.01	5.14	3.98	0.46160	.	0.201498	0.49916	N	0.000136	T	0.21468	0.0517	N	0.13371	0.34	0.27800	N	0.942516	B	0.09022	0.002	B	0.08055	0.003	T	0.21930	-1.0231	10	0.05959	T	0.93	-16.0187	10.5939	0.45325	0.924:0.0:0.076:0.0	.	246	Q14534	ERG1_HUMAN	V	151;246;51	ENSP00000430331:I151V;ENSP00000265896:I246V	ENSP00000265896:I246V	I	+	1	0	SQLE	126088824	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.331000	0.52075	0.833000	0.34828	0.248000	0.18094	ATT		0.303	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129	
TRIB1	10221	broad.mit.edu	37	8	126448662	126448662	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:126448662G>T	ENST00000519576.1	+	2	638	c.375G>T	c.(373-375)caG>caT	p.Q125H	TRIB1_ENST00000520847.1_Missense_Mutation_p.Q190H|TRIB1_ENST00000311922.3_Missense_Mutation_p.Q356H					tribbles pseudokinase 1									p.Q356H(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CTTCAGACCAGATTGTTCCAG	0.493																																					p.Q356H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1068T	8						.						83.0	85.0	85.0					8																	126448662		2203	4300	6503	126517844	SO:0001583	missense	10221	exon3			AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.375G>T	8.37:g.126448662G>T	ENSP00000428879:p.Gln125His		126517844	NM_025195		Missense_Mutation	SNP	ENST00000519576.1	37		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756447	0.69648	.	.	ENSG00000173334	ENST00000311922;ENST00000520847;ENST00000519576	T;T;T	0.48522	0.81;0.83;1.09	5.88	5.88	0.94601	.	0.000000	0.31809	U	0.007024	T	0.58637	0.2136	L	0.36672	1.1	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.59064	-0.7524	10	0.66056	D	0.02	-21.5236	13.115	0.59295	0.0736:0.0:0.9264:0.0	.	356	Q96RU8	TRIB1_HUMAN	H	356;190;125	ENSP00000312150:Q356H;ENSP00000429063:Q190H;ENSP00000428879:Q125H	ENSP00000312150:Q356H	Q	+	3	2	TRIB1	126517844	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.789000	0.38724	2.797000	0.96272	0.561000	0.74099	CAG		0.493	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1	NM_025195	
GSDMC	56169	broad.mit.edu	37	8	130772805	130772805	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:130772805C>A	ENST00000276708.4	-	6	1588	c.707G>T	c.(706-708)aGa>aTa	p.R236I		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	236						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.R236I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGAAAGGTTCTCTGTTCATC	0.373																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	8						.						104.0	101.0	102.0					8																	130772805		2203	4300	6503	130841987	SO:0001583	missense	56169	exon6			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.707G>T	8.37:g.130772805C>A	ENSP00000276708:p.Arg236Ile		130841987	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800629	0.16397	.	.	ENSG00000147697	ENST00000276708	T	0.25749	1.78	3.69	-1.92	0.07618	.	4.434490	0.00728	N	0.000935	T	0.16727	0.0402	L	0.32530	0.975	0.09310	N	1	B	0.24533	0.105	B	0.19148	0.024	T	0.11446	-1.0587	10	0.37606	T	0.19	.	0.3993	0.00423	0.1818:0.2305:0.1869:0.4008	.	236	Q9BYG8	GSDMC_HUMAN	I	236	ENSP00000276708:R236I	ENSP00000276708:R236I	R	-	2	0	GSDMC	130841987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.320000	0.08640	-0.482000	0.04802	AGA		0.373	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
FAM49B	51571	broad.mit.edu	37	8	130867925	130867925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:130867925G>A	ENST00000519824.2	-	6	643	c.370C>T	c.(370-372)Cga>Tga	p.R124*	FAM49B_ENST00000523509.1_Nonsense_Mutation_p.R124*|FAM49B_ENST00000522746.1_Nonsense_Mutation_p.R124*|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.R124*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.R124*|FAM49B_ENST00000401979.2_Nonsense_Mutation_p.R124*|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.R124*|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000518879.1_5'UTR	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	124						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.R124*(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCCTGCTCTCGCTCTAGATGC	0.398																																					p.R124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C370T	8						.						86.0	89.0	88.0					8																	130867925		2203	4300	6503	130937107	SO:0001587	stop_gained	51571	exon9			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.370C>T	8.37:g.130867925G>A	ENSP00000429150:p.Arg124*		130937107	NM_016623	Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	ENST00000519824.2	37	CCDS6361.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.334678|6.334678	0.97485|0.97485	.|.	.|.	ENSG00000153310|ENSG00000153310	ENST00000311292|ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.55561|.	0.1928|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41215|.	-0.9521|.	5|.	0.21014|0.07990	T|T	0.42|0.79	-3.992|-3.992	19.848|19.848	0.96722|0.96722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	78|124	.|.	ENSP00000311651:A78V|ENSP00000384880:R124X	A|R	-|-	2|1	0|2	FAM49B|FAM49B	130937107|130937107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.004000|8.004000	0.88535|0.88535	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623	
ASAP1	50807	broad.mit.edu	37	8	131104311	131104311	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:131104311G>T	ENST00000518721.1	-	25	2707	c.2480C>A	c.(2479-2481)cCt>cAt	p.P827H	ASAP1_ENST00000357668.1_Missense_Mutation_p.P827H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	827	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.P827H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGGGGGAGGAGGCCTCTTCTT	0.572																																					p.P827H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2480A	8						.						82.0	84.0	83.0					8																	131104311		2203	4300	6503	131173493	SO:0001583	missense	50807	exon24			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2480C>A	8.37:g.131104311G>T	ENSP00000429900:p.Pro827His		131173493	NM_018482	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658349	0.88154	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.07021	3.23;3.23	5.3	5.3	0.74995	.	0.563007	0.19187	N	0.120526	T	0.22742	0.0549	L	0.50333	1.59	0.80722	D	1	D;D;D	0.65815	0.992;0.992;0.995	P;P;P	0.60415	0.751;0.751;0.874	T	0.00138	-1.2003	10	0.87932	D	0	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	827;827;830	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	H	830;827;827	ENSP00000350297:P827H;ENSP00000429900:P827H	ENSP00000344591:P830H	P	-	2	0	ASAP1	131173493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.722000	0.91452	2.639000	0.89480	0.455000	0.32223	CCT		0.572	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ASAP1	50807	broad.mit.edu	37	8	131124416	131124416	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:131124416G>A	ENST00000518721.1	-	24	2552	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	ASAP1_ENST00000357668.1_Silent_p.F775F	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	775					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.F775F(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTGTGGAAACGAAGATCTGGT	0.587																																					p.F775F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2325T	8						.						188.0	170.0	176.0					8																	131124416		2203	4300	6503	131193598	SO:0001819	synonymous_variant	50807	exon23			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2325C>T	8.37:g.131124416G>A			131193598	NM_018482	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029636	0.19512	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.82	-2.45	0.06481	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.47245	D	0.999366	.	.	.	.	.	.	T	0.56195	-0.8019	4	.	.	.	.	11.8286	0.52282	0.6398:0.0:0.3602:0.0	.	.	.	.	C	596;189	.	.	R	-	1	0	ASAP1	131193598	0.942000	0.31987	0.026000	0.17262	0.998000	0.95712	0.162000	0.16501	-0.386000	0.07821	0.655000	0.94253	CGT		0.587	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ASAP1	50807	broad.mit.edu	37	8	131226912	131226912	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:131226912G>T	ENST00000518721.1	-	5	522	c.295C>A	c.(295-297)Ctt>Att	p.L99I	ASAP1_ENST00000357668.1_Missense_Mutation_p.L99I	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	99					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L99I(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTATCAAGAACTTGTGCA	0.363																																					p.L99I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C295A	8						.						70.0	73.0	72.0					8																	131226912		2203	4300	6503	131296094	SO:0001583	missense	50807	exon4			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.295C>A	8.37:g.131226912G>T	ENSP00000429900:p.Leu99Ile		131296094	NM_018482	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997427	0.74818	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367;ENST00000521426	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.28	5.28	0.74379	IRSp53/MIM homology domain (IMD) (1);	0.146541	0.46758	D	0.000277	T	0.15176	0.0366	L	0.52206	1.635	0.80722	D	1	D;D	0.53151	0.958;0.958	B;B	0.42386	0.386;0.386	T	0.00605	-1.1648	10	0.59425	D	0.04	.	11.7076	0.51605	0.0809:0.0:0.9191:0.0	.	99;99	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	I	99;99;99;69;92	ENSP00000350297:L99I;ENSP00000429900:L99I;ENSP00000430588:L69I;ENSP00000430917:L92I	ENSP00000344591:L99I	L	-	1	0	ASAP1	131296094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.637000	0.89404	0.585000	0.79938	CTT		0.363	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ADCY8	114	broad.mit.edu	37	8	131792792	131792792	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:131792792G>A	ENST00000286355.5	-	18	5692	c.3600C>T	c.(3598-3600)gtC>gtT	p.V1200V	ADCY8_ENST00000377928.3_Silent_p.V1069V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1200					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V1200V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAGGGACTGGACAAGTCCCA	0.527										HNSCC(32;0.087)																											p.V1200V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3600T	8						.						160.0	152.0	155.0					8																	131792792		2203	4300	6503	131861974	SO:0001819	synonymous_variant	114	exon18			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3600C>T	8.37:g.131792792G>A			131861974	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.527	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ADCY8	114	broad.mit.edu	37	8	131921959	131921959	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:131921959G>A	ENST00000286355.5	-	6	3727	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	ADCY8_ENST00000377928.3_Silent_p.I545I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	545					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.I545I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTACCCAGGGATTCCTCCAG	0.463										HNSCC(32;0.087)																											p.I545I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1635T	8						.						233.0	209.0	217.0					8																	131921959		2203	4300	6503	131991141	SO:0001819	synonymous_variant	114	exon6			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1635C>T	8.37:g.131921959G>A			131991141	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.463	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
DLC1	10395	broad.mit.edu	37	8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:13251148G>A	ENST00000276297.4	-	4	1637	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.R410*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.R410*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	410					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R410L(3)|p.R410*(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423																																					p.R410X												.	.	5	Substitution - Missense(3)|Substitution - Nonsense(2)	lung(3)|large_intestine(2)	c.C1228T	8						.						163.0	152.0	156.0					8																	13251148		2203	4300	6503	13295519	SO:0001587	stop_gained	10395	exon4			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1228C>T	8.37:g.13251148G>A	ENSP00000276297:p.Arg410*		13295519	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488499	0.96323	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	4.78	3.89	0.44902	.	1.162670	0.06418	N	0.721807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.0033	0.58690	0.0:0.0:0.8382:0.1618	.	.	.	.	X	410	.	ENSP00000276297:R410X	R	-	1	2	DLC1	13295519	0.269000	0.24143	0.003000	0.11579	0.365000	0.29674	2.706000	0.47135	1.347000	0.45714	0.650000	0.86243	CGA		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
ADCY8	114	broad.mit.edu	37	8	132051899	132051899	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:132051899G>A	ENST00000286355.5	-	1	2773	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ADCY8_ENST00000377928.3_Silent_p.C227C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	227					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.C227C(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACCAGGGCGCAGATCACTA	0.627										HNSCC(32;0.087)																											p.C227C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681T	8						.						61.0	58.0	59.0					8																	132051899		2203	4300	6503	132121081	SO:0001819	synonymous_variant	114	exon1			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.681C>T	8.37:g.132051899G>A			132121081	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.627	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
EFR3A	23167	broad.mit.edu	37	8	132982784	132982784	+	Silent	SNP	C	C	T	rs528953018		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:132982784C>T	ENST00000254624.5	+	10	1278	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	EFR3A_ENST00000519656.1_Silent_p.F315F|EFR3A_ENST00000334503.4_Silent_p.F351F	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	351						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.F351F(1)|p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCGTTGAATTCGAAGCAAATG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16804	0.0		0.0	False		,,,				2504	0.001				p.F351F												.	.	2	Deletion - Frameshift(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.C1053T	8						.						100.0	94.0	96.0					8																	132982784		2203	4300	6503	133051966	SO:0001819	synonymous_variant	23167	exon10			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1053C>T	8.37:g.132982784C>T			133051966	NM_015137	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	CCDS34942.2																																																																																				0.398	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
KCNQ3	3786	broad.mit.edu	37	8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133196530G>A	ENST00000388996.4	-	3	982	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R188W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTCGGCCCCGCCAGCCTTTG	0.537																																					p.R188W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C562T	8						.						85.0	87.0	87.0					8																	133196530		2203	4300	6503	133265712	SO:0001583	missense	3786	exon3			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.562C>T	8.37:g.133196530G>A	ENSP00000373648:p.Arg188Trp		133265712	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304080	0.81136	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97772	-4.53;-4.53;-4.53	5.87	2.71	0.32032	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	L	0.49699	1.58	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	-24.2394	13.0159	0.58757	0.0:0.0:0.3351:0.6648	.	188;188	E7ET42;O43525	.;KCNQ3_HUMAN	W	188;68;188;177;67	ENSP00000373648:R188W;ENSP00000429799:R68W;ENSP00000428790:R188W	ENSP00000373648:R188W	R	-	1	2	KCNQ3	133265712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.634000	0.46528	0.754000	0.32968	0.655000	0.94253	CGG		0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
PHF20L1	51105	broad.mit.edu	37	8	133826884	133826884	+	Silent	SNP	G	G	A	rs79154195		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133826884G>A	ENST00000395386.2	+	10	1232	c.933G>A	c.(931-933)gcG>gcA	p.A311A	PHF20L1_ENST00000395390.2_Silent_p.A286A|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	311							zinc ion binding (GO:0008270)	p.A285A(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ttattCAGGCGATTTCACCTA	0.323																																					p.A311A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G933A	8						.						43.0	47.0	46.0					8																	133826884		2202	4299	6501	133896066	SO:0001819	synonymous_variant	51105	exon10			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.933G>A	8.37:g.133826884G>A			133896066	NM_032205	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	CCDS6367.2																																																																																				0.323	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
PHF20L1	51105	broad.mit.edu	37	8	133851813	133851813	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133851813G>T	ENST00000395386.2	+	18	2672	c.2373G>T	c.(2371-2373)aaG>aaT	p.K791N	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K766N|PHF20L1_ENST00000220847.7_Missense_Mutation_p.K178N|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	791							zinc ion binding (GO:0008270)	p.K765N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACAGCTGAAGATTGGAATAC	0.423																																					p.K791N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2373T	8						.						93.0	84.0	87.0					8																	133851813		1900	4120	6020	133920995	SO:0001583	missense	51105	exon18			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2373G>T	8.37:g.133851813G>T	ENSP00000378784:p.Lys791Asn		133920995	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576664	0.65878	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.57107	0.46;0.42	5.41	2.64	0.31445	.	0.581136	0.16132	N	0.228130	T	0.69477	0.3115	M	0.75777	2.31	0.43632	D	0.996024	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69899	-0.5020	10	0.87932	D	0	-33.1945	10.4863	0.44724	0.2141:0.0:0.7859:0.0	.	766;791	F8W9L8;A8MW92	.;P20L1_HUMAN	N	791;178;766	ENSP00000378784:K791N;ENSP00000378788:K766N	ENSP00000220847:K178N	K	+	3	2	PHF20L1	133920995	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	1.791000	0.38744	0.686000	0.31488	-0.123000	0.14984	AAG		0.423	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
PHF20L1	51105	broad.mit.edu	37	8	133856559	133856559	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133856559C>T	ENST00000395386.2	+	20	3206	c.2907C>T	c.(2905-2907)gtC>gtT	p.V969V	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Silent_p.V944V|PHF20L1_ENST00000220847.7_Silent_p.V356V|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	969							zinc ion binding (GO:0008270)	p.V943V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAAAGAAGTCGATGGTAATT	0.338																																					p.V969V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2907T	8						.						66.0	62.0	63.0					8																	133856559		1844	4090	5934	133925741	SO:0001819	synonymous_variant	51105	exon20			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2907C>T	8.37:g.133856559C>T			133925741	NM_016018	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	CCDS6367.2																																																																																				0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
TG	7038	broad.mit.edu	37	8	133883794	133883794	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133883794G>A	ENST00000220616.4	+	4	516	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	TG_ENST00000377869.1_Missense_Mutation_p.R159Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	159	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R159Q(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCCAAAGCGATGTGAGTTT	0.602																																					p.R159Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	8						.						85.0	63.0	71.0					8																	133883794		2203	4300	6503	133952976	SO:0001583	missense	7038	exon4			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.476G>A	8.37:g.133883794G>A	ENSP00000220616:p.Arg159Gln		133952976	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615912	0.66672	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62941	-0.01;-0.01	5.58	2.72	0.32119	Thyroglobulin type-1 (4);	0.287111	0.25683	N	0.029000	T	0.52141	0.1716	L	0.28776	0.89	0.09310	N	1	D	0.63046	0.992	P	0.53102	0.718	T	0.37820	-0.9689	10	0.29301	T	0.29	.	3.1707	0.06551	0.2604:0.0:0.5417:0.1979	.	159	P01266	THYG_HUMAN	Q	159	ENSP00000367100:R159Q;ENSP00000220616:R159Q	ENSP00000220616:R159Q	R	+	2	0	TG	133952976	0.000000	0.05858	0.015000	0.15790	0.364000	0.29643	0.805000	0.27112	0.667000	0.31107	0.460000	0.39030	CGA		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	133899255	133899255	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133899255G>A	ENST00000220616.4	+	9	1678	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	TG_ENST00000377869.1_Silent_p.K546K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	546					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.K546K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTATGAATAAGCCAACTGTGG	0.448																																					p.K546K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1638A	8						.						69.0	68.0	69.0					8																	133899255		2203	4300	6503	133968437	SO:0001819	synonymous_variant	7038	exon9			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1638G>A	8.37:g.133899255G>A			133968437	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1																																																																																				0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	133900543	133900543	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133900543G>T	ENST00000220616.4	+	10	2531	c.2491G>T	c.(2491-2493)Gat>Tat	p.D831Y	TG_ENST00000377869.1_Missense_Mutation_p.D831Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	831	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.D831Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGCCAGCAAGATGTCTTCCC	0.527																																					p.D831Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2491T	8						.						81.0	80.0	80.0					8																	133900543		2203	4300	6503	133969725	SO:0001583	missense	7038	exon10			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2491G>T	8.37:g.133900543G>T	ENSP00000220616:p.Asp831Tyr		133969725	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693326	0.30052	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63913	-0.07;-0.07	5.8	1.43	0.22495	Thyroglobulin type-1 (2);	1.260580	0.05140	N	0.494003	T	0.42787	0.1218	N	0.08118	0	0.09310	N	1	B	0.29955	0.263	B	0.27262	0.078	T	0.41161	-0.9524	10	0.66056	D	0.02	.	8.0054	0.30321	0.5202:0.0:0.4798:0.0	.	831	P01266	THYG_HUMAN	Y	831	ENSP00000367100:D831Y;ENSP00000220616:D831Y	ENSP00000220616:D831Y	D	+	1	0	TG	133969725	0.596000	0.26866	0.176000	0.23000	0.835000	0.47333	1.068000	0.30629	0.359000	0.24239	0.650000	0.86243	GAT		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DLC1	10395	broad.mit.edu	37	8	13357214	13357214	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:13357214C>T	ENST00000276297.4	-	2	776	c.367G>A	c.(367-369)Gat>Aat	p.D123N	DLC1_ENST00000316609.5_Missense_Mutation_p.D123N|DLC1_ENST00000511869.1_Missense_Mutation_p.D123N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	123					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D123N(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTTTATCATCTGTAAGGCAT	0.428																																					p.D123N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G367A	8						.						182.0	183.0	183.0					8																	13357214		2203	4300	6503	13401585	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.367G>A	8.37:g.13357214C>T	ENSP00000276297:p.Asp123Asn		13401585	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	0.390	-0.923840	0.02377	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.12465	3.62;2.68;2.7	5.03	3.08	0.35506	.	0.307446	0.23591	N	0.046544	T	0.05686	0.0149	N	0.16656	0.425	0.09310	N	1	B;B;B	0.21147	0.002;0.052;0.0	B;B;B	0.15052	0.006;0.012;0.001	T	0.39860	-0.9593	10	0.06757	T	0.87	.	4.3886	0.11328	0.1606:0.5447:0.0:0.2947	.	123;123;123	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	123	ENSP00000276297:D123N;ENSP00000321034:D123N;ENSP00000425878:D123N	ENSP00000276297:D123N	D	-	1	0	DLC1	13401585	0.004000	0.15560	0.744000	0.31058	0.229000	0.25112	0.567000	0.23608	1.467000	0.48044	0.655000	0.94253	GAT		0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TG	7038	broad.mit.edu	37	8	133911103	133911103	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:133911103G>T	ENST00000220616.4	+	14	3318	c.3278G>T	c.(3277-3279)aGa>aTa	p.R1093I	TG_ENST00000377869.1_Missense_Mutation_p.R1093I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1093	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R1093I(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAACAGGCTAGATCCCAAGAA	0.562																																					p.R1093I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3278T	8						.						80.0	68.0	72.0					8																	133911103		2203	4300	6503	133980285	SO:0001583	missense	7038	exon14			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3278G>T	8.37:g.133911103G>T	ENSP00000220616:p.Arg1093Ile		133980285	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.55|11.55	1.671495|1.671495	0.29693|0.29693	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000220616	.|T;T	.|0.63417	.|-0.04;-0.04	5.74|5.74	0.364|0.364	0.16124|0.16124	.|Thyroglobulin type-1 (4);	.|0.662303	.|0.14290	.|N	.|0.328985	T|T	0.45955|0.45955	0.1368|0.1368	N|N	0.22421|0.22421	0.69|0.69	0.20403|0.20403	N|N	0.999903|0.999903	.|B	.|0.23854	.|0.092	.|B	.|0.25614	.|0.062	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.66056	.|D	.|0.02	.|.	9.7565|9.7565	0.40506|0.40506	0.0:0.4467:0.3143:0.239|0.0:0.4467:0.3143:0.239	.|.	.|1093	.|P01266	.|THYG_HUMAN	Y|I	60|1093	.|ENSP00000367100:R1093I;ENSP00000220616:R1093I	.|ENSP00000220616:R1093I	D|R	+|+	1|2	0|0	TG|TG	133980285|133980285	0.007000|0.007000	0.16637|0.16637	0.113000|0.113000	0.21522|0.21522	0.343000|0.343000	0.28985|0.28985	0.035000|0.035000	0.13797|0.13797	0.035000|0.035000	0.15519|0.15519	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	134042147	134042147	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:134042147T>G	ENST00000220616.4	+	41	7158	c.7118T>G	c.(7117-7119)tTt>tGt	p.F2373C	TG_ENST00000519543.1_Missense_Mutation_p.F506C|TG_ENST00000542445.1_Missense_Mutation_p.F743C|TG_ENST00000377869.1_Missense_Mutation_p.F2316C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2373					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F2373C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCCGAGGATTTGGCGGGGAC	0.652																																					p.F2373C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7118G	8						.						48.0	49.0	48.0					8																	134042147		2203	4299	6502	134111329	SO:0001583	missense	7038	exon41			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7118T>G	8.37:g.134042147T>G	ENSP00000220616:p.Phe2373Cys		134111329	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.01|16.01	3.000966|3.000966	0.54254|0.54254	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	D;D;D;D|.	0.91351|.	-2.83;-2.83;-2.83;-2.83|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Carboxylesterase, type B (1);|.	0.136288|.	0.49305|.	D|.	0.000153|.	D|D	0.89058|0.89058	0.6607|0.6607	H|H	0.99011|0.99011	4.4|4.4	0.53005|0.53005	D|D	0.999969|0.999969	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;1.0;0.999|.	D|D	0.93184|0.93184	0.6577|0.6577	10|5	0.87932|.	D|.	0|.	.|.	14.3795|14.3795	0.66902|0.66902	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	506;743;2373|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	C|M	2316;1179;2373;743;506|828;168	ENSP00000367100:F2316C;ENSP00000220616:F2373C;ENSP00000441693:F743C;ENSP00000430430:F506C|.	ENSP00000220616:F2373C|.	F|I	+|+	2|3	0|3	TG|TG	134111329|134111329	1.000000|1.000000	0.71417|0.71417	0.287000|0.287000	0.24848|0.24848	0.093000|0.093000	0.18481|0.18481	7.302000|7.302000	0.78861|0.78861	2.077000|2.077000	0.62373|0.62373	0.459000|0.459000	0.35465|0.35465	TTT|ATT		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
SLA	6503	broad.mit.edu	37	8	134072412	134072412	+	5'UTR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:134072412C>A	ENST00000338087.5	-	0	813				SLA_ENST00000517648.1_Missense_Mutation_p.K15N|TG_ENST00000519543.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.K38N|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.K15N	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor						positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.K38N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCATTTCTTTCTTTTTCCCTG	0.582																																					p.K15N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G45T	8						.						111.0	115.0	114.0					8																	134072412		2203	4300	6503	134141594	SO:0001623	5_prime_UTR_variant	6503	exon2				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.-7G>T	8.37:g.134072412C>A			134141594	NM_001045557	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	5'UTR	SNP	ENST00000338087.5	37	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	3.514	-0.099202	0.07010	.	.	ENSG00000155926	ENST00000427060;ENST00000395352;ENST00000517648	T;T;T	0.77098	-1.06;-1.07;2.4	5.43	-4.59	0.03400	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37150	-0.9718	8	0.18276	T	0.48	.	6.2472	0.20825	0.1035:0.252:0.5065:0.138	.	15	B7Z4J2	.	N	38;15;15	ENSP00000394049:K38N;ENSP00000378759:K15N;ENSP00000428559:K15N	ENSP00000378759:K15N	K	-	3	2	SLA	134141594	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.226000	0.17776	-0.848000	0.04163	-0.300000	0.09419	AAG		0.582	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1		
TG	7038	broad.mit.edu	37	8	134107393	134107393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:134107393G>T	ENST00000220616.4	+	42	7385	c.7345G>T	c.(7345-7347)Gaa>Taa	p.E2449*	SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Nonsense_Mutation_p.E582*|SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000542445.1_Nonsense_Mutation_p.E819*|TG_ENST00000377869.1_Nonsense_Mutation_p.E2392*|SLA_ENST00000524345.1_Intron|SLA_ENST00000395352.3_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2449					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E2449*(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCCAGCCAAGAAGTGGTGTC	0.577																																					p.E2449X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7345T	8						.						167.0	142.0	150.0					8																	134107393		2203	4300	6503	134176575	SO:0001587	stop_gained	7038	exon42			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7345G>T	8.37:g.134107393G>T	ENSP00000220616:p.Glu2449*		134176575	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	16.216117|16.216117	0.99857|0.99857	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.663946|.	0.14924|.	N|.	0.290496|.	.|T	.|0.72534	.|0.3472	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69300	.|-0.5181	.|4	0.39692|.	T|.	0.17|.	.|.	16.144|16.144	0.81551|0.81551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2392;1255;2449;819;582|904	.|.	ENSP00000220616:E2449X|.	E|R	+|+	1|2	0|0	TG|TG	134176575|134176575	0.994000|0.994000	0.37717|0.37717	0.622000|0.622000	0.29159|0.29159	0.752000|0.752000	0.42762|0.42762	5.889000|5.889000	0.69766|0.69766	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
ZFAT	57623	broad.mit.edu	37	8	135533133	135533133	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:135533133T>C	ENST00000377838.3	-	13	3401	c.3227A>G	c.(3226-3228)aAg>aGg	p.K1076R	ZFAT_ENST00000520214.1_Missense_Mutation_p.K1064R|ZFAT_ENST00000520356.1_Missense_Mutation_p.K1064R|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Missense_Mutation_p.K1014R|ZFAT_ENST00000520727.1_Missense_Mutation_p.K1064R|ZFAT_ENST00000429442.2_Missense_Mutation_p.K1064R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1076					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K1076R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TACCTCCCACTTGGGGTCTCC	0.413																																					p.K1014R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3041G	8						.						63.0	59.0	60.0					8																	135533133		1834	4086	5920	135602315	SO:0001583	missense	57623	exon12			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3227A>G	8.37:g.135533133T>C	ENSP00000367069:p.Lys1076Arg		135602315	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141981	0.77775	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.10763	2.95;2.87;2.84;2.86;2.87;2.88	5.53	4.34	0.51931	.	0.057885	0.64402	D	0.000005	T	0.18800	0.0451	L	0.27053	0.805	0.35394	D	0.791037	D;D;P;P	0.69078	0.997;0.976;0.915;0.941	D;P;B;B	0.73380	0.98;0.541;0.313;0.321	T	0.14811	-1.0459	10	0.42905	T	0.14	-26.2261	11.5415	0.50669	0.0:0.0:0.1501:0.8499	.	195;1014;1064;1076	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	R	1064;1064;1064;1076;1064;963;1014	ENSP00000427879:K1064R;ENSP00000427831:K1064R;ENSP00000394501:K1064R;ENSP00000367069:K1076R;ENSP00000428483:K1064R;ENSP00000429091:K1014R	ENSP00000326997:K963R	K	-	2	0	ZFAT	135602315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.867000	0.48428	0.904000	0.36572	0.524000	0.50904	AAG		0.413	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
ZFAT	57623	broad.mit.edu	37	8	135612793	135612793	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:135612793G>A	ENST00000377838.3	-	7	2535	c.2361C>T	c.(2359-2361)cgC>cgT	p.R787R	ZFAT_ENST00000520214.1_Silent_p.R775R|ZFAT_ENST00000520356.1_Silent_p.R775R|ZFAT_ENST00000523399.1_Silent_p.R725R|ZFAT_ENST00000520727.1_Silent_p.R775R|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000429442.2_Silent_p.R775R	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	787					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R775R(1)|p.R787R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAATTACGTGGCGTTTAAGGC	0.428																																					p.R725R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2175T	8						.						148.0	146.0	146.0					8																	135612793		1971	4155	6126	135681975	SO:0001819	synonymous_variant	57623	exon6			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2361C>T	8.37:g.135612793G>A			135681975	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	CCDS47924.1																																																																																				0.428	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
FAM135B	51059	broad.mit.edu	37	8	139158255	139158255	+	Nonsense_Mutation	SNP	C	C	A	rs267601783		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139158255C>A	ENST00000395297.1	-	15	3657	c.3487G>T	c.(3487-3489)Gaa>Taa	p.E1163*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448										HNSCC(54;0.14)																											p.E1163X												.	.	4	Substitution - Nonsense(4)	large_intestine(2)|lung(2)	c.G3487T	8						.						88.0	93.0	92.0					8																	139158255		2203	4300	6503	139227437	SO:0001587	stop_gained	51059	exon15			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3487G>T	8.37:g.139158255C>A	ENSP00000378710:p.Glu1163*		139227437	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	44	11.161224	0.99525	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.81	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7909	15.404	0.74863	0.1401:0.8599:0.0:0.0	.	.	.	.	X	1163	.	ENSP00000378710:E1163X	E	-	1	0	FAM135B	139227437	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.064000	0.71169	1.433000	0.47394	0.655000	0.94253	GAA		0.448	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139165035	139165035	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139165035C>A	ENST00000395297.1	-	13	1853	c.1683G>T	c.(1681-1683)aaG>aaT	p.K561N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	561								p.K561N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGAGGGGTTCTTATTGCTAG	0.498										HNSCC(54;0.14)																											p.K561N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1683T	8						.						97.0	95.0	96.0					8																	139165035		1910	4123	6033	139234217	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1683G>T	8.37:g.139165035C>A	ENSP00000378710:p.Lys561Asn		139234217	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333719	0.60853	.	.	ENSG00000147724	ENST00000395297	T	0.19105	2.17	5.45	3.63	0.41609	.	0.304511	0.36234	N	0.002702	T	0.19765	0.0475	M	0.63428	1.95	0.34727	D	0.72934	P;P;B	0.46142	0.873;0.465;0.028	B;B;B	0.40477	0.33;0.148;0.018	T	0.27536	-1.0071	10	0.33940	T	0.23	-17.4869	7.0029	0.24820	0.0:0.7059:0.1436:0.1505	.	561;561;561	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	561	ENSP00000378710:K561N	ENSP00000276737:K561N	K	-	3	2	FAM135B	139234217	0.083000	0.21467	0.671000	0.29857	0.843000	0.47879	0.296000	0.19083	0.763000	0.33175	0.655000	0.94253	AAG		0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139165251	139165251	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139165251T>G	ENST00000395297.1	-	13	1637	c.1467A>C	c.(1465-1467)caA>caC	p.Q489H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	489								p.Q489H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCATATGATTTTGTGTGGCCA	0.413										HNSCC(54;0.14)																											p.Q489H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1467C	8						.						133.0	125.0	128.0					8																	139165251		1934	4143	6077	139234433	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1467A>C	8.37:g.139165251T>G	ENSP00000378710:p.Gln489His		139234433	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877935	0.51801	.	.	ENSG00000147724	ENST00000395297	T	0.14893	2.47	5.75	-7.73	0.01245	.	1.567240	0.03127	N	0.164586	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	P;P;B	0.45348	0.856;0.763;0.328	B;B;B	0.44163	0.443;0.35;0.135	T	0.34725	-0.9817	10	0.46703	T	0.11	-0.0786	4.1504	0.10235	0.0957:0.388:0.2917:0.2246	.	489;489;489	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	H	489	ENSP00000378710:Q489H	ENSP00000276737:Q489H	Q	-	3	2	FAM135B	139234433	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.943000	0.03917	-0.570000	0.06022	0.533000	0.62120	CAA		0.413	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139165314	139165314	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139165314G>A	ENST00000395297.1	-	13	1574	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	468								p.S468S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATCCATTTGGGATGGTTTTA	0.383										HNSCC(54;0.14)																											p.S468S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1404T	8						.						98.0	92.0	94.0					8																	139165314		1885	4125	6010	139234496	SO:0001819	synonymous_variant	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1404C>T	8.37:g.139165314G>A			139234496	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																				0.383	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139180246	139180246	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139180246A>G	ENST00000395297.1	-	12	1320	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	384								p.Y384H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAGTGAGGTACTCCGAGTTC	0.597										HNSCC(54;0.14)																											p.Y384H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1150C	8						.						110.0	119.0	116.0					8																	139180246		2115	4231	6346	139249428	SO:0001583	missense	51059	exon12			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1150T>C	8.37:g.139180246A>G	ENSP00000378710:p.Tyr384His		139249428	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878770	0.72294	.	.	ENSG00000147724	ENST00000395297	D	0.90676	-2.71	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	M	0.82716	2.605	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.95854	0.8877	10	0.72032	D	0.01	-23.8834	15.014	0.71570	1.0:0.0:0.0:0.0	.	384	Q49AJ0	F135B_HUMAN	H	384	ENSP00000378710:Y384H	ENSP00000276737:Y384H	Y	-	1	0	FAM135B	139249428	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	8.217000	0.89766	2.278000	0.76064	0.533000	0.62120	TAC		0.597	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	broad.mit.edu	37	8	139189659	139189659	+	Missense_Mutation	SNP	C	C	T	rs187739434		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139189659C>T	ENST00000395297.1	-	11	1204	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	345								p.R345Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAAAACCTTCGGACCTGCAG	0.378										HNSCC(54;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		19887	0.0		0.001	False		,,,				2504	0.0				p.R345Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1034A	8						.						90.0	84.0	86.0					8																	139189659		1869	4103	5972	139258841	SO:0001583	missense	51059	exon11			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1034G>A	8.37:g.139189659C>T	ENSP00000378710:p.Arg345Gln		139258841	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.8	4.955134	0.92726	.	.	ENSG00000147724	ENST00000395297	T	0.18174	2.23	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	L	0.60845	1.875	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	T	0.09122	-1.0689	10	0.72032	D	0.01	-5.78	16.1375	0.81497	0.0:1.0:0.0:0.0	.	345	Q49AJ0	F135B_HUMAN	Q	345	ENSP00000378710:R345Q	ENSP00000276737:R345Q	R	-	2	0	FAM135B	139258841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.307000	0.78920	2.674000	0.91012	0.563000	0.77884	CGA		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
COL22A1	169044	broad.mit.edu	37	8	139609183	139609183	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139609183G>A	ENST00000303045.6	-	62	4842	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R1446W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1466	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1466W(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)			TGAATAAGCCGACGCAGGGTT	0.522										HNSCC(7;0.00092)																											p.R1466W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4396T	8						.						155.0	157.0	157.0					8																	139609183		2203	4300	6503	139678365	SO:0001583	missense	169044	exon62			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.4396C>T	8.37:g.139609183G>A	ENSP00000303153:p.Arg1466Trp		139678365	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684634	0.47991	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89939	-2.59;-2.49	4.93	1.53	0.23141	.	0.000000	0.40728	U	0.001032	D	0.92681	0.7674	M	0.70595	2.14	0.46874	D	0.999233	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	D	0.91184	0.4978	10	0.44086	T	0.13	.	12.7493	0.57300	0.0:0.0:0.437:0.563	.	1446;1466	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1466;1446;1159	ENSP00000303153:R1466W;ENSP00000387655:R1446W	ENSP00000303153:R1466W	R	-	1	2	COL22A1	139678365	0.988000	0.35896	0.820000	0.32676	0.976000	0.68499	0.848000	0.27710	0.429000	0.26202	0.467000	0.42956	CGG		0.522	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139696684	139696684	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139696684C>A	ENST00000303045.6	-	39	3442	c.2996G>T	c.(2995-2997)gGa>gTa	p.G999V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G999V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	999	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G999V(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)			TCCTAGGGGTCCAGGGAGTCC	0.498										HNSCC(7;0.00092)																											p.G999V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2996T	8						.						121.0	124.0	123.0					8																	139696684		2203	4300	6503	139765866	SO:0001583	missense	169044	exon39			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.2996G>T	8.37:g.139696684C>A	ENSP00000303153:p.Gly999Val		139765866	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247332	0.22880	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99429	-5.89;-5.77	4.0	4.0	0.46444	.	0.000000	0.47852	U	0.000217	D	0.99680	0.9880	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97524	1.0075	10	0.72032	D	0.01	.	11.4747	0.50291	0.0:1.0:0.0:0.0	.	999;999	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	999;999;712	ENSP00000303153:G999V;ENSP00000387655:G999V	ENSP00000303153:G999V	G	-	2	0	COL22A1	139765866	0.981000	0.34729	0.785000	0.31869	0.296000	0.27459	3.286000	0.51724	2.044000	0.60594	0.448000	0.29417	GGA		0.498	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
COL22A1	169044	broad.mit.edu	37	8	139845356	139845356	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:139845356G>A	ENST00000303045.6	-	5	1217	c.771C>T	c.(769-771)atC>atT	p.I257I	COL22A1_ENST00000435777.1_Silent_p.I257I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	257	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I257I(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)			TCTTCCCCAAGATTTCCTTCA	0.458										HNSCC(7;0.00092)																											p.I257I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C771T	8						.						129.0	106.0	114.0					8																	139845356		2203	4300	6503	139914538	SO:0001819	synonymous_variant	169044	exon5			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.771C>T	8.37:g.139845356G>A			139914538	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.458	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
KCNK9	51305	broad.mit.edu	37	8	140631216	140631216	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:140631216C>T	ENST00000520439.1	-	2	473	c.410G>A	c.(409-411)cGc>cAc	p.R137H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R137H|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	137					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R137H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CAGCAGGTAGCGCACGAAGGT	0.582																																					p.R137H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	8						.						113.0	87.0	96.0					8																	140631216		2203	4300	6503	140700398	SO:0001583	missense	51305	exon2			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.410G>A	8.37:g.140631216C>T	ENSP00000430676:p.Arg137His		140700398	NM_016601	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123684	0.77436	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.24908	1.83;1.83;1.83	5.85	4.87	0.63330	.	0.125201	0.50627	D	0.000103	T	0.36248	0.0960	M	0.64997	1.995	0.35242	D	0.777873	D	0.65815	0.995	P	0.55161	0.77	T	0.45264	-0.9273	10	0.46703	T	0.11	.	7.916	0.29818	0.0:0.8416:0.0:0.1584	.	137	Q9NPC2	KCNK9_HUMAN	H	137	ENSP00000429847:R137H;ENSP00000302166:R137H;ENSP00000430676:R137H	ENSP00000302166:R137H	R	-	2	0	KCNK9	140700398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.924000	0.63418	2.753000	0.94483	0.655000	0.94253	CGC		0.582	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
TRAPPC9	83696	broad.mit.edu	37	8	141449256	141449256	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:141449256C>T	ENST00000438773.2	-	3	758	c.625G>A	c.(625-627)Gtg>Atg	p.V209M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V209M|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V307M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	209					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.V307M(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGGTCCCCCACGTGCTTCCGC	0.512																																					p.V209M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	8						.						100.0	90.0	93.0					8																	141449256		2203	4300	6503	141518438	SO:0001583	missense	83696	exon3			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.625G>A	8.37:g.141449256C>T	ENSP00000405060:p.Val209Met		141518438	NM_001160372	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.77|18.77	3.694144|3.694144	0.68386|0.68386	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75243|0.75243	0.3823|0.3823	L|L	0.54323|0.54323	1.7|1.7	0.43191|0.43191	D|D	0.995022|0.995022	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.74348	.|0.983;0.957;0.968	T|T	0.69873|0.69873	-0.5027|-0.5027	5|9	.|0.25106	.|T	.|0.35	.|.	19.4258|19.4258	0.94741|0.94741	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|209;209;307	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	H|M	61|307;209;209	.|.	.|ENSP00000373978:V209M	R|V	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141518438|141518438	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.480000|0.480000	0.33159|0.33159	5.653000|5.653000	0.67967|0.67967	2.582000|2.582000	0.87167|0.87167	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.512	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	
DENND3	22898	broad.mit.edu	37	8	142185339	142185339	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:142185339C>A	ENST00000262585.2	+	14	2354	c.2076C>A	c.(2074-2076)ttC>ttA	p.F692L	DENND3_ENST00000519811.1_Missense_Mutation_p.F772L|DENND3_ENST00000424248.1_Missense_Mutation_p.F640L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	692					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F692L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAAAGATTTCTACAACTGCT	0.473											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F692L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2076A	8						.						105.0	103.0	104.0					8																	142185339		2203	4300	6503	142254521	SO:0001583	missense	22898	exon14			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2076C>A	8.37:g.142185339C>A	ENSP00000262585:p.Phe692Leu	1669	142254521	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.240373|4.240373	0.79912|0.79912	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.45276|.	1.42;0.9;1.37|.	4.64|4.64	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71048|0.71048	0.3294|0.3294	M|M	0.77103|0.77103	2.36|2.36	0.48632|0.48632	D|D	0.999689|0.999689	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.997|.	T|T	0.70439|0.70439	-0.4871|-0.4871	10|5	0.87932|.	D|.	0|.	-3.9523|-3.9523	9.5416|9.5416	0.39255|0.39255	0.0:0.8265:0.0:0.1735|0.0:0.8265:0.0:0.1735	.|.	772;640;692|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	L|I	692;640;772|697	ENSP00000262585:F692L;ENSP00000410594:F640L;ENSP00000428714:F772L|.	ENSP00000262585:F692L|.	F|L	+|+	3|1	2|2	DENND3|DENND3	142254521|142254521	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	1.695000|1.695000	0.37763|0.37763	1.052000|1.052000	0.40392|0.40392	0.491000|0.491000	0.48974|0.48974	TTC|CTA		0.473	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
DENND3	22898	broad.mit.edu	37	8	142185478	142185478	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:142185478G>A	ENST00000262585.2	+	14	2493	c.2215G>A	c.(2215-2217)Gcc>Acc	p.A739T	DENND3_ENST00000519811.1_Missense_Mutation_p.A819T|DENND3_ENST00000424248.1_Missense_Mutation_p.A687T	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	739					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A739T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCAAGATCGCCATGACCCA	0.522											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A739T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2215A	8						.						129.0	115.0	120.0					8																	142185478		2203	4300	6503	142254660	SO:0001583	missense	22898	exon14			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2215G>A	8.37:g.142185478G>A	ENSP00000262585:p.Ala739Thr	1669	142254660	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.248030|5.248030	0.95305|0.95305	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.19105|.	2.64;2.17;2.62|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.996;1.0;1.0|.	T|T	0.76852|0.76852	-0.2806|-0.2806	10|5	0.66056|.	D|.	0.02|.	-6.7346|-6.7346	18.1709|18.1709	0.89745|0.89745	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	819;687;739|.	E9PF32;A2RUS2-2;A2RUS2|.	.;.;DEND3_HUMAN|.	T|H	739;687;819|743	ENSP00000262585:A739T;ENSP00000410594:A687T;ENSP00000428714:A819T|.	ENSP00000262585:A739T|.	A|R	+|+	1|2	0|0	DENND3|DENND3	142254660|142254660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	9.146000|9.146000	0.94640|0.94640	2.289000|2.289000	0.77006|0.77006	0.491000|0.491000	0.48974|0.48974	GCC|CGC		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
MROH5	389690	broad.mit.edu	37	8	142505582	142505582	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:142505582G>T	ENST00000430863.1	-	0	344					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.A88A(1)									TGAAGCCGGTGGCTAAGGTTG	0.547																																					p.A88A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C264A	8						.						103.0	102.0	103.0					8																	142505582		2161	4270	6431	142574764			389690	exon3					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142505582G>T			142574764	NM_207414		Silent	SNP	ENST00000430863.1	37																																																																																					0.547	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
GML	2765	broad.mit.edu	37	8	143927988	143927988	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:143927988G>T	ENST00000220940.1	+	4	449	c.359G>T	c.(358-360)aGg>aTg	p.R120M		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	120	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.R120M(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AATCTTGAAAGGGACATGTTA	0.443																																					p.R120M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359T	8						.						111.0	108.0	109.0					8																	143927988		2203	4300	6503	143924990	SO:0001583	missense	2765	exon4			D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.359G>T	8.37:g.143927988G>T	ENSP00000220940:p.Arg120Met		143924990	NM_002066	A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	12.33	1.906003	0.33628	.	.	ENSG00000104499	ENST00000220940	T	0.51817	0.69	3.52	-0.415	0.12355	Ly-6 antigen / uPA receptor -like (1);	0.376588	0.19226	N	0.119544	T	0.52980	0.1768	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.43081	-0.9413	10	0.87932	D	0	-29.3109	3.6721	0.08277	0.3289:0.1882:0.4829:0.0	.	120	Q99445	GML_HUMAN	M	120	ENSP00000220940:R120M	ENSP00000220940:R120M	R	+	2	0	GML	143924990	0.254000	0.23992	0.023000	0.16930	0.017000	0.09413	-0.051000	0.11885	-0.099000	0.12263	-0.484000	0.04775	AGG		0.443	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066	
SGCZ	137868	broad.mit.edu	37	8	14412244	14412244	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:14412244A>C	ENST00000382080.1	-	2	946	c.231T>G	c.(229-231)acT>acG	p.T77T	SGCZ_ENST00000421524.2_Silent_p.T64T	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	64					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.T77T(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TACTTACCACAGTGAAATTCA	0.328																																					p.T77T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T231G	8						.						107.0	96.0	100.0					8																	14412244		2203	4300	6503	14456615	SO:0001819	synonymous_variant	137868	exon2			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.231T>G	8.37:g.14412244A>C			14456615	NM_139167	Q6REU0	Silent	SNP	ENST00000382080.1	37	CCDS5992.2																																																																																				0.328	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
TOP1MT	116447	broad.mit.edu	37	8	144400221	144400221	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:144400221C>A	ENST00000329245.4	-	9	1216	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	TOP1MT_ENST00000521193.1_Missense_Mutation_p.K296N|TOP1MT_ENST00000523676.1_Missense_Mutation_p.K296N|TOP1MT_ENST00000519148.1_Missense_Mutation_p.K296N	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	394					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)	p.K394N(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCCGGGGGTCCTTGTTCTCCA	0.567																																					p.K394N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1182T	8						.						71.0	78.0	76.0					8																	144400221		2203	4300	6503	144471596	SO:0001583	missense	116447	exon9			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1182G>T	8.37:g.144400221C>A	ENSP00000328835:p.Lys394Asn		144471596	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430152	0.43122	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	2.63	-3.87	0.04218	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.314508	0.22331	U	0.061466	T	0.74458	0.3719	H	0.97962	4.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	T	0.76958	-0.2766	10	0.87932	D	0	.	10.7322	0.46104	0.0:0.3079:0.0:0.6921	.	189;394	E7ESI1;Q969P6	.;TOP1M_HUMAN	N	394;296;296;296	ENSP00000328835:K394N;ENSP00000428369:K296N;ENSP00000429169:K296N;ENSP00000429181:K296N	ENSP00000328835:K394N	K	-	3	2	TOP1MT	144471596	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	-0.257000	0.08745	-0.998000	0.03446	-0.908000	0.02827	AAG		0.567	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	
PLEC	5339	broad.mit.edu	37	8	144993470	144993470	+	Missense_Mutation	SNP	C	C	T	rs200293573		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:144993470C>T	ENST00000322810.4	-	32	11099	c.10930G>A	c.(10930-10932)Gac>Aac	p.D3644N	PLEC_ENST00000357649.2_Missense_Mutation_p.D3511N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3507N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3485N|PLEC_ENST00000398774.2_Missense_Mutation_p.D3475N|PLEC_ENST00000436759.2_Missense_Mutation_p.D3534N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3493N|PLEC_ENST00000527096.1_Missense_Mutation_p.D3530N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3507N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3644	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D3644N(1)|p.D3534N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGGTGTCGTCGCTGGGGTCC	0.652																																					p.D3511N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10531A	8						.	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4154		0,0,2077	77.0	87.0	84.0		10600,10477,10453,10930,10423,10519,10531,10519	3.9	0.7	8		84	1,8391		0,1,4195	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,1,6272	TT,TC,CC		0.0119,0.0,0.0080	benign,benign,benign,benign,benign,benign,benign,benign	3534/4575,3493/4534,3485/4526,3644/4685,3475/4516,3507/4548,3511/4552,3507/4548	144993470	1,12545	2077	4196	6273	145065458	SO:0001583	missense	5339	exon32			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10930G>A	8.37:g.144993470C>T	ENSP00000323856:p.Asp3644Asn		145065458	NM_201383	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075141	0.20227	0.0	1.19E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	4.79	3.92	0.45320	.	0.078423	0.47852	U	0.000219	T	0.75679	0.3882	M	0.84433	2.695	0.47621	D	0.999472	D;D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.995;0.997;0.997;0.997;0.997	P;P;P;B;P;P;P;P	0.51945	0.614;0.614;0.614;0.41;0.685;0.685;0.685;0.685	T	0.77099	-0.2713	10	0.32370	T	0.25	.	13.0824	0.59121	0.0:0.9217:0.0:0.0783	.	3534;3493;3485;3644;3475;3507;3511;3507	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	3507;3511;3507;3475;3644;3485;3493;3534;3530	ENSP00000344848:D3507N;ENSP00000350277:D3511N;ENSP00000346602:D3507N;ENSP00000381756:D3475N;ENSP00000323856:D3644N;ENSP00000347044:D3485N;ENSP00000348702:D3493N;ENSP00000388180:D3534N;ENSP00000434583:D3530N	ENSP00000323856:D3644N	D	-	1	0	PLEC	145065458	0.998000	0.40836	0.679000	0.29978	0.137000	0.21094	4.651000	0.61447	1.265000	0.44215	-0.395000	0.06472	GAC		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
SLC39A4	55630	broad.mit.edu	37	8	145640359	145640359	+	Splice_Site	SNP	G	G	A	rs185494598		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:145640359G>A	ENST00000301305.3	-	4	908	c.803C>T	c.(802-804)aCg>aTg	p.T268M	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Splice_Site_p.T243M	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	268					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.T268M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCAGCTCACCGTGTCCCACAC	0.672													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17014	0.0		0.0	False		,,,				2504	0.0				p.T268M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	8						.						45.0	48.0	47.0					8																	145640359		2203	4300	6503	145611167	SO:0001630	splice_region_variant	55630	exon4			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.804+1C>T	8.37:g.145640359G>A			145611167	NM_130849	Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	CCDS6424.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.58	3.162310	0.57368	.	.	ENSG00000147804	ENST00000276833;ENST00000301305;ENST00000526658	T;T;T	0.59906	0.23;0.23;0.23	5.3	3.34	0.38264	.	3.229310	0.00875	N	0.002075	T	0.72366	0.3451	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.61800	0.894;0.854	T	0.58725	-0.7586	10	0.66056	D	0.02	-15.1985	7.8933	0.29691	0.0:0.1779:0.638:0.1841	.	268;243	Q6P5W5;A6NDY5	S39A4_HUMAN;.	M	243;268;174	ENSP00000276833:T243M;ENSP00000301305:T268M;ENSP00000434512:T174M	ENSP00000276833:T243M	T	-	2	0	SLC39A4	145611167	0.996000	0.38824	1.000000	0.80357	0.535000	0.34838	2.299000	0.43611	1.218000	0.43458	0.543000	0.68304	ACG		0.672	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1		Missense_Mutation
ZNF251	90987	broad.mit.edu	37	8	145948334	145948334	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:145948334G>A	ENST00000292562.7	-	5	986	c.711C>T	c.(709-711)taC>taT	p.Y237Y	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y194Y(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGCCACATTCGTACGGCTTCT	0.433																																					p.Y237Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	8						.						60.0	65.0	64.0					8																	145948334		2080	4237	6317	145919143	SO:0001819	synonymous_variant	90987	exon5			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.711C>T	8.37:g.145948334G>A			145919143	NM_138367	Q2M219	Silent	SNP	ENST00000292562.7	37	CCDS47944.1																																																																																				0.433	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
ZNF251	90987	broad.mit.edu	37	8	145948443	145948443	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:145948443C>A	ENST00000292562.7	-	5	877	c.602G>T	c.(601-603)aGa>aTa	p.R201I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	201					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.R158I(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGTTTTATTTCTTTGAAGTCT	0.403																																					p.R201I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602T	8						.						89.0	92.0	91.0					8																	145948443		1868	4109	5977	145919252	SO:0001583	missense	90987	exon5			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.602G>T	8.37:g.145948443C>A	ENSP00000292562:p.Arg201Ile		145919252	NM_138367	Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326714	0.60743	.	.	ENSG00000198169	ENST00000292562	T	0.08193	3.12	2.12	2.12	0.27331	.	.	.	.	.	T	0.13586	0.0329	L	0.35644	1.08	0.42899	D	0.994228	D	0.63046	0.992	P	0.62089	0.898	T	0.05178	-1.0901	9	0.52906	T	0.07	.	6.5137	0.22236	0.0:0.8463:0.0:0.1537	.	201	Q9BRH9	ZN251_HUMAN	I	201	ENSP00000292562:R201I	ENSP00000292562:R201I	R	-	2	0	ZNF251	145919252	0.000000	0.05858	0.969000	0.41365	0.987000	0.75469	-0.190000	0.09615	1.466000	0.48025	0.563000	0.77884	AGA		0.403	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
CLN8	2055	broad.mit.edu	37	8	1719650	1719650	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:1719650C>A	ENST00000331222.4	+	2	677	c.430C>A	c.(430-432)Ctt>Att	p.L144I		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	144	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L144I(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CTTTGCCTTTCTTGGGTTTCT	0.478																																					p.L144I	Pancreas(155;338 1942 6138 10888 50612)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C430A	8						.						142.0	144.0	143.0					8																	1719650		2203	4300	6503	1707057	SO:0001583	missense	2055	exon2			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.430C>A	8.37:g.1719650C>A	ENSP00000328182:p.Leu144Ile		1707057	NM_018941	Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	5.702	0.314027	0.10789	.	.	ENSG00000182372	ENST00000331222	D	0.85339	-1.97	5.06	2.28	0.28536	TRAM/LAG1/CLN8 homology domain (3);	0.596654	0.14779	U	0.298906	T	0.81014	0.4735	M	0.65975	2.015	0.09310	N	1	P	0.35793	0.521	B	0.35182	0.197	T	0.68150	-0.5485	9	.	.	.	-11.9042	6.9163	0.24361	0.0:0.6079:0.1594:0.2327	.	144	Q9UBY8	CLN8_HUMAN	I	144	ENSP00000328182:L144I	.	L	+	1	0	CLN8	1707057	0.992000	0.36948	0.023000	0.16930	0.064000	0.16182	1.500000	0.35682	0.166000	0.19597	0.455000	0.32223	CTT		0.478	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941	
ARHGEF10	9639	broad.mit.edu	37	8	1876686	1876686	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:1876686C>T	ENST00000398564.1	+	24	2866	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.R955C|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.R931C|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.R927C|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.R893C			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	956					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R956C(1)|p.R708C(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGTGGAATCTCGCATCCTGTG	0.562																																					p.R931C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2791T	8						.						154.0	144.0	148.0					8																	1876686		2203	4300	6503	1864093	SO:0001583	missense	9639	exon24			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2866C>T	8.37:g.1876686C>T	ENSP00000381571:p.Arg956Cys		1864093	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	C	20.3	3.968642	0.74131	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.07;-0.07	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	L	0.56124	1.755	0.80722	D	1	D;P	0.89917	1.0;0.525	D;B	0.91635	0.999;0.15	T	0.77515	-0.2559	10	0.48119	T	0.1	-43.5395	15.1195	0.72432	0.1421:0.8579:0.0:0.0	.	893;931	O15013-7;O15013-5	.;.	C	931;893;955;956;927;575	ENSP00000340297:R931C;ENSP00000427909:R893C;ENSP00000431012:R955C;ENSP00000381571:R956C;ENSP00000262112:R927C;ENSP00000427768:R575C	ENSP00000262112:R927C	R	+	1	0	ARHGEF10	1864093	0.999000	0.42202	0.409000	0.26459	0.656000	0.38851	4.257000	0.58816	2.590000	0.87494	0.655000	0.94253	CGC		0.562	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
MYOM2	9172	broad.mit.edu	37	8	2020460	2020460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:2020460G>A	ENST00000262113.4	+	9	970	c.829G>A	c.(829-831)Gac>Aac	p.D277N	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	277	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D277N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CACGCACTTCGACGTCCAGTT	0.562																																					p.D277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829A	8						.						101.0	85.0	90.0					8																	2020460		2203	4300	6503	2007867	SO:0001583	missense	9172	exon9				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.829G>A	8.37:g.2020460G>A	ENSP00000262113:p.Asp277Asn		2007867	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023464	0.35701	.	.	ENSG00000036448	ENST00000262113	T	0.50813	0.73	5.13	5.13	0.70059	Immunoglobulin-like (1);	0.135403	0.49916	D	0.000130	T	0.38134	0.1029	L	0.28740	0.885	0.80722	D	1	B	0.29232	0.238	B	0.18871	0.023	T	0.22521	-1.0214	10	0.48119	T	0.1	.	18.5987	0.91239	0.0:0.0:1.0:0.0	.	277	P54296	MYOM2_HUMAN	N	277	ENSP00000262113:D277N	ENSP00000262113:D277N	D	+	1	0	MYOM2	2007867	1.000000	0.71417	0.780000	0.31762	0.358000	0.29455	5.304000	0.65744	2.373000	0.80994	0.655000	0.94253	GAC		0.562	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2820008	2820008	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:2820008C>T	ENST00000520002.1	-	62	10166	c.9611G>A	c.(9610-9612)gGc>gAc	p.G3204D	CSMD1_ENST00000602723.1_Missense_Mutation_p.G3027D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3204D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3203D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3026D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3027D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3204	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G3203D(1)|p.G2932D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGTTGTATGCCGCTCCACGT	0.473																																					p.R3203R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9609A	8						.						65.0	63.0	64.0					8																	2820008		1923	4141	6064	2807415	SO:0001583	missense	64478	exon61					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9611G>A	8.37:g.2820008C>T	ENSP00000430733:p.Gly3204Asp		2807415	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	18.03	3.532377	0.64972	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.57710	0.2072	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.62039	-0.6938	10	0.72032	D	0.01	.	19.6087	0.95589	0.0:1.0:0.0:0.0	.	3204;3204;3026	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	D	3027;3204;3065;3203;3026	ENSP00000383047:G3027D;ENSP00000430733:G3204D;ENSP00000441462:G3203D;ENSP00000446243:G3026D	ENSP00000320445:G3065D	G	-	2	0	CSMD1	2807415	1.000000	0.71417	0.150000	0.22450	0.004000	0.04260	7.638000	0.83328	2.639000	0.89480	0.655000	0.94253	GGC		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2887015	2887015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:2887015C>A	ENST00000520002.1	-	52	8239	c.7684G>T	c.(7684-7686)Gaa>Taa	p.E2562*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E2562*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E2562*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E2561*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E2561*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E2562*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2562	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E2561*(1)|p.E2290*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCTGAGCTTCAATGCTGGGG	0.478																																					p.X2561L												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G7682T	8						.						45.0	43.0	44.0					8																	2887015		1978	4168	6146	2874422	SO:0001587	stop_gained	64478	exon51					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7684G>T	8.37:g.2887015C>A	ENSP00000430733:p.Glu2562*		2874422	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.419515|16.419515	0.99863|0.99863	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	4.88|4.88	4.0|4.0	0.46444|0.46444	.|.	0.260617|.	0.29799|.	N|.	0.011170|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.11794|.	T|.	0.64|.	.|.	15.2383|15.2383	0.73450|0.73450	0.0:0.859:0.141:0.0|0.0:0.859:0.141:0.0	.|.	.|.	.|.	.|.	X|L	2562;2562;2423;2561;2561|1978	.|.	ENSP00000320445:E2423X|.	E|X	-|-	1|2	0|2	CSMD1|CSMD1	2874422|2874422	0.998000|0.998000	0.40836|0.40836	0.018000|0.018000	0.16275|0.16275	0.031000|0.031000	0.12232|0.12232	2.975000|2.975000	0.49281|0.49281	1.272000|1.272000	0.44329|0.44329	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3000022	3000022	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:3000022G>A	ENST00000520002.1	-	42	6764	c.6209C>T	c.(6208-6210)tCg>tTg	p.S2070L	CSMD1_ENST00000602723.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2070L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2070	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.S2069L(1)|p.S1798L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGTTTTGCGAATGGTCACT	0.453																																					p.F2069F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6207T	8						.						70.0	76.0	74.0					8																	3000022		1971	4172	6143	2987429	SO:0001583	missense	64478	exon41					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6209C>T	8.37:g.3000022G>A	ENSP00000430733:p.Ser2070Leu		2987429	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	27.8	4.865823	0.91511	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.24	5.24	0.73138	CUB (5);	0.000000	0.64402	D	0.000005	T	0.55800	0.1943	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	T	0.64499	-0.6393	10	0.87932	D	0	.	19.2056	0.93729	0.0:0.0:1.0:0.0	.	2070;2070;2069	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2070;2070;1931;2069;2069;2069	ENSP00000383047:S2070L;ENSP00000430733:S2070L;ENSP00000441462:S2069L;ENSP00000446243:S2069L;ENSP00000441675:S2069L	ENSP00000320445:S1931L	S	-	2	0	CSMD1	2987429	1.000000	0.71417	0.630000	0.29268	0.555000	0.35460	9.585000	0.98223	2.605000	0.88082	0.591000	0.81541	TCG		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3205575	3205575	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:3205575G>A	ENST00000520002.1	-	23	3971	c.3416C>T	c.(3415-3417)gCc>gTc	p.A1139V	CSMD1_ENST00000602723.1_Missense_Mutation_p.A1139V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1139V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1138V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1138V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1138V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1139V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1139	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A867V(1)|p.A867D(1)|p.A1138D(1)|p.A1138V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCTTGCCGGCTTCTGTTTC	0.383																																					p.S1138S												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C3414T	8						.						67.0	60.0	62.0					8																	3205575		1813	4067	5880	3192982	SO:0001583	missense	64478	exon22					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3416C>T	8.37:g.3205575G>A	ENSP00000430733:p.Ala1139Val		3192982	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	13.79	2.341929	0.41498	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.64	5.64	0.86602	CUB (5);	0.153691	0.45361	D	0.000378	T	0.36386	0.0965	L	0.39633	1.23	0.28185	N	0.928004	D;P;P	0.89917	1.0;0.656;0.614	D;P;P	0.83275	0.996;0.601;0.46	T	0.07158	-1.0787	10	0.54805	T	0.06	.	19.7076	0.96081	0.0:0.0:1.0:0.0	.	1139;1139;1139	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	V	1139;1139;1001;1138;1138;1138	ENSP00000383047:A1139V;ENSP00000430733:A1139V;ENSP00000441462:A1138V;ENSP00000446243:A1138V;ENSP00000441675:A1138V	ENSP00000320445:A1001V	A	-	2	0	CSMD1	3192982	0.994000	0.37717	0.308000	0.25141	0.083000	0.17756	5.045000	0.64220	2.642000	0.89623	0.650000	0.86243	GCC		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3855477	3855477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:3855477C>A	ENST00000520002.1	-	5	1321	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E256*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E256*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E256*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E256*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.E256*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E256*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	256	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.E256*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCCTTCTTCTAGCTGAAAG	0.522																																					p.E256X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G766T	8						.						56.0	57.0	57.0					8																	3855477		2072	4241	6313	3842885	SO:0001587	stop_gained	64478	exon5					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.766G>T	8.37:g.3855477C>A	ENSP00000430733:p.Glu256*		3842885	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	41	8.865694	0.98982	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.54	5.54	0.83059	.	0.000000	0.26711	U	0.022882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-23.2611	18.4741	0.90785	0.0:1.0:0.0:0.0	.	.	.	.	X	256;256;118;256;256;256	.	ENSP00000320445:E118X	E	-	1	0	CSMD1	3842885	1.000000	0.71417	0.953000	0.39169	0.831000	0.47069	7.626000	0.83164	2.600000	0.87896	0.563000	0.77884	GAA		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MFHAS1	9258	broad.mit.edu	37	8	8750004	8750004	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:8750004C>A	ENST00000276282.6	-	1	1151	c.565G>T	c.(565-567)Gat>Tat	p.D189Y		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	189								p.D189Y(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGGTTGTGATCCACGTCCAGG	0.677																																					p.D189Y	Melanoma(103;1201 2045 17515 28966)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565T	8						.						21.0	25.0	24.0					8																	8750004		2197	4294	6491	8787414	SO:0001583	missense	9258	exon1			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.565G>T	8.37:g.8750004C>A	ENSP00000276282:p.Asp189Tyr		8787414	NM_004225	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764070	0.69878	.	.	ENSG00000147324	ENST00000276282	T	0.57752	0.38	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67444	-0.5669	10	0.62326	D	0.03	.	17.9146	0.88945	0.0:1.0:0.0:0.0	.	189	Q9Y4C4	MFHA1_HUMAN	Y	189	ENSP00000276282:D189Y	ENSP00000276282:D189Y	D	-	1	0	MFHAS1	8787414	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.604000	0.82830	2.456000	0.83038	0.563000	0.77884	GAT		0.677	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225	
ERI1	90459	broad.mit.edu	37	8	8869118	8869118	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:8869118A>T	ENST00000523898.1	+	4	1033	c.354A>T	c.(352-354)aaA>aaT	p.K118N	ERI1_ENST00000519292.1_Missense_Mutation_p.K118N|ERI1_ENST00000250263.7_Missense_Mutation_p.K118N			Q8IV48	ERI1_HUMAN	exoribonuclease 1	118					gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.K118N(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TGATGCTGAAAGAGAGCAATT	0.348																																					p.K118N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A354T	8						.						83.0	83.0	83.0					8																	8869118		2203	4300	6503	8906528	SO:0001583	missense	90459	exon3			BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.354A>T	8.37:g.8869118A>T	ENSP00000429615:p.Lys118Asn		8906528	NM_153332	A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.794007	0.50102	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.48201	0.82;0.82;0.82	5.79	2.17	0.27698	.	0.405934	0.29260	N	0.012675	T	0.31451	0.0797	L	0.36672	1.1	0.44587	D	0.997553	B	0.26577	0.153	B	0.19148	0.024	T	0.07121	-1.0789	10	0.38643	T	0.18	-16.6596	6.1455	0.20283	0.4844:0.0:0.5156:0.0	.	118	Q8IV48	ERI1_HUMAN	N	118	ENSP00000429615:K118N;ENSP00000250263:K118N;ENSP00000430190:K118N	ENSP00000250263:K118N	K	+	3	2	ERI1	8906528	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	1.788000	0.38714	0.476000	0.27440	0.451000	0.29950	AAA		0.348	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332	
TUSC3	7991	broad.mit.edu	37	8	15480697	15480697	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:15480697A>C	ENST00000503731.1	+	2	395	c.247A>C	c.(247-249)Aac>Cac	p.N83H	TUSC3_ENST00000382020.4_Missense_Mutation_p.N83H|TUSC3_ENST00000506802.1_Missense_Mutation_p.N83H|TUSC3_ENST00000509380.1_Missense_Mutation_p.N83H|TUSC3_ENST00000503191.1_3'UTR	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	83	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.N83H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACCACCTCGAAACTATTCCAT	0.373																																					p.N83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A247C	8						.						83.0	85.0	85.0					8																	15480697		2203	4300	6503	15525068	SO:0001583	missense	7991	exon2			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.247A>C	8.37:g.15480697A>C	ENSP00000424544:p.Asn83His		15525068	NM_178234	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670154	0.88348	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.59	5.59	0.84812	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.039879	0.85682	D	0.000000	T	0.70081	0.3183	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.991;0.998;0.994;0.999;0.998;0.998	T	0.76258	-0.3025	10	0.66056	D	0.02	-18.1985	15.2531	0.73564	1.0:0.0:0.0:0.0	.	83;83;83;83;83;83	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	H	83	ENSP00000371450:N83H;ENSP00000425777:N83H;ENSP00000423426:N83H;ENSP00000424544:N83H	ENSP00000221167:N83H	N	+	1	0	TUSC3	15525068	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.263000	0.75096	0.528000	0.53228	AAC		0.373	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
FGF20	26281	broad.mit.edu	37	8	16850811	16850811	+	Missense_Mutation	SNP	C	C	T	rs201317229		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:16850811C>T	ENST00000180166.5	-	3	554	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	136					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)		p.E136K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AAGATGCATTCGGAAGTAAGT	0.328																																					p.E136K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	8						.	C	LYS/GLU	0,4406		0,0,2203	116.0	121.0	120.0		406	5.8	1.0	8		120	2,8598	1.2+/-3.3	0,2,4298	no	missense	FGF20	NM_019851.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	136/212	16850811	2,13004	2203	4300	6503	16895182	SO:0001583	missense	26281	exon3			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.406G>A	8.37:g.16850811C>T	ENSP00000180166:p.Glu136Lys		16895182	NM_019851	B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	37	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.018103|5.018103	0.93404|0.93404	0.0|0.0	2.33E-4|2.33E-4	ENSG00000078579|ENSG00000078579	ENST00000180166|ENST00000519941	T|.	0.74632|.	-0.86|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86083|0.86083	0.5848|0.5848	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74674|.	0.984|.	D|D	0.87025|0.87025	0.2131|0.2131	10|5	0.87932|.	D|.	0|.	.|.	20.5471|20.5471	0.99284|0.99284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	136|.	Q9NP95|.	FGF20_HUMAN|.	K|Q	136|37	ENSP00000180166:E136K|.	ENSP00000180166:E136K|.	E|R	-|-	1|2	0|0	FGF20|FGF20	16895182|16895182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.328	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
ZDHHC2	51201	broad.mit.edu	37	8	17063200	17063200	+	Missense_Mutation	SNP	C	C	A	rs368763365		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17063200C>A	ENST00000262096.8	+	7	1208	c.513C>A	c.(511-513)ttC>ttA	p.F171L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	171					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F171L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATTATAAGTTCTTTCTCCTTT	0.333																																					p.F171L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C513A	8						.	C	LEU/PHE	0,3662		0,0,1831	273.0	265.0	268.0		513	2.5	1.0	8		268	1,8151		0,1,4075	no	missense	ZDHHC2	NM_016353.4	22	0,1,5906	AA,AC,CC		0.0123,0.0,0.0085	possibly-damaging	171/368	17063200	1,11813	1831	4076	5907	17107571	SO:0001583	missense	51201	exon7			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.513C>A	8.37:g.17063200C>A	ENSP00000262096:p.Phe171Leu		17107571	NM_016353	D3DSP5	Missense_Mutation	SNP	ENST00000262096.8	37	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923710	0.73213	0.0	1.23E-4	ENSG00000104219	ENST00000262096;ENST00000522184	T;T	0.24723	1.84;1.84	5.72	2.46	0.29980	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	M	0.77712	2.385	0.58432	D	0.999998	P	0.52463	0.953	P	0.54174	0.744	T	0.23976	-1.0173	10	0.87932	D	0	-3.422	6.9507	0.24544	0.0:0.3837:0.0:0.6163	.	171	Q9UIJ5	ZDHC2_HUMAN	L	171;126	ENSP00000262096:F171L;ENSP00000430317:F126L	ENSP00000262096:F171L	F	+	3	2	ZDHHC2	17107571	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.059000	0.49947	0.707000	0.31934	0.563000	0.77884	TTC		0.333	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	
ZDHHC2	51201	broad.mit.edu	37	8	17063278	17063278	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17063278T>G	ENST00000262096.8	+	7	1286	c.591T>G	c.(589-591)ttT>ttG	p.F197L		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	197					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F197L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TTATCAAATTTTGGACAGTAA	0.303																																					p.F197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T591G	8						.						165.0	157.0	159.0					8																	17063278		1806	4064	5870	17107649	SO:0001583	missense	51201	exon7			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.591T>G	8.37:g.17063278T>G	ENSP00000262096:p.Phe197Leu		17107649	NM_016353	D3DSP5	Missense_Mutation	SNP	ENST00000262096.8	37	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.496131	0.85069	.	.	ENSG00000104219	ENST00000262096	T	0.22134	1.97	5.5	0.484	0.16825	.	0.098186	0.64402	D	0.000001	T	0.32194	0.0821	L	0.41236	1.265	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.02263	-1.1186	10	0.66056	D	0.02	-4.0304	10.4127	0.44303	0.0:0.335:0.0:0.665	.	197	Q9UIJ5	ZDHC2_HUMAN	L	197	ENSP00000262096:F197L	ENSP00000262096:F197L	F	+	3	2	ZDHHC2	17107649	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.222000	0.17699	0.145000	0.18977	0.460000	0.39030	TTT		0.303	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	
MTUS1	57509	broad.mit.edu	37	8	17510988	17510988	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17510988T>G	ENST00000262102.6	-	11	3458	c.3234A>C	c.(3232-3234)gaA>gaC	p.E1078D	MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000400046.1_Missense_Mutation_p.E150D|MTUS1_ENST00000381861.3_Missense_Mutation_p.E325D|MTUS1_ENST00000544260.1_Missense_Mutation_p.E223D|MTUS1_ENST00000519263.1_Missense_Mutation_p.E1024D|MTUS1_ENST00000297488.6_Missense_Mutation_p.E244D|MTUS1_ENST00000381869.3_Missense_Mutation_p.E1024D	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1078					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E325D(1)|p.E244D(1)|p.E1078D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCTTTTCTATTTCATGGCCTT	0.343																																					p.E1024D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A3072C	8						.						66.0	60.0	62.0					8																	17510988		1797	4073	5870	17555268	SO:0001583	missense	57509	exon10			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3234A>C	8.37:g.17510988T>G	ENSP00000262102:p.Glu1078Asp		17555268	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551627	0.65311	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.36157	1.34;1.27;1.96;1.27;1.34;1.34;1.34	5.32	-0.0713	0.13744	.	0.212382	0.49305	D	0.000144	T	0.36413	0.0966	M	0.68593	2.085	0.42186	D	0.991709	P;P;B;B	0.36768	0.569;0.569;0.039;0.257	B;B;B;B	0.43413	0.353;0.419;0.047;0.147	T	0.15954	-1.0419	10	0.49607	T	0.09	-27.9494	5.9782	0.19393	0.0:0.2793:0.1278:0.5929	.	1024;1078;325;244	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	D	1024;223;150;244;325;1078;1024	ENSP00000371293:E1024D;ENSP00000445738:E223D;ENSP00000382921:E150D;ENSP00000297488:E244D;ENSP00000371285:E325D;ENSP00000262102:E1078D;ENSP00000430167:E1024D	ENSP00000262102:E1078D	E	-	3	2	MTUS1	17555268	0.518000	0.26234	0.899000	0.35326	0.939000	0.58152	0.656000	0.24948	0.380000	0.24823	0.383000	0.25322	GAA		0.343	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17573355	17573355	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17573355C>A	ENST00000262102.6	-	5	2729	c.2505G>T	c.(2503-2505)caG>caT	p.Q835H	MTUS1_ENST00000381861.3_Missense_Mutation_p.Q82H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000519263.1_Missense_Mutation_p.Q781H|MTUS1_ENST00000381869.3_Missense_Mutation_p.Q781H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	835					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q835H(1)|p.Q82H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGAACCATTCTGAAATGCTG	0.383																																					p.Q781H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2343T	8						.						150.0	145.0	147.0					8																	17573355		1831	4086	5917	17617635	SO:0001583	missense	57509	exon4			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2505G>T	8.37:g.17573355C>A	ENSP00000262102:p.Gln835His		17617635	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300105	0.60195	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.36520	3.08;2.35;1.25;3.08	4.85	-8.68	0.00859	.	0.825208	0.11400	N	0.567975	T	0.49712	0.1573	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;P	0.67548	0.935;0.952;0.904	T	0.71663	-0.4525	10	0.72032	D	0.01	-15.9992	16.4248	0.83810	0.0:0.7331:0.0951:0.1718	.	781;835;82	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	H	781;82;835;781	ENSP00000371293:Q781H;ENSP00000371285:Q82H;ENSP00000262102:Q835H;ENSP00000430167:Q781H	ENSP00000262102:Q835H	Q	-	3	2	MTUS1	17617635	0.137000	0.22531	0.894000	0.35097	0.948000	0.59901	-1.339000	0.02652	-1.224000	0.02581	-1.021000	0.02439	CAG		0.383	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17611493	17611493	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17611493C>A	ENST00000262102.6	-	2	2048	c.1824G>T	c.(1822-1824)gtG>gtT	p.V608V	MTUS1_ENST00000381862.3_Silent_p.V608V|MTUS1_ENST00000519263.1_Silent_p.V608V|MTUS1_ENST00000381869.3_Silent_p.V608V	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	608					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V608V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GATTCGATTTCACGGCAGATG	0.433																																					p.V608V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1824T	8						.						177.0	165.0	169.0					8																	17611493		1898	4117	6015	17655773	SO:0001819	synonymous_variant	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1824G>T	8.37:g.17611493C>A			17655773	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17612008	17612008	+	Missense_Mutation	SNP	T	T	G	rs374391254		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17612008T>G	ENST00000262102.6	-	2	1533	c.1309A>C	c.(1309-1311)Aaa>Caa	p.K437Q	MTUS1_ENST00000381862.3_Missense_Mutation_p.K437Q|MTUS1_ENST00000519263.1_Missense_Mutation_p.K437Q|MTUS1_ENST00000381869.3_Missense_Mutation_p.K437Q	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	437					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K437Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGGTTACTTTTGTGGGTTCT	0.448																																					p.K437Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1309C	8						.						130.0	125.0	126.0					8																	17612008		1890	4116	6006	17656288	SO:0001583	missense	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1309A>C	8.37:g.17612008T>G	ENSP00000262102:p.Lys437Gln		17656288	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	4.692	0.128735	0.08981	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.17213	3.31;3.32;3.31;2.29	5.0	-1.95	0.07548	.	0.453433	0.21105	N	0.080088	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B;B	0.17852	0.024;0.01;0.01	B;B;B	0.18871	0.023;0.023;0.023	T	0.24297	-1.0164	10	0.39692	T	0.17	-3.2763	5.9483	0.19232	0.0:0.2687:0.2286:0.5027	.	437;437;437	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	Q	437	ENSP00000371293:K437Q;ENSP00000262102:K437Q;ENSP00000430167:K437Q;ENSP00000371286:K437Q	ENSP00000262102:K437Q	K	-	1	0	MTUS1	17656288	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.028000	0.13644	-0.389000	0.07786	-0.274000	0.10170	AAA		0.448	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
MTUS1	57509	broad.mit.edu	37	8	17613105	17613105	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17613105G>T	ENST00000262102.6	-	2	436	c.212C>A	c.(211-213)tCt>tAt	p.S71Y	MTUS1_ENST00000381862.3_Missense_Mutation_p.S71Y|MTUS1_ENST00000519263.1_Missense_Mutation_p.S71Y|MTUS1_ENST00000381869.3_Missense_Mutation_p.S71Y	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	71					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S71Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGGCTTAAAGAAATATTTTC	0.388																																					p.S71Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C212A	8						.						130.0	122.0	124.0					8																	17613105		1855	4100	5955	17657385	SO:0001583	missense	57509	exon2			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.212C>A	8.37:g.17613105G>T	ENSP00000262102:p.Ser71Tyr		17657385	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.910797	0.52439	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.26373	2.7;2.74;2.7;1.74	3.98	3.98	0.46160	.	1.154810	0.06452	N	0.727851	T	0.37812	0.1017	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.99	D;D;D	0.66979	0.948;0.912;0.912	T	0.36040	-0.9764	10	0.87932	D	0	-0.5216	9.896	0.41318	0.0997:0.0:0.9003:0.0	.	71;71;71	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	Y	71	ENSP00000371293:S71Y;ENSP00000262102:S71Y;ENSP00000430167:S71Y;ENSP00000371286:S71Y	ENSP00000262102:S71Y	S	-	2	0	MTUS1	17657385	0.415000	0.25416	0.027000	0.17364	0.147000	0.21601	1.089000	0.30890	2.495000	0.84180	0.558000	0.71614	TCT		0.388	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
PCM1	5108	broad.mit.edu	37	8	17813059	17813059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17813059G>T	ENST00000519253.1	+	10	1620	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	PCM1_ENST00000524226.1_Nonsense_Mutation_p.E457*|PCM1_ENST00000325083.8_Nonsense_Mutation_p.E457*|PCM1_ENST00000518537.1_Nonsense_Mutation_p.E496*			Q15154	PCM1_HUMAN	pericentriolar material 1	457					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E457*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTCAATGGAGAATCCAATAG	0.463			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.E457X			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1369T	8						.						92.0	86.0	88.0					8																	17813059		1930	4132	6062	17857339	SO:0001587	stop_gained	5108	exon10				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1369G>T	8.37:g.17813059G>T	ENSP00000431099:p.Glu457*		17857339	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	27.3	4.820691	0.90873	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	.	.	.	4.88	4.88	0.63580	.	0.412335	0.30219	N	0.010125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6479	18.9274	0.92550	0.0:0.0:1.0:0.0	.	.	.	.	X	457;496;496;496;457;457	.	ENSP00000327077:E457X	E	+	1	0	PCM1	17857339	1.000000	0.71417	0.996000	0.52242	0.537000	0.34900	7.037000	0.76531	2.645000	0.89757	0.655000	0.94253	GAA		0.463	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17814153	17814153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17814153G>T	ENST00000519253.1	+	11	1764	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	PCM1_ENST00000524226.1_Nonsense_Mutation_p.E505*|PCM1_ENST00000325083.8_Nonsense_Mutation_p.E505*			Q15154	PCM1_HUMAN	pericentriolar material 1	505					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E505*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGAGCTAAGAGAATTAGTTCA	0.308			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.E505X			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1513T	8						.						54.0	52.0	53.0					8																	17814153		1832	4091	5923	17858433	SO:0001587	stop_gained	5108	exon11				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1513G>T	8.37:g.17814153G>T	ENSP00000431099:p.Glu505*		17858433	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.229246	0.97394	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-19.1497	18.4789	0.90804	0.0:0.0:1.0:0.0	.	.	.	.	X	505;544;505;505	.	ENSP00000327077:E505X	E	+	1	0	PCM1	17858433	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.751000	0.98889	2.529000	0.85273	0.650000	0.86243	GAA		0.308	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17823673	17823673	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17823673G>T	ENST00000519253.1	+	19	3272	c.3021G>T	c.(3019-3021)aaG>aaT	p.K1007N	PCM1_ENST00000325083.8_Missense_Mutation_p.K1007N|PCM1_ENST00000524226.1_Missense_Mutation_p.K1008N			Q15154	PCM1_HUMAN	pericentriolar material 1	1007					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.K1007N(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCAGCTAAAGAAACAGCTTG	0.358			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.K1007N			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3021T	8						.						102.0	100.0	101.0					8																	17823673		1861	4102	5963	17867953	SO:0001583	missense	5108	exon19				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3021G>T	8.37:g.17823673G>T	ENSP00000431099:p.Lys1007Asn		17867953	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	19.71	3.877577	0.72294	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.20200	2.09;2.09;2.09	5.61	3.82	0.43975	.	0.091151	0.85682	D	0.000000	T	0.20007	0.0481	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49783	0.928;0.928;0.928	P;P;P	0.49922	0.626;0.626;0.626	T	0.01480	-1.1344	10	0.48119	T	0.1	-18.6511	8.5869	0.33664	0.2883:0.0:0.7117:0.0	.	1007;1008;1007	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	N	1007;1007;1008	ENSP00000327077:K1007N;ENSP00000431099:K1007N;ENSP00000430521:K1008N	ENSP00000327077:K1007N	K	+	3	2	PCM1	17867953	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.151000	0.58105	0.858000	0.35431	0.655000	0.94253	AAG		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17829995	17829995	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17829995G>A	ENST00000519253.1	+	23	3993	c.3742G>A	c.(3742-3744)Gga>Aga	p.G1248R	PCM1_ENST00000524226.1_Missense_Mutation_p.G1249R|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000325083.8_Missense_Mutation_p.G1248R			Q15154	PCM1_HUMAN	pericentriolar material 1	1248					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.G1248R(1)|p.G1248*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGATACAAACGGAAGAAGACG	0.368			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.G1248R			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G3742A	8						.						100.0	94.0	96.0					8																	17829995		1856	4097	5953	17874275	SO:0001583	missense	5108	exon23				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3742G>A	8.37:g.17829995G>A	ENSP00000431099:p.Gly1248Arg		17874275	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.470773	0.00167	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.04758	3.8;3.8;3.56	4.46	0.659	0.17861	.	0.483859	0.26535	N	0.023826	T	0.01222	0.0040	N	0.00926	-1.1	0.48571	D	0.999679	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.49916	-0.8888	10	0.17832	T	0.49	-0.4574	1.4089	0.02287	0.4419:0.2698:0.1575:0.1308	.	110;1248;1249;1248	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	R	1248;1248;1249	ENSP00000327077:G1248R;ENSP00000431099:G1248R;ENSP00000430521:G1249R	ENSP00000327077:G1248R	G	+	1	0	PCM1	17874275	0.117000	0.22190	0.093000	0.20910	0.076000	0.17211	0.201000	0.17276	0.014000	0.14944	0.313000	0.20887	GGA		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17843510	17843510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17843510G>T	ENST00000519253.1	+	26	4575	c.4324G>T	c.(4324-4326)Gaa>Taa	p.E1442*	PCM1_ENST00000524226.1_Nonsense_Mutation_p.E1388*|PCM1_ENST00000327578.8_Nonsense_Mutation_p.E141*|PCM1_ENST00000325083.8_Nonsense_Mutation_p.E1442*			Q15154	PCM1_HUMAN	pericentriolar material 1	1442	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.E1442*(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGAAAAAGGAGAAAATGTAAA	0.328			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.E1442X			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4324T	8						.						71.0	67.0	69.0					8																	17843510		1833	4069	5902	17887790	SO:0001587	stop_gained	5108	exon26				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.4324G>T	8.37:g.17843510G>T	ENSP00000431099:p.Glu1442*		17887790	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	ENST00000519253.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.613438|7.613438	0.98390|0.98390	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000522275|ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578	.|.	.|.	.|.	4.5|4.5	2.7|2.7	0.31948|0.31948	.|.	0.738380|0.738380	0.13794|0.13794	N|N	0.362277|0.362277	T|.	0.40297|.	0.1111|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.46803|.	-0.9165|.	4|.	.|0.30854	.|T	.|0.27	-3.3058|-3.3058	6.0453|6.0453	0.19755|0.19755	0.1585:0.0:0.6911:0.1504|0.1585:0.0:0.6911:0.1504	.|.	.|.	.|.	.|.	D|X	181|1442;1442;1388;141	.|.	.|ENSP00000327077:E1442X	E|E	+|+	3|1	2|0	PCM1|PCM1	17887790|17887790	0.999000|0.999000	0.42202|0.42202	0.154000|0.154000	0.22540|0.22540	0.697000|0.697000	0.40408|0.40408	5.140000|5.140000	0.64807|0.64807	0.628000|0.628000	0.30357|0.30357	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.328	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
PCM1	5108	broad.mit.edu	37	8	17872095	17872095	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17872095G>T	ENST00000519253.1	+	36	5814	c.5563G>T	c.(5563-5565)Gac>Tac	p.D1855Y	PCM1_ENST00000524226.1_Intron|PCM1_ENST00000327578.8_Missense_Mutation_p.D562Y|PCM1_ENST00000325083.8_Missense_Mutation_p.D1863Y			Q15154	PCM1_HUMAN	pericentriolar material 1	1863				PLEREATSKNDQ -> HWNEKPLVKMTK (in Ref. 1; AAA60120). {ECO:0000305}.	centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.D1863Y(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GATGACAGATGACCAAAATAA	0.343			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.D1863Y			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5587T	8						.						81.0	76.0	77.0					8																	17872095		1842	4090	5932	17916375	SO:0001583	missense	5108	exon36				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5563G>T	8.37:g.17872095G>T	ENSP00000431099:p.Asp1855Tyr		17916375	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.87|16.87	3.240848|3.240848	0.58995|0.58995	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000327578|ENST00000522275	T;T;T|.	0.20332|.	3.45;3.45;2.08|.	5.32|5.32	3.54|3.54	0.40534|0.40534	.|.	.|.	.|.	.|.	.|.	T|T	0.51143|0.51143	0.1657|0.1657	L|L	0.34521|0.34521	1.04|1.04	0.38660|0.38660	D|D	0.952069|0.952069	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.993;1.0|.	D;D;D;D;P;D|.	0.87578|.	0.998;0.998;0.998;0.998;0.891;0.998|.	T|T	0.48570|0.48570	-0.9024|-0.9024	9|5	0.87932|.	D|.	0|.	1.9891|1.9891	10.3989|10.3989	0.44218|0.44218	0.1501:0.0:0.8499:0.0|0.1501:0.0:0.8499:0.0	.|.	1855;1863;662;1855;1808;1863|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;Q15154|.	.;.;.;.;.;PCM1_HUMAN|.	Y|I	1863;1855;562|602	ENSP00000327077:D1863Y;ENSP00000431099:D1855Y;ENSP00000328332:D562Y|.	ENSP00000327077:D1863Y|.	D|M	+|+	1|3	0|0	PCM1|PCM1	17916375|17916375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.409000|1.409000	0.34680|0.34680	0.945000|0.945000	0.37605|0.37605	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.343	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
ASAH1	427	broad.mit.edu	37	8	17915088	17915088	+	Silent	SNP	G	G	A	rs375983141		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17915088G>A	ENST00000262097.6	-	14	1454	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	ASAH1_ENST00000417108.2_Silent_p.F291F|ASAH1_ENST00000381733.4_Silent_p.F397F|ASAH1_ENST00000520781.1_Silent_p.F356F|ASAH1_ENST00000314146.10_Silent_p.F375F	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	381					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)	p.F397F(1)|p.F381F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GGTAAGTTTCGAATTGACCTT	0.438																																					p.F397F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1191T	8						.	G	,,	0,4406		0,0,2203	113.0	97.0	102.0		1125,1191,1143	3.1	0.1	8		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ASAH1	NM_001127505.1,NM_004315.4,NM_177924.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	375/390,397/412,381/396	17915088	1,13005	2203	4300	6503	17959368	SO:0001819	synonymous_variant	427	exon14			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.1143C>T	8.37:g.17915088G>A			17959368	NM_004315	E9PDS0|Q6W898|Q96AS2	Silent	SNP	ENST00000262097.6	37	CCDS6006.1																																																																																				0.438	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315	
PSD3	23362	broad.mit.edu	37	8	18725290	18725290	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:18725290C>A	ENST00000327040.8	-	4	1630	c.1528G>T	c.(1528-1530)Gat>Tat	p.D510Y	PSD3_ENST00000440756.2_Missense_Mutation_p.D510Y|PSD3_ENST00000523619.1_Missense_Mutation_p.D445Y	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	510					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D510Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATGCCACCATCTGCAGACACA	0.527																																					p.D510Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1528T	8						.						188.0	187.0	187.0					8																	18725290		2136	4246	6382	18769570	SO:0001583	missense	23362	exon4			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1528G>T	8.37:g.18725290C>A	ENSP00000324127:p.Asp510Tyr		18769570	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160888	0.57368	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.13420	2.6;2.6;2.59	5.28	5.28	0.74379	.	0.229124	0.30185	N	0.010204	T	0.13756	0.0333	L	0.29908	0.895	0.38696	D	0.952882	P	0.44344	0.833	B	0.41271	0.352	T	0.02909	-1.1095	10	0.87932	D	0	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	510	E9KL50	.	Y	510;510;445	ENSP00000324127:D510Y;ENSP00000401704:D510Y;ENSP00000430640:D445Y	ENSP00000324127:D510Y	D	-	1	0	PSD3	18769570	0.996000	0.38824	0.886000	0.34754	0.843000	0.47879	3.722000	0.54948	2.637000	0.89404	0.585000	0.79938	GAT		0.527	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310	
PSD3	23362	broad.mit.edu	37	8	18729413	18729413	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:18729413C>A	ENST00000327040.8	-	3	1063	c.961G>T	c.(961-963)Gat>Tat	p.D321Y	PSD3_ENST00000440756.2_Missense_Mutation_p.D321Y|PSD3_ENST00000523619.1_Missense_Mutation_p.D256Y	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	321					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D321Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTCTCAAAATCTATAGGATGC	0.493																																					p.D321Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961T	8						.						156.0	161.0	159.0					8																	18729413		2034	4191	6225	18773693	SO:0001583	missense	23362	exon3			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.961G>T	8.37:g.18729413C>A	ENSP00000324127:p.Asp321Tyr		18773693	NM_015310	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	4.469	0.086862	0.08583	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.14766	2.5;2.49;2.48	5.78	3.69	0.42338	.	1.489460	0.03961	N	0.290042	T	0.13628	0.0330	L	0.27053	0.805	0.09310	N	1	P	0.39576	0.679	B	0.41723	0.365	T	0.25676	-1.0125	10	0.48119	T	0.1	.	6.0582	0.19822	0.0:0.6953:0.1789:0.1258	.	321	E9KL50	.	Y	321;321;256	ENSP00000324127:D321Y;ENSP00000401704:D321Y;ENSP00000430640:D256Y	ENSP00000324127:D321Y	D	-	1	0	PSD3	18773693	0.003000	0.15002	0.000000	0.03702	0.016000	0.09150	1.669000	0.37492	0.566000	0.29273	0.655000	0.94253	GAT		0.493	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310	
SH2D4A	63898	broad.mit.edu	37	8	19231124	19231124	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:19231124G>A	ENST00000265807.3	+	8	1412	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SH2D4A_ENST00000518040.1_Missense_Mutation_p.R289Q|SH2D4A_ENST00000519207.1_Missense_Mutation_p.R334Q	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	334					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.R334Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTACCACTTCGAGCGGGCTAC	0.502																																					p.R289Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G866A	8						.						90.0	69.0	76.0					8																	19231124		2203	4300	6503	19275404	SO:0001583	missense	63898	exon7			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1001G>A	8.37:g.19231124G>A	ENSP00000265807:p.Arg334Gln		19275404	NM_001174160	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668107	0.67814	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.21031	2.03;2.03;2.03	5.99	5.11	0.69529	.	0.427284	0.21398	N	0.075191	T	0.43678	0.1258	M	0.75447	2.3	0.37667	D	0.922987	D;D	0.89917	1.0;1.0	D;D	0.67231	0.925;0.95	T	0.51560	-0.8690	10	0.62326	D	0.03	.	10.9292	0.47207	0.0851:0.0:0.9149:0.0	.	289;334	B4DDR1;Q9H788	.;SH24A_HUMAN	Q	334;289;334	ENSP00000265807:R334Q;ENSP00000429482:R289Q;ENSP00000428684:R334Q	ENSP00000265807:R334Q	R	+	2	0	SH2D4A	19275404	1.000000	0.71417	0.725000	0.30721	0.261000	0.26267	3.611000	0.54132	1.533000	0.49186	0.655000	0.94253	CGA		0.502	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
SLC18A1	6570	broad.mit.edu	37	8	20005552	20005552	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:20005552G>T	ENST00000276373.5	-	13	1442	c.1176C>A	c.(1174-1176)ctC>ctA	p.L392L	SLC18A1_ENST00000265808.7_Silent_p.L360L|SLC18A1_ENST00000519026.1_Silent_p.L360L|SLC18A1_ENST00000437980.1_Silent_p.L392L|SLC18A1_ENST00000440926.1_Silent_p.L392L|SLC18A1_ENST00000381608.4_Silent_p.L392L	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	392			L -> V (in dbSNP:rs17092104).		monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.L392L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TGGGGCCAATGAGACCAAAAA	0.502																																					p.L392L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1176A	8						.						80.0	69.0	73.0					8																	20005552		2203	4300	6503	20049832	SO:0001819	synonymous_variant	6570	exon13				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1176C>A	8.37:g.20005552G>T			20049832	NM_003053	E9PDJ5|Q9BRE4	Silent	SNP	ENST00000276373.5	37	CCDS6013.1																																																																																				0.502	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
LZTS1	11178	broad.mit.edu	37	8	20110323	20110323	+	Silent	SNP	G	G	A	rs139017329		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:20110323G>A	ENST00000381569.1	-	3	1476	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	LZTS1_ENST00000265801.6_Silent_p.F373F|LZTS1_ENST00000522290.1_Silent_p.F373F			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	373					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F373F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCGCGGGGCCGAAGCTGGTCT	0.647																																					p.F373F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119T	8						.	G		3,4403		0,3,2200	33.0	35.0	35.0		1119	-8.3	0.7	8	dbSNP_134	35	1,8599		0,1,4299	no	coding-synonymous	LZTS1	NM_021020.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		373/597	20110323	4,13002	2203	4300	6503	20154603	SO:0001819	synonymous_variant	11178	exon2			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1119C>T	8.37:g.20110323G>A			20154603	NM_021020	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	CCDS6015.1																																																																																				0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
LZTS1	11178	broad.mit.edu	37	8	20112507	20112507	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:20112507G>A	ENST00000381569.1	-	2	543	c.186C>T	c.(184-186)agC>agT	p.S62S	LZTS1_ENST00000265801.6_Silent_p.S62S|LZTS1_ENST00000522290.1_Silent_p.S62S			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	62					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S62S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAAGTCTTCGCTCTTGCCCA	0.597																																					p.S62S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	8						.						98.0	91.0	93.0					8																	20112507		2203	4300	6503	20156787	SO:0001819	synonymous_variant	11178	exon1			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.186C>T	8.37:g.20112507G>A			20156787	NM_021020	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	CCDS6015.1																																																																																				0.597	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020	
DMTN	2039	broad.mit.edu	37	8	21927802	21927802	+	Silent	SNP	C	C	T	rs148314902	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:21927802C>T	ENST00000523266.1	+	8	1023	c.561C>T	c.(559-561)atC>atT	p.I187I	DMTN_ENST00000381470.3_Silent_p.I187I|DMTN_ENST00000265800.5_Silent_p.I187I|DMTN_ENST00000517600.1_Silent_p.I147I|DMTN_ENST00000443491.2_Silent_p.I162I|DMTN_ENST00000519907.1_Silent_p.I187I|DMTN_ENST00000432128.1_Silent_p.I187I|DMTN_ENST00000415253.1_Silent_p.I187I|DMTN_ENST00000358242.3_Silent_p.I187I|DMTN_ENST00000523782.2_Silent_p.I162I	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	187					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)	p.I187I(1)									CAGCCAAAATCGAAACCGACT	0.597																																					p.I187I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	8						.	C	,,,,,	4,4402	8.1+/-20.4	0,4,2199	94.0	95.0	94.0		561,561,561,561,486,561	-5.3	0.9	8	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EPB49	NM_001114135.2,NM_001114136.1,NM_001114137.1,NM_001114138.1,NM_001114139.1,NM_001978.2	,,,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,,,	187/406,187/406,187/384,187/384,162/359,187/406	21927802	4,13002	2203	4300	6503	21983748	SO:0001819	synonymous_variant	2039	exon8			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.561C>T	8.37:g.21927802C>T			21983748	NM_001114138	A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Silent	SNP	ENST00000523266.1	37	CCDS6020.1																																																																																				0.597	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978	
PIWIL2	55124	broad.mit.edu	37	8	22138714	22138714	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22138714C>T	ENST00000454009.2	+	3	789	c.280C>T	c.(280-282)Cca>Tca	p.P94S	PIWIL2_ENST00000521356.1_Missense_Mutation_p.P94S|PIWIL2_ENST00000356766.6_Missense_Mutation_p.P94S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	94					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.P94S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGAAATGCTTCCATCAGGTAT	0.408																																					p.P94S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	8						.						73.0	72.0	72.0					8																	22138714		2203	4300	6503	22194659	SO:0001583	missense	55124	exon3			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.280C>T	8.37:g.22138714C>T	ENSP00000406956:p.Pro94Ser		22194659	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360692	0.24598	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04454	3.65;3.62;3.65	5.69	-1.88	0.07713	.	1.015470	0.07868	N	0.967381	T	0.03220	0.0094	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.47433	-0.9118	10	0.59425	D	0.04	.	0.6919	0.00893	0.1608:0.2509:0.2268:0.3615	.	94;94	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	94	ENSP00000349208:P94S;ENSP00000428267:P94S;ENSP00000406956:P94S	ENSP00000349208:P94S	P	+	1	0	PIWIL2	22194659	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.014000	0.13333	-0.203000	0.10251	-0.150000	0.13652	CCA		0.408	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
PIWIL2	55124	broad.mit.edu	37	8	22161708	22161708	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22161708C>A	ENST00000454009.2	+	11	1865	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	PIWIL2_ENST00000521356.1_Missense_Mutation_p.F452L|PIWIL2_ENST00000356766.6_Missense_Mutation_p.F452L	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	452	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.F452L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGATCACATTCTTGGAATACT	0.453																																					p.F452L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1356A	8						.						156.0	132.0	140.0					8																	22161708		2203	4300	6503	22217653	SO:0001583	missense	55124	exon11			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1356C>A	8.37:g.22161708C>A	ENSP00000406956:p.Phe452Leu		22217653	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098293	0.76870	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15139	2.45;2.45;2.45	5.87	3.05	0.35203	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.73319	2.225	0.80722	D	1	D;D	0.59767	0.986;0.969	P;P	0.59889	0.865;0.811	T	0.02070	-1.1219	10	0.44086	T	0.13	-20.1399	10.439	0.44452	0.0:0.7773:0.0:0.2227	.	452;452	E7ECA4;Q8TC59	.;PIWL2_HUMAN	L	452	ENSP00000349208:F452L;ENSP00000428267:F452L;ENSP00000406956:F452L	ENSP00000349208:F452L	F	+	3	2	PIWIL2	22217653	0.894000	0.30519	1.000000	0.80357	0.983000	0.72400	0.292000	0.19011	0.448000	0.26722	0.655000	0.94253	TTC		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
PPP3CC	5533	broad.mit.edu	37	8	22368602	22368602	+	Missense_Mutation	SNP	G	G	A	rs61756434	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22368602G>A	ENST00000240139.5	+	5	815	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	PPP3CC_ENST00000289963.8_Missense_Mutation_p.R163Q|PPP3CC_ENST00000397775.3_Missense_Mutation_p.R163Q|PPP3CC_ENST00000518852.1_Missense_Mutation_p.R163Q	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	163					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R163Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTGTTAGGTCGAATCAAATAT	0.398													G|||	28	0.00559105	0.0197	0.0029	5008	,	,		18702	0.0		0.0	False		,,,				2504	0.0				p.R163Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	8						.	G	GLN/ARG	77,4329	68.7+/-106.4	0,77,2126	178.0	160.0	166.0		488	4.1	1.0	8	dbSNP_129	166	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PPP3CC	NM_005605.4	43	0,78,6425	AA,AG,GG		0.0116,1.7476,0.5997	possibly-damaging	163/513	22368602	78,12928	2203	4300	6503	22424547	SO:0001583	missense	5533	exon5				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.488G>A	8.37:g.22368602G>A	ENSP00000240139:p.Arg163Gln		22424547	NM_005605	B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	CCDS34859.1	7|7	0.003205128205128205|0.003205128205128205	6|6	0.012195121951219513|0.012195121951219513	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.44|14.44	2.536496|2.536496	0.45176|0.45176	0.017476|0.017476	1.16E-4|1.16E-4	ENSG00000120910|ENSG00000120910	ENST00000522034;ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.05649	.|3.41;3.41;3.41;3.41	5.91|5.91	4.1|4.1	0.47936|0.47936	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.189068	.|0.45606	.|N	.|0.000348	T|T	0.01254|0.01254	0.0041|0.0041	N|N	0.04508|0.04508	-0.205|-0.205	0.37229|0.37229	D|D	0.905619|0.905619	.|B;B;B;B	.|0.19445	.|0.036;0.012;0.003;0.006	.|B;B;B;B	.|0.13407	.|0.009;0.005;0.009;0.009	T|T	0.49943|0.49943	-0.8885|-0.8885	5|10	.|0.19590	.|T	.|0.45	-1.2201|-1.2201	6.4732|6.4732	0.22020|0.22020	0.1498:0.0:0.7018:0.1484|0.1498:0.0:0.7018:0.1484	rs61756434|rs61756434	.|163;163;163;163	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	K|Q	13;40|163	.|ENSP00000429379:R163Q;ENSP00000240139:R163Q;ENSP00000289963:R163Q;ENSP00000380878:R163Q	.|ENSP00000240139:R163Q	E|R	+|+	1|2	0|0	PPP3CC|PPP3CC	22424547|22424547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.098000|3.098000	0.50259|0.50259	0.805000|0.805000	0.34159|0.34159	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.398	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	
PPP3CC	5533	broad.mit.edu	37	8	22389769	22389769	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22389769G>A	ENST00000240139.5	+	11	1500	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	PPP3CC_ENST00000289963.8_Silent_p.R391R|PPP3CC_ENST00000397775.3_Silent_p.R400R	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	391					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R391R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AGATCATCAGGAATAAGATCA	0.383																																					p.R391R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1173A	8						.						154.0	143.0	147.0					8																	22389769		2203	4300	6503	22445714	SO:0001819	synonymous_variant	5533	exon11				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1173G>A	8.37:g.22389769G>A			22445714	NM_005605	B4DRT5|Q9BSS6|Q9H4M5	Silent	SNP	ENST00000240139.5	37	CCDS34859.1																																																																																				0.383	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1	NM_005605	
CCAR2	57805	broad.mit.edu	37	8	22470548	22470548	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22470548G>T	ENST00000308511.4	+	8	852	c.603G>T	c.(601-603)aaG>aaT	p.K201N	CCAR2_ENST00000389279.3_Missense_Mutation_p.K201N|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	201					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.K201N(1)									ATGACTCCAAGAAACGCAAAC	0.478																																					p.K201N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G603T	8						.						112.0	94.0	100.0					8																	22470548		2203	4300	6503	22526493	SO:0001583	missense	57805	exon8			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.603G>T	8.37:g.22470548G>T	ENSP00000310670:p.Lys201Asn		22526493	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693734	0.88735	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000522599	T;T;T	0.46819	1.43;1.43;0.86	5.87	5.87	0.94306	.	0.126709	0.52532	D	0.000080	T	0.46288	0.1385	N	0.08118	0	0.80722	D	1	D	0.62365	0.991	P	0.58013	0.831	T	0.53837	-0.8382	10	0.62326	D	0.03	-39.3796	17.4969	0.87720	0.0:0.0:1.0:0.0	.	201	Q8N163	K1967_HUMAN	N	201;201;19	ENSP00000310670:K201N;ENSP00000373930:K201N;ENSP00000429739:K19N	ENSP00000310670:K201N	K	+	3	2	KIAA1967	22526493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	2.941000	0.99782	0.655000	0.94253	AAG		0.478	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
RHOBTB2	23221	broad.mit.edu	37	8	22864340	22864340	+	Silent	SNP	C	C	T	rs370461878		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22864340C>T	ENST00000251822.6	+	5	1119	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RHOBTB2_ENST00000519685.1_Silent_p.F216F|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Silent_p.F201F	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	194	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.F194F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGCCCAGTTCGGCATCAAGG	0.612																																					p.F216F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	8						.	C	,,	0,4406		0,0,2203	100.0	92.0	95.0		648,603,582	-4.9	1.0	8		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	RHOBTB2	NM_001160036.1,NM_001160037.1,NM_015178.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	216/750,201/735,194/728	22864340	2,13004	2203	4300	6503	22920285	SO:0001819	synonymous_variant	23221	exon7			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.582C>T	8.37:g.22864340C>T			22920285	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	ENST00000251822.6	37	CCDS6034.1																																																																																				0.612	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
RHOBTB2	23221	broad.mit.edu	37	8	22864634	22864634	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22864634C>A	ENST00000251822.6	+	5	1413	c.876C>A	c.(874-876)ttC>ttA	p.F292L	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.F314L|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.F299L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	292	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.F292L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCTCCAAGTTCTATGACCTGT	0.637																																					p.F314L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C942A	8						.						95.0	93.0	94.0					8																	22864634		2203	4300	6503	22920579	SO:0001583	missense	23221	exon7			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.876C>A	8.37:g.22864634C>A	ENSP00000251822:p.Phe292Leu		22920579	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445769	0.63178	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.56776	0.44;0.44;0.44	5.34	4.46	0.54185	BTB/POZ-like (2);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	M	0.71036	2.16	0.54753	D	0.999989	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.67964	-0.5534	10	0.59425	D	0.04	.	7.2551	0.26171	0.0:0.7426:0.0:0.2574	.	299;292;314	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	L	314;299;292	ENSP00000427926:F314L;ENSP00000429141:F299L;ENSP00000251822:F292L	ENSP00000251822:F292L	F	+	3	2	RHOBTB2	22920579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.378000	0.34328	1.224000	0.43551	0.655000	0.94253	TTC		0.637	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
TNFRSF10B	8795	broad.mit.edu	37	8	22884762	22884762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22884762C>A	ENST00000276431.4	-	7	1104	c.820G>T	c.(820-822)Gag>Tag	p.E274*	TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.E245*|TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.E94*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	274					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.E274*(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTCACGATCTCATTGAGGACA	0.562																																					p.E274X	GBM(94;1064 1342 1839 21060 42553)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G820T	8						.						91.0	85.0	87.0					8																	22884762		2203	4300	6503	22940707	SO:0001587	stop_gained	8795	exon7			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.820G>T	8.37:g.22884762C>A	ENSP00000276431:p.Glu274*		22940707	NM_003842	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Nonsense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	17.13	3.310220	0.60414	.	.	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	.	.	.	2.28	-0.993	0.10228	.	7739.210000	0.00166	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	4.4657	0.11687	0.0:0.3901:0.4575:0.1524	.	.	.	.	X	274;245;94	.	ENSP00000276431:E274X	E	-	1	0	TNFRSF10B	22940707	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.358000	0.07641	-0.259000	0.09432	-0.282000	0.10007	GAG		0.562	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
TNFRSF10B	8795	broad.mit.edu	37	8	22886063	22886063	+	Missense_Mutation	SNP	C	C	T	rs139403599		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22886063C>T	ENST00000276431.4	-	5	813	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E177K|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E26K	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	177					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.E177K(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TGGACACATTCGATGTCACTC	0.572																																					p.E177K	GBM(94;1064 1342 1839 21060 42553)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	8						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	157.0	138.0	144.0		529,529	-6.3	0.0	8	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TNFRSF10B	NM_003842.4,NM_147187.2	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	177/441,177/412	22886063	1,13005	2203	4300	6503	22942008	SO:0001583	missense	8795	exon5			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.529G>A	8.37:g.22886063C>T	ENSP00000276431:p.Glu177Lys		22942008	NM_003842	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	1.187	-0.636445	0.03557	0.0	1.16E-4	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	T;T;T	0.29655	1.56;1.56;1.56	4.41	-6.27	0.02026	TNFR/CD27/30/40/95 cysteine-rich region (3);	1.121670	0.07117	N	0.843293	T	0.07908	0.0198	N	0.02345	-0.59	0.09310	N	1	B;B;B;B	0.16802	0.009;0.004;0.011;0.019	B;B;B;B	0.06405	0.001;0.0;0.002;0.001	T	0.37056	-0.9722	10	0.02654	T	1	.	5.697	0.17861	0.0:0.267:0.42:0.313	.	26;177;177;177	B7Z588;B5BU36;O14763;O14763-2	.;.;TR10B_HUMAN;.	K	177;177;26	ENSP00000276431:E177K;ENSP00000317859:E177K;ENSP00000443386:E26K	ENSP00000276431:E177K	E	-	1	0	TNFRSF10B	22942008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.429000	0.06982	-0.593000	0.05844	-1.254000	0.01491	GAA		0.572	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
TNFRSF10B	8795	broad.mit.edu	37	8	22887181	22887181	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:22887181C>T	ENST00000276431.4	-	4	702	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E140K|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	140					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)	p.E140K(1)		NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GTGCCTTCTTCGCACTGACAC	0.557																																					p.E140K	GBM(94;1064 1342 1839 21060 42553)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	8						.						99.0	75.0	83.0					8																	22887181		2203	4300	6503	22943126	SO:0001583	missense	8795	exon4			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.418G>A	8.37:g.22887181C>T	ENSP00000276431:p.Glu140Lys		22943126	NM_003842	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	c	0.204	-1.041859	0.01997	.	.	ENSG00000120889	ENST00000276431;ENST00000347739	T;D	0.81821	-1.4;-1.54	3.93	1.5	0.22942	TNFR/CD27/30/40/95 cysteine-rich region (3);	0.202418	0.40640	N	0.001050	T	0.54663	0.1872	N	0.12746	0.255	0.09310	N	0.999995	B;B;B	0.25563	0.129;0.129;0.102	B;B;B	0.17098	0.011;0.017;0.01	T	0.45789	-0.9237	10	0.02654	T	1	.	7.3877	0.26893	0.0:0.1243:0.0:0.8757	.	140;140;140	B5BU36;O14763;O14763-2	.;TR10B_HUMAN;.	K	140	ENSP00000276431:E140K;ENSP00000317859:E140K	ENSP00000276431:E140K	E	-	1	0	TNFRSF10B	22943126	0.421000	0.25465	0.005000	0.12908	0.003000	0.03518	0.173000	0.16724	0.201000	0.20466	-1.084000	0.02203	GAA		0.557	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
TNFRSF10D	8793	broad.mit.edu	37	8	23002047	23002047	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:23002047G>T	ENST00000312584.3	-	7	964	c.870C>A	c.(868-870)gtC>gtA	p.V290V		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	290					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.V290V(2)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGCTCAGAGACCTGGGTGG	0.577																																					p.V290V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C870A	8						.						98.0	91.0	93.0					8																	23002047		2203	4300	6503	23057992	SO:0001819	synonymous_variant	8793	exon7			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.870C>A	8.37:g.23002047G>T			23057992	NM_003840	B2R8W0|Q9Y6Q4	Silent	SNP	ENST00000312584.3	37	CCDS6038.1																																																																																				0.577	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1		
LOXL2	4017	broad.mit.edu	37	8	23198598	23198598	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:23198598A>C	ENST00000389131.3	-	4	1019	c.650T>G	c.(649-651)aTc>aGc	p.I217S	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	217	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.I217S(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTTGTCACAGATCTGCTTCCA	0.557																																					p.I217S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T650G	8						.						202.0	158.0	173.0					8																	23198598		2203	4300	6503	23254543	SO:0001583	missense	4017	exon4			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.650T>G	8.37:g.23198598A>C	ENSP00000373783:p.Ile217Ser		23254543	NM_002318	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.762170	0.89932	.	.	ENSG00000134013	ENST00000389131	T	0.64085	-0.08	5.68	5.68	0.88126	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.250952	0.46145	D	0.000302	T	0.82051	0.4953	M	0.90309	3.105	0.58432	D	0.999999	P	0.47106	0.89	D	0.66979	0.948	D	0.85385	0.1122	10	0.87932	D	0	.	13.3028	0.60334	1.0:0.0:0.0:0.0	.	217	Q9Y4K0	LOXL2_HUMAN	S	217	ENSP00000373783:I217S	ENSP00000373783:I217S	I	-	2	0	LOXL2	23254543	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.229000	0.95273	2.156000	0.67533	0.533000	0.62120	ATC		0.557	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1		
ADAM28	10863	broad.mit.edu	37	8	24157544	24157544	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:24157544G>T	ENST00000265769.4	+	2	214	c.104G>T	c.(103-105)aGa>aTa	p.R35I	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.R35I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	35					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TATCCTATAAGACTTCATCCA	0.368																																					p.R35I	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104T	8						.						100.0	106.0	104.0					8																	24157544		2203	4300	6503	24213489	SO:0001583	missense	10863	exon2			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.104G>T	8.37:g.24157544G>T	ENSP00000265769:p.Arg35Ile		24213489	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486345	0.44147	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.07908	3.15;3.15	4.31	3.43	0.39272	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.22666	0.0547	M	0.76574	2.34	0.80722	D	1	D;P	0.71674	0.998;0.753	D;P	0.68483	0.958;0.511	T	0.00276	-1.1855	9	0.51188	T	0.08	.	7.4033	0.26977	0.1154:0.0:0.8846:0.0	.	35;35	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	I	35	ENSP00000265769:R35I;ENSP00000393699:R35I	ENSP00000265769:R35I	R	+	2	0	ADAM28	24213489	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	1.630000	0.37081	2.393000	0.81446	0.313000	0.20887	AGA		0.368	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADAM28	10863	broad.mit.edu	37	8	24181448	24181448	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:24181448G>T	ENST00000265769.4	+	9	932	c.822G>T	c.(820-822)gaG>gaT	p.E274D	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E21D|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.E41D|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E274D	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E274D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCACCTTGGAGAATTTTTCTA	0.383																																					p.E274D	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G822T	8						.						112.0	114.0	113.0					8																	24181448		2203	4299	6502	24237393	SO:0001583	missense	10863	exon9			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.822G>T	8.37:g.24181448G>T	ENSP00000265769:p.Glu274Asp		24237393	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	4.884	0.164349	0.09287	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.41	1.03	0.20045	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.07188	0.0182	N	0.13198	0.31	0.26859	N	0.967994	B;D;B	0.54047	0.1;0.964;0.03	B;P;B	0.54856	0.06;0.762;0.022	T	0.25502	-1.0130	9	0.11485	T	0.65	.	5.2422	0.15477	0.4612:0.3506:0.1882:0.0	.	41;274;274	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	D	274;21;41;274	ENSP00000265769:E274D;ENSP00000380770:E21D;ENSP00000443743:E41D;ENSP00000393699:E274D	ENSP00000265769:E274D	E	+	3	2	ADAM28	24237393	0.982000	0.34865	0.998000	0.56505	0.905000	0.53344	0.131000	0.15870	-0.009000	0.14296	-0.269000	0.10298	GAG		0.383	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:24342814G>A	ENST00000175238.6	+	10	983	c.900G>A	c.(898-900)gtG>gtA	p.V300V	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V72V|ADAM7_ENST00000380789.1_Silent_p.V300V|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	300	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V300V(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353																																					p.V300V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	8						.						153.0	147.0	149.0					8																	24342814		2203	4300	6503	24398704	SO:0001819	synonymous_variant	8756	exon10			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.900G>A	8.37:g.24342814G>A			24398704	NM_003817	A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	CCDS6045.1																																																																																				0.353	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
ADAM7	8756	broad.mit.edu	37	8	24346751	24346751	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:24346751C>A	ENST00000175238.6	+	12	1254	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.L163I|ADAM7_ENST00000380789.1_Missense_Mutation_p.L391I|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L391I(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACATGCATGCTCAACATTCC	0.398																																					p.L391I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171A	8						.						156.0	131.0	140.0					8																	24346751		2203	4300	6503	24402641	SO:0001583	missense	8756	exon12			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1171C>A	8.37:g.24346751C>A	ENSP00000175238:p.Leu391Ile		24402641	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422186	0.43020	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.33654	1.4;1.4;1.4	5.74	-5.17	0.02849	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.856720	0.03110	N	0.162370	T	0.37732	0.1014	M	0.73319	2.225	0.09310	N	1	P;P	0.43578	0.811;0.811	P;P	0.45660	0.489;0.489	T	0.42310	-0.9459	10	0.27785	T	0.31	.	3.6903	0.08343	0.2057:0.5327:0.1026:0.159	.	163;391	E5RK87;Q9H2U9	.;ADAM7_HUMAN	I	391;391;163;206	ENSP00000175238:L391I;ENSP00000370166:L391I;ENSP00000430400:L163I	ENSP00000175238:L391I	L	+	1	0	ADAM7	24402641	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.650000	0.05378	-1.099000	0.03034	-0.878000	0.02970	CTC		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
NEFM	4741	broad.mit.edu	37	8	24773148	24773148	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:24773148C>T	ENST00000221166.5	+	2	1893	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	NEFM_ENST00000518131.1_Missense_Mutation_p.R371W|NEFM_ENST00000437366.2_Missense_Mutation_p.R371W|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_5'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	371	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.R371W(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAATGAGCTTCGGGGCACAAA	0.507																																					p.R371W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1111T	8						.						142.0	131.0	134.0					8																	24773148		2203	4300	6503	24829053	SO:0001583	missense	4741	exon2			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1111C>T	8.37:g.24773148C>T	ENSP00000221166:p.Arg371Trp		24829053	NM_005382	B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872270	0.91587	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89552	-2.53;-2.53;-2.53	5.36	4.42	0.53409	Filament (1);	0.000000	0.40469	N	0.001099	D	0.94351	0.8184	M	0.86953	2.85	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.94596	0.7792	10	0.87932	D	0	.	11.4449	0.50116	0.3592:0.6408:0.0:0.0	.	371;371	E7EMV2;P07197	.;NFM_HUMAN	W	371	ENSP00000221166:R371W;ENSP00000427872:R371W;ENSP00000410137:R371W	ENSP00000221166:R371W	R	+	1	2	NEFM	24829053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.350000	0.59392	2.508000	0.84585	0.591000	0.81541	CGG		0.507	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
DOCK5	80005	broad.mit.edu	37	8	25230131	25230131	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:25230131C>T	ENST00000276440.7	+	35	3625	c.3581C>T	c.(3580-3582)gCc>gTc	p.A1194V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1194					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1194V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAGGTCTTCGCCCTCCTGGTC	0.537																																					p.A1194V	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3581T	8						.						81.0	73.0	76.0					8																	25230131		2203	4300	6503	25286048	SO:0001583	missense	80005	exon35				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3581C>T	8.37:g.25230131C>T	ENSP00000276440:p.Ala1194Val		25286048	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	2.537	-0.307127	0.05458	.	.	ENSG00000147459	ENST00000276440	T	0.34072	1.38	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	N	0.00666	-1.275	0.58432	D	0.999995	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.34054	-0.9844	10	0.02654	T	1	.	19.5183	0.95174	0.0:1.0:0.0:0.0	.	1184;969;1194	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	V	1194	ENSP00000276440:A1194V	ENSP00000276440:A1194V	A	+	2	0	DOCK5	25286048	0.957000	0.32711	0.123000	0.21794	0.151000	0.21798	2.220000	0.42908	2.633000	0.89246	0.655000	0.94253	GCC		0.537	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
PPP2R2A	5520	broad.mit.edu	37	8	26227731	26227731	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:26227731G>A	ENST00000380737.3	+	10	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	PPP2R2A_ENST00000315985.7_Silent_p.S392S	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	382					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S382S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGCATCGCGGGAAAACA	0.418																																					p.S392S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1176A	8						.						79.0	76.0	77.0					8																	26227731		2203	4300	6503	26283648	SO:0001819	synonymous_variant	5520	exon10			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1146G>A	8.37:g.26227731G>A			26283648	NM_001177591	B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	CCDS34867.1																																																																																				0.418	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717	
DPYSL2	1808	broad.mit.edu	37	8	26505251	26505251	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:26505251G>A	ENST00000311151.5	+	11	1628	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	DPYSL2_ENST00000523027.1_Missense_Mutation_p.D370N|DPYSL2_ENST00000521913.1_Missense_Mutation_p.D370N	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	406					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.D406N(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGTGGGATCCGATGCCGACCT	0.537																																					p.D406N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	8						.						99.0	90.0	93.0					8																	26505251		2203	4300	6503	26561168	SO:0001583	missense	1808	exon11			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1216G>A	8.37:g.26505251G>A	ENSP00000309539:p.Asp406Asn		26561168	NM_001386	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	36	5.688418	0.96784	.	.	ENSG00000092964	ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.22	5.22	0.72569	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96753	0.8940	M	0.93594	3.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.97240	0.9890	10	0.87932	D	0	-22.4912	19.3296	0.94280	0.0:0.0:1.0:0.0	.	406;462	Q16555;Q59GB4	DPYL2_HUMAN;.	N	45;370;406;406;370	ENSP00000427985:D370N;ENSP00000309539:D406N;ENSP00000428909:D406N;ENSP00000431117:D370N	ENSP00000309539:D406N	D	+	1	0	DPYSL2	26561168	1.000000	0.71417	0.948000	0.38648	0.948000	0.59901	9.601000	0.98297	2.873000	0.98535	0.563000	0.77884	GAT		0.537	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386	
STMN4	81551	broad.mit.edu	37	8	27099209	27099209	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27099209C>A	ENST00000265770.7	-	4	246				STMN4_ENST00000522908.1_Nonsense_Mutation_p.E59*|STMN4_ENST00000519614.1_Intron|STMN4_ENST00000523048.1_Nonsense_Mutation_p.E59*|STMN4_ENST00000519997.1_Intron|STMN4_ENST00000350889.4_Nonsense_Mutation_p.E59*			Q9H169	STMN4_HUMAN	stathmin-like 4						regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)		p.E59*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	GCTCTTCTTTCTCTCCAGTCA	0.607																																					p.E59X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G175T	8						.						133.0	109.0	117.0					8																	27099209		2203	4300	6503	27155126	SO:0001627	intron_variant	81551	exon4				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.110-430G>T	8.37:g.27099209C>A			27155126	NM_030795	B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Nonsense_Mutation	SNP	ENST00000265770.7	37		.	.	.	.	.	.	.	.	.	.	C	19.28	3.796327	0.70567	.	.	ENSG00000015592	ENST00000350889;ENST00000523048;ENST00000522908	.	.	.	4.8	3.92	0.45320	.	0.146705	0.31566	N	0.007434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-12.6319	9.6492	0.39886	0.0:0.9006:0.0:0.0994	.	.	.	.	X	59	.	ENSP00000342538:E59X	E	-	1	0	STMN4	27155126	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	2.138000	0.42140	1.333000	0.45449	0.462000	0.41574	GAA		0.607	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795	
PTK2B	2185	broad.mit.edu	37	8	27312077	27312077	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27312077C>T	ENST00000397501.1	+	35	3571	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000420218.2_Silent_p.I879I|PTK2B_ENST00000517339.1_Silent_p.I879I|PTK2B_ENST00000544172.1_Silent_p.I921I|PTK2B_ENST00000338238.4_Silent_p.I879I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	921	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.I921I(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GGAAGCTCATCGGGAGCGTGG	0.597																																					p.I921I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2763T	8						.						89.0	68.0	75.0					8																	27312077		2203	4300	6503	27367994	SO:0001819	synonymous_variant	2185	exon30			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2763C>T	8.37:g.27312077C>T			27367994	NM_173176	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	CCDS6057.1																																																																																				0.597	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
CHRNA2	1135	broad.mit.edu	37	8	27321066	27321066	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27321066C>T	ENST00000520933.2	-	5	1047	c.894G>A	c.(892-894)acG>acA	p.T298T	CHRNA2_ENST00000240132.2_Silent_p.T283T|CHRNA2_ENST00000407991.1_Silent_p.T298T			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	298					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.T298T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AAATGCACAGCGTGATCTTCT	0.587																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	8						.						225.0	171.0	190.0					8																	27321066		2203	4300	6503	27376983	SO:0001819	synonymous_variant	1135	exon6			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.894G>A	8.37:g.27321066C>T			27376983	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Silent	SNP	ENST00000520933.2	37	CCDS6059.1																																																																																				0.587	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
CHRNA2	1135	broad.mit.edu	37	8	27324848	27324848	+	Missense_Mutation	SNP	C	C	T	rs541282922		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27324848C>T	ENST00000520933.2	-	4	500	c.347G>A	c.(346-348)aGc>aAc	p.S116N	CHRNA2_ENST00000240132.2_Missense_Mutation_p.S101N|CHRNA2_ENST00000407991.1_Missense_Mutation_p.S116N			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	116					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.S116N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	TTTGTAGTCGCTCCACTCCTG	0.552																																					p.S116N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	8						.						95.0	94.0	94.0					8																	27324848		2203	4300	6503	27380765	SO:0001583	missense	1135	exon5			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.347G>A	8.37:g.27324848C>T	ENSP00000429616:p.Ser116Asn		27380765	NM_000742	A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	0.322	-0.961233	0.02249	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.76839	-1.05;-1.05;0.98	5.52	-5.63	0.02474	Neurotransmitter-gated ion-channel ligand-binding (3);	0.389394	0.32671	N	0.005783	T	0.28566	0.0707	N	0.00123	-2.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.52064	-0.8625	10	0.02654	T	1	.	10.9824	0.47501	0.0:0.165:0.1102:0.7248	.	101;116	B4DK19;Q15822	.;ACHA2_HUMAN	N	116;116;101	ENSP00000385026:S116N;ENSP00000429616:S116N;ENSP00000240132:S101N	ENSP00000240132:S101N	S	-	2	0	CHRNA2	27380765	0.000000	0.05858	0.014000	0.15608	0.327000	0.28475	-0.570000	0.05895	-1.367000	0.02152	-0.345000	0.07892	AGC		0.552	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4		
CLU	1191	broad.mit.edu	37	8	27457480	27457480	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27457480G>A	ENST00000316403.10	-	7	1386	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CLU_ENST00000560366.1_Silent_p.L379L|CLU_ENST00000405140.3_Silent_p.L327L|CLU_ENST00000546343.1_Silent_p.L338L|CLU_ENST00000523500.1_Silent_p.L327L			P10909	CLUS_HUMAN	clusterin	327					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.L379L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGATTCGTCGAGCTCCCGCC	0.552																																					p.L338L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1014T	8						.						72.0	65.0	67.0					8																	27457480		2203	4300	6503	27513397	SO:0001819	synonymous_variant	1191	exon7			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.981C>T	8.37:g.27457480G>A			27513397	NM_001171138	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Silent	SNP	ENST00000316403.10	37	CCDS47832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.134|6.134	0.392998|0.392998	0.11638|0.11638	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000522098|ENST00000521770	.|.	.|.	.|.	5.62|5.62	-6.93|-6.93	0.01638|0.01638	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44095	.|0.1277	.|.	.|.	.|.	0.48288|0.48288	D|D	0.999624|0.999624	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49351	.|-0.8949	.|4	.|.	.|.	.|.	-26.3671|-26.3671	4.9001|4.9001	0.13769|0.13769	0.4186:0.1364:0.372:0.073|0.4186:0.1364:0.372:0.073	.|.	.|.	.|.	.|.	X|L	190|18	.|.	.|.	R|S	-|-	1|2	2|0	CLU|CLU	27513397|27513397	0.028000|0.028000	0.19301|0.19301	0.046000|0.046000	0.18839|0.18839	0.003000|0.003000	0.03518|0.03518	-0.952000|-0.952000	0.03881|0.03881	-0.712000|-0.712000	0.04988|0.04988	-0.955000|-0.955000	0.02649|0.02649	CGA|TCG		0.552	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3	NM_001831	
NUGGC	389643	broad.mit.edu	37	8	27925148	27925148	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:27925148C>A	ENST00000413272.2	-	6	736	c.594G>T	c.(592-594)tgG>tgT	p.W198C	NUGGC_ENST00000341513.6_Missense_Mutation_p.W198C	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	198					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TTTGTAGCTTCCAGGTGGCTT	0.517																																					p.W198C												.	.	0			c.G594T	8						.						91.0	95.0	94.0					8																	27925148		2035	4196	6231	27981067	SO:0001583	missense	389643	exon6			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.594G>T	8.37:g.27925148C>A	ENSP00000408697:p.Trp198Cys		27981067	NM_001010906	Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421562	0.25639	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.95447	-3.71;-3.71	6.1	5.21	0.72293	Dynamin, GTPase domain (1);	0.606857	0.15813	N	0.243353	D	0.92841	0.7723	L	0.44542	1.39	0.49687	D	0.999819	B	0.06786	0.001	B	0.10450	0.005	D	0.89446	0.3727	10	0.52906	T	0.07	-0.0345	12.9606	0.58455	0.1612:0.8388:0.0:0.0	.	198	Q68CJ6	SLIP_HUMAN	C	198	ENSP00000408697:W198C;ENSP00000345031:W198C	ENSP00000345031:W198C	W	-	3	0	C8orf80	27981067	0.890000	0.30428	1.000000	0.80357	0.740000	0.42216	1.228000	0.32588	1.561000	0.49584	0.603000	0.83216	TGG		0.517	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906	
FBXO16	157574	broad.mit.edu	37	8	28309877	28309877	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28309877C>A	ENST00000380254.2	-	6	772	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FBXO16_ENST00000518734.1_Missense_Mutation_p.K196N|FBXO16_ENST00000346498.2_Missense_Mutation_p.K196N|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_5'UTR|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	208								p.K208N(1)		large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CTGAGTTATTCTTCTTTCTTA	0.433																																					p.K208N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G624T	8						.						90.0	93.0	92.0					8																	28309877		2203	4300	6503	28365796	SO:0001583	missense	157574	exon6			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.624G>T	8.37:g.28309877C>A	ENSP00000369604:p.Lys208Asn		28365796	NM_172366	Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.45|11.45	1.643698|1.643698	0.29246|0.29246	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673|ENST00000518248	T;T;T;T|.	0.52754|.	2.34;2.28;2.32;0.65|.	5.49|5.49	4.61|4.61	0.57282|0.57282	.|.	0.338424|.	0.23640|.	U|.	0.046030|.	T|T	0.62744|0.62744	0.2453|0.2453	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;P;P|.	0.40144|.	0.698;0.704;0.554|.	B;B;B|.	0.35550|.	0.205;0.203;0.159|.	T|T	0.61302|0.61302	-0.7090|-0.7090	10|5	0.72032|.	D|.	0.01|.	-13.088|-13.088	9.5753|9.5753	0.39454|0.39454	0.0:0.8378:0.0:0.1622|0.0:0.8378:0.0:0.1622	.|.	196;196;208|.	Q3T1B3;Q3T1B2;Q8IX29|.	.;.;FBX16_HUMAN|.	N|I	208;196;196;153|53	ENSP00000369604:K208N;ENSP00000341416:K196N;ENSP00000429687:K196N;ENSP00000429390:K153N|.	ENSP00000341416:K196N|.	K|R	-|-	3|2	2|0	FBXO16|FBXO16	28365796|28365796	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.288000|0.288000	0.27193|0.27193	3.181000|3.181000	0.50903|0.50903	1.300000|1.300000	0.44818|0.44818	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.433	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	
FZD3	7976	broad.mit.edu	37	8	28360642	28360642	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28360642G>T	ENST00000240093.3	+	3	590	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MIR4288_ENST00000582598.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.D38Y	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	38	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D38Y(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GATGTGCCAAGATTTGCCTTA	0.413																																					p.D38Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112T	8						.						230.0	202.0	211.0					8																	28360642		2203	4300	6503	28416561	SO:0001583	missense	7976	exon2			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.112G>T	8.37:g.28360642G>T	ENSP00000240093:p.Asp38Tyr		28416561	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529181	0.64860	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81163	-1.46;-1.46	5.68	5.68	0.88126	Frizzled domain (5);	0.163608	0.53938	D	0.000045	D	0.86859	0.6034	M	0.68952	2.095	0.80722	D	1	P	0.48350	0.909	P	0.57776	0.827	D	0.85892	0.1429	9	.	.	.	.	16.4948	0.84237	0.0:0.0:1.0:0.0	.	38	Q9NPG1	FZD3_HUMAN	Y	38	ENSP00000437489:D38Y;ENSP00000240093:D38Y	.	D	+	1	0	FZD3	28416561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.483000	0.97937	2.676000	0.91093	0.561000	0.74099	GAT		0.413	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
FZD3	7976	broad.mit.edu	37	8	28385376	28385376	+	Missense_Mutation	SNP	G	G	A	rs372290611		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28385376G>A	ENST00000240093.3	+	5	1577	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.D367N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	367					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D367N(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TGGCCTCTACGATGTTGATGC	0.443																																					p.D367N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1099A	8						.	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	144.0	141.0	142.0		1099,1099	5.1	1.0	8		142	0,8600		0,0,4300	no	missense,missense	FZD3	NM_017412.3,NM_145866.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	367/667,367/667	28385376	1,13005	2203	4300	6503	28441295	SO:0001583	missense	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1099G>A	8.37:g.28385376G>A	ENSP00000240093:p.Asp367Asn		28441295	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478444	0.44044	2.27E-4	0.0	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81415	-1.49;-1.49	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.38649	1.16	0.80722	D	1	P	0.40970	0.734	B	0.40825	0.341	T	0.73142	-0.4076	10	0.25751	T	0.34	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	367	Q9NPG1	FZD3_HUMAN	N	367	ENSP00000437489:D367N;ENSP00000240093:D367N	ENSP00000240093:D367N	D	+	1	0	FZD3	28441295	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.877000	0.63086	2.371000	0.80710	0.563000	0.77884	GAT		0.443	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
FZD3	7976	broad.mit.edu	37	8	28385478	28385478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28385478C>T	ENST00000240093.3	+	5	1679	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Nonsense_Mutation_p.R401*	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	401					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R401*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AAACAGAGTTCGAATTGAGAT	0.403																																					p.R401X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1201T	8						.						136.0	136.0	136.0					8																	28385478		2203	4300	6503	28441397	SO:0001587	stop_gained	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1201C>T	8.37:g.28385478C>T	ENSP00000240093:p.Arg401*		28441397	NM_145866	A8K615	Nonsense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	C	42	9.652083	0.99230	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8242	0.88660	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000240093:R401X	R	+	1	2	FZD3	28441397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.563000	0.77884	CGA		0.403	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
EXTL3	2137	broad.mit.edu	37	8	28575042	28575042	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28575042G>A	ENST00000220562.4	+	3	2368	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H	EXTL3_ENST00000523149.1_Missense_Mutation_p.R105H|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	489					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.R489H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCAAAGCCTCGTGTTACCGAG	0.607																																					p.R489H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	8						.						62.0	62.0	62.0					8																	28575042		2203	4300	6503	28630961	SO:0001583	missense	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1466G>A	8.37:g.28575042G>A	ENSP00000220562:p.Arg489His		28630961	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137020	0.56936	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97811	-4.55;-4.55	5.8	5.8	0.92144	.	0.052123	0.85682	D	0.000000	D	0.98661	0.9551	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	10	0.59425	D	0.04	-15.0215	20.0522	0.97631	0.0:0.0:1.0:0.0	.	489	O43909	EXTL3_HUMAN	H	105;489	ENSP00000428691:R105H;ENSP00000220562:R489H	ENSP00000220562:R489H	R	+	2	0	EXTL3	28630961	1.000000	0.71417	0.089000	0.20774	0.241000	0.25554	9.853000	0.99521	2.737000	0.93849	0.563000	0.77884	CGT		0.607	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
INTS9	55756	broad.mit.edu	37	8	28638404	28638404	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28638404G>A	ENST00000521022.1	-	12	1287	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	INTS9_ENST00000397363.4_Silent_p.F296F|INTS9_ENST00000416984.2_Silent_p.F381F|INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000521777.1_Silent_p.F378F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	402					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.F402F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCACGTCCCCGAAGCGGAGGG	0.493																																					p.F381F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1143T	8						.						69.0	66.0	67.0					8																	28638404		2203	4300	6503	28694323	SO:0001819	synonymous_variant	55756	exon11			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1206C>T	8.37:g.28638404G>A			28694323	NM_001145159	B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	CCDS34873.1																																																																																				0.493	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	
KIF13B	23303	broad.mit.edu	37	8	28967560	28967560	+	Missense_Mutation	SNP	C	C	A	rs553766326		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:28967560C>A	ENST00000524189.1	-	33	3996	c.3958G>T	c.(3958-3960)Gca>Tca	p.A1320S	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1320					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.A1320S(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTTGCTAATGCTTCCCGTTCT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19960	0.0		0.001	False		,,,				2504	0.0				p.A1320S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3958T	8						.						46.0	43.0	44.0					8																	28967560		1996	4173	6169	29023479	SO:0001583	missense	23303	exon33			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3958G>T	8.37:g.28967560C>A	ENSP00000427900:p.Ala1320Ser		29023479	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.157762	0.01686	.	.	ENSG00000197892	ENST00000524189	T	0.74209	-0.82	5.13	3.19	0.36642	.	0.208574	0.49916	D	0.000138	T	0.46092	0.1375	N	0.03983	-0.305	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.43458	-0.9390	10	0.02654	T	1	.	11.8375	0.52333	0.0:0.8896:0.0:0.1104	.	1320	F8VPJ2	.	S	1320	ENSP00000427900:A1320S	ENSP00000427900:A1320S	A	-	1	0	KIF13B	29023479	1.000000	0.71417	0.799000	0.32177	0.010000	0.07245	2.901000	0.48695	0.611000	0.30052	0.650000	0.86243	GCA		0.473	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu	37	8	29033633	29033633	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:29033633C>A	ENST00000524189.1	-	10	935	c.897G>T	c.(895-897)aaG>aaT	p.K299N	KIF13B_ENST00000521515.1_Missense_Mutation_p.K299N	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	299	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.K299N(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAATTTATTCTTGTTTTTGC	0.418																																					p.K299N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G897T	8						.						79.0	74.0	76.0					8																	29033633		1896	4114	6010	29089552	SO:0001583	missense	23303	exon10			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.897G>T	8.37:g.29033633C>A	ENSP00000427900:p.Lys299Asn		29089552	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514844	0.85389	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.75938	-0.98;-0.98	5.44	4.52	0.55395	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.83709	0.5313	M	0.70108	2.13	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.964	P;D;P	0.79784	0.903;0.993;0.749	D	0.84947	0.0869	10	0.72032	D	0.01	.	11.2553	0.49050	0.0:0.9054:0.0:0.0946	.	285;299;299	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	N	299	ENSP00000427900:K299N;ENSP00000429201:K299N	ENSP00000429201:K299N	K	-	3	2	KIF13B	29089552	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.896000	0.56266	1.374000	0.46228	0.655000	0.94253	AAG		0.418	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
RBPMS	11030	broad.mit.edu	37	8	30361947	30361947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30361947G>T	ENST00000320203.4	+	5	973	c.391G>T	c.(391-393)Gag>Tag	p.E131*	RBPMS_ENST00000339877.4_Nonsense_Mutation_p.E131*|RBPMS_ENST00000287771.5_Nonsense_Mutation_p.E131*|RBPMS_ENST00000538486.1_Nonsense_Mutation_p.E131*|RBPMS_ENST00000520191.1_Nonsense_Mutation_p.E27*|RBPMS_ENST00000397323.4_Nonsense_Mutation_p.E131*|RBPMS_ENST00000519647.1_Nonsense_Mutation_p.E27*|RBPMS_ENST00000520161.1_Nonsense_Mutation_p.E27*|RBPMS_ENST00000517860.1_Nonsense_Mutation_p.E131*	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	131					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E131*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CATTGCCAGAGAGCCATGTAA	0.458																																					p.E131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G391T	8						.						121.0	103.0	109.0					8																	30361947		2203	4300	6503	30481489	SO:0001587	stop_gained	11030	exon5			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.391G>T	8.37:g.30361947G>T	ENSP00000318102:p.Glu131*		30481489	NM_001008711	D3DSU9|Q92516|Q92517|Q92518|Q96J26	Nonsense_Mutation	SNP	ENST00000320203.4	37	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	G	42	9.290611	0.99127	.	.	ENSG00000157110	ENST00000538486;ENST00000397323;ENST00000339877;ENST00000320203;ENST00000287771;ENST00000517860;ENST00000520161;ENST00000523115;ENST00000519647;ENST00000520191	.	.	.	5.65	5.65	0.86999	.	0.057039	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-16.8346	17.2626	0.87075	0.0:0.0:1.0:0.0	.	.	.	.	X	131;131;131;131;131;131;27;27;27;27	.	ENSP00000287771:E131X	E	+	1	0	RBPMS	30481489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.475000	0.97721	2.941000	0.99782	0.655000	0.94253	GAG		0.458	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2		
PPP2CB	5516	broad.mit.edu	37	8	30651555	30651555	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30651555G>A	ENST00000221138.4	-	5	1066	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	206					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R206C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	CATCCACCACGATCATCTGGA	0.423																																					p.R206C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	8						.						68.0	53.0	58.0					8																	30651555		2203	4300	6503	30771097	SO:0001583	missense	5516	exon5				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.616C>T	8.37:g.30651555G>A	ENSP00000221138:p.Arg206Cys		30771097	NM_001009552	D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370387	0.61624	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000520334;ENST00000518243	T;T;T	0.42131	0.98;0.98;0.98	4.99	4.1	0.47936	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.77486	2.375	0.80722	D	1	B	0.24043	0.096	B	0.09377	0.004	T	0.51772	-0.8663	10	0.72032	D	0.01	-29.5685	12.7918	0.57539	0.0807:0.0:0.9193:0.0	.	206	P62714	PP2AB_HUMAN	C	206;206;44;159	ENSP00000221138:R206C;ENSP00000430758:R44C;ENSP00000428618:R159C	ENSP00000221138:R206C	R	-	1	0	PPP2CB	30771097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.455000	0.83008	0.655000	0.94253	CGT		0.423	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552	
PPP2CB	5516	broad.mit.edu	37	8	30657062	30657062	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30657062C>A	ENST00000221138.4	-	2	762	c.312G>T	c.(310-312)aaG>aaT	p.K104N	PPP2CB_ENST00000520500.1_5'Flank|PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	104					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.K104N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ATAATCATACCTTTAATGCTA	0.338																																					p.K104N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G312T	8						.						82.0	83.0	83.0					8																	30657062		2203	4300	6503	30776604	SO:0001630	splice_region_variant	5516	exon2				CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.312+1G>T	8.37:g.30657062C>A			30776604	NM_001009552	D3DSV4|P11082|Q6FHK5	Missense_Mutation	SNP	ENST00000221138.4	37	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178680	0.78564	.	.	ENSG00000104695	ENST00000221138;ENST00000406655;ENST00000518243;ENST00000520056	T;T;T	0.10099	2.91;2.91;2.91	4.23	4.23	0.50019	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	H	0.99998	5.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84939	0.0864	9	.	.	.	-0.1905	16.5695	0.84607	0.0:1.0:0.0:0.0	.	104	P62714	PP2AB_HUMAN	N	104;104;57;39	ENSP00000221138:K104N;ENSP00000428618:K57N;ENSP00000428866:K39N	.	K	-	3	2	PPP2CB	30776604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.942000	0.63547	2.046000	0.60703	0.655000	0.94253	AAG		0.338	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552	Missense_Mutation
TEX15	56154	broad.mit.edu	37	8	30700271	30700271	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30700271A>G	ENST00000256246.2	-	1	6337	c.6263T>C	c.(6262-6264)tTt>tCt	p.F2088S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2088					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F2088S(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATACCTCGAAACCTCTGTTT	0.348																																					p.F2088S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6263C	8						.						60.0	60.0	60.0					8																	30700271		2203	4300	6503	30819813	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6263T>C	8.37:g.30700271A>G	ENSP00000256246:p.Phe2088Ser		30819813	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367279	0.61513	.	.	ENSG00000133863	ENST00000256246	T	0.17213	2.29	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000027	T	0.37128	0.0992	L	0.59436	1.845	0.40273	D	0.978312	D	0.71674	0.998	D	0.67548	0.952	T	0.18681	-1.0329	10	0.87932	D	0	.	14.4533	0.67399	1.0:0.0:0.0:0.0	.	2088	Q9BXT5	TEX15_HUMAN	S	2088	ENSP00000256246:F2088S	ENSP00000256246:F2088S	F	-	2	0	TEX15	30819813	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	4.113000	0.57851	2.065000	0.61736	0.477000	0.44152	TTT		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30701203	30701203	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30701203C>A	ENST00000256246.2	-	1	5405	c.5331G>T	c.(5329-5331)aaG>aaT	p.K1777N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1777					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.K1777N(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTATGAATTCTTTTCCCTTT	0.328																																					p.K1777N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5331T	8						.						68.0	62.0	64.0					8																	30701203		2203	4300	6503	30820745	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5331G>T	8.37:g.30701203C>A	ENSP00000256246:p.Lys1777Asn		30820745	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644652	0.00792	.	.	ENSG00000133863	ENST00000256246	T	0.07021	3.23	5.55	-4.83	0.03161	.	0.353914	0.23446	N	0.048089	T	0.01558	0.0050	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38972	-0.9636	10	0.87932	D	0	.	0.8176	0.01105	0.1682:0.2158:0.2915:0.3245	.	1777	Q9BXT5	TEX15_HUMAN	N	1777	ENSP00000256246:K1777N	ENSP00000256246:K1777N	K	-	3	2	TEX15	30820745	0.000000	0.05858	0.016000	0.15963	0.938000	0.57974	-1.416000	0.02467	-0.393000	0.07739	-0.262000	0.10625	AAG		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30701385	30701385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30701385G>A	ENST00000256246.2	-	1	5223	c.5149C>T	c.(5149-5151)Cga>Tga	p.R1717*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1717					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.R1717*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGCAAGCTTCGCAATGTTGGT	0.388																																					p.R1717X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5149T	8						.						142.0	133.0	136.0					8																	30701385		2203	4300	6503	30820927	SO:0001587	stop_gained	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5149C>T	8.37:g.30701385G>A	ENSP00000256246:p.Arg1717*		30820927	NM_031271		Nonsense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	44	11.233117	0.99534	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.69	4.79	0.61399	.	0.000000	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4557	0.55702	0.0:0.0:0.6716:0.3283	.	.	.	.	X	1717	.	ENSP00000256246:R1717X	R	-	1	2	TEX15	30820927	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.381000	0.52455	1.323000	0.45263	0.563000	0.77884	CGA		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30701628	30701628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30701628C>A	ENST00000256246.2	-	1	4980	c.4906G>T	c.(4906-4908)Gaa>Taa	p.E1636*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1636					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1636*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACCTTAGTTTCTTCCTGTAGA	0.358																																					p.E1636X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4906T	8						.						51.0	51.0	51.0					8																	30701628		2203	4299	6502	30821170	SO:0001587	stop_gained	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4906G>T	8.37:g.30701628C>A	ENSP00000256246:p.Glu1636*		30821170	NM_031271		Nonsense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	44	10.733387	0.99458	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.92	4.04	0.47022	.	0.209741	0.33477	N	0.004880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.2895	0.37778	0.1289:0.4481:0.423:0.0	.	.	.	.	X	1636	.	ENSP00000256246:E1636X	E	-	1	0	TEX15	30821170	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.505000	0.35736	1.440000	0.47531	0.655000	0.94253	GAA		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30701882	30701882	+	Missense_Mutation	SNP	G	G	A	rs140180655		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30701882G>A	ENST00000256246.2	-	1	4726	c.4652C>T	c.(4651-4653)tCg>tTg	p.S1551L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1551					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1551L(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCAGACTGCGAGTCTTTACT	0.383																																					p.S1551L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4652T	8						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	189.0	189.0	189.0		4652	1.6	0.0	8	dbSNP_134	189	0,8600		0,0,4300	no	missense	TEX15	NM_031271.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1551/2790	30701882	1,13005	2203	4300	6503	30821424	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4652C>T	8.37:g.30701882G>A	ENSP00000256246:p.Ser1551Leu		30821424	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721886	0.30503	2.27E-4	0.0	ENSG00000133863	ENST00000256246	T	0.11930	2.73	5.47	1.6	0.23607	.	0.631705	0.14770	N	0.299434	T	0.13500	0.0327	M	0.61703	1.905	0.09310	N	1	B	0.20887	0.049	B	0.14578	0.011	T	0.24476	-1.0159	10	0.87932	D	0	.	5.0005	0.14262	0.2554:0.1525:0.5921:0.0	.	1551	Q9BXT5	TEX15_HUMAN	L	1551	ENSP00000256246:S1551L	ENSP00000256246:S1551L	S	-	2	0	TEX15	30821424	0.013000	0.17824	0.000000	0.03702	0.012000	0.07955	0.491000	0.22419	0.076000	0.16826	0.655000	0.94253	TCG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30703414	30703414	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30703414G>T	ENST00000256246.2	-	1	3194	c.3120C>A	c.(3118-3120)ttC>ttA	p.F1040L	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1040					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F1040L(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACTTTCCCAGAAATTATTGC	0.328																																					p.F1040L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3120A	8						.						69.0	74.0	72.0					8																	30703414		2203	4295	6498	30822956	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3120C>A	8.37:g.30703414G>T	ENSP00000256246:p.Phe1040Leu		30822956	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420917	0.62622	.	.	ENSG00000133863	ENST00000256246	T	0.10288	2.89	5.71	-2.23	0.06930	.	0.191953	0.37136	N	0.002229	T	0.06234	0.0161	L	0.42245	1.32	0.30103	N	0.807278	P	0.40619	0.724	B	0.34452	0.183	T	0.18335	-1.0340	10	0.87932	D	0	.	3.067	0.06218	0.463:0.1102:0.3148:0.112	.	1040	Q9BXT5	TEX15_HUMAN	L	1040	ENSP00000256246:F1040L	ENSP00000256246:F1040L	F	-	3	2	TEX15	30822956	0.997000	0.39634	0.976000	0.42696	0.896000	0.52359	0.104000	0.15313	-0.148000	0.11234	-0.444000	0.05651	TTC		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30704275	30704275	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30704275A>C	ENST00000256246.2	-	1	2333	c.2259T>G	c.(2257-2259)ttT>ttG	p.F753L	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	753					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F753L(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAGAGGAATAAAAATAGTTAC	0.363																																					p.F753L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2259G	8						.						91.0	90.0	90.0					8																	30704275		2203	4300	6503	30823817	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2259T>G	8.37:g.30704275A>C	ENSP00000256246:p.Phe753Leu		30823817	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375905	0.24857	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.78	0.598	0.17512	.	0.757705	0.11905	N	0.518275	T	0.05960	0.0155	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36114	-0.9761	10	0.87932	D	0	.	3.5206	0.07740	0.5809:0.0:0.2604:0.1588	.	753	Q9BXT5	TEX15_HUMAN	L	753	ENSP00000256246:F753L	ENSP00000256246:F753L	F	-	3	2	TEX15	30823817	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.479000	0.22228	0.082000	0.17018	0.533000	0.62120	TTT		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30704934	30704934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30704934C>A	ENST00000256246.2	-	1	1674	c.1600G>T	c.(1600-1602)Gaa>Taa	p.E534*	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	534					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E534*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTAGAAAATTCTTCAGAACTC	0.333																																					p.E534X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1600T	8						.						60.0	61.0	61.0					8																	30704934		2202	4292	6494	30824476	SO:0001587	stop_gained	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1600G>T	8.37:g.30704934C>A	ENSP00000256246:p.Glu534*		30824476	NM_031271		Nonsense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	37	6.225998	0.97394	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.49	2.15	0.27550	.	0.419100	0.20593	N	0.089301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.5775	0.17231	0.0:0.6167:0.1635:0.2197	.	.	.	.	X	534	.	ENSP00000256246:E534X	E	-	1	0	TEX15	30824476	0.125000	0.22332	0.742000	0.31022	0.709000	0.40893	0.262000	0.18460	0.776000	0.33473	0.650000	0.86243	GAA		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30705600	30705600	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30705600T>C	ENST00000256246.2	-	1	1008	c.934A>G	c.(934-936)Aca>Gca	p.T312A	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	312					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.T312A(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGGTAGATGTAGAAGATTTT	0.348																																					p.T312A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A934G	8						.						52.0	53.0	53.0					8																	30705600		2203	4299	6502	30825142	SO:0001583	missense	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.934A>G	8.37:g.30705600T>C	ENSP00000256246:p.Thr312Ala		30825142	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	2.895	-0.228860	0.06022	.	.	ENSG00000133863	ENST00000256246	T	0.08896	3.04	5.46	0.251	0.15540	.	0.969624	0.08473	N	0.940676	T	0.04861	0.0131	N	0.17082	0.46	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.44345	-0.9334	10	0.87932	D	0	.	1.2603	0.02000	0.1357:0.2304:0.1411:0.4928	.	312	Q9BXT5	TEX15_HUMAN	A	312	ENSP00000256246:T312A	ENSP00000256246:T312A	T	-	1	0	TEX15	30825142	0.000000	0.05858	0.000000	0.03702	0.410000	0.31052	-0.272000	0.08560	-0.109000	0.12044	0.528000	0.53228	ACA		0.348	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
WRN	7486	broad.mit.edu	37	8	30938555	30938555	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30938555G>A	ENST00000298139.5	+	9	1261	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	338					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.V338I(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGAACATGAAGTTTTAATTCA	0.358			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.V338I	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1012A	8						.						101.0	99.0	100.0					8																	30938555		2203	4299	6502	31058097	SO:0001583	missense	7486	exon9	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1012G>A	8.37:g.30938555G>A	ENSP00000298139:p.Val338Ile		31058097	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	4.631	0.117272	0.08881	.	.	ENSG00000165392	ENST00000298139	T	0.42131	0.98	4.75	-4.41	0.03590	.	1.361190	0.04758	N	0.425723	T	0.10165	0.0249	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10222	-1.0639	10	0.21540	T	0.41	0.3763	0.6418	0.00812	0.2561:0.1195:0.2593:0.3651	.	338	Q14191	WRN_HUMAN	I	338	ENSP00000298139:V338I	ENSP00000298139:V338I	V	+	1	0	WRN	31058097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.653000	0.05360	-0.467000	0.06932	-1.111000	0.02071	GTT		0.358	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
WRN	7486	broad.mit.edu	37	8	30941264	30941264	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30941264G>A	ENST00000298139.5	+	10	1568	c.1319G>A	c.(1318-1320)aGt>aAt	p.S440N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	440	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.S440N(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTAATTGAGAGTGATGAAGAT	0.254			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.S440N	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1319A	8						.						78.0	77.0	77.0					8																	30941264		2202	4280	6482	31060806	SO:0001583	missense	7486	exon10	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1319G>A	8.37:g.30941264G>A	ENSP00000298139:p.Ser440Asn		31060806	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607963	0.28623	.	.	ENSG00000165392	ENST00000298139	T	0.49720	0.77	4.25	4.25	0.50352	.	0.235594	0.43416	D	0.000574	T	0.66819	0.2828	M	0.71581	2.175	0.42118	D	0.991418	D	0.71674	0.998	D	0.75484	0.986	T	0.71185	-0.4667	10	0.54805	T	0.06	7.0616	15.2089	0.73202	0.0:0.0:1.0:0.0	.	440	Q14191	WRN_HUMAN	N	440	ENSP00000298139:S440N	ENSP00000298139:S440N	S	+	2	0	WRN	31060806	1.000000	0.71417	0.996000	0.52242	0.244000	0.25665	6.757000	0.74924	1.916000	0.55485	0.305000	0.20034	AGT		0.254	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
WRN	7486	broad.mit.edu	37	8	30948015	30948015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30948015G>T	ENST00000298139.5	+	14	1936	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	563	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.E563*(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTATTAGAAGAAAGAAGAGA	0.289			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.E563X	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1687T	8						.						72.0	79.0	76.0					8																	30948015		2202	4291	6493	31067557	SO:0001587	stop_gained	7486	exon14	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1687G>T	8.37:g.30948015G>T	ENSP00000298139:p.Glu563*		31067557	NM_000553	A1KYY9	Nonsense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	42	9.781993	0.99263	.	.	ENSG00000165392	ENST00000298139	.	.	.	5.46	5.46	0.80206	.	0.056024	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.7162	17.8791	0.88834	0.0:0.0:1.0:0.0	.	.	.	.	X	563	.	ENSP00000298139:E563X	E	+	1	0	WRN	31067557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.604000	0.61112	2.579000	0.87056	0.650000	0.86243	GAA		0.289	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
NRG1	3084	broad.mit.edu	37	8	32505545	32505545	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:32505545C>A	ENST00000405005.3	+	5	502				NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520502.2_Silent_p.I103I|NRG1_ENST00000338921.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.I103I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGGACAAGATCTTTGAATATG	0.542																																					p.I103I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309A	8						.						115.0	115.0	115.0					8																	32505545		2203	4300	6503	32625087	SO:0001627	intron_variant	3084	exon1			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31142C>A	8.37:g.32505545C>A			32625087	NM_013959	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Intron	SNP	ENST00000405005.3	37	CCDS6085.1																																																																																				0.542	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
NRG1	3084	broad.mit.edu	37	8	32621575	32621575	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:32621575A>C	ENST00000405005.3	+	12	1578	c.1578A>C	c.(1576-1578)gaA>gaC	p.E526D	NRG1_ENST00000287842.3_Missense_Mutation_p.E523D|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.E497D|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000519301.1_Missense_Mutation_p.E476D|NRG1_ENST00000356819.4_Missense_Mutation_p.E531D|NRG1_ENST00000539990.1_Missense_Mutation_p.E369D|NRG1_ENST00000338921.4_Missense_Mutation_p.E534D			Q02297	NRG1_HUMAN	neuregulin 1	526					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E531D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGGAGTATGAAACGACCCAAG	0.547																																					p.E523D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1569C	8						.						67.0	60.0	62.0					8																	32621575		2203	4300	6503	32741117	SO:0001583	missense	3084	exon12			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1578A>C	8.37:g.32621575A>C	ENSP00000384620:p.Glu526Asp		32741117	NM_013957	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756083	0.49362	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11;0.11	5.75	-0.907	0.10521	Neuregulin 1-related, C-terminal (1);	0.057749	0.64402	D	0.000002	T	0.62974	0.2472	L	0.45352	1.415	0.40701	D	0.982486	D;B;B;D;B;D;B	0.71674	0.997;0.257;0.192;0.988;0.257;0.998;0.159	D;B;B;P;B;D;B	0.83275	0.994;0.147;0.34;0.778;0.23;0.996;0.23	T	0.59311	-0.7478	9	.	.	.	-17.9413	11.0886	0.48102	0.5135:0.0:0.4865:0.0	.	369;497;531;534;523;526;531	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	D	476;599;534;531;526;497;523;526;369	ENSP00000429582:E476D;ENSP00000429067:E599D;ENSP00000343395:E534D;ENSP00000349275:E531D;ENSP00000287840:E526D;ENSP00000287845:E497D;ENSP00000287842:E523D;ENSP00000384620:E526D;ENSP00000439276:E369D	.	E	+	3	2	NRG1	32741117	1.000000	0.71417	0.969000	0.41365	0.905000	0.53344	1.034000	0.30204	-0.101000	0.12219	0.374000	0.22700	GAA		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
FUT10	84750	broad.mit.edu	37	8	33246541	33246541	+	Silent	SNP	G	G	A	rs202141953		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33246541G>A	ENST00000327671.5	-	4	1783	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	FUT10_ENST00000335589.3_Silent_p.I322I|FUT10_ENST00000518672.1_Silent_p.I356I|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Silent_p.I356I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	384					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.I384I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		CAAATGCATCGATGTAATTGT	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22150	0.0		0.0	False		,,,				2504	0.0				p.I384I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	8						.						250.0	211.0	224.0					8																	33246541		2203	4300	6503	33366083	SO:0001819	synonymous_variant	84750	exon4			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.1152C>T	8.37:g.33246541G>A			33366083	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1																																																																																				0.498	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
FUT10	84750	broad.mit.edu	37	8	33310889	33310889	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33310889C>A	ENST00000327671.5	-	3	852	c.221G>T	c.(220-222)aGa>aTa	p.R74I	FUT10_ENST00000518672.1_Missense_Mutation_p.R46I|FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.R46I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	74					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.R74I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TTCCCATTTTCTTTTCCTGTT	0.453																																					p.R74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221T	8						.						111.0	105.0	107.0					8																	33310889		2203	4300	6503	33430431	SO:0001583	missense	84750	exon3			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.221G>T	8.37:g.33310889C>A	ENSP00000332757:p.Arg74Ile		33430431	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790893	0.31685	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021	T;T;T	0.25250	1.81;1.81;1.81	5.58	-5.81	0.02340	.	3.053280	0.00766	N	0.001164	T	0.18045	0.0433	L	0.29908	0.895	0.09310	N	0.999998	B;B;B;B;B;B	0.27416	0.178;0.015;0.037;0.064;0.025;0.018	B;B;B;B;B;B	0.28385	0.089;0.057;0.047;0.047;0.038;0.079	T	0.19031	-1.0318	10	0.34782	T	0.22	0.8794	7.7534	0.28911	0.0:0.2908:0.4624:0.2468	.	124;116;74;46;74;116	B4E056;B4DLS4;Q6P4F1-5;Q6P4F1-4;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	74;116;46;46	ENSP00000332757:R74I;ENSP00000430428:R46I;ENSP00000429870:R46I	ENSP00000332757:R74I	R	-	2	0	FUT10	33430431	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.997000	0.03705	-0.957000	0.03627	-0.302000	0.09304	AGA		0.453	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
MAK16	84549	broad.mit.edu	37	8	33346629	33346629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33346629C>T	ENST00000360128.6	+	5	821	c.364C>T	c.(364-366)Cga>Tga	p.R122*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	122						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R122*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATACCTAATTCGAATTAGAAA	0.343																																					p.R122X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C364T	8						.						103.0	100.0	101.0					8																	33346629		2203	4300	6503	33466171	SO:0001587	stop_gained	84549	exon5			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.364C>T	8.37:g.33346629C>T	ENSP00000353246:p.Arg122*		33466171	NM_032509	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Nonsense_Mutation	SNP	ENST00000360128.6	37	CCDS6089.1	.	.	.	.	.	.	.	.	.	.	C	41	8.770487	0.98948	.	.	ENSG00000198042	ENST00000360128	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8121	20.1743	0.98175	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000353246:R122X	R	+	1	2	MAK16	33466171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.651000	0.54431	2.873000	0.98535	0.561000	0.74099	CGA		0.343	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376559.3	NM_032509	
TTI2	80185	broad.mit.edu	37	8	33361027	33361027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33361027C>A	ENST00000431156.2	-	6	1797	c.1179G>T	c.(1177-1179)gaG>gaT	p.E393D	TTI2_ENST00000520636.1_Missense_Mutation_p.E362D|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.E393D	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	393								p.E393D(1)									CATCATAAACCTCCAGATAAC	0.453																																					p.E393D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1179T	8						.						177.0	179.0	178.0					8																	33361027		2203	4300	6503	33480569	SO:0001583	missense	80185	exon5			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1179G>T	8.37:g.33361027C>A	ENSP00000411169:p.Glu393Asp		33480569	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987653	0.74589	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.78364	-1.17;-1.17;-1.17	6.03	1.3	0.21679	.	0.059957	0.64402	D	0.000005	D	0.85544	0.5721	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84499	0.0615	10	0.66056	D	0.02	-26.8976	10.1222	0.42627	0.0:0.5242:0.0:0.4758	.	393;362	Q6NXR4;E5RIH5	TTI2_HUMAN;.	D	393;393;382;362	ENSP00000353971:E393D;ENSP00000411169:E393D;ENSP00000428401:E362D	ENSP00000353971:E393D	E	-	3	2	C8orf41	33480569	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.724000	0.25954	0.301000	0.22738	-0.150000	0.13652	GAG		0.453	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
TTI2	80185	broad.mit.edu	37	8	33369892	33369892	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33369892C>A	ENST00000431156.2	-	2	858	c.240G>T	c.(238-240)gaG>gaT	p.E80D	TTI2_ENST00000520636.1_Missense_Mutation_p.E80D|SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Missense_Mutation_p.E80D	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	80								p.E80D(1)									GCCCCAGTGTCTCCGGCATTC	0.542																																					p.E80D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	8						.						68.0	71.0	70.0					8																	33369892		2203	4300	6503	33489434	SO:0001583	missense	80185	exon1			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.240G>T	8.37:g.33369892C>A	ENSP00000411169:p.Glu80Asp		33489434	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576293	0.28092	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397;ENST00000523305	T;T;T;T	0.57907	0.39;0.39;0.37;0.52	4.55	1.69	0.24217	.	1.051700	0.07570	N	0.918366	T	0.49609	0.1567	M	0.75447	2.3	0.09310	N	1	P;B;P	0.38535	0.635;0.231;0.608	B;B;B	0.35413	0.173;0.107;0.202	T	0.35847	-0.9772	10	0.36615	T	0.2	-5.9882	6.4854	0.22085	0.0:0.6099:0.1348:0.2552	.	80;80;80	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	D	80	ENSP00000353971:E80D;ENSP00000411169:E80D;ENSP00000428401:E80D;ENSP00000428569:E80D	ENSP00000353971:E80D	E	-	3	2	C8orf41	33489434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.779000	0.04659	0.183000	0.20059	-0.797000	0.03246	GAG		0.542	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
TTI2	80185	broad.mit.edu	37	8	33369964	33369964	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:33369964A>G	ENST00000431156.2	-	2	786	c.168T>C	c.(166-168)ggT>ggC	p.G56G	TTI2_ENST00000520636.1_Silent_p.G56G|SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Silent_p.G56G	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	56								p.G56G(1)									CTATTAGATCACCGAGGTCTT	0.532																																					p.G56G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T168C	8						.						72.0	73.0	73.0					8																	33369964		2203	4300	6503	33489506	SO:0001819	synonymous_variant	80185	exon1			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.168T>C	8.37:g.33369964A>G			33489506	NM_025115	D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	CCDS6090.1																																																																																				0.532	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
UNC5D	137970	broad.mit.edu	37	8	35584025	35584025	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:35584025G>A	ENST00000404895.2	+	10	1987	c.1659G>A	c.(1657-1659)ggG>ggA	p.G553G	UNC5D_ENST00000420357.1_Silent_p.G486G|UNC5D_ENST00000449677.1_Silent_p.G129G|UNC5D_ENST00000453357.2_Silent_p.G548G|UNC5D_ENST00000287272.2_Silent_p.G484G|UNC5D_ENST00000416672.1_Silent_p.G558G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	553	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G548G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ATTTAGGGGGGCGCTTAGTAA	0.418																																					p.G553G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1659A	8						.																																			35703567	SO:0001819	synonymous_variant	137970	exon10			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1659G>A	8.37:g.35584025G>A			35703567	NM_080872	Q8WYP7	Silent	SNP	ENST00000404895.2	37	CCDS6093.2																																																																																				0.418	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	broad.mit.edu	37	8	36662796	36662796	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:36662796G>T	ENST00000399881.3	+	4	498	c.461G>T	c.(460-462)gGa>gTa	p.G154V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	154					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G154V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTCTATTTTGGATTGAGGGTA	0.398																																					p.G154V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G461T	8						.						163.0	143.0	150.0					8																	36662796		1859	4095	5954	36781954	SO:0001583	missense	157855	exon4			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.461G>T	8.37:g.36662796G>T	ENSP00000382770:p.Gly154Val		36781954	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917513	0.73098	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.53857	0.6;0.6	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.64402	U	0.000020	T	0.55657	0.1934	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59343	-0.7472	10	0.33940	T	0.23	-5.3528	18.0747	0.89423	0.0:0.0:1.0:0.0	.	154	A8MYU2	KCNU1_HUMAN	V	154	ENSP00000429951:G154V;ENSP00000382770:G154V	ENSP00000382770:G154V	G	+	2	0	KCNU1	36781954	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.178000	0.89690	2.572000	0.86782	0.655000	0.94253	GGA		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
KCNU1	157855	broad.mit.edu	37	8	36693822	36693822	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:36693822C>T	ENST00000399881.3	+	13	1341	c.1304C>T	c.(1303-1305)tCt>tTt	p.S435F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	435	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S435F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGGTGCTCTCTATCAAGAAC	0.348																																					p.S435F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1304T	8						.						140.0	133.0	135.0					8																	36693822		1827	4079	5906	36812980	SO:0001583	missense	157855	exon13			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1304C>T	8.37:g.36693822C>T	ENSP00000382770:p.Ser435Phe		36812980	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049503	0.55218	.	.	ENSG00000215262	ENST00000399881	T	0.70282	-0.47	5.6	4.71	0.59529	NAD(P)-binding domain (1);	0.000000	0.35151	U	0.003416	D	0.84074	0.5392	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.86779	0.1978	10	0.87932	D	0	-4.1264	16.6359	0.85059	0.0:0.87:0.13:0.0	.	435	A8MYU2	KCNU1_HUMAN	F	435	ENSP00000382770:S435F	ENSP00000382770:S435F	S	+	2	0	KCNU1	36812980	0.998000	0.40836	0.929000	0.37066	0.298000	0.27526	4.151000	0.58105	1.466000	0.48025	0.650000	0.86243	TCT		0.348	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
KCNU1	157855	broad.mit.edu	37	8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T	rs199759602		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:36766859C>T	ENST00000399881.3	+	21	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	713	Segment S9.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R713W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0				p.R713W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2137T	8						.	C	TRP/ARG	8,3754		0,8,1873	219.0	212.0	214.0		2137	4.9	0.9	8		214	0,8242		0,0,4121	yes	missense	KCNU1	NM_001031836.2	101	0,8,5994	TT,TC,CC		0.0,0.2127,0.0666	probably-damaging	713/1150	36766859	8,11996	1881	4121	6002	36886017	SO:0001583	missense	157855	exon21			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2137C>T	8.37:g.36766859C>T	ENSP00000382770:p.Arg713Trp		36886017	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245906	0.39697	0.002127	0.0	ENSG00000215262	ENST00000399881	T	0.32272	1.46	5.8	4.93	0.64822	.	0.758151	0.10676	U	0.646924	T	0.32675	0.0837	L	0.54323	1.7	0.80722	D	1	B	0.23490	0.086	B	0.15052	0.012	T	0.06972	-1.0797	10	0.66056	D	0.02	-2.6227	12.8229	0.57704	0.0:0.9241:0.0:0.0759	.	713	A8MYU2	KCNU1_HUMAN	W	713	ENSP00000382770:R713W	ENSP00000382770:R713W	R	+	1	2	KCNU1	36886017	0.998000	0.40836	0.914000	0.36105	0.011000	0.07611	2.455000	0.44988	1.468000	0.48064	-0.136000	0.14681	CGG		0.468	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
KCNU1	157855	broad.mit.edu	37	8	36766989	36766989	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:36766989C>A	ENST00000399881.3	+	21	2304	c.2267C>A	c.(2266-2268)tCt>tAt	p.S756Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	756					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S756Y(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTCATTGGGTCTCTGGACTAT	0.438																																					p.S756Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2267A	8						.						152.0	151.0	151.0					8																	36766989		1866	4097	5963	36886147	SO:0001583	missense	157855	exon21			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2267C>A	8.37:g.36766989C>A	ENSP00000382770:p.Ser756Tyr		36886147	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090332	0.55968	.	.	ENSG00000215262	ENST00000399881	T	0.51817	0.69	5.8	5.8	0.92144	.	0.362164	0.20856	U	0.084426	T	0.66208	0.2766	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.68739	-0.5329	10	0.87932	D	0	-9.3302	15.2998	0.73940	0.1406:0.8594:0.0:0.0	.	756	A8MYU2	KCNU1_HUMAN	Y	756	ENSP00000382770:S756Y	ENSP00000382770:S756Y	S	+	2	0	KCNU1	36886147	0.965000	0.33210	0.675000	0.29917	0.537000	0.34900	3.441000	0.52893	2.745000	0.94114	0.655000	0.94253	TCT		0.438	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
KCNU1	157855	broad.mit.edu	37	8	36793332	36793332	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:36793332T>G	ENST00000399881.3	+	27	3381	c.3344T>G	c.(3343-3345)aTt>aGt	p.I1115S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1115					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I1115S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAACAGTATTATATCATCT	0.378																																					p.I1115S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3344G	8						.						125.0	122.0	123.0					8																	36793332		1871	4098	5969	36912490	SO:0001583	missense	157855	exon27			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3344T>G	8.37:g.36793332T>G	ENSP00000382770:p.Ile1115Ser		36912490	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	1.346	-0.592809	0.03771	.	.	ENSG00000215262	ENST00000399881	T	0.34859	1.34	3.45	-6.89	0.01660	.	.	.	.	.	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.02654	T	1	.	1.2882	0.02055	0.1494:0.272:0.3022:0.2764	.	1115	A8MYU2	KCNU1_HUMAN	S	1115	ENSP00000382770:I1115S	ENSP00000382770:I1115S	I	+	2	0	KCNU1	36912490	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.006000	0.12833	-3.730000	0.00114	-3.039000	0.00071	ATT		0.378	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ERLIN2	11160	broad.mit.edu	37	8	37609217	37609217	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:37609217G>T	ENST00000276461.5	+	10	790	c.723G>T	c.(721-723)aaG>aaT	p.K241N	ERLIN2_ENST00000519638.1_Missense_Mutation_p.K241N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	241	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.K241N(1)		NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTGAGAAGAAGATTTCAGAAA	0.527																																					p.K241N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G723T	8						.						105.0	94.0	98.0					8																	37609217		2203	4300	6503	37728375	SO:0001583	missense	11160	exon10			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.723G>T	8.37:g.37609217G>T	ENSP00000276461:p.Lys241Asn		37728375	NM_007175	A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227537	0.58668	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.66995	-0.24;-0.24;-0.24	5.87	4.99	0.66335	.	0.248188	0.45126	D	0.000390	T	0.56804	0.2010	L	0.58510	1.815	0.53005	D	0.999963	B	0.32968	0.392	B	0.27608	0.081	T	0.54403	-0.8299	9	.	.	.	-14.0602	8.9042	0.35512	0.2061:0.0:0.7939:0.0	.	241	O94905	ERLN2_HUMAN	N	241	ENSP00000276461:K241N;ENSP00000429621:K241N;ENSP00000428112:K241N	.	K	+	3	2	ERLIN2	37728375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.225000	0.32551	2.941000	0.99782	0.655000	0.94253	AAG		0.527	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175	
RAB11FIP1	80223	broad.mit.edu	37	8	37720419	37720419	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:37720419C>A	ENST00000330843.4	-	6	3858	c.3846G>T	c.(3844-3846)aaG>aaT	p.K1282N	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K648N|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K500N|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1282	Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.K1282N(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATTTACATCTTTCCTGCTT	0.498																																					p.K648N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1944T	8						.						151.0	140.0	144.0					8																	37720419		2203	4300	6503	37839577	SO:0001583	missense	80223	exon5			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3846G>T	8.37:g.37720419C>A	ENSP00000331342:p.Lys1282Asn		37839577	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605310	0.66445	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727	T;T;T	0.53206	1.25;1.2;0.63	6.16	3.43	0.39272	.	0.000000	0.64402	D	0.000005	T	0.64483	0.2602	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.995	T	0.64896	-0.6299	10	0.72032	D	0.01	-29.5194	11.6195	0.51108	0.0:0.8087:0.0:0.1913	.	500;648;1282	E7EX40;Q6WKZ4-3;Q6WKZ4	.;.;RFIP1_HUMAN	N	648;1282;500	ENSP00000287263:K648N;ENSP00000331342:K1282N;ENSP00000430009:K500N	ENSP00000287263:K648N	K	-	3	2	RAB11FIP1	37839577	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	1.884000	0.39668	0.485000	0.27652	0.650000	0.86243	AAG		0.498	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
RAB11FIP1	80223	broad.mit.edu	37	8	37728914	37728914	+	Missense_Mutation	SNP	C	C	T	rs201773104		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:37728914C>T	ENST00000330843.4	-	4	3418	c.3406G>A	c.(3406-3408)Gct>Act	p.A1136T	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1136					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.A1136T(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTCTACCAGCGGAGCCCTCT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1136T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3406A	8						.						109.0	118.0	115.0					8																	37728914		2203	4300	6503	37848072	SO:0001583	missense	80223	exon4			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3406G>A	8.37:g.37728914C>T	ENSP00000331342:p.Ala1136Thr	872	37848072	NM_001002814	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313623	0.23908	.	.	ENSG00000156675	ENST00000330843	T	0.41758	0.99	5.29	0.0514	0.14297	.	0.867765	0.09895	N	0.741866	T	0.12987	0.0315	N	0.11106	0.095	0.20926	N	0.999823	P;B	0.48350	0.909;0.41	B;B	0.32149	0.141;0.017	T	0.09335	-1.0679	10	0.11182	T	0.66	-1.0042	1.2767	0.02032	0.2411:0.4183:0.1345:0.2061	.	465;1136	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	T	1136	ENSP00000331342:A1136T	ENSP00000331342:A1136T	A	-	1	0	RAB11FIP1	37848072	0.003000	0.15002	0.106000	0.21319	0.878000	0.50629	0.172000	0.16704	-0.054000	0.13266	0.555000	0.69702	GCT		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
RAB11FIP1	80223	broad.mit.edu	37	8	37732508	37732508	+	Missense_Mutation	SNP	C	C	T	rs116955940		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:37732508C>T	ENST00000330843.4	-	3	1159	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E383K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E235K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E235K|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	383					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.E383K(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTGGAAGATTCGGAGAGCTGC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17594	0.001		0.0	False		,,,				2504	0.0				p.E383K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147A	8						.						58.0	59.0	59.0					8																	37732508		2203	4300	6503	37851666	SO:0001583	missense	80223	exon3			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1147G>A	8.37:g.37732508C>T	ENSP00000331342:p.Glu383Lys		37851666	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.353	0.831394	0.16820	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31769	2.24;2.7;1.5;1.48	4.68	4.68	0.58851	.	0.365246	0.23420	N	0.048361	T	0.24661	0.0598	L	0.57536	1.79	0.09310	N	1	P;B;P;B	0.48230	0.659;0.109;0.907;0.267	B;B;B;B	0.37304	0.056;0.039;0.246;0.025	T	0.29181	-1.0020	10	0.07325	T	0.83	-10.147	13.3886	0.60809	0.0:0.8422:0.1578:0.0	.	235;235;383;383	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	383;383;235;235	ENSP00000287263:E383K;ENSP00000331342:E383K;ENSP00000430009:E235K;ENSP00000430680:E235K	ENSP00000287263:E383K	E	-	1	0	RAB11FIP1	37851666	0.009000	0.17119	0.010000	0.14722	0.009000	0.06853	2.163000	0.42377	2.148000	0.66965	0.563000	0.77884	GAA		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
RAB11FIP1	80223	broad.mit.edu	37	8	37734711	37734711	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:37734711C>T	ENST00000330843.4	-	2	742	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E244K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E96K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E96K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	244					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.E244K(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCACTTTTTCTGGCTTTGAA	0.483																																					p.E244K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	8						.						160.0	151.0	154.0					8																	37734711		2203	4300	6503	37853869	SO:0001583	missense	80223	exon2			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.730G>A	8.37:g.37734711C>T	ENSP00000331342:p.Glu244Lys		37853869	NM_025151	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139671	0.37728	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.33438	2.17;2.58;1.43;1.41	5.63	5.63	0.86233	.	0.419375	0.23670	N	0.045735	T	0.21307	0.0513	L	0.31752	0.955	0.09310	N	1	B;B;P;P	0.35272	0.156;0.302;0.493;0.454	B;B;B;B	0.31101	0.037;0.085;0.124;0.078	T	0.15378	-1.0439	10	0.15066	T	0.55	-22.2235	15.0256	0.71667	0.0:0.8589:0.1411:0.0	.	96;96;244;244	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	K	244;244;96;96	ENSP00000287263:E244K;ENSP00000331342:E244K;ENSP00000430009:E96K;ENSP00000430680:E96K	ENSP00000287263:E244K	E	-	1	0	RAB11FIP1	37853869	0.056000	0.20664	0.992000	0.48379	0.013000	0.08279	2.565000	0.45939	2.644000	0.89710	0.655000	0.94253	GAA		0.483	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
DDHD2	23259	broad.mit.edu	37	8	38091916	38091916	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:38091916A>G	ENST00000397166.2	+	3	750	c.225A>G	c.(223-225)aaA>aaG	p.K75K	DDHD2_ENST00000520272.2_Silent_p.K75K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	75	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.K75K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TGAAAGGAAAAGGTTGTAATG	0.388																																					p.K75K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225G	8						.						149.0	159.0	155.0					8																	38091916		2203	4300	6503	38211073	SO:0001819	synonymous_variant	23259	exon3			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.225A>G	8.37:g.38091916A>G			38211073	NM_001164232	B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821596	0.50633	.	.	ENSG00000085788	ENST00000528358	.	.	.	5.79	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7652	0.34698	0.6832:0.0:0.3168:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDHD2	38211073	0.989000	0.36119	0.929000	0.37066	0.930000	0.56654	0.686000	0.25392	0.099000	0.17552	0.533000	0.62120	.		0.388	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291	
LETM2	137994	broad.mit.edu	37	8	38257839	38257839	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:38257839T>G	ENST00000379957.4	+	5	822	c.695T>G	c.(694-696)tTt>tGt	p.F232C	LETM2_ENST00000297720.5_Missense_Mutation_p.F137C|LETM2_ENST00000524874.1_Missense_Mutation_p.F184C|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000527710.1_Missense_Mutation_p.F18C|LETM2_ENST00000523983.2_Missense_Mutation_p.F185C	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	232	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.F137C(1)		NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTAGCAAAATTTCTTCAAGAA	0.398																																					p.F137C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T410G	8						.						78.0	70.0	73.0					8																	38257839		2203	4300	6503	38376996	SO:0001583	missense	137994	exon4			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.695T>G	8.37:g.38257839T>G	ENSP00000369291:p.Phe232Cys		38376996	NM_144652	A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37		.	.	.	.	.	.	.	.	.	.	T	24.7	4.559302	0.86335	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.77	5.77	0.91146	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.84542	0.0639	10	0.87932	D	0	-15.1134	16.0892	0.81080	0.0:0.0:0.0:1.0	.	29;232;184	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	C	137;184;232;185;18	ENSP00000297720:F137C;ENSP00000431211:F184C;ENSP00000369291:F232C;ENSP00000428765:F185C;ENSP00000434867:F18C	ENSP00000297720:F137C	F	+	2	0	LETM2	38376996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.584000	0.82572	2.208000	0.71279	0.454000	0.30748	TTT		0.398	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652	
FGFR1	2260	broad.mit.edu	37	8	38273413	38273413	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:38273413C>T	ENST00000447712.2	-	13	2770	c.1829G>A	c.(1828-1830)gGc>gAc	p.G610D	FGFR1_ENST00000356207.5_Missense_Mutation_p.G521D|FGFR1_ENST00000335922.5_Missense_Mutation_p.G600D|FGFR1_ENST00000397113.2_Missense_Mutation_p.G608D|FGFR1_ENST00000341462.5_Missense_Mutation_p.G610D|FGFR1_ENST00000397103.1_Missense_Mutation_p.G521D|FGFR1_ENST00000326324.6_Missense_Mutation_p.G519D|FGFR1_ENST00000532791.1_Missense_Mutation_p.G608D|FGFR1_ENST00000397108.4_Missense_Mutation_p.G608D|FGFR1_ENST00000425967.3_Missense_Mutation_p.G641D|FGFR1_ENST00000397091.5_Missense_Mutation_p.G608D	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	610	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.G610D(3)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATACTCCATGCCTCGGGCCAC	0.617		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														p.G608D	Melanoma(146;1153 1840 21453 21841 43625)		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1823A	8						.						50.0	57.0	55.0					8																	38273413		2183	4293	6476	38392570	SO:0001583	missense	2260	exon13			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1829G>A	8.37:g.38273413C>T	ENSP00000400162:p.Gly610Asp		38392570	NM_001174065	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	35	5.544553	0.96488	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99391	1.0925	10	0.87932	D	0	.	19.5496	0.95312	0.0:1.0:0.0:0.0	.	519;519;610;600;608	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	D	608;641;610;610;610;608;608;521;600;519;521;608	ENSP00000380280:G608D;ENSP00000393312:G641D;ENSP00000400162:G610D;ENSP00000340636:G610D;ENSP00000432972:G608D;ENSP00000380302:G608D;ENSP00000348537:G521D;ENSP00000337247:G600D;ENSP00000327229:G519D;ENSP00000380292:G521D;ENSP00000380297:G608D	ENSP00000311337:G610D	G	-	2	0	FGFR1	38392570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.688000	0.91661	0.655000	0.94253	GGC		0.617	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ADAM9	8754	broad.mit.edu	37	8	38865471	38865471	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:38865471G>T	ENST00000487273.2	+	2	242	c.164G>T	c.(163-165)aGa>aTa	p.R55I	ADAM9_ENST00000466936.1_Missense_Mutation_p.R55I|ADAM9_ENST00000481513.1_Missense_Mutation_p.R55I	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	55				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R55I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACTAGAGAAAGAAGAGAAGCC	0.313																																					p.R55I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164T	8						.						62.0	64.0	63.0					8																	38865471		2203	4296	6499	38984628	SO:0001583	missense	8754	exon2			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.164G>T	8.37:g.38865471G>T	ENSP00000419446:p.Arg55Ile		38984628	NM_003816	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849235	0.91277	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.06849	3.25;3.25;3.25	6.04	6.04	0.98038	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.60957	1.885	0.80722	D	1	D;D;D	0.76494	0.979;0.999;0.969	D;D;D	0.76575	0.917;0.988;0.925	T	0.00027	-1.2303	10	0.37606	T	0.19	.	16.0949	0.81114	0.0:0.0:1.0:0.0	.	55;55;55	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	I	55	ENSP00000420257:R55I;ENSP00000417066:R55I;ENSP00000419446:R55I	ENSP00000369249:R55I	R	+	2	0	ADAM9	38984628	0.998000	0.40836	0.995000	0.50966	0.993000	0.82548	1.434000	0.34958	2.873000	0.98535	0.563000	0.77884	AGA		0.313	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
ADAM9	8754	broad.mit.edu	37	8	38948860	38948860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:38948860G>T	ENST00000487273.2	+	20	2371	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	765				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E765*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACCTCCCAGAGAAGTTGTAAG	0.353																																					p.E765X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2293T	8						.						80.0	86.0	84.0					8																	38948860		2203	4300	6503	39068017	SO:0001587	stop_gained	8754	exon20			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2293G>T	8.37:g.38948860G>T	ENSP00000419446:p.Glu765*		39068017	NM_003816	B7ZLN7|Q10718|Q8NFM6	Nonsense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	36	5.939291	0.97128	.	.	ENSG00000168615	ENST00000487273	.	.	.	4.67	1.77	0.24775	.	1.042410	0.07504	N	0.907770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	6.7269	0.23361	0.0957:0.3456:0.5587:0.0	.	.	.	.	X	765	.	ENSP00000419446:E765X	E	+	1	0	ADAM9	39068017	0.996000	0.38824	0.813000	0.32504	0.440000	0.31957	1.274000	0.33132	0.258000	0.21686	-0.662000	0.03851	GAA		0.353	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
ADAM32	203102	broad.mit.edu	37	8	39091459	39091459	+	Missense_Mutation	SNP	G	G	A	rs199669397	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39091459G>A	ENST00000379907.4	+	16	1803	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ADAM32_ENST00000437682.2_Missense_Mutation_p.R460Q|ADAM32_ENST00000519315.1_Missense_Mutation_p.R453Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	559						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R558Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACCCTACTCGAAAGCCTTTC	0.323													G|||	2	0.000399361	0.0	0.0029	5008	,	,		12863	0.0		0.0	False		,,,				2504	0.0				p.R559Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1676A	8						.	G	GLN/ARG	1,3655		0,1,1827	82.0	70.0	73.0		1676	-6.4	0.0	8		73	2,8162		0,2,4080	yes	missense	ADAM32	NM_145004.5	43	0,3,5907	AA,AG,GG		0.0245,0.0274,0.0254	benign	559/788	39091459	3,11817	1828	4082	5910	39210616	SO:0001583	missense	203102	exon16			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1676G>A	8.37:g.39091459G>A	ENSP00000369238:p.Arg559Gln		39210616	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	10.24	1.294779	0.23564	2.74E-4	2.45E-4	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.21543	2.0;2.0;2.0	4.91	-6.44	0.01920	ADAM, cysteine-rich (2);	1.949330	0.03863	N	0.274390	T	0.05456	0.0144	N	0.17764	0.52	0.09310	N	1	P;P;B	0.35944	0.488;0.529;0.335	B;B;B	0.26770	0.073;0.025;0.069	T	0.19745	-1.0296	10	0.16896	T	0.51	.	1.9638	0.03391	0.4264:0.22:0.2424:0.1111	.	460;453;559	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	460;453;559	ENSP00000405978:R460Q;ENSP00000429422:R453Q;ENSP00000369238:R559Q	ENSP00000369238:R559Q	R	+	2	0	ADAM32	39210616	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.258000	0.08733	-1.871000	0.01138	-0.157000	0.13467	CGA		0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
ADAM18	8749	broad.mit.edu	37	8	39496048	39496048	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39496048G>T	ENST00000265707.5	+	10	937	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.D274Y	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	298	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D298Y(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAAAAGCTATGATGCAGGTAT	0.269																																					p.D298Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G892T	8						.						114.0	111.0	112.0					8																	39496048		2203	4297	6500	39615205	SO:0001583	missense	8749	exon10			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.892G>T	8.37:g.39496048G>T	ENSP00000265707:p.Asp298Tyr		39615205	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995181	0.19043	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09911	2.93;2.93	5.5	2.61	0.31194	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.755238	0.11784	N	0.529894	T	0.19087	0.0458	L	0.54323	1.7	0.09310	N	1	P;P	0.51537	0.933;0.946	P;P	0.56163	0.689;0.793	T	0.10019	-1.0648	10	0.87932	D	0	.	5.3379	0.15967	0.1704:0.0:0.6693:0.1603	.	274;298	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	Y	298;274;230	ENSP00000265707:D298Y;ENSP00000369195:D274Y	ENSP00000265707:D298Y	D	+	1	0	ADAM18	39615205	0.000000	0.05858	0.006000	0.13384	0.050000	0.14768	-0.027000	0.12371	0.880000	0.35969	0.644000	0.83932	GAT		0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM18	8749	broad.mit.edu	37	8	39502863	39502863	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39502863G>T	ENST00000265707.5	+	11	961	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.D282Y	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	306	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D306Y(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTAGTATCCAGATGCAATAGG	0.289																																					p.D306Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916T	8						.						107.0	101.0	103.0					8																	39502863		2203	4300	6503	39622020	SO:0001583	missense	8749	exon11			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.916G>T	8.37:g.39502863G>T	ENSP00000265707:p.Asp306Tyr		39622020	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938471	0.34189	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10668	2.85;2.85	5.19	4.24	0.50183	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.509560	0.16625	N	0.206330	T	0.19725	0.0474	L	0.53249	1.67	0.80722	D	1	P;P	0.51537	0.933;0.946	P;P	0.56163	0.689;0.793	T	0.00158	-1.1976	10	0.66056	D	0.02	.	7.8067	0.29206	0.113:0.0:0.887:0.0	.	282;306	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	Y	306;282;238	ENSP00000265707:D306Y;ENSP00000369195:D282Y	ENSP00000265707:D306Y	D	+	1	0	ADAM18	39622020	0.976000	0.34144	0.939000	0.37840	0.091000	0.18340	2.104000	0.41815	2.689000	0.91719	0.591000	0.81541	GAT		0.289	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM18	8749	broad.mit.edu	37	8	39525568	39525568	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39525568T>G	ENST00000265707.5	+	14	1423	c.1378T>G	c.(1378-1380)Ttt>Gtt	p.F460V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.F436V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	460	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F460V(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGAGTGTGATTTTACAGAGTA	0.388																																					p.F460V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1378G	8						.						201.0	192.0	195.0					8																	39525568		2203	4300	6503	39644725	SO:0001583	missense	8749	exon14			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1378T>G	8.37:g.39525568T>G	ENSP00000265707:p.Phe460Val		39644725	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685828	0.68157	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10763	2.84;2.84	5.36	4.18	0.49190	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.48767	D	0.000170	T	0.14657	0.0354	L	0.45470	1.425	0.80722	D	1	P;P	0.42248	0.733;0.774	P;P	0.48654	0.45;0.585	T	0.00710	-1.1599	10	0.51188	T	0.08	.	8.0116	0.30357	0.0:0.0921:0.0:0.9079	.	436;460	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	V	460;436;392	ENSP00000265707:F460V;ENSP00000369195:F436V	ENSP00000265707:F460V	F	+	1	0	ADAM18	39644725	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.672000	0.37523	2.257000	0.74773	0.459000	0.35465	TTT		0.388	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM18	8749	broad.mit.edu	37	8	39537696	39537696	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39537696G>A	ENST00000265707.5	+	16	1817	c.1772G>A	c.(1771-1773)gGa>gAa	p.G591E	ADAM18_ENST00000541111.1_Missense_Mutation_p.G5E|ADAM18_ENST00000379866.1_Missense_Mutation_p.G567E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	591	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G591E(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGATCAGATGGAACAGACAAT	0.353																																					p.G591E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1772A	8						.						88.0	82.0	84.0					8																	39537696		2203	4300	6503	39656853	SO:0001583	missense	8749	exon16			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1772G>A	8.37:g.39537696G>A	ENSP00000265707:p.Gly591Glu		39656853	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	1.539	-0.542200	0.04053	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111;ENST00000522198	T;T;T	0.28666	5.36;4.91;1.6	3.85	3.85	0.44370	ADAM, cysteine-rich (1);	0.000000	0.35615	N	0.003093	T	0.22627	0.0546	L	0.46741	1.465	0.32333	N	0.560776	B;B	0.15141	0.01;0.012	B;B	0.20577	0.018;0.03	T	0.19516	-1.0303	10	0.02654	T	1	.	11.5792	0.50881	0.0:0.0:1.0:0.0	.	567;591	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	E	591;567;5;523	ENSP00000265707:G591E;ENSP00000369195:G567E;ENSP00000444729:G5E	ENSP00000265707:G591E	G	+	2	0	ADAM18	39656853	0.896000	0.30565	0.983000	0.44433	0.860000	0.49131	0.603000	0.24149	2.451000	0.82905	0.563000	0.77884	GGA		0.353	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM2	2515	broad.mit.edu	37	8	39645689	39645689	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39645689C>T	ENST00000265708.4	-	9	827	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ADAM2_ENST00000347580.4_Missense_Mutation_p.E223K|ADAM2_ENST00000521880.1_Missense_Mutation_p.E242K|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E242K(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCATTAGCTTCTCCAGTGGTT	0.289																																					p.E242K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	8						.						94.0	95.0	94.0					8																	39645689		2203	4291	6494	39764846	SO:0001583	missense	2515	exon9			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.724G>A	8.37:g.39645689C>T	ENSP00000265708:p.Glu242Lys		39764846	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191491	0.38707	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.09538	2.97;2.97;2.97	4.57	2.74	0.32292	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.10121	0.0248	L	0.43152	1.355	0.21782	N	0.999545	B;B;B	0.19073	0.009;0.026;0.033	B;B;B	0.29176	0.099;0.087;0.099	T	0.38714	-0.9648	8	.	.	.	.	5.7646	0.18219	0.1918:0.7061:0.0:0.1022	.	242;223;242	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	K	223;242;242	ENSP00000343854:E223K;ENSP00000265708:E242K;ENSP00000429352:E242K	.	E	-	1	0	ADAM2	39764846	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	2.058000	0.41374	0.456000	0.26937	0.460000	0.39030	GAA		0.289	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
ADAM2	2515	broad.mit.edu	37	8	39678604	39678604	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39678604T>G	ENST00000265708.4	-	6	533	c.430A>C	c.(430-432)Aaa>Caa	p.K144Q	ADAM2_ENST00000347580.4_Missense_Mutation_p.K144Q|ADAM2_ENST00000521880.1_Missense_Mutation_p.K144Q|ADAM2_ENST00000379853.2_Missense_Mutation_p.K144Q|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	144					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K144Q(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCTTATGTTTTACTTGGTAA	0.328																																					p.K144Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430C	8						.						74.0	74.0	74.0					8																	39678604		2203	4296	6499	39797761	SO:0001583	missense	2515	exon6			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.430A>C	8.37:g.39678604T>G	ENSP00000265708:p.Lys144Gln		39797761	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937752	0.34189	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02280	4.97;4.36;5.22;5.18	5.47	5.47	0.80525	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	P;D;P;P	0.58970	0.672;0.984;0.779;0.672	B;P;P;P	0.61070	0.41;0.883;0.688;0.49	T	0.55379	-0.8150	8	.	.	.	.	8.1325	0.31035	0.0:0.0893:0.0:0.9107	.	144;144;144;144	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	Q	144	ENSP00000343854:K144Q;ENSP00000369182:K144Q;ENSP00000265708:K144Q;ENSP00000429352:K144Q	.	K	-	1	0	ADAM2	39797761	0.042000	0.20092	0.008000	0.14137	0.004000	0.04260	0.660000	0.25009	2.076000	0.62316	0.533000	0.62120	AAA		0.328	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
IDO2	169355	broad.mit.edu	37	8	39806779	39806779	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:39806779C>T	ENST00000389060.4	+	1	95	c.95C>T	c.(94-96)tCt>tTt	p.S32F	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.S45F			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	32					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.S45F(1)|p.S32C(1)|p.S45C(1)|p.S32F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTTCCAGATTCTCTGGTAAGG	0.383																																					p.S45F												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.C134T	8						.						54.0	51.0	52.0					8																	39806779		1867	4100	5967	39925936	SO:0001583	missense	169355	exon2			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.95C>T	8.37:g.39806779C>T	ENSP00000426447:p.Ser32Phe		39925936	NM_194294	A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37		.	.	.	.	.	.	.	.	.	.	-	15.46	2.838796	0.51057	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.43294	0.95;0.95	4.92	4.92	0.64577	.	0.064020	0.64402	D	0.000007	T	0.22437	0.0541	N	0.14661	0.345	0.25213	N	0.989962	P	0.41345	0.746	B	0.31812	0.136	T	0.14035	-1.0487	9	.	.	.	.	13.5172	0.61547	0.0:1.0:0.0:0.0	.	45	F5H5G0	.	F	45;32	ENSP00000443432:S45F;ENSP00000426447:S32F	.	S	+	2	0	IDO2	39925936	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.550000	0.53691	2.550000	0.86006	0.645000	0.84053	TCT		0.383	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294	
ZMAT4	79698	broad.mit.edu	37	8	40683097	40683097	+	Silent	SNP	G	G	A	rs375382251		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:40683097G>A	ENST00000297737.6	-	2	245	c.99C>T	c.(97-99)taC>taT	p.Y33Y	ZMAT4_ENST00000523823.1_5'UTR|ZMAT4_ENST00000315769.7_Silent_p.Y33Y	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	33						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y33Y(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCCTTACCTCGTAGTGGGCCA	0.522																																					p.Y33Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C99T	8						.	G	,	3,4337		0,3,2167	49.0	41.0	44.0		99,99	-0.4	1.0	8		44	0,8446		0,0,4223	no	coding-synonymous,coding-synonymous	ZMAT4	NM_001135731.1,NM_024645.2	,	0,3,6390	AA,AG,GG		0.0,0.0691,0.0235	,	33/154,33/230	40683097	3,12783	2170	4223	6393	40802254	SO:0001819	synonymous_variant	79698	exon2			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.99C>T	8.37:g.40683097G>A			40802254	NM_024645	Q8WUT8	Silent	SNP	ENST00000297737.6	37	CCDS34885.1																																																																																				0.522	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
AGPAT6	137964	broad.mit.edu	37	8	41467286	41467286	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41467286C>T	ENST00000396987.3	+	4	1275	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	116					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.F116F(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTGACATTTTCTACTTTTGCC	0.463																																					p.F116F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	8						.						104.0	97.0	99.0					8																	41467286		2203	4300	6503	41586443	SO:0001819	synonymous_variant	137964	exon4			AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.348C>T	8.37:g.41467286C>T			41586443	NM_178819	Q86V89	Silent	SNP	ENST00000396987.3	37	CCDS6117.1																																																																																				0.463	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819	
ANK1	286	broad.mit.edu	37	8	41559121	41559121	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41559121C>T	ENST00000347528.4	-	22	2491	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	ANK1_ENST00000352337.4_Missense_Mutation_p.R803Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R803Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R803Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R836Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R803Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R803Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	803	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R803Q(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAACTCATTCGATGCTTATC	0.488											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R803Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2408A	8						.						120.0	110.0	113.0					8																	41559121		2203	4300	6503	41678278	SO:0001583	missense	286	exon22			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2408G>A	8.37:g.41559121C>T	ENSP00000339620:p.Arg803Gln	902	41678278	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639923	0.87760	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.97	5.07	0.68467	Ankyrin repeat-containing domain (1);	0.060741	0.64402	D	0.000003	T	0.33990	0.0882	M	0.81239	2.535	0.58432	D	0.999999	D;D;B;D;D;D	0.71674	0.985;0.998;0.24;0.987;0.974;0.978	P;B;B;B;P;B	0.49683	0.619;0.419;0.011;0.343;0.619;0.251	T	0.33574	-0.9863	10	0.54805	T	0.06	.	16.5849	0.84725	0.1392:0.8608:0.0:0.0	.	836;803;803;803;803;111	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	803;803;803;803;803;803;836;803	ENSP00000339620:R803Q;ENSP00000289734:R803Q;ENSP00000369082:R803Q;ENSP00000380149:R803Q;ENSP00000380147:R803Q;ENSP00000309131:R803Q;ENSP00000265709:R836Q	ENSP00000265709:R836Q	R	-	2	0	ANK1	41678278	0.999000	0.42202	0.997000	0.53966	0.735000	0.41995	2.165000	0.42396	1.454000	0.47793	0.655000	0.94253	CGA		0.488	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
KAT6A	7994	broad.mit.edu	37	8	41790573	41790573	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41790573T>G	ENST00000396930.3	-	18	5708	c.5165A>C	c.(5164-5166)gAa>gCa	p.E1722A	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1722A|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1722A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1722	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1722A(1)									GCTTCCAGATTCTGGTATCTC	0.542																																					p.E1722A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5165C	8						.						109.0	114.0	112.0					8																	41790573		2203	4300	6503	41909730	SO:0001583	missense	7994	exon18			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5165A>C	8.37:g.41790573T>G	ENSP00000380136:p.Glu1722Ala		41909730	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	8.337	0.827840	0.16749	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.72725	-0.68;-0.68;-0.68	5.63	4.46	0.54185	.	0.148147	0.46145	D	0.000303	T	0.60051	0.2239	L	0.34521	1.04	0.53688	D	0.999971	B	0.24483	0.104	B	0.27608	0.081	T	0.53885	-0.8375	10	0.33141	T	0.24	-11.9704	12.0549	0.53529	0.1293:0.0:0.0:0.8706	.	1722	Q92794	KAT6A_HUMAN	A	1722	ENSP00000265713:E1722A;ENSP00000385888:E1722A;ENSP00000380136:E1722A	ENSP00000265713:E1722A	E	-	2	0	KAT6A	41909730	1.000000	0.71417	0.359000	0.25824	0.886000	0.51366	5.912000	0.69948	0.942000	0.37525	0.528000	0.53228	GAA		0.542	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41791516	41791516	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41791516C>T	ENST00000396930.3	-	18	4765	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1408K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1408K	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1408					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1408K(1)									TCTTTTAATTCGATTAACTCT	0.502																																					p.E1408K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4222A	8						.						103.0	96.0	98.0					8																	41791516		2203	4300	6503	41910673	SO:0001583	missense	7994	exon18			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4222G>A	8.37:g.41791516C>T	ENSP00000380136:p.Glu1408Lys		41910673	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999255	0.35226	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60299	0.2;0.2;0.2	5.97	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.56963	0.2021	N	0.24115	0.695	0.33902	D	0.638645	D	0.58620	0.983	P	0.57468	0.821	T	0.60214	-0.7307	10	0.10902	T	0.67	-17.4461	17.4623	0.87623	0.0:0.876:0.124:0.0	.	1408	Q92794	KAT6A_HUMAN	K	1408	ENSP00000265713:E1408K;ENSP00000385888:E1408K;ENSP00000380136:E1408K	ENSP00000265713:E1408K	E	-	1	0	KAT6A	41910673	1.000000	0.71417	0.013000	0.15412	0.022000	0.10575	4.752000	0.62176	1.520000	0.48965	0.655000	0.94253	GAA		0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41798926	41798926	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41798926C>A	ENST00000396930.3	-	16	3016	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	KAT6A_ENST00000406337.1_Missense_Mutation_p.D825Y|KAT6A_ENST00000265713.2_Missense_Mutation_p.D825Y	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	825					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D825Y(1)									GAATAAGAATCTTGTTCTTTG	0.363																																					p.D825Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2473T	8						.						66.0	64.0	65.0					8																	41798926		2203	4300	6503	41918083	SO:0001583	missense	7994	exon16			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2473G>T	8.37:g.41798926C>A	ENSP00000380136:p.Asp825Tyr		41918083	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234852	0.39498	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60424	0.19;0.19;0.19	5.67	5.67	0.87782	.	0.168787	0.40222	N	0.001143	T	0.52917	0.1764	N	0.24115	0.695	0.40658	D	0.982105	P	0.48503	0.911	P	0.46585	0.521	T	0.59563	-0.7431	10	0.72032	D	0.01	-14.6466	17.9519	0.89056	0.0:1.0:0.0:0.0	.	825	Q92794	KAT6A_HUMAN	Y	825;825;825;405	ENSP00000265713:D825Y;ENSP00000385888:D825Y;ENSP00000380136:D825Y	ENSP00000265713:D825Y	D	-	1	0	KAT6A	41918083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.038000	0.64177	2.666000	0.90696	0.655000	0.94253	GAT		0.363	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41806765	41806765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:41806765C>A	ENST00000396930.3	-	11	2258	c.1715G>T	c.(1714-1716)aGa>aTa	p.R572I	KAT6A_ENST00000406337.1_Missense_Mutation_p.R572I|KAT6A_ENST00000265713.2_Missense_Mutation_p.R572I|KAT6A_ENST00000485568.1_Missense_Mutation_p.R572I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	572	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R572I(1)									ATTATTCTTTCTGTAAATCTC	0.353																																					p.R572I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1715T	8						.						57.0	46.0	50.0					8																	41806765		2188	4279	6467	41925922	SO:0001583	missense	7994	exon11			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1715G>T	8.37:g.41806765C>A	ENSP00000380136:p.Arg572Ile		41925922	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826328	0.50739	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.87571	-0.23;-0.23;-0.23;-2.27	5.24	4.37	0.52481	.	0.280549	0.29444	N	0.012134	D	0.93680	0.7981	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.988;0.997	P;D	0.65874	0.847;0.939	D	0.94658	0.7845	10	0.87932	D	0	-6.8087	14.1526	0.65395	0.0:0.9273:0.0:0.0727	.	572;572	A5PLL3;Q92794	.;KAT6A_HUMAN	I	572;572;572;152;572	ENSP00000265713:R572I;ENSP00000385888:R572I;ENSP00000380136:R572I;ENSP00000430606:R572I	ENSP00000265713:R572I	R	-	2	0	KAT6A	41925922	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	1.351000	0.45789	0.591000	0.81541	AGA		0.353	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PLAT	5327	broad.mit.edu	37	8	42037541	42037541	+	Missense_Mutation	SNP	C	C	A	rs540586282		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42037541C>A	ENST00000220809.4	-	12	1522	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.E376D|PLAT_ENST00000524009.1_Missense_Mutation_p.E333D|PLAT_ENST00000429710.2_Missense_Mutation_p.E296D|PLAT_ENST00000429089.2_Missense_Mutation_p.E422D|PLAT_ENST00000519510.1_Missense_Mutation_p.E359D	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	422	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.E422D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CCACGCTGCTCTCCTGGGCAC	0.677																																					p.E376D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1128T	8						.						35.0	27.0	30.0					8																	42037541		2203	4299	6502	42156698	SO:0001583	missense	5327	exon11				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1266G>T	8.37:g.42037541C>A	ENSP00000220809:p.Glu422Asp		42156698	NM_033011	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365345	0.24684	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.39	0.863	0.19062	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.239889	0.49305	D	0.000146	T	0.80763	0.4685	L	0.42632	1.34	0.80722	D	1	B;B;B;B;B;B	0.15930	0.01;0.01;0.011;0.015;0.007;0.011	B;B;B;B;B;B	0.23419	0.015;0.015;0.038;0.046;0.017;0.031	T	0.66248	-0.5971	10	0.25106	T	0.35	.	4.5426	0.12066	0.0:0.4525:0.1681:0.3794	.	296;333;359;422;376;422	B4DNJ1;B4DN26;B4DV92;B8ZX62;P00750-3;P00750	.;.;.;.;.;TPA_HUMAN	D	422;422;376;359;296;333	ENSP00000392045:E422D;ENSP00000220809:E422D;ENSP00000270188:E376D;ENSP00000428886:E359D;ENSP00000407861:E296D;ENSP00000429401:E333D	ENSP00000220809:E422D	E	-	3	2	PLAT	42156698	0.987000	0.35691	0.982000	0.44146	0.018000	0.09664	0.182000	0.16900	0.316000	0.23135	0.655000	0.94253	GAG		0.677	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
IKBKB	3551	broad.mit.edu	37	8	42176850	42176850	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42176850C>A	ENST00000520810.1	+	14	1613	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y	IKBKB_ENST00000379708.3_Missense_Mutation_p.S253Y|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000520835.1_Missense_Mutation_p.S474Y|IKBKB_ENST00000416505.2_Missense_Mutation_p.S417Y	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	476	Leucine-zipper.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.S476Y(1)		breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GCTTCCATGTCTCAGCAGCTC	0.493											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S474Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421A	8						.						109.0	101.0	104.0					8																	42176850		2203	4300	6503	42296007	SO:0001583	missense	3551	exon13			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1427C>A	8.37:g.42176850C>A	ENSP00000430684:p.Ser476Tyr	906	42296007	NM_001190720	B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708716	0.15239	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.76186	-0.91;-1.0;-0.82;2.79	5.95	5.95	0.96441	.	0.239442	0.46442	D	0.000297	T	0.59004	0.2162	L	0.32530	0.975	0.33145	D	0.544893	B;B;B;B;B	0.30455	0.001;0.019;0.28;0.007;0.003	B;B;B;B;B	0.27500	0.001;0.049;0.08;0.022;0.013	T	0.59091	-0.7519	10	0.02654	T	1	-11.7506	13.2201	0.59883	0.0:0.9269:0.0:0.0731	.	417;474;253;427;476	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	Y	476;417;474;253	ENSP00000430684:S476Y;ENSP00000404920:S417Y;ENSP00000430868:S474Y;ENSP00000369030:S253Y	ENSP00000369030:S253Y	S	+	2	0	IKBKB	42296007	0.995000	0.38212	0.997000	0.53966	0.992000	0.81027	3.105000	0.50314	2.817000	0.96982	0.563000	0.77884	TCT		0.493	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		
POLB	5423	broad.mit.edu	37	8	42214718	42214718	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42214718C>T	ENST00000265421.4	+	8	624	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.R152C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AAGAATTCCTCGTGAAGAGAT	0.299								DNA polymerases (catalytic subunits)																													p.R152C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454T	8						.						62.0	67.0	66.0					8																	42214718		2203	4297	6500	42333875	SO:0001583	missense	5423	exon8				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.454C>T	8.37:g.42214718C>T	ENSP00000265421:p.Arg152Cys		42333875	NM_002690	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.868392|3.868392	0.72065|0.72065	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000532157;ENST00000265421;ENST00000518925|ENST00000521290	T;T|.	0.51325|.	0.71;0.71|.	5.93|5.93	4.98|4.98	0.66077|0.66077	DNA-directed DNA polymerase X (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85944|0.85944	0.5815|0.5815	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.89026|0.89026	0.3438|0.3438	10|5	0.87932|.	D|.	0|.	2.3915|2.3915	15.4411|15.4411	0.75184|0.75184	0.1481:0.8518:0.0:0.0|0.1481:0.8518:0.0:0.0	.|.	152;152|.	Q53EV2;P06746|.	.;DPOLB_HUMAN|.	C|L	38;152;187|82	ENSP00000265421:R152C;ENSP00000430784:R187C|.	ENSP00000265421:R152C|.	R|S	+|+	1|2	0|0	POLB|POLB	42333875|42333875	0.969000|0.969000	0.33509|0.33509	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.398000|1.398000	0.34554|0.34554	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.299	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	
POLB	5423	broad.mit.edu	37	8	42229092	42229092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42229092G>T	ENST00000265421.4	+	14	1095	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	POLB_ENST00000538005.1_Nonsense_Mutation_p.E155*|POLB_ENST00000521492.1_Nonsense_Mutation_p.E28*	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	309					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.E309*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGTTGCAGGAGAACCCCTGCC	0.448								DNA polymerases (catalytic subunits)																													p.E309X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G925T	8						.						41.0	44.0	43.0					8																	42229092		2203	4300	6503	42348249	SO:0001587	stop_gained	5423	exon14				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.925G>T	8.37:g.42229092G>T	ENSP00000265421:p.Glu309*		42348249	NM_002690	B2RC78|Q3KP48|Q6FI34	Nonsense_Mutation	SNP	ENST00000265421.4	37	CCDS6129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.401068|7.401068	0.98262|0.98262	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000265421;ENST00000538005;ENST00000521492|ENST00000521290;ENST00000518579;ENST00000517393	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.226696|.	0.47093|.	D|.	0.000244|.	.|T	.|0.74589	.|0.3736	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71866	.|-0.4463	.|4	0.42905|.	T|.	0.14|.	-0.3598|-0.3598	17.8336|17.8336	0.88689|0.88689	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	309;155;28|210;189;56	.|.	ENSP00000265421:E309X|.	E|R	+|+	1|2	0|0	POLB|POLB	42348249|42348249	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.800000|0.800000	0.45204|0.45204	9.688000|9.688000	0.98670|0.98670	2.803000|2.803000	0.96430|0.96430	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.448	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1	NM_002690	
CHRNB3	1142	broad.mit.edu	37	8	42563941	42563941	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42563941G>A	ENST00000289957.2	+	2	262	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RP11-412B14.1_ENST00000527318.1_RNA	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	45					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.R45H(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AAATGGGTCCGCCCTGTATTA	0.408																																					p.R45H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G134A	8						.						118.0	114.0	115.0					8																	42563941		2203	4300	6503	42683098	SO:0001583	missense	1142	exon2			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.134G>A	8.37:g.42563941G>A	ENSP00000289957:p.Arg45His		42683098	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	31	5.083844	0.94050	.	.	ENSG00000147432	ENST00000289957	T	0.62498	0.02	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83921	0.0301	9	.	.	.	.	17.4865	0.87689	0.0:0.0:1.0:0.0	.	45	Q05901	ACHB3_HUMAN	H	45	ENSP00000289957:R45H	.	R	+	2	0	CHRNB3	42683098	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.022000	0.93678	2.745000	0.94114	0.650000	0.86243	CGC		0.408	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
CHRNB3	1142	broad.mit.edu	37	8	42586825	42586825	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42586825C>T	ENST00000289957.2	+	5	503	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.F125F(2)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ACGGCCGCTTCGAAGGCTCCC	0.507																																					p.F125F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C375T	8						.						49.0	48.0	48.0					8																	42586825		2203	4300	6503	42705982	SO:0001819	synonymous_variant	1142	exon5			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.375C>T	8.37:g.42586825C>T			42705982	NM_000749	Q15827	Silent	SNP	ENST00000289957.2	37	CCDS6134.1																																																																																				0.507	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
CHRNB3	1142	broad.mit.edu	37	8	42587025	42587025	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42587025G>T	ENST00000289957.2	+	5	703	c.575G>T	c.(574-576)aGa>aTa	p.R192I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	192					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.R192I(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	AATGTCGACAGAAAAGACTTC	0.453																																					p.R192I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575T	8						.						85.0	81.0	82.0					8																	42587025		2203	4300	6503	42706182	SO:0001583	missense	1142	exon5			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.575G>T	8.37:g.42587025G>T	ENSP00000289957:p.Arg192Ile		42706182	NM_000749	Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	16.24	3.068760	0.55539	.	.	ENSG00000147432	ENST00000289957	T	0.78126	-1.15	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.78761	0.4334	N	0.21282	0.65	0.80722	D	1	D	0.53745	0.962	P	0.60789	0.879	T	0.80471	-0.1368	10	0.59425	D	0.04	.	14.3706	0.66836	0.0:0.0:0.8162:0.1838	.	192	Q05901	ACHB3_HUMAN	I	192	ENSP00000289957:R192I	ENSP00000289957:R192I	R	+	2	0	CHRNB3	42706182	0.865000	0.29922	0.885000	0.34714	0.428000	0.31595	2.150000	0.42254	2.637000	0.89404	0.650000	0.86243	AGA		0.453	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
HOOK3	84376	broad.mit.edu	37	8	42761366	42761366	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42761366G>A	ENST00000307602.4	+	2	308	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	36	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.T36T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGATTTAACGAATGGGGTTG	0.408			T	RET	papillary thyroid																																p.T36T			Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G108A	8						.						127.0	130.0	129.0					8																	42761366		2203	4300	6503	42880523	SO:0001819	synonymous_variant	84376	exon2			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.108G>A	8.37:g.42761366G>A			42880523	NM_032410	D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	CCDS6139.1																																																																																				0.408	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
HOOK3	84376	broad.mit.edu	37	8	42841933	42841933	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42841933G>T	ENST00000307602.4	+	15	1727	c.1527G>T	c.(1525-1527)gaG>gaT	p.E509D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	509					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.E509D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TGGAGACAGAGAATAGGTAGA	0.418			T	RET	papillary thyroid																																p.E509D			Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1527T	8						.						111.0	119.0	116.0					8																	42841933		2203	4300	6503	42961090	SO:0001583	missense	84376	exon15			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1527G>T	8.37:g.42841933G>T	ENSP00000305699:p.Glu509Asp		42961090	NM_032410	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227575	0.39399	.	.	ENSG00000168172	ENST00000307602	T	0.19105	2.17	5.07	0.124	0.14714	.	0.097389	0.64402	D	0.000002	T	0.18087	0.0434	L	0.55481	1.735	0.53688	D	0.999978	B	0.15473	0.013	B	0.20955	0.032	T	0.07462	-1.0771	10	0.31617	T	0.26	-19.2221	9.5839	0.39504	0.5143:0.0:0.4857:0.0	.	509	Q86VS8	HOOK3_HUMAN	D	509	ENSP00000305699:E509D	ENSP00000305699:E509D	E	+	3	2	HOOK3	42961090	0.992000	0.36948	0.997000	0.53966	0.871000	0.50021	0.255000	0.18333	0.197000	0.20387	-0.261000	0.10672	GAG		0.418	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
HOOK3	84376	broad.mit.edu	37	8	42852746	42852746	+	Missense_Mutation	SNP	A	A	C	rs149673072	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:42852746A>C	ENST00000307602.4	+	16	1786	c.1586A>C	c.(1585-1587)aAa>aCa	p.K529T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	529					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.K529T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAATTACAAAAATCTTTACAG	0.333			T	RET	papillary thyroid								A|||	2	0.000399361	0.0	0.0	5008	,	,		18133	0.002		0.0	False		,,,				2504	0.0				p.K529T			Dom	yes		8	8p11.21	84376	hook homolog 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1586C	8						.						76.0	78.0	77.0					8																	42852746		2203	4300	6503	42971903	SO:0001583	missense	84376	exon16			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1586A>C	8.37:g.42852746A>C	ENSP00000305699:p.Lys529Thr		42971903	NM_032410	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	20.8	4.054205	0.75960	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.27557	1.66;1.66	5.29	5.29	0.74685	.	0.091585	0.64402	D	0.000001	T	0.48732	0.1516	L	0.49126	1.545	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.35400	-0.9790	10	0.33141	T	0.24	-29.4011	15.1843	0.72986	1.0:0.0:0.0:0.0	.	529	Q86VS8	HOOK3_HUMAN	T	529;5	ENSP00000305699:K529T;ENSP00000433953:K5T	ENSP00000305699:K529T	K	+	2	0	HOOK3	42971903	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.028000	0.64115	2.134000	0.65973	0.533000	0.62120	AAA		0.333	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
SPIDR	23514	broad.mit.edu	37	8	48586409	48586409	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:48586409C>T	ENST00000297423.4	+	11	1975	c.1591C>T	c.(1591-1593)Cac>Tac	p.H531Y	SPIDR_ENST00000518074.1_Missense_Mutation_p.H471Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.H6Y|SPIDR_ENST00000541342.1_Missense_Mutation_p.H461Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	531					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.H531Y(1)									CGGTGAAGTGCACTTGGAGTT	0.468																																					p.H531Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1591T	8						.						165.0	169.0	167.0					8																	48586409		1953	4141	6094	48748962	SO:0001583	missense	23514	exon11			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.1591C>T	8.37:g.48586409C>T	ENSP00000297423:p.His531Tyr		48748962	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	6.355	0.433545	0.12045	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.	.	.	5.34	1.02	0.19986	.	0.430708	0.25294	N	0.031701	T	0.22589	0.0545	N	0.16656	0.425	0.09310	N	1	B;B;B;B;B;B;B;B	0.12013	0.002;0.002;0.005;0.004;0.002;0.004;0.004;0.004	B;B;B;B;B;B;B;B	0.14578	0.006;0.006;0.011;0.004;0.006;0.004;0.006;0.004	T	0.14531	-1.0469	9	0.30854	T	0.27	.	7.3377	0.26619	0.0:0.5707:0.0:0.4293	.	21;36;471;461;531;220;6;531	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.;.;.;.;.;.;.;K0146_HUMAN	Y	531;471;461;36;6;6	.	ENSP00000297423:H531Y	H	+	1	0	KIAA0146	48748962	0.003000	0.15002	0.003000	0.11579	0.482000	0.33219	0.187000	0.16998	-0.119000	0.11830	0.591000	0.81541	CAC		0.468	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394	
PRKDC	5591	broad.mit.edu	37	8	48749969	48749969	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:48749969C>T	ENST00000314191.2	-	58	7618	c.7562G>A	c.(7561-7563)cGa>cAa	p.R2521Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2521Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2522	KIP-binding.				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.R2522Q(1)|p.R2521Q(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)	CCAGAAATTTCGAATAATTAA	0.383								Non-homologous end-joining																													p.E2522K	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7564A	8						.						36.0	34.0	35.0					8																	48749969		1833	4080	5913	48912522	SO:0001583	missense	5591	exon57				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.7562G>A	8.37:g.48749969C>T	ENSP00000313420:p.Arg2521Gln		48912522	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	16.07	3.019846	0.54576	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02258	4.44;4.37	5.79	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.02047	0.0064	L	0.38531	1.155	0.53688	D	0.999972	P;P	0.47350	0.894;0.79	B;B	0.31337	0.128;0.128	T	0.66548	-0.5896	10	0.31617	T	0.26	.	13.9256	0.63961	0.0:0.9274:0.0:0.0726	.	2521;2522	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2521	ENSP00000313420:R2521Q;ENSP00000345182:R2521Q	ENSP00000313420:R2521Q	R	-	2	0	PRKDC	48912522	1.000000	0.71417	0.996000	0.52242	0.732000	0.41865	7.487000	0.81328	1.459000	0.47892	-0.229000	0.12294	CGA		0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48840366	48840366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:48840366C>A	ENST00000314191.2	-	20	2280	c.2224G>T	c.(2224-2226)Gaa>Taa	p.E742*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E742*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	742					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.E742*(2)		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)	ACATCGAGTTCAATGATGTTG	0.448								Non-homologous end-joining																													p.E742X	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2224T	8						.						124.0	130.0	128.0					8																	48840366		2027	4177	6204	49002919	SO:0001587	stop_gained	5591	exon20				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.2224G>T	8.37:g.48840366C>A	ENSP00000313420:p.Glu742*		49002919	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	C	29.0	4.967554	0.92855	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.35	3.5	0.40072	.	0.575230	0.18362	N	0.143560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	5.7097	0.17929	0.0:0.6246:0.0:0.3754	.	.	.	.	X	742	.	ENSP00000313420:E742X	E	-	1	0	PRKDC	49002919	1.000000	0.71417	0.997000	0.53966	0.047000	0.14425	3.011000	0.49567	1.354000	0.45846	0.563000	0.77884	GAA		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
EFCAB1	79645	broad.mit.edu	37	8	49641672	49641672	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:49641672C>A	ENST00000262103.3	-	5	585	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	EFCAB1_ENST00000521002.1_Splice_Site|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D117Y|EFCAB1_ENST00000433756.1_Missense_Mutation_p.D117Y	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	169	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D169Y(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGTTCATAGTCTGCAAAAGAC	0.428																																					p.D169Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505T	8						.						115.0	99.0	104.0					8																	49641672		2203	4300	6503	49804225	SO:0001583	missense	79645	exon5				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.505G>T	8.37:g.49641672C>A	ENSP00000262103:p.Asp169Tyr		49804225	NM_024593	B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.180572|4.180572	0.78677|0.78677	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	T;T;T|.	0.74842|.	-0.88;-0.88;-0.88|.	5.22|5.22	5.22|5.22	0.72569|0.72569	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87517|0.87517	0.6197|0.6197	H|H	0.96333|0.96333	3.805|3.805	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.91062|0.91062	0.4886|0.4886	9|5	.|.	.|.	.|.	.|.	16.3211|16.3211	0.82951|0.82951	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	117;169|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	Y|I	117;169;169;117|35;86	ENSP00000400873:D117Y;ENSP00000262103:D169Y;ENSP00000430765:D117Y|.	.|.	D|R	-|-	1|2	0|0	EFCAB1|EFCAB1	49804225|49804225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.352000|7.352000	0.79404|0.79404	2.710000|2.710000	0.92621|0.92621	0.555000|0.555000	0.69702|0.69702	GAC|AGA		0.428	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593	
C8orf22	492307	broad.mit.edu	37	8	49986642	49986642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:49986642C>A	ENST00000303202.8	+	3	253	c.80C>A	c.(79-81)tCt>tAt	p.S27Y	C8orf22_ENST00000517663.1_Missense_Mutation_p.S27Y|C8orf22_ENST00000399653.4_Missense_Mutation_p.S27Y|C8orf22_ENST00000522267.1_Missense_Mutation_p.S27Y	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)			p.S27Y(1)|p.S27F(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCAGTTAGTTCTTTAACTAGC	0.318																																					p.S27Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C80A	8						.						103.0	98.0	100.0					8																	49986642		1836	4093	5929	50149195	SO:0001583	missense	492307	exon3			BC017981	CCDS47854.1, CCDS59101.1, CCDS59102.1	8q11.21	2012-04-11			ENSG00000168333	ENSG00000168333			31745	protein-coding gene	gene with protein product							Standard	NM_001007176		Approved		uc031tba.1	Q8WWR9	OTTHUMG00000164217	ENST00000303202.8:c.80C>A	8.37:g.49986642C>A	ENSP00000304926:p.Ser27Tyr		50149195	NM_001007176	G3V137|Q8WVI1	Missense_Mutation	SNP	ENST00000303202.8	37	CCDS59101.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420823	0.25639	.	.	ENSG00000168333	ENST00000517663;ENST00000522267;ENST00000399653;ENST00000303202	.	.	.	4.06	4.06	0.47325	.	0.000000	0.43747	U	0.000526	T	0.64057	0.2564	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55477	-0.8135	7	.	.	.	-16.5602	11.7297	0.51730	0.0:1.0:0.0:0.0	.	27	Q8WWR9-2	.	Y	27	.	.	S	+	2	0	C8orf22	50149195	0.224000	0.23674	0.017000	0.16124	0.074000	0.17049	1.796000	0.38794	1.803000	0.52742	0.467000	0.42956	TCT		0.318	C8orf22-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377837.1	NM_001007176	
SNTG1	54212	broad.mit.edu	37	8	51415350	51415350	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:51415350C>T	ENST00000522124.1	+	9	1037	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SNTG1_ENST00000276467.5_Missense_Mutation_p.R126W|SNTG1_ENST00000517473.1_Missense_Mutation_p.R126W|SNTG1_ENST00000518864.1_Missense_Mutation_p.R126W	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	126	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.R126W(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGGTTCTTCGGAATGCTGG	0.338																																					p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	8						.						67.0	65.0	66.0					8																	51415350		2203	4300	6503	51577903	SO:0001583	missense	54212	exon9			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.376C>T	8.37:g.51415350C>T	ENSP00000429842:p.Arg126Trp		51577903	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243550	0.58995	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.86	2.98	0.34508	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.70092	-0.4967	10	0.87932	D	0	.	11.7228	0.51691	0.464:0.536:0.0:0.0	.	126;126	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	W	126	ENSP00000429276:R126W;ENSP00000429842:R126W;ENSP00000431123:R126W;ENSP00000276467:R126W	ENSP00000276467:R126W	R	+	1	2	SNTG1	51577903	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.413000	0.44618	0.502000	0.28037	0.655000	0.94253	CGG		0.338	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
SNTG1	54212	broad.mit.edu	37	8	51617192	51617192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:51617192C>A	ENST00000522124.1	+	16	1732	c.1071C>A	c.(1069-1071)tgC>tgA	p.C357*	SNTG1_ENST00000276467.5_Nonsense_Mutation_p.C357*|SNTG1_ENST00000517473.1_Nonsense_Mutation_p.C357*|SNTG1_ENST00000518864.1_Nonsense_Mutation_p.C357*	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.C357*(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGAAACAGTGCTTCACCGTGC	0.547																																					p.C357X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1071A	8						.						149.0	123.0	132.0					8																	51617192		2203	4300	6503	51779745	SO:0001587	stop_gained	54212	exon16			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1071C>A	8.37:g.51617192C>A	ENSP00000429842:p.Cys357*		51779745	NM_018967	Q2M3Q0|Q9NY98	Nonsense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	37	6.392568	0.97529	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.19	3.39	0.38822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2713	10.1549	0.42816	0.0:0.773:0.0:0.227	.	.	.	.	X	357	.	ENSP00000276467:C357X	C	+	3	2	SNTG1	51779745	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	1.811000	0.38942	0.680000	0.31366	0.643000	0.83706	TGC		0.547	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
PXDNL	137902	broad.mit.edu	37	8	52233367	52233367	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:52233367C>A	ENST00000356297.4	-	22	4337	c.4237G>T	c.(4237-4239)Gac>Tac	p.D1413Y	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1413	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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.D1413Y(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)				TGAGTGCAGTCTTCTTTCATC	0.507																																					p.D1413Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4237T	8						.						131.0	143.0	139.0					8																	52233367		1933	4132	6065	52395920	SO:0001583	missense	137902	exon22				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.4237G>T	8.37:g.52233367C>A	ENSP00000348645:p.Asp1413Tyr		52395920	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.814101|1.814101	0.32053|0.32053	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.64803|.	-0.12|.	4.26|4.26	4.26|4.26	0.50523|0.50523	von Willebrand factor, type C (3);|.	.|.	.|.	.|.	.|.	T|T	0.55114|0.55114	0.1900|0.1900	L|L	0.38649|0.38649	1.16|1.16	0.80722|0.80722	D|D	1|1	P|.	0.42993|.	0.797|.	P|.	0.56163|.	0.793|.	T|T	0.51865|0.51865	-0.8651|-0.8651	9|5	0.56958|.	D|.	0.05|.	.|.	12.1739|12.1739	0.54173|0.54173	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1413|.	A1KZ92|.	PXDNL_HUMAN|.	Y|N	1413|486	ENSP00000348645:D1413Y|.	ENSP00000348645:D1413Y|.	D|K	-|-	1|3	0|2	PXDNL|PXDNL	52395920|52395920	0.766000|0.766000	0.28496|0.28496	0.233000|0.233000	0.24025|0.24025	0.014000|0.014000	0.08584|0.08584	3.302000|3.302000	0.51849|0.51849	1.911000|1.911000	0.55334|0.55334	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.507	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PXDNL	137902	broad.mit.edu	37	8	52320912	52320912	+	Missense_Mutation	SNP	A	A	G	rs370901923		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:52320912A>G	ENST00000356297.4	-	17	3372	c.3272T>C	c.(3271-3273)aTa>aCa	p.I1091T	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1091T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1091					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.I1091T(1)|p.I290T(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)				TTCCTTGATTATTCTGGACGG	0.517																																					p.I1091T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3272C	8						.						59.0	61.0	60.0					8																	52320912		1872	4107	5979	52483465	SO:0001583	missense	137902	exon17				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.3272T>C	8.37:g.52320912A>G	ENSP00000348645:p.Ile1091Thr		52483465	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.78|10.78	1.446942|1.446942	0.25987|0.25987	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.74002|.	-0.8;-0.8|.	3.82|3.82	2.64|2.64	0.31445|0.31445	.|.	0.103768|.	0.41001|.	D|.	0.000971|.	T|.	0.68559|.	0.3014|.	M|M	0.85945|0.85945	2.785|2.785	0.36215|0.36215	D|D	0.85158|0.85158	D|.	0.55172|.	0.97|.	D|.	0.63877|.	0.919|.	T|.	0.71606|.	-0.4542|.	10|.	0.87932|.	D|.	0|.	.|.	7.1373|7.1373	0.25535|0.25535	0.885:0.0:0.115:0.0|0.885:0.0:0.115:0.0	.|.	1091|.	A1KZ92|.	PXDNL_HUMAN|.	T|Q	1091|210	ENSP00000348645:I1091T;ENSP00000444865:I1091T|.	ENSP00000348645:I1091T|.	I|X	-|-	2|1	0|0	PXDNL|PXDNL	52483465|52483465	1.000000|1.000000	0.71417|0.71417	0.008000|0.008000	0.14137|0.14137	0.001000|0.001000	0.01503|0.01503	7.897000|7.897000	0.87356|0.87356	0.356000|0.356000	0.24157|0.24157	-0.250000|-0.250000	0.11733|0.11733	ATA|TAA		0.517	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PXDNL	137902	broad.mit.edu	37	8	52336225	52336225	+	Missense_Mutation	SNP	C	C	T	rs180899557		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:52336225C>T	ENST00000356297.4	-	14	1805	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D569N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	569	Ig-like C2-type 4.				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.D569N(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)				AACCCTGCGTCGTAGATAGTC	0.478													C|||	0	0.0	0.0	0.0	5008	,	,		15174	0.0		0.0	False		,,,				2504	0.0				p.D569N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705A	8						.	C	ASN/ASP	4,4328		0,4,2162	115.0	125.0	122.0		1705	3.5	0.0	8		122	1,8537		0,1,4268	yes	missense	PXDNL	NM_144651.4	23	0,5,6430	TT,TC,CC		0.0117,0.0923,0.0389	possibly-damaging	569/1464	52336225	5,12865	2166	4269	6435	52498778	SO:0001583	missense	137902	exon14				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.1705G>A	8.37:g.52336225C>T	ENSP00000348645:p.Asp569Asn		52498778	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.806	0.149785	0.09185	9.23E-4	1.17E-4	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.75154	-0.91;-0.91	4.43	3.52	0.40303	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42877	0.1222	N	0.01473	-0.845	0.21527	N	0.999657	B	0.33739	0.422	B	0.31495	0.131	T	0.30707	-0.9969	9	0.09590	T	0.72	.	9.7459	0.40446	0.2074:0.7926:0.0:0.0	.	569	A1KZ92	PXDNL_HUMAN	N	569	ENSP00000348645:D569N;ENSP00000444865:D569N	ENSP00000348645:D569N	D	-	1	0	PXDNL	52498778	0.979000	0.34478	0.005000	0.12908	0.002000	0.02628	3.200000	0.51051	0.907000	0.36646	0.650000	0.86243	GAC		0.478	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
PCMTD1	115294	broad.mit.edu	37	8	52744111	52744111	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:52744111C>T	ENST00000360540.5	-	6	1005	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R200Q|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R124Q|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	200						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R200Q(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTGTCCAGTTCGCATAATCTG	0.358																																					p.R200Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	8						.						120.0	105.0	110.0					8																	52744111		2203	4300	6503	52906664	SO:0001583	missense	115294	exon5				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.599G>A	8.37:g.52744111C>T	ENSP00000353739:p.Arg200Gln		52906664	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.953493|4.953493	0.92660|0.92660	.|.	.|.	ENSG00000168300|ENSG00000168300	ENST00000519554|ENST00000360540;ENST00000544451;ENST00000522514	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	5.45|5.45	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.90252|0.90252	3.1|3.1	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P;D	.|0.89917	.|0.998;0.681;1.0	.|D;B;D	.|0.87578	.|0.988;0.071;0.998	T|T	0.79327|0.79327	-0.1849|-0.1849	5|10	.|0.87932	.|D	.|0	-15.0532|-15.0532	13.3667|13.3667	0.60689|0.60689	0.0:0.9211:0.0:0.0789|0.0:0.9211:0.0:0.0789	.|.	.|70;124;200	.|B4E2B4;F5H1M8;Q96MG8	.|.;.;PCMD1_HUMAN	K|Q	92|200;124;200	.|ENSP00000353739:R200Q;ENSP00000444026:R124Q;ENSP00000428099:R200Q	.|ENSP00000353739:R200Q	E|R	-|-	1|2	0|0	PCMTD1|PCMTD1	52906664|52906664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.626000|7.626000	0.83164|0.83164	1.231000|1.231000	0.43661|0.43661	0.557000|0.557000	0.71058|0.71058	GAA|CGA		0.358	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
PCMTD1	115294	broad.mit.edu	37	8	52746175	52746175	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:52746175C>T	ENST00000360540.5	-	5	891	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R162Q|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R86Q|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R162Q(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACAATAAATTCGATCATACTG	0.363																																					p.R162Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G485A	8						.						144.0	129.0	134.0					8																	52746175		2203	4300	6503	52908728	SO:0001583	missense	115294	exon4				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.485G>A	8.37:g.52746175C>T	ENSP00000353739:p.Arg162Gln		52908728	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836588|4.836588	0.91117|0.91117	.|.	.|.	ENSG00000168300|ENSG00000168300	ENST00000519554|ENST00000360540;ENST00000544451;ENST00000522514	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|0.124846	.|0.56097	.|D	.|0.000034	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.89534|0.89534	3.04|3.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;D	.|0.89917	.|0.998;0.998;0.545;1.0	.|D;D;B;D	.|0.97110	.|0.992;0.992;0.039;1.0	T|T	0.74200|0.74200	-0.3742|-0.3742	5|10	.|0.59425	.|D	.|0.04	-42.8563|-42.8563	12.0488|12.0488	0.53495|0.53495	0.0:0.8575:0.0:0.1425|0.0:0.8575:0.0:0.1425	.|.	.|79;32;86;162	.|Q658R8;B4E2B4;F5H1M8;Q96MG8	.|.;.;.;PCMD1_HUMAN	K|Q	54|162;86;162	.|ENSP00000353739:R162Q;ENSP00000444026:R86Q;ENSP00000428099:R162Q	.|ENSP00000353739:R162Q	E|R	-|-	1|2	0|0	PCMTD1|PCMTD1	52908728|52908728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	6.060000|6.060000	0.71141|0.71141	1.195000|1.195000	0.43115|0.43115	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
ST18	9705	broad.mit.edu	37	8	53028876	53028876	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:53028876C>T	ENST00000276480.7	-	25	3645	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	988					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A988T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAAATGAGAGCTTGGCTTAGA	0.448																																					p.A988T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2962A	8						.						223.0	165.0	185.0					8																	53028876		2203	4300	6503	53191429	SO:0001583	missense	9705	exon25			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2962G>A	8.37:g.53028876C>T	ENSP00000276480:p.Ala988Thr		53191429	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932401	0.97116	.	.	ENSG00000147488	ENST00000276480	T	0.48836	0.8	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68375	0.2994	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65602	-0.6128	10	0.46703	T	0.11	-15.4891	20.0735	0.97734	0.0:1.0:0.0:0.0	.	988	O60284	ST18_HUMAN	T	988	ENSP00000276480:A988T	ENSP00000276480:A988T	A	-	1	0	ST18	53191429	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	6.009000	0.70745	2.745000	0.94114	0.655000	0.94253	GCT		0.448	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST18	9705	broad.mit.edu	37	8	53038698	53038698	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:53038698A>C	ENST00000276480.7	-	23	3352	c.2669T>G	c.(2668-2670)tTa>tGa	p.L890*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	890					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L890*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACATCCAGATAAGCTGTGAAA	0.348																																					p.L890X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2669G	8						.						142.0	122.0	129.0					8																	53038698		2203	4300	6503	53201251	SO:0001587	stop_gained	9705	exon23			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2669T>G	8.37:g.53038698A>C	ENSP00000276480:p.Leu890*		53201251	NM_014682	Q17RY1	Nonsense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	46	12.380587	0.99662	.	.	ENSG00000147488	ENST00000276480	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6512	16.1063	0.81225	1.0:0.0:0.0:0.0	.	.	.	.	X	890	.	ENSP00000276480:L890X	L	-	2	0	ST18	53201251	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	8.750000	0.91623	2.205000	0.71048	0.528000	0.53228	TTA		0.348	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
RB1CC1	9821	broad.mit.edu	37	8	53569748	53569748	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:53569748G>T	ENST00000025008.5	-	15	3164	c.2641C>A	c.(2641-2643)Cta>Ata	p.L881I	RB1CC1_ENST00000539297.1_Missense_Mutation_p.L881I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L881I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	881					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.L881I(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCCTTTATTAGTCCGTCAAGT	0.274																																					p.L881I	GBM(180;1701 2102 13475 42023 52570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2641A	8						.						37.0	42.0	40.0					8																	53569748		2179	4257	6436	53732301	SO:0001583	missense	9821	exon15			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2641C>A	8.37:g.53569748G>T	ENSP00000025008:p.Leu881Ile		53732301	NM_001083617	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678005	0.47886	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04406	3.63;3.63;3.63	5.38	3.2	0.36748	.	0.077566	0.53938	D	0.000053	T	0.06735	0.0172	L	0.34521	1.04	0.40030	D	0.975527	D;D	0.59767	0.986;0.976	P;P	0.55713	0.782;0.609	T	0.45381	-0.9265	10	0.31617	T	0.26	-8.6832	4.3385	0.11097	0.4553:0.0:0.5447:0.0	.	881;881	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	I	881	ENSP00000025008:L881I;ENSP00000396067:L881I;ENSP00000445960:L881I	ENSP00000025008:L881I	L	-	1	2	RB1CC1	53732301	0.986000	0.35501	0.275000	0.24674	0.915000	0.54546	2.254000	0.43214	1.398000	0.46701	0.563000	0.77884	CTA		0.274	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
RB1CC1	9821	broad.mit.edu	37	8	53596476	53596476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:53596476G>A	ENST00000025008.5	-	4	692	c.169C>T	c.(169-171)Cga>Tga	p.R57*	RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.R57*|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.R57*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	57					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R57*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CACACTCTTCGATCTGCAGCC	0.448																																					p.R57X	GBM(180;1701 2102 13475 42023 52570)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C169T	8						.						130.0	103.0	113.0					8																	53596476		2203	4300	6503	53759029	SO:0001587	stop_gained	9821	exon4			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.169C>T	8.37:g.53596476G>A	ENSP00000025008:p.Arg57*		53759029	NM_001083617	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	39	7.436678	0.98282	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710;ENST00000517963	.	.	.	4.99	3.14	0.36123	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8293	13.2393	0.59987	0.0:0.0:0.4052:0.5948	.	.	.	.	X	57;57;57;5;53	.	ENSP00000025008:R57X	R	-	1	2	RB1CC1	53759029	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	1.930000	0.40124	0.572000	0.29383	-0.319000	0.08680	CGA		0.448	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
OPRK1	4986	broad.mit.edu	37	8	54142010	54142010	+	Silent	SNP	G	G	A	rs77333617		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:54142010G>A	ENST00000265572.3	-	4	1287	c.990C>T	c.(988-990)taC>taT	p.Y330Y	OPRK1_ENST00000520287.1_Silent_p.Y330Y|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.Y241Y	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	330					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.Y330Y(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAAGAAAGGCGTAGAGAATGG	0.517																																					p.Y330Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990T	8						.	G		0,4406		0,0,2203	80.0	73.0	75.0		990	-4.5	1.0	8	dbSNP_131	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OPRK1	NM_000912.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		330/381	54142010	1,13005	2203	4300	6503	54304563	SO:0001819	synonymous_variant	4986	exon4				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.990C>T	8.37:g.54142010G>A			54304563	NM_000912	E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	CCDS6152.1																																																																																				0.517	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
RGS20	8601	broad.mit.edu	37	8	54866734	54866734	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:54866734G>A	ENST00000297313.3	+	5	934	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.R15Q|RGS20_ENST00000276500.4_Missense_Mutation_p.R134Q|RGS20_ENST00000344277.6_Missense_Mutation_p.R166Q	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	281	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R281Q(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAATTCCTCCGAACAGAATTC	0.433																																					p.R281Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842A	8						.						75.0	74.0	74.0					8																	54866734		2203	4300	6503	55029287	SO:0001583	missense	8601	exon5			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.842G>A	8.37:g.54866734G>A	ENSP00000297313:p.Arg281Gln		55029287	NM_170587	Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876302	0.72180	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.78	3.91	0.45181	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64404	1.975	0.58432	D	0.999999	P;D;D;D;D	0.64830	0.693;0.987;0.994;0.994;0.99	B;P;D;D;P	0.63597	0.289;0.887;0.916;0.916;0.79	T	0.52495	-0.8568	10	0.72032	D	0.01	.	13.3209	0.60432	0.077:0.0:0.923:0.0	.	45;73;134;166;281	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	Q	281;166;15;134	ENSP00000297313:R281Q;ENSP00000344630:R166Q;ENSP00000430627:R15Q;ENSP00000276500:R134Q	ENSP00000276500:R134Q	R	+	2	0	RGS20	55029287	1.000000	0.71417	0.389000	0.26208	0.384000	0.30261	9.813000	0.99286	1.133000	0.42147	0.563000	0.77884	CGA		0.433	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1		
TCEA1	6917	broad.mit.edu	37	8	54900682	54900682	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:54900682C>T	ENST00000521604.2	-	5	861	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	TCEA1_ENST00000396401.3_Missense_Mutation_p.R132Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	153	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R153Q(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ACCCCCTGTTCGAAGAGCTGC	0.478			T	PLAG1	salivary adenoma																																p.R132Q			Dom	yes		8	8q11.2	6917	"""transcription elongation factor A (SII), 1"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	8						.						75.0	76.0	76.0					8																	54900682		2090	4217	6307	55063235	SO:0001583	missense	6917	exon4			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.458G>A	8.37:g.54900682C>T	ENSP00000428426:p.Arg153Gln		55063235	NM_201437	A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537366	0.27475	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.41400	1.0;1.0	5.49	4.6	0.57074	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.192988	0.44902	D	0.000419	T	0.14313	0.0346	N	0.01464	-0.85	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.004	T	0.21690	-1.0238	10	0.09084	T	0.74	-8.5502	8.7074	0.34363	0.0:0.7861:0.0:0.2139	.	132;153	P23193-2;P23193	.;TCEA1_HUMAN	Q	132;153	ENSP00000395483:R132Q;ENSP00000428426:R153Q	ENSP00000395483:R132Q	R	-	2	0	TCEA1	55063235	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.836000	0.48183	2.749000	0.94314	0.491000	0.48974	CGA		0.478	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756	
TCEA1	6917	broad.mit.edu	37	8	54906286	54906286	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:54906286C>T	ENST00000521604.2	-	4	665	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	TCEA1_ENST00000520534.1_Missense_Mutation_p.E88K|TCEA1_ENST00000396401.3_Missense_Mutation_p.E67K|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	88					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E88K(2)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTCTTCTTTTCGTCAAGGTCT	0.353			T	PLAG1	salivary adenoma																																p.E67K			Dom	yes		8	8q11.2	6917	"""transcription elongation factor A (SII), 1"""		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G199A	8						.						199.0	184.0	189.0					8																	54906286		1823	4086	5909	55068839	SO:0001583	missense	6917	exon3			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.262G>A	8.37:g.54906286C>T	ENSP00000428426:p.Glu88Lys		55068839	NM_201437	A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077841	0.55753	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000520534	.	.	.	4.89	4.89	0.63831	Transcription factor IIS, N-terminal (2);	0.294524	0.36815	N	0.002382	T	0.50990	0.1648	L	0.34521	1.04	0.80722	D	1	B;B	0.21381	0.055;0.003	B;B	0.19946	0.027;0.002	T	0.47686	-0.9098	9	0.10111	T	0.7	-27.0655	18.4354	0.90643	0.0:1.0:0.0:0.0	.	67;88	P23193-2;P23193	.;TCEA1_HUMAN	K	67;88;88	.	ENSP00000395483:E67K	E	-	1	0	TCEA1	55068839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.016000	0.76393	2.407000	0.81776	0.591000	0.81541	GAA		0.353	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756	
RP1	6101	broad.mit.edu	37	8	55534069	55534069	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55534069G>T	ENST00000220676.1	+	2	691	c.543G>T	c.(541-543)gaG>gaT	p.E181D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	181	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E181D(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGCTTCGAGGCATTTCTAC	0.632																																					p.E181D	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	8						.						117.0	119.0	119.0					8																	55534069		2203	4300	6503	55696622	SO:0001583	missense	6101	exon2			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.543G>T	8.37:g.55534069G>T	ENSP00000220676:p.Glu181Asp		55696622	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982217	0.53827	.	.	ENSG00000104237	ENST00000220676	D	0.89810	-2.57	5.14	3.3	0.37823	Doublecortin domain (5);	0.113744	0.39020	N	0.001492	D	0.82770	0.5109	L	0.47716	1.5	0.35719	D	0.816995	P	0.42908	0.793	B	0.40602	0.334	T	0.82196	-0.0577	10	0.32370	T	0.25	-8.972	6.7467	0.23466	0.1596:0.1437:0.6967:0.0	.	181	P56715	RP1_HUMAN	D	181	ENSP00000220676:E181D	ENSP00000220676:E181D	E	+	3	2	RP1	55696622	0.901000	0.30685	0.925000	0.36789	0.570000	0.35934	0.124000	0.15728	1.145000	0.42336	0.650000	0.86243	GAG		0.632	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55537349	55537349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55537349G>T	ENST00000220676.1	+	4	1055	c.907G>T	c.(907-909)Gaa>Taa	p.E303*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	303					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E303*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTGGCCTTAGAAAAGAATGA	0.318																																					p.E303X	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G907T	8						.						61.0	66.0	64.0					8																	55537349		2202	4298	6500	55699902	SO:0001587	stop_gained	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.907G>T	8.37:g.55537349G>T	ENSP00000220676:p.Glu303*		55699902	NM_006269		Nonsense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530276	0.96446	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.1332	0.53955	0.0782:0.0:0.9218:0.0	.	.	.	.	X	303	.	ENSP00000220676:E303X	E	+	1	0	RP1	55699902	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.216000	0.51176	2.432000	0.82394	0.655000	0.94253	GAA		0.318	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55539536	55539536	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55539536A>G	ENST00000220676.1	+	4	3242	c.3094A>G	c.(3094-3096)Aat>Gat	p.N1032D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.N1032D(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCAGCTATTAATGATCATAA	0.383																																					p.N1032D	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3094G	8						.						160.0	175.0	170.0					8																	55539536		2203	4300	6503	55702089	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3094A>G	8.37:g.55539536A>G	ENSP00000220676:p.Asn1032Asp		55702089	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	0.211	-1.036591	0.02013	.	.	ENSG00000104237	ENST00000220676	T	0.21031	2.03	5.65	-1.55	0.08558	.	0.779574	0.11892	N	0.519542	T	0.04861	0.0131	N	0.01482	-0.84	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38329	-0.9666	10	0.18710	T	0.47	.	0.4381	0.00482	0.3682:0.2019:0.1247:0.3053	.	1032	P56715	RP1_HUMAN	D	1032	ENSP00000220676:N1032D	ENSP00000220676:N1032D	N	+	1	0	RP1	55702089	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	0.086000	0.14935	0.191000	0.20236	0.533000	0.62120	AAT		0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55540919	55540919	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55540919T>A	ENST00000220676.1	+	4	4625	c.4477T>A	c.(4477-4479)Tta>Ata	p.L1493I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1493					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L1493I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTGAAGAATTAATCCAAGA	0.313																																					p.L1493I	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4477A	8						.						44.0	49.0	47.0					8																	55540919		2198	4297	6495	55703472	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4477T>A	8.37:g.55540919T>A	ENSP00000220676:p.Leu1493Ile		55703472	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	3.590	-0.083787	0.07141	.	.	ENSG00000104237	ENST00000220676	T	0.66460	-0.21	5.48	-3.75	0.04372	.	1.715750	0.03490	N	0.216436	T	0.52468	0.1736	L	0.36672	1.1	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.40869	-0.9540	10	0.41790	T	0.15	.	5.2068	0.15295	0.2255:0.3327:0.0:0.4419	.	1493	P56715	RP1_HUMAN	I	1493	ENSP00000220676:L1493I	ENSP00000220676:L1493I	L	+	1	2	RP1	55703472	0.009000	0.17119	0.000000	0.03702	0.088000	0.18126	0.043000	0.13971	-0.201000	0.10284	0.533000	0.62120	TTA		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55541631	55541631	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:55541631G>T	ENST00000220676.1	+	4	5337	c.5189G>T	c.(5188-5190)aGa>aTa	p.R1730I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1730					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.R1730I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGATAGCAGAATCCTCACA	0.403																																					p.R1730I	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5189T	8						.						123.0	117.0	119.0					8																	55541631		2203	4300	6503	55704184	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5189G>T	8.37:g.55541631G>T	ENSP00000220676:p.Arg1730Ile		55704184	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	8.534	0.871773	0.17322	.	.	ENSG00000104237	ENST00000220676	T	0.25250	1.81	5.93	4.11	0.48088	.	0.112539	0.39544	N	0.001332	T	0.23766	0.0575	L	0.59436	1.845	0.26259	N	0.978606	B	0.34372	0.451	B	0.31869	0.137	T	0.25745	-1.0123	10	0.87932	D	0	-18.5254	8.2939	0.31973	0.0637:0.1145:0.7031:0.1187	.	1730	P56715	RP1_HUMAN	I	1730	ENSP00000220676:R1730I	ENSP00000220676:R1730I	R	+	2	0	RP1	55704184	0.651000	0.27340	0.023000	0.16930	0.047000	0.14425	0.802000	0.27069	1.495000	0.48549	0.655000	0.94253	AGA		0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
TGS1	96764	broad.mit.edu	37	8	56686217	56686217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:56686217C>A	ENST00000260129.5	+	1	517	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	TMEM68_ENST00000519784.1_5'Flank|TMEM68_ENST00000334667.2_5'Flank|TMEM68_ENST00000523073.1_5'Flank|TMEM68_ENST00000434581.2_5'Flank|TMEM68_ENST00000521229.1_5'Flank|TMEM68_ENST00000522576.1_5'Flank	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	14					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.L14I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GGAAATGTTTCTCTTCATTGA	0.547																																					p.L14I	Esophageal Squamous(34;275 823 4842 34837 48447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40A	8						.						134.0	132.0	132.0					8																	56686217		2203	4300	6503	56848771	SO:0001583	missense	96764	exon1			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.40C>A	8.37:g.56686217C>A	ENSP00000260129:p.Leu14Ile		56848771	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821286	0.50633	.	.	ENSG00000137574	ENST00000260129	T	0.14766	2.48	4.97	4.1	0.47936	.	0.237231	0.36303	N	0.002661	T	0.18425	0.0442	M	0.73962	2.25	0.29313	N	0.867902	P	0.48294	0.908	B	0.41860	0.368	T	0.15122	-1.0448	10	0.59425	D	0.04	-4.6848	10.5623	0.45152	0.0:0.9104:0.0:0.0896	.	14	Q96RS0	TGS1_HUMAN	I	14	ENSP00000260129:L14I	ENSP00000260129:L14I	L	+	1	0	TGS1	56848771	0.932000	0.31603	0.856000	0.33681	0.597000	0.36814	1.910000	0.39927	1.455000	0.47813	0.655000	0.94253	CTC		0.547	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
TGS1	96764	broad.mit.edu	37	8	56699470	56699470	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:56699470C>T	ENST00000260129.5	+	4	1490	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	338					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.S338F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CAATTAGATTCCTGTACAAGT	0.403																																					p.S338F	Esophageal Squamous(34;275 823 4842 34837 48447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013T	8						.						76.0	71.0	73.0					8																	56699470		2203	4300	6503	56862024	SO:0001583	missense	96764	exon4			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1013C>T	8.37:g.56699470C>T	ENSP00000260129:p.Ser338Phe		56862024	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	7.285	0.609864	0.14066	.	.	ENSG00000137574	ENST00000260129	T	0.16897	2.31	5.57	0.356	0.16074	.	0.803369	0.11641	N	0.543762	T	0.17408	0.0418	M	0.63428	1.95	0.09310	N	1	P;P	0.45902	0.868;0.868	B;B	0.39805	0.24;0.31	T	0.12091	-1.0561	10	0.62326	D	0.03	-0.0067	8.4292	0.32746	0.0:0.3326:0.5228:0.1446	.	338;338	B2RBJ7;Q96RS0	.;TGS1_HUMAN	F	338	ENSP00000260129:S338F	ENSP00000260129:S338F	S	+	2	0	TGS1	56862024	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.081000	0.14823	-0.002000	0.14469	0.655000	0.94253	TCC		0.403	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
TGS1	96764	broad.mit.edu	37	8	56725651	56725651	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:56725651C>A	ENST00000260129.5	+	12	2890	c.2413C>A	c.(2413-2415)Ctt>Att	p.L805I		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	805	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.L805I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTTATTTTCTTCCAAGAAA	0.323																																					p.L805I	Esophageal Squamous(34;275 823 4842 34837 48447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2413A	8						.						54.0	54.0	54.0					8																	56725651		2201	4298	6499	56888205	SO:0001583	missense	96764	exon12			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2413C>A	8.37:g.56725651C>A	ENSP00000260129:p.Leu805Ile		56888205	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020952	0.93462	.	.	ENSG00000137574	ENST00000260129	T	0.69175	-0.38	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.91612	3.225	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.88545	0.3112	10	0.66056	D	0.02	-18.1781	19.6223	0.95663	0.0:1.0:0.0:0.0	.	805	Q96RS0	TGS1_HUMAN	I	805	ENSP00000260129:L805I	ENSP00000260129:L805I	L	+	1	0	TGS1	56888205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.402000	0.52608	2.635000	0.89317	0.650000	0.86243	CTT		0.323	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
PLAG1	5324	broad.mit.edu	37	8	57080001	57080001	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:57080001G>T	ENST00000316981.3	-	5	783	c.304C>A	c.(304-306)Cac>Aac	p.H102N	PLAG1_ENST00000423799.2_Missense_Mutation_p.H20N|PLAG1_ENST00000429357.2_Missense_Mutation_p.H102N	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	102	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H102N(1)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTTTCCGGTGAAACATTTTC	0.383			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																p.H20N			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58A	8						.						90.0	75.0	80.0					8																	57080001		2203	4300	6503	57242555	SO:0001583	missense	5324	exon3			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.304C>A	8.37:g.57080001G>T	ENSP00000325546:p.His102Asn		57242555	NM_001114635	B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663703	0.47572	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.75260	2.3;-0.92;2.3	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.043426	0.85682	N	0.000000	T	0.73361	0.3577	N	0.05158	-0.105	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.72083	-0.4397	10	0.18276	T	0.48	-18.9289	20.0812	0.97776	0.0:0.0:1.0:0.0	.	102	Q6DJT9	PLAG1_HUMAN	N	102;20;102	ENSP00000325546:H102N;ENSP00000404067:H20N;ENSP00000416537:H102N	ENSP00000325546:H102N	H	-	1	0	PLAG1	57242555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.744000	0.94065	0.585000	0.79938	CAC		0.383	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655	
SDR16C5	195814	broad.mit.edu	37	8	57219241	57219241	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:57219241G>A	ENST00000303749.3	-	5	1341	c.704C>T	c.(703-705)aCt>aTt	p.T235I	SDR16C5_ENST00000522671.1_Missense_Mutation_p.T235I|SDR16C5_ENST00000396721.2_Missense_Mutation_p.T191I	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	235					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.T235I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTACCCTGTAGTACAACCTTC	0.284																																					p.T235I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C704T	8						.						69.0	69.0	69.0					8																	57219241		2203	4300	6503	57381795	SO:0001583	missense	195814	exon5				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.704C>T	8.37:g.57219241G>A	ENSP00000307607:p.Thr235Ile		57381795	NM_138969	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367936	0.24771	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671	D;D;T	0.89270	-2.49;-2.49;0.75	5.55	4.65	0.58169	NAD(P)-binding domain (1);	0.641961	0.16942	N	0.193226	D	0.85741	0.5767	L	0.52266	1.64	0.09310	N	1	B;B;B	0.19935	0.024;0.04;0.007	B;B;B	0.24701	0.034;0.055;0.015	T	0.77078	-0.2721	10	0.49607	T	0.09	.	10.2693	0.43473	0.0:0.2351:0.5682:0.1967	.	191;235;235	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	I	191;235;235	ENSP00000379947:T191I;ENSP00000307607:T235I;ENSP00000431010:T235I	ENSP00000307607:T235I	T	-	2	0	SDR16C5	57381795	0.002000	0.14202	0.379000	0.26080	0.856000	0.48823	1.270000	0.33086	1.291000	0.44653	0.655000	0.94253	ACT		0.284	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1	NM_138969	
FAM110B	90362	broad.mit.edu	37	8	59059479	59059479	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59059479C>T	ENST00000361488.3	+	5	1570	c.690C>T	c.(688-690)atC>atT	p.I230I	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	230						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I230I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				AGCCCAAAATCGCAGCCATCG	0.627																																					p.I230I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	8						.						78.0	84.0	82.0					8																	59059479		2203	4300	6503	59222033	SO:0001819	synonymous_variant	90362	exon5			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.690C>T	8.37:g.59059479C>T			59222033	NM_147189	Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	CCDS6170.1																																																																																				0.627	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
UBXN2B	137886	broad.mit.edu	37	8	59358570	59358570	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59358570T>A	ENST00000399598.2	+	7	898	c.776T>A	c.(775-777)aTt>aAt	p.I259N		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	259	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.I259N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAACAAAAATTCAAATCAGG	0.373																																					p.I259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T776A	8						.						133.0	118.0	123.0					8																	59358570		1854	4088	5942	59521124	SO:0001583	missense	137886	exon7			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.776T>A	8.37:g.59358570T>A	ENSP00000382507:p.Ile259Asn		59521124	NM_001077619	B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541145	0.85917	.	.	ENSG00000215114	ENST00000399598	T	0.56941	0.43	5.3	5.3	0.74995	UBX (3);	0.151143	0.29822	U	0.011119	T	0.79323	0.4426	H	0.95780	3.72	0.54753	D	0.999985	D	0.53885	0.963	D	0.64595	0.927	D	0.85473	0.1174	10	0.87932	D	0	-4.5069	14.163	0.65459	0.0:0.0:0.0:1.0	.	259	Q14CS0	UBX2B_HUMAN	N	259	ENSP00000382507:I259N	ENSP00000382507:I259N	I	+	2	0	UBXN2B	59521124	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.157000	0.67596	0.529000	0.55759	ATT		0.373	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619	
CYP7A1	1581	broad.mit.edu	37	8	59409435	59409435	+	Silent	SNP	G	G	A	rs370087640		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59409435G>A	ENST00000301645.3	-	3	773	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	212					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F212F(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGACTTTGTCGAATTGCTTGA	0.478									Neonatal Giant Cell Hepatitis																												p.F212F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C636T	8						.	G		1,4405	2.1+/-5.4	0,1,2202	141.0	138.0	139.0		636	0.8	0.9	8		139	0,8600		0,0,4300	no	coding-synonymous	CYP7A1	NM_000780.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		212/505	59409435	1,13005	2203	4300	6503	59571989	SO:0001819	synonymous_variant	1581	exon3	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.636C>T	8.37:g.59409435G>A			59571989	NM_000780	P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																				0.478	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
NSMAF	8439	broad.mit.edu	37	8	59514652	59514652	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59514652C>T	ENST00000038176.3	-	14	1302	c.1090G>A	c.(1090-1092)Ggg>Agg	p.G364R	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.G395R	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	364	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.G364R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTAGGGCCCCTACTGGCTTA	0.413																																					p.G364R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090A	8						.						114.0	116.0	115.0					8																	59514652		2203	4300	6503	59677206	SO:0001583	missense	8439	exon14			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1090G>A	8.37:g.59514652C>T	ENSP00000038176:p.Gly364Arg		59677206	NM_003580	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821753	0.90873	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.82344	-1.6;-1.6	5.96	5.09	0.68999	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.97465	4.01	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96161	0.9115	9	.	.	.	.	15.1623	0.72793	0.0:0.9325:0.0:0.0675	.	395;364;364	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	R	364;395	ENSP00000038176:G364R;ENSP00000411012:G395R	.	G	-	1	0	NSMAF	59677206	1.000000	0.71417	0.992000	0.48379	0.835000	0.47333	7.513000	0.81739	1.523000	0.49018	0.655000	0.94253	GGG		0.413	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
NSMAF	8439	broad.mit.edu	37	8	59547919	59547919	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59547919C>A	ENST00000038176.3	-	4	453	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	NSMAF_ENST00000427130.2_Missense_Mutation_p.D112Y	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	81					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.D81Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTATACAGTCTCTCAAAGGA	0.294																																					p.D81Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241T	8						.						73.0	76.0	75.0					8																	59547919		2203	4294	6497	59710473	SO:0001583	missense	8439	exon4			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.241G>T	8.37:g.59547919C>A	ENSP00000038176:p.Asp81Tyr		59710473	NM_003580	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590518	0.66219	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.55760	0.51;0.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.68593	2.085	0.52099	D	0.99994	D;P;B	0.89917	1.0;0.777;0.397	D;B;B	0.91635	0.999;0.297;0.057	T	0.70135	-0.4955	9	.	.	.	.	17.8311	0.88683	0.0:1.0:0.0:0.0	.	112;81;81	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	Y	81;112	ENSP00000038176:D81Y;ENSP00000411012:D112Y	.	D	-	1	0	NSMAF	59710473	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.939000	0.63526	2.640000	0.89533	0.591000	0.81541	GAC		0.294	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
TOX	9760	broad.mit.edu	37	8	59750740	59750740	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:59750740G>T	ENST00000361421.1	-	5	1044	c.824C>A	c.(823-825)aCt>aAt	p.T275N		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	275						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T275N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGCGGCCTGAGTATCACGAAA	0.458																																					p.T275N	Pancreas(161;610 1969 17913 21374 22725)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824A	8						.						119.0	116.0	117.0					8																	59750740		2203	4300	6503	59913294	SO:0001583	missense	9760	exon5				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.824C>A	8.37:g.59750740G>T	ENSP00000354842:p.Thr275Asn		59913294	NM_014729	Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959368	0.92726	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	D	0.97870	-4.58	5.59	5.59	0.84812	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97340	0.9130	N	0.20304	0.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97063	0.9772	9	.	.	.	.	19.5961	0.95538	0.0:0.0:1.0:0.0	.	275	O94900	TOX_HUMAN	N	275;33	ENSP00000354842:T275N	.	T	-	2	0	TOX	59913294	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.621000	0.88768	0.591000	0.81541	ACT		0.458	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	
CHD7	55636	broad.mit.edu	37	8	61693684	61693684	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:61693684G>T	ENST00000423902.2	+	3	2270	c.1791G>T	c.(1789-1791)aaG>aaT	p.K597N	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.K597N	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	597	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K597N(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACAACAAAAGAAGAAGAAAA	0.423																																					p.K597N												.	.	3	Substitution - Missense(2)|Insertion - In frame(1)	large_intestine(2)|lung(1)	c.G1791T	8						.						43.0	44.0	44.0					8																	61693684		1883	4108	5991	61856238	SO:0001583	missense	55636	exon3			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1791G>T	8.37:g.61693684G>T	ENSP00000392028:p.Lys597Asn		61856238	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958599	0.53400	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.83837	-1.77;-1.45	5.23	2.42	0.29668	.	0.000000	0.48286	D	0.000189	T	0.80839	0.4700	L	0.29908	0.895	0.41711	D	0.989453	D	0.62365	0.991	P	0.55011	0.766	T	0.79579	-0.1745	10	0.59425	D	0.04	-25.7198	10.8251	0.46627	0.2097:0.0:0.7903:0.0	.	597	Q9P2D1	CHD7_HUMAN	N	597	ENSP00000392028:K597N;ENSP00000436027:K597N	ENSP00000307304:K597N	K	+	3	2	CHD7	61856238	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.818000	0.55678	0.286000	0.22352	-0.145000	0.13849	AAG		0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
CHD7	55636	broad.mit.edu	37	8	61693775	61693775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:61693775G>T	ENST00000423902.2	+	3	2361	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Nonsense_Mutation_p.E628*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	628	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E628*(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGATAACCAAGAACTAAATAG	0.398																																					p.E628X												.	.	3	Substitution - Nonsense(2)|Insertion - In frame(1)	large_intestine(2)|lung(1)	c.G1882T	8						.						44.0	43.0	44.0					8																	61693775		1823	4071	5894	61856329	SO:0001587	stop_gained	55636	exon3			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1882G>T	8.37:g.61693775G>T	ENSP00000392028:p.Glu628*		61856329	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463363	0.98822	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	.	.	.	5.23	4.35	0.52113	.	0.142434	0.32703	N	0.005742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-21.176	10.9161	0.47137	0.1651:0.0:0.8349:0.0	.	.	.	.	X	628	.	ENSP00000307304:E628X	E	+	1	0	CHD7	61856329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.199000	0.72112	1.336000	0.45506	0.650000	0.86243	GAA		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
CHD7	55636	broad.mit.edu	37	8	61735155	61735155	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:61735155C>T	ENST00000423902.2	+	12	3530	c.3051C>T	c.(3049-3051)ggC>ggT	p.G1017G	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.G1017G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1017	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1017G(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAATCCATGGCCCTTTTTTAG	0.423																																					p.G1017G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3051T	8						.						170.0	165.0	167.0					8																	61735155		1844	4086	5930	61897709	SO:0001819	synonymous_variant	55636	exon12			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3051C>T	8.37:g.61735155C>T			61897709	NM_017780	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	CCDS47865.1																																																																																				0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
ASPH	444	broad.mit.edu	37	8	62496558	62496558	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:62496558T>G	ENST00000379454.4	-	15	1194	c.1007A>C	c.(1006-1008)aAa>aCa	p.K336T	ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000541428.1_Missense_Mutation_p.K307T	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	336					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.K336T(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTTATCAAATTTATTTAAAAG	0.254																																					p.K336T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1007C	8						.						49.0	51.0	50.0					8																	62496558		2202	4295	6497	62659112	SO:0001583	missense	444	exon15			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1007A>C	8.37:g.62496558T>G	ENSP00000368767:p.Lys336Thr		62659112	NM_004318	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456469	0.43634	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522349	T;T;T	0.54675	1.24;1.22;0.56	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);	0.052984	0.64402	D	0.000001	T	0.59390	0.2190	L	0.29908	0.895	0.80722	D	1	B;D;B	0.69078	0.117;0.997;0.071	B;D;B	0.63283	0.063;0.913;0.048	T	0.61237	-0.7103	10	0.49607	T	0.09	-23.3693	15.6639	0.77209	0.0:0.0:0.0:1.0	.	307;317;336	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	T	317;307;336;89	ENSP00000437864:K307T;ENSP00000368767:K336T;ENSP00000429718:K89T	ENSP00000368767:K336T	K	-	2	0	ASPH	62659112	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.715000	0.61909	2.158000	0.67659	0.455000	0.32223	AAA		0.254	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
TTPA	7274	broad.mit.edu	37	8	63978615	63978615	+	Nonsense_Mutation	SNP	G	G	A	rs121917851		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:63978615G>A	ENST00000260116.4	-	3	431	c.400C>T	c.(400-402)Cga>Tga	p.R134*	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	134	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.R134*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AGACTTACTCGAAATACGTCA	0.373																																					p.R134X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C400T	8	GRCh37	CM981965	TTPA	M	rs121917851	.						73.0	67.0	69.0					8																	63978615		2203	4300	6503	64141169	SO:0001587	stop_gained	7274	exon3			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.400C>T	8.37:g.63978615G>A	ENSP00000260116:p.Arg134*		64141169	NM_000370	Q71V64	Nonsense_Mutation	SNP	ENST00000260116.4	37	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521383	0.96416	.	.	ENSG00000137561	ENST00000260116	.	.	.	5.54	5.54	0.83059	.	0.048816	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000260116:R134X	R	-	1	2	TTPA	64141169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.786000	0.62425	2.600000	0.87896	0.655000	0.94253	CGA		0.373	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370	
TRIM55	84675	broad.mit.edu	37	8	67047301	67047301	+	Missense_Mutation	SNP	G	G	A	rs138811034	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67047301G>A	ENST00000315962.4	+	3	791	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	TRIM55_ENST00000350034.4_Missense_Mutation_p.E140K|TRIM55_ENST00000353317.5_Missense_Mutation_p.E140K|TRIM55_ENST00000276573.7_Missense_Mutation_p.E140K	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	140					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E140K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCTGAACTGCGAAGTACCCAC	0.522													G|||	2	0.000399361	0.0	0.0014	5008	,	,		22453	0.0		0.001	False		,,,				2504	0.0				p.E140K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	8						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	204.0	164.0	177.0		418,418,418,418	5.5	1.0	8	dbSNP_134	177	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense,missense	TRIM55	NM_033058.2,NM_184085.1,NM_184086.1,NM_184087.1	56,56,56,56	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	140/541,140/549,140/453,140/242	67047301	16,12990	2203	4300	6503	67209855	SO:0001583	missense	84675	exon3			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.418G>A	8.37:g.67047301G>A	ENSP00000323913:p.Glu140Lys		67209855	NM_184085	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	32	5.116955	0.94385	2.27E-4	0.001744	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.51	5.51	0.81932	Zinc finger, B-box (3);	0.153105	0.64402	D	0.000020	T	0.49406	0.1555	L	0.39566	1.225	0.41635	D	0.989042	P;P;D;P	0.56968	0.884;0.947;0.978;0.735	B;P;P;B	0.52514	0.325;0.576;0.701;0.18	T	0.44205	-0.9343	10	0.45353	T	0.12	.	19.41	0.94667	0.0:0.0:1.0:0.0	.	140;140;140;140	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	K	140	ENSP00000323913:E140K;ENSP00000297348:E140K;ENSP00000276573:E140K;ENSP00000332302:E140K	ENSP00000276573:E140K	E	+	1	0	TRIM55	67209855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.030000	0.88816	2.580000	0.87095	0.655000	0.94253	GAA		0.522	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
TRIM55	84675	broad.mit.edu	37	8	67064656	67064656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67064656G>T	ENST00000315962.4	+	8	1403	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E344*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E344*	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	344					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E344*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			aggagaaaaagaaggagaagg	0.413																																					p.E344X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1030T	8						.						42.0	39.0	40.0					8																	67064656		2203	4300	6503	67227210	SO:0001587	stop_gained	84675	exon8			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1030G>T	8.37:g.67064656G>T	ENSP00000323913:p.Glu344*		67227210	NM_184085	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797665	0.90538	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.07	3.16	0.36331	.	0.586799	0.18167	N	0.149570	.	.	.	.	.	.	0.29534	N	0.852557	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.2147	0.37339	0.1931:0.0:0.8069:0.0	.	.	.	.	X	344	.	ENSP00000276573:E344X	E	+	1	0	TRIM55	67227210	0.676000	0.27567	0.004000	0.12327	0.125000	0.20455	2.804000	0.47931	0.566000	0.29273	0.585000	0.79938	GAA		0.413	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
ADHFE1	137872	broad.mit.edu	37	8	67372616	67372616	+	Silent	SNP	C	C	T	rs369719961		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67372616C>T	ENST00000396623.3	+	13	1267	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Silent_p.F364F|C8orf46_ENST00000482608.2_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	412					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.F364F(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AATTCTTATTCGATCTGGATG	0.537											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F412F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1236T	8						.						108.0	105.0	106.0					8																	67372616		2203	4300	6503	67535170	SO:0001819	synonymous_variant	137872	exon13			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1236C>T	8.37:g.67372616C>T		1099	67535170	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Silent	SNP	ENST00000396623.3	37	CCDS6190.2																																																																																				0.537	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
VCPIP1	80124	broad.mit.edu	37	8	67546899	67546899	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67546899T>G	ENST00000310421.4	-	3	3764	c.3506A>C	c.(3505-3507)aAt>aCt	p.N1169T		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1169					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.N1169T(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGTATTCAAATTTTCAGTACC	0.448																																					p.N1169T	NSCLC(179;265 2915 6144 43644)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3506C	8						.						106.0	102.0	104.0					8																	67546899		2203	4300	6503	67709453	SO:0001583	missense	80124	exon3			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3506A>C	8.37:g.67546899T>G	ENSP00000309031:p.Asn1169Thr		67709453	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	8.405	0.842926	0.16963	.	.	ENSG00000175073	ENST00000310421	T	0.29917	1.55	5.59	5.59	0.84812	.	0.265423	0.37906	N	0.001887	T	0.17831	0.0428	N	0.12182	0.205	0.30845	N	0.73524	B	0.16166	0.016	B	0.15870	0.014	T	0.08086	-1.0739	10	0.41790	T	0.15	-17.9356	10.1563	0.42825	0.0:0.0745:0.0:0.9255	.	1169	Q96JH7	VCIP1_HUMAN	T	1169	ENSP00000309031:N1169T	ENSP00000309031:N1169T	N	-	2	0	VCPIP1	67709453	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.978000	0.29488	2.121000	0.65114	0.482000	0.46254	AAT		0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
VCPIP1	80124	broad.mit.edu	37	8	67547158	67547158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67547158G>A	ENST00000310421.4	-	3	3505	c.3247C>T	c.(3247-3249)Cga>Tga	p.R1083*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1083					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R1083*(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCTATTCGAATAAGCTCA	0.403																																					p.R1083X	NSCLC(179;265 2915 6144 43644)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3247T	8						.						87.0	88.0	88.0					8																	67547158		2203	4300	6503	67709712	SO:0001587	stop_gained	80124	exon3			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3247C>T	8.37:g.67547158G>A	ENSP00000309031:p.Arg1083*		67709712	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	41	8.972623	0.99021	.	.	ENSG00000175073	ENST00000310421	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5482	15.3963	0.74798	0.0:0.0:0.8608:0.1392	.	.	.	.	X	1083	.	ENSP00000309031:R1083X	R	-	1	2	VCPIP1	67709712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.226000	0.78060	2.894000	0.99253	0.591000	0.81541	CGA		0.403	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
SGK3	23678	broad.mit.edu	37	8	67710789	67710789	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67710789C>A	ENST00000396596.1	+	3	323	c.109C>A	c.(109-111)Ctg>Atg	p.L37M	SGK3_ENST00000522398.1_Missense_Mutation_p.L37M|SGK3_ENST00000521198.2_Missense_Mutation_p.L37M|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.L37M|SGK3_ENST00000520976.1_Missense_Mutation_p.L37M|SGK3_ENST00000345714.4_Missense_Mutation_p.L37M	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	37	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.L37M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTATAAAGTTCTGGTTTCAGT	0.284																																					p.L37M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109A	8						.						154.0	168.0	163.0					8																	67710789		2203	4300	6503	67873343	SO:0001583	missense	23678	exon3				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.109C>A	8.37:g.67710789C>A	ENSP00000379842:p.Leu37Met		67873343	NM_001033578	A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815577	0.32145	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.56	2.39	0.29439	Phox homologous domain (5);	0.166595	0.41396	D	0.000898	T	0.17238	0.0414	N	0.08118	0	0.37499	D	0.916672	B;B	0.30068	0.225;0.267	B;B	0.27380	0.047;0.079	T	0.07158	-1.0787	9	0.33940	T	0.23	.	2.7252	0.05212	0.2038:0.401:0.0:0.3953	.	37;37	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	M	37	ENSP00000429022:L37M;ENSP00000430463:L37M;ENSP00000430256:L37M;ENSP00000429606:L37M;ENSP00000430691:L37M;ENSP00000379842:L37M;ENSP00000428972:L37M;ENSP00000331816:L37M	ENSP00000262211:L37M	L	+	1	2	SGK3	67873343	0.671000	0.27521	1.000000	0.80357	0.997000	0.91878	0.547000	0.23299	0.705000	0.31890	0.650000	0.86243	CTG		0.284	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3		
MCMDC2	157777	broad.mit.edu	37	8	67808431	67808431	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:67808431T>C	ENST00000422365.2	+	11	1477	c.1306T>C	c.(1306-1308)Tac>Cac	p.Y436H	MCMDC2_ENST00000541540.1_Missense_Mutation_p.Y373H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.Y436H|MCMDC2_ENST00000396592.3_Missense_Mutation_p.Y436H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	436					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.Y431H(1)		endometrium(2)|kidney(2)|lung(5)	9						CATCACAGTGTACATCCCAGG	0.368																																					p.Y436H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1306C	8						.						199.0	176.0	184.0					8																	67808431		2203	4300	6503	67970985	SO:0001583	missense	157777	exon11			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1306T>C	8.37:g.67808431T>C	ENSP00000413632:p.Tyr436His		67970985	NM_173518	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034227	0.75617	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.03	4.88	0.63580	.	0.162993	0.53938	N	0.000055	T	0.26085	0.0636	L	0.36672	1.1	0.27152	N	0.961371	B;B;B	0.15930	0.015;0.004;0.004	B;B;B	0.18561	0.022;0.003;0.003	T	0.18085	-1.0348	10	0.56958	D	0.05	-2.8366	11.874	0.52537	0.0:0.0676:0.0:0.9324	.	373;436;436	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	H	308;436;436;436;373	ENSP00000379837:Y436H;ENSP00000413632:Y436H;ENSP00000317234:Y436H;ENSP00000445629:Y373H	ENSP00000317234:Y436H	Y	+	1	0	C8orf45	67970985	1.000000	0.71417	0.940000	0.37924	0.899000	0.52679	5.431000	0.66507	1.104000	0.41587	0.533000	0.62120	TAC		0.368	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518	
CSPP1	79848	broad.mit.edu	37	8	68007717	68007717	+	Missense_Mutation	SNP	G	G	A	rs201451280		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68007717G>A	ENST00000262210.5	+	6	731	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	269					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E234K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGATGAAATCGAATTAAGGAA	0.383																																					p.E234K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	8						.	G	LYS/GLU	3,3643		0,3,1820	94.0	85.0	88.0		700	5.9	1.0	8		88	1,8163		0,1,4081	yes	missense	CSPP1	NM_024790.6	56	0,4,5901	AA,AG,GG		0.0122,0.0823,0.0339	probably-damaging	234/1222	68007717	4,11806	1823	4082	5905	68170271	SO:0001583	missense	79848	exon6			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.700G>A	8.37:g.68007717G>A	ENSP00000262210:p.Glu234Lys		68170271	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287331	0.80803	8.23E-4	1.22E-4	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75938	-0.98	5.95	5.95	0.96441	.	0.249218	0.18598	U	0.136540	D	0.84844	0.5562	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.927;0.992;0.992	D	0.83615	0.0136	10	0.48119	T	0.1	-16.5399	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	234;269;269	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	K	234;269	ENSP00000262210:E234K	ENSP00000262210:E234K	E	+	1	0	CSPP1	68170271	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.639000	0.61361	2.821000	0.97095	0.650000	0.86243	GAA		0.383	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
CSPP1	79848	broad.mit.edu	37	8	68049832	68049832	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68049832C>A	ENST00000262210.5	+	15	1985	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	CSPP1_ENST00000412460.1_Missense_Mutation_p.L358M	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	687					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.L652M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAAAGGAAATCTGATAAGTAC	0.333																																					p.L652M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1954A	8						.						99.0	95.0	96.0					8																	68049832		1830	4079	5909	68212386	SO:0001583	missense	79848	exon15			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1954C>A	8.37:g.68049832C>A	ENSP00000262210:p.Leu652Met		68212386	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551668	0.65311	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.70749	-0.51;-0.51;-0.51	5.36	1.51	0.23008	.	0.000000	0.56097	D	0.000034	T	0.78142	0.4237	L	0.55990	1.75	0.37023	D	0.896317	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79897	-0.1609	10	0.62326	D	0.03	-7.7696	11.1815	0.48631	0.0:0.747:0.0:0.253	.	358;652;687;687	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	M	652;687;358;358	ENSP00000262210:L652M;ENSP00000415782:L358M;ENSP00000430092:L358M	ENSP00000262210:L652M	L	+	1	2	CSPP1	68212386	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.825000	0.39081	0.342000	0.23796	0.460000	0.39030	CTG		0.333	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
CSPP1	79848	broad.mit.edu	37	8	68066353	68066353	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68066353G>T	ENST00000262210.5	+	17	2239	c.2208G>T	c.(2206-2208)aaG>aaT	p.K736N	CSPP1_ENST00000412460.1_Missense_Mutation_p.K391N	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	771					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.K736N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATTATACAAGAATTTTCTTC	0.348																																					p.K736N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2208T	8						.						90.0	85.0	87.0					8																	68066353		1808	4076	5884	68228907	SO:0001583	missense	79848	exon17			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2208G>T	8.37:g.68066353G>T	ENSP00000262210:p.Lys736Asn		68228907	NM_024790	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541573	0.85917	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.46819	0.86;1.23;1.23	5.77	5.77	0.91146	.	0.100554	0.64402	D	0.000003	T	0.66327	0.2778	L	0.50333	1.59	0.46901	D	0.999244	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.984;0.984	T	0.65985	-0.6035	10	0.87932	D	0	-26.0877	19.9508	0.97198	0.0:0.0:1.0:0.0	.	391;736;771;771	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	N	736;771;391;391	ENSP00000262210:K736N;ENSP00000415782:K391N;ENSP00000430092:K391N	ENSP00000262210:K736N	K	+	3	2	CSPP1	68228907	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.405000	0.44548	2.890000	0.99128	0.585000	0.79938	AAG		0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
ARFGEF1	10565	broad.mit.edu	37	8	68150614	68150614	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68150614C>A	ENST00000262215.3	-	22	3642	c.3253G>T	c.(3253-3255)Gat>Tat	p.D1085Y	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539Y|ARFGEF1_ENST00000518230.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1085					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1085Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGAGCCTGATCTTTTGTTCCA	0.398																																					p.D1085Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3253T	8						.						103.0	95.0	98.0					8																	68150614		2203	4300	6503	68313168	SO:0001583	missense	10565	exon22			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3253G>T	8.37:g.68150614C>A	ENSP00000262215:p.Asp1085Tyr		68313168	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808870	0.70797	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.21191	2.85;2.02	5.49	5.49	0.81192	Armadillo-type fold (1);	0.050719	0.85682	D	0.000000	T	0.15349	0.0370	N	0.14661	0.345	0.80722	D	1	P;B;B	0.47545	0.897;0.0;0.234	B;B;B	0.38921	0.285;0.004;0.195	T	0.03717	-1.1010	10	0.62326	D	0.03	.	19.3565	0.94416	0.0:1.0:0.0:0.0	.	1085;563;539	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	Y	539;1085	ENSP00000428429:D539Y;ENSP00000262215:D1085Y	ENSP00000262215:D1085Y	D	-	1	0	ARFGEF1	68313168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.571000	0.86741	0.655000	0.94253	GAT		0.398	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68165794	68165794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68165794C>A	ENST00000262215.3	-	18	2979	c.2590G>T	c.(2590-2592)Gac>Tac	p.D864Y	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D318Y	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	864					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.D864Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCAGGAAGGTCTTTACTGTCA	0.289																																					p.D864Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2590T	8						.						167.0	149.0	155.0					8																	68165794		2201	4299	6500	68328348	SO:0001583	missense	10565	exon18			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2590G>T	8.37:g.68165794C>A	ENSP00000262215:p.Asp864Tyr		68328348	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801821	0.90538	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.57907	0.37;0.37	5.97	5.97	0.96955	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91017	0.4854	10	0.87932	D	0	.	20.4171	0.99027	0.0:1.0:0.0:0.0	.	864;318	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	Y	318;864	ENSP00000428429:D318Y;ENSP00000262215:D864Y	ENSP00000262215:D864Y	D	-	1	0	ARFGEF1	68328348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.804000	0.85993	2.832000	0.97577	0.585000	0.79938	GAC		0.289	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68179400	68179400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:68179400C>A	ENST00000262215.3	-	12	2127	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.E34*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	580					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E580*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTAGTCTTTCAAATATATTG	0.308																																					p.E580X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1738T	8						.						75.0	76.0	75.0					8																	68179400		2202	4293	6495	68341954	SO:0001587	stop_gained	10565	exon12			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1738G>T	8.37:g.68179400C>A	ENSP00000262215:p.Glu580*		68341954	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	44	10.852585	0.99478	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7032	0.96063	0.0:1.0:0.0:0.0	.	.	.	.	X	34;580	.	ENSP00000262215:E580X	E	-	1	0	ARFGEF1	68341954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.663000	0.90544	0.650000	0.86243	GAA		0.308	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
SULF1	23213	broad.mit.edu	37	8	70512880	70512880	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:70512880G>T	ENST00000260128.4	+	9	1494	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SULF1_ENST00000402687.4_Missense_Mutation_p.W259C|SULF1_ENST00000419716.3_Missense_Mutation_p.W259C|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.W259C	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	259					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.W259C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATAAACACTGGATTATGCAGT	0.368																																					p.W259C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G777T	8						.						136.0	130.0	132.0					8																	70512880		2203	4300	6503	70675434	SO:0001583	missense	23213	exon9			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.777G>T	8.37:g.70512880G>T	ENSP00000260128:p.Trp259Cys		70675434	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720785	0.89205	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	6.02	6.02	0.97574	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.96333	3.805	0.80722	D	1	B	0.30482	0.281	P	0.49708	0.62	D	0.97606	1.0126	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	259	Q8IWU6	SULF1_HUMAN	C	259	ENSP00000403040:W259C;ENSP00000260128:W259C;ENSP00000385704:W259C;ENSP00000390315:W259C	ENSP00000260128:W259C	W	+	3	0	SULF1	70675434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	TGG		0.368	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
SULF1	23213	broad.mit.edu	37	8	70540458	70540458	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:70540458C>A	ENST00000260128.4	+	18	2812	c.2095C>A	c.(2095-2097)Ctt>Att	p.L699I	SULF1_ENST00000402687.4_Missense_Mutation_p.L699I|SULF1_ENST00000419716.3_Missense_Mutation_p.L699I|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L699I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	699					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.L699I(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAGAGCCATCTTCACCCATT	0.428																																					p.L699I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2095A	8						.						105.0	111.0	109.0					8																	70540458		2203	4300	6503	70703012	SO:0001583	missense	23213	exon18			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2095C>A	8.37:g.70540458C>A	ENSP00000260128:p.Leu699Ile		70703012	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785506	0.70337	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.14	5.14	0.70334	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.70275	2.135	0.41055	D	0.985333	B	0.26602	0.154	B	0.25759	0.063	T	0.12630	-1.0540	10	0.56958	D	0.05	.	13.5752	0.61870	0.1554:0.8446:0.0:0.0	.	699	Q8IWU6	SULF1_HUMAN	I	699	ENSP00000403040:L699I;ENSP00000260128:L699I;ENSP00000385704:L699I;ENSP00000390315:L699I	ENSP00000260128:L699I	L	+	1	0	SULF1	70703012	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.289000	0.51747	2.371000	0.80710	0.563000	0.77884	CTT		0.428	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
SLCO5A1	81796	broad.mit.edu	37	8	70585523	70585523	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:70585523C>A	ENST00000260126.4	-	10	2834	c.2128G>T	c.(2128-2130)Gac>Tac	p.D710Y	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.D655Y|SLCO5A1_ENST00000524945.1_Nonstop_Mutation_p.*688L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	710						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D710Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAGGTGGTGTCAATGACTGCT	0.468																																					p.X688L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2063T	8						.						139.0	138.0	139.0					8																	70585523		2203	4300	6503	70748077	SO:0001583	missense	81796	exon8			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2128G>T	8.37:g.70585523C>A	ENSP00000260126:p.Asp710Tyr		70748077	NM_001146008	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.183128|4.183128	0.78677|0.78677	.|.	.|.	ENSG00000137571|ENSG00000137571	ENST00000260126;ENST00000530307|ENST00000524945	T;T|.	0.73897|.	-0.79;-0.79|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76758|.	0.4032|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.74203|.	-0.3741|.	9|.	0.87932|.	D|.	0|.	.|.	20.0572|20.0572	0.97657|0.97657	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	655;710|.	E9PKK5;Q9H2Y9|.	.;SO5A1_HUMAN|.	Y|L	710;655|688	ENSP00000260126:D710Y;ENSP00000431611:D655Y|.	ENSP00000260126:D710Y|.	D|X	-|-	1|2	0|2	SLCO5A1|SLCO5A1	70748077|70748077	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.967000|0.967000	0.64934|0.64934	7.661000|7.661000	0.83786|0.83786	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.468	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
NCOA2	10499	broad.mit.edu	37	8	71068844	71068844	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:71068844A>G	ENST00000452400.2	-	11	1937	c.1756T>C	c.(1756-1758)Ttt>Ctt	p.F586L	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	586					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.F586L(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATAGTCCAAAACAGTCTTTT	0.498			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.F586L			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1756C	8						.						115.0	111.0	113.0					8																	71068844		1889	4128	6017	71231398	SO:0001583	missense	10499	exon11			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1756T>C	8.37:g.71068844A>G	ENSP00000399968:p.Phe586Leu		71231398	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	8.248	0.808462	0.16467	.	.	ENSG00000140396	ENST00000452400	T	0.01414	4.92	5.93	5.93	0.95920	.	0.097389	0.64402	D	0.000001	T	0.02047	0.0064	L	0.32530	0.975	0.80722	D	1	P	0.49559	0.925	P	0.45753	0.492	T	0.71787	-0.4487	10	0.10902	T	0.67	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	586	Q15596	NCOA2_HUMAN	L	586	ENSP00000399968:F586L	ENSP00000399968:F586L	F	-	1	0	NCOA2	71231398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.839000	0.69395	2.263000	0.75096	0.533000	0.62120	TTT		0.498	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
TRAM1	23471	broad.mit.edu	37	8	71520329	71520329	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:71520329G>A	ENST00000262213.2	-	1	275	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	TRAM1_ENST00000536748.1_Silent_p.L5L|TRAM1_ENST00000521049.1_5'UTR|RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000521425.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	36					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L36L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGAGCCCCAGCAGGAAGACC	0.657																																					p.L36L	Ovarian(85;984 1334 5116 12432 40638)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C106T	8						.						45.0	44.0	45.0					8																	71520329		2203	4300	6503	71682883	SO:0001819	synonymous_variant	23471	exon1			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.106C>T	8.37:g.71520329G>A			71682883	NM_014294	B4E0K2	Silent	SNP	ENST00000262213.2	37	CCDS6207.1																																																																																				0.657	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	
XKR9	389668	broad.mit.edu	37	8	71593401	71593401	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:71593401A>G	ENST00000408926.3	+	3	642	c.108A>G	c.(106-108)ggA>ggG	p.G36G	XKR9_ENST00000520030.1_Silent_p.G36G|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	36						integral component of membrane (GO:0016021)		p.G36G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TCCATGAAGGACAGTATGTTT	0.333																																					p.G36G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A108G	8						.						255.0	250.0	252.0					8																	71593401		2203	4300	6503	71755955	SO:0001819	synonymous_variant	389668	exon3			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.108A>G	8.37:g.71593401A>G			71755955	NM_001011720	B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	CCDS34905.1																																																																																				0.333	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
XKR9	389668	broad.mit.edu	37	8	71646602	71646602	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:71646602A>C	ENST00000408926.3	+	5	1599	c.1065A>C	c.(1063-1065)gaA>gaC	p.E355D	XKR9_ENST00000520030.1_Missense_Mutation_p.E355D|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	355						integral component of membrane (GO:0016021)		p.E355D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AATGTGATGAAATTGATGGAA	0.274																																					p.E355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1065C	8						.						40.0	43.0	42.0					8																	71646602		2196	4297	6493	71809156	SO:0001583	missense	389668	exon5			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.1065A>C	8.37:g.71646602A>C	ENSP00000386141:p.Glu355Asp		71809156	NM_001011720	B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549101	0.65311	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	.	.	.	4.98	3.81	0.43845	.	0.412925	0.25668	N	0.029092	T	0.57359	0.2048	M	0.69823	2.125	0.39563	D	0.969159	P	0.42871	0.792	B	0.42798	0.398	T	0.57010	-0.7884	9	0.25106	T	0.35	-9.7431	12.1017	0.53788	0.8565:0.1435:0.0:0.0	.	355	Q5GH70	XKR9_HUMAN	D	355	.	ENSP00000386141:E355D	E	+	3	2	XKR9	71809156	0.997000	0.39634	0.755000	0.31263	0.973000	0.67179	3.821000	0.55700	0.912000	0.36772	0.455000	0.32223	GAA		0.274	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
TRPA1	8989	broad.mit.edu	37	8	72967727	72967727	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:72967727C>A	ENST00000262209.4	-	12	1680	c.1473G>T	c.(1471-1473)aaG>aaT	p.K491N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	491					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.K491N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CATGTCCATTCTTTGCTGCCA	0.388																																					p.K491N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1473T	8						.						64.0	64.0	64.0					8																	72967727		2203	4299	6502	73130281	SO:0001583	missense	8989	exon12			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1473G>T	8.37:g.72967727C>A	ENSP00000262209:p.Lys491Asn		73130281	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519230	0.64634	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.65549	-0.16;-0.16	5.4	-2.45	0.06481	Ankyrin repeat-containing domain (4);	0.183825	0.64402	D	0.000020	T	0.62466	0.2430	L	0.35487	1.065	0.36142	D	0.846886	D	0.67145	0.996	P	0.61275	0.886	T	0.66771	-0.5839	10	0.52906	T	0.07	-27.3158	13.7681	0.63008	0.0:0.62:0.0:0.38	.	491	O75762	TRPA1_HUMAN	N	343;491	ENSP00000428151:K343N;ENSP00000262209:K491N	ENSP00000262209:K491N	K	-	3	2	TRPA1	73130281	0.845000	0.29573	0.988000	0.46212	0.939000	0.58152	-0.165000	0.09968	-0.460000	0.07003	-0.312000	0.09012	AAG		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72967957	72967957	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:72967957C>A	ENST00000262209.4	-	11	1535	c.1328G>T	c.(1327-1329)aGc>aTc	p.S443I	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	443					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.S443I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTTATCTTTGCTTTTGGAATG	0.403																																					p.S443I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1328T	8						.						35.0	35.0	35.0					8																	72967957		2203	4294	6497	73130511	SO:0001583	missense	8989	exon11			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1328G>T	8.37:g.72967957C>A	ENSP00000262209:p.Ser443Ile		73130511	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828454	0.71143	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.72394	-0.65;-0.65	5.4	5.4	0.78164	Ankyrin repeat-containing domain (4);	0.082611	0.85682	D	0.000000	T	0.80308	0.4599	M	0.69248	2.105	0.51233	D	0.999914	P	0.44260	0.83	P	0.53360	0.724	T	0.81066	-0.1101	10	0.56958	D	0.05	-11.8752	19.1513	0.93491	0.0:1.0:0.0:0.0	.	443	O75762	TRPA1_HUMAN	I	295;443	ENSP00000428151:S295I;ENSP00000262209:S443I	ENSP00000262209:S443I	S	-	2	0	TRPA1	73130511	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.497000	0.45354	2.521000	0.84997	0.650000	0.86243	AGC		0.403	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72981383	72981383	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:72981383C>A	ENST00000262209.4	-	3	526	c.319G>T	c.(319-321)Gaa>Taa	p.E107*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	107					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.E107*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGGTTTTTTTCTACAGCACAA	0.388																																					p.E107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G319T	8						.						158.0	165.0	163.0					8																	72981383		2203	4300	6503	73143937	SO:0001587	stop_gained	8989	exon3			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.319G>T	8.37:g.72981383C>A	ENSP00000262209:p.Glu107*		73143937	NM_007332	A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	38	6.657439	0.97739	.	.	ENSG00000104321	ENST00000262209	.	.	.	5.74	4.81	0.61882	.	0.432367	0.28653	N	0.014597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-7.9419	6.2588	0.20889	0.0:0.5374:0.352:0.1106	.	.	.	.	X	107	.	ENSP00000262209:E107X	E	-	1	0	TRPA1	73143937	0.997000	0.39634	0.998000	0.56505	0.846000	0.48090	1.760000	0.38430	2.715000	0.92844	0.655000	0.94253	GAA		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
TRPA1	8989	broad.mit.edu	37	8	72984052	72984052	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:72984052C>A	ENST00000262209.4	-	2	369	c.162G>T	c.(160-162)aaG>aaT	p.K54N		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	54					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.K54N(2)|p.K54K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTTTAATTTCTTTTGCTTAT	0.353																																					p.K54N												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G162T	8						.						131.0	117.0	121.0					8																	72984052		2203	4300	6503	73146606	SO:0001583	missense	8989	exon2			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.162G>T	8.37:g.72984052C>A	ENSP00000262209:p.Lys54Asn		73146606	NM_007332	A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	3.640	-0.073760	0.07184	.	.	ENSG00000104321	ENST00000262209	T	0.39406	1.08	5.08	-5.05	0.02955	.	0.706131	0.13537	N	0.380516	T	0.20820	0.0501	L	0.38531	1.155	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.18085	-1.0348	10	0.22109	T	0.4	-4.2979	1.1527	0.01789	0.1479:0.2877:0.246:0.3184	.	54	O75762	TRPA1_HUMAN	N	54	ENSP00000262209:K54N	ENSP00000262209:K54N	K	-	3	2	TRPA1	73146606	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-0.652000	0.05366	-0.581000	0.05937	0.563000	0.77884	AAG		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	
KCNB2	9312	broad.mit.edu	37	8	73480176	73480176	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:73480176A>G	ENST00000523207.1	+	2	795	c.207A>G	c.(205-207)acA>acG	p.T69T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	69					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T69T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTGCAACACACACGAGAGCC	0.522																																					p.T69T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A207G	8						.						81.0	79.0	80.0					8																	73480176		2203	4300	6503	73642730	SO:0001819	synonymous_variant	9312	exon2			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.207A>G	8.37:g.73480176A>G			73642730	NM_004770	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KCNB2	9312	broad.mit.edu	37	8	73848677	73848677	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:73848677A>G	ENST00000523207.1	+	3	1675	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	363					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T363A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGAAGATGCTACCAAGTTCAC	0.428																																					p.T363A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1087G	8						.						119.0	121.0	120.0					8																	73848677		2203	4300	6503	74011231	SO:0001583	missense	9312	exon3			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1087A>G	8.37:g.73848677A>G	ENSP00000430846:p.Thr363Ala		74011231	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998586	0.74818	.	.	ENSG00000182674	ENST00000523207	D	0.98701	-5.08	5.58	5.58	0.84498	Ion transport (1);	0.000000	0.38959	N	0.001508	D	0.97804	0.9279	L	0.53561	1.675	0.58432	D	0.999994	P	0.42123	0.771	P	0.45276	0.475	D	0.98660	1.0683	10	0.72032	D	0.01	.	15.7481	0.77962	1.0:0.0:0.0:0.0	.	363	Q92953	KCNB2_HUMAN	A	363	ENSP00000430846:T363A	ENSP00000430846:T363A	T	+	1	0	KCNB2	74011231	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.121000	0.65114	0.533000	0.62120	ACC		0.428	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
TERF1	7013	broad.mit.edu	37	8	73933027	73933027	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:73933027T>C	ENST00000276603.5	+	3	547	c.524T>C	c.(523-525)tTa>tCa	p.L175S	RNU6-285P_ENST00000410556.1_RNA|TERF1_ENST00000276602.6_Missense_Mutation_p.L175S	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	175	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.L175S(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			ATACAGAATTTAATTAAAATT	0.289																																					p.L175S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T524C	8						.						17.0	16.0	16.0					8																	73933027		2184	4276	6460	74095581	SO:0001583	missense	7013	exon3			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.524T>C	8.37:g.73933027T>C	ENSP00000276603:p.Leu175Ser		74095581	NM_017489	A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367082	0.61513	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874;ENST00000517390	.	.	.	4.82	4.82	0.62117	Telomere repeat-binding factor, dimerisation domain (4);	0.000000	0.64402	D	0.000003	T	0.75917	0.3915	M	0.68952	2.095	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78708	-0.2099	9	0.87932	D	0	.	12.1853	0.54234	0.0:0.0:0.0:1.0	.	175;175	P54274-2;P54274	.;TERF1_HUMAN	S	175;175;143;71	.	ENSP00000276602:L175S	L	+	2	0	TERF1	74095581	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.388000	0.59633	1.927000	0.55829	0.383000	0.25322	TTA		0.289	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489	
SBSPON	157869	broad.mit.edu	37	8	73979589	73979589	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:73979589A>G	ENST00000297354.6	-	5	986	c.782T>C	c.(781-783)tTt>tCt	p.F261S	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	261					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.F256S(1)									TATAAAAATAAAACTGTGAAC	0.353																																					p.F261S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T782C	8						.						66.0	64.0	65.0					8																	73979589		1811	4069	5880	74142143	SO:0001583	missense	157869	exon5				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.782T>C	8.37:g.73979589A>G	ENSP00000297354:p.Phe261Ser		74142143	NM_153225	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635003	0.87760	.	.	ENSG00000164764	ENST00000297354	T	0.23754	1.89	5.99	5.99	0.97316	.	0.055258	0.85682	D	0.000000	T	0.55049	0.1896	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60073	-0.7334	10	0.87932	D	0	-22.3614	16.1945	0.82018	1.0:0.0:0.0:0.0	.	261	Q8IVN8	RPESP_HUMAN	S	261	ENSP00000297354:F261S	ENSP00000297354:F261S	F	-	2	0	C8orf84	74142143	1.000000	0.71417	0.930000	0.37139	0.965000	0.64279	7.820000	0.86633	2.295000	0.77249	0.524000	0.50904	TTT		0.353	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225	
TMEM70	54968	broad.mit.edu	37	8	74893415	74893415	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:74893415G>A	ENST00000312184.5	+	3	415	c.342G>A	c.(340-342)acG>acA	p.T114T	TMEM70_ENST00000517439.1_3'UTR|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	114					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)		p.T114T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTTATTCTACGAGTCTGATTG	0.318																																					p.T114T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G342A	8						.						101.0	98.0	99.0					8																	74893415		2203	4300	6503	75055969	SO:0001819	synonymous_variant	54968	exon3			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.342G>A	8.37:g.74893415G>A			75055969	NM_017866	E9PDY9|Q9NWY5	Silent	SNP	ENST00000312184.5	37	CCDS6215.1																																																																																				0.318	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379028.1	NM_017866	
PI15	51050	broad.mit.edu	37	8	75757461	75757461	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:75757461G>T	ENST00000260113.2	+	4	670	c.491G>T	c.(490-492)aGa>aTa	p.R164I	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R164I|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	164	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.R164I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TGTCCTATGAGATGTTTTGGT	0.368																																					p.R164I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491T	8						.						211.0	191.0	198.0					8																	75757461		2203	4300	6503	75920016	SO:0001583	missense	51050	exon4			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.491G>T	8.37:g.75757461G>T	ENSP00000260113:p.Arg164Ile		75920016	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452063	0.84209	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.07444	3.19;3.19	5.27	5.27	0.74061	CAP domain (3);	0.049628	0.85682	D	0.000000	T	0.21103	0.0508	M	0.71206	2.165	0.80722	D	1	P	0.52316	0.952	P	0.50490	0.642	T	0.00254	-1.1874	10	0.52906	T	0.07	.	19.0772	0.93168	0.0:0.0:1.0:0.0	.	164	O43692	PI15_HUMAN	I	164	ENSP00000260113:R164I;ENSP00000428567:R164I	ENSP00000260113:R164I	R	+	2	0	PI15	75920016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.159000	0.71856	2.725000	0.93324	0.557000	0.71058	AGA		0.368	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
HNF4G	3174	broad.mit.edu	37	8	76471263	76471263	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:76471263C>T	ENST00000354370.1	+	9	1243	c.973C>T	c.(973-975)Cta>Tta	p.L325L	HNF4G_ENST00000396423.2_Silent_p.L362L			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	325					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L325L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCAGGAAATGCTATTAGGTGG	0.328																																					p.L362L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1084T	8						.						65.0	68.0	67.0					8																	76471263		2203	4300	6503	76633818	SO:0001819	synonymous_variant	3174	exon8				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.973C>T	8.37:g.76471263C>T			76633818	NM_004133	Q7Z2V9|Q9UH81|Q9UIS6	Silent	SNP	ENST00000354370.1	37																																																																																					0.328	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133	
ZFHX4	79776	broad.mit.edu	37	8	77616880	77616880	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77616880C>T	ENST00000521891.2	+	2	1005	c.557C>T	c.(556-558)tCg>tTg	p.S186L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S186L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S186L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S186L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S186L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCACCTATGTCGTTCTACCCA	0.483										HNSCC(33;0.089)																											p.S186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	8						.						74.0	72.0	73.0					8																	77616880		2000	4177	6177	77779435	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.557C>T	8.37:g.77616880C>T	ENSP00000430497:p.Ser186Leu		77779435	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270925	0.40194	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.42	5.42	0.78866	.	0.196712	0.25055	U	0.033486	T	0.40145	0.1105	L	0.43152	1.355	0.80722	D	1	B;P;P;P	0.49253	0.384;0.519;0.519;0.921	B;B;B;P	0.44897	0.035;0.123;0.077;0.463	T	0.33854	-0.9852	10	0.87932	D	0	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	186;186;186;186	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	186	ENSP00000430497:S186L;ENSP00000399605:S186L;ENSP00000050961:S186L;ENSP00000430848:S186L	ENSP00000050961:S186L	S	+	2	0	ZFHX4	77779435	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.609000	0.82925	2.821000	0.97095	0.650000	0.86243	TCG		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77617034	77617034	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77617034G>T	ENST00000521891.2	+	2	1159	c.711G>T	c.(709-711)gaG>gaT	p.E237D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E237D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E237D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E237D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E237D(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAAGAGAGAGAAAGACTATC	0.463										HNSCC(33;0.089)																											p.E237D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G711T	8						.						128.0	120.0	123.0					8																	77617034		2060	4214	6274	77779589	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.711G>T	8.37:g.77617034G>T	ENSP00000430497:p.Glu237Asp		77779589	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	8.988	0.977045	0.18812	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.45276	0.9;0.95;0.92;0.91	5.42	4.49	0.54785	.	0.154833	0.29486	U	0.012015	T	0.15652	0.0377	N	0.01705	-0.755	0.36313	D	0.857772	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.20042	-1.0287	10	0.08179	T	0.78	.	11.4082	0.49911	0.0:0.0:0.6568:0.3432	.	237;237;237;237	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	237	ENSP00000430497:E237D;ENSP00000399605:E237D;ENSP00000050961:E237D;ENSP00000430848:E237D	ENSP00000050961:E237D	E	+	3	2	ZFHX4	77779589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.892000	0.39748	2.821000	0.97095	0.650000	0.86243	GAG		0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77618197	77618197	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77618197C>T	ENST00000521891.2	+	2	2322	c.1874C>T	c.(1873-1875)tCg>tTg	p.S625L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S625L|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S625L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S625L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S625L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGGGGTCTTCGAGGTCTCTT	0.532										HNSCC(33;0.089)																											p.S625L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1874T	8						.						90.0	93.0	92.0					8																	77618197		2011	4206	6217	77780752	SO:0001583	missense	79776	exon2				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1874C>T	8.37:g.77618197C>T	ENSP00000430497:p.Ser625Leu		77780752	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609759	0.46527	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55234	0.54;0.58;0.54;0.53	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.38959	U	0.001519	T	0.70465	0.3227	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.76494	0.992;0.996;0.996;0.999	P;P;P;D	0.67103	0.619;0.788;0.788;0.949	T	0.72228	-0.4354	10	0.72032	D	0.01	.	19.15	0.93483	0.0:1.0:0.0:0.0	.	625;625;625;625	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	L	625	ENSP00000430497:S625L;ENSP00000399605:S625L;ENSP00000050961:S625L;ENSP00000430848:S625L	ENSP00000050961:S625L	S	+	2	0	ZFHX4	77780752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.750000	0.94351	0.655000	0.94253	TCG		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77620100	77620100	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77620100A>C	ENST00000521891.2	+	3	3358	c.2910A>C	c.(2908-2910)aaA>aaC	p.K970N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K944N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K944N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K944N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	944					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K970N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATATGCAGAAATATCAACTGG	0.438										HNSCC(33;0.089)																											p.K970N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2910C	8						.						100.0	102.0	101.0					8																	77620100		2199	4296	6495	77782655	SO:0001583	missense	79776	exon3				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2910A>C	8.37:g.77620100A>C	ENSP00000430497:p.Lys970Asn		77782655	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.568	0.879440	0.17467	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.19	0.225	0.15325	Zinc finger, U1-type (1);	0.000000	0.45361	U	0.000377	T	0.70842	0.3270	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.997;0.99	T	0.71764	-0.4494	10	0.87932	D	0	.	10.6543	0.45665	0.5641:0.0:0.4359:0.0	.	944;944;970;944	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	N	970;970;944;944;944	ENSP00000430497:K970N;ENSP00000399605:K944N;ENSP00000050961:K944N;ENSP00000430848:K944N	ENSP00000050961:K944N	K	+	3	2	ZFHX4	77782655	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.788000	0.38714	-0.088000	0.12506	-0.359000	0.07587	AAA		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77690553	77690553	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77690553C>T	ENST00000521891.2	+	4	3651	c.3203C>T	c.(3202-3204)tCg>tTg	p.S1068L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1042L|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1042L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1042L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1042					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1068L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGTCCGTTCGGTGAAGCAT	0.507										HNSCC(33;0.089)																											p.S1068L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3203T	8						.						153.0	159.0	157.0					8																	77690553		2043	4198	6241	77853108	SO:0001583	missense	79776	exon4				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3203C>T	8.37:g.77690553C>T	ENSP00000430497:p.Ser1068Leu		77853108	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856338	0.51376	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.37857	U	0.001913	T	0.73179	0.3554	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	T	0.74426	-0.3669	10	0.66056	D	0.02	.	19.3361	0.94319	0.0:1.0:0.0:0.0	.	1042;1042;1068	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1068;1068;1042;1042;1042	ENSP00000430497:S1068L;ENSP00000399605:S1042L;ENSP00000050961:S1042L;ENSP00000430848:S1042L	ENSP00000050961:S1042L	S	+	2	0	ZFHX4	77853108	1.000000	0.71417	0.178000	0.23040	0.997000	0.91878	7.609000	0.82925	2.878000	0.98634	0.650000	0.86243	TCG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77764621	77764621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77764621C>T	ENST00000521891.2	+	10	5912	c.5464C>T	c.(5464-5466)Cca>Tca	p.P1822S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1777S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1777S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1796S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1777					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1822S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			gccaccacctccacagcagca	0.478										HNSCC(33;0.089)																											p.P1822S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5464T	8						.						24.0	23.0	23.0					8																	77764621		2156	4242	6398	77927176	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5464C>T	8.37:g.77764621C>T	ENSP00000430497:p.Pro1822Ser		77927176	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.422283	0.00186	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.45276	0.9;0.95;0.91;0.91	2.3	2.3	0.28687	.	0.570420	0.13046	U	0.418085	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.08055	0.001;0.003;0.003	T	0.21930	-1.0231	10	0.08381	T	0.77	.	8.1556	0.31167	0.0:1.0:0.0:0.0	.	1777;1777;1822	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1822;1822;1777;1777;1796	ENSP00000430497:P1822S;ENSP00000399605:P1777S;ENSP00000050961:P1777S;ENSP00000430848:P1796S	ENSP00000050961:P1777S	P	+	1	0	ZFHX4	77927176	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.539000	0.23175	1.310000	0.45006	0.632000	0.83419	CCA		0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77765144	77765144	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77765144C>T	ENST00000521891.2	+	10	6435	c.5987C>T	c.(5986-5988)tCt>tTt	p.S1996F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1951F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1951F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1970F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1951	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1996F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TATCCAATTTCTCCATCTTCT	0.507										HNSCC(33;0.089)																											p.S1996F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5987T	8						.						44.0	44.0	44.0					8																	77765144		1915	4131	6046	77927699	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5987C>T	8.37:g.77765144C>T	ENSP00000430497:p.Ser1996Phe		77927699	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361617	0.82353	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.71	4.06	4.06	0.47325	.	0.000000	0.43110	U	0.000607	T	0.45054	0.1323	L	0.44542	1.39	0.34596	D	0.715987	B;P;P	0.36249	0.41;0.545;0.545	B;B;B	0.38755	0.064;0.281;0.136	T	0.63594	-0.6602	10	0.59425	D	0.04	.	16.8418	0.85971	0.0:1.0:0.0:0.0	.	1951;1951;1996	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1996;1996;1951;1951;1970	ENSP00000430497:S1996F;ENSP00000399605:S1951F;ENSP00000050961:S1951F;ENSP00000430848:S1970F	ENSP00000050961:S1951F	S	+	2	0	ZFHX4	77927699	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	4.645000	0.61404	2.295000	0.77249	0.435000	0.28638	TCT		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77766073	77766073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77766073C>T	ENST00000521891.2	+	10	7364	c.6916C>T	c.(6916-6918)Cga>Tga	p.R2306*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R2261*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R2261*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R2280*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R2290*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGTACATTCGAACAAGCAA	0.388										HNSCC(33;0.089)																											p.R2306X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6916T	8						.						96.0	93.0	94.0					8																	77766073		1944	4150	6094	77928628	SO:0001587	stop_gained	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6916C>T	8.37:g.77766073C>T	ENSP00000430497:p.Arg2306*		77928628	NM_024721	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	48	14.908460	0.99815	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.34	2.28	0.28536	.	0.000000	0.37857	U	0.001912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9636	0.58472	0.2989:0.7011:0.0:0.0	.	.	.	.	X	2306;2290;2261;2261;2280	.	ENSP00000050961:R2261X	R	+	1	2	ZFHX4	77928628	0.756000	0.28383	0.310000	0.25168	0.882000	0.50991	1.523000	0.35932	1.115000	0.41800	0.650000	0.86243	CGA		0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77767750	77767750	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77767750C>A	ENST00000521891.2	+	10	9041	c.8593C>A	c.(8593-8595)Ctc>Atc	p.L2865I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2820I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2820I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2839I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2820					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2849I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGACAAATTTCTCTTTTCTCT	0.488										HNSCC(33;0.089)																											p.L2865I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8593A	8						.						94.0	96.0	95.0					8																	77767750		1969	4146	6115	77930305	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8593C>A	8.37:g.77767750C>A	ENSP00000430497:p.Leu2865Ile		77930305	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744269	0.15710	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49139	0.79;0.84;0.81;0.8	5.25	4.35	0.52113	.	0.000000	0.40144	U	0.001178	T	0.31734	0.0806	N	0.22421	0.69	0.25788	N	0.984655	B;B;B	0.22080	0.038;0.064;0.064	B;B;B	0.30251	0.032;0.07;0.113	T	0.20505	-1.0273	10	0.18276	T	0.48	.	8.0132	0.30365	0.2859:0.641:0.0:0.0731	.	2820;2820;2865	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2865;2849;2820;2820;2839	ENSP00000430497:L2865I;ENSP00000399605:L2820I;ENSP00000050961:L2820I;ENSP00000430848:L2839I	ENSP00000050961:L2820I	L	+	1	0	ZFHX4	77930305	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	3.209000	0.51122	1.397000	0.46682	0.561000	0.74099	CTC		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77767842	77767842	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77767842C>T	ENST00000521891.2	+	10	9133	c.8685C>T	c.(8683-8685)aaC>aaT	p.N2895N	ZFHX4_ENST00000050961.6_Silent_p.N2850N|ZFHX4_ENST00000455469.2_Silent_p.N2850N|ZFHX4_ENST00000518282.1_Silent_p.N2869N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N2879N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGATGACAACGCCGACCGCA	0.498										HNSCC(33;0.089)																											p.N2895N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8685T	8						.						79.0	79.0	79.0					8																	77767842		1984	4161	6145	77930397	SO:0001819	synonymous_variant	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8685C>T	8.37:g.77767842C>T			77930397	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77768313	77768313	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77768313G>A	ENST00000521891.2	+	10	9604	c.9156G>A	c.(9154-9156)ccG>ccA	p.P3052P	ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3007	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3036P(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGGCTCCGACCACGGTTC	0.507										HNSCC(33;0.089)																											p.P3052P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G9156A	8						.						102.0	102.0	102.0					8																	77768313		2006	4172	6178	77930868	SO:0001819	synonymous_variant	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9156G>A	8.37:g.77768313G>A			77930868	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77775450	77775450	+	Missense_Mutation	SNP	C	C	A	rs199874527		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77775450C>A	ENST00000521891.2	+	11	9948	c.9500C>A	c.(9499-9501)cCt>cAt	p.P3167H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3118H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3122H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3141H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3151H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			cctccaccacctcctcctcct	0.527										HNSCC(33;0.089)																											p.P3167H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9500A	8						.						53.0	54.0	53.0					8																	77775450		2068	4228	6296	77938005	SO:0001583	missense	79776	exon11				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9500C>A	8.37:g.77775450C>A	ENSP00000430497:p.Pro3167His		77938005	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402460	0.25291	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.28	4.28	0.50868	.	0.000000	0.40554	U	0.001079	D	0.82884	0.5134	L	0.50333	1.59	0.43065	D	0.994693	B	0.11235	0.004	B	0.11329	0.006	T	0.80999	-0.1131	10	0.59425	D	0.04	.	11.1258	0.48317	0.1848:0.8152:0.0:0.0	.	3122	Q86UP3-4	.	H	3167;3151;3122;3118;3141	ENSP00000430497:P3167H;ENSP00000399605:P3122H;ENSP00000050961:P3118H;ENSP00000430848:P3141H	ENSP00000050961:P3118H	P	+	2	0	ZFHX4	77938005	.	.	0.979000	0.43373	0.963000	0.63663	.	.	2.345000	0.79718	0.651000	0.88453	CCT		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77776719	77776719	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:77776719A>C	ENST00000521891.2	+	11	11217	c.10769A>C	c.(10768-10770)aAt>aCt	p.N3590T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N3541T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N3545T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N3564T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.N3574T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACTTAGATAATTCTTTGGAA	0.458										HNSCC(33;0.089)																											p.N3590T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10769C	8						.						48.0	47.0	47.0					8																	77776719		1974	4176	6150	77939274	SO:0001583	missense	79776	exon11				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10769A>C	8.37:g.77776719A>C	ENSP00000430497:p.Asn3590Thr		77939274	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	11.31	1.602394	0.28534	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.49720	0.77;0.82;0.79;0.78	4.6	4.6	0.57074	.	0.000000	0.47455	U	0.000227	T	0.60248	0.2254	L	0.57536	1.79	0.50467	D	0.999875	D	0.61697	0.99	P	0.58928	0.848	T	0.64257	-0.6450	10	0.62326	D	0.03	.	14.4505	0.67382	1.0:0.0:0.0:0.0	.	3545	Q86UP3-4	.	T	3590;3574;3545;3541;3564	ENSP00000430497:N3590T;ENSP00000399605:N3545T;ENSP00000050961:N3541T;ENSP00000430848:N3564T	ENSP00000050961:N3541T	N	+	2	0	ZFHX4	77939274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.664000	0.68045	2.064000	0.61679	0.528000	0.53228	AAT		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
IL7	3574	broad.mit.edu	37	8	79648715	79648715	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:79648715C>A	ENST00000263851.4	-	5	1008	c.408G>T	c.(406-408)aaG>aaT	p.K136N	IL7_ENST00000520269.1_Missense_Mutation_p.K92N|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	136					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)	p.K136N(1)		endometrium(2)|large_intestine(2)|lung(1)	5						TCACCAAACTCTTTGTTGGTT	0.323																																					p.K136N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G408T	8						.						49.0	48.0	48.0					8																	79648715		2203	4299	6502	79811270	SO:0001583	missense	3574	exon5			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.408G>T	8.37:g.79648715C>A	ENSP00000263851:p.Lys136Asn		79811270	NM_000880	A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.543773	0.27563	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114	T	0.50001	0.76	3.4	1.55	0.23275	.	0.152965	0.30752	N	0.008959	T	0.47060	0.1425	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.67900	0.89;0.954	T	0.33214	-0.9877	9	.	.	.	.	5.8794	0.18846	0.0:0.7497:0.0:0.2503	.	136;92	P13232;Q5FBY9	IL7_HUMAN;.	N	136;92;89	ENSP00000427750:K92N	.	K	-	3	2	IL7	79811270	0.998000	0.40836	0.998000	0.56505	0.125000	0.20455	0.093000	0.15086	0.429000	0.26202	0.644000	0.83932	AAG		0.323	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1		
STMN2	11075	broad.mit.edu	37	8	80553627	80553627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:80553627C>T	ENST00000220876.7	+	3	512	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	STMN2_ENST00000518491.1_Nonsense_Mutation_p.Q33*|STMN2_ENST00000518111.1_Nonsense_Mutation_p.Q44*	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	44	Regulatory/phosphorylation domain. {ECO:0000255}.|SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)	p.Q44*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GGAAGTGAAGCAAATCAACAA	0.403																																					p.Q44X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C130T	8						.						84.0	81.0	82.0					8																	80553627		1940	4156	6096	80716182	SO:0001587	stop_gained	11075	exon3				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.130C>T	8.37:g.80553627C>T	ENSP00000220876:p.Gln44*		80716182	NM_007029	A8K9M2|G3V110|O14952|Q6PK68	Nonsense_Mutation	SNP	ENST00000220876.7	37	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226091	0.95173	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.68	4.8	0.61643	.	0.114070	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.4926	15.1331	0.72542	0.0:0.7325:0.2675:0.0	.	.	.	.	X	44;44;44;33	.	ENSP00000220876:Q44X	Q	+	1	0	STMN2	80716182	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.505000	0.45424	1.380000	0.46344	0.467000	0.42956	CAA		0.403	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029	
ZBTB10	65986	broad.mit.edu	37	8	81411785	81411785	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:81411785G>A	ENST00000430430.1	+	3	1808	c.1029G>A	c.(1027-1029)gaG>gaA	p.E343E	ZBTB10_ENST00000426744.2_Silent_p.E343E|ZBTB10_ENST00000455036.3_Silent_p.E343E|ZBTB10_ENST00000379091.4_Silent_p.E51E	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	343					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.E343E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGCCAAATGAGAACTCTTATT	0.343																																					p.E343E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	8						.						89.0	91.0	90.0					8																	81411785		1882	4122	6004	81574340	SO:0001819	synonymous_variant	65986	exon2			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1029G>A	8.37:g.81411785G>A			81574340	NM_023929	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	CCDS47880.1																																																																																				0.343	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929	
ZBTB10	65986	broad.mit.edu	37	8	81412187	81412187	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:81412187G>A	ENST00000430430.1	+	3	2210	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	ZBTB10_ENST00000426744.2_Silent_p.V477V|ZBTB10_ENST00000455036.3_Silent_p.V477V|ZBTB10_ENST00000379091.4_Silent_p.V185V	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	477					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.V477V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CTGTAGTTGTGGACTATAATA	0.358																																					p.V477V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431A	8						.						95.0	95.0	95.0					8																	81412187		1807	4079	5886	81574742	SO:0001819	synonymous_variant	65986	exon2			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1431G>A	8.37:g.81412187G>A			81574742	NM_023929	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	CCDS47880.1																																																																																				0.358	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929	
PAG1	55824	broad.mit.edu	37	8	81903751	81903751	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:81903751C>T	ENST00000220597.4	-	5	850	c.140G>A	c.(139-141)cGa>cAa	p.R47Q		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	47					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.R47Q(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			ACTATGCTGTCGCGGCTTCTT	0.488																																					p.R47Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	8						.						140.0	119.0	126.0					8																	81903751		2203	4300	6503	82066306	SO:0001583	missense	55824	exon5			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.140G>A	8.37:g.81903751C>T	ENSP00000220597:p.Arg47Gln		82066306	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494039	0.44352	.	.	ENSG00000076641	ENST00000220597	.	.	.	5.13	4.12	0.48240	.	0.160550	0.53938	D	0.000043	T	0.21267	0.0512	L	0.57536	1.79	0.09310	N	1	P	0.46327	0.876	B	0.34652	0.187	T	0.40794	-0.9544	9	0.51188	T	0.08	-23.321	3.3271	0.07071	0.0:0.6059:0.0:0.394	.	47	Q9NWQ8	PAG1_HUMAN	Q	47	.	ENSP00000220597:R47Q	R	-	2	0	PAG1	82066306	0.998000	0.40836	0.020000	0.16555	0.636000	0.38137	1.410000	0.34691	2.374000	0.81015	0.655000	0.94253	CGA		0.488	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440	
PAG1	55824	broad.mit.edu	37	8	81905453	81905453	+	Missense_Mutation	SNP	C	C	T	rs151324516		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:81905453C>T	ENST00000220597.4	-	4	720	c.10G>A	c.(10-12)Gcg>Acg	p.A4T		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	4				A -> V (in Ref. 4; AAH90931). {ECO:0000305}.	epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.A4T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGGCTCCCCGCGGGCCCCATG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16509	0.001		0.0	False		,,,				2504	0.0				p.A4T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10A	8						.	C	THR/ALA	0,4406		0,0,2203	36.0	37.0	37.0		10	-1.4	0.0	8	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	missense	PAG1	NM_018440.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	4/433	81905453	2,13004	2203	4300	6503	82068008	SO:0001583	missense	55824	exon4			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.10G>A	8.37:g.81905453C>T	ENSP00000220597:p.Ala4Thr		82068008	NM_018440	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Missense_Mutation	SNP	ENST00000220597.4	37	CCDS6227.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921653	0.17982	0.0	2.33E-4	ENSG00000076641	ENST00000220597	.	.	.	5.48	-1.35	0.09114	.	1.718550	0.03233	N	0.179214	T	0.28101	0.0693	L	0.34521	1.04	0.09310	N	1	B	0.23540	0.087	B	0.11329	0.006	T	0.04427	-1.0952	9	0.19590	T	0.45	-0.0701	3.5452	0.07826	0.2535:0.4545:0.1691:0.1229	.	4	Q9NWQ8	PAG1_HUMAN	T	4	.	ENSP00000220597:A4T	A	-	1	0	PAG1	82068008	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.167000	0.09940	-1.026000	0.03330	-1.193000	0.01689	GCG		0.597	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440	
FABP9	646480	broad.mit.edu	37	8	82371562	82371562	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:82371562G>A	ENST00000379071.2	-	2	139	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	28					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.F28F(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCCGGGCTGCGAAATTCACTC	0.393																																					p.F28F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	8						.						100.0	99.0	99.0					8																	82371562		2203	4300	6503	82534117	SO:0001819	synonymous_variant	646480	exon2					8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.84C>T	8.37:g.82371562G>A			82534117	NM_001080526		Silent	SNP	ENST00000379071.2	37																																																																																					0.393	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526	
SLC10A5	347051	broad.mit.edu	37	8	82606447	82606447	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:82606447G>T	ENST00000518568.1	-	1	1962	c.761C>A	c.(760-762)tCt>tAt	p.S254Y		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	254						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.S254Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTATATATAAGAATTGACAGG	0.373																																					p.S254Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761A	8						.						73.0	76.0	75.0					8																	82606447		2203	4300	6503	82769002	SO:0001583	missense	347051	exon1				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.761C>A	8.37:g.82606447G>T	ENSP00000428612:p.Ser254Tyr		82769002	NM_001010893	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190542	0.58017	.	.	ENSG00000253598	ENST00000518568	T	0.12147	2.71	6.01	5.12	0.69794	.	0.123130	0.37261	N	0.002173	T	0.36908	0.0984	M	0.70275	2.135	0.41973	D	0.990769	D	0.89917	1.0	D	0.76071	0.987	T	0.17961	-1.0352	10	0.56958	D	0.05	-12.2582	15.0279	0.71682	0.0:0.143:0.857:0.0	.	254	Q5PT55	NTCP5_HUMAN	Y	254	ENSP00000428612:S254Y	ENSP00000428612:S254Y	S	-	2	0	SLC10A5	82769002	1.000000	0.71417	0.938000	0.37757	0.441000	0.31987	3.847000	0.55895	1.530000	0.49136	0.585000	0.79938	TCT		0.373	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
CHMP4C	92421	broad.mit.edu	37	8	82670430	82670430	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:82670430G>T	ENST00000297265.4	+	4	730	c.537G>T	c.(535-537)aaG>aaT	p.K179N		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	179	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)	p.K179N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAATAAGAAGATGACAAATA	0.448																																					p.K179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G537T	8						.						113.0	109.0	111.0					8																	82670430		2203	4300	6503	82832985	SO:0001583	missense	92421	exon4			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.537G>T	8.37:g.82670430G>T	ENSP00000297265:p.Lys179Asn		82832985	NM_152284	B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843746	0.16963	.	.	ENSG00000164695	ENST00000297265	T	0.73575	-0.76	6.17	6.17	0.99709	.	0.180931	0.64402	D	0.000006	T	0.55433	0.1920	N	0.13371	0.34	0.34380	D	0.693004	B	0.09022	0.002	B	0.17979	0.02	T	0.58640	-0.7601	10	0.27082	T	0.32	-41.792	8.1392	0.31073	0.1799:0.0:0.8201:0.0	.	179	Q96CF2	CHM4C_HUMAN	N	179	ENSP00000297265:K179N	ENSP00000297265:K179N	K	+	3	2	CHMP4C	82832985	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.612000	0.36889	2.941000	0.99782	0.655000	0.94253	AAG		0.448	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284	
RALYL	138046	broad.mit.edu	37	8	85441609	85441609	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:85441609C>T	ENST00000521268.1	+	2	1158	c.53C>T	c.(52-54)tCc>tTc	p.S18F	RALYL_ENST00000518566.1_Missense_Mutation_p.S18F|RALYL_ENST00000521695.1_Missense_Mutation_p.S18F|RALYL_ENST00000517638.1_Missense_Mutation_p.S31F|RALYL_ENST00000522455.1_Missense_Mutation_p.S18F	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	18							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S18F(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GACCCCAAGTCCATCAACTCC	0.383																																					p.S18F												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C53T	8						.						66.0	71.0	69.0					8																	85441609		2013	4203	6216	85604164	SO:0001583	missense	138046	exon3				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.53C>T	8.37:g.85441609C>T	ENSP00000430367:p.Ser18Phe		85604164	NM_001100392	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764374	0.89932	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.88842	2.985	0.80722	D	1	D;D;D	0.71674	0.994;0.993;0.998	D;D;D	0.76575	0.947;0.947;0.988	T	0.77534	-0.2552	10	0.87932	D	0	.	19.2791	0.94044	0.0:1.0:0.0:0.0	.	18;31;18	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	F	18;18;18;18;18;18;31;18	ENSP00000427787:S18F;ENSP00000430394:S18F;ENSP00000428667:S18F;ENSP00000430367:S18F;ENSP00000430065:S18F;ENSP00000428711:S18F;ENSP00000430128:S31F;ENSP00000429284:S18F	ENSP00000430128:S31F	S	+	2	0	RALYL	85604164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.775000	0.85489	2.630000	0.89119	0.558000	0.71614	TCC		0.383	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
LRRCC1	85444	broad.mit.edu	37	8	86035736	86035736	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:86035736G>T	ENST00000360375.3	+	7	1168	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R320I	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	340					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R340I(1)|p.R320I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TATGGAAACAGAAAAGAATGC	0.318																																					p.R340I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1019T	8						.						83.0	82.0	82.0					8																	86035736		1809	4072	5881	86222988	SO:0001583	missense	85444	exon7			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1019G>T	8.37:g.86035736G>T	ENSP00000353538:p.Arg340Ile		86222988	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.32|16.32	3.089896|3.089896	0.55968|0.55968	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375;ENST00000414626|ENST00000426019	T;T|.	0.31510|.	1.49;1.49|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.165663|.	0.28983|.	N|.	0.013506|.	T|T	0.61362|0.61362	0.2341|0.2341	L|L	0.60455|0.60455	1.87|1.87	0.41643|0.41643	D|D	0.98908|0.98908	D;D;D;D|.	0.71674|.	0.998;0.996;0.998;0.979|.	P;P;P;P|.	0.62560|.	0.904;0.875;0.904;0.504|.	T|T	0.61392|0.61392	-0.7072|-0.7072	10|5	0.40728|.	T|.	0.16|.	-17.636|-17.636	8.0298|8.0298	0.30459|0.30459	0.121:0.1454:0.7336:0.0|0.121:0.1454:0.7336:0.0	.|.	247;320;247;340|.	B4DV06;Q9C099-2;E9PE41;Q9C099|.	.;.;.;LRCC1_HUMAN|.	I|I	340;320|247	ENSP00000353538:R340I;ENSP00000394695:R320I|.	ENSP00000353538:R340I|.	R|S	+|+	2|2	0|0	LRRCC1|LRRCC1	86222988|86222988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.396000|1.396000	0.34531|0.34531	2.588000|2.588000	0.87417|0.87417	0.650000|0.650000	0.86243|0.86243	AGA|AGT		0.318	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
LRRCC1	85444	broad.mit.edu	37	8	86047104	86047104	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:86047104T>C	ENST00000360375.3	+	13	2140	c.1991T>C	c.(1990-1992)gTt>gCt	p.V664A	LRRCC1_ENST00000414626.2_Missense_Mutation_p.V644A	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	664					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V644A(1)|p.V664A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTTGAAAATGTTGCAACTGAG	0.313																																					p.V664A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1991C	8						.						62.0	59.0	60.0					8																	86047104		1810	4065	5875	86234356	SO:0001583	missense	85444	exon13			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1991T>C	8.37:g.86047104T>C	ENSP00000353538:p.Val664Ala		86234356	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735880	0.49045	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32023	1.47;1.47	5.71	5.71	0.89125	.	0.000000	0.35555	N	0.003137	T	0.27697	0.0681	L	0.55481	1.735	0.41713	D	0.989465	P;B;P;B	0.45715	0.759;0.208;0.865;0.101	B;B;B;B	0.39503	0.187;0.084;0.301;0.032	T	0.06516	-1.0822	10	0.20519	T	0.43	-11.6347	11.8388	0.52342	0.0:0.07:0.0:0.93	.	571;644;571;664	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	A	664;644	ENSP00000353538:V664A;ENSP00000394695:V644A	ENSP00000353538:V664A	V	+	2	0	LRRCC1	86234356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.724000	0.47285	2.171000	0.68590	0.533000	0.62120	GTT		0.313	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
LRRCC1	85444	broad.mit.edu	37	8	86053747	86053747	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:86053747T>G	ENST00000360375.3	+	18	3120	c.2971T>G	c.(2971-2973)Tta>Gta	p.L991V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L971V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	991					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L971V(1)|p.L991V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCTGCAAATTTAAAGGTATT	0.308																																					p.L991V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2971G	8						.						47.0	46.0	46.0					8																	86053747		1824	4083	5907	86240999	SO:0001583	missense	85444	exon18			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2971T>G	8.37:g.86053747T>G	ENSP00000353538:p.Leu991Val		86240999	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	8.794	0.931390	0.18131	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.30182	1.54;1.54	5.26	1.91	0.25777	.	1.622580	0.04368	N	0.358547	T	0.26702	0.0653	L	0.44542	1.39	0.26462	N	0.975435	B;B;B	0.29301	0.241;0.137;0.231	B;B;B	0.30495	0.116;0.058;0.048	T	0.22452	-1.0216	10	0.34782	T	0.22	1.9955	3.6447	0.08180	0.0988:0.0963:0.4918:0.3131	.	971;898;991	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	V	991;971	ENSP00000353538:L991V;ENSP00000394695:L971V	ENSP00000353538:L991V	L	+	1	2	LRRCC1	86240999	1.000000	0.71417	0.673000	0.29887	0.227000	0.25037	3.567000	0.53813	0.095000	0.17434	0.528000	0.53228	TTA		0.308	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
CA3	761	broad.mit.edu	37	8	86352106	86352106	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:86352106G>A	ENST00000285381.2	+	2	283	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	67	Involved in proton transfer.				bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.R67Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	AAGACCTGCCGAGTTGTATTT	0.413																																					p.R67Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	8						.						100.0	88.0	92.0					8																	86352106		2203	4300	6503	86539358	SO:0001583	missense	761	exon2			AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.200G>A	8.37:g.86352106G>A	ENSP00000285381:p.Arg67Gln		86539358	NM_005181	B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848026	0.32699	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.64260	-0.09	5.81	5.81	0.92471	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.137768	0.64402	D	0.000003	T	0.26629	0.0651	N	0.01505	-0.83	0.44417	D	0.99733	D	0.59357	0.985	B	0.31016	0.123	T	0.54248	-0.8322	10	0.02654	T	1	-18.954	19.0778	0.93169	0.0:0.0:1.0:0.0	.	67	P07451	CAH3_HUMAN	Q	67;51	ENSP00000285381:R67Q	ENSP00000285381:R67Q	R	+	2	0	CA3	86539358	0.998000	0.40836	0.996000	0.52242	0.838000	0.47535	4.138000	0.58017	2.741000	0.93983	0.650000	0.86243	CGA		0.413	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181	
ATP6V0D2	245972	broad.mit.edu	37	8	87155128	87155128	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87155128A>C	ENST00000285393.3	+	5	726	c.584A>C	c.(583-585)aAa>aCa	p.K195T	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	195					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.K195T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GCATTCTATAAATTCTGTAAG	0.313																																					p.K195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584C	8						.						153.0	162.0	159.0					8																	87155128		2203	4294	6497	87224244	SO:0001583	missense	245972	exon5			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.584A>C	8.37:g.87155128A>C	ENSP00000285393:p.Lys195Thr		87224244	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.499944	0.44455	.	.	ENSG00000147614	ENST00000285393	T	0.33216	1.42	5.43	2.97	0.34412	.	0.268679	0.38058	N	0.001827	T	0.34948	0.0915	M	0.78223	2.4	0.54753	D	0.999986	B	0.13594	0.008	B	0.13407	0.009	T	0.16100	-1.0414	10	0.45353	T	0.12	-10.5217	12.141	0.53998	0.7339:0.2661:0.0:0.0	.	195	Q8N8Y2	VA0D2_HUMAN	T	195	ENSP00000285393:K195T	ENSP00000285393:K195T	K	+	2	0	ATP6V0D2	87224244	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	3.411000	0.52672	0.415000	0.25817	0.533000	0.62120	AAA		0.313	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
ATP6V0D2	245972	broad.mit.edu	37	8	87162479	87162479	+	Missense_Mutation	SNP	G	G	T	rs374663729		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87162479G>T	ENST00000285393.3	+	6	920	c.778G>T	c.(778-780)Gac>Tac	p.D260Y	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	260					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.D260Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCAAGCAGAAGACTTTGACCA	0.473																																					p.D260Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778T	8						.						114.0	102.0	106.0					8																	87162479		2203	4300	6503	87231595	SO:0001583	missense	245972	exon6			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.778G>T	8.37:g.87162479G>T	ENSP00000285393:p.Asp260Tyr		87231595	NM_152565		Missense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212351	0.95069	.	.	ENSG00000147614	ENST00000285393	T	0.39229	1.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83539	0.0095	10	0.87932	D	0	-18.3267	19.8676	0.96824	0.0:0.0:1.0:0.0	.	260	Q8N8Y2	VA0D2_HUMAN	Y	260	ENSP00000285393:D260Y	ENSP00000285393:D260Y	D	+	1	0	ATP6V0D2	87231595	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.771000	0.98977	2.941000	0.99782	0.655000	0.94253	GAC		0.473	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
WWP1	11059	broad.mit.edu	37	8	87437508	87437508	+	Missense_Mutation	SNP	G	G	A	rs267602027		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87437508G>A	ENST00000517970.1	+	10	1425	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	WWP1_ENST00000349423.2_Missense_Mutation_p.R155Q|WWP1_ENST00000265428.4_Missense_Mutation_p.R373Q|WWP1_ENST00000341922.2_Missense_Mutation_p.R243Q	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	373	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R373Q(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CATAATACTCGAACTACCACA	0.333																																					p.R373Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118A	8						.						114.0	96.0	102.0					8																	87437508		2203	4299	6502	87506624	SO:0001583	missense	11059	exon10			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1118G>A	8.37:g.87437508G>A	ENSP00000427793:p.Arg373Gln		87506624	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671954	0.67928	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.22	5.22	0.72569	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	L	0.60957	1.885	0.58432	D	0.999998	B;B	0.32604	0.024;0.377	B;B	0.28385	0.049;0.089	T	0.81172	-0.1054	10	0.52906	T	0.07	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	155;373	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	Q	373;373;243;155	ENSP00000427793:R373Q;ENSP00000265428:R373Q;ENSP00000340564:R243Q;ENSP00000342665:R155Q	ENSP00000265428:R373Q	R	+	2	0	WWP1	87506624	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.765000	0.68834	2.431000	0.82371	0.655000	0.94253	CGA		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
WWP1	11059	broad.mit.edu	37	8	87450854	87450854	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87450854A>G	ENST00000517970.1	+	17	2097	c.1790A>G	c.(1789-1791)tAt>tGt	p.Y597C	WWP1_ENST00000349423.2_Missense_Mutation_p.Y379C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y597C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y467C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	597	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Y597C(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGGCGCTTATATGTAATATTT	0.318																																					p.Y597C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1790G	8						.						77.0	80.0	79.0					8																	87450854		2203	4300	6503	87519970	SO:0001583	missense	11059	exon17			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1790A>G	8.37:g.87450854A>G	ENSP00000427793:p.Tyr597Cys		87519970	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.072802|4.072802	0.76415|0.76415	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000520453|ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.|T;T;T;T	.|0.76316	.|-1.01;-1.01;-1.01;-1.01	5.0|5.0	5.0|5.0	0.66597|0.66597	.|HECT (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87059|0.87059	0.6083|0.6083	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.66497	.|0.944;0.91	D|D	0.89023|0.89023	0.3436|0.3436	5|10	.|0.87932	.|D	.|0	.|.	14.9977|14.9977	0.71446|0.71446	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|379;597	.|Q9H0M0-6;Q9H0M0	.|.;WWP1_HUMAN	M|C	61|597;597;467;379	.|ENSP00000427793:Y597C;ENSP00000265428:Y597C;ENSP00000340564:Y467C;ENSP00000342665:Y379C	.|ENSP00000265428:Y597C	I|Y	+|+	3|2	3|0	WWP1|WWP1	87519970|87519970	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.915000|5.915000	0.69973|0.69973	1.993000|1.993000	0.58246|0.58246	0.528000|0.528000	0.53228|0.53228	ATA|TAT		0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
WWP1	11059	broad.mit.edu	37	8	87454945	87454945	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87454945G>A	ENST00000517970.1	+	18	2243	c.1936G>A	c.(1936-1938)Gca>Aca	p.A646T	WWP1_ENST00000349423.2_Missense_Mutation_p.A428T|WWP1_ENST00000265428.4_Missense_Mutation_p.A646T|WWP1_ENST00000341922.2_Missense_Mutation_p.A516T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	646	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A646T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GATAAATCCAGCATCAACCAT	0.343																																					p.A646T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936A	8						.						134.0	121.0	125.0					8																	87454945		2203	4300	6503	87524061	SO:0001583	missense	11059	exon18			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1936G>A	8.37:g.87454945G>A	ENSP00000427793:p.Ala646Thr		87524061	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.049454|5.049454	0.93740|0.93740	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.57595|.	0.39;0.39;0.39;0.39|.	5.4|5.4	5.4|5.4	0.78164|0.78164	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65606|0.65606	0.2707|0.2707	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.79108|.	0.956;0.992|.	T|T	0.60934|0.60934	-0.7164|-0.7164	10|5	0.34782|.	T|.	0.22|.	.|.	19.1599|19.1599	0.93526|0.93526	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	428;646|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	T|N	646;646;516;428|146	ENSP00000427793:A646T;ENSP00000265428:A646T;ENSP00000340564:A516T;ENSP00000342665:A428T|.	ENSP00000265428:A646T|.	A|S	+|+	1|2	0|0	WWP1|WWP1	87524061|87524061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.813000|9.813000	0.99286|0.99286	2.506000|2.506000	0.84524|0.84524	0.585000|0.585000	0.79938|0.79938	GCA|AGC		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
CPNE3	8895	broad.mit.edu	37	8	87544749	87544749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87544749G>T	ENST00000521271.1	+	6	562	c.400G>T	c.(400-402)Gaa>Taa	p.E134*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.E134*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	134	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.E134*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCAGCTGAAGAAATAAAAGA	0.313																																					p.E134X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G400T	8						.						104.0	116.0	112.0					8																	87544749		2203	4297	6500	87613865	SO:0001587	stop_gained	8895	exon6			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.400G>T	8.37:g.87544749G>T	ENSP00000430934:p.Glu134*		87613865	NM_003909	A8KA47|Q8IYA1	Nonsense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.051278|5.051278	0.93740|0.93740	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072;ENST00000523001;ENST00000517771;ENST00000523469|ENST00000517391	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79563	.|0.4467	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77838	.|-0.2439	.|3	0.87932|.	D|.	0|.	-7.43|-7.43	19.604|19.604	0.95574|0.95574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	134|50	.|.	ENSP00000198765:E134X|.	E|K	+|+	1|3	0|2	CPNE3|CPNE3	87613865|87613865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.827000|9.827000	0.99397|0.99397	2.642000|2.642000	0.89623|0.89623	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.313	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1		
CPNE3	8895	broad.mit.edu	37	8	87567145	87567145	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87567145A>C	ENST00000521271.1	+	15	1349	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	CPNE3_ENST00000198765.4_Missense_Mutation_p.N396T	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	396	VWFA.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.N396T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGACCAACTAATTTTTCTCCA	0.428																																					p.N396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1187C	8						.						148.0	139.0	142.0					8																	87567145		2203	4300	6503	87636261	SO:0001583	missense	8895	exon15			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1187A>C	8.37:g.87567145A>C	ENSP00000430934:p.Asn396Thr		87636261	NM_003909	A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	A	31	5.100294	0.94245	.	.	ENSG00000085719	ENST00000198765;ENST00000521271	T;T	0.26223	1.75;1.75	5.96	5.96	0.96718	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.87932	D	0	-11.6927	16.4338	0.83864	1.0:0.0:0.0:0.0	.	396	O75131	CPNE3_HUMAN	T	396	ENSP00000198765:N396T;ENSP00000430934:N396T	ENSP00000198765:N396T	N	+	2	0	CPNE3	87636261	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.335000	0.96500	2.270000	0.75569	0.533000	0.62120	AAT		0.428	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1		
CNGB3	54714	broad.mit.edu	37	8	87591386	87591386	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87591386C>T	ENST00000320005.5	-	16	1923	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	626					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E626K(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACTAGAATTTCTTGGAGGGTC	0.438																																					p.E626K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1876A	8						.						131.0	141.0	138.0					8																	87591386		2203	4300	6503	87660502	SO:0001583	missense	54714	exon16			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1876G>A	8.37:g.87591386C>T	ENSP00000316605:p.Glu626Lys		87660502	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443993	0.63067	.	.	ENSG00000170289	ENST00000517327;ENST00000320005	D;D	0.96830	-1.69;-4.14	5.71	0.609	0.17575	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.406199	0.24764	N	0.035781	D	0.92580	0.7643	L	0.28608	0.87	0.46927	D	0.999253	B;B	0.26902	0.135;0.163	B;B	0.40477	0.222;0.33	D	0.84495	0.0613	10	0.66056	D	0.02	.	3.291	0.06949	0.1294:0.5624:0.1118:0.1963	.	621;626	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	K	17;626	ENSP00000428329:E17K;ENSP00000316605:E626K	ENSP00000316605:E626K	E	-	1	0	CNGB3	87660502	0.985000	0.35326	0.643000	0.29450	0.846000	0.48090	2.700000	0.47085	-0.168000	0.10853	0.563000	0.77884	GAA		0.438	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNGB3	54714	broad.mit.edu	37	8	87656094	87656094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87656094G>A	ENST00000320005.5	-	10	1110	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	355					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R355*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGTTGTTCGAATAACTCTG	0.363																																					p.R355X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1063T	8	GRCh37	CM050554	CNGB3	M		.						106.0	101.0	103.0					8																	87656094		2203	4300	6503	87725210	SO:0001587	stop_gained	54714	exon10			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1063C>T	8.37:g.87656094G>A	ENSP00000316605:p.Arg355*		87725210	NM_019098	C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118747	0.97300	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6384	0.95746	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000316605:R355X	R	-	1	2	CNGB3	87725210	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.381000	0.79718	2.703000	0.92315	0.655000	0.94253	CGA		0.363	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNGB3	54714	broad.mit.edu	37	8	87666269	87666269	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87666269T>A	ENST00000320005.5	-	7	921	c.874A>T	c.(874-876)Aaa>Taa	p.K292*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	292					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.K292*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGTAGTGTTTCCTTAGCTCA	0.289																																					p.K292X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A874T	8						.						141.0	140.0	141.0					8																	87666269		2202	4299	6501	87735385	SO:0001587	stop_gained	54714	exon7			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.874A>T	8.37:g.87666269T>A	ENSP00000316605:p.Lys292*		87735385	NM_019098	C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	T	34	5.296962	0.95574	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.27	3.9	0.45041	.	0.569470	0.17805	N	0.161409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0734	0.30701	0.0:0.1745:0.0:0.8255	.	.	.	.	X	292	.	ENSP00000316605:K292X	K	-	1	0	CNGB3	87735385	1.000000	0.71417	0.958000	0.39756	0.741000	0.42261	1.891000	0.39738	1.989000	0.58080	0.454000	0.30748	AAA		0.289	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNGB3	54714	broad.mit.edu	37	8	87683200	87683200	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:87683200G>T	ENST00000320005.5	-	4	512	c.465C>A	c.(463-465)ctC>ctA	p.L155L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	155					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.L155L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CGGGTGAGGAGAGATCTCCCT	0.478																																					p.L155L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C465A	8						.						207.0	207.0	207.0					8																	87683200		2203	4300	6503	87752316	SO:0001819	synonymous_variant	54714	exon4			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.465C>A	8.37:g.87683200G>T			87752316	NM_019098	C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	CCDS6244.1																																																																																				0.478	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
CNBD1	168975	broad.mit.edu	37	8	88365983	88365983	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:88365983G>A	ENST00000518476.1	+	10	1323	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	424								p.E424E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGAAGTTGAGATGGCAATCA	0.318																																					p.E424E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1272A	8						.						87.0	85.0	85.0					8																	88365983		1840	4083	5923	88435099	SO:0001819	synonymous_variant	168975	exon10			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1272G>A	8.37:g.88365983G>A			88435099	NM_173538		Silent	SNP	ENST00000518476.1	37	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.348264	0.01266	.	.	ENSG00000176571	ENST00000523299;ENST00000521593	.	.	.	4.98	0.207	0.15214	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.37203	D	0.904456	.	.	.	.	.	.	T	0.44329	-0.9335	4	.	.	.	-21.5028	6.4362	0.21825	0.5859:0.0:0.4141:0.0	.	.	.	.	K	116;61	.	.	R	+	2	0	CNBD1	88435099	0.432000	0.25554	0.455000	0.27031	0.012000	0.07955	0.211000	0.17474	0.117000	0.18138	-0.377000	0.06932	AGA		0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
DCAF4L2	138009	broad.mit.edu	37	8	88885451	88885451	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:88885451C>T	ENST00000319675.3	-	1	845	c.749G>A	c.(748-750)gGc>gAc	p.G250D		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	250								p.G250D(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGATCAATGCCAAAGATCTC	0.512																																					p.G250D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	8						.						122.0	116.0	118.0					8																	88885451		2203	4300	6503	88954567	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.749G>A	8.37:g.88885451C>T	ENSP00000316496:p.Gly250Asp		88954567	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534616	0.27475	.	.	ENSG00000176566	ENST00000319675	T	0.70516	-0.49	1.74	0.759	0.18438	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.450948	0.28219	N	0.016145	T	0.51193	0.1660	N	0.14661	0.345	0.22581	N	0.998966	B	0.33512	0.415	B	0.38264	0.269	T	0.42378	-0.9455	10	0.34782	T	0.22	.	7.6675	0.28439	0.0:0.283:0.7169:0.0	.	250	Q8NA75	DC4L2_HUMAN	D	250	ENSP00000316496:G250D	ENSP00000316496:G250D	G	-	2	0	DCAF4L2	88954567	1.000000	0.71417	0.126000	0.21872	0.252000	0.25951	1.814000	0.38972	-0.353000	0.08224	-0.499000	0.04595	GGC		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
DCAF4L2	138009	broad.mit.edu	37	8	88885807	88885807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:88885807G>T	ENST00000319675.3	-	1	489	c.393C>A	c.(391-393)tgC>tgA	p.C131*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	131								p.C131*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GTGAGGCCCAGCACATAGAAT	0.562																																					p.C131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C393A	8						.						110.0	103.0	106.0					8																	88885807		2203	4300	6503	88954923	SO:0001587	stop_gained	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.393C>A	8.37:g.88885807G>T	ENSP00000316496:p.Cys131*		88954923	NM_152418		Nonsense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295015	0.60086	.	.	ENSG00000176566	ENST00000319675	.	.	.	1.39	1.39	0.22231	.	0.040960	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7882	0.13236	0.0:0.0:0.6372:0.3628	.	.	.	.	X	131	.	ENSP00000316496:C131X	C	-	3	2	DCAF4L2	88954923	1.000000	0.71417	0.007000	0.13788	0.025000	0.11179	3.747000	0.55134	0.750000	0.32877	0.467000	0.42956	TGC		0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522																																					p.F39F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C117T	8						.						90.0	81.0	84.0					8																	88886083		2203	4300	6503	88955199	SO:0001819	synonymous_variant	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.117C>T	8.37:g.88886083G>A			88955199	NM_152418		Silent	SNP	ENST00000319675.3	37	CCDS6245.1																																																																																				0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
MMP16	4325	broad.mit.edu	37	8	89128907	89128907	+	Silent	SNP	C	C	T	rs149503873	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:89128907C>T	ENST00000286614.6	-	6	1193	c.912G>A	c.(910-912)ccG>ccA	p.P304P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	304					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P304P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGGGCACTGTCGGTAGAGGTC	0.522													C|||	4	0.000798722	0.003	0.0	5008	,	,		15464	0.0		0.0	False		,,,				2504	0.0				p.P304P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G912A	8						.	C		7,4399	12.9+/-30.5	0,7,2196	200.0	207.0	204.0		912	-6.8	0.4	8	dbSNP_134	204	0,8600		0,0,4300	no	coding-synonymous	MMP16	NM_005941.4		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		304/608	89128907	7,12999	2203	4300	6503	89198023	SO:0001819	synonymous_variant	4325	exon6			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.912G>A	8.37:g.89128907C>T			89198023	NM_005941	B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	CCDS6246.1																																																																																				0.522	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
NBN	4683	broad.mit.edu	37	8	90958376	90958376	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:90958376A>C	ENST00000265433.3	-	13	2216	c.2062T>G	c.(2062-2064)Ttc>Gtc	p.F688V	NBN_ENST00000409330.1_Missense_Mutation_p.F606V	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	688					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.F688V(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ACCTTTTTGAATTTCTTGAAA	0.308								Homologous recombination																													p.F688V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2062G	8						.						89.0	90.0	90.0					8																	90958376		2202	4298	6500	91027552	SO:0001583	missense	4683	exon13			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2062T>G	8.37:g.90958376A>C	ENSP00000265433:p.Phe688Val		91027552	NM_002485	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474528	0.84640	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	D;D	0.85861	-1.87;-2.04	5.65	5.65	0.86999	DNA repair Nbs1, C-terminal (1);	0.051901	0.85682	D	0.000000	D	0.91717	0.7381	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92571	0.6066	10	0.87932	D	0	-13.4292	15.8597	0.79012	1.0:0.0:0.0:0.0	.	688;688	A6H8Y5;O60934	.;NBN_HUMAN	V	688;606	ENSP00000265433:F688V;ENSP00000386924:F606V	ENSP00000265433:F688V	F	-	1	0	NBN	91027552	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.488000	0.60300	2.281000	0.76405	0.528000	0.53228	TTC		0.308	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
DECR1	1666	broad.mit.edu	37	8	91063963	91063963	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:91063963G>T	ENST00000220764.2	+	9	1032	c.944G>T	c.(943-945)aGa>aTa	p.R315I	DECR1_ENST00000522161.1_Missense_Mutation_p.R306I	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	315					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.R315I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AACGACCTGAGAAAGGTAATG	0.318																																					p.R315I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G944T	8						.						87.0	91.0	90.0					8																	91063963		2203	4300	6503	91133139	SO:0001583	missense	1666	exon9			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.944G>T	8.37:g.91063963G>T	ENSP00000220764:p.Arg315Ile		91133139	NM_001359	B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	ENST00000220764.2	37	CCDS6250.1	.	.	.	.	.	.	.	.	.	.	G	9.074	0.997636	0.19043	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	D;D	0.84873	-1.78;-1.91	5.88	1.92	0.25849	.	0.485095	0.23440	N	0.048144	T	0.78910	0.4358	L	0.56769	1.78	0.09310	N	0.999996	B;B	0.20164	0.016;0.042	B;B	0.14578	0.003;0.011	T	0.67469	-0.5663	10	0.44086	T	0.13	.	6.5131	0.22232	0.37:0.1306:0.4994:0.0	.	306;315	B7Z6B8;Q16698	.;DECR_HUMAN	I	315;306	ENSP00000220764:R315I;ENSP00000429779:R306I	ENSP00000220764:R315I	R	+	2	0	DECR1	91133139	0.000000	0.05858	0.347000	0.25668	0.247000	0.25773	-0.219000	0.09228	0.511000	0.28236	0.655000	0.94253	AGA		0.318	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		
OTUD6B	51633	broad.mit.edu	37	8	92083455	92083455	+	Nonsense_Mutation	SNP	G	G	T	rs554642481		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:92083455G>T	ENST00000285420.4	+	2	361	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	58							cysteine-type peptidase activity (GO:0008234)	p.E88*(1)|p.E58*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GTTGGAAAAAGAAATGGAACA	0.413																																					p.E88X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G262T	8						.						137.0	132.0	134.0					8																	92083455		2203	4300	6503	92152631	SO:0001587	stop_gained	51633	exon2				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.262G>T	8.37:g.92083455G>T	ENSP00000285420:p.Glu88*		92152631	NM_016023	A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	ENST00000285420.4	37	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222704	0.79464	.	.	ENSG00000155100	ENST00000285420	.	.	.	5.73	5.73	0.89815	.	0.140945	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.9081	19.9031	0.96996	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000285420:E88X	E	+	1	0	OTUD6B	92152631	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.055000	0.93873	2.710000	0.92621	0.561000	0.74099	GAA		0.413	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023	
RUNX1T1	862	broad.mit.edu	37	8	93017487	93017487	+	Silent	SNP	G	G	A	rs138740592	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:93017487G>A	ENST00000523629.1	-	6	1051	c.597C>T	c.(595-597)tgC>tgT	p.C199C	RUNX1T1_ENST00000518844.1_Silent_p.C172C|RUNX1T1_ENST00000521553.1_Silent_p.C162C|RUNX1T1_ENST00000422361.2_Silent_p.C162C|RUNX1T1_ENST00000396218.1_Silent_p.C172C|RUNX1T1_ENST00000265814.3_Silent_p.C199C|RUNX1T1_ENST00000360348.2_Silent_p.C162C|RUNX1T1_ENST00000436581.2_Silent_p.C210C|RUNX1T1_ENST00000520724.1_Silent_p.C162C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	199	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C199C(1)|p.C162C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCAGTCTTGCGCAGTGGAGGA	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20140	0.001		0.0	False		,,,				2504	0.001				p.C199C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C597T	8						.	G	,,,,,,,,,,,,,,	0,4406		0,0,2203	133.0	105.0	115.0		516,597,597,597,597,597,597,516,537,630,774,516,597,486,486	-2.7	1.0	8	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RUNX1T1	NM_001198625.1,NM_001198626.1,NM_001198627.1,NM_001198628.1,NM_001198629.1,NM_001198630.1,NM_001198631.1,NM_001198632.1,NM_001198633.1,NM_001198634.1,NM_001198679.1,NM_004349.3,NM_175634.2,NM_175635.2,NM_175636.2	,,,,,,,,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,,,,,	172/578,199/605,199/605,199/605,199/605,199/605,199/605,172/578,179/585,210/616,258/664,172/578,199/605,162/568,162/568	93017487	2,13004	2203	4300	6503	93086663	SO:0001819	synonymous_variant	862	exon7			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.597C>T	8.37:g.93017487G>A			93086663	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.562	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RUNX1T1	862	broad.mit.edu	37	8	93023241	93023241	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:93023241G>T	ENST00000523629.1	-	5	1001	c.547C>A	c.(547-549)Cca>Aca	p.P183T	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156T|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146T|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	183	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P146T(1)|p.P183T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCAAAAATGGGATGACAAAA	0.358																																					p.P183T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C547A	8						.						140.0	134.0	136.0					8																	93023241		2203	4300	6503	93092417	SO:0001583	missense	862	exon6			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.547C>A	8.37:g.93023241G>T	ENSP00000428543:p.Pro183Thr		93092417	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052617	0.93793	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.87	5.87	0.94306	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	T	0.80137	-0.1508	10	0.87932	D	0	-11.0118	20.5827	0.99408	0.0:0.0:1.0:0.0	.	194;194;156;183;156	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	T	183;156;183;146;146;146;194;156;146;183;146	ENSP00000428543:P183T;ENSP00000379520:P156T;ENSP00000265814:P183T;ENSP00000353504:P146T;ENSP00000390137:P146T;ENSP00000428742:P146T;ENSP00000402257:P194T;ENSP00000430728:P156T;ENSP00000429728:P146T;ENSP00000431094:P183T;ENSP00000427763:P146T	ENSP00000265814:P183T	P	-	1	0	RUNX1T1	93092417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCA		0.358	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
FAM92A1	137392	broad.mit.edu	37	8	94713527	94713527	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:94713527C>T	ENST00000518322.1	+	2	243	c.102C>T	c.(100-102)ttC>ttT	p.F34F	LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000522324.1_Silent_p.F34F|FAM92A1_ENST00000423990.2_Silent_p.F34F	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	34								p.F34F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCCAAATCTTCGCTGCCTATG	0.478																																					p.F34F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	8						.						63.0	60.0	61.0					8																	94713527		1910	4123	6033	94782703	SO:0001819	synonymous_variant	137392	exon2				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.102C>T	8.37:g.94713527C>T			94782703	NM_145269	A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Silent	SNP	ENST00000518322.1	37	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528149	0.27299	.	.	ENSG00000188343	ENST00000523453	.	.	.	4.38	0.61	0.17580	.	.	.	.	.	T	0.54967	0.1891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	-7.0555	8.1902	0.31363	0.0:0.3906:0.0:0.6094	.	.	.	.	C	45	.	.	R	+	1	0	FAM92A1	94782703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.706000	0.25690	0.260000	0.21731	-0.345000	0.07892	CGC		0.478	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269	
RBM12B	389677	broad.mit.edu	37	8	94745658	94745658	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:94745658C>T	ENST00000399300.2	-	3	3194	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q	RBM12B_ENST00000517700.1_Missense_Mutation_p.R874Q|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	994	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R994Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTAACTTTTCGGGGCCCAAC	0.368																																					p.R994Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2981A	8						.						40.0	38.0	39.0					8																	94745658		1811	4084	5895	94814834	SO:0001583	missense	389677	exon3				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2981G>A	8.37:g.94745658C>T	ENSP00000382239:p.Arg994Gln		94814834	NM_203390	A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789441	0.90367	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.12465	2.68;2.68	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.673599	0.14098	N	0.341596	T	0.52322	0.1727	M	0.93197	3.39	0.38248	D	0.941511	D	0.89917	1.0	D	0.91635	0.999	T	0.65207	-0.6224	10	0.87932	D	0	-0.5895	19.2621	0.93971	0.0:1.0:0.0:0.0	.	994	Q8IXT5	RB12B_HUMAN	Q	994;874	ENSP00000382239:R994Q;ENSP00000427729:R874Q	ENSP00000382239:R994Q	R	-	2	0	RBM12B	94814834	1.000000	0.71417	0.988000	0.46212	0.811000	0.45836	7.487000	0.81328	2.555000	0.86185	0.563000	0.77884	CGA		0.368	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
PDP1	54704	broad.mit.edu	37	8	94935822	94935822	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:94935822G>A	ENST00000297598.4	+	2	1804	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDP1_ENST00000520728.1_Missense_Mutation_p.R512Q|PDP1_ENST00000396200.3_Missense_Mutation_p.R537Q|PDP1_ENST00000517764.1_Missense_Mutation_p.R512Q	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	512					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R512Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GAGCTTGCTCGAATGTACAGA	0.453																																					p.R537Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1610A	8						.						103.0	94.0	97.0					8																	94935822		2203	4300	6503	95004998	SO:0001583	missense	54704	exon3			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1535G>A	8.37:g.94935822G>A	ENSP00000297598:p.Arg512Gln		95004998	NM_001161779	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462699	0.84425	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	6.17	6.17	0.99709	Protein phosphatase 2C-like (4);	0.058646	0.64402	D	0.000002	T	0.41143	0.1146	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.14364	-1.0475	10	0.87932	D	0	-7.9484	20.8794	0.99867	0.0:0.0:1.0:0.0	.	563;512	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Q	512;512;537;512	ENSP00000297598:R512Q;ENSP00000428317:R512Q;ENSP00000379503:R537Q;ENSP00000430380:R512Q	ENSP00000297598:R512Q	R	+	2	0	PDP1	95004998	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CGA		0.453	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444	
RAD54B	25788	broad.mit.edu	37	8	95404039	95404039	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95404039T>G	ENST00000336148.5	-	10	1731	c.1607A>C	c.(1606-1608)aAt>aCt	p.N536T		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	536					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.N536T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAGATATTTATTTATAATTTC	0.383								Direct reversal of damage;Homologous recombination																													p.N536T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1607C	8						.						99.0	111.0	107.0					8																	95404039		2203	4300	6503	95473215	SO:0001583	missense	25788	exon10			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1607A>C	8.37:g.95404039T>G	ENSP00000336606:p.Asn536Thr		95473215	NM_012415	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314498	0.60524	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.92699	-3.09	4.89	4.89	0.63831	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	N	0.12502	0.225	0.80722	D	1	B	0.32283	0.362	B	0.32980	0.156	T	0.81272	-0.1008	10	0.13853	T	0.58	-3.4213	14.8183	0.70052	0.0:0.0:0.0:1.0	.	536	Q9Y620	RA54B_HUMAN	T	536;208	ENSP00000336606:N536T	ENSP00000336606:N536T	N	-	2	0	RAD54B	95473215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	1.947000	0.56498	0.528000	0.53228	AAT		0.383	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
RAD54B	25788	broad.mit.edu	37	8	95412519	95412519	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95412519C>A	ENST00000336148.5	-	7	1241	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	373	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.E373*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTTGAAATTCTTTCTTCCAA	0.373								Direct reversal of damage;Homologous recombination																													p.E373X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1117T	8						.						88.0	86.0	87.0					8																	95412519		2203	4300	6503	95481695	SO:0001587	stop_gained	25788	exon7			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1117G>T	8.37:g.95412519C>A	ENSP00000336606:p.Glu373*		95481695	NM_012415	F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	39	7.760634	0.98474	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.6825	19.4213	0.94723	0.0:1.0:0.0:0.0	.	.	.	.	X	373;46	.	ENSP00000336606:E373X	E	-	1	0	RAD54B	95481695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.589000	0.87451	0.655000	0.94253	GAA		0.373	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
KIAA1429	25962	broad.mit.edu	37	8	95522038	95522038	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95522038C>T	ENST00000297591.5	-	15	3832	c.3757G>A	c.(3757-3759)Gat>Aat	p.D1253N	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D1253N|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1253					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D1253N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TATCTTTCATCACCTTTAATA	0.403																																					p.D1253N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3757A	8						.						97.0	95.0	96.0					8																	95522038		2203	4300	6503	95591214	SO:0001583	missense	25962	exon15			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3757G>A	8.37:g.95522038C>T	ENSP00000297591:p.Asp1253Asn		95591214	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245207	0.80024	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.69685	0.12;-0.42	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81133	0.4759	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.80327	-0.1429	10	0.54805	T	0.06	-19.4204	20.1006	0.97874	0.0:1.0:0.0:0.0	.	1253	Q69YN4	VIR_HUMAN	N	1253	ENSP00000297591:D1253N;ENSP00000395600:D1253N	ENSP00000297591:D1253N	D	-	1	0	KIAA1429	95591214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.513000	0.73742	2.757000	0.94681	0.561000	0.74099	GAT		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
KIAA1429	25962	broad.mit.edu	37	8	95522784	95522784	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95522784G>A	ENST00000297591.5	-	14	3562	c.3487C>T	c.(3487-3489)Cgc>Tgc	p.R1163C	KIAA1429_ENST00000437199.1_Missense_Mutation_p.R1163C|KIAA1429_ENST00000523405.1_Intron	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1163					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1163C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAGAAAGAGCGAACTATTTCT	0.443																																					p.R1163C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3487T	8						.						149.0	130.0	136.0					8																	95522784		2203	4300	6503	95591960	SO:0001583	missense	25962	exon14			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3487C>T	8.37:g.95522784G>A	ENSP00000297591:p.Arg1163Cys		95591960	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477622	0.63849	.	.	ENSG00000164944	ENST00000297591;ENST00000437199	T;T	0.67698	-0.28;-0.28	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80939	-0.1158	10	0.66056	D	0.02	-8.3847	19.9405	0.97159	0.0:0.0:1.0:0.0	.	1163	Q69YN4	VIR_HUMAN	C	1163	ENSP00000297591:R1163C;ENSP00000395600:R1163C	ENSP00000297591:R1163C	R	-	1	0	KIAA1429	95591960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.820000	0.62671	2.716000	0.92895	0.650000	0.86243	CGC		0.443	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
KIAA1429	25962	broad.mit.edu	37	8	95523508	95523508	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95523508G>T	ENST00000297591.5	-	13	3370	c.3295C>A	c.(3295-3297)Ctt>Att	p.L1099I	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1099I|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L1099I|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1099					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L1099I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATTGAAGAAAGAACTTCTTTT	0.373																																					p.L1099I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3295A	8						.						48.0	50.0	49.0					8																	95523508		2203	4300	6503	95592684	SO:0001583	missense	25962	exon13			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3295C>A	8.37:g.95523508G>T	ENSP00000297591:p.Leu1099Ile		95592684	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837088	0.50951	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.51574	0.7;0.72;0.71	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.48986	1.54	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.65372	-0.6184	10	0.66056	D	0.02	-12.689	20.327	0.98704	0.0:0.0:1.0:0.0	.	1099;1099	Q69YN4-4;Q69YN4	.;VIR_HUMAN	I	1099	ENSP00000297591:L1099I;ENSP00000395600:L1099I;ENSP00000398390:L1099I	ENSP00000297591:L1099I	L	-	1	0	KIAA1429	95592684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.794000	0.96219	0.650000	0.86243	CTT		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
KIAA1429	25962	broad.mit.edu	37	8	95539112	95539112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95539112G>A	ENST00000297591.5	-	8	1435	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.R454*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.R454*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	454					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R454*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGAGCTGTCGAACATTTAAG	0.458																																					p.R454X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1360T	8						.						110.0	104.0	106.0					8																	95539112		2203	4300	6503	95608288	SO:0001587	stop_gained	25962	exon8			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1360C>T	8.37:g.95539112G>A	ENSP00000297591:p.Arg454*		95608288	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Nonsense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	38	6.688451	0.97764	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.85	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6099	15.3522	0.74399	0.0:0.0:0.6376:0.3624	.	.	.	.	X	454	.	ENSP00000297591:R454X	R	-	1	2	KIAA1429	95608288	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.938000	0.48987	0.777000	0.33496	0.563000	0.77884	CGA		0.458	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
ESRP1	54845	broad.mit.edu	37	8	95704959	95704959	+	Silent	SNP	C	C	T	rs369829287	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95704959C>T	ENST00000433389.2	+	14	2065	c.1875C>T	c.(1873-1875)agC>agT	p.S625S	ESRP1_ENST00000423620.2_Silent_p.S621S|ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000358397.5_Silent_p.S621S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	625					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.S625S(2)|p.S621S(1)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTAATCTTAGCGGTGTCCCTC	0.493													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19022	0.0		0.0	False		,,,				2504	0.0				p.S625S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1875T	8						.	C	,,,,	1,3823		0,1,1911	92.0	88.0	90.0		1863,,1863,,1875	5.2	1.0	8		90	0,8216		0,0,4108	no	coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	ESRP1	NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3	,,,,	0,1,6019	TT,TC,CC		0.0,0.0262,0.0083	,,,,	621/678,,621/660,,625/682	95704959	1,12039	1912	4108	6020	95774135	SO:0001819	synonymous_variant	54845	exon14			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1875C>T	8.37:g.95704959C>T			95774135	NM_017697	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	CCDS47897.1																																																																																				0.493	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697	
DPY19L4	286148	broad.mit.edu	37	8	95796020	95796020	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95796020G>T	ENST00000414645.2	+	17	1937	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	613						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R613I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CTTCTCAAGAGAAATGAAAAT	0.368																																					p.R613I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1838T	8						.						90.0	83.0	86.0					8																	95796020		2203	4300	6503	95865196	SO:0001583	missense	286148	exon17				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1838G>T	8.37:g.95796020G>T	ENSP00000389630:p.Arg613Ile		95865196	NM_181787	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611000	0.87258	.	.	ENSG00000156162	ENST00000414645	T	0.77620	-1.11	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.88145	0.6358	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89565	0.3809	10	0.87932	D	0	-17.5205	18.5125	0.90921	0.0:0.0:1.0:0.0	.	613	Q7Z388	D19L4_HUMAN	I	613	ENSP00000389630:R613I	ENSP00000389630:R613I	R	+	2	0	DPY19L4	95865196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.417000	0.90247	2.454000	0.82982	0.650000	0.86243	AGA		0.368	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	
INTS8	55656	broad.mit.edu	37	8	95844297	95844297	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95844297G>A	ENST00000523731.1	+	6	781	c.648G>A	c.(646-648)acG>acA	p.T216T	INTS8_ENST00000447247.1_Silent_p.T216T	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	216					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.T216T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATGTCCATACGATGAGAACTC	0.373																																					p.T216T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	8						.						72.0	71.0	71.0					8																	95844297		2203	4300	6503	95913473	SO:0001819	synonymous_variant	55656	exon6			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.648G>A	8.37:g.95844297G>A			95913473	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	G	7.674	0.687559	0.14973	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.3	-10.6	0.00265	.	.	.	.	.	T	0.42765	0.1217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53507	-0.8429	4	.	.	.	-32.0142	6.5836	0.22609	0.135:0.2401:0.5147:0.1103	.	.	.	.	Q	38	.	.	R	+	2	0	INTS8	95913473	0.000000	0.05858	0.330000	0.25442	0.964000	0.63967	-4.468000	0.00229	-2.927000	0.00302	-0.982000	0.02568	CGA		0.373	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
INTS8	55656	broad.mit.edu	37	8	95848808	95848808	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95848808C>A	ENST00000523731.1	+	7	943	c.810C>A	c.(808-810)gtC>gtA	p.V270V	INTS8_ENST00000447247.1_Silent_p.V270V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	270					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.V270V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTCAGCTGTCTATGAAAATG	0.358																																					p.V270V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810A	8						.						90.0	91.0	91.0					8																	95848808		2203	4300	6503	95917984	SO:0001819	synonymous_variant	55656	exon7			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.810C>A	8.37:g.95848808C>A			95917984	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Silent	SNP	ENST00000523731.1	37	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	7.877	0.729462	0.15507	.	.	ENSG00000164941	ENST00000520526	.	.	.	5.76	1.81	0.25067	.	.	.	.	.	T	0.42494	0.1205	.	.	.	0.49130	D	0.999753	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	-32.7043	1.2691	0.02017	0.1429:0.3401:0.1388:0.3783	.	.	.	.	Y	92	.	.	S	+	2	0	INTS8	95917984	0.128000	0.22383	0.759000	0.31340	0.989000	0.77384	0.413000	0.21148	0.379000	0.24794	-0.350000	0.07774	TCT		0.358	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
CCNE2	9134	broad.mit.edu	37	8	95895114	95895114	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:95895114C>A	ENST00000520509.1	-	10	1090	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	CCNE2_ENST00000396133.3_Missense_Mutation_p.D280Y|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000308108.4_Missense_Mutation_p.D280Y			O96020	CCNE2_HUMAN	cyclin E2	280					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.D280Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATACACAGATCTAAAAGCTAA	0.373																																					p.D280Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838T	8						.						93.0	90.0	91.0					8																	95895114		2203	4300	6503	95964290	SO:0001583	missense	9134	exon10			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.838G>T	8.37:g.95895114C>A	ENSP00000429089:p.Asp280Tyr		95964290	NM_057749	O95439	Missense_Mutation	SNP	ENST00000520509.1	37	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941779	0.92526	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.42513	1.38;1.38;0.97	6.06	6.06	0.98353	Cyclin, C-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.72875	0.3515	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75929	-0.3144	10	0.72032	D	0.01	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	280;280	Q8WUE3;O96020	.;CCNE2_HUMAN	Y	280;280;172;280	ENSP00000429089:D280Y;ENSP00000309181:D280Y;ENSP00000379437:D280Y	ENSP00000309181:D280Y	D	-	1	0	CCNE2	95964290	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	GAT		0.373	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702	
MTERF3	51001	broad.mit.edu	37	8	97251734	97251734	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:97251734G>T	ENST00000287025.3	-	8	1337	c.1239C>A	c.(1237-1239)ttC>ttA	p.F413L	MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Missense_Mutation_p.F292L|KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000524341.1_Missense_Mutation_p.F169L	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		413					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.F413L(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GCGTTTTTAAGAATTTTTCAA	0.284																																					p.F413L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1239A	8						.						39.0	41.0	40.0					8																	97251734		2200	4295	6495	97320910	SO:0001583	missense	51001	exon8																														ENST00000287025.3:c.1239C>A	8.37:g.97251734G>T	ENSP00000287025:p.Phe413Leu		97320910	NM_015942	B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811475	0.70797	.	.	ENSG00000156469	ENST00000522822;ENST00000524341;ENST00000287025	T;T;T	0.67345	0.2;-0.26;-0.01	5.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.81439	-0.0932	10	0.56958	D	0.05	-15.772	8.8356	0.35111	0.2541:0.0:0.7459:0.0	.	413	Q96E29	MTER1_HUMAN	L	292;169;413	ENSP00000430138:F292L;ENSP00000429267:F169L;ENSP00000287025:F413L	ENSP00000287025:F413L	F	-	3	2	MTERFD1	97320910	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.879000	0.39618	1.368000	0.46115	0.655000	0.94253	TTC		0.284	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		
PTDSS1	9791	broad.mit.edu	37	8	97316341	97316341	+	Nonsense_Mutation	SNP	C	C	T	rs142695191	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:97316341C>T	ENST00000517309.1	+	7	1152	c.826C>T	c.(826-828)Cga>Tga	p.R276*	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Nonsense_Mutation_p.R73*|PTDSS1_ENST00000455950.2_Nonsense_Mutation_p.R130*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	276					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.R276*(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GACCTATGTTCGATGGTTTGA	0.468																																					p.R276X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C826T	8						.						212.0	206.0	208.0					8																	97316341		2203	4300	6503	97385517	SO:0001587	stop_gained	9791	exon7			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.826C>T	8.37:g.97316341C>T	ENSP00000430548:p.Arg276*		97385517	NM_014754	E5RFC5|Q9BUQ5	Nonsense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	38	7.234577	0.98154	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	.	.	.	5.81	2.78	0.32641	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4952	13.2206	0.59885	0.5257:0.4743:0.0:0.0	.	.	.	.	X	276;130;73	.	ENSP00000401248:R130X	R	+	1	2	PTDSS1	97385517	1.000000	0.71417	0.158000	0.22627	0.994000	0.84299	4.150000	0.58098	0.246000	0.21394	0.655000	0.94253	CGA		0.468	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
SDC2	6383	broad.mit.edu	37	8	97621642	97621642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:97621642C>A	ENST00000302190.4	+	5	1393	c.472C>A	c.(472-474)Ctc>Atc	p.L158I	SDC2_ENST00000519914.1_Missense_Mutation_p.L129I|SDC2_ENST00000522911.1_Missense_Mutation_p.L129I|SDC2_ENST00000518385.1_Missense_Mutation_p.L122I	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.L158I(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TATTGGCTTTCTCTTTGCAAT	0.413																																					p.L158I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472A	8						.						168.0	152.0	157.0					8																	97621642		2203	4300	6503	97690818	SO:0001583	missense	6383	exon5			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.472C>A	8.37:g.97621642C>A	ENSP00000307046:p.Leu158Ile		97690818	NM_002998	B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667080	0.67814	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.59224	0.57;0.79;0.66;0.66;0.28	6.05	6.05	0.98169	.	0.060857	0.64402	D	0.000002	T	0.74321	0.3701	L	0.60957	1.885	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.70059	-0.4976	10	0.41790	T	0.15	-12.1489	20.6013	0.99457	0.0:1.0:0.0:0.0	.	158	P34741	SDC2_HUMAN	I	158;122;158;148;129;129;129;129	ENSP00000307046:L158I;ENSP00000429045:L122I;ENSP00000427784:L129I;ENSP00000428256:L129I;ENSP00000429121:L129I	ENSP00000307046:L158I	L	+	1	0	SDC2	97690818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.066000	0.71185	2.878000	0.98634	0.650000	0.86243	CTC		0.413	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998	
MTDH	92140	broad.mit.edu	37	8	98718943	98718943	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:98718943C>A	ENST00000336273.3	+	8	1565	c.1237C>A	c.(1237-1239)Cta>Ata	p.L413I	MTDH_ENST00000519934.1_Missense_Mutation_p.L357I	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	413	Lung-homing for mammary tumors. {ECO:0000250}.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.L413I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AGCTTCACTTCTAAAGTCCCA	0.438																																					p.L413I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1237A	8						.						138.0	142.0	141.0					8																	98718943		2203	4300	6503	98788119	SO:0001583	missense	92140	exon8			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1237C>A	8.37:g.98718943C>A	ENSP00000338235:p.Leu413Ile		98788119	NM_178812	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370150	0.42003	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.47528	0.84;0.85	5.6	3.67	0.42095	.	0.575096	0.16818	N	0.198270	T	0.44329	0.1288	L	0.40543	1.245	0.29629	N	0.845592	D	0.57257	0.979	P	0.51615	0.675	T	0.27262	-1.0079	10	0.19147	T	0.46	-4.7763	8.6223	0.33868	0.1508:0.771:0.0:0.0782	.	413	Q86UE4	LYRIC_HUMAN	I	413;357;83	ENSP00000338235:L413I;ENSP00000428168:L357I	ENSP00000338235:L413I	L	+	1	2	MTDH	98788119	0.668000	0.27493	0.992000	0.48379	0.998000	0.95712	0.567000	0.23608	1.487000	0.48415	0.655000	0.94253	CTA		0.438	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
MATN2	4147	broad.mit.edu	37	8	99039681	99039681	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:99039681C>T	ENST00000520016.1	+	13	2104	c.1980C>T	c.(1978-1980)atC>atT	p.I660I	MATN2_ENST00000524308.1_Silent_p.I619I|MATN2_ENST00000522025.2_Silent_p.I376I|MATN2_ENST00000521689.1_Silent_p.I660I|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Silent_p.I660I			O00339	MATN2_HUMAN	matrilin 2	660	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.I660I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCTTTGTGATCGATGGATCCA	0.403																																					p.I660I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1980T	8						.						92.0	91.0	91.0					8																	99039681		1848	4092	5940	99108857	SO:0001819	synonymous_variant	4147	exon14			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1980C>T	8.37:g.99039681C>T			99108857	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983283	0.18889	.	.	ENSG00000132561	ENST00000518154;ENST00000517321	.	.	.	5.0	-4.97	0.03029	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.2025	10.6386	0.45579	0.0856:0.2617:0.0:0.6527	.	.	.	.	X	443;94	.	.	R	+	1	2	MATN2	99108857	0.697000	0.27767	0.941000	0.38009	0.961000	0.63080	-0.123000	0.10611	-0.961000	0.03609	-0.350000	0.07774	CGA		0.403	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
ERICH5	203111	broad.mit.edu	37	8	99101670	99101670	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:99101670C>A	ENST00000318528.3	+	2	784	c.425C>A	c.(424-426)tCt>tAt	p.S142Y	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		142								p.S142Y(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGCCGAGTCTCTAAAAGGA	0.557																																					p.S142Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425A	8						.						67.0	69.0	68.0					8																	99101670		2203	4300	6503	99170846	SO:0001583	missense	203111	exon2																														ENST00000318528.3:c.425C>A	8.37:g.99101670C>A	ENSP00000315614:p.Ser142Tyr		99170846	NM_173549	G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471985	0.26423	.	.	ENSG00000177459	ENST00000318528	T	0.48522	0.81	5.08	4.2	0.49525	.	1.276180	0.05296	N	0.522153	T	0.36717	0.0977	N	0.14661	0.345	0.24977	N	0.991627	B	0.06786	0.001	B	0.10450	0.005	T	0.29852	-0.9998	10	0.72032	D	0.01	1.1802	11.1412	0.48404	0.1836:0.8164:0.0:0.0	.	142	Q6P6B1	CH047_HUMAN	Y	142	ENSP00000315614:S142Y	ENSP00000315614:S142Y	S	+	2	0	C8orf47	99170846	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.192000	0.17096	1.488000	0.48433	0.655000	0.94253	TCT		0.557	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1		
HRSP12	10247	broad.mit.edu	37	8	99115125	99115125	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:99115125C>T	ENST00000254878.3	-	6	503	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	120					regulation of translational termination (GO:0006449)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deaminase activity (GO:0019239)|endonuclease activity (GO:0004519)|poly(A) RNA binding (GO:0044822)	p.R120Q(2)		large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AATTTCAATTCGGCTGCCCTG	0.368																																					p.R120Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G359A	8						.						129.0	124.0	125.0					8																	99115125		2203	4300	6503	99184301	SO:0001583	missense	10247	exon6			BC008418	CCDS6276.1	8q22	2014-05-09			ENSG00000132541	ENSG00000132541			16897	protein-coding gene	gene with protein product	"""translational inhibitor p14.5"""	602487				8973653, 9405234, 20817725	Standard	NM_005836		Approved	UK114, P14.5, PSP	uc003yii.1	P52758	OTTHUMG00000164670	ENST00000254878.3:c.359G>A	8.37:g.99115125C>T	ENSP00000254878:p.Arg120Gln		99184301	NM_005836	Q6FHU9|Q6IBG0	Missense_Mutation	SNP	ENST00000254878.3	37	CCDS6276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.57|11.57	1.679388|1.679388	0.29783|0.29783	.|.	.|.	ENSG00000132541|ENSG00000132541	ENST00000521560|ENST00000254878;ENST00000520989	.|.	.|.	.|.	5.36|5.36	3.53|3.53	0.40419|0.40419	.|Endoribonuclease L-PSP/chorismate mutase-like (2);YjgF-like protein, conserved site (1);	.|0.070231	.|0.64402	.|D	.|0.000016	T|T	0.31009|0.31009	0.0783|0.0783	L|L	0.45137|0.45137	1.4|1.4	0.18873|0.18873	N|N	0.999981|0.999981	.|B	.|0.33528	.|0.416	.|B	.|0.31101	.|0.124	T|T	0.15521|0.15521	-1.0434|-1.0434	5|9	.|0.41790	.|T	.|0.15	.|.	7.9431|7.9431	0.29969|0.29969	0.1593:0.758:0.0:0.0826|0.1593:0.758:0.0:0.0826	.|.	.|120	.|P52758	.|UK114_HUMAN	K|Q	110|120;97	.|.	.|ENSP00000254878:R120Q	E|R	-|-	1|2	0|0	HRSP12|HRSP12	99184301|99184301	0.759000|0.759000	0.28416|0.28416	0.008000|0.008000	0.14137|0.14137	0.271000|0.271000	0.26615|0.26615	2.045000|2.045000	0.41250|0.41250	0.720000|0.720000	0.32209|0.32209	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.368	HRSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379687.1	NM_005836	
KCNS2	3788	broad.mit.edu	37	8	99440421	99440421	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:99440421G>A	ENST00000287042.4	+	2	564	c.214G>A	c.(214-216)Gac>Aac	p.D72N	KCNS2_ENST00000521839.1_Missense_Mutation_p.D72N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	72					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.D72N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTTCTACTTCGACCGCAACCC	0.602																																					p.D72N	Pancreas(138;844 2489 9202 24627)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	8						.						129.0	100.0	110.0					8																	99440421		2203	4300	6503	99509597	SO:0001583	missense	3788	exon2			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.214G>A	8.37:g.99440421G>A	ENSP00000287042:p.Asp72Asn		99509597	NM_020697	A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	g	27.5	4.838245	0.91117	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.66460	-0.21;-0.21	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	M	0.91768	3.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.89176	0.3540	10	0.87932	D	0	.	19.1824	0.93629	0.0:0.0:1.0:0.0	.	72	Q9ULS6	KCNS2_HUMAN	N	72	ENSP00000287042:D72N;ENSP00000430712:D72N	ENSP00000287042:D72N	D	+	1	0	KCNS2	99509597	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	9.866000	0.99616	2.523000	0.85059	0.558000	0.71614	GAC		0.602	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
ZNF251	90987	broad.mit.edu	37	8	145948711	145948711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:145948711C>A	ENST00000292562.7	-	5	609	c.334G>T	c.(334-336)Gaa>Taa	p.E112*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E69*(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTTTTTACTTCTTCGGAAAAT	0.393																																					p.E112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G334T	8						.						14.0	15.0	15.0					8																	145948711		1795	4053	5848	145919520	SO:0001587	stop_gained	90987	exon5			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.334G>T	8.37:g.145948711C>A	ENSP00000292562:p.Glu112*		145919520	NM_138367	Q2M219	Nonsense_Mutation	SNP	ENST00000292562.7	37	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519153	0.44866	.	.	ENSG00000198169	ENST00000292562	.	.	.	1.97	1.97	0.26223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.2649	9.957	0.41673	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	ENSP00000292562:E112X	E	-	1	0	ZNF251	145919520	0.000000	0.05858	0.332000	0.25469	0.153000	0.21895	0.151000	0.16283	1.384000	0.46424	0.313000	0.20887	GAA		0.393	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367	
USP9Y	8287	broad.mit.edu	37	Y	14887456	14887456	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrY:14887456A>G	ENST00000338981.3	+	18	3328	c.2383A>G	c.(2383-2385)Aaa>Gaa	p.K795E	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	795					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.K795E(2)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGATCTTCTTAAAGAGATATA	0.353																																					p.K795E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2383G	Y						.																																			13396850	SO:0001583	missense	8287	exon18			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2383A>G	Y.37:g.14887456A>G	ENSP00000342812:p.Lys795Glu		13396850	NM_004654	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.353	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654	
USP9Y	8287	broad.mit.edu	37	Y	14951946	14951946	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrY:14951946G>T	ENST00000338981.3	+	36	6439	c.5494G>T	c.(5494-5496)Gca>Tca	p.A1832S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1832	USP.				BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.A1832S(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTACACAGTAGCAGGTGTTGC	0.388																																					p.A1832S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5494T	Y						.						72.0	64.0	66.0					Y																	14951946		597	1947	2544	13461340	SO:0001583	missense	8287	exon36			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.5494G>T	Y.37:g.14951946G>T	ENSP00000342812:p.Ala1832Ser		13461340	NM_004654	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.388	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654	
TBL1Y	90665	broad.mit.edu	37	Y	6942631	6942631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrY:6942631G>T	ENST00000383032.1	+	13	1572	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	TBL1Y_ENST00000346432.3_Nonsense_Mutation_p.E309*|TBL1Y_ENST00000355162.2_Nonsense_Mutation_p.E309*	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E309*(1)		kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TCACACAGGAGAAGCCAAACA	0.368																																					p.E309X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G925T	Y						.						122.0	133.0	130.0					Y																	6942631		639	1996	2635	7002631	SO:0001587	stop_gained	90665	exon13			AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.925G>T	Y.37:g.6942631G>T	ENSP00000372499:p.Glu309*		7002631	NM_033284	A1L4B3	Nonsense_Mutation	SNP	ENST00000383032.1	37	CCDS14779.1																																																																																				0.368	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284	
KDM5D	8284	broad.mit.edu	37	Y	21870162	21870162	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrY:21870162G>T	ENST00000317961.4	-	22	3500	c.3229C>A	c.(3229-3231)Ctc>Atc	p.L1077I	KDM5D_ENST00000541639.1_Missense_Mutation_p.L1108I|KDM5D_ENST00000382806.2_Missense_Mutation_p.L1020I	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1077					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.L1077I(2)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TTCTTCTTGAGAAAGGTCTTG	0.552																																					p.L1077I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3229A	Y						.						39.0	42.0	41.0					Y																	21870162		573	1913	2486	20329550	SO:0001583	missense	8284	exon22			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.3229C>A	Y.37:g.21870162G>T	ENSP00000322408:p.Leu1077Ile		20329550	NM_004653	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.552	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653	
SELL	6402	broad.mit.edu	37	1	169670782	169670782	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169670782delG	ENST00000236147.4	-	7	1199	c.1039delC	c.(1039-1041)ctcfs	p.L347fs	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	334					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.L334fs*25(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GGAATGAAGAGGGGGTTATAA	0.398																																					p.L347fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1039delC	1						.						49.0	46.0	47.0					1																	169670782		1859	4097	5956	167937406	SO:0001589	frameshift_variant	6402	exon7			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.1039delC	1.37:g.169670782delG	ENSP00000236147:p.Leu347fs		167937406	NM_000655	B2R6Q8|P15023|Q9UJ43	Frame_Shift_Del	DEL	ENST00000236147.4	37	CCDS53427.1																																																																																				0.398	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655	
CACNA1E	777	broad.mit.edu	37	1	181754849	181754849	+	Splice_Site	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181754849delA	ENST00000367573.2	+	43	5680	c.5680delA	c.(5680-5682)aaa>aa	p.K1894fs	CACNA1E_ENST00000367567.4_Splice_Site_p.K1501fs|CACNA1E_ENST00000367570.1_Splice_Site_p.K1894fs|CACNA1E_ENST00000357570.5_Splice_Site_p.K1845fs|CACNA1E_ENST00000358338.5_Splice_Site_p.K1826fs|CACNA1E_ENST00000526775.1_Splice_Site_p.K1875fs|CACNA1E_ENST00000360108.3_Splice_Site_p.K1875fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1894					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.N1895fs*35(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTACCCAGAAAAATGCCCC	0.458																																					p.K1894fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.5680delA	1						.						136.0	135.0	135.0					1																	181754849		1876	4101	5977	180021472	SO:0001630	splice_region_variant	777	exon43			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5680-1A>-	1.37:g.181754849delA			180021472	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	CCDS55664.1																																																																																				0.458	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Frame_Shift_Del
AGL	178	broad.mit.edu	37	1	100379159	100379159	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100379159C>T	ENST00000294724.4	+	30	4504	c.4026C>T	c.(4024-4026)tcC>tcT	p.S1342S	AGL_ENST00000370165.3_Silent_p.S1342S|AGL_ENST00000361302.3_Silent_p.S1326S|AGL_ENST00000370161.2_Silent_p.S1326S|AGL_ENST00000361522.4_Silent_p.S1325S|AGL_ENST00000370163.3_Silent_p.S1342S|AGL_ENST00000361915.3_Silent_p.S1342S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.S1342S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTCATGTTTCCGAAGACCCTT	0.363																																					p.S1325S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3975T	1						.						86.0	87.0	87.0					1																	100379159		2203	4300	6503	100151747	SO:0001819	synonymous_variant	178	exon28			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4026C>T	1.37:g.100379159C>T			100151747	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
AGL	178	broad.mit.edu	37	1	100382266	100382266	+	Missense_Mutation	SNP	G	G	A	rs185681971		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100382266G>A	ENST00000294724.4	+	33	4938	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	AGL_ENST00000370165.3_Missense_Mutation_p.R1487Q|AGL_ENST00000361302.3_Missense_Mutation_p.R1471Q|AGL_ENST00000370161.2_Missense_Mutation_p.R1471Q|AGL_ENST00000361522.4_Missense_Mutation_p.R1470Q|AGL_ENST00000370163.3_Missense_Mutation_p.R1487Q|AGL_ENST00000361915.3_Missense_Mutation_p.R1487Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1487			R -> G (in dbSNP:rs12118058).		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.R1487Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTCTTTCCCGACATTATGTT	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		16809	0.001		0.0	False		,,,				2504	0.0				p.R1470Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4409A	1						.						76.0	79.0	78.0					1																	100382266		2203	4300	6503	100154854	SO:0001583	missense	178	exon31			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4460G>A	1.37:g.100382266G>A	ENSP00000294724:p.Arg1487Gln		100154854	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.98	3.521963	0.64747	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.89	5.89	0.94794	Six-hairpin glycosidase-like (1);	0.159069	0.56097	N	0.000025	T	0.55065	0.1897	M	0.74647	2.275	0.53005	D	0.999966	B;B;B	0.31581	0.329;0.329;0.211	B;B;B	0.28011	0.075;0.075;0.085	T	0.58651	-0.7599	10	0.13853	T	0.58	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	1470;1471;1487	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	1487;1487;1487;1487;1471;1471;1470	ENSP00000355106:R1487Q;ENSP00000359184:R1487Q;ENSP00000359182:R1487Q;ENSP00000294724:R1487Q;ENSP00000354971:R1471Q;ENSP00000359180:R1471Q;ENSP00000354635:R1470Q	ENSP00000294724:R1487Q	R	+	2	0	AGL	100154854	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.391000	0.73208	2.783000	0.95769	0.655000	0.94253	CGA		0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
HIAT1	64645	broad.mit.edu	37	1	100533593	100533593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100533593C>T	ENST00000370152.3	+	6	683	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	183					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R183*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTATCTTGGACGAGTATATGG	0.433																																					p.R183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	1						.						241.0	226.0	231.0					1																	100533593		2203	4300	6503	100306181	SO:0001587	stop_gained	64645	exon6			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.547C>T	1.37:g.100533593C>T	ENSP00000359171:p.Arg183*		100306181	NM_033055	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Nonsense_Mutation	SNP	ENST00000370152.3	37	CCDS763.1	.	.	.	.	.	.	.	.	.	.	C	37	5.994499	0.97184	.	.	ENSG00000156875	ENST00000370152	.	.	.	5.68	5.68	0.88126	.	0.083213	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.6079	19.7989	0.96497	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000359171:R183X	R	+	1	2	HIAT1	100306181	0.998000	0.40836	0.995000	0.50966	0.986000	0.74619	3.637000	0.54324	2.683000	0.91414	0.561000	0.74099	CGA		0.433	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055	
SASS6	163786	broad.mit.edu	37	1	100586960	100586960	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100586960G>T	ENST00000287482.5	-	5	597	c.457C>A	c.(457-459)Ctc>Atc	p.L153I	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	153					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.L153I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		CAGCCTGCGAGAAATTTCTTT	0.303																																					p.L153I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C457A	1						.						57.0	59.0	58.0					1																	100586960		2201	4300	6501	100359548	SO:0001583	missense	163786	exon5			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.457C>A	1.37:g.100586960G>T	ENSP00000287482:p.Leu153Ile		100359548	NM_194292	D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	CCDS764.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736534	0.69304	.	.	ENSG00000156876	ENST00000287482;ENST00000539329	T	0.35048	1.33	5.61	1.05	0.20165	.	0.073764	0.53938	D	0.000050	T	0.44664	0.1304	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44081	-0.9351	10	0.49607	T	0.09	-9.1116	8.0347	0.30486	0.4631:0.0:0.5369:0.0	.	153	Q6UVJ0	SAS6_HUMAN	I	153;126	ENSP00000287482:L153I	ENSP00000287482:L153I	L	-	1	0	SASS6	100359548	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.068000	0.30629	0.398000	0.25338	0.655000	0.94253	CTC		0.303	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292	
UBE4B	10277	broad.mit.edu	37	1	10161225	10161225	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:10161225G>A	ENST00000253251.8	+	4	1246	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	UBE4B_ENST00000377157.3_Missense_Mutation_p.R20Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.R136Q					ubiquitination factor E4B									p.R136Q(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAAAATGATCGAAGAGAAAAG	0.388																																					p.R136Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G407A	1						.						153.0	145.0	148.0					1																	10161225		2203	4300	6503	10083812	SO:0001583	missense	10277	exon4			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.407G>A	1.37:g.10161225G>A	ENSP00000253251:p.Arg136Gln		10083812	NM_001105562		Missense_Mutation	SNP	ENST00000253251.8	37	CCDS110.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473916	0.96291	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.52526	0.75;0.8;0.66	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	L	0.35854	1.095	0.43263	D	0.995204	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.947	T	0.52041	-0.8628	10	0.24483	T	0.36	-9.0481	19.1353	0.93426	0.0:0.0:1.0:0.0	.	136;136	O95155;O95155-2	UBE4B_HUMAN;.	Q	136;20;136	ENSP00000253251:R136Q;ENSP00000366362:R20Q;ENSP00000343001:R136Q	ENSP00000253251:R136Q	R	+	2	0	UBE4B	10083812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.507000	0.84556	0.557000	0.71058	CGA		0.388	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
UBE4B	10277	broad.mit.edu	37	1	10177622	10177622	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:10177622C>T	ENST00000253251.8	+	7	1754	c.915C>T	c.(913-915)ttC>ttT	p.F305F	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000377157.3_Silent_p.F189F|UBE4B_ENST00000343090.6_Silent_p.F434F					ubiquitination factor E4B									p.F305F(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCGAGTGTTTCGACCGAGTTG	0.393																																					p.F434F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1302T	1						.						66.0	65.0	65.0					1																	10177622		2203	4300	6503	10100209	SO:0001819	synonymous_variant	10277	exon8			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.915C>T	1.37:g.10177622C>T			10100209	NM_001105562		Silent	SNP	ENST00000253251.8	37	CCDS110.1																																																																																				0.393	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
RTCA	8634	broad.mit.edu	37	1	100756976	100756976	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100756976G>T	ENST00000370128.4	+	11	1186	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RTCA_ENST00000260563.4_Missense_Mutation_p.K352N	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	339					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.K339N(1)									TTATTGTGAAGAAATCAGAAG	0.368																																					p.K339N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1017T	1						.						74.0	85.0	81.0					1																	100756976		2200	4298	6498	100529564	SO:0001583	missense	8634	exon11			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.1017G>T	1.37:g.100756976G>T	ENSP00000359146:p.Lys339Asn		100529564	NM_003729	Q5VVL5|Q5VVL6|Q96E99	Missense_Mutation	SNP	ENST00000370128.4	37	CCDS768.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748087	0.30955	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.74	2.5	0.30297	-terminal phosphate cyclase domain (2);RNA 3&apos (4);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.306949	0.36303	N	0.002672	T	0.24160	0.0585	L	0.40543	1.245	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15484	0.005;0.013	T	0.13602	-1.0503	9	0.31617	T	0.26	-13.3176	3.7746	0.08654	0.2535:0.1968:0.5498:0.0	.	352;339	O00442-2;O00442	.;RTC1_HUMAN	N	339;352	.	ENSP00000260563:K352N	K	+	3	2	RTCD1	100529564	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.181000	0.32017	1.436000	0.47453	0.655000	0.94253	AAG		0.368	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2		
EXTL2	2135	broad.mit.edu	37	1	101343233	101343233	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:101343233G>T	ENST00000370114.3	-	3	1668	c.232C>A	c.(232-234)Ctc>Atc	p.L78I	EXTL2_ENST00000370113.3_Missense_Mutation_p.L78I|EXTL2_ENST00000535414.1_Missense_Mutation_p.L65I	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	78					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.L78I(1)|p.L86I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTCAATAAGAGATCTGTTCTG	0.398																																					p.L78I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C232A	1						.						131.0	131.0	131.0					1																	101343233		2203	4300	6503	101115821	SO:0001583	missense	2135	exon3			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.232C>A	1.37:g.101343233G>T	ENSP00000359132:p.Leu78Ile		101115821	NM_001033025	B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166935	0.38217	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.120577	0.56097	D	0.000027	T	0.64170	0.2574	M	0.62154	1.92	0.47037	D	0.999291	B;B	0.24043	0.096;0.096	B;B	0.37304	0.246;0.246	T	0.57528	-0.7796	10	0.07644	T	0.81	-20.9422	11.0715	0.48006	0.112:0.0:0.888:0.0	.	78;78	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	I	78;78;65;86;65	ENSP00000359132:L78I;ENSP00000359131:L78I;ENSP00000444385:L65I;ENSP00000403363:L86I;ENSP00000392255:L65I	ENSP00000359131:L78I	L	-	1	0	EXTL2	101115821	1.000000	0.71417	0.984000	0.44739	0.926000	0.56050	1.917000	0.39996	2.793000	0.96121	0.655000	0.94253	CTC		0.398	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439	
EXTL2	2135	broad.mit.edu	37	1	101343377	101343377	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:101343377A>C	ENST00000370114.3	-	3	1524	c.88T>G	c.(88-90)Tta>Gta	p.L30V	EXTL2_ENST00000370113.3_Missense_Mutation_p.L30V|EXTL2_ENST00000535414.1_Missense_Mutation_p.L17V	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	30					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.L30V(1)|p.L38V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTACCAGTAATAATACGAGG	0.453																																					p.L30V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T88G	1						.						80.0	69.0	73.0					1																	101343377		2203	4300	6503	101115965	SO:0001583	missense	2135	exon3			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.88T>G	1.37:g.101343377A>C	ENSP00000359132:p.Leu30Val		101115965	NM_001033025	B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248839	0.39797	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	D;D;D;D;T	0.84070	-1.79;-1.79;-1.79;-1.8;0.3	5.51	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	L	0.36672	1.1	0.53688	D	0.999979	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.81286	-0.1001	10	0.72032	D	0.01	-15.4903	10.7109	0.45982	0.2226:0.0:0.7774:0.0	.	30;30	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	V	30;30;17;38;17	ENSP00000359132:L30V;ENSP00000359131:L30V;ENSP00000444385:L17V;ENSP00000403363:L38V;ENSP00000392255:L17V	ENSP00000359131:L30V	L	-	1	2	EXTL2	101115965	0.992000	0.36948	0.005000	0.12908	0.038000	0.13279	2.054000	0.41335	0.278000	0.22164	-0.177000	0.13119	TTA		0.453	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439	
SLC30A7	148867	broad.mit.edu	37	1	101431461	101431461	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:101431461A>C	ENST00000370112.4	+	10	1257	c.1070A>C	c.(1069-1071)aAt>aCt	p.N357T	SLC30A7_ENST00000357650.4_Missense_Mutation_p.N357T	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	357					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)	p.N357T(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CAAACACATAATATTTTTACT	0.328																																					p.N357T	NSCLC(91;473 1491 3102 16827 21633)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1070C	1						.						105.0	104.0	104.0					1																	101431461		2203	4300	6503	101204049	SO:0001583	missense	148867	exon10			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.1070A>C	1.37:g.101431461A>C	ENSP00000359130:p.Asn357Thr		101204049	NM_133496	B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	CCDS776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.12|10.12	1.264279|1.264279	0.23136|0.23136	.|.	.|.	ENSG00000162695|ENSG00000162695	ENST00000370112;ENST00000357650|ENST00000370111	T;T|.	0.63255|.	-0.03;-0.03|.	5.82|5.82	4.68|4.68	0.58851|0.58851	.|.	0.044125|.	0.85682|.	D|.	0.000000|.	T|.	0.42359|.	0.1199|.	L|L	0.41906|0.41906	1.305|1.305	0.80722|0.80722	D|D	1|1	P|.	0.35944|.	0.529|.	B|.	0.31869|.	0.137|.	T|.	0.35251|.	-0.9796|.	10|.	0.28530|.	T|.	0.3|.	-5.2517|-5.2517	11.9523|11.9523	0.52962|0.52962	0.9319:0.0:0.0681:0.0|0.9319:0.0:0.0681:0.0	.|.	357|.	Q8NEW0|.	ZNT7_HUMAN|.	T|Y	357|76	ENSP00000359130:N357T;ENSP00000350278:N357T|.	ENSP00000350278:N357T|.	N|X	+|+	2|3	0|2	SLC30A7|SLC30A7	101204049|101204049	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	5.308000|5.308000	0.65768|0.65768	1.017000|1.017000	0.39495|0.39495	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.328	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496	
DPH5	51611	broad.mit.edu	37	1	101487279	101487279	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:101487279C>A	ENST00000370109.3	-	3	290	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	DPH5_ENST00000488176.1_Nonsense_Mutation_p.E60*|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Nonsense_Mutation_p.E60*	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)	p.E60*(1)		endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TGTTCCACTTCTTCTCTATCA	0.373																																					p.E60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G178T	1						.						159.0	148.0	151.0					1																	101487279		1861	4114	5975	101259867	SO:0001587	stop_gained	51611	exon3			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.178G>T	1.37:g.101487279C>A	ENSP00000359127:p.Glu60*		101259867	NM_001077394	A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Nonsense_Mutation	SNP	ENST00000370109.3	37	CCDS41358.1	.	.	.	.	.	.	.	.	.	.	C	37	6.632647	0.97722	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.02	3.14	0.36123	.	0.255981	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-16.1934	8.6773	0.34187	0.0:0.6789:0.0:0.3211	.	.	.	.	X	60	.	ENSP00000339630:E60X	E	-	1	0	DPH5	101259867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.385000	0.44371	1.565000	0.49641	0.655000	0.94253	GAA		0.373	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958	
S1PR1	1901	broad.mit.edu	37	1	101705491	101705491	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:101705491G>T	ENST00000305352.6	+	2	1326	c.951G>T	c.(949-951)gaG>gaT	p.E317D		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	317					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.E317D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCAACAAGGAGATGCGTCGGG	0.547																																					p.E317D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G951T	1						.						192.0	194.0	193.0					1																	101705491		2203	4300	6503	101478079	SO:0001583	missense	1901	exon2			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.951G>T	1.37:g.101705491G>T	ENSP00000305416:p.Glu317Asp		101478079	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149689	0.37923	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.37411	1.2	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	L	0.41906	1.305	0.58432	D	0.999999	B	0.15719	0.014	B	0.22880	0.042	T	0.06144	-1.0843	10	0.10902	T	0.67	.	10.3368	0.43854	0.1533:0.0:0.8467:0.0	.	317	P21453	S1PR1_HUMAN	D	317	ENSP00000305416:E317D	ENSP00000305416:E317D	E	+	3	2	S1PR1	101478079	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.755000	0.62198	2.378000	0.81104	0.305000	0.20034	GAG		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
KIF1B	23095	broad.mit.edu	37	1	10318593	10318593	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:10318593G>T	ENST00000377086.1	+	4	428	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	KIF1B_ENST00000377093.4_Missense_Mutation_p.D76Y|KIF1B_ENST00000263934.6_Missense_Mutation_p.D76Y|KIF1B_ENST00000377081.1_Missense_Mutation_p.D76Y|KIF1B_ENST00000377083.1_Missense_Mutation_p.D76Y			O60333	KIF1B_HUMAN	kinesin family member 1B	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D76Y(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGTACAATGACATTGGCAA	0.373																																					p.D76Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G226T	1						.						153.0	143.0	147.0					1																	10318593		2203	4300	6503	10241180	SO:0001583	missense	23095	exon4			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.226G>T	1.37:g.10318593G>T	ENSP00000366290:p.Asp76Tyr		10241180	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	27.6	4.848000	0.91277	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.62266	1.93	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.958;1.0	D;D;D;D;D;P;D	0.97110	0.999;1.0;1.0;1.0;0.996;0.737;0.999	D	0.86199	0.1617	10	0.72032	D	0.01	.	19.4076	0.94655	0.0:0.0:1.0:0.0	.	76;76;76;76;76;76;76	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	Y	76	ENSP00000263934:D76Y;ENSP00000366297:D76Y;ENSP00000366290:D76Y;ENSP00000366287:D76Y;ENSP00000366284:D76Y	ENSP00000263934:D76Y	D	+	1	0	KIF1B	10241180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.776000	0.99001	2.586000	0.87340	0.460000	0.39030	GAC		0.373	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
KIF1B	23095	broad.mit.edu	37	1	10364222	10364222	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:10364222C>T	ENST00000377086.1	+	22	2317				RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Silent_p.D993D|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.D993D			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D993D(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCAAAAGACGATGAAGCAA	0.433																																					p.D993D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2979T	1						.						93.0	100.0	98.0					1																	10364222		2203	4300	6503	10286809	SO:0001627	intron_variant	23095	exon21			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6918C>T	1.37:g.10364222C>T			10286809	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Intron	SNP	ENST00000377086.1	37																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
OLFM3	118427	broad.mit.edu	37	1	102269874	102269874	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:102269874G>T	ENST00000338858.5	-	6	1356	c.1357C>A	c.(1357-1359)Ctc>Atc	p.L453I	OLFM3_ENST00000370103.4_Missense_Mutation_p.L433I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	453	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.L453I(1)|p.L433I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGGCATAGAGAGCTCGATCT	0.428																																					p.L433I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1297A	1						.						200.0	186.0	191.0					1																	102269874		2203	4300	6503	102042462	SO:0001583	missense	118427	exon6			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1357C>A	1.37:g.102269874G>T	ENSP00000345192:p.Leu453Ile		102042462	NM_058170	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.106751	0.77096	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.95238	-3.65;-3.65	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.987	D	0.97034	0.9752	10	0.66056	D	0.02	.	19.9831	0.97336	0.0:0.0:1.0:0.0	.	433;453	Q5T3V6;Q96PB7	.;NOE3_HUMAN	I	433;453	ENSP00000359121:L433I;ENSP00000345192:L453I	ENSP00000345192:L453I	L	-	1	0	OLFM3	102042462	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.476000	0.97823	2.728000	0.93425	0.650000	0.86243	CTC		0.428	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1		
COL11A1	1301	broad.mit.edu	37	1	103488405	103488405	+	Missense_Mutation	SNP	C	C	T	rs372387693		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:103488405C>T	ENST00000370096.3	-	8	1450	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	COL11A1_ENST00000358392.2_Missense_Mutation_p.E392K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E341K|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	380	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E392K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAATCATATTCGCCTAAATCT	0.363																																					p.E380K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1138A	1						.	C	LYS/GLU,LYS/GLU,LYS/GLU,	0,4406		0,0,2203	75.0	75.0	75.0		1021,1138,1174,	5.4	1.0	1		75	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,intron	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	56,56,56,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,	341/1768,380/1807,392/1819,	103488405	2,13004	2203	4300	6503	103260993	SO:0001583	missense	1301	exon8			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1138G>A	1.37:g.103488405C>T	ENSP00000359114:p.Glu380Lys		103260993	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036598	0.54896	0.0	2.33E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88664	-2.4;-0.6;-2.41;-0.57	5.41	5.41	0.78517	.	0.055303	0.64402	D	0.000001	D	0.83505	0.5269	M	0.83483	2.645	0.58432	D	0.999995	P;P;P	0.50710	0.938;0.938;0.897	B;B;B	0.36567	0.228;0.228;0.114	D	0.84087	0.0388	10	0.15952	T	0.53	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	341;392;380	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	K	380;392;341;392	ENSP00000359114:E380K;ENSP00000351163:E392K;ENSP00000302551:E341K;ENSP00000408640:E392K	ENSP00000302551:E341K	E	-	1	0	COL11A1	103260993	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.984000	0.49353	2.519000	0.84933	0.643000	0.83706	GAA		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103491079	103491079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:103491079C>A	ENST00000370096.3	-	7	1300	c.988G>T	c.(988-990)Gag>Tag	p.E330*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.E342*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E291*|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	330	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E342*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTATTACCTCATTTGTCCCA	0.328																																					p.E330X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G988T	1						.						140.0	131.0	134.0					1																	103491079		2203	4300	6503	103263667	SO:0001587	stop_gained	1301	exon7			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.988G>T	1.37:g.103491079C>A	ENSP00000359114:p.Glu330*		103263667	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	36	5.930312	0.97116	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	.	.	.	5.23	5.23	0.72850	.	0.202505	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.1629	0.93541	0.0:1.0:0.0:0.0	.	.	.	.	X	330;342;291;342	.	ENSP00000302551:E291X	E	-	1	0	COL11A1	103263667	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	5.562000	0.67346	2.606000	0.88127	0.637000	0.83480	GAG		0.328	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
COL11A1	1301	broad.mit.edu	37	1	103540309	103540309	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:103540309C>A	ENST00000370096.3	-	4	828	c.516G>T	c.(514-516)gaG>gaT	p.E172D	COL11A1_ENST00000358392.2_Missense_Mutation_p.E172D|COL11A1_ENST00000353414.4_Missense_Mutation_p.E172D|COL11A1_ENST00000512756.1_Missense_Mutation_p.E172D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	172	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.E172D(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTTTTCTTCTCCACGCTGA	0.373																																					p.E172D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G516T	1						.						154.0	134.0	140.0					1																	103540309		2202	4300	6502	103312897	SO:0001583	missense	1301	exon4			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.516G>T	1.37:g.103540309C>A	ENSP00000359114:p.Glu172Asp		103312897	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877130	0.17395	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.01963	4.53;4.53;4.53;4.53;4.53;4.53	5.73	2.9	0.33743	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.052537	0.85682	D	0.000000	T	0.02193	0.0068	L	0.42245	1.32	0.48341	D	0.999637	D;D;D;D	0.69078	0.997;0.996;0.996;0.997	D;D;D;D	0.79108	0.992;0.987;0.987;0.992	T	0.56980	-0.7889	10	0.11182	T	0.66	.	8.7582	0.34658	0.0:0.7169:0.0:0.2831	.	172;172;172;172	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	D	172;172;172;172;172;99	ENSP00000359114:E172D;ENSP00000351163:E172D;ENSP00000302551:E172D;ENSP00000426533:E172D;ENSP00000408640:E172D;ENSP00000410177:E99D	ENSP00000302551:E172D	E	-	3	2	COL11A1	103312897	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.663000	0.25053	0.364000	0.24374	0.650000	0.86243	GAG		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
DFFA	1676	broad.mit.edu	37	1	10529303	10529303	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:10529303G>T	ENST00000377038.3	-	2	296	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	DFFA_ENST00000377036.2_Missense_Mutation_p.L77M	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	77	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L77M(1)		large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GGTAGACACAGAAAGTAATCG	0.453																																					p.L77M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C229A	1						.						178.0	156.0	163.0					1																	10529303		2203	4300	6503	10451890	SO:0001583	missense	1676	exon2			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.229C>A	1.37:g.10529303G>T	ENSP00000366237:p.Leu77Met		10451890	NM_004401	Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861433	0.51482	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.4	4.49	0.54785	Caspase-activated nuclease CIDE-N (3);	0.071050	0.64402	D	0.000018	T	0.66297	0.2775	L	0.48362	1.52	0.46981	D	0.999272	P;D	0.76494	0.841;0.999	B;D	0.70227	0.39;0.968	T	0.64927	-0.6292	9	0.41790	T	0.15	-4.8286	10.6511	0.45649	0.2023:0.0:0.7977:0.0	.	77;77	O00273-2;O00273	.;DFFA_HUMAN	M	77	.	ENSP00000366235:L77M	L	-	1	2	DFFA	10451890	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	2.032000	0.41127	1.267000	0.44247	0.655000	0.94253	CTG		0.453	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401	
AMY2A	279	broad.mit.edu	37	1	104160195	104160195	+	Nonsense_Mutation	SNP	C	C	T	rs182106305	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:104160195C>T	ENST00000414303.2	+	1	197	c.133C>T	c.(133-135)Cga>Tga	p.R45*		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	45					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.R45*(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TGAATGTGAGCGATATTTAGC	0.428																																					p.R45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C133T	1						.						265.0	219.0	235.0					1																	104160195		2201	4279	6480	103961718	SO:0001587	stop_gained	279	exon1			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.133C>T	1.37:g.104160195C>T	ENSP00000397582:p.Arg45*		103961718	NM_000699	B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	ENST00000414303.2	37	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.18|18.18	3.566174|3.566174	0.65651|0.65651	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|.	.|.	.|.	3.22|3.22	1.15|1.15	0.20763|0.20763	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.08891|.	0.0220|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29274|.	-1.0017|.	3|.	.|0.02654	.|T	.|1	.|.	10.7957|10.7957	0.46459|0.46459	0.3439:0.6561:0.0:0.0|0.3439:0.6561:0.0:0.0	.|.	.|.	.|.	.|.	V|X	43|45	.|.	.|ENSP00000377509:R45X	A|R	+|+	2|1	0|2	AMY2A|AMY2A	103961718|103961718	0.999000|0.999000	0.42202|0.42202	0.994000|0.994000	0.49952|0.49952	0.527000|0.527000	0.34593|0.34593	1.964000|1.964000	0.40462|0.40462	0.146000|0.146000	0.19002|0.19002	-0.538000|-0.538000	0.04264|0.04264	GCG|CGA		0.428	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699	
NTNG1	22854	broad.mit.edu	37	1	107979322	107979322	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:107979322C>T	ENST00000370068.1	+	7	2137	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	NTNG1_ENST00000370073.2_Missense_Mutation_p.R431C|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.R431C|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.R397C|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	431	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.R431C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AATCCATGATCGTTGTAATGG	0.473																																					p.R431C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1291T	1						.						168.0	144.0	151.0					1																	107979322		1568	3582	5150	107780845	SO:0001583	missense	22854	exon7			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1291C>T	1.37:g.107979322C>T	ENSP00000359085:p.Arg431Cys		107780845	NM_001113226	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489584	0.84962	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370061;ENST00000370064;ENST00000370062;ENST00000370068	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	6.17	6.17	0.99709	EGF-like, laminin (3);	0.000000	0.64402	D	0.000007	T	0.80121	0.4565	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.63957	0.892;0.92	T	0.79610	-0.1732	10	0.48119	T	0.1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	397;431	B4DKF0;Q9Y2I2	.;NTNG1_HUMAN	C	431;431;397;234;178;431	ENSP00000359090:R431C;ENSP00000440561:R431C;ENSP00000359078:R397C;ENSP00000359085:R431C	ENSP00000359078:R397C	R	+	1	0	NTNG1	107780845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.481000	0.81124	2.941000	0.99782	0.655000	0.94253	CGT		0.473	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
VAV3	10451	broad.mit.edu	37	1	108507455	108507455	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:108507455G>T	ENST00000370056.4	-	1	311	c.37C>A	c.(37-39)Cat>Aat	p.H13N	VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000371846.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.H13N	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	13	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.H13N(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ACCTTGCAATGGATGAGCCAC	0.716																																					p.H13N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37A	1						.						56.0	45.0	49.0					1																	108507455		2203	4300	6503	108308978	SO:0001583	missense	10451	exon1			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.37C>A	1.37:g.108507455G>T	ENSP00000359073:p.His13Asn		108308978	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	8.273	0.813768	0.16537	.	.	ENSG00000134215	ENST00000370056;ENST00000527011	T;T	0.58060	0.36;0.36	4.77	4.77	0.60923	Calponin homology domain (5);	0.266237	0.34362	N	0.004027	T	0.10078	0.0247	N	0.00926	-1.1	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.11743	-1.0575	10	0.24483	T	0.36	.	10.6438	0.45608	0.0:0.0:0.6968:0.3032	.	13;13;13	B7ZLR1;E9PQ97;Q9UKW4	.;.;VAV3_HUMAN	N	13	ENSP00000359073:H13N;ENSP00000432540:H13N	ENSP00000359073:H13N	H	-	1	0	VAV3	108308978	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.369000	0.34227	2.228000	0.72767	0.456000	0.33151	CAT		0.716	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
SLC25A24	29957	broad.mit.edu	37	1	108691003	108691003	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:108691003C>A	ENST00000565488.1	-	7	1047	c.828G>T	c.(826-828)aaG>aaT	p.K276N	SLC25A24_ENST00000370041.4_Missense_Mutation_p.K257N	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	276					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.K257N(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TAAGTAACTTCTTGTACTGTA	0.388																																					p.K276N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G828T	1						.						140.0	129.0	132.0					1																	108691003		2203	4300	6503	108492526	SO:0001583	missense	29957	exon7			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.828G>T	1.37:g.108691003C>A	ENSP00000457733:p.Lys276Asn		108492526	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608778	0.66558	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	D	0.83755	-1.76	5.83	5.83	0.93111	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91883	0.5517	10	0.87932	D	0	-31.0486	17.2898	0.87152	0.0:1.0:0.0:0.0	.	276;257	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	N	276;257	ENSP00000359058:K257N	ENSP00000264128:K276N	K	-	3	2	SLC25A24	108492526	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	2.375000	0.44283	2.770000	0.95276	0.655000	0.94253	AAG		0.388	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
SLC25A24	29957	broad.mit.edu	37	1	108697624	108697624	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:108697624T>G	ENST00000565488.1	-	6	1022	c.803A>C	c.(802-804)aAa>aCa	p.K268T	SLC25A24_ENST00000370041.4_Missense_Mutation_p.K249T	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	268					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.K249T(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCCAGAATTTAACAGCTGT	0.383																																					p.K268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803C	1						.						122.0	116.0	118.0					1																	108697624		2203	4300	6503	108499147	SO:0001583	missense	29957	exon6			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.803A>C	1.37:g.108697624T>G	ENSP00000457733:p.Lys268Thr		108499147	NM_013386	B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641367	0.87859	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.78924	-1.22	5.59	5.59	0.84812	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	D	0.86411	0.1748	10	0.87932	D	0	-26.5396	14.9397	0.70983	0.0:0.0:0.0:1.0	.	268;249	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	T	268;249	ENSP00000359058:K249T	ENSP00000264128:K268T	K	-	2	0	SLC25A24	108499147	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.967000	0.87967	2.121000	0.65114	0.397000	0.26171	AAA		0.383	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386	
AKNAD1	254268	broad.mit.edu	37	1	109366200	109366200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109366200C>A	ENST00000370001.3	-	12	2315	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E653*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E683*|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000357393.4_Nonsense_Mutation_p.E390*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	683						cytoplasm (GO:0005737)		p.E683*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTAGTTGGTTCTTTCCTGCAG	0.473																																					p.E683X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2047T	1						.						128.0	110.0	116.0					1																	109366200		2203	4300	6503	109167723	SO:0001587	stop_gained	254268	exon12			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2047G>T	1.37:g.109366200C>A	ENSP00000359018:p.Glu683*		109167723	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578103	0.45902	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	.	.	.	4.34	1.4	0.22301	.	1.190400	0.06206	N	0.684196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.0052	4.4143	0.11448	0.0:0.6107:0.1862:0.2031	.	.	.	.	X	683;390;653;683	.	ENSP00000349968:E390X	E	-	1	0	AKNAD1	109167723	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.633000	0.24598	0.338000	0.23692	0.561000	0.74099	GAA		0.473	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
AKNAD1	254268	broad.mit.edu	37	1	109391427	109391427	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109391427A>G	ENST00000370001.3	-	5	1460	c.1192T>C	c.(1192-1194)Ttt>Ctt	p.F398L	AKNAD1_ENST00000369994.1_Missense_Mutation_p.F398L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.F398L|AKNAD1_ENST00000357393.4_Missense_Mutation_p.F105L	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	398						cytoplasm (GO:0005737)		p.F398L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTTTTGGAAAATTCTTGTACC	0.308																																					p.F398L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1192C	1						.						99.0	116.0	111.0					1																	109391427		2203	4297	6500	109192950	SO:0001583	missense	254268	exon5			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1192T>C	1.37:g.109391427A>G	ENSP00000359018:p.Phe398Leu		109192950	NM_152763	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778217	0.70107	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.45	4.31	0.51392	.	0.170974	0.42682	D	0.000676	T	0.30572	0.0769	N	0.24115	0.695	0.29914	N	0.823358	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.10245	-1.0638	10	0.66056	D	0.02	-23.9991	10.3672	0.44030	0.9204:0.0:0.0796:0.0	.	105;398	B4DET8;Q5T1N1	.;AKND1_HUMAN	L	398;105;398;398	ENSP00000359018:F398L;ENSP00000349968:F105L;ENSP00000359011:F398L;ENSP00000359012:F398L	ENSP00000349968:F105L	F	-	1	0	AKNAD1	109192950	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.686000	0.54685	2.193000	0.70182	0.533000	0.62120	TTT		0.308	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
C1orf127	148345	broad.mit.edu	37	1	11008835	11008835	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11008835G>T	ENST00000377008.4	-	11	1302	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	C1orf127_ENST00000377004.4_Missense_Mutation_p.L453I			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	286	Pro-rich.							p.L286I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACTCTGGGGAGAATGGAGGCA	0.612																																					p.L453I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1357A	1						.						52.0	61.0	58.0					1																	11008835		2202	4300	6502	10931422	SO:0001583	missense	148345	exon12			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.856C>A	1.37:g.11008835G>T	ENSP00000366207:p.Leu286Ile		10931422	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.827|9.827	1.187375|1.187375	0.21870|0.21870	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.25250	.|1.81;1.81	4.64|4.64	-3.99|-3.99	0.04069|0.04069	.|.	.|1.271750	.|0.05547	.|N	.|0.566773	T|T	0.09862|0.09862	0.0242|0.0242	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.11329	.|0.006;0.006;0.006	T|T	0.24476|0.24476	-1.0159|-1.0159	5|10	.|0.19590	.|T	.|0.45	0.0448|0.0448	1.785|1.785	0.03040|0.03040	0.232:0.2624:0.3586:0.147|0.232:0.2624:0.3586:0.147	.|.	.|304;278;286	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	L|I	287;404|453;286	.|ENSP00000366203:L453I;ENSP00000366207:L286I	.|ENSP00000366203:L453I	F|L	-|-	3|1	2|0	C1orf127|C1orf127	10931422|10931422	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.527000|-0.527000	0.06200|0.06200	-0.695000|-0.695000	0.05105|0.05105	-0.490000|-0.490000	0.04691|0.04691	TTC|CTC		0.612	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
CLCC1	23155	broad.mit.edu	37	1	109486195	109486195	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109486195C>T	ENST00000369971.2	-	6	733	c.604G>A	c.(604-606)Gag>Aag	p.E202K	CLCC1_ENST00000415331.1_Missense_Mutation_p.E152K|CLCC1_ENST00000356970.2_Missense_Mutation_p.E202K|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.E152K|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000369976.1_Missense_Mutation_p.E202K|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000482889.1_5'UTR	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	202						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)	p.E152K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GTCCACAGCTCAGTAGCCACT	0.393																																					p.E202K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604A	1						.						93.0	99.0	97.0					1																	109486195		2203	4300	6503	109287718	SO:0001583	missense	23155	exon6			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.604G>A	1.37:g.109486195C>T	ENSP00000358988:p.Glu202Lys		109287718	NM_001048210	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096999	0.76870	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369976;ENST00000369970	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.26	4.34	0.51931	.	0.218442	0.47455	D	0.000229	T	0.62612	0.2442	M	0.79475	2.455	0.80722	D	1	P;P	0.52842	0.956;0.955	P;P	0.59546	0.859;0.759	T	0.70450	-0.4868	10	0.72032	D	0.01	-28.1997	15.808	0.78531	0.0:0.8632:0.1368:0.0	.	152;202	Q96S66-2;Q96S66	.;CLCC1_HUMAN	K	202;202;152;202;152	ENSP00000349456:E202K;ENSP00000358988:E202K;ENSP00000411591:E152K;ENSP00000358993:E202K;ENSP00000358987:E152K	ENSP00000349456:E202K	E	-	1	0	CLCC1	109287718	0.577000	0.26708	0.920000	0.36463	0.739000	0.42172	1.645000	0.37238	1.319000	0.45190	0.591000	0.81541	GAG		0.393	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127	
C1orf127	148345	broad.mit.edu	37	1	11017789	11017789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11017789G>A	ENST00000377008.4	-	7	576	c.130C>T	c.(130-132)Cga>Tga	p.R44*	C1orf127_ENST00000377004.4_Nonsense_Mutation_p.R193*			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	44								p.R44*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCTCCCCTCGAAGGGACAGC	0.577																																					p.R193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C577T	1						.						85.0	82.0	83.0					1																	11017789		2203	4300	6503	10940376	SO:0001587	stop_gained	148345	exon7			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.130C>T	1.37:g.11017789G>A	ENSP00000366207:p.Arg44*		10940376	NM_001170754	A0AVG8|A6NKM7|Q5VXJ2	Nonsense_Mutation	SNP	ENST00000377008.4	37		.	.	.	.	.	.	.	.	.	.	G	36	5.669604	0.96754	.	.	ENSG00000175262	ENST00000377004;ENST00000377008	.	.	.	5.35	3.45	0.39498	.	0.311945	0.17743	N	0.163493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2661	6.7824	0.23654	0.0901:0.0:0.7357:0.1741	.	.	.	.	X	193;44	.	ENSP00000366203:R193X	R	-	1	2	C1orf127	10940376	0.005000	0.15991	0.493000	0.27502	0.996000	0.88848	0.269000	0.18589	0.612000	0.30071	0.655000	0.94253	CGA		0.577	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507	
WDR47	22911	broad.mit.edu	37	1	109524430	109524430	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109524430C>A	ENST00000369962.3	-	13	2545	c.2323G>T	c.(2323-2325)Gat>Tat	p.D775Y	WDR47_ENST00000369965.4_Missense_Mutation_p.D776Y|WDR47_ENST00000357672.3_Missense_Mutation_p.D747Y|WDR47_ENST00000400794.3_Missense_Mutation_p.D783Y|WDR47_ENST00000361054.3_Missense_Mutation_p.D747Y			O94967	WDR47_HUMAN	WD repeat domain 47	775					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.D776Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ACAGTCTTATCTTGGGAACCA	0.368																																					p.D776Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2326T	1						.						111.0	110.0	110.0					1																	109524430		2203	4300	6503	109325953	SO:0001583	missense	22911	exon13			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2323G>T	1.37:g.109524430C>A	ENSP00000358979:p.Asp775Tyr		109325953	NM_014969	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667915	0.88348	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97241	0.9098	H	0.99273	4.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99029	1.0820	10	0.87932	D	0	-13.5098	19.1641	0.93546	0.0:1.0:0.0:0.0	.	747;783;775;776	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	Y	783;775;747;776;747	ENSP00000383599:D783Y;ENSP00000358979:D775Y;ENSP00000354339:D747Y;ENSP00000358982:D776Y;ENSP00000350301:D747Y	ENSP00000350301:D747Y	D	-	1	0	WDR47	109325953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.532000	0.85374	0.591000	0.81541	GAT		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
C1orf194	127003	broad.mit.edu	37	1	109650547	109650547	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109650547G>A	ENST00000369948.3	-	2	269	c.194C>T	c.(193-195)cCc>cTc	p.P65L	C1orf194_ENST00000369949.4_Missense_Mutation_p.P53L|C1orf194_ENST00000369945.3_Intron			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	65								p.P53L(1)		large_intestine(2)|lung(2)|ovary(2)	6						AGGTACCTCGGGATCAAAATA	0.488																																					p.P53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	1						.						89.0	84.0	86.0					1																	109650547		1568	3582	5150	109452070	SO:0001583	missense	127003	exon2				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.194C>T	1.37:g.109650547G>A	ENSP00000358964:p.Pro65Leu		109452070	NM_001122961	Q5T5A3	Missense_Mutation	SNP	ENST00000369948.3	37		.	.	.	.	.	.	.	.	.	.	g	3.869	-0.028333	0.07589	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	3.93	0.882	0.19172	.	0.649942	0.13547	N	0.379773	T	0.18173	0.0436	M	0.74647	2.275	0.09310	N	1	P;B	0.36535	0.557;0.192	B;B	0.31101	0.124;0.099	T	0.15009	-1.0452	9	0.87932	D	0	-8.4247	4.3693	0.11239	0.2172:0.1846:0.5982:0.0	.	53;65	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	L	53;65	.	ENSP00000358964:P65L	P	-	2	0	C1orf194	109452070	0.003000	0.15002	0.000000	0.03702	0.020000	0.10135	1.247000	0.32815	0.073000	0.16731	-0.776000	0.03382	CCC		0.488	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961	
KIAA1324	57535	broad.mit.edu	37	1	109707313	109707313	+	Splice_Site	SNP	C	C	T	rs138658561		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109707313C>T	ENST00000369939.3	+	3	650	c.467C>T	c.(466-468)tCg>tTg	p.S156L	KIAA1324_ENST00000529753.1_Splice_Site_p.S156L	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	156					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.S156L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AACTGTACTTCGTGAGTCTGC	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		9269	0.0		0.0	False		,,,				2504	0.0				p.S156L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	1						.	C	LEU/SER	0,4406		0,0,2203	76.0	56.0	63.0		467	-1.5	0.6	1	dbSNP_134	63	4,8596	3.7+/-12.6	0,4,4296	yes	missense-near-splice	KIAA1324	NM_020775.3	145	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	156/1014	109707313	4,13002	2203	4300	6503	109508836	SO:0001630	splice_region_variant	57535	exon3			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.467+1C>T	1.37:g.109707313C>T			109508836	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.05	3.013919	0.54468	0.0	4.65E-4	ENSG00000116299	ENST00000531664;ENST00000369939;ENST00000457623;ENST00000529753	T;T;T;T	0.43688	1.56;0.94;0.94;0.94	5.92	-1.51	0.08664	.	1.029680	0.07659	N	0.933379	T	0.12347	0.0300	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.10296	0.003;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.37911	-0.9685	10	0.27082	T	0.32	0.3412	12.3139	0.54944	0.0:0.3531:0.0:0.6469	.	156;156;156;156	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	L	156	ENSP00000431349:S156L;ENSP00000358955:S156L;ENSP00000393964:S156L;ENSP00000434595:S156L	ENSP00000358955:S156L	S	+	2	0	KIAA1324	109508836	0.149000	0.22717	0.577000	0.28562	0.940000	0.58332	0.004000	0.13106	-0.313000	0.08728	0.561000	0.74099	TCG		0.637	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	Missense_Mutation
KIAA1324	57535	broad.mit.edu	37	1	109743433	109743433	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109743433G>A	ENST00000369939.3	+	21	3067	c.2884G>A	c.(2884-2886)Gcc>Acc	p.A962T	KIAA1324_ENST00000529753.1_Missense_Mutation_p.A875T|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	962					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.A962T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGACAGCTGCGCCATCATGGA	0.488											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A962T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2884A	1						.						106.0	95.0	99.0					1																	109743433		2203	4300	6503	109544956	SO:0001583	missense	57535	exon21			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2884G>A	1.37:g.109743433G>A	ENSP00000358955:p.Ala962Thr	1422	109544956	NM_020775	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852699	0.97030	.	.	ENSG00000116299	ENST00000369939;ENST00000529753	T;T	0.19806	2.12;2.14	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.31888	-0.9927	10	0.87932	D	0	-31.3648	19.0678	0.93119	0.0:0.0:1.0:0.0	.	962;875;962;962	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	962;875	ENSP00000358955:A962T;ENSP00000434595:A875T	ENSP00000358955:A962T	A	+	1	0	KIAA1324	109544956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.732000	0.98816	2.813000	0.96785	0.655000	0.94253	GCC		0.488	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
SARS	6301	broad.mit.edu	37	1	109780386	109780386	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109780386C>T	ENST00000234677.2	+	11	1496	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000369923.4_Missense_Mutation_p.A496V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	474					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.A474V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GTGAAGCCTGCGCCCATTGAG	0.517																																					p.A474V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421T	1						.						128.0	116.0	120.0					1																	109780386		2203	4300	6503	109581909	SO:0001583	missense	6301	exon11			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1421C>T	1.37:g.109780386C>T	ENSP00000234677:p.Ala474Val		109581909	NM_006513	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	.	.	.	.	.	.	.	.	.	.	N	19.95	3.920881	0.73213	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.78126	-1.1;-1.15	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	L	0.51853	1.615	0.80722	D	1	D;P;D;P	0.61697	0.99;0.95;0.973;0.95	P;P;P;B	0.45506	0.483;0.471;0.471;0.353	T	0.69476	-0.5135	10	0.40728	T	0.16	-18.9032	15.1714	0.72875	0.0:0.9319:0.0:0.0681	.	471;474;496;474	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	V	474;496	ENSP00000234677:A474V;ENSP00000358939:A496V	ENSP00000234677:A474V	A	+	2	0	SARS	109581909	1.000000	0.71417	0.847000	0.33407	0.982000	0.71751	7.098000	0.76974	1.586000	0.49944	0.585000	0.79938	GCG		0.517	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513	
CELSR2	1952	broad.mit.edu	37	1	109803856	109803856	+	Missense_Mutation	SNP	G	G	A	rs377639803		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109803856G>A	ENST00000271332.3	+	3	4212	c.4151G>A	c.(4150-4152)cGc>cAc	p.R1384H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1384	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1384H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGCGGCCTGCGCCAGCGTTTC	0.632																																					p.R1384H	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4151A	1						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	58.0	58.0		4151	4.8	1.0	1		58	0,8600		0,0,4300	no	missense	CELSR2	NM_001408.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1384/2924	109803856	1,13005	2203	4300	6503	109605379	SO:0001583	missense	1952	exon3			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4151G>A	1.37:g.109803856G>A	ENSP00000271332:p.Arg1384His		109605379	NM_001408	Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591387	0.96590	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.79554	-1.28	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.89563	0.6751	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90651	0.4582	9	0.62326	D	0.03	.	17.9928	0.89174	0.0:0.0:1.0:0.0	.	1384	Q9HCU4	CELR2_HUMAN	H	1384	ENSP00000271332:R1384H	ENSP00000271332:R1384H	R	+	2	0	CELSR2	109605379	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.635000	0.98437	2.478000	0.83669	0.561000	0.74099	CGC		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
CELSR2	1952	broad.mit.edu	37	1	109808788	109808788	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109808788C>T	ENST00000271332.3	+	15	6034	c.5973C>T	c.(5971-5973)ttC>ttT	p.F1991F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1991					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F1991F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACCCGCTTCGGGCTGCCTG	0.607																																					p.F1991F	NSCLC(158;1285 2011 34800 34852 42084)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5973T	1						.						72.0	64.0	67.0					1																	109808788		2203	4300	6503	109610311	SO:0001819	synonymous_variant	1952	exon15			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5973C>T	1.37:g.109808788C>T			109610311	NM_001408	Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
SORT1	6272	broad.mit.edu	37	1	109884689	109884689	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:109884689G>T	ENST00000256637.6	-	9	1113	c.1055C>A	c.(1054-1056)tCt>tAt	p.S352Y	SORT1_ENST00000538502.1_Missense_Mutation_p.S215Y	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	352					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.S352Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGCCAGAATAGAATAGAACTG	0.458																																					p.S352Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1055A	1						.						153.0	136.0	142.0					1																	109884689		2203	4300	6503	109686212	SO:0001583	missense	6272	exon9			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1055C>A	1.37:g.109884689G>T	ENSP00000256637:p.Ser352Tyr		109686212	NM_002959	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	g	17.81	3.480007	0.63849	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.29917	1.55;1.55	6.01	6.01	0.97437	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.97110	0.792;1.0	T	0.04065	-1.0980	10	0.02654	T	1	-16.0378	19.3162	0.94215	0.0:0.0:1.0:0.0	.	215;352	B4DWI3;Q99523	.;SORT_HUMAN	Y	352;215	ENSP00000256637:S352Y;ENSP00000438597:S215Y	ENSP00000256637:S352Y	S	-	2	0	SORT1	109686212	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	8.748000	0.91615	2.864000	0.98301	0.550000	0.68814	TCT		0.458	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959	
CYB561D1	284613	broad.mit.edu	37	1	110038434	110038434	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110038434C>T	ENST00000420578.2	+	3	283	c.243C>T	c.(241-243)ttC>ttT	p.F81F	CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000393709.3_Silent_p.F24F|CYB561D1_ENST00000533024.1_Missense_Mutation_p.S37F|CYB561D1_ENST00000528785.1_Silent_p.F81F|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000310611.4_Missense_Mutation_p.S116F|CYB561D1_ENST00000369868.3_Silent_p.F103F			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	81	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.F81F(1)		breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACTCCCTGTTCTTCTTCTGCT	0.567																																					p.S116F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C347T	1						.						196.0	194.0	195.0					1																	110038434		2203	4300	6503	109839957	SO:0001819	synonymous_variant	284613	exon4			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.243C>T	1.37:g.110038434C>T			109839957	NM_001134403	B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Silent	SNP	ENST00000420578.2	37	CCDS800.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805136	0.50315	.	.	ENSG00000174151	ENST00000533024;ENST00000310611	.	.	.	5.25	4.33	0.51752	.	.	.	.	.	T	0.36054	0.0953	.	.	.	0.80722	D	1	B	0.33448	0.412	B	0.32583	0.148	T	0.46665	-0.9175	7	0.87932	D	0	-28.976	11.5206	0.50549	0.0:0.9149:0.0:0.0851	.	116	Q8N8Q1-2	.	F	37;116	.	ENSP00000309324:S116F	S	+	2	0	CYB561D1	109839957	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.938000	0.40203	1.418000	0.47098	0.555000	0.69702	TCT		0.567	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	
AMIGO1	57463	broad.mit.edu	37	1	110050472	110050472	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110050472C>T	ENST00000369864.4	-	2	1412	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	AMIGO1_ENST00000369862.1_Missense_Mutation_p.E355K					adhesion molecule with Ig-like domain 1									p.E355K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACTTTCAATTCCACAGACAGT	0.507																																					p.E355K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1063A	1						.						169.0	144.0	152.0					1																	110050472		2203	4300	6503	109851995	SO:0001583	missense	57463	exon2				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1063G>A	1.37:g.110050472C>T	ENSP00000358880:p.Glu355Lys		109851995	NM_020703		Missense_Mutation	SNP	ENST00000369864.4	37	CCDS30795.1	.	.	.	.	.	.	.	.	.	.	C	3.057	-0.194190	0.06259	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.65178	-0.14;-0.14	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.318739	0.25294	N	0.031701	T	0.32071	0.0817	L	0.31752	0.955	0.35868	D	0.828022	P	0.41345	0.746	B	0.37144	0.242	T	0.27971	-1.0058	10	0.31617	T	0.26	-13.3151	9.0964	0.36642	0.0:0.7756:0.1486:0.0758	.	355	Q86WK6	AMGO1_HUMAN	K	355	ENSP00000358880:E355K;ENSP00000358878:E355K	ENSP00000358878:E355K	E	-	1	0	AMIGO1	109851995	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-0.311000	0.08124	2.941000	0.99782	0.655000	0.94253	GAA		0.507	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032247.1	NM_020703	
GNAT2	2780	broad.mit.edu	37	1	110148949	110148949	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110148949C>T	ENST00000351050.3	-	5	757	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	191					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.V191I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		AAGTCTTTGACGGAAAACTTG	0.488																																					p.V191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	1						.						145.0	131.0	136.0					1																	110148949		2203	4300	6503	109950472	SO:0001583	missense	2780	exon5			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.571G>A	1.37:g.110148949C>T	ENSP00000251337:p.Val191Ile		109950472	NM_005272		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214350	0.58452	.	.	ENSG00000134183	ENST00000351050	D	0.88818	-2.43	5.05	4.13	0.48395	.	0.185160	0.49305	N	0.000153	T	0.62405	0.2425	N	0.05487	-0.04	0.33532	D	0.593706	B	0.25235	0.121	B	0.20184	0.028	T	0.59166	-0.7505	10	0.40728	T	0.16	.	8.7189	0.34428	0.1493:0.7736:0.0:0.0771	.	191	P19087	GNAT2_HUMAN	I	191	ENSP00000251337:V191I	ENSP00000251337:V191I	V	-	1	0	GNAT2	109950472	0.986000	0.35501	0.959000	0.39883	0.986000	0.74619	2.723000	0.47277	1.496000	0.48567	0.655000	0.94253	GTC		0.488	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272	
GSTM3	2947	broad.mit.edu	37	1	110279777	110279777	+	Silent	SNP	G	G	A	rs561954445		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110279777G>A	ENST00000540225.1	-	9	904	c.594C>T	c.(592-594)atC>atT	p.I198I	GSTM3_ENST00000361066.2_Silent_p.I198I|GSTM3_ENST00000256594.3_Silent_p.I198I|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	198	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.I198I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	AGTAGGCAGCGATTTTCTCCA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19336	0.0		0.001	False		,,,				2504	0.0				p.I198I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	1						.						103.0	95.0	97.0					1																	110279777		2203	4300	6503	110081300	SO:0001819	synonymous_variant	2947	exon9			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.594C>T	1.37:g.110279777G>A			110081300	NM_000849	O60550|Q96HA3	Silent	SNP	ENST00000540225.1	37	CCDS812.1																																																																																				0.483	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849	
MASP2	10747	broad.mit.edu	37	1	11086966	11086966	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11086966G>A	ENST00000400897.3	-	11	2052	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	679	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.I679I(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTATGTTCTCGATCCAGGGAA	0.438																																					p.I679I	GBM(35;611 746 20780 22741 36496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2037T	1						.						93.0	98.0	97.0					1																	11086966		2203	4300	6503	11009553	SO:0001819	synonymous_variant	10747	exon11			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.2037C>T	1.37:g.11086966G>A			11009553	NM_006610	A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	CCDS123.1																																																																																				0.438	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
GSTM3	2947	broad.mit.edu	37	1	110280727	110280727	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110280727A>G	ENST00000540225.1	-	6	668	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	GSTM3_ENST00000361066.2_Missense_Mutation_p.Y120H|GSTM3_ENST00000256594.3_Missense_Mutation_p.Y120H|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	120	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.Y120H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCAGAGCTGTAACAGAGCCTT	0.443																																					p.Y120H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T358C	1						.						201.0	188.0	192.0					1																	110280727		2203	4300	6503	110082250	SO:0001583	missense	2947	exon6			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.358T>C	1.37:g.110280727A>G	ENSP00000444978:p.Tyr120His		110082250	NM_000849	O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	37	CCDS812.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103466	0.56291	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.04083	3.71;3.71;3.71	5.26	5.26	0.73747	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.110218	0.64402	D	0.000005	T	0.10465	0.0256	M	0.92507	3.315	0.80722	D	1	B;B;B	0.30605	0.287;0.258;0.287	B;B;B	0.39904	0.131;0.313;0.131	T	0.00183	-1.1945	10	0.66056	D	0.02	-2.1436	14.2885	0.66260	1.0:0.0:0.0:0.0	.	120;126;120	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	H	120	ENSP00000444978:Y120H;ENSP00000256594:Y120H;ENSP00000354357:Y120H	ENSP00000256594:Y120H	Y	-	1	0	GSTM3	110082250	1.000000	0.71417	0.997000	0.53966	0.091000	0.18340	5.835000	0.69368	2.198000	0.70561	0.460000	0.39030	TAC		0.443	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849	
UBL4B	164153	broad.mit.edu	37	1	110655384	110655384	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110655384G>T	ENST00000334179.3	+	1	323	c.228G>T	c.(226-228)aaG>aaT	p.K76N		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	76	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)		p.K76N(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCTTGGAGAAGATGGCGCTAA	0.577																																					p.K76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G228T	1						.						74.0	76.0	75.0					1																	110655384		2203	4300	6503	110456907	SO:0001583	missense	164153	exon1				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.228G>T	1.37:g.110655384G>T	ENSP00000334044:p.Lys76Asn		110456907	NM_203412		Missense_Mutation	SNP	ENST00000334179.3	37	CCDS820.1	.	.	.	.	.	.	.	.	.	.	G	3.900	-0.022134	0.07634	.	.	ENSG00000186150	ENST00000334179	T	0.41065	1.01	4.08	-1.93	0.07594	.	0.460781	0.23123	N	0.051667	T	0.11580	0.0282	M	0.63428	1.95	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	T	0.23119	-1.0197	10	0.27785	T	0.31	-21.4569	3.1919	0.06620	0.0892:0.138:0.3052:0.4676	.	76	Q8N7F7	UBL4B_HUMAN	N	76	ENSP00000334044:K76N	ENSP00000334044:K76N	K	+	3	2	UBL4B	110456907	0.386000	0.25180	0.000000	0.03702	0.011000	0.07611	0.516000	0.22817	-0.681000	0.05204	-0.397000	0.06425	AAG		0.577	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412	
SLC6A17	388662	broad.mit.edu	37	1	110738257	110738257	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110738257C>T	ENST00000331565.4	+	10	2027	c.1542C>T	c.(1540-1542)cgC>cgT	p.R514R		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	514					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.F511_R514del(1)|p.R514R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTCCAGCGCTCCGGAAACT	0.577																																					p.R514R												.	.	2	Substitution - coding silent(1)|Deletion - In frame(1)	ovary(1)|large_intestine(1)	c.C1542T	1						.						106.0	90.0	96.0					1																	110738257		2203	4300	6503	110539780	SO:0001819	synonymous_variant	388662	exon10				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1542C>T	1.37:g.110738257C>T			110539780	NM_001010898	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	ENST00000331565.4	37	CCDS30799.1																																																																																				0.577	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280	
RBM15	64783	broad.mit.edu	37	1	110884473	110884473	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110884473C>A	ENST00000369784.3	+	1	3346	c.2446C>A	c.(2446-2448)Ctt>Att	p.L816I	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.L816I|RBM15_ENST00000487146.2_Missense_Mutation_p.L816I	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	816	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L816I(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCTAGTAGTCTTCTTGTGGA	0.517			T	MKL1	acute megakaryocytic leukemia																																p.L816I			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2446A	1						.						76.0	75.0	75.0					1																	110884473		2203	4300	6503	110685996	SO:0001583	missense	64783	exon1			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2446C>A	1.37:g.110884473C>A	ENSP00000358799:p.Leu816Ile		110685996	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629487	0.67015	.	.	ENSG00000162775	ENST00000369784	T	0.24151	1.87	5.25	5.25	0.73442	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.360742	0.20188	N	0.097374	T	0.40094	0.1103	M	0.69823	2.125	0.58432	D	0.999992	D;D	0.76494	0.996;0.999	D;D	0.79108	0.992;0.976	T	0.24764	-1.0151	10	0.59425	D	0.04	-8.3374	12.2148	0.54400	0.0:0.9214:0.0:0.0786	.	816;816	Q96T37-3;Q96T37	.;RBM15_HUMAN	I	816	ENSP00000358799:L816I	ENSP00000358799:L816I	L	+	1	0	RBM15	110685996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.911000	0.63328	2.461000	0.83175	0.655000	0.94253	CTT		0.517	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
SLC16A4	9122	broad.mit.edu	37	1	110921737	110921737	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:110921737T>G	ENST00000369779.4	-	6	1017	c.768A>C	c.(766-768)caA>caC	p.Q256H	SLC16A4_ENST00000541986.1_Missense_Mutation_p.Q194H|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.Q146H|SLC16A4_ENST00000472422.2_Missense_Mutation_p.Q208H|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	256					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.Q256H(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CACTTTGATTTTGTGAGACTG	0.408																																					p.Q256H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A768C	1						.						209.0	198.0	202.0					1																	110921737		2203	4300	6503	110723260	SO:0001583	missense	9122	exon6			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.768A>C	1.37:g.110921737T>G	ENSP00000358794:p.Gln256His		110723260	NM_004696	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	CCDS823.1	.	.	.	.	.	.	.	.	.	.	t	15.30	2.794124	0.50102	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T	0.34667	2.46;2.33;1.85;2.46;1.35	5.81	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);	6.744210	0.00166	N	0.000000	T	0.22282	0.0537	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.52577	0.954;0.836;0.899;0.836	P;P;P;P	0.51229	0.663;0.564;0.537;0.587	T	0.38067	-0.9678	10	0.41790	T	0.15	.	10.7955	0.46457	0.1414:0.0:0.0:0.8586	.	146;194;208;256	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	H	256;208;146;194;23	ENSP00000358794:Q256H;ENSP00000432495:Q208H;ENSP00000394790:Q146H;ENSP00000446087:Q194H;ENSP00000435768:Q23H	ENSP00000358794:Q256H	Q	-	3	2	SLC16A4	110723260	0.251000	0.23961	0.460000	0.27093	0.349000	0.29174	1.834000	0.39171	1.004000	0.39156	0.529000	0.55759	CAA		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696	
KCNA10	3744	broad.mit.edu	37	1	111060350	111060350	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111060350G>A	ENST00000369771.2	-	1	1447	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	354					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.L354F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGGCGCGAGAGCTTGAAGATG	0.572																																					p.L354F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060T	1						.						123.0	118.0	120.0					1																	111060350		2203	4300	6503	110861873	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1060C>T	1.37:g.111060350G>A	ENSP00000358786:p.Leu354Phe		110861873	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225062	0.79576	.	.	ENSG00000143105	ENST00000369771	D	0.98150	-4.75	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99823	1.1048	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	354	Q16322	KCA10_HUMAN	F	354	ENSP00000358786:L354F	ENSP00000358786:L354F	L	-	1	0	KCNA10	110861873	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.865000	0.99609	2.676000	0.91093	0.558000	0.71614	CTC		0.572	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCNA10	3744	broad.mit.edu	37	1	111060956	111060956	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111060956G>A	ENST00000369771.2	-	1	841	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	152					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R152W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GCTGGGCGCCGAATTTTCCCA	0.458																																					p.R152W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454T	1						.						57.0	62.0	61.0					1																	111060956		2203	4300	6503	110862479	SO:0001583	missense	3744	exon1			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.454C>T	1.37:g.111060956G>A	ENSP00000358786:p.Arg152Trp		110862479	NM_005549		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954725	0.53293	.	.	ENSG00000143105	ENST00000369771	T	0.77877	-1.13	5.93	4.96	0.65561	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	M	0.92219	3.285	0.48975	D	0.999733	D	0.89917	1.0	D	0.97110	1.0	D	0.90223	0.4273	10	0.87932	D	0	.	12.7042	0.57051	0.0:0.0:0.7221:0.2778	.	152	Q16322	KCA10_HUMAN	W	152	ENSP00000358786:R152W	ENSP00000358786:R152W	R	-	1	2	KCNA10	110862479	0.991000	0.36638	1.000000	0.80357	0.983000	0.72400	1.911000	0.39937	2.797000	0.96272	0.655000	0.94253	CGG		0.458	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
KCNA2	3737	broad.mit.edu	37	1	111146260	111146260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111146260G>A	ENST00000485317.1	-	3	1818	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	KCNA2_ENST00000440270.1_Missense_Mutation_p.P382L|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.P382L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	382					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P382L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AATGGTAGTCGGAACCATGTC	0.527																																					p.P382L	Pancreas(18;568 735 10587 23710 36357)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1145T	1						.						67.0	68.0	67.0					1																	111146260		2203	4300	6503	110947783	SO:0001583	missense	3737	exon2			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1145C>T	1.37:g.111146260G>A	ENSP00000433109:p.Pro382Leu		110947783	NM_004974	Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	CCDS827.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836261	0.71373	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98777	-5.13;-5.13;-5.13	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99729	0.9894	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96987	0.9719	10	0.87932	D	0	.	20.0022	0.97423	0.0:0.0:1.0:0.0	.	382	P16389	KCNA2_HUMAN	L	382	ENSP00000433109:P382L;ENSP00000415257:P382L;ENSP00000314520:P382L	ENSP00000314520:P382L	P	-	2	0	KCNA2	110947783	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.807000	0.99171	2.738000	0.93877	0.655000	0.94253	CCG		0.527	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974	
KCNA3	3738	broad.mit.edu	37	1	111215852	111215852	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111215852G>A	ENST00000369769.2	-	1	1803	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	527					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.S527L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CATATACTCCGACTTACTCAG	0.532																																					p.S527L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1580T	1						.						101.0	93.0	96.0					1																	111215852		2203	4300	6503	111017375	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1580C>T	1.37:g.111215852G>A	ENSP00000358784:p.Ser527Leu		111017375	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561886	0.45590	.	.	ENSG00000177272	ENST00000369769	D	0.97089	-4.24	5.91	5.91	0.95273	.	0.325047	0.29791	U	0.011194	D	0.95705	0.8603	M	0.78456	2.415	0.80722	D	1	B	0.28291	0.206	B	0.20184	0.028	D	0.93609	0.6937	10	0.72032	D	0.01	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	527	P22001	KCNA3_HUMAN	L	527	ENSP00000358784:S527L	ENSP00000358784:S527L	S	-	2	0	KCNA3	111017375	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.261000	0.72509	2.794000	0.96219	0.655000	0.94253	TCG		0.532	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
MTOR	2475	broad.mit.edu	37	1	11189004	11189004	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11189004G>A	ENST00000361445.4	-	41	5795	c.5719C>T	c.(5719-5721)Ctc>Ttc	p.L1907F	MTOR_ENST00000495435.1_5'Flank|MTOR_ENST00000376838.1_Missense_Mutation_p.L112F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1907	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.L1907F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CATAAGGTGAGAACTCTGAAA	0.453																																					p.L1907F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5719T	1						.						63.0	59.0	60.0					1																	11189004		2203	4300	6503	11111591	SO:0001583	missense	2475	exon41			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5719C>T	1.37:g.11189004G>A	ENSP00000354558:p.Leu1907Phe		11111591	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301439	0.81136	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.82619	-1.63;-1.63	6.06	6.06	0.98353	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.94443	0.8212	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95030	0.8168	10	0.87932	D	0	-20.7712	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1907	P42345	MTOR_HUMAN	F	1907;112	ENSP00000354558:L1907F;ENSP00000366034:L112F	ENSP00000354558:L1907F	L	-	1	0	MTOR	11111591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.188000	0.77739	2.882000	0.98803	0.655000	0.94253	CTC		0.453	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
KCNA3	3738	broad.mit.edu	37	1	111216437	111216437	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111216437T>C	ENST00000369769.2	-	1	1218	c.995A>G	c.(994-996)gAc>gGc	p.D332G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	332					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.D332G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGCCACAATGTCGATCAGGTT	0.537																																					p.D332G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A995G	1						.						90.0	88.0	89.0					1																	111216437		2203	4300	6503	111017960	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.995A>G	1.37:g.111216437T>C	ENSP00000358784:p.Asp332Gly		111017960	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795482	0.70452	.	.	ENSG00000177272	ENST00000369769	D	0.99388	-5.81	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99750	0.9900	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96805	0.9592	10	0.87932	D	0	.	15.364	0.74507	0.0:0.0:0.0:1.0	.	332	P22001	KCNA3_HUMAN	G	332	ENSP00000358784:D332G	ENSP00000358784:D332G	D	-	2	0	KCNA3	111017960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.947000	0.87758	2.035000	0.60131	0.533000	0.62120	GAC		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
CD53	963	broad.mit.edu	37	1	111439344	111439344	+	Nonsense_Mutation	SNP	C	C	T	rs190729207		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111439344C>T	ENST00000271324.5	+	6	605	c.493C>T	c.(493-495)Cga>Tga	p.R165*	CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	165					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R165*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCCTCAGATCGAAAAGTGGA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		20158	0.0		0.001	False		,,,				2504	0.0				p.R165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C493T	1						.						204.0	188.0	193.0					1																	111439344		2203	4300	6503	111240867	SO:0001587	stop_gained	963	exon6			BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.493C>T	1.37:g.111439344C>T	ENSP00000271324:p.Arg165*		111240867	NM_000560	B2R905|Q5U0D6	Nonsense_Mutation	SNP	ENST00000271324.5	37	CCDS829.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.92	3.915771	0.73098	.	.	ENSG00000143119	ENST00000271324	.	.	.	5.13	0.562	0.17290	.	2.166060	0.02967	U	0.143950	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	0.9932	0.01461	0.1752:0.4163:0.185:0.2235	.	.	.	.	X	165	.	ENSP00000271324:R165X	R	+	1	2	CD53	111240867	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.669000	0.05262	0.118000	0.18165	0.491000	0.48974	CGA		0.443	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032931.1	NM_000560	
LRIF1	55791	broad.mit.edu	37	1	111490845	111490845	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111490845C>T	ENST00000369763.4	-	4	2436	c.2046G>A	c.(2044-2046)acG>acA	p.T682T	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Silent_p.T146T|LRIF1_ENST00000485275.2_Silent_p.T146T	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	682					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.T682T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCTGTGACTCGTGAGAATGT	0.398																																					p.T682T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2046A	1						.						230.0	215.0	220.0					1																	111490845		2203	4300	6503	111292368	SO:0001819	synonymous_variant	55791	exon4			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2046G>A	1.37:g.111490845C>T			111292368	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	CCDS30800.1																																																																																				0.398	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
LRIF1	55791	broad.mit.edu	37	1	111494469	111494469	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111494469C>T	ENST00000369763.4	-	2	1427	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.R346Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATTTTTGGATCGCGTCCCACT	0.353																																					p.R346Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	1						.						85.0	89.0	88.0					1																	111494469		2203	4300	6503	111295992	SO:0001583	missense	55791	exon2			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1037G>A	1.37:g.111494469C>T	ENSP00000358778:p.Arg346Gln		111295992	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.925972	0.00493	.	.	ENSG00000121931	ENST00000369763	T	0.25579	1.79	5.7	4.58	0.56647	.	0.187793	0.37761	N	0.001947	T	0.02119	0.0066	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42865	-0.9426	10	0.02654	T	1	-0.0041	9.8151	0.40846	0.0:0.0813:0.0:0.9187	.	346	Q5T3J3	LRIF1_HUMAN	Q	346	ENSP00000358778:R346Q	ENSP00000358778:R346Q	R	-	2	0	LRIF1	111295992	0.994000	0.37717	0.792000	0.32020	0.231000	0.25187	2.466000	0.45084	1.010000	0.39314	-0.312000	0.09012	CGA		0.353	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
LRIF1	55791	broad.mit.edu	37	1	111495081	111495081	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111495081A>C	ENST00000369763.4	-	2	815	c.425T>G	c.(424-426)aTt>aGt	p.I142S	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.I142S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GAGTCCATCAATTTTCACACC	0.378																																					p.I142S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T425G	1						.						81.0	85.0	83.0					1																	111495081		2203	4300	6503	111296604	SO:0001583	missense	55791	exon2			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.425T>G	1.37:g.111495081A>C	ENSP00000358778:p.Ile142Ser		111296604	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798627	0.31777	.	.	ENSG00000121931	ENST00000369763	T	0.26518	1.73	5.65	4.53	0.55603	.	0.489229	0.21086	N	0.080404	T	0.08802	0.0218	N	0.24115	0.695	0.80722	D	1	B	0.30281	0.275	B	0.30646	0.118	T	0.06716	-1.0811	10	0.66056	D	0.02	-2.7797	9.1215	0.36791	0.9145:0.0:0.0855:0.0	.	142	Q5T3J3	LRIF1_HUMAN	S	142	ENSP00000358778:I142S	ENSP00000358778:I142S	I	-	2	0	LRIF1	111296604	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.092000	0.41700	2.159000	0.67721	0.383000	0.25322	ATT		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
LRIF1	55791	broad.mit.edu	37	1	111495408	111495408	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111495408T>C	ENST00000369763.4	-	2	488	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_5'UTR|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.Q33R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GCCAATCGTCTGAACTACTTG	0.313																																					p.Q33R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98G	1						.						44.0	45.0	45.0					1																	111495408		2113	4175	6288	111296931	SO:0001583	missense	55791	exon2			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.98A>G	1.37:g.111495408T>C	ENSP00000358778:p.Gln33Arg		111296931	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806518	0.50421	.	.	ENSG00000121931	ENST00000369763	T	0.28069	1.63	5.52	4.38	0.52667	.	0.184853	0.39020	N	0.001487	T	0.21103	0.0508	L	0.27053	0.805	0.80722	D	1	D	0.55385	0.971	P	0.55455	0.776	T	0.03231	-1.1058	10	0.56958	D	0.05	0.232	10.6745	0.45778	0.0:0.0:0.1675:0.8325	.	33	Q5T3J3	LRIF1_HUMAN	R	33	ENSP00000358778:Q33R	ENSP00000358778:Q33R	Q	-	2	0	LRIF1	111296931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.545000	0.45769	0.923000	0.37045	0.383000	0.25322	CAG		0.313	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
CHI3L2	1117	broad.mit.edu	37	1	111773482	111773482	+	Silent	SNP	C	C	T	rs201031221		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111773482C>T	ENST00000445067.2	+	5	960	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369748.4_Silent_p.F63F|CHI3L2_ENST00000369744.2_Silent_p.F53F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	63					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.F63F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCTATTCATTCGCCAGCATCG	0.458																																					p.F63F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C189T	1						.						85.0	74.0	78.0					1																	111773482		2203	4300	6503	111575005	SO:0001819	synonymous_variant	1117	exon3			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.189C>T	1.37:g.111773482C>T			111575005	NM_004000	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Silent	SNP	ENST00000445067.2	37	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889849	0.17540	.	.	ENSG00000064886	ENST00000533831	.	.	.	4.09	-1.11	0.09840	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35699	-0.9778	4	.	.	.	-8.544	8.5256	0.33302	0.0:0.5371:0.0:0.4629	.	.	.	.	L	32	.	.	S	+	2	0	CHI3L2	111575005	0.001000	0.12720	0.009000	0.14445	0.867000	0.49689	-1.416000	0.02467	-0.442000	0.07190	-0.302000	0.09304	TCG		0.458	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	
CHIA	27159	broad.mit.edu	37	1	111854963	111854963	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111854963C>T	ENST00000369740.1	+	4	310	c.207C>T	c.(205-207)atC>atT	p.I69I	CHIA_ENST00000343320.6_Silent_p.I69I|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	69					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.I69I(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)		TCACCACCATCGAATGGAATG	0.498																																					p.I69I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207T	1						.						124.0	119.0	121.0					1																	111854963		1994	4162	6156	111656486	SO:0001819	synonymous_variant	27159	exon4			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.207C>T	1.37:g.111854963C>T			111656486	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	ENST00000369740.1	37	CCDS41368.1																																																																																				0.498	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		
OVGP1	5016	broad.mit.edu	37	1	111957804	111957804	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:111957804T>G	ENST00000369732.3	-	11	1374	c.1319A>C	c.(1318-1320)gAa>gCa	p.E440A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	440					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.E440A(1)|p.E504A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGTCATATTTTCACACTTTCC	0.502																																					p.E440A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1319C	1						.						88.0	86.0	87.0					1																	111957804		2203	4300	6503	111759327	SO:0001583	missense	5016	exon11			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1319A>C	1.37:g.111957804T>G	ENSP00000358747:p.Glu440Ala		111759327	NM_002557	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635643	0.29068	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04317	3.65	4.43	3.28	0.37604	.	1.667190	0.03414	N	0.205177	T	0.01940	0.0061	L	0.43923	1.385	0.09310	N	0.999995	B;B	0.25441	0.013;0.126	B;B	0.19946	0.008;0.027	T	0.41716	-0.9493	10	0.37606	T	0.19	-6.9208	8.148	0.31124	0.0:0.0:0.2043:0.7957	.	440;504	Q12889;Q59HH5	OVGP1_HUMAN;.	A	440;504;248	ENSP00000358747:E440A	ENSP00000358743:E504A	E	-	2	0	OVGP1	111759327	0.001000	0.12720	0.009000	0.14445	0.106000	0.19336	0.218000	0.17622	0.998000	0.38996	0.477000	0.44152	GAA		0.502	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
RAP1A	5906	broad.mit.edu	37	1	112240096	112240096	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:112240096G>A	ENST00000369709.3	+	4	339	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RAP1A_ENST00000356415.1_Missense_Mutation_p.E54K|RAP1A_ENST00000545460.1_Missense_Mutation_p.E54K|RAP1A_ENST00000436150.2_Missense_Mutation_p.E54K|RAP1A_ENST00000494982.1_3'UTR	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	54					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.E54K(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GTGTATGCTCGAAATCCTGGA	0.373																																					p.E54K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	1						.						180.0	184.0	183.0					1																	112240096		2203	4300	6503	112041619	SO:0001583	missense	5906	exon5			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.160G>A	1.37:g.112240096G>A	ENSP00000358723:p.Glu54Lys		112041619	NM_001010935	P10113	Missense_Mutation	SNP	ENST00000369709.3	37	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649568	0.87958	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.33	3.46	0.39613	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.88979	2.995	0.80722	D	1	B	0.33637	0.42	B	0.40636	0.335	T	0.79208	-0.1898	10	0.87932	D	0	.	11.6674	0.51381	0.1455:0.0:0.8545:0.0	.	54	P62834	RAP1A_HUMAN	K	54	ENSP00000348786:E54K;ENSP00000396741:E54K;ENSP00000358723:E54K;ENSP00000394318:E54K;ENSP00000443009:E54K	ENSP00000348786:E54K	E	+	1	0	RAP1A	112041619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	0.748000	0.32831	0.650000	0.86243	GAA		0.373	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884	
DDX20	11218	broad.mit.edu	37	1	112303389	112303389	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:112303389G>A	ENST00000369702.4	+	5	1362	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	248	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.E248K(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTTATCCCGAATTTTTGGC	0.378																																					p.E248K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	1						.						127.0	125.0	126.0					1																	112303389		2203	4300	6503	112104912	SO:0001583	missense	11218	exon5			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.742G>A	1.37:g.112303389G>A	ENSP00000358716:p.Glu248Lys		112104912	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637888	0.87760	.	.	ENSG00000064703	ENST00000369702	T	0.14516	2.5	4.97	4.97	0.65823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.10782	0.045	0.80722	D	1	P	0.42941	0.794	P	0.50192	0.634	T	0.34279	-0.9835	10	0.48119	T	0.1	-17.6876	18.1716	0.89747	0.0:0.0:1.0:0.0	.	248	Q9UHI6	DDX20_HUMAN	K	248	ENSP00000358716:E248K	ENSP00000358716:E248K	E	+	1	0	DDX20	112104912	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.278000	0.95766	2.461000	0.83175	0.491000	0.48974	GAA		0.378	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
KCND3	3752	broad.mit.edu	37	1	112323370	112323370	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:112323370G>A	ENST00000315987.2	-	4	1792	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	KCND3_ENST00000302127.4_Missense_Mutation_p.S438L|KCND3_ENST00000369697.1_Missense_Mutation_p.S438L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	438					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S438L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTATGCATTCGAACTGCCTGT	0.537																																					p.S438L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1313T	1						.						71.0	55.0	60.0					1																	112323370		2203	4300	6503	112124893	SO:0001583	missense	3752	exon4			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1313C>T	1.37:g.112323370G>A	ENSP00000319591:p.Ser438Leu		112124893	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438997	0.63067	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96913	-4.17;-4.17;-4.17	5.26	5.26	0.73747	.	0.111627	0.64402	D	0.000006	D	0.87613	0.6221	N	0.14661	0.345	0.80722	D	1	B;P	0.37731	0.283;0.607	B;B	0.26094	0.026;0.066	D	0.89543	0.3794	10	0.49607	T	0.09	.	18.4608	0.90737	0.0:0.0:1.0:0.0	.	438;438	Q14D71;Q9UK17	.;KCND3_HUMAN	L	438	ENSP00000358711:S438L;ENSP00000319591:S438L;ENSP00000306923:S438L	ENSP00000306923:S438L	S	-	2	0	KCND3	112124893	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.199000	0.95003	2.446000	0.82766	0.655000	0.94253	TCG		0.537	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
WNT2B	7482	broad.mit.edu	37	1	113057614	113057614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:113057614C>T	ENST00000369684.4	+	2	786	c.301C>T	c.(301-303)Cga>Tga	p.R101*	RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Nonsense_Mutation_p.R9*|WNT2B_ENST00000369686.5_Nonsense_Mutation_p.R82*	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	101					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R101R(1)|p.R101*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGGGTGCCCGAGAATGGAT	0.607																																					p.R82X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C244T	1						.						94.0	78.0	83.0					1																	113057614		2203	4300	6503	112859137	SO:0001587	stop_gained	7482	exon3			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.301C>T	1.37:g.113057614C>T	ENSP00000358698:p.Arg101*		112859137	NM_004185	O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Nonsense_Mutation	SNP	ENST00000369684.4	37	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295629	0.97449	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	.	.	.	5.3	5.3	0.74995	.	0.054643	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	11.9884	0.53161	0.2897:0.7103:0.0:0.0	.	.	.	.	X	9;82;101	.	ENSP00000256640:R9X	R	+	1	2	WNT2B	112859137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.417000	0.66423	2.474000	0.83562	0.561000	0.74099	CGA		0.607	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185	
MOV10	4343	broad.mit.edu	37	1	113240716	113240716	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:113240716G>A	ENST00000413052.2	+	15	2689	c.2299G>A	c.(2299-2301)Gcg>Acg	p.A767T	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.A767T|MOV10_ENST00000369644.1_Missense_Mutation_p.A711T|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.A767T	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	767					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A767T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTGCCGCTGGGCGGGCCTACC	0.612																																					p.A767T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2299A	1						.						77.0	73.0	75.0					1																	113240716		2203	4300	6503	113042239	SO:0001583	missense	4343	exon15			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2299G>A	1.37:g.113240716G>A	ENSP00000399797:p.Ala767Thr		113042239	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	CCDS853.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946601	0.53186	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.36	3.42	0.39159	.	0.255560	0.44483	D	0.000460	T	0.45498	0.1345	N	0.13235	0.315	0.80722	D	1	B	0.02656	0.0	B	0.16722	0.016	T	0.30794	-0.9966	10	0.19590	T	0.45	-14.3095	9.7835	0.40662	0.0:0.2874:0.564:0.1486	.	767	Q9HCE1	MOV10_HUMAN	T	767;767;711;767;705	ENSP00000399797:A767T;ENSP00000358659:A767T;ENSP00000358658:A711T;ENSP00000350028:A767T	ENSP00000350028:A767T	A	+	1	0	MOV10	113042239	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	4.676000	0.61627	0.609000	0.30018	0.556000	0.70494	GCG		0.612	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
MOV10	4343	broad.mit.edu	37	1	113241082	113241082	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:113241082C>T	ENST00000413052.2	+	16	2880	c.2490C>T	c.(2488-2490)atC>atT	p.I830I	RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Silent_p.I830I|MOV10_ENST00000369644.1_Silent_p.I774I|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.I830I	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	830					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.I830I(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGGCGTCATCTCCCCGTACC	0.602																																					p.I830I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2490T	1						.						49.0	43.0	45.0					1																	113241082		2203	4300	6503	113042605	SO:0001819	synonymous_variant	4343	exon16			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2490C>T	1.37:g.113241082C>T			113042605	NM_020963	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
SLC16A1	6566	broad.mit.edu	37	1	113456732	113456732	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:113456732G>A	ENST00000538576.1	-	5	2115	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	SLC16A1_ENST00000369626.3_Silent_p.V428V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	428					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.V428V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	TAATTAGGACGACGCCACATG	0.378																																					p.V428V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284T	1						.						122.0	115.0	117.0					1																	113456732		2203	4300	6503	113258255	SO:0001819	synonymous_variant	6566	exon5			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1284C>T	1.37:g.113456732G>A			113258255	NM_001166496	Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	CCDS858.1																																																																																				0.378	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051	
MAGI3	260425	broad.mit.edu	37	1	114201773	114201773	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114201773G>T	ENST00000307546.9	+	16	2776	c.2701G>T	c.(2701-2703)Gat>Tat	p.D901Y	MAGI3_ENST00000369615.1_Missense_Mutation_p.D901Y|MAGI3_ENST00000369617.4_Missense_Mutation_p.D926Y|MAGI3_ENST00000369611.4_Missense_Mutation_p.D901Y	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	926	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.D901Y(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGTTGGAGATCATATCTC	0.438																																					p.D901Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2701T	1						.						149.0	141.0	144.0					1																	114201773		2203	4300	6503	114003296	SO:0001583	missense	260425	exon16			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2701G>T	1.37:g.114201773G>T	ENSP00000304604:p.Asp901Tyr		114003296	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175987	0.94846	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92772	0.6233	10	0.87932	D	0	-18.455	20.8794	0.99867	0.0:0.0:1.0:0.0	.	901;901;926	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	Y	926;901;901;901	ENSP00000358630:D926Y;ENSP00000304604:D901Y;ENSP00000358628:D901Y;ENSP00000358624:D901Y	ENSP00000304604:D901Y	D	+	1	0	MAGI3	114003296	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GAT		0.438	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
MAGI3	260425	broad.mit.edu	37	1	114201835	114201835	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114201835G>T	ENST00000307546.9	+	16	2838	c.2763G>T	c.(2761-2763)caG>caT	p.Q921H	MAGI3_ENST00000369615.1_Missense_Mutation_p.Q921H|MAGI3_ENST00000369617.4_Missense_Mutation_p.Q946H|MAGI3_ENST00000369611.4_Missense_Mutation_p.Q921H	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	946	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.Q921H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATTGTTCAGCTGATCAAAG	0.498																																					p.Q921H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2763T	1						.						153.0	136.0	142.0					1																	114201835		2203	4300	6503	114003358	SO:0001583	missense	260425	exon16			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2763G>T	1.37:g.114201835G>T	ENSP00000304604:p.Gln921His		114003358	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812047	0.90707	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.35341	1.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.99	T	0.19679	-1.0298	10	0.62326	D	0.03	-21.1146	20.8794	0.99867	0.0:0.0:1.0:0.0	.	921;921;946	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	H	946;921;921;921	ENSP00000358630:Q946H;ENSP00000304604:Q921H;ENSP00000358628:Q921H;ENSP00000358624:Q921H	ENSP00000304604:Q921H	Q	+	3	2	MAGI3	114003358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.875000	0.56108	2.941000	0.99782	0.655000	0.94253	CAG		0.498	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
PHTF1	10745	broad.mit.edu	37	1	114253087	114253087	+	Missense_Mutation	SNP	G	G	A	rs572558913	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114253087G>A	ENST00000369604.1	-	11	1541	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.S353L|PHTF1_ENST00000369600.1_Missense_Mutation_p.S300L|PHTF1_ENST00000369596.2_Missense_Mutation_p.S300L|PHTF1_ENST00000369598.1_Missense_Mutation_p.S308L|PHTF1_ENST00000357783.2_Missense_Mutation_p.S353L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	353					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S353L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCACACCCGATCTAGAGCC	0.393													G|||	2	0.000399361	0.0	0.0	5008	,	,		15517	0.0		0.0	False		,,,				2504	0.002				p.S353L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058T	1						.						46.0	48.0	47.0					1																	114253087		2203	4300	6503	114054610	SO:0001583	missense	10745	exon10			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1058C>T	1.37:g.114253087G>A	ENSP00000358617:p.Ser353Leu		114054610	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.048909|4.048909	0.75846|0.75846	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.73|5.73	4.83|4.83	0.62350|0.62350	.|.	.|0.259361	.|0.38720	.|N	.|0.001590	T|T	0.41073|0.41073	0.1143|0.1143	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.67145	.|0.931;0.996;0.99	.|B;P;P	.|0.52109	.|0.356;0.69;0.664	T|T	0.35992|0.35992	-0.9766|-0.9766	5|9	.|0.42905	.|T	.|0.14	-10.0345|-10.0345	15.0254|15.0254	0.71667|0.71667	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	.|353;108;353	.|Q9UMS5;Q5TCR1;Q9UMS5-2	.|PHTF1_HUMAN;.;.	W|L	109|308;353;300;308;300;353;353	.|.	.|ENSP00000350428:S353L	R|S	-|-	1|2	2|0	PHTF1|PHTF1	114054610|114054610	1.000000|1.000000	0.71417|0.71417	0.409000|0.409000	0.26459|0.26459	0.623000|0.623000	0.37688|0.37688	4.659000|4.659000	0.61504|0.61504	1.452000|1.452000	0.47756|0.47756	-0.126000|-0.126000	0.14955|0.14955	CGG|TCG		0.393	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
PHTF1	10745	broad.mit.edu	37	1	114267407	114267407	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114267407A>G	ENST00000369604.1	-	7	1080	c.597T>C	c.(595-597)ggT>ggC	p.G199G	PHTF1_ENST00000447664.2_Silent_p.G199G|PHTF1_ENST00000393357.2_Silent_p.G199G|PHTF1_ENST00000369600.1_Silent_p.G146G|PHTF1_ENST00000369596.2_Silent_p.G146G|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000357783.2_Silent_p.G199G			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	199					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G199G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCCAAAAACCACCAATAA	0.383																																					p.G199G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T597C	1						.						87.0	90.0	89.0					1																	114267407		2203	4300	6503	114068930	SO:0001819	synonymous_variant	10745	exon6			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.597T>C	1.37:g.114267407A>G			114068930	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	ENST00000369604.1	37	CCDS861.1																																																																																				0.383	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
PTPN22	26191	broad.mit.edu	37	1	114375748	114375748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114375748G>A	ENST00000359785.5	-	16	2173	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PTPN22_ENST00000525799.1_Nonsense_Mutation_p.R553*|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.R680*|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.R436*|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Nonsense_Mutation_p.R625*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	680					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)	p.R680*(1)		NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTAGGACTTCGGAGTTTTACA	0.303																																					p.R625X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1873T	1						.						54.0	52.0	52.0					1																	114375748		2202	4298	6500	114177271	SO:0001587	stop_gained	26191	exon14			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2038C>T	1.37:g.114375748G>A	ENSP00000352833:p.Arg680*		114177271	NM_012411	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Nonsense_Mutation	SNP	ENST00000359785.5	37	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241160	0.79912	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	5.46	3.36	0.38483	.	0.950261	0.08680	N	0.909584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5412	0.39252	0.0:0.1438:0.6898:0.1664	.	.	.	.	X	680;625;436;680;553;680	.	ENSP00000346621:R680X	R	-	1	2	PTPN22	114177271	0.087000	0.21565	0.194000	0.23346	0.742000	0.42306	1.844000	0.39269	1.292000	0.44672	0.491000	0.48974	CGA		0.303	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967	
BCL2L15	440603	broad.mit.edu	37	1	114424443	114424443	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114424443G>T	ENST00000393316.3	-	3	597	c.426C>A	c.(424-426)atC>atA	p.I142I	BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Intron|BCL2L15_ENST00000488450.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	142					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.I142I(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-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)		GGTTCCCATTGATCATACCCG	0.502																																					p.I142I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426A	1						.						89.0	83.0	85.0					1																	114424443		2203	4300	6503	114225966	SO:0001819	synonymous_variant	440603	exon3				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.426C>A	1.37:g.114424443G>T			114225966	NM_001010922	A0PJY6|A8K074|I6LA82	Silent	SNP	ENST00000393316.3	37	CCDS30809.1																																																																																				0.502	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033026.2	NM_001010922	
HIPK1	204851	broad.mit.edu	37	1	114512694	114512694	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114512694G>A	ENST00000369558.1	+	14	3120	c.2888G>A	c.(2887-2889)gGc>gAc	p.G963D	HIPK1_ENST00000426820.2_Missense_Mutation_p.G963D|HIPK1_ENST00000369555.2_Missense_Mutation_p.G918D|HIPK1_ENST00000369561.4_Missense_Mutation_p.G929D|HIPK1_ENST00000406344.1_Missense_Mutation_p.G569D|HIPK1_ENST00000369559.4_Missense_Mutation_p.G963D|HIPK1_ENST00000369554.2_Missense_Mutation_p.G918D|HIPK1_ENST00000369553.1_Missense_Mutation_p.G569D|HIPK1_ENST00000340480.4_Missense_Mutation_p.G589D			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	963	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G963D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCTCCGAGGCAATAGTGGA	0.507																																					p.G589D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1766A	1						.						151.0	151.0	151.0					1																	114512694		2203	4300	6503	114314217	SO:0001583	missense	204851	exon13			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2888G>A	1.37:g.114512694G>A	ENSP00000358571:p.Gly963Asp		114314217	NM_198269	A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898643	0.33535	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.51325	0.75;0.71;0.8;0.78;0.78;0.8;0.76;3.81;2.9;2.9	5.95	4.98	0.66077	.	0.000000	0.64402	D	0.000003	T	0.16300	0.0392	N	0.14661	0.345	0.44619	D	0.997594	B;B;B;B	0.33345	0.409;0.156;0.18;0.275	B;B;B;B	0.32022	0.139;0.096;0.034;0.075	T	0.06267	-1.0836	10	0.12430	T	0.62	.	15.9656	0.79968	0.0:0.0:0.8646:0.1354	.	255;569;963;963	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	D	1034;963;963;918;918;963;929;589;569;569	ENSP00000407442:G1034D;ENSP00000358572:G963D;ENSP00000409673:G963D;ENSP00000358567:G918D;ENSP00000358568:G918D;ENSP00000358571:G963D;ENSP00000358574:G929D;ENSP00000340956:G589D;ENSP00000358566:G569D;ENSP00000384960:G569D	ENSP00000340956:G589D	G	+	2	0	HIPK1	114314217	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	2.304000	0.43655	2.826000	0.97356	0.491000	0.48974	GGC		0.507	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268	
OLFML3	56944	broad.mit.edu	37	1	114523201	114523201	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114523201G>A	ENST00000320334.4	+	2	436	c.362G>A	c.(361-363)gGc>gAc	p.G121D	OLFML3_ENST00000393300.2_Missense_Mutation_p.G101D|OLFML3_ENST00000369551.1_Missense_Mutation_p.G101D|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	121					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.G121D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGACCAAAGGCAAGGGAAGA	0.502																																					p.G121D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	1						.						89.0	91.0	90.0					1																	114523201		2203	4300	6503	114324724	SO:0001583	missense	56944	exon2			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.362G>A	1.37:g.114523201G>A	ENSP00000322273:p.Gly121Asp		114324724	NM_020190	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	CCDS870.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693423	0.30052	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.87650	-2.28;-2.19;-2.28	5.59	4.66	0.58398	.	0.427811	0.27787	N	0.017860	T	0.53546	0.1803	N	0.08118	0	0.29710	N	0.839485	B;B	0.23249	0.039;0.082	B;B	0.23574	0.043;0.047	T	0.36089	-0.9762	10	0.12430	T	0.62	.	7.6698	0.28453	0.0967:0.2805:0.6228:0.0	.	101;121	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	D	101;121;101	ENSP00000358564:G101D;ENSP00000322273:G121D;ENSP00000376977:G101D	ENSP00000322273:G121D	G	+	2	0	OLFML3	114324724	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.953000	0.56699	2.629000	0.89072	0.555000	0.69702	GGC		0.502	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190	
SYT6	148281	broad.mit.edu	37	1	114682490	114682490	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114682490G>A	ENST00000610222.1	-	2	405	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	SYT6_ENST00000607941.1_Missense_Mutation_p.P2S|SYT6_ENST00000609117.1_Missense_Mutation_p.P2S|SYT6_ENST00000369547.1_Missense_Mutation_p.P2S|SYT6_ENST00000393296.1_Missense_Mutation_p.P87S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	87					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.P2S(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)		TTCCTCCAGGGCATCCAGCAC	0.572																																					p.P2S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4T	1						.						64.0	71.0	69.0					1																	114682490		2203	4300	6503	114484013	SO:0001583	missense	148281	exon2				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.259C>T	1.37:g.114682490G>A	ENSP00000476396:p.Pro87Ser		114484013	NM_205848	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	g	14.90	2.673502	0.47781	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545;ENST00000425037;ENST00000447981	T;T;T;T;T;T	0.59638	0.25;0.57;0.25;0.57;1.23;0.57	5.66	4.75	0.60458	.	0.290337	0.39615	N	0.001304	T	0.32466	0.0830	N	0.25890	0.77	0.49389	D	0.999782	B	0.26975	0.165	B	0.32090	0.14	T	0.24870	-1.0148	10	0.41790	T	0.15	.	14.522	0.67856	0.0704:0.0:0.9296:0.0	.	87	Q5T7P8	SYT6_HUMAN	S	2;87;2;87;2;2	ENSP00000358560:P2S;ENSP00000376974:P87S;ENSP00000358559:P2S;ENSP00000358558:P87S;ENSP00000412443:P2S;ENSP00000389266:P2S	ENSP00000358558:P87S	P	-	1	0	SYT6	114484013	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.074000	0.57577	1.409000	0.46915	0.651000	0.88453	CCC		0.572	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
TRIM33	51592	broad.mit.edu	37	1	114940417	114940417	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114940417C>A	ENST00000358465.2	-	20	3320	c.3237G>T	c.(3235-3237)gaG>gaT	p.E1079D	TRIM33_ENST00000369543.2_Missense_Mutation_p.E1062D|TRIM33_ENST00000450349.2_Missense_Mutation_p.E711D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1079					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1079D(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAGTAGATCTCTGTGAGTT	0.453			T	RET	papillary thyroid																																p.E1079D			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3237T	1						.						164.0	150.0	155.0					1																	114940417		2203	4300	6503	114741940	SO:0001583	missense	51592	exon20			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.3237G>T	1.37:g.114940417C>A	ENSP00000351250:p.Glu1079Asp		114741940	NM_015906	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.244255|2.244255	0.39697|0.39697	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.20332|.	2.08;2.08;2.08|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Bromodomain (3);|.	0.090754|.	0.85682|.	D|.	0.000000|.	T|T	0.51787|0.51787	0.1695|0.1695	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	B;B;P;P|.	0.51791|.	0.259;0.222;0.657;0.948|.	B;B;B;B|.	0.41236|.	0.084;0.129;0.3;0.351|.	T|T	0.49409|0.49409	-0.8943|-0.8943	10|5	0.48119|.	T|.	0.1|.	-12.3833|-12.3833	12.6569|12.6569	0.56791|0.56791	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	711;711;1062;1079|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	D|I	1079;1062;711|840	ENSP00000351250:E1079D;ENSP00000358556:E1062D;ENSP00000412077:E711D|.	ENSP00000351250:E1079D|.	E|R	-|-	3|2	2|0	TRIM33|TRIM33	114741940|114741940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.306000|2.306000	0.43673|0.43673	2.646000|2.646000	0.89796|0.89796	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.453	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
TRIM33	51592	broad.mit.edu	37	1	114968214	114968214	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:114968214G>T	ENST00000358465.2	-	9	1635	c.1552C>A	c.(1552-1554)Cac>Aac	p.H518N	TRIM33_ENST00000369543.2_Missense_Mutation_p.H518N|TRIM33_ENST00000450349.2_Missense_Mutation_p.H126N	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	518					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H518N(1)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTGCATGTGCTGGAGTCGA	0.448			T	RET	papillary thyroid																																p.H518N			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1552A	1						.						365.0	320.0	335.0					1																	114968214		2203	4300	6503	114769737	SO:0001583	missense	51592	exon9			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1552C>A	1.37:g.114968214G>T	ENSP00000351250:p.His518Asn		114769737	NM_015906	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.727415|4.727415	0.89390|0.89390	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.78481|.	-0.95;-0.82;-1.18|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.044464|.	0.85682|.	N|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.61080|.	0.936;0.936;0.989;0.983|.	P;P;D;D|.	0.72982|.	0.885;0.885;0.979;0.943|.	T|T	0.65701|0.65701	-0.6104|-0.6104	10|5	0.20046|.	T|.	0.44|.	-10.5766|-10.5766	18.9585|18.9585	0.92670|0.92670	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	126;126;518;518|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	N|R	518;518;126|254	ENSP00000351250:H518N;ENSP00000358556:H518N;ENSP00000412077:H126N|.	ENSP00000351250:H518N|.	H|S	-|-	1|3	0|2	TRIM33|TRIM33	114769737|114769737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.938000|8.938000	0.92943|0.92943	2.554000|2.554000	0.86153|0.86153	0.650000|0.650000	0.86243|0.86243	CAC|AGC		0.448	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
PTCHD2	57540	broad.mit.edu	37	1	11574496	11574496	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11574496C>T	ENST00000294484.6	+	4	1504	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R456C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	456					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R673C(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTATGAAGTGCGCAGGACGTT	0.532																																					p.R456C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1366T	1						.						137.0	134.0	135.0					1																	11574496		2049	4192	6241	11497083	SO:0001583	missense	57540	exon4			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1366C>T	1.37:g.11574496C>T	ENSP00000294484:p.Arg456Cys		11497083	NM_020780	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687602	0.68157	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.95690	-3.78;-3.78	5.03	3.03	0.35002	.	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	L	0.43152	1.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.93981	0.7258	10	0.59425	D	0.04	-25.1376	6.4875	0.22097	0.3132:0.5951:0.0:0.0917	.	456	Q9P2K9	PTHD2_HUMAN	C	456	ENSP00000294484:R456C;ENSP00000374226:R456C	ENSP00000294484:R456C	R	+	1	0	PTCHD2	11497083	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.308000	0.43690	1.254000	0.44035	0.655000	0.94253	CGC		0.532	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
DENND2C	163259	broad.mit.edu	37	1	115166144	115166144	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115166144G>T	ENST00000393274.1	-	5	1552	c.927C>A	c.(925-927)atC>atA	p.I309I	DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393277.1_Silent_p.I309I|DENND2C_ENST00000393276.3_Silent_p.I309I	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	309					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I309I(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCTTCATAGATATTGTCCT	0.348																																					p.I309I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927A	1						.						98.0	97.0	97.0					1																	115166144		2202	4300	6502	114967667	SO:0001819	synonymous_variant	163259	exon3				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.927C>A	1.37:g.115166144G>T			114967667	NM_198459	B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	CCDS58018.1																																																																																				0.348	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
AMPD1	270	broad.mit.edu	37	1	115216304	115216304	+	Missense_Mutation	SNP	C	C	T	rs374697989		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115216304C>T	ENST00000520113.2	-	15	2155	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K	AMPD1_ENST00000369538.3_Missense_Mutation_p.E710K|AMPD1_ENST00000353928.6_Missense_Mutation_p.E681K			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	714					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.E681K(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTGCCACTTCGCACATATCA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19728	0.0		0.0	False		,,,				2504	0.0				p.E714K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2140A	1						.						103.0	100.0	101.0					1																	115216304		2203	4300	6503	115017827	SO:0001583	missense	270	exon15			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2140G>A	1.37:g.115216304C>T	ENSP00000430075:p.Glu714Lys		115017827	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	35	5.488261	0.96323	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.95690	-3.78;-3.78;-3.78	5.93	5.93	0.95920	Adenosine/AMP deaminase (1);	0.103160	0.64402	D	0.000002	D	0.98476	0.9492	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.947;0.99	D	0.98858	1.0761	10	0.87932	D	0	-23.8527	20.3368	0.98748	0.0:1.0:0.0:0.0	.	710;681	Q5TF02;P23109	.;AMPD1_HUMAN	K	714;710;681	ENSP00000430075:E714K;ENSP00000358551:E710K;ENSP00000316520:E681K	ENSP00000316520:E681K	E	-	1	0	AMPD1	115017827	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GAA		0.433	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
CSDE1	7812	broad.mit.edu	37	1	115266570	115266570	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115266570G>A	ENST00000358528.4	-	16	2233	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	CSDE1_ENST00000369530.1_Missense_Mutation_p.R618C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R473C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R603C|CSDE1_ENST00000438362.2_Missense_Mutation_p.R649C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R572C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R572C	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	603					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R603C(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGGGGGCGAATTACTTTG	0.418																																					p.R618C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1852T	1						.						181.0	159.0	166.0					1																	115266570		2203	4300	6503	115068093	SO:0001583	missense	7812	exon16				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1807C>T	1.37:g.115266570G>A	ENSP00000351329:p.Arg603Cys		115068093	NM_001130523	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583771	0.65992	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.71036	2.16	0.80722	D	1	B;D;B	0.65815	0.088;0.995;0.01	B;B;B	0.43225	0.007;0.412;0.004	T	0.61831	-0.6982	9	0.87932	D	0	-0.4338	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	618;603;649	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	C	572;649;603;572;473;618;603	.	ENSP00000261443:R572C	R	-	1	0	CSDE1	115068093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.177000	0.65032	2.941000	0.99782	0.655000	0.94253	CGC		0.418	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
SYCP1	6847	broad.mit.edu	37	1	115402409	115402409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115402409G>T	ENST00000369522.3	+	7	742	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E168*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	168				E -> D (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.E168*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAATACAAGAAAATAAAGA	0.204																																					p.E168X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G502T	1						.						9.0	10.0	10.0					1																	115402409		1922	3975	5897	115203932	SO:0001587	stop_gained	6847	exon7			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.502G>T	1.37:g.115402409G>T	ENSP00000358535:p.Glu168*		115203932	NM_003176	O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	38	7.120366	0.98077	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.98	4.98	0.66077	.	0.053608	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-15.9457	17.8515	0.88748	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	ENSP00000358531:E168X	E	+	1	0	SYCP1	115203932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.195000	0.89723	2.312000	0.78011	0.561000	0.74099	GAA		0.204	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115430256	115430256	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115430256A>C	ENST00000369522.3	+	15	1440	c.1200A>C	c.(1198-1200)aaA>aaC	p.K400N	SYCP1_ENST00000369518.1_Missense_Mutation_p.K400N	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	400				KN -> NY (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.K400N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTGGAAAAAAATGAAGATC	0.259																																					p.K400N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1200C	1						.						37.0	41.0	40.0					1																	115430256		2181	4257	6438	115231779	SO:0001583	missense	6847	exon15			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1200A>C	1.37:g.115430256A>C	ENSP00000358535:p.Lys400Asn		115231779	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	9.745	1.165817	0.21538	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.44482	0.92;0.92;0.92	4.58	3.43	0.39272	.	0.424017	0.26927	N	0.021781	T	0.13756	0.0333	L	0.32530	0.975	0.33998	D	0.649973	B;B	0.17852	0.024;0.024	B;B	0.19391	0.025;0.025	T	0.05321	-1.0892	10	0.33940	T	0.23	-10.1084	7.5026	0.27526	0.8098:0.0:0.0:0.1902	.	400;400	B7ZLS9;Q15431	.;SYCP1_HUMAN	N	400	ENSP00000358535:K400N;ENSP00000410011:K400N;ENSP00000358531:K400N	ENSP00000358531:K400N	K	+	3	2	SYCP1	115231779	1.000000	0.71417	0.999000	0.59377	0.805000	0.45488	2.504000	0.45416	0.753000	0.32945	0.528000	0.53228	AAA		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115454178	115454178	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115454178C>A	ENST00000369522.3	+	18	1744	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	SYCP1_ENST00000369518.1_Missense_Mutation_p.L502I	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	502				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.L502I(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTTAAAGATCTAAAAACTGA	0.269																																					p.L502I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1504A	1						.						67.0	67.0	67.0					1																	115454178		2202	4288	6490	115255701	SO:0001583	missense	6847	exon18			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1504C>A	1.37:g.115454178C>A	ENSP00000358535:p.Leu502Ile		115255701	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841668	0.32513	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52526	0.66;0.66;0.66	5.6	2.11	0.27256	.	0.382752	0.23750	N	0.044928	T	0.30448	0.0765	M	0.64997	1.995	0.28780	N	0.899885	P;P	0.43750	0.816;0.816	P;P	0.46362	0.514;0.514	T	0.12400	-1.0549	10	0.52906	T	0.07	0.0419	7.6004	0.28073	0.5243:0.3965:0.0:0.0792	.	502;502	B7ZLS9;Q15431	.;SYCP1_HUMAN	I	502	ENSP00000358535:L502I;ENSP00000410011:L502I;ENSP00000358531:L502I	ENSP00000358531:L502I	L	+	1	2	SYCP1	115255701	0.995000	0.38212	0.989000	0.46669	0.548000	0.35241	0.531000	0.23052	0.102000	0.17638	0.585000	0.79938	CTA		0.269	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115486998	115486998	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115486998G>T	ENST00000369522.3	+	24	2205	c.1965G>T	c.(1963-1965)caG>caT	p.Q655H	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q655H	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	655					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.Q655H(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGCCAAACAGAAATTTGGAG	0.299																																					p.Q655H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1965T	1						.						39.0	45.0	43.0					1																	115486998		2199	4280	6479	115288521	SO:0001583	missense	6847	exon24			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1965G>T	1.37:g.115486998G>T	ENSP00000358535:p.Gln655His		115288521	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350920	0.41599	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54675	0.56;0.56;0.56	4.24	-0.722	0.11184	.	0.247253	0.39083	N	0.001473	T	0.37376	0.1001	L	0.51422	1.61	0.27537	N	0.950908	P;P	0.37573	0.6;0.6	P;P	0.49301	0.606;0.606	T	0.42531	-0.9446	10	0.62326	D	0.03	-11.205	8.9172	0.35590	0.5124:0.0:0.4876:0.0	.	655;655	B7ZLS9;Q15431	.;SYCP1_HUMAN	H	655	ENSP00000358535:Q655H;ENSP00000410011:Q655H;ENSP00000358531:Q655H	ENSP00000358531:Q655H	Q	+	3	2	SYCP1	115288521	0.967000	0.33354	0.998000	0.56505	0.704000	0.40688	0.029000	0.13666	-0.096000	0.12329	-0.302000	0.09304	CAG		0.299	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115487553	115487553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115487553C>T	ENST00000369522.3	+	25	2344	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.R702*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	702					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R702*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTGATAAGCGATGTCAACA	0.249																																					p.R702X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2104T	1						.						39.0	40.0	40.0					1																	115487553		2201	4285	6486	115289076	SO:0001587	stop_gained	6847	exon25			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2104C>T	1.37:g.115487553C>T	ENSP00000358535:p.Arg702*		115289076	NM_003176	O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	36	5.826235	0.96996	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.91	3.9	0.45041	.	0.080155	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3104	15.5178	0.75840	0.1479:0.8521:0.0:0.0	.	.	.	.	X	702	.	ENSP00000358531:R702X	R	+	1	2	SYCP1	115289076	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	1.957000	0.40392	2.268000	0.75426	0.650000	0.86243	CGA		0.249	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115489931	115489931	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:115489931G>T	ENST00000369522.3	+	27	2552	c.2312G>T	c.(2311-2313)aGa>aTa	p.R771I	SYCP1_ENST00000369518.1_Missense_Mutation_p.R771I	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	771					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.R771I(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAATAGAAAGAGAAGAGAAG	0.299																																					p.R771I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2312T	1						.						60.0	65.0	63.0					1																	115489931		2203	4293	6496	115291454	SO:0001583	missense	6847	exon27			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2312G>T	1.37:g.115489931G>T	ENSP00000358535:p.Arg771Ile		115291454	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996108	0.54147	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.51071	0.72;0.72;0.72	5.12	0.656	0.17844	.	0.631633	0.16096	N	0.229806	T	0.15739	0.0379	L	0.43152	1.355	0.32635	N	0.521454	B	0.17268	0.021	B	0.18871	0.023	T	0.03086	-1.1074	10	0.49607	T	0.09	-4.6803	2.1566	0.03814	0.144:0.116:0.4017:0.3383	.	771	Q15431	SYCP1_HUMAN	I	771	ENSP00000358535:R771I;ENSP00000410011:R771I;ENSP00000358531:R771I	ENSP00000358531:R771I	R	+	2	0	SYCP1	115291454	0.989000	0.36119	1.000000	0.80357	0.862000	0.49288	0.009000	0.13219	0.226000	0.20979	0.650000	0.86243	AGA		0.299	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
CASQ2	845	broad.mit.edu	37	1	116275578	116275578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116275578C>A	ENST00000261448.5	-	5	789	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	CASQ2_ENST00000456138.2_Nonsense_Mutation_p.E113*|CASQ2_ENST00000488931.1_5'Flank	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	184					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.E184*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCAGCTGCTTCTTCAAAAGCC	0.383																																					p.E184X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G550T	1						.						108.0	106.0	107.0					1																	116275578		2203	4300	6503	116077101	SO:0001587	stop_gained	845	exon5			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.550G>T	1.37:g.116275578C>A	ENSP00000261448:p.Glu184*		116077101	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Nonsense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	39	7.864927	0.98531	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-39.3859	19.7565	0.96296	0.0:1.0:0.0:0.0	.	.	.	.	X	184;113;184	.	ENSP00000261448:E184X	E	-	1	0	CASQ2	116077101	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.553000	0.67287	2.835000	0.97688	0.650000	0.86243	GAA		0.383	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
CASQ2	845	broad.mit.edu	37	1	116280902	116280902	+	Missense_Mutation	SNP	C	C	T	rs375598471		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116280902C>T	ENST00000261448.5	-	4	714	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	159					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.E159K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCAATGCGTTCGAAGGCTTGG	0.443																																					p.E159K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	1						.	C	LYS/GLU	0,4406		0,0,2203	244.0	214.0	224.0		475	4.8	1.0	1		224	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASQ2	NM_001232.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	159/400	116280902	2,13004	2203	4300	6503	116082425	SO:0001583	missense	845	exon4			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.475G>A	1.37:g.116280902C>T	ENSP00000261448:p.Glu159Lys		116082425	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877678	0.72294	0.0	2.33E-4	ENSG00000118729	ENST00000261448;ENST00000446755	T	0.79033	-1.23	5.82	4.85	0.62838	Thioredoxin-like fold (2);	0.097447	0.64402	D	0.000001	T	0.59595	0.2205	M	0.66939	2.045	0.80722	D	1	B	0.26602	0.154	B	0.26614	0.071	T	0.58836	-0.7566	10	0.06236	T	0.91	-30.3587	14.4137	0.67135	0.0:0.8529:0.1471:0.0	.	159	O14958	CASQ2_HUMAN	K	159	ENSP00000261448:E159K	ENSP00000261448:E159K	E	-	1	0	CASQ2	116082425	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.574000	0.53863	2.752000	0.94435	0.655000	0.94253	GAA		0.443	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
SLC22A15	55356	broad.mit.edu	37	1	116563350	116563350	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116563350C>T	ENST00000369503.4	+	4	572	c.442C>T	c.(442-444)Ctt>Ttt	p.L148F	SLC22A15_ENST00000369502.1_Missense_Mutation_p.L148F	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	148					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L148F(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGTTTTGCTCTTGACATCTT	0.343											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L148F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	1						.						122.0	111.0	115.0					1																	116563350		1855	4095	5950	116364873	SO:0001583	missense	55356	exon4			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.442C>T	1.37:g.116563350C>T	ENSP00000358515:p.Leu148Phe	1474	116364873	NM_018420	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472427	0.43942	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.78246	-1.16;0.07	6.05	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.115058	0.64402	D	0.000014	T	0.57666	0.2069	N	0.21194	0.64	0.44275	D	0.997136	P;P	0.42296	0.568;0.775	B;B	0.42214	0.38;0.334	T	0.59989	-0.7350	10	0.31617	T	0.26	.	14.7748	0.69724	0.0:0.9315:0.0:0.0685	.	148;148	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	F	148	ENSP00000358515:L148F;ENSP00000358514:L148F	ENSP00000358514:L148F	L	+	1	0	SLC22A15	116364873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.066000	0.50002	2.866000	0.98385	0.650000	0.86243	CTT		0.343	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420	
SLC22A15	55356	broad.mit.edu	37	1	116569517	116569517	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116569517C>T	ENST00000369503.4	+	5	732	c.602C>T	c.(601-603)tCg>tTg	p.S201L	SLC22A15_ENST00000369502.1_Missense_Mutation_p.S201L	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	201					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.S201L(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAATTAGGATCGATTGGCGGC	0.498																																					p.S201L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C602T	1						.						224.0	208.0	213.0					1																	116569517		1962	4135	6097	116371040	SO:0001583	missense	55356	exon5			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.602C>T	1.37:g.116569517C>T	ENSP00000358515:p.Ser201Leu		116371040	NM_018420	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698299	0.68386	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.11	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.054615	0.85682	D	0.000000	T	0.64427	0.2597	L	0.31845	0.965	0.54753	D	0.999987	P;D	0.54964	0.66;0.969	B;B	0.44085	0.252;0.44	T	0.66404	-0.5932	10	0.38643	T	0.18	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	201;201	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	L	201	ENSP00000358515:S201L;ENSP00000358514:S201L	ENSP00000358514:S201L	S	+	2	0	SLC22A15	116371040	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.400000	0.66320	2.710000	0.92621	0.563000	0.77884	TCG		0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420	
ATP1A1	476	broad.mit.edu	37	1	116933466	116933466	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116933466A>G	ENST00000295598.5	+	10	1537	c.1285A>G	c.(1285-1287)Aac>Gac	p.N429D	ATP1A1_ENST00000369496.4_Missense_Mutation_p.N398D|ATP1A1_ENST00000537345.1_Missense_Mutation_p.N429D	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	429					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.N429D(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGTCTTTGTAACAGGGCAGT	0.448																																					p.N429D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1285G	1						.						174.0	166.0	168.0					1																	116933466		2203	4300	6503	116734989	SO:0001583	missense	476	exon10			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1285A>G	1.37:g.116933466A>G	ENSP00000295598:p.Asn429Asp		116734989	NM_000701	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	31	5.086812	0.94100	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.84516	-1.86;-1.86;-1.86	5.1	5.1	0.69264	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.088989	0.85682	D	0.000000	D	0.92596	0.7648	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94129	0.7386	10	0.87932	D	0	.	15.0403	0.71785	1.0:0.0:0.0:0.0	.	429;429	F5H3A1;P05023	.;AT1A1_HUMAN	D	429;429;428;398	ENSP00000295598:N429D;ENSP00000445306:N429D;ENSP00000358508:N398D	ENSP00000295598:N429D	N	+	1	0	ATP1A1	116734989	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.130000	0.94437	2.153000	0.67306	0.519000	0.50382	AAC		0.448	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
ATP1A1	476	broad.mit.edu	37	1	116943802	116943802	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:116943802C>T	ENST00000295598.5	+	20	3021	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	ATP1A1_ENST00000369496.4_Silent_p.F892F|ATP1A1_ENST00000537345.1_Silent_p.F923F	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	923					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.F923F(2)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CAGCCTTCTTCGTCAGTATCG	0.507																																					p.F923F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2769T	1						.						91.0	80.0	84.0					1																	116943802		2203	4300	6503	116745325	SO:0001819	synonymous_variant	476	exon20			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2769C>T	1.37:g.116943802C>T			116745325	NM_000701	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418198	0.25552	.	.	ENSG00000163399	ENST00000339159	.	.	.	5.1	-4.5	0.03493	.	.	.	.	.	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72080	-0.4398	5	0.66056	D	0.02	.	13.8847	0.63702	0.0:0.2556:0.0:0.7444	.	.	.	.	L	655	.	ENSP00000342827:S655L	S	+	2	0	ATP1A1	116745325	0.102000	0.21896	0.973000	0.42090	0.998000	0.95712	-0.560000	0.05964	-0.728000	0.04882	0.591000	0.81541	TCG		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
CD58	965	broad.mit.edu	37	1	117064558	117064558	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117064558T>G	ENST00000369489.5	-	4	742	c.676A>C	c.(676-678)Att>Ctt	p.I226L	CD58_ENST00000369487.3_Missense_Mutation_p.I226L|CD58_ENST00000457047.2_Missense_Mutation_p.I226L	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	226					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.I226L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CATGTTGTAATTACTGCTAAT	0.289																																					p.I226L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A676C	1						.						79.0	75.0	76.0					1																	117064558		2197	4298	6495	116866081	SO:0001583	missense	965	exon4			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.676A>C	1.37:g.117064558T>G	ENSP00000358501:p.Ile226Leu		116866081	NM_001779	A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	7.315	0.615877	0.14129	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T	0.55930	0.49;0.51;0.84	1.92	-3.85	0.04243	.	5.897520	0.00508	N	0.000163	T	0.11196	0.0273	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32101	0.356;0.229;0.206	B;B;B	0.28139	0.081;0.081;0.086	T	0.03325	-1.1048	10	0.27082	T	0.32	.	0.4243	0.00461	0.1978:0.2962:0.2005:0.3055	.	226;226;226	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	L	226;226;110;226	ENSP00000358501:I226L;ENSP00000409080:I226L;ENSP00000358499:I226L	ENSP00000358499:I226L	I	-	1	0	CD58	116866081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.026000	0.01434	-1.355000	0.02186	-0.327000	0.08410	ATT		0.289	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779	
IGSF3	3321	broad.mit.edu	37	1	117142915	117142915	+	Silent	SNP	G	G	A	rs376742521		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117142915G>A	ENST00000369486.3	-	7	2442	c.1677C>T	c.(1675-1677)agC>agT	p.S559S	IGSF3_ENST00000369483.1_Silent_p.S579S|IGSF3_ENST00000318837.6_Silent_p.S579S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	559	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.S559S(1)|p.S579S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAAGGAGTCGCTGTAGGTCA	0.587																																					p.S579S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1737T	1						.	G	,	1,4405	2.1+/-5.4	0,1,2202	27.0	32.0	31.0		1677,1737	-2.3	1.0	1		31	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	IGSF3	NM_001007237.1,NM_001542.2	,	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,	559/1195,579/1215	117142915	2,12998	2203	4297	6500	116944438	SO:0001819	synonymous_variant	3321	exon8			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1677C>T	1.37:g.117142915G>A			116944438	NM_001542	A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.587	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
IGSF3	3321	broad.mit.edu	37	1	117156487	117156487	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117156487G>T	ENST00000369486.3	-	4	1497	c.732C>A	c.(730-732)ttC>ttA	p.F244L	IGSF3_ENST00000369483.1_Missense_Mutation_p.F244L|IGSF3_ENST00000318837.6_Missense_Mutation_p.F244L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	244	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.F244L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCGCAGTAGAATTCGCCCT	0.637																																					p.F244L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C732A	1						.						42.0	39.0	40.0					1																	117156487		2203	4300	6503	116958010	SO:0001583	missense	3321	exon4			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.732C>A	1.37:g.117156487G>T	ENSP00000358498:p.Phe244Leu		116958010	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806934	0.16467	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.65549	-0.16;-0.16;-0.16	4.77	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059205	0.64402	D	0.000001	T	0.41259	0.1151	N	0.16307	0.4	0.50813	D	0.999891	P;P	0.46859	0.804;0.885	P;P	0.57548	0.665;0.823	T	0.34453	-0.9828	10	0.10636	T	0.68	-44.5103	8.834	0.35102	0.1002:0.0:0.8998:0.0	.	244;244	O75054;A6NJZ6	IGSF3_HUMAN;.	L	244	ENSP00000358498:F244L;ENSP00000358495:F244L;ENSP00000321184:F244L	ENSP00000321184:F244L	F	-	3	2	IGSF3	116958010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.102000	0.41796	2.470000	0.83445	0.557000	0.71058	TTC		0.637	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
PTGFRN	5738	broad.mit.edu	37	1	117509565	117509565	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117509565A>C	ENST00000393203.2	+	6	1819	c.1672A>C	c.(1672-1674)Aag>Cag	p.K558Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	558	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K558Q(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGGCAGCCAAAGCCTTTCTT	0.418																																					p.K558Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1672C	1						.						40.0	41.0	40.0					1																	117509565		2203	4300	6503	117311088	SO:0001583	missense	5738	exon6			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1672A>C	1.37:g.117509565A>C	ENSP00000376899:p.Lys558Gln		117311088	NM_020440	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421068	0.62622	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.11277	2.79	5.35	4.14	0.48551	Immunoglobulin subtype (1);	0.133789	0.51477	D	0.000091	T	0.02494	0.0076	N	0.16478	0.41	0.38508	D	0.948403	P	0.45240	0.854	P	0.45406	0.479	T	0.41088	-0.9528	10	0.11182	T	0.66	-37.474	5.1848	0.15178	0.726:0.1829:0.0911:0.0	.	558	Q9P2B2	FPRP_HUMAN	Q	558;417	ENSP00000376899:K558Q	ENSP00000376899:K558Q	K	+	1	0	PTGFRN	117311088	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.928000	0.63447	2.163000	0.67991	0.528000	0.53228	AAG		0.418	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
CD101	9398	broad.mit.edu	37	1	117544473	117544473	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117544473C>A	ENST00000256652.4	+	1	92	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	CD101_ENST00000369470.1_Missense_Mutation_p.L12I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	12					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L12I(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTTTCTTTCTCCTTCTGAG	0.433																																					p.L12I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C34A	1						.						294.0	236.0	256.0					1																	117544473		2203	4300	6503	117345996	SO:0001583	missense	9398	exon1			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.34C>A	1.37:g.117544473C>A	ENSP00000256652:p.Leu12Ile		117345996	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183356	0.21870	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.04015	3.73;3.73	5.31	4.36	0.52297	Immunoglobulin-like fold (1);	0.463838	0.19912	N	0.103275	T	0.01695	0.0054	L	0.40543	1.245	0.27387	N	0.955254	P	0.42908	0.793	B	0.41202	0.35	T	0.47736	-0.9094	10	0.22109	T	0.4	1.9687	8.4237	0.32716	0.0:0.8877:0.0:0.1123	.	12	Q93033	IGSF2_HUMAN	I	12	ENSP00000256652:L12I;ENSP00000358482:L12I	ENSP00000256652:L12I	L	+	1	0	CD101	117345996	0.988000	0.35896	0.977000	0.42913	0.856000	0.48823	0.722000	0.25925	1.392000	0.46585	0.555000	0.69702	CTC		0.433	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
CD101	9398	broad.mit.edu	37	1	117552701	117552701	+	Silent	SNP	C	C	T	rs559703299		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117552701C>T	ENST00000256652.4	+	2	331	c.273C>T	c.(271-273)agC>agT	p.S91S	CD101_ENST00000369470.1_Silent_p.S91S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	91	Ig-like C2-type 1.			S -> G (in Ref. 1; CAA83923). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.S91S(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGTGCGAAGCGGAGACGTCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21151	0.001		0.0	False		,,,				2504	0.0				p.S91S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	1						.						95.0	85.0	88.0					1																	117552701		2203	4300	6503	117354224	SO:0001819	synonymous_variant	9398	exon2			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.273C>T	1.37:g.117552701C>T			117354224	NM_004258	Q15856	Silent	SNP	ENST00000256652.4	37	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
CD101	9398	broad.mit.edu	37	1	117556033	117556033	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117556033G>T	ENST00000256652.4	+	4	905	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	CD101_ENST00000369470.1_Missense_Mutation_p.D283Y	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	283	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D283Y(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCAGTGAAAGATTTTCAAGT	0.478																																					p.D283Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G847T	1						.						127.0	135.0	132.0					1																	117556033		2203	4300	6503	117357556	SO:0001583	missense	9398	exon4			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.847G>T	1.37:g.117556033G>T	ENSP00000256652:p.Asp283Tyr		117357556	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519223	0.64634	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03831	3.79;3.79	6.06	5.06	0.68205	Immunoglobulin-like (1);	0.463681	0.19944	N	0.102591	T	0.09949	0.0244	M	0.74881	2.28	0.43930	D	0.996581	D	0.76494	0.999	P	0.60789	0.879	T	0.01036	-1.1473	10	0.72032	D	0.01	-5.4844	10.9522	0.47336	0.0927:0.0:0.9073:0.0	.	283	Q93033	IGSF2_HUMAN	Y	283	ENSP00000256652:D283Y;ENSP00000358482:D283Y	ENSP00000256652:D283Y	D	+	1	0	CD101	117357556	0.980000	0.34600	0.996000	0.52242	0.996000	0.88848	1.859000	0.39418	1.411000	0.46957	0.655000	0.94253	GAT		0.478	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
CD101	9398	broad.mit.edu	37	1	117559944	117559944	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117559944G>T	ENST00000256652.4	+	5	1519	c.1461G>T	c.(1459-1461)gaG>gaT	p.E487D	CD101_ENST00000369470.1_Missense_Mutation_p.E487D	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	487	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.E487D(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAGGCTGGAGAAAATGGACT	0.557																																					p.E487D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1461T	1						.						108.0	98.0	102.0					1																	117559944		2203	4300	6503	117361467	SO:0001583	missense	9398	exon5			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1461G>T	1.37:g.117559944G>T	ENSP00000256652:p.Glu487Asp		117361467	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330858	0.41297	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.22539	1.95;1.95	4.62	2.7	0.31948	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.533273	0.18420	N	0.141768	T	0.09905	0.0243	M	0.74258	2.255	0.30320	N	0.787722	B	0.18166	0.026	B	0.18561	0.022	T	0.11690	-1.0577	10	0.48119	T	0.1	-9.3874	6.5166	0.22252	0.0986:0.182:0.7194:0.0	.	487	Q93033	IGSF2_HUMAN	D	487	ENSP00000256652:E487D;ENSP00000358482:E487D	ENSP00000256652:E487D	E	+	3	2	CD101	117361467	1.000000	0.71417	0.988000	0.46212	0.888000	0.51559	1.148000	0.31614	0.640000	0.30582	-0.126000	0.14955	GAG		0.557	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
TTF2	8458	broad.mit.edu	37	1	117616303	117616303	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117616303G>T	ENST00000369466.4	+	4	283	c.239G>T	c.(238-240)aGa>aTa	p.R80I		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	80				R -> G (in Ref. 2; AAD49435). {ECO:0000305}.	ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.R80I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CGATGCATTAGAAGTAAGGCA	0.348																																					p.R80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239T	1						.						154.0	145.0	148.0					1																	117616303		2203	4300	6503	117417826	SO:0001583	missense	8458	exon4			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.239G>T	1.37:g.117616303G>T	ENSP00000358478:p.Arg80Ile		117417826	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816603	0.50633	.	.	ENSG00000116830	ENST00000369466	D	0.87256	-2.23	5.24	-1.83	0.07833	.	0.357115	0.20632	N	0.088576	T	0.78227	0.4250	L	0.57536	1.79	0.19775	N	0.999956	P;P	0.48016	0.868;0.904	B;P	0.51355	0.317;0.667	T	0.73062	-0.4101	10	0.72032	D	0.01	-5.0244	5.2832	0.15686	0.5077:0.1538:0.3385:0.0	.	80;80	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	I	80	ENSP00000358478:R80I	ENSP00000358478:R80I	R	+	2	0	TTF2	117417826	0.008000	0.16893	0.062000	0.19696	0.964000	0.63967	0.042000	0.13949	-0.279000	0.09167	0.484000	0.47621	AGA		0.348	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
TTF2	8458	broad.mit.edu	37	1	117632681	117632681	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117632681C>A	ENST00000369466.4	+	14	2391	c.2347C>A	c.(2347-2349)Ctc>Atc	p.L783I		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	783	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L783I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAAAAGGTTTCTCCGTTGCTC	0.408																																					p.L783I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2347A	1						.						109.0	113.0	112.0					1																	117632681		2203	4300	6503	117434204	SO:0001583	missense	8458	exon14			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2347C>A	1.37:g.117632681C>A	ENSP00000358478:p.Leu783Ile		117434204	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744191	0.89663	.	.	ENSG00000116830	ENST00000369466	D	0.95205	-3.64	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.35585	N	0.003102	D	0.96617	0.8896	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96633	0.9468	10	0.72032	D	0.01	-15.3937	16.7371	0.85449	0.0:1.0:0.0:0.0	.	783	Q9UNY4	TTF2_HUMAN	I	783	ENSP00000358478:L783I	ENSP00000358478:L783I	L	+	1	0	TTF2	117434204	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.799000	0.47892	2.826000	0.97356	0.655000	0.94253	CTC		0.408	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
TTF2	8458	broad.mit.edu	37	1	117644078	117644078	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117644078C>A	ENST00000369466.4	+	23	3465	c.3421C>A	c.(3421-3423)Cta>Ata	p.L1141I	TTF2_ENST00000480701.1_3'UTR	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	1141	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.L1141I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAACAAGTTCTATCAGGGTC	0.398																																					p.L1141I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3421A	1						.						172.0	178.0	176.0					1																	117644078		2203	4300	6503	117445601	SO:0001583	missense	8458	exon23			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.3421C>A	1.37:g.117644078C>A	ENSP00000358478:p.Leu1141Ile		117445601	NM_003594	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548071	0.86022	.	.	ENSG00000116830	ENST00000369466;ENST00000427271	T;T	0.76968	-1.06;-1.06	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.000000	0.31821	N	0.007008	T	0.79868	0.4520	L	0.33710	1.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.78745	-0.2084	10	0.44086	T	0.13	-12.2997	17.8168	0.88637	0.0:1.0:0.0:0.0	.	1141	Q9UNY4	TTF2_HUMAN	I	1141;122	ENSP00000358478:L1141I;ENSP00000408111:L122I	ENSP00000358478:L1141I	L	+	1	2	TTF2	117445601	1.000000	0.71417	0.984000	0.44739	0.903000	0.53119	4.524000	0.60552	2.879000	0.98667	0.650000	0.86243	CTA		0.398	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
MTHFR	4524	broad.mit.edu	37	1	11854882	11854882	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11854882C>T	ENST00000376592.1	-	6	1198	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	MTHFR_ENST00000376585.1_Missense_Mutation_p.R398H|MTHFR_ENST00000376583.3_Missense_Mutation_p.R398H|MTHFR_ENST00000376590.3_Missense_Mutation_p.R357H			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	357			R -> C (in MTHFRD). {ECO:0000269|PubMed:7726158}.		blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.R357H(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TTCCTCTCGGCGCTTGGGGTG	0.607																																					p.R357H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1070A	1						.						59.0	60.0	60.0					1																	11854882		2203	4300	6503	11777469	SO:0001583	missense	4524	exon7			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1070G>A	1.37:g.11854882C>T	ENSP00000365777:p.Arg357His		11777469	NM_005957	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376861	0.95945	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.98;1.0	P;D	0.81914	0.53;0.995	D	0.92092	0.5681	10	0.87932	D	0	.	17.4549	0.87604	0.0:1.0:0.0:0.0	.	357;398	P42898;Q5SNW6	MTHR_HUMAN;.	H	357;398;357;398	ENSP00000365777:R357H;ENSP00000365767:R398H;ENSP00000365775:R357H;ENSP00000365770:R398H	ENSP00000365767:R398H	R	-	2	0	MTHFR	11777469	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.338000	0.79269	2.407000	0.81776	0.462000	0.41574	CGC		0.607	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
CLCN6	1185	broad.mit.edu	37	1	11886267	11886267	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11886267G>A	ENST00000346436.6	+	9	755	c.703G>A	c.(703-705)Gac>Aac	p.D235N	CLCN6_ENST00000312413.6_Missense_Mutation_p.D235N|CLCN6_ENST00000376487.3_Missense_Mutation_p.D213N|CLCN6_ENST00000376496.3_Missense_Mutation_p.D235N|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	235					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.D235N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCCGAAGCGACAGGTATGG	0.448																																					p.D235N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703A	1						.						133.0	130.0	131.0					1																	11886267		2203	4300	6503	11808854	SO:0001583	missense	1185	exon9			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.703G>A	1.37:g.11886267G>A	ENSP00000234488:p.Asp235Asn		11808854	NM_021737	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698168	0.96802	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.76	5.76	0.90799	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96950	0.9004	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.983;0.996;0.999;0.997	D	0.97192	0.9858	10	0.87932	D	0	-43.5354	18.9641	0.92689	0.0:0.0:1.0:0.0	.	213;235;235;235;235	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	N	235;235;213;235;235;235;235	ENSP00000308367:D235N;ENSP00000234488:D235N;ENSP00000365670:D213N;ENSP00000365679:D235N	ENSP00000308367:D235N	D	+	1	0	CLCN6	11808854	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.284000	0.95882	2.713000	0.92767	0.655000	0.94253	GAC		0.448	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286	
CLCN6	1185	broad.mit.edu	37	1	11889342	11889342	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:11889342C>A	ENST00000346436.6	+	13	1263	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	CLCN6_ENST00000312413.6_Silent_p.L348L|CLCN6_ENST00000376487.3_Missense_Mutation_p.S382Y|CLCN6_ENST00000376496.3_Missense_Mutation_p.S404Y|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	404					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.S404Y(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGATGTCCTCTTCGAGTCAA	0.502																																					p.S404Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1211A	1						.						234.0	211.0	218.0					1																	11889342		2203	4300	6503	11811929	SO:0001583	missense	1185	exon13			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1211C>A	1.37:g.11889342C>A	ENSP00000234488:p.Ser404Tyr		11811929	NM_001286	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226555	0.22542	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.91843	-2.92;-2.91;-2.91	5.83	4.92	0.64577	Chloride channel, core (1);	0.315121	0.39985	N	0.001205	D	0.93690	0.7984	.	.	.	0.80722	D	1	P;P	0.47191	0.867;0.891	P;P	0.52267	0.568;0.694	D	0.93639	0.6963	9	0.54805	T	0.06	-8.6969	14.1851	0.65601	0.0:0.9284:0.0:0.0716	.	382;404	F8W9R3;P51797	.;CLCN6_HUMAN	Y	404;382;404	ENSP00000234488:S404Y;ENSP00000365670:S382Y;ENSP00000365679:S404Y	ENSP00000234488:S404Y	S	+	2	0	CLCN6	11811929	0.997000	0.39634	0.005000	0.12908	0.008000	0.06430	6.717000	0.74707	1.470000	0.48102	-0.150000	0.13652	TCT		0.502	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286	
MAN1A2	10905	broad.mit.edu	37	1	117963224	117963224	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:117963224C>A	ENST00000356554.3	+	5	1543	c.808C>A	c.(808-810)Cga>Aga	p.R270R	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	270					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R270R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AGTCAACATTCGATTTATTGG	0.353																																					p.R270R	Ovarian(33;199 881 8228 13687 31538)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C808A	1						.						128.0	116.0	120.0					1																	117963224		2203	4300	6503	117764747	SO:0001819	synonymous_variant	10905	exon5			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.808C>A	1.37:g.117963224C>A			117764747	NM_006699	Q9H510	Silent	SNP	ENST00000356554.3	37	CCDS895.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562798	0.27915	.	.	ENSG00000198162	ENST00000449370	.	.	.	5.78	4.84	0.62591	.	.	.	.	.	T	0.52058	0.1711	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53865	-0.8378	4	.	.	.	-1.7687	11.9573	0.52988	0.1734:0.8265:0.0:0.0	.	.	.	.	L	2	.	.	F	+	3	2	MAN1A2	117764747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.273000	0.58914	1.382000	0.46385	0.655000	0.94253	TTC		0.353	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	
GDAP2	54834	broad.mit.edu	37	1	118454616	118454616	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118454616G>A	ENST00000369443.5	-	5	808	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	GDAP2_ENST00000369442.3_Splice_Site_p.R187C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	187	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.R187C(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TATTACTTACGAAGTGCTATG	0.403																																					p.R187C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C559T	1						.						100.0	91.0	94.0					1																	118454616		2203	4299	6502	118256139	SO:0001630	splice_region_variant	54834	exon5			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.559+1C>T	1.37:g.118454616G>A			118256139	NM_017686	Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984551	0.74474	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.23950	1.88;1.88	5.22	5.22	0.72569	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67795	-0.5578	9	.	.	.	-9.0828	19.0355	0.92976	0.0:0.0:1.0:0.0	.	187;187	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	C	187	ENSP00000358451:R187C;ENSP00000358450:R187C	.	R	-	1	0	GDAP2	118256139	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.344000	0.65981	2.725000	0.93324	0.644000	0.83932	CGC		0.403	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Missense_Mutation
SPAG17	200162	broad.mit.edu	37	1	118509244	118509244	+	Missense_Mutation	SNP	G	G	T	rs202009513		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118509244G>T	ENST00000336338.5	-	47	6585	c.6520C>A	c.(6520-6522)Cct>Act	p.P2174T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2174						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.P2174T(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCTTCCACAGGTAGGAACAGA	0.413																																					p.P2174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6520A	1						.						147.0	141.0	143.0					1																	118509244		2203	4300	6503	118310767	SO:0001583	missense	200162	exon47				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6520C>A	1.37:g.118509244G>T	ENSP00000337804:p.Pro2174Thr		118310767	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205660	0.79127	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.31510	1.49	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	T	0.43875	0.1267	L	0.53729	1.69	0.35834	D	0.825508	D	0.89917	1.0	D	0.87578	0.998	T	0.45041	-0.9288	10	0.87932	D	0	.	16.3053	0.82846	0.0:0.0:1.0:0.0	.	2174	Q6Q759	SPG17_HUMAN	T	2174;654	ENSP00000337804:P2174T	ENSP00000337804:P2174T	P	-	1	0	SPAG17	118310767	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.647000	0.67923	2.570000	0.86706	0.655000	0.94253	CCT		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118523901	118523901	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118523901G>T	ENST00000336338.5	-	43	6061	c.5996C>A	c.(5995-5997)tCt>tAt	p.S1999Y	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1999						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.S1999Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACCTTCAGGAGATTTTGTTAA	0.398																																					p.S1999Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5996A	1						.						119.0	120.0	120.0					1																	118523901		2203	4300	6503	118325424	SO:0001583	missense	200162	exon43				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5996C>A	1.37:g.118523901G>T	ENSP00000337804:p.Ser1999Tyr		118325424	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119600	0.37436	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.20200	2.09	4.68	2.8	0.32819	.	1.528690	0.03417	N	0.205701	T	0.09202	0.0227	L	0.50333	1.59	0.09310	N	1	P	0.36183	0.542	B	0.34452	0.183	T	0.33317	-0.9873	10	0.72032	D	0.01	.	6.9684	0.24635	0.2092:0.0:0.7908:0.0	.	1999	Q6Q759	SPG17_HUMAN	Y	1999;479	ENSP00000337804:S1999Y	ENSP00000337804:S1999Y	S	-	2	0	SPAG17	118325424	0.185000	0.23213	0.002000	0.10522	0.002000	0.02628	2.777000	0.47717	0.582000	0.29556	-0.142000	0.14014	TCT		0.398	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118530471	118530471	+	Missense_Mutation	SNP	C	C	A	rs115088568	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118530471C>A	ENST00000336338.5	-	40	5720	c.5655G>T	c.(5653-5655)aaG>aaT	p.K1885N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1885						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K1885N(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTTGTCTATCTTTTCTTTCC	0.413																																					p.K1885N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5655T	1						.						181.0	162.0	169.0					1																	118530471		2203	4300	6503	118331994	SO:0001583	missense	200162	exon40				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5655G>T	1.37:g.118530471C>A	ENSP00000337804:p.Lys1885Asn		118331994	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403296	0.25291	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.20881	2.04	3.77	0.864	0.19068	.	0.491288	0.21853	N	0.068153	T	0.06872	0.0175	M	0.68317	2.08	0.21020	N	0.999807	B	0.28552	0.215	B	0.23419	0.046	T	0.23904	-1.0175	10	0.48119	T	0.1	.	3.2931	0.06956	0.2049:0.5744:0.0:0.2207	.	1885	Q6Q759	SPG17_HUMAN	N	1885;365	ENSP00000337804:K1885N	ENSP00000337804:K1885N	K	-	3	2	SPAG17	118331994	0.772000	0.28567	0.312000	0.25196	0.297000	0.27493	1.000000	0.29770	0.198000	0.20407	0.655000	0.94253	AAG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118535239	118535239	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118535239C>T	ENST00000336338.5	-	36	5276	c.5211G>A	c.(5209-5211)caG>caA	p.Q1737Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1737						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q1737Q(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTCCAAATCTGAGTACCAA	0.423																																					p.Q1737Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5211A	1						.						72.0	73.0	72.0					1																	118535239		2203	4300	6503	118336762	SO:0001819	synonymous_variant	200162	exon36				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5211G>A	1.37:g.118535239C>T			118336762	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118558638	118558638	+	Missense_Mutation	SNP	C	C	A	rs371694375		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118558638C>A	ENST00000336338.5	-	29	4302	c.4237G>T	c.(4237-4239)Gac>Tac	p.D1413Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1413						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D1413Y(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGGGTCAAGTCTGCTATTCTT	0.408																																					p.D1413Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4237T	1						.						163.0	175.0	171.0					1																	118558638		2203	4300	6503	118360161	SO:0001583	missense	200162	exon29				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4237G>T	1.37:g.118558638C>A	ENSP00000337804:p.Asp1413Tyr		118360161	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241435	0.22711	.	.	ENSG00000155761	ENST00000336338	T	0.19938	2.11	4.85	2.94	0.34122	.	0.599784	0.17659	N	0.166386	T	0.20820	0.0501	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.04693	-1.0933	10	0.72032	D	0.01	.	8.8126	0.34976	0.0:0.8162:0.0:0.1838	.	1413	Q6Q759	SPG17_HUMAN	Y	1413	ENSP00000337804:D1413Y	ENSP00000337804:D1413Y	D	-	1	0	SPAG17	118360161	0.180000	0.23148	0.007000	0.13788	0.101000	0.19017	0.765000	0.26546	0.441000	0.26529	0.305000	0.20034	GAC		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118584644	118584644	+	Nonsense_Mutation	SNP	G	G	A	rs201253941		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118584644G>A	ENST00000336338.5	-	21	2901	c.2836C>T	c.(2836-2838)Cga>Tga	p.R946*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	946						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R946*(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTGCTAATCGATGTTGCTCT	0.368																																					p.R946X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2836T	1						.						180.0	172.0	175.0					1																	118584644		2203	4300	6503	118386167	SO:0001587	stop_gained	200162	exon21				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2836C>T	1.37:g.118584644G>A	ENSP00000337804:p.Arg946*		118386167	NM_206996	Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	39	7.812121	0.98504	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.36	2.34	0.29019	.	0.136940	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4587	0.61214	0.0:0.0:0.442:0.558	.	.	.	.	X	946	.	ENSP00000337804:R946X	R	-	1	2	SPAG17	118386167	0.029000	0.19370	0.881000	0.34555	0.854000	0.48673	0.901000	0.28445	0.286000	0.22352	-0.188000	0.12872	CGA		0.368	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118598485	118598485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:118598485C>A	ENST00000336338.5	-	19	2658	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	865						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E865*(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATATAGCTTCTTCTTTTGTA	0.338																																					p.E865X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2593T	1						.						114.0	117.0	116.0					1																	118598485		2203	4298	6501	118400008	SO:0001587	stop_gained	200162	exon19				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2593G>T	1.37:g.118598485C>A	ENSP00000337804:p.Glu865*		118400008	NM_206996	Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	36	5.872205	0.97049	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.35	5.35	0.76521	.	0.045994	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.0834	0.81020	0.0:1.0:0.0:0.0	.	.	.	.	X	865	.	ENSP00000337804:E865X	E	-	1	0	SPAG17	118400008	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	3.881000	0.56152	2.784000	0.95788	0.585000	0.79938	GAA		0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
TBX15	6913	broad.mit.edu	37	1	119456754	119456754	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:119456754C>A	ENST00000369429.3	-	6	919	c.910G>T	c.(910-912)Gat>Tat	p.D304Y	TBX15_ENST00000207157.3_Missense_Mutation_p.D198Y			Q96SF7	TBX15_HUMAN	T-box 15	304					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D198Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCCCAGAATCTCTGAATCCT	0.383																																					p.D198Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592T	1						.						121.0	120.0	121.0					1																	119456754		2203	4300	6503	119258277	SO:0001583	missense	6913	exon6			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.910G>T	1.37:g.119456754C>A	ENSP00000358437:p.Asp304Tyr		119258277	NM_152380	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.462091	0.84425	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	D;D	0.90620	-2.7;-2.7	5.68	5.68	0.88126	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97799	1.0243	10	0.87932	D	0	.	19.8002	0.96504	0.0:1.0:0.0:0.0	.	304	Q96SF7	TBX15_HUMAN	Y	68;198;304	ENSP00000207157:D198Y;ENSP00000358437:D304Y	ENSP00000207157:D198Y	D	-	1	0	TBX15	119258277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.465000	0.80898	2.674000	0.91012	0.655000	0.94253	GAT		0.383	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
WARS2	10352	broad.mit.edu	37	1	119619219	119619219	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:119619219C>A	ENST00000235521.4	-	2	128	c.102G>T	c.(100-102)aaG>aaT	p.K34N	WARS2_ENST00000369426.5_Missense_Mutation_p.K34N|WARS2_ENST00000537870.1_5'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	34					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.K34N(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ATACTCGCTTCTTGCTGTCTT	0.448																																					p.K34N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G102T	1						.						117.0	129.0	125.0					1																	119619219		2203	4300	6503	119420742	SO:0001583	missense	10352	exon2			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.102G>T	1.37:g.119619219C>A	ENSP00000235521:p.Lys34Asn		119420742	NM_201263	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	7.123	0.578384	0.13686	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.52754	0.65;0.65	5.78	-0.797	0.10909	.	1.240190	0.05185	N	0.502157	T	0.18841	0.0452	L	0.41079	1.255	0.09310	N	0.999999	B;B;B;B	0.23377	0.084;0.023;0.002;0.023	B;B;B;B	0.22152	0.022;0.038;0.016;0.038	T	0.40213	-0.9575	10	0.59425	D	0.04	-0.3613	6.7756	0.23619	0.1113:0.5031:0.0:0.3856	.	34;34;34;34	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	N	34	ENSP00000358434:K34N;ENSP00000235521:K34N	ENSP00000235521:K34N	K	-	3	2	WARS2	119420742	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.131000	0.15870	0.153000	0.19213	0.591000	0.81541	AAG		0.448	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836	
HSD3B2	3284	broad.mit.edu	37	1	119965219	119965219	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:119965219G>T	ENST00000543831.1	+	4	1344	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	HSD3B2_ENST00000369416.3_Missense_Mutation_p.E365D	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	365					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.E365D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GGCACAAGGAGACCCTGAAGT	0.512																																					p.E365D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1095T	1						.						41.0	38.0	39.0					1																	119965219		2203	4300	6503	119766742	SO:0001583	missense	3284	exon4			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1095G>T	1.37:g.119965219G>T	ENSP00000445122:p.Glu365Asp		119766742	NM_001166120	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	8.944	0.966483	0.18659	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	T;T	0.70869	-0.52;-0.52	4.05	2.1	0.27182	.	0.451094	0.24750	N	0.035909	T	0.47967	0.1474	M	0.69823	2.125	0.09310	N	1	B	0.24368	0.102	B	0.24394	0.053	T	0.45026	-0.9289	9	.	.	.	-16.7288	9.4021	0.38440	0.1832:0.0:0.8168:0.0	.	365	P26439	3BHS2_HUMAN	D	365	ENSP00000445122:E365D;ENSP00000358424:E365D	.	E	+	3	2	HSD3B2	119766742	0.015000	0.18098	0.023000	0.16930	0.687000	0.40016	1.025000	0.30090	0.709000	0.31976	0.298000	0.19748	GAG		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198	
HSD3B1	3283	broad.mit.edu	37	1	120050165	120050165	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120050165C>T	ENST00000369413.3	+	2	211	c.66C>T	c.(64-66)ctC>ctT	p.L22L	HSD3B1_ENST00000528909.1_Silent_p.L22L|HSD3B1_ENST00000235547.6_Silent_p.L24L			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	22					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.L22L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TCATCCGCCTCTTGGTGAAGG	0.522																																					p.L22L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	1						.						133.0	117.0	122.0					1																	120050165		2203	4300	6503	119851688	SO:0001819	synonymous_variant	3283	exon2			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.66C>T	1.37:g.120050165C>T			119851688	NM_000862	A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	CCDS903.1																																																																																				0.522	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
ZNF697	90874	broad.mit.edu	37	1	120165628	120165628	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120165628G>A	ENST00000421812.2	-	3	1457	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	446					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.F37F(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AGTTACGCCCGAAGCCCTTCC	0.667																																					p.F446F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	1						.						18.0	21.0	20.0					1																	120165628		2187	4293	6480	119967151	SO:0001819	synonymous_variant	90874	exon3			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1338C>T	1.37:g.120165628G>A			119967151	NM_001080470	Q96IT2	Silent	SNP	ENST00000421812.2	37	CCDS44202.1																																																																																				0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286	
HMGCS2	3158	broad.mit.edu	37	1	120311388	120311388	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120311388C>T	ENST00000369406.3	-	1	129	c.80G>A	c.(79-81)cGc>cAc	p.R27H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R27H	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	27					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.R27H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGGGAGCAGGCGAGCAGGTGT	0.502																																					p.R27H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	1						.						89.0	81.0	84.0					1																	120311388		2203	4300	6503	120112911	SO:0001583	missense	3158	exon1			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.80G>A	1.37:g.120311388C>T	ENSP00000358414:p.Arg27His		120112911	NM_001166107	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118236	0.37339	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.90732	-2.72;-2.48	4.32	0.072	0.14385	.	0.678764	0.13000	N	0.421716	T	0.56187	0.1968	N	0.12182	0.205	0.09310	N	0.99999	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.51020	-0.8758	10	0.12103	T	0.63	-10.1781	3.569	0.07910	0.1779:0.5183:0.0:0.3038	.	27;27	B7Z8R3;P54868	.;HMCS2_HUMAN	H	27	ENSP00000358414:R27H;ENSP00000439495:R27H	ENSP00000358414:R27H	R	-	2	0	HMGCS2	120112911	0.026000	0.19158	0.028000	0.17463	0.641000	0.38312	-0.099000	0.11007	-0.084000	0.12595	0.491000	0.48974	CGC		0.502	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518	
REG4	83998	broad.mit.edu	37	1	120342483	120342483	+	Silent	SNP	G	G	A	rs587636387	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120342483G>A	ENST00000354219.1	-	5	607	c.168C>T	c.(166-168)ctC>ctT	p.L56L	REG4_ENST00000530654.1_Silent_p.L56L|REG4_ENST00000256585.5_Silent_p.L56L	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	56	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|mannan binding (GO:2001065)	p.L56L(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ACTGACACTCGAGCTATGTAC	0.512													G|||	3	0.000599042	0.0	0.0	5008	,	,		21107	0.003		0.0	False		,,,				2504	0.0				p.L56L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	1						.						180.0	169.0	173.0					1																	120342483		2203	4300	6503	120144006	SO:0001819	synonymous_variant	83998	exon4			AY007243	CCDS906.1, CCDS53354.1	1p13.1-p12	2008-02-05			ENSG00000134193	ENSG00000134193			22977	protein-coding gene	gene with protein product	"""regenerating gene type IV"", "" gastrointestinal secretory protein"""	609846				11311942, 12455032	Standard	NM_032044		Approved	REG-IV, RELP, GISP	uc001eif.3	Q9BYZ8	OTTHUMG00000012175	ENST00000354219.1:c.168C>T	1.37:g.120342483G>A			120144006	NM_032044	Q8NER6|Q8NER7	Silent	SNP	ENST00000354219.1	37	CCDS906.1																																																																																				0.512	REG4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033675.1	NM_032044	
ADAM30	11085	broad.mit.edu	37	1	120438019	120438019	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120438019G>T	ENST00000369400.1	-	1	1099	c.941C>A	c.(940-942)tCt>tAt	p.S314Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	314	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S314Y(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATATTCTAGAGAACACACTTT	0.403																																					p.S314Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C941A	1						.						83.0	83.0	83.0					1																	120438019		2203	4300	6503	120239542	SO:0001583	missense	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.941C>A	1.37:g.120438019G>T	ENSP00000358407:p.Ser314Tyr		120239542	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902868	0.33628	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.12039	2.72	4.78	-5.62	0.02481	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.802300	0.01458	U	0.015758	T	0.05502	0.0145	L	0.49126	1.545	0.09310	N	1	B	0.19935	0.04	B	0.29663	0.105	T	0.49390	-0.8945	10	0.59425	D	0.04	.	8.7689	0.34719	0.0:0.4524:0.1803:0.3673	.	314	Q9UKF2	ADA30_HUMAN	Y	314	ENSP00000358407:S314Y	ENSP00000358407:S314Y	S	-	2	0	ADAM30	120239542	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.708000	0.05035	-0.734000	0.04843	0.563000	0.77884	TCT		0.403	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
ADAM30	11085	broad.mit.edu	37	1	120438101	120438101	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120438101G>A	ENST00000369400.1	-	1	1017	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R287C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GATGACAGGCGAGCATTTAAT	0.343																																					p.R287C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C859T	1						.						40.0	44.0	43.0					1																	120438101		2202	4300	6502	120239624	SO:0001583	missense	11085	exon1			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.859C>T	1.37:g.120438101G>A	ENSP00000358407:p.Arg287Cys		120239624	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689446	0.48097	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.66995	-0.24	4.96	2.94	0.34122	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.644830	0.12530	U	0.460901	T	0.71022	0.3291	M	0.88031	2.925	0.09310	N	1	P	0.51791	0.948	P	0.55161	0.77	T	0.63014	-0.6731	10	0.87932	D	0	.	10.3305	0.43820	0.0:0.0:0.6079:0.3921	.	287	Q9UKF2	ADA30_HUMAN	C	287	ENSP00000358407:R287C	ENSP00000358407:R287C	R	-	1	0	ADAM30	120239624	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	0.527000	0.22987	1.008000	0.39264	0.563000	0.77884	CGC		0.343	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
TNFRSF8	943	broad.mit.edu	37	1	12183391	12183391	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12183391C>T	ENST00000263932.2	+	9	1219	c.997C>T	c.(997-999)Ccg>Tcg	p.P333S	TNFRSF8_ENST00000413146.2_5'Flank|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P222S	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	333					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.P333S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGGGACCCAGCCGGACTGCAA	0.642																																					p.P333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	1						.						30.0	31.0	30.0					1																	12183391		2203	4299	6502	12105978	SO:0001583	missense	943	exon9			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.997C>T	1.37:g.12183391C>T	ENSP00000263932:p.Pro333Ser		12105978	NM_001243	B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686094	0.29962	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.38560	1.13;1.13	3.15	2.22	0.28083	.	1009.050000	0.00166	N	0.000000	T	0.49830	0.1580	L	0.41492	1.28	0.09310	N	1	D;P	0.89917	1.0;0.833	D;B	0.71414	0.973;0.376	T	0.53892	-0.8374	10	0.02654	T	1	-3.0E-4	6.6268	0.22835	0.0:0.8662:0.0:0.1338	.	222;333	D3YTD8;P28908	.;TNR8_HUMAN	S	333;222	ENSP00000263932:P333S;ENSP00000390650:P222S	ENSP00000263932:P333S	P	+	1	0	TNFRSF8	12105978	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	0.050000	0.14120	0.906000	0.36621	0.561000	0.74099	CCG		0.642	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
VPS13D	55187	broad.mit.edu	37	1	12343196	12343196	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12343196G>T	ENST00000358136.3	+	21	5167	c.5037G>T	c.(5035-5037)aaG>aaT	p.K1679N	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1679N	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.K1679N(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATTGGAGAAGAATCCAGATT	0.433																																					p.K1679N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5037T	1						.						112.0	120.0	117.0					1																	12343196		2203	4300	6503	12265783	SO:0001583	missense	55187	exon21			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5037G>T	1.37:g.12343196G>T	ENSP00000350854:p.Lys1679Asn		12265783	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692200|1.692200	0.30052|0.30052	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.54071|.	0.59;0.59|.	5.89|5.89	-4.47|-4.47	0.03525|0.03525	.|.	0.212351|.	0.47852|.	D|.	0.000202|.	T|T	0.58163|0.58163	0.2103|0.2103	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B|.	0.30973|.	0.302;0.201|.	B;B|.	0.29942|.	0.109;0.051|.	T|T	0.56117|0.56117	-0.8032|-0.8032	10|5	0.22706|.	T|.	0.39|.	.|.	17.2985|17.2985	0.87175|0.87175	0.3289:0.0:0.6711:0.0|0.3289:0.0:0.6711:0.0	.|.	1679;1679|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	N|I	1679|502	ENSP00000348666:K1679N;ENSP00000350854:K1679N|.	ENSP00000348666:K1679N|.	K|R	+|+	3|2	2|0	VPS13D|VPS13D	12265783|12265783	0.096000|0.096000	0.21769|0.21769	0.967000|0.967000	0.41034|0.41034	0.961000|0.961000	0.63080|0.63080	-0.449000|-0.449000	0.06812|0.06812	-0.687000|-0.687000	0.05162|0.05162	-1.166000|-1.166000	0.01754|0.01754	AAG|AGA		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
AADACL3	126767	broad.mit.edu	37	1	12779665	12779665	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12779665C>T	ENST00000359318.5	+	2	391	c.186C>T	c.(184-186)caC>caT	p.H62H	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	62							hydrolase activity (GO:0016787)	p.H62H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTACTACCACGGTGGCGGGG	0.527																																					p.H62H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	1						.						74.0	77.0	76.0					1																	12779665		1942	4145	6087	12702252	SO:0001819	synonymous_variant	126767	exon2				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.186C>T	1.37:g.12779665C>T			12702252	NM_001103170	B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	CCDS41253.1																																																																																				0.527	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170	
AADACL3	126767	broad.mit.edu	37	1	12785455	12785455	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12785455A>C	ENST00000359318.5	+	4	750	c.545A>C	c.(544-546)aAa>aCa	p.K182T	AADACL3_ENST00000332530.3_Missense_Mutation_p.K112T	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	182							hydrolase activity (GO:0016787)	p.K182T(1)|p.K112T(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAACAGAGGAAAAACATCCCA	0.498																																					p.K112T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A335C	1						.						184.0	173.0	176.0					1																	12785455		1880	4102	5982	12708042	SO:0001583	missense	126767	exon3				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.545A>C	1.37:g.12785455A>C	ENSP00000352268:p.Lys182Thr		12708042	NM_001103169	B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.437476	0.25900	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.11495	2.77;2.77	5.35	-5.14	0.02875	Alpha/beta hydrolase fold-3 (1);	1.283390	0.04994	N	0.467920	T	0.09247	0.0228	L	0.39633	1.23	0.09310	N	1	B;B	0.30634	0.154;0.288	B;B	0.36186	0.219;0.091	T	0.35226	-0.9797	10	0.19147	T	0.46	-0.0613	6.1592	0.20354	0.2382:0.1194:0.5259:0.1165	.	182;112	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	T	112;182	ENSP00000333352:K112T;ENSP00000352268:K182T	ENSP00000333352:K112T	K	+	2	0	AADACL3	12708042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.712000	0.05013	-1.393000	0.02079	-1.922000	0.00515	AAA		0.498	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170	
PRAMEF12	390999	broad.mit.edu	37	1	12835860	12835860	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12835860G>T	ENST00000357726.4	+	2	489	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	154					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.K154N(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTCAAGAATGGGATGC	0.537																																					p.K154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G462T	1						.						117.0	124.0	122.0					1																	12835860		2203	4300	6503	12758447	SO:0001583	missense	390999	exon2				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.462G>T	1.37:g.12835860G>T	ENSP00000350358:p.Lys154Asn		12758447	NM_001080830		Missense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	12.04	1.818368	0.32145	.	.	ENSG00000116726	ENST00000357726	T	0.00824	5.65	2.8	-2.1	0.07210	.	1.757830	0.02967	N	0.143886	T	0.03305	0.0096	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.37572	-0.9700	10	0.35671	T	0.21	.	2.6404	0.04969	0.252:0.0:0.3634:0.3847	.	154	O95522	PRA12_HUMAN	N	154	ENSP00000350358:K154N	ENSP00000350358:K154N	K	+	3	2	PRAMEF12	12758447	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.845000	0.01677	-0.462000	0.06984	0.313000	0.20887	AAG		0.537	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
PRAMEF1	65121	broad.mit.edu	37	1	12854441	12854441	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12854441G>T	ENST00000332296.7	+	3	768	c.665G>T	c.(664-666)aGa>aTa	p.R222I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	222					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R222I(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCTGATAAGAAAGCTTCGT	0.403																																					p.R222I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G665T	1						.						256.0	239.0	245.0					1																	12854441		2203	4300	6503	12777028	SO:0001583	missense	65121	exon3			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.665G>T	1.37:g.12854441G>T	ENSP00000332134:p.Arg222Ile		12777028	NM_023013	Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	5.967	0.362324	0.11296	.	.	ENSG00000116721	ENST00000332296	T	0.00976	5.48	0.401	0.401	0.16338	.	0.654334	0.13897	N	0.355156	T	0.00666	0.0022	N	0.22421	0.69	0.09310	N	1	P	0.45126	0.851	B	0.33750	0.169	T	0.55328	-0.8158	9	0.51188	T	0.08	.	.	.	.	.	222	O95521	PRAM1_HUMAN	I	222	ENSP00000332134:R222I	ENSP00000332134:R222I	R	+	2	0	PRAMEF1	12777028	0.000000	0.05858	0.005000	0.12908	0.009000	0.06853	-0.096000	0.11059	0.436000	0.26393	0.436000	0.28706	AGA		0.403	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
PRAMEF2	65122	broad.mit.edu	37	1	12919830	12919830	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12919830G>A	ENST00000240189.2	+	3	657	c.570G>A	c.(568-570)acG>acA	p.T190T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTAACGCCAATTAAAT	0.398																																					p.T190T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	1						.						162.0	177.0	172.0					1																	12919830		2202	4294	6496	12842417	SO:0001819	synonymous_variant	65122	exon3				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.570G>A	1.37:g.12919830G>A			12842417	NM_023014		Silent	SNP	ENST00000240189.2	37	CCDS149.1																																																																																				0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PRAMEF4	400735	broad.mit.edu	37	1	12941936	12941936	+	Missense_Mutation	SNP	T	T	C	rs145441347	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12941936T>C	ENST00000235349.5	-	3	684	c.614A>G	c.(613-615)aAc>aGc	p.N205S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	205					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.N205S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTCTAGGTTCACCATTTT	0.463													t|||	4	0.000798722	0.003	0.0	5008	,	,		21308	0.0		0.0	False		,,,				2504	0.0				p.N205S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614G	1						.	C	SER/ASN	10,2738		1,8,1365	73.0	92.0	85.0		614	1.5	0.0	1	dbSNP_134	85	0,4766		0,0,2383	no	missense	PRAMEF4	NM_001009611.2	46	1,8,3748	CC,CT,TT		0.0,0.3639,0.1331	possibly-damaging	205/479	12941936	10,7504	1374	2383	3757	12864523	SO:0001583	missense	400735	exon3				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.614A>G	1.37:g.12941936T>C	ENSP00000235349:p.Asn205Ser		12864523	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	5.004	0.186349	0.09495	0.003639	0.0	ENSG00000243073	ENST00000235349	T	0.01051	5.4	1.48	1.48	0.22813	.	1.277390	0.05377	N	0.536443	T	0.01835	0.0058	M	0.61703	1.905	0.09310	N	1	B	0.21821	0.061	B	0.16289	0.015	T	0.46555	-0.9183	10	0.41790	T	0.15	.	5.1316	0.14913	0.0:0.0:0.0:1.0	.	205	O60810	PRAM4_HUMAN	S	205	ENSP00000235349:N205S	ENSP00000235349:N205S	N	-	2	0	PRAMEF4	12864523	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	0.673000	0.25203	0.939000	0.37446	0.329000	0.21502	AAC		0.463	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
PRAMEF10	343071	broad.mit.edu	37	1	12952819	12952819	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12952819G>T	ENST00000235347.4	-	4	1432	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	451					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.F451L(1)		NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGACCAAAGAAGATCCTCT	0.537																																					p.F451L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1353A	1						.						44.0	48.0	47.0					1																	12952819		1973	4163	6136	12875406	SO:0001583	missense	343071	exon4			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.1353C>A	1.37:g.12952819G>T	ENSP00000235347:p.Phe451Leu		12875406	NM_001039361	Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.369176	0.01225	.	.	ENSG00000187545	ENST00000235347	T	0.44083	0.93	1.45	-2.9	0.05648	.	1.392000	0.04973	N	0.464164	T	0.26195	0.0639	L	0.35414	1.06	0.09310	N	1	B	0.16802	0.019	B	0.18871	0.023	T	0.08310	-1.0728	10	0.23302	T	0.38	.	0.5638	0.00684	0.2793:0.198:0.3261:0.1966	.	451	O60809	PRA10_HUMAN	L	451	ENSP00000235347:F451L	ENSP00000235347:F451L	F	-	3	2	PRAMEF10	12875406	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.161000	0.01278	-2.458000	0.00538	-1.050000	0.02344	TTC		0.537	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342	
PRAMEF7	441871	broad.mit.edu	37	1	12979808	12979808	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:12979808T>G	ENST00000361079.2	+	4	1083	c.1000T>G	c.(1000-1002)Ttc>Gtc	p.F334V	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	334					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.F334V(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGACCCATTTCAGCCCTGA	0.582																																					p.F334V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1000G	1						.						147.0	132.0	137.0					1																	12979808		2201	4297	6498	12902395	SO:0001583	missense	391002	exon3				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1000T>G	1.37:g.12979808T>G	ENSP00000354371:p.Phe334Val		12902395	NM_001012277	B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	1.576	-0.532744	0.04112	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.07908	3.15;3.15	1.68	-1.17	0.09648	.	1.397780	0.04529	N	0.385999	T	0.05227	0.0139	N	0.25245	0.725	0.09310	N	1	B	0.25441	0.126	B	0.22386	0.039	T	0.38993	-0.9635	10	0.25751	T	0.34	.	2.1167	0.03715	0.2652:0.3667:0.0:0.3681	.	334	Q5VXH5	PRAM7_HUMAN	V	334	ENSP00000354371:F334V;ENSP00000328915:F334V	ENSP00000328915:F334V	F	+	1	0	PRAMEF7	12902395	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.157000	0.10085	-0.312000	0.08741	0.254000	0.18369	TTC		0.582	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277	
PRAMEF13	400736	broad.mit.edu	37	1	13448321	13448321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:13448321C>T	ENST00000376132.3	-	4	1256	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	385					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.G385D(1)		breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAATTTCTGCCAAAGTAGAA	0.562																																					p.G337D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	1						.						43.0	42.0	42.0					1																	13448321		2202	4295	6497	13320908	SO:0001583	missense	729528	exon4					1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.1154G>A	1.37:g.13448321C>T	ENSP00000365302:p.Gly385Asp		13320908	NM_001099854		Missense_Mutation	SNP	ENST00000376132.3	37	CCDS41257.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.695447	0.00731	.	.	ENSG00000204495	ENST00000376132	T	0.12774	2.65	1.2	-1.61	0.08399	.	1.398020	0.04253	N	0.338926	T	0.14743	0.0356	N	0.14661	0.345	0.09310	N	1	P;D	0.69078	0.82;0.997	P;P	0.58780	0.527;0.845	T	0.15549	-1.0433	10	0.37606	T	0.19	.	5.0833	0.14668	0.5975:0.4025:0.0:0.0	.	385;385	Q5VWM6;A6NFR9	PRA13_HUMAN;.	D	385	ENSP00000365302:G385D	ENSP00000365302:G385D	G	-	2	0	PRAMEF13	13320908	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.181000	0.09740	-0.507000	0.06549	-0.887000	0.02937	GGC		0.562	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688	
PRDM2	7799	broad.mit.edu	37	1	14108128	14108128	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:14108128A>G	ENST00000235372.7	+	8	4694	c.3838A>G	c.(3838-3840)Ata>Gta	p.I1280V	PRDM2_ENST00000343137.4_Missense_Mutation_p.I1079V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.I1079V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.I1280V|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.I1280V(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGCTTCTGGAATAAAGACAAA	0.408																																					p.I1079V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3235G	1						.						86.0	96.0	93.0					1																	14108128		2203	4300	6503	13980715	SO:0001583	missense	7799	exon3			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3838A>G	1.37:g.14108128A>G	ENSP00000235372:p.Ile1280Val		13980715	NM_001007257	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	5.157	0.214493	0.09810	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01397	5.07;4.94;4.95;4.95	6.17	3.86	0.44501	.	0.284442	0.38778	N	0.001567	T	0.00695	0.0023	N	0.02539	-0.55	0.29609	N	0.847114	B;B;B	0.16802	0.019;0.001;0.002	B;B;B	0.15052	0.012;0.001;0.002	T	0.39375	-0.9617	10	0.25751	T	0.34	.	4.9635	0.14078	0.6528:0.0:0.3472:0.0	.	1138;1280;1280	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	V	1280;1280;1280;1079;1079	ENSP00000235372:I1280V;ENSP00000312352:I1280V;ENSP00000411103:I1079V;ENSP00000341621:I1079V	ENSP00000235372:I1280V	I	+	1	0	PRDM2	13980715	0.998000	0.40836	1.000000	0.80357	0.884000	0.51177	2.323000	0.43823	1.153000	0.42468	-0.264000	0.10439	ATA		0.408	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
NOTCH2	4853	broad.mit.edu	37	1	120459239	120459239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:120459239G>A	ENST00000256646.2	-	34	6325	c.6106C>T	c.(6106-6108)Cga>Tga	p.R2036*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2036					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R2036*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGATGTCTCGATTGGCAAAA	0.527			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.R2036X			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6106T	1						.						70.0	63.0	65.0					1																	120459239		2203	4300	6503	120260762	SO:0001587	stop_gained	4853	exon34	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6106C>T	1.37:g.120459239G>A	ENSP00000256646:p.Arg2036*		120260762	NM_024408	Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	47	13.242336	0.99729	.	.	ENSG00000134250	ENST00000256646	.	.	.	5.84	5.84	0.93424	.	0.000000	0.33938	U	0.004416	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1228	0.93371	0.0:0.0:1.0:0.0	.	.	.	.	X	2036	.	ENSP00000256646:R2036X	R	-	1	2	NOTCH2	120260762	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.528000	0.67129	2.765000	0.95021	0.655000	0.94253	CGA		0.527	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	broad.mit.edu	37	1	145075756	145075756	+	Missense_Mutation	SNP	G	G	A	rs587728009		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145075756G>A	ENST00000530740.1	-	1	145	c.107C>T	c.(106-108)gCg>gTg	p.A36V	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.A36V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A36V|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.A36V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A36V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTCGCGTCGCGTCCCCGGA	0.726			T	PDGFRB	MPD																																p.A36V			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107T	1						.						42.0	54.0	50.0					1																	145075756		2203	4298	6501	143787113	SO:0001583	missense	9659	exon1			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.107C>T	1.37:g.145075756G>A	ENSP00000435654:p.Ala36Val		143787113	NM_022359	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37		.	.	.	.	.	.	.	.	.	.	G	13.39	2.222121	0.39300	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.08807	4.75;4.75;3.05	3.4	1.23	0.21249	.	.	.	.	.	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	P;P	0.43352	0.78;0.804	B;B	0.34038	0.174;0.039	T	0.48163	-0.9059	9	0.38643	T	0.18	.	9.1142	0.36746	0.0:0.4981:0.5019:0.0	.	36;36	Q5TB27;E9PJ64	.;.	V	36	ENSP00000435654:A36V;ENSP00000358366:A36V;ENSP00000358354:A36V	ENSP00000358351:A36V	A	-	2	0	PDE4DIP	143787113	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	0.069000	0.14552	0.723000	0.32274	-0.416000	0.06073	GCG		0.726	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359	
SEC22B	9554	broad.mit.edu	37	1	145115872	145115872	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145115872C>T	ENST00000453618.1	+	0	958							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGTGTATGTCCGATTCTGGTG	0.418																																					p.R211X												.	.	0			c.C631T	1						.						212.0	211.0	211.0					1																	145115872		1998	4184	6182	143827229			9554	exon5			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115872C>T			143827229	NM_004892	A8K1G0	Nonsense_Mutation	SNP	ENST00000453618.1	37																																																																																					0.418	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892	
NOTCH2NL	388677	broad.mit.edu	37	1	145281451	145281451	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145281451C>T	ENST00000369340.3	+	5	825	c.381C>T	c.(379-381)ttC>ttT	p.F127F	RP11-458D21.5_ENST00000468030.1_Silent_p.F127F|NOTCH2NL_ENST00000344859.3_Silent_p.F127F|NOTCH2NL_ENST00000362074.6_Silent_p.F127F			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	127	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F127F(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCAACCAGTTCTCCTGCAAAT	0.522																																					p.F127F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C381T	1						.																																			143992808	SO:0001819	synonymous_variant	388677	exon4				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.381C>T	1.37:g.145281451C>T			143992808	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	CCDS909.1																																																																																				0.522	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458	
HFE2	148738	broad.mit.edu	37	1	145415515	145415515	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145415515G>T	ENST00000336751.5	+	3	572	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	112					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.D112Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCATCGAAGACCTGATGAT	0.731																																					p.D112Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334T	1						.						36.0	39.0	38.0					1																	145415515		2203	4298	6501	144126872	SO:0001583	missense	148738	exon3			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.334G>T	1.37:g.145415515G>T	ENSP00000337014:p.Asp112Tyr		144126872	NM_213653	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898046	0.91962	.	.	ENSG00000168509	ENST00000336751	D	0.97731	-4.51	4.72	4.72	0.59763	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98342	1.0539	10	0.48119	T	0.1	-20.4887	15.2193	0.73299	0.0:0.0:1.0:0.0	.	112	Q6ZVN8	RGMC_HUMAN	Y	112	ENSP00000337014:D112Y	ENSP00000337014:D112Y	D	+	1	0	HFE2	144126872	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.430000	0.90283	2.442000	0.82660	0.558000	0.71614	GAC		0.731	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277	
LIX1L	128077	broad.mit.edu	37	1	145492276	145492276	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145492276G>T	ENST00000369308.3	+	3	572	c.498G>T	c.(496-498)aaG>aaT	p.K166N	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000366105.2_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	166								p.K166N(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGCTGCAAAGATTGCGCTAA	0.458																																					p.K166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	1						.						99.0	100.0	100.0					1																	145492276		2203	4300	6503	144203633	SO:0001583	missense	128077	exon3			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.498G>T	1.37:g.145492276G>T	ENSP00000358314:p.Lys166Asn		144203633	NM_153713	Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229981	0.79688	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	T	0.64991	-0.13	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.76838	2.35	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.78588	-0.2146	10	0.87932	D	0	-32.9431	15.5426	0.76066	0.0:0.0:1.0:0.0	.	166	Q8IVB5	LIX1L_HUMAN	N	166;113	ENSP00000358314:K166N	ENSP00000358314:K166N	K	+	3	2	LIX1L	144203633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.778000	0.47726	2.611000	0.88343	0.563000	0.77884	AAG		0.458	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713	
LIX1L	128077	broad.mit.edu	37	1	145498745	145498745	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145498745G>A	ENST00000369308.3	+	6	1055	c.981G>A	c.(979-981)ggG>ggA	p.G327G	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	327								p.G327G(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCTGCTGGGCAGTTGGGCA	0.517																																					p.G327G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G981A	1						.						46.0	45.0	45.0					1																	145498745		2203	4300	6503	144210102	SO:0001819	synonymous_variant	128077	exon6			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.981G>A	1.37:g.145498745G>A			144210102	NM_153713	Q6AI36	Silent	SNP	ENST00000369308.3	37	CCDS915.1																																																																																				0.517	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713	
ITGA10	8515	broad.mit.edu	37	1	145538015	145538015	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145538015T>G	ENST00000369304.3	+	22	2869	c.2694T>G	c.(2692-2694)ttT>ttG	p.F898L	ITGA10_ENST00000539363.1_Missense_Mutation_p.F755L|ITGA10_ENST00000538811.1_Missense_Mutation_p.F767L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	898					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.F898L(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTTGAGTTTAGCTGCTCCT	0.522																																					p.F898L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2694G	1						.						220.0	205.0	210.0					1																	145538015		2203	4300	6503	144249372	SO:0001583	missense	8515	exon22			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2694T>G	1.37:g.145538015T>G	ENSP00000358310:p.Phe898Leu		144249372	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394118	0.83011	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.43688	0.94;0.94;0.94	5.71	-1.22	0.09494	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	L	0.58810	1.83	0.46654	D	0.999141	P;P;D;P	0.76494	0.907;0.907;0.999;0.924	P;P;D;P	0.80764	0.747;0.664;0.994;0.823	T	0.39502	-0.9611	10	0.56958	D	0.05	.	4.923	0.13880	0.1685:0.48:0.0:0.3515	.	864;767;755;898	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	L	898;864;755;767	ENSP00000358310:F898L;ENSP00000439894:F755L;ENSP00000440011:F767L	ENSP00000358310:F898L	F	+	3	2	ITGA10	144249372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.661000	0.37408	0.060000	0.16281	0.533000	0.62120	TTT		0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ITGA10	8515	broad.mit.edu	37	1	145538748	145538748	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145538748G>T	ENST00000369304.3	+	24	3034	c.2859G>T	c.(2857-2859)gaG>gaT	p.E953D	ITGA10_ENST00000539363.1_Missense_Mutation_p.E810D|ITGA10_ENST00000538811.1_Missense_Mutation_p.E822D|RP11-315I20.3_ENST00000415065.2_RNA	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	953					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.E953D(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGCTATGAGGTTCACCCAT	0.537																																					p.E953D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2859T	1						.						77.0	66.0	70.0					1																	145538748		2203	4300	6503	144250105	SO:0001583	missense	8515	exon24			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2859G>T	1.37:g.145538748G>T	ENSP00000358310:p.Glu953Asp		144250105	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466441	0.43839	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.46063	0.88;0.88;0.88	5.44	0.409	0.16382	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.57536	1.79	0.46874	D	0.999235	P;P;D;P	0.76494	0.603;0.907;0.999;0.655	B;P;D;P	0.83275	0.399;0.615;0.996;0.534	T	0.26087	-1.0113	10	0.24483	T	0.36	.	8.9246	0.35632	0.3892:0.0:0.6108:0.0	.	919;822;810;953	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	D	953;919;810;822	ENSP00000358310:E953D;ENSP00000439894:E810D;ENSP00000440011:E822D	ENSP00000358310:E953D	E	+	3	2	ITGA10	144250105	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	1.271000	0.33098	-0.062000	0.13088	-0.140000	0.14226	GAG		0.537	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
ANKRD35	148741	broad.mit.edu	37	1	145561582	145561582	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145561582G>A	ENST00000355594.4	+	10	1357	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	424								p.E424K(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAACCAGAAGAACAGGGGCC	0.552																																					p.E424K	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1270A	1						.						58.0	69.0	65.0					1																	145561582		2203	4300	6503	144272939	SO:0001583	missense	148741	exon10			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1270G>A	1.37:g.145561582G>A	ENSP00000347802:p.Glu424Lys		144272939	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	6.172	0.399827	0.11696	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.67345	-0.26	5.63	2.64	0.31445	.	0.396851	0.21411	N	0.074972	T	0.31857	0.0810	L	0.51422	1.61	0.09310	N	0.999997	B	0.09022	0.002	B	0.10450	0.005	T	0.27226	-1.0080	10	0.11182	T	0.66	-4.4324	8.3572	0.32338	0.0809:0.2922:0.6269:0.0	.	424	Q8N283	ANR35_HUMAN	K	333;424	ENSP00000347802:E424K	ENSP00000347802:E424K	E	+	1	0	ANKRD35	144272939	0.936000	0.31750	0.014000	0.15608	0.189000	0.23516	2.495000	0.45337	0.381000	0.24851	0.655000	0.94253	GAA		0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
ANKRD35	148741	broad.mit.edu	37	1	145562160	145562160	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145562160G>T	ENST00000355594.4	+	10	1935	c.1848G>T	c.(1846-1848)gaG>gaT	p.E616D		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	616								p.E616D(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAGAAGGAGATGTCAGTAC	0.597																																					p.E616D	Melanoma(9;127 754 22988 51047)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1848T	1						.						44.0	50.0	48.0					1																	145562160		2203	4300	6503	144273517	SO:0001583	missense	148741	exon10			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1848G>T	1.37:g.145562160G>T	ENSP00000347802:p.Glu616Asp		144273517	NM_144698	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937014	0.34189	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54071	0.59	4.73	2.76	0.32466	.	0.000000	0.48286	D	0.000190	T	0.53626	0.1808	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.53535	-0.8425	10	0.36615	T	0.2	-27.9395	6.6501	0.22957	0.2315:0.0:0.7685:0.0	.	616	Q8N283	ANR35_HUMAN	D	525;616	ENSP00000347802:E616D	ENSP00000347802:E616D	E	+	3	2	ANKRD35	144273517	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.783000	0.47766	0.537000	0.28751	-0.345000	0.07892	GAG		0.597	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
CD160	11126	broad.mit.edu	37	1	145704139	145704139	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:145704139G>T	ENST00000369288.2	-	4	495	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	CD160_ENST00000235933.6_Missense_Mutation_p.S93Y|CD160_ENST00000369290.1_Intron|CD160_ENST00000401557.3_Missense_Mutation_p.S93Y	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	93	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S93Y(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CATCAACTGAGATGATATTTC	0.488																																					p.S93Y	Colon(182;1122 1999 4065 44014 53024)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278A	1						.						128.0	116.0	120.0					1																	145704139		2203	4300	6503	144415496	SO:0001583	missense	11126	exon4			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.278C>A	1.37:g.145704139G>T	ENSP00000358294:p.Ser93Tyr		144415496	NM_007053		Missense_Mutation	SNP	ENST00000369288.2	37	CCDS923.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833512	0.32421	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	T;T;T	0.03496	3.91;3.91;3.91	4.34	4.34	0.51931	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.189889	0.26248	N	0.025464	T	0.04407	0.0121	L	0.32530	0.975	0.21105	N	0.999783	D	0.76494	0.999	D	0.64237	0.923	T	0.20273	-1.0280	10	0.87932	D	0	-4.1596	12.2039	0.54340	0.0:0.0:1.0:0.0	.	93	O95971	BY55_HUMAN	Y	93	ENSP00000235933:S93Y;ENSP00000358294:S93Y;ENSP00000385199:S93Y	ENSP00000235933:S93Y	S	-	2	0	CD160	144415496	0.005000	0.15991	0.615000	0.29064	0.023000	0.10783	1.515000	0.35845	2.245000	0.73994	0.563000	0.77884	TCT		0.488	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053	
FMO5	2330	broad.mit.edu	37	1	146673043	146673043	+	Missense_Mutation	SNP	G	G	T	rs143729816		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:146673043G>T	ENST00000254090.4	-	7	1262	c.874C>A	c.(874-876)Cgt>Agt	p.R292S	RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.R292S	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	292						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.R292S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAAATGATACGATTTGGCAGG	0.448																																					p.R292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874A	1						.						72.0	71.0	71.0					1																	146673043		2203	4300	6503	145139667	SO:0001583	missense	2330	exon7			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.874C>A	1.37:g.146673043G>T	ENSP00000254090:p.Arg292Ser		145139667	NM_001461	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	18.45	3.626805	0.66901	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.53640	0.61;0.61	6.17	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	M	0.74258	2.255	0.80722	D	1	P;D	0.53885	0.661;0.963	P;P	0.60345	0.657;0.873	T	0.52102	-0.8620	9	.	.	.	-2.5869	9.1547	0.36985	0.1453:0.0:0.7265:0.1282	.	292;292	P49326;C9JJD1	FMO5_HUMAN;.	S	292	ENSP00000416011:R292S;ENSP00000254090:R292S	.	R	-	1	0	FMO5	145139667	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.116000	0.41930	0.946000	0.37632	0.655000	0.94253	CGT		0.448	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461	
CHD1L	9557	broad.mit.edu	37	1	146736083	146736083	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:146736083C>T	ENST00000369258.4	+	7	599	c.579C>T	c.(577-579)ttC>ttT	p.F193F	CHD1L_ENST00000431239.1_Silent_p.F193F|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	193	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.F193F(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTTGAGTTCTCAGTAGTCT	0.433																																					p.F193F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	1						.						42.0	38.0	40.0					1																	146736083		2202	4297	6499	145202707	SO:0001819	synonymous_variant	9557	exon7			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.579C>T	1.37:g.146736083C>T			145202707	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	CCDS927.1																																																																																				0.433	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
CHD1L	9557	broad.mit.edu	37	1	146766156	146766156	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:146766156C>A	ENST00000369258.4	+	22	2592	c.2572C>A	c.(2572-2574)Ctt>Att	p.L858I	CHD1L_ENST00000431239.1_Missense_Mutation_p.L764I|CHD1L_ENST00000361293.5_Missense_Mutation_p.L577I|CHD1L_ENST00000369259.3_Missense_Mutation_p.L654I|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	858	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L858I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACTGAGCGACTTATTCGGAA	0.428																																					p.L858I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2572A	1						.						281.0	241.0	255.0					1																	146766156		2203	4300	6503	145232780	SO:0001583	missense	9557	exon22			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2572C>A	1.37:g.146766156C>A	ENSP00000358262:p.Leu858Ile		145232780	NM_004284	A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658417	0.88154	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.7	5.7	0.88788	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.41356	1.27	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.971;0.998;0.931	T	0.49615	-0.8921	10	0.72032	D	0.01	.	15.3248	0.74150	0.0:1.0:0.0:0.0	.	764;654;858	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	I	764;654;858;577	ENSP00000389031:L764I;ENSP00000358263:L654I;ENSP00000358262:L858I;ENSP00000355100:L577I	ENSP00000355100:L577I	L	+	1	0	CHD1L	145232780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.796000	0.75145	2.696000	0.92011	0.655000	0.94253	CTT		0.428	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
BCL9	607	broad.mit.edu	37	1	147084858	147084858	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:147084858C>T	ENST00000234739.3	+	5	970	c.230C>T	c.(229-231)cCt>cTt	p.P77L	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	77					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.P77L(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAAGCACTCCCTGGCCCAGGT	0.582			T	"""IGH@, IGL@"""	B-ALL																																p.P77L			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230T	1						.						33.0	35.0	34.0					1																	147084858		2203	4300	6503	145551482	SO:0001583	missense	607	exon5			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.230C>T	1.37:g.147084858C>T	ENSP00000234739:p.Pro77Leu		145551482	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444605	0.43429	.	.	ENSG00000116128	ENST00000234739	T	0.54866	0.55	5.4	5.4	0.78164	.	0.207564	0.43110	D	0.000612	T	0.25195	0.0612	N	0.22421	0.69	0.49483	D	0.999793	B	0.33694	0.421	B	0.27500	0.08	T	0.22487	-1.0215	10	0.62326	D	0.03	-3.0873	14.2315	0.65895	0.149:0.851:0.0:0.0	.	77	O00512	BCL9_HUMAN	L	77	ENSP00000234739:P77L	ENSP00000234739:P77L	P	+	2	0	BCL9	145551482	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.757000	0.55212	2.797000	0.96272	0.655000	0.94253	CCT		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
BCL9	607	broad.mit.edu	37	1	147090704	147090704	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:147090704C>A	ENST00000234739.3	+	8	1483	c.743C>A	c.(742-744)tCt>tAt	p.S248Y		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	248	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S248Y(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GACCAGAATTCTTCCCAGAAT	0.582			T	"""IGH@, IGL@"""	B-ALL																																p.S248Y			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743A	1						.						93.0	100.0	97.0					1																	147090704		2203	4300	6503	145557328	SO:0001583	missense	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.743C>A	1.37:g.147090704C>A	ENSP00000234739:p.Ser248Tyr		145557328	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715490	0.48622	.	.	ENSG00000116128	ENST00000234739	T	0.66815	-0.23	5.46	5.46	0.80206	.	0.167126	0.52532	D	0.000071	T	0.31857	0.0810	N	0.08118	0	0.31492	N	0.665893	B;B	0.25169	0.119;0.119	B;B	0.21360	0.034;0.034	T	0.32613	-0.9900	10	0.56958	D	0.05	-9.1365	14.3604	0.66768	0.1477:0.8522:0.0:0.0	.	248;248	Q1JQ81;O00512	.;BCL9_HUMAN	Y	248	ENSP00000234739:S248Y	ENSP00000234739:S248Y	S	+	2	0	BCL9	145557328	0.998000	0.40836	0.957000	0.39632	0.983000	0.72400	2.748000	0.47483	2.840000	0.97914	0.655000	0.94253	TCT		0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
GJA8	2703	broad.mit.edu	37	1	147380238	147380238	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:147380238C>T	ENST00000369235.1	+	1	156	c.156C>T	c.(154-156)ttC>ttT	p.F52F	GJA8_ENST00000240986.4_Silent_p.F52F			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	52					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.F52F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AATCCGACTTCGTGTGCAACA	0.592																																					p.F52F	Melanoma(76;1255 1795 8195 52096)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	1						.						131.0	106.0	114.0					1																	147380238		2203	4300	6503	145846862	SO:0001819	synonymous_variant	2703	exon2			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.156C>T	1.37:g.147380238C>T			145846862	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	CCDS30834.1																																																																																				0.592	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
NBPF15	284565	broad.mit.edu	37	1	148594465	148594465	+	Missense_Mutation	SNP	C	C	T	rs200949130		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:148594465C>T	ENST00000369187.3	+	19	2327	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	NBPF15_ENST00000442702.2_Missense_Mutation_p.S613L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	613	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S613L(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGATGTTATTCGACTCCGTCA	0.458													.|||	1	0.000199681	0.0	0.0	5008	,	,		21856	0.0		0.001	False		,,,				2504	0.0				p.S613L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1838T	1						.						203.0	262.0	242.0					1																	148594465		2203	4299	6502	146861089	SO:0001583	missense	284565	exon16			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1838C>T	1.37:g.148594465C>T	ENSP00000358188:p.Ser613Leu		146861089	NM_001102663	Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	8.926	0.962258	0.18583	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.06849	3.25;3.25	0.502	-0.754	0.11065	DUF1220 (2);	.	.	.	.	T	0.03305	0.0096	L	0.28274	0.84	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.12785	-1.0534	8	0.02654	T	1	.	.	.	.	.	613	Q8N660	NBPFF_HUMAN	L	613	ENSP00000416864:S613L;ENSP00000358188:S613L	ENSP00000358188:S613L	S	+	2	0	NBPF15	146861089	0.208000	0.23494	0.001000	0.08648	0.003000	0.03518	-1.514000	0.02254	-0.279000	0.09167	0.377000	0.23210	TCG		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638	
OTUD7B	56957	broad.mit.edu	37	1	149916639	149916639	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:149916639T>A	ENST00000369135.4	-	12	1943	c.1649A>T	c.(1648-1650)aAg>aTg	p.K550M		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	550					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K550M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TTTCTTCTTCTTCTCCAGTGT	0.577																																					p.K550M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1649T	1						.						85.0	91.0	89.0					1																	149916639		2010	4196	6206	148183263	SO:0001583	missense	56957	exon12			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1649A>T	1.37:g.149916639T>A	ENSP00000358131:p.Lys550Met		148183263	NM_020205	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.776826	0.70107	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.39787	1.06	4.99	4.99	0.66335	.	0.112114	0.64402	D	0.000012	T	0.47783	0.1464	L	0.51422	1.61	0.52099	D	0.999941	D	0.89917	1.0	D	0.80764	0.994	T	0.43180	-0.9407	9	.	.	.	-24.5599	14.0274	0.64594	0.0:0.0:0.0:1.0	.	550	Q6GQQ9	OTU7B_HUMAN	M	550	ENSP00000358131:K550M	.	K	-	2	0	OTUD7B	148183263	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.150000	0.71801	2.101000	0.63845	0.455000	0.32223	AAG		0.577	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205	
RPRD2	23248	broad.mit.edu	37	1	150413428	150413428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150413428G>A	ENST00000369068.4	+	3	369	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	RPRD2_ENST00000539519.1_Missense_Mutation_p.R122Q|RPRD2_ENST00000401000.4_Missense_Mutation_p.R122Q|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Missense_Mutation_p.R122Q	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	122	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R122Q(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTGTAGAACGAATCTTTAAA	0.333																																					p.R122Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G365A	1						.						48.0	46.0	47.0					1																	150413428		1798	4057	5855	148680052	SO:0001583	missense	23248	exon3			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.365G>A	1.37:g.150413428G>A	ENSP00000358064:p.Arg122Gln		148680052	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101775	0.94245	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.33	4.4	0.53042	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.052014	0.64402	D	0.000001	T	0.67401	0.2889	M	0.89095	3.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.87578	0.998;0.998;0.905	T	0.76828	-0.2815	10	0.87932	D	0	-5.1549	15.3747	0.74596	0.0:0.0:0.8595:0.1405	.	122;122;122	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Q	122	ENSP00000383785:R122Q;ENSP00000445482:R122Q;ENSP00000358063:R122Q;ENSP00000358064:R122Q	ENSP00000358063:R122Q	R	+	2	0	RPRD2	148680052	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.133000	0.94460	1.444000	0.47605	0.650000	0.86243	CGA		0.333	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
RPRD2	23248	broad.mit.edu	37	1	150443901	150443901	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150443901C>A	ENST00000369068.4	+	11	2481	c.2477C>A	c.(2476-2478)tCt>tAt	p.S826Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.S800Y|RPRD2_ENST00000401000.4_Missense_Mutation_p.S800Y|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	826	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S826Y(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAGATACTTCTTTCCAAGAA	0.463																																					p.S826Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2477A	1						.						49.0	46.0	47.0					1																	150443901		1876	4107	5983	148710525	SO:0001583	missense	23248	exon11			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2477C>A	1.37:g.150443901C>A	ENSP00000358064:p.Ser826Tyr		148710525	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193253	0.58017	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.57436	0.41;0.4;0.42	5.0	5.0	0.66597	.	0.071813	0.56097	D	0.000039	T	0.50922	0.1644	N	0.24115	0.695	0.35003	D	0.756135	D;D;D	0.69078	0.99;0.995;0.997	P;P;D	0.63793	0.723;0.829;0.918	T	0.59521	-0.7439	10	0.87932	D	0	-12.4642	18.5409	0.91027	0.0:1.0:0.0:0.0	.	800;826;800	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	800;800;826	ENSP00000383785:S800Y;ENSP00000445482:S800Y;ENSP00000358064:S826Y	ENSP00000358064:S826Y	S	+	2	0	RPRD2	148710525	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.163000	0.64948	2.608000	0.88229	0.650000	0.86243	TCT		0.463	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
TARS2	80222	broad.mit.edu	37	1	150463184	150463184	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150463184C>A	ENST00000369064.3	+	4	529	c.495C>A	c.(493-495)ttC>ttA	p.F165L	TARS2_ENST00000606933.1_Missense_Mutation_p.F165L|TARS2_ENST00000369054.2_Missense_Mutation_p.F165L|TARS2_ENST00000438568.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	165					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.F165L(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACCATGATTTCTTCCTGGGAA	0.507																																					p.F165L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C495A	1						.						117.0	118.0	118.0					1																	150463184		2203	4300	6503	148729808	SO:0001583	missense	80222	exon4			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.495C>A	1.37:g.150463184C>A	ENSP00000358060:p.Phe165Leu		148729808	NM_025150	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	2.167	-0.390711	0.04932	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	T;T	0.12465	2.68;2.68	5.23	3.22	0.36961	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.206732	0.43747	D	0.000525	T	0.08044	0.0201	M	0.88775	2.98	0.80722	D	1	B;B	0.26195	0.144;0.087	B;B	0.18263	0.014;0.021	T	0.04386	-1.0955	10	0.25106	T	0.35	-9.1272	5.3627	0.16098	0.15:0.6327:0.1323:0.085	.	165;165	Q9H9V2;Q9BW92	.;SYTM_HUMAN	L	165;165;33;33	ENSP00000358050:F165L;ENSP00000358060:F165L	ENSP00000358047:F33L	F	+	3	2	TARS2	148729808	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.679000	0.37597	1.418000	0.47098	0.563000	0.77884	TTC		0.507	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
ADAMTSL4	54507	broad.mit.edu	37	1	150526360	150526360	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150526360G>A	ENST00000369038.2	+	4	1094	c.893G>A	c.(892-894)cGc>cAc	p.R298H	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R298H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R298H|RP11-54A4.2_ENST00000442435.2_RNA|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R298H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	298					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.R298H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGGAGACGCCCTGATCCT	0.677																																					p.R298H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893A	1						.						36.0	35.0	35.0					1																	150526360		2203	4300	6503	148792984	SO:0001583	missense	54507	exon6			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.893G>A	1.37:g.150526360G>A	ENSP00000358034:p.Arg298His		148792984	NM_019032	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582035	0.28180	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62232	0.13;0.04;0.32;0.04	4.97	-9.94	0.00449	.	.	.	.	.	T	0.08714	0.0216	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.21793	-1.0235	9	0.11794	T	0.64	.	9.5669	0.39405	0.3375:0.4791:0.1835:0.0	.	298;298;298;298	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	H	298	ENSP00000358037:R298H;ENSP00000271643:R298H;ENSP00000358035:R298H;ENSP00000358034:R298H	ENSP00000271643:R298H	R	+	2	0	ADAMTSL4	148792984	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.927000	0.01561	-1.827000	0.01204	-1.022000	0.02435	CGC		0.677	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
ENSA	2029	broad.mit.edu	37	1	150601923	150601923	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150601923C>A	ENST00000369014.5	-	1	149	c.24G>T	c.(22-24)gaG>gaT	p.E8D	ENSA_ENST00000356527.5_Missense_Mutation_p.E8D|ENSA_ENST00000369016.4_Missense_Mutation_p.E8D|ENSA_ENST00000513281.1_5'Flank|ENSA_ENST00000361631.5_5'Flank|ENSA_ENST00000361532.5_5'Flank|ENSA_ENST00000362052.7_Missense_Mutation_p.E8D|ENSA_ENST00000271690.8_Missense_Mutation_p.E8D|ENSA_ENST00000369009.3_Missense_Mutation_p.E8D|ENSA_ENST00000339643.5_Missense_Mutation_p.E8D|ENSA_ENST00000354702.3_5'Flank|ENSA_ENST00000503345.1_Missense_Mutation_p.E8D|ENSA_ENST00000503241.1_Missense_Mutation_p.E8D			O43768	ENSA_HUMAN	endosulfine alpha	8					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)	p.E8D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCGCAGGGTTCTCTTCTTCTT	0.662																																					p.E8D	Esophageal Squamous(188;763 2078 3002 3411 26027)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G24T	1						.						61.0	63.0	63.0					1																	150601923		2203	4300	6503	148868547	SO:0001583	missense	2029	exon1			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.24G>T	1.37:g.150601923C>A	ENSP00000358010:p.Glu8Asp		148868547	NM_207044	A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	ENST00000369014.5	37	CCDS958.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126996	0.37533	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000503345;ENST00000503241;ENST00000362052	T	0.45276	0.9	5.78	2.41	0.29592	.	0.219631	0.39274	N	0.001407	T	0.09468	0.0233	N	0.20986	0.625	0.29221	N	0.873938	B;B;B;B;B	0.30146	0.022;0.27;0.002;0.0;0.004	B;B;B;B;B	0.28139	0.011;0.086;0.004;0.0;0.009	T	0.16808	-1.0390	10	0.27082	T	0.32	.	5.3893	0.16236	0.0:0.5639:0.1535:0.2826	.	8;8;8;8;8	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3	.;.;.;ENSA_HUMAN;.	D	8	ENSP00000358012:E8D	ENSP00000271690:E8D	E	-	3	2	ENSA	148868547	0.976000	0.34144	1.000000	0.80357	0.603000	0.37013	-0.098000	0.11024	0.774000	0.33427	0.460000	0.39030	GAG		0.662	ENSA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000084720.2	NM_207042	
GOLPH3L	55204	broad.mit.edu	37	1	150621053	150621053	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150621053T>G	ENST00000271732.3	-	5	646	c.602A>C	c.(601-603)aAa>aCa	p.K201T	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.K157T	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	201					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K201T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGAAGTTTTTTCACTAGTCG	0.453																																					p.K201T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A602C	1						.						97.0	93.0	94.0					1																	150621053		2203	4300	6503	148887677	SO:0001583	missense	55204	exon5			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.602A>C	1.37:g.150621053T>G	ENSP00000271732:p.Lys201Thr		148887677	NM_018178	B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	CCDS966.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586001	0.66105	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	4.3	0.51218	.	0.127744	0.51477	D	0.000082	T	0.69124	0.3076	M	0.82630	2.6	0.51482	D	0.999928	P;B	0.50156	0.932;0.155	P;B	0.58013	0.831;0.359	T	0.73849	-0.3853	9	0.62326	D	0.03	-22.787	10.2523	0.43377	0.0:0.088:0.0:0.912	.	157;201	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	T	201;223;157;223	.	ENSP00000271732:K201T	K	-	2	0	GOLPH3L	148887677	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.116000	0.50399	2.285000	0.76669	0.533000	0.62120	AAA		0.453	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178	
ARNT	405	broad.mit.edu	37	1	150812072	150812072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150812072C>A	ENST00000358595.5	-	6	531	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	ARNT_ENST00000354396.2_Nonsense_Mutation_p.E111*|ARNT_ENST00000515192.1_Nonsense_Mutation_p.E102*|ARNT_ENST00000505755.1_Nonsense_Mutation_p.E96*	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	111	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E111*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGACAGTTCTGTGATGTAG	0.507			T	ETV6	AML																																p.E96X			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	1						.						195.0	171.0	179.0					1																	150812072		2203	4300	6503	149078696	SO:0001587	stop_gained	405	exon5			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.331G>T	1.37:g.150812072C>A	ENSP00000351407:p.Glu111*		149078696	NM_001197325	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Nonsense_Mutation	SNP	ENST00000358595.5	37	CCDS970.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331361	0.95733	.	.	ENSG00000143437	ENST00000358595;ENST00000368975;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	111;111;111;102;95;96	.	ENSP00000346372:E111X	E	-	1	0	ARNT	149078696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.507	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		
FAM63A	55793	broad.mit.edu	37	1	150974949	150974949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150974949C>A	ENST00000361936.5	-	3	1099	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000361738.6_Nonsense_Mutation_p.E97*	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	49						extracellular vesicular exosome (GO:0070062)		p.E49*(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCTCCCGTTCTCTAGCCTCC	0.587																																					p.E49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G145T	1						.						113.0	104.0	107.0					1																	150974949		2203	4300	6503	149241573	SO:0001587	stop_gained	55793	exon3			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.145G>T	1.37:g.150974949C>A	ENSP00000354814:p.Glu49*		149241573	NM_018379	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Nonsense_Mutation	SNP	ENST00000361936.5	37	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831201	0.71258	.	.	ENSG00000143409	ENST00000361936;ENST00000361738	.	.	.	5.18	3.25	0.37280	.	0.984348	0.08290	N	0.968620	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-4.846	7.5497	0.27788	0.0:0.597:0.3167:0.0863	.	.	.	.	X	49;97	.	ENSP00000354669:E97X	E	-	1	0	FAM63A	149241573	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	0.346000	0.19997	0.703000	0.31848	0.655000	0.94253	GAA		0.587	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379	
PRUNE	58497	broad.mit.edu	37	1	151006395	151006395	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151006395G>T	ENST00000271620.3	+	8	1203	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	PRUNE_ENST00000368936.1_Missense_Mutation_p.K167N|PRUNE_ENST00000368937.1_Missense_Mutation_p.K114N|PRUNE_ENST00000368935.1_Missense_Mutation_p.K64N|BNIPL_ENST00000295294.7_5'Flank|PRUNE_ENST00000368934.1_Missense_Mutation_p.K114N|BNIPL_ENST00000368931.3_5'Flank|PRUNE_ENST00000271619.8_Missense_Mutation_p.K137N	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	349						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)	p.K349N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTCTCGAAAGAAACTTCTGC	0.552																																					p.K349N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1047T	1						.						129.0	122.0	124.0					1																	151006395		2203	4300	6503	149273019	SO:0001583	missense	58497	exon8			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.1047G>T	1.37:g.151006395G>T	ENSP00000271620:p.Lys349Asn		149273019	NM_021222	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	CCDS977.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626129	0.66901	.	.	ENSG00000143363	ENST00000271620;ENST00000302413;ENST00000271619;ENST00000368937;ENST00000431193;ENST00000368936;ENST00000368935;ENST00000368934	T;T;T;T;T;T;T	0.66815	0.55;0.18;0.16;-0.23;0.39;0.54;0.16	5.35	4.39	0.52855	DHHA2 (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	M	0.79258	2.445	0.40652	D	0.98204	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75744	-0.3210	9	.	.	.	-20.9474	7.64	0.28288	0.1968:0.0:0.8032:0.0	.	137;349	E9PCU1;Q86TP1	.;PRUNE_HUMAN	N	349;282;137;114;114;167;64;114	ENSP00000271620:K349N;ENSP00000271619:K137N;ENSP00000357933:K114N;ENSP00000392632:K114N;ENSP00000357932:K167N;ENSP00000357931:K64N;ENSP00000357930:K114N	.	K	+	3	2	PRUNE	149273019	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.271000	0.51608	1.534000	0.49203	-0.345000	0.07892	AAG		0.552	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222	
MLLT11	10962	broad.mit.edu	37	1	151039824	151039824	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151039824G>T	ENST00000368921.3	+	2	2926	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	42					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)		p.D42Y(1)		upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAAGGTCAAAGACAGCAGCGT	0.522																																					p.D42Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G124T	1						.						118.0	118.0	118.0					1																	151039824		2203	4300	6503	149306448	SO:0001583	missense	10962	exon2			BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"""ALL1 fused gene from chromosome 1q"""	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.124G>T	1.37:g.151039824G>T	ENSP00000357917:p.Asp42Tyr		149306448	NM_006818		Missense_Mutation	SNP	ENST00000368921.3	37	CCDS982.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282018	0.40394	.	.	ENSG00000213190	ENST00000368921	.	.	.	5.96	1.85	0.25348	.	0.830389	0.10197	U	0.703921	T	0.23249	0.0562	.	.	.	0.09310	N	1	P	0.40875	0.731	B	0.44224	0.444	T	0.13442	-1.0509	8	0.62326	D	0.03	-0.7062	8.59	0.33682	0.3496:0.0:0.6504:0.0	.	42	Q13015	AF1Q_HUMAN	Y	42	.	ENSP00000357917:D42Y	D	+	1	0	MLLT11	149306448	0.936000	0.31750	0.191000	0.23289	0.560000	0.35617	1.854000	0.39368	0.356000	0.24157	0.655000	0.94253	GAC		0.522	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085103.1	NM_006818	
MLLT11	10962	broad.mit.edu	37	1	151039956	151039956	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151039956G>A	ENST00000368921.3	+	2	3058	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	CDC42SE1_ENST00000439374.2_Intron	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	86					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of apoptotic process (GO:0043065)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of transcription, DNA-templated (GO:0045893)	intracellular (GO:0005622)		p.E86K(1)		upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACTCCTTCGAACTGGACTT	0.512																																					p.E86K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	1						.						135.0	128.0	130.0					1																	151039956		2203	4300	6503	149306580	SO:0001583	missense	10962	exon2			BC006471	CCDS982.1	1q21	2008-02-05			ENSG00000213190	ENSG00000213190			16997	protein-coding gene	gene with protein product	"""ALL1 fused gene from chromosome 1q"""	604684				7833468	Standard	NM_006818		Approved	AF1Q	uc001ewq.3	Q13015	OTTHUMG00000035160	ENST00000368921.3:c.256G>A	1.37:g.151039956G>A	ENSP00000357917:p.Glu86Lys		149306580	NM_006818		Missense_Mutation	SNP	ENST00000368921.3	37	CCDS982.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914358	0.92178	.	.	ENSG00000213190	ENST00000368921	.	.	.	6.17	6.17	0.99709	.	0.201158	0.30547	U	0.009381	T	0.42063	0.1186	.	.	.	0.41598	D	0.988836	P	0.49253	0.921	B	0.37144	0.242	T	0.51426	-0.8707	8	0.59425	D	0.04	-1.1821	19.4432	0.94831	0.0:0.0:1.0:0.0	.	86	Q13015	AF1Q_HUMAN	K	86	.	ENSP00000357917:E86K	E	+	1	0	MLLT11	149306580	1.000000	0.71417	0.892000	0.35008	0.951000	0.60555	6.110000	0.71535	2.941000	0.99782	0.655000	0.94253	GAA		0.512	MLLT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085103.1	NM_006818	
GABPB2	126626	broad.mit.edu	37	1	151065706	151065706	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151065706G>T	ENST00000368918.3	+	4	646	c.315G>T	c.(313-315)atG>atT	p.M105I	GABPB2_ENST00000368916.1_Missense_Mutation_p.M105I|GABPB2_ENST00000368917.1_Missense_Mutation_p.M105I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	105					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)	p.M105I(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TGCTGAAGATGACAGCTTTGC	0.433																																					p.M105I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G315T	1						.						150.0	143.0	145.0					1																	151065706		2203	4300	6503	149332330	SO:0001583	missense	126626	exon4				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.315G>T	1.37:g.151065706G>T	ENSP00000357914:p.Met105Ile		149332330	NM_144618	B1AVJ8|D3DV14|Q8NAR5	Missense_Mutation	SNP	ENST00000368918.3	37	CCDS983.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883545	0.91740	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.64438	-0.1;-0.1;-0.1	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.036820	0.85682	D	0.000000	T	0.61060	0.2317	N	0.25789	0.76	0.80722	D	1	D;D;D;D	0.89917	0.996;0.988;0.976;1.0	D;D;D;D	0.87578	0.993;0.984;0.947;0.998	T	0.57596	-0.7784	10	0.28530	T	0.3	-3.034	17.4152	0.87498	0.0:0.0:1.0:0.0	.	121;105;105;105	B4DXA3;Q5SZG2;B2R924;Q8TAK5	.;.;.;GABP2_HUMAN	I	105;105;121;105	ENSP00000357914:M105I;ENSP00000357913:M105I;ENSP00000357912:M105I	ENSP00000357912:M105I	M	+	3	0	GABPB2	149332330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.695000	0.91970	0.561000	0.74099	ATG		0.433	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2	NM_144618	
POGZ	23126	broad.mit.edu	37	1	151378291	151378291	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151378291G>A	ENST00000271715.2	-	19	3534	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	POGZ_ENST00000409503.1_Missense_Mutation_p.R1065C|POGZ_ENST00000531094.1_Missense_Mutation_p.R1012C|POGZ_ENST00000392723.1_Missense_Mutation_p.R1021C|POGZ_ENST00000361398.3_Missense_Mutation_p.R1021C|POGZ_ENST00000491586.1_Missense_Mutation_p.R1030C|POGZ_ENST00000540984.1_Missense_Mutation_p.R436C|POGZ_ENST00000368863.2_Missense_Mutation_p.R979C	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1074	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1074C(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCATGAAACGCACAGCCCAC	0.522																																					p.R979C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2935T	1						.						81.0	74.0	76.0					1																	151378291		2203	4300	6503	149644915	SO:0001583	missense	23126	exon17			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3220C>T	1.37:g.151378291G>A	ENSP00000271715:p.Arg1074Cys		149644915	NM_145796	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683336	0.47991	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.29917	5.55;5.57;5.55;5.49;5.56;5.55;1.55;5.03	5.97	4.98	0.66077	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000003	T	0.29389	0.0732	N	0.14661	0.345	0.46185	D	0.998911	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.81914	0.981;0.981;0.995;0.995;0.992;0.981	T	0.20840	-1.0263	10	0.87932	D	0	-14.0145	14.9763	0.71277	0.0:0.0:0.7837:0.2163	.	1012;1065;979;1030;1021;1074	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	C	1021;1074;1021;979;1065;1012;436;1030	ENSP00000376484:R1021C;ENSP00000271715:R1074C;ENSP00000354467:R1021C;ENSP00000357856:R979C;ENSP00000386836:R1065C;ENSP00000431259:R1012C;ENSP00000443547:R436C;ENSP00000418408:R1030C	ENSP00000271715:R1074C	R	-	1	0	POGZ	149644915	0.745000	0.28261	1.000000	0.80357	0.999000	0.98932	0.459000	0.21908	2.828000	0.97474	0.655000	0.94253	CGT		0.522	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
POGZ	23126	broad.mit.edu	37	1	151400746	151400746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151400746G>A	ENST00000271715.2	-	6	1026	c.712C>T	c.(712-714)Cga>Tga	p.R238*	POGZ_ENST00000409503.1_Nonsense_Mutation_p.R238*|POGZ_ENST00000531094.1_Nonsense_Mutation_p.R185*|POGZ_ENST00000392723.1_Nonsense_Mutation_p.R185*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.R185*|POGZ_ENST00000491586.1_Nonsense_Mutation_p.R185*|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Nonsense_Mutation_p.R143*	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	238					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R238*(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGTGCTTCGAATGGTAAGA	0.602																																					p.R143X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C427T	1						.						294.0	280.0	284.0					1																	151400746		2203	4300	6503	149667370	SO:0001587	stop_gained	23126	exon4			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.712C>T	1.37:g.151400746G>A	ENSP00000271715:p.Arg238*		149667370	NM_145796	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Nonsense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	39	7.337810	0.98221	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	.	.	.	5.17	3.26	0.37387	.	0.000000	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5588	12.8644	0.57932	0.0:0.0:0.5814:0.4186	.	.	.	.	X	185;238;185;143;238;185;185;238	.	ENSP00000271715:R238X	R	-	1	2	POGZ	149667370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.294000	0.43567	0.721000	0.32231	0.563000	0.77884	CGA		0.602	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
THEM4	117145	broad.mit.edu	37	1	151860784	151860784	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:151860784G>A	ENST00000368814.3	-	4	871	c.522C>T	c.(520-522)atC>atT	p.I174I	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	174					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.I174I(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGTCATGACGATTCCCCCAG	0.413																																					p.I174I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	1						.						113.0	99.0	104.0					1																	151860784		2203	4300	6503	150127408	SO:0001819	synonymous_variant	117145	exon4			AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.522C>T	1.37:g.151860784G>A			150127408	NM_053055	B2RBX2|Q96KR2	Silent	SNP	ENST00000368814.3	37	CCDS1006.1																																																																																				0.413	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	
TCHHL1	126637	broad.mit.edu	37	1	152059163	152059163	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152059163T>C	ENST00000368806.1	-	3	1059	c.995A>G	c.(994-996)gAc>gGc	p.D332G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	332							calcium ion binding (GO:0005509)	p.D332G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTTGAGTGTCAAACATTCT	0.463																																					p.D332G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A995G	1						.						238.0	222.0	227.0					1																	152059163		2203	4300	6503	150325787	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.995A>G	1.37:g.152059163T>C	ENSP00000357796:p.Asp332Gly		150325787	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	12.45	1.941539	0.34283	.	.	ENSG00000182898	ENST00000368806	T	0.27557	1.66	4.94	3.79	0.43588	.	0.796012	0.10466	N	0.671389	T	0.08537	0.0212	L	0.36672	1.1	0.09310	N	1	P	0.38978	0.652	B	0.33254	0.16	T	0.18840	-1.0324	10	0.27785	T	0.31	-0.8694	8.1491	0.31130	0.1791:0.0:0.0:0.8209	.	332	Q5QJ38	TCHL1_HUMAN	G	332	ENSP00000357796:D332G	ENSP00000357796:D332G	D	-	2	0	TCHHL1	150325787	0.043000	0.20138	0.010000	0.14722	0.005000	0.04900	1.552000	0.36244	0.831000	0.34780	0.524000	0.50904	GAC		0.463	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
HRNR	388697	broad.mit.edu	37	1	152192657	152192657	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152192657G>T	ENST00000368801.2	-	3	1523	c.1448C>A	c.(1447-1449)tCt>tAt	p.S483Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	483					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S483Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGATCCATGCTG	0.547																																					p.S483Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448A	1						.						287.0	270.0	276.0					1																	152192657		2203	4300	6503	150459281	SO:0001583	missense	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1448C>A	1.37:g.152192657G>T	ENSP00000357791:p.Ser483Tyr		150459281	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616540	0.14129	.	.	ENSG00000197915	ENST00000368801	T	0.01787	4.64	3.79	2.85	0.33270	.	.	.	.	.	T	0.00468	0.0015	N	0.24115	0.695	0.19300	N	0.99998	P	0.41673	0.759	B	0.32805	0.153	T	0.50898	-0.8773	9	0.34782	T	0.22	.	8.3074	0.32051	0.0:0.0:0.7636:0.2364	.	483	Q86YZ3	HORN_HUMAN	Y	483	ENSP00000357791:S483Y	ENSP00000357791:S483Y	S	-	2	0	HRNR	150459281	0.000000	0.05858	0.187000	0.23214	0.007000	0.05969	0.083000	0.14871	0.774000	0.33427	0.499000	0.49734	TCT		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
HRNR	388697	broad.mit.edu	37	1	152193008	152193008	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152193008G>T	ENST00000368801.2	-	3	1172	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	366					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S366Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGAACCATGCTT	0.557																																					p.S366Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1097A	1						.						166.0	155.0	159.0					1																	152193008		2203	4300	6503	150459632	SO:0001583	missense	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1097C>A	1.37:g.152193008G>T	ENSP00000357791:p.Ser366Tyr		150459632	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	5.781	0.328487	0.10956	.	.	ENSG00000197915	ENST00000368801	T	0.06933	3.24	4.72	-1.81	0.07882	.	.	.	.	.	T	0.02012	0.0063	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	P	0.50754	0.649	T	0.24154	-1.0168	9	0.23891	T	0.37	.	1.7213	0.02912	0.231:0.2516:0.3883:0.1291	.	366	Q86YZ3	HORN_HUMAN	Y	366	ENSP00000357791:S366Y	ENSP00000357791:S366Y	S	-	2	0	HRNR	150459632	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.113000	0.10774	-0.562000	0.06086	-1.021000	0.02439	TCT		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	broad.mit.edu	37	1	152275590	152275590	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152275590G>T	ENST00000368799.1	-	3	11807	c.11772C>A	c.(11770-11772)acC>acA	p.T3924T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3924	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T3924T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTTAGCGGTACTAGAGT	0.488									Ichthyosis																												p.T3924T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11772A	1						.						123.0	120.0	121.0					1																	152275590		2203	4300	6503	150542214	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11772C>A	1.37:g.152275590G>T			150542214	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.488	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152276236	152276236	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152276236G>T	ENST00000368799.1	-	3	11161	c.11126C>A	c.(11125-11127)tCt>tAt	p.S3709Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3709	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3709Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGAGGAAAGACCCTGAACG	0.612									Ichthyosis																												p.S3709Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11126A	1						.						133.0	139.0	137.0					1																	152276236		2203	4297	6500	150542860	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11126C>A	1.37:g.152276236G>T	ENSP00000357789:p.Ser3709Tyr		150542860	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842337	0.16963	.	.	ENSG00000143631	ENST00000368799	T	0.02369	4.32	1.96	1.96	0.26148	.	.	.	.	.	T	0.04407	0.0121	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	D	0.69824	0.966	T	0.39121	-0.9629	9	0.45353	T	0.12	.	7.5083	0.27558	0.0:0.0:1.0:0.0	.	3709	P20930	FILA_HUMAN	Y	3709	ENSP00000357789:S3709Y	ENSP00000357789:S3709Y	S	-	2	0	FLG	150542860	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.096000	0.15147	1.427000	0.47276	0.552000	0.68991	TCT		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152276563	152276563	+	Missense_Mutation	SNP	G	G	A	rs149031473		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152276563G>A	ENST00000368799.1	-	3	10834	c.10799C>T	c.(10798-10800)aCt>aTt	p.T3600I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3600	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T3600I(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCATGATGAGTGCCTGATTG	0.562									Ichthyosis																												p.T3600I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10799T	1						.						171.0	193.0	186.0					1																	152276563		2203	4298	6501	150543187	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10799C>T	1.37:g.152276563G>A	ENSP00000357789:p.Thr3600Ile		150543187	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939870	0.18281	.	.	ENSG00000143631	ENST00000368799	T	0.01767	4.65	2.96	1.79	0.24919	.	.	.	.	.	T	0.02342	0.0072	M	0.68317	2.08	0.09310	N	1	D	0.67145	0.996	D	0.63793	0.918	T	0.45190	-0.9278	9	0.42905	T	0.14	.	6.7349	0.23403	0.0:0.0:0.5393:0.4607	.	3600	P20930	FILA_HUMAN	I	3600	ENSP00000357789:T3600I	ENSP00000357789:T3600I	T	-	2	0	FLG	150543187	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.087000	0.14958	0.257000	0.21650	0.502000	0.49764	ACT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152280009	152280009	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152280009C>T	ENST00000368799.1	-	3	7388	c.7353G>A	c.(7351-7353)agG>agA	p.R2451R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2451	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R2451R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTTGAGTGCCTGGAGCTGT	0.577									Ichthyosis																												p.R2451R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7353A	1						.						332.0	304.0	313.0					1																	152280009		2203	4300	6503	150546633	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7353G>A	1.37:g.152280009C>T			150546633	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152280739	152280739	+	Missense_Mutation	SNP	G	G	A	rs80152591	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152280739G>A	ENST00000368799.1	-	3	6658	c.6623C>T	c.(6622-6624)tCg>tTg	p.S2208L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2208	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2208L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATGATGCGACCCTGAGTG	0.567									Ichthyosis				-|||	46	0.0091853	0.0348	0.0	5008	,	,		26467	0.0		0.0	False		,,,				2504	0.0				p.S2208L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6623T	1						.	G	LEU/SER	143,4263	100.7+/-139.4	0,143,2060	410.0	361.0	378.0		6623	2.0	0.0	1	dbSNP_131	378	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FLG	NM_002016.1	145	0,145,6358	AA,AG,GG		0.0233,3.2456,1.1149	probably-damaging	2208/4062	152280739	145,12861	2203	4300	6503	150547363	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6623C>T	1.37:g.152280739G>A	ENSP00000357789:p.Ser2208Leu		150547363	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	24	0.01098901098901099	24	0.04878048780487805	0	0.0	0	0.0	0	0.0	g	6.011	0.370477	0.11352	0.032456	2.33E-4	ENSG00000143631	ENST00000368799	T	0.05925	3.37	1.98	1.98	0.26296	.	.	.	.	.	T	0.07052	0.0179	M	0.84082	2.675	0.09310	N	1	D	0.71674	0.998	P	0.52793	0.709	T	0.21655	-1.0239	9	0.30078	T	0.28	.	7.376	0.26829	0.0:0.0:1.0:0.0	.	2208	P20930	FILA_HUMAN	L	2208	ENSP00000357789:S2208L	ENSP00000357789:S2208L	S	-	2	0	FLG	150547363	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.460000	0.06720	1.098000	0.41479	0.485000	0.47835	TCG		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152283355	152283355	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152283355G>A	ENST00000368799.1	-	3	4042	c.4007C>T	c.(4006-4008)tCt>tTt	p.S1336F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1336	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1336F(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAGAGGAAGACTCTGTGTG	0.547									Ichthyosis																												p.S1336F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4007T	1						.						318.0	306.0	310.0					1																	152283355		2203	4300	6503	150549979	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4007C>T	1.37:g.152283355G>A	ENSP00000357789:p.Ser1336Phe		150549979	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.655	0.899174	0.17686	.	.	ENSG00000143631	ENST00000368799	T	0.01854	4.6	2.24	2.24	0.28232	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.30824	0.296	B	0.20955	0.032	T	0.49303	-0.8954	9	0.59425	D	0.04	.	8.0038	0.30313	0.0:0.0:1.0:0.0	.	1336	P20930	FILA_HUMAN	F	1336	ENSP00000357789:S1336F	ENSP00000357789:S1336F	S	-	2	0	FLG	150549979	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.220000	0.17660	1.269000	0.44280	0.456000	0.33151	TCT		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152284522	152284522	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152284522C>T	ENST00000368799.1	-	3	2875	c.2840G>A	c.(2839-2841)aGc>aAc	p.S947N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	947	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S947N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGGCTAACACTGGA	0.552									Ichthyosis																												p.S947N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2840A	1						.						332.0	301.0	311.0					1																	152284522		2203	4300	6503	150551146	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2840G>A	1.37:g.152284522C>T	ENSP00000357789:p.Ser947Asn		150551146	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	9.753	1.168044	0.21621	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.20881	2.04	4.07	4.07	0.47477	.	.	.	.	.	T	0.28764	0.0713	M	0.69823	2.125	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.05484	-1.0882	9	0.31617	T	0.26	.	11.8487	0.52399	0.0:1.0:0.0:0.0	.	947	P20930	FILA_HUMAN	N	947;154	ENSP00000357789:S947N	ENSP00000357789:S947N	S	-	2	0	FLG	150551146	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	0.445000	0.21677	1.832000	0.53329	0.473000	0.43528	AGC		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152284696	152284696	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152284696G>A	ENST00000368799.1	-	3	2701	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	889	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S889F(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCACTTCTGGATCCTGACTG	0.557									Ichthyosis																												p.S889F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2666T	1						.						366.0	358.0	361.0					1																	152284696		2203	4300	6503	150551320	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2666C>T	1.37:g.152284696G>A	ENSP00000357789:p.Ser889Phe		150551320	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	2.948	-0.217329	0.06101	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	2.61	1.67	0.24075	.	.	.	.	.	T	0.02304	0.0071	M	0.77820	2.39	0.09310	N	1	B	0.30973	0.302	B	0.19946	0.027	T	0.35649	-0.9780	9	0.66056	D	0.02	.	6.5119	0.22226	0.0:0.0:0.7126:0.2874	.	889	P20930	FILA_HUMAN	F	889	ENSP00000357789:S889F	ENSP00000357789:S889F	S	-	2	0	FLG	150551320	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	1.576000	0.36504	0.315000	0.23110	-0.492000	0.04666	TCC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152287809	152287809	+	Missense_Mutation	SNP	G	G	A	rs138819199		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152287809G>A	ENST00000368799.1	-	2	159	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R42W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGATTTGCCGAAATTCCTTT	0.333									Ichthyosis																												p.R42W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124T	1						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	177.0	175.0		124	0.9	0.0	1	dbSNP_134	175	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/4062	152287809	1,13005	2203	4300	6503	150554433	SO:0001583	missense	2312	exon2	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.124C>T	1.37:g.152287809G>A	ENSP00000357789:p.Arg42Trp		150554433	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413968	0.25465	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.10005	2.92	5.2	0.907	0.19321	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.11452	0.0279	M	0.68317	2.08	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.12734	-1.0536	9	0.72032	D	0.01	-3.2577	1.2855	0.02049	0.1964:0.1744:0.4494:0.1798	.	42	P20930	FILA_HUMAN	W	42	ENSP00000357789:R42W	ENSP00000357789:R42W	R	-	1	2	FLG	150554433	0.041000	0.20044	0.001000	0.08648	0.004000	0.04260	0.868000	0.27982	0.343000	0.23821	-0.261000	0.10672	CGG		0.333	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152323117	152323117	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152323117C>T	ENST00000388718.5	-	3	7217	c.7145G>A	c.(7144-7146)aGc>aAc	p.S2382N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2382					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.S2382N(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)			GTTTGCAGTGCTGTCTGTTGA	0.413																																					p.S2382N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7145A	1						.						147.0	141.0	143.0					1																	152323117		2203	4300	6503	150589741	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.7145G>A	1.37:g.152323117C>T	ENSP00000373370:p.Ser2382Asn		150589741	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	6.339	0.430656	0.12045	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.14	-2.41	0.06562	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	P	0.35011	0.48	B	0.27887	0.084	T	0.40794	-0.9544	9	0.20046	T	0.44	0.4129	2.5967	0.04855	0.4963:0.2574:0.1452:0.1011	.	2382	Q5D862	FILA2_HUMAN	N	2382	ENSP00000373370:S2382N	ENSP00000373370:S2382N	S	-	2	0	FLG2	150589741	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.504000	0.00964	-0.159000	0.11021	0.460000	0.39030	AGC		0.413	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152323873	152323873	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152323873C>A	ENST00000388718.5	-	3	6461	c.6389G>T	c.(6388-6390)aGa>aTa	p.R2130I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2130					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.R2130I(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)			ATGTTGAGATCTGGCTTGGCC	0.522																																					p.R2130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6389T	1						.						449.0	415.0	427.0					1																	152323873		2203	4300	6503	150590497	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.6389G>T	1.37:g.152323873C>A	ENSP00000373370:p.Arg2130Ile		150590497	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709175	0.30322	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	4.5	2.63	0.31362	.	.	.	.	.	T	0.04588	0.0125	L	0.44542	1.39	0.09310	N	1	D	0.67145	0.996	D	0.66716	0.946	T	0.38757	-0.9646	9	0.35671	T	0.21	2.2173	6.8053	0.23774	0.0:0.7891:0.0:0.2109	.	2130	Q5D862	FILA2_HUMAN	I	2130	ENSP00000373370:R2130I	ENSP00000373370:R2130I	R	-	2	0	FLG2	150590497	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.090000	0.15025	0.644000	0.30656	0.551000	0.68910	AGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152325189	152325189	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152325189T>C	ENST00000388718.5	-	3	5145	c.5073A>G	c.(5071-5073)agA>agG	p.R1691R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1691					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.R1691R(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)			TAGTTCCATGTCTCTCAGGAA	0.488																																					p.R1691R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5073G	1						.						411.0	358.0	376.0					1																	152325189		2203	4300	6503	150591813	SO:0001819	synonymous_variant	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.5073A>G	1.37:g.152325189T>C			150591813	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152325310	152325310	+	Missense_Mutation	SNP	G	G	T	rs188198910		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152325310G>T	ENST00000388718.5	-	3	5024	c.4952C>A	c.(4951-4953)tCt>tAt	p.S1651Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1651					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.S1651Y(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)			ACTGTGGCTAGATCTCTGTCT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		26792	0.0		0.001	False		,,,				2504	0.0				p.S1651Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4952A	1						.	G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	429.0	382.0	398.0		4952	1.4	0.0	1		398	0,8600		0,0,4300	no	missense	FLG2	NM_001014342.2	144	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1651/2392	152325310	1,13005	2203	4300	6503	150591934	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.4952C>A	1.37:g.152325310G>T	ENSP00000373370:p.Ser1651Tyr		150591934	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.901	1.206774	0.22205	2.27E-4	0.0	ENSG00000143520	ENST00000388718	T	0.35421	1.31	4.56	1.43	0.22495	.	.	.	.	.	T	0.21509	0.0518	L	0.48986	1.54	0.09310	N	1	D	0.59357	0.985	P	0.50970	0.655	T	0.05632	-1.0873	9	0.62326	D	0.03	0.1094	5.648	0.17600	0.0952:0.0:0.5627:0.3421	.	1651	Q5D862	FILA2_HUMAN	Y	1651	ENSP00000373370:S1651Y	ENSP00000373370:S1651Y	S	-	2	0	FLG2	150591934	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.484000	0.22308	0.098000	0.17522	0.549000	0.68633	TCT		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152325407	152325407	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152325407T>C	ENST00000388718.5	-	3	4927	c.4855A>G	c.(4855-4857)Act>Gct	p.T1619A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1619					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.T1619A(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)			CCATGAGTAGTTCCGTGTCTC	0.517																																					p.T1619A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4855G	1						.						395.0	345.0	362.0					1																	152325407		2203	4300	6503	150592031	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.4855A>G	1.37:g.152325407T>C	ENSP00000373370:p.Thr1619Ala		150592031	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282571	0.23392	.	.	ENSG00000143520	ENST00000388718	T	0.50277	0.75	3.81	-4.83	0.03161	.	.	.	.	.	T	0.13457	0.0326	L	0.55481	1.735	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.22312	-1.0220	9	0.28530	T	0.3	-0.0389	1.2502	0.01980	0.1456:0.3012:0.1484:0.4047	.	1619	Q5D862	FILA2_HUMAN	A	1619	ENSP00000373370:T1619A	ENSP00000373370:T1619A	T	-	1	0	FLG2	150592031	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-0.651000	0.05415	-0.712000	0.03635	ACT		0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152325885	152325885	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152325885G>A	ENST00000388718.5	-	3	4449	c.4377C>T	c.(4375-4377)tcC>tcT	p.S1459S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1459					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.S1459S(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)			CATGAACTGTGGATCCTGACT	0.502																																					p.S1459S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4377T	1						.						419.0	373.0	388.0					1																	152325885		2203	4300	6503	150592509	SO:0001819	synonymous_variant	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.4377C>T	1.37:g.152325885G>A			150592509	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152326848	152326848	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152326848G>T	ENST00000388718.5	-	3	3486	c.3414C>A	c.(3412-3414)tcC>tcA	p.S1138S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1138	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.S1138S(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)			CAAAGCCAGAGGATTTACCTG	0.532																																					p.S1138S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3414A	1						.						210.0	199.0	203.0					1																	152326848		2203	4300	6503	150593472	SO:0001819	synonymous_variant	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.3414C>A	1.37:g.152326848G>T			150593472	NM_001014342	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152329216	152329216	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152329216G>T	ENST00000388718.5	-	3	1118	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	349	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.S349Y(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)			CTGACTATAGGACTGACTACA	0.512																																					p.S349Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046A	1						.						143.0	134.0	137.0					1																	152329216		2203	4300	6503	150595840	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.1046C>A	1.37:g.152329216G>T	ENSP00000373370:p.Ser349Tyr		150595840	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413975	0.25465	.	.	ENSG00000143520	ENST00000388718	T	0.18657	2.2	4.16	4.16	0.48862	.	.	.	.	.	T	0.27169	0.0666	L	0.59436	1.845	0.29923	N	0.822557	D	0.89917	1.0	D	0.78314	0.991	T	0.01630	-1.1308	9	0.28530	T	0.3	-1.1968	12.251	0.54597	0.0:0.0:1.0:0.0	.	349	Q5D862	FILA2_HUMAN	Y	349	ENSP00000373370:S349Y	ENSP00000373370:S349Y	S	-	2	0	FLG2	150595840	.	.	0.975000	0.42487	0.289000	0.27227	.	.	2.600000	0.87896	0.650000	0.86243	TCC		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
KPRP	448834	broad.mit.edu	37	1	152732987	152732987	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152732987G>A	ENST00000606109.1	+	1	951	c.923G>A	c.(922-924)cGc>cAc	p.R308H	KPRP_ENST00000368773.1_Missense_Mutation_p.R308H			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	308	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R308H(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATAACAGTCGCTGTCCTCGC	0.597																																					p.R308H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	1						.						48.0	49.0	49.0					1																	152732987		2203	4300	6503	150999611	SO:0001583	missense	448834	exon2			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.923G>A	1.37:g.152732987G>A	ENSP00000475216:p.Arg308His		150999611	NM_001025231		Missense_Mutation	SNP	ENST00000606109.1	37	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	1.075	-0.668801	0.03403	.	.	ENSG00000203786	ENST00000368773	T	0.11495	2.77	5.3	1.04	0.20106	.	0.994182	0.08158	N	0.988958	T	0.01222	0.0040	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.49041	-0.8980	10	0.18276	T	0.48	-0.2085	6.8297	0.23902	0.4812:0.0:0.5188:0.0	.	308	Q5T749	KPRP_HUMAN	H	308	ENSP00000357762:R308H	ENSP00000357762:R308H	R	+	2	0	KPRP	150999611	0.001000	0.12720	0.013000	0.15412	0.087000	0.18053	0.493000	0.22451	-0.004000	0.14419	-0.379000	0.06801	CGC		0.597	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
LCE1A	353131	broad.mit.edu	37	1	152800004	152800004	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:152800004A>C	ENST00000335123.2	+	1	56	c.56A>C	c.(55-57)aAg>aCg	p.K19T		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	19	Cys-rich.				keratinization (GO:0031424)			p.K19T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tgcacccccaagtgccctccc	0.627																																					p.K19T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A56C	1						.						51.0	59.0	56.0					1																	152800004		2203	4300	6503	151066628	SO:0001583	missense	353131	exon1				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.56A>C	1.37:g.152800004A>C	ENSP00000334869:p.Lys19Thr		151066628	NM_178348		Missense_Mutation	SNP	ENST00000335123.2	37	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.385907	0.25031	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.04454	3.62;3.62	4.18	3.0	0.34707	.	0.000000	0.35772	N	0.002981	T	0.03305	0.0096	M	0.83774	2.66	0.21627	N	0.999618	P	0.37330	0.59	B	0.37451	0.25	T	0.24977	-1.0145	10	0.87932	D	0	.	6.8826	0.24181	0.7944:0.0:0.0:0.2056	.	19	Q5T7P2	LCE1A_HUMAN	T	19	ENSP00000357755:K19T;ENSP00000334869:K19T	ENSP00000334869:K19T	K	+	2	0	LCE1A	151066628	0.982000	0.34865	0.990000	0.47175	0.993000	0.82548	2.263000	0.43293	0.718000	0.32166	0.456000	0.33151	AAG		0.627	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348	
PGLYRP4	57115	broad.mit.edu	37	1	153315577	153315577	+	Missense_Mutation	SNP	C	C	T	rs374415659|rs386635578		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:153315577C>T	ENST00000359650.5	-	5	525	c.461G>A	c.(460-462)gGc>gAc	p.G154D	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.G150D|PGLYRP4_ENST00000490266.1_5'Flank	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	154					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.G154D(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)			TTTCTTAGTGCCAAAGAAGGC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20480	0.0		0.0	False		,,,				2504	0.001				p.G154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	1						.	C	ASP/GLY	1,4405	2.1+/-5.4	0,1,2202	156.0	123.0	134.0		461	4.7	1.0	1		134	0,8600		0,0,4300	no	missense	PGLYRP4	NM_020393.2	94	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	154/374	153315577	1,13005	2203	4300	6503	151582201	SO:0001583	missense	57115	exon5			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.461G>A	1.37:g.153315577C>T	ENSP00000352672:p.Gly154Asp		151582201	NM_020393	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406139	0.62288	2.27E-4	0.0	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.70869	-0.52;-0.52	4.71	4.71	0.59529	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.47455	D	0.000225	D	0.87285	0.6139	H	0.97415	4	0.35351	D	0.787383	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	D	0.91352	0.5105	10	0.87932	D	0	-8.6536	13.0053	0.58701	0.0:1.0:0.0:0.0	.	150;154	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	D	150;154	ENSP00000357728:G150D;ENSP00000352672:G154D	ENSP00000352672:G154D	G	-	2	0	PGLYRP4	151582201	0.545000	0.26449	0.978000	0.43139	0.644000	0.38419	3.888000	0.56204	2.427000	0.82271	0.655000	0.94253	GGC		0.488	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
CHTOP	26097	broad.mit.edu	37	1	153610824	153610824	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:153610824C>T	ENST00000368694.3	+	3	431	c.119C>T	c.(118-120)tCg>tTg	p.S40L	CHTOP_ENST00000403433.1_Missense_Mutation_p.S40L|CHTOP_ENST00000368687.1_Missense_Mutation_p.S15L|CHTOP_ENST00000368686.1_5'UTR|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Missense_Mutation_p.S40L	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	40					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)	p.S40L(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						ATTCGGGCTTCGATGCAGCAA	0.438																																					p.S40L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	1						.						76.0	77.0	77.0					1																	153610824		2203	4300	6503	151877448	SO:0001583	missense	26097	exon3				CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"""small protein rich in arginine and glycine"", ""Friend of Prmt1"""	614206	"""chromosome 1 open reading frame 77"""	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.119C>T	1.37:g.153610824C>T	ENSP00000357683:p.Ser40Leu		151877448	NM_015607	D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Missense_Mutation	SNP	ENST00000368694.3	37	CCDS1048.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.825129	0.71143	.	.	ENSG00000160679	ENST00000368694;ENST00000403433;ENST00000368690;ENST00000368687	D;D	0.91011	-2.77;-2.77	5.5	5.5	0.81552	.	0.050729	0.85682	D	0.000000	T	0.81559	0.4848	L	0.36672	1.1	0.54753	D	0.999982	B;B;B	0.32968	0.025;0.392;0.272	B;B;B	0.25884	0.026;0.064;0.029	D	0.83580	0.0117	10	0.72032	D	0.01	.	16.94	0.86215	0.0:1.0:0.0:0.0	.	40;40;40	Q9Y3Y2-4;Q9Y3Y2-3;Q9Y3Y2	.;.;CHTOP_HUMAN	L	40;40;40;15	ENSP00000385228:S40L;ENSP00000357679:S40L	ENSP00000357676:S15L	S	+	2	0	CHTOP	151877448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.390000	0.79816	2.861000	0.98227	0.655000	0.94253	TCG		0.438	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089967.1	NM_015607	
SLC27A3	11000	broad.mit.edu	37	1	153749017	153749017	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:153749017G>A	ENST00000368661.3	+	2	897	c.832G>A	c.(832-834)Gac>Aac	p.D278N	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Missense_Mutation_p.D359N	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	278					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.D278N(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGAGCCGGACCTGCCCGC	0.622																																					p.D278N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	1						.						70.0	81.0	77.0					1																	153749017		2203	4300	6503	152015641	SO:0001583	missense	11000	exon2			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.832G>A	1.37:g.153749017G>A	ENSP00000357650:p.Asp278Asn		152015641	NM_024330	Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453687	0.63290	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.10477	2.87;2.87	4.68	4.68	0.58851	AMP-dependent synthetase/ligase (1);	0.136051	0.49305	D	0.000147	T	0.12561	0.0305	L	0.49778	1.585	0.27543	N	0.95075	D	0.58268	0.982	D	0.64410	0.925	T	0.07233	-1.0783	10	0.25106	T	0.35	-33.3469	12.9581	0.58442	0.0:0.0:1.0:0.0	.	278	Q5K4L6	S27A3_HUMAN	N	359;278	ENSP00000271857:D359N;ENSP00000357650:D278N	ENSP00000271857:D359N	D	+	1	0	SLC27A3	152015641	0.623000	0.27094	0.998000	0.56505	0.917000	0.54804	1.166000	0.31834	2.440000	0.82611	0.491000	0.48974	GAC		0.622	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330	
NUP210L	91181	broad.mit.edu	37	1	154029322	154029322	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154029322C>A	ENST00000368559.3	-	23	3280	c.3209G>T	c.(3208-3210)aGa>aTa	p.R1070I	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1070I|NUP210L_ENST00000368553.1_Missense_Mutation_p.R3I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1070					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R1070K(1)|p.R1070I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGTATTTTCTTCCCATCTT	0.378																																					p.R1070I												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G3209T	1						.						157.0	143.0	147.0					1																	154029322		1875	4116	5991	152295946	SO:0001583	missense	91181	exon23			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3209G>T	1.37:g.154029322C>A	ENSP00000357547:p.Arg1070Ile		152295946	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658051	0.47467	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.29655	3.34;1.56;3.1	4.95	4.02	0.46733	.	0.086330	0.50627	D	0.000112	T	0.18257	0.0438	M	0.64997	1.995	0.45295	D	0.998292	P;P	0.46395	0.877;0.8	B;B	0.42462	0.216;0.388	T	0.02625	-1.1132	10	0.48119	T	0.1	-32.6142	8.5269	0.33311	0.0:0.7627:0.1531:0.0842	.	1070;1070	E7EP56;Q5VU65	.;P210L_HUMAN	I	1070;3;1070	ENSP00000357547:R1070I;ENSP00000357541:R3I;ENSP00000271854:R1070I	ENSP00000271854:R1070I	R	-	2	0	NUP210L	152295946	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	2.189000	0.42621	1.268000	0.44264	0.650000	0.86243	AGA		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
UBAP2L	9898	broad.mit.edu	37	1	154241244	154241244	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154241244G>A	ENST00000361546.2	+	25	3024	c.2982G>A	c.(2980-2982)gaG>gaA	p.E994E	UBAP2L_ENST00000271877.7_Silent_p.E1004E|UBAP2L_ENST00000428931.1_Silent_p.E994E|UBAP2L_ENST00000484819.1_3'UTR			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	994					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.E490E(1)|p.E994E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTCCTTTGAGAAACAAGGTT	0.537																																					p.E994E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2982A	1						.						144.0	135.0	138.0					1																	154241244		2203	4300	6503	152507868	SO:0001819	synonymous_variant	9898	exon26			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2982G>A	1.37:g.154241244G>A			152507868	NM_014847	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	2.762	-0.257696	0.05791	.	.	ENSG00000143569	ENST00000433615;ENST00000428595	T;T	0.40476	1.03;1.03	5.34	4.36	0.52297	.	0.060929	0.64402	D	0.000005	T	0.47948	0.1473	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49670	-0.8915	7	0.59425	D	0.04	-6.9403	14.1973	0.65679	0.0:0.1508:0.8492:0.0	.	.	.	.	K	325;273	ENSP00000407672:E325K;ENSP00000398609:E273K	ENSP00000398609:E273K	E	+	1	0	UBAP2L	152507868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.469000	0.45110	2.486000	0.83907	0.557000	0.71058	GAA		0.537	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
ATP8B2	57198	broad.mit.edu	37	1	154304153	154304153	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154304153C>T	ENST00000368489.3	+	7	536	c.536C>T	c.(535-537)gCg>gTg	p.A179V	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Splice_Site_p.A146V|ATP8B2_ENST00000341822.2_Splice_Site_p.A165V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	165					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A179V(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGTTTGTGGCGGTAAGGGAC	0.473																																					p.A146V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437T	1						.						119.0	110.0	113.0					1																	154304153		2203	4300	6503	152570777	SO:0001630	splice_region_variant	57198	exon7			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.537+1C>T	1.37:g.154304153C>T			152570777	NM_001005855	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414644	0.83449	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.88509	-2.39;-2.39;-2.39	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060792	0.64402	D	0.000004	D	0.87521	0.6198	M	0.74546	2.27	0.80722	D	1	P;P;P	0.49253	0.921;0.774;0.469	B;B;B	0.43018	0.405;0.244;0.075	D	0.89274	0.3607	10	0.59425	D	0.04	.	17.782	0.88527	0.0:1.0:0.0:0.0	.	165;179;146	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	V	146;179;165	ENSP00000357472:A146V;ENSP00000357475:A179V;ENSP00000340448:A165V	ENSP00000340448:A165V	A	+	2	0	ATP8B2	152570777	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.601000	0.82783	2.676000	0.91093	0.561000	0.74099	GCG		0.473	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	Missense_Mutation
ATP8B2	57198	broad.mit.edu	37	1	154307027	154307027	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154307027G>A	ENST00000368489.3	+	11	896	c.896G>A	c.(895-897)aGa>aAa	p.R299K	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R266K|ATP8B2_ENST00000341822.2_Missense_Mutation_p.R285K	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	285					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R299K(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGTTCAAAAGAACGAGTATC	0.537																																					p.R266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797A	1						.						103.0	95.0	98.0					1																	154307027		2203	4300	6503	152573651	SO:0001583	missense	57198	exon11			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.896G>A	1.37:g.154307027G>A	ENSP00000357475:p.Arg299Lys		152573651	NM_001005855	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526657	0.96431	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.90444	-2.67;-0.83;-0.83	4.86	4.86	0.63082	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	M	0.86740	2.835	0.51012	D	0.999908	D;D;P	0.76494	0.999;0.998;0.849	D;D;P	0.85130	0.997;0.97;0.55	D	0.94864	0.8024	10	0.48119	T	0.1	.	16.7414	0.85460	0.0:0.0:1.0:0.0	.	285;299;266	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	K	266;299;285	ENSP00000357472:R266K;ENSP00000357475:R299K;ENSP00000340448:R285K	ENSP00000340448:R285K	R	+	2	0	ATP8B2	152573651	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.591000	0.74090	2.526000	0.85167	0.591000	0.81541	AGA		0.537	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
ATP8B2	57198	broad.mit.edu	37	1	154310016	154310016	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154310016G>A	ENST00000368489.3	+	12	1129	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I	ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Missense_Mutation_p.V344I|ATP8B2_ENST00000341822.2_Missense_Mutation_p.V363I	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	363					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V377I(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCACTCTATGTCAGGTATGT	0.507																																					p.V344I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1030A	1						.						336.0	289.0	305.0					1																	154310016		2203	4300	6503	152576640	SO:0001583	missense	57198	exon12			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1129G>A	1.37:g.154310016G>A	ENSP00000357475:p.Val377Ile		152576640	NM_001005855	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349237	0.61183	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.90676	-2.71;-2.71;-2.71	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.146245	0.45361	D	0.000361	D	0.93471	0.7917	M	0.63208	1.945	0.80722	D	1	D;D;P	0.64830	0.974;0.994;0.634	D;D;P	0.64687	0.913;0.928;0.616	D	0.93656	0.6977	10	0.87932	D	0	.	17.9338	0.89006	0.0:0.0:1.0:0.0	.	363;377;344	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	I	344;377;363	ENSP00000357472:V344I;ENSP00000357475:V377I;ENSP00000340448:V363I	ENSP00000340448:V363I	V	+	1	0	ATP8B2	152576640	1.000000	0.71417	0.998000	0.56505	0.305000	0.27757	9.581000	0.98210	2.815000	0.96918	0.561000	0.74099	GTC		0.507	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
KAZN	23254	broad.mit.edu	37	1	15392182	15392182	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:15392182C>T	ENST00000376030.2	+	8	1449	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	KAZN_ENST00000400798.2_Silent_p.F291F|KAZN_ENST00000422387.2_Silent_p.F385F|KAZN_ENST00000361144.5_Silent_p.F379F|KAZN_ENST00000503743.1_Silent_p.F385F|KAZN_ENST00000400797.3_Silent_p.F291F	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	385					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.F379F(1)|p.F385F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						AGATGGGATTCGGCTCCATCT	0.547																																					p.F385F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1155T	1						.						78.0	86.0	83.0					1																	15392182		2203	4300	6503	15264769	SO:0001819	synonymous_variant	23254	exon8			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1155C>T	1.37:g.15392182C>T			15264769	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	CCDS152.2																																																																																				0.547	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
ATP8B2	57198	broad.mit.edu	37	1	154315769	154315769	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154315769C>T	ENST00000368489.3	+	16	1733	c.1733C>T	c.(1732-1734)tCg>tTg	p.S578L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	564					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S578L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGCGGATGTCGGTCATAGGT	0.577																																					p.S578L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1733T	1						.						35.0	32.0	33.0					1																	154315769		2203	4300	6503	152582393	SO:0001583	missense	57198	exon16			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1733C>T	1.37:g.154315769C>T	ENSP00000357475:p.Ser578Leu		152582393	NM_020452	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544638	0.96488	.	.	ENSG00000143515	ENST00000368489	D	0.84873	-1.91	5.65	5.65	0.86999	.	0.065425	0.64402	D	0.000006	D	0.95943	0.8679	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97011	0.9736	10	0.87932	D	0	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	578	P98198-3	.	L	578	ENSP00000357475:S578L	ENSP00000357475:S578L	S	+	2	0	ATP8B2	152582393	1.000000	0.71417	0.970000	0.41538	0.987000	0.75469	5.845000	0.69437	2.941000	0.99782	0.655000	0.94253	TCG		0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
SHE	126669	broad.mit.edu	37	1	154461806	154461806	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154461806G>A	ENST00000304760.2	-	3	831	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	249								p.P249S(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCACCAGGGGATCTTTGGAA	0.488																																					p.P249S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745T	1						.						58.0	68.0	65.0					1																	154461806		2203	4300	6503	152728430	SO:0001583	missense	126669	exon3			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.745C>T	1.37:g.154461806G>A	ENSP00000307369:p.Pro249Ser		152728430	NM_001010846	Q8TEQ5	Missense_Mutation	SNP	ENST00000304760.2	37	CCDS30877.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475970	0.44044	.	.	ENSG00000169291	ENST00000304760	T	0.28895	1.59	5.17	5.17	0.71159	.	0.277762	0.36200	N	0.002735	T	0.11793	0.0287	L	0.39633	1.23	0.30271	N	0.792298	P	0.48764	0.915	B	0.42386	0.386	T	0.08889	-1.0700	10	0.09338	T	0.73	-1.8722	12.8567	0.57890	0.0:0.0:0.837:0.163	.	249	Q5VZ18	SHE_HUMAN	S	249	ENSP00000307369:P249S	ENSP00000307369:P249S	P	-	1	0	SHE	152728430	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.061000	0.71148	2.864000	0.98301	0.549000	0.68633	CCC		0.488	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	
TDRD10	126668	broad.mit.edu	37	1	154517335	154517335	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154517335G>A	ENST00000368480.3	+	11	947	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.A288T			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	288	Tudor.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A288T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGACAGTTGGCCACCATCCC	0.542																																					p.A288T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862A	1						.						227.0	193.0	205.0					1																	154517335		2203	4300	6503	152783959	SO:0001583	missense	126668	exon11			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.862G>A	1.37:g.154517335G>A	ENSP00000357465:p.Ala288Thr		152783959	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272924	0.40194	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.08896	3.04;3.04	4.17	2.2	0.27929	Maternal tudor protein (1);	0.119176	0.34725	N	0.003734	T	0.04497	0.0123	L	0.32530	0.975	0.21527	N	0.99966	P;P	0.52316	0.952;0.873	P;B	0.54460	0.753;0.441	T	0.24190	-1.0167	10	0.72032	D	0.01	-12.3446	6.0593	0.19828	0.1078:0.1891:0.7031:0.0	.	288;288	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	T	288	ENSP00000357467:A288T;ENSP00000357465:A288T	ENSP00000357465:A288T	A	+	1	0	TDRD10	152783959	0.021000	0.18746	0.244000	0.24202	0.117000	0.20001	0.111000	0.15458	0.367000	0.24454	0.557000	0.71058	GCC		0.542	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
CHRNB2	1141	broad.mit.edu	37	1	154543823	154543823	+	Missense_Mutation	SNP	C	C	T	rs75760566	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154543823C>T	ENST00000368476.3	+	5	788	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	175					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.S175L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	AAGTTCCGTTCGTGGACCTAC	0.552																																					p.S175L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524T	1						.						137.0	108.0	118.0					1																	154543823		2203	4300	6503	152810447	SO:0001583	missense	1141	exon5			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.524C>T	1.37:g.154543823C>T	ENSP00000357461:p.Ser175Leu		152810447	NM_000748	Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760191	0.89932	.	.	ENSG00000160716	ENST00000368476	D	0.86497	-2.13	4.38	4.38	0.52667	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97362	0.9970	10	0.87932	D	0	.	16.7273	0.85426	0.0:1.0:0.0:0.0	.	175	P17787	ACHB2_HUMAN	L	175	ENSP00000357461:S175L	ENSP00000357461:S175L	S	+	2	0	CHRNB2	152810447	1.000000	0.71417	0.974000	0.42286	0.949000	0.60115	7.616000	0.83018	2.238000	0.73509	0.563000	0.77884	TCG		0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
CHRNB2	1141	broad.mit.edu	37	1	154544157	154544157	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154544157C>T	ENST00000368476.3	+	5	1122	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	286					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.I286I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TCTCCAAGATCGTGCCTCCCA	0.582																																					p.I286I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C858T	1						.						220.0	164.0	183.0					1																	154544157		2203	4300	6503	152810781	SO:0001819	synonymous_variant	1141	exon5			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.858C>T	1.37:g.154544157C>T			152810781	NM_000748	Q9UEH9	Silent	SNP	ENST00000368476.3	37	CCDS1070.1																																																																																				0.582	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
ADAR	103	broad.mit.edu	37	1	154574376	154574376	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154574376C>T	ENST00000368474.4	-	2	941	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	ADAR_ENST00000292205.5_Missense_Mutation_p.V291I|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	248					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.V248I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGAGCTGAGACTGCAATAAAA	0.517																																					p.V248I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	1						.						115.0	119.0	117.0					1																	154574376		2203	4300	6503	152841000	SO:0001583	missense	103	exon2			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.742G>A	1.37:g.154574376C>T	ENSP00000357459:p.Val248Ile		152841000	NM_015841	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776636	0.16120	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11495	2.77;2.79;2.78	2.09	-0.364	0.12553	.	3.791260	0.02764	U	0.118893	T	0.02807	0.0084	L	0.39898	1.24	0.09310	N	1	P;P;B	0.40834	0.73;0.73;0.043	B;B;B	0.38020	0.263;0.263;0.003	T	0.29150	-1.0021	10	0.38643	T	0.18	.	2.8284	0.05491	0.0:0.4922:0.3034:0.2043	.	248;248;248	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	I	291;248;243	ENSP00000292205:V291I;ENSP00000357459:V248I;ENSP00000431794:V243I	ENSP00000292205:V291I	V	-	1	0	ADAR	152841000	0.472000	0.25870	0.055000	0.19348	0.112000	0.19704	-0.026000	0.12392	0.188000	0.20168	0.491000	0.48974	GTC		0.517	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
KAZN	23254	broad.mit.edu	37	1	15428237	15428237	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:15428237C>T	ENST00000376030.2	+	11	2040	c.1746C>T	c.(1744-1746)atC>atT	p.I582I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	582	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.I582I(1)|p.I29I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGCTGGGGATCGAGCTGCTGT	0.587																																					p.I582I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1746T	1						.						73.0	47.0	56.0					1																	15428237		2203	4299	6502	15300824	SO:0001819	synonymous_variant	23254	exon11			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1746C>T	1.37:g.15428237C>T			15300824	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Silent	SNP	ENST00000376030.2	37	CCDS152.2																																																																																				0.587	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
ADAR	103	broad.mit.edu	37	1	154574713	154574713	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154574713G>T	ENST00000368474.4	-	2	604	c.405C>A	c.(403-405)atC>atA	p.I135I	ADAR_ENST00000292205.5_Silent_p.I178I|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	135					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I135I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GATCTTGGTAGATACTCAGTT	0.522																																					p.I135I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405A	1						.						66.0	68.0	68.0					1																	154574713		2203	4300	6503	152841337	SO:0001819	synonymous_variant	103	exon2			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.405C>A	1.37:g.154574713G>T			152841337	NM_015841	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	ENST00000368474.4	37	CCDS1071.1																																																																																				0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
KCNN3	3782	broad.mit.edu	37	1	154842176	154842176	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:154842176C>T	ENST00000271915.4	-	1	580	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	94	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A89T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGGAGTTGGGCGAGCTGAGAC	0.687																																					p.A89T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	1						.						27.0	19.0	22.0					1																	154842176		2191	4280	6471	153108800	SO:0001583	missense	3782	exon1			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.265G>A	1.37:g.154842176C>T	ENSP00000271915:p.Ala89Thr		153108800	NM_002249	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088706	0.20390	.	.	ENSG00000143603	ENST00000271915;ENST00000539103	D	0.95171	-3.63	4.82	-0.862	0.10673	.	1.056700	0.07450	N	0.898802	T	0.74688	0.3749	N	0.14661	0.345	0.22873	N	0.998629	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.65417	-0.6173	10	0.13108	T	0.6	-3.2171	8.8886	0.35418	0.0:0.4964:0.0:0.5036	.	95;94	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	T	89;184	ENSP00000271915:A89T	ENSP00000271915:A89T	A	-	1	0	KCNN3	153108800	0.957000	0.32711	0.974000	0.42286	0.994000	0.84299	0.172000	0.16704	-0.021000	0.14009	0.563000	0.77884	GCC		0.687	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
DCST2	127579	broad.mit.edu	37	1	155003054	155003054	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155003054G>T	ENST00000368424.3	-	6	931	c.873C>A	c.(871-873)ttC>ttA	p.F291L	DCST2_ENST00000295536.5_Missense_Mutation_p.F291L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	291						integral component of membrane (GO:0016021)		p.F291L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GATCCACAGAGAAGTGGTGGG	0.607																																					p.F291L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C873A	1						.						79.0	57.0	65.0					1																	155003054		2203	4300	6503	153269678	SO:0001583	missense	127579	exon6			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.873C>A	1.37:g.155003054G>T	ENSP00000357409:p.Phe291Leu		153269678	NM_144622	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360497	0.61403	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.25749	1.78;1.84	5.08	5.08	0.68730	.	0.065598	0.64402	D	0.000011	T	0.10208	0.0250	L	0.34521	1.04	0.35289	D	0.782025	B	0.21225	0.053	B	0.20184	0.028	T	0.07966	-1.0745	10	0.20519	T	0.43	-31.4202	15.741	0.77894	0.0:0.0:1.0:0.0	.	291	Q5T1A1	DCST2_HUMAN	L	291	ENSP00000357409:F291L;ENSP00000295536:F291L	ENSP00000295536:F291L	F	-	3	2	DCST2	153269678	0.986000	0.35501	1.000000	0.80357	0.989000	0.77384	1.551000	0.36233	2.531000	0.85337	0.655000	0.94253	TTC		0.607	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	
DCST1	149095	broad.mit.edu	37	1	155015221	155015221	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155015221T>G	ENST00000295542.1	+	9	999	c.903T>G	c.(901-903)gtT>gtG	p.V301V	DCST1_ENST00000423025.2_Silent_p.V276V|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000368419.2_Silent_p.V301V|DCST1_ENST00000392480.1_Silent_p.V301V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	301						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.V301V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGATGGAGGTTTGGTGCCGCA	0.597																																					p.V276V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T828G	1						.						113.0	95.0	101.0					1																	155015221		2203	4300	6503	153281845	SO:0001819	synonymous_variant	149095	exon8			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.903T>G	1.37:g.155015221T>G			153281845	NM_001143687	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	CCDS1083.1																																																																																				0.597	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494	
ADAM15	8751	broad.mit.edu	37	1	155028558	155028558	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155028558C>A	ENST00000356955.2	+	9	848	c.747C>A	c.(745-747)ttC>ttA	p.F249L	ADAM15_ENST00000271836.6_Missense_Mutation_p.F249L|ADAM15_ENST00000359280.4_Missense_Mutation_p.F249L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.F249L|ADAM15_ENST00000355956.2_Missense_Mutation_p.F249L|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.F233L|ADAM15_ENST00000531455.1_Missense_Mutation_p.F259L|ADAM15_ENST00000449910.2_Missense_Mutation_p.F249L|ADAM15_ENST00000360674.4_Missense_Mutation_p.F249L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	249	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.F249L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCTTTCAGTTCTTCCGGCCCC	0.627																																					p.F249L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C747A	1						.						63.0	64.0	64.0					1																	155028558		2203	4300	6503	153295182	SO:0001583	missense	8751	exon9			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.747C>A	1.37:g.155028558C>A	ENSP00000349436:p.Phe249Leu		153295182	NM_207195	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622743	0.87460	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	4.84	4.84	0.62591	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.43747	D	0.000540	T	0.50480	0.1618	N	0.21545	0.675	0.80722	D	1	D;D;D;D;P;D;D;D;B;D	0.76494	0.999;0.999;0.997;0.998;0.868;0.998;0.998;0.998;0.207;0.999	D;D;D;D;P;D;D;D;B;D	0.85130	0.976;0.976;0.983;0.995;0.848;0.96;0.96;0.971;0.316;0.997	T	0.55655	-0.8107	10	0.49607	T	0.09	.	8.9483	0.35773	0.0:0.9012:0.0:0.0988	.	259;266;233;249;249;249;249;249;249;249	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	L	249;249;249;249;249;249;249;259	ENSP00000349436:F249L;ENSP00000403843:F249L;ENSP00000352226:F249L;ENSP00000353892:F249L;ENSP00000357397:F249L;ENSP00000348227:F249L;ENSP00000271836:F249L;ENSP00000432927:F259L	ENSP00000271836:F249L	F	+	3	2	ADAM15	153295182	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	0.883000	0.28200	2.498000	0.84270	0.462000	0.41574	TTC		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	
ADAM15	8751	broad.mit.edu	37	1	155030608	155030608	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155030608C>T	ENST00000356955.2	+	14	1799	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G	ADAM15_ENST00000271836.6_Silent_p.G566G|ADAM15_ENST00000359280.4_Silent_p.G566G|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368410.2_Silent_p.G272G|ADAM15_ENST00000368412.3_Silent_p.G566G|ADAM15_ENST00000355956.2_Silent_p.G566G|ADAM15_ENST00000368413.1_Silent_p.G272G|ADAM15_ENST00000447332.3_Silent_p.G550G|ADAM15_ENST00000531455.1_Silent_p.G576G|ADAM15_ENST00000449910.2_Silent_p.G566G|ADAM15_ENST00000360674.4_Silent_p.G566G	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	566	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G566G(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACCCCAGTGGCAGTTATGTGT	0.582																																					p.G566G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1698T	1						.						53.0	59.0	57.0					1																	155030608		2203	4300	6503	153297232	SO:0001819	synonymous_variant	8751	exon14			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1698C>T	1.37:g.155030608C>T			153297232	NM_207195	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	CCDS1087.1																																																																																				0.582	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	
THBS3	7059	broad.mit.edu	37	1	155170942	155170942	+	Silent	SNP	G	G	A	rs148689308		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155170942G>A	ENST00000368378.3	-	12	1403	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	THBS3_ENST00000457183.2_Silent_p.I341I|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541576.1_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	461					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.I461I(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGTAGCCATCGATGTCTGTGT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20631	0.0		0.0	False		,,,				2504	0.0				p.I461I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1383T	1						.	G		3,4403	6.2+/-15.9	0,3,2200	236.0	192.0	207.0		1383	-5.7	0.8	1	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS3	NM_007112.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		461/957	155170942	4,13002	2203	4300	6503	153437566	SO:0001819	synonymous_variant	7059	exon12			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1383C>T	1.37:g.155170942G>A			153437566	NM_007112	B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	CCDS1099.1																																																																																				0.592	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
HCN3	57657	broad.mit.edu	37	1	155252554	155252554	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155252554C>T	ENST00000368358.3	+	2	639	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	211					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R211C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGCATCGTTCGCTTCACCAA	0.602																																					p.R211C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631T	1						.						64.0	53.0	57.0					1																	155252554		2203	4300	6503	153519178	SO:0001583	missense	57657	exon2			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.631C>T	1.37:g.155252554C>T	ENSP00000357342:p.Arg211Cys		153519178	NM_020897	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171975	0.78452	.	.	ENSG00000143630	ENST00000368358	D	0.98792	-5.14	4.97	4.03	0.46877	Ion transport (1);	0.000000	0.48767	D	0.000172	D	0.99061	0.9678	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99804	1.1037	10	0.87932	D	0	.	10.3674	0.44033	0.3705:0.6295:0.0:0.0	.	211	Q9P1Z3	HCN3_HUMAN	C	211	ENSP00000357342:R211C	ENSP00000357342:R211C	R	+	1	0	HCN3	153519178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.606000	0.61126	1.396000	0.46663	0.591000	0.81541	CGC		0.602	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
PKLR	5313	broad.mit.edu	37	1	155264362	155264362	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155264362G>A	ENST00000342741.4	-	6	914	c.876C>T	c.(874-876)agC>agT	p.S292S	PKLR_ENST00000392414.3_Silent_p.S261S	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	292					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.S292S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGCCACGTCGCTGGCTTTCC	0.612																																					p.S292S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	1						.						91.0	80.0	84.0					1																	155264362		2203	4300	6503	153530986	SO:0001819	synonymous_variant	5313	exon6			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.876C>T	1.37:g.155264362G>A			153530986	NM_000298	O75758|P11973	Silent	SNP	ENST00000342741.4	37	CCDS1109.1																																																																																				0.612	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
PKLR	5313	broad.mit.edu	37	1	155265465	155265465	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155265465G>A	ENST00000342741.4	-	3	404	c.366C>T	c.(364-366)ggC>ggT	p.G122G	PKLR_ENST00000392414.3_Silent_p.G91G	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	122					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.G122G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCTCGTGGGAGCCGTGGGAGA	0.657																																					p.G122G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	1						.						87.0	72.0	77.0					1																	155265465		2203	4300	6503	153532089	SO:0001819	synonymous_variant	5313	exon3			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.366C>T	1.37:g.155265465G>A			153532089	NM_000298	O75758|P11973	Silent	SNP	ENST00000342741.4	37	CCDS1109.1																																																																																				0.657	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
RUSC1	23623	broad.mit.edu	37	1	155298025	155298025	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155298025G>A	ENST00000368352.5	+	9	2650	c.2499G>A	c.(2497-2499)caG>caA	p.Q833Q	RUSC1_ENST00000368354.3_Silent_p.Q727Q|RUSC1_ENST00000368347.4_Silent_p.Q423Q|RUSC1_ENST00000292254.4_Silent_p.Q364Q|RUSC1_ENST00000368349.4_Silent_p.Q364Q|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	833					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.Q364Q(1)|p.Q727Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTTCTCCTCAGGAGCTTGAGG	0.547																																					p.Q364Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1092A	1						.						94.0	91.0	92.0					1																	155298025		2203	4300	6503	153564649	SO:0001819	synonymous_variant	23623	exon8			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2499G>A	1.37:g.155298025G>A			153564649	NM_014328	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.547	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1		
ASH1L	55870	broad.mit.edu	37	1	155340671	155340671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155340671G>A	ENST00000368346.3	-	11	7090	c.6451C>T	c.(6451-6453)Cga>Tga	p.R2151*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2146*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2151	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2146*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCCTCAGCTCGAAATCGTTCT	0.493																																					p.R2146X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6436T	1						.						163.0	166.0	165.0					1																	155340671		2203	4300	6503	153607295	SO:0001587	stop_gained	55870	exon11			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6451C>T	1.37:g.155340671G>A	ENSP00000357330:p.Arg2151*		153607295	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	51	18.596542	0.99907	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.4	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1163	0.72404	0.0:0.0:0.8578:0.1422	.	.	.	.	X	2151;2146	.	ENSP00000357330:R2151X	R	-	1	2	ASH1L	153607295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.718000	0.68455	2.548000	0.85928	0.650000	0.86243	CGA		0.493	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155348173	155348173	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155348173G>A	ENST00000368346.3	-	10	6885	c.6246C>T	c.(6244-6246)taC>taT	p.Y2082Y	ASH1L_ENST00000392403.3_Silent_p.Y2077Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2082	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Y2077Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGACATCAACGTAGACATCTT	0.403																																					p.Y2077Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6231T	1						.						141.0	138.0	139.0					1																	155348173		2203	4300	6503	153614797	SO:0001819	synonymous_variant	55870	exon10			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6246C>T	1.37:g.155348173G>A			153614797	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155348300	155348300	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155348300G>A	ENST00000368346.3	-	9	6871	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2073C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2078	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2073C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACTTGAACGAATTTTCTTA	0.343																																					p.R2073C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6217T	1						.						60.0	60.0	60.0					1																	155348300		2203	4300	6503	153614924	SO:0001583	missense	55870	exon9			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6232C>T	1.37:g.155348300G>A	ENSP00000357330:p.Arg2078Cys		153614924	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.119196	0.77323	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.80824	-1.42;-1.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.69358	2.11	0.80722	D	1	B;B	0.31893	0.234;0.345	B;B	0.19946	0.012;0.027	T	0.73701	-0.3900	10	0.87932	D	0	.	12.8982	0.58111	0.0746:0.0:0.9254:0.0	.	2078;2073	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	2078;2073	ENSP00000357330:R2078C;ENSP00000376204:R2073C	ENSP00000357330:R2078C	R	-	1	0	ASH1L	153614924	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.770000	0.55310	2.941000	0.99782	0.655000	0.94253	CGT		0.343	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155449710	155449710	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155449710C>T	ENST00000368346.3	-	3	3590	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R984H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	984					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R984H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATTTATTTTGCGGATAATTGT	0.318																																					p.R984H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2951A	1						.						49.0	51.0	51.0					1																	155449710		2202	4296	6498	153716334	SO:0001583	missense	55870	exon3			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2951G>A	1.37:g.155449710C>T	ENSP00000357330:p.Arg984His		153716334	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	C	16.66	3.185918	0.57909	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90385	-2.66;-2.66	5.16	5.16	0.70880	.	0.062767	0.64402	D	0.000003	D	0.86928	0.6051	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60236	0.747;0.871	D	0.90344	0.4361	10	0.66056	D	0.02	.	18.4468	0.90686	0.0:1.0:0.0:0.0	.	984;984	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	984	ENSP00000357330:R984H;ENSP00000376204:R984H	ENSP00000357330:R984H	R	-	2	0	ASH1L	153716334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.932000	0.70121	2.699000	0.92147	0.650000	0.86243	CGC		0.318	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
YY1AP1	55249	broad.mit.edu	37	1	155649246	155649246	+	Missense_Mutation	SNP	G	G	A	rs550862847		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155649246G>A	ENST00000295566.4	-	4	300	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	YY1AP1_ENST00000368330.2_Missense_Mutation_p.R27C|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R16C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R27C|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R165C|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R165C|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.R165C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.R16C|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R16C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R16C|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R27C|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R27C|YY1AP1_ENST00000438245.2_Missense_Mutation_p.R27C|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	93					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R93C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCAGCCACACGCTCCTCCTCT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.0		0.0	False		,,,				2504	0.001				p.R93C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C277T	1						.						144.0	119.0	128.0					1																	155649246		2203	4300	6503	153915870	SO:0001583	missense	55249	exon4			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.277C>T	1.37:g.155649246G>A	ENSP00000295566:p.Arg93Cys		153915870	NM_001198906	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	G	7.194	0.592040	0.13812	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.24723	1.89;1.87;1.89;1.87;1.89;1.84;1.85;1.87;1.89;1.88;1.84	3.18	2.13	0.27403	.	0.698583	0.14375	N	0.323540	T	0.14874	0.0359	L	0.56769	1.78	0.30588	N	0.761821	B;B;D;B;B;B;B	0.61080	0.011;0.015;0.989;0.084;0.001;0.005;0.031	B;B;P;B;B;B;B	0.47573	0.006;0.006;0.55;0.016;0.001;0.0;0.004	T	0.03795	-1.1003	10	0.39692	T	0.17	.	7.2751	0.26279	0.0:0.0:0.5748:0.4252	.	27;93;165;165;93;27;165	B4DZQ4;B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	C	16;27;16;27;16;165;93;27;16;27;165;165;27;16;27	ENSP00000352134:R16C;ENSP00000347686:R27C;ENSP00000311138:R16C;ENSP00000316079:R27C;ENSP00000355298:R16C;ENSP00000357324:R165C;ENSP00000295566:R93C;ENSP00000357314:R27C;ENSP00000385791:R16C;ENSP00000385390:R27C;ENSP00000357323:R165C	ENSP00000295566:R93C	R	-	1	0	YY1AP1	153915870	0.006000	0.16342	0.990000	0.47175	0.464000	0.32679	1.627000	0.37050	1.589000	0.49982	0.305000	0.20034	CGT		0.483	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
GON4L	54856	broad.mit.edu	37	1	155722014	155722014	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155722014T>C	ENST00000368331.1	-	30	6258	c.6210A>G	c.(6208-6210)aaA>aaG	p.K2070K	GON4L_ENST00000437809.1_Silent_p.K2069K|GON4L_ENST00000271883.5_Silent_p.K2069K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2070					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K2070K(1)|p.K2069K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGTGTCTGGTTTCCCGGACA	0.527																																					p.K2069K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A6207G	1						.						46.0	47.0	47.0					1																	155722014		1892	4100	5992	153988638	SO:0001819	synonymous_variant	54856	exon30			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6210A>G	1.37:g.155722014T>C			153988638	NM_001037533	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37																																																																																					0.527	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
GON4L	54856	broad.mit.edu	37	1	155735543	155735543	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155735543C>A	ENST00000368331.1	-	21	3769	c.3721G>T	c.(3721-3723)Gcc>Tcc	p.A1241S	GON4L_ENST00000437809.1_Missense_Mutation_p.A1241S|GON4L_ENST00000271883.5_Missense_Mutation_p.A1241S|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A1241S	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1241					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A1241S(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCTGAAAGGCATTTTCCCCA	0.502																																					p.A1241S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3721T	1						.						75.0	78.0	77.0					1																	155735543		2203	4298	6501	154002167	SO:0001583	missense	54856	exon21			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3721G>T	1.37:g.155735543C>A	ENSP00000357315:p.Ala1241Ser		154002167	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	10.62	1.401282	0.25291	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.14391	2.81;2.81;2.81;2.51	5.08	3.08	0.35506	.	0.351848	0.27210	N	0.020411	T	0.03305	0.0096	L	0.50333	1.59	0.26123	N	0.980523	B;P;B;P	0.38335	0.427;0.627;0.41;0.545	B;B;B;B	0.32980	0.082;0.156;0.064;0.136	T	0.34625	-0.9821	10	0.20046	T	0.44	.	5.5444	0.17055	0.1645:0.6494:0.0:0.1861	.	1241;437;1241;1241	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	S	1241	ENSP00000396117:A1241S;ENSP00000357315:A1241S;ENSP00000271883:A1241S;ENSP00000354322:A1241S	ENSP00000271883:A1241S	A	-	1	0	GON4L	154002167	0.709000	0.27886	0.995000	0.50966	0.300000	0.27592	0.040000	0.13905	1.379000	0.46325	0.650000	0.86243	GCC		0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
GON4L	54856	broad.mit.edu	37	1	155796652	155796652	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155796652C>A	ENST00000368331.1	-	3	721	c.673G>T	c.(673-675)Gat>Tat	p.D225Y	GON4L_ENST00000437809.1_Missense_Mutation_p.D225Y|GON4L_ENST00000271883.5_Missense_Mutation_p.D225Y|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.D225Y	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	225					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D225Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTCCACCATCTTCTATCTCT	0.408																																					p.D225Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673T	1						.						116.0	113.0	114.0					1																	155796652		2203	4300	6503	154063276	SO:0001583	missense	54856	exon3			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.673G>T	1.37:g.155796652C>A	ENSP00000357315:p.Asp225Tyr		154063276	NM_032292	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	18.73	3.686827	0.68157	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.14893	2.66;2.67;2.66;2.47	4.69	4.69	0.59074	.	0.268177	0.29021	N	0.013392	T	0.20495	0.0493	L	0.34521	1.04	0.33459	D	0.584713	P;D;P;P	0.89917	0.874;1.0;0.769;0.852	P;D;B;P	0.91635	0.667;0.999;0.332;0.533	T	0.01175	-1.1428	10	0.72032	D	0.01	.	13.3018	0.60330	0.0:1.0:0.0:0.0	.	225;225;225;225	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Y	225	ENSP00000396117:D225Y;ENSP00000357315:D225Y;ENSP00000271883:D225Y;ENSP00000354322:D225Y	ENSP00000271883:D225Y	D	-	1	0	GON4L	154063276	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.586000	0.53950	2.605000	0.88082	0.491000	0.48974	GAT		0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	
RIT1	6016	broad.mit.edu	37	1	155870193	155870193	+	Missense_Mutation	SNP	C	C	A	rs545031201		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155870193C>A	ENST00000368323.3	-	6	850	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	RIT1_ENST00000368322.3_Missense_Mutation_p.D233Y|RIT1_ENST00000539040.1_Missense_Mutation_p.D180Y	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	216					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.D216Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GTTACTGAATCTTTCTTCTTC	0.423																																					p.D216Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646T	1						.						232.0	237.0	236.0					1																	155870193		2203	4300	6503	154136817	SO:0001583	missense	6016	exon6			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.646G>T	1.37:g.155870193C>A	ENSP00000357306:p.Asp216Tyr		154136817	NM_006912	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527626	0.44969	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.68624	-0.33;0.12;-0.34	5.13	5.13	0.70059	.	0.143694	0.46442	D	0.000295	T	0.32224	0.0822	N	0.08118	0	0.51012	D	0.999905	B	0.23854	0.092	B	0.14578	0.011	T	0.39663	-0.9603	10	0.87932	D	0	.	12.7597	0.57356	0.0:0.9204:0.0:0.0795	.	216	Q92963	RIT1_HUMAN	Y	216;180;233	ENSP00000357306:D216Y;ENSP00000441950:D180Y;ENSP00000357305:D233Y	ENSP00000357305:D233Y	D	-	1	0	RIT1	154136817	0.992000	0.36948	0.789000	0.31954	0.977000	0.68977	2.993000	0.49425	2.665000	0.90641	0.591000	0.81541	GAT		0.423	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912	
KIAA0907	22889	broad.mit.edu	37	1	155895603	155895603	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:155895603C>T	ENST00000368321.3	-	7	736	c.713G>A	c.(712-714)gGt>gAt	p.G238D	KIAA0907_ENST00000368320.3_Missense_Mutation_p.G238D|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.G238D|SCARNA4_ENST00000516999.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	238							RNA binding (GO:0003723)	p.G238D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ATGTTCTAGACCCACAAATAA	0.363																																					p.G238D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	1						.						66.0	63.0	64.0					1																	155895603		2203	4300	6503	154162227	SO:0001583	missense	22889	exon7			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.713G>A	1.37:g.155895603C>T	ENSP00000357304:p.Gly238Asp		154162227	NM_014949	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511291	0.85389	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.42513	0.97;0.97;0.97	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	L	0.48935	1.535	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.996	D;P;P	0.70935	0.971;0.87;0.87	T	0.44298	-0.9337	10	0.45353	T	0.12	-9.8406	19.3789	0.94523	0.0:1.0:0.0:0.0	.	238;238;238	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	D	238	ENSP00000357304:G238D;ENSP00000357303:G238D;ENSP00000357302:G238D	ENSP00000357302:G238D	G	-	2	0	KIAA0907	154162227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.664000	0.90586	0.650000	0.86243	GGT		0.363	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
LAMTOR2	28956	broad.mit.edu	37	1	156025082	156025082	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156025082G>T	ENST00000368305.4	+	2	235	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A33S|LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A33S|UBQLN4_ENST00000472638.1_5'Flank|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	33					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)		p.A33S(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						ATCACTGCTGGCCTACTCTGG	0.592																																					p.A33S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97T	1						.						108.0	114.0	112.0					1																	156025082		2203	4300	6503	154291706	SO:0001583	missense	28956	exon2			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.97G>T	1.37:g.156025082G>T	ENSP00000357288:p.Ala33Ser		154291706	NM_001145264	Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924262	0.92319	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.27402	1.67;1.67;1.67	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.53561	1.675	0.80722	D	1	B;B	0.30104	0.052;0.268	B;P	0.44561	0.122;0.453	T	0.08146	-1.0736	10	0.37606	T	0.19	-11.2792	18.4132	0.90559	0.0:0.0:1.0:0.0	.	33;33	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	S	33	ENSP00000357288:A33S;ENSP00000357287:A33S;ENSP00000357285:A33S	ENSP00000357285:A33S	A	+	1	0	LAMTOR2	154291706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.687000	0.91594	0.655000	0.94253	GCC		0.592	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017	
MEX3A	92312	broad.mit.edu	37	1	156047000	156047000	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156047000C>T	ENST00000532414.2	-	2	927	c.928G>A	c.(928-930)Gac>Aac	p.D310N	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	310						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D429N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ATTGCTGCGTCGGGGCTCCCC	0.657																																					p.D310N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	1						.						70.0	82.0	78.0					1																	156047000		2049	4189	6238	154313624	SO:0001583	missense	92312	exon2			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.928G>A	1.37:g.156047000C>T	ENSP00000432845:p.Asp310Asn		154313624	NM_001093725		Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253876	0.22965	.	.	ENSG00000254726	ENST00000532414	T	0.59083	0.29	5.59	5.59	0.84812	.	0.280305	0.33553	N	0.004796	T	0.39306	0.1073	L	0.42245	1.32	0.39167	D	0.962521	B	0.22480	0.07	B	0.08055	0.003	T	0.27773	-1.0064	10	0.45353	T	0.12	.	18.1563	0.89692	0.0:1.0:0.0:0.0	.	310	A1L020	MEX3A_HUMAN	N	310	ENSP00000432845:D310N	ENSP00000432845:D310N	D	-	1	0	MEX3A	154313624	0.999000	0.42202	0.974000	0.42286	0.058000	0.15608	3.441000	0.52893	2.637000	0.89404	0.313000	0.20887	GAC		0.657	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725	
SEMA4A	64218	broad.mit.edu	37	1	156146475	156146475	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156146475G>A	ENST00000368285.3	+	15	2240	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	SEMA4A_ENST00000368284.1_Missense_Mutation_p.R526Q|SEMA4A_ENST00000355014.2_Missense_Mutation_p.R658Q|SEMA4A_ENST00000368286.2_Missense_Mutation_p.R526Q|SEMA4A_ENST00000368282.1_Missense_Mutation_p.R658Q	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	658					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R658L(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGCATCCCCCGGGAGCATGTG	0.607																																					p.R658Q												.	.	1	Substitution - Missense(1)	lung(1)	c.G1973A	1						.						64.0	64.0	64.0					1																	156146475		2203	4300	6503	154413099	SO:0001583	missense	64218	exon15			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1973G>A	1.37:g.156146475G>A	ENSP00000357268:p.Arg658Gln		154413099	NM_022367	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990968	0.54041	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.48	4.48	0.54585	.	0.541990	0.16346	N	0.218459	T	0.29223	0.0727	M	0.63428	1.95	0.34278	D	0.681769	P;P	0.47034	0.889;0.889	B;B	0.37888	0.26;0.26	T	0.19844	-1.0293	10	0.25106	T	0.35	.	14.696	0.69121	0.0:0.0:1.0:0.0	.	526;658	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	Q	658;658;526;620;620;526;658	ENSP00000347117:R658Q;ENSP00000357268:R658Q;ENSP00000357267:R526Q;ENSP00000357269:R526Q;ENSP00000357265:R658Q	ENSP00000347117:R658Q	R	+	2	0	SEMA4A	154413099	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.840000	0.48215	2.336000	0.79503	0.313000	0.20887	CGG		0.607	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367	
RHBG	57127	broad.mit.edu	37	1	156354578	156354578	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156354578G>A	ENST00000368249.1	+	10	1357	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	RHBG_ENST00000255013.3_Missense_Mutation_p.R371Q|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000400992.2_Missense_Mutation_p.R408Q|RHBG_ENST00000368246.2_Missense_Mutation_p.E439K	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	440					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R440Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGTGCCTGGCGAGCATGAGGA	0.602											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R440Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1319A	1						.						48.0	56.0	53.0					1																	156354578		2001	4156	6157	154621202	SO:0001583	missense	57127	exon10			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1319G>A	1.37:g.156354578G>A	ENSP00000357232:p.Arg440Gln	1777	154621202	NM_020407	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.561|9.561	1.118492|1.118492	0.20877|0.20877	.|.	.|.	ENSG00000132677|ENSG00000132677	ENST00000368246|ENST00000368249;ENST00000400992;ENST00000255013	T|T;T;T	0.19532|0.24538	2.14|2.04;1.85;1.87	5.55|5.55	2.46|2.46	0.29980|0.29980	.|.	.|0.567013	.|0.17914	.|N	.|0.157760	T|T	0.02649|0.02649	0.0080|0.0080	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;B	.|0.39071	.|0.658;0.305	.|B;B	.|0.26310	.|0.068;0.031	T|T	0.40117|0.40117	-0.9580|-0.9580	7|10	0.54805|0.16896	T|T	0.06|0.51	-15.2438|-15.2438	8.5837|8.5837	0.33644|0.33644	0.0:0.3185:0.5169:0.1646|0.0:0.3185:0.5169:0.1646	.|.	.|408;477	.|Q9H310-3;Q5SZW5	.|.;.	K|Q	439|440;408;371	ENSP00000357229:E439K|ENSP00000357232:R440Q;ENSP00000383777:R408Q;ENSP00000255013:R371Q	ENSP00000357229:E439K|ENSP00000255013:R371Q	E|R	+|+	1|2	0|0	RHBG|RHBG	154621202|154621202	0.176000|0.176000	0.23096|0.23096	0.046000|0.046000	0.18839|0.18839	0.117000|0.117000	0.20001|0.20001	2.039000|2.039000	0.41193|0.41193	0.702000|0.702000	0.31825|0.31825	-0.225000|-0.225000	0.12378|0.12378	GAG|CGA		0.602	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395	
IQGAP3	128239	broad.mit.edu	37	1	156521881	156521881	+	Silent	SNP	G	G	A	rs377601754		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156521881G>A	ENST00000361170.2	-	14	1465	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	485					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.F485F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGGCATCGAAGTAACTGG	0.542																																					p.F485F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	85.0	69.0	74.0		1455	-0.5	1.0	1		74	0,8600		0,0,4300	no	coding-synonymous	IQGAP3	NM_178229.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		485/1632	156521881	1,13005	2203	4300	6503	154788505	SO:0001819	synonymous_variant	128239	exon14			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1455C>T	1.37:g.156521881G>A			154788505	NM_178229	Q5T3H8	Silent	SNP	ENST00000361170.2	37	CCDS1144.1																																																																																				0.542	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
BCAN	63827	broad.mit.edu	37	1	156622065	156622065	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156622065G>A	ENST00000329117.5	+	8	1659	c.1323G>A	c.(1321-1323)ccG>ccA	p.P441P	BCAN_ENST00000361588.5_Silent_p.P441P|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	441	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.P441P(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCATGGTACCGCCCACGGGGT	0.493																																					p.P441P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1323A	1						.						58.0	57.0	57.0					1																	156622065		2203	4299	6502	154888689	SO:0001819	synonymous_variant	63827	exon8			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1323G>A	1.37:g.156622065G>A			154888689	NM_021948	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	CCDS1149.1																																																																																				0.493	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948	
NES	10763	broad.mit.edu	37	1	156640514	156640514	+	Missense_Mutation	SNP	C	C	T	rs529267878		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156640514C>T	ENST00000368223.3	-	4	3598	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1156	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.E1156K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGGCAGCTCGGAGAACTCT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15982	0.0		0.0	False		,,,				2504	0.001				p.E1156K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3466A	1						.						62.0	66.0	65.0					1																	156640514		2203	4300	6503	154907138	SO:0001583	missense	10763	exon4			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3466G>A	1.37:g.156640514C>T	ENSP00000357206:p.Glu1156Lys		154907138	NM_006617	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723201	0.15439	.	.	ENSG00000132688	ENST00000368223	D	0.86030	-2.06	3.48	-1.05	0.10036	.	.	.	.	.	T	0.53867	0.1823	L	0.36672	1.1	0.09310	N	1	P	0.38370	0.628	B	0.24394	0.053	T	0.42965	-0.9420	9	0.66056	D	0.02	.	6.21	0.20623	0.0:0.5665:0.1868:0.2467	.	1156	P48681	NEST_HUMAN	K	1156	ENSP00000357206:E1156K	ENSP00000357206:E1156K	E	-	1	0	NES	154907138	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.175000	0.03102	-0.443000	0.07180	-0.391000	0.06502	GAG		0.632	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617	
SH2D2A	9047	broad.mit.edu	37	1	156779563	156779563	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156779563C>A	ENST00000368199.3	-	6	757	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	SH2D2A_ENST00000368198.3_Nonsense_Mutation_p.E184*|SH2D2A_ENST00000392306.2_Nonsense_Mutation_p.E212*	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	202	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)	p.E202Q(1)|p.E202*(1)|p.E212Q(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTTTGATTCTTCGGTCCTC	0.587																																					p.E174X												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|large_intestine(1)	c.G520T	1						.						143.0	135.0	137.0					1																	156779563		2203	4300	6503	155046187	SO:0001587	stop_gained	9047	exon5			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.604G>T	1.37:g.156779563C>A	ENSP00000357182:p.Glu202*		155046187	NM_001161443	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Nonsense_Mutation	SNP	ENST00000368199.3	37	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624844	0.28889	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	.	.	.	3.76	1.77	0.24775	.	3.070300	0.00760	N	0.001128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.0061	5.0318	0.14413	0.0:0.6621:0.2155:0.1224	.	.	.	.	X	202;184;212	.	ENSP00000357181:E184X	E	-	1	0	SH2D2A	155046187	0.359000	0.24955	0.050000	0.19076	0.079000	0.17450	0.510000	0.22723	0.332000	0.23536	0.555000	0.69702	GAA		0.587	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975	
INSRR	3645	broad.mit.edu	37	1	156816326	156816326	+	Nonsense_Mutation	SNP	G	G	A	rs552398222		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156816326G>A	ENST00000368195.3	-	8	2191	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	599	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R599*(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCAGCGTTCGGAGGTAGACG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19882	0.0		0.0	False		,,,				2504	0.0				p.R599X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1795T	1						.						102.0	74.0	83.0					1																	156816326		2203	4300	6503	155082950	SO:0001587	stop_gained	3645	exon8			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1795C>T	1.37:g.156816326G>A	ENSP00000357178:p.Arg599*		155082950	NM_014215	O60724|Q5VZS3	Nonsense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	43	10.414319	0.99401	.	.	ENSG00000027644	ENST00000368195	.	.	.	5.35	3.49	0.39957	.	0.186794	0.26450	N	0.024318	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3176	0.32111	0.0814:0.0:0.7628:0.1557	.	.	.	.	X	599	.	ENSP00000357178:R599X	R	-	1	2	INSRR	155082950	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	6.556000	0.73932	0.829000	0.34733	-0.152000	0.13540	CGA		0.577	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
ARHGEF11	9826	broad.mit.edu	37	1	156911187	156911187	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:156911187G>T	ENST00000361409.2	-	34	4113	c.3371C>A	c.(3370-3372)cCt>cAt	p.P1124H	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.P1164H|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.P540H	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1124					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1164H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCAGGTTCAGGTTCACCATG	0.547																																					p.P1164H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3491A	1						.						102.0	93.0	96.0					1																	156911187		2203	4300	6503	155177811	SO:0001583	missense	9826	exon35			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3371C>A	1.37:g.156911187G>T	ENSP00000354644:p.Pro1124His		155177811	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682722	0.29872	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.65364	-0.15;-0.15;-0.05	4.61	2.43	0.29744	.	0.871688	0.09800	N	0.754221	T	0.35422	0.0931	N	0.19112	0.55	0.09310	N	1	P;P;P	0.42993	0.797;0.694;0.797	P;B;B	0.47470	0.548;0.243;0.424	T	0.23583	-1.0184	10	0.72032	D	0.01	0.0125	7.4696	0.27340	0.0:0.2873:0.5378:0.1749	.	540;1124;1164	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	H	1164;1124;540	ENSP00000357177:P1164H;ENSP00000354644:P1124H;ENSP00000313470:P540H	ENSP00000313470:P540H	P	-	2	0	ARHGEF11	155177811	0.094000	0.21725	0.001000	0.08648	0.027000	0.11550	1.779000	0.38624	0.460000	0.27045	0.462000	0.41574	CCT		0.547	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
ETV3	2117	broad.mit.edu	37	1	157103953	157103953	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157103953G>T	ENST00000368192.4	-	4	415	c.351C>A	c.(349-351)ttC>ttA	p.F117L	ETV3_ENST00000326786.4_Missense_Mutation_p.F117L|ETV3_ENST00000460850.1_5'Flank	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	117					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.F117L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CCAGCTTGTTGAAGTTAAATT	0.333																																					p.F117L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C351A	1						.						166.0	149.0	154.0					1																	157103953		2203	4300	6503	155370577	SO:0001583	missense	2117	exon4			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.351C>A	1.37:g.157103953G>T	ENSP00000357175:p.Phe117Leu		155370577	NM_001145312	B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166555	0.57476	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.55760	0.5;0.5	6.17	3.34	0.38264	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.183156	0.37761	N	0.001959	T	0.51787	0.1695	L	0.52364	1.645	0.49483	D	0.999797	B;D	0.55605	0.033;0.972	B;D	0.64687	0.036;0.928	T	0.56300	-0.8002	10	0.72032	D	0.01	.	10.8377	0.46696	0.2057:0.0:0.7943:0.0	.	117;117	P41162-2;P41162	.;ETV3_HUMAN	L	117	ENSP00000357175:F117L;ENSP00000327316:F117L	ENSP00000327316:F117L	F	-	3	2	ETV3	155370577	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.036000	0.57304	0.497000	0.27926	-0.150000	0.13652	TTC		0.333	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240	
FCRL5	83416	broad.mit.edu	37	1	157508987	157508987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157508987C>A	ENST00000361835.3	-	7	1448	c.1291G>T	c.(1291-1293)Gga>Tga	p.G431*	FCRL5_ENST00000368189.3_Nonsense_Mutation_p.G431*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.G431*|FCRL5_ENST00000368191.3_Nonsense_Mutation_p.G346*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.G431*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	431	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.G431*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGGCCACTCCTCCTGCAGAG	0.572																																					p.G431X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1291T	1						.						77.0	65.0	69.0					1																	157508987		2203	4300	6503	155775611	SO:0001587	stop_gained	83416	exon7			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1291G>T	1.37:g.157508987C>A	ENSP00000354691:p.Gly431*		155775611	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Nonsense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251598	0.80135	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	.	.	.	3.17	-3.58	0.04597	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.281	0.31900	0.0:0.3625:0.0:0.6375	.	.	.	.	X	431;431;431;346;431	.	ENSP00000349434:G431X	G	-	1	0	FCRL5	155775611	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.631000	0.00871	-0.988000	0.03489	0.462000	0.41574	GGA		0.572	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
FCRL3	115352	broad.mit.edu	37	1	157648642	157648642	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157648642A>C	ENST00000368184.3	-	15	2354	c.2063T>G	c.(2062-2064)cTt>cGt	p.L688R	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.L688R	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	688						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L688R(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGACTGTAAGTTCCTGGTA	0.463																																					p.L688R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2063G	1						.						118.0	111.0	113.0					1																	157648642		2203	4300	6503	155915266	SO:0001583	missense	115352	exon15			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2063T>G	1.37:g.157648642A>C	ENSP00000357167:p.Leu688Arg		155915266	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607011	0.28623	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.48836	0.81;0.8	3.75	0.582	0.17412	.	4.901340	0.00799	N	0.001404	T	0.20414	0.0491	L	0.29908	0.895	0.09310	N	1	B;P;P	0.47677	0.205;0.899;0.893	B;P;B	0.45881	0.013;0.496;0.396	T	0.05801	-1.0863	10	0.52906	T	0.07	.	2.4877	0.04602	0.289:0.0:0.4803:0.2307	.	688;593;688	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	R	688	ENSP00000357169:L688R;ENSP00000357167:L688R	ENSP00000292392:L688R	L	-	2	0	FCRL3	155915266	0.000000	0.05858	0.082000	0.20525	0.024000	0.10985	0.090000	0.15025	0.106000	0.17784	-0.336000	0.08194	CTT		0.463	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
FCRL3	115352	broad.mit.edu	37	1	157665845	157665845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157665845G>A	ENST00000368184.3	-	7	1408	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Nonsense_Mutation_p.R373*	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	373						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R373*(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACGGTGACTCGAATCCACGTG	0.517																																					p.R373X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1117T	1						.						112.0	99.0	104.0					1																	157665845		2203	4300	6503	155932469	SO:0001587	stop_gained	115352	exon7			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1117C>T	1.37:g.157665845G>A	ENSP00000357167:p.Arg373*		155932469	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Nonsense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926830	0.92319	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	.	.	.	5.67	-0.271	0.12922	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	4.7954	0.13270	0.0:0.2127:0.3156:0.4717	.	.	.	.	X	373	.	ENSP00000292392:R373X	R	-	1	2	FCRL3	155932469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.199000	0.09491	-0.143000	0.11334	-0.262000	0.10625	CGA		0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
FCRL3	115352	broad.mit.edu	37	1	157666947	157666947	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157666947G>T	ENST00000368184.3	-	6	1118	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S276Y	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S276Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACGTATCTGAGATCTCAGGCT	0.537																																					p.S276Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C827A	1						.						97.0	82.0	87.0					1																	157666947		2203	4300	6503	155933571	SO:0001583	missense	115352	exon6			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.827C>A	1.37:g.157666947G>T	ENSP00000357167:p.Ser276Tyr		155933571	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793299	0.50102	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.10960	2.82;2.82	5.85	-0.112	0.13572	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.593500	0.01630	N	0.023519	T	0.18383	0.0441	M	0.88640	2.97	0.09310	N	1	D;P	0.54964	0.969;0.82	P;P	0.61132	0.862;0.884	T	0.02301	-1.1180	10	0.66056	D	0.02	.	4.811	0.13344	0.3805:0.0:0.4749:0.1445	.	276;276	Q96P31;Q96P31-6	FCRL3_HUMAN;.	Y	276	ENSP00000357169:S276Y;ENSP00000357167:S276Y	ENSP00000292392:S276Y	S	-	2	0	FCRL3	155933571	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.056000	0.14256	0.077000	0.16863	0.491000	0.48974	TCT		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
FCRL2	79368	broad.mit.edu	37	1	157739665	157739665	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157739665G>T	ENST00000361516.3	-	4	634	c.586C>A	c.(586-588)Cac>Aac	p.H196N	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Missense_Mutation_p.H196N|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	196					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.H196N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCTGCACGTGAATCTGGGAT	0.478																																					p.H196N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C586A	1						.						83.0	81.0	81.0					1																	157739665		2203	4300	6503	156006289	SO:0001583	missense	79368	exon4			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.586C>A	1.37:g.157739665G>T	ENSP00000355157:p.His196Asn		156006289	NM_030764	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630444	0.03610	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.11385	2.78;2.78	4.03	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.497730	0.04581	N	0.395039	T	0.02767	0.0083	L	0.43598	1.365	0.09310	N	1	B;B;B	0.16396	0.017;0.004;0.015	B;B;B	0.16722	0.016;0.007;0.007	T	0.42982	-0.9419	10	0.15066	T	0.55	.	5.263	0.15584	0.1149:0.2221:0.6631:0.0	.	196;196;196	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	N	196	ENSP00000355157:H196N;ENSP00000376100:H196N	ENSP00000355157:H196N	H	-	1	0	FCRL2	156006289	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.009000	0.12765	0.629000	0.30376	0.655000	0.94253	CAC		0.478	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
FCRL2	79368	broad.mit.edu	37	1	157740375	157740375	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157740375T>G	ENST00000361516.3	-	3	182	c.134A>C	c.(133-135)aAa>aCa	p.K45T	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Missense_Mutation_p.K45T|FCRL2_ENST00000368181.4_Missense_Mutation_p.K45T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	45	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K45T(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCTGAATTTTCCAGTTCTG	0.428																																					p.K45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134C	1						.						67.0	67.0	67.0					1																	157740375		2203	4300	6503	156006999	SO:0001583	missense	79368	exon3			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.134A>C	1.37:g.157740375T>G	ENSP00000355157:p.Lys45Thr		156006999	NM_030764	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	T	8.077	0.771631	0.16051	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.10960	2.82;2.82;2.82	4.33	-3.33	0.04958	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.471960	0.01053	U	0.004507	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	B;P;P;B	0.43662	0.001;0.814;0.782;0.036	B;P;P;B	0.46172	0.008;0.484;0.506;0.05	T	0.34925	-0.9809	10	0.72032	D	0.01	.	10.7881	0.46417	0.0:0.6106:0.0:0.3894	.	45;45;45;45	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	T	45	ENSP00000355157:K45T;ENSP00000357163:K45T;ENSP00000376100:K45T	ENSP00000292389:K45T	K	-	2	0	FCRL2	156006999	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.835000	0.01692	-0.537000	0.06290	-0.263000	0.10527	AAA		0.428	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
CD5L	922	broad.mit.edu	37	1	157803134	157803134	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157803134C>A	ENST00000368174.4	-	5	983	c.887G>T	c.(886-888)aGa>aTa	p.R296I	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	296	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R296I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCGGTCTCTGAAGGAGGG	0.577																																					p.R296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G887T	1						.						114.0	117.0	116.0					1																	157803134		2203	4300	6503	156069758	SO:0001583	missense	922	exon5			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.887G>T	1.37:g.157803134C>A	ENSP00000357156:p.Arg296Ile		156069758	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	2.748	-0.260692	0.05791	.	.	ENSG00000073754	ENST00000368174	T	0.36157	1.27	4.84	1.14	0.20703	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	3.435030	0.00792	N	0.001352	T	0.10380	0.0254	N	0.16478	0.41	0.09310	N	1	B	0.22276	0.067	B	0.27380	0.079	T	0.20940	-1.0260	10	0.38643	T	0.18	.	7.6731	0.28470	0.0:0.2904:0.0:0.7096	.	296	O43866	CD5L_HUMAN	I	296	ENSP00000357156:R296I	ENSP00000357156:R296I	R	-	2	0	CD5L	156069758	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.868000	0.04236	0.323000	0.23307	-0.294000	0.09567	AGA		0.577	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD5L	922	broad.mit.edu	37	1	157805906	157805906	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:157805906C>T	ENST00000368174.4	-	3	191	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	32	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R32H(3)|p.R32P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTTCACAGCGGTGGAGGCC	0.622																																					p.R32H												.	.	4	Substitution - Missense(4)	urinary_tract(1)|large_intestine(1)|lung(1)|endometrium(1)	c.G95A	1						.						43.0	46.0	45.0					1																	157805906		2203	4300	6503	156072530	SO:0001583	missense	922	exon3			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.95G>A	1.37:g.157805906C>T	ENSP00000357156:p.Arg32His		156072530	NM_005894	A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256784	0.39896	.	.	ENSG00000073754	ENST00000368174	T	0.36340	1.26	4.85	1.9	0.25705	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.11281	0.0275	L	0.43598	1.365	0.26669	N	0.971761	P	0.50819	0.939	B	0.39027	0.288	T	0.10567	-1.0624	10	0.40728	T	0.16	.	7.7613	0.28955	0.0:0.709:0.0:0.291	.	32	O43866	CD5L_HUMAN	H	32	ENSP00000357156:R32H	ENSP00000357156:R32H	R	-	2	0	CD5L	156072530	0.000000	0.05858	0.569000	0.28460	0.331000	0.28603	-0.759000	0.04761	0.221000	0.20879	0.563000	0.77884	CGC		0.622	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CD1D	912	broad.mit.edu	37	1	158152678	158152678	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158152678G>T	ENST00000368171.3	+	5	1117	c.618G>T	c.(616-618)aaG>aaT	p.K206N		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	206	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.K206N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGAAGCCCAAGGCCTGGCTGT	0.547																																					p.K206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G618T	1						.						73.0	77.0	76.0					1																	158152678		2203	4300	6503	156419302	SO:0001583	missense	912	exon5			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.618G>T	1.37:g.158152678G>T	ENSP00000357153:p.Lys206Asn		156419302	NM_001766	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306373	0.40795	.	.	ENSG00000158473	ENST00000368171	T	0.01665	4.7	5.18	1.73	0.24493	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);	1.182760	0.06173	N	0.678094	T	0.00845	0.0028	M	0.64260	1.97	0.21984	N	0.99943	B	0.32753	0.383	B	0.20955	0.032	T	0.46247	-0.9205	10	0.87932	D	0	-2.0586	5.9386	0.19179	0.3721:0.0:0.6279:0.0	.	206	P15813	CD1D_HUMAN	N	206	ENSP00000357153:K206N	ENSP00000357153:K206N	K	+	3	2	CD1D	156419302	0.531000	0.26338	0.684000	0.30055	0.991000	0.79684	0.145000	0.16157	0.672000	0.31204	0.655000	0.94253	AAG		0.547	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	
CD1A	909	broad.mit.edu	37	1	158224912	158224912	+	Missense_Mutation	SNP	G	G	A	rs140904380		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158224912G>A	ENST00000289429.5	+	2	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20436	0.0		0.0	False		,,,				2504	0.0				p.A33T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	1						.	G	THR/ALA	0,4406		0,0,2203	137.0	115.0	123.0		97	-0.8	0.0	1	dbSNP_134	123	5,8595	4.3+/-15.6	0,5,4295	yes	missense	CD1A	NM_001763.2	58	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	33/328	158224912	5,13001	2203	4300	6503	156491536	SO:0001583	missense	909	exon2			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.97G>A	1.37:g.158224912G>A	ENSP00000289429:p.Ala33Thr		156491536	NM_001763	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	CCDS1174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.67	1.414423	0.25465	0.0	5.81E-4	ENSG00000158477	ENST00000289429	T	0.18174	2.23	4.54	-0.785	0.10950	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.826170	0.03768	N	0.259261	T	0.02267	0.0070	N	0.04203	-0.255	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.41502	-0.9505	10	0.51188	T	0.08	-0.0225	4.9472	0.13994	0.3014:0.0:0.3237:0.3748	.	33	P06126	CD1A_HUMAN	T	33	ENSP00000289429:A33T	ENSP00000289429:A33T	A	+	1	0	CD1A	156491536	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.297000	0.08934	-1.810000	0.00614	GCA		0.468	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763	
CD1C	911	broad.mit.edu	37	1	158261186	158261186	+	Silent	SNP	G	G	A	rs116022586		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158261186G>A	ENST00000368170.3	+	2	603	c.324G>A	c.(322-324)tcG>tcA	p.S108S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	108					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)	p.S108S(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AAGATTACTCGAAATGTAAGT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		20470	0.001		0.0	False		,,,				2504	0.0				p.S108S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G324A	1						.						79.0	78.0	78.0					1																	158261186		2203	4300	6503	156527810	SO:0001819	synonymous_variant	911	exon2			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.324G>A	1.37:g.158261186G>A			156527810	NM_001765	Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	CCDS1175.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	-	1.194	-0.634396	0.03584	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.52	-7.03	0.01584	.	.	.	.	.	T	0.04048	0.0113	.	.	.	0.20403	N	0.999906	.	.	.	.	.	.	T	0.09509	-1.0671	4	.	.	.	.	1.9632	0.03390	0.1547:0.1239:0.3972:0.3242	.	.	.	.	K	43	.	.	E	+	1	0	CD1C	156527810	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.544000	0.00019	-5.865000	0.00008	-2.289000	0.00267	GAA		0.358	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765	
OR10T2	128360	broad.mit.edu	37	1	158368620	158368620	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158368620G>T	ENST00000334438.1	-	1	636	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGAATTAACAGAAAAGGCACC	0.468																																					p.L213M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637A	1						.						58.0	59.0	59.0					1																	158368620		2203	4300	6503	156635244	SO:0001583	missense	128360	exon1			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.637C>A	1.37:g.158368620G>T	ENSP00000334115:p.Leu213Met		156635244	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.826096	0.32237	.	.	ENSG00000186306	ENST00000334438	T	0.44083	0.93	4.57	-0.0451	0.13853	GPCR, rhodopsin-like superfamily (1);	0.499688	0.14898	N	0.291971	T	0.15132	0.0365	L	0.41415	1.275	0.09310	N	1	B	0.26547	0.152	B	0.36766	0.232	T	0.36841	-0.9731	10	0.30078	T	0.28	.	5.4465	0.16537	0.0785:0.3909:0.397:0.1335	.	213	Q8NGX3	O10T2_HUMAN	M	213	ENSP00000334115:L213M	ENSP00000334115:L213M	L	-	1	2	OR10T2	156635244	0.000000	0.05858	0.013000	0.15412	0.804000	0.45430	-2.783000	0.00772	0.119000	0.18210	0.655000	0.94253	CTG		0.468	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR10R2	343406	broad.mit.edu	37	1	158449677	158449677	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158449677A>C	ENST00000368152.1	+	1	10	c.10A>C	c.(10-12)Att>Ctt	p.I4L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I4L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CATGCCCCAAATTCTTATATT	0.423																																					p.I4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10C	1						.						130.0	128.0	128.0					1																	158449677		2203	4300	6503	156716301	SO:0001583	missense	343406	exon1			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.10A>C	1.37:g.158449677A>C	ENSP00000357134:p.Ile4Leu		156716301	NM_001004472	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	a	0.097	-1.157534	0.01686	.	.	ENSG00000198965	ENST00000368152	T	0.00000	9.95	3.88	-7.09	0.01553	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08659	-1.0711	9	0.21014	T	0.42	.	1.2959	0.02070	0.2197:0.3055:0.0953:0.3795	.	4	Q8NGX6	O10R2_HUMAN	L	4	ENSP00000357134:I4L	ENSP00000357134:I4L	I	+	1	0	OR10R2	156716301	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.446000	0.06837	-1.088000	0.03077	-0.403000	0.06358	ATT		0.423	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	
OR6Y1	391112	broad.mit.edu	37	1	158517671	158517671	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158517671C>A	ENST00000302617.3	-	1	224	c.225G>T	c.(223-225)gaG>gaT	p.E75D		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E75D(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CATACCACATCTCCAGGAAGG	0.453																																					p.E75D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	1						.						98.0	93.0	95.0					1																	158517671		2202	4300	6502	156784295	SO:0001583	missense	391112	exon1			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.225G>T	1.37:g.158517671C>A	ENSP00000304807:p.Glu75Asp		156784295	NM_001005189	Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527128	0.44969	.	.	ENSG00000197532	ENST00000302617	T	0.00008	9.61	4.91	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000703	T	0.00039	0.0001	N	0.21097	0.63	0.27702	N	0.945764	D	0.89917	1.0	D	0.83275	0.996	T	0.32824	-0.9892	10	0.02654	T	1	.	5.0082	0.14298	0.0:0.5015:0.2428:0.2557	.	75	Q8NGX8	OR6Y1_HUMAN	D	75	ENSP00000304807:E75D	ENSP00000304807:E75D	E	-	3	2	OR6Y1	156784295	0.001000	0.12720	1.000000	0.80357	0.979000	0.70002	-0.905000	0.04075	0.359000	0.24239	-0.244000	0.11960	GAG		0.453	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189	
OR10Z1	128368	broad.mit.edu	37	1	158576933	158576933	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158576933G>T	ENST00000361284.1	+	1	705	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGGGGCAGAAGAAGGCCTTCT	0.512																																					p.K235N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705T	1						.						171.0	172.0	172.0					1																	158576933		2203	4300	6503	156843557	SO:0001583	missense	128368	exon1			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.705G>T	1.37:g.158576933G>T	ENSP00000354707:p.Lys235Asn		156843557	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724975	0.48833	.	.	ENSG00000198967	ENST00000361284	T	0.00137	8.68	5.25	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.225081	0.24786	N	0.035604	T	0.00073	0.0002	M	0.66939	2.045	0.23243	N	0.998052	P	0.34615	0.459	B	0.37650	0.255	T	0.05599	-1.0875	10	0.59425	D	0.04	.	6.0585	0.19824	0.516:0.0:0.484:0.0	.	235	Q8NGY1	O10Z1_HUMAN	N	235	ENSP00000354707:K235N	ENSP00000354707:K235N	K	+	3	2	OR10Z1	156843557	0.006000	0.16342	0.929000	0.37066	0.978000	0.69477	0.031000	0.13710	0.638000	0.30545	0.650000	0.86243	AAG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
SPTA1	6708	broad.mit.edu	37	1	158609681	158609681	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158609681G>A	ENST00000368147.4	-	34	5034	c.4854C>T	c.(4852-4854)gaC>gaT	p.D1618D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1618					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1618D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAACTCAAAGTCCCGGATGC	0.438																																					p.D1618D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4854T	1						.						186.0	175.0	179.0					1																	158609681		1906	4117	6023	156876305	SO:0001819	synonymous_variant	6708	exon34			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4854C>T	1.37:g.158609681G>A			156876305	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158622424	158622424	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158622424G>A	ENST00000368147.4	-	23	3388	c.3208C>T	c.(3208-3210)Cgg>Tgg	p.R1070W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1070					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1070W(1)|p.R1070R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCTGCCCGATCCAAGAGG	0.428																																					p.R1070W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C3208T	1						.						91.0	84.0	86.0					1																	158622424		1871	4102	5973	156889048	SO:0001583	missense	6708	exon23			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3208C>T	1.37:g.158622424G>A	ENSP00000357129:p.Arg1070Trp		156889048	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883448	0.33255	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.67523	-0.27;-0.27	5.3	2.21	0.28008	.	0.000000	0.29745	N	0.011301	T	0.65471	0.2694	L	0.51422	1.61	0.30771	N	0.742984	D	0.76494	0.999	D	0.68765	0.96	T	0.64228	-0.6457	10	0.52906	T	0.07	.	13.4118	0.60946	0.0:0.0:0.438:0.562	.	1070	P02549	SPTA1_HUMAN	W	1070	ENSP00000357130:R1070W;ENSP00000357129:R1070W	ENSP00000357129:R1070W	R	-	1	2	SPTA1	156889048	0.713000	0.27926	0.411000	0.26484	0.056000	0.15407	0.736000	0.26130	0.768000	0.33290	-0.182000	0.12963	CGG		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158623165	158623165	+	Silent	SNP	G	G	T	rs371406234		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158623165G>T	ENST00000368147.4	-	22	3267	c.3087C>A	c.(3085-3087)gtC>gtA	p.V1029V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1029	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V1029V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTGACATAGACAGCTGGGA	0.552																																					p.V1029V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3087A	1						.						95.0	96.0	96.0					1																	158623165		2042	4179	6221	156889789	SO:0001819	synonymous_variant	6708	exon22			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3087C>A	1.37:g.158623165G>T			156889789	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158639215	158639215	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158639215C>A	ENST00000368147.4	-	14	1996	c.1816G>T	c.(1816-1818)Gat>Tat	p.D606Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	606					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D606Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCATCATCTGCCAACTTT	0.398																																					p.D606Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816T	1						.						285.0	268.0	273.0					1																	158639215		1918	4136	6054	156905839	SO:0001583	missense	6708	exon14			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1816G>T	1.37:g.158639215C>A	ENSP00000357129:p.Asp606Tyr		156905839	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536711	0.65085	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	4.72	4.72	0.59763	.	0.000000	0.33309	N	0.005054	T	0.46171	0.1379	L	0.47716	1.5	0.40352	D	0.979146	D	0.61697	0.99	D	0.64506	0.926	T	0.51116	-0.8746	10	0.66056	D	0.02	.	7.2763	0.26286	0.0:0.8222:0.0:0.1778	.	606	P02549	SPTA1_HUMAN	Y	606	ENSP00000357130:D606Y;ENSP00000357129:D606Y	ENSP00000357129:D606Y	D	-	1	0	SPTA1	156905839	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.220000	0.65267	2.618000	0.88619	0.655000	0.94253	GAT		0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K2	81448	broad.mit.edu	37	1	158670073	158670073	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158670073C>T	ENST00000359610.2	-	1	413	c.370G>A	c.(370-372)Gcc>Acc	p.A124T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATATGGCCAGGTAGTGG	0.473																																					p.A124T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	1						.						116.0	105.0	109.0					1																	158670073		2203	4300	6503	156936697	SO:0001583	missense	81448	exon1			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.370G>A	1.37:g.158670073C>T	ENSP00000352626:p.Ala124Thr		156936697	NM_001005279	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238812	0.79800	.	.	ENSG00000196171	ENST00000359610	T	0.01947	4.54	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001850	T	0.13970	0.0338	H	0.96142	3.775	0.40301	D	0.978616	D	0.76494	0.999	D	0.65987	0.94	T	0.10474	-1.0628	10	0.87932	D	0	-10.1739	16.574	0.84632	0.0:1.0:0.0:0.0	.	124	Q8NGY2	OR6K2_HUMAN	T	124	ENSP00000352626:A124T	ENSP00000352626:A124T	A	-	1	0	OR6K2	156936697	0.996000	0.38824	1.000000	0.80357	0.908000	0.53690	3.493000	0.53266	2.413000	0.81919	0.650000	0.86243	GCC		0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
OR6K6	128371	broad.mit.edu	37	1	158724992	158724992	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158724992G>T	ENST00000368144.2	+	1	483	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M129I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TCCTGCAGATGTACTTTTTCC	0.502																																					p.M129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G387T	1						.						77.0	75.0	76.0					1																	158724992		2203	4300	6503	156991616	SO:0001583	missense	128371	exon1			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.387G>T	1.37:g.158724992G>T	ENSP00000357126:p.Met129Ile		156991616	NM_001005184	B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523541	0.27299	.	.	ENSG00000180433	ENST00000368144	T	0.02015	4.5	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000055	T	0.00967	0.0032	L	0.37750	1.13	0.35695	D	0.815136	B	0.32245	0.361	B	0.28784	0.094	T	0.56914	-0.7900	10	0.39692	T	0.17	-24.6507	9.3473	0.38115	0.0:0.1548:0.6848:0.1604	.	129	Q8NGW6	OR6K6_HUMAN	I	129	ENSP00000357126:M129I	ENSP00000357126:M129I	M	+	3	0	OR6K6	156991616	0.994000	0.37717	1.000000	0.80357	0.907000	0.53573	0.805000	0.27112	2.848000	0.98002	0.655000	0.94253	ATG		0.502	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184	
OR6N1	128372	broad.mit.edu	37	1	158735886	158735886	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158735886A>G	ENST00000335094.2	-	1	606	c.587T>C	c.(586-588)gTc>gCc	p.V196A		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V196A(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)					ATCTACTAGGACATTTATAGA	0.473																																					p.V196A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T587C	1						.						105.0	111.0	109.0					1																	158735886		2203	4300	6503	157002510	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.587T>C	1.37:g.158735886A>G	ENSP00000335535:p.Val196Ala		157002510	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834464	0.32421	.	.	ENSG00000197403	ENST00000335094	T	0.00069	8.77	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.170242	0.27917	N	0.017321	T	0.00073	0.0002	N	0.12853	0.265	0.09310	N	0.999999	P	0.52170	0.951	P	0.53035	0.716	T	0.02179	-1.1200	10	0.54805	T	0.06	-18.139	7.7837	0.29080	0.8143:0.0:0.0:0.1857	.	196	Q8NGY5	OR6N1_HUMAN	A	196	ENSP00000335535:V196A	ENSP00000335535:V196A	V	-	2	0	OR6N1	157002510	0.000000	0.05858	0.982000	0.44146	0.922000	0.55478	0.662000	0.25038	1.986000	0.57962	0.533000	0.62120	GTC		0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
MNDA	4332	broad.mit.edu	37	1	158815417	158815417	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158815417G>T	ENST00000368141.4	+	5	872	c.611G>T	c.(610-612)aGa>aTa	p.R204I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	204	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R204I(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GATGCAAGAAGAAATGTTCCC	0.483																																					p.R204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611T	1						.						61.0	60.0	61.0					1																	158815417		2203	4300	6503	157082041	SO:0001583	missense	4332	exon5			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.611G>T	1.37:g.158815417G>T	ENSP00000357123:p.Arg204Ile		157082041	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721419	0.30503	.	.	ENSG00000163563	ENST00000368141	T	0.05649	3.41	4.0	-1.32	0.09201	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	1.451250	0.04590	N	0.396665	T	0.02848	0.0085	L	0.61218	1.895	0.09310	N	1	D	0.57899	0.981	B	0.42692	0.395	T	0.34179	-0.9839	10	0.52906	T	0.07	0.0617	4.0355	0.09727	0.4293:0.179:0.3917:0.0	.	204	P41218	MNDA_HUMAN	I	204	ENSP00000357123:R204I	ENSP00000357123:R204I	R	+	2	0	MNDA	157082041	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.958000	0.03857	-0.128000	0.11641	-0.176000	0.13171	AGA		0.483	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
MNDA	4332	broad.mit.edu	37	1	158817691	158817691	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158817691T>G	ENST00000368141.4	+	6	1422	c.1161T>G	c.(1159-1161)agT>agG	p.S387R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	387	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S387R(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGTGTGGAAGTCACAGCTTCA	0.433																																					p.S387R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1161G	1						.						119.0	112.0	114.0					1																	158817691		2203	4300	6503	157084315	SO:0001583	missense	4332	exon6			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1161T>G	1.37:g.158817691T>G	ENSP00000357123:p.Ser387Arg		157084315	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	T	5.736	0.320205	0.10845	.	.	ENSG00000163563	ENST00000368141	T	0.21031	2.03	3.76	-3.92	0.04155	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	3.387390	0.01384	N	0.013026	T	0.01489	0.0048	N	0.01576	-0.805	0.09310	N	1	B	0.30179	0.271	B	0.20767	0.031	T	0.20273	-1.0280	10	0.16420	T	0.52	4.3861	5.4577	0.16600	0.0:0.1931:0.4842:0.3227	.	387	P41218	MNDA_HUMAN	R	387	ENSP00000357123:S387R	ENSP00000357123:S387R	S	+	3	2	MNDA	157084315	0.000000	0.05858	0.002000	0.10522	0.381000	0.30169	-1.114000	0.03293	-0.943000	0.03691	0.460000	0.39030	AGT		0.433	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
PYHIN1	149628	broad.mit.edu	37	1	158912050	158912050	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158912050C>T	ENST00000368140.1	+	5	1108	c.863C>T	c.(862-864)tCt>tTt	p.S288F	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S288F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S279F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S279F	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	288	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.S288F(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)					GAAGCCTCTTCTGTATCTGAA	0.348																																					p.S279F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836T	1						.						47.0	48.0	48.0					1																	158912050		2203	4299	6502	157178674	SO:0001583	missense	149628	exon5			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.863C>T	1.37:g.158912050C>T	ENSP00000357122:p.Ser288Phe		157178674	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043373	0.36085	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	2.85	-2.63	0.06133	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.14013	0.0339	M	0.69358	2.11	0.09310	N	1	D;P;D;D	0.63046	0.982;0.933;0.982;0.992	P;P;P;D	0.64506	0.852;0.846;0.852;0.926	T	0.09487	-1.0672	9	0.72032	D	0.01	.	0.4942	0.00569	0.194:0.3484:0.1914:0.2663	.	279;288;279;288	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	F	288;279;288;279	ENSP00000357122:S288F;ENSP00000357120:S279F;ENSP00000376083:S288F;ENSP00000376082:S279F	ENSP00000357120:S279F	S	+	2	0	PYHIN1	157178674	0.000000	0.05858	0.001000	0.08648	0.216000	0.24613	-1.164000	0.03135	-0.285000	0.09089	-0.150000	0.13652	TCT		0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
DNAJC16	23341	broad.mit.edu	37	1	15855713	15855713	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:15855713G>A	ENST00000375847.3	+	2	277	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	DNAJC16_ENST00000375849.1_Missense_Mutation_p.R38Q|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R38Q|CASP9_ENST00000469637.1_5'Flank	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	38	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.R38Q(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGGGTCAGCCGAACAGCCAGT	0.438																																					p.R38Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113A	1						.						85.0	86.0	86.0					1																	15855713		2203	4300	6503	15728300	SO:0001583	missense	23341	exon2			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.113G>A	1.37:g.15855713G>A	ENSP00000365007:p.Arg38Gln		15728300	NM_015291	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804758	0.90623	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.32753	1.44;1.44;1.44	5.65	4.74	0.60224	Heat shock protein DnaJ, N-terminal (5);	0.162637	0.51477	N	0.000088	T	0.32376	0.0827	L	0.41356	1.27	0.24066	N	0.995992	D;D	0.60575	0.958;0.988	P;P	0.50791	0.537;0.65	T	0.16571	-1.0398	10	0.72032	D	0.01	-11.1731	8.4752	0.33009	0.173:0.0:0.827:0.0	.	38;38	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	Q	38	ENSP00000365007:R38Q;ENSP00000364998:R38Q;ENSP00000365009:R38Q	ENSP00000364998:R38Q	R	+	2	0	DNAJC16	15728300	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.389000	0.59639	1.391000	0.46566	0.563000	0.77884	CGA		0.438	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
PYHIN1	149628	broad.mit.edu	37	1	158913597	158913597	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:158913597G>T	ENST00000368140.1	+	6	1265	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K340N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K331N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K331N	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	340	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.K340N(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)					TAAATAGGAAGACGACAATCT	0.348																																					p.K331N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G993T	1						.						65.0	67.0	66.0					1																	158913597		2203	4300	6503	157180221	SO:0001583	missense	149628	exon6			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1020G>T	1.37:g.158913597G>T	ENSP00000357122:p.Lys340Asn		157180221	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729472	0.30684	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.13	-2.57	0.06248	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.12774	0.0310	L	0.47716	1.5	0.09310	N	1	D;D;D;D	0.89917	1.0;0.982;1.0;1.0	D;P;D;D	0.80764	0.993;0.905;0.993;0.994	T	0.07385	-1.0775	9	0.44086	T	0.13	.	4.3417	0.11113	0.5214:0.2099:0.2688:0.0	.	331;340;331;340	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	N	340;331;340;331	ENSP00000357122:K340N;ENSP00000357120:K331N;ENSP00000376083:K340N;ENSP00000376082:K331N	ENSP00000357120:K331N	K	+	3	2	PYHIN1	157180221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.121000	0.00595	-0.466000	0.06943	-0.211000	0.12701	AAG		0.348	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
CADM3	57863	broad.mit.edu	37	1	159163717	159163717	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159163717C>T	ENST00000368125.4	+	5	735	c.578C>T	c.(577-579)tCg>tTg	p.S193L	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.S227L	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	193	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S227L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTCAGCAGCTCGGTGACATTC	0.522																																					p.S227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	1						.						108.0	92.0	97.0					1																	159163717		2203	4300	6503	157430341	SO:0001583	missense	57863	exon6			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.578C>T	1.37:g.159163717C>T	ENSP00000357107:p.Ser193Leu		157430341	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337201	0.60963	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.76060	-0.99;-0.99	5.14	5.14	0.70334	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.283931	0.29692	N	0.011445	T	0.44829	0.1312	L	0.28556	0.865	0.30557	N	0.764842	P;P	0.48162	0.905;0.906	P;B	0.44623	0.455;0.24	T	0.38265	-0.9669	10	0.08599	T	0.76	.	9.4974	0.38997	0.0:0.907:0.0:0.093	.	193;227	Q8N126;Q8N126-2	CADM3_HUMAN;.	L	227;193	ENSP00000357106:S227L;ENSP00000357107:S193L	ENSP00000357106:S227L	S	+	2	0	CADM3	157430341	0.734000	0.28142	0.999000	0.59377	0.990000	0.78478	1.174000	0.31932	2.666000	0.90696	0.655000	0.94253	TCG		0.522	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
CADM3	57863	broad.mit.edu	37	1	159163822	159163822	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159163822A>C	ENST00000368125.4	+	5	840	c.683A>C	c.(682-684)gAa>gCa	p.E228A	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.E262A	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	228	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.E262A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAACGCATTGAAGTTTTATGT	0.493																																					p.E262A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A785C	1						.						103.0	102.0	102.0					1																	159163822		2203	4300	6503	157430446	SO:0001583	missense	57863	exon6			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.683A>C	1.37:g.159163822A>C	ENSP00000357107:p.Glu228Ala		157430446	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043362	0.75732	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	D;D	0.86366	-2.11;-2.11	5.03	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268994	0.37623	N	0.002018	T	0.77096	0.4080	L	0.56199	1.76	0.42043	D	0.991089	B;B	0.29590	0.25;0.119	B;B	0.26202	0.061;0.067	T	0.78828	-0.2050	10	0.46703	T	0.11	.	12.764	0.57380	1.0:0.0:0.0:0.0	.	228;262	Q8N126;Q8N126-2	CADM3_HUMAN;.	A	262;228	ENSP00000357106:E262A;ENSP00000357107:E228A	ENSP00000357106:E262A	E	+	2	0	CADM3	157430446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.402000	0.44521	2.108000	0.64289	0.533000	0.62120	GAA		0.493	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
DNAJC16	23341	broad.mit.edu	37	1	15873342	15873342	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:15873342G>A	ENST00000375847.3	+	6	1004	c.840G>A	c.(838-840)acG>acA	p.T280T	DNAJC16_ENST00000375849.1_Silent_p.T280T|DNAJC16_ENST00000375838.1_Silent_p.T280T	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	280					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.T280T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTGACCAAACGCCCATTGTGC	0.328																																					p.T280T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840A	1						.						103.0	100.0	101.0					1																	15873342		2203	4300	6503	15745929	SO:0001819	synonymous_variant	23341	exon6			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.840G>A	1.37:g.15873342G>A			15745929	NM_015291	Q68D57|Q86X32|Q8N5P4	Silent	SNP	ENST00000375847.3	37	CCDS30606.1																																																																																				0.328	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159169596C>T	ENST00000368125.4	+	8	1165	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.I370I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	336					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I370I(3)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557																																					p.I370I												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C1110T	1						.						176.0	139.0	151.0					1																	159169596		2203	4300	6503	157436220	SO:0001819	synonymous_variant	57863	exon9			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1008C>T	1.37:g.159169596C>T			157436220	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
AGMAT	79814	broad.mit.edu	37	1	15909787	15909787	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:15909787C>T	ENST00000375826.3	-	2	518	c.376G>A	c.(376-378)Gat>Aat	p.D126N	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	126					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)	p.D126N(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCACATCGCCTAGGTCT	0.547																																					p.D126N	NSCLC(126;1678 1780 25805 43508 49531)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						76.0	71.0	72.0					1																	15909787		2203	4300	6503	15782374	SO:0001583	missense	79814	exon2			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.376G>A	1.37:g.15909787C>T	ENSP00000364986:p.Asp126Asn		15782374	NM_024758	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738265	0.89573	.	.	ENSG00000116771	ENST00000375826	T	0.36878	1.23	5.17	4.25	0.50352	Ureohydrolase domain (1);	0.048584	0.85682	N	0.000000	T	0.58495	0.2126	M	0.87456	2.885	0.43724	D	0.996204	D	0.61080	0.989	P	0.59056	0.851	T	0.64605	-0.6368	10	0.56958	D	0.05	-15.0396	11.5463	0.50696	0.0:0.9107:0.0:0.0893	.	126	Q9BSE5	SPEB_HUMAN	N	126	ENSP00000364986:D126N	ENSP00000364986:D126N	D	-	1	0	AGMAT	15782374	0.999000	0.42202	0.671000	0.29857	0.869000	0.49853	4.323000	0.59221	1.152000	0.42452	0.563000	0.77884	GAT		0.547	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
FCER1A	2205	broad.mit.edu	37	1	159275907	159275907	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159275907A>G	ENST00000368115.1	+	5	560	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	FCER1A_ENST00000368114.1_Missense_Mutation_p.Y121C	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	154	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.Y154C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GCTCTCAAGTACTGGTATGAG	0.493																																					p.Y154C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461G	1						.						183.0	160.0	168.0					1																	159275907		2203	4300	6503	157542531	SO:0001583	missense	2205	exon5			BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.461A>G	1.37:g.159275907A>G	ENSP00000357097:p.Tyr154Cys		157542531	NM_002001		Missense_Mutation	SNP	ENST00000368115.1	37	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842965	0.51057	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.09723	2.95;2.95	4.78	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254059	0.28354	N	0.015659	T	0.18718	0.0449	M	0.85630	2.765	0.30546	N	0.765964	D	0.89917	1.0	D	0.79108	0.992	T	0.03684	-1.1013	10	0.87932	D	0	.	7.3907	0.26909	0.6497:0.0:0.0:0.3503	.	154	P12319	FCERA_HUMAN	C	154;121	ENSP00000357097:Y154C;ENSP00000357096:Y121C	ENSP00000357096:Y121C	Y	+	2	0	FCER1A	157542531	0.851000	0.29673	0.100000	0.21137	0.959000	0.62525	1.185000	0.32065	0.299000	0.22661	0.528000	0.53228	TAC		0.493	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001	
FCRL6	343413	broad.mit.edu	37	1	159784039	159784039	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159784039T>G	ENST00000368106.3	+	8	1105	c.1104T>G	c.(1102-1104)ggT>ggG	p.G368G	FCRL6_ENST00000321935.6_Silent_p.G375G|FCRL6_ENST00000392235.3_Silent_p.G273G|FCRL6_ENST00000339348.5_Silent_p.G368G	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	368						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G368G(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AAGATGAAGGTGTTGTCTACT	0.458																																					p.G368G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1104G	1						.						205.0	182.0	190.0					1																	159784039		2203	4300	6503	158050663	SO:0001819	synonymous_variant	343413	exon8			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1104T>G	1.37:g.159784039T>G			158050663	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	37	CCDS30912.1																																																																																				0.458	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310	
CFAP45	25790	broad.mit.edu	37	1	159846360	159846360	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159846360G>A	ENST00000368099.4	-	10	1402	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	CCDC19_ENST00000426543.2_Silent_p.F361F|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.F446F(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GAATCCTCTCGAACTCATCCC	0.532																																					p.F446F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	1						.						86.0	81.0	82.0					1																	159846360		2203	4300	6503	158112984	SO:0001819	synonymous_variant	25790	exon10																														ENST00000368099.4:c.1338C>T	1.37:g.159846360G>A			158112984	NM_012337		Silent	SNP	ENST00000368099.4	37	CCDS30914.1																																																																																				0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
CFAP45	25790	broad.mit.edu	37	1	159847190	159847190	+	Silent	SNP	G	G	A	rs373151220		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159847190G>A	ENST00000368099.4	-	9	1171	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	CCDC19_ENST00000426543.2_Silent_p.I284I|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.I369I(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCAAGCGTGCGATCTCCTTCT	0.542																																					p.I369I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1107T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	310.0	253.0	272.0		1107	-3.7	0.7	1		272	0,8600		0,0,4300	no	coding-synonymous	CCDC19	NM_012337.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		369/552	159847190	1,13005	2203	4300	6503	158113814	SO:0001819	synonymous_variant	25790	exon9																														ENST00000368099.4:c.1107C>T	1.37:g.159847190G>A			158113814	NM_012337		Silent	SNP	ENST00000368099.4	37	CCDS30914.1																																																																																				0.542	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
TAGLN2	8407	broad.mit.edu	37	1	159889569	159889569	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159889569C>A	ENST00000368097.4	-	3	547	c.237G>T	c.(235-237)aaG>aaT	p.K79N	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.K79N|TAGLN2_ENST00000368096.1_Missense_Mutation_p.K100N	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	79	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)		p.K79N(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCCTGGATCTTCTTTACTG	0.532																																					p.K79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	1						.						193.0	180.0	185.0					1																	159889569		2203	4300	6503	158156193	SO:0001583	missense	8407	exon3			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.237G>T	1.37:g.159889569C>A	ENSP00000357077:p.Lys79Asn		158156193	NM_003564	E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670859	0.67814	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.09	5.09	0.68999	Calponin homology domain (5);	0.000000	0.41823	U	0.000802	T	0.76926	0.4056	M	0.93763	3.455	0.52501	D	0.999951	P	0.47350	0.894	P	0.59424	0.857	T	0.82049	-0.0650	9	.	.	.	-30.4484	9.9096	0.41397	0.0:0.9064:0.0:0.0936	.	79	P37802	TAGL2_HUMAN	N	79;100;79;79	ENSP00000357077:K79N;ENSP00000357076:K100N;ENSP00000357075:K79N;ENSP00000412429:K79N	.	K	-	3	2	TAGLN2	158156193	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.576000	0.23744	2.525000	0.85131	0.655000	0.94253	AAG		0.532	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564	
IGSF9	57549	broad.mit.edu	37	1	159897978	159897978	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:159897978C>T	ENST00000368094.1	-	19	3397	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q	TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.R1051Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1067					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R1051Q(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCTCCCTTCGGGGCCATCT	0.667																																					p.R1067Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3200A	1						.						78.0	72.0	74.0					1																	159897978		2198	4294	6492	158164602	SO:0001583	missense	57549	exon19			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3200G>A	1.37:g.159897978C>T	ENSP00000357073:p.Arg1067Gln		158164602	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112171	0.77210	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.73152	-0.72;-0.65	3.63	3.63	0.41609	.	0.000000	0.29266	U	0.012654	T	0.63558	0.2521	N	0.24115	0.695	0.37788	D	0.927261	D;D	0.89917	0.981;1.0	P;D	0.74023	0.551;0.982	T	0.64525	-0.6387	9	.	.	.	-5.1441	12.8415	0.57805	0.0:1.0:0.0:0.0	.	1067;605	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	1051;1067;605	ENSP00000355049:R1051Q;ENSP00000357073:R1067Q	.	R	-	2	0	IGSF9	158164602	0.982000	0.34865	0.996000	0.52242	0.941000	0.58515	2.978000	0.49305	1.852000	0.53769	0.563000	0.77884	CGA		0.667	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
PIGM	93183	broad.mit.edu	37	1	160000274	160000274	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160000274C>A	ENST00000368090.2	-	1	1509	c.1256G>T	c.(1255-1257)aGa>aTa	p.R419I		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	419					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.R419I(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATATTTGATTCTCTCTGTCAG	0.368																																					p.R419I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256T	1						.						120.0	133.0	129.0					1																	160000274		2203	4300	6503	158266898	SO:0001583	missense	93183	exon1			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.1256G>T	1.37:g.160000274C>A	ENSP00000357069:p.Arg419Ile		158266898	NM_145167		Missense_Mutation	SNP	ENST00000368090.2	37	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952659	0.34471	.	.	ENSG00000143315	ENST00000368090	T	0.47869	0.83	4.45	2.41	0.29592	.	0.259954	0.37304	N	0.002157	T	0.18299	0.0439	L	0.48642	1.525	0.47374	D	0.999407	B	0.20671	0.047	B	0.21360	0.034	T	0.05131	-1.0904	9	.	.	.	-20.3242	5.4785	0.16710	0.0:0.7432:0.0:0.2568	.	419	Q9H3S5	PIGM_HUMAN	I	419	ENSP00000357069:R419I	.	R	-	2	0	PIGM	158266898	0.983000	0.35010	0.931000	0.37212	0.647000	0.38526	1.354000	0.34056	1.072000	0.40860	0.462000	0.41574	AGA		0.368	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167	
PIGM	93183	broad.mit.edu	37	1	160000978	160000978	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160000978C>A	ENST00000368090.2	-	1	805	c.552G>T	c.(550-552)gtG>gtT	p.V184V		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	184					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.V184V(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATGTAAGTCACTGGATATA	0.488																																					p.V184V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G552T	1						.						126.0	125.0	126.0					1																	160000978		2203	4300	6503	158267602	SO:0001819	synonymous_variant	93183	exon1			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.552G>T	1.37:g.160000978C>A			158267602	NM_145167		Silent	SNP	ENST00000368090.2	37	CCDS1192.1																																																																																				0.488	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167	
PIGM	93183	broad.mit.edu	37	1	160001428	160001428	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160001428G>T	ENST00000368090.2	-	1	355	c.102C>A	c.(100-102)ttC>ttA	p.F34L		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	34					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.F34L(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACGCCATAGAAAACCAGGG	0.627																																					p.F34L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C102A	1						.						74.0	78.0	77.0					1																	160001428		2203	4300	6503	158268052	SO:0001583	missense	93183	exon1			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.102C>A	1.37:g.160001428G>T	ENSP00000357069:p.Phe34Leu		158268052	NM_145167		Missense_Mutation	SNP	ENST00000368090.2	37	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	G	5.501	0.277474	0.10403	.	.	ENSG00000143315	ENST00000368090	T	0.37584	1.19	5.03	2.0	0.26442	.	0.447701	0.23676	N	0.045679	T	0.04003	0.0112	N	0.02296	-0.605	0.31898	N	0.616309	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	9	.	.	.	-4.9934	8.2388	0.31645	0.0:0.3275:0.5032:0.1693	.	34	Q9H3S5	PIGM_HUMAN	L	34	ENSP00000357069:F34L	.	F	-	3	2	PIGM	158268052	0.997000	0.39634	0.951000	0.38953	0.987000	0.75469	0.908000	0.28545	0.254000	0.21573	0.561000	0.74099	TTC		0.627	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167	
ATP1A2	477	broad.mit.edu	37	1	160099959	160099959	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160099959G>A	ENST00000361216.3	+	12	1618	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	510					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R510H(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCCCAGAGCGCATTCTGGAC	0.592																																					p.R510H												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1529A	1						.						78.0	77.0	78.0					1																	160099959		2203	4300	6503	158366583	SO:0001583	missense	477	exon12			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1529G>A	1.37:g.160099959G>A	ENSP00000354490:p.Arg510His		158366583	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.119607|5.119607	0.94385|0.94385	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.80480	.|-1.38;-1.38	4.61|4.61	4.61|4.61	0.57282|0.57282	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88422|0.88422	0.6432|0.6432	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.90211|0.90211	0.4264|0.4264	5|10	.|0.87932	.|D	.|0	.|.	16.564|16.564	0.84574|0.84574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|510;410;510	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	T|H	221|510;510;213	.|ENSP00000354490:R510H;ENSP00000376066:R510H	.|ENSP00000354490:R510H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158366583|158366583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.852000|9.852000	0.99516|0.99516	2.283000|2.283000	0.76528|0.76528	0.511000|0.511000	0.50034|0.50034	GCA|CGC		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160105338	160105338	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160105338G>A	ENST00000361216.3	+	16	2319	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D744N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	744					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.D744N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGGCAGCCGACATGATCCT	0.582																																					p.D744N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2230A	1						.						140.0	104.0	116.0					1																	160105338		2203	4297	6500	158371962	SO:0001583	missense	477	exon16			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2230G>A	1.37:g.160105338G>A	ENSP00000354490:p.Asp744Asn		158371962	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945628	0.92593	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.99382	-5.8;-5.8	4.31	4.31	0.51392	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	M	0.91459	3.21	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.56563	0.801;0.638	D	0.98776	1.0730	10	0.87932	D	0	.	16.0832	0.81020	0.0:0.0:1.0:0.0	.	644;744	F5GXJ7;P50993	.;AT1A2_HUMAN	N	744;744;447	ENSP00000354490:D744N;ENSP00000376066:D744N	ENSP00000354490:D744N	D	+	1	0	ATP1A2	158371962	1.000000	0.71417	0.995000	0.50966	0.837000	0.47467	9.593000	0.98250	2.383000	0.81215	0.561000	0.74099	GAC		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160105639	160105639	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160105639C>A	ENST00000361216.3	+	17	2384	c.2295C>A	c.(2293-2295)atC>atA	p.I765I	ATP1A2_ENST00000392233.3_Silent_p.I765I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	765					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.I765I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCGCCTGATCTTTGACAACT	0.577																																					p.I765I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2295A	1						.						145.0	128.0	134.0					1																	160105639		2203	4300	6503	158372263	SO:0001819	synonymous_variant	477	exon17			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2295C>A	1.37:g.160105639C>A			158372263	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144776	0.21288	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.38	3.47	0.39725	.	.	.	.	.	T	0.47192	0.1432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45352	-0.9267	4	.	.	.	.	9.8154	0.40849	0.0:0.9017:0.0:0.0983	.	.	.	.	Y	476	.	.	S	+	2	0	ATP1A2	158372263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.553000	0.45837	1.194000	0.43101	0.555000	0.69702	TCT		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160109516	160109516	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160109516G>A	ENST00000361216.3	+	21	3016	c.2927G>A	c.(2926-2928)cGc>cAc	p.R976H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R976H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	976					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R976H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTAGCCCTCCGCATGTACCCG	0.562																																					p.R976H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2927A	1						.						90.0	80.0	83.0					1																	160109516		2203	4300	6503	158376140	SO:0001583	missense	477	exon21			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2927G>A	1.37:g.160109516G>A	ENSP00000354490:p.Arg976His		158376140	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.90|19.90	3.912101|3.912101	0.72983|0.72983	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88586	.|-2.4;-2.4	4.37|4.37	4.37|4.37	0.52481|0.52481	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92987|0.92987	0.7768|0.7768	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|B;D	.|0.76494	.|0.089;0.999	.|B;P	.|0.59703	.|0.027;0.862	D|D	0.93665|0.93665	0.6985|0.6985	5|10	.|0.62326	.|D	.|0.03	.|.	14.8061|14.8061	0.69956|0.69956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|876;976	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	T|H	670|976;976;679	.|ENSP00000354490:R976H;ENSP00000376066:R976H	.|ENSP00000354490:R976H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158376140|158376140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.769000|7.769000	0.85360|0.85360	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.562	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160109746	160109746	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160109746A>G	ENST00000361216.3	+	22	3095	c.3006A>G	c.(3004-3006)cgA>cgG	p.R1002R	ATP1A2_ENST00000392233.3_Silent_p.R991R	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1002					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1002R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGAGGTCCGAAAGCTCATCC	0.582																																					p.R1002R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3006G	1						.						138.0	124.0	129.0					1																	160109746		2203	4300	6503	158376370	SO:0001819	synonymous_variant	477	exon22			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3006A>G	1.37:g.160109746A>G			158376370	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	8.700	0.909568	0.17833	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.37	-8.75	0.00834	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63866	-0.6540	4	.	.	.	.	12.018	0.53326	0.1523:0.377:0.4708:0.0	.	.	.	.	G	696	.	.	E	+	2	0	ATP1A2	158376370	0.000000	0.05858	0.128000	0.21923	0.965000	0.64279	-3.501000	0.00450	-3.561000	0.00141	-0.316000	0.08728	GAA		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A4	480	broad.mit.edu	37	1	160128855	160128855	+	Missense_Mutation	SNP	G	G	T	rs146292275		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160128855G>T	ENST00000368081.4	+	5	1060	c.589G>T	c.(589-591)Gac>Tac	p.D197Y		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	197					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.D197Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGTTGGGAGACCTGGTGGA	0.493																																					p.D197Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589T	1						.	G	TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	141.0	124.0	130.0		589	4.8	1.0	1	dbSNP_134	130	0,8600		0,0,4300	no	missense	ATP1A4	NM_144699.3	160	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	197/1030	160128855	1,13005	2203	4300	6503	158395479	SO:0001583	missense	480	exon5			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.589G>T	1.37:g.160128855G>T	ENSP00000357060:p.Asp197Tyr		158395479	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031809	0.54790	2.27E-4	0.0	ENSG00000132681	ENST00000368081	D	0.97598	-4.45	4.85	4.85	0.62838	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	H	0.99956	5.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97894	1.0299	10	0.87932	D	0	.	15.8419	0.78852	0.0:0.0:1.0:0.0	.	197	Q13733	AT1A4_HUMAN	Y	197	ENSP00000357060:D197Y	ENSP00000357060:D197Y	D	+	1	0	ATP1A4	158395479	1.000000	0.71417	0.999000	0.59377	0.061000	0.15899	9.869000	0.99810	2.399000	0.81585	0.555000	0.69702	GAC		0.493	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160134055	160134055	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160134055C>T	ENST00000368081.4	+	7	1359	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	296					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.I296I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCTGAGATCGAACACTTCA	0.542																																					p.I296I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	1						.						274.0	218.0	237.0					1																	160134055		2203	4300	6503	158400679	SO:0001819	synonymous_variant	480	exon7			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.888C>T	1.37:g.160134055C>T			158400679	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.542	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160141112	160141112	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160141112C>A	ENST00000368081.4	+	11	2034	c.1563C>A	c.(1561-1563)atC>atA	p.I521I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	521					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.I521I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGAGAGGATCTTGGAGTTTT	0.507																																					p.I521I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1563A	1						.						133.0	126.0	128.0					1																	160141112		2203	4300	6503	158407736	SO:0001819	synonymous_variant	480	exon11			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1563C>A	1.37:g.160141112C>A			158407736	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.507	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160145907	160145907	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160145907G>T	ENST00000368081.4	+	16	2808	c.2337G>T	c.(2335-2337)aaG>aaT	p.K779N	ATP1A4_ENST00000470705.1_5'Flank|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	779					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.K779N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAACCTGAAGAAATCCATCA	0.557																																					p.K779N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2337T	1						.						238.0	219.0	225.0					1																	160145907		2203	4300	6503	158412531	SO:0001583	missense	480	exon16			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2337G>T	1.37:g.160145907G>T	ENSP00000357060:p.Lys779Asn		158412531	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668738	0.88348	.	.	ENSG00000132681	ENST00000368081	D	0.98474	-4.95	4.47	4.47	0.54385	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98779	1.0731	10	0.87932	D	0	.	15.05	0.71862	0.0:0.0:1.0:0.0	.	779	Q13733	AT1A4_HUMAN	N	779	ENSP00000357060:K779N	ENSP00000357060:K779N	K	+	3	2	ATP1A4	158412531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.476000	0.83614	0.555000	0.69702	AAG		0.557	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
CASQ1	844	broad.mit.edu	37	1	160164904	160164904	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160164904G>T	ENST00000368078.3	+	4	764	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	CASQ1_ENST00000368079.3_Missense_Mutation_p.D184Y			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	190					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.D184Y(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGAGCAAAGACTCAGAGCG	0.532																																					p.D190Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568T	1						.						137.0	120.0	126.0					1																	160164904		2203	4300	6503	158431528	SO:0001583	missense	844	exon4			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.568G>T	1.37:g.160164904G>T	ENSP00000357057:p.Asp190Tyr		158431528	NM_001231	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679219	0.68042	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.77358	-1.09;-1.09	4.24	4.24	0.50183	Thioredoxin-like fold (2);	0.165039	0.53938	D	0.000057	T	0.80613	0.4656	L	0.52011	1.625	0.46149	D	0.998899	D	0.76494	0.999	D	0.63957	0.92	T	0.83277	-0.0040	10	0.87932	D	0	.	15.9216	0.79580	0.0:0.0:1.0:0.0	.	190	P31415	CASQ1_HUMAN	Y	184;190;105	ENSP00000357058:D184Y;ENSP00000357057:D190Y	ENSP00000357057:D190Y	D	+	1	0	CASQ1	158431528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.151000	0.58105	2.349000	0.79799	0.557000	0.71058	GAC		0.532	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
CASQ1	844	broad.mit.edu	37	1	160168502	160168502	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160168502C>T	ENST00000368078.3	+	8	1060	c.864C>T	c.(862-864)ttC>ttT	p.F288F	CASQ1_ENST00000467691.1_Silent_p.F9F|CASQ1_ENST00000368079.3_Silent_p.F282F			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	288					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)	p.F282F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGTGGCCTTCGCAGAGGAAG	0.532																																					p.F288F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	1						.						106.0	103.0	104.0					1																	160168502		2203	4300	6503	158435126	SO:0001819	synonymous_variant	844	exon8			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.864C>T	1.37:g.160168502C>T			158435126	NM_001231	B1AKZ2|B2R863|Q8TBW7	Silent	SNP	ENST00000368078.3	37	CCDS1198.2																																																																																				0.532	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
DCAF8	50717	broad.mit.edu	37	1	160187498	160187498	+	Splice_Site	SNP	G	G	A	rs371987013		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160187498G>A	ENST00000368073.3	-	14	2112	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	DCAF8_ENST00000368074.1_Splice_Site_p.R560C|DCAF8_ENST00000556710.1_Splice_Site_p.R714C|DCAF8_ENST00000608310.1_Splice_Site_p.R714C|DCAF8_ENST00000326837.2_Splice_Site_p.R560C			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	560					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R560C(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCTCGCCAGCGCTGTGGATGG	0.567																																					p.R560C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1678T	1						.						66.0	67.0	66.0					1																	160187498		2203	4300	6503	158454122	SO:0001630	splice_region_variant	50717	exon14			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1678-1C>T	1.37:g.160187498G>A			158454122	NM_015726	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844275	0.51164	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.18;-0.18	5.23	5.23	0.72850	.	0.309917	0.21839	U	0.068353	T	0.55337	0.1914	M	0.64997	1.995	0.53688	D	0.999979	D;P	0.59767	0.986;0.916	B;B	0.43123	0.409;0.232	T	0.63559	-0.6610	10	0.56958	D	0.05	-6.1442	12.7642	0.57383	0.0:0.0:0.8358:0.1642	.	714;560	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	C	560;560;560;714;541;714	ENSP00000357052:R560C;ENSP00000318227:R560C;ENSP00000357053:R560C;ENSP00000451989:R714C;ENSP00000451235:R714C	ENSP00000318227:R560C	R	-	1	0	RP11-574F21.3;DCAF8	158454122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.563000	0.45922	2.721000	0.93114	0.655000	0.94253	CGC		0.567	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	Missense_Mutation
COPA	1314	broad.mit.edu	37	1	160293311	160293311	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160293311G>A	ENST00000241704.7	-	8	845	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	COPA_ENST00000368069.3_Missense_Mutation_p.R206C|Y_RNA_ENST00000365208.1_RNA	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	206					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R206C(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTACTCCACGATCGTGACCC	0.438																																					p.R206C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616T	1						.						89.0	76.0	80.0					1																	160293311		2203	4300	6503	158559935	SO:0001583	missense	1314	exon8			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.616C>T	1.37:g.160293311G>A	ENSP00000241704:p.Arg206Cys		158559935	NM_004371	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310940	0.81358	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60548	0.18;0.18	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.69587	-0.5105	10	0.87932	D	0	-10.6841	16.8089	0.85713	0.0:0.0:1.0:0.0	.	206;206	P53621;P53621-2	COPA_HUMAN;.	C	206	ENSP00000357048:R206C;ENSP00000241704:R206C	ENSP00000241704:R206C	R	-	1	0	COPA	158559935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.538000	0.85594	0.650000	0.86243	CGT		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371	
SLAMF6	114836	broad.mit.edu	37	1	160456959	160456959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160456959C>A	ENST00000368057.3	-	7	946	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.E185*|SLAMF6_ENST00000368059.3_Nonsense_Mutation_p.E295*			Q96DU3	SLAF6_HUMAN	SLAM family member 6	296						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E295*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GTCCAGATTTCTGTTTCCTGT	0.333																																					p.E296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G886T	1						.						126.0	130.0	129.0					1																	160456959		2203	4300	6503	158723583	SO:0001587	stop_gained	114836	exon7			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.886G>T	1.37:g.160456959C>A	ENSP00000357036:p.Glu296*		158723583	NM_001184714	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Nonsense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998569	0.19121	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	.	.	.	3.82	-5.36	0.02689	.	2.128600	0.02234	N	0.065173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	0.7983	6.7255	0.23355	0.1366:0.2134:0.0:0.6501	.	.	.	.	X	295;296;185	.	ENSP00000357034:E185X	E	-	1	0	SLAMF6	158723583	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.297000	0.08276	-1.277000	0.02411	0.563000	0.77884	GAA		0.333	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
SLAMF6	114836	broad.mit.edu	37	1	160460017	160460017	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160460017G>T	ENST00000368057.3	-	5	827	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	SLAMF6_ENST00000368055.1_Missense_Mutation_p.S145Y|SLAMF6_ENST00000368059.3_Missense_Mutation_p.S256Y			Q96DU3	SLAF6_HUMAN	SLAM family member 6	256						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S256Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTAGACAAAGATAGGGAATC	0.483																																					p.S256Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C767A	1						.						111.0	116.0	115.0					1																	160460017		2203	4300	6503	158726641	SO:0001583	missense	114836	exon5			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.767C>A	1.37:g.160460017G>T	ENSP00000357036:p.Ser256Tyr		158726641	NM_001184714	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	1.719	-0.497167	0.04291	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.41065	1.01;1.01;1.01	3.56	-7.12	0.01537	.	6.669670	0.00166	N	0.000001	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.20671	0.0;0.028;0.047;0.006;0.006	B;B;B;B;B	0.18263	0.0;0.009;0.021;0.006;0.006	T	0.06661	-1.0814	10	0.59425	D	0.04	4.1188	3.0542	0.06179	0.0903:0.3066:0.3037:0.2994	.	145;145;207;256;256	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	Y	256;256;145	ENSP00000357038:S256Y;ENSP00000357036:S256Y;ENSP00000357034:S145Y	ENSP00000357034:S145Y	S	-	2	0	SLAMF6	158726641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.170000	0.01268	-3.010000	0.00273	-1.142000	0.01873	TCT		0.483	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
SLAMF6	114836	broad.mit.edu	37	1	160460919	160460919	+	Silent	SNP	G	G	A	rs145888090	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160460919G>A	ENST00000368057.3	-	3	702	c.642C>T	c.(640-642)tgC>tgT	p.C214C	SLAMF6_ENST00000368055.1_Silent_p.C103C|SLAMF6_ENST00000368059.3_Silent_p.C214C			Q96DU3	SLAF6_HUMAN	SLAM family member 6	214						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C214C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGTTACCTTCGCAAAGCTTCT	0.512																																					p.C214C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	1						.	G	,,,	0,4406		0,0,2203	76.0	78.0	77.0		642,495,309,642	-3.3	0.0	1	dbSNP_134	77	7,8593	5.7+/-21.5	0,7,4293	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLAMF6	NM_001184714.1,NM_001184715.1,NM_001184716.1,NM_052931.4	,,,	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	,,,	214/333,165/283,103/222,214/332	160460919	7,12999	2203	4300	6503	158727543	SO:0001819	synonymous_variant	114836	exon3			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.642C>T	1.37:g.160460919G>A			158727543	NM_001184714	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Silent	SNP	ENST00000368057.3	37	CCDS53394.1																																																																																				0.512	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
SLAMF6	114836	broad.mit.edu	37	1	160461173	160461173	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160461173G>T	ENST00000368057.3	-	3	448	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	SLAMF6_ENST00000368055.1_Missense_Mutation_p.L19M|SLAMF6_ENST00000368059.3_Missense_Mutation_p.L130M			Q96DU3	SLAF6_HUMAN	SLAM family member 6	130						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L130M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ATGTTCCTCAGTTGTCCTGTT	0.403																																					p.L130M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388A	1						.						83.0	81.0	82.0					1																	160461173		2203	4300	6503	158727797	SO:0001583	missense	114836	exon3			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.388C>A	1.37:g.160461173G>T	ENSP00000357036:p.Leu130Met		158727797	NM_001184714	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374347	0.42105	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.26660	2.43;2.43;1.72	4.37	3.45	0.39498	Immunoglobulin-like fold (1);	0.084555	0.47093	D	0.000249	T	0.43700	0.1259	M	0.90977	3.165	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;1.0;1.0;0.999;0.999	T	0.39603	-0.9606	10	0.72032	D	0.01	-16.2418	9.8955	0.41316	0.0:0.0:0.7973:0.2027	.	19;19;81;130;130;130	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;.;.;SLAF6_HUMAN;.	M	130;130;19	ENSP00000357038:L130M;ENSP00000357036:L130M;ENSP00000357034:L19M	ENSP00000357034:L19M	L	-	1	2	SLAMF6	158727797	0.518000	0.26234	0.024000	0.17045	0.095000	0.18619	2.700000	0.47085	1.181000	0.42912	0.655000	0.94253	CTG		0.403	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
CD84	8832	broad.mit.edu	37	1	160523189	160523189	+	Missense_Mutation	SNP	G	G	T	rs111581582		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160523189G>T	ENST00000311224.4	-	4	805	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368048.3_Missense_Mutation_p.R247S|CD84_ENST00000368054.3_Missense_Mutation_p.R247S|CD84_ENST00000534968.1_Missense_Mutation_p.R133S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.R247S	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	247					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R247S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGAACAAACGGAACAAAAAC	0.463																																					p.R247S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739A	1						.						88.0	88.0	88.0					1																	160523189		2203	4300	6503	158789813	SO:0001583	missense	8832	exon4			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.739C>A	1.37:g.160523189G>T	ENSP00000312367:p.Arg247Ser		158789813	NM_001184881	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772565	0.31411	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056	T;T;T;T;T;T	0.63096	2.42;0.12;0.19;0.21;1.18;-0.02	4.93	1.02	0.19986	.	2.441840	0.02033	U	0.048661	T	0.28896	0.0717	L	0.34521	1.04	0.09310	N	1	B;P;P;B;B;P	0.37573	0.369;0.6;0.6;0.072;0.035;0.468	B;B;B;B;B;B	0.37346	0.091;0.247;0.168;0.025;0.034;0.168	T	0.09885	-1.0654	10	0.22109	T	0.4	4.5478	6.7197	0.23323	0.3772:0.0:0.6228:0.0	.	247;247;133;247;247;247	Q9UIB8-5;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	S	133;247;247;247;247;247	ENSP00000442845:R133S;ENSP00000357033:R247S;ENSP00000357027:R247S;ENSP00000312367:R247S;ENSP00000357030:R247S;ENSP00000353163:R247S	ENSP00000312367:R247S	R	-	1	0	CD84	158789813	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	0.363000	0.20301	0.095000	0.17434	0.650000	0.86243	CGT		0.463	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
SLAMF1	6504	broad.mit.edu	37	1	160582285	160582285	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160582285G>T	ENST00000302035.6	-	6	1299	c.950C>A	c.(949-951)tCt>tAt	p.S317Y	SLAMF1_ENST00000235739.5_Missense_Mutation_p.S287Y|SLAMF1_ENST00000538290.1_3'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	317					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S317Y(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACCTGGACAGACTCTGGGAC	0.488																																					p.S317Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950A	1						.						54.0	51.0	52.0					1																	160582285		2203	4300	6503	158848909	SO:0001583	missense	6504	exon6			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.950C>A	1.37:g.160582285G>T	ENSP00000306190:p.Ser317Tyr		158848909	NM_003037	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181176	0.21787	.	.	ENSG00000117090	ENST00000302035;ENST00000235739	T;T	0.46819	0.86;0.86	4.18	3.26	0.37387	.	0.763645	0.11973	N	0.511603	T	0.22666	0.0547	L	0.36672	1.1	0.20873	N	0.999837	P	0.44877	0.845	B	0.40782	0.34	T	0.04621	-1.0938	10	0.72032	D	0.01	-31.9671	10.1934	0.43041	0.0:0.2015:0.7985:0.0	.	317	Q13291	SLAF1_HUMAN	Y	317;287	ENSP00000306190:S317Y;ENSP00000235739:S287Y	ENSP00000235739:S287Y	S	-	2	0	SLAMF1	158848909	0.702000	0.27816	0.017000	0.16124	0.053000	0.15095	3.699000	0.54778	1.332000	0.45431	-0.165000	0.13383	TCT		0.488	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
SLAMF1	6504	broad.mit.edu	37	1	160607239	160607239	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160607239T>G	ENST00000302035.6	-	2	506	c.157A>C	c.(157-159)Aat>Cat	p.N53H	SLAMF1_ENST00000235739.5_Missense_Mutation_p.N53H|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N53H|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N53H	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	53	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.N53H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGCTCTTATTTATCCTTTCA	0.478																																					p.N53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A157C	1						.						139.0	108.0	119.0					1																	160607239		2203	4300	6503	158873863	SO:0001583	missense	6504	exon2			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.157A>C	1.37:g.160607239T>G	ENSP00000306190:p.Asn53His		158873863	NM_003037	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725216	0.48833	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.19	4.19	0.49359	Signaling lymphocytic activation molecule, N-terminal (2);	0.591047	0.15229	N	0.273515	T	0.44180	0.1281	L	0.39898	1.24	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.70227	0.968;0.935	T	0.24083	-1.0170	10	0.56958	D	0.05	-16.2659	9.9337	0.41539	0.0:0.0:0.0:1.0	.	53;53	B4E2E4;Q13291	.;SLAF1_HUMAN	H	53	ENSP00000306190:N53H;ENSP00000235739:N53H;ENSP00000438406:N53H;ENSP00000347333:N53H	ENSP00000235739:N53H	N	-	1	0	SLAMF1	158873863	0.002000	0.14202	0.090000	0.20809	0.681000	0.39784	0.945000	0.29056	2.117000	0.64856	0.402000	0.26972	AAT		0.478	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
F11R	50848	broad.mit.edu	37	1	160970814	160970814	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:160970814G>T	ENST00000368026.6	-	3	511	c.237C>A	c.(235-237)atC>atA	p.I79I	F11R_ENST00000537746.1_Silent_p.I79I|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	79	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I79I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ACTCACCTGTGATCTTGTTAT	0.498																																					p.I79I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237A	1						.						112.0	100.0	104.0					1																	160970814		2203	4300	6503	159237438	SO:0001819	synonymous_variant	50848	exon3			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.237C>A	1.37:g.160970814G>T			159237438	NM_016946	B7Z941	Silent	SNP	ENST00000368026.6	37	CCDS1213.1																																																																																				0.498	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
PLEKHM2	23207	broad.mit.edu	37	1	16060342	16060342	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16060342C>T	ENST00000375799.3	+	20	3200	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F	PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA|SLC25A34_ENST00000294454.5_5'Flank|PLEKHM2_ENST00000375793.2_Silent_p.F971F	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	991					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)	p.F991F(1)|p.F991L(1)|p.F1094L(1)|p.F1094F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGAAATTCGAGGATGCCT	0.637																																					p.F991F												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.C2973T	1						.						70.0	80.0	77.0					1																	16060342		2069	4205	6274	15932929	SO:0001819	synonymous_variant	23207	exon20			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2973C>T	1.37:g.16060342C>T			15932929	NM_015164	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Silent	SNP	ENST00000375799.3	37	CCDS44063.1																																																																																				0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164	
ARHGAP30	257106	broad.mit.edu	37	1	161018732	161018732	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161018732C>T	ENST00000368013.3	-	12	2399	c.2079G>A	c.(2077-2079)ggG>ggA	p.G693G	ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.G516G|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	693	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.G693G(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCAGCCTCCCCTCTATCCT	0.557																																					p.G693G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2079A	1						.						186.0	193.0	191.0					1																	161018732		2203	4300	6503	159285356	SO:0001819	synonymous_variant	257106	exon12			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2079G>A	1.37:g.161018732C>T			159285356	NM_001025598	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	ENST00000368013.3	37	CCDS30918.1																																																																																				0.557	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720	
NIT1	4817	broad.mit.edu	37	1	161088609	161088609	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161088609C>T	ENST00000368009.2	+	2	112	c.36C>T	c.(34-36)ttC>ttT	p.F12F	NIT1_ENST00000496861.1_3'UTR|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Intron|NIT1_ENST00000368008.1_Silent_p.F12F|PFDN2_ENST00000468311.1_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_5'UTR	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	12					nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)	p.F12F(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCACAGATTCCTGTCCCTTC	0.502																																					p.F12F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	1						.						169.0	142.0	151.0					1																	161088609		2203	4300	6503	159355233	SO:0001819	synonymous_variant	4817	exon2			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.36C>T	1.37:g.161088609C>T			159355233	NM_001185092	B1AQP3|D3DVF4|O76091	Silent	SNP	ENST00000368009.2	37	CCDS1218.1																																																																																				0.502	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1		
DEDD	9191	broad.mit.edu	37	1	161092144	161092144	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161092144G>T	ENST00000368006.3	-	6	964	c.750C>A	c.(748-750)ttC>ttA	p.F250L	DEDD_ENST00000458050.2_Missense_Mutation_p.F250L|DEDD_ENST00000368005.1_Missense_Mutation_p.F280L|DEDD_ENST00000490843.2_Missense_Mutation_p.F250L|DEDD_ENST00000545495.1_Missense_Mutation_p.F250L|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000392188.1_Missense_Mutation_p.F280L|DEDD_ENST00000489249.1_5'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	250					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.F250L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGAGCTCAGAGAACTTGATGT	0.512																																					p.F250L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C750A	1						.						152.0	140.0	144.0					1																	161092144		2203	4300	6503	159358768	SO:0001583	missense	9191	exon6			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.750C>A	1.37:g.161092144G>T	ENSP00000356985:p.Phe250Leu		159358768	NM_001039712	D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676174	0.67928	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.27	3.42	0.39159	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.68952	2.095	0.58432	D	0.999999	D;D;D	0.76494	0.996;0.999;0.993	D;D;D	0.79784	0.986;0.993;0.935	T	0.67189	-0.5733	9	0.87932	D	0	.	10.0705	0.42330	0.1631:0.0:0.8369:0.0	.	207;280;250	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	L	250;280;250;250;250;280;207	.	ENSP00000356984:F280L	F	-	3	2	DEDD	159358768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.530000	0.67141	0.803000	0.34113	-0.137000	0.14449	TTC		0.512	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216	
B4GALT3	8703	broad.mit.edu	37	1	161145843	161145843	+	Missense_Mutation	SNP	C	C	T	rs375294931		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161145843C>T	ENST00000319769.5	-	3	230	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R3Q|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	3					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.R3Q(1)		cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CAGCAGCCTCCGCAACATCCT	0.617																																					p.R3Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8A	1						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	40.0	41.0	41.0		8,8,8	4.5	1.0	1		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	B4GALT3	NM_001199873.1,NM_001199874.1,NM_003779.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	3/394,3/394,3/394	161145843	1,13005	2203	4300	6503	159412467	SO:0001583	missense	8703	exon3			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.8G>A	1.37:g.161145843C>T	ENSP00000320965:p.Arg3Gln		159412467	NM_001199874	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604358	0.87157	0.0	1.16E-4	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000310413;ENST00000367998;ENST00000367997	T;T	0.52057	0.68;0.68	5.49	4.52	0.55395	.	0.434742	0.24815	N	0.035365	T	0.29158	0.0725	N	0.19112	0.55	0.40091	D	0.976259	D;D	0.65815	0.988;0.995	B;P	0.48952	0.411;0.596	T	0.06092	-1.0846	10	0.42905	T	0.14	-12.918	14.0074	0.64473	0.152:0.8479:0.0:0.0	.	3;3	B3KPV4;O60512	.;B4GT3_HUMAN	Q	3	ENSP00000320965:R3Q;ENSP00000356977:R3Q	ENSP00000308551:R3Q	R	-	2	0	B4GALT3	159412467	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.266000	0.65525	2.570000	0.86706	0.557000	0.71058	CGG		0.617	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779	
ADAMTS4	9507	broad.mit.edu	37	1	161167952	161167952	+	Missense_Mutation	SNP	G	G	A	rs546291574		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161167952G>A	ENST00000367996.5	-	1	894	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.R156W|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	156					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.R156W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TCAGCCCCCCGATATTGTAAC	0.632																																					p.R156W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C466T	1						.						57.0	58.0	58.0					1																	161167952		2203	4300	6503	159434576	SO:0001583	missense	9507	exon1			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.466C>T	1.37:g.161167952G>A	ENSP00000356975:p.Arg156Trp		159434576	NM_005099	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401656	0.42613	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	T;T	0.06449	3.3;3.3	5.44	4.5	0.54988	Peptidase M12B, propeptide (1);	0.244243	0.27773	N	0.017910	T	0.09202	0.0227	L	0.52573	1.65	0.31738	N	0.636143	D;D	0.76494	0.999;0.999	P;P	0.61658	0.877;0.892	T	0.01512	-1.1336	10	0.66056	D	0.02	.	14.1608	0.65446	0.0:0.0:0.8486:0.1514	.	156;156	Q5VTW1;O75173	.;ATS4_HUMAN	W	156	ENSP00000356975:R156W;ENSP00000356974:R156W	ENSP00000356974:R156W	R	-	1	2	ADAMTS4	159434576	0.797000	0.28877	0.018000	0.16275	0.446000	0.32137	2.515000	0.45512	1.230000	0.43646	0.491000	0.48974	CGG		0.632	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
NDUFS2	4720	broad.mit.edu	37	1	161179284	161179284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161179284G>T	ENST00000367993.3	+	6	974	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	NDUFS2_ENST00000476409.2_Nonsense_Mutation_p.E78*|NDUFS2_ENST00000392179.4_Nonsense_Mutation_p.E176*	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	176					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)	p.E176*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GCTGTTTGGAGAAATCACACG	0.522											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G526T	1						.						90.0	78.0	82.0					1																	161179284		2203	4300	6503	159445908	SO:0001587	stop_gained	4720	exon6			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.526G>T	1.37:g.161179284G>T	ENSP00000356972:p.Glu176*	1814	159445908	NM_004550	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Nonsense_Mutation	SNP	ENST00000367993.3	37	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	38	6.677258	0.97755	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	.	.	.	5.15	5.15	0.70609	.	0.108901	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5462	0.87863	0.0:0.0:1.0:0.0	.	.	.	.	X	176;176;78	.	ENSP00000356972:E176X	E	+	1	0	NDUFS2	159445908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.709000	0.91379	2.654000	0.90174	0.655000	0.94253	GAA		0.522	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550	
NDUFS2	4720	broad.mit.edu	37	1	161180119	161180119	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161180119G>A	ENST00000367993.3	+	9	1254	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	NDUFS2_ENST00000476409.2_Missense_Mutation_p.R171Q|NDUFS2_ENST00000392179.4_Missense_Mutation_p.R269Q|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	269					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)	p.R269Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AGGATCTGGCGAAATCGGACA	0.428											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R269Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G806A	1						.						137.0	123.0	128.0					1																	161180119		2203	4300	6503	159446743	SO:0001583	missense	4720	exon9			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.806G>A	1.37:g.161180119G>A	ENSP00000356972:p.Arg269Gln	1814	159446743	NM_004550	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163577	0.57476	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.87966	-2.32;-2.32;-2.32	5.29	3.23	0.37069	NADH-quinone oxidoreductase, subunit D (1);	0.491311	0.21033	N	0.081316	T	0.68339	0.2990	L	0.38175	1.15	0.37233	D	0.905767	B;B;B;B	0.13145	0.007;0.002;0.002;0.002	B;B;B;B	0.19946	0.027;0.005;0.002;0.003	T	0.61352	-0.7080	9	0.62326	D	0.03	.	7.3489	0.26678	0.2864:0.0:0.7136:0.0	.	218;171;269;269	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	Q	269;269;171	ENSP00000356972:R269Q;ENSP00000376018:R269Q;ENSP00000446447:R171Q	ENSP00000356972:R269Q	R	+	2	0	NDUFS2	159446743	1.000000	0.71417	0.917000	0.36280	0.975000	0.68041	2.409000	0.44583	0.674000	0.31244	0.655000	0.94253	CGA		0.428	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550	
NR1I3	9970	broad.mit.edu	37	1	161200917	161200917	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161200917G>T	ENST00000367982.4	-	7	968	c.813C>A	c.(811-813)ctC>ctA	p.L271L	NR1I3_ENST00000412844.2_Silent_p.L242L|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000506209.1_Silent_p.L238L|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367979.2_Silent_p.L271L|NR1I3_ENST00000367980.2_Silent_p.L271L|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367983.4_Silent_p.L267L|NR1I3_ENST00000367981.3_Silent_p.L238L|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000437437.2_Silent_p.L238L|NR1I3_ENST00000428574.2_Silent_p.L267L|NR1I3_ENST00000442691.2_Silent_p.L271L|NR1I3_ENST00000515621.1_Silent_p.L192L|NR1I3_ENST00000511676.1_Silent_p.L238L|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Silent_p.L238L			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	271					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L267L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGAGAGAAGAGGGCCATGG	0.537																																					p.L271L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813A	1						.						50.0	52.0	51.0					1																	161200917		2203	4300	6503	159467541	SO:0001819	synonymous_variant	9970	exon7			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.813C>A	1.37:g.161200917G>T			159467541	NM_001077482	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Silent	SNP	ENST00000367982.4	37	CCDS41430.1																																																																																				0.537	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
NR1I3	9970	broad.mit.edu	37	1	161206282	161206282	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161206282G>A	ENST00000367982.4	-	2	229	c.74C>T	c.(73-75)gCg>gTg	p.A25V	NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.A25V|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.A25V|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.A25V|NR1I3_ENST00000367980.2_Missense_Mutation_p.A25V|NR1I3_ENST00000511944.1_Missense_Mutation_p.A25V|NR1I3_ENST00000502985.1_Missense_Mutation_p.A25V|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367985.3_Missense_Mutation_p.A25V|NR1I3_ENST00000367983.4_Missense_Mutation_p.A25V|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.A25V|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.A25V|NR1I3_ENST00000442691.2_Missense_Mutation_p.A25V|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	25					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A25V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAAGTCAGCGCATTAAAGTG	0.532																																					p.A25V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C74T	1						.						182.0	163.0	169.0					1																	161206282		2203	4300	6503	159472906	SO:0001583	missense	9970	exon2			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.74C>T	1.37:g.161206282G>A	ENSP00000356961:p.Ala25Val		159472906	NM_001077482	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807780	0.50421	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000442691;ENST00000428574;ENST00000505005;ENST00000367982;ENST00000502985;ENST00000511944;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.44	5.44	0.79542	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.153402	0.56097	D	0.000021	D	0.91613	0.7350	N	0.11724	0.165	0.42474	D	0.992833	D;D;D;D;P;D;D;D;P;D	0.89917	0.999;0.97;0.993;0.987;0.951;0.986;1.0;0.982;0.741;1.0	D;P;P;D;P;P;D;P;B;D	0.91635	0.954;0.784;0.62;0.924;0.692;0.895;0.999;0.631;0.416;0.998	D	0.87326	0.2321	9	0.06099	T	0.92	.	10.0637	0.42290	0.0885:0.0:0.9115:0.0	.	25;25;25;25;25;25;25;25;25;25	B7Z8R7;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q6GZ72;Q4U0F0;E9PB75	.;.;.;.;.;NR1I3_HUMAN;.;.;.;.	V	25	ENSP00000356962:A25V;ENSP00000356959:A25V;ENSP00000406493:A25V;ENSP00000412672:A25V;ENSP00000424934:A25V;ENSP00000356961:A25V;ENSP00000421374:A25V;ENSP00000426292:A25V;ENSP00000356963:A25V;ENSP00000356965:A25V;ENSP00000356958:A25V;ENSP00000427034:A25V	ENSP00000356958:A25V	A	-	2	0	NR1I3	159472906	1.000000	0.71417	0.993000	0.49108	0.396000	0.30629	3.806000	0.55583	2.837000	0.97791	0.655000	0.94253	GCG		0.532	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
MPZ	4359	broad.mit.edu	37	1	161276520	161276520	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161276520G>A	ENST00000533357.1	-	3	492	c.426C>T	c.(424-426)gtC>gtT	p.V142V	MPZ_ENST00000336559.4_Silent_p.V142V|MPZ_ENST00000360451.6_Silent_p.V152V|MPZ_ENST00000526189.1_Intron|MPZ_ENST00000491222.2_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	142	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V152V(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATACAGCGTGACCTGAGAGG	0.502																																					p.V142V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426T	1						.						203.0	169.0	181.0					1																	161276520		2203	4300	6503	159543144	SO:0001819	synonymous_variant	4359	exon3			BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.426C>T	1.37:g.161276520G>A			159543144	NM_000530	Q16072|Q5VTH4|Q92677|Q9BR67	Silent	SNP	ENST00000533357.1	37	CCDS1229.2																																																																																				0.502	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530	
FBLIM1	54751	broad.mit.edu	37	1	16103737	16103737	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16103737C>T	ENST00000375766.3	+	8	1603	c.963C>T	c.(961-963)atC>atT	p.I321I	FBLIM1_ENST00000400773.1_Silent_p.I224I|FBLIM1_ENST00000509138.1_3'UTR|FBLIM1_ENST00000332305.5_Silent_p.I224I|FBLIM1_ENST00000375771.1_Silent_p.I321I	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	321	FERMT2-binding.|LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.I321I(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCTTCAAAATCGAATGCATGG	0.488																																					p.I321I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963T	1						.						114.0	113.0	114.0					1																	16103737		2203	4300	6503	15976324	SO:0001819	synonymous_variant	54751	exon8				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.963C>T	1.37:g.16103737C>T			15976324	NM_017556	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	ENST00000375766.3	37	CCDS163.1																																																																																				0.488	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215	
FCGR2A	2212	broad.mit.edu	37	1	161479827	161479827	+	Silent	SNP	G	G	A	rs79273228		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161479827G>A	ENST00000271450.6	+	4	620	c.582G>A	c.(580-582)acG>acA	p.T194T	FCGR2A_ENST00000367972.4_Silent_p.T193T	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	194	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T193T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGGCTACACGCTGTTCTCAT	0.522																																					p.T194T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G582A	1						.						113.0	96.0	102.0					1																	161479827		2203	4300	6503	159746451	SO:0001819	synonymous_variant	2212	exon4			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.582G>A	1.37:g.161479827G>A			159746451	NM_001136219	Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	CCDS44264.1																																																																																				0.522	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642	
FCGR3A	2214	broad.mit.edu	37	1	161559543	161559543	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161559543G>A	ENST00000540048.1	-	2	94				RP11-25K21.6_ENST00000537821.2_RNA|FCGR2C_ENST00000466542.2_RNA|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2C_ENST00000473530.2_RNA|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAATGACAGCGGGGAGTACAC	0.597																																					p.G109R												.	.	0			c.G325A	1						.						35.0	35.0	35.0					1																	161559543		2151	4133	6284	159826167	SO:0001627	intron_variant	9103	exon3			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+40614C>T	1.37:g.161559543G>A			159826167	NM_201563	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37																																																																																					0.597	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	
FCRLB	127943	broad.mit.edu	37	1	161693282	161693282	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161693282C>T	ENST00000367948.2	+	5	393	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	FCRLB_ENST00000367944.3_Missense_Mutation_p.L53F|FCRLB_ENST00000367946.3_Missense_Mutation_p.L60F|FCRLB_ENST00000367945.1_Missense_Mutation_p.L53F|FCRLB_ENST00000392158.1_Missense_Mutation_p.L60F|FCRLB_ENST00000336830.5_Missense_Mutation_p.L60F			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	60	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.L60F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CATCAGCACTCTCTGGTATTT	0.557																																					p.L60F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	1						.						130.0	124.0	126.0					1																	161693282		2203	4300	6503	159959906	SO:0001583	missense	127943	exon3			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.178C>T	1.37:g.161693282C>T	ENSP00000356925:p.Leu60Phe		159959906	NM_001002901	A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224544	0.58668	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.76	3.58	0.41010	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000416	T	0.13072	0.0317	L	0.38175	1.15	0.31341	N	0.683638	D;P;D;P;P	0.89917	0.998;0.859;1.0;0.859;0.747	P;B;D;B;B	0.74674	0.862;0.36;0.984;0.36;0.397	T	0.01814	-1.1268	10	0.62326	D	0.03	.	8.7067	0.34358	0.0:0.8027:0.0:0.1973	.	53;53;60;60;60	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	F	60;60;53;60;53;60	ENSP00000356925:L60F;ENSP00000356923:L60F;ENSP00000356922:L53F;ENSP00000338598:L60F;ENSP00000356921:L53F;ENSP00000375999:L60F	ENSP00000338598:L60F	L	+	1	0	FCRLB	159959906	0.973000	0.33851	0.993000	0.49108	0.995000	0.86356	1.464000	0.35288	1.429000	0.47314	0.655000	0.94253	CTC		0.557	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378	
ATF6	22926	broad.mit.edu	37	1	161753848	161753848	+	Missense_Mutation	SNP	C	C	T	rs150872316		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161753848C>T	ENST00000367942.3	+	4	383	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	106	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R106W(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CTCGTCTCCTCGGTCAGTGGA	0.398																																					p.R106W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	1						.	C	TRP/ARG	0,4406		0,0,2203	160.0	154.0	156.0		316	4.8	1.0	1	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ATF6	NM_007348.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	106/671	161753848	1,13005	2203	4300	6503	160020472	SO:0001583	missense	22926	exon4			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.316C>T	1.37:g.161753848C>T	ENSP00000356919:p.Arg106Trp		160020472	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.32	3.090696	0.55968	0.0	1.16E-4	ENSG00000118217	ENST00000367942	T	0.14766	2.48	5.72	4.79	0.61399	.	0.669254	0.15042	N	0.283801	T	0.05181	0.0138	L	0.29908	0.895	0.22562	N	0.99899	P;D	0.56968	0.926;0.978	B;B	0.40410	0.153;0.328	T	0.17018	-1.0383	9	0.66056	D	0.02	-3.0892	12.6162	0.56578	0.0:0.8337:0.1663:0.0	.	106;107	P18850;Q59H30	ATF6A_HUMAN;.	W	106	ENSP00000356919:R106W	ENSP00000356919:R106W	R	+	1	2	ATF6	160020472	0.366000	0.25014	0.993000	0.49108	0.985000	0.73830	0.854000	0.27791	1.374000	0.46228	0.655000	0.94253	CGG		0.398	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
ATF6	22926	broad.mit.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161928323C>T	ENST00000367942.3	+	16	1959	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	631					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S631L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ATCAAAAGTTCGTCAGTTCCT	0.517																																					p.S631L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1892T	1						.						185.0	144.0	158.0					1																	161928323		2203	4300	6503	160194947	SO:0001583	missense	22926	exon16			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1892C>T	1.37:g.161928323C>T	ENSP00000356919:p.Ser631Leu		160194947	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226069	0.95173	.	.	ENSG00000118217	ENST00000367942	T	0.19806	2.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.71036	2.16	0.47341	D	0.999391	D	0.89917	1.0	D	0.80764	0.994	T	0.25433	-1.0132	9	0.87932	D	0	-9.4663	17.2159	0.86944	0.0:1.0:0.0:0.0	.	631	P18850	ATF6A_HUMAN	L	631	ENSP00000356919:S631L	ENSP00000356919:S631L	S	+	2	0	ATF6	160194947	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.470000	0.73558	2.657000	0.90304	0.650000	0.86243	TCG		0.517	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
OLFML2B	25903	broad.mit.edu	37	1	161953493	161953493	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161953493A>G	ENST00000294794.3	-	8	2648	c.2225T>C	c.(2224-2226)gTc>gCc	p.V742A	OLFML2B_ENST00000367940.2_Missense_Mutation_p.V743A|OLFML2B_ENST00000367938.1_Missense_Mutation_p.V225A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	742	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.V742A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATGGTAAGTGACCTGGTGGCC	0.547																																					p.V742A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2225C	1						.						204.0	180.0	188.0					1																	161953493		2203	4300	6503	160220117	SO:0001583	missense	25903	exon8			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2225T>C	1.37:g.161953493A>G	ENSP00000294794:p.Val742Ala		160220117	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178726	0.78564	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.92647	-3.08;-3.08;-3.08	5.3	5.3	0.74995	Olfactomedin-like (3);	.	.	.	.	D	0.95752	0.8618	M	0.89353	3.025	0.42683	D	0.993550	D;D	0.76494	0.997;0.999	D;D	0.71414	0.973;0.973	D	0.96713	0.9527	8	0.87932	D	0	.	13.4819	0.61340	1.0:0.0:0.0:0.0	.	743;742	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	A	742;743;225	ENSP00000294794:V742A;ENSP00000356917:V743A;ENSP00000356915:V225A	ENSP00000294794:V742A	V	-	2	0	OLFML2B	160220117	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.153000	0.94687	2.116000	0.64780	0.533000	0.62120	GTC		0.547	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
NOS1AP	9722	broad.mit.edu	37	1	162257186	162257186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:162257186C>A	ENST00000361897.5	+	3	632	c.230C>A	c.(229-231)tCa>tAa	p.S77*	NOS1AP_ENST00000530878.1_Nonsense_Mutation_p.S77*	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	77	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.S77*(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ATTATGGTTTCAGTGGATGGA	0.413																																					p.S77X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C230A	1						.						143.0	140.0	141.0					1																	162257186		2203	4300	6503	160523810	SO:0001587	stop_gained	9722	exon3			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.230C>A	1.37:g.162257186C>A	ENSP00000355133:p.Ser77*		160523810	NM_001164757	B7ZLF5|O43564|Q3T551|Q5VU95	Nonsense_Mutation	SNP	ENST00000361897.5	37	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	C	40	8.245702	0.98724	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1378	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000355133:S77X	S	+	2	0	NOS1AP	160523810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.546000	0.73887	2.460000	0.83146	0.655000	0.94253	TCA		0.413	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
UHMK1	127933	broad.mit.edu	37	1	162469778	162469778	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:162469778C>A	ENST00000489294.1	+	2	460	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	UHMK1_ENST00000545294.1_Missense_Mutation_p.S27Y|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.S101Y	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)	p.S101Y(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATCCACTTTTCTCCAAATGTG	0.383																																					p.S101Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C302A	1						.						197.0	180.0	185.0					1																	162469778		2203	4300	6503	160736402	SO:0001583	missense	127933	exon2			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.302C>A	1.37:g.162469778C>A	ENSP00000420270:p.Ser101Tyr		160736402	NM_175866	A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	ENST00000489294.1	37	CCDS1239.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689306	0.68271	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.66099	-0.19;2.01;2.01	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184155	0.49305	D	0.000155	T	0.44644	0.1303	L	0.29908	0.895	.	.	.	P;P;P	0.49447	0.804;0.837;0.924	B;B;P	0.44772	0.26;0.377;0.46	T	0.48917	-0.8992	9	0.42905	T	0.14	-4.0587	16.4617	0.84056	0.0:1.0:0.0:0.0	.	101;101;27	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	Y	27;101;101	ENSP00000441226:S27Y;ENSP00000446416:S101Y;ENSP00000420270:S101Y	ENSP00000420270:S101Y	S	+	2	0	UHMK1	160736402	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.834000	0.55798	2.739000	0.93911	0.655000	0.94253	TCT		0.383	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076788.1	NM_175866	
SPEN	23013	broad.mit.edu	37	1	16255966	16255966	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16255966C>T	ENST00000375759.3	+	11	3435	c.3231C>T	c.(3229-3231)ggC>ggT	p.G1077G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1077					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.G1077G(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGGGTCTGGCTCAAGGCCCA	0.438																																					p.G1077G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3231T	1						.						44.0	47.0	46.0					1																	16255966		2203	4300	6503	16128553	SO:0001819	synonymous_variant	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3231C>T	1.37:g.16255966C>T			16128553	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16256061	16256061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16256061C>A	ENST00000375759.3	+	11	3530	c.3326C>A	c.(3325-3327)tCa>tAa	p.S1109*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1109					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.S1109*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCATTCCCTCAAAACCACAG	0.453																																					p.S1109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3326A	1						.						40.0	42.0	42.0					1																	16256061		2203	4300	6503	16128648	SO:0001587	stop_gained	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3326C>A	1.37:g.16256061C>A	ENSP00000364912:p.Ser1109*		16128648	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	38	6.655620	0.97739	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.39	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6168	3.5535	0.07855	0.0:0.3806:0.1916:0.4278	.	.	.	.	X	1109	.	ENSP00000364912:S1109X	S	+	2	0	SPEN	16128648	0.001000	0.12720	0.277000	0.24703	0.625000	0.37756	0.956000	0.29202	0.849000	0.35215	0.650000	0.86243	TCA		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16256750	16256750	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16256750C>A	ENST00000375759.3	+	11	4219	c.4015C>A	c.(4015-4017)Cgt>Agt	p.R1339S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1339					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R1339S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAACTAAATCGTTGGGACTC	0.378																																					p.R1339S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4015A	1						.						44.0	46.0	45.0					1																	16256750		2203	4300	6503	16129337	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4015C>A	1.37:g.16256750C>A	ENSP00000364912:p.Arg1339Ser		16129337	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	4.489	0.090683	0.08632	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.02	5.02	0.67125	.	.	.	.	.	T	0.12178	0.0296	L	0.29908	0.895	0.23841	N	0.996694	D	0.54207	0.965	P	0.49853	0.624	T	0.15607	-1.0431	9	0.13470	T	0.59	-7.8283	12.7927	0.57543	0.2634:0.7366:0.0:0.0	.	1339	Q96T58	MINT_HUMAN	S	1339	ENSP00000364912:R1339S	ENSP00000364912:R1339S	R	+	1	0	SPEN	16129337	0.571000	0.26659	0.740000	0.30986	0.740000	0.42216	1.172000	0.31908	2.626000	0.88956	0.557000	0.71058	CGT		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16257924	16257924	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16257924A>C	ENST00000375759.3	+	11	5393	c.5189A>C	c.(5188-5190)tAt>tCt	p.Y1730S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1730					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.Y1730S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCCGCCTTATCTGGATGCC	0.572																																					p.Y1730S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5189C	1						.						144.0	157.0	153.0					1																	16257924		2203	4300	6503	16130511	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5189A>C	1.37:g.16257924A>C	ENSP00000364912:p.Tyr1730Ser		16130511	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429675	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.08193	3.12	5.1	-6.14	0.02111	.	.	.	.	.	T	0.02888	0.0086	L	0.29908	0.895	0.09310	N	1	P	0.35433	0.501	B	0.24541	0.054	T	0.44787	-0.9305	9	0.06365	T	0.9	0.5139	2.1015	0.03681	0.3017:0.3818:0.0924:0.2242	.	1730	Q96T58	MINT_HUMAN	S	1730	ENSP00000364912:Y1730S	ENSP00000364912:Y1730S	Y	+	2	0	SPEN	16130511	0.000000	0.05858	0.000000	0.03702	0.830000	0.47004	-0.263000	0.08670	-1.564000	0.01678	0.383000	0.25322	TAT		0.572	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
DDR2	4921	broad.mit.edu	37	1	162724618	162724618	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:162724618C>T	ENST00000367922.3	+	6	828	c.390C>T	c.(388-390)atC>atT	p.I130I	DDR2_ENST00000367921.3_Silent_p.I130I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	130	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I130I(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTCGCTGGATCTCTTGGCGGA	0.532																																					p.I130I	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C390T	1						.						91.0	74.0	79.0					1																	162724618		2203	4300	6503	160991242	SO:0001819	synonymous_variant	4921	exon6			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.390C>T	1.37:g.162724618C>T			160991242	NM_001014796	Q7Z730	Silent	SNP	ENST00000367922.3	37	CCDS1241.1																																																																																				0.532	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
SPEN	23013	broad.mit.edu	37	1	16258302	16258302	+	Missense_Mutation	SNP	A	A	C	rs113470169	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16258302A>C	ENST00000375759.3	+	11	5771	c.5567A>C	c.(5566-5568)aAt>aCt	p.N1856T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1856					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.N1856T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGCGGTCCAATTCTCCTCGG	0.493																																					p.N1856T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5567C	1						.						64.0	67.0	66.0					1																	16258302		2203	4300	6503	16130889	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5567A>C	1.37:g.16258302A>C	ENSP00000364912:p.Asn1856Thr		16130889	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	8.391	0.839783	0.16891	.	.	ENSG00000065526	ENST00000375759	T	0.07327	3.2	5.27	-3.28	0.05033	.	.	.	.	.	T	0.02970	0.0088	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48317	-0.9046	9	0.15952	T	0.53	-1.7016	8.3367	0.32219	0.1859:0.1882:0.6259:0.0	.	1856	Q96T58	MINT_HUMAN	T	1856	ENSP00000364912:N1856T	ENSP00000364912:N1856T	N	+	2	0	SPEN	16130889	0.000000	0.05858	0.672000	0.29872	0.986000	0.74619	-0.347000	0.07750	-0.426000	0.07360	-0.621000	0.04028	AAT		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16258934	16258934	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16258934C>A	ENST00000375759.3	+	11	6403	c.6199C>A	c.(6199-6201)Ccg>Acg	p.P2067T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2067					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P2067T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGAAAAAACCGGCCCCTGA	0.473																																					p.P2067T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6199A	1						.						51.0	61.0	58.0					1																	16258934		2171	4278	6449	16131521	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6199C>A	1.37:g.16258934C>A	ENSP00000364912:p.Pro2067Thr		16131521	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	0.292	-0.979466	0.02197	.	.	ENSG00000065526	ENST00000375759	T	0.08282	3.11	4.79	-3.53	0.04667	.	.	.	.	.	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36335	-0.9752	9	0.38643	T	0.18	0.2818	9.9417	0.41585	0.3702:0.4519:0.1778:0.0	.	2067	Q96T58	MINT_HUMAN	T	2067	ENSP00000364912:P2067T	ENSP00000364912:P2067T	P	+	1	0	SPEN	16131521	0.000000	0.05858	0.300000	0.25030	0.090000	0.18270	-0.513000	0.06305	-0.590000	0.05866	0.462000	0.41574	CCG		0.473	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16259073	16259073	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16259073A>G	ENST00000375759.3	+	11	6542	c.6338A>G	c.(6337-6339)gAa>gGa	p.E2113G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2113					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E2113G(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGGGAGAGGGAATCTGGGGTG	0.522																																					p.E2113G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6338G	1						.						81.0	91.0	88.0					1																	16259073		2203	4300	6503	16131660	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6338A>G	1.37:g.16259073A>G	ENSP00000364912:p.Glu2113Gly		16131660	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	3.268	-0.149710	0.06585	.	.	ENSG00000065526	ENST00000375759	T	0.10860	2.83	5.16	4.02	0.46733	.	.	.	.	.	T	0.11836	0.0288	M	0.64997	1.995	0.34127	D	0.66482	P	0.35077	0.483	B	0.24974	0.057	T	0.10917	-1.0609	9	0.45353	T	0.12	-20.1733	12.298	0.54859	0.8585:0.1415:0.0:0.0	.	2113	Q96T58	MINT_HUMAN	G	2113	ENSP00000364912:E2113G	ENSP00000364912:E2113G	E	+	2	0	SPEN	16131660	0.993000	0.37304	0.107000	0.21349	0.153000	0.21895	3.280000	0.51677	0.793000	0.33875	0.379000	0.24179	GAA		0.522	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16265285	16265285	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16265285G>A	ENST00000375759.3	+	14	10981	c.10777G>A	c.(10777-10779)Gag>Aag	p.E3593K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3593	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.E3593K(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCCAGACCGAGTCCCTCAA	0.597																																					p.E3593K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10777A	1						.						115.0	87.0	96.0					1																	16265285		2203	4300	6503	16137872	SO:0001583	missense	23013	exon14				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10777G>A	1.37:g.16265285G>A	ENSP00000364912:p.Glu3593Lys		16137872	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143957	0.57044	.	.	ENSG00000065526	ENST00000375759	T	0.08370	3.1	5.62	4.71	0.59529	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.51012	D	0.999908	P	0.47841	0.901	P	0.46543	0.52	T	0.47598	-0.9105	9	0.37606	T	0.19	-24.3207	14.5815	0.68295	0.0703:0.0:0.9296:0.0	.	3593	Q96T58	MINT_HUMAN	K	3593	ENSP00000364912:E3593K	ENSP00000364912:E3593K	E	+	1	0	SPEN	16137872	1.000000	0.71417	0.896000	0.35187	0.991000	0.79684	6.887000	0.75616	1.373000	0.46208	0.655000	0.94253	GAG		0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
RGS4	5999	broad.mit.edu	37	1	163038728	163038728	+	5'Flank	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163038728T>C	ENST00000367909.6	+	0	0				RGS4_ENST00000367908.4_5'Flank|RGS4_ENST00000421743.2_Missense_Mutation_p.Y2H|RGS4_ENST00000531057.1_5'Flank|RGS4_ENST00000527809.1_5'Flank	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.Y2H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGACCATGTATAATATGAT	0.458																																					p.Y2H	Ovarian(76;1257 1738 3039 6086)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4C	1						.						62.0	63.0	63.0					1																	163038728		1967	4164	6131	161305352	SO:0001631	upstream_gene_variant	5999	exon1			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417		1.37:g.163038728T>C	Exception_encountered		161305352	NM_001102445	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477958	0.26511	.	.	ENSG00000117152	ENST00000421743	T	0.58940	0.3	4.2	-2.68	0.06041	.	.	.	.	.	T	0.10208	0.0250	N	0.08118	0	0.30974	N	0.7227589999999999	B	0.33637	0.42	B	0.23716	0.048	T	0.14200	-1.0481	8	0.87932	D	0	.	0.8476	0.01165	0.1672:0.3057:0.1714:0.3558	.	2	A7XA59	.	H	2	ENSP00000397181:Y2H	ENSP00000397181:Y2H	Y	+	1	0	RGS4	161305352	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-1.107000	0.03316	-0.630000	0.05567	0.460000	0.39030	TAT		0.458	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613	
RGS5	8490	broad.mit.edu	37	1	163138119	163138119	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163138119C>A	ENST00000313961.5	-	2	361	c.84G>T	c.(82-84)caG>caT	p.Q28H	RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Missense_Mutation_p.Q28H|RGS5_ENST00000367903.3_Missense_Mutation_p.Q48H|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_5'UTR	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	28					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q28H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AGTCTGGCTTCTGGAGGAGAA	0.448																																					p.Q28H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G84T	1						.						203.0	194.0	197.0					1																	163138119		2203	4300	6503	161404743	SO:0001583	missense	8490	exon2			AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.84G>T	1.37:g.163138119C>A	ENSP00000319308:p.Gln28His		161404743	NM_003617	E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195372	0.58126	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507	T;T;T	0.56941	0.52;0.43;0.52	5.79	4.88	0.63580	.	0.113910	0.64402	D	0.000009	T	0.31765	0.0807	M	0.64630	1.985	0.44366	D	0.997261	B	0.27679	0.185	B	0.26310	0.068	T	0.20140	-1.0284	9	0.22706	T	0.39	.	12.6809	0.56922	0.0:0.9202:0.0:0.0798	.	28	O15539	RGS5_HUMAN	H	28;48;28	ENSP00000319308:Q28H;ENSP00000356879:Q48H;ENSP00000433001:Q28H	ENSP00000319308:Q28H	Q	-	3	2	RGS5	161404743	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.866000	0.48420	1.455000	0.47813	0.557000	0.71058	CAG		0.448	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617	
NUF2	83540	broad.mit.edu	37	1	163295940	163295940	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163295940G>T	ENST00000271452.3	+	2	378	c.99G>T	c.(97-99)aaG>aaT	p.K33N	NUF2_ENST00000524800.1_Missense_Mutation_p.K33N|NUF2_ENST00000367900.3_Missense_Mutation_p.K33N|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	33	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.K33N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ACCTCACCAAGAATGATCTTT	0.368																																					p.K33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	1						.						116.0	116.0	116.0					1																	163295940		2203	4300	6503	161562564	SO:0001583	missense	83540	exon2			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.99G>T	1.37:g.163295940G>T	ENSP00000271452:p.Lys33Asn		161562564	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608752	0.66558	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.35236	1.37;1.32;1.32	5.68	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.63843	1.955	0.50632	D	0.999888	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.998	T	0.28522	-1.0041	9	0.25751	T	0.34	-29.2521	8.2218	0.31545	0.2438:0.0:0.7562:0.0	.	33;33;33	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	N	33	ENSP00000436888:K33N;ENSP00000356875:K33N;ENSP00000271452:K33N	ENSP00000271452:K33N	K	+	3	2	NUF2	161562564	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	1.739000	0.38217	0.891000	0.36235	0.650000	0.86243	AAG		0.368	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
NUF2	83540	broad.mit.edu	37	1	163313567	163313567	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163313567G>T	ENST00000271452.3	+	10	993	c.714G>T	c.(712-714)gaG>gaT	p.E238D	NUF2_ENST00000524800.1_Missense_Mutation_p.E238D|NUF2_ENST00000367900.3_Missense_Mutation_p.E238D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	238	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E238D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATACAAGAGAGTTTGAAAA	0.289																																					p.E238D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G714T	1						.						24.0	27.0	26.0					1																	163313567		2139	4264	6403	161580191	SO:0001583	missense	83540	exon10			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.714G>T	1.37:g.163313567G>T	ENSP00000271452:p.Glu238Asp		161580191	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	9.585	1.124502	0.20959	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.33865	1.4;1.39;1.39	4.83	-1.03	0.10102	.	0.481398	0.24499	N	0.037997	T	0.03959	0.0111	N	0.08118	0	0.34727	D	0.729342	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.35724	-0.9777	9	0.20046	T	0.44	-5.3096	2.3635	0.04313	0.2699:0.419:0.2:0.111	.	238;238	E9PQC4;Q9BZD4	.;NUF2_HUMAN	D	238	ENSP00000436888:E238D;ENSP00000356875:E238D;ENSP00000271452:E238D	ENSP00000271452:E238D	E	+	3	2	NUF2	161580191	0.926000	0.31397	0.841000	0.33234	0.957000	0.61999	-0.016000	0.12613	-0.273000	0.09246	0.585000	0.79938	GAG		0.289	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
NUF2	83540	broad.mit.edu	37	1	163315501	163315501	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163315501G>T	ENST00000271452.3	+	11	1120	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.D281Y	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	281	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.D281Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AATCTATGGAGACTCAGTTGA	0.358																																					p.D281Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841T	1						.						110.0	108.0	109.0					1																	163315501		2203	4300	6503	161582125	SO:0001583	missense	83540	exon11			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.841G>T	1.37:g.163315501G>T	ENSP00000271452:p.Asp281Tyr		161582125	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056790	0.55325	.	.	ENSG00000143228	ENST00000367900;ENST00000271452	T;T	0.34275	1.37;1.37	4.88	4.88	0.63580	.	0.138617	0.64402	D	0.000004	T	0.46464	0.1394	L	0.56769	1.78	0.46927	D	0.999251	D	0.89917	1.0	D	0.91635	0.999	T	0.47315	-0.9127	9	0.54805	T	0.06	-21.8775	13.4109	0.60942	0.0:0.0:1.0:0.0	.	281	Q9BZD4	NUF2_HUMAN	Y	281	ENSP00000356875:D281Y;ENSP00000271452:D281Y	ENSP00000271452:D281Y	D	+	1	0	NUF2	161582125	1.000000	0.71417	0.987000	0.45799	0.508000	0.34012	5.239000	0.65371	2.518000	0.84900	0.591000	0.81541	GAC		0.358	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
CDK11A	728642	broad.mit.edu	37	1	1636056	1636056	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:1636056G>A	ENST00000378633.1	-	14	1585	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000357760.2_Silent_p.I498I|CDK11A_ENST00000404249.3_Silent_p.I499I|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Silent_p.I489I|CDK11A_ENST00000378638.2_Silent_p.I465I|CDK11A_ENST00000356200.3_Silent_p.I465I			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I498I(1)|p.I514I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AGTTCATCACGATGTAGATCT	0.632																																					p.I499I	Pancreas(186;965 2119 30274 40311 50569)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1497T	1						.																																			1625916	SO:0001819	synonymous_variant	728642	exon14			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1506C>T	1.37:g.1636056G>A			1625916	NM_024011	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37																																																																																					0.632	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
NUF2	83540	broad.mit.edu	37	1	163317623	163317623	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:163317623C>T	ENST00000271452.3	+	12	1298	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	NUF2_ENST00000524800.1_Missense_Mutation_p.S293L|NUF2_ENST00000367900.3_Missense_Mutation_p.S340L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	340	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.S340L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAGAAAATTCGTTCAAAAGA	0.338																																					p.S340L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1019T	1						.						80.0	82.0	81.0					1																	163317623		2203	4300	6503	161584247	SO:0001583	missense	83540	exon12			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1019C>T	1.37:g.163317623C>T	ENSP00000271452:p.Ser340Leu		161584247	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201709	0.79015	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.33438	1.41;1.52;1.52	6.03	5.11	0.69529	.	0.200321	0.45606	N	0.000343	T	0.21590	0.0520	L	0.51422	1.61	0.34261	D	0.679949	D;D	0.63046	0.992;0.992	P;P	0.48063	0.565;0.565	T	0.02144	-1.1206	9	0.27082	T	0.32	-6.7455	12.874	0.57980	0.0:0.9225:0.0:0.0775	.	293;340	E9PQC4;Q9BZD4	.;NUF2_HUMAN	L	293;340;340	ENSP00000436888:S293L;ENSP00000356875:S340L;ENSP00000271452:S340L	ENSP00000271452:S340L	S	+	2	0	NUF2	161584247	0.907000	0.30839	0.866000	0.34008	0.995000	0.86356	1.953000	0.40352	2.854000	0.98071	0.655000	0.94253	TCG		0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
FBXO42	54455	broad.mit.edu	37	1	16577169	16577169	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16577169C>A	ENST00000375592.3	-	10	2366	c.2150G>T	c.(2149-2151)aGa>aTa	p.R717I		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	717								p.R717I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AACACATTATCTCTTTGCTCG	0.388																																					p.R717I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150T	1						.						124.0	121.0	122.0					1																	16577169		2203	4300	6503	16449756	SO:0001583	missense	54455	exon10			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.2150G>T	1.37:g.16577169C>A	ENSP00000364742:p.Arg717Ile		16449756	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244333	0.79912	.	.	ENSG00000037637	ENST00000375592	T	0.10960	2.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.28106	-1.0054	10	0.87932	D	0	.	18.7865	0.91957	0.0:1.0:0.0:0.0	.	717	Q6P3S6	FBX42_HUMAN	I	717	ENSP00000364742:R717I	ENSP00000364742:R717I	R	-	2	0	FBXO42	16449756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.587000	0.82613	2.767000	0.95098	0.655000	0.94253	AGA		0.388	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
RXRG	6258	broad.mit.edu	37	1	165379964	165379964	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:165379964C>A	ENST00000359842.5	-	6	1190	c.888G>T	c.(886-888)gaG>gaT	p.E296D	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	296	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E296D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGACCTGGTCCTCCAAGGTGA	0.473																																					p.E296D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	1						.						88.0	80.0	83.0					1																	165379964		2203	4300	6503	163646588	SO:0001583	missense	6258	exon6			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.888G>T	1.37:g.165379964C>A	ENSP00000352900:p.Glu296Asp		163646588	NM_006917	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	3.015	-0.203017	0.06219	.	.	ENSG00000143171	ENST00000359842	T	0.70164	-0.46	5.1	0.951	0.19579	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.049918	0.85682	D	0.000000	T	0.17109	0.0411	N	0.12746	0.255	0.45704	D	0.998611	B	0.11235	0.004	B	0.14023	0.01	T	0.18147	-1.0346	9	0.02654	T	1	.	8.1327	0.31037	0.0:0.5527:0.0:0.4473	.	296	P48443	RXRG_HUMAN	D	296	ENSP00000352900:E296D	ENSP00000352900:E296D	E	-	3	2	RXRG	163646588	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	0.358000	0.20216	0.336000	0.23639	-0.253000	0.11424	GAG		0.473	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
MAEL	84944	broad.mit.edu	37	1	166974588	166974588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:166974588C>T	ENST00000367872.4	+	8	1043	c.799C>T	c.(799-801)Cga>Tga	p.R267*	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Nonsense_Mutation_p.R236*|RNA5SP65_ENST00000363166.1_RNA	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	267					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.R267*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GACTTGGATTCGAAGCCTCCT	0.408																																					p.R267X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C799T	1						.						86.0	91.0	89.0					1																	166974588		2203	4300	6503	165241212	SO:0001587	stop_gained	84944	exon8			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.799C>T	1.37:g.166974588C>T	ENSP00000356846:p.Arg267*		165241212	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Nonsense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675685	0.96764	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	.	.	.	5.66	4.75	0.60458	.	0.391386	0.22093	N	0.064721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.9472	0.35767	0.0:0.8307:0.0:0.1693	.	.	.	.	X	267;236;236	.	ENSP00000356844:R236X	R	+	1	2	MAEL	165241212	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.366000	0.34193	1.388000	0.46506	0.591000	0.81541	CGA		0.408	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
DUSP27	92235	broad.mit.edu	37	1	167097350	167097350	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:167097350C>T	ENST00000361200.2	+	6	3148	c.2982C>T	c.(2980-2982)caC>caT	p.H994H	DUSP27_ENST00000443333.1_Silent_p.H994H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.H994H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	994	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.H994H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCCTACCACGAGGCAAATG	0.517																																					p.H994H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2982T	1						.						84.0	79.0	81.0					1																	167097350		2203	4300	6503	165363974	SO:0001819	synonymous_variant	92235	exon5			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2982C>T	1.37:g.167097350C>T			165363974	NM_001080426	A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	CCDS30932.1																																																																																				0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
RCSD1	92241	broad.mit.edu	37	1	167663470	167663470	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:167663470C>T	ENST00000367854.3	+	5	736	c.405C>T	c.(403-405)agC>agT	p.S135S	RCSD1_ENST00000537350.1_Silent_p.S105S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	135					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.S135S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTAGGCCCAGCGAGGCAGAGG	0.587																																					p.S135S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	1						.						63.0	59.0	60.0					1																	167663470		2203	4300	6503	165930094	SO:0001819	synonymous_variant	92241	exon5			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.405C>T	1.37:g.167663470C>T			165930094	NM_052862	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	ENST00000367854.3	37	CCDS1263.1																																																																																				0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
MPZL1	9019	broad.mit.edu	37	1	167741682	167741682	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:167741682C>T	ENST00000359523.2	+	3	631	c.429C>T	c.(427-429)atC>atT	p.I143I	MPZL1_ENST00000474859.1_Silent_p.I143I|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	143	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.I143I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CTCCTGACATCGTTGTCCAGC	0.398																																					p.I143I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	1						.						118.0	103.0	108.0					1																	167741682		2203	4300	6503	166008306	SO:0001819	synonymous_variant	9019	exon3			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.429C>T	1.37:g.167741682C>T			166008306	NM_024569	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP	ENST00000359523.2	37	CCDS1264.1																																																																																				0.398	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569	
ADCY10	55811	broad.mit.edu	37	1	167787447	167787447	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:167787447G>T	ENST00000367851.4	-	31	4529	c.4345C>A	c.(4345-4347)Ctt>Att	p.L1449I	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1296I|RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000367848.1_Missense_Mutation_p.L1357I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1449					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.L1449I(1)|p.L1449V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTGGCAAAAGATTTTTAGCT	0.373																																					p.L1296I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3886A	1						.						105.0	102.0	103.0					1																	167787447		2203	4300	6503	166054071	SO:0001583	missense	55811	exon28			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4345C>A	1.37:g.167787447G>T	ENSP00000356825:p.Leu1449Ile		166054071	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235709	0.39498	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.37411	1.2;1.21;1.21	5.63	1.62	0.23740	.	0.000000	0.38897	N	0.001535	T	0.40570	0.1122	M	0.69823	2.125	0.28603	N	0.909054	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.36212	-0.9757	8	.	.	.	-12.431	8.3238	0.32145	0.3266:0.0:0.6734:0.0	.	1357;1449	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	I	1296;1449;1357	ENSP00000441992:L1296I;ENSP00000356825:L1449I;ENSP00000356822:L1357I	.	L	-	1	0	ADCY10	166054071	0.310000	0.24527	0.002000	0.10522	0.052000	0.14988	1.155000	0.31700	0.319000	0.23209	0.655000	0.94253	CTT		0.373	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
DCAF6	55827	broad.mit.edu	37	1	167962640	167962640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:167962640G>T	ENST00000312263.6	+	7	1069	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	DCAF6_ENST00000367840.3_Nonsense_Mutation_p.E289*|DCAF6_ENST00000432587.2_Nonsense_Mutation_p.E258*|DCAF6_ENST00000367843.3_Nonsense_Mutation_p.E289*	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	289					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E289*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TACAGCACGAGAACTTAAAAC	0.453																																					p.E258X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G772T	1						.						69.0	69.0	69.0					1																	167962640		2203	4299	6502	166229264	SO:0001587	stop_gained	55827	exon6			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.865G>T	1.37:g.167962640G>T	ENSP00000311949:p.Glu289*		166229264	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Nonsense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257770	0.95368	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	18.051	0.89349	0.0:0.0:1.0:0.0	.	.	.	.	X	289;258;289;289	.	ENSP00000311949:E289X	E	+	1	0	DCAF6	166229264	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.199000	0.77831	2.325000	0.78763	0.454000	0.30748	GAA		0.453	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
DCAF6	55827	broad.mit.edu	37	1	168034954	168034954	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:168034954A>G	ENST00000312263.6	+	16	2497	c.2293A>G	c.(2293-2295)Aac>Gac	p.N765D	DCAF6_ENST00000367840.3_Missense_Mutation_p.N856D|DCAF6_ENST00000432587.2_Missense_Mutation_p.N825D|DCAF6_ENST00000367843.3_Missense_Mutation_p.N785D	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	765					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.N785D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCATGTGGTAAACTGCCTGCA	0.413																																					p.N825D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2473G	1						.						75.0	72.0	73.0					1																	168034954		2203	4300	6503	166301578	SO:0001583	missense	55827	exon18			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2293A>G	1.37:g.168034954A>G	ENSP00000311949:p.Asn765Asp		166301578	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.928512	0.92389	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83986	0.5373	H	0.96889	3.9	0.47862	D	0.999531	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.997;1.0;0.999;0.999;0.998	D	0.89655	0.3872	9	0.87932	D	0	.	15.7437	0.77922	1.0:0.0:0.0:0.0	.	825;438;856;765;785	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	D	785;825;765;856	ENSP00000356817:N785D;ENSP00000396238:N825D;ENSP00000311949:N765D;ENSP00000356814:N856D	ENSP00000311949:N765D	N	+	1	0	DCAF6	166301578	1.000000	0.71417	0.943000	0.38184	0.976000	0.68499	8.740000	0.91579	2.184000	0.69523	0.459000	0.35465	AAC		0.413	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
DCAF6	55827	broad.mit.edu	37	1	168037611	168037611	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:168037611G>A	ENST00000312263.6	+	18	2632	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	DCAF6_ENST00000367840.3_Missense_Mutation_p.E901K|DCAF6_ENST00000432587.2_Missense_Mutation_p.E870K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E830K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	810					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E830K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AACTCGAAACGAACTCATGCT	0.378																																					p.E870K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2608A	1						.						112.0	104.0	107.0					1																	168037611		2203	4300	6503	166304235	SO:0001583	missense	55827	exon20			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2428G>A	1.37:g.168037611G>A	ENSP00000311949:p.Glu810Lys		166304235	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259650	0.80246	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.81908	-1.54;0.23;-1.55;-1.55	5.81	5.81	0.92471	.	0.105207	0.64402	D	0.000005	T	0.76378	0.3979	L	0.61218	1.895	0.45025	D	0.998041	B;P;P;B;B	0.49307	0.358;0.86;0.922;0.15;0.267	B;B;B;B;B	0.39339	0.066;0.297;0.266;0.052;0.132	T	0.77247	-0.2658	9	0.33940	T	0.23	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	870;483;901;810;830	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	K	830;870;810;901	ENSP00000356817:E830K;ENSP00000396238:E870K;ENSP00000311949:E810K;ENSP00000356814:E901K	ENSP00000311949:E810K	E	+	1	0	DCAF6	166304235	1.000000	0.71417	0.909000	0.35828	0.319000	0.28217	9.234000	0.95347	2.746000	0.94184	0.591000	0.81541	GAA		0.378	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
NECAP2	55707	broad.mit.edu	37	1	16774457	16774457	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16774457G>A	ENST00000337132.5	+	3	376	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	NECAP2_ENST00000504551.2_Missense_Mutation_p.R62Q|NECAP2_ENST00000443980.2_Missense_Mutation_p.E96K|NECAP2_ENST00000406746.1_Missense_Mutation_p.E96K|NECAP2_ENST00000457722.2_Missense_Mutation_p.E70K	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	96					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.E96K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGCATCGAAGATGGAAA	0.552																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	1						.						219.0	193.0	202.0					1																	16774457		2203	4300	6503	16647044	SO:0001583	missense	55707	exon3			AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.286G>A	1.37:g.16774457G>A	ENSP00000338746:p.Glu96Lys		16647044	NM_018090	B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	CCDS173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.384306|4.384306	0.82792|0.82792	.|.	.|.	ENSG00000157191|ENSG00000157191	ENST00000337132;ENST00000457722;ENST00000406746;ENST00000263498;ENST00000443980;ENST00000492095|ENST00000504551	T;T;T;T;T|T	0.41758|0.30182	0.99;0.99;0.99;0.99;0.99|1.54	6.17|6.17	5.24|5.24	0.73138|0.73138	.|.	0.042517|.	0.85682|.	D|.	0.000000|.	T|T	0.42877|0.42877	0.1222|0.1222	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.32829|.	0.334;0.376;0.386|.	B;B;B|.	0.23150|.	0.038;0.041;0.044|.	T|T	0.36553|0.36553	-0.9743|-0.9743	10|7	0.27785|0.87932	T|D	0.31|0	-20.0291|-20.0291	15.2654|15.2654	0.73657|0.73657	0.0:0.1408:0.8592:0.0|0.0:0.1408:0.8592:0.0	.|.	70;96;96|.	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3|.	.;.;NECP2_HUMAN|.	K|Q	96;70;96;96;96;96|62	ENSP00000338746:E96K;ENSP00000407091:E70K;ENSP00000383925:E96K;ENSP00000391942:E96K;ENSP00000427620:E96K|ENSP00000424509:R62Q	ENSP00000263498:E96K|ENSP00000424509:R62Q	E|R	+|+	1|2	0|0	NECAP2|NECAP2	16647044|16647044	0.997000|0.997000	0.39634|0.39634	0.980000|0.980000	0.43619|0.43619	0.789000|0.789000	0.44602|0.44602	1.835000|1.835000	0.39181|0.39181	1.578000|1.578000	0.49821|0.49821	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.552	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090	
GPR161	23432	broad.mit.edu	37	1	168065845	168065845	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:168065845C>A	ENST00000367838.1	-	5	1313	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	GPR161_ENST00000367836.1_Nonsense_Mutation_p.E202*|GPR161_ENST00000539777.1_Nonsense_Mutation_p.E256*|GPR161_ENST00000361697.2_Nonsense_Mutation_p.E334*|GPR161_ENST00000546300.1_Nonsense_Mutation_p.E220*|GPR161_ENST00000537209.1_Nonsense_Mutation_p.E354*|GPR161_ENST00000367835.1_Nonsense_Mutation_p.E334*|GPR161_ENST00000271357.5_Nonsense_Mutation_p.E334*	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	334					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.E334*(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCAGTAGTTCTTTGCGAACT	0.552																																					p.E334X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1000T	1						.						84.0	85.0	84.0					1																	168065845		2203	4300	6503	166332469	SO:0001587	stop_gained	23432	exon5			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1000G>T	1.37:g.168065845C>A	ENSP00000356812:p.Glu334*		166332469	NM_153832	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Nonsense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	43	9.923824	0.99297	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.0204	14.2282	0.65873	0.0:0.9275:0.0:0.0725	.	.	.	.	X	334;334;202;334;220;256;354;334	.	ENSP00000271357:E334X	E	-	1	0	GPR161	166332469	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.637000	0.83313	1.500000	0.48636	0.655000	0.94253	GAA		0.552	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
TBX19	9095	broad.mit.edu	37	1	168274276	168274276	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:168274276G>A	ENST00000367821.3	+	6	809	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	253					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G253E(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AATCCAGATGGAGTGTGCACA	0.522																																					p.G253E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G758A	1						.						156.0	142.0	147.0					1																	168274276		2203	4300	6503	166540900	SO:0001583	missense	9095	exon6			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.758G>A	1.37:g.168274276G>A	ENSP00000356795:p.Gly253Glu		166540900	NM_005149	Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.528|9.528	1.110169|1.110169	0.20714|0.20714	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000367821|ENST00000441464	D|.	0.82893|.	-1.66|.	5.62|5.62	4.69|4.69	0.59074|0.59074	.|.	0.687680|.	0.14499|.	N|.	0.315849|.	T|.	0.30135|.	0.0755|.	N|N	0.22421|0.22421	0.69|0.69	.|.	.|.	.|.	P|.	0.37781|.	0.608|.	B|.	0.32624|.	0.149|.	T|.	0.11324|.	-1.0592|.	9|.	0.30078|.	T|.	0.28|.	.|.	11.907|11.907	0.52717|0.52717	0.0:0.3038:0.6962:0.0|0.0:0.3038:0.6962:0.0	.|.	253|.	O60806|.	TBX19_HUMAN|.	E|X	253|85	ENSP00000356795:G253E|.	ENSP00000356795:G253E|.	G|W	+|+	2|3	0|0	TBX19|TBX19	166540900|166540900	0.459000|0.459000	0.25768|0.25768	0.139000|0.139000	0.22197|0.22197	0.039000|0.039000	0.13416|0.13416	4.409000|4.409000	0.59768|0.59768	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.522	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149	
TBX19	9095	broad.mit.edu	37	1	168282180	168282180	+	Silent	SNP	C	C	T	rs370679374		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:168282180C>T	ENST00000367821.3	+	8	1338	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	429					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F429F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CGCATCCCTTCGCGGGCTGGG	0.622																																					p.F429F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1287T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	43.0	45.0	44.0		1287	0.5	0.0	1		44	0,8600		0,0,4300	no	coding-synonymous	TBX19	NM_005149.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		429/449	168282180	1,13005	2203	4300	6503	166548804	SO:0001819	synonymous_variant	9095	exon8			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1287C>T	1.37:g.168282180C>T			166548804	NM_005149	Q52M53	Silent	SNP	ENST00000367821.3	37	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	0.205	-1.041276	0.02013	2.27E-4	0.0	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.53	0.488	0.16848	.	.	.	.	.	T	0.18800	0.0451	.	.	.	.	.	.	.	.	.	.	.	.	T	0.14227	-1.0480	3	.	.	.	.	5.6207	0.17455	0.0:0.5836:0.1325:0.2839	.	.	.	.	C	299;262	.	.	R	+	1	0	TBX19	166548804	0.008000	0.16893	0.025000	0.17156	0.119000	0.20118	-0.193000	0.09573	-0.156000	0.11079	-1.084000	0.02203	CGC		0.622	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149	
NME7	29922	broad.mit.edu	37	1	169292359	169292359	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169292359C>T	ENST00000367811.3	-	3	530	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	NME7_ENST00000472647.1_Missense_Mutation_p.E56K|NME7_ENST00000469474.1_5'UTR|RP4-800F24.1_ENST00000432081.1_RNA	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	92					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.E92K(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TCTTACTTTTCTTTCCTACTG	0.358																																					p.E56K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166A	1						.						70.0	71.0	70.0					1																	169292359		2203	4300	6503	167558983	SO:0001583	missense	29922	exon3			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.274G>A	1.37:g.169292359C>T	ENSP00000356785:p.Glu92Lys		167558983	NM_197972	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196626	0.94960	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.64991	-0.13;-0.13	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.81673	0.4872	M	0.91140	3.18	0.46654	D	0.999144	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.98	D	0.85554	0.1223	9	0.66056	D	0.02	.	18.3471	0.90326	0.0:1.0:0.0:0.0	.	96;92	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	K	56;92	ENSP00000433341:E56K;ENSP00000356785:E92K	ENSP00000356785:E92K	E	-	1	0	NME7	167558983	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.322000	0.65852	2.495000	0.84180	0.655000	0.94253	GAA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
BLZF1	8548	broad.mit.edu	37	1	169347574	169347574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169347574C>T	ENST00000367808.3	+	4	898	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	BLZF1_ENST00000329281.2_Missense_Mutation_p.R159C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	159					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.R159C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CTAGGTAAATCGTGAGTTAAA	0.333																																					p.R159C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475T	1						.						124.0	123.0	123.0					1																	169347574		2203	4300	6503	167614198	SO:0001583	missense	8548	exon4			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.475C>T	1.37:g.169347574C>T	ENSP00000356782:p.Arg159Cys		167614198	NM_003666	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	ENST00000367808.3	37	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849993	0.91277	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	T;T;T	0.13538	2.58;2.58;2.58	5.91	5.91	0.95273	.	0.047245	0.85682	D	0.000000	T	0.22322	0.0538	M	0.66939	2.045	0.50632	D	0.999882	D;D	0.76494	0.999;0.999	P;P	0.52758	0.708;0.708	T	0.00577	-1.1662	9	0.62326	D	0.03	-22.0183	20.2985	0.98592	0.0:1.0:0.0:0.0	.	159;159	A8K6R0;Q9H2G9	.;GO45_HUMAN	C	159	ENSP00000356782:R159C;ENSP00000327541:R159C;ENSP00000404408:R159C	ENSP00000327541:R159C	R	+	1	0	BLZF1	167614198	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.417000	0.66423	2.793000	0.96121	0.655000	0.94253	CGT		0.333	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666	
CCDC181	57821	broad.mit.edu	37	1	169388388	169388388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169388388G>A	ENST00000367806.3	-	4	1230	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	CCDC181_ENST00000367805.3_Nonsense_Mutation_p.R360*|CCDC181_ENST00000545005.1_Nonsense_Mutation_p.R360*|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	360						nucleus (GO:0005634)		p.R360*(1)									TCTATTTTTCGTCGCTCTTCC	0.303																																					p.R360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1078T	1						.						55.0	51.0	53.0					1																	169388388		2203	4299	6502	167655012	SO:0001587	stop_gained	57821	exon4			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1078C>T	1.37:g.169388388G>A	ENSP00000356780:p.Arg360*		167655012	NM_021179	O60780|Q53FD5|Q5TID9|Q8TC48	Nonsense_Mutation	SNP	ENST00000367806.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.129063	0.97310	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	.	.	.	6.16	4.18	0.49190	.	0.363514	0.30210	N	0.010143	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3997	14.8251	0.70104	0.0:0.0:0.4826:0.5173	.	.	.	.	X	360	.	ENSP00000356779:R360X	R	-	1	2	C1orf114	167655012	0.630000	0.27155	0.984000	0.44739	0.994000	0.84299	1.131000	0.31406	0.766000	0.33244	0.650000	0.86243	CGA		0.303	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179	
F5	2153	broad.mit.edu	37	1	169484782	169484782	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169484782G>A	ENST00000367797.3	-	24	6629	c.6428C>T	c.(6427-6429)tCt>tTt	p.S2143F	F5_ENST00000367796.3_Missense_Mutation_p.S2148F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2143	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S2143F(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGAGGACAGAGACTTGCAGCC	0.413																																					p.S2143F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6428T	1						.						176.0	163.0	167.0					1																	169484782		2203	4300	6503	167751406	SO:0001583	missense	2153	exon24			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6428C>T	1.37:g.169484782G>A	ENSP00000356771:p.Ser2143Phe		167751406	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265901	0.59540	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98419	-4.92;-4.92	5.61	4.69	0.59074	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.055341	0.85682	D	0.000000	D	0.98124	0.9381	M	0.64997	1.995	0.43271	D	0.995227	D	0.63046	0.992	P	0.61275	0.886	D	0.98720	1.0708	9	0.87932	D	0	-19.2838	16.1449	0.81559	0.0:0.1341:0.8659:0.0	.	2143	P12259	FA5_HUMAN	F	2143;2148	ENSP00000356771:S2143F;ENSP00000356770:S2148F	ENSP00000356770:S2148F	S	-	2	0	F5	167751406	1.000000	0.71417	0.933000	0.37362	0.839000	0.47603	5.221000	0.65272	1.346000	0.45694	-0.499000	0.04595	TCT		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169509667	169509667	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169509667A>G	ENST00000367797.3	-	13	4862	c.4661T>C	c.(4660-4662)gTt>gCt	p.V1554A	F5_ENST00000367796.3_Missense_Mutation_p.V1559A	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1554	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.V1554A(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCCTAACATCAGTTTT	0.418																																					p.V1554A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4661C	1						.						105.0	99.0	101.0					1																	169509667		2203	4300	6503	167776291	SO:0001583	missense	2153	exon13			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4661T>C	1.37:g.169509667A>G	ENSP00000356771:p.Val1554Ala		167776291	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	3.460	-0.110218	0.06924	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33438	1.41;1.41	5.93	-6.93	0.01638	.	2.039210	0.01392	N	0.013274	T	0.04998	0.0134	N	0.19112	0.55	0.23813	N	0.996778	B	0.18610	0.029	B	0.18263	0.021	T	0.16600	-1.0397	9	0.21540	T	0.41	2.1569	4.8507	0.13535	0.2276:0.2113:0.4654:0.0957	.	1554	P12259	FA5_HUMAN	A	1554;1559	ENSP00000356771:V1554A;ENSP00000356770:V1559A	ENSP00000356770:V1559A	V	-	2	0	F5	167776291	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	0.140000	0.16056	-0.780000	0.04553	-0.353000	0.07706	GTT		0.418	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169521894	169521894	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169521894G>A	ENST00000367797.3	-	8	1398	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y	F5_ENST00000546081.1_Silent_p.Y262Y|F5_ENST00000367796.3_Silent_p.Y399Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	399	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Y399Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACTCATCTTCGTACTGTGTGT	0.353																																					p.Y399Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1197T	1						.						168.0	172.0	171.0					1																	169521894		2203	4300	6503	167788518	SO:0001819	synonymous_variant	2153	exon8			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1197C>T	1.37:g.169521894G>A			167788518	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	CCDS1281.1																																																																																				0.353	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169524516	169524516	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169524516C>T	ENST00000367797.3	-	7	1223	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	F5_ENST00000546081.1_Missense_Mutation_p.R204H|F5_ENST00000367796.3_Missense_Mutation_p.R341H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	341					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.R341H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTCTGCTCACGAGTTATTTT	0.428																																					p.R341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	1						.						135.0	125.0	128.0					1																	169524516		2203	4300	6503	167791140	SO:0001583	missense	2153	exon7			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1022G>A	1.37:g.169524516C>T	ENSP00000356771:p.Arg341His		167791140	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353033	0.41700	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98807	-5.15;-5.15;-5.15	5.69	1.47	0.22746	.	1.246990	0.05314	N	0.525382	D	0.95714	0.8606	M	0.67953	2.075	0.30642	N	0.756336	D	0.55385	0.971	P	0.45232	0.474	D	0.89532	0.3786	9	0.36615	T	0.2	-0.2281	5.0161	0.14337	0.5725:0.2292:0.1121:0.0861	.	341	P12259	FA5_HUMAN	H	341;341;204	ENSP00000356771:R341H;ENSP00000356770:R341H;ENSP00000439664:R204H	ENSP00000356770:R341H	R	-	2	0	F5	167791140	0.000000	0.05858	0.000000	0.03702	0.684000	0.39900	0.248000	0.18198	0.022000	0.15160	-0.195000	0.12781	CGT		0.428	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169526043	169526043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169526043C>A	ENST00000367797.3	-	6	994	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	F5_ENST00000546081.1_Nonsense_Mutation_p.E128*|F5_ENST00000367796.3_Nonsense_Mutation_p.E265*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	265	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.E265*(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAGAATAATTCTGGCCCCGAG	0.483																																					p.E265X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G793T	1						.						110.0	90.0	96.0					1																	169526043		2203	4300	6503	167792667	SO:0001587	stop_gained	2153	exon6			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.793G>T	1.37:g.169526043C>A	ENSP00000356771:p.Glu265*		167792667	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	40	8.257626	0.98729	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.3163	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	265;265;128	.	ENSP00000356770:E265X	E	-	1	0	F5	167792667	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.456000	0.80751	2.890000	0.99128	0.650000	0.86243	GAA		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	broad.mit.edu	37	1	169565302	169565302	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169565302G>A	ENST00000263686.6	-	12	1999	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	SELP_ENST00000367793.2_Silent_p.Y592Y|SELP_ENST00000367786.2_Silent_p.Y592Y|SELP_ENST00000367794.2_Silent_p.Y592Y|SELP_ENST00000367788.2_Silent_p.Y592Y|SELP_ENST00000367792.2_Silent_p.Y470Y|SELP_ENST00000458599.2_Silent_p.Y470Y|SELP_ENST00000367791.2_Silent_p.Y468Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	654	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.Y654Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GATGCCTACAGTACATGGTTC	0.498																																					p.Y654Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962T	1						.						256.0	254.0	255.0					1																	169565302		2203	4300	6503	167831926	SO:0001819	synonymous_variant	6403	exon12			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1962C>T	1.37:g.169565302G>A			167831926	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1																																																																																				0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
NBPF1	55672	broad.mit.edu	37	1	16918427	16918427	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:16918427C>T	ENST00000430580.2	-	7	977	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	30						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCTGTTTGTTCTCTGCCAGCT	0.483																																					p.E30E												.	.	0			c.G90A	1						.						450.0	450.0	450.0					1																	16918427		2203	4299	6502	16791014	SO:0001819	synonymous_variant	55672	exon7			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.90G>A	1.37:g.16918427C>T			16791014	NM_017940	Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
SELP	6403	broad.mit.edu	37	1	169582864	169582864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169582864G>T	ENST00000263686.6	-	4	586	c.549C>A	c.(547-549)tgC>tgA	p.C183*	SELP_ENST00000367793.2_Nonsense_Mutation_p.C183*|SELP_ENST00000367786.2_Nonsense_Mutation_p.C183*|SELP_ENST00000367794.2_Nonsense_Mutation_p.C183*|SELP_ENST00000367788.2_Nonsense_Mutation_p.C183*|SELP_ENST00000367792.2_Nonsense_Mutation_p.C183*|SELP_ENST00000458599.2_Nonsense_Mutation_p.C183*|SELP_ENST00000367791.2_Nonsense_Mutation_p.C183*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	183	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.C183*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGTAACAGGAGCAGGTGTAGT	0.473																																					p.C183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C549A	1						.						135.0	118.0	123.0					1																	169582864		2203	4300	6503	167849488	SO:0001587	stop_gained	6403	exon4			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.549C>A	1.37:g.169582864G>T	ENSP00000263686:p.Cys183*		167849488	NM_003005	Q5R344|Q8IVD1	Nonsense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.952576|5.952576	0.97139|0.97139	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	.|.	.|.	.|.	5.14|5.14	3.26|3.26	0.37387|0.37387	.|.	0.107749|.	0.42420|.	D|.	0.000704|.	.|T	.|0.33904	.|0.0879	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14531	.|-1.0469	.|3	0.02654|.	T|.	1|.	-25.9235|-25.9235	8.5426|8.5426	0.33402|0.33402	0.2422:0.0:0.7578:0.0|0.2422:0.0:0.7578:0.0	.|.	.|.	.|.	.|.	X|I	183;183;182;183;183;183;183;183;183;183;183;183;168|183	.|.	ENSP00000263686:C183X|.	C|L	-|-	3|1	2|0	SELP|SELP	167849488|167849488	0.625000|0.625000	0.27111|0.27111	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.475000|0.475000	0.22164|0.22164	0.849000|0.849000	0.35215|0.35215	0.655000|0.655000	0.94253|0.94253	TGC|CTC		0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
SELL	6402	broad.mit.edu	37	1	169672447	169672447	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169672447T>C	ENST00000236147.4	-	6	1100	c.940A>G	c.(940-942)Acc>Gcc	p.T314A	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	301	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.T301A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TCACAAATGGTTTTCTTCTTC	0.433																																					p.T314A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A940G	1						.						100.0	91.0	94.0					1																	169672447		1894	4122	6016	167939071	SO:0001583	missense	6402	exon6			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.940A>G	1.37:g.169672447T>C	ENSP00000236147:p.Thr314Ala		167939071	NM_000655	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	T	0.661	-0.805692	0.02819	.	.	ENSG00000188404	ENST00000236147	T	0.63255	-0.03	4.59	3.47	0.39725	Complement control module (2);Sushi/SCR/CCP (3);	0.233634	0.29972	N	0.010734	T	0.33000	0.0848	L	0.56199	1.76	0.09310	N	1	B;B	0.18013	0.025;0.018	B;B	0.23419	0.046;0.021	T	0.20974	-1.0259	10	0.22109	T	0.4	-7.7541	8.3131	0.32084	0.0:0.0949:0.0:0.9051	.	314;301	Q8WW79;P14151	.;LYAM1_HUMAN	A	314	ENSP00000236147:T314A	ENSP00000236147:T314A	T	-	1	0	SELL	167939071	0.003000	0.15002	0.020000	0.16555	0.129000	0.20672	0.560000	0.23500	0.906000	0.36621	0.528000	0.53228	ACC		0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655	
SELL	6402	broad.mit.edu	37	1	169677664	169677664	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169677664C>A	ENST00000236147.4	-	3	565	c.405G>T	c.(403-405)aaG>aaT	p.K135N	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	122	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.K122N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CCTTGTTCTTCTTGTTGTTGG	0.478																																					p.K135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G405T	1						.						98.0	97.0	97.0					1																	169677664		2051	4220	6271	167944288	SO:0001583	missense	6402	exon3			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.405G>T	1.37:g.169677664C>A	ENSP00000236147:p.Lys135Asn		167944288	NM_000655	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551268	0.65311	.	.	ENSG00000188404	ENST00000236147	T	0.18174	2.23	5.71	3.51	0.40186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.111838	0.39341	N	0.001397	T	0.22820	0.0551	M	0.64404	1.975	0.40832	D	0.98359	D;D	0.65815	0.995;0.995	D;P	0.63793	0.918;0.891	T	0.01697	-1.1293	10	0.62326	D	0.03	-15.2473	10.3627	0.44003	0.0:0.78:0.0:0.22	.	135;122	Q8WW79;P14151	.;LYAM1_HUMAN	N	135	ENSP00000236147:K135N	ENSP00000236147:K135N	K	-	3	2	SELL	167944288	0.574000	0.26684	0.972000	0.41901	0.906000	0.53458	1.203000	0.32284	1.418000	0.47098	0.650000	0.86243	AAG		0.478	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655	
SELE	6401	broad.mit.edu	37	1	169695870	169695870	+	Missense_Mutation	SNP	G	G	T	rs5355	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169695870G>T	ENST00000333360.7	-	11	1862	c.1723C>A	c.(1723-1725)Ctc>Atc	p.L575I	SELE_ENST00000367781.4_Missense_Mutation_p.L512I|SELE_ENST00000367774.1_Missense_Mutation_p.L449I|SELE_ENST00000367776.1_Missense_Mutation_p.L512I|SELE_ENST00000367777.1_Missense_Mutation_p.L512I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.L512I|SELE_ENST00000367780.4_Missense_Mutation_p.L450I|SELE_ENST00000367775.1_Missense_Mutation_p.L450I|SELE_ENST00000367779.4_Missense_Mutation_p.L449I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	575			L -> F (in dbSNP:rs5355). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:10982036, ECO:0000269|PubMed:8557254, ECO:0000269|Ref.4}.		actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.L575I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AGCCAGAGGAGAAATGGTGCT	0.418																																					p.L575I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1723A	1	GRCh37	CM961269	SELE	M	rs5355	.						85.0	72.0	76.0					1																	169695870		2203	4300	6503	167962494	SO:0001583	missense	6401	exon11			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1723C>A	1.37:g.169695870G>T	ENSP00000331736:p.Leu575Ile		167962494	NM_000450	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	9.973	1.225973	0.22542	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.23147	1.93;1.92;2.02;1.95;1.95;1.92;2.02;1.93;1.95	5.52	4.6	0.57074	.	0.263488	0.20200	N	0.097120	T	0.11836	0.0288	L	0.58669	1.825	0.20703	N	0.999865	B	0.21821	0.061	B	0.21708	0.036	T	0.12863	-1.0531	10	0.31617	T	0.26	-14.6227	11.9311	0.52847	0.0:0.0:0.827:0.173	.	575	P16581	LYAM2_HUMAN	I	512;512;450;449;575;512;450;512;449	ENSP00000356755:L512I;ENSP00000356756:L512I;ENSP00000356754:L450I;ENSP00000356753:L449I;ENSP00000331736:L575I;ENSP00000356751:L512I;ENSP00000356749:L450I;ENSP00000356750:L512I;ENSP00000356748:L449I	ENSP00000331736:L575I	L	-	1	0	SELE	167962494	1.000000	0.71417	0.982000	0.44146	0.103000	0.19146	2.279000	0.43435	1.303000	0.44873	0.650000	0.86243	CTC		0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
METTL18	92342	broad.mit.edu	37	1	169761966	169761966	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169761966G>T	ENST00000310392.4	-	2	1224	c.871C>A	c.(871-873)Ctc>Atc	p.L291I	METTL18_ENST00000303469.2_Missense_Mutation_p.L291I|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000286031.6_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	291						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.L291I(1)		kidney(1)|large_intestine(3)|lung(4)	8						TCTGAGGTGAGAATGAGATCA	0.338																																					p.L291I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C871A	1						.						58.0	60.0	59.0					1																	169761966		2203	4300	6503	168028590	SO:0001583	missense	92342	exon2			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.871C>A	1.37:g.169761966G>T	ENSP00000307975:p.Leu291Ile		168028590	NM_033418	B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766426	0.69878	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.12039	2.72;2.72	6.17	6.17	0.99709	.	0.087235	0.52532	D	0.000076	T	0.25005	0.0607	L	0.56199	1.76	0.48901	D	0.999724	D	0.56746	0.977	D	0.67382	0.951	T	0.00066	-1.2144	10	0.34782	T	0.22	-15.719	19.4432	0.94831	0.0:0.0:1.0:0.0	.	291	O95568	MET18_HUMAN	I	291	ENSP00000307975:L291I;ENSP00000307077:L291I	ENSP00000307077:L291I	L	-	1	0	METTL18	168028590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.198000	0.65147	2.941000	0.99782	0.655000	0.94253	CTC		0.338	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418	
C1orf112	55732	broad.mit.edu	37	1	169771776	169771776	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169771776C>T	ENST00000286031.6	+	4	781	c.81C>T	c.(79-81)ttC>ttT	p.F27F	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.F27F|C1orf112_ENST00000413811.2_5'UTR|C1orf112_ENST00000456684.1_Silent_p.F85F	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	27								p.F27F(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAATTATTCGATGACATGA	0.328																																					p.F27F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T	1						.						61.0	65.0	64.0					1																	169771776		2203	4298	6501	168038400	SO:0001819	synonymous_variant	55732	exon4			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.81C>T	1.37:g.169771776C>T			168038400	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	CCDS1285.1																																																																																				0.328	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
C1orf112	55732	broad.mit.edu	37	1	169773343	169773343	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169773343T>G	ENST00000286031.6	+	6	1140	c.440T>G	c.(439-441)tTa>tGa	p.L147*	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Nonsense_Mutation_p.L147*|C1orf112_ENST00000413811.2_Nonsense_Mutation_p.L118*|C1orf112_ENST00000456684.1_Nonsense_Mutation_p.L205*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	147								p.L147*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGACCCTTTAGTAGATGAC	0.358																																					p.L147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T440G	1						.						133.0	133.0	133.0					1																	169773343		2203	4300	6503	168039967	SO:0001587	stop_gained	55732	exon6			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.440T>G	1.37:g.169773343T>G	ENSP00000286031:p.Leu147*		168039967	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	T	38	6.939392	0.97948	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	.	.	.	4.99	-0.331	0.12679	.	1.209150	0.05479	N	0.554407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	1.1434	5.9663	0.19326	0.0:0.4359:0.1427:0.4214	.	.	.	.	X	118;147;205;147	.	ENSP00000286031:L147X	L	+	2	0	C1orf112	168039967	0.019000	0.18553	0.010000	0.14722	0.688000	0.40055	0.555000	0.23422	-0.168000	0.10853	-1.139000	0.01908	TTA		0.358	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
SCYL3	57147	broad.mit.edu	37	1	169825010	169825010	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169825010G>T	ENST00000367770.1	-	11	1448	c.1401C>A	c.(1399-1401)ttC>ttA	p.F467L	SCYL3_ENST00000367772.4_Missense_Mutation_p.F467L|SCYL3_ENST00000367771.6_Intron			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	467					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.F467L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCAGAAAAGAAACATTTAG	0.403																																					p.F467L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1401A	1						.						90.0	86.0	88.0					1																	169825010		2203	4300	6503	168091634	SO:0001583	missense	57147	exon12			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1401C>A	1.37:g.169825010G>T	ENSP00000356744:p.Phe467Leu		168091634	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345390	0.24426	.	.	ENSG00000000457	ENST00000367772;ENST00000367770	T;T	0.12672	2.66;2.66	3.28	1.31	0.21738	.	2.650200	0.00721	N	0.000884	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.11485	T	0.65	-0.5301	3.8343	0.08888	0.1307:0.0:0.61:0.2593	.	467	Q8IZE3	PACE1_HUMAN	L	467	ENSP00000356746:F467L;ENSP00000356744:F467L	ENSP00000356744:F467L	F	-	3	2	SCYL3	168091634	0.008000	0.16893	0.021000	0.16686	0.810000	0.45777	0.843000	0.27640	0.362000	0.24319	0.557000	0.71058	TTC		0.403	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:169847945G>A	ENST00000367770.1	-	2	228	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_ENST00000367772.4_Missense_Mutation_p.R61C|SCYL3_ENST00000367771.6_Missense_Mutation_p.R61C|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R61C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408																																					p.R61C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C181T	1						.						101.0	101.0	101.0					1																	169847945		2203	4300	6503	168114569	SO:0001583	missense	57147	exon3			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.181C>T	1.37:g.169847945G>A	ENSP00000356744:p.Arg61Cys		168114569	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293913	0.81025	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88840	0.6546	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90729	0.4641	9	.	.	.	-15.4784	19.0922	0.93231	0.0:0.0:1.0:0.0	.	61;61	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	C	61	ENSP00000356746:R61C;ENSP00000356745:R61C;ENSP00000356744:R61C;ENSP00000407993:R61C	.	R	-	1	0	SCYL3	168114569	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	5.630000	0.67805	2.668000	0.90789	0.563000	0.77884	CGT		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
MROH9	80133	broad.mit.edu	37	1	170955788	170955788	+	Silent	SNP	C	C	T	rs374921240		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:170955788C>T	ENST00000367758.3	+	10	915	c.816C>T	c.(814-816)atC>atT	p.I272I	MROH9_ENST00000367759.4_Silent_p.I272I	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	272								p.I272I(1)									ATGATAAAATCGCATCTGATG	0.453																																					p.I272I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	1						.						162.0	147.0	152.0					1																	170955788		1987	4178	6165	169222412	SO:0001819	synonymous_variant	80133	exon10			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.816C>T	1.37:g.170955788C>T			169222412	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																				0.453	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
FMO3	2328	broad.mit.edu	37	1	171076911	171076911	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171076911C>A	ENST00000367755.4	+	4	528	c.417C>A	c.(415-417)gtC>gtA	p.V139V	FMO3_ENST00000392085.2_Silent_p.V139V|FMO3_ENST00000538429.1_Silent_p.V76V|FMO3_ENST00000542847.1_Silent_p.V119V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	139					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.V139V(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AATCGGCTGTCTTTGATGCTG	0.413																																					p.V139V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417A	1						.						149.0	149.0	149.0					1																	171076911		2203	4300	6503	169343535	SO:0001819	synonymous_variant	2328	exon4			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.417C>A	1.37:g.171076911C>A			169343535	NM_001002294	B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	CCDS1292.1																																																																																				0.413	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO3	2328	broad.mit.edu	37	1	171086513	171086513	+	Missense_Mutation	SNP	C	C	A	rs28363595	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171086513C>A	ENST00000367755.4	+	9	1641	c.1530C>A	c.(1528-1530)ttC>ttA	p.F510L	FMO3_ENST00000392085.2_Missense_Mutation_p.F510L|FMO3_ENST00000538429.1_Missense_Mutation_p.F447L|FMO3_ENST00000542847.1_Missense_Mutation_p.F490L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	510					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.F510L(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGCCTTGCTTCTTTTTCCATT	0.468																																					p.F510L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1530A	1						.						162.0	149.0	154.0					1																	171086513		2203	4300	6503	169353137	SO:0001583	missense	2328	exon9			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1530C>A	1.37:g.171086513C>A	ENSP00000356729:p.Phe510Leu		169353137	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	4.809	0.150351	0.09185	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.55	-9.11	0.00711	.	1.099820	0.07088	N	0.838315	T	0.04227	0.0117	N	0.01188	-0.97	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.31336	-0.9947	10	0.11182	T	0.66	0.2722	12.843	0.57813	0.3976:0.4944:0.108:0.0	.	447;490;510	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	L	510;510;490;447	ENSP00000356729:F510L;ENSP00000375935:F510L;ENSP00000444073:F490L;ENSP00000439500:F447L	ENSP00000356729:F510L	F	+	3	2	FMO3	169353137	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.627000	0.00874	-2.996000	0.00278	-1.113000	0.02065	TTC		0.468	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO2	2327	broad.mit.edu	37	1	171174589	171174589	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171174589C>A	ENST00000209929.7	+	7	1157	c.999C>A	c.(997-999)ttC>ttA	p.F333L	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.F333L|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	332					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F333L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATAGTTTCTCTTTTCCCT	0.403																																					p.F333L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C999A	1						.						99.0	97.0	98.0					1																	171174589		2203	4300	6503	169441213	SO:0001583	missense	2327	exon7			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.999C>A	1.37:g.171174589C>A	ENSP00000209929:p.Phe333Leu		169441213	NM_001460	Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801667	0.50315	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.61392	0.11;0.11	5.67	1.03	0.20045	.	0.145939	0.64402	D	0.000006	T	0.41511	0.1162	M	0.64676	1.99	0.09310	N	1	B	0.31290	0.318	B	0.42361	0.385	T	0.46303	-0.9201	10	0.56958	D	0.05	-6.418	8.3692	0.32404	0.0:0.4738:0.0:0.5262	.	333	Q99518	FMO2_HUMAN	L	333	ENSP00000209929:F333L;ENSP00000405905:F333L	ENSP00000209929:F333L	F	+	3	2	FMO2	169441213	0.000000	0.05858	0.771000	0.31576	0.994000	0.84299	-0.115000	0.10741	0.295000	0.22570	0.655000	0.94253	TTC		0.403	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
FMO1	2326	broad.mit.edu	37	1	171236711	171236711	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171236711C>A	ENST00000354841.4	+	2	293	c.162C>A	c.(160-162)ctC>ctA	p.L54L	FMO1_ENST00000402921.2_Intron|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.L54L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	54					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L54L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAGCCAGTCTCTACAAGTCTG	0.433																																					p.L54L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162A	1						.						167.0	147.0	154.0					1																	171236711		2203	4300	6503	169503335	SO:0001819	synonymous_variant	2326	exon3			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.162C>A	1.37:g.171236711C>A			169503335	NM_002021	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	ENST00000354841.4	37	CCDS1294.1																																																																																				0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021	
FMO4	2329	broad.mit.edu	37	1	171288976	171288976	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171288976A>C	ENST00000367749.3	+	3	342	c.12A>C	c.(10-12)aaA>aaC	p.K4N		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	4					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.K4N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGCCAAGAAAGTTGCAGTGA	0.453																																					p.K4N	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12C	1						.						161.0	143.0	149.0					1																	171288976		2203	4300	6503	169555600	SO:0001583	missense	2329	exon3			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.12A>C	1.37:g.171288976A>C	ENSP00000356723:p.Lys4Asn		169555600	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160163	0.38119	.	.	ENSG00000076258	ENST00000367749	T	0.61392	0.11	5.18	1.34	0.21922	.	0.173576	0.52532	D	0.000079	T	0.41880	0.1178	M	0.62209	1.925	0.37195	D	0.904118	B	0.30236	0.274	B	0.43413	0.419	T	0.43278	-0.9401	10	0.62326	D	0.03	-6.5952	3.5686	0.07909	0.5655:0.0:0.1583:0.2762	.	4	P31512	FMO4_HUMAN	N	4	ENSP00000356723:K4N	ENSP00000356723:K4N	K	+	3	2	FMO4	169555600	0.002000	0.14202	0.962000	0.40283	0.915000	0.54546	-0.430000	0.06973	-0.032000	0.13758	0.528000	0.53228	AAA		0.453	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
FMO4	2329	broad.mit.edu	37	1	171293410	171293410	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171293410A>G	ENST00000367749.3	+	5	785	c.455A>G	c.(454-456)aAt>aGt	p.N152S	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	152					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.N152S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATTTCCTGAATCCCCATTTA	0.443																																					p.N152S	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A455G	1						.						487.0	465.0	473.0					1																	171293410		2203	4300	6503	169560034	SO:0001583	missense	2329	exon5			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.455A>G	1.37:g.171293410A>G	ENSP00000356723:p.Asn152Ser		169560034	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.587034	0.28268	.	.	ENSG00000076258	ENST00000367749	T	0.57436	0.4	5.93	-6.01	0.02199	.	0.467195	0.25355	N	0.031261	T	0.09423	0.0232	N	0.20574	0.59	0.20638	N	0.999879	B	0.15719	0.014	B	0.20184	0.028	T	0.38178	-0.9673	10	0.07175	T	0.84	-6.8292	10.1045	0.42524	0.4014:0.1089:0.4897:0.0	.	152	P31512	FMO4_HUMAN	S	152	ENSP00000356723:N152S	ENSP00000356723:N152S	N	+	2	0	FMO4	169560034	0.002000	0.14202	0.023000	0.16930	0.670000	0.39368	1.280000	0.33202	-1.558000	0.01690	-0.250000	0.11733	AAT		0.443	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
FMO4	2329	broad.mit.edu	37	1	171310701	171310701	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171310701C>A	ENST00000367749.3	+	10	1730	c.1400C>A	c.(1399-1401)aCt>aAt	p.T467N		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	467					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.T467N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGACCATGTACTCCTTATCAG	0.493																																					p.T467N	Pancreas(24;816 862 7754 7993 32832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1400A	1						.						119.0	101.0	107.0					1																	171310701		2203	4300	6503	169577325	SO:0001583	missense	2329	exon10			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1400C>A	1.37:g.171310701C>A	ENSP00000356723:p.Thr467Asn		169577325	NM_002022	Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706924	0.48412	.	.	ENSG00000076258	ENST00000367749	T	0.54071	0.59	5.52	3.5	0.40072	.	0.160935	0.56097	D	0.000038	T	0.39759	0.1090	M	0.69185	2.1	0.43246	D	0.99516	P	0.36483	0.555	B	0.37387	0.248	T	0.47459	-0.9116	10	0.46703	T	0.11	-13.7724	14.8735	0.70478	0.0:0.5954:0.4046:0.0	.	467	P31512	FMO4_HUMAN	N	467	ENSP00000356723:T467N	ENSP00000356723:T467N	T	+	2	0	FMO4	169577325	0.892000	0.30473	0.997000	0.53966	0.831000	0.47069	1.966000	0.40481	1.287000	0.44583	0.655000	0.94253	ACT		0.493	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022	
PRRC2C	23215	broad.mit.edu	37	1	171510545	171510545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171510545C>T	ENST00000338920.4	+	16	4171	c.3934C>T	c.(3934-3936)Cga>Tga	p.R1312*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.R1314*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.R1314*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.R1312*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1312					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1314*(1)									TAATCATGTTCGAATAGATAA	0.413																																					p.R1312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3934T	1						.						51.0	52.0	52.0					1																	171510545		2203	4300	6503	169777169	SO:0001587	stop_gained	23215	exon16			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3934C>T	1.37:g.171510545C>T	ENSP00000343629:p.Arg1312*		169777169	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	44	11.132231	0.99520	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.	.	.	5.51	3.58	0.41010	.	0.000000	0.38164	N	0.001793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7063	0.40218	0.2982:0.5727:0.1291:0.0	.	.	.	.	X	1314;1313;1312;1314;1312;1069	.	ENSP00000343629:R1312X	R	+	1	2	PRRC2C	169777169	0.991000	0.36638	1.000000	0.80357	0.933000	0.57130	1.317000	0.33631	0.639000	0.30564	0.563000	0.77884	CGA		0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
MYOC	4653	broad.mit.edu	37	1	171621527	171621527	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171621527C>T	ENST00000037502.6	-	1	296	c.225G>A	c.(223-225)caG>caA	p.Q75Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	75					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.Q75Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTCTCTCTGTAAGTTAT	0.572																																					p.Q75Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G225A	1						.						129.0	101.0	110.0					1																	171621527		2203	4300	6503	169888150	SO:0001819	synonymous_variant	4653	exon1			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.225G>A	1.37:g.171621527C>T			169888150	NM_000261	B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	CCDS1297.1																																																																																				0.572	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261	
VAMP4	8674	broad.mit.edu	37	1	171678834	171678834	+	Nonsense_Mutation	SNP	G	G	A	rs577477919		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171678834G>A	ENST00000236192.7	-	6	702	c.316C>T	c.(316-318)Cga>Tga	p.R106*	VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Nonsense_Mutation_p.R105*|VAMP4_ENST00000367740.2_Nonsense_Mutation_p.R105*	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	106	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)		p.R106*(1)		large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTTGCCTTCGAAGTTGTTTG	0.393																																					p.R105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C313T	1						.						191.0	162.0	172.0					1																	171678834		2203	4300	6503	169945457	SO:0001587	stop_gained	8674	exon6			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.316C>T	1.37:g.171678834G>A	ENSP00000236192:p.Arg106*		169945457	NM_001185127	A2IDD8|Q96IY9|Q96J20|Q9UEL7	Nonsense_Mutation	SNP	ENST00000236192.7	37	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	G	39	7.459897	0.98299	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	.	.	.	5.46	5.46	0.80206	.	0.069919	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9128	0.58189	0.0:0.0:0.8376:0.1624	.	.	.	.	X	106;105;105	.	ENSP00000236192:R106X	R	-	1	2	VAMP4	169945457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.560000	0.67332	2.565000	0.86533	0.650000	0.86243	CGA		0.393	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762	
METTL13	51603	broad.mit.edu	37	1	171753612	171753612	+	Missense_Mutation	SNP	C	C	T	rs202234390		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:171753612C>T	ENST00000361735.3	+	2	1152	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	METTL13_ENST00000458517.1_Missense_Mutation_p.R295W|METTL13_ENST00000362019.3_Missense_Mutation_p.R210W|METTL13_ENST00000367737.5_Intron	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	296							methyltransferase activity (GO:0008168)	p.R296W(2)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GAAACCATCGCGGGACAATCA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15300	0.0		0.001	False		,,,				2504	0.0				p.R210W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C628T	1						.																																			170020235	SO:0001583	missense	51603	exon2			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.886C>T	1.37:g.171753612C>T	ENSP00000354920:p.Arg296Trp		170020235	NM_014955	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	CCDS1299.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	17.83	3.486189	0.63962	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735	T;T;T	0.32023	2.21;1.47;2.21	5.33	0.624	0.17659	.	0.123265	0.52532	D	0.000069	T	0.29355	0.0731	L	0.51422	1.61	0.44275	D	0.997133	D;D	0.89917	0.999;1.0	P;D	0.68483	0.818;0.958	T	0.04320	-1.0960	9	.	.	.	-6.5228	9.767	0.40567	0.324:0.5973:0.0:0.0787	.	295;296	B4E2X3;Q8N6R0	.;MTL13_HUMAN	W	295;210;296	ENSP00000401955:R295W;ENSP00000355393:R210W;ENSP00000354920:R296W	.	R	+	1	2	METTL13	170020235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.267000	0.43329	0.148000	0.19059	-0.136000	0.14681	CGG		0.622	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955	
DNM3	26052	broad.mit.edu	37	1	172011179	172011179	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172011179G>T	ENST00000355305.5	+	8	1180	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	DNM3_ENST00000367731.1_Missense_Mutation_p.E341D|DNM3_ENST00000367733.2_Missense_Mutation_p.E341D|DNM3_ENST00000520906.1_Missense_Mutation_p.E341D|DNM3_ENST00000358155.4_Missense_Mutation_p.E341D			Q9UQ16	DYN3_HUMAN	dynamin 3	341					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E341D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGACTTTGAGAAGAGAATTG	0.383																																					p.E341D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1023T	1						.						146.0	141.0	142.0					1																	172011179		1835	4082	5917	170277802	SO:0001583	missense	26052	exon8			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1023G>T	1.37:g.172011179G>T	ENSP00000347457:p.Glu341Asp		170277802	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	G	13.80	2.344578	0.41498	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.65	4.73	0.59995	.	0.103853	0.64402	D	0.000005	T	0.50616	0.1626	L	0.49640	1.575	0.51767	D	0.999939	B;B;B;B	0.20368	0.004;0.044;0.01;0.009	B;B;B;B	0.18561	0.02;0.019;0.019;0.022	T	0.50849	-0.8779	10	0.22706	T	0.39	.	10.4407	0.44464	0.1587:0.0:0.8413:0.0	.	341;341;341;341	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	D	341;341;341;341;341;341;231	ENSP00000350876:E341D;ENSP00000356707:E341D;ENSP00000347457:E341D;ENSP00000356705:E341D;ENSP00000429701:E341D;ENSP00000429416:E231D	ENSP00000347457:E341D	E	+	3	2	DNM3	170277802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.827000	0.39102	1.383000	0.46405	0.491000	0.48974	GAG		0.383	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
DNM3	26052	broad.mit.edu	37	1	172051028	172051028	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172051028C>A	ENST00000355305.5	+	12	1636	c.1479C>A	c.(1477-1479)ttC>ttA	p.F493L	DNM3_ENST00000367731.1_Missense_Mutation_p.F493L|DNM3_ENST00000367733.2_Missense_Mutation_p.F493L|DNM3_ENST00000520906.1_Missense_Mutation_p.F493L|DNM3_ENST00000358155.4_Missense_Mutation_p.F493L			Q9UQ16	DYN3_HUMAN	dynamin 3	493					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F493L(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGAAGACTTCATTGGCTTCG	0.373																																					p.F493L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1479A	1						.						153.0	145.0	147.0					1																	172051028		1918	4139	6057	170317651	SO:0001583	missense	26052	exon12			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1479C>A	1.37:g.172051028C>A	ENSP00000347457:p.Phe493Leu		170317651	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	25.7	4.669454	0.88348	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.77313	2.365	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.994;0.999;1.0	D;P;D;D	0.97110	1.0;0.858;0.986;1.0	D	0.88849	0.3318	10	0.87932	D	0	.	15.6157	0.76767	0.0:1.0:0.0:0.0	.	493;493;493;493	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	L	493;493;493;493;493;493;383	ENSP00000350876:F493L;ENSP00000356707:F493L;ENSP00000347457:F493L;ENSP00000356705:F493L;ENSP00000429701:F493L;ENSP00000429416:F383L	ENSP00000347457:F493L	F	+	3	2	DNM3	170317651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.199000	0.42715	2.832000	0.97577	0.655000	0.94253	TTC		0.373	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
DNM3	26052	broad.mit.edu	37	1	172061997	172061997	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172061997A>C	ENST00000355305.5	+	13	1684	c.1527A>C	c.(1525-1527)aaA>aaC	p.K509N	DNM3_ENST00000367731.1_Missense_Mutation_p.K509N|DNM3_ENST00000367733.2_Missense_Mutation_p.K509N|DNM3_ENST00000520906.1_Missense_Mutation_p.K509N|DNM3_ENST00000358155.4_Missense_Mutation_p.K509N			Q9UQ16	DYN3_HUMAN	dynamin 3	509					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K509N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCACAAGAAAACCACAGTTG	0.368																																					p.K509N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1527C	1						.						71.0	67.0	68.0					1																	172061997		1859	4085	5944	170328620	SO:0001583	missense	26052	exon13			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1527A>C	1.37:g.172061997A>C	ENSP00000347457:p.Lys509Asn		170328620	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298645	0.40694	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.94232	-3.23;-3.07;-3.27;-3.24;-3.38;-3.05	5.92	3.3	0.37823	.	0.821584	0.11539	N	0.553955	D	0.84570	0.5501	L	0.41236	1.265	0.44214	D	0.997045	B;B;B;B	0.22541	0.003;0.033;0.071;0.003	B;B;B;B	0.26614	0.022;0.071;0.071;0.013	T	0.81406	-0.0947	10	0.54805	T	0.06	.	9.178	0.37123	0.8333:0.0:0.1667:0.0	.	509;509;509;509	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	N	509;509;509;509;509;509;399	ENSP00000350876:K509N;ENSP00000356707:K509N;ENSP00000347457:K509N;ENSP00000356705:K509N;ENSP00000429701:K509N;ENSP00000429416:K399N	ENSP00000347457:K509N	K	+	3	2	DNM3	170328620	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.135000	0.57997	1.077000	0.40990	-0.361000	0.07541	AAA		0.368	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
SUCO	51430	broad.mit.edu	37	1	172558077	172558077	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172558077G>A	ENST00000263688.3	+	18	2055	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Silent_p.E764E|SUCO_ENST00000367723.4_Silent_p.E763E	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	612					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.E612E(1)|p.E764E(1)									TTGAGTCAGAGACACAAATAT	0.413																																					p.E612E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1836A	1						.						103.0	102.0	102.0					1																	172558077		2203	4300	6503	170824700	SO:0001819	synonymous_variant	51430	exon18			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1836G>A	1.37:g.172558077G>A			170824700	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	CCDS1303.1																																																																																				0.413	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SUCO	51430	broad.mit.edu	37	1	172558636	172558636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172558636G>T	ENST00000263688.3	+	18	2614	c.2395G>T	c.(2395-2397)Gtt>Ttt	p.V799F	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.V951F|SUCO_ENST00000367723.4_Missense_Mutation_p.V950F	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	799					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.V799F(1)|p.V951F(1)									AACAAATAAAGTTAATGAGTT	0.333																																					p.V799F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2395T	1						.						32.0	34.0	33.0					1																	172558636		2190	4282	6472	170825259	SO:0001583	missense	51430	exon18			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2395G>T	1.37:g.172558636G>T	ENSP00000263688:p.Val799Phe		170825259	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	0.564	-0.843929	0.02671	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	4.78	0.365	0.16131	.	1.306880	0.05313	N	0.525253	T	0.12347	0.0300	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.23440	-1.0188	9	0.42905	T	0.14	-0.0086	1.448	0.02368	0.2621:0.3478:0.2586:0.1315	.	799;951;799	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	F	951;799	.	ENSP00000263688:V799F	V	+	1	0	C1orf9	170825259	0.000000	0.05858	0.014000	0.15608	0.175000	0.22909	0.068000	0.14531	0.075000	0.16796	-0.140000	0.14226	GTT		0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SUCO	51430	broad.mit.edu	37	1	172558897	172558897	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172558897G>T	ENST00000263688.3	+	18	2875	c.2656G>T	c.(2656-2658)Gat>Tat	p.D886Y	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.D1038Y|SUCO_ENST00000367723.4_Missense_Mutation_p.D1037Y	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	886					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.D1038Y(1)|p.D886Y(1)									GACAGCTACAGATTTTTATGC	0.358																																					p.D886Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2656T	1						.						90.0	93.0	92.0					1																	172558897		2200	4296	6496	170825520	SO:0001583	missense	51430	exon18			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2656G>T	1.37:g.172558897G>T	ENSP00000263688:p.Asp886Tyr		170825520	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089001	0.76756	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.29	5.29	0.74685	.	0.044149	0.85682	D	0.000000	T	0.74966	0.3786	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78137	-0.2321	9	0.87932	D	0	-21.0784	17.492	0.87707	0.0:0.0:1.0:0.0	.	886;1038;886	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Y	1038;886	.	ENSP00000263688:D886Y	D	+	1	0	C1orf9	170825520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.460000	0.83146	0.655000	0.94253	GAT		0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SUCO	51430	broad.mit.edu	37	1	172560200	172560200	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172560200G>T	ENST00000263688.3	+	19	3121	c.2902G>T	c.(2902-2904)Gca>Tca	p.A968S	SUCO_ENST00000610051.1_Missense_Mutation_p.A597S|SUCO_ENST00000608151.1_Missense_Mutation_p.A1120S|SUCO_ENST00000367723.4_Missense_Mutation_p.A1119S	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	968					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.A968S(1)|p.A1120S(1)									TTCAAGAATAGCAGAGGAGCA	0.333																																					p.A968S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2902T	1						.						95.0	97.0	96.0					1																	172560200		2203	4300	6503	170826823	SO:0001583	missense	51430	exon19			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2902G>T	1.37:g.172560200G>T	ENSP00000263688:p.Ala968Ser		170826823	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188111	0.78789	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	T;T	0.40476	1.03;1.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.76494	0.999;0.962;0.994;0.982	D;P;P;P	0.66196	0.942;0.534;0.757;0.773	T	0.59123	-0.7513	10	0.52906	T	0.07	-17.1602	18.1275	0.89590	0.0:0.0:1.0:0.0	.	597;968;1120;968	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	S	1120;968	ENSP00000356696:A1120S;ENSP00000263688:A968S	ENSP00000263688:A968S	A	+	1	0	C1orf9	170826823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.323000	0.96364	2.616000	0.88540	0.650000	0.86243	GCA		0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SUCO	51430	broad.mit.edu	37	1	172571855	172571855	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172571855G>T	ENST00000263688.3	+	22	3412	c.3193G>T	c.(3193-3195)Gat>Tat	p.D1065Y	SUCO_ENST00000610051.1_Missense_Mutation_p.D694Y|SUCO_ENST00000608151.1_Missense_Mutation_p.D1217Y|SUCO_ENST00000367723.4_Missense_Mutation_p.D1216Y	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1065					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.D1217Y(1)|p.D1065Y(1)									TTCCTATGATGATATGAATTT	0.338																																					p.D1065Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3193T	1						.						222.0	223.0	223.0					1																	172571855		2203	4300	6503	170838478	SO:0001583	missense	51430	exon22			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3193G>T	1.37:g.172571855G>T	ENSP00000263688:p.Asp1065Tyr		170838478	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962932	0.74016	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.84	5.84	0.93424	.	0.043062	0.85682	D	0.000000	T	0.76111	0.3942	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.999	T	0.77544	-0.2548	9	0.87932	D	0	-21.7605	18.6944	0.91594	0.0:0.0:1.0:0.0	.	694;1065;1217;1065	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	Y	1217;1065	.	ENSP00000263688:D1065Y	D	+	1	0	C1orf9	170838478	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.437000	0.90302	2.751000	0.94390	0.655000	0.94253	GAT		0.338	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SLC9C2	284525	broad.mit.edu	37	1	173502869	173502869	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173502869A>G	ENST00000367714.3	-	17	2464	c.2042T>C	c.(2041-2043)aTt>aCt	p.I681T	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	681	Ion transport-like. {ECO:0000250}.				sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.I681T(1)									AATGATTCCAATAACCAGGAT	0.284																																					p.I681T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2042C	1						.						53.0	60.0	57.0					1																	173502869		2202	4295	6497	171769492	SO:0001583	missense	284525	exon17			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2042T>C	1.37:g.173502869A>G	ENSP00000356687:p.Ile681Thr		171769492	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	1.595	-0.528122	0.04112	.	.	ENSG00000162753	ENST00000367714	D	0.97480	-4.4	5.26	2.78	0.32641	Ion transport (1);	1.831980	0.02557	N	0.096329	D	0.85665	0.5749	N	0.11560	0.145	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.80863	-0.1192	10	0.48119	T	0.1	-0.6316	4.2694	0.10778	0.7301:0.0:0.0942:0.1756	.	681	Q5TAH2	S9A11_HUMAN	T	681	ENSP00000356687:I681T	ENSP00000356687:I681T	I	-	2	0	SLC9A11	171769492	0.027000	0.19231	0.016000	0.15963	0.002000	0.02628	1.280000	0.33202	0.956000	0.37904	0.528000	0.53228	ATT		0.284	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173505010	173505010	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173505010G>T	ENST00000367714.3	-	15	2156	c.1734C>A	c.(1732-1734)ttC>ttA	p.F578L	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	578					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.F578L(1)									AATATTCCAAGAAAGTTAAAA	0.259																																					p.F578L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1734A	1						.						30.0	36.0	34.0					1																	173505010		2143	4195	6338	171771633	SO:0001583	missense	284525	exon15			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1734C>A	1.37:g.173505010G>T	ENSP00000356687:p.Phe578Leu		171771633	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	1.013	-0.687321	0.03328	.	.	ENSG00000162753	ENST00000367714	T	0.04275	3.66	5.81	2.48	0.30137	.	0.605739	0.15672	N	0.250356	T	0.00967	0.0032	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.47898	-0.9081	10	0.11485	T	0.65	-5.8685	3.7288	0.08485	0.2435:0.2051:0.5513:0.0	.	578	Q5TAH2	S9A11_HUMAN	L	578	ENSP00000356687:F578L	ENSP00000356687:F578L	F	-	3	2	SLC9A11	171771633	0.739000	0.28196	0.234000	0.24042	0.083000	0.17756	1.040000	0.30278	0.747000	0.32809	0.603000	0.83216	TTC		0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
KLHL20	27252	broad.mit.edu	37	1	173685202	173685202	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173685202G>A	ENST00000209884.4	+	2	156	c.20G>A	c.(19-21)cGc>cAc	p.R7H	KLHL20_ENST00000546011.1_Silent_p.A9A|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	7					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.R7H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AAGCCAATGCGCAGGTAGGCA	0.338																																					p.R7H	GBM(159;862 2695 6559 23041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G20A	1						.						146.0	136.0	140.0					1																	173685202		2203	4300	6503	171951825	SO:0001583	missense	27252	exon2			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.20G>A	1.37:g.173685202G>A	ENSP00000209884:p.Arg7His		171951825	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398910	0.83120	.	.	ENSG00000076321	ENST00000209884	T	0.69806	-0.43	5.3	5.3	0.74995	.	0.727185	0.14156	N	0.337718	T	0.60779	0.2295	N	0.14661	0.345	0.80722	D	1	D;D	0.65815	0.995;0.976	D;P	0.69479	0.964;0.522	T	0.64058	-0.6496	10	0.45353	T	0.12	.	14.816	0.70034	0.0:0.0:1.0:0.0	.	7;7	Q9BS75;Q9Y2M5	.;KLH20_HUMAN	H	7	ENSP00000209884:R7H	ENSP00000209884:R7H	R	+	2	0	KLHL20	171951825	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.841000	0.62824	2.616000	0.88540	0.655000	0.94253	CGC		0.338	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
CENPL	91687	broad.mit.edu	37	1	173776547	173776547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173776547C>A	ENST00000345664.6	-	3	491	c.278G>T	c.(277-279)aGa>aTa	p.R93I	CENPL_ENST00000356198.2_Missense_Mutation_p.R93I|Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000367710.3_Missense_Mutation_p.R93I	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	93					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.R93I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ATTGAGAAGTCTAGAATACTC	0.358																																					p.R93I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278T	1						.						60.0	65.0	63.0					1																	173776547		2203	4300	6503	172043170	SO:0001583	missense	91687	exon4			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"""chromosome 1 open reading frame 155"""	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.278G>T	1.37:g.173776547C>A	ENSP00000323543:p.Arg93Ile		172043170	NM_001127181	Q5TEL5|Q96ND4	Missense_Mutation	SNP	ENST00000345664.6	37	CCDS30938.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939640	0.52972	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.55760	1.08;0.5;0.5	5.63	2.45	0.29901	.	0.203175	0.49916	D	0.000138	T	0.32704	0.0838	L	0.53249	1.67	0.58432	D	0.999996	P;B	0.45474	0.859;0.314	B;B	0.40009	0.316;0.284	T	0.25467	-1.0131	10	0.87932	D	0	-1.7003	12.2682	0.54691	0.0:0.8317:0.0:0.1683	.	93;93	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	I	93	ENSP00000348527:R93I;ENSP00000323543:R93I;ENSP00000356683:R93I	ENSP00000323543:R93I	R	-	2	0	CENPL	172043170	0.970000	0.33590	1.000000	0.80357	0.978000	0.69477	0.695000	0.25527	0.261000	0.21753	0.655000	0.94253	AGA		0.358	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084213.1	NM_033319	
DARS2	55157	broad.mit.edu	37	1	173797501	173797501	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173797501C>T	ENST00000361951.4	+	3	985	c.258C>T	c.(256-258)ttC>ttT	p.F86F	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	86					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.F86F(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TAAGAGATTTCGATGGGCTTG	0.373																																					p.F86F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258T	1						.						100.0	100.0	100.0					1																	173797501		2203	4300	6503	172064124	SO:0001819	synonymous_variant	55157	exon3			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.258C>T	1.37:g.173797501C>T			172064124	NM_018122		Silent	SNP	ENST00000361951.4	37	CCDS1311.1																																																																																				0.373	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	
DARS2	55157	broad.mit.edu	37	1	173822638	173822638	+	Missense_Mutation	SNP	C	C	T	rs146122206		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173822638C>T	ENST00000361951.4	+	14	2223	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L	DARS2_ENST00000239457.5_Missense_Mutation_p.S81L|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	499					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.S499L(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGCTGGAATCGGCCCACCAC	0.507																																					p.S499L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1496T	1						.						89.0	87.0	87.0					1																	173822638		2203	4300	6503	172089261	SO:0001583	missense	55157	exon14			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1496C>T	1.37:g.173822638C>T	ENSP00000355086:p.Ser499Leu		172089261	NM_018122		Missense_Mutation	SNP	ENST00000361951.4	37	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816641	0.90790	.	.	ENSG00000117593	ENST00000361951;ENST00000239457	D;D	0.92149	-1.78;-2.98	5.38	4.45	0.53987	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.063272	0.64402	D	0.000003	D	0.96046	0.8712	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96921	0.9674	10	0.87932	D	0	-13.5637	14.9191	0.70822	0.0:0.8558:0.1442:0.0	.	499	Q6PI48	SYDM_HUMAN	L	499;81	ENSP00000355086:S499L;ENSP00000239457:S81L	ENSP00000239457:S81L	S	+	2	0	DARS2	172089261	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.603000	0.82811	1.236000	0.43740	0.591000	0.81541	TCG		0.507	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122	
PADI2	11240	broad.mit.edu	37	1	17413184	17413184	+	Silent	SNP	G	G	A	rs141669259	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:17413184G>A	ENST00000375486.4	-	7	729	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PADI2_ENST00000444885.2_Missense_Mutation_p.S141L|PADI2_ENST00000375481.1_Silent_p.F222F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	222					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.F222F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGCGTTGGCCGAAGAACGGGT	0.592																																					p.F222F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666T	1						.	A		1,4405	2.1+/-5.4	0,1,2202	70.0	75.0	73.0		666	-1.9	1.0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	PADI2	NM_007365.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		222/666	17413184	1,13005	2203	4300	6503	17285771	SO:0001819	synonymous_variant	11240	exon7			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.666C>T	1.37:g.17413184G>A			17285771	NM_007365	Q96DA7|Q9UPN2	Silent	SNP	ENST00000375486.4	37	CCDS177.1	.	.	.	.	.	.	.	.	.	.	g	11.31	1.599793	0.28534	2.27E-4	0.0	ENSG00000117115	ENST00000444885	T	0.04862	3.54	4.84	-1.86	0.07760	.	.	.	.	.	T	0.02688	0.0081	.	.	.	0.22961	N	0.998505	B	0.02656	0.0	B	0.01281	0.0	T	0.48647	-0.9017	8	0.09843	T	0.71	-25.7629	6.2439	0.20805	0.5113:0.0:0.3621:0.1266	.	141	B4DIU3	.	L	141	ENSP00000405894:S141L	ENSP00000405894:S141L	S	-	2	0	PADI2	17285771	0.029000	0.19370	0.991000	0.47740	0.677000	0.39632	-1.113000	0.03296	-0.208000	0.10171	-0.993000	0.02533	TCG		0.592	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1		
RABGAP1L	9910	broad.mit.edu	37	1	174274198	174274198	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:174274198G>T	ENST00000251507.4	+	11	1572	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.K429N|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.K113N	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.K466N(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGTCTGACAAGGAGGAACCAG	0.448																																					p.K466N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1398T	1						.						90.0	78.0	82.0					1																	174274198		2203	4300	6503	172540821	SO:0001583	missense	9910	exon11			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1398G>T	1.37:g.174274198G>T	ENSP00000251507:p.Lys466Asn		172540821	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157405	0.38119	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.44881	0.91;3.5;0.93	5.33	0.206	0.15208	.	0.188770	0.46145	D	0.000304	T	0.26738	0.0654	L	0.36672	1.1	0.80722	D	1	P;B;B;B;P	0.37276	0.514;0.327;0.177;0.177;0.589	B;B;B;B;B	0.35813	0.151;0.045;0.093;0.093;0.211	T	0.03315	-1.1049	10	0.24483	T	0.36	.	8.1102	0.30909	0.4221:0.0:0.5779:0.0	.	478;113;466;466;429	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	N	429;113;466;478;478	ENSP00000350027:K429N;ENSP00000251507:K466N;ENSP00000403136:K478N	ENSP00000251507:K466N	K	+	3	2	RABGAP1L	172540821	0.886000	0.30341	0.995000	0.50966	0.996000	0.88848	-0.325000	0.07976	-0.009000	0.14296	0.655000	0.94253	AAG		0.448	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
CACYBP	27101	broad.mit.edu	37	1	174979150	174979150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:174979150C>T	ENST00000367679.2	+	6	1070	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CACYBP_ENST00000367681.2_Nonsense_Mutation_p.R165*|CACYBP_ENST00000405362.1_Nonsense_Mutation_p.R165*|MRPS14_ENST00000498253.1_5'Flank	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	208	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.R208*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATATGAAGCGAACCATTAA	0.393																																					p.R165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C493T	1						.						98.0	95.0	96.0					1																	174979150		2203	4300	6503	173245773	SO:0001587	stop_gained	27101	exon6			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.622C>T	1.37:g.174979150C>T	ENSP00000356652:p.Arg208*		173245773	NM_001007214	B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Nonsense_Mutation	SNP	ENST00000367679.2	37	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	38	6.700454	0.97772	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	5.89	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4319	16.5609	0.84566	0.3408:0.6592:0.0:0.0	.	.	.	.	X	165;181;208;165	.	ENSP00000356652:R208X	R	+	1	2	CACYBP	173245773	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.898000	0.39809	0.845000	0.35118	-1.357000	0.01221	CGA		0.393	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412	
TNN	63923	broad.mit.edu	37	1	175046851	175046851	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175046851C>T	ENST00000239462.4	+	2	410	c.297C>T	c.(295-297)tgC>tgT	p.C99C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	99					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.C99C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGGACTGCGAGTTGGCAG	0.607																																					p.C99C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	1						.						57.0	55.0	56.0					1																	175046851		2203	4300	6503	173313474	SO:0001819	synonymous_variant	63923	exon2			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.297C>T	1.37:g.175046851C>T			173313474	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																				0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu	37	1	175052929	175052929	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175052929G>T	ENST00000239462.4	+	5	1205	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	364	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.E364D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATGAGACTGAGAACTCCCTTG	0.557																																					p.E364D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1092T	1						.						98.0	84.0	89.0					1																	175052929		2203	4300	6503	173319552	SO:0001583	missense	63923	exon5			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1092G>T	1.37:g.175052929G>T	ENSP00000239462:p.Glu364Asp		173319552	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267026	0.40095	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57752	0.38	5.28	2.42	0.29668	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051579	0.85682	D	0.000000	T	0.59459	0.2195	L	0.49699	1.58	0.25914	N	0.983191	D;P	0.67145	0.996;0.872	D;P	0.66716	0.946;0.781	T	0.48536	-0.9027	10	0.35671	T	0.21	.	8.2076	0.31465	0.3093:0.0:0.6907:0.0	.	364;364	B3KXB6;Q9UQP3	.;TENN_HUMAN	D	364	ENSP00000239462:E364D	ENSP00000239462:E364D	E	+	3	2	TNN	173319552	0.010000	0.17322	0.121000	0.21740	0.346000	0.29079	0.275000	0.18698	0.619000	0.30197	-0.216000	0.12614	GAG		0.557	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNN	63923	broad.mit.edu	37	1	175054543	175054543	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175054543C>T	ENST00000239462.4	+	6	1350	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	413	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.L413L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTTCCAGGTCTGCACCCGGG	0.592																																					p.L413L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1237T	1						.						52.0	46.0	48.0					1																	175054543		2203	4300	6503	173321166	SO:0001819	synonymous_variant	63923	exon6			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1237C>T	1.37:g.175054543C>T			173321166	NM_022093	B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	CCDS30943.1																																																																																				0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNR	7143	broad.mit.edu	37	1	175299265	175299265	+	Silent	SNP	G	G	A	rs377731803		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175299265G>A	ENST00000367674.2	-	21	4446	c.3738C>T	c.(3736-3738)gtC>gtT	p.V1246V	TNR_ENST00000263525.2_Silent_p.V1246V|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1246	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.V1246V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCTGTCCTCGACAGAGAACC	0.582																																					p.V1246V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3738T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	84.0	70.0	75.0		3738	-6.2	0.4	1		75	0,8600		0,0,4300	no	coding-synonymous	TNR	NM_003285.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1246/1359	175299265	1,13005	2203	4300	6503	173565888	SO:0001819	synonymous_variant	7143	exon21			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3738C>T	1.37:g.175299265G>A			173565888	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.582	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175328855	175328855	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175328855G>T	ENST00000367674.2	-	15	3575	c.2867C>A	c.(2866-2868)cCt>cAt	p.P956H	TNR_ENST00000263525.2_Missense_Mutation_p.P956H			Q92752	TENR_HUMAN	tenascin R	956	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P956H(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGATCCACAGGGTTGTCCAT	0.473																																					p.P956H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2867A	1						.						96.0	83.0	88.0					1																	175328855		2203	4300	6503	173595478	SO:0001583	missense	7143	exon15			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2867C>A	1.37:g.175328855G>T	ENSP00000356646:p.Pro956His		173595478	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778199	0.90195	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79940	-1.32;-1.32	5.85	5.85	0.93711	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92565	0.6061	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	956	Q92752	TENR_HUMAN	H	956;956;866	ENSP00000356646:P956H;ENSP00000263525:P956H	ENSP00000263525:P956H	P	-	2	0	TNR	173595478	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.143000	0.94623	2.753000	0.94483	0.655000	0.94253	CCT		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175331866	175331866	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175331866G>A	ENST00000367674.2	-	14	3495	c.2787C>T	c.(2785-2787)taC>taT	p.Y929Y	TNR_ENST00000263525.2_Silent_p.Y929Y			Q92752	TENR_HUMAN	tenascin R	929	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.Y929Y(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCTGATTTCGTATTCGGTAG	0.532																																					p.Y929Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2787T	1						.						218.0	185.0	196.0					1																	175331866		2203	4300	6503	173598489	SO:0001819	synonymous_variant	7143	exon14			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2787C>T	1.37:g.175331866G>A			173598489	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175355352	175355352	+	Silent	SNP	G	G	A	rs375626142		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175355352G>A	ENST00000367674.2	-	8	2301	c.1593C>T	c.(1591-1593)gtC>gtT	p.V531V	TNR_ENST00000263525.2_Silent_p.V531V			Q92752	TENR_HUMAN	tenascin R	531	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.V531V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAATGAAATCGACTTTGGCTC	0.577																																					p.V531V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1593T	1						.	G		0,4406		0,0,2203	31.0	36.0	34.0		1593	-8.3	0.7	1		34	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	TNR	NM_003285.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		531/1359	175355352	4,13002	2203	4300	6503	173621975	SO:0001819	synonymous_variant	7143	exon8			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1593C>T	1.37:g.175355352G>A			173621975	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.577	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
PADI1	29943	broad.mit.edu	37	1	17567149	17567149	+	Missense_Mutation	SNP	G	G	A	rs140750531	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:17567149G>A	ENST00000375471.4	+	15	1744	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	PADI1_ENST00000537499.1_Missense_Mutation_p.R108H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Missense_Mutation_p.R22H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	551					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R551H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GACTGGAACCGTAATGTGCTG	0.572													G|||	35	0.00698882	0.0008	0.0274	5008	,	,		19850	0.0119		0.0	False		,,,				2504	0.0031				p.R551H	Esophageal Squamous(80;414 1257 4580 27746 50832)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652A	1						.	G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	102.0	98.0	100.0		1652	3.6	1.0	1	dbSNP_134	100	8,8592	6.4+/-24.3	0,8,4292	yes	missense	PADI1	NM_013358.2	29	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	probably-damaging	551/664	17567149	11,12995	2203	4300	6503	17439736	SO:0001583	missense	29943	exon15			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1652G>A	1.37:g.17567149G>A	ENSP00000364620:p.Arg551His		17439736	NM_013358	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	CCDS178.1	16	0.007326007326007326	1	0.0020325203252032522	5	0.013812154696132596	10	0.017482517482517484	0	0.0	G	16.61	3.171148	0.57584	6.81E-4	9.3E-4	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000536552	T;T;T	0.34667	1.35;1.35;1.35	3.61	3.61	0.41365	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.84585	2.705	0.41271	D	0.986847	D	0.89917	1.0	D	0.97110	1.0	T	0.65606	-0.6127	10	0.59425	D	0.04	-19.2604	13.9947	0.64390	0.0:0.0:1.0:0.0	.	551	Q9ULC6	PADI1_HUMAN	H	551;108;22	ENSP00000364620:R551H;ENSP00000444032:R108H;ENSP00000444833:R22H	ENSP00000364620:R551H	R	+	2	0	PADI1	17439736	1.000000	0.71417	0.995000	0.50966	0.232000	0.25224	9.087000	0.94110	1.871000	0.54225	0.455000	0.32223	CGT		0.572	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	
TNR	7143	broad.mit.edu	37	1	175375428	175375428	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:175375428G>A	ENST00000367674.2	-	3	1131	c.423C>T	c.(421-423)atC>atT	p.I141I	TNR_ENST00000263525.2_Silent_p.I141I			Q92752	TENR_HUMAN	tenascin R	141					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.I141I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCATCTCGATCCGGCTCA	0.597																																					p.I141I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	1						.						140.0	123.0	129.0					1																	175375428		2203	4300	6503	173642051	SO:0001819	synonymous_variant	7143	exon3			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.423C>T	1.37:g.175375428G>A			173642051	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901242	0.17760	.	.	ENSG00000116147	ENST00000422274	.	.	.	5.24	-5.95	0.02241	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2574	0.04059	0.4861:0.0979:0.2199:0.1961	.	.	.	.	X	25	.	.	R	-	1	2	TNR	173642051	0.669000	0.27502	0.426000	0.26672	0.874000	0.50279	-0.091000	0.11146	-1.106000	0.03008	-1.083000	0.02208	CGA		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
RFWD2	64326	broad.mit.edu	37	1	176132982	176132982	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:176132982C>A	ENST00000367669.3	-	4	1125	c.611G>T	c.(610-612)aGg>aTg	p.R204M	RFWD2_ENST00000308769.8_Missense_Mutation_p.R204M	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	204					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.R204M(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAATTTGAACCTCTTTTCCTC	0.269																																					p.R204M	Ovarian(134;1413 1765 5706 35534 51541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611T	1						.						54.0	53.0	53.0					1																	176132982		2203	4294	6497	174399605	SO:0001583	missense	64326	exon4			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.611G>T	1.37:g.176132982C>A	ENSP00000356641:p.Arg204Met		174399605	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182575	0.78677	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.1	5.1	0.69264	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.50333	1.59	0.80722	D	1	P;D;P	0.61697	0.931;0.99;0.88	P;D;P	0.69142	0.56;0.962;0.84	T	0.01228	-1.1412	10	0.45353	T	0.12	-14.6798	18.1145	0.89546	0.0:1.0:0.0:0.0	.	204;204;204	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	M	204;59;204;63;204	ENSP00000356641:R204M;ENSP00000356638:R59M;ENSP00000310943:R204M;ENSP00000433810:R63M	ENSP00000310943:R204M	R	-	2	0	RFWD2	174399605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.920000	0.63390	2.350000	0.79820	0.591000	0.81541	AGG		0.269	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	
PAPPA2	60676	broad.mit.edu	37	1	176659600	176659600	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:176659600G>A	ENST00000367662.3	+	5	3595				PAPPA2_ENST00000367661.3_Missense_Mutation_p.R822K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R822K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTGTTAAGAATACATGGG	0.488																																					p.R822K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2465A	1						.						48.0	47.0	47.0					1																	176659600		1875	4104	5979	174926223	SO:0001627	intron_variant	60676	exon5			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2431+34G>A	1.37:g.176659600G>A			174926223	NM_021936	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Intron	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537133	0.27475	.	.	ENSG00000116183	ENST00000367661	T	0.30448	1.53	5.19	3.26	0.37387	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.26052	-1.0114	7	.	.	.	.	7.0513	0.25075	0.0937:0.1748:0.7315:0.0	.	822	A9Z1Y8	.	K	822	ENSP00000356633:R822K	.	R	+	2	0	PAPPA2	174926223	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.035000	0.13797	0.649000	0.30751	0.462000	0.41574	AGA		0.488	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	broad.mit.edu	37	1	176709326	176709326	+	Missense_Mutation	SNP	G	G	T	rs371355700		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:176709326G>T	ENST00000367662.3	+	14	5309	c.4145G>T	c.(4144-4146)gGa>gTa	p.G1382V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1382					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G1382V(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AATCATCAGGGACAGAGGTAC	0.473																																					p.G1382V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4145T	1						.						69.0	67.0	68.0					1																	176709326		1966	4158	6124	174975949	SO:0001583	missense	60676	exon14			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4145G>T	1.37:g.176709326G>T	ENSP00000356634:p.Gly1382Val		174975949	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696627	0.30142	.	.	ENSG00000116183	ENST00000367662	T	0.01629	4.72	5.91	1.94	0.25998	.	1.101770	0.06730	N	0.776460	T	0.02688	0.0081	M	0.63843	1.955	0.80722	D	1	B	0.28783	0.222	B	0.18871	0.023	T	0.36187	-0.9758	10	0.42905	T	0.14	-1.5173	6.4213	0.21746	0.2069:0.2403:0.5528:0.0	.	1382	Q9BXP8	PAPP2_HUMAN	V	1382	ENSP00000356634:G1382V	ENSP00000356634:G1382V	G	+	2	0	PAPPA2	174975949	0.984000	0.35163	1.000000	0.80357	0.807000	0.45602	0.431000	0.21444	0.403000	0.25479	-0.150000	0.13652	GGA		0.473	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
BRINP2	57795	broad.mit.edu	37	1	177242646	177242646	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177242646C>A	ENST00000361539.4	+	5	1004	c.692C>A	c.(691-693)cCt>cAt	p.P231H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	231	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.P231H(1)									AGGACCGGTCCTCTGGGCTGC	0.493																																					p.P231H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692A	1						.						92.0	82.0	85.0					1																	177242646		2203	4300	6503	175509269	SO:0001583	missense	57795	exon5				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.692C>A	1.37:g.177242646C>A	ENSP00000354481:p.Pro231His		175509269	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977098	0.92982	.	.	ENSG00000198797	ENST00000361539	T	0.22336	1.96	5.24	5.24	0.73138	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.983;0.997	T	0.52646	-0.8548	10	0.87932	D	0	-13.2285	18.4376	0.90652	0.0:1.0:0.0:0.0	.	126;231	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	231	ENSP00000354481:P231H	ENSP00000354481:P231H	P	+	2	0	FAM5B	175509269	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.711000	0.84669	2.459000	0.83118	0.655000	0.94253	CCT		0.493	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
BRINP2	57795	broad.mit.edu	37	1	177247890	177247890	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177247890C>T	ENST00000361539.4	+	7	1516	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	402					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R402C(2)									GCGCTGCCATCGCCAGCCTCG	0.617																																					p.R402C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1204T	1						.						53.0	55.0	54.0					1																	177247890		2203	4300	6503	175514513	SO:0001583	missense	57795	exon7				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1204C>T	1.37:g.177247890C>T	ENSP00000354481:p.Arg402Cys		175514513	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607974	0.66558	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.15372	2.43	5.39	3.36	0.38483	.	0.230912	0.38436	N	0.001681	T	0.26521	0.0648	L	0.44542	1.39	0.33909	D	0.639466	B;D;B	0.89917	0.038;1.0;0.029	B;P;B	0.62184	0.017;0.899;0.003	T	0.35201	-0.9798	10	0.72032	D	0.01	-26.6843	7.9241	0.29863	0.2778:0.6323:0.0:0.09	.	152;297;402	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	C	152;402	ENSP00000354481:R402C	ENSP00000354481:R402C	R	+	1	0	FAM5B	175514513	0.943000	0.32029	0.997000	0.53966	0.983000	0.72400	2.108000	0.41854	1.278000	0.44430	0.655000	0.94253	CGC		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
BRINP2	57795	broad.mit.edu	37	1	177250109	177250109	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177250109G>A	ENST00000361539.4	+	8	2109	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	599					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E599E(1)									GCCACTCTGAGAGCTGGTTCA	0.552																																					p.E599E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1797A	1						.						58.0	57.0	57.0					1																	177250109		2203	4300	6503	175516732	SO:0001819	synonymous_variant	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1797G>A	1.37:g.177250109G>A			175516732	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																				0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
BRINP2	57795	broad.mit.edu	37	1	177250258	177250258	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177250258G>A	ENST00000361539.4	+	8	2258	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	649					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R649Q(2)									CTACGGAGCCGAATCAAGTCC	0.463																																					p.R649Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1946A	1						.						62.0	61.0	61.0					1																	177250258		2203	4300	6503	175516881	SO:0001583	missense	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1946G>A	1.37:g.177250258G>A	ENSP00000354481:p.Arg649Gln		175516881	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190002	0.78789	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.17691	2.26	5.16	5.16	0.70880	.	0.062133	0.64402	D	0.000004	T	0.42787	0.1218	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.34700	-0.9818	10	0.72032	D	0.01	-7.2313	18.2239	0.89910	0.0:0.0:1.0:0.0	.	544;649	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Q	402;649	ENSP00000354481:R649Q	ENSP00000354481:R649Q	R	+	2	0	FAM5B	175516881	1.000000	0.71417	0.988000	0.46212	0.746000	0.42486	9.726000	0.98782	2.391000	0.81399	0.313000	0.20887	CGA		0.463	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
BRINP2	57795	broad.mit.edu	37	1	177250535	177250535	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177250535C>A	ENST00000361539.4	+	8	2535	c.2223C>A	c.(2221-2223)ttC>ttA	p.F741L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	741					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.F741L(1)									TTGACCTTTTCTCCTGCTTGC	0.552																																					p.F741L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2223A	1						.						88.0	79.0	82.0					1																	177250535		2203	4300	6503	175517158	SO:0001583	missense	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2223C>A	1.37:g.177250535C>A	ENSP00000354481:p.Phe741Leu		175517158	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076228	0.55646	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.17854	2.25	5.05	0.955	0.19602	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.69823	2.125	0.58432	D	0.999997	D;D	0.76494	0.999;0.993	D;D	0.80764	0.994;0.956	T	0.02519	-1.1147	10	0.38643	T	0.18	-23.0026	10.1966	0.43058	0.0:0.7265:0.0:0.2735	.	636;741	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	L	494;741	ENSP00000354481:F741L	ENSP00000354481:F741L	F	+	3	2	FAM5B	175517158	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.937000	0.28951	0.164000	0.19529	0.313000	0.20887	TTC		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
RCC2	55920	broad.mit.edu	37	1	17755625	17755625	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:17755625C>T	ENST00000375436.4	-	3	543	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	RCC2_ENST00000375433.3_Missense_Mutation_p.R119Q	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	119					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)	p.R119Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CACTTCTTTTCGACCAATCAA	0.443																																					p.R119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356A	1						.						147.0	122.0	130.0					1																	17755625		2203	4300	6503	17628212	SO:0001583	missense	55920	exon2				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.356G>A	1.37:g.17755625C>T	ENSP00000364585:p.Arg119Gln		17628212	NM_001136204	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500738	0.85176	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.80480	-1.38;-1.38	5.72	5.72	0.89469	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.87156	0.6107	L	0.52206	1.635	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.85121	0.0969	10	0.39692	T	0.17	-7.6483	18.8071	0.92041	0.0:1.0:0.0:0.0	.	119	Q9P258	RCC2_HUMAN	Q	119	ENSP00000364585:R119Q;ENSP00000364582:R119Q	ENSP00000364582:R119Q	R	-	2	0	RCC2	17628212	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.596000	0.82721	2.865000	0.98341	0.655000	0.94253	CGA		0.443	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715	
SEC16B	89866	broad.mit.edu	37	1	177928080	177928080	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:177928080C>T	ENST00000308284.6	-	9	1118	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	SEC16B_ENST00000464631.2_Silent_p.T344T|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	343					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.T344T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGGCAAAACGTCATAATAT	0.502																																					p.T343T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	1						.						62.0	60.0	60.0					1																	177928080		1911	4132	6043	176194703	SO:0001819	synonymous_variant	89866	exon9			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1029G>A	1.37:g.177928080C>T			176194703	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	CCDS44281.1																																																																																				0.502	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
RALGPS2	55103	broad.mit.edu	37	1	178802660	178802660	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:178802660G>T	ENST00000367635.3	+	8	920	c.582G>T	c.(580-582)aaG>aaT	p.K194N	RALGPS2_ENST00000367634.2_Missense_Mutation_p.K194N	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	194	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K194N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTAGCTTAAAGATGACACCTT	0.303																																					p.K194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G582T	1						.						144.0	139.0	141.0					1																	178802660		2203	4292	6495	177069283	SO:0001583	missense	55103	exon8			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.582G>T	1.37:g.178802660G>T	ENSP00000356607:p.Lys194Asn		177069283	NM_152663	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107667	0.56291	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.29142	1.58;1.58;1.58	6.01	6.01	0.97437	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.077693	0.85682	D	0.000000	T	0.33527	0.0866	L	0.41236	1.265	0.51233	D	0.999919	P;P	0.45902	0.868;0.868	P;P	0.51453	0.67;0.67	T	0.01966	-1.1238	10	0.09338	T	0.73	.	13.3441	0.60561	0.0723:0.0:0.9277:0.0	.	194;194	B7Z7B1;Q86X27	.;RGPS2_HUMAN	N	194;194;159	ENSP00000356607:K194N;ENSP00000356606:K194N;ENSP00000313613:K159N	ENSP00000313613:K159N	K	+	3	2	RALGPS2	177069283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.251000	0.43187	2.861000	0.98227	0.650000	0.86243	AAG		0.303	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663	
ANGPTL1	9068	broad.mit.edu	37	1	178834689	178834689	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:178834689T>C	ENST00000234816.2	-	3	670	c.223A>G	c.(223-225)Acc>Gcc	p.T75A	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.T75A	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	75					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.T75A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCTTTAATGGTACTTGCATCT	0.463																																					p.T75A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A223G	1						.						302.0	223.0	250.0					1																	178834689		2203	4300	6503	177101312	SO:0001583	missense	9068	exon3			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.223A>G	1.37:g.178834689T>C	ENSP00000234816:p.Thr75Ala		177101312	NM_004673	Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	T	4.032	0.003399	0.07866	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.53640	0.61;0.61	5.52	1.85	0.25348	.	0.467342	0.25668	N	0.029092	T	0.27098	0.0664	N	0.19112	0.55	0.21782	N	0.999544	B	0.06786	0.001	B	0.12156	0.007	T	0.20140	-1.0284	10	0.15066	T	0.55	.	8.2488	0.31704	0.0:0.2287:0.0:0.7713	.	75	O95841	ANGL1_HUMAN	A	75;75;39;75	ENSP00000234816:T75A;ENSP00000356601:T75A	ENSP00000234816:T75A	T	-	1	0	ANGPTL1	177101312	0.978000	0.34361	0.612000	0.29024	0.975000	0.68041	0.670000	0.25157	0.068000	0.16574	0.454000	0.30748	ACC		0.463	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673	
TOR3A	64222	broad.mit.edu	37	1	179064252	179064252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179064252G>T	ENST00000367627.3	+	6	1845	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	365					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E365*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						GACACTGGATGAAATAGCCCA	0.507																																					p.E365X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1093T	1						.						174.0	167.0	169.0					1																	179064252		2203	4300	6503	177330875	SO:0001587	stop_gained	64222	exon6			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1093G>T	1.37:g.179064252G>T	ENSP00000356599:p.Glu365*		177330875	NM_022371	B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Nonsense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	39	7.699119	0.98441	.	.	ENSG00000186283	ENST00000367627	.	.	.	5.91	2.46	0.29980	.	0.332562	0.34906	N	0.003596	.	.	.	.	.	.	0.42059	D	0.991151	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-2.4396	3.6602	0.08236	0.1632:0.2447:0.4762:0.1159	.	.	.	.	X	365	.	ENSP00000356599:E365X	E	+	1	0	TOR3A	177330875	1.000000	0.71417	0.028000	0.17463	0.222000	0.24845	3.666000	0.54540	0.757000	0.33036	0.655000	0.94253	GAA		0.507	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371	
ABL2	27	broad.mit.edu	37	1	179087822	179087822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179087822C>A	ENST00000502732.1	-	7	1326	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	ABL2_ENST00000504405.1_Nonsense_Mutation_p.E339*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.E354*|ABL2_ENST00000392043.3_Nonsense_Mutation_p.E354*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.E360*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.E354*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.E375*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.E360*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.E339*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.E339*(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CGGTTGCATTCTCGGAGGTAA	0.428			T	ETV6	AML																																p.E339X			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1015T	1						.						182.0	157.0	165.0					1																	179087822		2203	4300	6503	177354445	SO:0001587	stop_gained	27	exon6			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1123G>T	1.37:g.179087822C>A	ENSP00000427562:p.Glu375*		177354445	NM_001168239	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	37	6.009085	0.97195	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.4674	0.87637	0.0:1.0:0.0:0.0	.	.	.	.	X	375;339;360;360;339;354;354;375;354	.	ENSP00000339209:E360X	E	-	1	0	ABL2	177354445	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	7.776000	0.85560	2.434000	0.82447	0.655000	0.94253	GAA		0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
AXDND1	126859	broad.mit.edu	37	1	179460808	179460808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179460808C>T	ENST00000367618.3	+	19	2614	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	743								p.R743*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGGAGTTGCGCGATTGGAGCT	0.413																																					p.R743X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2227T	1						.						168.0	162.0	164.0					1																	179460808		2203	4300	6503	177727431	SO:0001587	stop_gained	126859	exon19			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2227C>T	1.37:g.179460808C>T	ENSP00000356590:p.Arg743*		177727431	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888720	0.91814	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	.	.	.	5.5	-2.1	0.07210	.	1.326530	0.05005	N	0.469855	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-4.0432	7.941	0.29959	0.2199:0.5028:0.2773:0.0	.	.	.	.	X	743;701;677	.	ENSP00000353471:R701X	R	+	1	2	AXDND1	177727431	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-0.030000	0.12308	-0.660000	0.05352	0.591000	0.81541	CGA		0.413	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
AXDND1	126859	broad.mit.edu	37	1	179503004	179503004	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179503004G>T	ENST00000367618.3	+	24	3177	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	930	Glu-rich.							p.E930D(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATGCAGGAGAAGTTACTGT	0.403																																					p.E930D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2790T	1						.						136.0	125.0	129.0					1																	179503004		2203	4300	6503	177769627	SO:0001583	missense	126859	exon24			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2790G>T	1.37:g.179503004G>T	ENSP00000356590:p.Glu930Asp		177769627	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	3.110	-0.182758	0.06340	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.26223	1.75;1.75	4.5	0.211	0.15236	.	0.687725	0.13486	N	0.384326	T	0.12944	0.0314	L	0.27053	0.805	0.38036	D	0.935301	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20638	-1.0269	10	0.18276	T	0.48	-0.6102	3.1584	0.06512	0.0937:0.3066:0.4191:0.1806	.	814;930	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	D	930;814;790	ENSP00000356590:E930D;ENSP00000391716:E790D	ENSP00000353471:E814D	E	+	3	2	AXDND1	177769627	0.005000	0.15991	0.828000	0.32881	0.294000	0.27393	-0.121000	0.10643	-0.044000	0.13491	-0.976000	0.02587	GAG		0.403	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
NPHS2	7827	broad.mit.edu	37	1	179526313	179526313	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179526313C>T	ENST00000367615.4	-	5	655	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	196					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.R196Q(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						ATTTTCCATTCGGTAGTAGCA	0.428																																					p.R196Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587A	1	GRCh37	CM021649	NPHS2	M		.						136.0	117.0	123.0					1																	179526313		2203	4300	6503	177792936	SO:0001583	missense	7827	exon5			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.587G>A	1.37:g.179526313C>T	ENSP00000356587:p.Arg196Gln		177792936	NM_014625	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398396	0.96030	.	.	ENSG00000116218	ENST00000367615	D	0.95377	-3.69	5.78	5.78	0.91487	.	0.069580	0.64402	D	0.000018	D	0.96030	0.8707	L	0.55481	1.735	0.80722	D	1	P	0.47191	0.891	P	0.51945	0.685	D	0.96157	0.9112	10	0.72032	D	0.01	-10.1255	18.5762	0.91155	0.0:1.0:0.0:0.0	.	196	Q9NP85	PODO_HUMAN	Q	196	ENSP00000356587:R196Q	ENSP00000356587:R196Q	R	-	2	0	NPHS2	177792936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.507000	0.60434	2.749000	0.94314	0.655000	0.94253	CGA		0.428	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1		
TDRD5	163589	broad.mit.edu	37	1	179621199	179621199	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179621199C>T	ENST00000367614.1	+	13	2386	c.2027C>T	c.(2026-2028)gCt>gTt	p.A676V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A676V|TDRD5_ENST00000444136.1_Missense_Mutation_p.A676V	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	676					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.A676V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AACCCTTTAGCTTTATACACG	0.403																																					p.A676V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2027T	1						.						87.0	82.0	84.0					1																	179621199		2203	4300	6503	177887822	SO:0001583	missense	163589	exon13			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2027C>T	1.37:g.179621199C>T	ENSP00000356586:p.Ala676Val		177887822	NM_001199085	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833399	0.71258	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.38401	2.61;2.61;2.78;1.14	5.56	4.64	0.57946	.	0.692979	0.13632	N	0.373608	T	0.45796	0.1360	L	0.60455	1.87	0.33379	D	0.574579	D;P	0.53745	0.962;0.871	P;B	0.51170	0.661;0.376	T	0.56232	-0.8013	10	0.36615	T	0.2	-0.5054	12.9089	0.58169	0.1626:0.8374:0.0:0.0	.	676;676	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	676;676;676;132	ENSP00000356586:A676V;ENSP00000294848:A676V;ENSP00000406052:A676V;ENSP00000410744:A132V	ENSP00000294848:A676V	A	+	2	0	TDRD5	177887822	0.996000	0.38824	1.000000	0.80357	0.969000	0.65631	0.759000	0.26461	1.334000	0.45468	0.650000	0.86243	GCT		0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
ARHGEF10L	55160	broad.mit.edu	37	1	17948398	17948398	+	Missense_Mutation	SNP	G	G	A	rs371515222		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:17948398G>A	ENST00000361221.3	+	11	1141	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E106K|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E86K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E106K|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E328K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E289K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E289K	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	328	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E328K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTGCAGAGCGAAGGCAGCTA	0.612																																					p.E328K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G982A	1						.	G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	102.0	94.0	97.0		865,982	5.1	1.0	1		97	0,8600		0,0,4300	no	missense,missense	ARHGEF10L	NM_001011722.2,NM_018125.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	289/1241,328/1280	17948398	1,13005	2203	4300	6503	17820985	SO:0001583	missense	55160	exon11			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.982G>A	1.37:g.17948398G>A	ENSP00000355060:p.Glu328Lys		17820985	NM_018125	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975751	0.92982	2.27E-4	0.0	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.09	5.09	0.68999	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	H	0.96691	3.865	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;0.995;0.999	D;D;D;P;D;D;P;D	0.83275	0.986;0.976;0.975;0.759;0.996;0.975;0.886;0.968	D	0.99675	1.0997	10	0.72032	D	0.01	-18.5094	17.0479	0.86509	0.0:0.0:1.0:0.0	.	106;86;328;106;94;289;289;328	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	K	328;289;328;289;86;106;106;106	ENSP00000355060:E328K;ENSP00000399401:E289K;ENSP00000394621:E328K;ENSP00000364564:E289K;ENSP00000364569:E86K;ENSP00000364557:E106K;ENSP00000167825:E106K	ENSP00000167825:E106K	E	+	1	0	ARHGEF10L	17820985	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.076000	0.94009	2.370000	0.80446	0.561000	0.74099	GAA		0.612	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
FAM163A	148753	broad.mit.edu	37	1	179783254	179783254	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179783254A>G	ENST00000341785.4	+	5	830	c.434A>G	c.(433-435)tAc>tGc	p.Y145C	RP11-12M5.3_ENST00000453051.1_RNA|RP11-12M5.3_ENST00000415218.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	145						integral component of membrane (GO:0016021)		p.Y145C(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CCCCAGAGTTACCCGGTGACC	0.597																																					p.Y145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A434G	1						.						63.0	72.0	69.0					1																	179783254		2203	4300	6503	178049877	SO:0001583	missense	148753	exon5			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.434A>G	1.37:g.179783254A>G	ENSP00000354891:p.Tyr145Cys		178049877	NM_173509	A8K8R7	Missense_Mutation	SNP	ENST00000341785.4	37	CCDS1333.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.033565	0.35893	.	.	ENSG00000143340	ENST00000341785	.	.	.	4.67	2.1	0.27182	.	0.301825	0.31897	N	0.006898	T	0.41627	0.1167	L	0.36672	1.1	0.28529	N	0.91266	D	0.61697	0.99	P	0.53313	0.723	T	0.32481	-0.9905	9	0.59425	D	0.04	-19.0441	10.0085	0.41972	0.6514:0.0:0.0:0.3486	.	145	Q96GL9	F163A_HUMAN	C	145	.	ENSP00000354891:Y145C	Y	+	2	0	FAM163A	178049877	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	2.556000	0.45862	0.729000	0.32403	-0.490000	0.04691	TAC		0.597	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085300.1	NM_173509	
CEP350	9857	broad.mit.edu	37	1	179966252	179966252	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:179966252C>T	ENST00000367607.3	+	6	1378	c.960C>T	c.(958-960)aaC>aaT	p.N320N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	320					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N320N(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGTTGATAACTCAGTAACAG	0.428																																					p.N320N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C960T	1						.						120.0	131.0	128.0					1																	179966252		2203	4300	6503	178232875	SO:0001819	synonymous_variant	9857	exon6			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.960C>T	1.37:g.179966252C>T			178232875	NM_014810	O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	CCDS1336.1																																																																																				0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
CEP350	9857	broad.mit.edu	37	1	180061964	180061964	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180061964C>T	ENST00000367607.3	+	34	7142	c.6724C>T	c.(6724-6726)Ctt>Ttt	p.L2242F	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2242					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L2242F(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGTAGAATTCTTGATATGTC	0.323																																					p.L2242F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6724T	1						.						17.0	17.0	17.0					1																	180061964		2195	4291	6486	178328587	SO:0001583	missense	9857	exon34			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6724C>T	1.37:g.180061964C>T	ENSP00000356579:p.Leu2242Phe		178328587	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.009|0.009	-1.858811|-1.858811	0.00558|0.00558	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.57107|.	0.42|.	5.73|5.73	2.7|2.7	0.31948|0.31948	.|.	0.597834|.	0.13812|.	N|.	0.361049|.	T|T	0.25901|0.25901	0.0631|0.0631	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.18745|0.18745	-1.0327|-1.0327	9|5	.|.	.|.	.|.	.|.	6.7945|6.7945	0.23717|0.23717	0.0:0.6079:0.0:0.3921|0.0:0.6079:0.0:0.3921	.|.	2242;2242|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	F|F	2242|416	ENSP00000356579:L2242F|.	.|.	L|S	+|+	1|2	0|0	CEP350|CEP350	178328587|178328587	0.000000|0.000000	0.05858|0.05858	0.528000|0.528000	0.27938|0.27938	0.047000|0.047000	0.14425|0.14425	0.126000|0.126000	0.15769|0.15769	0.905000|0.905000	0.36596|0.36596	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.323	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
CEP350	9857	broad.mit.edu	37	1	180080232	180080232	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180080232T>C	ENST00000367607.3	+	38	9708	c.9290T>C	c.(9289-9291)aTc>aCc	p.I3097T	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3097					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I3097T(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAGACCCTGATCAAAGATACT	0.453																																					p.I3097T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T9290C	1						.						121.0	103.0	109.0					1																	180080232		2203	4300	6503	178346855	SO:0001583	missense	9857	exon38			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9290T>C	1.37:g.180080232T>C	ENSP00000356579:p.Ile3097Thr		178346855	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979070	0.74360	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.62105	0.05	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000131	T	0.78253	0.4254	M	0.72118	2.19	0.53005	D	0.999967	D;D	0.65815	0.993;0.995	D;D	0.72338	0.977;0.975	T	0.78056	-0.2353	9	.	.	.	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	3097;3097	E7EU22;Q5VT06	.;CE350_HUMAN	T	3097;561	ENSP00000356579:I3097T	.	I	+	2	0	CEP350	178346855	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.970000	0.70431	2.320000	0.78422	0.528000	0.53228	ATC		0.453	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
LHX4	89884	broad.mit.edu	37	1	180243490	180243490	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180243490A>G	ENST00000263726.2	+	6	1193	c.949A>G	c.(949-951)Ata>Gta	p.I317V	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	317					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.I317V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TCCATCCTCCATATCGTCCCT	0.542																																					p.I317V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A949G	1						.						190.0	166.0	174.0					1																	180243490		2203	4300	6503	178510113	SO:0001583	missense	89884	exon6			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.949A>G	1.37:g.180243490A>G	ENSP00000263726:p.Ile317Val		178510113	NM_033343	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568749	0.28003	.	.	ENSG00000121454	ENST00000263726	D	0.87729	-2.29	5.68	4.35	0.52113	.	0.049202	0.85682	D	0.000000	D	0.82508	0.5052	L	0.51422	1.61	0.50632	D	0.999888	B	0.18968	0.032	B	0.20184	0.028	T	0.78247	-0.2278	10	0.32370	T	0.25	.	11.2789	0.49181	0.9148:0.0:0.0852:0.0	.	317	Q969G2	LHX4_HUMAN	V	317	ENSP00000263726:I317V	ENSP00000263726:I317V	I	+	1	0	LHX4	178510113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.262000	0.43285	2.151000	0.67156	0.533000	0.62120	ATA		0.542	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343	
XPR1	9213	broad.mit.edu	37	1	180780600	180780600	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180780600C>A	ENST00000367590.4	+	7	937	c.739C>A	c.(739-741)Ctg>Atg	p.L247M	XPR1_ENST00000367589.3_Missense_Mutation_p.L247M	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	247					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.L247M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTCATTGTACTGAATATTAC	0.368																																					p.L247M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739A	1						.						162.0	144.0	150.0					1																	180780600		2203	4300	6503	179047223	SO:0001583	missense	9213	exon7			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.739C>A	1.37:g.180780600C>A	ENSP00000356562:p.Leu247Met		179047223	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496506	0.64186	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.55930	0.49	5.4	2.42	0.29668	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.78285	2.405	0.80722	D	1	P;P	0.51449	0.945;0.632	P;B	0.57152	0.814;0.41	T	0.61997	-0.6947	10	0.54805	T	0.06	-6.6507	8.0584	0.30619	0.0:0.6615:0.0:0.3385	.	247;247	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	M	247	ENSP00000356562:L247M	ENSP00000356561:L247M	L	+	1	2	XPR1	179047223	0.981000	0.34729	0.997000	0.53966	0.953000	0.61014	0.644000	0.24766	0.289000	0.22422	-0.150000	0.13652	CTG		0.368	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180794048	180794048	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180794048G>T	ENST00000367590.4	+	8	1121	c.923G>T	c.(922-924)aGa>aTa	p.R308I	AL590085.1_ENST00000579998.1_RNA|XPR1_ENST00000367589.3_Missense_Mutation_p.R308I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	308					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R308I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CTTAATCCGAGAAGCAATTTG	0.383																																					p.R308I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923T	1						.						131.0	121.0	124.0					1																	180794048		2203	4300	6503	179060671	SO:0001583	missense	9213	exon8			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.923G>T	1.37:g.180794048G>T	ENSP00000356562:p.Arg308Ile		179060671	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954902	0.92726	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.46451	0.87;0.87	5.65	5.65	0.86999	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77186	-0.2680	10	0.87932	D	0	-10.6426	19.315	0.94208	0.0:0.0:1.0:0.0	.	308;308	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	I	308	ENSP00000356562:R308I;ENSP00000356561:R308I	ENSP00000356561:R308I	R	+	2	0	XPR1	179060671	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.283000	0.95860	2.665000	0.90641	0.650000	0.86243	AGA		0.383	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180832953	180832953	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180832953C>T	ENST00000367590.4	+	12	1809	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	XPR1_ENST00000367589.3_Silent_p.F472F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	537	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.F537F(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGGGTCTCTTCGATAAGAATG	0.408																																					p.F472F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1416T	1						.						142.0	139.0	140.0					1																	180832953		2203	4300	6503	179099576	SO:0001819	synonymous_variant	9213	exon11			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1611C>T	1.37:g.180832953C>T			179099576	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																				0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180849378	180849378	+	Missense_Mutation	SNP	C	C	T	rs200954931		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:180849378C>T	ENST00000367590.4	+	14	2173	c.1975C>T	c.(1975-1977)Cgg>Tgg	p.R659W	XPR1_ENST00000367589.3_Missense_Mutation_p.R594W	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	659					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R659W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCAGAAGAATCGGTCATGGAA	0.522																																					p.R594W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1780T	1						.						158.0	149.0	152.0					1																	180849378		2203	4300	6503	179116001	SO:0001583	missense	9213	exon13			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1975C>T	1.37:g.180849378C>T	ENSP00000356562:p.Arg659Trp		179116001	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132725	0.77662	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48522	0.81	5.86	4.89	0.63831	.	0.106321	0.64402	D	0.000002	T	0.54415	0.1857	L	0.36672	1.1	0.24507	N	0.994223	D;D	0.69078	0.997;0.99	P;P	0.61132	0.877;0.884	T	0.49485	-0.8935	10	0.72032	D	0.01	-14.8572	13.559	0.61777	0.2558:0.7442:0.0:0.0	.	594;659	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	W	659;594	ENSP00000356562:R659W	ENSP00000356561:R594W	R	+	1	2	XPR1	179116001	1.000000	0.71417	0.995000	0.50966	0.876000	0.50452	3.635000	0.54309	2.777000	0.95525	0.591000	0.81541	CGG		0.522	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
MR1	3140	broad.mit.edu	37	1	181021489	181021489	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181021489A>C	ENST00000367580.5	+	4	728	c.723A>C	c.(721-723)gaA>gaC	p.E241D	MR1_ENST00000282990.6_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E196D	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	241	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.E241D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	AAAACGGGGAAGAAATTGTCC	0.448																																					p.E241D	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A723C	1						.						65.0	67.0	67.0					1																	181021489		2203	4300	6503	179288112	SO:0001583	missense	3140	exon5			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.723A>C	1.37:g.181021489A>C	ENSP00000356552:p.Glu241Asp		179288112	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224228	0.58668	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.03152	4.03;4.03	4.19	4.19	0.49359	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.233360	0.30528	N	0.009425	T	0.17109	0.0411	M	0.80422	2.495	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.986;0.992	T	0.00305	-1.1831	10	0.87932	D	0	.	11.2783	0.49180	1.0:0.0:0.0:0.0	.	196;241	Q95460-2;Q95460	.;HMR1_HUMAN	D	241;196	ENSP00000356552:E241D;ENSP00000356551:E196D	ENSP00000356551:E196D	E	+	3	2	MR1	179288112	0.998000	0.40836	0.999000	0.59377	0.803000	0.45373	2.478000	0.45189	1.763000	0.52060	0.533000	0.62120	GAA		0.448	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
CACNA1E	777	broad.mit.edu	37	1	181453006	181453006	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181453006G>A	ENST00000367573.2	+	1	126	c.126G>A	c.(124-126)acG>acA	p.T42T	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.T42T|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000526775.1_Silent_p.T42T|CACNA1E_ENST00000360108.3_Silent_p.T42T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	42					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T42T(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAAGCAGACGAAAGCACAGA	0.622																																					p.T42T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	1						.						64.0	72.0	69.0					1																	181453006		1892	4097	5989	179719629	SO:0001819	synonymous_variant	777	exon1			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.126G>A	1.37:g.181453006G>A			179719629	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181453096	181453096	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181453096C>T	ENST00000367573.2	+	1	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.F72F|CACNA1E_ENST00000357570.5_Silent_p.F23F|CACNA1E_ENST00000358338.5_Silent_p.F23F|CACNA1E_ENST00000526775.1_Silent_p.F72F|CACNA1E_ENST00000360108.3_Silent_p.F72F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	72					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F72F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTCATCTTCGGAGAAGATA	0.498																																					p.F72F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	1						.						169.0	173.0	172.0					1																	181453096		1913	4133	6046	179719719	SO:0001819	synonymous_variant	777	exon1			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.216C>T	1.37:g.181453096C>T			179719719	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181724430	181724430	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181724430T>C	ENST00000367573.2	+	28	3886	c.3886T>C	c.(3886-3888)Tac>Cac	p.Y1296H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.Y903H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y1296H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y1247H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y1228H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Y1277H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y1277H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1296					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.Y1296H(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTCATTGTGTACAAGCTCTT	0.478																																					p.Y1296H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3886C	1						.						221.0	208.0	212.0					1																	181724430		2028	4210	6238	179991053	SO:0001583	missense	777	exon28			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3886T>C	1.37:g.181724430T>C	ENSP00000356545:p.Tyr1296His		179991053	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686920	0.88639	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.83275	0.969;0.995;0.996	D	0.99679	1.0998	10	0.87932	D	0	.	14.8849	0.70560	0.0:0.0:0.0:1.0	.	1277;1296;1296	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	H	1296;1277;1247;1228;903;1277;1296	ENSP00000356542:Y1296H;ENSP00000434814:Y1277H;ENSP00000350183:Y1247H;ENSP00000351101:Y1228H;ENSP00000356539:Y903H;ENSP00000353222:Y1277H;ENSP00000356545:Y1296H	ENSP00000350183:Y1247H	Y	+	1	0	CACNA1E	179991053	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.894000	0.87336	1.998000	0.58463	0.528000	0.53228	TAC		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181759605	181759605	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:181759605G>T	ENST00000367573.2	+	44	5811	c.5811G>T	c.(5809-5811)tcG>tcT	p.S1937S	CACNA1E_ENST00000367567.4_Silent_p.S1544S|CACNA1E_ENST00000367570.1_Silent_p.S1937S|CACNA1E_ENST00000357570.5_Silent_p.S1888S|CACNA1E_ENST00000358338.5_Silent_p.S1869S|CACNA1E_ENST00000526775.1_Silent_p.S1918S|CACNA1E_ENST00000360108.3_Silent_p.S1918S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1937					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S1937S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATACCCTTCGATGAGTCCAC	0.532																																					p.S1937S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5811T	1						.						83.0	91.0	89.0					1																	181759605		1934	4123	6057	180026228	SO:0001819	synonymous_variant	777	exon44			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5811G>T	1.37:g.181759605G>T			180026228	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	CCDS55664.1																																																																																				0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
NPL	80896	broad.mit.edu	37	1	182775327	182775327	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:182775327C>T	ENST00000367553.1	+	4	234	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	NPL_ENST00000367552.2_Missense_Mutation_p.R64C|NPL_ENST00000367554.3_5'UTR|NPL_ENST00000367550.2_Missense_Mutation_p.R64C|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Missense_Mutation_p.R64C|NPL_ENST00000258317.2_Missense_Mutation_p.R64C	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	64					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.R64C(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						CTCAGAGCGTCGCCAGGTTGC	0.522																																					p.R64C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190T	1						.						117.0	116.0	116.0					1																	182775327		2203	4300	6503	181041950	SO:0001583	missense	80896	exon4			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.190C>T	1.37:g.182775327C>T	ENSP00000356524:p.Arg64Cys		181041950	NM_030769	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431700	0.43122	.	.	ENSG00000135838	ENST00000367555;ENST00000367553;ENST00000367552;ENST00000258317;ENST00000367550	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.26	3.35	0.38373	Aldolase-type TIM barrel (1);	0.298563	0.34906	N	0.003586	D	0.88768	0.6526	L	0.38175	1.15	0.40845	D	0.983702	B;B;B	0.17268	0.021;0.003;0.007	B;B;B	0.12156	0.004;0.001;0.007	T	0.81816	-0.0759	10	0.48119	T	0.1	-10.0271	4.6888	0.12771	0.1706:0.6414:0.0:0.188	.	64;64;64	Q9BXD5-4;Q9BXD5;Q9BXD5-3	.;NPL_HUMAN;.	C	64	ENSP00000356526:R64C;ENSP00000356524:R64C;ENSP00000356523:R64C;ENSP00000258317:R64C;ENSP00000356521:R64C	ENSP00000258317:R64C	R	+	1	0	NPL	181041950	1.000000	0.71417	0.717000	0.30585	0.907000	0.53573	1.694000	0.37752	0.576000	0.29452	0.563000	0.77884	CGC		0.522	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
DHX9	1660	broad.mit.edu	37	1	182841579	182841579	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:182841579C>A	ENST00000367549.3	+	15	1775	c.1665C>A	c.(1663-1665)ttC>ttA	p.F555L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	555	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.F555L(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGAATATTTCTTCAATTGCC	0.398																																					p.F555L	Colon(69;210 1162 3697 13559 39565)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1665A	1						.						221.0	188.0	198.0					1																	182841579		1854	4093	5947	181108202	SO:0001583	missense	1660	exon15			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1665C>A	1.37:g.182841579C>A	ENSP00000356520:p.Phe555Leu		181108202	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979006	0.92982	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.35605	1.3	6.08	6.08	0.98989	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.71920	2.185	0.80722	D	1	P	0.43662	0.814	P	0.45794	0.493	T	0.48547	-0.9026	10	0.59425	D	0.04	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	555	Q08211	DHX9_HUMAN	L	555	ENSP00000356520:F555L	ENSP00000356520:F555L	F	+	3	2	DHX9	181108202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.894000	0.99253	0.591000	0.81541	TTC		0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
SHCBP1L	81626	broad.mit.edu	37	1	182908441	182908441	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:182908441C>T	ENST00000367547.3	-	5	1182	c.946G>A	c.(946-948)Gag>Aag	p.E316K	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E197K	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	388								p.E316K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCAATGAGCTCGACACGTTTG	0.373																																					p.E316K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946A	1						.						89.0	83.0	85.0					1																	182908441		2203	4300	6503	181175064	SO:0001583	missense	81626	exon5			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.946G>A	1.37:g.182908441C>T	ENSP00000356518:p.Glu316Lys		181175064	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150910	0.57151	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.45276	0.9;0.93	4.97	4.97	0.65823	.	0.000000	0.56097	D	0.000028	T	0.56819	0.2011	L	0.56769	1.78	0.41741	D	0.989612	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.972;0.994;0.988	T	0.51545	-0.8692	10	0.11485	T	0.65	-21.274	15.1536	0.72723	0.0:1.0:0.0:0.0	.	388;197;316	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	K	316;385;197	ENSP00000356518:E316K;ENSP00000397308:E197K	ENSP00000287709:E385K	E	-	1	0	SHCBP1L	181175064	0.997000	0.39634	0.917000	0.36280	0.696000	0.40369	4.591000	0.61019	2.311000	0.77944	0.563000	0.77884	GAG		0.373	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
SHCBP1L	81626	broad.mit.edu	37	1	182909616	182909616	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:182909616C>T	ENST00000367547.3	-	3	854	c.618G>A	c.(616-618)gaG>gaA	p.E206E	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.E87E	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	278								p.E206E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AAGAAAAGGGCTCAGCAACAG	0.368																																					p.E206E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G618A	1						.						72.0	71.0	71.0					1																	182909616		2203	4300	6503	181176239	SO:0001819	synonymous_variant	81626	exon3			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.618G>A	1.37:g.182909616C>T			181176239	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	CCDS30955.1																																																																																				0.368	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
LAMC1	3915	broad.mit.edu	37	1	183086019	183086019	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183086019C>A	ENST00000258341.4	+	8	1802	c.1545C>A	c.(1543-1545)atC>atA	p.I515I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	515	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.I515I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TTTATTCTATCTCCTCTACCT	0.388																																					p.I515I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1545A	1						.						109.0	105.0	106.0					1																	183086019		2203	4300	6503	181352642	SO:0001819	synonymous_variant	3915	exon8			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1545C>A	1.37:g.183086019C>A			181352642	NM_002293	Q5VYE7	Silent	SNP	ENST00000258341.4	37	CCDS1351.1																																																																																				0.388	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183087279	183087279	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183087279G>T	ENST00000258341.4	+	11	2245	c.1988G>T	c.(1987-1989)aGa>aTa	p.R663I		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	663	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R663I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TACAGTGAGAGAAGTAAGTTA	0.353																																					p.R663I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1988T	1						.						80.0	84.0	83.0					1																	183087279		2203	4300	6503	181353902	SO:0001583	missense	3915	exon11			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1988G>T	1.37:g.183087279G>T	ENSP00000258341:p.Arg663Ile		181353902	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369082	0.82463	.	.	ENSG00000135862	ENST00000258341	T	0.37058	1.22	5.0	5.0	0.66597	Laminin B type IV (2);Laminin B, subgroup (1);	0.050042	0.85682	D	0.000000	T	0.54191	0.1843	L	0.52364	1.645	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	T	0.51647	-0.8679	10	0.41790	T	0.15	.	18.3307	0.90268	0.0:0.0:1.0:0.0	.	663	P11047	LAMC1_HUMAN	I	663	ENSP00000258341:R663I	ENSP00000258341:R663I	R	+	2	0	LAMC1	181353902	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.999000	0.49473	2.317000	0.78254	0.650000	0.86243	AGA		0.353	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183097840	183097840	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183097840G>A	ENST00000258341.4	+	18	3492	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1079	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1079K(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AAAGGAAGCAGAGAGGGAAGT	0.468																																					p.E1079K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3235A	1						.						141.0	117.0	125.0					1																	183097840		2203	4300	6503	181364463	SO:0001583	missense	3915	exon18			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3235G>A	1.37:g.183097840G>A	ENSP00000258341:p.Glu1079Lys		181364463	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420804	0.83559	.	.	ENSG00000135862	ENST00000258341	T	0.36699	1.24	5.81	4.88	0.63580	.	0.260859	0.42964	D	0.000622	T	0.40222	0.1108	M	0.63843	1.955	0.80722	D	1	B	0.24258	0.1	B	0.24541	0.054	T	0.31081	-0.9956	10	0.59425	D	0.04	.	16.7187	0.85404	0.0:0.1296:0.8704:0.0	.	1079	P11047	LAMC1_HUMAN	K	1079	ENSP00000258341:E1079K	ENSP00000258341:E1079K	E	+	1	0	LAMC1	181364463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.193000	0.77780	1.425000	0.47237	0.655000	0.94253	GAG		0.468	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183101654	183101654	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183101654T>G	ENST00000258341.4	+	21	3943	c.3686T>G	c.(3685-3687)aTt>aGt	p.I1229S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1229	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.I1229S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCATTTGAGATTGAAGAGCTT	0.403																																					p.I1229S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3686G	1						.						131.0	121.0	124.0					1																	183101654		2203	4300	6503	181368277	SO:0001583	missense	3915	exon21			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3686T>G	1.37:g.183101654T>G	ENSP00000258341:p.Ile1229Ser		181368277	NM_002293	Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393248	0.83011	.	.	ENSG00000135862	ENST00000258341	T	0.22134	1.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.45891	-0.9230	10	0.87932	D	0	.	15.3599	0.74464	0.0:0.0:0.0:1.0	.	1229	P11047	LAMC1_HUMAN	S	1229	ENSP00000258341:I1229S	ENSP00000258341:I1229S	I	+	2	0	LAMC1	181368277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.402000	0.79972	2.112000	0.64535	0.533000	0.62120	ATT		0.403	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC1	3915	broad.mit.edu	37	1	183106903	183106903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183106903G>T	ENST00000258341.4	+	26	4671	c.4414G>T	c.(4414-4416)Gaa>Taa	p.E1472*	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1472	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.E1472*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCAGGAAGCAGAAAAAGAGCT	0.428																																					p.E1472X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4414T	1						.						89.0	85.0	86.0					1																	183106903		2203	4300	6503	181373526	SO:0001587	stop_gained	3915	exon26			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4414G>T	1.37:g.183106903G>T	ENSP00000258341:p.Glu1472*		181373526	NM_002293	Q5VYE7	Nonsense_Mutation	SNP	ENST00000258341.4	37	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	46	12.402667	0.99664	.	.	ENSG00000135862	ENST00000258341	.	.	.	5.64	5.64	0.86602	.	0.095731	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7095	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	1472	.	ENSP00000258341:E1472X	E	+	1	0	LAMC1	181373526	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.810000	0.91950	2.647000	0.89833	0.655000	0.94253	GAA		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
LAMC2	3918	broad.mit.edu	37	1	183187559	183187559	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183187559G>A	ENST00000264144.4	+	4	504	c.439G>A	c.(439-441)Gca>Aca	p.A147T	LAMC2_ENST00000493293.1_Missense_Mutation_p.A147T	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	147	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.A147T(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCTGGCATCGCAGGGCCCTG	0.522																																					p.A147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	1						.						36.0	37.0	37.0					1																	183187559		2203	4300	6503	181454182	SO:0001583	missense	3918	exon4			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.439G>A	1.37:g.183187559G>A	ENSP00000264144:p.Ala147Thr		181454182	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	3.809	-0.040159	0.07497	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.61274	0.12;0.12	5.26	0.274	0.15654	EGF-like, laminin (3);Growth factor, receptor (1);	2.153060	0.02522	N	0.092689	T	0.26159	0.0638	N	0.02275	-0.615	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.06405	0.002;0.001	T	0.34551	-0.9824	10	0.02654	T	1	.	3.4714	0.07569	0.2549:0.0:0.2778:0.4673	.	147;147	Q13753;Q13753-2	LAMC2_HUMAN;.	T	147	ENSP00000432063:A147T;ENSP00000264144:A147T	ENSP00000264144:A147T	A	+	1	0	LAMC2	181454182	0.001000	0.12720	0.010000	0.14722	0.992000	0.81027	-0.271000	0.08572	-0.205000	0.10219	0.655000	0.94253	GCA		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
LAMC2	3918	broad.mit.edu	37	1	183195871	183195871	+	Missense_Mutation	SNP	C	C	T	rs552102778		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183195871C>T	ENST00000264144.4	+	9	1170	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	LAMC2_ENST00000493293.1_Missense_Mutation_p.R369C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	369	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.R369C(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTCAGCCCGCCCTGTCTC	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20652	0.0		0.0	False		,,,				2504	0.0				p.R369C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1105T	1						.						133.0	136.0	135.0					1																	183195871		2203	4300	6503	181462494	SO:0001583	missense	3918	exon9			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1105C>T	1.37:g.183195871C>T	ENSP00000264144:p.Arg369Cys		181462494	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059345	0.76074	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.40476	1.03;1.03	5.39	5.39	0.77823	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.082729	0.52532	D	0.000075	T	0.62011	0.2393	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.988;0.982	T	0.62020	-0.6942	10	0.54805	T	0.06	.	19.1486	0.93479	0.0:1.0:0.0:0.0	.	369;369;369	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	C	369	ENSP00000432063:R369C;ENSP00000264144:R369C	ENSP00000264144:R369C	R	+	1	0	LAMC2	181462494	0.967000	0.33354	1.000000	0.80357	0.715000	0.41141	4.207000	0.58480	2.512000	0.84698	0.549000	0.68633	CGC		0.498	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
LAMC2	3918	broad.mit.edu	37	1	183209467	183209467	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183209467A>G	ENST00000264144.4	+	22	3334	c.3269A>G	c.(3268-3270)aAc>aGc	p.N1090S	LAMC2_ENST00000493293.1_Missense_Mutation_p.N1090S|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1090	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.N1090S(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGCCAAGAACGCTGGGGTT	0.473																																					p.N1090S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3269G	1						.						126.0	106.0	113.0					1																	183209467		2203	4300	6503	181476090	SO:0001583	missense	3918	exon22			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3269A>G	1.37:g.183209467A>G	ENSP00000264144:p.Asn1090Ser		181476090	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	0.834	-0.744359	0.03065	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.76709	2.52;-1.04	5.59	2.11	0.27256	.	0.557133	0.19288	N	0.117999	T	0.57888	0.2084	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.0;0.002	T	0.34900	-0.9810	10	0.10111	T	0.7	.	7.5436	0.27753	0.6654:0.0:0.3346:0.0	.	1090;1090;1090	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	S	1090	ENSP00000432063:N1090S;ENSP00000264144:N1090S	ENSP00000264144:N1090S	N	+	2	0	LAMC2	181476090	0.923000	0.31300	0.258000	0.24420	0.054000	0.15201	0.603000	0.24149	0.429000	0.26202	0.533000	0.62120	AAC		0.473	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
NMNAT2	23057	broad.mit.edu	37	1	183262892	183262892	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183262892A>C	ENST00000287713.6	-	2	456	c.122T>G	c.(121-123)tTt>tGt	p.F41C	NMNAT2_ENST00000294868.4_Missense_Mutation_p.F36C	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	41					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.F41C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATCACAATAAACCTTCCAGT	0.463																																					p.F41C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T122G	1						.						104.0	94.0	98.0					1																	183262892		2203	4300	6503	181529515	SO:0001583	missense	23057	exon2			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.122T>G	1.37:g.183262892A>C	ENSP00000287713:p.Phe41Cys		181529515	NM_015039	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	ENST00000287713.6	37	CCDS1353.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545430	0.65198	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.96685	-4.09;-4.09	5.9	5.9	0.94986	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.052992	0.85682	D	0.000000	D	0.96972	0.9011	L	0.43923	1.385	0.80722	D	1	B;D	0.76494	0.411;0.999	B;D	0.79108	0.096;0.992	D	0.97329	0.9949	10	0.54805	T	0.06	-17.5391	15.1562	0.72743	1.0:0.0:0.0:0.0	.	41;36	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	C	41;36	ENSP00000287713:F41C;ENSP00000294868:F36C	ENSP00000287713:F41C	F	-	2	0	NMNAT2	181529515	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.120000	0.89581	2.251000	0.74343	0.528000	0.53228	TTT		0.463	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1		
SMG7	9887	broad.mit.edu	37	1	183519916	183519916	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183519916A>G	ENST00000347615.2	+	20	3133	c.3014A>G	c.(3013-3015)cAt>cGt	p.H1005R	SMG7_ENST00000508461.1_Missense_Mutation_p.H1013R|SMG7_ENST00000507469.1_Missense_Mutation_p.H1009R|SMG7_ENST00000515829.2_Missense_Mutation_p.H959R|SMG7_ENST00000367537.3_Missense_Mutation_p.H1038R|SMG7_ENST00000456731.2_Missense_Mutation_p.H917R	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1005	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.H1005R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGTCTCCTCATTCCTCTAAC	0.423																																					p.H1013R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3038G	1						.						123.0	118.0	120.0					1																	183519916		2203	4300	6503	181786539	SO:0001583	missense	9887	exon20			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3014A>G	1.37:g.183519916A>G	ENSP00000340766:p.His1005Arg		181786539	NM_001174061	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390046	0.82902	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.33654	1.44;1.47;1.41;1.52;1.4;1.41	5.45	5.45	0.79879	.	0.098510	0.64402	D	0.000001	T	0.48241	0.1489	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.63880	0.993;0.993;0.989;0.993;0.993	D;D;D;D;D	0.75020	0.977;0.977;0.985;0.977;0.977	T	0.44620	-0.9316	10	0.45353	T	0.12	-15.178	15.8223	0.78667	1.0:0.0:0.0:0.0	.	1013;917;959;1005;1009	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	R	917;1038;1013;1005;1009;959	ENSP00000407629:H917R;ENSP00000356507:H1038R;ENSP00000426915:H1013R;ENSP00000340766:H1005R;ENSP00000425133:H1009R;ENSP00000421358:H959R	ENSP00000340766:H1005R	H	+	2	0	SMG7	181786539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.451000	0.90343	2.188000	0.69820	0.528000	0.53228	CAT		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
APOBEC4	403314	broad.mit.edu	37	1	183617469	183617469	+	Missense_Mutation	SNP	G	G	T	rs189818313		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183617469G>T	ENST00000308641.4	-	2	719	c.448C>A	c.(448-450)Ctt>Att	p.L150I	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	150					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.L150I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TAAATACTAAGAGTGATGCCT	0.458																																					p.L150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448A	1						.						100.0	106.0	104.0					1																	183617469		2203	4300	6503	181884092	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.448C>A	1.37:g.183617469G>T	ENSP00000310622:p.Leu150Ile		181884092	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821159	0.50633	.	.	ENSG00000173627	ENST00000308641	T	0.72051	-0.62	5.0	4.05	0.47172	APOBEC-like, N-terminal (1);	0.000000	0.51477	D	0.000090	T	0.72676	0.3490	L	0.34521	1.04	0.34579	D	0.714243	D	0.55385	0.971	P	0.57548	0.823	T	0.81675	-0.0825	10	0.87932	D	0	-16.6803	14.0276	0.64594	0.0:0.0:0.8474:0.1526	.	150	Q8WW27	ABEC4_HUMAN	I	150	ENSP00000310622:L150I	ENSP00000310622:L150I	L	-	1	0	APOBEC4	181884092	1.000000	0.71417	0.954000	0.39281	0.547000	0.35210	4.436000	0.59948	1.046000	0.40249	0.655000	0.94253	CTT		0.458	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454	
RGL1	23179	broad.mit.edu	37	1	183853909	183853909	+	Missense_Mutation	SNP	G	G	A	rs141178460		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183853909G>A	ENST00000360851.3	+	7	966	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	RGL1_ENST00000536277.1_Missense_Mutation_p.R261Q|RGL1_ENST00000539189.1_Missense_Mutation_p.R263Q|RGL1_ENST00000304685.4_Missense_Mutation_p.R298Q			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	263	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R298Q(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ATTTGGTCTCGAAGGGATAAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19209	0.001		0.0	False		,,,				2504	0.0				p.R298Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893A	1						.	G	GLN/ARG	0,4406		0,0,2203	141.0	119.0	126.0		893	-6.0	0.5	1	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	RGL1	NM_015149.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	298/804	183853909	1,13005	2203	4300	6503	182120532	SO:0001583	missense	23179	exon8			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.788G>A	1.37:g.183853909G>A	ENSP00000354097:p.Arg263Gln		182120532	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	5.588	0.293350	0.10567	0.0	1.16E-4	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.26	-6.01	0.02199	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.583469	0.18200	N	0.148545	T	0.10208	0.0250	N	0.03608	-0.345	0.26494	N	0.974891	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.001;0.001	T	0.27938	-1.0059	10	0.02654	T	1	.	16.8486	0.85987	0.7052:0.0:0.2948:0.0	.	263;261;68;263;298	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	Q	298;298;261;68;263;263	ENSP00000303192:R298Q;ENSP00000356501:R298Q;ENSP00000438662:R261Q;ENSP00000354097:R263Q;ENSP00000437355:R263Q	ENSP00000303192:R298Q	R	+	2	0	RGL1	182120532	0.801000	0.28930	0.456000	0.27044	0.994000	0.84299	0.168000	0.16622	-1.128000	0.02922	-0.145000	0.13849	CGA		0.463	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
RGL1	23179	broad.mit.edu	37	1	183869368	183869368	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183869368G>A	ENST00000360851.3	+	11	1493	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RGL1_ENST00000536277.1_Missense_Mutation_p.E437K|RGL1_ENST00000539189.1_Intron|RGL1_ENST00000304685.4_Missense_Mutation_p.E474K			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	439	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E474K(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GGACTACATCGAGGTGAGTTC	0.512																																					p.E474K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1420A	1						.						160.0	108.0	126.0					1																	183869368		2203	4300	6503	182135991	SO:0001583	missense	23179	exon12			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1315G>A	1.37:g.183869368G>A	ENSP00000354097:p.Glu439Lys		182135991	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	18.92	3.724736	0.68959	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.08	4.16	0.48862	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.52266	1.64	0.80722	D	1	D;D;D;D	0.76494	0.999;0.971;0.999;0.999	D;P;D;D	0.81914	0.995;0.55;0.995;0.995	T	0.41233	-0.9520	10	0.14252	T	0.57	.	14.6875	0.69059	0.0:0.0:0.8535:0.1464	.	437;244;439;474	B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	K	474;474;437;244;439	ENSP00000303192:E474K;ENSP00000356501:E474K;ENSP00000438662:E437K;ENSP00000354097:E439K	ENSP00000303192:E474K	E	+	1	0	RGL1	182135991	1.000000	0.71417	0.968000	0.41197	0.660000	0.38997	8.969000	0.93411	1.344000	0.45657	0.655000	0.94253	GAG		0.512	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
RGL1	23179	broad.mit.edu	37	1	183895347	183895347	+	Missense_Mutation	SNP	G	G	A	rs200168009		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:183895347G>A	ENST00000360851.3	+	18	2406	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	RGL1_ENST00000536277.1_Missense_Mutation_p.R741H|RGL1_ENST00000539189.1_Missense_Mutation_p.R714H|RGL1_ENST00000304685.4_Missense_Mutation_p.R778H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	743					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R778H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GTGAAACTGCGTAGCCGGACC	0.498																																					p.R778H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2333A	1						.	G	HIS/ARG	0,4406		0,0,2203	92.0	87.0	88.0		2333	4.4	0.4	1		88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RGL1	NM_015149.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	778/804	183895347	1,13005	2203	4300	6503	182161970	SO:0001583	missense	23179	exon19			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2228G>A	1.37:g.183895347G>A	ENSP00000354097:p.Arg743His		182161970	NM_015149	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.170126	0.78452	0.0	1.16E-4	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.50277	0.76;0.76;0.77;0.77;0.75	5.37	4.45	0.53987	.	0.167388	0.52532	D	0.000065	T	0.54013	0.1832	L	0.27053	0.805	0.58432	D	0.999992	D;D;D;D	0.76494	0.999;0.983;0.983;0.983	D;P;P;P	0.72625	0.978;0.635;0.513;0.513	T	0.57219	-0.7849	10	0.59425	D	0.04	.	12.6926	0.56982	0.0:0.0:0.8346:0.1654	.	714;741;743;778	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	778;778;741;743;714	ENSP00000303192:R778H;ENSP00000356501:R778H;ENSP00000438662:R741H;ENSP00000354097:R743H;ENSP00000437355:R714H	ENSP00000303192:R778H	R	+	2	0	RGL1	182161970	1.000000	0.71417	0.358000	0.25811	0.882000	0.50991	7.051000	0.76627	1.354000	0.45846	0.650000	0.86243	CGT		0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
TSEN15	116461	broad.mit.edu	37	1	184041968	184041968	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:184041968C>A	ENST00000361641.1	+	5	582	c.503C>A	c.(502-504)tCt>tAt	p.S168Y	TSEN15_ENST00000533373.1_Missense_Mutation_p.F133L|TSEN15_ENST00000423085.2_Missense_Mutation_p.L121I	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	168					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)	p.S168Y(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						CAGAATATTTCTCTTAGAAGA	0.308																																					p.S168Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C503A	1						.						78.0	78.0	78.0					1																	184041968		2202	4298	6500	182308591	SO:0001583	missense	116461	exon5			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"""tRNA splicing endonuclease subunits"""	16791	protein-coding gene	gene with protein product		608756	"""chromosome 1 open reading frame 19"", ""tRNA splicing endonuclease 15 homolog (S. cerevisiae)"""	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.503C>A	1.37:g.184041968C>A	ENSP00000355299:p.Ser168Tyr		182308591	NM_052965	B4DKP0|Q9BZQ5	Missense_Mutation	SNP	ENST00000361641.1	37	CCDS1361.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.71|13.71|13.71	2.317697|2.317697|2.317697	0.40996|0.40996|0.40996	.|.|.	.|.|.	ENSG00000198860|ENSG00000198860|ENSG00000198860	ENST00000533373|ENST00000423085|ENST00000361641	T|T|T	0.28255|0.32515|0.36340	1.62|1.45|1.26	4.88|4.88|4.88	3.96|3.96|3.96	0.45880|0.45880|0.45880	.|.|.	.|.|0.382368	.|.|0.26601	.|.|N	.|.|0.023475	T|T|T	0.25232|0.25232|0.25232	0.0613|0.0613|0.0613	.|.|.	.|.|.	.|.|.	0.21105|0.21105|0.21105	N|N|N	0.999787|0.999787|0.999787	.|B|P	.|0.22604|0.44090	.|0.072|0.826	.|B|B	.|0.20384|0.38712	.|0.029|0.28	T|T|T	0.18935|0.18935|0.18935	-1.0321|-1.0321|-1.0321	6|8|9	0.87932|0.52906|0.48119	D|T|T	0|0.07|0.1	-9.7901|-9.7901|-9.7901	8.173|8.173|8.173	0.31266|0.31266|0.31266	0.0:0.895:0.0:0.105|0.0:0.895:0.0:0.105|0.0:0.895:0.0:0.105	.|.|.	.|121|168	.|B4DKP0|Q8WW01	.|.|SEN15_HUMAN	L|I|Y	133|121|168	ENSP00000436996:F133L|ENSP00000402002:L121I|ENSP00000355299:S168Y	ENSP00000436996:F133L|ENSP00000402002:L121I|ENSP00000355299:S168Y	F|L|S	+|+|+	3|1|2	2|0|0	TSEN15|TSEN15|TSEN15	182308591|182308591|182308591	0.991000|0.991000|0.991000	0.36638|0.36638|0.36638	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.871000|0.871000|0.871000	0.50021|0.50021|0.50021	1.945000|1.945000|1.945000	0.40273|0.40273|0.40273	2.631000|2.631000|2.631000	0.89168|0.89168|0.89168	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTC|TCT		0.308	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1		
EDEM3	80267	broad.mit.edu	37	1	184675862	184675862	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:184675862G>A	ENST00000318130.8	-	18	2384	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Silent_p.I663I	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	706	PA.				cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I663I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTATCAGTGCGATTTTTCCCA	0.433																																					p.I706I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2118T	1						.						171.0	122.0	139.0					1																	184675862		2203	4300	6503	182942485	SO:0001819	synonymous_variant	80267	exon18			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.2118C>T	1.37:g.184675862G>A			182942485	NM_025191	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	CCDS1363.2																																																																																				0.433	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191	
RNF2	6045	broad.mit.edu	37	1	185056762	185056762	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185056762G>A	ENST00000367510.3	+	2	365	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R26Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	26	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R26Q(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAGTTACAACGAACACCTCAG	0.383																																					p.R26Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G77A	1						.						106.0	99.0	101.0					1																	185056762		2203	4300	6503	183323385	SO:0001583	missense	6045	exon2			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.77G>A	1.37:g.185056762G>A	ENSP00000356480:p.Arg26Gln		183323385	NM_007212	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239350	0.79800	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T	0.21932	1.98;1.98	4.97	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.70716	0.97;0.583	T	0.18272	-1.0342	10	0.87932	D	0	-1.1738	13.3428	0.60555	0.0773:0.0:0.9226:0.0	.	26;26	B3KRH1;Q99496	.;RING2_HUMAN	Q	26	ENSP00000356480:R26Q;ENSP00000400722:R26Q	ENSP00000356479:R26Q	R	+	2	0	RNF2	183323385	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.990000	0.93510	1.218000	0.43458	0.591000	0.81541	CGA		0.383	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212	
RNF2	6045	broad.mit.edu	37	1	185069002	185069002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185069002C>T	ENST00000367510.3	+	6	1105	c.817C>T	c.(817-819)Cga>Tga	p.R273*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.R201*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	273					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R273*(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGAAGAACTTCGAAGCAAAGG	0.393																																					p.R273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C817T	1						.						93.0	93.0	93.0					1																	185069002		2203	4300	6503	183335625	SO:0001587	stop_gained	6045	exon6			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.817C>T	1.37:g.185069002C>T	ENSP00000356480:p.Arg273*		183335625	NM_007212	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	ENST00000367510.3	37	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879195	0.91740	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	.	.	.	5.83	4.9	0.64082	.	0.051265	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	0.3111	16.2201	0.82254	0.1339:0.8661:0.0:0.0	.	.	.	.	X	273;201	.	ENSP00000356479:R201X	R	+	1	2	RNF2	183335625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.403000	0.44530	1.429000	0.47314	0.650000	0.86243	CGA		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212	
TRMT1L	81627	broad.mit.edu	37	1	185094192	185094192	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185094192G>T	ENST00000367506.5	-	12	1911	c.1643C>A	c.(1642-1644)tCt>tAt	p.S548Y	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	548	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S548Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATGGTGAAGAGATTCAAATAG	0.348																																					p.S548Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1643A	1						.						100.0	99.0	99.0					1																	185094192		2203	4300	6503	183360815	SO:0001583	missense	81627	exon12			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1643C>A	1.37:g.185094192G>T	ENSP00000356476:p.Ser548Tyr		183360815	NM_030934	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162678	0.57368	.	.	ENSG00000121486	ENST00000367506;ENST00000458395	.	.	.	4.91	3.99	0.46301	.	0.103999	0.64402	D	0.000003	T	0.62502	0.2433	L	0.39898	1.24	0.80722	D	1	D	0.62365	0.991	P	0.57776	0.827	T	0.59883	-0.7370	9	0.29301	T	0.29	-10.5337	15.6427	0.77020	0.0:0.1377:0.8623:0.0	.	548	Q7Z2T5	TRM1L_HUMAN	Y	548;172	.	ENSP00000356476:S548Y	S	-	2	0	TRMT1L	183360815	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.551000	0.73909	1.180000	0.42898	0.585000	0.79938	TCT		0.348	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934	
SWT1	54823	broad.mit.edu	37	1	185143877	185143877	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185143877A>G	ENST00000367500.4	+	5	763	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	SWT1_ENST00000367501.3_Missense_Mutation_p.K200E	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	200								p.K200E(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CAATTCTGAAAAATGTGTCTT	0.343																																					p.K200E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A598G	1						.						45.0	51.0	49.0					1																	185143877		2195	4294	6489	183410500	SO:0001583	missense	54823	exon5			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.598A>G	1.37:g.185143877A>G	ENSP00000356470:p.Lys200Glu		183410500	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297430	0.23650	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.21191	2.02;2.02	5.46	2.67	0.31697	.	0.401227	0.23910	N	0.043360	T	0.12347	0.0300	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.38845	-0.9642	10	0.07482	T	0.82	.	4.7308	0.12964	0.5269:0.3427:0.1304:0.0	.	200	Q5T5J6	SWT1_HUMAN	E	200	ENSP00000356471:K200E;ENSP00000356470:K200E	ENSP00000356470:K200E	K	+	1	0	SWT1	183410500	0.954000	0.32549	0.838000	0.33150	0.639000	0.38242	1.090000	0.30902	0.213000	0.20722	0.374000	0.22700	AAA		0.343	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SWT1	54823	broad.mit.edu	37	1	185175836	185175836	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185175836T>G	ENST00000367500.4	+	13	2078	c.1913T>G	c.(1912-1914)tTa>tGa	p.L638*	SWT1_ENST00000367501.3_Nonsense_Mutation_p.L638*	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	638			L -> F (in dbSNP:rs2295950).					p.L638*(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTATTTGGATTAGTTATGGAA	0.318																																					p.L638X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1913G	1						.						71.0	74.0	73.0					1																	185175836		2202	4294	6496	183442459	SO:0001587	stop_gained	54823	exon13			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1913T>G	1.37:g.185175836T>G	ENSP00000356470:p.Leu638*		183442459	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Nonsense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	39	7.407702	0.98265	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	.	.	.	5.83	5.83	0.93111	.	0.370207	0.25481	N	0.030377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5559	0.45117	0.1439:0.0:0.0:0.8561	.	.	.	.	X	638	.	ENSP00000356470:L638X	L	+	2	0	SWT1	183442459	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.440000	0.35024	2.226000	0.72624	0.482000	0.46254	TTA		0.318	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SWT1	54823	broad.mit.edu	37	1	185191084	185191084	+	Missense_Mutation	SNP	C	C	T	rs374079943	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185191084C>T	ENST00000367500.4	+	15	2390	c.2225C>T	c.(2224-2226)tCg>tTg	p.S742L	SWT1_ENST00000367501.3_Missense_Mutation_p.S742L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	742								p.S742L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACTGTTTTCTCGAGTTCTCAT	0.378													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17525	0.0		0.0	False		,,,				2504	0.0				p.S742L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2225T	1						.	C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	160.0	169.0	166.0		2225,2225	2.8	0.0	1		166	0,8600		0,0,4300	no	missense,missense	SWT1	NM_017673.6,NM_001105518.1	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	742/901,742/901	185191084	1,13005	2203	4300	6503	183457707	SO:0001583	missense	54823	exon15			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2225C>T	1.37:g.185191084C>T	ENSP00000356470:p.Ser742Leu		183457707	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	0.930	-0.712905	0.03206	2.27E-4	0.0	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17528	2.27;2.27	5.43	2.77	0.32553	.	0.932048	0.09017	N	0.860683	T	0.07143	0.0181	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.38908	-0.9639	10	0.12103	T	0.63	.	8.2078	0.31465	0.0:0.6888:0.0:0.3112	.	742	Q5T5J6	SWT1_HUMAN	L	742	ENSP00000356471:S742L;ENSP00000356470:S742L	ENSP00000356470:S742L	S	+	2	0	SWT1	183457707	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.748000	0.26305	0.931000	0.37242	0.591000	0.81541	TCG		0.378	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
SWT1	54823	broad.mit.edu	37	1	185245771	185245771	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185245771T>G	ENST00000367500.4	+	18	2709	c.2544T>G	c.(2542-2544)atT>atG	p.I848M	SWT1_ENST00000367501.3_Missense_Mutation_p.I848M	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	848								p.I848M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCCAGGAAATTTATGATTGTG	0.303																																					p.I848M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2544G	1						.						58.0	67.0	64.0					1																	185245771		2202	4293	6495	183512394	SO:0001583	missense	54823	exon18			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2544T>G	1.37:g.185245771T>G	ENSP00000356470:p.Ile848Met		183512394	NM_001105518	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157443	0.38119	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.42513	0.97;0.97	5.98	2.37	0.29283	.	0.328436	0.29767	N	0.011256	T	0.18923	0.0454	N	0.08118	0	0.19300	N	0.999972	B	0.12013	0.005	B	0.11329	0.006	T	0.16041	-1.0416	10	0.72032	D	0.01	.	2.5206	0.04679	0.1434:0.0821:0.1732:0.6012	.	848	Q5T5J6	SWT1_HUMAN	M	848	ENSP00000356471:I848M;ENSP00000356470:I848M	ENSP00000356470:I848M	I	+	3	3	SWT1	183512394	0.995000	0.38212	0.994000	0.49952	0.970000	0.65996	-0.008000	0.12788	0.153000	0.19213	0.528000	0.53228	ATT		0.303	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
IVNS1ABP	10625	broad.mit.edu	37	1	185267182	185267182	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185267182C>A	ENST00000367498.3	-	15	2536	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.K420N	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	638					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.K638N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACTGGAAAATCTTTGTATAGG	0.393																																					p.K638N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1914T	1						.						95.0	101.0	99.0					1																	185267182		2203	4300	6503	183533805	SO:0001583	missense	10625	exon15			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1914G>T	1.37:g.185267182C>A	ENSP00000356468:p.Lys638Asn		183533805	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911286	0.33721	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.77358	-1.09;-0.6	5.37	4.44	0.53790	.	0.400085	0.30667	N	0.009140	T	0.63438	0.2511	N	0.24115	0.695	0.37522	D	0.917578	B;B	0.16396	0.002;0.017	B;B	0.19666	0.004;0.026	T	0.65051	-0.6262	10	0.66056	D	0.02	.	8.2079	0.31467	0.0:0.7209:0.1531:0.126	.	420;638	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	N	638;420	ENSP00000356468:K638N;ENSP00000375864:K420N	ENSP00000356468:K638N	K	-	3	2	IVNS1ABP	183533805	0.963000	0.33076	1.000000	0.80357	0.991000	0.79684	0.070000	0.14573	2.673000	0.90976	0.557000	0.71058	AAG		0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
IVNS1ABP	10625	broad.mit.edu	37	1	185269663	185269663	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185269663C>T	ENST00000367498.3	-	11	1770	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R165Q	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	383					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.R383Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTCGACTGTTCGAAGACATTC	0.398																																					p.R383Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1148A	1						.						126.0	129.0	128.0					1																	185269663		2203	4300	6503	183536286	SO:0001583	missense	10625	exon11			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1148G>A	1.37:g.185269663C>T	ENSP00000356468:p.Arg383Gln		183536286	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676711	0.88445	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.78481	-1.18;-1.18	5.76	4.86	0.63082	Galactose oxidase, beta-propeller (1);	0.051731	0.85682	N	0.000000	T	0.81716	0.4881	L	0.37697	1.125	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65874	0.939;0.936;0.919	T	0.82057	-0.0646	10	0.45353	T	0.12	.	15.0675	0.72008	0.0:0.9322:0.0:0.0678	.	165;84;383	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	Q	383;165	ENSP00000356468:R383Q;ENSP00000375864:R165Q	ENSP00000356468:R383Q	R	-	2	0	IVNS1ABP	183536286	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.966000	0.70395	1.443000	0.47586	-0.119000	0.15052	CGA		0.398	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
IVNS1ABP	10625	broad.mit.edu	37	1	185277942	185277942	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185277942C>T	ENST00000367498.3	-	5	969	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.R116Q|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	116					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.R116Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTGCTTTACTCGATCCATCTT	0.303																																					p.R116Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	1						.						168.0	164.0	166.0					1																	185277942		2203	4300	6503	183544565	SO:0001583	missense	10625	exon5			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.347G>A	1.37:g.185277942C>T	ENSP00000356468:p.Arg116Gln		183544565	NM_006469	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083854	0.94050	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.68903	-0.36;-0.36	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76200	-0.3046	10	0.32370	T	0.25	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	116	Q9Y6Y0	NS1BP_HUMAN	Q	116	ENSP00000356468:R116Q;ENSP00000356467:R116Q	ENSP00000356467:R116Q	R	-	2	0	IVNS1ABP	183544565	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.711000	0.84669	2.789000	0.95967	0.591000	0.81541	CGA		0.303	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469	
HMCN1	83872	broad.mit.edu	37	1	185947090	185947090	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:185947090G>T	ENST00000271588.4	+	16	2772	c.2543G>T	c.(2542-2544)aGa>aTa	p.R848I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R848I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	848	Ig-like C2-type 5.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R848I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCAACTAAGAACAGGAGCT	0.318																																					p.R848I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2543T	1						.						90.0	92.0	91.0					1																	185947090		2203	4300	6503	184213713	SO:0001583	missense	83872	exon16			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2543G>T	1.37:g.185947090G>T	ENSP00000271588:p.Arg848Ile		184213713	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589381	0.66105	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.89	0.476	0.16779	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342530	0.35525	N	0.003145	T	0.64249	0.2581	N	0.25825	0.765	0.43364	D	0.995449	P;D	0.89917	0.899;1.0	P;D	0.85130	0.509;0.997	T	0.58323	-0.7656	10	0.31617	T	0.26	.	6.0392	0.19724	0.2683:0.3463:0.3854:0.0	.	232;848	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	848	ENSP00000271588:R848I;ENSP00000356462:R848I	ENSP00000271588:R848I	R	+	2	0	HMCN1	184213713	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	1.551000	0.36233	0.096000	0.17463	-0.140000	0.14226	AGA		0.318	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186023026	186023026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186023026C>A	ENST00000271588.4	+	44	6999	c.6770C>A	c.(6769-6771)tCa>tAa	p.S2257*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S2257*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2257	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S2257*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTACAAATTTCAATTGCTGAA	0.428																																					p.S2257X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6770A	1						.						95.0	96.0	96.0					1																	186023026		2203	4300	6503	184289649	SO:0001587	stop_gained	83872	exon44			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6770C>A	1.37:g.186023026C>A	ENSP00000271588:p.Ser2257*		184289649	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	48	14.611578	0.99803	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	4.77	4.77	0.60923	.	0.123332	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	11.6566	0.51322	0.0:0.9174:0.0:0.0826	.	.	.	.	X	2257	.	ENSP00000271588:S2257X	S	+	2	0	HMCN1	184289649	1.000000	0.71417	0.949000	0.38748	0.634000	0.38068	4.720000	0.61944	2.349000	0.79799	0.404000	0.27445	TCA		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186088326	186088326	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186088326C>T	ENST00000271588.4	+	78	12081	c.11852C>T	c.(11851-11853)gCa>gTa	p.A3951V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3951V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3951	Ig-like C2-type 38.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A3951V(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTTAGGAGCAATTGAAATA	0.363																																					p.A3951V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11852T	1						.						76.0	75.0	76.0					1																	186088326		2203	4300	6503	184354949	SO:0001583	missense	83872	exon78			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11852C>T	1.37:g.186088326C>T	ENSP00000271588:p.Ala3951Val		184354949	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866374	0.51588	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67171	-0.25;-0.25	5.44	5.44	0.79542	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.350254	0.33496	N	0.004859	T	0.52224	0.1721	L	0.31157	0.91	0.09310	N	0.999998	P	0.44946	0.846	B	0.41946	0.371	T	0.47983	-0.9074	10	0.23891	T	0.37	.	9.2806	0.37727	0.0:0.7773:0.1464:0.0763	.	3951	Q96RW7	HMCN1_HUMAN	V	3951	ENSP00000271588:A3951V;ENSP00000356462:A3951V	ENSP00000271588:A3951V	A	+	2	0	HMCN1	184354949	0.027000	0.19231	0.982000	0.44146	0.978000	0.69477	2.525000	0.45598	2.563000	0.86464	0.585000	0.79938	GCA		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186097328	186097328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186097328C>A	ENST00000271588.4	+	83	13038	c.12809C>A	c.(12808-12810)tCa>tAa	p.S4270*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S4270*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4270	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S4270*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAGACGTGTCATTAAATAAA	0.413																																					p.S4270X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C12809A	1						.						117.0	105.0	109.0					1																	186097328		2203	4300	6503	184363951	SO:0001587	stop_gained	83872	exon83			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12809C>A	1.37:g.186097328C>A	ENSP00000271588:p.Ser4270*		184363951	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	55	24.041056	0.99958	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.36	5.36	0.76844	.	0.171002	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3837	0.60783	0.0:0.9244:0.0:0.0756	.	.	.	.	X	4270	.	ENSP00000271588:S4270X	S	+	2	0	HMCN1	184363951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.757000	0.68766	2.502000	0.84385	0.585000	0.79938	TCA		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186106697	186106697	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186106697A>C	ENST00000271588.4	+	88	13879	c.13650A>C	c.(13648-13650)caA>caC	p.Q4550H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q4550H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4550	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.Q4550H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGGCATCCAAAAGAGGAGTC	0.478																																					p.Q4550H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13650C	1						.						71.0	71.0	71.0					1																	186106697		2203	4300	6503	184373320	SO:0001583	missense	83872	exon88			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13650A>C	1.37:g.186106697A>C	ENSP00000271588:p.Gln4550His		184373320	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887612	0.72410	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.57752	0.38;0.38	5.78	-2.49	0.06403	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.79011	2.435	0.48288	D	0.999625	D	0.89917	1.0	D	0.91635	0.999	T	0.65471	-0.6160	10	0.52906	T	0.07	.	11.8055	0.52152	0.5454:0.0:0.4546:0.0	.	4550	Q96RW7	HMCN1_HUMAN	H	4550	ENSP00000271588:Q4550H;ENSP00000356462:Q4550H	ENSP00000271588:Q4550H	Q	+	3	2	HMCN1	184373320	0.988000	0.35896	0.930000	0.37139	0.974000	0.67602	0.198000	0.17217	-0.840000	0.04206	-0.417000	0.06048	CAA		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186134248	186134248	+	Missense_Mutation	SNP	C	C	T	rs536109375		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186134248C>T	ENST00000271588.4	+	98	15491	c.15262C>T	c.(15262-15264)Cgc>Tgc	p.R5088C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5088C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5088	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R5088C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTAGGAGATCGCAGTAATCA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19640	0.0		0.0	False		,,,				2504	0.001				p.R5088C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15262T	1						.						162.0	157.0	159.0					1																	186134248		2203	4300	6503	184400871	SO:0001583	missense	83872	exon98			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15262C>T	1.37:g.186134248C>T	ENSP00000271588:p.Arg5088Cys		184400871	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038807	0.75617	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64991	-0.12;-0.13	5.27	4.23	0.50019	G2 nidogen/fibulin G2F (1);	0.157320	0.53938	D	0.000044	T	0.64316	0.2587	L	0.36672	1.1	0.58432	D	0.99999	D	0.76494	0.999	P	0.56088	0.791	T	0.66168	-0.5991	10	0.54805	T	0.06	.	13.7068	0.62644	0.1983:0.8017:0.0:0.0	.	5088	Q96RW7	HMCN1_HUMAN	C	5088	ENSP00000271588:R5088C;ENSP00000356462:R5088C	ENSP00000271588:R5088C	R	+	1	0	HMCN1	184400871	0.964000	0.33143	0.999000	0.59377	0.996000	0.88848	2.531000	0.45650	2.621000	0.88768	0.655000	0.94253	CGC		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PRG4	10216	broad.mit.edu	37	1	186270758	186270758	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186270758C>T	ENST00000445192.2	+	4	279	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PRG4_ENST00000367485.4_Silent_p.F78F|PRG4_ENST00000367486.3_Silent_p.F78F|PRG4_ENST00000367483.4_Silent_p.F37F|PRG4_ENST00000367484.3_Silent_p.F37F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	78	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.F78F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTGAGTCCTTCGAGAGAGGGA	0.478																																					p.F78F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234T	1						.						144.0	132.0	136.0					1																	186270758		2203	4300	6503	184537381	SO:0001819	synonymous_variant	10216	exon4			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.234C>T	1.37:g.186270758C>T			184537381	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.478	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
PRG4	10216	broad.mit.edu	37	1	186280685	186280685	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186280685T>G	ENST00000445192.2	+	10	3795	c.3750T>G	c.(3748-3750)gcT>gcG	p.A1250A	RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Silent_p.A1157A|PRG4_ENST00000367486.3_Silent_p.A1207A|PRG4_ENST00000367483.4_Silent_p.A1209A|PRG4_ENST00000367484.3_Silent_p.A779A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1250					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A1250A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTCAACAGCTAAATATAAGA	0.358																																					p.A1157A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3471G	1						.						72.0	79.0	77.0					1																	186280685		2203	4300	6503	184547308	SO:0001819	synonymous_variant	10216	exon8			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3750T>G	1.37:g.186280685T>G			184547308	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.358	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
TPR	7175	broad.mit.edu	37	1	186291462	186291462	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186291462G>T	ENST00000367478.4	-	45	6745	c.6449C>A	c.(6448-6450)gCt>gAt	p.A2150D		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2150					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A2137D(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AATTGCTTCAGCAAATCCATC	0.328			T	NTRK1	papillary thyroid																																p.A2150D			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6449A	1						.						90.0	84.0	85.0					1																	186291462		1867	4105	5972	184558085	SO:0001583	missense	7175	exon45			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6449C>A	1.37:g.186291462G>T	ENSP00000356448:p.Ala2150Asp		184558085	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466337	0.43839	.	.	ENSG00000047410	ENST00000367478	T	0.25912	1.77	5.43	4.51	0.55191	.	0.056069	0.64402	D	0.000001	T	0.26666	0.0652	L	0.60455	1.87	0.47819	D	0.999525	B	0.02656	0.0	B	0.06405	0.002	T	0.06661	-1.0814	10	0.15952	T	0.53	.	16.2304	0.82332	0.0:0.1331:0.8669:0.0	.	2150	P12270	TPR_HUMAN	D	2150	ENSP00000356448:A2150D	ENSP00000356448:A2150D	A	-	2	0	TPR	184558085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.913000	0.56394	1.268000	0.44264	0.650000	0.86243	GCT		0.328	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186312586	186312586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186312586C>A	ENST00000367478.4	-	27	3918	c.3622G>T	c.(3622-3624)Gaa>Taa	p.E1208*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1208					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E1209*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCAGCAATTTCTTTTTCTCGT	0.348			T	NTRK1	papillary thyroid																																p.E1208X			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3622T	1						.						82.0	76.0	78.0					1																	186312586		1876	4103	5979	184579209	SO:0001587	stop_gained	7175	exon27			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3622G>T	1.37:g.186312586C>A	ENSP00000356448:p.Glu1208*		184579209	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	45	11.841169	0.99609	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.05	5.05	0.67936	.	0.153299	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.4082	0.90542	0.0:1.0:0.0:0.0	.	.	.	.	X	1208	.	ENSP00000356448:E1208X	E	-	1	0	TPR	184579209	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.725000	0.68507	2.362000	0.80069	0.549000	0.68633	GAA		0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186313687	186313687	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186313687C>A	ENST00000367478.4	-	25	3533	c.3237G>T	c.(3235-3237)caG>caT	p.Q1079H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1079					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q1080H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CATACTTATTCTGAGCTTCCA	0.383			T	NTRK1	papillary thyroid																																p.Q1079H			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3237T	1						.						112.0	103.0	106.0					1																	186313687		1896	4123	6019	184580310	SO:0001583	missense	7175	exon25			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3237G>T	1.37:g.186313687C>A	ENSP00000356448:p.Gln1079His		184580310	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588436	0.66105	.	.	ENSG00000047410	ENST00000367478	T	0.33438	1.41	5.42	4.51	0.55191	Tetratricopeptide, MLP1/MLP2-like (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.73962	2.25	0.51482	D	0.999928	D	0.76494	0.999	D	0.87578	0.998	T	0.58679	-0.7594	10	0.54805	T	0.06	.	14.0065	0.64468	0.0:0.927:0.0:0.073	.	1079	P12270	TPR_HUMAN	H	1079	ENSP00000356448:Q1079H	ENSP00000356448:Q1079H	Q	-	3	2	TPR	184580310	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.709000	0.25734	1.295000	0.44724	0.555000	0.69702	CAG		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186324609	186324609	+	Nonsense_Mutation	SNP	C	C	A	rs554995748		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186324609C>A	ENST00000367478.4	-	17	2400	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	702					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E703*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTAACTTGTTCTTGAAGTTTC	0.294			T	NTRK1	papillary thyroid																																p.E702X			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2104T	1						.						134.0	122.0	125.0					1																	186324609		1799	4066	5865	184591232	SO:0001587	stop_gained	7175	exon17			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2104G>T	1.37:g.186324609C>A	ENSP00000356448:p.Glu702*		184591232	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	42	9.301186	0.99130	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.11	4.2	0.49525	.	0.452778	0.24755	N	0.035867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.8197	0.63313	0.0:0.9256:0.0:0.0744	.	.	.	.	X	702	.	ENSP00000356448:E702X	E	-	1	0	TPR	184591232	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	5.678000	0.68153	1.297000	0.44761	0.591000	0.81541	GAA		0.294	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186327736	186327736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186327736G>T	ENST00000367478.4	-	13	1732	c.1436C>A	c.(1435-1437)tCa>tAa	p.S479*	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	479	Necessary for association to the NPC.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S480*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGTACAGATGATTGCTTGTT	0.318			T	NTRK1	papillary thyroid																																p.S479X			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1436A	1						.						203.0	185.0	191.0					1																	186327736		1890	4126	6016	184594359	SO:0001587	stop_gained	7175	exon13			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1436C>A	1.37:g.186327736G>T	ENSP00000356448:p.Ser479*		184594359	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	41	8.652887	0.98901	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.24	5.24	0.73138	.	0.139770	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	18.8241	0.92109	0.0:0.0:1.0:0.0	.	.	.	.	X	479	.	ENSP00000356448:S479X	S	-	2	0	TPR	184594359	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.593000	0.82686	2.469000	0.83416	0.650000	0.86243	TCA		0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PTGS2	5743	broad.mit.edu	37	1	186645252	186645252	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186645252C>T	ENST00000367468.5	-	8	1171	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	345					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.L345L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GGTCAAATTTCAGTTTGAAGT	0.353																																					p.L345L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1035A	1						.						129.0	131.0	130.0					1																	186645252		2203	4300	6503	184911875	SO:0001819	synonymous_variant	5743	exon8			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1035G>A	1.37:g.186645252C>T			184911875	NM_000963	A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																				0.353	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	
PTGS2	5743	broad.mit.edu	37	1	186646898	186646898	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186646898G>T	ENST00000367468.5	-	5	658	c.522C>A	c.(520-522)atC>atA	p.I174I	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	174					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.I174I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GGGGATCAGGGATGAACTTTC	0.413																																					p.I174I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C522A	1						.						104.0	104.0	104.0					1																	186646898		2203	4300	6503	184913521	SO:0001819	synonymous_variant	5743	exon5			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.522C>A	1.37:g.186646898G>T			184913521	NM_000963	A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	CCDS1371.1																																																																																				0.413	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963	
IGSF21	84966	broad.mit.edu	37	1	18688676	18688676	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:18688676G>A	ENST00000251296.1	+	5	875	c.492G>A	c.(490-492)caG>caA	p.Q164Q		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	164						extracellular region (GO:0005576)		p.Q164Q(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ACCAAGCCCAGAACTTCACGC	0.602																																					p.Q164Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	1						.						73.0	65.0	67.0					1																	18688676		2203	4300	6503	18561263	SO:0001819	synonymous_variant	84966	exon5			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.492G>A	1.37:g.18688676G>A			18561263	NM_032880	Q8NBR8	Silent	SNP	ENST00000251296.1	37	CCDS184.1	.	.	.	.	.	.	.	.	.	.	G	9.124	1.009722	0.19277	.	.	ENSG00000117154	ENST00000412684	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	T	0.71626	0.3362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71417	-0.4599	4	.	.	.	-9.438	16.2704	0.82616	0.0:0.0:1.0:0.0	.	.	.	.	K	117	.	.	E	+	1	0	IGSF21	18561263	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.129000	0.77225	2.271000	0.75665	0.491000	0.48974	GAA		0.602	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880	
PLA2G4A	5321	broad.mit.edu	37	1	186919851	186919851	+	Missense_Mutation	SNP	G	G	A	rs200911298	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:186919851G>A	ENST00000367466.3	+	13	1479	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E383K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	443	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.E443K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TGAATCACACGAACCCAAAGG	0.393													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15506	0.0		0.001	False		,,,				2504	0.0				p.E443K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1327A	1						.						60.0	57.0	58.0					1																	186919851		2203	4300	6503	185186474	SO:0001583	missense	5321	exon13			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1327G>A	1.37:g.186919851G>A	ENSP00000356436:p.Glu443Lys		185186474	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014773	0.19355	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.10960	2.82;2.82	6.07	6.07	0.98685	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.411866	0.30979	N	0.008488	T	0.04543	0.0124	N	0.02539	-0.55	0.28325	N	0.922033	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.06625	T	0.88	-6.5997	15.8546	0.78968	0.0:0.1446:0.8554:0.0	.	383;443	E7EU42;P47712	.;PA24A_HUMAN	K	443;383	ENSP00000356436:E443K;ENSP00000406892:E383K	ENSP00000356436:E443K	E	+	1	0	PLA2G4A	185186474	0.844000	0.29557	0.967000	0.41034	0.489000	0.33432	2.286000	0.43496	2.885000	0.99019	0.655000	0.94253	GAA		0.393	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
BRINP3	339479	broad.mit.edu	37	1	190203515	190203515	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:190203515C>A	ENST00000367462.3	-	5	942	c.711G>T	c.(709-711)aaG>aaT	p.K237N	BRINP3_ENST00000534846.1_Missense_Mutation_p.K135N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	237	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.K237N(1)									GCAACTGAATCTTATTCTCAG	0.378																																					p.K237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G711T	1						.						111.0	102.0	105.0					1																	190203515		2203	4300	6503	188470138	SO:0001583	missense	339479	exon5			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.711G>T	1.37:g.190203515C>A	ENSP00000356432:p.Lys237Asn		188470138	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795924	0.50208	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25250	2.06;1.81	5.87	4.95	0.65309	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.69358	2.11	0.54753	D	0.999989	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.49476	-0.8936	10	0.87932	D	0	.	11.9139	0.52755	0.0:0.9145:0.0:0.0855	.	135;237	B7Z260;Q76B58	.;FAM5C_HUMAN	N	237;135	ENSP00000356432:K237N;ENSP00000438022:K135N	ENSP00000356432:K237N	K	-	3	2	FAM5C	188470138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.984000	0.40658	1.455000	0.47813	0.650000	0.86243	AAG		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
PAX7	5081	broad.mit.edu	37	1	19062434	19062434	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19062434C>A	ENST00000375375.3	+	8	2062	c.1464C>A	c.(1462-1464)tcC>tcA	p.S488S	PAX7_ENST00000400661.3_Silent_p.S486S|PAX7_ENST00000420770.2_Intron	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	488					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S488S(1)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCAGGGCCTCCTGCTTGTTTA	0.577			T	FOXO1A	alveolar rhabdomyosarcoma																																p.S486S			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458A	1						.						35.0	34.0	35.0					1																	19062434		2203	4300	6503	18935021	SO:0001819	synonymous_variant	5081	exon8			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1464C>A	1.37:g.19062434C>A			18935021	NM_013945	E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	CCDS186.1																																																																																				0.577	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584	
TAS1R2	80834	broad.mit.edu	37	1	19166654	19166654	+	Missense_Mutation	SNP	G	G	T	rs201114108		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19166654G>T	ENST00000375371.3	-	6	1980	c.1959C>A	c.(1957-1959)ttC>ttA	p.F653L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	653					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.F653L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGACGATCTGGAAAGAACGCA	0.612																																					p.F653L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1959A	1						.						123.0	126.0	125.0					1																	19166654		2203	4300	6503	19039241	SO:0001583	missense	80834	exon6				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1959C>A	1.37:g.19166654G>T	ENSP00000364520:p.Phe653Leu		19039241	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672455	0.29693	.	.	ENSG00000179002	ENST00000375371	D	0.87334	-2.24	5.22	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.000000	0.53938	D	0.000043	D	0.90239	0.6948	M	0.76433	2.335	0.41365	D	0.987455	D	0.65815	0.995	D	0.67382	0.951	D	0.88363	0.2989	10	0.02654	T	1	.	11.8638	0.52482	0.086:0.0:0.914:0.0	.	653	Q8TE23	TS1R2_HUMAN	L	653	ENSP00000364520:F653L	ENSP00000364520:F653L	F	-	3	2	TAS1R2	19039241	0.998000	0.40836	1.000000	0.80357	0.146000	0.21551	1.837000	0.39201	1.212000	0.43366	-0.224000	0.12420	TTC		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
ALDH4A1	8659	broad.mit.edu	37	1	19202928	19202928	+	Missense_Mutation	SNP	C	C	T	rs145334067		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19202928C>T	ENST00000375341.3	-	12	1476	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A407T|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.A347T|ALDH4A1_ENST00000538839.1_Intron	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	407					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)	p.A407T(1)		cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGCGTGCGTGCTCCAGC	0.637																																					p.A407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	1						.						41.0	28.0	32.0					1																	19202928		2202	4300	6502	19075515	SO:0001583	missense	8659	exon12			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1219G>A	1.37:g.19202928C>T	ENSP00000364490:p.Ala407Thr		19075515	NM_170726	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862863	0.91511	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538309	T;T;T	0.80304	-1.36;-1.36;-1.36	4.88	3.75	0.43078	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.219657	0.45867	D	0.000330	D	0.90621	0.7059	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	D	0.92504	0.6011	10	0.87932	D	0	-31.7548	12.8155	0.57663	0.0:0.903:0.0:0.097	.	407	P30038	AL4A1_HUMAN	T	407;407;347	ENSP00000290597:A407T;ENSP00000364490:A407T;ENSP00000442988:A347T	ENSP00000290597:A407T	A	-	1	0	ALDH4A1	19075515	1.000000	0.71417	0.934000	0.37439	0.900000	0.52787	4.410000	0.59774	2.278000	0.76064	0.561000	0.74099	GCA		0.637	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1		
BRINP3	339479	broad.mit.edu	37	1	190250796	190250796	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:190250796G>T	ENST00000367462.3	-	3	552	c.321C>A	c.(319-321)ttC>ttA	p.F107L	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	107	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.F107L(1)									TGTTGCGGAAGAATTCAGGGG	0.433																																					p.F107L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C321A	1						.						88.0	84.0	85.0					1																	190250796		2203	4300	6503	188517419	SO:0001583	missense	339479	exon3			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.321C>A	1.37:g.190250796G>T	ENSP00000356432:p.Phe107Leu		188517419	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013540	0.93346	.	.	ENSG00000162670	ENST00000367462	D	0.89552	-2.53	5.88	4.96	0.65561	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.71581	2.175	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.93010	0.6431	10	0.87932	D	0	.	12.0373	0.53433	0.0826:0.0:0.9174:0.0	.	107	Q76B58	FAM5C_HUMAN	L	107	ENSP00000356432:F107L	ENSP00000356432:F107L	F	-	3	2	FAM5C	188517419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.437000	0.52863	2.787000	0.95880	0.585000	0.79938	TTC		0.433	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
CFAP74	85452	broad.mit.edu	37	1	1920015	1920015	+	Missense_Mutation	SNP	G	G	A	rs199576325		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:1920015G>A	ENST00000434971.2	-	4	264	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W				Q69YW0	CA222_HUMAN		0								p.R78W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGTTCTGCCGCAGGTGAAAT	0.502																																					p.R78W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232T	1						.						110.0	117.0	115.0					1																	1920015		2052	4193	6245	1909875	SO:0001583	missense	85452	exon4																														ENST00000434971.2:c.232C>T	1.37:g.1920015G>A	ENSP00000408078:p.Arg78Trp		1909875	NM_001080484		Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	G	13.89	2.373030	0.42105	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.65549	-0.16;-0.12	3.89	0.178	0.15058	.	0.222162	0.25529	N	0.030045	T	0.73009	0.3532	M	0.67953	2.075	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64980	-0.6279	10	0.87932	D	0	-20.8805	10.3702	0.44049	0.0:0.0:0.354:0.646	.	78;78	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	W	78;69;78	ENSP00000367853:R69W;ENSP00000408078:R78W	ENSP00000270720:R78W	R	-	1	2	C1orf222	1909875	0.002000	0.14202	0.014000	0.15608	0.012000	0.07955	-0.007000	0.12810	-0.073000	0.12842	-0.493000	0.04662	CGG		0.502	C1orf222-201	KNOWN	basic	protein_coding	protein_coding			
RGS13	6003	broad.mit.edu	37	1	192628481	192628481	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:192628481G>T	ENST00000391995.2	+	7	596	c.308G>T	c.(307-309)aGt>aTt	p.S103I	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.S103I	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	103	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S103I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AACATTGACAGTTCGACAAGA	0.343																																					p.S103I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308T	1						.						105.0	85.0	92.0					1																	192628481		2203	4300	6503	190895104	SO:0001583	missense	6003	exon6			AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.308G>T	1.37:g.192628481G>T	ENSP00000375853:p.Ser103Ile		190895104	NM_144766	Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434448	0.25813	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.02103	4.45;4.45	5.69	3.82	0.43975	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.343203	0.37715	N	0.001978	T	0.12860	0.0312	M	0.86268	2.805	0.28424	N	0.917575	D	0.69078	0.997	D	0.69307	0.963	T	0.02398	-1.1165	10	0.54805	T	0.06	.	13.2925	0.60278	0.1468:0.0:0.8532:0.0	.	103	O14921	RGS13_HUMAN	I	103	ENSP00000375853:S103I;ENSP00000442837:S103I	ENSP00000375853:S103I	S	+	2	0	RGS13	190895104	0.580000	0.26733	0.858000	0.33744	0.499000	0.33736	1.004000	0.29822	0.359000	0.24239	-1.094000	0.02160	AGT		0.343	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927	
RGS2	5997	broad.mit.edu	37	1	192780207	192780207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:192780207C>A	ENST00000235382.5	+	4	402	c.371C>A	c.(370-372)tCa>tAa	p.S124*		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	124	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.S124*(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						AAAACCAAATCACCCCAAAAG	0.383																																					p.S124X	Pancreas(71;51 2183 4981)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C371A	1						.						115.0	122.0	120.0					1																	192780207		2203	4300	6503	191046830	SO:0001587	stop_gained	5997	exon4			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.371C>A	1.37:g.192780207C>A	ENSP00000235382:p.Ser124*		191046830	NM_002923	Q6I9U5	Nonsense_Mutation	SNP	ENST00000235382.5	37	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462241	0.84425	.	.	ENSG00000116741	ENST00000235382	.	.	.	5.0	5.0	0.66597	.	0.057580	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.872	0.86042	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000235382:S124X	S	+	2	0	RGS2	191046830	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.026000	0.70873	2.311000	0.77944	0.563000	0.77884	TCA		0.383	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923	
TROVE2	6738	broad.mit.edu	37	1	193038240	193038240	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:193038240C>A	ENST00000367446.3	+	2	266	c.56C>A	c.(55-57)tCt>tAt	p.S19Y	TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.S19Y|TROVE2_ENST00000367443.1_Missense_Mutation_p.S19Y|TROVE2_ENST00000367444.3_Missense_Mutation_p.S19Y|TROVE2_ENST00000367441.1_Missense_Mutation_p.S19Y|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.S19Y	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	19	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.S19Y(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATAGCCAATTCTCAGGATGGA	0.378																																					p.S19Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56A	1						.						102.0	98.0	100.0					1																	193038240		1929	4131	6060	191304863	SO:0001583	missense	6738	exon2			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.56C>A	1.37:g.193038240C>A	ENSP00000356416:p.Ser19Tyr		191304863	NM_001173524	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441199	0.63067	.	.	ENSG00000116747	ENST00000400968;ENST00000415442;ENST00000506303;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T;T	0.15487	2.51;2.42;2.42;2.51;2.51;2.51;2.51;2.51	5.33	4.41	0.53225	TROVE (2);	0.061072	0.64402	D	0.000002	T	0.40448	0.1117	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.994;0.994;0.999;0.997	P;P;D;D	0.67103	0.877;0.877;0.949;0.914	T	0.36672	-0.9738	10	0.62326	D	0.03	-10.4852	15.7145	0.77658	0.0:0.7424:0.2576:0.0	.	19;19;19;19	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	Y	19	ENSP00000383752:S19Y;ENSP00000401176:S19Y;ENSP00000425296:S19Y;ENSP00000356416:S19Y;ENSP00000356413:S19Y;ENSP00000356415:S19Y;ENSP00000356414:S19Y;ENSP00000356411:S19Y	ENSP00000356411:S19Y	S	+	2	0	TROVE2	191304863	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	4.752000	0.62176	1.233000	0.43693	0.557000	0.71058	TCT		0.378	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
TROVE2	6738	broad.mit.edu	37	1	193046097	193046097	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:193046097C>A	ENST00000367446.3	+	5	1213	c.1003C>A	c.(1003-1005)Cat>Aat	p.H335N	TROVE2_ENST00000432079.1_Missense_Mutation_p.H60N|TROVE2_ENST00000367445.3_Missense_Mutation_p.H335N|TROVE2_ENST00000367443.1_Missense_Mutation_p.H335N|TROVE2_ENST00000367444.3_Missense_Mutation_p.H335N|TROVE2_ENST00000367441.1_Missense_Mutation_p.H335N|TROVE2_ENST00000416058.2_Missense_Mutation_p.H60N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.H335N	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	335	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.H335N(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CAAGACAGGTCATGGTCTCAG	0.333																																					p.H335N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1003A	1						.						87.0	81.0	83.0					1																	193046097		1883	4103	5986	191312720	SO:0001583	missense	6738	exon5			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1003C>A	1.37:g.193046097C>A	ENSP00000356416:p.His335Asn		191312720	NM_001173524	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894290	0.72639	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.81	5.81	0.92471	TROVE (2);	0.047372	0.85682	D	0.000000	T	0.20618	0.0496	M	0.72894	2.215	0.54753	D	0.999983	B;B;P;P	0.37015	0.021;0.011;0.578;0.553	B;B;B;B	0.37144	0.014;0.014;0.174;0.242	T	0.04242	-1.0966	10	0.16420	T	0.52	-17.7185	20.1409	0.98058	0.0:1.0:0.0:0.0	.	335;335;335;335	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	N	335;60;335;335;335;335;335	ENSP00000383752:H335N;ENSP00000411421:H60N;ENSP00000356416:H335N;ENSP00000356413:H335N;ENSP00000356415:H335N;ENSP00000356414:H335N;ENSP00000356411:H335N	ENSP00000356411:H335N	H	+	1	0	TROVE2	191312720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.550000	0.53691	2.768000	0.95171	0.644000	0.83932	CAT		0.333	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
UBR4	23352	broad.mit.edu	37	1	19408021	19408021	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19408021C>T	ENST00000375254.3	-	103	15082	c.15055G>A	c.(15055-15057)Gaa>Aaa	p.E5019K	UBR4_ENST00000375225.3_Missense_Mutation_p.E94K|UBR4_ENST00000543981.1_Missense_Mutation_p.E683K|UBR4_ENST00000375267.2_Missense_Mutation_p.E5019K|UBR4_ENST00000375224.1_Missense_Mutation_p.E726K|UBR4_ENST00000375217.2_Missense_Mutation_p.E5012K|UBR4_ENST00000375226.2_Missense_Mutation_p.E4995K|UBR4_ENST00000429347.2_Missense_Mutation_p.E542K|AL137127.1_ENST00000582644.1_RNA	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5019					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E5019K(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGGCTGTTCCAGAAAGCCT	0.537																																					p.E5019K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15055A	1						.						160.0	165.0	163.0					1																	19408021		2203	4300	6503	19280608	SO:0001583	missense	23352	exon103			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15055G>A	1.37:g.19408021C>T	ENSP00000364403:p.Glu5019Lys		19280608	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496632	0.64186	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.57257	0.979;0.979;0.979;0.974	D;D;D;D	0.71414	0.973;0.973;0.973;0.953	T	0.07501	-1.0769	10	0.23891	T	0.37	.	18.3749	0.90432	0.0:1.0:0.0:0.0	.	683;542;5019;4995	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	K	5019;5019;5012;4995;94;726;542;683	ENSP00000364403:E5019K;ENSP00000364416:E5019K;ENSP00000364365:E5012K;ENSP00000364374:E4995K;ENSP00000364373:E94K;ENSP00000364372:E726K;ENSP00000394173:E542K;ENSP00000444070:E683K	ENSP00000364365:E5012K	E	-	1	0	UBR4	19280608	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.399000	0.79935	2.756000	0.94617	0.563000	0.77884	GAA		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19426954	19426954	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19426954G>A	ENST00000375254.3	-	89	13164	c.13137C>T	c.(13135-13137)atC>atT	p.I4379I	UBR4_ENST00000543981.1_Silent_p.I70I|UBR4_ENST00000375267.2_Silent_p.I4379I|UBR4_ENST00000375224.1_Silent_p.I86I|UBR4_ENST00000467272.2_5'Flank|UBR4_ENST00000375217.2_Silent_p.I4372I|UBR4_ENST00000375226.2_Silent_p.I4355I|UBR4_ENST00000429347.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4379					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I4379I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCGGCCCGATGCCTGGCT	0.517																																					p.I4379I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C13137T	1						.						167.0	155.0	159.0					1																	19426954		2203	4300	6503	19299541	SO:0001819	synonymous_variant	23352	exon89			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13137C>T	1.37:g.19426954G>A			19299541	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19468011	19468011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19468011G>T	ENST00000375254.3	-	57	8345	c.8318C>A	c.(8317-8319)tCg>tAg	p.S2773*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.S2773*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S2801*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S2784*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2773					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S2773*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGACCATCGACTCAGACTG	0.547																																					p.S2773X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8318A	1						.						64.0	67.0	66.0					1																	19468011		2203	4300	6503	19340598	SO:0001587	stop_gained	23352	exon57			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8318C>A	1.37:g.19468011G>T	ENSP00000364403:p.Ser2773*		19340598	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	43	9.926792	0.99297	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	.	.	.	X	2773;2773;2801;2784;416;1494	.	ENSP00000364365:S2801X	S	-	2	0	UBR4	19340598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.202000	0.95026	2.837000	0.97791	0.591000	0.81541	TCG		0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19475106	19475106	+	Missense_Mutation	SNP	G	G	T	rs373018513		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19475106G>T	ENST00000375254.3	-	50	7472	c.7445C>A	c.(7444-7446)tCt>tAt	p.S2482Y	UBR4_ENST00000375267.2_Missense_Mutation_p.S2482Y|UBR4_ENST00000375217.2_Missense_Mutation_p.S2482Y|UBR4_ENST00000375226.2_Missense_Mutation_p.S2493Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2482					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S2482Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCTTCTAAAGAACTCACAAC	0.498																																					p.S2482Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7445A	1						.						112.0	115.0	114.0					1																	19475106		2203	4300	6503	19347693	SO:0001583	missense	23352	exon50			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7445C>A	1.37:g.19475106G>T	ENSP00000364403:p.Ser2482Tyr		19347693	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253096	0.80135	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23552	1.91;1.91;1.9;1.92	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.07654	-1.0761	10	0.02654	T	1	.	18.9561	0.92659	0.0:0.0:1.0:0.0	.	2482	Q5T4S7	UBR4_HUMAN	Y	2482;2482;2482;2493;97;1203	ENSP00000364403:S2482Y;ENSP00000364416:S2482Y;ENSP00000364365:S2482Y;ENSP00000364374:S2493Y	ENSP00000364365:S2482Y	S	-	2	0	UBR4	19347693	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.492000	0.84095	0.305000	0.20034	TCT		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19478964	19478964	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19478964C>T	ENST00000375254.3	-	47	6866	c.6839G>A	c.(6838-6840)cGc>cAc	p.R2280H	UBR4_ENST00000375267.2_Missense_Mutation_p.R2280H|UBR4_ENST00000375217.2_Missense_Mutation_p.R2280H|UBR4_ENST00000375226.2_Missense_Mutation_p.R2280H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2280					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R2280H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTAGACGTGCGGGTTGCTGC	0.522																																					p.R2280H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6839A	1						.						120.0	120.0	120.0					1																	19478964		2203	4300	6503	19351551	SO:0001583	missense	23352	exon47			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6839G>A	1.37:g.19478964C>T	ENSP00000364403:p.Arg2280His		19351551	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095173	0.94197	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.21062	0.0507	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.72075	0.804;0.976	T	0.27971	-1.0058	10	0.56958	D	0.05	.	19.3135	0.94202	0.0:1.0:0.0:0.0	.	2281;2280	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	H	2280;2280;2280;2280;990;1497	ENSP00000364403:R2280H;ENSP00000364416:R2280H;ENSP00000364365:R2280H;ENSP00000364374:R2280H;ENSP00000404897:R990H	ENSP00000364365:R2280H	R	-	2	0	UBR4	19351551	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.130000	0.77235	2.798000	0.96311	0.650000	0.86243	CGC		0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19480410	19480410	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19480410G>T	ENST00000375254.3	-	45	6509	c.6482C>A	c.(6481-6483)tCt>tAt	p.S2161Y	UBR4_ENST00000375267.2_Missense_Mutation_p.S2161Y|UBR4_ENST00000375217.2_Missense_Mutation_p.S2161Y|UBR4_ENST00000375226.2_Missense_Mutation_p.S2161Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S2161Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGAGCAGGAGAAGTCTTACT	0.483																																					p.S2161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6482A	1						.						84.0	78.0	80.0					1																	19480410		2203	4300	6503	19352997	SO:0001583	missense	23352	exon45			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6482C>A	1.37:g.19480410G>T	ENSP00000364403:p.Ser2161Tyr		19352997	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052116	0.93793	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.25579	1.8;1.8;1.79;1.79	5.31	5.31	0.75309	.	0.063152	0.64402	D	0.000003	T	0.39036	0.1063	L	0.34521	1.04	0.80722	D	1	D;D	0.64830	0.994;0.99	P;D	0.71656	0.805;0.974	T	0.02320	-1.1177	10	0.19147	T	0.46	.	18.1582	0.89700	0.0:0.0:1.0:0.0	.	2162;2161	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	Y	2161;2161;2161;2161;871;1378	ENSP00000364403:S2161Y;ENSP00000364416:S2161Y;ENSP00000364365:S2161Y;ENSP00000364374:S2161Y	ENSP00000364365:S2161Y	S	-	2	0	UBR4	19352997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.025000	0.93694	2.779000	0.95612	0.591000	0.81541	TCT		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19488340	19488340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19488340C>A	ENST00000375254.3	-	36	5035	c.5008G>T	c.(5008-5010)Gaa>Taa	p.E1670*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.E1670*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E1670*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E1670*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1670					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1670*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCATGAATTCTTTCTGTGTG	0.363																																					p.E1670X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5008T	1						.						88.0	85.0	86.0					1																	19488340		2203	4300	6503	19360927	SO:0001587	stop_gained	23352	exon36			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5008G>T	1.37:g.19488340C>A	ENSP00000364403:p.Glu1670*		19360927	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	37	6.289366	0.97444	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	1670;1670;1670;1670;380;886	.	ENSP00000364365:E1670X	E	-	1	0	UBR4	19360927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.657000	0.67996	2.941000	0.99782	0.655000	0.94253	GAA		0.363	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
UBR4	23352	broad.mit.edu	37	1	19525410	19525410	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19525410G>T	ENST00000375254.3	-	4	418	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	UBR4_ENST00000375267.2_Missense_Mutation_p.L131I|UBR4_ENST00000375217.2_Missense_Mutation_p.L131I|UBR4_ENST00000375226.2_Missense_Mutation_p.L131I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	131					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L131I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGATTAGGAGAATCAAGTGT	0.373																																					p.L131I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391A	1						.						73.0	73.0	73.0					1																	19525410		2203	4300	6503	19397997	SO:0001583	missense	23352	exon4			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.391C>A	1.37:g.19525410G>T	ENSP00000364403:p.Leu131Ile		19397997	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406152	0.62288	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.25749	1.79;1.78;1.78;1.78	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.33485	1.01	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.02512	-1.1148	10	0.27082	T	0.32	.	17.7729	0.88499	0.0:0.0:1.0:0.0	.	131	Q5T4S7	UBR4_HUMAN	I	131	ENSP00000364403:L131I;ENSP00000364416:L131I;ENSP00000364365:L131I;ENSP00000364374:L131I	ENSP00000364365:L131I	L	-	1	0	UBR4	19397997	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.968000	0.87980	2.536000	0.85505	0.563000	0.77884	CTC		0.373	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
EMC1	23065	broad.mit.edu	37	1	19549950	19549950	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19549950G>T	ENST00000477853.1	-	19	2358	c.2316C>A	c.(2314-2316)tcC>tcA	p.S772S	EMC1_ENST00000480380.1_5'Flank|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S771S|EMC1_ENST00000375208.3_Silent_p.S750S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	772						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.S772S(1)									TCTGCACAGAGGAGTGAATGA	0.557																																					p.S772S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2316A	1						.						246.0	208.0	221.0					1																	19549950		2203	4300	6503	19422537	SO:0001819	synonymous_variant	23065	exon19				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2316C>A	1.37:g.19549950G>T			19422537	NM_015047	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	8.115	0.779751	0.16120	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.69	2.74	0.32292	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50693	-0.8798	4	.	.	.	-22.0206	8.9505	0.35785	0.0:0.2481:0.3793:0.3726	.	.	.	.	I	506	.	.	L	-	1	0	KIAA0090	19422537	0.445000	0.25657	0.995000	0.50966	0.790000	0.44656	-0.283000	0.08433	0.317000	0.23160	0.462000	0.41574	CTC		0.557	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
EMC1	23065	broad.mit.edu	37	1	19557838	19557838	+	Missense_Mutation	SNP	G	G	A	rs116784512	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:19557838G>A	ENST00000477853.1	-	16	1903	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R620C|EMC1_ENST00000375208.3_Missense_Mutation_p.R599C	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	621						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.R621C(1)									AAGATGGGGCGCTTCAGCACT	0.488													G|||	26	0.00519169	0.0182	0.0029	5008	,	,		18955	0.0		0.0	False		,,,				2504	0.0				p.R621C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1861T	1						.	G	CYS/ARG	69,4337	62.3+/-99.4	0,69,2134	101.0	103.0	102.0		1861	4.7	1.0	1	dbSNP_132	102	0,8600		0,0,4300	yes	missense	KIAA0090	NM_015047.1	180	0,69,6434	AA,AG,GG		0.0,1.566,0.5305	possibly-damaging	621/994	19557838	69,12937	2203	4300	6503	19430425	SO:0001583	missense	23065	exon16				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1861C>T	1.37:g.19557838G>A	ENSP00000420608:p.Arg621Cys		19430425	NM_015047	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	CCDS190.1	3|3	0.0013736263736263737|0.0013736263736263737	2|2	0.0040650406504065045|0.0040650406504065045	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	21.1|21.1	4.098076|4.098076	0.76870|0.76870	0.01566|0.01566	0.0|0.0	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.24151	.|1.87;1.87;1.87	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|0.243072	.|0.41823	.|D	.|0.000803	T|T	0.25082|0.25082	0.0609|0.0609	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.989;0.989;0.999;0.999	.|P;P;P;P	.|0.57776	.|0.827;0.784;0.804;0.642	T|T	0.03121|0.03121	-1.1070|-1.1070	5|10	.|0.37606	.|T	.|0.19	-14.2301|-14.2301	14.792|14.792	0.69848|0.69848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|599;620;620;621	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	V|C	354|621;620;599	.|ENSP00000420608:R621C;ENSP00000364345:R620C;ENSP00000364354:R599C	.|ENSP00000364345:R620C	A|R	-|-	2|1	0|0	KIAA0090|KIAA0090	19430425|19430425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.965000|6.965000	0.76067|0.76067	2.319000|2.319000	0.78375|0.78375	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.488	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
GLRX2	51022	broad.mit.edu	37	1	193065766	193065766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:193065766C>A	ENST00000367439.3	-	4	532	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	GLRX2_ENST00000472197.1_5'Flank|GLRX2_ENST00000367440.3_Nonsense_Mutation_p.E163*	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	162					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)	p.E163*(1)		breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CACTGAAATTCTTTCCTCTTA	0.323																																					p.E163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G487T	1						.						54.0	55.0	54.0					1																	193065766		2202	4300	6502	191332389	SO:0001587	stop_gained	51022	exon4			AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.484G>T	1.37:g.193065766C>A	ENSP00000356409:p.Glu162*		191332389	NM_016066	Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Nonsense_Mutation	SNP	ENST00000367439.3	37	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	C	35	5.581864	0.96578	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	.	.	.	5.47	3.57	0.40892	.	2.537240	0.00961	N	0.003116	.	.	.	.	.	.	0.25192	N	0.990124	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4256	5.2862	0.15702	0.1559:0.6296:0.1366:0.0778	.	.	.	.	X	162;163	.	ENSP00000356409:E162X	E	-	1	0	GLRX2	191332389	0.930000	0.31532	0.068000	0.19968	0.898000	0.52572	1.599000	0.36751	0.651000	0.30788	0.561000	0.74099	GAA		0.323	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066	
KCNT2	343450	broad.mit.edu	37	1	196309545	196309545	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196309545C>A	ENST00000294725.9	-	16	2624	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	KCNT2_ENST00000609185.1_Missense_Mutation_p.R520I|KCNT2_ENST00000451324.2_Missense_Mutation_p.R181I|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R570I|KCNT2_ENST00000367431.4_Missense_Mutation_p.R520I			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	570					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R570I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGCTTTTTCTCTGCTGGTC	0.343																																					p.R570I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1709T	1						.						119.0	111.0	114.0					1																	196309545		2203	4300	6503	194576168	SO:0001583	missense	343450	exon16			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1709G>T	1.37:g.196309545C>A	ENSP00000294725:p.Arg570Ile		194576168	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253651	0.39797	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.31510	2.22;2.24;1.49;2.47	5.84	2.85	0.33270	.	0.162631	0.43747	D	0.000523	T	0.28366	0.0701	L	0.54323	1.7	0.40959	D	0.984605	B;B;B;B;B	0.34372	0.158;0.012;0.059;0.451;0.158	B;B;B;B;B	0.38428	0.048;0.041;0.15;0.273;0.048	T	0.04153	-1.0973	10	0.38643	T	0.18	-11.6251	6.8685	0.24106	0.0:0.596:0.0:0.404	.	570;552;570;520;570	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	I	570;520;391;181;570	ENSP00000356403:R570I;ENSP00000356401:R520I;ENSP00000405474:R181I;ENSP00000294725:R570I	ENSP00000294725:R570I	R	-	2	0	KCNT2	194576168	0.906000	0.30813	0.999000	0.59377	0.819000	0.46315	1.163000	0.31798	0.293000	0.22520	-0.143000	0.13931	AGA		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
CFH	3075	broad.mit.edu	37	1	196648807	196648807	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196648807T>G	ENST00000359637.2	+	5	544	c.482T>G	c.(481-483)aTt>aGt	p.I161S	CFH_ENST00000439155.2_Missense_Mutation_p.I225S|CFH_ENST00000367429.4_Missense_Mutation_p.I225S			P08603	CFAH_HUMAN	complement factor H	225	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.I225S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCTCAGAAGATTATTTATAAG	0.323																																					p.I225S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674G	1						.						59.0	61.0	60.0					1																	196648807		2203	4298	6501	194915430	SO:0001583	missense	3075	exon6			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.482T>G	1.37:g.196648807T>G	ENSP00000352658:p.Ile161Ser		194915430	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	T	5.020	0.189393	0.09547	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62639	0.01;0.01;0.01	5.99	-12.0	0.00017	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.28433	0.0703	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.16396	0.001;0.017;0.003;0.004	B;B;B;B	0.19391	0.001;0.025;0.0;0.001	T	0.15636	-1.0430	9	0.08179	T	0.78	.	10.5628	0.45154	0.1079:0.6182:0.1972:0.0767	.	161;225;225;225	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	S	225;225;225;161	ENSP00000356399:I225S;ENSP00000402656:I225S;ENSP00000352658:I161S	ENSP00000352658:I161S	I	+	2	0	CFH	194915430	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.536000	0.00438	-2.827000	0.00341	-1.560000	0.00886	ATT		0.323	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
CFH	3075	broad.mit.edu	37	1	196659244	196659244	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196659244G>T	ENST00000359637.2	+	8	1081	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	CFH_ENST00000439155.2_Missense_Mutation_p.R404I|CFH_ENST00000367429.4_Missense_Mutation_p.R404I			P08603	CFAH_HUMAN	complement factor H	404	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.R404I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353																																					p.R404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211T	1						.						59.0	59.0	59.0					1																	196659244		2203	4300	6503	194925867	SO:0001583	missense	3075	exon9			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1019G>T	1.37:g.196659244G>T	ENSP00000352658:p.Arg340Ile		194925867	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	G	14.41	2.528103	0.44969	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64991	-0.13;-0.13;-0.13	4.69	-9.38	0.00623	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.61751	0.2372	L	0.49513	1.565	0.09310	N	1	D;P;P;P	0.65815	0.995;0.945;0.931;0.702	D;P;P;B	0.65233	0.933;0.674;0.655;0.437	T	0.64609	-0.6367	9	0.37606	T	0.19	.	4.9411	0.13965	0.55:0.2385:0.1313:0.0802	.	340;404;404;404	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	404;404;404;340	ENSP00000356399:R404I;ENSP00000402656:R404I;ENSP00000352658:R340I	ENSP00000352658:R340I	R	+	2	0	CFH	194925867	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.743000	0.00797	-3.522000	0.00147	-0.136000	0.14681	AGA		0.353	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	
CFH	3075	broad.mit.edu	37	1	196695703	196695703	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196695703C>T	ENST00000367429.4	+	13	2217	c.1977C>T	c.(1975-1977)tgC>tgT	p.C659C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	659	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.C659C(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATATTATTGCAATCCTAGAT	0.348																																					p.C659C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1977T	1						.						101.0	106.0	104.0					1																	196695703		2203	4298	6501	194962326	SO:0001819	synonymous_variant	3075	exon13			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1977C>T	1.37:g.196695703C>T			194962326	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	CCDS1385.1																																																																																				0.348	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFH	3075	broad.mit.edu	37	1	196709779	196709779	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196709779C>A	ENST00000367429.4	+	18	3053	c.2813C>A	c.(2812-2814)tCt>tAt	p.S938Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	938	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.S938Y(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTGAGATTTCTCATGGTGTT	0.338																																					p.S938Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2813A	1						.						120.0	117.0	118.0					1																	196709779		2203	4300	6503	194976402	SO:0001583	missense	3075	exon18			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2813C>A	1.37:g.196709779C>A	ENSP00000356399:p.Ser938Tyr		194976402	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065212	0.55432	.	.	ENSG00000000971	ENST00000367429	T	0.66815	-0.23	6.16	-6.7	0.01766	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.47377	0.1442	N	0.25380	0.74	0.09310	N	1	B	0.18741	0.03	B	0.17722	0.019	T	0.44726	-0.9309	9	0.54805	T	0.06	.	9.0334	0.36273	0.6733:0.1792:0.0863:0.0613	.	938	P08603	CFAH_HUMAN	Y	938	ENSP00000356399:S938Y	ENSP00000356399:S938Y	S	+	2	0	CFH	194976402	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.042000	0.01414	-0.665000	0.05317	-0.271000	0.10264	TCT		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFH	3075	broad.mit.edu	37	1	196714960	196714960	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196714960A>T	ENST00000367429.4	+	21	3564	c.3324A>T	c.(3322-3324)aaA>aaT	p.K1108N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1108	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.K1108N(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACAGGAAAATGTGGGCCCC	0.403																																					p.K1108N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3324T	1						.						160.0	152.0	155.0					1																	196714960		2203	4300	6503	194981583	SO:0001583	missense	3075	exon21			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3324A>T	1.37:g.196714960A>T	ENSP00000356399:p.Lys1108Asn		194981583	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.19	2.462827	0.43736	.	.	ENSG00000000971	ENST00000367429	T	0.32515	1.45	4.77	0.958	0.19619	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.22742	0.0549	M	0.72118	2.19	0.80722	D	1	P	0.38195	0.622	B	0.29598	0.104	T	0.08911	-1.0699	9	0.16896	T	0.51	.	6.1711	0.20418	0.5286:0.3184:0.0:0.153	.	1108	P08603	CFAH_HUMAN	N	1108	ENSP00000356399:K1108N	ENSP00000356399:K1108N	K	+	3	2	CFH	194981583	1.000000	0.71417	0.980000	0.43619	0.358000	0.29455	1.173000	0.31920	-0.021000	0.14009	0.449000	0.29647	AAA		0.403	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFH	3075	broad.mit.edu	37	1	196716272	196716272	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196716272A>C	ENST00000367429.4	+	22	3765	c.3525A>C	c.(3523-3525)gaA>gaC	p.E1175D		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1175	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.E1175D(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATTATGGAAAATTATAACA	0.333																																					p.E1175D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3525C	1						.						102.0	105.0	104.0					1																	196716272		2203	4298	6501	194982895	SO:0001583	missense	3075	exon22			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3525A>C	1.37:g.196716272A>C	ENSP00000356399:p.Glu1175Asp		194982895	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	13.15	2.150969	0.38021	.	.	ENSG00000000971	ENST00000367429	D	0.83914	-1.78	4.48	-0.989	0.10242	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.75317	0.3833	L	0.54323	1.7	0.09310	N	1	P	0.38148	0.62	B	0.44108	0.441	T	0.61227	-0.7105	9	0.16420	T	0.52	.	0.2339	0.00184	0.2874:0.1502:0.1897:0.3727	.	1175	P08603	CFAH_HUMAN	D	1175	ENSP00000356399:E1175D	ENSP00000356399:E1175D	E	+	3	2	CFH	194982895	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.139000	0.03213	-0.044000	0.13491	0.454000	0.30748	GAA		0.333	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFH	3075	broad.mit.edu	37	1	196716339	196716339	+	Nonsense_Mutation	SNP	G	G	T	rs121913063		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196716339G>T	ENST00000367429.4	+	22	3832	c.3592G>T	c.(3592-3594)Gaa>Taa	p.E1198*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1198	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> A (in AHUS1). {ECO:0000269|PubMed:14583443}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.E1198*(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATCAGTTGAATTTGTGTG	0.398																																					p.E1198X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3592T	1	GRCh37	CM060895|CM070672	CFH	M	rs121913063	.						249.0	223.0	232.0					1																	196716339		2203	4300	6503	194982962	SO:0001587	stop_gained	3075	exon22			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3592G>T	1.37:g.196716339G>T	ENSP00000356399:p.Glu1198*		194982962	NM_000186	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	ENST00000367429.4	37	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	37	6.295108	0.97449	.	.	ENSG00000000971	ENST00000367429	.	.	.	4.35	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	11.7776	0.51995	0.0:0.1778:0.8222:0.0	.	.	.	.	X	1198	.	ENSP00000356399:E1198X	E	+	1	0	CFH	194982962	0.999000	0.42202	0.974000	0.42286	0.007000	0.05969	3.600000	0.54052	1.196000	0.43129	-0.485000	0.04761	GAA		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
CFHR2	3080	broad.mit.edu	37	1	196857310	196857310	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196857310C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Silent_p.T10T|CFHR4_ENST00000367418.2_Silent_p.T10T|CFHR4_ENST00000251424.4_Silent_p.T10T|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.T10T(2)		large_intestine(2)|ovary(1)|skin(3)	6						TCATTCTGACCTTGTGGGTTT	0.348																																					p.T10T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C30T	1						.						147.0	141.0	143.0					1																	196857310		2201	4299	6500	195123933	SO:0001627	intron_variant	10877	exon1			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-61275C>T	1.37:g.196857310C>T			195123933	NM_006684	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																					0.348	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CFHR2	3080	broad.mit.edu	37	1	196927075	196927075	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:196927075C>T	ENST00000367415.5	+	4	585	c.485C>T	c.(484-486)tCa>tTa	p.S162L	CFHR2_ENST00000367421.3_Missense_Mutation_p.S162L|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000476712.2_Missense_Mutation_p.S146L	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.S162L(1)		large_intestine(2)|ovary(1)|skin(3)	6						GACATTACTTCATTCCTGTTG	0.378																																					p.S162L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485T	1						.						156.0	142.0	147.0					1																	196927075		2203	4300	6503	195193698	SO:0001583	missense	3080	exon4			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.485C>T	1.37:g.196927075C>T	ENSP00000356385:p.Ser162Leu		195193698	NM_005666	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.470180	0.43839	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.46063	0.88;0.88	4.25	4.25	0.50352	Complement control module (2);Sushi/SCR/CCP (3);	0.320980	0.17426	N	0.174644	T	0.43456	0.1248	M	0.63428	1.95	0.09310	N	1	P	0.44241	0.829	B	0.41466	0.358	T	0.39099	-0.9630	10	0.42905	T	0.14	.	14.1516	0.65389	0.0:1.0:0.0:0.0	.	162	P36980	FHR2_HUMAN	L	162	ENSP00000356391:S162L;ENSP00000356385:S162L	ENSP00000356385:S162L	S	+	2	0	CFHR2	195193698	0.007000	0.16637	0.013000	0.15412	0.175000	0.22909	1.790000	0.38734	1.881000	0.54492	0.514000	0.50259	TCA		0.378	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666	
F13B	2165	broad.mit.edu	37	1	197029565	197029565	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197029565A>C	ENST00000367412.1	-	5	779	c.736T>G	c.(736-738)Tat>Gat	p.Y246D		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.Y246D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCACTTAGATAATAATTTTCA	0.313																																					p.Y246D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T736G	1						.						69.0	77.0	75.0					1																	197029565		2203	4294	6497	195296188	SO:0001583	missense	2165	exon5			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.736T>G	1.37:g.197029565A>C	ENSP00000356382:p.Tyr246Asp		195296188	NM_001994	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960896	0.53400	.	.	ENSG00000143278	ENST00000367412	T	0.64803	-0.12	5.76	-2.22	0.06952	Complement control module (2);Sushi/SCR/CCP (3);	0.608641	0.12564	N	0.457931	T	0.47930	0.1472	N	0.17764	0.52	0.27429	N	0.954051	P	0.37594	0.601	P	0.45558	0.485	T	0.47381	-0.9122	10	0.40728	T	0.16	.	6.8894	0.24220	0.5123:0.0:0.3775:0.1102	.	246	P05160	F13B_HUMAN	D	246	ENSP00000356382:Y246D	ENSP00000356382:Y246D	Y	-	1	0	F13B	195296188	0.209000	0.23505	0.908000	0.35775	0.980000	0.70556	0.137000	0.15995	-0.579000	0.05952	-0.297000	0.09499	TAT		0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994	
ASPM	259266	broad.mit.edu	37	1	197070153	197070153	+	Missense_Mutation	SNP	C	C	T	rs202193200	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197070153C>T	ENST00000367409.4	-	18	8484	c.8228G>A	c.(8227-8229)cGa>cAa	p.R2743Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2743	IQ 31. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.R2743Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGAATAGTTCGTACAGATTT	0.333													C|||	4	0.000798722	0.0015	0.0	5008	,	,		19139	0.002		0.0	False		,,,				2504	0.0				p.R2743Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8228A	1						.						39.0	42.0	41.0					1																	197070153		2201	4296	6497	195336776	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8228G>A	1.37:g.197070153C>T	ENSP00000356379:p.Arg2743Gln		195336776	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.98	2.698761	0.48307	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.56444	0.46	4.5	-4.82	0.03171	.	1.293920	0.05622	N	0.580062	T	0.50103	0.1596	N	0.25890	0.77	0.09310	N	1	D;D	0.71674	0.998;0.981	D;P	0.70227	0.968;0.797	T	0.49615	-0.8921	10	0.37606	T	0.19	.	2.8073	0.05431	0.4442:0.1838:0.2834:0.0886	.	729;2743	E7EQ84;Q8IZT6	.;ASPM_HUMAN	Q	2743;729	ENSP00000356379:R2743Q	ENSP00000356376:R729Q	R	-	2	0	ASPM	195336776	0.000000	0.05858	0.000000	0.03702	0.826000	0.46750	0.321000	0.19558	-0.507000	0.06549	0.462000	0.41574	CGA		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197094013	197094013	+	Missense_Mutation	SNP	G	G	A	rs550484483		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197094013G>A	ENST00000367409.4	-	12	3411	c.3155C>T	c.(3154-3156)gCg>gTg	p.A1052V	ASPM_ENST00000294732.7_Missense_Mutation_p.A1052V|ASPM_ENST00000367408.1_Missense_Mutation_p.A302V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1052	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A1052V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAAGCAAACGCTATTTTCCA	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		14705	0.0		0.0	False		,,,				2504	0.001				p.A1052V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3155T	1						.						143.0	153.0	149.0					1																	197094013		2203	4299	6502	195360636	SO:0001583	missense	259266	exon12			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3155C>T	1.37:g.197094013G>A	ENSP00000356379:p.Ala1052Val		195360636	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689073	0.29962	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60299	0.2;0.2;0.2	5.54	2.63	0.31362	Calponin homology domain (4);	0.261022	0.32802	N	0.005637	T	0.22205	0.0535	N	0.02142	-0.665	0.29596	N	0.848031	B;B	0.18610	0.029;0.017	B;B	0.12837	0.008;0.006	T	0.31861	-0.9928	10	0.02654	T	1	.	7.3367	0.26613	0.4253:0.0:0.5747:0.0	.	1052;1052	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1052;1052;302	ENSP00000356379:A1052V;ENSP00000294732:A1052V;ENSP00000356378:A302V	ENSP00000294732:A1052V	A	-	2	0	ASPM	195360636	0.991000	0.36638	0.539000	0.28077	0.867000	0.49689	1.580000	0.36547	0.826000	0.34661	0.557000	0.71058	GCG		0.279	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197111714	197111714	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197111714C>A	ENST00000367409.4	-	3	1924	c.1668G>T	c.(1666-1668)aaG>aaT	p.K556N	ASPM_ENST00000294732.7_Missense_Mutation_p.K556N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	556					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.K556N(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTATAACTCTTAGATTTAC	0.348																																					p.K556N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1668T	1						.						92.0	98.0	96.0					1																	197111714		2203	4299	6502	195378337	SO:0001583	missense	259266	exon3			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1668G>T	1.37:g.197111714C>A	ENSP00000356379:p.Lys556Asn		195378337	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209627	0.58343	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.54	5.56	-1.48	0.08745	.	0.819993	0.11184	N	0.590692	T	0.46092	0.1375	M	0.63843	1.955	0.09310	N	1	B;P	0.34462	0.013;0.454	B;B	0.29663	0.007;0.105	T	0.29731	-1.0002	10	0.33940	T	0.23	.	6.682	0.23125	0.0:0.4985:0.2343:0.2672	.	556;556	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	556	ENSP00000356379:K556N;ENSP00000294732:K556N	ENSP00000294732:K556N	K	-	3	2	ASPM	195378337	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-0.763000	0.04740	-0.121000	0.11787	-0.233000	0.12211	AAG		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ZBTB41	360023	broad.mit.edu	37	1	197150125	197150125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197150125G>A	ENST00000367405.4	-	5	1737	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	557					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.R557*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CACCTTTCTCGTACTGATTTT	0.343																																					p.R557X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1669T	1						.						174.0	157.0	163.0					1																	197150125		2203	4300	6503	195416748	SO:0001587	stop_gained	360023	exon5				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1669C>T	1.37:g.197150125G>A	ENSP00000356375:p.Arg557*		195416748	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678037	0.97755	.	.	ENSG00000177888	ENST00000367405	.	.	.	5.66	2.12	0.27331	.	0.000000	0.37261	N	0.002179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8055	0.63227	0.0:0.0:0.2894:0.7106	.	.	.	.	X	557	.	ENSP00000356375:R557X	R	-	1	2	ZBTB41	195416748	0.993000	0.37304	0.999000	0.59377	0.996000	0.88848	2.286000	0.43496	0.769000	0.33313	0.585000	0.79938	CGA		0.343	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
ZBTB41	360023	broad.mit.edu	37	1	197169589	197169589	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197169589T>C	ENST00000367405.4	-	1	83	c.15A>G	c.(13-15)agA>agG	p.R5R	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R5R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAGTAACCTTTCTCCTCTTCT	0.358																																					p.R5R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A15G	1						.						62.0	64.0	63.0					1																	197169589		2203	4300	6503	195436212	SO:0001819	synonymous_variant	360023	exon1				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.15A>G	1.37:g.197169589T>C			195436212	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Silent	SNP	ENST00000367405.4	37	CCDS30960.1																																																																																				0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
CRB1	23418	broad.mit.edu	37	1	197404377	197404377	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197404377C>A	ENST00000367400.3	+	9	3519	c.3384C>A	c.(3382-3384)atC>atA	p.I1128I	CRB1_ENST00000544212.1_Silent_p.I609I|CRB1_ENST00000367399.2_Silent_p.I1016I|CRB1_ENST00000367397.1_Silent_p.I509I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.I1104I|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1128	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I1128I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTCAAAATCTCTACCAATT	0.388																																					p.I1128I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3384A	1						.						87.0	85.0	85.0					1																	197404377		2203	4300	6503	195671000	SO:0001819	synonymous_variant	23418	exon9				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3384C>A	1.37:g.197404377C>A			195671000	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.388	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
DENND1B	163486	broad.mit.edu	37	1	197480859	197480859	+	IGR	SNP	G	G	A	rs200671323		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197480859G>A								CRB1 (33274 upstream) : DENND1B (40525 downstream)														p.T169M(1)									TCTACTAACCGTAGGTTTGTA	0.363																																					p.T605M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1814T	1						.	G	MET/THR	0,4406		0,0,2203	48.0	48.0	48.0		1814	5.7	1.0	1		48	2,8590	2.2+/-6.3	0,2,4294	no	missense-near-splice	DENND1B	NM_001195215.1	81	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	605/776	197480859	2,12996	2203	4296	6499	195747482	SO:0001628	intergenic_variant	163486	exon22																															1.37:g.197480859G>A			195747482	NM_001195215		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	18.37	3.608480	0.66558	0.0	2.33E-4	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.33438	1.41	5.7	5.7	0.88788	.	0.510093	0.17058	U	0.188674	T	0.37517	0.1006	L	0.58101	1.795	0.80722	D	1	D	0.56968	0.978	P	0.51833	0.681	T	0.04065	-1.0980	10	0.23302	T	0.38	.	8.9392	0.35720	0.0735:0.0:0.7772:0.1492	.	605	Q6P3S1-5	.	M	245;605;585	ENSP00000375839:T245M	ENSP00000375839:T245M	T	-	2	0	DENND1B	195747482	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.207000	0.32333	2.690000	0.91761	0.650000	0.86243	ACG	0	0.363								
LHX9	56956	broad.mit.edu	37	1	197887035	197887035	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197887035G>T	ENST00000367387.4	+	1	507	c.82G>T	c.(82-84)Ggc>Tgc	p.G28C	LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367391.1_Missense_Mutation_p.G19C|LHX9_ENST00000367390.3_Missense_Mutation_p.G19C|LHX9_ENST00000337020.2_Missense_Mutation_p.G28C|LHX9_ENST00000561173.1_Missense_Mutation_p.G34C	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	28					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G28C(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GATCTCCGGAGGCCACATCCA	0.612																																					p.G28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82T	1						.						99.0	99.0	99.0					1																	197887035		2203	4300	6503	196153658	SO:0001583	missense	56956	exon1			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.82G>T	1.37:g.197887035G>T	ENSP00000356357:p.Gly28Cys		196153658	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677982	0.88445	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000367388;ENST00000337020;ENST00000367387	T;D;T;D	0.88586	0.59;-2.37;0.48;-2.4	5.06	5.06	0.68205	.	0.051108	0.85682	D	0.000000	D	0.90810	0.7114	L	0.46157	1.445	0.52099	D	0.999949	P;P;D	0.54047	0.939;0.922;0.964	P;P;P	0.55345	0.599;0.774;0.774	D	0.91457	0.5186	10	0.59425	D	0.04	.	17.7666	0.88480	0.0:0.0:1.0:0.0	.	28;19;19	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	C	19;19;71;28;28	ENSP00000356361:G19C;ENSP00000356360:G19C;ENSP00000337969:G28C;ENSP00000356357:G28C	ENSP00000337969:G28C	G	+	1	0	LHX9	196153658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.128000	0.94424	2.506000	0.84524	0.655000	0.94253	GGC		0.612	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
LHX9	56956	broad.mit.edu	37	1	197890683	197890683	+	Silent	SNP	C	C	T	rs375826024		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:197890683C>T	ENST00000367387.4	+	3	1052	c.627C>T	c.(625-627)ggC>ggT	p.G209G	LHX9_ENST00000367391.1_Silent_p.G200G|LHX9_ENST00000367390.3_Silent_p.G200G|LHX9_ENST00000337020.2_Silent_p.G209G|LHX9_ENST00000561173.1_Silent_p.G215G	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	209					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G209G(2)|p.G200G(2)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCAAGAGCGGCGGCCTGGCCC	0.637																																					p.G209G												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.C627T	1						.						33.0	33.0	33.0					1																	197890683		2203	4300	6503	196157306	SO:0001819	synonymous_variant	56956	exon3			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.627C>T	1.37:g.197890683C>T			196157306	NM_020204	Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Silent	SNP	ENST00000367387.4	37	CCDS1393.1																																																																																				0.637	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	
NEK7	140609	broad.mit.edu	37	1	198248097	198248097	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:198248097T>C	ENST00000367385.4	+	7	837	c.495T>C	c.(493-495)gcT>gcC	p.A165A	NEK7_ENST00000538004.1_Silent_p.A165A	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A165A(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAAAACCAGCTAATGTGTTCA	0.368																																					p.A165A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T495C	1						.						79.0	80.0	80.0					1																	198248097		2203	4300	6503	196514720	SO:0001819	synonymous_variant	140609	exon7			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.495T>C	1.37:g.198248097T>C			196514720	NM_133494	A6NGT8	Silent	SNP	ENST00000367385.4	37	CCDS1394.1																																																																																				0.368	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494	
PTPRC	5788	broad.mit.edu	37	1	198668734	198668734	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:198668734G>T	ENST00000367376.2	+	5	505	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.D114Y|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.D112Y|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	112					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D112Y(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACGCACGCAGACTCGCAGAC	0.527											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D112Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334T	1						.						116.0	119.0	118.0					1																	198668734		2203	4300	6503	196935357	SO:0001583	missense	5788	exon5			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.334G>T	1.37:g.198668734G>T	ENSP00000356346:p.Asp112Tyr	2100	196935357	NM_002838	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	15.34	2.804346	0.50315	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000418674	T	0.03152	4.03	5.21	2.8	0.32819	.	0.747332	0.11864	N	0.522044	T	0.11750	0.0286	L	0.59436	1.845	0.09310	N	0.999992	D;D;D;D;D;D	0.71674	0.998;0.991;0.995;0.995;0.976;0.976	D;P;P;P;P;P	0.65443	0.935;0.818;0.887;0.887;0.556;0.556	T	0.17501	-1.0367	10	0.87932	D	0	.	6.836	0.23937	0.2831:0.0:0.7169:0.0	.	48;48;48;153;112;112	F5GXZ3;B4DSZ5;Q5T9M4;Q6Q1P2;E9PC28;P08575	.;.;.;.;.;PTPRC_HUMAN	Y	114;48;112;112;153;46;112;46;112	ENSP00000193532:D112Y	ENSP00000271610:D153Y	D	+	1	0	PTPRC	196935357	0.001000	0.12720	0.241000	0.24154	0.645000	0.38454	0.708000	0.25719	0.292000	0.22492	0.455000	0.32223	GAC		0.527	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198711004	198711004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:198711004G>T	ENST00000367376.2	+	24	2575	c.2404G>T	c.(2404-2406)Gaa>Taa	p.E802*	PTPRC_ENST00000348564.6_Nonsense_Mutation_p.E643*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.E804*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.E754*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.E641*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	802	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E802*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTAGAAAAAAGAAAAAGCAAC	0.413																																					p.E641X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1921T	1						.						35.0	36.0	35.0					1																	198711004		2203	4300	6503	196977627	SO:0001587	stop_gained	5788	exon21			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2404G>T	1.37:g.198711004G>T	ENSP00000356346:p.Glu802*		196977627	NM_080921	A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	40	8.203037	0.98704	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	.	.	.	5.95	5.95	0.96441	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	.	.	.	X	804;754;802;641	.	ENSP00000306782:E641X	E	+	1	0	PTPRC	196977627	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.099000	0.64554	2.825000	0.97269	0.655000	0.94253	GAA		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198721845	198721845	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:198721845G>T	ENST00000367376.2	+	31	3618	c.3447G>T	c.(3445-3447)aaG>aaT	p.K1149N	PTPRC_ENST00000348564.6_Missense_Mutation_p.K990N|PTPRC_ENST00000442510.2_Missense_Mutation_p.K1151N|PTPRC_ENST00000352140.3_Missense_Mutation_p.K1101N|PTPRC_ENST00000594404.1_Missense_Mutation_p.K988N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1149	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K1149N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTCCCCAGAAGAATTCCTCTG	0.433																																					p.K988N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2964T	1						.						73.0	72.0	72.0					1																	198721845		2203	4299	6502	196988468	SO:0001583	missense	5788	exon28			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3447G>T	1.37:g.198721845G>T	ENSP00000356346:p.Lys1149Asn		196988468	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	11.64	1.699128	0.30142	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.14022	2.54	5.41	-2.95	0.05564	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.834296	0.10354	N	0.684788	T	0.19644	0.0472	L	0.38733	1.17	0.09310	N	1	D;D;D	0.63880	0.988;0.993;0.988	P;D;P	0.67900	0.902;0.954;0.902	T	0.16748	-1.0392	10	0.59425	D	0.04	.	5.8275	0.18562	0.6484:0.0:0.1642:0.1875	.	990;1101;1149	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	N	1151;1101;1149;988	ENSP00000193532:K1101N	ENSP00000306782:K988N	K	+	3	2	PTPRC	196988468	0.432000	0.25554	0.000000	0.03702	0.022000	0.10575	0.833000	0.27504	-0.371000	0.08004	-0.145000	0.13849	AAG		0.433	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198725110	198725110	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:198725110C>A	ENST00000367376.2	+	33	3886	c.3715C>A	c.(3715-3717)Cat>Aat	p.H1239N	PTPRC_ENST00000348564.6_Missense_Mutation_p.H1080N|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1241N|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1191N|PTPRC_ENST00000594404.1_Missense_Mutation_p.H1078N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1239					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H1239N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAAACAACCATCAAGAAGA	0.388																																					p.H1078N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3232A	1						.						96.0	100.0	99.0					1																	198725110		2203	4300	6503	196991733	SO:0001583	missense	5788	exon30			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3715C>A	1.37:g.198725110C>A	ENSP00000356346:p.His1239Asn		196991733	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	1.457	-0.563385	0.03939	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02301	4.35	5.7	-1.7	0.08159	.	1.130980	0.06723	N	0.775166	T	0.01870	0.0059	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.47649	-0.9101	10	0.15952	T	0.53	.	19.5182	0.95174	0.291:0.709:0.0:0.0	.	1080;1191;1239	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	N	1241;1191;1239;1078	ENSP00000193532:H1191N	ENSP00000306782:H1078N	H	+	1	0	PTPRC	196991733	0.000000	0.05858	0.000000	0.03702	0.418000	0.31294	-0.211000	0.09332	-0.130000	0.11599	-0.474000	0.04947	CAT		0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
ZNF281	23528	broad.mit.edu	37	1	200377217	200377217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200377217C>A	ENST00000294740.3	-	2	1741	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	ZNF281_ENST00000367352.3_Missense_Mutation_p.K503N|ZNF281_ENST00000367353.1_Missense_Mutation_p.K539N	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	539					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.K539N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ATCTTCTTTTCTTTGAAAACT	0.403																																					p.K539N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1617T	1						.						81.0	80.0	80.0					1																	200377217		2203	4300	6503	198643840	SO:0001583	missense	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.1617G>T	1.37:g.200377217C>A	ENSP00000294740:p.Lys539Asn		198643840	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301045	0.40694	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.59906	0.23;0.23;0.23	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.71036	2.16	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.74494	-0.3647	10	0.72032	D	0.01	-17.2303	10.1478	0.42774	0.0:0.8492:0.0:0.1508	.	503;539	A6NF48;Q9Y2X9	.;ZN281_HUMAN	N	539;539;503;244	ENSP00000294740:K539N;ENSP00000356322:K539N;ENSP00000356321:K503N	ENSP00000294740:K539N	K	-	3	2	ZNF281	198643840	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.678000	0.37586	1.305000	0.44909	0.650000	0.86243	AAG		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
ZNF281	23528	broad.mit.edu	37	1	200378004	200378004	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200378004C>T	ENST00000294740.3	-	2	954	c.830G>A	c.(829-831)cGg>cAg	p.R277Q	ZNF281_ENST00000367352.3_Missense_Mutation_p.R241Q|ZNF281_ENST00000367353.1_Missense_Mutation_p.R277Q	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	277					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.R277Q(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GACATGTCTCCGCAGGTGATA	0.458																																					p.R277Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	1						.						82.0	78.0	79.0					1																	200378004		2203	4300	6503	198644627	SO:0001583	missense	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.830G>A	1.37:g.200378004C>T	ENSP00000294740:p.Arg277Gln		198644627	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135016	0.56828	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.04275	3.66;3.66;3.66	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	N	0.12422	0.21	0.58432	D	0.999996	D;D	0.67145	0.996;0.996	P;P	0.60286	0.827;0.872	T	0.54403	-0.8299	10	0.11485	T	0.65	-15.1359	19.715	0.96113	0.0:1.0:0.0:0.0	.	241;277	A6NF48;Q9Y2X9	.;ZN281_HUMAN	Q	277;277;241	ENSP00000294740:R277Q;ENSP00000356322:R277Q;ENSP00000356321:R241Q	ENSP00000294740:R277Q	R	-	2	0	ZNF281	198644627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.644000	0.89710	0.655000	0.94253	CGG		0.458	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
KIF14	9928	broad.mit.edu	37	1	200524573	200524573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200524573C>A	ENST00000367350.4	-	28	4801	c.4363G>T	c.(4363-4365)Gaa>Taa	p.E1455*		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1455	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.E1455*(1)|p.E1455Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTTCATTTCTTTGGTAACC	0.264																																					p.E1455X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|breast(1)	c.G4363T	1						.						53.0	57.0	55.0					1																	200524573		2199	4282	6481	198791196	SO:0001587	stop_gained	9928	exon28			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4363G>T	1.37:g.200524573C>A	ENSP00000356319:p.Glu1455*		198791196	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Nonsense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	45	11.675202	0.99590	.	.	ENSG00000118193	ENST00000367350	.	.	.	4.97	2.94	0.34122	.	0.768392	0.12153	N	0.494681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.2363	0.37468	0.0:0.1542:0.6824:0.1634	.	.	.	.	X	1455	.	ENSP00000356319:E1455X	E	-	1	0	KIF14	198791196	0.913000	0.31002	0.763000	0.31416	0.857000	0.48899	2.785000	0.47782	1.301000	0.44836	-0.165000	0.13383	GAA		0.264	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200534701	200534701	+	Missense_Mutation	SNP	A	A	C	rs577782006		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200534701A>C	ENST00000367350.4	-	24	4196	c.3758T>G	c.(3757-3759)tTt>tGt	p.F1253C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1253	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.F1253C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ACTCTGTCCAAAAAAATCTAA	0.333																																					p.F1253C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3758G	1						.						59.0	60.0	60.0					1																	200534701		2201	4300	6501	198801324	SO:0001583	missense	9928	exon24			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3758T>G	1.37:g.200534701A>C	ENSP00000356319:p.Phe1253Cys		198801324	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935578	0.52866	.	.	ENSG00000118193	ENST00000367350	T	0.73363	-0.74	5.57	5.57	0.84162	.	0.155169	0.44097	D	0.000491	T	0.58637	0.2136	N	0.08118	0	0.21553	N	0.999646	B	0.29805	0.257	B	0.30179	0.112	T	0.59925	-0.7362	10	0.87932	D	0	.	15.7225	0.77724	1.0:0.0:0.0:0.0	.	1253	Q15058	KIF14_HUMAN	C	1253	ENSP00000356319:F1253C	ENSP00000356319:F1253C	F	-	2	0	KIF14	198801324	1.000000	0.71417	0.552000	0.28243	0.952000	0.60782	6.783000	0.75078	2.117000	0.64856	0.482000	0.46254	TTT		0.333	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200573037	200573037	+	Missense_Mutation	SNP	C	C	T	rs373895990		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200573037C>T	ENST00000367350.4	-	9	2231	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	598	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R598Q(3)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGGTTAATTCGACTTGTTAT	0.368																																					p.R598Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1793A	1						.						127.0	119.0	122.0					1																	200573037		2203	4300	6503	198839660	SO:0001583	missense	9928	exon9			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1793G>A	1.37:g.200573037C>T	ENSP00000356319:p.Arg598Gln		198839660	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473371	0.84640	.	.	ENSG00000118193	ENST00000367350	T	0.74737	-0.87	5.31	5.31	0.75309	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.056634	0.64402	D	0.000001	T	0.78084	0.4228	L	0.31578	0.945	0.50813	D	0.999896	D	0.89917	1.0	D	0.72982	0.979	T	0.79446	-0.1800	10	0.59425	D	0.04	.	12.7829	0.57487	0.0:0.9144:0.0:0.0856	.	598	Q15058	KIF14_HUMAN	Q	598	ENSP00000356319:R598Q	ENSP00000356319:R598Q	R	-	2	0	KIF14	198839660	1.000000	0.71417	0.977000	0.42913	0.497000	0.33675	5.709000	0.68384	2.481000	0.83766	0.585000	0.79938	CGA		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200574488	200574488	+	Missense_Mutation	SNP	C	C	T	rs371145728		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200574488C>T	ENST00000367350.4	-	8	2107	c.1669G>A	c.(1669-1671)Gct>Act	p.A557T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	557	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.A557T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCAGCAGTAGCTCTTTGTTTA	0.368																																					p.A557T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1669A	1						.	C	THR/ALA	0,4406		0,0,2203	93.0	100.0	97.0		1669	5.4	0.1	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF14	NM_014875.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	557/1649	200574488	1,13005	2203	4300	6503	198841111	SO:0001583	missense	9928	exon8			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1669G>A	1.37:g.200574488C>T	ENSP00000356319:p.Ala557Thr		198841111	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114458	0.77210	0.0	1.16E-4	ENSG00000118193	ENST00000367350	T	0.74526	-0.85	5.45	5.45	0.79879	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	N	0.04203	-0.255	0.80722	D	1	P	0.40578	0.722	P	0.49953	0.627	T	0.68010	-0.5522	10	0.27082	T	0.32	.	19.2887	0.94090	0.0:1.0:0.0:0.0	.	557	Q15058	KIF14_HUMAN	T	557	ENSP00000356319:A557T	ENSP00000356319:A557T	A	-	1	0	KIF14	198841111	1.000000	0.71417	0.114000	0.21550	0.963000	0.63663	7.429000	0.80309	2.535000	0.85469	0.650000	0.86243	GCT		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
KIF14	9928	broad.mit.edu	37	1	200578009	200578009	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200578009T>G	ENST00000367350.4	-	5	1941	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	501	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.K501N(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGTCGTGAATTTTTTCATTAT	0.284																																					p.K501N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1503C	1						.						47.0	51.0	50.0					1																	200578009		2200	4289	6489	198844632	SO:0001583	missense	9928	exon5			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1503A>C	1.37:g.200578009T>G	ENSP00000356319:p.Lys501Asn		198844632	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.917373	0.73098	.	.	ENSG00000118193	ENST00000367350	T	0.75821	-0.97	5.47	4.35	0.52113	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	L	0.56769	1.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.82165	-0.0592	10	0.87932	D	0	.	8.1537	0.31156	0.0:0.1512:0.0:0.8488	.	501	Q15058	KIF14_HUMAN	N	501	ENSP00000356319:K501N	ENSP00000356319:K501N	K	-	3	2	KIF14	198844632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.552000	0.36244	2.072000	0.62099	0.528000	0.53228	AAA		0.284	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
DDX59	83479	broad.mit.edu	37	1	200635470	200635470	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200635470C>T	ENST00000331314.6	-	2	612	c.399G>A	c.(397-399)gcG>gcA	p.A133A	DDX59_ENST00000447706.2_Silent_p.A133A|DDX59_ENST00000367348.3_Silent_p.A133A	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	133						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.A133A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GAAGATGTTTCGCTTTACACT	0.438																																					p.A133A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G399A	1						.						101.0	101.0	101.0					1																	200635470		2203	4300	6503	198902093	SO:0001819	synonymous_variant	83479	exon2			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.399G>A	1.37:g.200635470C>T			198902093	NM_001031725	Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	CCDS30964.1																																																																																				0.438	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
CAMSAP2	23271	broad.mit.edu	37	1	200776524	200776524	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:200776524C>T	ENST00000236925.4	+	3	469	c.420C>T	c.(418-420)atC>atT	p.I140I	CAMSAP2_ENST00000413307.2_Silent_p.I140I|CAMSAP2_ENST00000358823.2_Silent_p.I140I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	140					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.I140I(1)									TGGCCATGATCGATACCCTCA	0.318																																					p.I140I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420T	1						.						88.0	81.0	83.0					1																	200776524		2203	4300	6503	199043147	SO:0001819	synonymous_variant	23271	exon3			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.420C>T	1.37:g.200776524C>T			199043147	NM_203459	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37																																																																																					0.318	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
CACNA1S	779	broad.mit.edu	37	1	201009832	201009832	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201009832C>A	ENST00000362061.3	-	42	5370	c.5144G>T	c.(5143-5145)aGc>aTc	p.S1715I	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S1696I|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1715					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S1715I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGGGTTTGCTGTGGGGTCC	0.622																																					p.S1715I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5144T	1						.						42.0	39.0	40.0					1																	201009832		2203	4300	6503	199276455	SO:0001583	missense	779	exon42			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5144G>T	1.37:g.201009832C>A	ENSP00000355192:p.Ser1715Ile		199276455	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	10.17	1.277716	0.23307	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96136	-3.92;-3.84	4.79	2.77	0.32553	.	449.682000	0.00166	N	0.000000	D	0.90776	0.7104	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80231	-0.1468	10	0.22706	T	0.39	.	5.7317	0.18042	0.0:0.6923:0.1992:0.1085	.	1715	Q13698	CAC1S_HUMAN	I	1715;1696	ENSP00000355192:S1715I;ENSP00000356307:S1696I	ENSP00000355192:S1715I	S	-	2	0	CACNA1S	199276455	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	0.123000	0.15708	1.007000	0.39238	0.585000	0.79938	AGC		0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CACNA1S	779	broad.mit.edu	37	1	201052428	201052428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201052428G>A	ENST00000362061.3	-	10	1481	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R419C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	419					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R419C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAAAGATGCGGTTCCACTGC	0.542																																					p.R419C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1255T	1						.						192.0	158.0	170.0					1																	201052428		2203	4300	6503	199319051	SO:0001583	missense	779	exon10			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1255C>T	1.37:g.201052428G>A	ENSP00000355192:p.Arg419Cys		199319051	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790457	0.90367	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96967	-4.19;-4.09	4.59	4.59	0.56863	.	0.105688	0.64402	D	0.000003	D	0.98457	0.9486	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.99808	1.1039	10	0.87932	D	0	.	17.7262	0.88366	0.0:0.0:1.0:0.0	.	419	Q13698	CAC1S_HUMAN	C	419	ENSP00000355192:R419C;ENSP00000356307:R419C	ENSP00000355192:R419C	R	-	1	0	CACNA1S	199319051	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.705000	0.98719	2.232000	0.73038	0.643000	0.83706	CGC		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
CACNA1S	779	broad.mit.edu	37	1	201063114	201063114	+	Silent	SNP	C	C	T	rs201012916		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201063114C>T	ENST00000362061.3	-	3	520	c.294G>A	c.(292-294)tcG>tcA	p.S98S	CACNA1S_ENST00000367338.3_Silent_p.S98S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	98					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S98S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCTTCAATCGAGAAGACAA	0.527																																					p.S98S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	1						.						86.0	86.0	86.0					1																	201063114		2203	4300	6503	199329737	SO:0001819	synonymous_variant	779	exon3			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.294G>A	1.37:g.201063114C>T			199329737	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
PKP1	5317	broad.mit.edu	37	1	201297899	201297899	+	Missense_Mutation	SNP	G	G	A	rs201180970		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201297899G>A	ENST00000352845.3	+	14	2179	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	PKP1_ENST00000367324.3_Missense_Mutation_p.D706N|PKP1_ENST00000263946.3_Missense_Mutation_p.D727N			Q13835	PKP1_HUMAN	plakophilin 1	727					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)	p.D706N(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCAAGGTTTCGATAGGAACAT	0.527																																					p.D727N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2179A	1						.						175.0	166.0	169.0					1																	201297899		2203	4300	6503	199564522	SO:0001583	missense	5317	exon14			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.2179G>A	1.37:g.201297899G>A	ENSP00000295597:p.Asp727Asn		199564522	NM_000299	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233932	0.58886	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.73047	-0.71;-0.59;-0.59	4.28	3.36	0.38483	.	0.374093	0.27275	N	0.020115	T	0.53610	0.1807	L	0.27053	0.805	0.33040	D	0.531273	P;P;P	0.40107	0.608;0.614;0.703	B;B;B	0.34301	0.179;0.168;0.115	T	0.62845	-0.6768	10	0.33940	T	0.23	-16.165	12.4696	0.55779	0.083:0.0:0.917:0.0	.	314;706;727	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	N	706;727;727	ENSP00000356293:D706N;ENSP00000263946:D727N;ENSP00000295597:D727N	ENSP00000263946:D727N	D	+	1	0	PKP1	199564522	1.000000	0.71417	0.375000	0.26029	0.910000	0.53928	4.636000	0.61339	0.906000	0.36621	0.511000	0.50034	GAT		0.527	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299	
LAD1	3898	broad.mit.edu	37	1	201355818	201355818	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201355818C>A	ENST00000391967.2	-	3	972	c.671G>T	c.(670-672)aGa>aTa	p.R224I	LAD1_ENST00000367313.3_Missense_Mutation_p.R238I	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	224	8 X SEK repeats.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.R224I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGAGCTGTTTCTTTTCTCTGA	0.502																																					p.R224I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G671T	1						.						101.0	111.0	108.0					1																	201355818		2203	4300	6503	199622441	SO:0001583	missense	3898	exon3			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.671G>T	1.37:g.201355818C>A	ENSP00000375829:p.Arg224Ile		199622441	NM_005558	O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118295	0.37339	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.12774	2.65;2.66	4.86	-1.43	0.08884	.	0.957919	0.08702	N	0.906343	T	0.07369	0.0186	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.29432	0.244;0.218	B;B	0.31101	0.022;0.124	T	0.40664	-0.9551	10	0.32370	T	0.25	-0.3712	2.8269	0.05488	0.2789:0.3566:0.2742:0.0902	.	238;224	E9PDI4;O00515	.;LAD1_HUMAN	I	224;238	ENSP00000375829:R224I;ENSP00000356282:R238I	ENSP00000356282:R238I	R	-	2	0	LAD1	199622441	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.761000	0.04751	0.027000	0.15297	0.609000	0.83330	AGA		0.502	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558	
LMOD1	25802	broad.mit.edu	37	1	201868488	201868488	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201868488C>A	ENST00000367288.4	-	2	1899	c.1653G>T	c.(1651-1653)aaG>aaT	p.K551N	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	551					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.K551N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGAGTGAATTCTTCAGGTTCT	0.582																																					p.K551N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1653T	1						.						25.0	28.0	27.0					1																	201868488		1853	4089	5942	200135111	SO:0001583	missense	25802	exon2			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1653G>T	1.37:g.201868488C>A	ENSP00000356257:p.Lys551Asn		200135111	NM_012134	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522630	0.64747	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.83163	-1.69	4.97	4.97	0.65823	.	0.344301	0.21073	N	0.080631	T	0.80854	0.4703	L	0.57536	1.79	0.42535	D	0.99305	P;P	0.44429	0.835;0.835	B;B	0.43445	0.329;0.42	T	0.82768	-0.0294	10	0.72032	D	0.01	-27.6942	9.3686	0.38239	0.0:0.902:0.0:0.098	.	500;551	B4E3S9;P29536	.;LMOD1_HUMAN	N	551;551;500	ENSP00000356257:K551N	ENSP00000356257:K551N	K	-	3	2	LMOD1	200135111	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.205000	0.51090	2.253000	0.74438	0.655000	0.94253	AAG		0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2		
RNPEP	6051	broad.mit.edu	37	1	201966452	201966452	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:201966452A>G	ENST00000295640.4	+	5	903	c.860A>G	c.(859-861)gAc>gGc	p.D287G	RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.5_ENST00000608886.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.D248G|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	287					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.D287G(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GGCAGGTATGACTTGCTCTTC	0.587																																					p.D287G	GBM(19;39 479 7473 13131 19462)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A860G	1						.						78.0	78.0	78.0					1																	201966452		2203	4300	6503	200233075	SO:0001583	missense	6051	exon5			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.860A>G	1.37:g.201966452A>G	ENSP00000295640:p.Asp287Gly		200233075	NM_020216	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289513	0.59976	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312;ENST00000449524	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	H	0.95470	3.675	0.80722	D	1	P;P	0.47409	0.895;0.895	P;P	0.61328	0.766;0.887	T	0.19031	-1.0318	10	0.87932	D	0	-32.3081	13.8782	0.63667	1.0:0.0:0.0:0.0	.	295;287	Q7RU04;Q9H4A4	.;AMPB_HUMAN	G	287;248;156;33	ENSP00000295640:D287G;ENSP00000356255:D248G;ENSP00000389602:D156G;ENSP00000407614:D33G	ENSP00000295640:D287G	D	+	2	0	RNPEP	200233075	1.000000	0.71417	0.927000	0.36925	0.811000	0.45836	8.862000	0.92283	1.914000	0.55421	0.523000	0.50628	GAC		0.587	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216	
PTPN7	5778	broad.mit.edu	37	1	202127249	202127249	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202127249G>T	ENST00000308986.5	-	3	433	c.303C>A	c.(301-303)ttC>ttA	p.F101L	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000367279.4_Missense_Mutation_p.F140L|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000309017.3_Missense_Mutation_p.F206L			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	101	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.F140L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						TTCTTACCAAGAATTCTTCTT	0.602																																					p.F175L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C525A	1						.						52.0	51.0	52.0					1																	202127249		2203	4300	6503	200393872	SO:0001583	missense	5778	exon3			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.303C>A	1.37:g.202127249G>T	ENSP00000311133:p.Phe101Leu		200393872	NM_001199797	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635535|3.635535	0.67130|0.67130	.|.	.|.	ENSG00000143851|ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000477554;ENST00000476061;ENST00000467283;ENST00000464870;ENST00000486116;ENST00000492451|ENST00000435759	T;T;T;T;T;T;T;T;T|.	0.62639|.	2.16;2.16;2.16;2.16;2.03;2.03;2.03;1.27;0.01|.	5.03|5.03	0.983|0.983	0.19767|0.19767	Protein-tyrosine phosphatase, receptor/non-receptor type (2);|.	0.000000|.	0.64402|.	D|.	0.000008|.	T|T	0.75466|0.75466	0.3853|0.3853	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.81914|.	0.991;0.949;0.983;0.988;0.995|.	T|T	0.77950|0.77950	-0.2395|-0.2395	10|6	0.87932|0.87932	D|D	0|0	.|.	10.3183|10.3183	0.43751|0.43751	0.3907:0.0:0.6093:0.0|0.3907:0.0:0.6093:0.0	.|.	175;49;53;101;140|.	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2|.	.;.;.;PTN7_HUMAN;.|.	L|I	140;206;101;182;100;101;101;101;101|108	ENSP00000356248:F140L;ENSP00000309116:F206L;ENSP00000311133:F101L;ENSP00000418416:F182L;ENSP00000419993:F100L;ENSP00000418837:F101L;ENSP00000420434:F101L;ENSP00000417350:F101L;ENSP00000417410:F101L|.	ENSP00000311133:F101L|ENSP00000406042:L108I	F|L	-|-	3|1	2|0	PTPN7|PTPN7	200393872|200393872	0.159000|0.159000	0.22864|0.22864	0.893000|0.893000	0.35052|0.35052	0.872000|0.872000	0.50106|0.50106	0.470000|0.470000	0.22084|0.22084	0.516000|0.516000	0.28340|0.28340	0.462000|0.462000	0.41574|0.41574	TTC|CTT		0.602	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832	
PPP1R12B	4660	broad.mit.edu	37	1	202409840	202409840	+	Nonsense_Mutation	SNP	G	G	T	rs112006906|rs567694055	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202409840G>T	ENST00000608999.1	+	11	1618	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.E489*	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	489					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.E489*(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACAGGAGAGAGAAAACAAAAG	0.348																																					p.E489X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1465T	1						.						102.0	103.0	102.0					1																	202409840		2203	4300	6503	200676463	SO:0001587	stop_gained	4660	exon11			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1465G>T	1.37:g.202409840G>T	ENSP00000476755:p.Glu489*		200676463	NM_002481	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Nonsense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	40	8.048857	0.98627	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	.	.	.	5.96	5.05	0.67936	.	0.163581	0.43416	D	0.000580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	14.7832	0.69781	0.0695:0.0:0.9305:0.0	.	.	.	.	X	489	.	ENSP00000337897:E489X	E	+	1	0	PPP1R12B	200676463	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.412000	0.73303	1.524000	0.49035	0.655000	0.94253	GAA		0.348	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
PPP1R12B	4660	broad.mit.edu	37	1	202464749	202464749	+	Missense_Mutation	SNP	G	G	A	rs3817221		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202464749G>A	ENST00000608999.1	+	17	2540	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R22Q|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R22Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R796Q|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	796					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.R796Q(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGTCCATCCGAGAGAGGAGG	0.463																																					p.R796Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387A	1						.						90.0	91.0	91.0					1																	202464749		2203	4300	6503	200731372	SO:0001583	missense	4660	exon17			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2387G>A	1.37:g.202464749G>A	ENSP00000476755:p.Arg796Gln		200731372	NM_002481	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129886	0.94473	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.51817	1.02;1.03;0.7;0.69	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000025	T	0.63733	0.2536	L	0.52206	1.635	0.46260	D	0.998951	D;D;D	0.89917	0.98;1.0;1.0	P;D;D	0.79108	0.664;0.992;0.968	T	0.61676	-0.7014	10	0.49607	T	0.09	.	16.7828	0.85567	0.0:0.0:1.0:0.0	rs3817221;rs3817221	22;796;796	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	Q	796;796;22;22	ENSP00000384496:R796Q;ENSP00000337897:R796Q;ENSP00000375821:R22Q;ENSP00000356239:R22Q	ENSP00000337897:R796Q	R	+	2	0	PPP1R12B	200731372	1.000000	0.71417	0.902000	0.35471	0.663000	0.39108	6.869000	0.75521	2.768000	0.95171	0.655000	0.94253	CGA		0.463	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
SYT2	127833	broad.mit.edu	37	1	202571113	202571113	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202571113C>A	ENST00000367267.1	-	6	898	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	SYT2_ENST00000367268.4_Missense_Mutation_p.D236Y|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	236	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.D236Y(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCAATGATGTCATGTTTGGAG	0.547																																					p.D236Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706T	1						.						174.0	158.0	163.0					1																	202571113		2203	4300	6503	200837736	SO:0001583	missense	127833	exon6			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.706G>T	1.37:g.202571113C>A	ENSP00000356236:p.Asp236Tyr		200837736	NM_177402	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829939	0.91036	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.72394	-0.65;-0.65	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92700	0.6174	10	0.87932	D	0	.	18.9002	0.92439	0.0:1.0:0.0:0.0	.	236	Q8N9I0	SYT2_HUMAN	Y	236	ENSP00000356237:D236Y;ENSP00000356236:D236Y	ENSP00000356236:D236Y	D	-	1	0	SYT2	200837736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.794000	0.85869	2.558000	0.86282	0.563000	0.77884	GAC		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
OTUD3	23252	broad.mit.edu	37	1	20231475	20231475	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:20231475G>T	ENST00000375120.3	+	6	831	c.830G>T	c.(829-831)aGa>aTa	p.R277I		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	277					protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.R277I(2)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGGAAGAGAAATAGTAAG	0.323																																					p.R277I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G830T	1						.						61.0	62.0	61.0					1																	20231475		1809	4066	5875	20104062	SO:0001583	missense	23252	exon6			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.830G>T	1.37:g.20231475G>T	ENSP00000364261:p.Arg277Ile		20104062	NM_015207	O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810203	0.16537	.	.	ENSG00000169914	ENST00000375120	T	0.23348	1.91	6.06	3.24	0.37175	.	0.536286	0.21772	N	0.069352	T	0.16557	0.0398	L	0.29908	0.895	0.47547	D	0.999453	B	0.06786	0.001	B	0.04013	0.001	T	0.06092	-1.0846	10	0.37606	T	0.19	.	6.6683	0.23054	0.147:0.0:0.7088:0.1442	.	277	Q5T2D3	OTUD3_HUMAN	I	277	ENSP00000364261:R277I	ENSP00000364261:R277I	R	+	2	0	OTUD3	20104062	1.000000	0.71417	0.964000	0.40570	0.178000	0.23041	2.321000	0.43805	0.476000	0.27440	-0.746000	0.03513	AGA		0.323	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1		
SYT2	127833	broad.mit.edu	37	1	202571575	202571575	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202571575C>A	ENST00000367267.1	-	5	756	c.564G>T	c.(562-564)aaG>aaT	p.K188N	SYT2_ENST00000367268.4_Missense_Mutation_p.K188N|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	188	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.K188N(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CATATTTCTTCTTCTTGTCAG	0.532																																					p.K188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	1						.						136.0	127.0	130.0					1																	202571575		2203	4300	6503	200838198	SO:0001583	missense	127833	exon5			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.564G>T	1.37:g.202571575C>A	ENSP00000356236:p.Lys188Asn		200838198	NM_177402	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621651	0.87460	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.70399	-0.48;-0.48	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.81816	-0.0759	10	0.87932	D	0	.	12.5398	0.56163	0.0:0.9231:0.0:0.0769	.	188	Q8N9I0	SYT2_HUMAN	N	188	ENSP00000356237:K188N;ENSP00000356236:K188N	ENSP00000356236:K188N	K	-	3	2	SYT2	200838198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.360000	0.52299	2.626000	0.88956	0.655000	0.94253	AAG		0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
RABIF	5877	broad.mit.edu	37	1	202850139	202850139	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202850139G>T	ENST00000367262.3	-	2	375	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	113					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)	p.F113L(1)		large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGGCCACATAGAAACTGTTCT	0.493																																					p.F113L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C339A	1						.						121.0	107.0	111.0					1																	202850139		2203	4300	6503	201116762	SO:0001583	missense	5877	exon2			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.339C>A	1.37:g.202850139G>T	ENSP00000356231:p.Phe113Leu		201116762	NM_002871	B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	37	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375801	0.82682	.	.	ENSG00000183155	ENST00000367262	.	.	.	5.81	3.93	0.45458	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.77064	-0.2726	9	0.39692	T	0.17	-41.698	9.9876	0.41852	0.2111:0.0:0.7889:0.0	.	113	P47224	MSS4_HUMAN	L	113	.	ENSP00000356231:F113L	F	-	3	2	RABIF	201116762	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.863000	0.48396	1.477000	0.48234	-0.258000	0.10820	TTC		0.493	RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1		
ADIPOR1	51094	broad.mit.edu	37	1	202911345	202911345	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202911345G>A	ENST00000340990.5	-	7	1105	c.807C>T	c.(805-807)ggC>ggT	p.G269G	ADIPOR1_ENST00000436244.1_Splice_Site_p.G269G	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	269					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)	p.G269G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCAGGAACACGCCTGAACAGA	0.507																																					p.G269G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C807T	1						.						61.0	58.0	59.0					1																	202911345		2203	4300	6503	201177968	SO:0001630	splice_region_variant	51094	exon8				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.806-1C>T	1.37:g.202911345G>A			201177968	NM_001127687	B3KMB0|Q53HS7|Q53YY6|Q9Y360	Silent	SNP	ENST00000340990.5	37	CCDS1430.1																																																																																				0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999	Silent
CYB5R1	51706	broad.mit.edu	37	1	202932233	202932233	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:202932233G>A	ENST00000367249.4	-	8	780	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	236					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.R236C(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGCTTAAAGCGATTGGGATAG	0.483																																					p.R236C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	1						.						122.0	117.0	119.0					1																	202932233		2203	4300	6503	201198856	SO:0001583	missense	51706	exon8			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.706C>T	1.37:g.202932233G>A	ENSP00000356218:p.Arg236Cys		201198856	NM_016243	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333924	0.81801	.	.	ENSG00000159348	ENST00000367249	D	0.95307	-3.67	5.98	5.98	0.97165	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	H	0.98542	4.26	0.80722	D	1	P	0.44260	0.83	B	0.44133	0.442	D	0.98333	1.0534	10	0.87932	D	0	-3.4644	17.9305	0.88996	0.0:0.0:1.0:0.0	.	236	Q9UHQ9	NB5R1_HUMAN	C	236	ENSP00000356218:R236C	ENSP00000356218:R236C	R	-	1	0	CYB5R1	201198856	0.900000	0.30661	0.955000	0.39395	0.950000	0.60333	4.154000	0.58125	2.837000	0.97791	0.591000	0.81541	CGC		0.483	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243	
PPFIA4	8497	broad.mit.edu	37	1	203037706	203037706	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203037706G>A	ENST00000447715.2	+	32	3649	c.3208G>A	c.(3208-3210)Gac>Aac	p.D1070N	PPFIA4_ENST00000295706.4_Missense_Mutation_p.D577N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.D586N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.D799N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.D1071N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.D577N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	1070	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.D1216N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CGAGAACTTCGACCACAACAC	0.562																																					p.D586N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1756A	1						.						66.0	67.0	67.0					1																	203037706		2080	4205	6285	201304329	SO:0001583	missense	8497	exon14			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.3208G>A	1.37:g.203037706G>A	ENSP00000402576:p.Asp1070Asn		201304329	NM_015053	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.366628	0.95900	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	3.59	3.59	0.41128	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.42964	U	0.000631	D	0.89347	0.6689	M	0.66439	2.03	0.58432	D	0.999999	B;D;P;D;D	0.62365	0.099;0.991;0.647;0.989;0.991	B;P;B;P;P	0.57548	0.061;0.799;0.143;0.729;0.823	D	0.91240	0.5021	10	0.87932	D	0	-20.253	15.7465	0.77949	0.0:0.0:1.0:0.0	.	799;1070;272;577;586	B4DIS5;B1N949;B3KN22;O75335-2;O75335	.;.;.;.;LIPA4_HUMAN	N	1071;1070;577;799;586	ENSP00000356209:D1071N;ENSP00000402576:D1070N;ENSP00000295706:D577N;ENSP00000400379:D799N;ENSP00000272198:D586N	ENSP00000272198:D586N	D	+	1	0	PPFIA4	201304329	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	9.522000	0.98032	2.010000	0.58986	0.555000	0.69702	GAC		0.562	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
MYOG	4656	broad.mit.edu	37	1	203054999	203054999	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203054999C>T	ENST00000241651.4	-	1	165	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	31					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E31K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGTGGTTCGAAGCCCTGG	0.637																																					p.E31K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91A	1						.						50.0	47.0	48.0					1																	203054999		2203	4300	6503	201321622	SO:0001583	missense	4656	exon1			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.91G>A	1.37:g.203054999C>T	ENSP00000241651:p.Glu31Lys		201321622	NM_002479	Q53XW6	Missense_Mutation	SNP	ENST00000241651.4	37	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.774527	0.90108	.	.	ENSG00000122180	ENST00000241651	T	0.80214	-1.35	5.68	5.68	0.88126	Myogenic basic muscle-specific protein (2);	0.401828	0.27654	N	0.018407	T	0.78672	0.4320	M	0.74258	2.255	0.58432	D	0.999994	B	0.33612	0.419	B	0.27170	0.077	T	0.79926	-0.1597	10	0.66056	D	0.02	.	13.0541	0.58969	0.0:0.9267:0.0:0.0733	.	31	P15173	MYOG_HUMAN	K	31	ENSP00000241651:E31K	ENSP00000241651:E31K	E	-	1	0	MYOG	201321622	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.539000	0.67199	2.679000	0.91253	0.558000	0.71614	GAA		0.637	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100279.1	NM_002479	
ADORA1	134	broad.mit.edu	37	1	203098042	203098042	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203098042C>T	ENST00000367236.4	+	2	994	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	ADORA1_ENST00000337894.4_Missense_Mutation_p.P25S|ADORA1_ENST00000367235.1_Missense_Mutation_p.P25S|RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000309502.3_Missense_Mutation_p.P25S	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	25					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)	p.P25S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	GGTCTCTGTGCCCGGGAACGT	0.652																																					p.P25S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C73T	1						.						169.0	126.0	141.0					1																	203098042		2203	4300	6503	201364665	SO:0001583	missense	134	exon2			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.73C>T	1.37:g.203098042C>T	ENSP00000356205:p.Pro25Ser		201364665	NM_001048230	A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634110	0.47049	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.05	5.05	0.67936	.	0.288318	0.40144	N	0.001174	T	0.23492	0.0568	N	0.02334	-0.595	0.40609	D	0.981657	P;B	0.45531	0.86;0.013	P;B	0.45343	0.477;0.017	T	0.38757	-0.9646	10	0.48119	T	0.1	-17.5135	18.4106	0.90549	0.0:1.0:0.0:0.0	.	58;25	B7Z379;P30542	.;AA1R_HUMAN	S	25	ENSP00000308549:P25S;ENSP00000356205:P25S;ENSP00000338435:P25S;ENSP00000356204:P25S	ENSP00000308549:P25S	P	+	1	0	ADORA1	201364665	0.997000	0.39634	0.986000	0.45419	0.936000	0.57629	1.630000	0.37081	2.338000	0.79540	0.603000	0.83216	CCC		0.652	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674	
CHI3L1	1116	broad.mit.edu	37	1	203151867	203151867	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203151867C>A	ENST00000255409.3	-	6	704	c.579G>T	c.(577-579)aaG>aaT	p.K193N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	193					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.K193N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						ACTGGGATATCTTGGCAATGT	0.567																																					p.K193N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G579T	1						.						117.0	104.0	108.0					1																	203151867		2203	4300	6503	201418490	SO:0001583	missense	1116	exon6			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.579G>T	1.37:g.203151867C>A	ENSP00000255409:p.Lys193Asn		201418490	NM_001276	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.231|8.231	0.804593|0.804593	0.16467|0.16467	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000404436|ENST00000255409	.|T	.|0.05996	.|3.36	5.4|5.4	2.43|2.43	0.29744|0.29744	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.778290	.|0.11283	.|N	.|0.580061	T|T	0.04861|0.04861	0.0131|0.0131	L|L	0.35341|0.35341	1.055|1.055	0.23016|0.23016	N|N	0.998422|0.998422	.|B	.|0.33883	.|0.43	.|B	.|0.29862	.|0.108	T|T	0.36792|0.36792	-0.9733|-0.9733	5|10	.|0.54805	.|T	.|0.06	-7.1391|-7.1391	4.5981|4.5981	0.12340|0.12340	0.0:0.5925:0.1839:0.2236|0.0:0.5925:0.1839:0.2236	.|.	.|193	.|P36222	.|CH3L1_HUMAN	Y|N	23|193	.|ENSP00000255409:K193N	.|ENSP00000255409:K193N	D|K	-|-	1|3	0|2	CHI3L1|CHI3L1	201418490|201418490	0.760000|0.760000	0.28428|0.28428	0.019000|0.019000	0.16419|0.16419	0.237000|0.237000	0.25408|0.25408	0.277000|0.277000	0.18734|0.18734	1.229000|1.229000	0.43630|0.43630	0.561000|0.561000	0.74099|0.74099	GAT|AAG		0.567	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276	
CHIT1	1118	broad.mit.edu	37	1	203192283	203192283	+	Silent	SNP	G	G	A	rs114168492	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203192283G>A	ENST00000367229.1	-	6	619	c.585C>T	c.(583-585)taC>taT	p.Y195Y	CHIT1_ENST00000535569.1_Silent_p.Y186Y|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.Y176Y	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	195					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.Y195Y(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGTCCACCTCGTATCCAGCAT	0.577													G|||	8	0.00159744	0.0045	0.0	5008	,	,		20758	0.0		0.002	False		,,,				2504	0.0				p.Y195Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	1						.	G		35,4371	38.4+/-70.7	0,35,2168	145.0	137.0	139.0		585	-8.2	0.0	1	dbSNP_132	139	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CHIT1	NM_003465.2		0,44,6459	AA,AG,GG		0.1047,0.7944,0.3383		195/467	203192283	44,12962	2203	4300	6503	201458906	SO:0001819	synonymous_variant	1118	exon6			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.585C>T	1.37:g.203192283G>A			201458906	NM_003465	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	CCDS1436.1																																																																																				0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465	
FMOD	2331	broad.mit.edu	37	1	203316631	203316631	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203316631G>T	ENST00000354955.4	-	2	1231	c.768C>A	c.(766-768)gtC>gtA	p.V256V	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	256					carbohydrate metabolic process (GO:0005975)|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)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.V256V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGACGGTGTAGACATTGTTGT	0.567																																					p.V256V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768A	1						.						104.0	100.0	101.0					1																	203316631		2203	4300	6503	201583254	SO:0001819	synonymous_variant	2331	exon2			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.768C>A	1.37:g.203316631G>T			201583254	NM_002023	Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	CCDS30976.1																																																																																				0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023	
PRELP	5549	broad.mit.edu	37	1	203452712	203452712	+	Missense_Mutation	SNP	G	G	T	rs574411918		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203452712G>T	ENST00000343110.2	+	2	527	c.400G>T	c.(400-402)Gac>Tac	p.D134Y		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	134					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.D134Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GATTAACCTGGACAACAACCG	0.557																																					p.D134Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400T	1						.						88.0	87.0	88.0					1																	203452712		2203	4300	6503	201719335	SO:0001583	missense	5549	exon2			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.400G>T	1.37:g.203452712G>T	ENSP00000343924:p.Asp134Tyr		201719335	NM_002725	Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346727	0.61073	.	.	ENSG00000188783	ENST00000343110	T	0.57752	0.38	4.71	4.71	0.59529	.	0.190722	0.46145	D	0.000317	T	0.53932	0.1827	L	0.27944	0.81	0.51482	D	0.999929	D	0.61080	0.989	P	0.61201	0.885	T	0.44772	-0.9306	10	0.09843	T	0.71	-16.2896	16.2483	0.82460	0.0:0.0:1.0:0.0	.	134	P51888	PRELP_HUMAN	Y	134	ENSP00000343924:D134Y	ENSP00000343924:D134Y	D	+	1	0	PRELP	201719335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.088000	0.71371	2.165000	0.68154	0.462000	0.41574	GAC		0.557	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
OPTC	26254	broad.mit.edu	37	1	203467859	203467859	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203467859G>A	ENST00000367222.2	+	4	537	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	141	LRRNT.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.D141N(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGTATTGCGATGACATTGA	0.562																																					p.D141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	1						.						167.0	129.0	142.0					1																	203467859		2203	4300	6503	201734482	SO:0001583	missense	26254	exon4			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.421G>A	1.37:g.203467859G>A	ENSP00000356191:p.Asp141Asn		201734482	NM_014359	Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527220	0.85706	.	.	ENSG00000188770	ENST00000367222	T	0.02446	4.29	4.85	3.94	0.45596	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	M	0.77820	2.39	0.53688	D	0.999976	D	0.71674	0.998	P	0.58391	0.838	T	0.00775	-1.1571	10	0.72032	D	0.01	-17.5731	11.7228	0.51691	0.0861:0.0:0.9139:0.0	.	141	Q9UBM4	OPT_HUMAN	N	141	ENSP00000356191:D141N	ENSP00000356191:D141N	D	+	1	0	OPTC	201734482	1.000000	0.71417	0.078000	0.20375	0.878000	0.50629	5.453000	0.66645	1.263000	0.44181	0.561000	0.74099	GAT		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359	
ATP2B4	493	broad.mit.edu	37	1	203671198	203671198	+	Missense_Mutation	SNP	C	C	T	rs141117629		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203671198C>T	ENST00000357681.5	+	7	2051	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	ATP2B4_ENST00000367219.3_Intron|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R310C|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R310C|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R310C	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	310					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.R310C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCCTGAAAATCGCAACAAAGG	0.433											OREG0014124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R310C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C928T	1						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	136.0	132.0	133.0		928,928	5.7	1.0	1	dbSNP_134	133	0,8600		0,0,4300	no	missense,missense	ATP2B4	NM_001001396.2,NM_001684.4	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	310/1171,310/1206	203671198	1,13005	2203	4300	6503	201937821	SO:0001583	missense	493	exon7			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.928C>T	1.37:g.203671198C>T	ENSP00000350310:p.Arg310Cys	2138	201937821	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.493980	0.64186	2.27E-4	0.0	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000391954;ENST00000341360	D;D;D;D	0.93307	-3.19;-3.2;-3.18;-3.2	5.65	5.65	0.86999	ATPase, P-type, ATPase-associated domain (1);	.	.	.	.	D	0.92424	0.7595	N	0.08118	0	0.80722	D	1	B;B;D	0.89917	0.044;0.043;1.0	B;B;D	0.65773	0.027;0.008;0.938	D	0.94031	0.7301	9	0.56958	D	0.05	-9.5457	18.4987	0.90874	0.0:1.0:0.0:0.0	.	310;310;310	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	C	310	ENSP00000350310:R310C;ENSP00000356187:R310C;ENSP00000375816:R310C;ENSP00000340930:R310C	ENSP00000340930:R310C	R	+	1	0	ATP2B4	201937821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	2.673000	0.90976	0.557000	0.71058	CGC		0.433	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
ATP2B4	493	broad.mit.edu	37	1	203672838	203672838	+	Silent	SNP	C	C	T	rs576322841		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203672838C>T	ENST00000357681.5	+	8	2119	c.996C>T	c.(994-996)atC>atT	p.I332I	ATP2B4_ENST00000367219.3_Silent_p.I320I|ATP2B4_ENST00000367218.3_Silent_p.I332I|ATP2B4_ENST00000391954.2_Silent_p.I332I|ATP2B4_ENST00000341360.2_Silent_p.I332I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	332					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.I332I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGGGAATCGACAATGAGG	0.532																																					p.I332I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	1						.						109.0	100.0	103.0					1																	203672838		2203	4300	6503	201939461	SO:0001819	synonymous_variant	493	exon8			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.996C>T	1.37:g.203672838C>T			201939461	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	CCDS1440.1																																																																																				0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
ATP2B4	493	broad.mit.edu	37	1	203676208	203676208	+	Missense_Mutation	SNP	C	C	T	rs376933890		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203676208C>T	ENST00000357681.5	+	9	2294	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ATP2B4_ENST00000367219.3_Missense_Mutation_p.R379C|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R391C|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R391C|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R391C	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	391					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.R391C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGATAAATCGCAGACCATG	0.468																																					p.R391C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	1						.	C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	155.0	124.0	135.0		1171,1171	0.6	0.0	1		135	0,8600		0,0,4300	no	missense,missense	ATP2B4	NM_001001396.2,NM_001684.4	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	391/1171,391/1206	203676208	2,13004	2203	4300	6503	201942831	SO:0001583	missense	493	exon9			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1171C>T	1.37:g.203676208C>T	ENSP00000350310:p.Arg391Cys		201942831	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914446	0.33815	4.54E-4	0.0	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	6.17	0.562	0.17290	ATPase, P-type, ATPase-associated domain (1);	0.850395	0.10134	N	0.711704	D	0.92277	0.7550	M	0.62088	1.915	0.20403	N	0.99991	D;D;D	0.63046	0.992;0.961;0.99	P;B;P	0.53549	0.729;0.319;0.536	D	0.86530	0.1821	10	0.66056	D	0.02	-0.1077	21.9586	0.99964	0.0:0.3231:0.6769:0.0	.	391;391;391	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	C	391;391;379;391;391	ENSP00000350310:R391C;ENSP00000356187:R391C;ENSP00000356188:R379C;ENSP00000375816:R391C;ENSP00000340930:R391C	ENSP00000340930:R391C	R	+	1	0	ATP2B4	201942831	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-0.477000	0.06583	0.121000	0.18284	-0.176000	0.13171	CGC		0.468	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396	
ATP2B4	493	broad.mit.edu	37	1	203702501	203702501	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203702501C>T	ENST00000341360.2	+	20	3857	c.3460C>T	c.(3460-3462)Cct>Tct	p.P1154S	ATP2B4_ENST00000367219.3_Missense_Mutation_p.P1142S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P1154S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.P1118S|ATP2B4_ENST00000357681.5_Intron			P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	0					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.P1154S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACTTCTGTTCCTGCTGTTTC	0.448																																					p.P1154S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3460T	1						.						190.0	158.0	169.0					1																	203702501		2203	4300	6503	201969124	SO:0001583	missense	493	exon21			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000341360.2:c.3460C>T	1.37:g.203702501C>T	ENSP00000340930:p.Pro1154Ser		201969124	NM_001001396	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Intron	SNP	ENST00000341360.2	37	CCDS30977.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303694	0.01353	.	.	ENSG00000058668	ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D	0.92397	-3.01;-3.0;-3.03;-3.01	3.67	-0.589	0.11683	.	.	.	.	.	T	0.77280	0.4107	N	0.04508	-0.205	0.21553	N	0.999642	B	0.02656	0.0	B	0.04013	0.001	T	0.62358	-0.6871	9	0.02654	T	1	.	10.3567	0.43969	0.0:0.4487:0.4194:0.1319	.	1154	B1APW5	.	S	1154;1142;1118;1154	ENSP00000356187:P1154S;ENSP00000356188:P1142S;ENSP00000375816:P1118S;ENSP00000340930:P1154S	ENSP00000340930:P1154S	P	+	1	0	ATP2B4	201969124	1.000000	0.71417	0.839000	0.33178	0.460000	0.32559	3.421000	0.52742	-0.091000	0.12440	-1.291000	0.01355	CCT		0.448	ATP2B4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087463.1	NM_001001396	
LAX1	54900	broad.mit.edu	37	1	203743523	203743523	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203743523G>A	ENST00000442561.2	+	5	1301	c.911G>A	c.(910-912)gGa>gAa	p.G304E	LAX1_ENST00000367217.5_Missense_Mutation_p.G288E|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	304					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.G304E(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATCCCAGTGGAAGCCAGCAG	0.517																																					p.G304E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911A	1						.						80.0	76.0	77.0					1																	203743523		2203	4300	6503	202010146	SO:0001583	missense	54900	exon5			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.911G>A	1.37:g.203743523G>A	ENSP00000406970:p.Gly304Glu		202010146	NM_017773	B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845785	0.32606	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	4.79	3.86	0.44501	.	0.833616	0.10640	N	0.651165	T	0.22781	0.0550	N	0.16656	0.425	0.09310	N	1	P;P	0.35107	0.484;0.484	B;B	0.35655	0.207;0.207	T	0.12785	-1.0534	9	0.17369	T	0.5	-1.2747	9.5358	0.39222	0.0978:0.0:0.9022:0.0	.	288;304	B7Z744;Q8IWV1	.;LAX1_HUMAN	E	304;288	.	ENSP00000356186:G288E	G	+	2	0	LAX1	202010146	0.001000	0.12720	0.002000	0.10522	0.460000	0.32559	0.828000	0.27435	1.341000	0.45600	0.655000	0.94253	GGA		0.517	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773	
ZC3H11A	9877	broad.mit.edu	37	1	203807188	203807188	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:203807188G>T	ENST00000545588.1	+	10	4796	c.969G>T	c.(967-969)aaG>aaT	p.K323N	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K323N|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K323N|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K323N|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K323N	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	323					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K323N(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAACACCAAAGAAAGGTACCT	0.398																																					p.K323N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	1						.						102.0	89.0	94.0					1																	203807188		2203	4300	6503	202073811	SO:0001583	missense	9877	exon13				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.969G>T	1.37:g.203807188G>T	ENSP00000438527:p.Lys323Asn		202073811	NM_014827	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011497	0.75046	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.75	4.84	0.62591	.	0.519008	0.23378	N	0.048830	T	0.58779	0.2146	M	0.65498	2.005	0.37236	D	0.905918	D	0.59357	0.985	P	0.59171	0.853	T	0.61778	-0.6993	10	0.24483	T	0.36	-17.993	11.0117	0.47667	0.0857:0.0:0.9143:0.0	.	323	O75152	ZC11A_HUMAN	N	323;323;269;323;323;323;323	ENSP00000356183:K323N;ENSP00000356181:K323N;ENSP00000333253:K323N;ENSP00000438527:K323N;ENSP00000356179:K323N	ENSP00000333253:K323N	K	+	3	2	ZC3H11A	202073811	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.502000	0.45398	1.580000	0.49851	0.650000	0.86243	AAG		0.398	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
SOX13	9580	broad.mit.edu	37	1	204095205	204095205	+	Silent	SNP	C	C	T	rs200693347		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204095205C>T	ENST00000367204.1	+	14	1921	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	604					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D604D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAGCGAGGACGAGGACTCGG	0.627																																					p.D604D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1812T	1						.						140.0	177.0	164.0					1																	204095205		2184	4270	6454	202361828	SO:0001819	synonymous_variant	9580	exon14				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1812C>T	1.37:g.204095205C>T			202361828	NM_005686	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Silent	SNP	ENST00000367204.1	37	CCDS44299.1																																																																																				0.627	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
ETNK2	55224	broad.mit.edu	37	1	204109170	204109170	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204109170C>T	ENST00000367202.4	-	5	1011	c.861G>A	c.(859-861)gaG>gaA	p.E287E	RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367198.2_Silent_p.E109E|ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367199.2_Silent_p.E218E|ETNK2_ENST00000367201.3_Silent_p.E287E|ETNK2_ENST00000367197.1_5'UTR	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.E287E(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTGCAAACTCATTGAAAT	0.443																																					p.E287E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861A	1						.						170.0	143.0	152.0					1																	204109170		2203	4300	6503	202375793	SO:0001819	synonymous_variant	55224	exon5			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.861G>A	1.37:g.204109170C>T			202375793	NM_018208	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Silent	SNP	ENST00000367202.4	37	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116073	0.20795	.	.	ENSG00000143845	ENST00000422072	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.63498	0.2516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61676	-0.7014	4	.	.	.	-11.0304	11.4456	0.50120	0.0:0.9161:0.0:0.0839	.	.	.	.	N	50	.	.	S	-	2	0	ETNK2	202375793	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.495000	0.35627	2.525000	0.85131	0.650000	0.86243	AGT		0.443	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208	
REN	5972	broad.mit.edu	37	1	204124205	204124205	+	Missense_Mutation	SNP	C	C	T	rs371478505		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204124205C>T	ENST00000272190.8	-	10	1188	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	REN_ENST00000367195.2_Missense_Mutation_p.R384Q|ETNK2_ENST00000367199.2_5'Flank	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	387					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.R387Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTAGAACTTTCGGATGAAGGT	0.607																																					p.R387Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	1						.	C	GLN/ARG	0,4406		0,0,2203	80.0	74.0	76.0		1160	5.0	1.0	1		76	1,8599		0,1,4299	no	missense	REN	NM_000537.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	387/407	204124205	1,13005	2203	4300	6503	202390828	SO:0001583	missense	5972	exon10			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1160G>A	1.37:g.204124205C>T	ENSP00000272190:p.Arg387Gln		202390828	NM_000537	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045818	0.75846	0.0	1.16E-4	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.60797	0.16;0.16	5.03	5.03	0.67393	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.111183	0.64402	D	0.000014	T	0.61565	0.2357	M	0.64170	1.965	0.34330	D	0.687574	D	0.60160	0.987	P	0.45377	0.478	T	0.76247	-0.3029	10	0.72032	D	0.01	.	18.3198	0.90234	0.0:1.0:0.0:0.0	.	387	P00797	RENI_HUMAN	Q	384;306;387	ENSP00000356163:R384Q;ENSP00000272190:R387Q	ENSP00000272190:R387Q	R	-	2	0	REN	202390828	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	3.862000	0.56009	2.487000	0.83934	0.591000	0.81541	CGA		0.607	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
REN	5972	broad.mit.edu	37	1	204125321	204125321	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204125321C>A	ENST00000272190.8	-	8	973	c.945G>T	c.(943-945)aaG>aaT	p.K315N	REN_ENST00000367195.2_Missense_Mutation_p.K312N	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	315					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.K315N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	ACAGCCTCTTCTTGGCTCCCA	0.562																																					p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945T	1						.						223.0	217.0	219.0					1																	204125321		2203	4300	6503	202391944	SO:0001583	missense	5972	exon8			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.945G>T	1.37:g.204125321C>A	ENSP00000272190:p.Lys315Asn		202391944	NM_000537	Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	2.664	-0.279115	0.05642	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58506	0.33;0.33	4.43	2.5	0.30297	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.802668	0.12134	N	0.496501	T	0.45034	0.1322	L	0.41710	1.295	0.26659	N	0.971955	B	0.18166	0.026	B	0.17979	0.02	T	0.31668	-0.9935	10	0.27082	T	0.32	.	7.5537	0.27812	0.0:0.7905:0.0:0.2095	.	315	P00797	RENI_HUMAN	N	312;234;315	ENSP00000356163:K312N;ENSP00000272190:K315N	ENSP00000272190:K315N	K	-	3	2	REN	202391944	0.961000	0.32948	0.997000	0.53966	0.369000	0.29798	0.144000	0.16135	0.404000	0.25506	0.462000	0.41574	AAG		0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
REN	5972	broad.mit.edu	37	1	204131291	204131291	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204131291C>T	ENST00000272190.8	-	2	127	c.99G>A	c.(97-99)cgG>cgA	p.R33R	REN_ENST00000367195.2_Splice_Site_p.R33R	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	33			R -> W (in dbSNP:rs11571098).		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)	p.R33R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGAGGAAGATCCTGGCCCAGG	0.547											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R33R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G99A	1						.						96.0	82.0	87.0					1																	204131291		2203	4300	6503	202397914	SO:0001630	splice_region_variant	5972	exon2			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.99-1G>A	1.37:g.204131291C>T		2142	202397914	NM_000537	Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	CCDS30981.1																																																																																				0.547	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	Silent
PPP1R15B	84919	broad.mit.edu	37	1	204379885	204379885	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204379885C>T	ENST00000367188.4	-	1	1034	c.655G>A	c.(655-657)Gta>Ata	p.V219I	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	219					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.V219I(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			AAATAGGATACCACACTGAAA	0.498																																					p.V219I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G655A	1						.						122.0	118.0	119.0					1																	204379885		2203	4300	6503	202646508	SO:0001583	missense	84919	exon1			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.655G>A	1.37:g.204379885C>T	ENSP00000356156:p.Val219Ile		202646508	NM_032833	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979676	0.53827	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.23754	1.89	5.4	3.54	0.40534	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.207947	0.31392	N	0.007724	T	0.29028	0.0721	M	0.61703	1.905	0.24644	N	0.993559	B	0.24618	0.107	B	0.33690	0.168	T	0.30650	-0.9971	10	0.87932	D	0	-7.4566	8.3387	0.32230	0.0:0.8184:0.0:0.1816	.	219	Q5SWA1	PR15B_HUMAN	I	219;129	ENSP00000356156:V219I	ENSP00000356156:V219I	V	-	1	0	PPP1R15B	202646508	0.895000	0.30542	0.572000	0.28498	0.278000	0.26855	2.560000	0.45896	0.651000	0.30788	0.655000	0.94253	GTA		0.498	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833	
PIK3C2B	5287	broad.mit.edu	37	1	204394013	204394013	+	Silent	SNP	G	G	A	rs577562908		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204394013G>A	ENST00000367187.3	-	34	5428	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F	PIK3C2B_ENST00000424712.2_Silent_p.F1596F|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1624					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.F1624F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCCCAGGGCGAACCAGCCGG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17201	0.0		0.0	False		,,,				2504	0.001				p.F1624F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4872T	1						.						63.0	57.0	59.0					1																	204394013		2203	4300	6503	202660636	SO:0001819	synonymous_variant	5287	exon34			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4872C>T	1.37:g.204394013G>A			202660636	NM_002646	O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																				0.642	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
PIK3C2B	5287	broad.mit.edu	37	1	204401413	204401413	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204401413C>T	ENST00000367187.3	-	28	4626	c.4070G>A	c.(4069-4071)cGa>cAa	p.R1357Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1329Q|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1357					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R1357Q(1)|p.R1357L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGTGTGTGTTCGGGAGGCAAA	0.502																																					p.R1357Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4070A	1						.						124.0	120.0	121.0					1																	204401413		2203	4300	6503	202668036	SO:0001583	missense	5287	exon28			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4070G>A	1.37:g.204401413C>T	ENSP00000356155:p.Arg1357Gln		202668036	NM_002646	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	c	19.80	3.895587	0.72639	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61158	0.13;0.29	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.42686	1.345	0.35678	D	0.81385	P;D	0.71674	0.582;0.998	B;P	0.55999	0.18;0.789	T	0.65425	-0.6171	10	0.31617	T	0.26	.	13.4575	0.61208	0.0:0.9282:0.0:0.0718	.	1329;1357	F5GWN5;O00750	.;P3C2B_HUMAN	Q	1357;1329	ENSP00000356155:R1357Q;ENSP00000400561:R1329Q	ENSP00000356155:R1357Q	R	-	2	0	PIK3C2B	202668036	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.790000	0.47821	2.891000	0.99171	0.651000	0.88453	CGA		0.502	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
PIK3C2B	5287	broad.mit.edu	37	1	204433727	204433727	+	Missense_Mutation	SNP	C	C	T	rs2271416	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204433727C>T	ENST00000367187.3	-	5	1596	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R347Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	347					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R347Q(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGAGCCAGATCGAAGGCTGTA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		21001	0.002		0.0	False		,,,				2504	0.0				p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	1						.	C	GLN/ARG	0,4406		0,0,2203	93.0	93.0	93.0		1040	5.2	0.4	1	dbSNP_100	93	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PIK3C2B	NM_002646.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	347/1635	204433727	1,13005	2203	4300	6503	202700350	SO:0001583	missense	5287	exon5			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1040G>A	1.37:g.204433727C>T	ENSP00000356155:p.Arg347Gln		202700350	NM_002646	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	26.1	4.702449	0.88924	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.69926	-0.27;-0.44	5.24	5.24	0.73138	.	0.222120	0.29631	N	0.011613	T	0.78059	0.4224	L	0.50333	1.59	0.37830	D	0.928707	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.968	T	0.81178	-0.1051	10	0.72032	D	0.01	.	16.7749	0.85548	0.0:1.0:0.0:0.0	rs2271416;rs2271416	347;347	F5GWN5;O00750	.;P3C2B_HUMAN	Q	347;347;125;125	ENSP00000356155:R347Q;ENSP00000400561:R347Q	ENSP00000356152:R125Q	R	-	2	0	PIK3C2B	202700350	0.992000	0.36948	0.412000	0.26496	0.893000	0.52053	5.131000	0.64751	2.723000	0.93209	0.655000	0.94253	CGA		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
MDM4	4194	broad.mit.edu	37	1	204518437	204518437	+	Missense_Mutation	SNP	C	C	T	rs201947927		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204518437C>T	ENST00000367182.3	+	11	1262	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.S317L|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Missense_Mutation_p.S41L	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	367					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.S367L(2)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGAACCATTTCGGCTCCTGTC	0.408			A		"""GBM, bladder, retinoblastoma"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		22943	0.0		0.0	False		,,,				2504	0.0				p.S367L			Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	MDM4,upper_aerodigestive_tract,head_neck,Substitution - Missense,0	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1100T	1						.						139.0	137.0	138.0					1																	204518437		2203	4300	6503	202785060	SO:0001583	missense	4194	exon11			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.1100C>T	1.37:g.204518437C>T	ENSP00000356150:p.Ser367Leu		202785060	NM_002393	Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	CCDS1447.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	34	5.345498	0.95807	.	.	ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367183;ENST00000444261	T;T;T;T	0.50813	2.86;2.86;0.73;2.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.932;0.951	T	0.61922	-0.6963	10	0.62326	D	0.03	-11.2631	20.4745	0.99168	0.0:1.0:0.0:0.0	.	367;317	O15151;Q2M2Y2	MDM4_HUMAN;.	L	367;317;41;145	ENSP00000356150:S367L;ENSP00000396840:S317L;ENSP00000356151:S41L;ENSP00000395254:S145L	ENSP00000356150:S367L	S	+	2	0	MDM4	202785060	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	TCG		0.408	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393	
NFASC	23114	broad.mit.edu	37	1	204913519	204913519	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204913519G>A	ENST00000401399.1	+	2	275	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	NFASC_ENST00000367171.4_Missense_Mutation_p.E26K|NFASC_ENST00000404907.1_Missense_Mutation_p.E26K|NFASC_ENST00000338515.6_Missense_Mutation_p.E26K|NFASC_ENST00000404076.1_Missense_Mutation_p.E26K|NFASC_ENST00000338586.6_Missense_Mutation_p.E26K|NFASC_ENST00000360049.4_Missense_Mutation_p.E26K|NFASC_ENST00000367172.4_Missense_Mutation_p.E26K|NFASC_ENST00000513543.1_Missense_Mutation_p.E26K|NFASC_ENST00000403080.1_Missense_Mutation_p.E26K|NFASC_ENST00000339876.6_Missense_Mutation_p.E26K|NFASC_ENST00000539706.1_Missense_Mutation_p.E26K|NFASC_ENST00000367170.4_Missense_Mutation_p.E26K|NFASC_ENST00000367169.4_Missense_Mutation_p.E26K			O94856	NFASC_HUMAN	neurofascin	26					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.E26K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGGAGCCATCGAAATTCCTAT	0.597																																					p.E26K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	1						.						52.0	48.0	49.0					1																	204913519		2203	4300	6503	203180142	SO:0001583	missense	23114	exon1			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.76G>A	1.37:g.204913519G>A	ENSP00000385637:p.Glu26Lys		203180142	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742638	0.69418	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T;T	0.85171	-0.14;-0.18;-0.12;-0.12;-0.09;-0.12;-0.04;-0.02;-0.09;-0.56;-0.57;-0.15;-0.09;-1.95;-0.04;-0.02;-0.11	5.33	5.33	0.75918	.	0.000000	0.42821	D	0.000656	T	0.77232	0.4100	N	0.08118	0	0.46609	D	0.999128	B;B;P;D;B;B	0.56746	0.029;0.0;0.945;0.977;0.001;0.021	B;B;P;P;B;B	0.47528	0.029;0.0;0.449;0.549;0.003;0.01	T	0.81417	-0.0942	10	0.54805	T	0.06	.	15.8689	0.79091	0.0:0.0:1.0:0.0	.	26;26;128;26;26;26	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	K	26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;2	ENSP00000356140:E26K;ENSP00000356139:E26K;ENSP00000356138:E26K;ENSP00000342128:E26K;ENSP00000344786:E26K;ENSP00000343509:E26K;ENSP00000438614:E26K;ENSP00000353154:E26K;ENSP00000356137:E26K;ENSP00000412161:E26K;ENSP00000384875:E26K;ENSP00000385676:E26K;ENSP00000385637:E26K;ENSP00000427586:E26K;ENSP00000384061:E26K;ENSP00000425908:E26K;ENSP00000415031:E2K	ENSP00000295776:E26K	E	+	1	0	NFASC	203180142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.712000	0.68407	2.779000	0.95612	0.561000	0.74099	GAA		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
NFASC	23114	broad.mit.edu	37	1	204923410	204923410	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:204923410C>T	ENST00000401399.1	+	5	509	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	NFASC_ENST00000367171.4_Missense_Mutation_p.R104C|NFASC_ENST00000404907.1_Missense_Mutation_p.R98C|NFASC_ENST00000338515.6_Missense_Mutation_p.R104C|NFASC_ENST00000404076.1_Missense_Mutation_p.R98C|NFASC_ENST00000338586.6_Missense_Mutation_p.R104C|NFASC_ENST00000360049.4_Missense_Mutation_p.R98C|NFASC_ENST00000367172.4_Missense_Mutation_p.R104C|NFASC_ENST00000513543.1_Missense_Mutation_p.R98C|NFASC_ENST00000403080.1_Missense_Mutation_p.R104C|NFASC_ENST00000339876.6_Missense_Mutation_p.R104C|NFASC_ENST00000539706.1_Missense_Mutation_p.R98C|NFASC_ENST00000367170.4_Missense_Mutation_p.R104C|NFASC_ENST00000367169.4_Missense_Mutation_p.R104C			O94856	NFASC_HUMAN	neurofascin	104	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.R98C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATTGACTTCCGCAGTGGCGG	0.592																																					p.R98C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C292T	1						.						52.0	54.0	53.0					1																	204923410		2203	4300	6503	203190033	SO:0001583	missense	23114	exon3			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.310C>T	1.37:g.204923410C>T	ENSP00000385637:p.Arg104Cys		203190033	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827836	0.90955	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T;T	0.95885	-0.21;-0.27;-0.19;-0.2;-0.2;-0.2;-0.12;-0.1;-0.18;-0.73;-0.66;-0.23;-0.2;-3.84;-0.12;-0.1;-0.11	5.37	5.37	0.77165	.	0.115488	0.39210	N	0.001437	D	0.96109	0.8732	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.71674	0.993;0.988;0.98;0.998;0.992;0.997	P;B;P;P;P;P	0.55965	0.509;0.435;0.663;0.788;0.674;0.745	D	0.95298	0.8401	10	0.37606	T	0.19	.	18.6966	0.91603	0.0:1.0:0.0:0.0	.	98;98;200;104;98;104	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	C	104;104;104;104;104;104;98;98;98;104;104;104;98;104;104;98;98;74	ENSP00000356140:R104C;ENSP00000356139:R104C;ENSP00000356138:R104C;ENSP00000342128:R104C;ENSP00000344786:R104C;ENSP00000343509:R104C;ENSP00000438614:R98C;ENSP00000353154:R98C;ENSP00000356137:R104C;ENSP00000412161:R104C;ENSP00000384875:R104C;ENSP00000385676:R98C;ENSP00000385637:R104C;ENSP00000427586:R104C;ENSP00000384061:R98C;ENSP00000425908:R98C;ENSP00000415031:R74C	ENSP00000295776:R98C	R	+	1	0	NFASC	203190033	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.634000	0.54302	2.516000	0.84829	0.655000	0.94253	CGC		0.592	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
CNTN2	6900	broad.mit.edu	37	1	205028276	205028276	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:205028276C>T	ENST00000331830.4	+	6	836	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	184	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.F184F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCGTCACTTCGTGTCCCAGA	0.582																																					p.F184F	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	1						.						75.0	64.0	68.0					1																	205028276		2203	4300	6503	203294899	SO:0001819	synonymous_variant	6900	exon6			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.552C>T	1.37:g.205028276C>T			203294899	NM_005076	P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	CCDS1449.1																																																																																				0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
CNTN2	6900	broad.mit.edu	37	1	205031103	205031103	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:205031103C>T	ENST00000331830.4	+	9	1368	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	362	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.R362W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGCTGGCTGCGGAACGGGGA	0.642											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R362W	Melanoma(183;2548 2817 37099 41192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1084T	1						.						18.0	21.0	20.0					1																	205031103		2200	4294	6494	203297726	SO:0001583	missense	6900	exon9			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1084C>T	1.37:g.205031103C>T	ENSP00000330633:p.Arg362Trp	2149	203297726	NM_005076	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479028	0.84747	.	.	ENSG00000184144	ENST00000331830	D	0.83506	-1.73	5.16	3.17	0.36434	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000205	D	0.90487	0.7020	M	0.83312	2.635	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.974;0.96;0.974	D	0.90652	0.4583	10	0.72032	D	0.01	.	13.2951	0.60292	0.2975:0.7025:0.0:0.0	.	362;362;253	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	W	362	ENSP00000330633:R362W	ENSP00000330633:R362W	R	+	1	2	CNTN2	203297726	0.972000	0.33761	0.999000	0.59377	0.993000	0.82548	2.272000	0.43373	0.478000	0.27488	0.557000	0.71058	CGG		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
DSTYK	25778	broad.mit.edu	37	1	205129252	205129252	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:205129252G>T	ENST00000367162.3	-	8	2125	c.2095C>A	c.(2095-2097)Cac>Aac	p.H699N	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.H699N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.H160N(1)|p.H699N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTCATATAGTGAAATTCCAAA	0.463																																					p.H699N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2095A	1						.						146.0	148.0	148.0					1																	205129252		2203	4300	6503	203395875	SO:0001583	missense	25778	exon8			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2095C>A	1.37:g.205129252G>T	ENSP00000356130:p.His699Asn		203395875	NM_015375	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131311	0.94473	.	.	ENSG00000133059	ENST00000367161;ENST00000367162	T;T	0.64260	-0.09;-0.09	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	N	0.13168	0.305	0.80722	D	1	D;D;P	0.58620	0.983;0.978;0.529	P;D;B	0.63488	0.592;0.915;0.407	T	0.71041	-0.4707	10	0.62326	D	0.03	-19.8715	19.1782	0.93612	0.0:0.0:1.0:0.0	.	160;699;699	Q6XUX3-4;Q6XUX3-2;Q6XUX3	.;.;DUSTY_HUMAN	N	699	ENSP00000356129:H699N;ENSP00000356130:H699N	ENSP00000356129:H699N	H	-	1	0	DSTYK	203395875	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.437000	0.97535	2.641000	0.89580	0.563000	0.77884	CAC		0.463	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	
ELK4	2005	broad.mit.edu	37	1	205589034	205589034	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:205589034T>G	ENST00000357992.4	-	3	1420				ELK4_ENST00000289703.4_Missense_Mutation_p.Q380H|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)						cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.Q380H(1)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATTCTGGATTTGCTTAAAAG	0.383			T	SLC45A3	prostate																																p.Q380H			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1140C	1						.						62.0	64.0	64.0					1																	205589034		2203	4300	6503	203855657	SO:0001627	intron_variant	2005	exon3			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1080+59A>C	1.37:g.205589034T>G			203855657	NM_021795	P28323|Q6GSJ2	Intron	SNP	ENST00000357992.4	37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619141	0.28801	.	.	ENSG00000158711	ENST00000289703	T	0.32753	1.44	5.66	-9.3	0.00649	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36187	-0.9758	8	0.87932	D	0	.	1.3284	0.02130	0.2021:0.3306:0.1976:0.2697	.	380	P28324-2	.	H	380	ENSP00000289703:Q380H	ENSP00000289703:Q380H	Q	-	3	2	ELK4	203855657	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.022000	0.12480	-1.317000	0.02292	-0.313000	0.08912	CAA		0.383	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795	
NUCKS1	64710	broad.mit.edu	37	1	205698728	205698728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:205698728G>T	ENST00000367142.4	-	2	341	c.39C>A	c.(37-39)taC>taA	p.Y13*	SNORA72_ENST00000365074.1_RNA	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	13						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y13*(1)		endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAACTGTGAGTAATCAACAA	0.333																																					p.Y13X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C39A	1						.						146.0	154.0	151.0					1																	205698728		2203	4300	6503	203965351	SO:0001587	stop_gained	64710	exon2				CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.39C>A	1.37:g.205698728G>T	ENSP00000356110:p.Tyr13*		203965351	NM_022731	Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Nonsense_Mutation	SNP	ENST00000367142.4	37	CCDS30987.1	.	.	.	.	.	.	.	.	.	.	G	37	6.138350	0.97315	.	.	ENSG00000069275	ENST00000367142;ENST00000264531	.	.	.	5.36	1.46	0.22682	.	0.055129	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.383	9.4799	0.38895	0.5717:0.0:0.4283:0.0	.	.	.	.	X	13;25	.	ENSP00000264531:Y25X	Y	-	3	2	NUCKS1	203965351	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.043000	0.30316	-0.007000	0.14345	-0.242000	0.12053	TAC		0.333	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731	
IKBKE	9641	broad.mit.edu	37	1	206648290	206648290	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:206648290C>T	ENST00000367120.3	+	5	684	c.311C>T	c.(310-312)gCc>gTc	p.A104V	IKBKE_ENST00000537984.1_Missense_Mutation_p.A19V|IKBKE_ENST00000463979.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.A104V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTGAGAATGCCTTTGGGCTG	0.637																																					p.A104V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	1						.						187.0	138.0	155.0					1																	206648290		2203	4300	6503	204714913	SO:0001583	missense	9641	exon5			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.311C>T	1.37:g.206648290C>T	ENSP00000356087:p.Ala104Val		204714913	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900746	0.92035	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.66460	-0.21;-0.21	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061016	0.64402	D	0.000004	T	0.76572	0.4006	M	0.65975	2.015	0.54753	D	0.999985	P;P	0.51653	0.919;0.947	P;P	0.54174	0.686;0.744	T	0.78919	-0.2014	10	0.59425	D	0.04	0.8967	18.3958	0.90497	0.0:1.0:0.0:0.0	.	19;104	Q3B754;Q14164	.;IKKE_HUMAN	V	104;19	ENSP00000356087:A104V;ENSP00000444529:A19V	ENSP00000356087:A104V	A	+	2	0	IKBKE	204714913	1.000000	0.71417	0.647000	0.29507	0.637000	0.38172	7.739000	0.84976	2.440000	0.82611	0.561000	0.74099	GCC		0.637	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
IKBKE	9641	broad.mit.edu	37	1	206651575	206651575	+	Silent	SNP	C	C	T	rs144754298		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:206651575C>T	ENST00000367120.3	+	9	1258	c.885C>T	c.(883-885)ttC>ttT	p.F295F	IKBKE_ENST00000537984.1_Silent_p.F210F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.F295F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCTGGGGCTTCGACCAGTTCT	0.607																																					p.F295F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885T	1						.		,,	1,4405	2.1+/-5.4	0,1,2202	129.0	106.0	114.0		630,885,885	-0.1	1.0	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IKBKE	NM_001193321.1,NM_001193322.1,NM_014002.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	210/632,295/658,295/717	206651575	1,13005	2203	4300	6503	204718198	SO:0001819	synonymous_variant	9641	exon9			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.885C>T	1.37:g.206651575C>T			204718198	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	CCDS30996.1																																																																																				0.607	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
EIF2D	1939	broad.mit.edu	37	1	206776509	206776509	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:206776509C>T	ENST00000271764.2	-	6	788	c.580G>A	c.(580-582)Gat>Aat	p.D194N	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	194					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.D194N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCTGCTGAATCCAGGGCCAGT	0.537																																					p.D194N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	1						.						126.0	118.0	121.0					1																	206776509		2203	4300	6503	204843132	SO:0001583	missense	1939	exon6			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.580G>A	1.37:g.206776509C>T	ENSP00000271764:p.Asp194Asn		204843132	NM_006893	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085125	0.20390	.	.	ENSG00000143486	ENST00000271764;ENST00000367111;ENST00000437518	T;T	0.42513	0.97;0.97	5.99	4.15	0.48705	.	0.419944	0.30076	N	0.010463	T	0.23094	0.0558	N	0.14661	0.345	0.20873	N	0.999831	B	0.02656	0.0	B	0.04013	0.001	T	0.18053	-1.0349	10	0.16420	T	0.52	-27.3009	9.4	0.38426	0.0:0.8376:0.0:0.1624	.	194	P41214	EIF2D_HUMAN	N	194;166;166	ENSP00000271764:D194N;ENSP00000394685:D166N	ENSP00000271764:D194N	D	-	1	0	EIF2D	204843132	0.031000	0.19500	0.176000	0.23000	0.120000	0.20174	0.710000	0.25748	0.883000	0.36040	-0.137000	0.14449	GAT		0.537	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893	
IL10	3586	broad.mit.edu	37	1	206944288	206944288	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:206944288C>A	ENST00000423557.1	-	3	400	c.342G>T	c.(340-342)gaG>gaT	p.E114D	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	114					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)	p.E114D(1)		endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTTCAGGTTCTCCCCCAGGG	0.537																																					p.E114D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G342T	1						.						141.0	134.0	137.0					1																	206944288		2203	4300	6503	205010911	SO:0001583	missense	3586	exon3			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.342G>T	1.37:g.206944288C>A	ENSP00000412237:p.Glu114Asp		205010911	NM_000572		Missense_Mutation	SNP	ENST00000423557.1	37	CCDS1467.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324172	0.24080	.	.	ENSG00000136634	ENST00000423557	T	0.70631	-0.5	5.99	-12.0	0.00017	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.380589	0.32386	N	0.006179	T	0.75309	0.3832	M	0.81341	2.54	0.20975	N	0.999811	D	0.57257	0.979	D	0.70935	0.971	T	0.74328	-0.3701	10	0.45353	T	0.12	-15.3671	11.2206	0.48853	0.0:0.538:0.2578:0.2042	.	114	P22301	IL10_HUMAN	D	114	ENSP00000412237:E114D	ENSP00000412237:E114D	E	-	3	2	IL10	205010911	0.624000	0.27102	0.464000	0.27143	0.022000	0.10575	-0.714000	0.05002	-1.620000	0.01564	-1.202000	0.01658	GAG		0.537	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
FAIM3	9214	broad.mit.edu	37	1	207085260	207085260	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207085260A>C	ENST00000367091.3	-	4	668	c.525T>G	c.(523-525)gtT>gtG	p.V175V	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Silent_p.V175V|FAIM3_ENST00000442471.2_Silent_p.V63V	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	175					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.V175V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGGAGTGGTGAACTGGAGGGA	0.537											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V175V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T525G	1						.						148.0	150.0	149.0					1																	207085260		2203	4300	6503	205151883	SO:0001819	synonymous_variant	9214	exon4			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.525T>G	1.37:g.207085260A>C		2164	205151883	NM_005449	A8K7J2|B7Z6Z0|D9MWM3	Silent	SNP	ENST00000367091.3	37	CCDS1473.1																																																																																				0.537	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449	
FAIM3	9214	broad.mit.edu	37	1	207087225	207087225	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207087225C>A	ENST00000367091.3	-	2	395	c.252G>T	c.(250-252)aaG>aaT	p.K84N	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.K84N|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	84	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.K84N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGAACAGATTCTTGCGTGGGT	0.522																																					p.K84N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G252T	1						.						140.0	129.0	133.0					1																	207087225		2203	4300	6503	205153848	SO:0001583	missense	9214	exon2			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.252G>T	1.37:g.207087225C>A	ENSP00000356058:p.Lys84Asn		205153848	NM_005449	A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760426	0.15914	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67	5.28	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.863268	0.10018	N	0.726323	T	0.03608	0.0103	N	0.15975	0.35	0.09310	N	1	B	0.25272	0.122	B	0.24155	0.051	T	0.42481	-0.9449	10	0.10377	T	0.69	-5.1729	12.0666	0.53592	0.0:0.8271:0.1729:0.0	.	84	O60667	FAIM3_HUMAN	N	84;84;84;84;115	ENSP00000356058:K84N;ENSP00000403356:K84N;ENSP00000432936:K84N;ENSP00000437331:K84N;ENSP00000436316:K115N	ENSP00000356058:K84N	K	-	3	2	FAIM3	205153848	0.000000	0.05858	0.004000	0.12327	0.566000	0.35808	0.186000	0.16978	1.217000	0.43442	0.655000	0.94253	AAG		0.522	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449	
PIGR	5284	broad.mit.edu	37	1	207110752	207110752	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207110752C>T	ENST00000356495.4	-	4	916	c.733G>A	c.(733-735)Gtt>Att	p.V245I		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	245					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.V245I(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCATAAACCAGCTCGGGC	0.552																																					p.V245I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733A	1						.						58.0	57.0	57.0					1																	207110752		2203	4300	6503	205177375	SO:0001583	missense	5284	exon4				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.733G>A	1.37:g.207110752C>T	ENSP00000348888:p.Val245Ile		205177375	NM_002644	Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	9.115	1.007569	0.19199	.	.	ENSG00000162896	ENST00000356495	T	0.04917	3.53	5.79	-7.71	0.01254	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.925858	0.09145	N	0.842387	T	0.04634	0.0126	L	0.52905	1.665	0.09310	N	1	B	0.34103	0.437	B	0.29176	0.099	T	0.27365	-1.0076	10	0.17369	T	0.5	-20.169	7.814	0.29247	0.0845:0.1565:0.5762:0.1828	.	245	P01833	PIGR_HUMAN	I	245	ENSP00000348888:V245I	ENSP00000348888:V245I	V	-	1	0	PIGR	205177375	0.047000	0.20315	0.059000	0.19551	0.331000	0.28603	-0.542000	0.06091	-1.283000	0.02393	0.655000	0.94253	GTT		0.552	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
FCAMR	83953	broad.mit.edu	37	1	207135887	207135887	+	Nonsense_Mutation	SNP	G	G	T	rs375632066		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207135887G>T	ENST00000324852.4	-	5	797	c.323C>A	c.(322-324)tCa>tAa	p.S108*	FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000450945.2_Nonsense_Mutation_p.S108*|FCAMR_ENST00000400962.3_Nonsense_Mutation_p.S108*	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	63	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S84*(1)|p.S108*(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GCCCTTCAATGAATTTGGAGC	0.527																																					p.S108X	Ovarian(199;1883 2142 16966 44409 45154)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C323A	1						.						14.0	15.0	15.0					1																	207135887		1568	3581	5149	205202510	SO:0001587	stop_gained	83953	exon5			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.323C>A	1.37:g.207135887G>T	ENSP00000316491:p.Ser108*		205202510	NM_032029	Q32M82|Q8WWV5|Q96SA2	Nonsense_Mutation	SNP	ENST00000324852.4	37	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257480	0.95368	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	.	.	.	5.32	3.44	0.39384	.	0.458067	0.20202	N	0.097076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-3.7154	7.33	0.26577	0.0904:0.1698:0.7397:0.0	.	.	.	.	X	108;108;108;84	.	ENSP00000316491:S108X	S	-	2	0	FCAMR	205202510	0.284000	0.24287	0.001000	0.08648	0.359000	0.29487	4.788000	0.62439	0.626000	0.30322	-0.175000	0.13238	TCA		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
C1orf116	79098	broad.mit.edu	37	1	207196615	207196615	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207196615G>A	ENST00000359470.5	-	4	743	c.494C>T	c.(493-495)gCg>gTg	p.A165V	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	165						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.A165V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGGCTCTGGCGCAAGCCTCCC	0.597																																					p.A165V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494T	1						.						52.0	55.0	54.0					1																	207196615		2203	4300	6503	205263238	SO:0001583	missense	79098	exon4				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.494C>T	1.37:g.207196615G>A	ENSP00000352447:p.Ala165Val		205263238	NM_023938	C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	0.735	-0.778549	0.02929	.	.	ENSG00000182795	ENST00000359470	T	0.07216	3.21	4.63	-9.26	0.00662	.	2.900000	0.00926	N	0.002643	T	0.02727	0.0082	N	0.08118	0	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.36841	-0.9731	10	0.02654	T	1	5.5891	3.5676	0.07905	0.3928:0.1123:0.3851:0.1098	.	165	Q9BW04	SARG_HUMAN	V	165	ENSP00000352447:A165V	ENSP00000352447:A165V	A	-	2	0	C1orf116	205263238	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.150000	0.10189	-2.334000	0.00630	-2.759000	0.00122	GCG		0.597	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115	
PFKFB2	5208	broad.mit.edu	37	1	207228092	207228092	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207228092C>T	ENST00000367080.3	+	2	154	c.30C>T	c.(28-30)aaC>aaT	p.N10N	YOD1_ENST00000391927.1_5'Flank|YOD1_ENST00000367084.1_5'Flank|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000367079.2_Silent_p.N10N|PFKFB2_ENST00000545806.1_5'UTR	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	10	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)	p.N10N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CAGAACAGAACAACAACAGCT	0.433																																					p.N10N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30T	1						.						65.0	60.0	62.0					1																	207228092		2203	4300	6503	205294715	SO:0001819	synonymous_variant	5208	exon2				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.30C>T	1.37:g.207228092C>T			205294715	NM_001018053	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	ENST00000367080.3	37	CCDS31004.1																																																																																				0.433	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087838.1		
C4BPA	722	broad.mit.edu	37	1	207297310	207297310	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207297310G>T	ENST00000367070.3	+	5	666	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	158	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.D158Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAAGTCCAAGATAGAGGAGT	0.348																																					p.D158Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472T	1						.						72.0	72.0	72.0					1																	207297310		2203	4300	6503	205363933	SO:0001583	missense	722	exon5			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.472G>T	1.37:g.207297310G>T	ENSP00000356037:p.Asp158Tyr		205363933	NM_000715	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122706	0.56613	.	.	ENSG00000123838	ENST00000367070	T	0.25414	1.8	5.9	4.04	0.47022	Complement control module (2);Sushi/SCR/CCP (3);	0.507164	0.19563	N	0.111296	T	0.52435	0.1734	M	0.87456	2.885	0.09310	N	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.47649	-0.9101	10	0.72032	D	0.01	.	8.7244	0.34460	0.1706:0.0:0.8294:0.0	.	158	P04003	C4BPA_HUMAN	Y	158	ENSP00000356037:D158Y	ENSP00000356037:D158Y	D	+	1	0	C4BPA	205363933	0.356000	0.24930	0.020000	0.16555	0.149000	0.21700	2.156000	0.42310	0.842000	0.35045	0.650000	0.86243	GAT		0.348	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
CR2	1380	broad.mit.edu	37	1	207640078	207640078	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207640078C>A	ENST00000367058.3	+	2	455	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	CR2_ENST00000367059.3_Missense_Mutation_p.S89Y|CR2_ENST00000367057.3_Missense_Mutation_p.S89Y|CR2_ENST00000458541.2_Missense_Mutation_p.S89Y	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	89	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.S89Y(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AATAAATATTCTTCTTGCCCT	0.398																																					p.S89Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C266A	1						.						87.0	87.0	87.0					1																	207640078		2203	4300	6503	205706701	SO:0001583	missense	1380	exon2			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.266C>A	1.37:g.207640078C>A	ENSP00000356025:p.Ser89Tyr		205706701	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567218	0.45694	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.0	3.11	0.35812	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.81235	0.4780	M	0.68593	2.085	0.09310	N	1	D;D;D	0.76494	0.979;0.996;0.999	P;D;D	0.69824	0.827;0.925;0.966	T	0.67550	-0.5642	9	0.29301	T	0.29	.	7.9038	0.29750	0.0:0.8114:0.0:0.1886	.	89;89;89	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Y	89	ENSP00000356025:S89Y;ENSP00000356024:S89Y;ENSP00000356026:S89Y;ENSP00000404222:S89Y	ENSP00000356024:S89Y	S	+	2	0	CR2	205706701	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.889000	0.39718	0.685000	0.31468	0.655000	0.94253	TCT		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1	1378	broad.mit.edu	37	1	207741233	207741233	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207741233C>A	ENST00000367049.4	+	25	4017	c.4017C>A	c.(4015-4017)gtC>gtA	p.V1339V	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Silent_p.V889V|CR1_ENST00000400960.2_Silent_p.V889V|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.V889V|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	889	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.V894V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTCTGGAAGTCTTTCCCTTTG	0.463																																					p.V1339V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4017A	1						.						139.0	157.0	151.0					1																	207741233		1810	4097	5907	205807856	SO:0001819	synonymous_variant	1378	exon25			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4017C>A	1.37:g.207741233C>A			205807856	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1																																																																																				0.463	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
CR1	1378	broad.mit.edu	37	1	207741297	207741297	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207741297G>A	ENST00000367049.4	+	25	4081	c.4081G>A	c.(4081-4083)Gac>Aac	p.D1361N	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.D911N|CR1_ENST00000400960.2_Missense_Mutation_p.D911N|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.D911N|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	911	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.D916N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACGAGCTTCGACCTCATTGG	0.542																																					p.D1361N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4081A	1						.						91.0	111.0	105.0					1																	207741297		1821	4085	5906	205807920	SO:0001583	missense	1378	exon25			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4081G>A	1.37:g.207741297G>A	ENSP00000356016:p.Asp1361Asn		205807920	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	g	1.023	-0.684229	0.03353	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	2.73	-4.85	0.03142	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.03871	0.0109	N	0.01086	-1.025	0.09310	N	1	B;B;B;P	0.35208	0.039;0.056;0.01;0.49	B;B;B;B	0.22152	0.038;0.011;0.004;0.038	T	0.38993	-0.9635	9	0.17832	T	0.49	.	5.0844	0.14675	0.6589:0.1668:0.1743:0.0	.	911;461;911;1361	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	N	911;911;911;1361	ENSP00000356018:D911N;ENSP00000356020:D911N;ENSP00000383744:D911N;ENSP00000356016:D1361N	ENSP00000356016:D1361N	D	+	1	0	CR1	205807920	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.144000	0.16135	-0.956000	0.03631	-1.536000	0.00914	GAC		0.542	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
CR1	1378	broad.mit.edu	37	1	207753667	207753667	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207753667C>A	ENST00000367049.4	+	30	5019	c.5019C>A	c.(5017-5019)ttC>ttA	p.F1673L	RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.F1223L|CR1_ENST00000400960.2_Missense_Mutation_p.F1223L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.F1223L|CR1_ENST00000367052.1_Missense_Mutation_p.F1223L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1223	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.F1228L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGAAGTGTTCTACAGCTGTG	0.582																																					p.F1673L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5019A	1						.						125.0	128.0	127.0					1																	207753667		1985	4176	6161	205820290	SO:0001583	missense	1378	exon30			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5019C>A	1.37:g.207753667C>A	ENSP00000356016:p.Phe1673Leu		205820290	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038936	0.07497	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.38	2.45	0.29901	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.42810	0.1219	N	0.25825	0.765	0.23056	N	0.998361	B;B;B	0.17667	0.023;0.002;0.011	B;B;B	0.21546	0.035;0.003;0.017	T	0.28618	-1.0038	9	0.11485	T	0.65	.	5.7418	0.18098	0.1911:0.705:0.0:0.1039	.	1223;1223;1673	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	L	1223;1223;1223;1223;773;1673	ENSP00000356019:F1223L;ENSP00000356018:F1223L;ENSP00000356020:F1223L;ENSP00000383744:F1223L;ENSP00000436139:F773L;ENSP00000356016:F1673L	ENSP00000356016:F1673L	F	+	3	2	CR1	205820290	0.268000	0.24133	0.794000	0.32065	0.638000	0.38207	0.244000	0.18124	0.386000	0.24997	0.655000	0.94253	TTC		0.582	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
CR1	1378	broad.mit.edu	37	1	207791444	207791444	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207791444C>T	ENST00000367049.4	+	42	6918	c.6918C>T	c.(6916-6918)aaC>aaT	p.N2306N	CR1_ENST00000367053.1_Silent_p.N1856N|CR1_ENST00000400960.2_Silent_p.N1856N|CR1_ENST00000367051.1_Silent_p.N1856N|CR1_ENST00000367052.1_Silent_p.N1856N	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1856					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.N1861N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGATCCAAAACGGGCATTACA	0.438																																					p.N2306N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6918T	1						.						113.0	109.0	110.0					1																	207791444		1960	4157	6117	205858067	SO:0001819	synonymous_variant	1378	exon42			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6918C>T	1.37:g.207791444C>T			205858067	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003899	0.07866	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.07	-5.8	0.02347	.	.	.	.	.	T	0.25269	0.0614	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	.	6.4242	0.21760	0.1275:0.2794:0.0:0.5931	.	.	.	.	M	479	.	.	T	+	2	0	CR1	205858067	0.001000	0.12720	0.001000	0.08648	0.147000	0.21601	-2.115000	0.01328	-1.243000	0.02519	-0.251000	0.11542	ACG		0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
CD46	4179	broad.mit.edu	37	1	207940416	207940416	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207940416A>C	ENST00000358170.2	+	6	888	c.732A>C	c.(730-732)aaA>aaC	p.K244N	CD46_ENST00000322918.5_Missense_Mutation_p.K244N|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.K244N|CD46_ENST00000357714.1_Missense_Mutation_p.K244N|CD46_ENST00000322875.4_Missense_Mutation_p.K244N|CD46_ENST00000361067.1_Missense_Mutation_p.K244N|CD46_ENST00000360212.2_Missense_Mutation_p.K244N|CD46_ENST00000441839.2_Missense_Mutation_p.K244N|CD46_ENST00000367047.1_Missense_Mutation_p.K181N|CD46_ENST00000354848.1_Missense_Mutation_p.K244N|CD46_ENST00000367041.1_Missense_Mutation_p.K244N|CD46_ENST00000367042.1_Missense_Mutation_p.K244N	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	244	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.K244N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATTTGGAAAAAAATTTTACT	0.368																																					p.K244N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A732C	1						.						69.0	71.0	70.0					1																	207940416		2203	4300	6503	206007039	SO:0001583	missense	4179	exon6			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.732A>C	1.37:g.207940416A>C	ENSP00000350893:p.Lys244Asn		206007039	NM_153826	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843570	0.51057	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.14	-3.24	0.05094	Complement control module (2);Sushi/SCR/CCP (3);	1.157720	0.06572	N	0.748798	T	0.52565	0.1742	N	0.11106	0.095	0.09310	N	1	P;B;P;P;B;D;P;P;P;P;P;D;D;D	0.61080	0.871;0.275;0.921;0.932;0.275;0.987;0.932;0.93;0.871;0.923;0.871;0.967;0.967;0.989	B;B;B;P;B;P;P;P;B;P;B;P;P;P	0.62014	0.321;0.085;0.445;0.666;0.085;0.834;0.469;0.599;0.321;0.522;0.321;0.639;0.639;0.897	T	0.49204	-0.8964	10	0.28530	T	0.3	.	5.5474	0.17071	0.2933:0.3156:0.3912:0.0	.	244;244;244;244;244;244;244;244;244;244;244;244;244;244	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	N	244;244;244;244;244;244;244;181;244;244;244;244	ENSP00000350893:K244N;ENSP00000346912:K244N;ENSP00000314664:K244N;ENSP00000356009:K244N;ENSP00000356008:K244N;ENSP00000350346:K244N;ENSP00000313875:K244N;ENSP00000356014:K181N;ENSP00000413543:K244N;ENSP00000354358:K244N;ENSP00000353342:K244N;ENSP00000418471:K244N	ENSP00000313875:K244N	K	+	3	2	CD46	206007039	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-0.326000	0.07965	-0.319000	0.08652	0.533000	0.62120	AAA		0.368	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
CD46	4179	broad.mit.edu	37	1	207958995	207958995	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:207958995G>A	ENST00000358170.2	+	12	1251	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Silent_p.P336P|CD46_ENST00000357714.1_Silent_p.P335P|CD46_ENST00000322875.4_Silent_p.P365P|CD46_ENST00000361067.1_Silent_p.P351P|CD46_ENST00000360212.2_Silent_p.P321P|CD46_ENST00000441839.2_Intron|CD46_ENST00000367047.1_Silent_p.P302P|CD46_ENST00000354848.1_Silent_p.P350P|CD46_ENST00000367041.1_Silent_p.P335P|CD46_ENST00000367042.1_Silent_p.P350P	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	365					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)	p.P365P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GTGTTGTCCCGTACAGATATC	0.348																																					p.P350P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1050A	1						.						237.0	239.0	238.0					1																	207958995		2203	4300	6503	206025618	SO:0001819	synonymous_variant	4179	exon11			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.1095G>A	1.37:g.207958995G>A			206025618	NM_153826	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	ENST00000358170.2	37	CCDS1485.1																																																																																				0.348	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
MUL1	79594	broad.mit.edu	37	1	20827771	20827771	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:20827771C>A	ENST00000264198.3	-	4	607	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	157					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E157D(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GGTGGAACTTCTCATACACAG	0.582																																					p.E157D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G471T	1						.						93.0	94.0	94.0					1																	20827771		2203	4300	6503	20700358	SO:0001583	missense	79594	exon4			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.471G>T	1.37:g.20827771C>A	ENSP00000264198:p.Glu157Asp		20700358	NM_024544	B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	CCDS208.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549417	0.65311	.	.	ENSG00000090432	ENST00000264198	T	0.25085	1.82	6.17	6.17	0.99709	.	0.042223	0.85682	D	0.000000	T	0.27205	0.0667	L	0.32530	0.975	0.80722	D	1	D	0.53151	0.958	P	0.46172	0.506	T	0.00438	-1.1739	10	0.26408	T	0.33	-35.5411	18.3732	0.90420	0.0:1.0:0.0:0.0	.	157	Q969V5	MUL1_HUMAN	D	157	ENSP00000264198:E157D	ENSP00000264198:E157D	E	-	3	2	MUL1	20700358	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.941000	0.99782	0.655000	0.94253	GAG		0.582	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544	
PLXNA2	5362	broad.mit.edu	37	1	208234146	208234146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:208234146G>A	ENST00000367033.3	-	13	3380	c.2623C>T	c.(2623-2625)Cga>Tga	p.R875*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	875	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R875*(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGTCACTCGCGTCCCTCCT	0.587																																					p.R875X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2623T	1						.						59.0	55.0	56.0					1																	208234146		2203	4300	6503	206300769	SO:0001587	stop_gained	5362	exon13			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2623C>T	1.37:g.208234146G>A	ENSP00000356000:p.Arg875*		206300769	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Nonsense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	47	13.437591	0.99742	.	.	ENSG00000076356	ENST00000367033	.	.	.	4.75	4.75	0.60458	.	0.056265	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.151	0.54050	0.0:0.0:0.7092:0.2908	.	.	.	.	X	875	.	ENSP00000356000:R875X	R	-	1	2	PLXNA2	206300769	0.953000	0.32496	0.995000	0.50966	0.961000	0.63080	1.656000	0.37355	2.200000	0.70718	0.655000	0.94253	CGA		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
MIR205HG	642587	broad.mit.edu	37	1	209602713	209602713	+	lincRNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209602713C>A	ENST00000384891.1	+	0	0					NR_029622.1				MIR205 host gene (non-protein coding)																		GGAGTCATTTCTGTTCCGCAC	0.483																																					p.S24Y												.	.	0			c.C71A	1						.						60.0	62.0	62.0					1																	209602713		1873	4086	5959	207669336			642587	exon2					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209602713C>A			207669336	NM_001104548		Missense_Mutation	SNP	ENST00000384891.1	37																																																																																					0.483	MIR205HG-202	KNOWN	basic	miRNA	lincRNA			
CAMK1G	57172	broad.mit.edu	37	1	209778899	209778899	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209778899C>A	ENST00000009105.1	+	5	560	c.315C>A	c.(313-315)ctC>ctA	p.L105L	CAMK1G_ENST00000361322.2_Silent_p.L105L			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L105L(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GTGGGGAGCTCTTTGACCGGA	0.498																																					p.L105L	Ovarian(163;530 1939 9680 28669 48710)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315A	1						.						136.0	132.0	134.0					1																	209778899		2203	4300	6503	207845522	SO:0001819	synonymous_variant	57172	exon5				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.315C>A	1.37:g.209778899C>A			207845522	NM_020439	Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	CCDS1486.1																																																																																				0.498	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
CAMK1G	57172	broad.mit.edu	37	1	209782394	209782394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209782394C>A	ENST00000009105.1	+	8	950	c.705C>A	c.(703-705)taC>taA	p.Y235*	CAMK1G_ENST00000361322.2_Nonsense_Mutation_p.Y235*|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.Y235*(1)		breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AGGAGGGCTACTATGAGTTTG	0.493																																					p.Y235X	Ovarian(163;530 1939 9680 28669 48710)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C705A	1						.						172.0	156.0	161.0					1																	209782394		2203	4300	6503	207849017	SO:0001587	stop_gained	57172	exon8				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.705C>A	1.37:g.209782394C>A	ENSP00000009105:p.Tyr235*		207849017	NM_020439	Q86UH5|Q9Y3J7	Nonsense_Mutation	SNP	ENST00000009105.1	37	CCDS1486.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.482870|5.482870	0.96307|0.96307	.|.	.|.	ENSG00000008118|ENSG00000008118	ENST00000423146|ENST00000009105;ENST00000361322	T|.	0.64991|.	-0.13|.	5.48|5.48	1.98|1.98	0.26296|0.26296	.|.	.|0.136420	.|0.33875	.|N	.|0.004476	T|.	0.41003|.	0.1140|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48502|.	-0.9030|.	5|.	0.87932|0.31617	D|T	0|0.26	.|.	6.5874|6.5874	0.22628|0.22628	0.1279:0.6329:0.0:0.2392|0.1279:0.6329:0.0:0.2392	.|.	.|.	.|.	.|.	N|X	210|235	ENSP00000392173:T210N|.	ENSP00000392173:T210N|ENSP00000009105:Y235X	T|Y	+|+	2|3	0|2	CAMK1G|CAMK1G	207849017|207849017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.670000|0.670000	0.25157|0.25157	0.630000|0.630000	0.30394|0.30394	-0.367000|-0.367000	0.07326|0.07326	ACT|TAC		0.493	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
G0S2	50486	broad.mit.edu	37	1	209849137	209849137	+	Silent	SNP	C	C	T	rs199631971		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209849137C>T	ENST00000367029.4	+	2	270	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP1-28O10.1_ENST00000441672.1_RNA|RP1-28O10.1_ENST00000445272.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	36					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)		p.F36F(1)		large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		TGGCCCTCTTCGGCGTGGTGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17190	0.0		0.0	False		,,,				2504	0.0				p.F36F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	1						.						43.0	34.0	37.0					1																	209849137		2203	4299	6502	207915760	SO:0001819	synonymous_variant	50486	exon2				CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.108C>T	1.37:g.209849137C>T			207915760	NM_015714	Q6FGC8	Silent	SNP	ENST00000367029.4	37	CCDS1488.1																																																																																				0.682	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714	
TRAF3IP3	80342	broad.mit.edu	37	1	209946308	209946308	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209946308G>T	ENST00000367024.1	+	9	1234	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	TRAF3IP3_ENST00000477431.1_5'UTR|TRAF3IP3_ENST00000367023.1_5'UTR|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.D240Y|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.D220Y|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.D220Y|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.D220Y			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	240						integral component of membrane (GO:0016021)		p.D220Y(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCTTAATGAAGACAAACTGAA	0.418																																					p.D240Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718T	1						.						102.0	93.0	96.0					1																	209946308		2203	4300	6503	208012931	SO:0001583	missense	80342	exon9				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.718G>T	1.37:g.209946308G>T	ENSP00000355991:p.Asp240Tyr		208012931	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064908	0.55432	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.72615	-0.4;-0.67;-0.59;-0.67;-0.59	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.988;0.983;0.989;0.983	D	0.85912	0.1441	10	0.87932	D	0	-5.4293	17.6886	0.88263	0.0:0.0:1.0:0.0	.	240;220;240;220	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	Y	220;240;223;220;240;220	ENSP00000383743:D220Y;ENSP00000355992:D240Y;ENSP00000355993:D220Y;ENSP00000355991:D240Y;ENSP00000010338:D220Y	ENSP00000010338:D220Y	D	+	1	0	TRAF3IP3	208012931	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	5.709000	0.68384	2.514000	0.84764	0.462000	0.41574	GAC		0.418	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
C1orf74	148304	broad.mit.edu	37	1	209956321	209956321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:209956321G>T	ENST00000294811.1	-	2	915	c.659C>A	c.(658-660)tCt>tAt	p.S220Y		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	220								p.S220Y(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GACACTAAAAGAATAGAGCAG	0.498																																					p.S220Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C659A	1						.						79.0	88.0	85.0					1																	209956321		2203	4300	6503	208022944	SO:0001583	missense	148304	exon2			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.659C>A	1.37:g.209956321G>T	ENSP00000294811:p.Ser220Tyr		208022944	NM_152485		Missense_Mutation	SNP	ENST00000294811.1	37	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683102	0.88542	.	.	ENSG00000162757	ENST00000294811	T	0.62788	0.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82092	-0.0628	10	0.87932	D	0	-22.676	19.4121	0.94679	0.0:0.0:1.0:0.0	.	220	Q96LT6	CA074_HUMAN	Y	220	ENSP00000294811:S220Y	ENSP00000294811:S220Y	S	-	2	0	C1orf74	208022944	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.059000	0.93902	2.595000	0.87683	0.655000	0.94253	TCT		0.498	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485	
DIEXF	27042	broad.mit.edu	37	1	210001487	210001487	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210001487T>G	ENST00000491415.2	+	1	136	c.79T>G	c.(79-81)Ttc>Gtc	p.F27V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	27					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F27V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TCTTCGAGATTTCGGCGAGGA	0.557											OREG0014221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F27V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T79G	1						.						67.0	63.0	64.0					1																	210001487		2203	4300	6503	208068110	SO:0001583	missense	27042	exon1			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.79T>G	1.37:g.210001487T>G	ENSP00000419005:p.Phe27Val	2187	208068110	NM_014388	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736715	0.89482	.	.	ENSG00000117597	ENST00000491415	T	0.48201	0.82	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.68593	2.085	0.53688	D	0.999978	D	0.76494	0.999	D	0.80764	0.994	T	0.69727	-0.5067	10	0.62326	D	0.03	-20.9733	14.7946	0.69868	0.0:0.0:0.0:1.0	.	27	Q68CQ4	DIEXF_HUMAN	V	27	ENSP00000419005:F27V	ENSP00000419005:F27V	F	+	1	0	DIEXF	208068110	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.343000	0.65976	1.967000	0.57214	0.533000	0.62120	TTC		0.557	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
DIEXF	27042	broad.mit.edu	37	1	210006604	210006604	+	Missense_Mutation	SNP	G	G	A	rs538401701	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210006604G>A	ENST00000491415.2	+	4	520	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	155	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E155K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AACATCCCCCGAAGAGTTCAC	0.453													G|||	3	0.000599042	0.0	0.0	5008	,	,		17460	0.0		0.0	False		,,,				2504	0.0031				p.E155K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	1						.						98.0	89.0	92.0					1																	210006604		2203	4300	6503	208073227	SO:0001583	missense	27042	exon4			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.463G>A	1.37:g.210006604G>A	ENSP00000419005:p.Glu155Lys		208073227	NM_014388	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749238	0.30955	.	.	ENSG00000117597	ENST00000491415	T	0.51817	0.69	5.68	3.82	0.43975	.	0.311270	0.39274	N	0.001418	T	0.33847	0.0877	L	0.53249	1.67	0.30988	N	0.721683	P	0.46457	0.878	B	0.33521	0.165	T	0.38950	-0.9637	10	0.09084	T	0.74	-8.7707	12.0825	0.53680	0.1385:0.0:0.8615:0.0	.	155	Q68CQ4	DIEXF_HUMAN	K	155	ENSP00000419005:E155K	ENSP00000419005:E155K	E	+	1	0	DIEXF	208073227	1.000000	0.71417	0.065000	0.19835	0.052000	0.14988	4.927000	0.63440	0.772000	0.33382	0.650000	0.86243	GAA		0.453	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
SYT14	255928	broad.mit.edu	37	1	210194557	210194557	+	Missense_Mutation	SNP	G	G	A	rs148481999	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210194557G>A	ENST00000472886.1	+	4	414	c.400G>A	c.(400-402)Gca>Aca	p.A134T	SYT14_ENST00000534859.1_Missense_Mutation_p.A134T|SYT14_ENST00000399639.2_Missense_Mutation_p.A134T|SYT14_ENST00000422431.1_Missense_Mutation_p.A179T|SYT14_ENST00000367015.1_Missense_Mutation_p.A96T|SYT14_ENST00000537238.1_Missense_Mutation_p.A96T|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.A134T			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	134					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.A134T(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCCTCTATCGGCAGAGTATGA	0.393																																					p.A134T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400A	1						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	8.1+/-20.4	0,4,2199	121.0	110.0	113.0		535,400,535,400	5.2	1.0	1	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense,missense	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	58,58,58,58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	179/620,134/575,179/601,134/556	210194557	4,13002	2203	4300	6503	208261180	SO:0001583	missense	255928	exon4			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.400G>A	1.37:g.210194557G>A	ENSP00000418901:p.Ala134Thr		208261180	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249089	0.80024	9.08E-4	0.0	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.18338	3.34;3.2;2.22;3.47;3.21;3.46;3.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	L	0.54323	1.7	0.80722	D	1	P;P;D;P	0.67145	0.915;0.915;0.996;0.774	B;B;D;B	0.77557	0.217;0.23;0.99;0.389	T	0.02844	-1.1103	10	0.39692	T	0.17	-12.9934	18.9756	0.92735	0.0:0.0:1.0:0.0	.	162;134;134;179	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	T	179;134;134;96;134;134;96	ENSP00000389039:A179T;ENSP00000442891:A134T;ENSP00000445837:A134T;ENSP00000437423:A96T;ENSP00000355986:A134T;ENSP00000418901:A134T;ENSP00000355982:A96T	ENSP00000355982:A96T	A	+	1	0	SYT14	208261180	1.000000	0.71417	0.966000	0.40874	0.860000	0.49131	8.054000	0.89451	2.571000	0.86741	0.650000	0.86243	GCA		0.393	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
KIF17	57576	broad.mit.edu	37	1	21009301	21009301	+	Missense_Mutation	SNP	G	G	A	rs186978787		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21009301G>A	ENST00000247986.2	-	11	2618	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	KIF17_ENST00000400463.3_Missense_Mutation_p.R770C|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.R670C			Q9P2E2	KIF17_HUMAN	kinesin family member 17	770					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R770C(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TAGCGCTTGCGCCGCTTGTGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19923	0.0		0.001	False		,,,				2504	0.0				p.R770C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2308T	1						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	92.0	79.0	83.0		2308,2308	4.8	1.0	1		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIF17	NM_001122819.1,NM_020816.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	770/1029,770/1030	21009301	1,13005	2203	4300	6503	20881888	SO:0001583	missense	57576	exon11			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2308C>T	1.37:g.21009301G>A	ENSP00000247986:p.Arg770Cys		20881888	NM_001122819	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	CCDS213.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.87	2.664178	0.47572	0.0	1.16E-4	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.75704	-0.96;-0.81;-0.81	5.76	4.85	0.62838	.	0.301707	0.17999	U	0.154967	D	0.85673	0.5751	M	0.78344	2.41	0.40039	D	0.975627	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.987;0.995;0.987	D	0.86755	0.1963	10	0.59425	D	0.04	.	13.7204	0.62723	0.0:0.0:0.8461:0.1539	.	770;770;770	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	C	670;770;770;151	ENSP00000364184:R670C;ENSP00000383311:R770C;ENSP00000247986:R770C	ENSP00000247986:R770C	R	-	1	0	KIF17	20881888	0.853000	0.29707	0.987000	0.45799	0.103000	0.19146	1.097000	0.30988	1.424000	0.47217	0.563000	0.77884	CGC		0.612	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
SYT14	255928	broad.mit.edu	37	1	210273383	210273383	+	Silent	SNP	G	G	A	rs370207388		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210273383G>A	ENST00000472886.1	+	6	755	c.741G>A	c.(739-741)tcG>tcA	p.S247S	SYT14_ENST00000534859.1_Silent_p.S247S|SYT14_ENST00000399639.2_Silent_p.S247S|SYT14_ENST00000422431.1_Silent_p.S292S|SYT14_ENST00000367015.1_Silent_p.S209S|SYT14_ENST00000537238.1_Silent_p.S209S|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Silent_p.S247S			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	247					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.S247S(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GATCATCTTCGCAGCTTCCTA	0.348																																					p.S247S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741A	1						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	53.0	51.0	51.0		876,741,876,741	2.2	1.0	1		51	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYT14	NM_001146261.1,NM_001146262.1,NM_001146264.1,NM_153262.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	292/620,247/575,292/601,247/556	210273383	1,13005	2203	4300	6503	208340006	SO:0001819	synonymous_variant	255928	exon6			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.741G>A	1.37:g.210273383G>A			208340006	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	CCDS31014.1																																																																																				0.348	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
HHAT	55733	broad.mit.edu	37	1	210796900	210796900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210796900C>T	ENST00000367010.1	+	11	1503	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	HHAT_ENST00000367009.1_Nonsense_Mutation_p.R116*|HHAT_ENST00000537898.1_Nonsense_Mutation_p.R361*|HHAT_ENST00000391905.3_Nonsense_Mutation_p.R426*|HHAT_ENST00000308852.6_Nonsense_Mutation_p.R381*|HHAT_ENST00000545781.1_Nonsense_Mutation_p.R363*|HHAT_ENST00000545154.1_Nonsense_Mutation_p.R427*|HHAT_ENST00000413764.2_Nonsense_Mutation_p.R426*|HHAT_ENST00000261458.3_Nonsense_Mutation_p.R426*|HHAT_ENST00000541565.1_Nonsense_Mutation_p.R289*	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	426					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)	p.R426*(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		AGCTCGCCGTCGATTCCACGC	0.512																																					p.R426X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1276T	1						.						287.0	267.0	274.0					1																	210796900		2203	4300	6503	208863523	SO:0001587	stop_gained	55733	exon11			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1276C>T	1.37:g.210796900C>T	ENSP00000355977:p.Arg426*		208863523	NM_018194	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Nonsense_Mutation	SNP	ENST00000367010.1	37	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	37	5.991240	0.97179	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	.	.	.	5.87	4.96	0.65561	.	0.070853	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-12.052	13.7417	0.62852	0.1541:0.8458:0.0:0.0	.	.	.	.	X	426;289;427;361;426;363;426;381;426;116	.	ENSP00000261458:R426X	R	+	1	2	HHAT	208863523	0.970000	0.33590	0.109000	0.21407	0.003000	0.03518	2.636000	0.46545	1.475000	0.48197	-0.175000	0.13238	CGA		0.512	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194	
KCNH1	3756	broad.mit.edu	37	1	210856886	210856886	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210856886G>A	ENST00000271751.4	-	11	2734	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	KCNH1_ENST00000367007.4_Missense_Mutation_p.R876W			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	903					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.R903W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGGGACTCCGATCCTGGGGA	0.607																																					p.R876W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2626T	1						.						64.0	57.0	59.0					1																	210856886		2203	4300	6503	208923509	SO:0001583	missense	3756	exon11			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2707C>T	1.37:g.210856886G>A	ENSP00000271751:p.Arg903Trp		208923509	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850855	0.51270	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99014	-5.31;-5.33	4.93	2.99	0.34606	.	0.056524	0.64402	D	0.000001	D	0.97860	0.9297	L	0.46157	1.445	0.49798	D	0.999822	D;D	0.61697	0.975;0.99	P;P	0.48571	0.582;0.462	D	0.96541	0.9400	10	0.72032	D	0.01	.	13.7222	0.62735	0.0:0.0:0.7199:0.2801	.	876;903	Q14CL3;O95259	.;KCNH1_HUMAN	W	903;876	ENSP00000271751:R903W;ENSP00000355974:R876W	ENSP00000271751:R903W	R	-	1	2	KCNH1	208923509	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	4.346000	0.59367	0.453000	0.26858	0.561000	0.74099	CGG		0.607	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	broad.mit.edu	37	1	210857205	210857205	+	Silent	SNP	C	C	T	rs138875472		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210857205C>T	ENST00000271751.4	-	11	2415	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	KCNH1_ENST00000367007.4_Silent_p.T769T			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	796					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.T796T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGATACGGGCGTGGCAGGAC	0.667																																					p.T769T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2307A	1						.	C	,	0,4406		0,0,2203	57.0	55.0	56.0		2307,2388	-1.3	1.0	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNH1	NM_002238.3,NM_172362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	769/963,796/990	210857205	1,13005	2203	4300	6503	208923828	SO:0001819	synonymous_variant	3756	exon11			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2388G>A	1.37:g.210857205C>T			208923828	NM_002238	B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	CCDS1496.1																																																																																				0.667	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	broad.mit.edu	37	1	210857360	210857360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:210857360G>A	ENST00000271751.4	-	11	2260	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.R718*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	745	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.R745*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTCTGCTGTCGGAATCTCTGG	0.592																																					p.R718X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2152T	1						.						38.0	42.0	41.0					1																	210857360		2203	4300	6503	208923983	SO:0001587	stop_gained	3756	exon11			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2233C>T	1.37:g.210857360G>A	ENSP00000271751:p.Arg745*		208923983	NM_002238	B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	38	7.113523	0.98074	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	4.62	4.62	0.57501	.	0.062938	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0384	0.47816	0.0:0.0:0.6727:0.3273	.	.	.	.	X	745;718	.	ENSP00000271751:R745X	R	-	1	2	KCNH1	208923983	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	4.726000	0.61986	2.120000	0.65058	0.561000	0.74099	CGA		0.592	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	broad.mit.edu	37	1	211093327	211093327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211093327C>A	ENST00000271751.4	-	7	1144	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.E346*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	373					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.E373*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCTCCATATTCAATGTAGTGG	0.557																																					p.E346X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1036T	1						.						119.0	119.0	119.0					1																	211093327		2203	4300	6503	209159950	SO:0001587	stop_gained	3756	exon7			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1117G>T	1.37:g.211093327C>A	ENSP00000271751:p.Glu373*		209159950	NM_002238	B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	40	8.319735	0.98757	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.8072	0.92041	0.0:1.0:0.0:0.0	.	.	.	.	X	373;346	.	ENSP00000271751:E373X	E	-	1	0	KCNH1	209159950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.691000	0.91804	0.655000	0.94253	GAA		0.557	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KCNH1	3756	broad.mit.edu	37	1	211280669	211280669	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211280669A>G	ENST00000271751.4	-	2	157	c.130T>C	c.(130-132)Tac>Cac	p.Y44H	KCNH1_ENST00000367007.4_Missense_Mutation_p.Y44H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	44	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Y44H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCATTGCTGTACACAATAGGC	0.408																																					p.Y44H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T130C	1						.						137.0	137.0	137.0					1																	211280669		2203	4300	6503	209347292	SO:0001583	missense	3756	exon2			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.130T>C	1.37:g.211280669A>G	ENSP00000271751:p.Tyr44His		209347292	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517731	0.85495	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99663	-6.33;-6.33	5.62	5.62	0.85841	PAS (3);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97543	1.0087	10	0.87932	D	0	.	15.0199	0.71621	1.0:0.0:0.0:0.0	.	44;44	Q14CL3;O95259	.;KCNH1_HUMAN	H	44	ENSP00000271751:Y44H;ENSP00000355974:Y44H	ENSP00000271751:Y44H	Y	-	1	0	KCNH1	209347292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.129000	0.65627	0.533000	0.62120	TAC		0.408	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
TRAF5	7188	broad.mit.edu	37	1	211542888	211542888	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211542888T>C	ENST00000261464.5	+	9	938	c.884T>C	c.(883-885)tTt>tCt	p.F295S	TRAF5_ENST00000427925.2_Missense_Mutation_p.F189S|TRAF5_ENST00000336184.2_Missense_Mutation_p.F295S|TRAF5_ENST00000367004.3_Missense_Mutation_p.F295S	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	295					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F295S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTCAAGCAGTTTGCACAGTTG	0.393																																					p.F295S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T884C	1						.						130.0	129.0	129.0					1																	211542888		2203	4300	6503	209609511	SO:0001583	missense	7188	exon9			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.884T>C	1.37:g.211542888T>C	ENSP00000261464:p.Phe295Ser		209609511	NM_004619	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	T	3.235	-0.156613	0.06544	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;D;T;T	0.82711	2.14;-1.64;2.14;2.14	4.12	2.97	0.34412	.	0.987960	0.08268	N	0.971882	T	0.78149	0.4238	L	0.50333	1.59	0.26050	N	0.981497	B;B;B	0.22604	0.045;0.034;0.072	B;B;B	0.23852	0.049;0.03;0.042	T	0.60747	-0.7202	10	0.21540	T	0.41	-14.0971	9.1492	0.36953	0.2886:0.0:0.0:0.7114	.	189;306;295	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	S	295;189;295;295	ENSP00000336825:F295S;ENSP00000389891:F189S;ENSP00000261464:F295S;ENSP00000355971:F295S	ENSP00000261464:F295S	F	+	2	0	TRAF5	209609511	1.000000	0.71417	0.990000	0.47175	0.424000	0.31475	2.425000	0.44723	0.454000	0.26884	-0.991000	0.02546	TTT		0.393	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	
HP1BP3	50809	broad.mit.edu	37	1	21106929	21106929	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21106929G>A	ENST00000312239.5	-	2	144	c.5C>T	c.(4-6)gCg>gTg	p.A2V	HP1BP3_ENST00000375000.1_Missense_Mutation_p.A2V|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	2					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A2V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CGTATCAGTCGCCATTTTAAA	0.468																																					p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	1						.						79.0	73.0	75.0					1																	21106929		2203	4300	6503	20979516	SO:0001583	missense	50809	exon2			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.5C>T	1.37:g.21106929G>A	ENSP00000312625:p.Ala2Val		20979516	NM_016287	A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240317	0.79912	.	.	ENSG00000127483	ENST00000312239;ENST00000438032;ENST00000417710;ENST00000375000;ENST00000414993	T;T	0.51071	0.72;1.74	5.81	4.9	0.64082	.	0.000000	0.64402	D	0.000007	T	0.34250	0.0891	N	0.19112	0.55	0.41343	D	0.987316	P;P	0.50066	0.931;0.569	B;B	0.42062	0.374;0.073	T	0.31081	-0.9956	10	0.87932	D	0	-8.4817	12.6127	0.56560	0.0758:0.0:0.9242:0.0	.	2;2	Q5SSJ5-5;Q5SSJ5	.;HP1B3_HUMAN	V	2	ENSP00000312625:A2V;ENSP00000403039:A2V	ENSP00000312625:A2V	A	-	2	0	HP1BP3	20979516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.747000	0.62141	2.755000	0.94549	0.650000	0.86243	GCG		0.468	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
TRAF5	7188	broad.mit.edu	37	1	211545787	211545787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211545787C>A	ENST00000261464.5	+	11	1471	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	TRAF5_ENST00000427925.2_Missense_Mutation_p.L367M|TRAF5_ENST00000336184.2_Missense_Mutation_p.L473M|TRAF5_ENST00000367004.3_Missense_Mutation_p.L473M	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	473	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L473M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GTTTGACTCACTGTTGCAGTG	0.532																																					p.L473M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417A	1						.						107.0	96.0	100.0					1																	211545787		2203	4300	6503	209612410	SO:0001583	missense	7188	exon11			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1417C>A	1.37:g.211545787C>A	ENSP00000261464:p.Leu473Met		209612410	NM_004619	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195644	0.58126	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.51	1.0	0.19881	TRAF-type (1);TRAF-like (1);MATH (3);	0.158198	0.44688	D	0.000432	T	0.63570	0.2522	M	0.91300	3.195	0.38485	D	0.947824	D;D;D	0.76494	0.999;0.997;0.994	D;D;D	0.71414	0.969;0.973;0.952	T	0.64715	-0.6342	10	0.66056	D	0.02	-14.0361	5.6523	0.17622	0.127:0.5437:0.0:0.3293	.	367;484;473	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	M	473;367;473;473	ENSP00000336825:L473M;ENSP00000389891:L367M;ENSP00000261464:L473M;ENSP00000355971:L473M	ENSP00000261464:L473M	L	+	1	2	TRAF5	209612410	0.072000	0.21174	0.994000	0.49952	0.994000	0.84299	0.522000	0.22909	0.383000	0.24910	-0.143000	0.13931	CTG		0.532	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619	
NEK2	4751	broad.mit.edu	37	1	211846853	211846853	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211846853A>C	ENST00000366999.4	-	3	665	c.527T>G	c.(526-528)tTt>tGt	p.F176C	NEK2_ENST00000366998.3_Missense_Mutation_p.F176C|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000462283.1_5'Flank|NEK2_ENST00000540251.1_Missense_Mutation_p.F133C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.F176C(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TGTGCCAACAAATGTTTTTGC	0.343																																					p.F176C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T527G	1						.						70.0	73.0	72.0					1																	211846853		2203	4300	6503	209913476	SO:0001583	missense	4751	exon3			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.527T>G	1.37:g.211846853A>C	ENSP00000355966:p.Phe176Cys		209913476	NM_002497	Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184952	0.78677	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.42131	1.73;0.98;1.73	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.969;0.982;0.969	T	0.51212	-0.8734	10	0.29301	T	0.29	.	15.4096	0.74908	1.0:0.0:0.0:0.0	.	176;176;176	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	C	176;133;176	ENSP00000355966:F176C;ENSP00000440237:F133C;ENSP00000355965:F176C	ENSP00000355965:F176C	F	-	2	0	NEK2	209913476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.079000	0.76829	2.095000	0.63458	0.460000	0.39030	TTT		0.343	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497	
LPGAT1	9926	broad.mit.edu	37	1	211952346	211952346	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:211952346C>T	ENST00000366997.4	-	6	994	c.768G>A	c.(766-768)acG>acA	p.T256T	LPGAT1_ENST00000366996.1_Silent_p.T256T	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	256					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.T256T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GATAAGCTATCGTTGTATCTA	0.338																																					p.T256T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G768A	1						.						165.0	169.0	168.0					1																	211952346		2203	4300	6503	210018969	SO:0001819	synonymous_variant	9926	exon6			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.768G>A	1.37:g.211952346C>T			210018969	NM_014873	Q53YL2	Silent	SNP	ENST00000366997.4	37	CCDS31018.1																																																																																				0.338	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873	
INTS7	25896	broad.mit.edu	37	1	212148535	212148535	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212148535G>T	ENST00000366994.3	-	13	1892	c.1788C>A	c.(1786-1788)ttC>ttA	p.F596L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.F547L|INTS7_ENST00000366993.3_Missense_Mutation_p.F596L|INTS7_ENST00000366992.3_Missense_Mutation_p.F596L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	596					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.F596L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTTTGTGATAGAATTTTAAAG	0.378																																					p.F547L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1641A	1						.						69.0	67.0	68.0					1																	212148535		2203	4300	6503	210215158	SO:0001583	missense	25896	exon12			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1788C>A	1.37:g.212148535G>T	ENSP00000355961:p.Phe596Leu		210215158	NM_001199809	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711850	0.30322	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.64438	1.15;1.17;1.16;-0.1	6.06	6.06	0.98353	.	0.138414	0.64402	D	0.000003	T	0.28962	0.0719	N	0.01048	-1.04	0.43304	D	0.995306	B;B;B;B	0.21606	0.058;0.058;0.058;0.058	B;B;B;B	0.18561	0.022;0.022;0.022;0.022	T	0.40289	-0.9571	10	0.10111	T	0.7	-14.5861	11.0773	0.48038	0.0672:0.0:0.8025:0.1303	.	547;596;596;596	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	L	596;596;596;547	ENSP00000355961:F596L;ENSP00000355960:F596L;ENSP00000355959:F596L;ENSP00000388908:F547L	ENSP00000355959:F596L	F	-	3	2	INTS7	210215158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.882000	0.98803	0.655000	0.94253	TTC		0.378	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
PPP2R5A	5525	broad.mit.edu	37	1	212530531	212530531	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212530531C>T	ENST00000261461.2	+	11	1705	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Silent_p.N320N	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	377					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.N377N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCTGGAATAACGAATATATTC	0.318																																					p.N320N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C960T	1						.						92.0	93.0	93.0					1																	212530531		2202	4298	6500	210597154	SO:0001819	synonymous_variant	5525	exon11			BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1131C>T	1.37:g.212530531C>T			210597154	NM_001199756	B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Silent	SNP	ENST00000261461.2	37	CCDS1503.1																																																																																				0.318	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243	
EIF4G3	8672	broad.mit.edu	37	1	21191648	21191648	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21191648G>T	ENST00000264211.8	-	15	2756	c.2562C>A	c.(2560-2562)gtC>gtA	p.V854V	EIF4G3_ENST00000374935.3_Silent_p.V574V|EIF4G3_ENST00000602326.1_Silent_p.V860V|EIF4G3_ENST00000374937.3_Silent_p.V860V|EIF4G3_ENST00000400422.1_Silent_p.V854V|EIF4G3_ENST00000537738.1_Silent_p.V344V|EIF4G3_ENST00000536266.1_Silent_p.V458V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	854	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V860V(1)|p.V854V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTTCTCAAAGACATCATCAT	0.418																																					p.V854V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2562A	1						.						202.0	183.0	190.0					1																	21191648		2203	4300	6503	21064235	SO:0001819	synonymous_variant	8672	exon16			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2562C>A	1.37:g.21191648G>T			21064235	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.418	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
TMEM206	55248	broad.mit.edu	37	1	212548612	212548612	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212548612G>T	ENST00000261455.4	-	7	951	c.814C>A	c.(814-816)Cca>Aca	p.P272T	TMEM206_ENST00000535273.1_Missense_Mutation_p.P333T	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	272						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.P272T(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TTGGCAGCTGGCCTCTGGTCA	0.438																																					p.P333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997A	1						.						75.0	73.0	74.0					1																	212548612		2203	4300	6503	210615235	SO:0001583	missense	55248	exon8			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.814C>A	1.37:g.212548612G>T	ENSP00000261455:p.Pro272Thr		210615235	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	ENST00000261455.4	37	CCDS1504.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908235	0.52333	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	6.08	6.08	0.98989	.	0.225461	0.47455	D	0.000233	T	0.36054	0.0953	N	0.19112	0.55	0.45852	D	0.998714	P;B	0.35793	0.521;0.275	B;B	0.34652	0.187;0.067	T	0.18178	-1.0345	9	0.32370	T	0.25	-26.3648	10.505	0.44828	0.0:0.1195:0.7003:0.1802	.	333;272	B7Z4D6;Q9H813	.;TM206_HUMAN	T	272;333	.	ENSP00000261455:P272T	P	-	1	0	TMEM206	210615235	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	4.134000	0.57990	2.894000	0.99253	0.591000	0.81541	CCA		0.438	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
EIF4G3	8672	broad.mit.edu	37	1	21212819	21212819	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21212819C>A	ENST00000264211.8	-	13	2325	c.2131G>T	c.(2131-2133)Gaa>Taa	p.E711*	EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.E431*|EIF4G3_ENST00000602326.1_Nonsense_Mutation_p.E717*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.E717*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.E711*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.E201*|EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.E315*	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	711	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E711*(1)|p.E717*(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTCTGGGTTCTCTTCTTTGG	0.413																																					p.E711X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2131T	1						.						195.0	192.0	193.0					1																	21212819		2203	4300	6503	21085406	SO:0001587	stop_gained	8672	exon14			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2131G>T	1.37:g.21212819C>A	ENSP00000264211:p.Glu711*		21085406	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Nonsense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	45	11.990416	0.99625	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	.	.	.	5.2	5.2	0.72013	.	0.130769	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.8725	19.1062	0.93296	0.0:1.0:0.0:0.0	.	.	.	.	X	711;907;711;431;201;717;315	.	ENSP00000264211:E711X	E	-	1	0	EIF4G3	21085406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.246000	0.72405	2.571000	0.86741	0.655000	0.94253	GAA		0.413	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
NENF	29937	broad.mit.edu	37	1	212619266	212619266	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212619266G>T	ENST00000366988.3	+	4	494	c.437G>T	c.(436-438)aGa>aTa	p.R146I	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	146					positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)	p.R146I(1)		endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGCCCGGAGAATTCTCAAT	0.547																																					p.R146I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437T	1						.						118.0	112.0	114.0					1																	212619266		2203	4300	6503	210685889	SO:0001583	missense	29937	exon4				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.437G>T	1.37:g.212619266G>T	ENSP00000355955:p.Arg146Ile		210685889	NM_013349	A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	ENST00000366988.3	37	CCDS1505.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852290	0.91355	.	.	ENSG00000117691	ENST00000366988	T	0.79352	-1.26	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.88966	0.3397	10	0.62326	D	0.03	-4.8993	18.7286	0.91724	0.0:0.0:1.0:0.0	.	146	Q9UMX5	NENF_HUMAN	I	146	ENSP00000355955:R146I	ENSP00000355955:R146I	R	+	2	0	NENF	210685889	1.000000	0.71417	0.199000	0.23439	0.943000	0.58893	9.451000	0.97610	2.490000	0.84030	0.585000	0.79938	AGA		0.547	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1	NM_013349	
FAM71A	149647	broad.mit.edu	37	1	212798608	212798608	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212798608C>A	ENST00000294829.3	+	1	820	c.389C>A	c.(388-390)tCt>tAt	p.S130Y	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	130						nucleus (GO:0005634)		p.S130Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTACGGATCTCTGTTCAAGAC	0.522																																					p.S130Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389A	1						.						97.0	101.0	100.0					1																	212798608		2203	4300	6503	210865231	SO:0001583	missense	149647	exon1				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.389C>A	1.37:g.212798608C>A	ENSP00000294829:p.Ser130Tyr		210865231	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087165	0.36855	.	.	ENSG00000162771	ENST00000294829	T	0.18810	2.19	4.53	4.53	0.55603	.	0.092777	0.44902	D	0.000401	T	0.40815	0.1132	L	0.58302	1.8	0.24318	N	0.995053	D	0.89917	1.0	D	0.77004	0.989	T	0.11251	-1.0595	10	0.56958	D	0.05	-16.0992	13.0067	0.58710	0.0:1.0:0.0:0.0	.	130	Q8IYT1	FA71A_HUMAN	Y	130	ENSP00000294829:S130Y	ENSP00000294829:S130Y	S	+	2	0	FAM71A	210865231	0.959000	0.32827	0.294000	0.24946	0.141000	0.21300	2.268000	0.43338	2.521000	0.84997	0.557000	0.71058	TCT		0.522	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
FAM71A	149647	broad.mit.edu	37	1	212798955	212798955	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:212798955A>C	ENST00000294829.3	+	1	1167	c.736A>C	c.(736-738)Aat>Cat	p.N246H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	246						nucleus (GO:0005634)		p.N246H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGGACTCCAAAATGACTTTAA	0.527																																					p.N246H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A736C	1						.						105.0	112.0	109.0					1																	212798955		2203	4300	6503	210865578	SO:0001583	missense	149647	exon1				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.736A>C	1.37:g.212798955A>C	ENSP00000294829:p.Asn246His		210865578	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	A	3.848	-0.032474	0.07543	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03386	3.95	4.12	-5.71	0.02413	.	3.363500	0.01189	N	0.007282	T	0.00845	0.0028	N	0.00260	-1.75	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46119	-0.9214	10	0.02654	T	1	1.4717	4.4207	0.11479	0.5143:0.1693:0.0:0.3165	.	246	Q8IYT1	FA71A_HUMAN	H	246;21	ENSP00000294829:N246H	ENSP00000294829:N246H	N	+	1	0	FAM71A	210865578	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.467000	0.06664	-0.947000	0.03673	-0.232000	0.12228	AAT		0.527	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
EIF4G3	8672	broad.mit.edu	37	1	21268658	21268658	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21268658A>G	ENST00000264211.8	-	8	1015	c.821T>C	c.(820-822)gTt>gCt	p.V274A	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000602326.1_Missense_Mutation_p.V280A|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V280A|EIF4G3_ENST00000356916.3_Missense_Mutation_p.V285A|EIF4G3_ENST00000400422.1_Missense_Mutation_p.V274A|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374927.4_Missense_Mutation_p.V274A|EIF4G3_ENST00000536266.1_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	274					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.V280A(1)|p.V274A(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACTTCGAGCAACAGAAGAAAC	0.463																																					p.V274A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T821C	1						.						138.0	127.0	131.0					1																	21268658		2203	4300	6503	21141245	SO:0001583	missense	8672	exon9			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.821T>C	1.37:g.21268658A>G	ENSP00000264211:p.Val274Ala		21141245	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561877	0.27915	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.96	4.83	0.62350	.	1.086740	0.06961	N	0.816444	T	0.10680	0.0261	N	0.08118	0	0.09310	N	0.99999	B;B;B;B;B	0.30605	0.001;0.043;0.287;0.011;0.002	B;B;B;B;B	0.27380	0.007;0.016;0.079;0.009;0.058	T	0.10870	-1.0611	10	0.09084	T	0.74	0.0323	9.2169	0.37353	0.9162:0.0:0.0838:0.0	.	274;469;400;280;274	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	A	274;470;274;280;400;274;285	ENSP00000264211:V274A;ENSP00000383274:V274A;ENSP00000364073:V280A;ENSP00000364062:V274A	ENSP00000264211:V274A	V	-	2	0	EIF4G3	21141245	0.002000	0.14202	0.930000	0.37139	0.577000	0.36160	1.194000	0.32174	2.285000	0.76669	0.533000	0.62120	GTT		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
FLVCR1	28982	broad.mit.edu	37	1	213032521	213032521	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:213032521C>A	ENST00000366971.4	+	1	925	c.727C>A	c.(727-729)Ctg>Atg	p.L243M	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	243					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)	p.L243M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CACCGCCGTGCTGGGCAATCA	0.557																																					p.L243M	Esophageal Squamous(199;2235 2952 19233 26256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C727A	1						.						69.0	73.0	72.0					1																	213032521		2203	4300	6503	211099144	SO:0001583	missense	28982	exon1			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.727C>A	1.37:g.213032521C>A	ENSP00000355938:p.Leu243Met		211099144	NM_014053	Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673768|3.673768	0.67928|0.67928	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|D	.|0.92199	.|-2.99	5.21|5.21	3.33|3.33	0.38152|0.38152	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.92545	.|0.7632	L|L	0.41710|0.41710	1.295|1.295	0.53688|0.53688	D|D	0.999978|0.999978	.|D	.|0.76494	.|0.999	.|D	.|0.72982	.|0.979	.|D	.|0.89340	.|0.3653	.|10	.|0.28530	.|T	.|0.3	-18.0741|-18.0741	10.8263|10.8263	0.46633|0.46633	0.0:0.845:0.0:0.155|0.0:0.845:0.0:0.155	.|.	.|243	.|Q9Y5Y0	.|FLVC1_HUMAN	X|M	88|243	.|ENSP00000355938:L243M	.|ENSP00000355938:L243M	C|L	+|+	3|1	2|2	FLVCR1|FLVCR1	211099144|211099144	0.336000|0.336000	0.24757|0.24757	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.249000|0.249000	0.18216|0.18216	0.568000|0.568000	0.29311|0.29311	0.655000|0.655000	0.94253|0.94253	TGC|CTG		0.557	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053	
RPS6KC1	26750	broad.mit.edu	37	1	213414441	213414441	+	Missense_Mutation	SNP	G	G	A	rs144668404	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:213414441G>A	ENST00000366960.3	+	11	1772	c.1622G>A	c.(1621-1623)gGt>gAt	p.G541D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G529D|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G244D|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G329D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	541					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G541D(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAAGGGAATGGTGTTGATACA	0.448													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20495	0.0		0.0	False		,,,				2504	0.0				p.G541D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622A	1						.	G	ASP/GLY,ASP/GLY	4,4402	8.1+/-20.4	0,4,2199	42.0	42.0	42.0		1586,1622	0.2	0.0	1	dbSNP_134	42	0,8600		0,0,4300	yes	missense,missense	RPS6KC1	NM_001136138.1,NM_012424.3	94,94	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	529/1055,541/1067	213414441	4,13002	2203	4300	6503	211481064	SO:0001583	missense	26750	exon11			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1622G>A	1.37:g.213414441G>A	ENSP00000355927:p.Gly541Asp		211481064	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	1.089	-0.664583	0.03428	9.08E-4	0.0	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.38077	1.56;1.58;1.58;1.16	4.71	0.236	0.15471	.	0.816078	0.11293	N	0.579068	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.17899	-1.0354	10	0.38643	T	0.18	-21.276	4.7296	0.12957	0.31:0.1535:0.5365:0.0	.	329;541;529	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	D	329;541;529;244	ENSP00000442306:G329D;ENSP00000355927:G541D;ENSP00000355926:G529D;ENSP00000439282:G244D	ENSP00000355926:G529D	G	+	2	0	RPS6KC1	211481064	0.394000	0.25246	0.000000	0.03702	0.603000	0.37013	0.326000	0.19646	-0.274000	0.09232	-0.378000	0.06908	GGT		0.448	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
RPS6KC1	26750	broad.mit.edu	37	1	213414619	213414619	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:213414619C>A	ENST00000366960.3	+	11	1950	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.F588L|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.F303L|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.F388L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	600					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.F600L(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CCATGGAATTCTTTAGGATAG	0.408																																					p.F600L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1800A	1						.						42.0	45.0	44.0					1																	213414619		2203	4299	6502	211481242	SO:0001583	missense	26750	exon11			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1800C>A	1.37:g.213414619C>A	ENSP00000355927:p.Phe600Leu		211481242	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721258	0.15372	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.43688	1.31;1.37;1.38;0.94	5.39	3.54	0.40534	.	0.101101	0.64402	D	0.000002	T	0.25791	0.0628	L	0.34521	1.04	0.42629	D	0.993371	B;B;B	0.14805	0.011;0.007;0.007	B;B;B	0.19148	0.024;0.012;0.012	T	0.06643	-1.0815	10	0.13470	T	0.59	-18.929	5.0496	0.14501	0.1465:0.6294:0.0:0.2241	.	388;600;588	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	L	388;600;588;303	ENSP00000442306:F388L;ENSP00000355927:F600L;ENSP00000355926:F588L;ENSP00000439282:F303L	ENSP00000355926:F588L	F	+	3	2	RPS6KC1	211481242	0.961000	0.32948	1.000000	0.80357	0.981000	0.71138	0.096000	0.15147	0.665000	0.31066	-0.262000	0.10625	TTC		0.408	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
RPS6KC1	26750	broad.mit.edu	37	1	213415476	213415476	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:213415476T>G	ENST00000366960.3	+	11	2807	c.2657T>G	c.(2656-2658)tTt>tGt	p.F886C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.F874C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.F589C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.F674C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	886	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.F886C(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CATCAGATTTTTGAGGACCTT	0.433																																					p.F886C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2657G	1						.						96.0	100.0	99.0					1																	213415476		2203	4300	6503	211482099	SO:0001583	missense	26750	exon11			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2657T>G	1.37:g.213415476T>G	ENSP00000355927:p.Phe886Cys		211482099	NM_012424	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.450842	0.63290	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049386	0.85682	D	0.000000	T	0.80347	0.4606	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.81947	-0.0700	10	0.72032	D	0.01	-33.0577	16.3483	0.83171	0.0:0.0:0.0:1.0	.	674;886;874	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	674;886;874;589	ENSP00000442306:F674C;ENSP00000355927:F886C;ENSP00000355926:F874C;ENSP00000439282:F589C	ENSP00000355926:F874C	F	+	2	0	RPS6KC1	211482099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.303000	0.78871	2.254000	0.74563	0.533000	0.62120	TTT		0.433	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
PTPN14	5784	broad.mit.edu	37	1	214625243	214625243	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214625243C>A	ENST00000366956.5	-	3	443	c.249G>T	c.(247-249)aaG>aaT	p.K83N	PTPN14_ENST00000543945.1_Missense_Mutation_p.K83N	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	83	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.K83N(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCAGATGTTTCTTCAGAGGTT	0.458																																					p.K83N	Colon(92;557 1424 24372 34121 40073)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G249T	1						.						111.0	108.0	109.0					1																	214625243		2203	4300	6503	212691866	SO:0001583	missense	5784	exon3			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.249G>T	1.37:g.214625243C>A	ENSP00000355923:p.Lys83Asn		212691866	NM_005401	Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330754	0.81690	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.77750	-1.12;-1.12	5.45	5.45	0.79879	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86232	0.1638	10	0.72032	D	0.01	.	13.5559	0.61759	0.0:0.9253:0.0:0.0747	.	83	Q15678	PTN14_HUMAN	N	83	ENSP00000355923:K83N;ENSP00000443330:K83N	ENSP00000355923:K83N	K	-	3	2	PTPN14	212691866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.776000	0.68924	2.565000	0.86533	0.555000	0.69702	AAG		0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
CENPF	1063	broad.mit.edu	37	1	214814402	214814402	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214814402G>T	ENST00000366955.3	+	12	2889	c.2721G>T	c.(2719-2721)gaG>gaT	p.E907D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E907D(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGCCCTTGAGAACAAGGAAA	0.393																																					p.E907D	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2721T	1						.						73.0	77.0	76.0					1																	214814402		2203	4300	6503	212881025	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.2721G>T	1.37:g.214814402G>T	ENSP00000355922:p.Glu907Asp		212881025	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551684	0.45487	.	.	ENSG00000117724	ENST00000366955	T	0.04234	3.67	5.19	2.14	0.27477	.	0.216636	0.23232	N	0.050442	T	0.10981	0.0268	.	.	.	0.30602	N	0.760455	D	0.67145	0.996	P	0.60012	0.867	T	0.04593	-1.0940	9	0.30854	T	0.27	.	8.5933	0.33701	0.3298:0.0:0.6702:0.0	.	907	P49454	CENPF_HUMAN	D	907	ENSP00000355922:E907D	ENSP00000355922:E907D	E	+	3	2	CENPF	212881025	0.990000	0.36364	0.995000	0.50966	0.903000	0.53119	0.683000	0.25349	0.622000	0.30249	0.609000	0.83330	GAG		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214815587	214815587	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214815587G>T	ENST00000366955.3	+	12	4074	c.3906G>T	c.(3904-3906)gaG>gaT	p.E1302D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1302D(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTGAATGAGCTAGAGAAAA	0.393																																					p.E1302D	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3906T	1						.						71.0	70.0	71.0					1																	214815587		2203	4300	6503	212882210	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3906G>T	1.37:g.214815587G>T	ENSP00000355922:p.Glu1302Asp		212882210	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135227	0.37728	.	.	ENSG00000117724	ENST00000366955	T	0.23950	1.88	4.77	-1.46	0.08800	.	0.435743	0.16923	N	0.193999	T	0.30039	0.0752	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.58266	0.836	T	0.17137	-1.0379	9	0.28530	T	0.3	.	6.1235	0.20165	0.4391:0.0:0.4364:0.1245	.	1302	P49454	CENPF_HUMAN	D	1302	ENSP00000355922:E1302D	ENSP00000355922:E1302D	E	+	3	2	CENPF	212882210	0.986000	0.35501	0.002000	0.10522	0.763000	0.43281	0.281000	0.18810	-0.170000	0.10816	0.511000	0.50034	GAG		0.393	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214816319	214816319	+	Silent	SNP	G	G	A	rs564882822		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214816319G>A	ENST00000366955.3	+	12	4806	c.4638G>A	c.(4636-4638)gcG>gcA	p.A1546A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1642	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.A1546A(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGGCCCCAGCGAAGGGTGTTG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20317	0.0		0.0	False		,,,				2504	0.0				p.A1546A	Colon(80;575 1284 11000 14801 43496)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4638A	1						.						43.0	46.0	45.0					1																	214816319		2203	4300	6503	212882942	SO:0001819	synonymous_variant	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4638G>A	1.37:g.214816319G>A			212882942	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.493	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214830332	214830332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214830332G>T	ENST00000366955.3	+	18	8710	c.8542G>T	c.(8542-8544)Gaa>Taa	p.E2848*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2944	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E2848*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAACTGAAAGAAACTCTTGA	0.368																																					p.E2848X	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8542T	1						.						81.0	80.0	81.0					1																	214830332		2203	4300	6503	212896955	SO:0001587	stop_gained	1063	exon18			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8542G>T	1.37:g.214830332G>T	ENSP00000355922:p.Glu2848*		212896955	NM_016343	Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	48	14.805713	0.99810	.	.	ENSG00000117724	ENST00000366955	.	.	.	5.23	5.23	0.72850	.	0.000000	0.33938	N	0.004410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.7485	0.69508	0.0:0.1442:0.8558:0.0	.	.	.	.	X	2848	.	ENSP00000355922:E2848X	E	+	1	0	CENPF	212896955	1.000000	0.71417	0.987000	0.45799	0.041000	0.13682	3.675000	0.54605	2.608000	0.88229	0.561000	0.74099	GAA		0.368	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214832361	214832361	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:214832361G>T	ENST00000366955.3	+	19	9299	c.9131G>T	c.(9130-9132)aGa>aTa	p.R3044I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3140	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R3044I(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGTGGCAGCAGATCACAAAAG	0.512											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R3044I	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9131T	1						.						69.0	68.0	68.0					1																	214832361		2203	4300	6503	212898984	SO:0001583	missense	1063	exon19			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9131G>T	1.37:g.214832361G>T	ENSP00000355922:p.Arg3044Ile	2224	212898984	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835030	0.71373	.	.	ENSG00000117724	ENST00000366955	T	0.04603	3.59	5.63	3.75	0.43078	.	0.000000	0.40144	N	0.001177	T	0.12135	0.0295	M	0.63843	1.955	0.42212	D	0.991819	D	0.57899	0.981	P	0.57371	0.819	T	0.00885	-1.1527	10	0.87932	D	0	.	7.3279	0.26566	0.3537:0.0:0.6463:0.0	.	3140	P49454	CENPF_HUMAN	I	3044	ENSP00000355922:R3044I	ENSP00000355922:R3044I	R	+	2	0	CENPF	212898984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.063000	0.49978	1.382000	0.46385	0.655000	0.94253	AGA		0.512	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
KCNK2	3776	broad.mit.edu	37	1	215342568	215342568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215342568G>T	ENST00000444842.2	+	4	652	c.502G>T	c.(502-504)Gaa>Taa	p.E168*	KCNK2_ENST00000391895.2_Nonsense_Mutation_p.E164*|KCNK2_ENST00000391894.2_Nonsense_Mutation_p.E153*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	168					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.E153*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ACCACGCACAGAAGGCGGCAA	0.363																																					p.E164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G490T	1						.						143.0	146.0	145.0					1																	215342568		2203	4300	6503	213409191	SO:0001587	stop_gained	3776	exon4			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.502G>T	1.37:g.215342568G>T	ENSP00000394033:p.Glu168*		213409191	NM_001017424	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Nonsense_Mutation	SNP	ENST00000444842.2	37	CCDS41467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.603176|4.603176	0.87157|0.87157	.|.	.|.	ENSG00000082482|ENSG00000082482	ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122|ENST00000366948	.|.	.|.	.|.	6.16|6.16	5.2|5.2	0.72013|0.72013	.|.	0.178111|.	0.64402|.	D|.	0.000009|.	.|T	.|0.60818	.|0.2298	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71155	.|-0.4675	.|4	0.11182|0.66056	T|D	0.66|0.02	.|.	10.3881|10.3881	0.44152|0.44152	0.0724:0.2191:0.7084:0.0|0.0724:0.2191:0.7084:0.0	.|.	.|.	.|.	.|.	X|H	164;112;153;168;112|124	.|.	ENSP00000375764:E153X|ENSP00000355915:Q124H	E|Q	+|+	1|3	0|2	KCNK2|KCNK2	213409191|213409191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	4.355000|4.355000	0.59424|0.59424	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.363	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217	
KCTD3	51133	broad.mit.edu	37	1	215751367	215751367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215751367G>T	ENST00000259154.4	+	6	634	c.340G>T	c.(340-342)Gaa>Taa	p.E114*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	114					protein homooligomerization (GO:0051260)			p.E114*(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTTATGTGAAGAATTGGAGCG	0.343																																					p.E114X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G340T	1						.						183.0	181.0	182.0					1																	215751367		2203	4300	6503	213817990	SO:0001587	stop_gained	51133	exon6			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.340G>T	1.37:g.215751367G>T	ENSP00000259154:p.Glu114*		213817990	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.492127|5.492127	0.96339|0.96339	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80025	.|0.4548	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77710	.|-0.2486	.|3	0.51188|.	T|.	0.08|.	-34.8986|-34.8986	20.0591|20.0591	0.97667|0.97667	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	114|86	.|.	ENSP00000259154:E114X|.	E|R	+|+	1|2	0|0	KCTD3|KCTD3	213817990|213817990	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.995000|0.995000	0.86356|0.86356	9.404000|9.404000	0.97306|0.97306	2.739000|2.739000	0.93911|0.93911	0.491000|0.491000	0.48974|0.48974	GAA|AGA		0.343	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu	37	1	215812548	215812548	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215812548C>T	ENST00000307340.3	-	69	15387	c.15001G>A	c.(15001-15003)Gaa>Aaa	p.E5001K	USH2A_ENST00000366943.2_Missense_Mutation_p.E5001K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5001					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E5001K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACACTTCCTTCGTCAGTCGTG	0.408										HNSCC(13;0.011)																											p.E5001K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15001A	1						.						194.0	195.0	195.0					1																	215812548		2203	4300	6503	213879171	SO:0001583	missense	7399	exon69			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15001G>A	1.37:g.215812548C>T	ENSP00000305941:p.Glu5001Lys		213879171	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478722	0.04414	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12465	2.69;2.68	5.2	1.24	0.21308	Fibronectin, type III (1);	0.428384	0.17015	U	0.190330	T	0.11623	0.0283	L	0.60455	1.87	0.22354	N	0.999178	B	0.25312	0.123	B	0.12837	0.008	T	0.25984	-1.0116	10	0.26408	T	0.33	.	6.6613	0.23016	0.0:0.6599:0.1332:0.2069	.	5001	O75445	USH2A_HUMAN	K	5001	ENSP00000305941:E5001K;ENSP00000355910:E5001K	ENSP00000305941:E5001K	E	-	1	0	USH2A	213879171	0.052000	0.20516	0.229000	0.23960	0.028000	0.11728	0.310000	0.19356	0.204000	0.20548	-0.121000	0.15023	GAA		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215848533	215848533	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215848533G>T	ENST00000307340.3	-	63	13106	c.12720C>A	c.(12718-12720)atC>atA	p.I4240I	USH2A_ENST00000366943.2_Silent_p.I4240I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4240	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I4240I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCAAGTGTAGATTTTATATT	0.418										HNSCC(13;0.011)																											p.I4240I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12720A	1						.						100.0	95.0	97.0					1																	215848533		2203	4300	6503	213915156	SO:0001819	synonymous_variant	7399	exon63			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12720C>A	1.37:g.215848533G>T			213915156	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215848859	215848859	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215848859G>A	ENST00000307340.3	-	63	12780	c.12394C>T	c.(12394-12396)Ctg>Ttg	p.L4132L	USH2A_ENST00000366943.2_Silent_p.L4132L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4132	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L4132L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGGCCTCCAGGGTCAGTGTG	0.562										HNSCC(13;0.011)																											p.L4132L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12394T	1						.						51.0	51.0	51.0					1																	215848859		2203	4300	6503	213915482	SO:0001819	synonymous_variant	7399	exon63			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12394C>T	1.37:g.215848859G>A			213915482	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.562	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215953270	215953270	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215953270G>A	ENST00000307340.3	-	55	11240	c.10854C>T	c.(10852-10854)ggC>ggT	p.G3618G	USH2A_ENST00000366943.2_Silent_p.G3618G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3618	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G3618G(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTAATGACGCCGTTTGATT	0.517										HNSCC(13;0.011)																											p.G3618G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10854T	1						.						184.0	146.0	159.0					1																	215953270		2203	4300	6503	214019893	SO:0001819	synonymous_variant	7399	exon55			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10854C>T	1.37:g.215953270G>A			214019893	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	215987117	215987117	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:215987117G>T	ENST00000307340.3	-	49	10086	c.9700C>A	c.(9700-9702)Cat>Aat	p.H3234N	USH2A_ENST00000366943.2_Missense_Mutation_p.H3234N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3234					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.H3234N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGCACTGATGATTTGGTTGT	0.443										HNSCC(13;0.011)																											p.H3234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9700A	1						.						136.0	126.0	129.0					1																	215987117		2203	4300	6503	214053740	SO:0001583	missense	7399	exon49			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9700C>A	1.37:g.215987117G>T	ENSP00000305941:p.His3234Asn		214053740	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761478	0.49468	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13538	2.58;2.58	5.8	2.49	0.30216	Fibronectin, type III (2);	0.169432	0.27473	U	0.019210	T	0.18087	0.0434	M	0.66506	2.035	0.09310	N	0.999999	P	0.47106	0.89	B	0.43413	0.419	T	0.08351	-1.0726	10	0.72032	D	0.01	.	11.3589	0.49632	0.2805:0.0:0.7195:0.0	.	3234	O75445	USH2A_HUMAN	N	3234	ENSP00000305941:H3234N;ENSP00000355910:H3234N	ENSP00000305941:H3234N	H	-	1	0	USH2A	214053740	0.860000	0.29831	0.001000	0.08648	0.022000	0.10575	1.308000	0.33528	0.806000	0.34183	-0.229000	0.12294	CAT		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ECE1	1889	broad.mit.edu	37	1	21563331	21563331	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21563331C>T	ENST00000374893.6	-	12	1470	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	ECE1_ENST00000264205.6_Missense_Mutation_p.E463K|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000436918.2_Missense_Mutation_p.E466K|ECE1_ENST00000357071.4_Missense_Mutation_p.E454K|ECE1_ENST00000415912.2_Missense_Mutation_p.E450K	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	466					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.E466*(1)|p.E466K(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGATGATCTCGGTGGCCTGA	0.507																																					p.E450K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1348A	1						.						203.0	196.0	198.0					1																	21563331		2203	4300	6503	21435918	SO:0001583	missense	1889	exon12			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1396G>A	1.37:g.21563331C>T	ENSP00000364028:p.Glu466Lys		21435918	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125803	0.37533	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	5.22	5.22	0.72569	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.145677	0.64402	D	0.000009	T	0.76378	0.3979	L	0.51853	1.615	0.45930	D	0.998766	B;B;B;B;B	0.29481	0.083;0.245;0.135;0.206;0.206	B;B;B;B;B	0.23150	0.044;0.043;0.029;0.026;0.026	T	0.73275	-0.4034	10	0.35671	T	0.21	-37.8026	11.2485	0.49010	0.0:0.9146:0.0:0.0854	.	466;450;466;454;463	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	K	450;454;466;466;463	ENSP00000405088:E450K;ENSP00000349581:E454K;ENSP00000364028:E466K;ENSP00000388439:E466K;ENSP00000264205:E463K	ENSP00000264205:E463K	E	-	1	0	ECE1	21435918	0.997000	0.39634	0.988000	0.46212	0.353000	0.29299	3.472000	0.53114	2.595000	0.87683	0.561000	0.74099	GAG		0.507	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
USH2A	7399	broad.mit.edu	37	1	216251574	216251574	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216251574G>T	ENST00000307340.3	-	27	5815	c.5429C>A	c.(5428-5430)tCt>tAt	p.S1810Y	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1810Y|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1810	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1810Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATATGAAAGAGCCTTCCTT	0.438										HNSCC(13;0.011)																											p.S1810Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5429A	1						.						166.0	169.0	168.0					1																	216251574		2203	4300	6503	214318197	SO:0001583	missense	7399	exon27			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5429C>A	1.37:g.216251574G>T	ENSP00000305941:p.Ser1810Tyr		214318197	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316491	0.81469	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78707	-1.2;-1.2	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	D	0.000644	D	0.83519	0.5272	M	0.68317	2.08	0.20703	N	0.999865	P	0.49253	0.921	P	0.55222	0.771	T	0.75587	-0.3266	10	0.21540	T	0.41	.	18.3099	0.90195	0.0:0.0:1.0:0.0	.	1810	O75445	USH2A_HUMAN	Y	1810	ENSP00000305941:S1810Y;ENSP00000355910:S1810Y	ENSP00000305941:S1810Y	S	-	2	0	USH2A	214318197	1.000000	0.71417	0.006000	0.13384	0.760000	0.43138	5.767000	0.68850	2.338000	0.79540	0.650000	0.86243	TCT		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216348705	216348705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216348705C>A	ENST00000307340.3	-	21	4902	c.4516G>T	c.(4516-4518)Gag>Tag	p.E1506*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.E1506*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.E1506*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1506					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.E1506*(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGATGACTCTCTCCTTTCC	0.443										HNSCC(13;0.011)																											p.E1506X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4516T	1						.						124.0	104.0	111.0					1																	216348705		2203	4300	6503	214415328	SO:0001587	stop_gained	7399	exon21			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4516G>T	1.37:g.216348705C>A	ENSP00000305941:p.Glu1506*		214415328	NM_206933	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	45	11.343749	0.99549	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.49	3.59	0.41128	.	0.729565	0.11606	U	0.547312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.7063	0.51599	0.0:0.8083:0.1238:0.0678	.	.	.	.	X	1506	.	ENSP00000305941:E1506X	E	-	1	0	USH2A	214415328	0.307000	0.24500	0.453000	0.27007	0.588000	0.36517	2.431000	0.44775	0.648000	0.30732	0.544000	0.68410	GAG		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216465643	216465643	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216465643A>G	ENST00000307340.3	-	10	2100	c.1714T>C	c.(1714-1716)Tgt>Cgt	p.C572R	USH2A_ENST00000366942.3_Missense_Mutation_p.C572R|USH2A_ENST00000366943.2_Missense_Mutation_p.C572R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	572	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.C572R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGGTTTACAATTGAAAGCG	0.418										HNSCC(13;0.011)																											p.C572R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1714C	1						.						112.0	104.0	107.0					1																	216465643		2203	4300	6503	214532266	SO:0001583	missense	7399	exon10			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1714T>C	1.37:g.216465643A>G	ENSP00000305941:p.Cys572Arg		214532266	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627086	0.66901	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.95307	-3.67;-3.67;-3.67	4.81	4.81	0.61882	EGF-like, laminin (2);	0.000000	0.46145	U	0.000317	D	0.98239	0.9417	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.99533	1.0961	10	0.87932	D	0	.	14.3867	0.66949	1.0:0.0:0.0:0.0	.	572;572	O75445-2;O75445	.;USH2A_HUMAN	R	572	ENSP00000305941:C572R;ENSP00000355910:C572R;ENSP00000355909:C572R	ENSP00000305941:C572R	C	-	1	0	USH2A	214532266	1.000000	0.71417	0.385000	0.26158	0.880000	0.50808	8.241000	0.89816	1.810000	0.52873	0.383000	0.25322	TGT		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216595308	216595308	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216595308G>T	ENST00000307340.3	-	2	757	c.371C>A	c.(370-372)tCt>tAt	p.S124Y	USH2A_ENST00000366942.3_Missense_Mutation_p.S124Y|USH2A_ENST00000366943.2_Missense_Mutation_p.S124Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	124					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S124Y(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAACTTGCAGAATTGCTATG	0.453										HNSCC(13;0.011)																											p.S124Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371A	1						.						99.0	95.0	96.0					1																	216595308		2203	4300	6503	214661931	SO:0001583	missense	7399	exon2			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.371C>A	1.37:g.216595308G>T	ENSP00000305941:p.Ser124Tyr		214661931	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191486	0.78902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.65364	-0.15;-0.15;-0.15	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);	0.373747	0.19379	U	0.115701	T	0.68970	0.3059	L	0.54323	1.7	0.09310	N	0.999997	P;P	0.43885	0.785;0.82	P;P	0.52189	0.509;0.692	T	0.64550	-0.6381	10	0.72032	D	0.01	.	13.4996	0.61447	0.0749:0.0:0.9251:0.0	.	124;124	O75445-2;O75445	.;USH2A_HUMAN	Y	124	ENSP00000305941:S124Y;ENSP00000355910:S124Y;ENSP00000355909:S124Y	ENSP00000305941:S124Y	S	-	2	0	USH2A	214661931	0.985000	0.35326	0.019000	0.16419	0.687000	0.40016	5.973000	0.70456	2.543000	0.85770	0.591000	0.81541	TCT		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ECE1	1889	broad.mit.edu	37	1	21599382	21599382	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21599382G>A	ENST00000374893.6	-	4	377	c.303C>T	c.(301-303)agC>agT	p.S101S	ECE1_ENST00000264205.6_Silent_p.S98S|ECE1_ENST00000436918.2_Silent_p.S101S|ECE1_ENST00000357071.4_Silent_p.S89S|ECE1_ENST00000415912.2_Silent_p.S85S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	101					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.S101S(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACAAGCTTCGCTCAGGCACA	0.607																																					p.S85S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C255T	1						.						65.0	63.0	63.0					1																	21599382		2203	4300	6503	21471969	SO:0001819	synonymous_variant	1889	exon4			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.303C>T	1.37:g.21599382G>A			21471969	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	CCDS215.1																																																																																				0.607	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
USH2A	7399	broad.mit.edu	37	1	216595573	216595573	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216595573G>T	ENST00000307340.3	-	2	492	c.106C>A	c.(106-108)Ctt>Att	p.L36I	USH2A_ENST00000366942.3_Missense_Mutation_p.L36I|USH2A_ENST00000366943.2_Missense_Mutation_p.L36I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	36					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L36I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGGGAAAAGACCTCGTGAC	0.463										HNSCC(13;0.011)																											p.L36I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C106A	1						.						81.0	85.0	84.0					1																	216595573		2203	4300	6503	214662196	SO:0001583	missense	7399	exon2			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.106C>A	1.37:g.216595573G>T	ENSP00000305941:p.Leu36Ile		214662196	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	9.354	1.066352	0.20067	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19938	2.56;2.55;2.11	5.27	3.34	0.38264	.	0.547947	0.13118	U	0.412430	T	0.18383	0.0441	L	0.56769	1.78	0.09310	N	0.999995	B;P	0.35077	0.418;0.483	B;B	0.27076	0.076;0.051	T	0.12656	-1.0539	10	0.19147	T	0.46	.	10.5486	0.45074	0.0727:0.1338:0.7935:0.0	.	36;36	O75445-2;O75445	.;USH2A_HUMAN	I	36	ENSP00000305941:L36I;ENSP00000355910:L36I;ENSP00000355909:L36I	ENSP00000305941:L36I	L	-	1	0	USH2A	214662196	0.998000	0.40836	0.286000	0.24833	0.783000	0.44284	2.448000	0.44926	0.568000	0.29311	0.591000	0.81541	CTT		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ESRRG	2104	broad.mit.edu	37	1	216741392	216741392	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:216741392C>A	ENST00000408911.3	-	4	791	c.638G>T	c.(637-639)aGg>aTg	p.R213M	ESRRG_ENST00000391890.3_Missense_Mutation_p.R190M|ESRRG_ENST00000463665.1_Missense_Mutation_p.R151M|ESRRG_ENST00000359162.2_Missense_Mutation_p.R190M|ESRRG_ENST00000493603.1_Missense_Mutation_p.R190M|ESRRG_ENST00000361525.3_Missense_Mutation_p.R190M|ESRRG_ENST00000366940.2_Missense_Mutation_p.R190M|ESRRG_ENST00000366938.2_Missense_Mutation_p.R190M|ESRRG_ENST00000360012.3_Missense_Mutation_p.R190M|ESRRG_ENST00000361395.2_Missense_Mutation_p.R190M|ESRRG_ENST00000366937.1_Missense_Mutation_p.R218M|ESRRG_ENST00000487276.1_Missense_Mutation_p.R190M|ESRRG_ENST00000493748.1_Missense_Mutation_p.R190M	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	213					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R213M(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGCATCTATCCTGCGCTTGTA	0.522																																					p.R190M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569T	1						.						187.0	155.0	166.0					1																	216741392		2203	4300	6503	214808015	SO:0001583	missense	2104	exon5			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.638G>T	1.37:g.216741392C>A	ENSP00000386171:p.Arg213Met		214808015	NM_206595	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289300	0.80914	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.94280	-3.33;-3.33;-3.37;-3.34;-3.33;-3.33;-3.33;-3.33;-3.33;-3.39;0.45;-3.33;-3.33;-3.17	5.5	5.5	0.81552	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.044496	0.85682	D	0.000000	D	0.96984	0.9015	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.99	D;D;D	0.77004	0.989;0.989;0.962	D	0.97265	0.9907	10	0.72032	D	0.01	.	19.3869	0.94560	0.0:1.0:0.0:0.0	.	151;218;213	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	M	190;190;218;213;190;190;190;190;190;190;151;190;190;190;190	ENSP00000355225:R190M;ENSP00000355907:R190M;ENSP00000355904:R218M;ENSP00000386171:R213M;ENSP00000352077:R190M;ENSP00000354584:R190M;ENSP00000355905:R190M;ENSP00000353108:R190M;ENSP00000419594:R190M;ENSP00000375761:R190M;ENSP00000418629:R151M;ENSP00000419155:R190M;ENSP00000417374:R190M;ENSP00000419514:R190M	ENSP00000346386:R190M	R	-	2	0	ESRRG	214808015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.578000	0.87016	0.650000	0.86243	AGG		0.522	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
SPATA17	128153	broad.mit.edu	37	1	217947761	217947761	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:217947761G>A	ENST00000366933.4	+	7	660	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	202						cytoplasm (GO:0005737)		p.R202Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTAACACACCGAAGACCTAAA	0.438																																					p.R202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	1						.						106.0	100.0	102.0					1																	217947761		2203	4300	6503	216014384	SO:0001583	missense	128153	exon7			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.605G>A	1.37:g.217947761G>A	ENSP00000355900:p.Arg202Gln		216014384	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518481	0.13005	.	.	ENSG00000162814	ENST00000366933	T	0.44482	0.92	4.9	-9.81	0.00487	.	1.471100	0.04379	N	0.360393	T	0.25195	0.0612	N	0.21142	0.635	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.30060	-0.9991	10	0.18710	T	0.47	-7.5571	12.5108	0.56005	0.5995:0.2108:0.1898:0.0	.	202	Q96L03	SPT17_HUMAN	Q	202	ENSP00000355900:R202Q	ENSP00000355900:R202Q	R	+	2	0	SPATA17	216014384	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-3.202000	0.00560	-4.029000	0.00080	-1.008000	0.02478	CGA		0.438	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
TGFB2	7042	broad.mit.edu	37	1	218578555	218578555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:218578555C>T	ENST00000366930.4	+	2	858	c.391C>T	c.(391-393)Cga>Tga	p.R131*	TGFB2_ENST00000366929.4_Nonsense_Mutation_p.R159*	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	131					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R131*(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGAATTGTTCGATTTGACGT	0.418																																					p.R131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C391T	1						.						231.0	223.0	226.0					1																	218578555		2203	4300	6503	216645178	SO:0001587	stop_gained	7042	exon2			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.391C>T	1.37:g.218578555C>T	ENSP00000355897:p.Arg131*		216645178	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Nonsense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	40	8.300258	0.98750	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	.	.	.	5.09	2.99	0.34606	.	0.292022	0.31936	N	0.006822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2887	0.54807	0.4335:0.5665:0.0:0.0	.	.	.	.	X	131;159	.	ENSP00000355896:R159X	R	+	1	2	TGFB2	216645178	0.983000	0.35010	0.996000	0.52242	0.940000	0.58332	2.945000	0.49043	1.096000	0.41439	0.650000	0.86243	CGA		0.418	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
TGFB2	7042	broad.mit.edu	37	1	218607427	218607427	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:218607427C>A	ENST00000366930.4	+	3	981	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	TGFB2_ENST00000366929.4_Missense_Mutation_p.L200I	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	172					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L172I(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CCTCCAGATTCTCAAGTCCAA	0.413																																					p.L172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514A	1						.						207.0	223.0	217.0					1																	218607427		2203	4300	6503	216674050	SO:0001583	missense	7042	exon3			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.514C>A	1.37:g.218607427C>A	ENSP00000355897:p.Leu172Ile		216674050	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187259	0.78789	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.68181	-0.31;-0.31	5.91	5.91	0.95273	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	L	0.49571	1.57	0.54753	D	0.999987	B;B	0.27013	0.166;0.013	B;B	0.38327	0.271;0.043	T	0.62407	-0.6861	10	0.33940	T	0.23	.	15.3903	0.74739	0.0:0.9319:0.0:0.0681	.	200;172	P61812-2;P61812	.;TGFB2_HUMAN	I	172;200	ENSP00000355897:L172I;ENSP00000355896:L200I	ENSP00000355896:L200I	L	+	1	0	TGFB2	216674050	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.844000	0.39269	2.808000	0.96608	0.655000	0.94253	CTC		0.413	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
RAP1GAP	5909	broad.mit.edu	37	1	21934721	21934721	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21934721G>T	ENST00000374765.4	-	17	1481	c.1281C>A	c.(1279-1281)ttC>ttA	p.F427L	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.F427L|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.F491L|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.F427L|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.F458L	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	427					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.F427L(1)|p.F458L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGACTCAAAGAAGCCGCCGC	0.602																																					p.F427L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1281A	1						.						55.0	59.0	58.0					1																	21934721		2203	4300	6503	21807308	SO:0001583	missense	5909	exon17			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1281C>A	1.37:g.21934721G>T	ENSP00000363897:p.Phe427Leu		21807308	NM_002885	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510539	0.85389	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.89343	-2.5;-2.47;-2.46;-2.46	4.67	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.90566	0.7043	L	0.41906	1.305	0.58432	D	0.999997	D;P;P;P	0.76494	0.999;0.685;0.603;0.685	D;B;B;B	0.85130	0.997;0.193;0.283;0.193	D	0.89270	0.3604	10	0.48119	T	0.1	-38.9989	10.4411	0.44466	0.0981:0.0:0.9019:0.0	.	427;427;457;427	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	L	491;458;427;427;457;427	ENSP00000290101:F491L;ENSP00000363893:F458L;ENSP00000441661:F427L;ENSP00000363897:F427L	ENSP00000290101:F491L	F	-	3	2	RAP1GAP	21807308	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	5.354000	0.66040	0.940000	0.37473	0.462000	0.41574	TTC		0.602	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	
RAP1GAP	5909	broad.mit.edu	37	1	21935410	21935410	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:21935410A>C	ENST00000374765.4	-	16	1291	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.F364C|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.F428C|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.F364C|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.F395C	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	364	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)	p.F364C(1)|p.F395C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGTCAGCAAAAATTCCTGGAA	0.522																																					p.F364C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1091G	1						.						161.0	148.0	152.0					1																	21935410		2203	4300	6503	21807997	SO:0001583	missense	5909	exon16			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1091T>G	1.37:g.21935410A>C	ENSP00000363897:p.Phe364Cys		21807997	NM_002885	J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	CCDS218.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528372	0.85706	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.28	5.28	0.74379	Rap/ran-GAP (2);	0.054423	0.85682	D	0.000000	D	0.98748	0.9579	H	0.97465	4.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.966;0.969;0.989;0.981	D	0.99478	1.0947	10	0.87932	D	0	-2.7611	13.153	0.59500	1.0:0.0:0.0:0.0	.	364;364;394;364	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	C	428;395;364;364;394;364	ENSP00000290101:F428C;ENSP00000363893:F395C;ENSP00000441661:F364C;ENSP00000363897:F364C	ENSP00000290101:F428C	F	-	2	0	RAP1GAP	21807997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.358000	0.79466	2.012000	0.59069	0.496000	0.49642	TTT		0.522	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885	
TGFB2	7042	broad.mit.edu	37	1	218614675	218614675	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:218614675A>G	ENST00000366930.4	+	7	1683	c.1216A>G	c.(1216-1218)Atg>Gtg	p.M406V	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.M434V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	406					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.M406V(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTCTAATATGATTGTAAA	0.388																																					p.M406V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1216G	1						.						96.0	93.0	94.0					1																	218614675		2203	4300	6503	216681298	SO:0001583	missense	7042	exon7			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1216A>G	1.37:g.218614675A>G	ENSP00000355897:p.Met406Val		216681298	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831509	0.71258	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74526	-0.85;-0.85	5.91	5.91	0.95273	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89846	0.6833	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92352	0.5890	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	434;406	P61812-2;P61812	.;TGFB2_HUMAN	V	406;434	ENSP00000355897:M406V;ENSP00000355896:M434V	ENSP00000355896:M434V	M	+	1	0	TGFB2	216681298	1.000000	0.71417	0.930000	0.37139	0.979000	0.70002	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	ATG		0.388	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
EPRS	2058	broad.mit.edu	37	1	220142238	220142238	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:220142238G>T	ENST00000366923.3	-	32	4718	c.4449C>A	c.(4447-4449)ttC>ttA	p.F1483L	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1483	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.F1483L(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AGAGTGGTTTGAAGGGGATGC	0.458																																					p.F1483L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4449A	1						.						108.0	103.0	105.0					1																	220142238		2203	4300	6503	218208861	SO:0001583	missense	2058	exon32			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4449C>A	1.37:g.220142238G>T	ENSP00000355890:p.Phe1483Leu		218208861	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206901	0.95033	.	.	ENSG00000136628	ENST00000366923	T	0.08008	3.14	5.66	5.66	0.87406	Prolyl-tRNA synthetase, class II, C-terminal (3);Prolyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.62088	1.915	0.80722	D	1	P	0.49447	0.924	P	0.50754	0.649	T	0.00067	-1.2143	10	0.46703	T	0.11	-16.6413	19.7525	0.96273	0.0:0.0:1.0:0.0	.	1483	P07814	SYEP_HUMAN	L	1483	ENSP00000355890:F1483L	ENSP00000355890:F1483L	F	-	3	2	EPRS	218208861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.782000	0.68973	2.669000	0.90835	0.591000	0.81541	TTC		0.458	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
MARK1	4139	broad.mit.edu	37	1	220808816	220808816	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:220808816G>T	ENST00000366917.4	+	12	1487	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	MARK1_ENST00000366918.4_Silent_p.L385L|MARK1_ENST00000402574.1_Silent_p.L272L					MAP/microtubule affinity-regulating kinase 1									p.L407L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCTCACCTGAAGGTCCAGA	0.488																																					p.L407L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1221T	1						.						81.0	76.0	77.0					1																	220808816		2203	4300	6503	218875439	SO:0001819	synonymous_variant	4139	exon12			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1221G>T	1.37:g.220808816G>T			218875439	NM_018650		Silent	SNP	ENST00000366917.4	37	CCDS31029.2																																																																																				0.488	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
MARK1	4139	broad.mit.edu	37	1	220826690	220826690	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:220826690C>T	ENST00000366917.4	+	16	2250	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	MARK1_ENST00000366918.4_Missense_Mutation_p.R640C|MARK1_ENST00000402574.1_Missense_Mutation_p.R527C					MAP/microtubule affinity-regulating kinase 1									p.R662C(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CAAATTTGTTCGCAGGTCAGT	0.373																																					p.R662C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1984T	1						.						56.0	58.0	58.0					1																	220826690		2203	4300	6503	218893313	SO:0001583	missense	4139	exon16			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1984C>T	1.37:g.220826690C>T	ENSP00000355884:p.Arg662Cys		218893313	NM_018650		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	31	5.079435	0.94050	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.57595	0.95;0.95;0.39	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.87827	2.91	0.49687	D	0.999813	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.97;0.961;0.985;0.988	T	0.81739	-0.0795	10	0.87932	D	0	.	19.0367	0.92982	0.0:1.0:0.0:0.0	.	662;527;662;640	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	C	527;640;662	ENSP00000386017:R527C;ENSP00000355885:R640C;ENSP00000355884:R662C	ENSP00000355884:R662C	R	+	1	0	MARK1	218893313	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	7.578000	0.82498	2.506000	0.84524	0.462000	0.41574	CGC		0.373	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
HLX	3142	broad.mit.edu	37	1	221054679	221054679	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:221054679A>C	ENST00000366903.6	+	2	2237	c.736A>C	c.(736-738)Aat>Cat	p.N246H	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	246					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.N246H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GAACCCAAGAAATTCAGTTCA	0.522																																					p.N246H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A736C	1						.						86.0	86.0	86.0					1																	221054679		2203	4300	6503	219121302	SO:0001583	missense	3142	exon2			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.736A>C	1.37:g.221054679A>C	ENSP00000355870:p.Asn246His		219121302	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685670	0.47991	.	.	ENSG00000136630	ENST00000366903	T	0.35605	1.3	5.82	5.82	0.92795	.	0.177095	0.36972	N	0.002311	T	0.22166	0.0534	N	0.08118	0	0.80722	D	1	B	0.17852	0.024	B	0.10450	0.005	T	0.05716	-1.0868	10	0.30854	T	0.27	-15.5678	15.8434	0.78868	1.0:0.0:0.0:0.0	.	246	Q14774	HLX_HUMAN	H	246	ENSP00000355870:N246H	ENSP00000355870:N246H	N	+	1	0	HLX	219121302	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	6.467000	0.73547	2.224000	0.72417	0.459000	0.35465	AAT		0.522	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
LDLRAD2	401944	broad.mit.edu	37	1	22139002	22139002	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22139002G>A	ENST00000344642.2	+	1	245	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.A20T	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	20						integral component of membrane (GO:0016021)		p.A20T(1)		endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGGGGCAGCCGCCCTGACTGC	0.582																																					p.A20T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	1						.						42.0	42.0	42.0					1																	22139002		2203	4300	6503	22011589	SO:0001583	missense	401944	exon1			AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.58G>A	1.37:g.22139002G>A	ENSP00000340988:p.Ala20Thr		22011589	NM_001013693	B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247836	0.22880	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.41758	0.99;0.99	4.43	-2.16	0.07080	.	1.211050	0.06262	N	0.694141	T	0.18964	0.0455	N	0.04508	-0.205	0.09310	N	1	B	0.24533	0.105	B	0.12837	0.008	T	0.20706	-1.0267	10	0.18710	T	0.47	-0.0152	9.2999	0.37838	0.5703:0.0:0.4297:0.0	.	20	Q5SZI1	LRAD2_HUMAN	T	20	ENSP00000340988:A20T;ENSP00000444097:A20T	ENSP00000340988:A20T	A	+	1	0	LDLRAD2	22011589	0.000000	0.05858	0.000000	0.03702	0.493000	0.33554	-0.048000	0.11944	-0.399000	0.07668	-0.262000	0.10625	GCC		0.582	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693	
HLX	3142	broad.mit.edu	37	1	221055525	221055525	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:221055525G>A	ENST00000366903.6	+	3	2293	c.792G>A	c.(790-792)acG>acA	p.T264T	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_Silent_p.T50T	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	264					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T264T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGTGCTCACGAAGGACACCA	0.577																																					p.T264T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G792A	1						.						51.0	42.0	45.0					1																	221055525		2203	4300	6503	219122148	SO:0001819	synonymous_variant	3142	exon3			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.792G>A	1.37:g.221055525G>A			219122148	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	CCDS1527.1																																																																																				0.577	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
MIA3	375056	broad.mit.edu	37	1	222801630	222801630	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:222801630G>T	ENST00000344922.5	+	4	1093	c.1068G>T	c.(1066-1068)caG>caT	p.Q356H	MIA3_ENST00000344507.1_Missense_Mutation_p.Q356H|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.Q356H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	356					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q356H(2)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATAAAGAGCAGAATTCAAATG	0.398																																					p.Q356H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1068T	1						.						79.0	74.0	76.0					1																	222801630		1836	4096	5932	220868253	SO:0001583	missense	375056	exon4				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1068G>T	1.37:g.222801630G>T	ENSP00000340900:p.Gln356His		220868253	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210395	0.39003	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.43294	0.95;0.95;1.46	5.19	3.32	0.38043	.	.	.	.	.	T	0.43590	0.1254	L	0.53249	1.67	0.09310	N	1	P;P	0.50528	0.936;0.845	P;P	0.50378	0.639;0.459	T	0.28427	-1.0044	9	0.49607	T	0.09	.	4.6794	0.12727	0.2434:0.0:0.5679:0.1887	.	356;356	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	H	356	ENSP00000340900:Q356H;ENSP00000340587:Q356H;ENSP00000341348:Q356H	ENSP00000325973:Q356H	Q	+	3	2	MIA3	220868253	0.022000	0.18835	0.005000	0.12908	0.137000	0.21094	0.681000	0.25320	0.683000	0.31428	-0.459000	0.05422	CAG		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MIA3	375056	broad.mit.edu	37	1	222824036	222824036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:222824036G>T	ENST00000344922.5	+	10	3806	c.3781G>T	c.(3781-3783)Gaa>Taa	p.E1261*	MIA3_ENST00000340535.7_Nonsense_Mutation_p.E139*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Nonsense_Mutation_p.E1261*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1261					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E1261*(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTCTCTGATGAAGCAATTAA	0.264																																					p.E1261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3781T	1						.						72.0	81.0	78.0					1																	222824036		1798	4043	5841	220890659	SO:0001587	stop_gained	375056	exon10				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3781G>T	1.37:g.222824036G>T	ENSP00000340900:p.Glu1261*		220890659	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.520083|7.520083	0.98335|0.98335	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	.|.	.|.	.|.	5.39|5.39	4.47|4.47	0.54385|0.54385	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.52906|.	T|.	0.07|.	.|.	12.2719|12.2719	0.54710|0.54710	0.0787:0.0:0.9213:0.0|0.0787:0.0:0.9213:0.0	.|.	.|.	.|.	.|.	X|L	1261;1261;1261;139;139|843	.|.	ENSP00000284471:E139X|.	E|X	+|+	1|2	0|2	MIA3|MIA3	220890659|220890659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.598000|2.598000	0.46223|0.46223	1.391000|1.391000	0.46566|0.46566	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.264	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
MIA3	375056	broad.mit.edu	37	1	222828095	222828095	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:222828095C>A	ENST00000344922.5	+	18	4592	c.4567C>A	c.(4567-4569)Ctg>Atg	p.L1523M	MIA3_ENST00000340535.7_Missense_Mutation_p.L401M|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.L1523M	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1523					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L1523M(1)|p.L1523L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTGGAGATTCTGAATGAGCT	0.393																																					p.L1523M												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C4567A	1						.						106.0	101.0	102.0					1																	222828095		1949	4149	6098	220894718	SO:0001583	missense	375056	exon18				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4567C>A	1.37:g.222828095C>A	ENSP00000340900:p.Leu1523Met		220894718	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492617	0.64074	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.52526	1.09;1.09;0.66	5.46	4.56	0.56223	.	.	.	.	.	T	0.51244	0.1663	N	0.20530	0.585	0.42107	D	0.99136	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.45906	-0.9229	9	0.18710	T	0.47	.	14.5378	0.67973	0.0:0.9291:0.0:0.0709	.	401;1523	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	M	1523;1523;1464;401;401	ENSP00000340900:L1523M;ENSP00000340587:L1523M;ENSP00000345866:L401M	ENSP00000284471:L401M	L	+	1	2	MIA3	220894718	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.517000	0.60503	1.447000	0.47661	0.655000	0.94253	CTG		0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
DISP1	84976	broad.mit.edu	37	1	223177026	223177026	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223177026C>T	ENST00000284476.6	+	8	2451	c.2287C>T	c.(2287-2289)Cgt>Tgt	p.R763C		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	763					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.R763C(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCTTTTGAGCGTTATGATGC	0.483																																					p.R763C												.	.	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.C2287T	1						.						81.0	78.0	79.0					1																	223177026		2203	4300	6503	221243649	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2287C>T	1.37:g.223177026C>T	ENSP00000284476:p.Arg763Cys		221243649	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292790	0.80914	.	.	ENSG00000154309	ENST00000284476	D	0.94000	-3.33	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96198	0.9143	10	0.72032	D	0.01	-31.3579	20.0016	0.97412	0.0:1.0:0.0:0.0	.	763	Q96F81	DISP1_HUMAN	C	763	ENSP00000284476:R763C	ENSP00000284476:R763C	R	+	1	0	DISP1	221243649	1.000000	0.71417	0.671000	0.29857	0.981000	0.71138	7.776000	0.85560	2.802000	0.96397	0.655000	0.94253	CGT		0.483	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
DISP1	84976	broad.mit.edu	37	1	223179126	223179126	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223179126C>A	ENST00000284476.6	+	8	4551	c.4387C>A	c.(4387-4389)Cta>Ata	p.L1463I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1463					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.L1463I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCAAAAGTCCTATTTAATCA	0.438																																					p.L1463I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4387A	1						.						82.0	81.0	81.0					1																	223179126		2203	4300	6503	221245749	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4387C>A	1.37:g.223179126C>A	ENSP00000284476:p.Leu1463Ile		221245749	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138664	0.01742	.	.	ENSG00000154309	ENST00000284476	D	0.91686	-2.89	5.52	-11.0	0.00169	.	1.421560	0.04366	N	0.358270	T	0.76926	0.4056	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66476	-0.5914	10	0.09084	T	0.74	-0.1608	12.7814	0.57479	0.15:0.6697:0.1071:0.0732	.	1463	Q96F81	DISP1_HUMAN	I	1463	ENSP00000284476:L1463I	ENSP00000284476:L1463I	L	+	1	2	DISP1	221245749	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.151000	0.03175	-3.709000	0.00117	-1.139000	0.01908	CTA		0.438	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
TLR5	7100	broad.mit.edu	37	1	223285062	223285062	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223285062G>T	ENST00000540964.1	-	4	1773	c.1312C>A	c.(1312-1314)Cta>Ata	p.L438I	TLR5_ENST00000342210.6_Missense_Mutation_p.L438I			O60602	TLR5_HUMAN	toll-like receptor 5	438			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.L438I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAATATCTAGATTTTCTAGC	0.408																																					p.L438I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1312A	1						.						81.0	83.0	82.0					1																	223285062		2203	4300	6503	221351685	SO:0001583	missense	7100	exon6				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1312C>A	1.37:g.223285062G>T	ENSP00000440643:p.Leu438Ile		221351685	NM_003268	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.997020	0.19043	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.26373	1.74;1.74;1.74	5.59	1.58	0.23477	.	0.225469	0.37906	N	0.001893	T	0.42381	0.1200	M	0.83483	2.645	0.23010	N	0.998434	B	0.32604	0.377	P	0.49665	0.618	T	0.44112	-0.9349	10	0.87932	D	0	.	5.4359	0.16480	0.2769:0.0:0.5829:0.1402	.	438	O60602	TLR5_HUMAN	I	438	ENSP00000440643:L438I;ENSP00000355846:L438I;ENSP00000340089:L438I	ENSP00000340089:L438I	L	-	1	2	TLR5	221351685	0.000000	0.05858	0.051000	0.19133	0.026000	0.11368	-0.573000	0.05874	0.283000	0.22279	-1.069000	0.02264	CTA		0.408	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
SUSD4	55061	broad.mit.edu	37	1	223441994	223441994	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223441994C>T	ENST00000343846.3	-	3	1018	c.385G>A	c.(385-387)Gat>Aat	p.D129N	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Missense_Mutation_p.D58N|SUSD4_ENST00000366878.4_Missense_Mutation_p.D129N|SUSD4_ENST00000494793.2_Missense_Mutation_p.D129N|SUSD4_ENST00000344029.6_Missense_Mutation_p.D129N|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	129	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.D129N(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATCTCAGCATCTTCGATTTGA	0.393																																					p.D129N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G385A	1						.						191.0	164.0	173.0					1																	223441994		2203	4300	6503	221508617	SO:0001583	missense	55061	exon4			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.385G>A	1.37:g.223441994C>T	ENSP00000344219:p.Asp129Asn		221508617	NM_001037175	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094065	0.56075	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029	T;T;T	0.61627	0.09;0.09;0.09	5.91	5.91	0.95273	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000130	T	0.66799	0.2826	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.993;0.991;0.999	T	0.56786	-0.7921	10	0.10636	T	0.68	-19.2668	19.2811	0.94053	0.0:1.0:0.0:0.0	.	58;129;129	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	N	129;129;58;129;129	ENSP00000344219:D129N;ENSP00000355843:D129N;ENSP00000339926:D129N	ENSP00000271787:D129N	D	-	1	0	SUSD4	221508617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.924000	0.70054	2.802000	0.96397	0.650000	0.86243	GAT		0.393	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982	
CCDC185	164127	broad.mit.edu	37	1	223568657	223568657	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223568657C>T	ENST00000366875.3	+	1	1943	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		614								p.L614F(1)|p.H393Y(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGAGGCCCAGCTCCGTGCCTG	0.557																																					p.L614F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1840T	1						.						44.0	44.0	44.0					1																	223568657		2203	4298	6501	221635280	SO:0001583	missense	164127	exon1																														ENST00000366875.3:c.1840C>T	1.37:g.223568657C>T	ENSP00000355840:p.Leu614Phe		221635280	NM_152610	Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383146	0.42207	.	.	ENSG00000178395	ENST00000366875	T	0.29142	1.58	5.35	1.24	0.21308	.	.	.	.	.	T	0.11879	0.0289	N	0.12182	0.205	0.37108	D	0.900212	B	0.32031	0.352	B	0.27262	0.078	T	0.18681	-1.0329	9	0.21014	T	0.42	.	2.431	0.04471	0.134:0.4089:0.2915:0.1656	.	614	Q8N715	CA065_HUMAN	F	614	ENSP00000355840:L614F	ENSP00000355840:L614F	L	+	1	0	C1orf65	221635280	0.000000	0.05858	0.227000	0.23927	0.232000	0.25224	-0.064000	0.11636	0.219000	0.20840	0.655000	0.94253	CTC		0.557	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
CAPN2	824	broad.mit.edu	37	1	223934750	223934750	+	Silent	SNP	C	C	T	rs139316104		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223934750C>T	ENST00000295006.5	+	5	921	c.612C>T	c.(610-612)ttC>ttT	p.F204F	CAPN2_ENST00000433674.2_Silent_p.F126F	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	204	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.F204F(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTGAGGGCTTCGAAGACTTCA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18452	0.0		0.001	False		,,,				2504	0.0				p.F204F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C612T	1						.	C	,	0,4406		0,0,2203	124.0	118.0	120.0		378,612	-4.9	1.0	1	dbSNP_134	120	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	CAPN2	NM_001146068.1,NM_001748.4	,	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	,	126/623,204/701	223934750	8,12998	2203	4300	6503	222001373	SO:0001819	synonymous_variant	824	exon5			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.612C>T	1.37:g.223934750C>T			222001373	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	CCDS31035.1																																																																																				0.532	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
CELA3A	10136	broad.mit.edu	37	1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A	rs533686702		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22333423G>A	ENST00000290122.3	+	5	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.V139I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGAGATGCCGTCCAGCTCGC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17525	0.0		0.0	False		,,,				2504	0.0				p.V139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	1						.						119.0	104.0	109.0					1																	22333423		2199	4300	6499	22206010	SO:0001583	missense	10136	exon5			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.415G>A	1.37:g.22333423G>A	ENSP00000290122:p.Val139Ile		22206010	NM_005747	B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723327	0.15439	.	.	ENSG00000142789	ENST00000290122;ENST00000374661	D	0.90844	-2.74	3.83	3.83	0.44106	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88862	0.6552	N	0.13299	0.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84607	0.0676	9	0.11182	T	0.66	-73.4051	13.3543	0.60619	0.0:0.0:1.0:0.0	.	139	P09093	CEL3A_HUMAN	I	139;155	ENSP00000290122:V139I	ENSP00000290122:V139I	V	+	1	0	CELA3A	22206010	1.000000	0.71417	0.775000	0.31657	0.129000	0.20672	3.026000	0.49689	1.958000	0.56883	0.400000	0.26472	GTC		0.627	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747	
TP53BP2	7159	broad.mit.edu	37	1	223968574	223968574	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:223968574C>A	ENST00000343537.7	-	18	3677	c.3386G>T	c.(3385-3387)aGa>aTa	p.R1129I	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R362I|TP53BP2_ENST00000391878.2_Missense_Mutation_p.R1000I	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	1123					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)	p.R1000I(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCTCCTTTGTCTTGGTTTAAT	0.303																																					p.R1129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3386T	1						.						91.0	92.0	92.0					1																	223968574		2203	4300	6503	222035197	SO:0001583	missense	7159	exon18			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3386G>T	1.37:g.223968574C>A	ENSP00000341957:p.Arg1129Ile		222035197	NM_001031685	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353193	0.95830	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.60424	0.19;0.37;0.37	5.48	5.48	0.80851	Src homology-3 domain (1);	0.043510	0.85682	D	0.000000	T	0.74756	0.3758	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.76005	-0.3117	10	0.87932	D	0	.	19.7152	0.96115	0.0:1.0:0.0:0.0	.	1129;1123	B4DG66;Q13625	.;ASPP2_HUMAN	I	1000;1129;362	ENSP00000375750:R1000I;ENSP00000341957:R1129I;ENSP00000375751:R362I	ENSP00000341957:R1129I	R	-	2	0	TP53BP2	222035197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	AGA		0.303	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426	
CDC42	998	broad.mit.edu	37	1	22417991	22417991	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22417991G>A	ENST00000344548.3	+	7	808	c.557G>A	c.(556-558)cGc>cAc	p.R186H	CDC42_ENST00000400259.1_Missense_Mutation_p.R186H|CDC42_ENST00000421089.2_Missense_Mutation_p.R228H	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	186					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.R186H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAGAAGAGCCGCAGGTGTGTG	0.443																																					p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	1						.						52.0	56.0	54.0					1																	22417991		2203	4300	6503	22290578	SO:0001583	missense	998	exon6			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.557G>A	1.37:g.22417991G>A	ENSP00000341072:p.Arg186His		22290578	NM_001791	P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	CCDS221.1	.	.	.	.	.	.	.	.	.	.	g	13.57	2.275782	0.40294	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000421089	T;T;T	0.67865	-0.29;-0.29;0.14	5.22	5.22	0.72569	.	0.170674	0.53938	D	0.000050	T	0.64023	0.2561	L	0.54323	1.7	0.58432	D	0.999997	B;B;B;B	0.20261	0.043;0.028;0.043;0.0	B;B;B;B	0.09377	0.003;0.004;0.003;0.0	T	0.62329	-0.6877	10	0.54805	T	0.06	.	17.3462	0.87310	0.0:0.0:1.0:0.0	.	228;231;228;186	E7ETU3;B4E1U9;B4DMH5;P60953	.;.;.;CDC42_HUMAN	H	186;186;228	ENSP00000383118:R186H;ENSP00000341072:R186H;ENSP00000398592:R228H	ENSP00000341072:R186H	R	+	2	0	CDC42	22290578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.622000	0.83099	2.443000	0.82685	0.455000	0.32223	CGC		0.443	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791	
NVL	4931	broad.mit.edu	37	1	224495758	224495758	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:224495758C>A	ENST00000281701.6	-	6	809	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	NVL_ENST00000482491.1_Intron|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Intron|NVL_ENST00000391875.2_Missense_Mutation_p.D78Y|NVL_ENST00000361463.3_Missense_Mutation_p.D78Y|RNU6-1008P_ENST00000384160.1_RNA	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	184						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.D184Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AAAAAACTGTCTTTCTTTACA	0.393																																					p.D184Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550T	1						.						120.0	119.0	119.0					1																	224495758		2203	4300	6503	222562381	SO:0001583	missense	4931	exon6			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.550G>T	1.37:g.224495758C>A	ENSP00000281701:p.Asp184Tyr		222562381	NM_002533	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509398	0.44660	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000361463;ENST00000492281;ENST00000436927	D;D;D	0.95482	-3.51;-3.59;-3.72	5.53	5.53	0.82687	.	0.607085	0.17369	N	0.176729	D	0.93291	0.7862	L	0.27053	0.805	0.26347	N	0.977268	P	0.52842	0.956	P	0.48030	0.564	D	0.88927	0.3370	10	0.72032	D	0.01	-5.3817	15.318	0.74095	0.0:0.8606:0.1394:0.0	.	184	O15381	NVL_HUMAN	Y	184;78;78;89;80	ENSP00000281701:D184Y;ENSP00000375747:D78Y;ENSP00000354779:D78Y	ENSP00000281701:D184Y	D	-	1	0	NVL	222562381	0.892000	0.30473	0.248000	0.24265	0.613000	0.37349	0.896000	0.28377	2.753000	0.94483	0.655000	0.94253	GAC		0.393	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533	
CNIH3	149111	broad.mit.edu	37	1	224868687	224868687	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:224868687G>T	ENST00000272133.3	+	2	991	c.109G>T	c.(109-111)Gat>Tat	p.D37Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	37					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.D37Y(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GTTAAGGACAGATTTTAAGAG	0.493																																					p.D37Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109T	1						.						142.0	138.0	139.0					1																	224868687		2203	4300	6503	222935310	SO:0001583	missense	149111	exon2			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.109G>T	1.37:g.224868687G>T	ENSP00000272133:p.Asp37Tyr		222935310	NM_152495		Missense_Mutation	SNP	ENST00000272133.3	37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979604	0.74360	.	.	ENSG00000143786	ENST00000272133	T	0.72282	-0.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.86301	0.1680	10	0.87932	D	0	0.9572	18.0599	0.89373	0.0:0.0:1.0:0.0	.	37	Q8TBE1	CNIH3_HUMAN	Y	37	ENSP00000272133:D37Y	ENSP00000272133:D37Y	D	+	1	0	CNIH3	222935310	1.000000	0.71417	0.960000	0.40013	0.775000	0.43874	6.690000	0.74567	2.573000	0.86826	0.643000	0.83706	GAT		0.493	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	
CNIH3	149111	broad.mit.edu	37	1	224872519	224872519	+	Missense_Mutation	SNP	G	G	A	rs374139283		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:224872519G>A	ENST00000272133.3	+	3	1054	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	58					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.E58K(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		GAGGAACATCGAGCGCATCTG	0.532																																					p.E58K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	1						.						203.0	163.0	177.0					1																	224872519		2203	4300	6503	222939142	SO:0001583	missense	149111	exon3			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.172G>A	1.37:g.224872519G>A	ENSP00000272133:p.Glu58Lys		222939142	NM_152495		Missense_Mutation	SNP	ENST00000272133.3	37	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909028	0.72868	.	.	ENSG00000143786	ENST00000272133	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	U	0.000000	T	0.61751	0.2372	N	0.22421	0.69	0.49687	D	0.999815	D	0.89917	1.0	D	0.67548	0.952	T	0.62048	-0.6936	9	0.34782	T	0.22	-8.3074	15.9805	0.80105	0.0:0.0:1.0:0.0	.	58	Q8TBE1	CNIH3_HUMAN	K	58	.	ENSP00000272133:E58K	E	+	1	0	CNIH3	222939142	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	6.605000	0.74155	2.063000	0.61619	0.551000	0.68910	GAG		0.532	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	
DNAH14	127602	broad.mit.edu	37	1	225140470	225140470	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:225140470G>T	ENST00000445597.2	+	4	597	c.597G>T	c.(595-597)aaG>aaT	p.K199N	DNAH14_ENST00000366850.3_Missense_Mutation_p.K22N|DNAH14_ENST00000439375.2_Missense_Mutation_p.K22N|DNAH14_ENST00000400952.3_Missense_Mutation_p.K22N|DNAH14_ENST00000430092.1_Missense_Mutation_p.K22N|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000366849.1_Missense_Mutation_p.K22N|DNAH14_ENST00000366848.1_Missense_Mutation_p.K22N			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	199					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.K22N(2)|p.K199N(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGGAAACCAAGACAAAACCAA	0.348																																					p.K22N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G66T	1						.						59.0	60.0	60.0					1																	225140470		1801	4075	5876	223207093	SO:0001583	missense	127602	exon2			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.597G>T	1.37:g.225140470G>T	ENSP00000409472:p.Lys199Asn		223207093	NM_144989	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.803909	0.00611	.	.	ENSG00000185842	ENST00000445597;ENST00000413949;ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	T;T;T;T;T;T;T;T	0.58506	2.36;0.33;0.88;0.99;0.82;0.87;0.99;0.88	3.58	-0.709	0.11237	.	1.252940	0.06010	N	0.649355	T	0.34483	0.0899	.	.	.	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17198	-1.0377	9	0.11794	T	0.64	.	7.3709	0.26800	0.0:0.3887:0.5077:0.1036	.	22;22;22;199	Q0VDD8-4;Q0VDD8-3;Q0VDD8-2;Q0VDD8	.;.;.;DYH14_HUMAN	N	199;22;22;22;22;22;22;22	ENSP00000409472:K199N;ENSP00000412969:K22N;ENSP00000414402:K22N;ENSP00000355815:K22N;ENSP00000383737:K22N;ENSP00000355814:K22N;ENSP00000355813:K22N;ENSP00000392061:K22N	ENSP00000355813:K22N	K	+	3	2	DNAH14	223207093	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.765000	0.04730	-0.111000	0.12001	-1.151000	0.01829	AAG		0.348	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
LBR	3930	broad.mit.edu	37	1	225591070	225591070	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:225591070A>G	ENST00000338179.2	-	14	1908	c.1783T>C	c.(1783-1785)Tac>Cac	p.Y595H	LBR_ENST00000272163.4_Missense_Mutation_p.Y595H	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	595					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.Y595H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCCACGCCGTATTTCTTCTTA	0.423																																					p.Y595H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1783C	1						.						116.0	111.0	113.0					1																	225591070		2203	4300	6503	223657693	SO:0001583	missense	3930	exon14			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1783T>C	1.37:g.225591070A>G	ENSP00000339883:p.Tyr595His		223657693	NM_194442	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331602	0.81690	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.99264	-5.65;-5.65	6.17	6.17	0.99709	Sterol reductase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	M	0.90145	3.09	0.80722	D	1	D	0.64830	0.994	D	0.64595	0.927	D	0.98586	1.0652	10	0.62326	D	0.03	-21.7758	16.8222	0.85835	1.0:0.0:0.0:0.0	.	595	Q14739	LBR_HUMAN	H	595	ENSP00000272163:Y595H;ENSP00000339883:Y595H	ENSP00000272163:Y595H	Y	-	1	0	LBR	223657693	1.000000	0.71417	0.900000	0.35374	0.487000	0.33371	9.189000	0.94928	2.371000	0.80710	0.533000	0.62120	TAC		0.423	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
ENAH	55740	broad.mit.edu	37	1	225686082	225686082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:225686082C>A	ENST00000366844.3	-	14	2156	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*	ENAH_ENST00000284563.6_Nonsense_Mutation_p.E795*|ENAH_ENST00000366843.2_Nonsense_Mutation_p.E548*	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	569	EVH2 block C.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)	p.E569*(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTTGTTAATTCTTTTCTCATT	0.254																																					p.E548X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1642T	1						.						62.0	60.0	60.0					1																	225686082		2202	4291	6493	223752705	SO:0001587	stop_gained	55740	exon13			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1705G>T	1.37:g.225686082C>A	ENSP00000355809:p.Glu569*		223752705	NM_018212	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Nonsense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	C	38	6.845073	0.97881	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0267	20.0185	0.97487	0.0:1.0:0.0:0.0	.	.	.	.	X	569;548;795;510	.	ENSP00000284563:E795X	E	-	1	0	ENAH	223752705	1.000000	0.71417	0.998000	0.56505	0.234000	0.25298	6.711000	0.74675	2.809000	0.96659	0.467000	0.42956	GAA		0.254	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212	
TMEM63A	9725	broad.mit.edu	37	1	226040394	226040394	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226040394C>T	ENST00000366835.3	-	20	2144	c.1874G>A	c.(1873-1875)aGc>aAc	p.S625N		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	625					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.S625N(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACAAGTGATGCTGTAGGCCAC	0.572																																					p.S625N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874A	1						.						185.0	120.0	142.0					1																	226040394		2203	4300	6503	224107017	SO:0001583	missense	9725	exon20				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1874G>A	1.37:g.226040394C>T	ENSP00000355800:p.Ser625Asn		224107017	NM_014698	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300902	0.95601	.	.	ENSG00000196187	ENST00000366835	T	0.43688	0.94	5.27	5.27	0.74061	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78084	-0.2342	10	0.87932	D	0	-42.1077	18.8876	0.92385	0.0:1.0:0.0:0.0	.	625	O94886	TM63A_HUMAN	N	625	ENSP00000355800:S625N	ENSP00000355800:S625N	S	-	2	0	TMEM63A	224107017	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.701000	0.84566	2.459000	0.83118	0.563000	0.77884	AGC		0.572	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	
SDE2	163859	broad.mit.edu	37	1	226173203	226173203	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226173203C>A	ENST00000272091.7	-	7	1174	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	386								p.D374Y(1)									GCCAATAAATCTATAGTTTCC	0.398																																					p.D386Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156T	1						.						68.0	64.0	65.0					1																	226173203		1855	4089	5944	224239826	SO:0001583	missense	163859	exon7			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1156G>T	1.37:g.226173203C>A	ENSP00000272091:p.Asp386Tyr		224239826	NM_152608	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107411	0.77096	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.63744	-0.02;-0.06	5.31	3.42	0.39159	.	0.149237	0.56097	D	0.000024	T	0.80884	0.4709	M	0.90542	3.125	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	D	0.84354	0.0534	10	0.87932	D	0	-23.4396	11.902	0.52688	0.0:0.8562:0.0:0.1438	.	386	Q6IQ49	CA055_HUMAN	Y	386;374;291	ENSP00000272091:D386Y;ENSP00000355782:D291Y	ENSP00000272091:D386Y	D	-	1	0	C1orf55	224239826	1.000000	0.71417	0.113000	0.21522	0.585000	0.36419	4.339000	0.59322	1.240000	0.43803	0.591000	0.81541	GAT		0.398	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608	
SDE2	163859	broad.mit.edu	37	1	226175634	226175634	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226175634G>A	ENST00000272091.7	-	6	1115	c.1097C>T	c.(1096-1098)gCc>gTc	p.A366V		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	366								p.A354V(1)									TTTGGCAACGGCAACGTTTTC	0.463																																					p.A366V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1097T	1						.						159.0	156.0	157.0					1																	226175634		1944	4144	6088	224242257	SO:0001583	missense	163859	exon6			BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1097C>T	1.37:g.226175634G>A	ENSP00000272091:p.Ala366Val		224242257	NM_152608	A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357156	0.41801	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.46451	0.88;0.87	5.72	4.8	0.61643	.	0.435728	0.25981	N	0.027074	T	0.32010	0.0815	L	0.36672	1.1	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.32677	0.15;0.037	T	0.13710	-1.0499	10	0.30854	T	0.27	-1.6115	14.4935	0.67667	0.0:0.1464:0.8536:0.0	.	354;366	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	V	366;354;271	ENSP00000272091:A366V;ENSP00000355782:A271V	ENSP00000272091:A366V	A	-	2	0	C1orf55	224242257	0.093000	0.21703	0.002000	0.10522	0.003000	0.03518	2.466000	0.45084	1.549000	0.49425	0.650000	0.86243	GCC		0.463	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608	
ACBD3	64746	broad.mit.edu	37	1	226349248	226349248	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226349248G>A	ENST00000366812.5	-	4	766	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	238	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.R238W(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TGCTCCAACCGAAGcctttct	0.408																																					p.R238W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712T	1						.						147.0	129.0	135.0					1																	226349248		2202	4300	6502	224415871	SO:0001583	missense	64746	exon4			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.712C>T	1.37:g.226349248G>A	ENSP00000355777:p.Arg238Trp		224415871	NM_022735	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221398	0.79464	.	.	ENSG00000182827	ENST00000366812	T	0.44482	0.92	4.84	4.84	0.62591	.	0.054894	0.85682	D	0.000000	T	0.65954	0.2741	M	0.79805	2.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	T	0.70872	-0.4754	10	0.87932	D	0	-12.1984	15.5056	0.75739	0.0:0.0:1.0:0.0	.	238	Q9H3P7	GCP60_HUMAN	W	238	ENSP00000355777:R238W	ENSP00000355777:R238W	R	-	1	2	ACBD3	224415871	0.992000	0.36948	0.998000	0.56505	0.921000	0.55340	2.423000	0.44705	2.602000	0.87976	0.563000	0.77884	CGG		0.408	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
LIN9	286826	broad.mit.edu	37	1	226453952	226453952	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226453952G>A	ENST00000328205.5	-	9	1491	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	LIN9_ENST00000481685.1_Missense_Mutation_p.R281W|LIN9_ENST00000366801.1_Missense_Mutation_p.R265W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	300					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.R316W(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TAATGTAACCGTGGTGGGGTC	0.343																																					p.R316W	Ovarian(197;1696 2974 11248 14117)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C946T	1						.						67.0	66.0	67.0					1																	226453952		2203	4300	6503	224520575	SO:0001583	missense	286826	exon9			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.946C>T	1.37:g.226453952G>A	ENSP00000329102:p.Arg316Trp		224520575	NM_173083	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012231	0.75046	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.83	5.83	0.93111	.	0.051200	0.85682	D	0.000000	T	0.78679	0.4321	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.928;0.952;0.998	T	0.77456	-0.2581	9	0.52906	T	0.07	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	281;300;450	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	W	276;316;371;265;281;450	.	ENSP00000329102:R316W	R	-	1	2	LIN9	224520575	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.725000	0.68507	2.763000	0.94921	0.561000	0.74099	CGG		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083	
ADCK3	56997	broad.mit.edu	37	1	227152993	227152993	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227152993G>A	ENST00000366779.1	+	8	3241	c.470G>A	c.(469-471)gGc>gAc	p.G157D	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366777.3_Missense_Mutation_p.G157D|ADCK3_ENST00000366778.1_Missense_Mutation_p.G105D			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	157					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TCTGCCATGGGCTTTCAGCGA	0.632																																					p.G157D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470A	1						.						38.0	42.0	41.0					1																	227152993		2202	4300	6502	225219616	SO:0001583	missense	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.470G>A	1.37:g.227152993G>A	ENSP00000355741:p.Gly157Asp		225219616	NM_020247	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589789	0.46214	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	T;T;T;T;T	0.75260	-0.64;-0.64;-0.64;-0.81;-0.92	5.77	4.83	0.62350	.	0.915258	0.09604	N	0.779861	T	0.70185	0.3195	L	0.56769	1.78	0.36921	D	0.891394	B	0.22983	0.078	B	0.18263	0.021	T	0.69243	-0.5196	10	0.56958	D	0.05	-11.3085	8.7547	0.34639	0.0767:0.0:0.7722:0.151	.	157	Q8NI60	ADCK3_HUMAN	D	157;105;157;82;2;108	ENSP00000355741:G157D;ENSP00000355740:G105D;ENSP00000355739:G157D;ENSP00000355738:G82D;ENSP00000355737:G2D	ENSP00000355737:G2D	G	+	2	0	ADCK3	225219616	0.022000	0.18835	0.099000	0.21106	0.079000	0.17450	1.004000	0.29822	2.740000	0.93945	0.557000	0.71058	GGC		0.632	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	
CDC42BPA	8476	broad.mit.edu	37	1	227279657	227279657	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227279657T>C	ENST00000366769.3	-	16	3576	c.2285A>G	c.(2284-2286)aAa>aGa	p.K762R	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.K762R|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.K762R|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.K681R|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.K762R|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.K762R|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.K762R	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.K681R(1)|p.K762R(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATATTGTTGTTTGAACTCACT	0.303																																					p.K681R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2042G	1						.						186.0	175.0	179.0					1																	227279657		2200	4297	6497	225346280	SO:0001583	missense	8476	exon15			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2285A>G	1.37:g.227279657T>C	ENSP00000355731:p.Lys762Arg		225346280	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046247	0.75846	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.67698	-0.21;-0.28;-0.22;-0.22;-0.21;-0.18;-0.2	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	L	0.43152	1.355	0.47737	D	0.999501	D;B;D;B;B	0.76494	0.999;0.335;0.998;0.096;0.044	D;B;D;B;B	0.85130	0.996;0.19;0.997;0.073;0.061	T	0.69285	-0.5185	10	0.17369	T	0.5	.	15.1634	0.72801	0.0:0.0:0.0:1.0	.	762;762;681;762;762	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2	.;.;.;.;.	R	762;681;762;762;762;26;762;762	ENSP00000355731:K762R;ENSP00000355729:K681R;ENSP00000335341:K762R;ENSP00000355728:K762R;ENSP00000355726:K762R;ENSP00000443275:K762R;ENSP00000355727:K762R	ENSP00000335341:K762R	K	-	2	0	CDC42BPA	225346280	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.911000	0.75746	2.053000	0.61076	0.455000	0.32223	AAA		0.303	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
CDC42BPA	8476	broad.mit.edu	37	1	227307536	227307536	+	Missense_Mutation	SNP	G	G	A	rs375379778		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227307536G>A	ENST00000366769.3	-	12	2907	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T539M|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T539M|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T539M|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T539M|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T539M|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T539M	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.T539M(2)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGTTGTAACGTTTTGATTTG	0.303																																					p.T539M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1616T	1						.						120.0	120.0	120.0					1																	227307536		2202	4299	6501	225374159	SO:0001583	missense	8476	exon12			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1616C>T	1.37:g.227307536G>A	ENSP00000355731:p.Thr539Met		225374159	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586441	0.28268	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.67523	-0.22;-0.2;-0.22;-0.22;-0.27;-0.23;-0.22	5.66	1.17	0.20885	.	0.945848	0.08979	N	0.866154	T	0.51346	0.1669	N	0.19112	0.55	0.20764	N	0.999855	B;B;B;B	0.16603	0.003;0.007;0.018;0.001	B;B;B;B	0.17098	0.003;0.011;0.017;0.006	T	0.42899	-0.9424	10	0.45353	T	0.12	.	10.5588	0.45133	0.3565:0.0:0.6434:0.0	.	539;539;539;539	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	M	539	ENSP00000355731:T539M;ENSP00000355729:T539M;ENSP00000335341:T539M;ENSP00000355728:T539M;ENSP00000355726:T539M;ENSP00000443275:T539M;ENSP00000355727:T539M	ENSP00000335341:T539M	T	-	2	0	CDC42BPA	225374159	0.001000	0.12720	0.318000	0.25279	0.966000	0.64601	0.414000	0.21164	0.330000	0.23485	-0.145000	0.13849	ACG		0.303	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
ZNF678	339500	broad.mit.edu	37	1	227842252	227842252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227842252G>T	ENST00000343776.5	+	4	646	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	ZNF678_ENST00000397097.3_Nonsense_Mutation_p.E156*|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	101					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.E101*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TCAATGTATTGAATGTGGCAG	0.358																																					p.E156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G466T	1						.						76.0	81.0	79.0					1																	227842252		2203	4300	6503	225908875	SO:0001587	stop_gained	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.301G>T	1.37:g.227842252G>T	ENSP00000344828:p.Glu101*		225908875	NM_178549	Q8IVQ9	Nonsense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	8.624	0.892199	0.17613	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	.	.	.	1.15	-1.13	0.09775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	5.5152	0.16902	0.3747:0.0:0.6253:0.0	.	.	.	.	X	101;156;156	.	ENSP00000344828:E101X	E	+	1	0	ZNF678	225908875	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	-0.375000	0.07955	-0.216000	0.12614	GAA		0.358	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ZNF678	339500	broad.mit.edu	37	1	227842889	227842889	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227842889G>T	ENST00000343776.5	+	4	1283	c.938G>T	c.(937-939)aGa>aTa	p.R313I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R368I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	313					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.R313I(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CGTCATAAAAGAATTCATACT	0.388																																					p.R368I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1103T	1						.						45.0	50.0	49.0					1																	227842889		2203	4298	6501	225909512	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.938G>T	1.37:g.227842889G>T	ENSP00000344828:p.Arg313Ile		225909512	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	10.03	1.239663	0.22711	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.02446	4.29;4.29	1.62	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	L	0.61036	1.89	0.37593	D	0.920247	P	0.41910	0.764	P	0.51918	0.684	T	0.49351	-0.8949	9	0.33141	T	0.24	.	3.7708	0.08640	0.2008:0.2548:0.5444:0.0	.	313	Q5SXM1	ZN678_HUMAN	I	313;368	ENSP00000344828:R313I;ENSP00000440403:R368I	ENSP00000344828:R313I	R	+	2	0	ZNF678	225909512	0.001000	0.12720	0.022000	0.16811	0.173000	0.22820	1.022000	0.30052	-0.037000	0.13646	0.603000	0.83216	AGA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227843057G>T	ENST00000343776.5	+	4	1451	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R424I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388																																					p.R424I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1271T	1						.						34.0	38.0	36.0					1																	227843057		2199	4295	6494	225909680	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1106G>T	1.37:g.227843057G>T	ENSP00000344828:p.Arg369Ile		225909680	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	7.832	0.720050	0.15372	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.24908	1.83;1.83	1.5	0.462	0.16695	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	L	0.50333	1.59	0.45108	D	0.998124	P	0.40180	0.705	P	0.47346	0.544	T	0.03957	-1.0989	9	0.33141	T	0.24	.	6.2127	0.20638	0.1959:0.0:0.8041:0.0	.	369	Q5SXM1	ZN678_HUMAN	I	369;424	ENSP00000344828:R369I;ENSP00000440403:R424I	ENSP00000344828:R369I	R	+	2	0	ZNF678	225909680	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.192000	0.09587	-0.085000	0.12573	-0.283000	0.09986	AGA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ZNF678	339500	broad.mit.edu	37	1	227843241	227843241	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227843241G>T	ENST00000343776.5	+	4	1635	c.1290G>T	c.(1288-1290)gaG>gaT	p.E430D	ZNF678_ENST00000397097.3_Missense_Mutation_p.E485D|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E430D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATACTGGAGAGAAACCCTACA	0.368																																					p.E485D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1455T	1						.						34.0	39.0	37.0					1																	227843241		2198	4293	6491	225909864	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1290G>T	1.37:g.227843241G>T	ENSP00000344828:p.Glu430Asp		225909864	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	13.25	2.180270	0.38511	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.26810	1.71;1.71	1.63	0.596	0.17496	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36826	0.0981	L	0.43701	1.375	0.28635	N	0.907452	D	0.67145	0.996	D	0.79108	0.992	T	0.19647	-1.0299	9	0.66056	D	0.02	.	6.3896	0.21579	0.1897:0.0:0.8103:0.0	.	430	Q5SXM1	ZN678_HUMAN	D	430;485	ENSP00000344828:E430D;ENSP00000440403:E485D	ENSP00000344828:E430D	E	+	3	2	ZNF678	225909864	1.000000	0.71417	0.094000	0.20943	0.032000	0.12392	2.109000	0.41863	-0.039000	0.13602	-0.208000	0.12717	GAG		0.368	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ZNF678	339500	broad.mit.edu	37	1	227843477	227843477	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227843477G>T	ENST00000343776.5	+	4	1871	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R564I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	509					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.R509I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AAGTATAAGAGAATTTATACT	0.323																																					p.R564I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1691T	1						.						44.0	48.0	46.0					1																	227843477		2201	4295	6496	225910100	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1526G>T	1.37:g.227843477G>T	ENSP00000344828:p.Arg509Ile		225910100	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267535	0.05754	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.32753	1.44;1.44	1.08	-0.225	0.13111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	L	0.51914	1.62	0.38354	D	0.944418	B	0.17667	0.023	B	0.13407	0.009	T	0.05131	-1.0904	9	0.40728	T	0.16	.	6.2192	0.20671	0.0:0.0:0.701:0.299	.	509	Q5SXM1	ZN678_HUMAN	I	509;564	ENSP00000344828:R509I;ENSP00000440403:R564I	ENSP00000344828:R509I	R	+	2	0	ZNF678	225910100	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.682000	0.05185	-0.523000	0.06409	-0.530000	0.04314	AGA		0.323	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
SNAP47	116841	broad.mit.edu	37	1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A	rs183802543		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:227947156G>A	ENST00000366759.4	+	3	1507	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T|SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	365					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A365T(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTTCCCCCGCAGAGAAGAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0				p.A365T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1093A	1						.	G	THR/ALA	0,4406		0,0,2203	115.0	118.0	117.0		1093	1.1	0.0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	365/465	227947156	1,13005	2203	4300	6503	226013779	SO:0001583	missense	116841	exon3			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1093G>A	1.37:g.227947156G>A	ENSP00000355721:p.Ala365Thr		226013779	NM_053052	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	CCDS1562.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.504|5.504	0.277926|0.277926	0.10403|0.10403	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344	T;T;T|.	0.45668|.	0.89;2.2;2.18|.	5.04|5.04	1.08|1.08	0.20341|0.20341	.|.	0.734758|.	0.13883|.	N|.	0.356219|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.33379|.	0.001;0.196;0.41;0.41;0.196|.	B;B;B;B;B|.	0.25140|.	0.005;0.008;0.058;0.049;0.011|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|5	0.14656|.	T|.	0.56|.	-15.4879|-15.4879	7.4981|7.4981	0.27500|0.27500	0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0	.|.	123;365;177;365;123|.	Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|.	.;SNP47_HUMAN;.;.;.|.	T|H	123;365;365|177;356	ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|.	ENSP00000314157:A365T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226013779|226013779	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	0.327000|0.327000	0.19663|0.19663	0.045000|0.045000	0.15804|0.15804	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.517	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052	
OBSCN	84033	broad.mit.edu	37	1	228433136	228433136	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228433136G>T	ENST00000422127.1	+	12	3548	c.3504G>T	c.(3502-3504)aaG>aaT	p.K1168N	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1260N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1168N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1168	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K1168N(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTTTGCGAAGGAGCAGTCAG	0.582																																					p.K1168N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3504T	1						.						72.0	71.0	72.0					1																	228433136		2047	4197	6244	226499759	SO:0001583	missense	84033	exon12			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3504G>T	1.37:g.228433136G>T	ENSP00000409493:p.Lys1168Asn		226499759	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.207	0.406381	0.11754	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.63417	0.36;-0.04	4.2	4.2	0.49525	Immunoglobulin-like (1);	0.068087	0.64402	D	0.000020	T	0.54271	0.1848	N	0.17474	0.49	0.80722	D	1	D;B	0.64830	0.994;0.075	D;B	0.63703	0.917;0.01	T	0.54289	-0.8316	10	0.20519	T	0.43	.	3.5628	0.07889	0.0942:0.2423:0.5115:0.1519	.	1168;1168	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1168	ENSP00000284548:K1168N;ENSP00000409493:K1168N	ENSP00000284548:K1168N	K	+	3	2	OBSCN	226499759	1.000000	0.71417	0.878000	0.34440	0.231000	0.25187	1.109000	0.31135	1.887000	0.54652	0.306000	0.20318	AAG		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228433244	228433244	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228433244G>T	ENST00000422127.1	+	12	3656	c.3612G>T	c.(3610-3612)aaG>aaT	p.K1204N	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1296N|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1204N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1204	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K1204N(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACGGGAAGAAGCTGAGCT	0.597																																					p.K1204N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3612T	1						.						100.0	98.0	99.0					1																	228433244		2091	4209	6300	226499867	SO:0001583	missense	84033	exon12			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3612G>T	1.37:g.228433244G>T	ENSP00000409493:p.Lys1204Asn		226499867	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	9.920	1.211990	0.22289	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68624	-0.34;-0.34	4.63	3.71	0.42584	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.70601	-0.4827	10	0.31617	T	0.26	.	6.9777	0.24686	0.2631:0.0:0.7369:0.0	.	1204;1204	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	1204	ENSP00000284548:K1204N;ENSP00000409493:K1204N	ENSP00000284548:K1204N	K	+	3	2	OBSCN	226499867	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	2.195000	0.42677	2.144000	0.66660	0.306000	0.20318	AAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228476379	228476379	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228476379G>A	ENST00000422127.1	+	38	10173	c.10129G>A	c.(10129-10131)Gcc>Acc	p.A3377T	OBSCN_ENST00000366709.4_Missense_Mutation_p.A496T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3806T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3377T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A496T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A2224T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3377	Ig-like 34.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A3660T(1)|p.A3431T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATAGAAGGGGCCACAGCCAC	0.597																																					p.A3377T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10129A	1						.						77.0	83.0	81.0					1																	228476379		2060	4203	6263	226543002	SO:0001583	missense	84033	exon38			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10129G>A	1.37:g.228476379G>A	ENSP00000409493:p.Ala3377Thr		226543002	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085168	0.36758	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	4.97	-3.07	0.05363	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047850	0.07651	N	0.931844	T	0.39517	0.1081	N	0.13371	0.34	0.09310	N	1	B;B	0.16603	0.009;0.018	B;B	0.21546	0.035;0.006	T	0.19224	-1.0312	10	0.14656	T	0.56	.	1.2792	0.02037	0.3178:0.1023:0.3706:0.2093	.	3377;3377	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	3377;3377;496;496;2224	ENSP00000284548:A3377T;ENSP00000409493:A3377T;ENSP00000355668:A496T;ENSP00000355670:A496T;ENSP00000352613:A2224T	ENSP00000284548:A3377T	A	+	1	0	OBSCN	226543002	0.000000	0.05858	0.102000	0.21198	0.097000	0.18754	-0.689000	0.05144	-0.704000	0.05042	0.491000	0.48974	GCC		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228505603	228505603	+	Silent	SNP	G	G	A	rs565920635		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228505603G>A	ENST00000422127.1	+	53	13904	c.13860G>A	c.(13858-13860)ccG>ccA	p.P4620P	OBSCN_ENST00000366709.4_Silent_p.P1739P|OBSCN_ENST00000570156.2_Silent_p.P5577P|OBSCN_ENST00000284548.11_Silent_p.P4620P|OBSCN_ENST00000366707.4_Silent_p.P2254P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4620					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGAGCCACCGAAGCCTGTGC	0.667													g|||	1	0.000199681	0.0	0.0	5008	,	,		17253	0.0		0.0	False		,,,				2504	0.001				p.P4620P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G13860A	1						.						21.0	25.0	24.0					1																	228505603		2037	4173	6210	226572226	SO:0001819	synonymous_variant	84033	exon53			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13860G>A	1.37:g.228505603G>A			226572226	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228509314	228509314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228509314G>T	ENST00000422127.1	+	55	14816	c.14772G>T	c.(14770-14772)aaG>aaT	p.K4924N	OBSCN_ENST00000366709.4_Missense_Mutation_p.K2043N|OBSCN_ENST00000570156.2_Missense_Mutation_p.K5881N|OBSCN_ENST00000284548.11_Missense_Mutation_p.K4924N|OBSCN_ENST00000366707.4_Missense_Mutation_p.K2558N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4924	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K5506N(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAGCAAGGCAGATGTGC	0.627																																					p.K4924N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14772T	1						.						34.0	39.0	37.0					1																	228509314		2179	4268	6447	226575937	SO:0001583	missense	84033	exon55			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14772G>T	1.37:g.228509314G>T	ENSP00000409493:p.Lys4924Asn		226575937	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799482	0.50208	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.34	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	N	0.20574	0.59	0.39192	D	0.962988	D;D	0.67145	0.996;0.986	P;P	0.60345	0.873;0.799	T	0.68127	-0.5491	10	0.62326	D	0.03	.	8.7351	0.34523	0.2453:0.0:0.7547:0.0	.	4924;4924	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	4924;4924;2558;2043	ENSP00000284548:K4924N;ENSP00000409493:K4924N;ENSP00000355668:K2558N;ENSP00000355670:K2043N	ENSP00000284548:K4924N	K	+	3	2	OBSCN	226575937	1.000000	0.71417	0.912000	0.35992	0.179000	0.23085	2.624000	0.46444	1.236000	0.43740	0.655000	0.94253	AAG		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228538555	228538555	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228538555C>T	ENST00000422127.1	+	77	18374	c.18330C>T	c.(18328-18330)ttC>ttT	p.F6110F	OBSCN_ENST00000366709.4_Silent_p.F3229F|OBSCN_ENST00000570156.2_Silent_p.F7067F|OBSCN_ENST00000284548.11_Silent_p.F6110F|OBSCN_ENST00000366707.4_Silent_p.F3744F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6110	Ig-like 53.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCACGGTTCGTGAACAAGG	0.582																																					p.F6110F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C18330T	1						.						43.0	47.0	46.0					1																	228538555		1932	4136	6068	226605178	SO:0001819	synonymous_variant	84033	exon77			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18330C>T	1.37:g.228538555C>T			226605178	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	7.228	0.598707	0.13939	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.58	2.09	0.27110	.	.	.	.	.	T	0.57388	0.2050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50303	-0.8844	4	.	.	.	.	8.4842	0.33061	0.0:0.2273:0.0:0.7727	.	.	.	.	C	727	.	.	R	+	1	0	OBSCN	226605178	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	0.896000	0.28377	0.428000	0.26173	-0.339000	0.08088	CGT		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZBTB40	9923	broad.mit.edu	37	1	22816775	22816775	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22816775C>A	ENST00000375647.4	+	2	541	c.334C>A	c.(334-336)Ctt>Att	p.L112I	ZBTB40_ENST00000404138.1_Missense_Mutation_p.L112I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.L112I	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	112					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.L112I(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTGCAAAAATCTTCTGACCAG	0.483																																					p.L112I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334A	1						.						86.0	88.0	88.0					1																	22816775		2203	4300	6503	22689362	SO:0001583	missense	9923	exon2			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.334C>A	1.37:g.22816775C>A	ENSP00000364798:p.Leu112Ile		22689362	NM_014870	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104208	0.76983	.	.	ENSG00000184677	ENST00000404138;ENST00000374649;ENST00000375647;ENST00000400239;ENST00000374651	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	4.8	3.87	0.44632	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.43110	D	0.000619	T	0.67050	0.2852	N	0.16862	0.45	0.23838	N	0.996707	D;D	0.61697	0.987;0.99	P;P	0.61070	0.814;0.883	T	0.57911	-0.7729	10	0.34782	T	0.22	-9.7357	11.5063	0.50468	0.0:0.9103:0.0:0.0897	.	112;112	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	I	112	ENSP00000384527:L112I;ENSP00000364798:L112I;ENSP00000383098:L112I;ENSP00000363782:L112I	ENSP00000363780:L112I	L	+	1	0	ZBTB40	22689362	0.998000	0.40836	0.973000	0.42090	0.980000	0.70556	2.479000	0.45197	2.351000	0.79841	0.591000	0.81541	CTT		0.483	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	
OBSCN	84033	broad.mit.edu	37	1	228556554	228556554	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:228556554G>T	ENST00000422127.1	+	89	19943	c.19899G>T	c.(19897-19899)gaG>gaT	p.E6633D	OBSCN_ENST00000570156.2_Missense_Mutation_p.E7590D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4267D	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6633	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E7215D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCCCCCGAGATCATCCAGC	0.582																																					p.E6633D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19899T	1						.						100.0	105.0	104.0					1																	228556554		2004	4171	6175	226623177	SO:0001583	missense	84033	exon89			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19899G>T	1.37:g.228556554G>T	ENSP00000409493:p.Glu6633Asp		226623177	NM_001098623	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.56|14.56	2.572716|2.572716	0.45798|0.45798	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.74737	.|-0.87;-0.87	4.64|4.64	1.48|1.48	0.22813|0.22813	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	D|D	0.88235|0.88235	0.6382|0.6382	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.72075	.|0.976	D|D	0.86000|0.86000	0.1494|0.1494	5|9	.|0.87932	.|D	.|0	.|.	7.0897|7.0897	0.25277|0.25277	0.4874:0.0:0.5126:0.0|0.4874:0.0:0.5126:0.0	.|.	.|6633	.|Q5VST9	.|OBSCN_HUMAN	Y|D	1250|6633;4267	.|ENSP00000409493:E6633D;ENSP00000355668:E4267D	.|ENSP00000355668:E4267D	D|E	+|+	1|3	0|2	OBSCN|OBSCN	226623177|226623177	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.325000|0.325000	0.28411|0.28411	1.893000|1.893000	0.39758|0.39758	0.214000|0.214000	0.20742|0.20742	-1.598000|-1.598000	0.00824|0.00824	GAT|GAG		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ACTA1	58	broad.mit.edu	37	1	229567634	229567634	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229567634C>T	ENST00000366684.3	-	6	926	c.824G>A	c.(823-825)gGc>gAc	p.G275D	ACTA1_ENST00000366683.2_Missense_Mutation_p.G187D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	275					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.G275D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTCGTGAATGCCCGCCGACTC	0.677																																					p.G275D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	1						.						116.0	105.0	109.0					1																	229567634		2203	4300	6503	227634257	SO:0001583	missense	58	exon6			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.824G>A	1.37:g.229567634C>T	ENSP00000355645:p.Gly275Asp		227634257	NM_001100	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352885	0.41700	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.97352	-4.35;-4.35	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.99811	4.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98117	1.0423	10	0.87932	D	0	.	17.2969	0.87172	0.0:1.0:0.0:0.0	.	275	P68133	ACTS_HUMAN	D	275;185;187;240	ENSP00000355645:G275D;ENSP00000355644:G187D	ENSP00000312351:G185D	G	-	2	0	ACTA1	227634257	1.000000	0.71417	0.997000	0.53966	0.374000	0.29953	7.602000	0.82796	2.304000	0.77564	0.563000	0.77884	GGC		0.677	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100	
EPHA8	2046	broad.mit.edu	37	1	22902867	22902867	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22902867G>A	ENST00000166244.3	+	3	389	c.317G>A	c.(316-318)cGc>cAc	p.R106H	EPHA8_ENST00000538803.1_Missense_Mutation_p.R106H|EPHA8_ENST00000374644.4_Missense_Mutation_p.R106H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	106	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R106H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTTACCCTGCGCGACTGCAAC	0.622																																					p.R106H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G317A	1						.						60.0	59.0	59.0					1																	22902867		2203	4300	6503	22775454	SO:0001583	missense	2046	exon3			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.317G>A	1.37:g.22902867G>A	ENSP00000166244:p.Arg106His		22775454	NM_020526	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638064	0.87760	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.05855	3.38;3.38;3.38	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000002	T	0.33440	0.0863	M	0.92317	3.295	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.47381	-0.9122	10	0.87932	D	0	.	15.4668	0.75406	0.0:0.0:1.0:0.0	.	106;106	P29322;P29322-2	EPHA8_HUMAN;.	H	106	ENSP00000166244:R106H;ENSP00000363775:R106H;ENSP00000440274:R106H	ENSP00000166244:R106H	R	+	2	0	EPHA8	22775454	1.000000	0.71417	0.945000	0.38365	0.885000	0.51271	9.657000	0.98554	2.212000	0.71576	0.442000	0.29010	CGC		0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
NUP133	55746	broad.mit.edu	37	1	229634011	229634011	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229634011G>A	ENST00000261396.3	-	6	782	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	NUP133_ENST00000537506.1_Missense_Mutation_p.R215W	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	231					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R231W(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGTATCAACCGAATTAGTTGG	0.398																																					p.R231W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	1						.						72.0	70.0	70.0					1																	229634011		2203	4300	6503	227700634	SO:0001583	missense	55746	exon6				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.691C>T	1.37:g.229634011G>A	ENSP00000261396:p.Arg231Trp		227700634	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444469	0.63178	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.44881	0.91;0.91;0.91	5.71	4.8	0.61643	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.63519	-0.6619	10	0.37606	T	0.19	-11.2303	16.1184	0.81324	0.0:0.0:0.8651:0.1349	.	231	Q8WUM0	NU133_HUMAN	W	231;231;231;215	ENSP00000261396:R231W;ENSP00000355640:R231W;ENSP00000443496:R215W	ENSP00000261396:R231W	R	-	1	2	NUP133	227700634	1.000000	0.71417	0.456000	0.27044	0.598000	0.36846	3.815000	0.55651	1.405000	0.46838	0.650000	0.86243	CGG		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
URB2	9816	broad.mit.edu	37	1	229770932	229770932	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229770932G>T	ENST00000258243.2	+	4	708	c.572G>T	c.(571-573)aGa>aTa	p.R191I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	191						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R191I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTCAACCCAAGACGTGCCTTT	0.607																																					p.R191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572T	1						.						68.0	60.0	62.0					1																	229770932		2203	4300	6503	227837555	SO:0001583	missense	9816	exon4			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.572G>T	1.37:g.229770932G>T	ENSP00000258243:p.Arg191Ile		227837555	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439254	0.43326	.	.	ENSG00000135763	ENST00000258243	T	0.10192	2.9	5.68	2.54	0.30619	.	0.233607	0.47093	D	0.000241	T	0.11067	0.0270	L	0.51422	1.61	0.30927	N	0.727333	P	0.49961	0.93	P	0.44732	0.459	T	0.09185	-1.0686	9	.	.	.	-8.9912	6.2545	0.20865	0.6623:0.0:0.3377:0.0	.	191	Q14146	URB2_HUMAN	I	191	ENSP00000258243:R191I	.	R	+	2	0	URB2	227837555	0.862000	0.29867	0.059000	0.19551	0.775000	0.43874	2.975000	0.49281	0.368000	0.24481	0.650000	0.86243	AGA		0.607	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
URB2	9816	broad.mit.edu	37	1	229771492	229771492	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229771492G>A	ENST00000258243.2	+	4	1268	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	378						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D378N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CATCGCTGCCGACAGAATTCG	0.527																																					p.D378N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1132A	1						.						56.0	56.0	56.0					1																	229771492		2203	4300	6503	227838115	SO:0001583	missense	9816	exon4			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1132G>A	1.37:g.229771492G>A	ENSP00000258243:p.Asp378Asn		227838115	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528408	0.64860	.	.	ENSG00000135763	ENST00000258243	T	0.54279	0.58	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71048	-0.4705	9	.	.	.	-25.0062	19.1348	0.93422	0.0:0.0:1.0:0.0	.	378	Q14146	URB2_HUMAN	N	378	ENSP00000258243:D378N	.	D	+	1	0	URB2	227838115	1.000000	0.71417	0.174000	0.22961	0.056000	0.15407	9.238000	0.95380	2.601000	0.87937	0.650000	0.86243	GAC		0.527	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
URB2	9816	broad.mit.edu	37	1	229771734	229771734	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229771734G>T	ENST00000258243.2	+	4	1510	c.1374G>T	c.(1372-1374)caG>caT	p.Q458H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	458						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q458H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGTCTTCCAGACTTATGCCA	0.547																																					p.Q458H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1374T	1						.						106.0	116.0	113.0					1																	229771734		2203	4300	6503	227838357	SO:0001583	missense	9816	exon4			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1374G>T	1.37:g.229771734G>T	ENSP00000258243:p.Gln458His		227838357	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732017	0.48939	.	.	ENSG00000135763	ENST00000258243	T	0.36157	1.27	5.35	4.44	0.53790	.	0.056903	0.64402	D	0.000001	T	0.31734	0.0806	M	0.66939	2.045	0.53005	D	0.999966	P	0.47106	0.89	B	0.35278	0.199	T	0.17776	-1.0358	9	.	.	.	-21.2738	10.755	0.46232	0.0713:0.1315:0.7971:0.0	.	458	Q14146	URB2_HUMAN	H	458	ENSP00000258243:Q458H	.	Q	+	3	2	URB2	227838357	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.835000	0.39181	1.418000	0.47098	0.650000	0.86243	CAG		0.547	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
EPHA8	2046	broad.mit.edu	37	1	22915867	22915867	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:22915867C>A	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.L495I|EPHA8_ENST00000374644.4_Missense_Mutation_p.L495I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.L495I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTTCATTGCCTTTAGAAAAG	0.547																																					p.L495I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1483A	1						.						39.0	43.0	41.0					1																	22915867		2197	4290	6487	22788454	SO:0001627	intron_variant	2046	exon5			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+168C>A	1.37:g.22915867C>A			22788454	NM_001006943	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Intron	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	6.856	0.527156	0.13066	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01323	5.01;5.01	3.5	-0.845	0.10737	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.17098	0.017	T	0.48246	-0.9052	7	.	.	.	.	4.2198	0.10552	0.161:0.5375:0.0:0.3015	.	495	P29322-2	.	I	495	ENSP00000363775:L495I;ENSP00000440274:L495I	.	L	+	1	0	EPHA8	22788454	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.791000	0.04599	-0.133000	0.11537	0.491000	0.48974	CTT		0.547	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
URB2	9816	broad.mit.edu	37	1	229779337	229779337	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:229779337T>C	ENST00000258243.2	+	5	3828	c.3692T>C	c.(3691-3693)tTc>tCc	p.F1231S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1231						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.F1231S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGAGCCTTGTTCACCCAAATG	0.463																																					p.F1231S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3692C	1						.						164.0	153.0	157.0					1																	229779337		2203	4300	6503	227845960	SO:0001583	missense	9816	exon5			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3692T>C	1.37:g.229779337T>C	ENSP00000258243:p.Phe1231Ser		227845960	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983160	0.34942	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.36	5.36	0.76844	.	0.518798	0.22239	N	0.062703	T	0.24044	0.0582	L	0.27053	0.805	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.11372	-1.0590	9	.	.	.	-11.9915	13.0077	0.58715	0.0:0.0:0.0:1.0	.	1231	Q14146	URB2_HUMAN	S	1231	ENSP00000258243:F1231S	.	F	+	2	0	URB2	227845960	0.407000	0.25352	0.032000	0.17829	0.281000	0.26958	3.527000	0.53517	2.153000	0.67306	0.528000	0.53228	TTC		0.463	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
GALNT2	2590	broad.mit.edu	37	1	230372166	230372166	+	Splice_Site	SNP	C	C	T	rs537078461		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:230372166C>T	ENST00000366672.4	+	5	613	c.541C>T	c.(541-543)Cct>Tct	p.P181S	GALNT2_ENST00000541865.1_Splice_Site_p.P91S|GALNT2_ENST00000543760.1_Splice_Site_p.P143S	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	181	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P181S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAGCAATGATCGTGAGTACTG	0.448																																					p.P181S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C541T	1						.						78.0	76.0	77.0					1																	230372166		2203	4300	6503	228438789	SO:0001630	splice_region_variant	2590	exon5			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.541+1C>T	1.37:g.230372166C>T			228438789	NM_004481	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730859	0.48939	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.61510	0.1;0.1;0.1	5.54	5.54	0.83059	Glycosyl transferase, family 2 (1);	0.290613	0.38217	N	0.001778	T	0.50154	0.1599	L	0.61218	1.895	0.58432	D	0.999999	P;B	0.36616	0.561;0.193	B;B	0.24155	0.051;0.019	T	0.53308	-0.8457	10	0.38643	T	0.18	.	13.9496	0.64109	0.0:0.8476:0.1524:0.0	.	181;143	Q10471;G3V1S6	GALT2_HUMAN;.	S	143;181;91	ENSP00000445017:P143S;ENSP00000355632:P181S;ENSP00000444346:P91S	ENSP00000355632:P181S	P	+	1	0	GALNT2	228438789	0.997000	0.39634	0.999000	0.59377	0.973000	0.67179	1.438000	0.35002	2.607000	0.88179	0.655000	0.94253	CCT		0.448	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481	Missense_Mutation
AGT	183	broad.mit.edu	37	1	230846407	230846407	+	Missense_Mutation	SNP	C	C	A	rs374540090		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:230846407C>A	ENST00000366667.4	-	2	404	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	64					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)	p.D64Y(1)		endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGGTGGGGTCTTTGGGCTTC	0.562																																					p.D64Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190T	1						.	C	TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	95.0	95.0	95.0		190	4.3	0.0	1		95	0,8600		0,0,4300	no	missense	AGT	NM_000029.3	160	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	64/486	230846407	1,13005	2203	4300	6503	228913030	SO:0001583	missense	183	exon2			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.190G>T	1.37:g.230846407C>A	ENSP00000355627:p.Asp64Tyr		228913030	NM_000029	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	9.999	1.232950	0.22626	2.27E-4	0.0	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.88509	-2.39	5.19	4.27	0.50696	Serpin domain (1);	0.452064	0.25222	N	0.032235	D	0.86037	0.5837	L	0.51422	1.61	0.09310	N	1	D;D	0.59357	0.985;0.982	B;P	0.44359	0.321;0.447	T	0.79850	-0.1629	10	0.72032	D	0.01	.	10.4632	0.44592	0.0:0.7914:0.1355:0.0731	.	64;64	B2R5S1;P01019	.;ANGT_HUMAN	Y	64	ENSP00000355627:D64Y	ENSP00000355627:D64Y	D	-	1	0	AGT	228913030	0.003000	0.15002	0.019000	0.16419	0.010000	0.07245	1.237000	0.32695	1.290000	0.44636	0.561000	0.74099	GAC		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029	
TTC13	79573	broad.mit.edu	37	1	231060654	231060654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231060654G>A	ENST00000366661.4	-	14	1661	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	TTC13_ENST00000414259.1_Nonsense_Mutation_p.R499*|TTC13_ENST00000366662.4_Nonsense_Mutation_p.R499*	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	552								p.R552*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCATTCATTCGAACTTTCGAG	0.438																																					p.R552X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1654T	1						.						216.0	176.0	189.0					1																	231060654		2203	4300	6503	229127277	SO:0001587	stop_gained	79573	exon14				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1654C>T	1.37:g.231060654G>A	ENSP00000355621:p.Arg552*		229127277	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Nonsense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	40	8.176742	0.98691	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-29.1504	19.106	0.93294	0.0:0.0:1.0:0.0	.	.	.	.	X	552;499;499	.	ENSP00000355621:R552X	R	-	1	2	TTC13	229127277	1.000000	0.71417	0.960000	0.40013	0.797000	0.45037	9.813000	0.99286	2.576000	0.86940	0.655000	0.94253	CGA		0.438	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
TTC13	79573	broad.mit.edu	37	1	231097001	231097001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231097001G>T	ENST00000366661.4	-	2	327	c.320C>A	c.(319-321)tCa>tAa	p.S107*	TTC13_ENST00000414259.1_Nonsense_Mutation_p.S107*|TTC13_ENST00000366662.4_Nonsense_Mutation_p.S107*	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	107								p.S107*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ACAGGGTGATGATCCCTTGGG	0.423																																					p.S107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C320A	1						.						124.0	114.0	117.0					1																	231097001		2203	4300	6503	229163624	SO:0001587	stop_gained	79573	exon2				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.320C>A	1.37:g.231097001G>T	ENSP00000355621:p.Ser107*		229163624	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Nonsense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.138002|5.138002	0.94517|0.94517	.|.	.|.	ENSG00000143643|ENSG00000143643	ENST00000522821|ENST00000366661;ENST00000366662;ENST00000414259	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.432330	.|0.24985	.|N	.|0.034024	T|.	0.44540|.	0.1298|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39663|.	-0.9603|.	3|.	.|0.02654	.|T	.|1	-13.0404|-13.0404	17.6627|17.6627	0.88196|0.88196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	N|X	96|107	.|.	.|ENSP00000355621:S107X	H|S	-|-	1|2	0|0	TTC13|TTC13	229163624|229163624	1.000000|1.000000	0.71417|0.71417	0.502000|0.502000	0.27614|0.27614	0.840000|0.840000	0.47671|0.47671	4.550000|4.550000	0.60733|0.60733	2.463000|2.463000	0.83235|0.83235	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.423	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
TRIM67	440730	broad.mit.edu	37	1	231342418	231342418	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231342418G>T	ENST00000366653.5	+	7	1701	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	TRIM67_ENST00000444294.3_Missense_Mutation_p.E565D|TRIM67_ENST00000449018.3_Missense_Mutation_p.E505D|TRIM67_ENST00000366652.2_Missense_Mutation_p.E567D			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	567	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.E567D(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TCGGTAAGGAGACTTTGTGTA	0.488																																					p.E567D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1701T	1						.						76.0	81.0	79.0					1																	231342418		2045	4218	6263	229409041	SO:0001583	missense	440730	exon7			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1701G>T	1.37:g.231342418G>T	ENSP00000355613:p.Glu567Asp		229409041	NM_001004342	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997362	0.54147	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	N	0.25957	0.775	0.58432	D	0.999999	B	0.11235	0.004	B	0.23574	0.047	T	0.20140	-1.0284	10	0.35671	T	0.21	.	13.037	0.58877	0.0739:0.0:0.9261:0.0	.	567	Q6ZTA4	TRI67_HUMAN	D	565;567;505;567	ENSP00000412124:E565D;ENSP00000355612:E567D;ENSP00000400163:E505D;ENSP00000355613:E567D	ENSP00000355612:E567D	E	+	3	2	TRIM67	229409041	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.765000	0.62271	2.741000	0.93983	0.655000	0.94253	GAG		0.488	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
TRIM67	440730	broad.mit.edu	37	1	231344821	231344821	+	Missense_Mutation	SNP	G	G	A	rs370765650		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231344821G>A	ENST00000366653.5	+	8	1948	c.1948G>A	c.(1948-1950)Gtg>Atg	p.V650M	TRIM67_ENST00000444294.3_Missense_Mutation_p.V648M|TRIM67_ENST00000449018.3_Missense_Mutation_p.V588M|TRIM67_ENST00000366652.2_Missense_Mutation_p.V650M			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	650	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.V650M(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCCAAGGGCGTGCACTACTG	0.617																																					p.V650M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1948A	1						.	G	MET/VAL	0,4366		0,0,2183	92.0	102.0	99.0		1948	4.8	0.1	1		99	1,8571	1.2+/-3.3	0,1,4285	no	missense	TRIM67	NM_001004342.3	21	0,1,6468	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	650/784	231344821	1,12937	2183	4286	6469	229411444	SO:0001583	missense	440730	exon8			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1948G>A	1.37:g.231344821G>A	ENSP00000355613:p.Val650Met		229411444	NM_001004342	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787675	0.49997	0.0	1.17E-4	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.73	4.82	0.62117	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.509696	0.21287	N	0.077059	T	0.81460	0.4827	M	0.86343	2.81	0.24960	N	0.991739	D	0.63046	0.992	D	0.65773	0.938	T	0.74210	-0.3739	10	0.45353	T	0.12	.	11.2457	0.48996	0.1403:0.0:0.8597:0.0	.	650	Q6ZTA4	TRI67_HUMAN	M	648;650;588;650	ENSP00000412124:V648M;ENSP00000355612:V650M;ENSP00000400163:V588M;ENSP00000355613:V650M	ENSP00000355612:V650M	V	+	1	0	TRIM67	229411444	0.991000	0.36638	0.071000	0.20095	0.139000	0.21198	3.412000	0.52679	1.555000	0.49500	0.655000	0.94253	GTG		0.617	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
GNPAT	8443	broad.mit.edu	37	1	231374790	231374790	+	5'Flank	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231374790G>A	ENST00000366647.4	+	0	0				C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366651.3_Missense_Mutation_p.S88L|GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000318906.2_Missense_Mutation_p.S88L|C1orf131_ENST00000366649.2_Missense_Mutation_p.S88L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.S88L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GAAGAAGCTCGAAGCGCTCTT	0.547																																					p.S88L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C263T	1						.						75.0	72.0	73.0					1																	231374790		2203	4300	6503	229441413	SO:0001631	upstream_gene_variant	128061	exon2			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374790G>A	Exception_encountered		229441413	NM_152379	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	4.089	0.014442	0.07959	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.24	2.36	0.29203	.	0.556835	0.18352	N	0.143855	T	0.10723	0.0262	L	0.35723	1.085	0.09310	N	1	B;B;B;B;B	0.28667	0.03;0.219;0.017;0.017;0.017	B;B;B;B;B	0.22880	0.007;0.042;0.004;0.007;0.004	T	0.19128	-1.0315	10	0.37606	T	0.19	-6.9819	4.4599	0.11661	0.1802:0.0:0.642:0.1778	.	88;88;88;88;88	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	L	88;88;88;78;71	ENSP00000355609:S88L;ENSP00000321341:S88L;ENSP00000355611:S88L;ENSP00000401677:S71L	ENSP00000321341:S88L	S	-	2	0	C1orf131	229441413	0.411000	0.25384	0.063000	0.19743	0.003000	0.03518	0.732000	0.26072	0.886000	0.36113	-0.137000	0.14449	TCG		0.547	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
EGLN1	54583	broad.mit.edu	37	1	231506425	231506425	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231506425C>T	ENST00000366641.3	-	3	4186	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1									p.R344Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TGGAAAAATTCGAAGTATACC	0.393																																					p.R344Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031A	1						.						108.0	108.0	108.0					1																	231506425		2203	4300	6503	229573048	SO:0001583	missense	54583	exon3			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.1031G>A	1.37:g.231506425C>T	ENSP00000355601:p.Arg344Gln		229573048	NM_022051		Missense_Mutation	SNP	ENST00000366641.3	37	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917973	0.92249	.	.	ENSG00000135766	ENST00000366641	T	0.59083	0.29	5.73	5.73	0.89815	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.71170	-0.4671	10	0.30854	T	0.27	-4.6704	19.9155	0.97058	0.0:1.0:0.0:0.0	.	344	Q9GZT9	EGLN1_HUMAN	Q	344	ENSP00000355601:R344Q	ENSP00000355601:R344Q	R	-	2	0	EGLN1	229573048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.008000	0.70739	2.699000	0.92147	0.650000	0.86243	CGA		0.393	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051	
DISC1	27185	broad.mit.edu	37	1	231830420	231830420	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231830420G>A	ENST00000602281.1	+	2	969	c.916G>A	c.(916-918)Gat>Aat	p.D306N	DISC1_ENST00000535983.1_Missense_Mutation_p.D306N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000317586.4_Missense_Mutation_p.D306N|DISC1_ENST00000539444.1_Missense_Mutation_p.D306N|DISC1_ENST00000537876.1_Missense_Mutation_p.D306N|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.D306N|DISC1_ENST00000366636.4_Missense_Mutation_p.D306N|DISC1_ENST00000366633.3_Missense_Mutation_p.D306N|DISC1_ENST00000602873.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	306	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.D306N(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAGTTCTCTGGATCCCTCACT	0.617																																					p.D306N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G916A	1						.						56.0	57.0	57.0					1																	231830420		2203	4300	6503	229897043	SO:0001583	missense	27185	exon2			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.916G>A	1.37:g.231830420G>A	ENSP00000473425:p.Asp306Asn		229897043	NM_001164539	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006796	0.54361	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.94	2.94	0.34122	.	0.337382	0.33110	N	0.005280	T	0.40372	0.1114	L	0.58101	1.795	0.09310	N	1	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;P;D;D	0.67145	0.557;0.976;0.996;0.993;0.976;0.974;0.976;0.976;0.976;0.976;0.981;0.996;0.996;0.976;0.977;0.933;0.988;0.977;0.933;0.976;0.962	B;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.60236	0.277;0.677;0.866;0.784;0.677;0.796;0.743;0.743;0.677;0.743;0.813;0.871;0.871;0.677;0.787;0.544;0.844;0.787;0.544;0.677;0.628	T	0.20874	-1.0262	10	0.45353	T	0.12	-0.6843	12.4158	0.55492	0.0:0.4001:0.5999:0.0	.	306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306;306	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	N	306;306;306;306;306;306;306;306;306;306;306;306;157	ENSP00000403888:D306N;ENSP00000320784:D306N;ENSP00000355596:D306N;ENSP00000443996:D306N;ENSP00000440909:D306N;ENSP00000355593:D306N;ENSP00000440953:D306N;ENSP00000295051:D306N;ENSP00000441193:D306N	ENSP00000295051:D306N	D	+	1	0	DISC1	229897043	0.045000	0.20229	0.000000	0.03702	0.022000	0.10575	2.674000	0.46867	0.545000	0.28902	0.561000	0.74099	GAT		0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
DISC1	27185	broad.mit.edu	37	1	231885698	231885698	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:231885698G>T	ENST00000602281.1	+	4	1197	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	DISC1_ENST00000535983.1_Missense_Mutation_p.D382Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.D382Y|DISC1_ENST00000537876.1_Missense_Mutation_p.D382Y|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.D382Y|DISC1_ENST00000366636.4_Missense_Mutation_p.D382Y|DISC1_ENST00000366633.3_Missense_Mutation_p.D382Y|DISC1_ENST00000602873.1_Missense_Mutation_p.D32Y	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	382	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.D382Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AAGATTAGAAGACCTGGAACA	0.458																																					p.D382Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144T	1						.						102.0	100.0	101.0					1																	231885698		2203	4300	6503	229952321	SO:0001583	missense	27185	exon4			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1144G>T	1.37:g.231885698G>T	ENSP00000473425:p.Asp382Tyr		229952321	NM_001164539	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	18.56	3.649651	0.67358	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.15372	2.88;2.7;2.69;2.45;2.88;2.46;2.46;2.43	4.75	3.76	0.43208	.	0.358789	0.27595	N	0.018674	T	0.25195	0.0612	L	0.34521	1.04	0.23739	N	0.996973	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.997;0.998;0.999;0.999;0.998;0.998;0.999;0.995;0.999;0.999;0.998;0.999;0.999;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D	0.70487	0.946;0.912;0.969;0.947;0.969;0.935;0.911;0.969;0.874;0.947;0.947;0.911;0.947;0.947;0.946;0.911;0.946;0.911;0.911	T	0.02042	-1.1224	10	0.87932	D	0	-8.5446	7.0498	0.25067	0.1251:0.0:0.8749:0.0	.	414;382;414;382;382;382;382;382;32;382;382;382;382;382;382;382;382;382;382	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	Y	382;382;382;414;382;382;382;382;382;382;382	ENSP00000403888:D382Y;ENSP00000355596:D382Y;ENSP00000443996:D382Y;ENSP00000440909:D382Y;ENSP00000355593:D382Y;ENSP00000440953:D382Y;ENSP00000295051:D382Y;ENSP00000441193:D382Y	ENSP00000295051:D382Y	D	+	1	0	DISC1	229952321	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	2.116000	0.41930	2.442000	0.82660	0.655000	0.94253	GAC		0.458	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662	
SIPA1L2	57568	broad.mit.edu	37	1	232551265	232551265	+	Silent	SNP	G	G	A	rs202017607		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:232551265G>A	ENST00000366630.1	-	18	5095	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_ENST00000308942.4_Silent_p.L653L|SIPA1L2_ENST00000262861.4_Silent_p.L1579L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.L1579L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582																																					p.L1579L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C4737T	1						.						93.0	106.0	102.0					1																	232551265		1960	4165	6125	230617888	SO:0001819	synonymous_variant	57568	exon17			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4737C>T	1.37:g.232551265G>A			230617888	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.582	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SIPA1L2	57568	broad.mit.edu	37	1	232564165	232564165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:232564165G>A	ENST00000366630.1	-	16	4760	c.4402C>T	c.(4402-4404)Cga>Tga	p.R1468*	SIPA1L2_ENST00000308942.4_Nonsense_Mutation_p.R542*|SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R1468*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1468					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R1468*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACCTTTCTTCGCCCCTCCTCC	0.403																																					p.R1468X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4402T	1						.						79.0	71.0	73.0					1																	232564165		1842	4098	5940	230630788	SO:0001587	stop_gained	57568	exon15			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4402C>T	1.37:g.232564165G>A	ENSP00000355589:p.Arg1468*		230630788	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	47	13.120571	0.99721	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	.	.	.	5.86	0.894	0.19242	.	0.415283	0.25570	N	0.029769	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9461	10.0101	0.41981	0.0975:0.0:0.3444:0.5581	.	.	.	.	X	1468;1468;542	.	ENSP00000262861:R1468X	R	-	1	2	SIPA1L2	230630788	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.673000	0.46858	0.470000	0.27294	-0.262000	0.10625	CGA		0.403	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
SIPA1L2	57568	broad.mit.edu	37	1	232649848	232649848	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:232649848C>A	ENST00000366630.1	-	2	1596	c.1238G>T	c.(1237-1239)aGa>aTa	p.R413I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R413I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	413					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R413I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTCTCATTTCTAAAGTAAGG	0.517																																					p.R413I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1238T	1						.						160.0	155.0	157.0					1																	232649848		1959	4146	6105	230716471	SO:0001583	missense	57568	exon1			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1238G>T	1.37:g.232649848C>A	ENSP00000355589:p.Arg413Ile		230716471	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678482	0.88542	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.86432	-2.12;-2.12	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	M	0.87456	2.885	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.94664	0.7851	10	0.72032	D	0.01	-28.7966	19.3561	0.94414	0.0:1.0:0.0:0.0	.	413	Q9P2F8	SI1L2_HUMAN	I	413	ENSP00000355589:R413I;ENSP00000262861:R413I	ENSP00000262861:R413I	R	-	2	0	SIPA1L2	230716471	1.000000	0.71417	0.758000	0.31321	0.993000	0.82548	7.651000	0.83577	2.810000	0.96702	0.650000	0.86243	AGA		0.517	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
MAP10	54627	broad.mit.edu	37	1	232942625	232942625	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:232942625A>C	ENST00000418460.1	+	1	1983	c.1856A>C	c.(1855-1857)aAa>aCa	p.K619T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	477					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.K619T(2)									AAGGAAGATAAATATTCTGAA	0.393																																					p.K619T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1856C	1						.						25.0	25.0	25.0					1																	232942625		1836	4094	5930	231009248	SO:0001583	missense	54627	exon1			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1856A>C	1.37:g.232942625A>C	ENSP00000403208:p.Lys619Thr		231009248	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	A	0.685	-0.796615	0.02862	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.24	-1.38	0.09027	.	0.645821	0.12677	U	0.448287	T	0.33089	0.0851	M	0.63428	1.95	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.35992	-0.9766	9	0.59425	D	0.04	-2.8639	2.553	0.04753	0.1785:0.4238:0.241:0.1567	.	477	Q9P2G4	K1383_HUMAN	T	619	.	ENSP00000403208:K619T	K	+	2	0	KIAA1383	231009248	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.615000	0.05597	-0.272000	0.09259	0.533000	0.62120	AAA		0.393	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090	
PCNXL2	80003	broad.mit.edu	37	1	233152693	233152693	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:233152693G>T	ENST00000258229.9	-	27	5047	c.4813C>A	c.(4813-4815)Caa>Aaa	p.Q1605K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.Q257K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1605						integral component of membrane (GO:0016021)		p.Q1605K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCACAGTGTTGAATCCATTCT	0.438																																					p.Q1605K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4813A	1						.						103.0	100.0	101.0					1																	233152693		1959	4172	6131	231219316	SO:0001583	missense	80003	exon27			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4813C>A	1.37:g.233152693G>T	ENSP00000258229:p.Gln1605Lys		231219316	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531808	0.85706	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22539	1.95;3.06	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	L	0.38649	1.16	0.80722	D	1	P;D	0.71674	0.902;0.998	P;D	0.77557	0.616;0.99	T	0.12682	-1.0538	10	0.87932	D	0	.	20.0471	0.97613	0.0:0.0:1.0:0.0	.	1605;257	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	K	257;1605	ENSP00000340759:Q257K;ENSP00000258229:Q1605K	ENSP00000258229:Q1605K	Q	-	1	0	PCNXL2	231219316	1.000000	0.71417	0.990000	0.47175	0.612000	0.37316	9.324000	0.96373	2.731000	0.93534	0.655000	0.94253	CAA		0.438	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233161102	233161102	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:233161102G>A	ENST00000258229.9	-	26	4629	c.4395C>T	c.(4393-4395)ggC>ggT	p.G1465G	PCNXL2_ENST00000344698.2_Silent_p.G117G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1465						integral component of membrane (GO:0016021)		p.G1465G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTCCTCGTCGCCCTCCATGA	0.567											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G1465G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4395T	1						.						75.0	83.0	80.0					1																	233161102		2182	4275	6457	231227725	SO:0001819	synonymous_variant	80003	exon26			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4395C>T	1.37:g.233161102G>A		2363	231227725	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																				0.567	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
KIAA1804	84451	broad.mit.edu	37	1	233490632	233490632	+	Missense_Mutation	SNP	G	G	A	rs550700262		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:233490632G>A	ENST00000366624.3	+	4	1447	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MLK4_ENST00000366623.3_Missense_Mutation_p.E396K	NM_032435.2	NP_115811.2												p.E396K(1)									CTTAATTCTCGAACAGTTGAC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.001				p.E396K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	1						.						149.0	141.0	144.0					1																	233490632		2203	4300	6503	231557255	SO:0001583	missense	84451	exon4																														ENST00000366624.3:c.1186G>A	1.37:g.233490632G>A	ENSP00000355583:p.Glu396Lys		231557255	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080016	0.08533	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.89050	-2.46;-2.46	5.22	2.25	0.28309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.214607	0.40302	N	0.001125	T	0.72479	0.3465	N	0.11106	0.095	0.80722	D	1	B;B	0.23937	0.094;0.001	B;B	0.18561	0.022;0.002	T	0.61168	-0.7117	10	0.06494	T	0.89	.	9.2703	0.37668	0.0768:0.3482:0.5751:0.0	.	396;396	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	K	396	ENSP00000355582:E396K;ENSP00000355583:E396K	ENSP00000355582:E396K	E	+	1	0	RP5-862P8.2	231557255	1.000000	0.71417	0.586000	0.28679	0.462000	0.32619	4.433000	0.59929	0.302000	0.22762	0.655000	0.94253	GAA		0.383	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
KIAA1804	84451	broad.mit.edu	37	1	233514916	233514916	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:233514916G>T	ENST00000366624.3	+	9	2425	c.2164G>T	c.(2164-2166)Gct>Tct	p.A722S	MLK4_ENST00000366622.1_Missense_Mutation_p.A168S	NM_032435.2	NP_115811.2												p.A722S(1)									AACGGAGTCAGCTCTGTATGG	0.552																																					p.A722S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2164T	1						.						73.0	78.0	76.0					1																	233514916		2203	4300	6503	231581539	SO:0001583	missense	84451	exon9																														ENST00000366624.3:c.2164G>T	1.37:g.233514916G>T	ENSP00000355583:p.Ala722Ser		231581539	NM_032435		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509673	0.64522	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.39997	1.05;1.05	4.94	4.94	0.65067	.	0.079076	0.53938	D	0.000060	T	0.63628	0.2527	M	0.65975	2.015	0.44660	D	0.997643	D;P	0.76494	0.999;0.945	D;P	0.71656	0.974;0.65	T	0.66204	-0.5982	10	0.62326	D	0.03	.	18.3695	0.90402	0.0:0.0:1.0:0.0	.	169;722	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	S	722;168	ENSP00000355583:A722S;ENSP00000355581:A168S	ENSP00000355581:A168S	A	+	1	0	RP5-862P8.2	231581539	1.000000	0.71417	0.103000	0.21229	0.013000	0.08279	6.445000	0.73456	2.570000	0.86706	0.650000	0.86243	GCT		0.552	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
KDM1A	23028	broad.mit.edu	37	1	23381623	23381623	+	Silent	SNP	C	C	T	rs189014649		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:23381623C>T	ENST00000356634.3	+	5	941	c.792C>T	c.(790-792)ttC>ttT	p.F264F	MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000542151.1_Silent_p.F284F|KDM1A_ENST00000400181.4_Silent_p.F284F|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	264	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F284F(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATCAACTTCGGCATCTATA	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13706	0.0		0.0	False		,,,				2504	0.0				p.F284F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	1						.						190.0	187.0	188.0					1																	23381623		2203	4300	6503	23254210	SO:0001819	synonymous_variant	23028	exon6			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.792C>T	1.37:g.23381623C>T			23254210	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	CCDS30627.1																																																																																				0.368	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
SLC35F3	148641	broad.mit.edu	37	1	234367368	234367368	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:234367368C>T	ENST00000366617.3	+	2	510	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SLC35F3_ENST00000366618.3_Silent_p.F163F			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	94					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.F163F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAGGAAGTTCGACGCGCCCT	0.587																																					p.F163F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	1						.						173.0	149.0	157.0					1																	234367368		2203	4300	6503	232433991	SO:0001819	synonymous_variant	148641	exon3				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.282C>T	1.37:g.234367368C>T			232433991	NM_173508	Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37																																																																																					0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508	
RBM34	23029	broad.mit.edu	37	1	235324364	235324364	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235324364G>A	ENST00000408888.3	-	2	302	c.72C>T	c.(70-72)ggC>ggT	p.G24G	RBM34_ENST00000366606.3_Silent_p.G19G			P42696	RBM34_HUMAN	RNA binding motif protein 34	24						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G24G(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCCCGCGAACGCCGTCGTCAG	0.612																																					p.G24G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72T	1						.						40.0	48.0	46.0					1																	235324364		2073	4188	6261	233390987	SO:0001819	synonymous_variant	23029	exon2				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.72C>T	1.37:g.235324364G>A			233390987	NM_001161533	A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	CCDS41477.2																																																																																				0.612	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014	
ARID4B	51742	broad.mit.edu	37	1	235388051	235388051	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235388051G>T	ENST00000264183.3	-	12	1434	c.937C>A	c.(937-939)Ctt>Att	p.L313I	ARID4B_ENST00000366603.2_Missense_Mutation_p.L313I|ARID4B_ENST00000349213.3_Missense_Mutation_p.L313I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	313	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L313I(2)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AATTGCTGAAGAAAGTTCTCC	0.269																																					p.L313I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C937A	1						.						52.0	53.0	53.0					1																	235388051		2200	4292	6492	233454674	SO:0001583	missense	51742	exon12			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.937C>A	1.37:g.235388051G>T	ENSP00000264183:p.Leu313Ile		233454674	NM_031371	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411615	0.83340	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.45	5.45	0.79879	ARID/BRIGHT DNA-binding domain (5);	0.056505	0.64402	D	0.000001	T	0.79811	0.4510	L	0.52905	1.665	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.80764	0.99;0.994;0.973	T	0.80079	-0.1532	10	0.62326	D	0.03	-11.0695	19.6409	0.95757	0.0:0.0:1.0:0.0	.	313;313;313	Q4LE39-3;Q4LE39-2;Q4LE39	.;.;ARI4B_HUMAN	I	313	ENSP00000264184:L313I;ENSP00000355562:L313I;ENSP00000264183:L313I;ENSP00000391497:L313I	ENSP00000264183:L313I	L	-	1	0	ARID4B	233454674	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.341000	0.79300	2.717000	0.92951	0.650000	0.86243	CTT		0.269	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
GGPS1	9453	broad.mit.edu	37	1	235505820	235505820	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235505820G>T	ENST00000282841.5	+	4	868	c.636G>T	c.(634-636)aaG>aaT	p.K212N	GGPS1_ENST00000358966.2_Missense_Mutation_p.K212N|GGPS1_ENST00000476121.1_Missense_Mutation_p.K212N|GGPS1_ENST00000488594.1_Missense_Mutation_p.K212N|GGPS1_ENST00000391855.2_Missense_Mutation_p.K158N			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	212					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)	p.K212N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	CAGAGGGAAAGTTCTCATTTC	0.368																																					p.K212N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G636T	1						.						82.0	86.0	84.0					1																	235505820		2203	4300	6503	233572443	SO:0001583	missense	9453	exon4			AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.636G>T	1.37:g.235505820G>T	ENSP00000282841:p.Lys212Asn		233572443	NM_001037277	A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628163	0.66901	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	6.17	1.13	0.20643	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.87661	0.6233	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85269	0.1055	10	0.87932	D	0	-18.2081	7.5513	0.27798	0.2424:0.1093:0.6483:0.0	.	212	O95749	GGPPS_HUMAN	N	212;212;212;212;158;212;212	ENSP00000418690:K212N;ENSP00000417772:K212N;ENSP00000351852:K212N;ENSP00000282841:K212N;ENSP00000375728:K158N;ENSP00000420183:K212N;ENSP00000417865:K212N	ENSP00000282841:K212N	K	+	3	2	GGPS1	233572443	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.474000	0.45154	-0.027000	0.13873	0.655000	0.94253	AAG		0.368	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837	
GNG4	2786	broad.mit.edu	37	1	235715441	235715441	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235715441G>A	ENST00000366598.4	-	3	411	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000391854.2_Missense_Mutation_p.R66C|GNG4_ENST00000450593.1_Missense_Mutation_p.R66C|GNG4_ENST00000366597.1_Missense_Mutation_p.R66C			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	66					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R66C(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TTCTTCTCGCGAAAGGGGTTT	0.517																																					p.R66C												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C196T	1						.						166.0	164.0	165.0					1																	235715441		2203	4300	6503	233782064	SO:0001583	missense	2786	exon3			BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.196C>T	1.37:g.235715441G>A	ENSP00000355557:p.Arg66Cys		233782064	NM_004485		Missense_Mutation	SNP	ENST00000366598.4	37	CCDS1607.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651009	0.67472	.	.	ENSG00000168243	ENST00000450593;ENST00000391854;ENST00000366598;ENST00000366597	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.75	2.66	0.31614	G-protein gamma domain (5);	0.000000	0.64402	D	0.000001	T	0.48750	0.1517	.	.	.	0.44825	D	0.997832	D	0.89917	1.0	D	0.69824	0.966	T	0.56147	-0.8027	9	0.87932	D	0	-14.4191	12.4754	0.55809	0.0:0.0:0.5693:0.4307	.	66	P50150	GBG4_HUMAN	C	66	ENSP00000398629:R66C;ENSP00000375727:R66C;ENSP00000355557:R66C;ENSP00000355556:R66C	ENSP00000355556:R66C	R	-	1	0	GNG4	233782064	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.563000	0.45922	1.177000	0.42855	0.561000	0.74099	CGC		0.517	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097906.1	NM_004485	
LYST	1130	broad.mit.edu	37	1	235826273	235826273	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235826273G>T	ENST00000389794.3	-	53	11547	c.11373C>A	c.(11371-11373)ttC>ttA	p.F3791L	LYST_ENST00000389793.2_Missense_Mutation_p.F3791L|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3791					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F3791L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAAGGAATAGAACATTGGCT	0.468																																					p.F3791L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11373A	1						.						131.0	134.0	133.0					1																	235826273		2203	4300	6503	233892896	SO:0001583	missense	1130	exon53			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11373C>A	1.37:g.235826273G>T	ENSP00000374444:p.Phe3791Leu		233892896	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570407	0.96540	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62941	-0.01;-0.01	5.87	5.87	0.94306	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.59436	1.845	0.80722	D	1	D	0.54397	0.966	P	0.57283	0.817	T	0.69525	-0.5122	10	0.35671	T	0.21	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	3791	Q99698	LYST_HUMAN	L	3791	ENSP00000374444:F3791L;ENSP00000374443:F3791L	ENSP00000374443:F3791L	F	-	3	2	LYST	233892896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.573000	0.67417	2.779000	0.95612	0.655000	0.94253	TTC		0.468	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235972394	235972394	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235972394G>A	ENST00000389794.3	-	5	1898	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	LYST_ENST00000389793.2_Missense_Mutation_p.S575L|LYST_ENST00000536965.1_Missense_Mutation_p.S575L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	575					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGAACACCCGATAGGATCTG	0.443																																					p.S575L												.	.	0			c.C1724T	1						.						122.0	117.0	119.0					1																	235972394		2203	4300	6503	234039017	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1724C>T	1.37:g.235972394G>A	ENSP00000374444:p.Ser575Leu		234039017	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.774564	0.31411	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68479	-0.33;-0.33;1.21	5.6	4.69	0.59074	.	0.257624	0.39407	N	0.001364	T	0.68449	0.3002	L	0.57536	1.79	0.32066	N	0.59504	P;P	0.49961	0.93;0.841	P;B	0.47102	0.537;0.185	T	0.76124	-0.3074	10	0.48119	T	0.1	.	14.7764	0.69734	0.0693:0.0:0.9307:0.0	.	575;575	Q99698-3;Q99698	.;LYST_HUMAN	L	575	ENSP00000374444:S575L;ENSP00000374443:S575L;ENSP00000438315:S575L	ENSP00000374443:S575L	S	-	2	0	LYST	234039017	0.962000	0.33011	0.006000	0.13384	0.005000	0.04900	2.541000	0.45735	1.380000	0.46344	-0.127000	0.14921	TCG		0.443	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235972610	235972610	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235972610C>T	ENST00000389794.3	-	5	1682	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q	LYST_ENST00000389793.2_Missense_Mutation_p.R503Q|LYST_ENST00000536965.1_Missense_Mutation_p.R503Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	503					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R503Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATATTCACATCGTCTGTGCCT	0.368																																					p.R503Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508A	1						.						112.0	111.0	111.0					1																	235972610		2203	4300	6503	234039233	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1508G>A	1.37:g.235972610C>T	ENSP00000374444:p.Arg503Gln		234039233	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502589	0.85176	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.15372	2.43;2.43;2.43	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.21895	-1.0232	10	0.66056	D	0.02	.	19.2976	0.94129	0.0:1.0:0.0:0.0	.	503;503	Q99698-3;Q99698	.;LYST_HUMAN	Q	503	ENSP00000374444:R503Q;ENSP00000374443:R503Q;ENSP00000438315:R503Q	ENSP00000374443:R503Q	R	-	2	0	LYST	234039233	1.000000	0.71417	0.651000	0.29564	0.945000	0.59286	7.487000	0.81328	2.547000	0.85894	0.650000	0.86243	CGA		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235972904	235972904	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235972904A>G	ENST00000389794.3	-	5	1388	c.1214T>C	c.(1213-1215)tTg>tCg	p.L405S	LYST_ENST00000389793.2_Missense_Mutation_p.L405S|LYST_ENST00000536965.1_Missense_Mutation_p.L405S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	405					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.L405S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACTCCTTCCAAAAGCTCAGG	0.408																																					p.L405S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1214C	1						.						95.0	100.0	98.0					1																	235972904		2203	4300	6503	234039527	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1214T>C	1.37:g.235972904A>G	ENSP00000374444:p.Leu405Ser		234039527	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.706093	0.68615	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.72505	-0.66;-0.66;2.51	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.82337	0.5015	M	0.64997	1.995	0.53005	D	0.99996	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.941	D	0.84334	0.0523	10	0.87932	D	0	.	15.7025	0.77552	1.0:0.0:0.0:0.0	.	405;405	Q99698-3;Q99698	.;LYST_HUMAN	S	405	ENSP00000374444:L405S;ENSP00000374443:L405S;ENSP00000438315:L405S	ENSP00000374443:L405S	L	-	2	0	LYST	234039527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.111000	0.64477	0.482000	0.46254	TTG		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235973133	235973133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235973133G>A	ENST00000389794.3	-	5	1159	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	329					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R329R(1)|p.R329*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438																																					p.R329X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C985T	1						.						46.0	44.0	45.0					1																	235973133		2203	4300	6503	234039756	SO:0001587	stop_gained	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.985C>T	1.37:g.235973133G>A	ENSP00000374444:p.Arg329*		234039756	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	39	7.905411	0.98554	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.49	2.35	0.29111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3614	0.38197	0.0679:0.0:0.5627:0.3693	.	.	.	.	X	329	.	ENSP00000374443:R329X	R	-	1	2	LYST	234039756	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.688000	0.54699	0.747000	0.32809	0.655000	0.94253	CGA		0.438	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235973720	235973720	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:235973720A>G	ENST00000389794.3	-	5	572	c.398T>C	c.(397-399)gTt>gCt	p.V133A	LYST_ENST00000389793.2_Missense_Mutation_p.V133A|LYST_ENST00000536965.1_Missense_Mutation_p.V133A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	133					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.V133A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTGCAGAAACCTGACTAGA	0.398																																					p.V133A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T398C	1						.						87.0	89.0	88.0					1																	235973720		2203	4300	6503	234040343	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.398T>C	1.37:g.235973720A>G	ENSP00000374444:p.Val133Ala		234040343	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	1.483	-0.556731	0.03967	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.12672	2.66;2.66;2.66	5.8	3.31	0.37934	.	0.546063	0.20143	N	0.098323	T	0.09818	0.0241	L	0.44542	1.39	0.23113	N	0.998272	B;B	0.28233	0.204;0.0	B;B	0.30401	0.115;0.001	T	0.25984	-1.0116	10	0.33940	T	0.23	.	0.4985	0.00576	0.4422:0.2033:0.1596:0.195	.	133;133	Q99698-3;Q99698	.;LYST_HUMAN	A	133	ENSP00000374444:V133A;ENSP00000374443:V133A;ENSP00000438315:V133A	ENSP00000374443:V133A	V	-	2	0	LYST	234040343	0.233000	0.23772	1.000000	0.80357	0.957000	0.61999	1.439000	0.35013	0.996000	0.38943	0.460000	0.39030	GTT		0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	G	A	rs373795201		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236141260G>A	ENST00000264187.6	-	20	3733	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_ENST00000366595.3_Silent_p.G1084G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1217	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.G1217G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		16734	0.0		0.0	False		,,,				2504	0.001				p.G1217G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3651T	1						.	G		0,4406		0,0,2203	76.0	75.0	75.0		3651	-11.4	0.2	1		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID1	NM_002508.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1217/1248	236141260	1,13005	2203	4300	6503	234207883	SO:0001819	synonymous_variant	4811	exon20			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3651C>T	1.37:g.236141260G>A			234207883	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
NID1	4811	broad.mit.edu	37	1	236143893	236143893	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236143893G>A	ENST00000264187.6	-	17	3370	c.3288C>T	c.(3286-3288)gaC>gaT	p.D1096D	NID1_ENST00000366595.3_Silent_p.D963D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1096					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.D1096D(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGTTCGTGCCGTCCATGTAGG	0.512																																					p.D1096D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3288T	1						.						95.0	89.0	91.0					1																	236143893		2203	4300	6503	234210516	SO:0001819	synonymous_variant	4811	exon17			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3288C>T	1.37:g.236143893G>A			234210516	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.512	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
NID1	4811	broad.mit.edu	37	1	236157131	236157131	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236157131G>T	ENST00000264187.6	-	13	2651	c.2569C>A	c.(2569-2571)Ctc>Atc	p.L857I	NID1_ENST00000366595.3_Missense_Mutation_p.L724I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	857	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.L857I(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTGCCCCGAGAATGTGTTCT	0.627																																					p.L857I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2569A	1						.						32.0	33.0	33.0					1																	236157131		2203	4300	6503	234223754	SO:0001583	missense	4811	exon13			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2569C>A	1.37:g.236157131G>T	ENSP00000264187:p.Leu857Ile		234223754	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957676	0.53400	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.68479	-0.33;-0.33	5.56	4.64	0.57946	Thyroglobulin type-1 (3);	0.124031	0.56097	D	0.000040	T	0.72779	0.3503	M	0.81942	2.565	0.20074	N	0.999935	D;B	0.61697	0.99;0.368	P;B	0.50617	0.646;0.199	T	0.69431	-0.5147	10	0.66056	D	0.02	.	9.7067	0.40220	0.1513:0.0:0.8487:0.0	.	724;857	P14543-2;P14543	.;NID1_HUMAN	I	857;724	ENSP00000264187:L857I;ENSP00000355554:L724I	ENSP00000264187:L857I	L	-	1	0	NID1	234223754	0.931000	0.31567	0.976000	0.42696	0.539000	0.34962	1.104000	0.31074	2.608000	0.88229	0.455000	0.32223	CTC		0.627	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
NID1	4811	broad.mit.edu	37	1	236189352	236189352	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236189352G>A	ENST00000264187.6	-	8	1910	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C	NID1_ENST00000366595.3_Missense_Mutation_p.R610C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	610	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R610C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ATGGTCTGGCGCCACTGGTAA	0.612																																					p.R610C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1828T	1						.						126.0	116.0	119.0					1																	236189352		2203	4300	6503	234255975	SO:0001583	missense	4811	exon8			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1828C>T	1.37:g.236189352G>A	ENSP00000264187:p.Arg610Cys		234255975	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002803	0.74932	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.32515	1.45;1.45	5.02	4.04	0.47022	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.053961	0.64402	D	0.000001	T	0.52725	0.1752	M	0.69823	2.125	0.48830	D	0.999715	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.55964	-0.8057	10	0.72032	D	0.01	.	13.3515	0.60605	0.0:0.0:0.7446:0.2554	.	610;610	P14543-2;P14543	.;NID1_HUMAN	C	610	ENSP00000264187:R610C;ENSP00000355554:R610C	ENSP00000264187:R610C	R	-	1	0	NID1	234255975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.611000	0.54132	2.600000	0.87896	0.655000	0.94253	CGC		0.612	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
GPR137B	7107	broad.mit.edu	37	1	236368476	236368476	+	Silent	SNP	C	C	T	rs373821559		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236368476C>T	ENST00000366592.3	+	6	1108	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	339						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.F339F(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GATCTTATTTCTTTGACAACC	0.468																																					p.F339F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1017T	1						.						210.0	207.0	208.0					1																	236368476		2203	4300	6503	234435099	SO:0001819	synonymous_variant	7107	exon6			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.1017C>T	1.37:g.236368476C>T			234435099	NM_003272	Q53EK7|Q5TAE6|Q6FHI3	Silent	SNP	ENST00000366592.3	37	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.402929	0.25291	.	.	ENSG00000077585	ENST00000454895	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	T	0.65428	0.2690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62397	-0.6863	4	.	.	.	-37.3962	13.1354	0.59405	0.0:0.9265:0.0:0.0735	.	.	.	.	F	203	.	.	S	+	2	0	GPR137B	234435099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.305000	0.43664	2.798000	0.96311	0.650000	0.86243	TCT		0.468	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272	
ERO1LB	56605	broad.mit.edu	37	1	236384168	236384168	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236384168C>T	ENST00000354619.5	-	15	1508	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	GPR137B_ENST00000477559.1_Intron	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	436					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.R436Q(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATTTCCTGTCGGGTGAGTTG	0.368																																					p.R436Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1307A	1						.						89.0	93.0	92.0					1																	236384168		2203	4300	6503	234450791	SO:0001583	missense	56605	exon15			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1307G>A	1.37:g.236384168C>T	ENSP00000346635:p.Arg436Gln		234450791	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054482	0.93793	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.56776	0.44;0.44	5.12	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82502	-0.0425	10	0.72032	D	0.01	-11.9086	13.9587	0.64166	0.0:0.9248:0.0:0.0752	.	436	Q86YB8	ERO1B_HUMAN	Q	436;161	ENSP00000346635:R436Q;ENSP00000264181:R161Q	ENSP00000264181:R161Q	R	-	2	0	ERO1LB	234450791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.650000	0.67944	2.397000	0.81536	0.579000	0.79373	CGA		0.368	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
ERO1LB	56605	broad.mit.edu	37	1	236385268	236385268	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236385268C>T	ENST00000354619.5	-	14	1366	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	389					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.D389N(2)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CCAACACAGTCCATTATACGG	0.343																																					p.D389N												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1165A	1						.						105.0	103.0	104.0					1																	236385268		2203	4300	6503	234451891	SO:0001583	missense	56605	exon14			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1165G>A	1.37:g.236385268C>T	ENSP00000346635:p.Asp389Asn		234451891	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734211	0.96865	.	.	ENSG00000086619	ENST00000354619;ENST00000264181	T;T	0.58506	0.33;0.33	5.79	5.79	0.91817	.	0.044204	0.85682	D	0.000000	T	0.79293	0.4421	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.79072	-0.1953	10	0.48119	T	0.1	-23.0621	20.0275	0.97527	0.0:1.0:0.0:0.0	.	389	Q86YB8	ERO1B_HUMAN	N	389;114	ENSP00000346635:D389N;ENSP00000264181:D114N	ENSP00000264181:D114N	D	-	1	0	ERO1LB	234451891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.422000	0.80217	2.737000	0.93849	0.650000	0.86243	GAC		0.343	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
ERO1LB	56605	broad.mit.edu	37	1	236399589	236399589	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236399589C>A	ENST00000354619.5	-	7	816	c.615G>T	c.(613-615)gaG>gaT	p.E205D	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	205					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.E205D(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TGAAACAGTTCTCTTCATAGA	0.537																																					p.E205D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G615T	1						.						144.0	148.0	146.0					1																	236399589		2203	4300	6503	234466212	SO:0001583	missense	56605	exon7			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.615G>T	1.37:g.236399589C>A	ENSP00000346635:p.Glu205Asp		234466212	NM_019891	B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065947	0.76187	.	.	ENSG00000086619	ENST00000354619	T	0.57436	0.4	5.55	0.7	0.18099	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.90650	3.135	0.80722	D	1	D	0.64830	0.994	D	0.65443	0.935	T	0.71790	-0.4486	10	0.87932	D	0	-27.5676	9.1773	0.37120	0.0:0.2801:0.0:0.7199	.	205	Q86YB8	ERO1B_HUMAN	D	205	ENSP00000346635:E205D	ENSP00000346635:E205D	E	-	3	2	ERO1LB	234466212	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.585000	0.23879	-0.125000	0.11703	-0.471000	0.05019	GAG		0.537	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891	
LGALS8	3964	broad.mit.edu	37	1	236711312	236711312	+	Splice_Site	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236711312A>G	ENST00000366584.4	+	10	1371	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526589.1_Splice_Site_p.M311V|LGALS8_ENST00000352231.2_Splice_Site_p.M311V|LGALS8_ENST00000416919.2_Splice_Site_p.M252V|LGALS8_ENST00000527974.1_Splice_Site_p.M311V|LGALS8_ENST00000450372.2_Splice_Site_p.M311V|LGALS8_ENST00000341872.6_Splice_Site_p.M269V|LGALS8_ENST00000323938.6_Splice_Site_p.M242V|LGALS8_ENST00000525042.1_Splice_Site_p.M252V|LGALS8_ENST00000526634.1_Splice_Site_p.M269V	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	269	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.M311V(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCTTTCAGATGATAATTTA	0.363																																					p.M269V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A805G	1						.						109.0	103.0	105.0					1																	236711312		2203	4300	6503	234777935	SO:0001630	splice_region_variant	3964	exon10			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.805-1A>G	1.37:g.236711312A>G			234777935	NM_201544	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.515218	0.44763	.	.	ENSG00000116977	ENST00000527974;ENST00000352231;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000356238;ENST00000416919;ENST00000323938;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.152098	0.64402	D	0.000015	T	0.04272	0.0118	L	0.28054	0.825	0.46241	D	0.998949	B;B;B	0.31581	0.329;0.073;0.329	B;B;B	0.31869	0.094;0.135;0.137	T	0.54173	-0.8333	9	.	.	.	-15.1152	11.4418	0.50100	0.8076:0.1924:0.0:0.0	.	252;269;311	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	V	311;311;311;269;311;269;310;252;242;269;252	ENSP00000431398:M311V;ENSP00000309576:M311V;ENSP00000435460:M311V;ENSP00000342139:M269V;ENSP00000408657:M311V;ENSP00000355543:M269V;ENSP00000410843:M252V;ENSP00000434860:M242V;ENSP00000437040:M269V;ENSP00000431884:M252V	.	M	+	1	0	LGALS8	234777935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.144000	0.58057	2.212000	0.71576	0.528000	0.53228	ATG		0.363	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	Missense_Mutation
HEATR1	55127	broad.mit.edu	37	1	236748507	236748507	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236748507A>C	ENST00000366582.3	-	17	2173	c.2059T>G	c.(2059-2061)Tta>Gta	p.L687V	HEATR1_ENST00000366581.2_Missense_Mutation_p.L687V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	687					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACGCTTATTAAATCCTCCACC	0.363																																					p.L687V												.	.	0			c.T2059G	1						.						102.0	98.0	99.0					1																	236748507		2203	4300	6503	234815130	SO:0001583	missense	55127	exon17			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2059T>G	1.37:g.236748507A>C	ENSP00000355541:p.Leu687Val		234815130	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783353	0.31593	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.71817	-0.6;3.13	5.87	3.47	0.39725	Armadillo-type fold (1);	0.230325	0.37623	N	0.002010	T	0.57902	0.2085	L	0.52364	1.645	0.80722	D	1	B	0.17038	0.02	B	0.11329	0.006	T	0.54583	-0.8272	10	0.40728	T	0.16	.	2.9853	0.05966	0.4682:0.2348:0.297:0.0	.	687	Q9H583	HEAT1_HUMAN	V	687	ENSP00000355541:L687V;ENSP00000355540:L687V	ENSP00000355540:L687V	L	-	1	2	HEATR1	234815130	1.000000	0.71417	0.980000	0.43619	0.478000	0.33099	1.544000	0.36158	0.999000	0.39023	0.482000	0.46254	TTA		0.363	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
HEATR1	55127	broad.mit.edu	37	1	236750713	236750713	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236750713C>A	ENST00000366582.3	-	14	1818	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	HEATR1_ENST00000366581.2_Missense_Mutation_p.K568N	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	568					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.K568N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATTCTCCATTCTTTGAAAGTT	0.294																																					p.K568N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1704T	1						.						43.0	41.0	42.0					1																	236750713		2200	4289	6489	234817336	SO:0001583	missense	55127	exon14			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1704G>T	1.37:g.236750713C>A	ENSP00000355541:p.Lys568Asn		234817336	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880858	0.51801	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64991	-0.13;0.69	5.58	2.6	0.31112	Armadillo-like helical (1);Armadillo-type fold (1);	0.297452	0.32769	N	0.005668	T	0.47488	0.1448	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30149	-0.9988	10	0.44086	T	0.13	.	7.3438	0.26652	0.0:0.6151:0.0:0.3849	.	568	Q9H583	HEAT1_HUMAN	N	568	ENSP00000355541:K568N;ENSP00000355540:K568N	ENSP00000355540:K568N	K	-	3	2	HEATR1	234817336	0.997000	0.39634	0.967000	0.41034	0.745000	0.42441	0.596000	0.24044	0.248000	0.21435	-0.136000	0.14681	AAG		0.294	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
HEATR1	55127	broad.mit.edu	37	1	236766479	236766479	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:236766479G>T	ENST00000366582.3	-	3	454	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	HEATR1_ENST00000366579.1_Missense_Mutation_p.L114M|HEATR1_ENST00000366581.2_Missense_Mutation_p.L114M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	114					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.L114M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACCACTCCAGACACTTCTGT	0.353																																					p.L114M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340A	1						.						122.0	110.0	114.0					1																	236766479		2203	4300	6503	234833102	SO:0001583	missense	55127	exon3			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.340C>A	1.37:g.236766479G>T	ENSP00000355541:p.Leu114Met		234833102	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312654	0.40895	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.54279	0.58;0.58;0.58	5.29	4.38	0.52667	.	0.243774	0.35525	N	0.003153	T	0.64659	0.2618	M	0.78344	2.41	0.47276	D	0.999376	D	0.59767	0.986	P	0.52627	0.704	T	0.70350	-0.4896	10	0.62326	D	0.03	.	13.8584	0.63545	0.0738:0.0:0.9262:0.0	.	114	Q9H583	HEAT1_HUMAN	M	114	ENSP00000355541:L114M;ENSP00000355540:L114M;ENSP00000355538:L114M	ENSP00000355538:L114M	L	-	1	2	HEATR1	234833102	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.379000	0.52440	1.239000	0.43787	-0.251000	0.11542	CTG		0.353	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RYR2	6262	broad.mit.edu	37	1	237532885	237532885	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237532885C>T	ENST00000366574.2	+	6	678	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	RYR2_ENST00000542537.1_Silent_p.L105L|RYR2_ENST00000360064.6_Silent_p.L119L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	121	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L119L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCATATTGCTGCGCCATTC	0.458																																					p.L121L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C361T	1						.						150.0	125.0	133.0					1																	237532885		1968	4155	6123	235599508	SO:0001819	synonymous_variant	6262	exon6			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.361C>T	1.37:g.237532885C>T			235599508	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.458	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237675032	237675032	+	Missense_Mutation	SNP	C	C	A	rs4336838		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237675032C>A	ENST00000366574.2	+	24	3080	c.2763C>A	c.(2761-2763)ttC>ttA	p.F921L	RYR2_ENST00000542537.1_Missense_Mutation_p.F905L|RYR2_ENST00000360064.6_Missense_Mutation_p.F919L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	921	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F919L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGAGTTCTCCAAGCTGC	0.443																																					p.F921L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2763A	1						.						57.0	56.0	56.0					1																	237675032		1902	4127	6029	235741655	SO:0001583	missense	6262	exon24			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2763C>A	1.37:g.237675032C>A	ENSP00000355533:p.Phe921Leu		235741655	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272060	0.80469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93076	-3.16;-3.16;-3.16	5.44	3.57	0.40892	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000002	D	0.94905	0.8353	M	0.86953	2.85	0.80722	D	1	P	0.48911	0.917	P	0.51016	0.656	D	0.94732	0.7910	10	0.87932	D	0	.	9.8224	0.40891	0.0:0.7826:0.0:0.2174	.	921	Q92736	RYR2_HUMAN	L	921;919;905	ENSP00000355533:F921L;ENSP00000353174:F919L;ENSP00000443798:F905L	ENSP00000353174:F919L	F	+	3	2	RYR2	235741655	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	0.517000	0.22832	1.297000	0.44761	0.655000	0.94253	TTC		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237756882	237756882	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237756882G>T	ENST00000366574.2	+	33	4699	c.4382G>T	c.(4381-4383)aGa>aTa	p.R1461I	RYR2_ENST00000542537.1_Missense_Mutation_p.R1445I|RYR2_ENST00000360064.6_Missense_Mutation_p.R1459I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1461	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1459I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACTTGGACAGAGTTCGCACA	0.393																																					p.R1461I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4382T	1						.						98.0	89.0	92.0					1																	237756882		1900	4119	6019	235823505	SO:0001583	missense	6262	exon33			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4382G>T	1.37:g.237756882G>T	ENSP00000355533:p.Arg1461Ile		235823505	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819784	0.71028	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60424	0.19;0.19;0.19	4.9	3.99	0.46301	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.242826	0.33732	N	0.004609	T	0.39410	0.1077	N	0.19112	0.55	0.80722	D	1	P	0.39601	0.68	B	0.35607	0.206	T	0.40905	-0.9538	10	0.72032	D	0.01	.	9.7796	0.40640	0.1572:0.0:0.8428:0.0	.	1461	Q92736	RYR2_HUMAN	I	1461;1459;1445	ENSP00000355533:R1461I;ENSP00000353174:R1459I;ENSP00000443798:R1445I	ENSP00000353174:R1459I	R	+	2	0	RYR2	235823505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.282000	0.58971	1.265000	0.44215	0.650000	0.86243	AGA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237780692	237780692	+	Missense_Mutation	SNP	G	G	A	rs373600053		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237780692G>A	ENST00000366574.2	+	38	6139	c.5822G>A	c.(5821-5823)cGt>cAt	p.R1941H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1925H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1941	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1939H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACAATCAACGTTTCCGATAC	0.473																																					p.R1941H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5822A	1						.	G	HIS/ARG	0,3966		0,0,1983	101.0	93.0	95.0		5822	5.4	1.0	1		95	1,8371		0,1,4185	no	missense	RYR2	NM_001035.2	29	0,1,6168	AA,AG,GG		0.0119,0.0,0.0081	probably-damaging	1941/4968	237780692	1,12337	1983	4186	6169	235847315	SO:0001583	missense	6262	exon38			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5822G>A	1.37:g.237780692G>A	ENSP00000355533:p.Arg1941His		235847315	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346932	0.82022	0.0	1.19E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73681	-0.77;-0.77;-0.77	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000005	D	0.84492	0.5484	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.84132	0.0412	10	0.46703	T	0.11	.	19.1627	0.93541	0.0:0.0:1.0:0.0	.	1941	Q92736	RYR2_HUMAN	H	1941;1939;1925	ENSP00000355533:R1941H;ENSP00000353174:R1939H;ENSP00000443798:R1925H	ENSP00000353174:R1939H	R	+	2	0	RYR2	235847315	0.960000	0.32886	0.963000	0.40424	0.982000	0.71751	4.064000	0.57506	2.517000	0.84864	0.650000	0.86243	CGT		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237895389	237895389	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237895389G>T	ENST00000366574.2	+	78	11296	c.10979G>T	c.(10978-10980)aGa>aTa	p.R3660I	RYR2_ENST00000542537.1_Missense_Mutation_p.R3644I|RYR2_ENST00000360064.6_Missense_Mutation_p.R3658I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3660					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3658I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCACTAAGAGAGTTGATCCT	0.398																																					p.R3660I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G10979T	1						.						110.0	108.0	109.0					1																	237895389		1851	4085	5936	235962012	SO:0001583	missense	6262	exon78			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10979G>T	1.37:g.237895389G>T	ENSP00000355533:p.Arg3660Ile		235962012	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310528	0.40895	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96587	-4.06;-4.04;-4.06	5.62	2.27	0.28462	.	0.215362	0.31636	N	0.007317	D	0.90195	0.6935	N	0.14661	0.345	0.80722	D	1	P;P	0.44344	0.833;0.698	B;B	0.41271	0.352;0.156	D	0.87856	0.2661	10	0.66056	D	0.02	-11.2005	7.7813	0.29066	0.2126:0.1252:0.6621:0.0	.	615;3660	B4DGV4;Q92736	.;RYR2_HUMAN	I	3660;3658;3644;615	ENSP00000355533:R3660I;ENSP00000353174:R3658I;ENSP00000443798:R3644I	ENSP00000353174:R3658I	R	+	2	0	RYR2	235962012	1.000000	0.71417	0.995000	0.50966	0.669000	0.39330	3.984000	0.56923	0.734000	0.32515	0.655000	0.94253	AGA		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237947717	237947717	+	Missense_Mutation	SNP	C	C	A	rs373606009	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:237947717C>A	ENST00000366574.2	+	90	13022	c.12705C>A	c.(12703-12705)ttC>ttA	p.F4235L	RYR2_ENST00000542537.1_Missense_Mutation_p.F4219L|RYR2_ENST00000360064.6_Missense_Mutation_p.F4241L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4235					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F4233L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATGGCTTTCTTCTCCATTC	0.542																																					p.F4235L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12705A	1						.						56.0	62.0	60.0					1																	237947717		1968	4149	6117	236014340	SO:0001583	missense	6262	exon90			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12705C>A	1.37:g.237947717C>A	ENSP00000355533:p.Phe4235Leu		236014340	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653753	0.03480	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96522	-4.04;-4.04;-4.04	5.11	4.12	0.48240	.	0.163221	0.38959	N	0.001502	D	0.88955	0.6578	N	0.05306	-0.075	0.80722	D	1	B;B	0.13594	0.008;0.001	B;B	0.10450	0.005;0.001	D	0.84305	0.0507	10	0.23891	T	0.37	.	11.6494	0.51279	0.0:0.8615:0.0:0.1385	.	1209;4235	B4DGV4;Q92736	.;RYR2_HUMAN	L	4235;4241;4219;1209	ENSP00000355533:F4235L;ENSP00000353174:F4241L;ENSP00000443798:F4219L	ENSP00000353174:F4241L	F	+	3	2	RYR2	236014340	0.998000	0.40836	0.999000	0.59377	0.021000	0.10359	1.201000	0.32259	2.657000	0.90304	0.655000	0.94253	TTC		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ZP4	57829	broad.mit.edu	37	1	238050102	238050102	+	Missense_Mutation	SNP	G	G	A	rs367738455		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:238050102G>A	ENST00000366570.4	-	6	966	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	270	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R270C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAGAGCCACGGCTCCCATTT	0.483																																					p.R270C	NSCLC(166;160 2029 11600 18754 19936)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808T	1						.	G	CYS/ARG	0,4406		0,0,2203	173.0	157.0	163.0		808	-0.9	0.0	1		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZP4	NM_021186.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	270/541	238050102	1,13005	2203	4300	6503	236116725	SO:0001583	missense	57829	exon6			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.808C>T	1.37:g.238050102G>A	ENSP00000355529:p.Arg270Cys		236116725	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632956	0.47049	0.0	1.16E-4	ENSG00000116996	ENST00000366570	D	0.82433	-1.61	4.96	-0.865	0.10662	Zona pellucida sperm-binding protein (3);	0.666723	0.13728	N	0.366904	T	0.81230	0.4779	L	0.61218	1.895	0.09310	N	1	D	0.58970	0.984	P	0.52386	0.697	T	0.69989	-0.4995	10	0.45353	T	0.12	-0.2781	3.3005	0.06982	0.0861:0.3789:0.2562:0.2789	.	270	Q12836	ZP4_HUMAN	C	270	ENSP00000355529:R270C	ENSP00000355529:R270C	R	-	1	0	ZP4	236116725	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.221000	0.17680	-0.133000	0.11537	-0.152000	0.13540	CGT		0.483	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
ASAP3	55616	broad.mit.edu	37	1	23765719	23765719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:23765719G>A	ENST00000336689.3	-	11	993	c.949C>T	c.(949-951)Cga>Tga	p.R317*	ASAP3_ENST00000495646.1_5'Flank|ASAP3_ENST00000437606.2_Nonsense_Mutation_p.R308*	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	317	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R317*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAGACTCTTCGAATTCTAAAG	0.532																																					p.R308X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C922T	1						.						93.0	75.0	81.0					1																	23765719		2203	4300	6503	23638306	SO:0001587	stop_gained	55616	exon10			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.949C>T	1.37:g.23765719G>A	ENSP00000338769:p.Arg317*		23638306	NM_001143778	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Nonsense_Mutation	SNP	ENST00000336689.3	37	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	38	6.713978	0.97784	.	.	ENSG00000088280	ENST00000336689;ENST00000437606	.	.	.	4.94	2.99	0.34606	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8906	0.58069	0.0:0.0:0.7037:0.2963	.	.	.	.	X	317;308	.	ENSP00000338769:R317X	R	-	1	2	ASAP3	23638306	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	3.083000	0.50136	0.756000	0.33013	-0.187000	0.12897	CGA		0.532	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707	
RPL11	6135	broad.mit.edu	37	1	24022387	24022387	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24022387T>C	ENST00000374550.3	+	5	541	c.496T>C	c.(496-498)Ttc>Ctc	p.F166L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	166					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.F166L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGCTGGTTCCAGCAGAA	0.493																																					p.F166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T496C	1						.						63.0	51.0	55.0					1																	24022387		2201	4297	6498	23894974	SO:0001583	missense	6135	exon5			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.496T>C	1.37:g.24022387T>C	ENSP00000363676:p.Phe166Leu		23894974	NM_000975	P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905419	0.92107	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	T;T	0.75589	-0.95;-0.95	5.19	5.19	0.71726	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.68952	2.095	0.80722	D	1	B;B	0.19445	0.036;0.034	B;B	0.35607	0.206;0.142	T	0.73474	-0.3971	10	0.34782	T	0.22	-14.1085	15.0495	0.71854	0.0:0.0:0.0:1.0	.	165;166	P62913-2;P62913	.;RL11_HUMAN	L	166;164	ENSP00000363676:F166L;ENSP00000398888:F164L	ENSP00000363676:F166L	F	+	1	0	RPL11	23894974	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.829000	0.86735	1.962000	0.57031	0.482000	0.46254	TTC		0.493	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	
ZP4	57829	broad.mit.edu	37	1	238051678	238051678	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:238051678G>T	ENST00000366570.4	-	4	691	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	178	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.S178F(1)|p.S178Y(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATAGTAGCAGGAATTCACCTC	0.507																																					p.S178Y	NSCLC(166;160 2029 11600 18754 19936)											.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C533A	1						.						129.0	109.0	116.0					1																	238051678		2203	4300	6503	236118301	SO:0001583	missense	57829	exon4			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.533C>A	1.37:g.238051678G>T	ENSP00000355529:p.Ser178Tyr		236118301	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	3.652	-0.071393	0.07228	.	.	ENSG00000116996	ENST00000366570	T	0.54479	0.57	4.98	3.1	0.35709	P-type trefoil (5);	0.445538	0.23993	N	0.042554	T	0.33876	0.0878	N	0.25890	0.77	0.24084	N	0.995933	B	0.14805	0.011	B	0.27608	0.081	T	0.30268	-0.9984	10	0.02654	T	1	-10.9002	9.1251	0.36810	0.1792:0.0:0.8208:0.0	.	178	Q12836	ZP4_HUMAN	Y	178	ENSP00000355529:S178Y	ENSP00000355529:S178Y	S	-	2	0	ZP4	236118301	0.993000	0.37304	0.762000	0.31397	0.144000	0.21451	2.701000	0.47094	0.493000	0.27837	0.655000	0.94253	TCC		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
RGS7	6000	broad.mit.edu	37	1	240966210	240966210	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:240966210C>A	ENST00000407727.1	-	15	1352	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N	RGS7_ENST00000366564.1_Missense_Mutation_p.K451N|RGS7_ENST00000366563.1_Missense_Mutation_p.K451N|RGS7_ENST00000366565.1_Missense_Mutation_p.K451N|RGS7_ENST00000446183.2_Missense_Mutation_p.K367N|RGS7_ENST00000331110.7_Missense_Mutation_p.K425N|RGS7_ENST00000348120.2_Missense_Mutation_p.K398N|RGS7_ENST00000366562.4_Missense_Mutation_p.K451N|RGS7_ENST00000401882.1_Missense_Mutation_p.K398N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	451					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.K451N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTACCTTTTTCTTTGCCTGTA	0.363																																					p.K451N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1353T	1						.						124.0	134.0	130.0					1																	240966210		2203	4300	6503	239032833	SO:0001583	missense	6000	exon16			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1353G>T	1.37:g.240966210C>A	ENSP00000384428:p.Lys451Asn		239032833	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	C	20.8	4.054397	0.75960	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.35048	1.46;1.49;1.46;1.45;1.33;1.45;1.46;1.46;1.49;1.45	6.04	6.04	0.98038	.	0.090164	0.85682	D	0.000000	T	0.40448	0.1117	N	0.19112	0.55	0.58432	D	0.999999	P;P;D;P;D;P;P	0.59357	0.749;0.749;0.985;0.837;0.975;0.523;0.749	B;B;P;P;P;B;B	0.60473	0.412;0.434;0.856;0.617;0.875;0.433;0.412	T	0.12578	-1.0542	10	0.40728	T	0.16	.	12.8339	0.57761	0.0:0.9264:0.0:0.0736	.	367;425;398;451;451;451;451	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	N	425;451;451;451;282;398;367;451;451;398	ENSP00000331485:K425N;ENSP00000355523:K451N;ENSP00000355522:K451N;ENSP00000355521:K451N;ENSP00000404399:K282N;ENSP00000341242:K398N;ENSP00000390138:K367N;ENSP00000355520:K451N;ENSP00000384428:K451N;ENSP00000385508:K398N	ENSP00000331485:K425N	K	-	3	2	RGS7	239032833	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.959000	0.63666	2.873000	0.98535	0.563000	0.77884	AAG		0.363	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
RGS7	6000	broad.mit.edu	37	1	240978044	240978044	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:240978044G>A	ENST00000407727.1	-	11	816	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	RGS7_ENST00000366564.1_Missense_Mutation_p.R273W|RGS7_ENST00000366563.1_Missense_Mutation_p.R273W|RGS7_ENST00000366565.1_Missense_Mutation_p.R273W|RGS7_ENST00000446183.2_Missense_Mutation_p.R189W|RGS7_ENST00000331110.7_Missense_Mutation_p.R247W|RGS7_ENST00000348120.2_Missense_Mutation_p.R220W|RGS7_ENST00000366562.4_Missense_Mutation_p.R273W|RGS7_ENST00000401882.1_Missense_Mutation_p.R220W			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	273	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R273W(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATTTTTAACCGATGTCTATCT	0.289																																					p.R273W												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C817T	1						.						111.0	115.0	113.0					1																	240978044		2203	4298	6501	239044667	SO:0001583	missense	6000	exon12			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.817C>T	1.37:g.240978044G>A	ENSP00000384428:p.Arg273Trp		239044667	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	G	21.4	4.140656	0.77775	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.06	6.06	0.98353	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.50333	1.59	0.58432	D	0.999993	D;D;D;D;D;P;D	0.89917	0.997;0.999;0.999;0.997;1.0;0.473;0.999	P;D;D;D;D;B;D	0.70016	0.892;0.93;0.944;0.913;0.963;0.118;0.967	T	0.41431	-0.9509	10	0.40728	T	0.16	-13.0511	9.3859	0.38342	0.0723:0.0:0.7831:0.1446	.	189;247;220;273;273;273;273	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	W	247;273;273;273;104;220;189;273;273;220	ENSP00000331485:R247W;ENSP00000355523:R273W;ENSP00000355522:R273W;ENSP00000355521:R273W;ENSP00000404399:R104W;ENSP00000341242:R220W;ENSP00000390138:R189W;ENSP00000355520:R273W;ENSP00000384428:R273W;ENSP00000385508:R220W	ENSP00000331485:R247W	R	-	1	2	RGS7	239044667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.069000	0.57541	2.882000	0.98803	0.655000	0.94253	CGG		0.289	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
FH	2271	broad.mit.edu	37	1	241669400	241669400	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241669400G>T	ENST00000366560.3	-	6	845	c.807C>A	c.(805-807)atC>atA	p.I269I		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	269					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.I269I(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CGAGCTCATAGATTCTTGGCA	0.378			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												p.I269I	Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807A	1						.						107.0	107.0	107.0					1																	241669400		2203	4300	6503	239736023	SO:0001819	synonymous_variant	2271	exon6	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.807C>A	1.37:g.241669400G>T			239736023	NM_000143	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																				0.378	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
FH	2271	broad.mit.edu	37	1	241675354	241675354	+	Silent	SNP	G	G	A	rs202061330		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241675354G>A	ENST00000366560.3	-	4	506	c.468C>T	c.(466-468)gtC>gtT	p.V156V	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	156					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)	p.V156V(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TATTGCTAATGACTTCATTTA	0.393			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												p.V156V	Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	1						.						215.0	194.0	201.0					1																	241675354		2203	4300	6503	239741977	SO:0001819	synonymous_variant	2271	exon4	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.468C>T	1.37:g.241675354G>A			239741977	NM_000143	B1ANK7	Silent	SNP	ENST00000366560.3	37	CCDS1617.1																																																																																				0.393	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
KMO	8564	broad.mit.edu	37	1	241750008	241750008	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241750008G>A	ENST00000366559.4	+	11	1296	c.985G>A	c.(985-987)Gag>Aag	p.E329K	KMO_ENST00000366557.4_Missense_Mutation_p.E329K|KMO_ENST00000366558.3_Missense_Mutation_p.E329K	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.E329K(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGTATTTGATGAGTTAATGGA	0.313																																					p.E329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	1						.						124.0	123.0	123.0					1																	241750008		2203	4300	6503	239816631	SO:0001583	missense	8564	exon11			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.985G>A	1.37:g.241750008G>A	ENSP00000355517:p.Glu329Lys		239816631	NM_003679		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591903	0.96590	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.46451	0.87;0.87;0.87	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.78285	2.405	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.68483	0.958;0.934;0.929	T	0.66312	-0.5955	10	0.62326	D	0.03	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	329;329;329	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	K	329	ENSP00000355517:E329K;ENSP00000355516:E329K;ENSP00000355515:E329K	ENSP00000355515:E329K	E	+	1	0	KMO	239816631	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.106000	0.89555	2.941000	0.99782	0.655000	0.94253	GAG		0.313	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
KMO	8564	broad.mit.edu	37	1	241752099	241752099	+	Silent	SNP	G	G	A	rs566876281		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241752099G>A	ENST00000366559.4	+	12	1376	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	KMO_ENST00000366557.4_Silent_p.A355A|KMO_ENST00000366558.3_Silent_p.A355A	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.A355A(3)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATGATCACGCGATTTCAGACC	0.363																																					p.A355A												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1065A	1						.						182.0	168.0	173.0					1																	241752099		2203	4300	6503	239818722	SO:0001819	synonymous_variant	8564	exon12			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1065G>A	1.37:g.241752099G>A			239818722	NM_003679		Silent	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	1.302	-0.604681	0.03717	.	.	ENSG00000117009	ENST00000366555	.	.	.	6.06	-8.99	0.00751	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53528	-0.8426	4	.	.	.	.	7.579	0.27952	0.3432:0.3067:0.3501:0.0	.	.	.	.	N	41	.	.	D	+	1	0	KMO	239818722	0.000000	0.05858	0.279000	0.24732	0.059000	0.15707	-5.767000	0.00099	-1.532000	0.01747	-1.619000	0.00793	GAT		0.363	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
WDR64	128025	broad.mit.edu	37	1	241901737	241901737	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241901737G>A	ENST00000366552.2	+	10	1444	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	WDR64_ENST00000437684.2_Missense_Mutation_p.D413N	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	413								p.D133N(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGGACCAGGAGACATGCAGAT	0.398																																					p.D413N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	1						.						125.0	117.0	120.0					1																	241901737		2203	4300	6503	239968360	SO:0001583	missense	128025	exon10			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1237G>A	1.37:g.241901737G>A	ENSP00000355510:p.Asp413Asn		239968360	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	G	26.6	4.754556	0.89843	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.46451	1.0;1.04;0.87	5.95	5.95	0.96441	.	0.246636	0.36268	N	0.002683	T	0.56247	0.1972	L	0.46157	1.445	0.40865	D	0.983862	D	0.76494	0.999	D	0.64144	0.922	T	0.49143	-0.8970	10	0.35671	T	0.21	-28.0715	17.2915	0.87158	0.0:0.0:1.0:0.0	.	133	D1MPS4	.	N	413;413;184	ENSP00000355510:D413N;ENSP00000402446:D413N;ENSP00000406656:D184N	ENSP00000355510:D413N	D	+	1	0	WDR64	239968360	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.849000	0.69465	2.817000	0.96982	0.563000	0.77884	GAC		0.398	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
WDR64	128025	broad.mit.edu	37	1	241946640	241946640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:241946640G>T	ENST00000366552.2	+	22	2839	c.2632G>T	c.(2632-2634)Gaa>Taa	p.E878*	WDR64_ENST00000437684.2_Nonsense_Mutation_p.E711*	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	878								p.E431*(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTATGTAGAAGAAAAACAAGT	0.413																																					p.E878X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2632T	1						.						76.0	74.0	75.0					1																	241946640		2203	4300	6503	240013263	SO:0001587	stop_gained	128025	exon22			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2632G>T	1.37:g.241946640G>T	ENSP00000355510:p.Glu878*		240013263	NM_144625	B1ANT0|Q7Z573|Q96LY9	Nonsense_Mutation	SNP	ENST00000366552.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.759542|8.759542	0.98943|0.98943	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.793281|.	0.11828|.	N|.	0.525520|.	.|T	.|0.73776	.|0.3630	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72510	.|-0.4271	.|3	0.56958|.	D|.	0.05|.	-0.8861|-0.8861	17.0121|17.0121	0.86409|0.86409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	878;711;482|356	.|.	ENSP00000355510:E878X|.	E|K	+|+	1|3	0|2	WDR64|WDR64	240013263|240013263	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.829000|0.829000	0.46940|0.46940	3.891000|3.891000	0.56227|0.56227	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.413	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
FUCA1	2517	broad.mit.edu	37	1	24180867	24180867	+	Nonsense_Mutation	SNP	C	C	A	rs201499886		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24180867C>A	ENST00000374479.3	-	5	959	c.952G>T	c.(952-954)Gaa>Taa	p.E318*		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	318					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.E318*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		ATTTCAGATTCTTCTGTAACA	0.373																																					p.E318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G952T	1						.						120.0	122.0	121.0					1																	24180867		2203	4300	6503	24053454	SO:0001587	stop_gained	2517	exon5			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.952G>T	1.37:g.24180867C>A	ENSP00000363603:p.Glu318*		24053454	NM_000147	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Nonsense_Mutation	SNP	ENST00000374479.3	37	CCDS244.2	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585463	0.66105	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	.	.	.	4.77	2.81	0.32909	.	0.486350	0.23549	N	0.046990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-13.6033	9.4182	0.38534	0.1426:0.7822:0.0:0.0752	.	.	.	.	X	318;107	.	ENSP00000363599:E107X	E	-	1	0	FUCA1	24053454	0.001000	0.12720	0.005000	0.12908	0.185000	0.23345	0.737000	0.26144	1.244000	0.43870	0.637000	0.83480	GAA		0.373	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
FUCA1	2517	broad.mit.edu	37	1	24181028	24181028	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24181028C>T	ENST00000374479.3	-	5	798	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	264					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.R264Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CTGACCCCATCGGTCATTTAC	0.433																																					p.R264Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	1						.						108.0	105.0	106.0					1																	24181028		2203	4300	6503	24053615	SO:0001583	missense	2517	exon5			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.791G>A	1.37:g.24181028C>T	ENSP00000363603:p.Arg264Gln		24053615	NM_000147	B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	CCDS244.2	.	.	.	.	.	.	.	.	.	.	c	33	5.276972	0.95459	.	.	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.70631	-0.5	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92464	0.5980	10	0.87932	D	0	-13.9177	17.9954	0.89182	0.0:1.0:0.0:0.0	.	264	P04066	FUCO_HUMAN	Q	264;53	ENSP00000363603:R264Q	ENSP00000363599:R53Q	R	-	2	0	FUCA1	24053615	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.275000	0.78548	2.477000	0.83638	0.632000	0.83419	CGA		0.433	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	
PLD5	200150	broad.mit.edu	37	1	242263996	242263996	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:242263996A>G	ENST00000536534.2	-	9	1569	c.1328T>C	c.(1327-1329)aTg>aCg	p.M443T	PLD5_ENST00000442594.2_Missense_Mutation_p.M351T|PLD5_ENST00000427495.1_Missense_Mutation_p.M381T			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	443	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.M351T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCTGTCACCATGTACTTGTT	0.453																																					p.M381T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1142C	1						.						239.0	199.0	213.0					1																	242263996		2203	4300	6503	240330619	SO:0001583	missense	200150	exon9			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1328T>C	1.37:g.242263996A>G	ENSP00000440896:p.Met443Thr		240330619	NM_001195811	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518336	0.44763	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.25085	1.82;1.82;1.82	5.64	4.47	0.54385	Phospholipase D/Transphosphatidylase (1);	0.078359	0.85682	D	0.000000	T	0.28995	0.0720	M	0.77712	2.385	0.46167	D	0.998903	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.36608	0.229;0.115;0.124	T	0.24333	-1.0163	10	0.87932	D	0	-22.0619	10.5932	0.45321	0.8572:0.0:0.0:0.1428	.	351;443;381	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	T	381;351;443	ENSP00000401285:M381T;ENSP00000414188:M351T;ENSP00000440896:M443T	ENSP00000401285:M381T	M	-	2	0	PLD5	240330619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.843000	0.69424	2.153000	0.67306	0.528000	0.53228	ATG		0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666	
CEP170	9859	broad.mit.edu	37	1	243329107	243329107	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:243329107G>T	ENST00000366542.1	-	13	2206	c.2155C>A	c.(2155-2157)Cta>Ata	p.L719I	RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.L621I|CEP170_ENST00000366544.1_Missense_Mutation_p.L621I	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	719						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.L719I(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGTGAAGTAGGGTTTTATTA	0.388																																					p.L621I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1861A	1						.						141.0	130.0	133.0					1																	243329107		1830	4076	5906	241395730	SO:0001583	missense	9859	exon12			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2155C>A	1.37:g.243329107G>T	ENSP00000355500:p.Leu719Ile		241395730	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	0.701	-0.790903	0.02884	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543	T;T;T	0.45276	0.94;0.91;0.9	5.01	4.1	0.47936	.	0.361869	0.23360	N	0.049033	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	0.999999	P;P;P;P	0.39862	0.692;0.545;0.545;0.593	B;B;B;B	0.35114	0.167;0.107;0.196;0.098	T	0.07177	-1.0786	10	0.37606	T	0.19	-0.2483	6.6337	0.22872	0.2863:0.0:0.7137:0.0	.	682;621;621;719	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	I	719;621;621	ENSP00000355500:L719I;ENSP00000355502:L621I;ENSP00000355501:L621I	ENSP00000355500:L719I	L	-	1	2	CEP170	241395730	0.697000	0.27767	0.040000	0.18447	0.216000	0.24613	2.004000	0.40854	1.116000	0.41820	-0.350000	0.07774	CTA		0.388	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP170	9859	broad.mit.edu	37	1	243354730	243354730	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:243354730G>T	ENST00000366542.1	-	8	749	c.698C>A	c.(697-699)cCt>cAt	p.P233H	CEP170_ENST00000366543.1_Missense_Mutation_p.P233H|CEP170_ENST00000366544.1_Missense_Mutation_p.P233H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	233						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.P233H(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCTACAGAAAGGAAAAAGTAC	0.358																																					p.P233H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C698A	1						.						18.0	15.0	16.0					1																	243354730		1760	4009	5769	241421353	SO:0001583	missense	9859	exon8			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.698C>A	1.37:g.243354730G>T	ENSP00000355500:p.Pro233His		241421353	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.445249|3.445249	0.63178|0.63178	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.381500	.|0.28653	.|N	.|0.014598	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.997;0.999	.|D;D;P	.|0.77004	.|0.989;0.983;0.864	T|T	0.38001|0.38001	-0.9681|-0.9681	5|10	.|0.54805	.|T	.|0.06	-15.2249|-15.2249	11.5908|11.5908	0.50945|0.50945	0.0814:0.0:0.9186:0.0|0.0814:0.0:0.9186:0.0	.|.	.|233;233;233	.|Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;CE170_HUMAN	I|H	135|233;233;233;131	.|ENSP00000355500:P233H;ENSP00000355502:P233H;ENSP00000355501:P233H	.|ENSP00000355500:P233H	L|P	-|-	1|2	0|0	CEP170|CEP170	241421353|241421353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.588000|3.588000	0.53964|0.53964	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	CTT|CCT		0.358	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP170	9859	broad.mit.edu	37	1	243363931	243363931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:243363931C>A	ENST00000366542.1	-	6	436	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	CEP170_ENST00000366543.1_Nonsense_Mutation_p.E129*|CEP170_ENST00000366544.1_Nonsense_Mutation_p.E129*	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	129						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.E129*(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGGATAATTCTGATTCTGAA	0.373																																					p.E129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G385T	1						.						5.0	4.0	4.0					1																	243363931		1652	3724	5376	241430554	SO:0001587	stop_gained	9859	exon6			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.385G>T	1.37:g.243363931C>A	ENSP00000355500:p.Glu129*		241430554	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Nonsense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.443603|3.443603	0.63067|0.63067	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081;ENST00000522191|ENST00000336415	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.139948|.	0.49305|.	D|.	0.000147|.	.|T	.|0.74465	.|0.3720	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73864	.|-0.3848	.|4	0.23302|.	T|.	0.38|.	-20.0422|-20.0422	18.5737|18.5737	0.91147|0.91147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	129;129;129;27;129|30	.|.	ENSP00000355500:E129X|.	E|Q	-|-	1|3	0|2	CEP170|CEP170	241430554|241430554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	2.974000|2.974000	0.49272|0.49272	2.469000|2.469000	0.83416|0.83416	0.555000|0.555000	0.69702|0.69702	GAA|CAG		0.373	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
SDCCAG8	10806	broad.mit.edu	37	1	243471469	243471469	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:243471469A>C	ENST00000366541.3	+	8	1037	c.919A>C	c.(919-921)Aga>Cga	p.R307R	SDCCAG8_ENST00000391846.1_Silent_p.R307R|SDCCAG8_ENST00000355875.4_Silent_p.R264R|SDCCAG8_ENST00000343783.6_Silent_p.R162R	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	307	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.R307R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GACCATCGAAAGACTGGTTAA	0.418																																					p.R307R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A919C	1						.						209.0	178.0	189.0					1																	243471469		2203	4300	6503	241538092	SO:0001819	synonymous_variant	10806	exon8			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.919A>C	1.37:g.243471469A>C			241538092	NM_006642	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	CCDS31075.1																																																																																				0.418	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	
AKT3	10000	broad.mit.edu	37	1	243809199	243809199	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:243809199C>A	ENST00000366539.1	-	5	625	c.425G>T	c.(424-426)aGa>aTa	p.R142I	AKT3_ENST00000366540.1_Missense_Mutation_p.R142I|AKT3_ENST00000336199.5_Missense_Mutation_p.R142I|AKT3_ENST00000263826.5_Missense_Mutation_p.R142I			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	142					mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R142I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTCTACCTTTCTTTTATGATG	0.373																																					p.R142I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425T	1						.						182.0	182.0	182.0					1																	243809199		2203	4300	6503	241875822	SO:0001583	missense	10000	exon4			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.425G>T	1.37:g.243809199C>A	ENSP00000355497:p.Arg142Ile		241875822	NM_181690	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335386	0.60853	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.24	5.24	0.73138	Protein kinase-like domain (1);	0.052296	0.85682	D	0.000000	T	0.25158	0.0611	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.002;0.006	B;B	0.16289	0.007;0.015	T	0.08146	-1.0736	10	0.87932	D	0	.	12.2184	0.54420	0.0:0.9222:0.0:0.0778	.	142;142	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	I	142	ENSP00000336943:R142I;ENSP00000355498:R142I;ENSP00000355497:R142I;ENSP00000263826:R142I	ENSP00000263826:R142I	R	-	2	0	AKT3	241875822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.636000	0.54317	2.442000	0.82660	0.591000	0.81541	AGA		0.373	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690	
ADSS	159	broad.mit.edu	37	1	244574618	244574618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:244574618C>T	ENST00000366535.3	-	12	1605	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.R430Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTCAATAAATCGAACATAGTT	0.318																																					p.R430Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	1						.						138.0	134.0	135.0					1																	244574618		2203	4299	6502	242641241	SO:0001583	missense	159	exon12			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1289G>A	1.37:g.244574618C>T	ENSP00000355493:p.Arg430Gln		242641241	NM_001126		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660347	0.47572	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.41758	0.99	5.81	2.57	0.30868	.	0.222912	0.47852	D	0.000210	T	0.28797	0.0714	L	0.37507	1.11	0.54753	D	0.999983	B	0.27264	0.173	B	0.15870	0.014	T	0.16247	-1.0409	10	0.49607	T	0.09	-8.9745	9.0199	0.36193	0.1251:0.7304:0.0:0.1445	.	430	P30520	PURA2_HUMAN	Q	430;409	ENSP00000355493:R430Q	ENSP00000355493:R430Q	R	-	2	0	ADSS	242641241	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.065000	0.49994	1.455000	0.47813	0.650000	0.86243	CGA		0.318	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
C1orf101	257044	broad.mit.edu	37	1	244724243	244724243	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:244724243G>T	ENST00000366534.4	+	10	1357	c.1303G>T	c.(1303-1305)Gac>Tac	p.D435Y	C1orf101_ENST00000366531.3_Missense_Mutation_p.D284Y|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.D435Y	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	435						CatSper complex (GO:0036128)		p.D435H(2)|p.D435Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTTCCCAAGACTTTACATT	0.358																																					p.D435Y												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1303T	1						.						126.0	127.0	127.0					1																	244724243		2203	4300	6503	242790866	SO:0001583	missense	257044	exon10			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1303G>T	1.37:g.244724243G>T	ENSP00000355492:p.Asp435Tyr		242790866	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148030	0.37923	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.08	5.08	0.68730	.	0.288330	0.29321	N	0.012485	T	0.53753	0.1816	L	0.54323	1.7	0.27802	N	0.942469	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.68765	0.941;0.96;0.96	T	0.50566	-0.8813	10	0.87932	D	0	.	14.3098	0.66407	0.0:0.0:1.0:0.0	.	355;435;435	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	Y	435;435;435;355;284	ENSP00000355492:D435Y;ENSP00000355491:D435Y;ENSP00000395796:D355Y;ENSP00000355489:D284Y	ENSP00000355489:D284Y	D	+	1	0	C1orf101	242790866	1.000000	0.71417	0.985000	0.45067	0.009000	0.06853	1.714000	0.37961	2.508000	0.84585	0.655000	0.94253	GAC		0.358	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
DESI2	51029	broad.mit.edu	37	1	244855279	244855279	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:244855279T>G	ENST00000302550.11	+	4	687	c.308T>G	c.(307-309)tTa>tGa	p.L103*	DESI2_ENST00000263831.7_Nonsense_Mutation_p.L70*	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	103	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)	p.L103*(1)									GCTTATCATTTAATGCATAAA	0.318																																					p.L103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T308G	1						.						62.0	67.0	65.0					1																	244855279		2203	4291	6494	242921902	SO:0001587	stop_gained	51029	exon4			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.308T>G	1.37:g.244855279T>G	ENSP00000306528:p.Leu103*		242921902	NM_016076	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Nonsense_Mutation	SNP	ENST00000302550.11	37	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	T	35	5.471082	0.96274	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	.	.	.	X	103;70	.	ENSP00000263831:L70X	L	+	2	0	PPPDE1	242921902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.668000	0.83897	2.291000	0.77112	0.533000	0.62120	TTA		0.318	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076	
IL22RA1	58985	broad.mit.edu	37	1	24465083	24465083	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24465083G>A	ENST00000270800.1	-	2	203	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	55	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)	p.I55I(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCTTATACTCGATGCTGTAGA	0.552																																					p.I55I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	1						.						106.0	101.0	102.0					1																	24465083		2203	4300	6503	24337670	SO:0001819	synonymous_variant	58985	exon2			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.165C>T	1.37:g.24465083G>A			24337670	NM_021258	A8K839|B2R9Y9|Q9HB22	Silent	SNP	ENST00000270800.1	37	CCDS247.1																																																																																				0.552	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1		
DESI2	51029	broad.mit.edu	37	1	244868861	244868861	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:244868861C>A	ENST00000302550.11	+	5	734	c.355C>A	c.(355-357)Ctt>Att	p.L119I	DESI2_ENST00000263831.7_Missense_Mutation_p.L86I	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2	119	PPPDE peptidase.					cytoplasm (GO:0005737)	peptidase activity (GO:0008233)	p.L119I(1)									TCTGTAGATTCTTTGTGGGAA	0.522																																					p.L119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355A	1						.						91.0	97.0	95.0					1																	244868861		2203	4300	6503	242935484	SO:0001583	missense	51029	exon5			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.355C>A	1.37:g.244868861C>A	ENSP00000306528:p.Leu119Ile		242935484	NM_016076	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Missense_Mutation	SNP	ENST00000302550.11	37	CCDS1626.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794453	0.70452	.	.	ENSG00000121644	ENST00000302550;ENST00000263831	.	.	.	6.16	6.16	0.99307	Domain of unknown function DUF862, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88704	2.975	0.58432	D	0.999999	D;D	0.62365	0.988;0.991	D;D	0.68353	0.944;0.957	D	0.86149	0.1586	9	0.66056	D	0.02	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	86;119	Q9BSY9-2;Q9BSY9	.;PPDE1_HUMAN	I	119;86	.	ENSP00000263831:L86I	L	+	1	0	PPPDE1	242935484	0.998000	0.40836	0.996000	0.52242	0.806000	0.45545	3.258000	0.51507	2.937000	0.99478	0.650000	0.86243	CTT		0.522	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097168.1	NM_016076	
SMYD3	64754	broad.mit.edu	37	1	246091253	246091253	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:246091253C>T	ENST00000388985.4	-	7	681	c.682G>A	c.(682-684)Gac>Aac	p.D228N	SMYD3_ENST00000490107.1_Missense_Mutation_p.D169N|SMYD3_ENST00000541742.1_Missense_Mutation_p.D169N|SMYD3_ENST00000366517.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	228	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.D169N(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ACCTCGATGTCTCGGACTGCT	0.517																																					p.D169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	1						.						77.0	71.0	73.0					1																	246091253		2203	4300	6503	244157876	SO:0001583	missense	64754	exon7			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.682G>A	1.37:g.246091253C>T	ENSP00000373637:p.Asp228Asn		244157876	NM_022743	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201468	0.22121	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000544586;ENST00000388985;ENST00000391836	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.66	4.74	0.60224	SET domain (3);	0.417225	0.27941	N	0.017238	T	0.76983	0.4064	L	0.43701	1.375	0.40486	D	0.980493	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.71279	-0.4640	10	0.23302	T	0.38	-18.2689	15.0019	0.71479	0.0:0.9306:0.0:0.0694	.	228;39	Q9H7B4;B3KN46	SMYD3_HUMAN;.	N	169;169;58;228;39	ENSP00000444184:D169N;ENSP00000419184:D169N;ENSP00000373637:D228N;ENSP00000375712:D39N	ENSP00000373637:D228N	D	-	1	0	SMYD3	244157876	0.993000	0.37304	0.289000	0.24876	0.103000	0.19146	3.313000	0.51935	2.656000	0.90262	0.655000	0.94253	GAC		0.517	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
SMYD3	64754	broad.mit.edu	37	1	246493821	246493821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:246493821C>A	ENST00000388985.4	-	4	354	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	SMYD3_ENST00000490107.1_Nonsense_Mutation_p.E60*|SMYD3_ENST00000541742.1_Nonsense_Mutation_p.E60*|SMYD3_ENST00000403792.3_Nonsense_Mutation_p.E119*			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	119	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.E60*(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TTCTCTGATTCTGAAGGTGCT	0.338																																					p.E60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G178T	1						.						70.0	74.0	73.0					1																	246493821		2203	4299	6502	244560444	SO:0001587	stop_gained	64754	exon4			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.355G>T	1.37:g.246493821C>A	ENSP00000373637:p.Glu119*		244560444	NM_022743	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Nonsense_Mutation	SNP	ENST00000388985.4	37	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641517	0.87859	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	.	.	.	5.33	4.35	0.52113	.	0.521212	0.18582	N	0.136990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.8061	12.1752	0.54182	0.0:0.7451:0.2549:0.0	.	.	.	.	X	60;60;119;60;119;60	.	ENSP00000373637:E119X	E	-	1	0	SMYD3	244560444	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	1.989000	0.40707	2.663000	0.90544	0.650000	0.86243	GAA		0.338	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
TFB2M	64216	broad.mit.edu	37	1	246729180	246729180	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:246729180G>T	ENST00000366514.4	-	1	446	c.261C>A	c.(259-261)atC>atA	p.I87I	TFB2M_ENST00000544618.1_Silent_p.I87I|CNST_ENST00000366513.4_5'Flank|CNST_ENST00000366512.3_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	87					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.I87I(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCCCAAATAGATTTGCGCCA	0.473																																					p.I87I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261A	1						.						86.0	89.0	88.0					1																	246729180		2203	4300	6503	244795803	SO:0001819	synonymous_variant	64216	exon1			AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.261C>A	1.37:g.246729180G>T			244795803	NM_022366	Q9H626	Silent	SNP	ENST00000366514.4	37	CCDS1627.1																																																																																				0.473	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366	
CNST	163882	broad.mit.edu	37	1	246784781	246784781	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:246784781G>A	ENST00000366513.4	+	3	699	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.A144T	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	144					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.A144T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGTACTAAGCGCAGTCACATA	0.393																																					p.A144T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	1						.						203.0	209.0	207.0					1																	246784781		2203	4300	6503	244851404	SO:0001583	missense	163882	exon3			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.430G>A	1.37:g.246784781G>A	ENSP00000355470:p.Ala144Thr		244851404	NM_152609	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783110	0.31593	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.19105	2.18;2.17	5.46	4.44	0.53790	.	0.799329	0.11228	N	0.585928	T	0.11965	0.0291	L	0.39898	1.24	0.32098	N	0.590941	P;P	0.38978	0.652;0.652	B;B	0.26517	0.07;0.07	T	0.03993	-1.0986	10	0.16420	T	0.52	-1.9637	5.18	0.15156	0.1993:0.0:0.8007:0.0	.	144;144	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	T	144	ENSP00000355470:A144T;ENSP00000355469:A144T	ENSP00000355469:A144T	A	+	1	0	CNST	244851404	0.035000	0.19736	0.031000	0.17742	0.130000	0.20726	0.977000	0.29475	2.551000	0.86045	0.655000	0.94253	GCA		0.393	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609	
STPG1	90529	broad.mit.edu	37	1	24687483	24687483	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24687483C>T	ENST00000374409.1	-	8	1040	c.786G>A	c.(784-786)ccG>ccA	p.P262P	STPG1_ENST00000440416.1_Silent_p.P215P|STPG1_ENST00000337248.4_Silent_p.P262P|STPG1_ENST00000468303.1_5'UTR|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_Silent_p.P215P	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	262					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P215P(1)									AAGGTGGCTTCGGAGGCAGAG	0.517																																					p.P262P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	1						.						73.0	69.0	70.0					1																	24687483		2203	4300	6503	24560070	SO:0001819	synonymous_variant	90529	exon8			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.786G>A	1.37:g.24687483C>T			24560070	NM_001199013	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Silent	SNP	ENST00000374409.1	37	CCDS55581.1																																																																																				0.517	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	
ZNF670	93474	broad.mit.edu	37	1	247201111	247201111	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247201111T>C	ENST00000366503.2	-	4	968	c.810A>G	c.(808-810)atA>atG	p.I270M		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	270					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.I270M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTCTTTCATGTATTCCCAAGT	0.423																																					p.I270M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A810G	1						.						121.0	120.0	120.0					1																	247201111		2203	4300	6503	245267734	SO:0001583	missense	93474	exon4				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.810A>G	1.37:g.247201111T>C	ENSP00000355459:p.Ile270Met		245267734	NM_033213		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	T	1.011	-0.687986	0.03328	.	.	ENSG00000135747	ENST00000366503	T	0.07567	3.18	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.28400	0.85	0.19575	N	0.999965	B	0.31383	0.321	B	0.33568	0.166	T	0.39210	-0.9625	9	0.41790	T	0.15	.	2.6854	0.05106	0.0:0.3462:0.0:0.6538	.	270	Q9BS34	ZN670_HUMAN	M	270	ENSP00000355459:I270M	ENSP00000355459:I270M	I	-	3	3	ZNF670	245267734	0.000000	0.05858	0.014000	0.15608	0.070000	0.16714	-5.228000	0.00139	0.508000	0.28173	0.383000	0.25322	ATA		0.423	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	
NLRP3	114548	broad.mit.edu	37	1	247586591	247586591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247586591G>T	ENST00000336119.3	+	2	1089	c.343G>T	c.(343-345)Gag>Tag	p.E115*	NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E115*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.E115*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E115*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E115*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E115*	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	115					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E115*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCATTGAAGAGGAGTGGAT	0.408																																					p.E115X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G343T	1						.						213.0	209.0	211.0					1																	247586591		2203	4300	6503	245653214	SO:0001587	stop_gained	114548	exon2			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.343G>T	1.37:g.247586591G>T	ENSP00000337383:p.Glu115*		245653214	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	39	7.906537	0.98554	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	4.1	4.1	0.47936	.	0.000000	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	12.1447	0.54016	0.0:0.0:1.0:0.0	.	.	.	.	X	115	.	ENSP00000337383:E115X	E	+	1	0	NLRP3	245653214	0.998000	0.40836	0.943000	0.38184	0.114000	0.19823	3.110000	0.50352	2.587000	0.87381	0.655000	0.94253	GAG		0.408	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247599321	247599321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247599321G>T	ENST00000336119.3	+	6	3294	c.2548G>T	c.(2548-2550)Gta>Tta	p.V850L	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.V850L|NLRP3_ENST00000391827.2_Missense_Mutation_p.V793L|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	850					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.V850L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTTGCATCAGTATTGAGCAC	0.502																																					p.V850L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2548T	1						.						130.0	108.0	116.0					1																	247599321		2203	4300	6503	245665944	SO:0001583	missense	114548	exon6			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2548G>T	1.37:g.247599321G>T	ENSP00000337383:p.Val850Leu		245665944	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	11.80	1.748031	0.30955	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.42900	0.96;0.96;0.96	3.78	2.87	0.33458	.	0.000000	0.32836	N	0.005583	T	0.35189	0.0923	L	0.45470	1.425	0.37748	D	0.925869	B;B;P	0.45428	0.141;0.333;0.858	B;B;B	0.43386	0.029;0.142;0.418	T	0.29305	-1.0016	10	0.45353	T	0.12	.	7.4138	0.27032	0.1172:0.0:0.8828:0.0	.	830;793;850	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	L	850;850;793	ENSP00000375704:V850L;ENSP00000337383:V850L;ENSP00000375703:V793L	ENSP00000337383:V850L	V	+	1	0	NLRP3	245665944	0.305000	0.24481	0.012000	0.15200	0.002000	0.02628	3.740000	0.55082	1.190000	0.43042	0.536000	0.68110	GTA		0.502	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247599390	247599390	+	Missense_Mutation	SNP	G	G	A	rs201867582		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247599390G>A	ENST00000336119.3	+	6	3363	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.A873T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A816T|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	873					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.A873T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCAGGAGTCGCAATTTTATG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		20472	0.0		0.0	False		,,,				2504	0.001				p.A873T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2617A	1						.	G	THR/ALA,,THR/ALA,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	101.0	94.0	96.0		2617,,2446,2617,	-1.8	0.0	1		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense,missense,intron	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	58,,58,58,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,,benign,benign,	873/1037,,816/980,873/1037,	247599390	2,13004	2203	4300	6503	245666013	SO:0001583	missense	114548	exon6			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2617G>A	1.37:g.247599390G>A	ENSP00000337383:p.Ala873Thr		245666013	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	g	6.439	0.449065	0.12223	2.27E-4	1.16E-4	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.48522	0.81;0.81;0.81	3.63	-1.75	0.08031	.	1.009950	0.07976	N	0.984869	T	0.25044	0.0608	N	0.12182	0.205	0.09310	N	1	B;B;B	0.17667	0.0;0.002;0.023	B;B;B	0.13407	0.0;0.001;0.009	T	0.17592	-1.0364	10	0.39692	T	0.17	.	4.2389	0.10638	0.4427:0.1842:0.3731:0.0	.	853;816;873	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	T	873;873;816	ENSP00000375704:A873T;ENSP00000337383:A873T;ENSP00000375703:A816T	ENSP00000337383:A873T	A	+	1	0	NLRP3	245666013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.043000	0.13971	-0.335000	0.08451	-0.331000	0.08364	GCA		0.463	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR2B11	127623	broad.mit.edu	37	1	247614710	247614710	+	Missense_Mutation	SNP	G	G	A	rs534641794		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247614710G>A	ENST00000318749.6	-	1	598	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S192L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCAGCACACGACAGCTTGAT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20350	0.001		0.0	False		,,,				2504	0.0				p.S192L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	1						.						61.0	62.0	62.0					1																	247614710		2203	4300	6503	245681333	SO:0001583	missense	127623	exon1				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.575C>T	1.37:g.247614710G>A	ENSP00000325682:p.Ser192Leu		245681333	NM_001004492	B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778280	0.31502	.	.	ENSG00000177535	ENST00000318749	T	0.00291	8.27	5.09	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	1.018430	0.07864	N	0.966747	T	0.00496	0.0016	M	0.89601	3.045	0.09310	N	1	P	0.46578	0.88	B	0.41894	0.369	T	0.53683	-0.8404	10	0.87932	D	0	.	13.7998	0.63192	0.0:0.1544:0.8456:0.0	.	192	Q5JQS5	OR2BB_HUMAN	L	192	ENSP00000325682:S192L	ENSP00000325682:S192L	S	-	2	0	OR2B11	245681333	0.004000	0.15560	0.386000	0.26170	0.013000	0.08279	1.437000	0.34991	1.512000	0.48834	0.643000	0.83706	TCG		0.557	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
OR2G3	81469	broad.mit.edu	37	1	247769041	247769041	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247769041G>T	ENST00000320002.2	+	1	186	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCATATCTGGATCCCCCTCT	0.448																																					p.D52Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154T	1						.						269.0	263.0	265.0					1																	247769041		2203	4300	6503	245835664	SO:0001583	missense	81469	exon1			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.154G>T	1.37:g.247769041G>T	ENSP00000326301:p.Asp52Tyr		245835664	NM_001001914	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814650	0.32053	.	.	ENSG00000177476	ENST00000320002	T	0.02974	4.09	3.57	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.195513	0.23680	N	0.045640	T	0.21387	0.0515	H	0.98701	4.305	0.09310	N	1	D	0.89917	1.0	D	0.69142	0.962	T	0.12477	-1.0546	10	0.72032	D	0.01	.	5.8438	0.18652	0.112:0.0:0.6927:0.1953	.	52	Q8NGZ4	OR2G3_HUMAN	Y	52	ENSP00000326301:D52Y	ENSP00000326301:D52Y	D	+	1	0	OR2G3	245835664	0.000000	0.05858	0.210000	0.23637	0.050000	0.14768	0.041000	0.13927	0.828000	0.34709	-0.544000	0.04233	GAT		0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1		
OR2G3	81469	broad.mit.edu	37	1	247769458	247769458	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247769458G>A	ENST00000320002.2	+	1	603	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D191N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGCTTGTGTGGACACCACTGT	0.438																																					p.D191N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	1						.						234.0	202.0	213.0					1																	247769458		2203	4300	6503	245836081	SO:0001583	missense	81469	exon1			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.571G>A	1.37:g.247769458G>A	ENSP00000326301:p.Asp191Asn		245836081	NM_001001914	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183206	0.57800	.	.	ENSG00000177476	ENST00000320002	T	0.00231	8.49	3.52	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	U	0.001703	T	0.00300	0.0009	L	0.60067	1.865	0.09310	N	1	P	0.46578	0.88	P	0.53006	0.715	T	0.47045	-0.9147	10	0.46703	T	0.11	.	9.9601	0.41691	0.0:0.0:0.7956:0.2044	.	191	Q8NGZ4	OR2G3_HUMAN	N	191	ENSP00000326301:D191N	ENSP00000326301:D191N	D	+	1	0	OR2G3	245836081	0.999000	0.42202	0.627000	0.29227	0.908000	0.53690	2.982000	0.49337	0.762000	0.33152	0.386000	0.25728	GAC		0.438	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1		
OR13G1	441933	broad.mit.edu	37	1	247835668	247835668	+	Missense_Mutation	SNP	G	G	T	rs138028749		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247835668G>T	ENST00000359688.2	-	1	697	c.676C>A	c.(676-678)Cgc>Agc	p.R226S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTACTGTGCGGATACGGAGA	0.453																																					p.R226S												.	.	0			c.C676A	1						.						127.0	111.0	117.0					1																	247835668		2203	4300	6503	245902291	SO:0001583	missense	441933	exon1			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.676C>A	1.37:g.247835668G>T	ENSP00000352717:p.Arg226Ser		245902291	NM_001005487	B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073525	0.20147	.	.	ENSG00000197437	ENST00000359688	T	0.37235	1.21	4.2	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.485095	0.17504	N	0.171892	T	0.36276	0.0961	L	0.31804	0.96	0.09310	N	1	P	0.51653	0.947	D	0.63793	0.918	T	0.11275	-1.0594	10	0.38643	T	0.18	-23.1317	2.6468	0.04986	0.0938:0.1611:0.4143:0.3308	.	226	Q8NGZ3	O13G1_HUMAN	S	226	ENSP00000352717:R226S	ENSP00000352717:R226S	R	-	1	0	OR13G1	245902291	0.000000	0.05858	0.004000	0.12327	0.210000	0.24377	-0.663000	0.05299	0.150000	0.19136	-0.223000	0.12442	CGC		0.453	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487	
OR6F1	343169	broad.mit.edu	37	1	247875554	247875554	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247875554G>A	ENST00000302084.2	-	1	551	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGGGCCACAGAAGGACAGGC	0.597																																					p.F168F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	1						.						78.0	87.0	84.0					1																	247875554		2203	4300	6503	245942177	SO:0001819	synonymous_variant	343169	exon1			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.504C>T	1.37:g.247875554G>A			245942177	NM_001005286	B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	CCDS31095.1																																																																																				0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
OR1C1	26188	broad.mit.edu	37	1	247921178	247921178	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:247921178G>T	ENST00000408896.2	-	1	804	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATCACAGAAGAAATGATGGA	0.488																																					p.F177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C531A	1						.						64.0	64.0	64.0					1																	247921178		2112	4244	6356	245987801	SO:0001583	missense	26188	exon1			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.531C>A	1.37:g.247921178G>T	ENSP00000386138:p.Phe177Leu		245987801	NM_012353	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402072	0.62288	.	.	ENSG00000221888	ENST00000408896	T	0.00346	8.01	3.19	1.23	0.21249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00815	0.0027	M	0.88241	2.94	0.22489	N	0.999051	D	0.89917	1.0	D	0.91635	0.999	T	0.43245	-0.9403	9	0.87932	D	0	.	6.5202	0.22271	0.3249:0.0:0.6751:0.0	.	177	Q15619	OR1C1_HUMAN	L	177	ENSP00000386138:F177L	ENSP00000386138:F177L	F	-	3	2	OR1C1	245987801	0.095000	0.21747	0.999000	0.59377	0.992000	0.81027	0.475000	0.22164	0.187000	0.20147	0.580000	0.79431	TTC		0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1		
TRIM58	25893	broad.mit.edu	37	1	248028063	248028063	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248028063C>A	ENST00000366481.3	+	3	621	c.573C>A	c.(571-573)ggC>ggA	p.G191G		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	191						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G191G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCATCGTGGCTTTCTGGCCC	0.617																																					p.G191G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573A	1						.						65.0	53.0	57.0					1																	248028063		2203	4300	6503	246094686	SO:0001819	synonymous_variant	25893	exon3			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.573C>A	1.37:g.248028063C>A			246094686	NM_015431	Q6B0H9	Silent	SNP	ENST00000366481.3	37	CCDS1636.1																																																																																				0.617	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
OR2T8	343172	broad.mit.edu	37	1	248084956	248084956	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248084956C>A	ENST00000319968.4	+	1	637	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCCCTCATCCTGTCCTCCTA	0.547																																					p.L213M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637A	1						.						4.0	4.0	4.0					1																	248084956		1794	3640	5434	246151579	SO:0001583	missense	343172	exon1				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.637C>A	1.37:g.248084956C>A	ENSP00000326225:p.Leu213Met		246151579	NM_001005522		Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903315	0.33628	.	.	ENSG00000177462	ENST00000319968	T	0.00269	8.37	3.56	0.484	0.16825	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29280	U	0.012616	T	0.00300	0.0009	L	0.52011	1.625	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52968	-0.8504	10	0.48119	T	0.1	.	3.1081	0.06348	0.2804:0.4013:0.0:0.3183	.	213	A6NH00	OR2T8_HUMAN	M	213	ENSP00000326225:L213M	ENSP00000326225:L213M	L	+	1	2	OR2T8	246151579	0.000000	0.05858	0.020000	0.16555	0.195000	0.23768	-1.956000	0.01522	0.214000	0.20742	0.404000	0.27445	CTG		0.547	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522	
OR2L8	391190	broad.mit.edu	37	1	248112400	248112400	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248112400G>A	ENST00000357191.3	+	1	241	c.241G>A	c.(241-243)Gca>Aca	p.A81T	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A81T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCTAAGATGGCATCTGATTT	0.443																																					p.A81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	1						.						296.0	262.0	273.0					1																	248112400		2203	4297	6500	246179023	SO:0001583	missense	391190	exon1			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.241G>A	1.37:g.248112400G>A	ENSP00000349719:p.Ala81Thr		246179023	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109210	0.20714	.	.	ENSG00000196936	ENST00000357191	T	0.00344	8.02	1.64	0.388	0.16264	GPCR, rhodopsin-like superfamily (1);	1.380920	0.05644	U	0.583995	T	0.00271	0.0008	M	0.61703	1.905	0.09310	N	1	B	0.15719	0.014	B	0.16722	0.016	T	0.46359	-0.9197	10	0.41790	T	0.15	.	2.1751	0.03860	0.257:0.0:0.2758:0.4672	.	81	Q8NGY9	OR2L8_HUMAN	T	81	ENSP00000349719:A81T	ENSP00000349719:A81T	A	+	1	0	OR2L8	246179023	0.000000	0.05858	0.380000	0.26093	0.147000	0.21601	-2.039000	0.01418	0.905000	0.36596	0.479000	0.44913	GCA		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
OR2L2	26246	broad.mit.edu	37	1	248201717	248201717	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248201717T>G	ENST00000366479.2	+	1	244	c.148T>G	c.(148-150)Ttg>Gtg	p.L50V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCATCTTTTTGGACATCCA	0.383																																					p.L50V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T148G	1						.						286.0	269.0	275.0					1																	248201717		2203	4300	6503	246268340	SO:0001583	missense	26246	exon1			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.148T>G	1.37:g.248201717T>G	ENSP00000355435:p.Leu50Val		246268340	NM_001004686	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	4.562	0.104327	0.08731	.	.	ENSG00000203663	ENST00000366479	T	0.02944	4.1	2.09	-3.5	0.04710	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02649	0.0080	L	0.56124	1.755	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.47328	-0.9126	9	0.22706	T	0.39	.	2.757	0.05295	0.3332:0.2197:0.0:0.447	.	50	Q8NH16	OR2L2_HUMAN	V	50	ENSP00000355435:L50V	ENSP00000355435:L50V	L	+	1	2	OR2L2	246268340	0.000000	0.05858	0.015000	0.15790	0.112000	0.19704	-5.507000	0.00117	-0.295000	0.08960	0.163000	0.16589	TTG		0.383	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
OR2L13	284521	broad.mit.edu	37	1	248262824	248262824	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248262824C>T	ENST00000358120.2	+	2	292	c.147C>T	c.(145-147)caC>caT	p.H49H	OR2L13_ENST00000366478.2_Silent_p.H49H			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H49H(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTCATCCACGTGGATCCTC	0.502																																					p.H49H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C147T	1						.						225.0	211.0	216.0					1																	248262824		2203	4300	6503	246329447	SO:0001819	synonymous_variant	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.147C>T	1.37:g.248262824C>T			246329447	NM_175911	Q5VUR5	Silent	SNP	ENST00000358120.2	37	CCDS1637.1																																																																																				0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2L13	284521	broad.mit.edu	37	1	248263467	248263467	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248263467C>A	ENST00000358120.2	+	2	935	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	OR2L13_ENST00000366478.2_Missense_Mutation_p.L264I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L264I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCCAGGAATCTCCGCTCACC	0.468																																					p.L264I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790A	1						.						119.0	118.0	118.0					1																	248263467		2203	4300	6503	246330090	SO:0001583	missense	284521	exon3			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.790C>A	1.37:g.248263467C>A	ENSP00000350836:p.Leu264Ile		246330090	NM_175911	Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	3.641	-0.073628	0.07184	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00042	8.84;8.84	4.21	-0.155	0.13395	GPCR, rhodopsin-like superfamily (1);	0.207905	0.22233	N	0.062800	T	0.00109	0.0003	L	0.33245	0.995	0.09310	N	1	B	0.20261	0.043	B	0.33196	0.159	T	0.41805	-0.9488	10	0.56958	D	0.05	.	1.1183	0.01719	0.2503:0.3243:0.2543:0.171	.	264	Q8N349	OR2LD_HUMAN	I	264	ENSP00000355434:L264I;ENSP00000350836:L264I	ENSP00000350836:L264I	L	+	1	0	OR2L13	246330090	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-0.896000	0.04114	0.081000	0.16988	-0.749000	0.03505	CTC		0.468	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911	
OR2M5	127059	broad.mit.edu	37	1	248308859	248308859	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248308859G>T	ENST00000366476.1	+	1	410	c.410G>T	c.(409-411)aGa>aTa	p.R137I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AATCTCATGAGACCCAAAATT	0.453																																					p.R137I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410T	1						.						269.0	269.0	269.0					1																	248308859		2203	4300	6503	246375482	SO:0001583	missense	127059	exon1				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.410G>T	1.37:g.248308859G>T	ENSP00000355432:p.Arg137Ile		246375482	NM_001004690		Missense_Mutation	SNP	ENST00000366476.1	37	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.360	1.067850	0.20067	.	.	ENSG00000162727	ENST00000366476	T	0.38560	1.13	2.9	0.667	0.17907	GPCR, rhodopsin-like superfamily (1);	0.856574	0.09546	U	0.787603	T	0.41282	0.1152	M	0.73962	2.25	0.09310	N	1	B	0.20164	0.042	B	0.23716	0.048	T	0.48822	-0.9001	10	0.87932	D	0	.	5.3781	0.16176	0.2124:0.1839:0.6037:0.0	.	137	A3KFT3	OR2M5_HUMAN	I	137	ENSP00000355432:R137I	ENSP00000355432:R137I	R	+	2	0	OR2M5	246375482	0.000000	0.05858	0.007000	0.13788	0.036000	0.12997	-1.759000	0.01808	1.316000	0.45131	0.492000	0.49549	AGA		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
OR2M5	127059	broad.mit.edu	37	1	248308950	248308950	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248308950C>A	ENST00000366476.1	+	1	501	c.501C>A	c.(499-501)tcC>tcA	p.S167S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S167S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTTCCTTCTCCTACTGTGGGT	0.438																																					p.S167S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	1						.						278.0	262.0	267.0					1																	248308950		2203	4300	6503	246375573	SO:0001819	synonymous_variant	127059	exon1				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.501C>A	1.37:g.248308950C>A			246375573	NM_001004690		Silent	SNP	ENST00000366476.1	37	CCDS31105.1																																																																																				0.438	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
OR2M3	127062	broad.mit.edu	37	1	248366709	248366709	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248366709C>A	ENST00000456743.1	+	1	378	c.340C>A	c.(340-342)Ctt>Att	p.L114I		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114I(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGTGCTTTCTTTTGGCTGT	0.453																																					p.L114I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340A	1						.						240.0	246.0	244.0					1																	248366709		2203	4300	6503	246433332	SO:0001583	missense	127062	exon1				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.340C>A	1.37:g.248366709C>A	ENSP00000389625:p.Leu114Ile		246433332	NM_001004689	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103019	0.37145	.	.	ENSG00000228198	ENST00000456743	T	0.00585	6.39	2.36	-0.0859	0.13684	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27113	U	0.020866	T	0.01976	0.0062	M	0.75264	2.295	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21008	-1.0258	10	0.72032	D	0.01	.	9.8843	0.41253	0.358:0.642:0.0:0.0	.	114	Q8NG83	OR2M3_HUMAN	I	114	ENSP00000389625:L114I	ENSP00000389625:L114I	L	+	1	0	OR2M3	246433332	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-4.446000	0.00232	0.296000	0.22592	0.405000	0.27470	CTT		0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
OR2M3	127062	broad.mit.edu	37	1	248367165	248367165	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248367165C>T	ENST00000456743.1	+	1	834	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R266C(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACATCTGATCGCTCCCCAAC	0.507																																					p.R266C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C796T	1						.						189.0	172.0	178.0					1																	248367165		2203	4300	6503	246433788	SO:0001583	missense	127062	exon1				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.796C>T	1.37:g.248367165C>T	ENSP00000389625:p.Arg266Cys		246433788	NM_001004689	B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841787	0.32513	.	.	ENSG00000228198	ENST00000456743	T	0.00137	8.68	2.54	0.382	0.16234	GPCR, rhodopsin-like superfamily (1);	1.645920	0.04293	U	0.345971	T	0.00328	0.0010	M	0.67700	2.07	0.09310	N	1	D	0.64830	0.994	P	0.61070	0.883	T	0.45920	-0.9228	10	0.72032	D	0.01	.	2.0929	0.03660	0.4734:0.2597:0.1569:0.11	.	266	Q8NG83	OR2M3_HUMAN	C	266	ENSP00000389625:R266C	ENSP00000389625:R266C	R	+	1	0	OR2M3	246433788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.663000	0.01968	-0.032000	0.13758	-0.746000	0.03513	CGC		0.507	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
OR2M7	391196	broad.mit.edu	37	1	248487080	248487080	+	Missense_Mutation	SNP	G	G	T	rs199675516		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248487080G>T	ENST00000317965.2	-	1	819	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S264Y(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAATGATGAGATGTGGGCTG	0.478																																					p.S264Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C791A	1						.						158.0	143.0	148.0					1																	248487080		2203	4300	6503	246553703	SO:0001583	missense	391196	exon1			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.791C>A	1.37:g.248487080G>T	ENSP00000324557:p.Ser264Tyr		246553703	NM_001004691	B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	3.896	-0.022961	0.07634	.	.	ENSG00000177186	ENST00000317965	T	0.00274	8.35	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.575794	0.13102	U	0.413710	T	0.00845	0.0028	H	0.94582	3.555	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.31251	-0.9950	10	0.87932	D	0	.	8.5476	0.33430	0.0:0.2407:0.7593:0.0	.	264	Q8NG81	OR2M7_HUMAN	Y	264	ENSP00000324557:S264Y	ENSP00000324557:S264Y	S	-	2	0	OR2M7	246553703	0.001000	0.12720	0.018000	0.16275	0.010000	0.07245	0.573000	0.23699	0.850000	0.35239	0.194000	0.17425	TCT		0.478	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691	
NIPAL3	57185	broad.mit.edu	37	1	24790531	24790531	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24790531C>A	ENST00000374399.4	+	11	1310	c.942C>A	c.(940-942)ttC>ttA	p.F314L	NIPAL3_ENST00000339255.2_Missense_Mutation_p.F314L|NIPAL3_ENST00000003912.3_Missense_Mutation_p.F232L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	314						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F314L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TCATTGCATTCTTGGGCGTCT	0.507																																					p.F314L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C942A	1						.						119.0	102.0	108.0					1																	24790531		2203	4300	6503	24663118	SO:0001583	missense	57185	exon11			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.942C>A	1.37:g.24790531C>A	ENSP00000363520:p.Phe314Leu		24663118	NM_020448	A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.64|15.64	2.893471|2.893471	0.52121|0.52121	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255|ENST00000432012	D;D;D|.	0.87256|.	-2.23;-2.23;-2.23|.	5.95|5.95	5.05|5.05	0.67936|0.67936	.|.	0.041586|.	0.85682|.	N|.	0.000000|.	T|T	0.75882|0.75882	0.3910|0.3910	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.83275|.	0.996;0.994|.	T|T	0.77925|0.77925	-0.2405|-0.2405	10|5	0.27785|.	T|.	0.31|.	-42.5371|-42.5371	12.2446|12.2446	0.54563|0.54563	0.0:0.8589:0.0:0.1411|0.0:0.8589:0.0:0.1411	.|.	314;314|.	Q6P499;A6NN97|.	NPAL3_HUMAN;.|.	L|Y	314;232;314|126	ENSP00000363520:F314L;ENSP00000003912:F232L;ENSP00000343549:F314L|.	ENSP00000003912:F232L|.	F|S	+|+	3|2	2|0	NIPAL3|NIPAL3	24663118|24663118	0.906000|0.906000	0.30813|0.30813	0.865000|0.865000	0.33974|0.33974	0.044000|0.044000	0.14063|0.14063	1.582000|1.582000	0.36568|0.36568	1.532000|1.532000	0.49169|0.49169	-0.251000|-0.251000	0.11542|0.11542	TTC|TCT		0.507	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448	
OR2T6	254879	broad.mit.edu	37	1	248551559	248551559	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248551559C>T	ENST00000355728.2	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S217F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGACTGCATCCTACACCAGG	0.522																																					p.S217F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	1						.						300.0	230.0	254.0					1																	248551559		2203	4300	6503	246618182	SO:0001583	missense	254879	exon1			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.650C>T	1.37:g.248551559C>T	ENSP00000347965:p.Ser217Phe		246618182	NM_001005471	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417359	0.42918	.	.	ENSG00000198104	ENST00000355728	T	0.42513	0.97	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000453	T	0.72053	0.3413	H	0.95151	3.63	0.36621	D	0.875743	D	0.89917	1.0	D	0.83275	0.996	T	0.82770	-0.0293	10	0.87932	D	0	.	11.2441	0.48987	0.0:0.9086:0.0:0.0914	.	217	Q8NHC8	OR2T6_HUMAN	F	217	ENSP00000347965:S217F	ENSP00000347965:S217F	S	+	2	0	OR2T6	246618182	1.000000	0.71417	0.713000	0.30519	0.267000	0.26476	6.674000	0.74487	2.295000	0.77249	0.643000	0.83706	TCC		0.522	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
OR2T1	26696	broad.mit.edu	37	1	248569430	248569430	+	Silent	SNP	C	C	T	rs145103744		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248569430C>T	ENST00000366474.1	+	1	135	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I45I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCTTATATCGGCACAACTG	0.378																																					p.I45I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C135T	1						.	C		0,4406		0,0,2203	151.0	149.0	150.0		135	-0.8	0.0	1	dbSNP_134	150	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR2T1	NM_030904.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		45/370	248569430	2,13004	2203	4300	6503	246636053	SO:0001819	synonymous_variant	26696	exon1			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.135C>T	1.37:g.248569430C>T			246636053	NM_030904	Q6IEZ9	Silent	SNP	ENST00000366474.1	37	CCDS31115.1																																																																																				0.378	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2		
OR2G6	391211	broad.mit.edu	37	1	248685811	248685811	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248685811T>C	ENST00000343414.4	+	1	896	c.864T>C	c.(862-864)atT>atC	p.I288I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I288I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAACCCCATTATCTACACTC	0.443																																					p.I288I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T864C	1						.						67.0	70.0	69.0					1																	248685811		2203	4300	6503	246752434	SO:0001819	synonymous_variant	391211	exon1				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.864T>C	1.37:g.248685811T>C			246752434	NM_001013355	B2RP33	Silent	SNP	ENST00000343414.4	37	CCDS31119.1																																																																																				0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
OR2T34	127068	broad.mit.edu	37	1	248737422	248737422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248737422G>A	ENST00000328782.2	-	1	658	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213F(1)|p.L213I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGGGGTGAGAAGCATGAGG	0.557																																					p.L213F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C637T	1						.						198.0	212.0	208.0					1																	248737422		2113	4300	6413	246804045	SO:0001583	missense	127068	exon1			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.637C>T	1.37:g.248737422G>A	ENSP00000330904:p.Leu213Phe		246804045	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.096423	0.36952	.	.	ENSG00000183310	ENST00000328782	T	0.39056	1.1	2.37	0.0232	0.14136	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48926	0.1527	L	0.61387	1.9	0.09310	N	1	D	0.56287	0.975	P	0.58130	0.833	T	0.35822	-0.9773	9	0.66056	D	0.02	.	3.6116	0.08062	0.2543:0.0:0.5517:0.194	.	213	Q8NGX1	O2T34_HUMAN	F	213	ENSP00000330904:L213F	ENSP00000330904:L213F	L	-	1	0	OR2T34	246804045	0.001000	0.12720	0.076000	0.20297	0.110000	0.19582	0.210000	0.17455	0.208000	0.20626	0.123000	0.15791	CTC		0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR2T34	127068	broad.mit.edu	37	1	248737750	248737750	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248737750C>T	ENST00000328782.2	-	1	330	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G103G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCTGGATCCCACAGCCTG	0.552																																					p.G103G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	1						.						97.0	88.0	91.0					1																	248737750		2157	4270	6427	246804373	SO:0001819	synonymous_variant	127068	exon1			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.309G>A	1.37:g.248737750C>T			246804373	NM_001001821	B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	CCDS31120.1																																																																																				0.552	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821	
OR2T10	127069	broad.mit.edu	37	1	248756259	248756259	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:248756259C>A	ENST00000330500.2	-	1	841	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D271Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACATCATATCTTTCTCAGGA	0.423																																					p.D271Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811T	1						.						57.0	63.0	61.0					1																	248756259		2046	4232	6278	246822882	SO:0001583	missense	127069	exon1				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.811G>T	1.37:g.248756259C>A	ENSP00000329210:p.Asp271Tyr		246822882	NM_001004693	B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	4.275	0.050142	0.08243	.	.	ENSG00000184022	ENST00000330500	T	0.00256	8.42	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00754	0.0025	H	0.96239	3.79	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33471	-0.9867	9	0.87932	D	0	.	6.7622	0.23546	0.0:0.8459:0.0:0.1541	.	271	Q8NGZ9	O2T10_HUMAN	Y	271	ENSP00000329210:D271Y	ENSP00000329210:D271Y	D	-	1	0	OR2T10	246822882	0.000000	0.05858	0.590000	0.28732	0.005000	0.04900	0.217000	0.17603	1.123000	0.41961	0.447000	0.29281	GAT		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
NOC2L	26155	broad.mit.edu	37	1	892306	892306	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:892306C>T	ENST00000327044.6	-	4	503	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	152					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.A152T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAACCATGGCGACGGTCACA	0.607																																					p.A152T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	1						.						155.0	156.0	156.0					1																	892306		2203	4300	6503	882169	SO:0001583	missense	26155	exon4			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.454G>A	1.37:g.892306C>T	ENSP00000317992:p.Ala152Thr		882169	NM_015658	Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	1.891	-0.455352	0.04540	.	.	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.54	1.56	0.23342	.	0.521758	0.19774	N	0.106370	T	0.17619	0.0423	L	0.46157	1.445	0.18873	N	0.999981	B;B	0.20887	0.049;0.049	B;B	0.15052	0.012;0.012	T	0.26849	-1.0091	10	0.14252	T	0.57	-9.3456	7.1513	0.25612	0.0:0.5402:0.0:0.4598	.	152;152	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	T	152	ENSP00000317992:A152T	ENSP00000317992:A152T	A	-	1	0	NOC2L	882169	0.006000	0.16342	0.540000	0.28089	0.120000	0.20174	0.367000	0.20382	0.466000	0.27193	-0.142000	0.14014	GCC		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658	
PRDM16	63976	broad.mit.edu	37	1	3328498	3328498	+	Silent	SNP	C	C	T	rs35579804	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:3328498C>T	ENST00000270722.5	+	9	1786	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	PRDM16_ENST00000442529.2_Silent_p.F579F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.F580F|PRDM16_ENST00000378391.2_Silent_p.F579F|PRDM16_ENST00000511072.1_Silent_p.F580F|PRDM16_ENST00000441472.2_Silent_p.F579F|PRDM16_ENST00000514189.1_Silent_p.F580F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	579					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.F579F(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGGAGAAGTTCGAGAGCCGCC	0.662			T	EVI1	"""MDS, AML"""																																p.F579F			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1737T	1						.						34.0	45.0	41.0					1																	3328498		2116	4236	6352	3318358	SO:0001819	synonymous_variant	63976	exon9			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1737C>T	1.37:g.3328498C>T			3318358	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	CCDS41236.2																																																																																				0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
CCDC27	148870	broad.mit.edu	37	1	3680321	3680321	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:3680321G>A	ENST00000294600.2	+	8	1457	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	458								p.R458Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACCCAGCTGCGAAAGATCAAT	0.567																																					p.R458Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1373A	1						.						106.0	104.0	104.0					1																	3680321		2203	4300	6503	3670181	SO:0001583	missense	148870	exon8				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1373G>A	1.37:g.3680321G>A	ENSP00000294600:p.Arg458Gln		3670181	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.198923	0.06219	.	.	ENSG00000162592	ENST00000294600	T	0.19394	2.15	4.76	-1.24	0.09435	.	0.819777	0.10648	N	0.650228	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B	0.28178	0.202	B	0.23852	0.049	T	0.38564	-0.9655	10	0.07175	T	0.84	-8.0746	6.0813	0.19942	0.2101:0.0:0.6175:0.1724	.	458	Q2M243	CCD27_HUMAN	Q	458	ENSP00000294600:R458Q	ENSP00000294600:R458Q	R	+	2	0	CCDC27	3670181	0.010000	0.17322	0.004000	0.12327	0.006000	0.05464	0.079000	0.14782	-0.158000	0.11040	0.462000	0.41574	CGA		0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
CEP104	9731	broad.mit.edu	37	1	3753214	3753214	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:3753214G>A	ENST00000378230.3	-	10	1486	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	388						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R388C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TAATGCTTACGAATAGCTGGA	0.562																																					p.R388C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	1						.						78.0	73.0	75.0					1																	3753214		2203	4300	6503	3743074	SO:0001583	missense	9731	exon10			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1162C>T	1.37:g.3753214G>A	ENSP00000367476:p.Arg388Cys		3743074	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674236	0.29693	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.48522	1.36;0.81	5.68	4.77	0.60923	.	0.569195	0.17844	N	0.160112	T	0.45875	0.1364	M	0.77820	2.39	0.09310	N	0.999996	B;B	0.26041	0.14;0.055	B;B	0.18871	0.023;0.016	T	0.48603	-0.9021	10	0.54805	T	0.06	.	6.6514	0.22965	0.1515:0.0:0.7034:0.1451	.	388;388	O60308-3;O60308	.;CE104_HUMAN	C	388;82	ENSP00000367476:R388C;ENSP00000411927:R82C	ENSP00000367476:R388C	R	-	1	0	CEP104	3743074	0.019000	0.18553	0.008000	0.14137	0.032000	0.12392	1.970000	0.40520	1.395000	0.46643	0.650000	0.86243	CGT		0.562	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
CEP104	9731	broad.mit.edu	37	1	3765182	3765182	+	Nonsense_Mutation	SNP	G	G	A	rs145420390		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:3765182G>A	ENST00000378230.3	-	3	601	c.277C>T	c.(277-279)Cga>Tga	p.R93*	CEP104_ENST00000378223.3_Nonsense_Mutation_p.R93*	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	93						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R93*(3)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCAAGTCTTCGAAACCGCTCT	0.358																																					p.R93X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|skin(1)	c.C277T	1						.						91.0	92.0	92.0					1																	3765182		2203	4300	6503	3755042	SO:0001587	stop_gained	9731	exon3			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.277C>T	1.37:g.3765182G>A	ENSP00000367476:p.Arg93*		3755042	NM_014704	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	40	8.258558	0.98729	.	.	ENSG00000116198	ENST00000378230;ENST00000378223	.	.	.	5.14	5.14	0.70334	.	0.204058	0.42964	D	0.000640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6015	0.88026	0.0:0.0:1.0:0.0	.	.	.	.	X	93	.	ENSP00000367468:R93X	R	-	1	2	CEP104	3755042	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	7.156000	0.77453	2.395000	0.81488	0.591000	0.81541	CGA		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
AJAP1	55966	broad.mit.edu	37	1	4829995	4829995	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:4829995A>C	ENST00000378191.4	+	3	1293	c.912A>C	c.(910-912)aaA>aaC	p.K304N	AJAP1_ENST00000378190.3_Missense_Mutation_p.K304N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	304	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K304N(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TTGTCTTAAAAAATTGGTAAG	0.517																																					p.K304N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A912C	1						.						153.0	151.0	151.0					1																	4829995		2203	4300	6503	4729855	SO:0001583	missense	55966	exon3			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.912A>C	1.37:g.4829995A>C	ENSP00000367433:p.Lys304Asn		4729855	NM_001042478	Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622575	0.46840	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.64991	-0.13;-0.13	5.38	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	L	0.27053	0.805	0.51233	D	0.999916	D	0.89917	1.0	D	0.87578	0.998	T	0.67848	-0.5564	10	0.87932	D	0	-13.375	10.0175	0.42022	0.9206:0.0:0.0794:0.0	.	304	Q9UKB5	AJAP1_HUMAN	N	304	ENSP00000367432:K304N;ENSP00000367433:K304N	ENSP00000367432:K304N	K	+	3	2	AJAP1	4729855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.703000	0.54808	0.888000	0.36160	0.383000	0.25322	AAA		0.517	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	
AJAP1	55966	broad.mit.edu	37	1	4834526	4834526	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:4834526C>T	ENST00000378191.4	+	5	1584	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	AJAP1_ENST00000378190.3_Silent_p.F401F	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	401	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F401F(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGTGGCCTTCGTGTCTGAGA	0.522																																					p.F401F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1203T	1						.						209.0	189.0	196.0					1																	4834526		2203	4300	6503	4734386	SO:0001819	synonymous_variant	55966	exon5			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1203C>T	1.37:g.4834526C>T			4734386	NM_001042478	Q9Y229	Silent	SNP	ENST00000378191.4	37	CCDS54.1																																																																																				0.522	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	
NPHP4	261734	broad.mit.edu	37	1	5935092	5935092	+	Silent	SNP	C	C	T	rs368320071		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:5935092C>T	ENST00000378156.4	-	21	3151	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	962					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.T962T(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGGCCTTCGTGCGTTCCC	0.642													c|||	1	0.000199681	0.0	0.0	5008	,	,		17567	0.001		0.0	False		,,,				2504	0.0				p.T962T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2886A	1						.			0,4388		0,0,2194	64.0	79.0	74.0		2886	-9.3	0.0	1		74	2,8562	2.2+/-6.3	0,2,4280	no	coding-synonymous	NPHP4	NM_015102.3		0,2,6474	TT,TC,CC		0.0234,0.0,0.0154		962/1427	5935092	2,12950	2194	4282	6476	5857679	SO:0001819	synonymous_variant	261734	exon21			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2886G>A	1.37:g.5935092C>T			5857679	NM_015102	Q8IWC0	Silent	SNP	ENST00000378156.4	37	CCDS44052.1																																																																																				0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
NPHP4	261734	broad.mit.edu	37	1	5964828	5964828	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:5964828C>A	ENST00000378156.4	-	16	2257	c.1992G>T	c.(1990-1992)aaG>aaT	p.K664N	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	664					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.K664K(2)|p.K664N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577																																					p.K664N												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	prostate(2)|large_intestine(1)	c.G1992T	1						.						124.0	127.0	126.0					1																	5964828		2104	4228	6332	5887415	SO:0001583	missense	261734	exon16			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1992G>T	1.37:g.5964828C>A	ENSP00000367398:p.Lys664Asn		5887415	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747522	0.30955	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.87887	-2.31	5.1	2.82	0.32997	.	0.575121	0.15995	N	0.234631	T	0.79604	0.4474	L	0.40543	1.245	0.22017	N	0.999414	B	0.19583	0.037	B	0.19666	0.026	T	0.67142	-0.5745	10	0.37606	T	0.19	.	6.7665	0.23571	0.1558:0.6841:0.0:0.1601	.	664	O75161	NPHP4_HUMAN	N	664;67	ENSP00000367398:K664N	ENSP00000367398:K664N	K	-	3	2	NPHP4	5887415	0.028000	0.19301	0.993000	0.49108	0.989000	0.77384	0.098000	0.15189	1.108000	0.41662	0.655000	0.94253	AAG		0.577	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
NPHP4	261734	broad.mit.edu	37	1	5965483	5965483	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:5965483C>A	ENST00000378156.4	-	15	2089	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	608					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.E608D(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGAATCTCGGGAAAGC	0.562																																					p.E608D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1824T	1						.						65.0	65.0	65.0					1																	5965483		1971	4155	6126	5888070	SO:0001583	missense	261734	exon15			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1824G>T	1.37:g.5965483C>A	ENSP00000367398:p.Glu608Asp		5888070	NM_015102	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283405	0.10458	.	.	ENSG00000131697	ENST00000378156;ENST00000378160	D	0.86865	-2.18	5.52	3.42	0.39159	.	0.142736	0.45361	D	0.000363	T	0.73721	0.3623	N	0.16201	0.385	0.29932	N	0.821808	P	0.43352	0.804	P	0.44860	0.462	T	0.67405	-0.5679	10	0.21540	T	0.41	.	2.2267	0.03986	0.1542:0.4903:0.1506:0.2049	.	608	O75161	NPHP4_HUMAN	D	608;11	ENSP00000367398:E608D	ENSP00000367398:E608D	E	-	3	2	NPHP4	5888070	0.864000	0.29904	0.999000	0.59377	0.307000	0.27823	-0.141000	0.10327	1.327000	0.45338	0.561000	0.74099	GAG		0.562	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2		
CHD5	26038	broad.mit.edu	37	1	6191703	6191703	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:6191703C>T	ENST00000262450.3	-	21	3349	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D1084N(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGAATCTGTCGATTGCCTCC	0.572																																					p.D1084N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3250A	1						.						82.0	76.0	78.0					1																	6191703		2203	4300	6503	6114290	SO:0001583	missense	26038	exon21			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3250G>A	1.37:g.6191703C>T	ENSP00000262450:p.Asp1084Asn		6114290	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654638	0.67472	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91180	-2.8	5.09	4.16	0.48862	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91915	0.7440	L	0.39397	1.21	0.80722	D	1	D	0.65815	0.995	P	0.60012	0.867	D	0.92808	0.6262	10	0.87932	D	0	-41.5577	15.7116	0.77631	0.0:0.8625:0.1375:0.0	.	1084	Q8TDI0	CHD5_HUMAN	N	1084;600;492;492	ENSP00000262450:D1084N	ENSP00000262450:D1084N	D	-	1	0	CHD5	6114290	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	7.699000	0.84547	1.242000	0.43836	0.561000	0.74099	GAC		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CHD5	26038	broad.mit.edu	37	1	6212508	6212508	+	Silent	SNP	G	G	A	rs200170499	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:6212508G>A	ENST00000262450.3	-	6	933	c.834C>T	c.(832-834)ttC>ttT	p.F278F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.F278F(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGATCCCCCCGAAGCGGAACT	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		17959	0.001		0.0	False		,,,				2504	0.001				p.F278F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	147.0	122.0	130.0		834	-8.8	0.7	1		130	0,8600		0,0,4300	no	coding-synonymous	CHD5	NM_015557.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		278/1955	6212508	1,13005	2203	4300	6503	6135095	SO:0001819	synonymous_variant	26038	exon6			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.834C>T	1.37:g.6212508G>A			6135095	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	CCDS57.1																																																																																				0.537	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
RNF207	388591	broad.mit.edu	37	1	6270289	6270289	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:6270289C>T	ENST00000377939.4	+	9	934	c.807C>T	c.(805-807)taC>taT	p.Y269Y	RNF207_ENST00000377948.2_Silent_p.Y42Y	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y269Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCAGCCAATACGAAGAGAAGG	0.672																																					p.Y269Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	1						.						48.0	50.0	49.0					1																	6270289		2203	4300	6503	6192876	SO:0001819	synonymous_variant	388591	exon9			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.807C>T	1.37:g.6270289C>T			6192876	NM_207396	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	CCDS59.2																																																																																				0.672	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396	
TAS1R1	80835	broad.mit.edu	37	1	6636659	6636659	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:6636659A>C	ENST00000333172.6	+	4	1638	c.1445A>C	c.(1444-1446)aAa>aCa	p.K482T	TAS1R1_ENST00000351136.3_Missense_Mutation_p.K228T|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	482					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.K482T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AATGAGACCAAAATCCAGTGG	0.507																																					p.K228T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683C	1						.						79.0	75.0	77.0					1																	6636659		2203	4300	6503	6559246	SO:0001583	missense	80835	exon3				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1445A>C	1.37:g.6636659A>C	ENSP00000331867:p.Lys482Thr		6559246	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.92|17.92	3.507061|3.507061	0.64410|0.64410	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000415267|ENST00000333172;ENST00000437392;ENST00000351136	T|D;T	0.75050|0.86230	-0.9|-2.09;-0.83	5.05|5.05	3.85|3.85	0.44370|0.44370	.|.	0.718258|0.718258	0.14095|0.14095	N|N	0.341726|0.341726	T|T	0.81019|0.81019	0.4736|0.4736	N|N	0.24115|0.24115	0.695|0.695	0.22127|0.22127	N|N	0.999343|0.999343	.|D;P;P	.|0.53462	.|0.96;0.952;0.704	.|P;P;B	.|0.49085	.|0.59;0.6;0.229	T|T	0.69109|0.69109	-0.5232|-0.5232	8|10	0.32370|0.21540	T|T	0.25|0.41	.|.	8.7915|8.7915	0.34854|0.34854	0.8323:0.0:0.0:0.1677|0.8323:0.0:0.0:0.1677	.|.	.|228;228;482	.|Q7RTX1-4;Q7RTX1-2;Q7RTX1	.|.;.;TS1R1_HUMAN	Q|T	154|482;150;228	ENSP00000408448:K154Q|ENSP00000331867:K482T;ENSP00000312558:K228T	ENSP00000408448:K154Q|ENSP00000331867:K482T	K|K	+|+	1|2	0|0	TAS1R1|TAS1R1	6559246|6559246	0.114000|0.114000	0.22134|0.22134	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.337000|0.337000	0.19841|0.19841	1.881000|1.881000	0.54492|0.54492	0.482000|0.482000	0.46254|0.46254	AAA|AAA		0.507	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
DNAJC11	55735	broad.mit.edu	37	1	6712908	6712908	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:6712908G>A	ENST00000377577.5	-	6	734	c.611C>T	c.(610-612)tCg>tTg	p.S204L	DNAJC11_ENST00000542246.1_Missense_Mutation_p.S166L|DNAJC11_ENST00000377573.5_Missense_Mutation_p.S114L|DNAJC11_ENST00000349363.6_Missense_Mutation_p.S166L|DNAJC11_ENST00000294401.7_Missense_Mutation_p.S204L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	204						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.S204L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTTGCCGAAGTTACTCG	0.483																																					p.S204L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611T	1						.						143.0	136.0	139.0					1																	6712908		2203	4300	6503	6635495	SO:0001583	missense	55735	exon6			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.611C>T	1.37:g.6712908G>A	ENSP00000366800:p.Ser204Leu		6635495	NM_018198	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139664	0.94560	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.54479	2.12;1.03;0.57;2.12;1.83;1.43;1.98	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.82056	2.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.963;0.976;0.997;0.923	T	0.78383	-0.2225	10	0.87932	D	0	-20.2492	18.4511	0.90704	0.0:0.0:1.0:0.0	.	114;180;204;204	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	L	204;180;166;204;166;114;204	ENSP00000366800:S204L;ENSP00000415871:S180L;ENSP00000326304:S166L;ENSP00000294401:S204L;ENSP00000444020:S166L;ENSP00000366796:S114L;ENSP00000410194:S204L	ENSP00000294401:S204L	S	-	2	0	DNAJC11	6635495	1.000000	0.71417	0.760000	0.31359	0.972000	0.66771	9.328000	0.96403	2.666000	0.90696	0.655000	0.94253	TCG		0.483	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198	
CAMTA1	23261	broad.mit.edu	37	1	7805038	7805038	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:7805038T>G	ENST00000303635.7	+	17	4533	c.4326T>G	c.(4324-4326)agT>agG	p.S1442R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S1442R|CAMTA1_ENST00000476864.1_Missense_Mutation_p.S6R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1442R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCTGGCCAGTTATCTAGCGG	0.522			T	WWTR1	epitheliod hemangioendothelioma																																p.S1442R			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4326G	1						.						109.0	95.0	100.0					1																	7805038		2203	4300	6503	7727625	SO:0001583	missense	23261	exon17			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4326T>G	1.37:g.7805038T>G	ENSP00000306522:p.Ser1442Arg		7727625	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.88|19.88	3.908689|3.908689	0.72868|0.72868	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864|ENST00000495233;ENST00000490905	T;T;T|.	0.56444|.	1.85;1.78;0.46|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.240460|.	0.48767|.	D|.	0.000171|.	T|T	0.72423|0.72423	0.3458|0.3458	M|M	0.68593|0.68593	2.085|2.085	0.48696|0.48696	D|D	0.999699|0.999699	P;P;B;P|.	0.42757|.	0.789;0.624;0.255;0.554|.	B;B;B;B|.	0.38106|.	0.265;0.261;0.141;0.241|.	T|T	0.72523|0.72523	-0.4267|-0.4267	10|5	0.46703|.	T|.	0.11|.	-1.5509|-1.5509	15.2307|15.2307	0.73386|0.73386	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1442;505;398;1442|.	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1|.	.;.;.;CMTA1_HUMAN|.	R|G	1442;1442;505;398;6|399;22	ENSP00000306522:S1442R;ENSP00000402561:S1442R;ENSP00000452319:S6R|.	ENSP00000306522:S1442R|.	S|V	+|+	3|2	2|0	CAMTA1|CAMTA1	7727625|7727625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	3.180000|3.180000	0.50895|0.50895	1.998000|1.998000	0.58463|0.58463	0.533000|0.533000	0.62120|0.62120	AGT|GTT		0.522	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
VAMP3	9341	broad.mit.edu	37	1	7833537	7833537	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:7833537G>A	ENST00000054666.6	+	2	153	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	VAMP3_ENST00000470357.1_5'UTR|RP3-467L1.6_ENST00000602406.1_RNA	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	13					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.R13Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTAATCGAAGACTTCAG	0.363																																					p.R13Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38A	1						.						84.0	80.0	82.0					1																	7833537		2203	4300	6503	7756124	SO:0001583	missense	9341	exon2			BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.38G>A	1.37:g.7833537G>A	ENSP00000054666:p.Arg13Gln		7756124	NM_004781	Q9BRV4	Missense_Mutation	SNP	ENST00000054666.6	37	CCDS88.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268654	0.80469	.	.	ENSG00000049245	ENST00000054666	T	0.29397	1.57	5.84	5.84	0.93424	Synaptobrevin (1);	0.126333	0.49916	D	0.000123	T	0.33702	0.0872	L	0.47016	1.485	0.80722	D	1	B	0.33379	0.41	B	0.33392	0.163	T	0.08973	-1.0696	10	0.62326	D	0.03	-11.8316	20.1346	0.98019	0.0:0.0:1.0:0.0	.	13	Q15836	VAMP3_HUMAN	Q	13	ENSP00000054666:R13Q	ENSP00000054666:R13Q	R	+	2	0	VAMP3	7756124	1.000000	0.71417	0.940000	0.37924	0.993000	0.82548	5.299000	0.65716	2.765000	0.95021	0.655000	0.94253	CGA		0.363	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781	
TNFRSF9	3604	broad.mit.edu	37	1	7993247	7993247	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:7993247C>A	ENST00000377507.3	-	7	820	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	218	Interaction with LRR-1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.K218N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGAGTTTCTTTCTGCCCC	0.403																																					p.K218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654T	1						.						61.0	59.0	60.0					1																	7993247		2203	4300	6503	7915834	SO:0001583	missense	3604	exon8			L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.654G>T	1.37:g.7993247C>A	ENSP00000366729:p.Lys218Asn		7915834	NM_001561		Missense_Mutation	SNP	ENST00000377507.3	37	CCDS92.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430303	0.83776	.	.	ENSG00000049249	ENST00000377507	T	0.74002	-0.8	4.38	3.45	0.39498	.	1.460060	0.04179	N	0.326063	D	0.84316	0.5445	M	0.68952	2.095	0.30309	N	0.78866	D	0.76494	0.999	D	0.66084	0.941	T	0.66598	-0.5883	10	0.52906	T	0.07	-16.8454	8.796	0.34878	0.0:0.8939:0.0:0.1061	.	218	Q07011	TNR9_HUMAN	N	218	ENSP00000366729:K218N	ENSP00000366729:K218N	K	-	3	2	TNFRSF9	7915834	0.997000	0.39634	0.445000	0.26908	0.811000	0.45836	1.163000	0.31798	1.175000	0.42826	0.563000	0.77884	AAG		0.403	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		
SLC45A1	50651	broad.mit.edu	37	1	8390911	8390911	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:8390911G>T	ENST00000471889.1	+	5	1743	c.1358G>T	c.(1357-1359)aGa>aTa	p.R453I	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R487I|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.R453I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	453					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.R453I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCTGAAGAGACCTCAGACC	0.602																																					p.R453I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1358T	1						.						53.0	63.0	60.0					1																	8390911		2203	4300	6503	8313498	SO:0001583	missense	50651	exon4			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1358G>T	1.37:g.8390911G>T	ENSP00000418096:p.Arg453Ile		8313498	NM_001080397	Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466106	0.63625	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.24723	1.88;1.84;1.88	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51482	-0.8700	10	0.66056	D	0.02	-18.5113	17.4452	0.87577	0.0:0.0:1.0:0.0	.	453	Q9Y2W3	S45A1_HUMAN	I	453;487;453	ENSP00000418096:R453I;ENSP00000366699:R487I;ENSP00000289877:R453I	ENSP00000289877:R453I	R	+	2	0	SLC45A1	8313498	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	9.203000	0.95033	2.348000	0.79779	0.561000	0.74099	AGA		0.602	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
SLC2A7	155184	broad.mit.edu	37	1	9083095	9083095	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:9083095C>T	ENST00000400906.1	-	3	192	c.193G>A	c.(193-195)Gca>Aca	p.A65T		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	65					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.A65T(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATGAATGTTGCGTGTCGCTCA	0.498																																					p.A65T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G193A	1						.						170.0	157.0	161.0					1																	9083095		2203	4300	6503	9005682	SO:0001583	missense	155184	exon3			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.193G>A	1.37:g.9083095C>T	ENSP00000383698:p.Ala65Thr		9005682	NM_207420	A2A333	Missense_Mutation	SNP	ENST00000400906.1	37	CCDS98.2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917421	0.52546	.	.	ENSG00000197241	ENST00000400906	T	0.73789	-0.78	4.68	1.51	0.23008	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.305652	0.30210	N	0.010158	T	0.59500	0.2198	L	0.38175	1.15	0.09310	N	1	B	0.32188	0.359	B	0.31495	0.131	T	0.54695	-0.8255	10	0.72032	D	0.01	.	5.9715	0.19355	0.1497:0.6776:0.0:0.1726	.	65	Q6PXP3	GTR7_HUMAN	T	65	ENSP00000383698:A65T	ENSP00000383698:A65T	A	-	1	0	SLC2A7	9005682	0.000000	0.05858	0.002000	0.10522	0.306000	0.27790	0.526000	0.22971	0.537000	0.28751	0.556000	0.70494	GCA		0.498	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	
SLC2A5	6518	broad.mit.edu	37	1	9097720	9097720	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:9097720C>A	ENST00000377424.4	-	12	1610	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N	SLC2A5_ENST00000535586.1_Missense_Mutation_p.K362N|SLC2A5_ENST00000536305.1_Missense_Mutation_p.K418N	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	477					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.K477N(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTATTCATCTTGGTGAAAA	0.498																																					p.K477N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1431T	1						.						144.0	148.0	146.0					1																	9097720		2203	4300	6503	9020307	SO:0001583	missense	6518	exon12			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1431G>T	1.37:g.9097720C>A	ENSP00000366641:p.Lys477Asn		9020307	NM_003039	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276032	0.40294	.	.	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.81415	-1.23;-1.49;-1.15	5.53	3.65	0.41850	.	0.289177	0.39985	N	0.001215	T	0.70692	0.3253	L	0.31120	0.905	0.40393	D	0.97956	P;P;P	0.41313	0.745;0.745;0.611	B;B;B	0.41988	0.287;0.372;0.287	T	0.70396	-0.4883	10	0.59425	D	0.04	.	8.4239	0.32718	0.1526:0.7683:0.0:0.0791	.	433;418;477	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	N	477;460;418;362	ENSP00000366641:K477N;ENSP00000440688:K418N;ENSP00000442744:K362N	ENSP00000366641:K477N	K	-	3	2	SLC2A5	9020307	1.000000	0.71417	0.303000	0.25071	0.530000	0.34684	1.229000	0.32600	0.791000	0.33826	-0.137000	0.14449	AAG		0.498	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039	
SRRM1	10250	broad.mit.edu	37	1	24973161	24973161	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24973161G>T	ENST00000323848.9	+	3	430	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	SRRM1_ENST00000447431.2_Missense_Mutation_p.D39Y|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_5'Flank|SRRM1_ENST00000374389.4_Missense_Mutation_p.D39Y	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	39	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.D39Y(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCATCAGGTGGACATGAGCAA	0.328																																					p.D39Y	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115T	1						.						115.0	115.0	115.0					1																	24973161		2203	4300	6503	24845748	SO:0001583	missense	10250	exon3			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.115G>T	1.37:g.24973161G>T	ENSP00000326261:p.Asp39Tyr		24845748	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571909	0.45798	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.57107	0.42;0.42;0.42	5.42	5.42	0.78866	Splicing factor PWI (3);	0.000000	0.64402	D	0.000003	T	0.80412	0.4618	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84804	0.0786	10	0.87932	D	0	.	19.5679	0.95403	0.0:0.0:1.0:0.0	.	39;39	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Y	39	ENSP00000326261:D39Y;ENSP00000391430:D39Y;ENSP00000363510:D39Y	ENSP00000326261:D39Y	D	+	1	0	SRRM1	24845748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.700000	0.98707	2.708000	0.92522	0.650000	0.86243	GAC		0.328	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
SRRM1	10250	broad.mit.edu	37	1	24997927	24997927	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:24997927G>T	ENST00000323848.9	+	16	2766	c.2451G>T	c.(2449-2451)aaG>aaT	p.K817N	SRRM1_ENST00000447431.2_Missense_Mutation_p.K829N|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.K826N	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	817	Lys-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K817N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		agaaggacaagaaacacaaaa	0.403																																					p.K817N	Ovarian(68;897 1494 3282 17478)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2451T	1						.						43.0	42.0	43.0					1																	24997927		2203	4300	6503	24870514	SO:0001583	missense	10250	exon16			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2451G>T	1.37:g.24997927G>T	ENSP00000326261:p.Lys817Asn		24870514	NM_005839	O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353999	0.61293	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.53857	0.6;0.65;0.64	5.81	4.9	0.64082	.	0.000000	0.64402	D	0.000003	T	0.65302	0.2678	L	0.47190	1.495	0.80722	D	1	D;P	0.61080	0.989;0.947	D;D	0.72625	0.978;0.95	T	0.67983	-0.5529	10	0.72032	D	0.01	-2.6228	13.5212	0.61569	0.0755:0.0:0.9245:0.0	.	829;817	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	N	817;829;826	ENSP00000326261:K817N;ENSP00000391430:K829N;ENSP00000363510:K826N	ENSP00000326261:K817N	K	+	3	2	SRRM1	24870514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.616000	0.61197	1.444000	0.47605	0.650000	0.86243	AAG		0.403	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839	
CLIC4	25932	broad.mit.edu	37	1	25140685	25140685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:25140685C>A	ENST00000374379.4	+	3	480	c.283C>A	c.(283-285)Ctt>Att	p.L95I	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	95	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L95I(1)		large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGAGGAATTTCTTGAAGAAGT	0.403																																					p.L95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283A	1						.						83.0	88.0	86.0					1																	25140685		2203	4300	6503	25013272	SO:0001583	missense	25932	exon3			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.283C>A	1.37:g.25140685C>A	ENSP00000363500:p.Leu95Ile		25013272	NM_013943	Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	CCDS256.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852197	0.91355	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.63096	-0.02	5.85	5.85	0.93711	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	L	0.58583	1.82	0.45066	D	0.998084	P;D	0.65815	0.897;0.995	D;D	0.87578	0.97;0.998	T	0.71879	-0.4459	10	0.31617	T	0.26	-13.1949	18.9446	0.92616	0.0:1.0:0.0:0.0	.	75;95	B3KTR3;Q9Y696	.;CLIC4_HUMAN	I	95	ENSP00000363500:L95I	ENSP00000363500:L95I	L	+	1	0	CLIC4	25013272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.768000	0.95171	0.655000	0.94253	CTT		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943	
RHD	6007	broad.mit.edu	37	1	25628087	25628087	+	Silent	SNP	C	C	A	rs367810718		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:25628087C>A	ENST00000328664.4	+	5	866	c.711C>A	c.(709-711)gcC>gcA	p.A237A	RHD_ENST00000357542.4_Silent_p.A237A|RHD_ENST00000342055.5_Silent_p.A237A|RHD_ENST00000417538.2_Silent_p.A237A|RHD_ENST00000423810.2_Silent_p.A237A|RHD_ENST00000454452.2_Silent_p.A237A|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Silent_p.A237A	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.A237A(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGAATGCCGTGTTCAACA	0.557																																					p.A237A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711A	1	GRCh37	CD025467	RHD	D		.						198.0	154.0	170.0					1																	25628087		2122	3773	5895	25500674	SO:0001819	synonymous_variant	6007	exon5			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.711C>A	1.37:g.25628087C>A			25500674	NM_001127691	Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	CCDS262.1																																																																																				0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124	
TMEM50A	23585	broad.mit.edu	37	1	25666998	25666998	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:25666998C>A	ENST00000374358.4	+	2	574	c.21C>A	c.(19-21)ggC>ggA	p.G7G	TMEM50A_ENST00000480937.1_3'UTR|RNU6-1171P_ENST00000516706.1_RNA	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G7G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTCTAGAGGGCTTGAGATGCT	0.373																																					p.G7G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21A	1						.						99.0	92.0	94.0					1																	25666998		2203	4300	6503	25539585	SO:0001819	synonymous_variant	23585	exon2			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.21C>A	1.37:g.25666998C>A			25539585	NM_014313		Silent	SNP	ENST00000374358.4	37	CCDS264.1																																																																																				0.373	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1		
TMEM57	55219	broad.mit.edu	37	1	25780777	25780777	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:25780777C>A	ENST00000374343.4	+	4	556	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Missense_Mutation_p.S126Y	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	126					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.S126Y(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)		CCTACAGTGTCTCTCTGGATC	0.398																																					p.S126Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377A	1						.						149.0	139.0	142.0					1																	25780777		2203	4300	6503	25653364	SO:0001583	missense	55219	exon4			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.377C>A	1.37:g.25780777C>A	ENSP00000363463:p.Ser126Tyr		25653364	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786425	0.70337	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	T;T	0.76709	-1.04;2.53	6.03	6.03	0.97812	.	0.052309	0.85682	D	0.000000	D	0.88529	0.6461	M	0.75264	2.295	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.77004	0.989;0.953	D	0.88226	0.2900	10	0.66056	D	0.02	-3.5937	19.6124	0.95613	0.0:1.0:0.0:0.0	.	126;126	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	Y	126	ENSP00000382668:S126Y;ENSP00000363463:S126Y	ENSP00000363463:S126Y	S	+	2	0	TMEM57	25653364	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCT		0.398	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
LDLRAP1	26119	broad.mit.edu	37	1	25889188	25889188	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:25889188T>G	ENST00000374338.4	+	5	632	c.513T>G	c.(511-513)ttT>ttG	p.F171L	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	171	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)	p.F171L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTGAGTTTTGGCAGGTGT	0.577																																					p.F171L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T513G	1						.						139.0	124.0	129.0					1																	25889188		2203	4300	6503	25761775	SO:0001583	missense	26119	exon5			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.513T>G	1.37:g.25889188T>G	ENSP00000363458:p.Phe171Leu		25761775	NM_015627	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	ENST00000374338.4	37	CCDS30639.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433226	0.25813	.	.	ENSG00000157978	ENST00000374338	T	0.60797	0.16	5.56	-2.78	0.05859	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.090181	0.85682	N	0.000000	T	0.23014	0.0556	N	0.04090	-0.28	0.50632	D	0.999888	B	0.02656	0.0	B	0.06405	0.002	T	0.37842	-0.9688	10	0.02654	T	1	-0.688	8.3298	0.32180	0.0:0.3884:0.1073:0.5043	.	171	Q5SW96	ARH_HUMAN	L	171	ENSP00000363458:F171L	ENSP00000363458:F171L	F	+	3	2	LDLRAP1	25761775	0.963000	0.33076	0.996000	0.52242	0.997000	0.91878	0.070000	0.14573	-0.232000	0.09811	0.454000	0.30748	TTT		0.577	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019350.3	NM_015627	
MAN1C1	57134	broad.mit.edu	37	1	26012982	26012982	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26012982G>A	ENST00000374332.4	+	2	922	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	MAN1C1_ENST00000263979.3_Missense_Mutation_p.E18K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	198					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E198K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GGGGAAAAACGAACTCCGTCC	0.498																																					p.E198K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592A	1						.						173.0	163.0	166.0					1																	26012982		2203	4300	6503	25885569	SO:0001583	missense	57134	exon2			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.592G>A	1.37:g.26012982G>A	ENSP00000363452:p.Glu198Lys		25885569	NM_020379	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571306	0.86542	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.76578	-1.03;-1.03	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95426	0.8512	10	0.87932	D	0	.	14.5703	0.68205	0.0:0.0:1.0:0.0	.	198	Q9NR34	MA1C1_HUMAN	K	198;18;18	ENSP00000363452:E198K;ENSP00000263979:E18K	ENSP00000263979:E18K	E	+	1	0	MAN1C1	25885569	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	7.203000	0.77864	2.574000	0.86865	0.563000	0.77884	GAA		0.498	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	
STMN1	3925	broad.mit.edu	37	1	26227545	26227545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26227545C>A	ENST00000399728.1	-	5	775	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	STMN1_ENST00000426559.2_Intron|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E138*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E138*|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Nonsense_Mutation_p.E138*	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	138	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)	p.E138*(1)		breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTGGATTCTTTGTTCTTC	0.413																																					p.E138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G412T	1						.						210.0	200.0	204.0					1																	26227545		2203	4300	6503	26100132	SO:0001587	stop_gained	3925	exon5			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.412G>T	1.37:g.26227545C>A	ENSP00000382633:p.Glu138*		26100132	NM_203399	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Nonsense_Mutation	SNP	ENST00000399728.1	37	CCDS269.1	.	.	.	.	.	.	.	.	.	.	C	38	6.965771	0.97967	.	.	ENSG00000117632	ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5784	0.95453	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000350531:E138X	E	-	1	0	STMN1	26100132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.422000	0.80217	2.710000	0.92621	0.655000	0.94253	GAA		0.413	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019359.1	NM_005563	
PAFAH2	5051	broad.mit.edu	37	1	26316060	26316060	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26316060T>C	ENST00000374282.3	-	3	302	c.123A>G	c.(121-123)caA>caG	p.Q41Q	PAFAH2_ENST00000374284.1_Silent_p.Q41Q|PAFAH2_ENST00000493892.1_Intron	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	41					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.Q41Q(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGCCTTTTGGCAGGGGT	0.572																																					p.Q41Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A123G	1						.						27.0	25.0	26.0					1																	26316060		2202	4300	6502	26188647	SO:0001819	synonymous_variant	5051	exon3			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.123A>G	1.37:g.26316060T>C			26188647	NM_000437	D3DPK1|O15458|Q5SY02	Silent	SNP	ENST00000374282.3	37	CCDS270.1																																																																																				0.572	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437	
TRIM63	84676	broad.mit.edu	37	1	26392850	26392850	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26392850C>T	ENST00000374272.3	-	2	379	c.241G>A	c.(241-243)Gag>Aag	p.E81K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	81	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E81K(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATCACCTCGTGGCGGCAG	0.597																																					p.E81K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	1						.						83.0	64.0	70.0					1																	26392850		2203	4300	6503	26265437	SO:0001583	missense	84676	exon2			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.241G>A	1.37:g.26392850C>T	ENSP00000363390:p.Glu81Lys		26265437	NM_032588	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328726	0.95733	.	.	ENSG00000158022	ENST00000374272	T	0.16897	2.31	5.64	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);	0.045022	0.85682	N	0.000000	T	0.39358	0.1075	M	0.85373	2.75	0.80722	D	1	D	0.64830	0.994	P	0.55112	0.769	T	0.47711	-0.9096	10	0.72032	D	0.01	.	14.1475	0.65360	0.0:0.9273:0.0:0.0727	.	81	Q969Q1	TRI63_HUMAN	K	81	ENSP00000363390:E81K	ENSP00000363390:E81K	E	-	1	0	TRIM63	26265437	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.811000	0.86092	1.389000	0.46526	0.655000	0.94253	GAG		0.597	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1	NM_032588	
PDIK1L	149420	broad.mit.edu	37	1	26441048	26441048	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26441048G>T	ENST00000374271.4	+	3	536	c.249G>T	c.(247-249)aaG>aaT	p.K83N	PDIK1L_ENST00000374269.1_Missense_Mutation_p.K83N	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K83N(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCAAAAGATGTCCCACG	0.433																																					p.K83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G249T	1						.						131.0	129.0	130.0					1																	26441048		2203	4300	6503	26313635	SO:0001583	missense	149420	exon2			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.249G>T	1.37:g.26441048G>T	ENSP00000363389:p.Lys83Asn		26313635	NM_152835	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425037	0.62733	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.63744	0.23;-0.06;-0.06	6.02	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.129855	0.64402	D	0.000003	T	0.59004	0.2162	N	0.25890	0.77	0.26825	N	0.968714	B	0.31256	0.316	P	0.45913	0.497	T	0.58177	-0.7682	10	0.49607	T	0.09	-17.4701	9.7749	0.40612	0.0762:0.1385:0.7853:0.0	.	83	Q8N165	PDK1L_HUMAN	N	83	ENSP00000406510:K83N;ENSP00000363389:K83N;ENSP00000363387:K83N	ENSP00000363387:K83N	K	+	3	2	PDIK1L	26313635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.159000	0.50731	1.495000	0.48549	0.655000	0.94253	AAG		0.433	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835	
CNKSR1	10256	broad.mit.edu	37	1	26507226	26507226	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26507226G>T	ENST00000374253.5	+	3	270	c.231G>T	c.(229-231)gaG>gaT	p.E77D	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.E77D|CNKSR1_ENST00000480348.2_3'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	77					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.E77D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGACAGAGAACCTGCAAA	0.602																																					p.E77D	NSCLC(180;1396 2109 28270 30756 34275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	1						.						37.0	40.0	39.0					1																	26507226		2203	4300	6503	26379813	SO:0001583	missense	10256	exon3			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.231G>T	1.37:g.26507226G>T	ENSP00000363371:p.Glu77Asp		26379813	NM_006314	B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932174	0.34096	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.19394	2.15;2.15	4.93	0.678	0.17969	Sterile alpha motif/pointed domain (1);	0.106535	0.64402	N	0.000007	T	0.15435	0.0372	L	0.46157	1.445	0.80722	D	1	B;B	0.15141	0.012;0.012	B;B	0.12156	0.004;0.007	T	0.06752	-1.0809	10	0.36615	T	0.2	-13.0432	6.3268	0.21248	0.1703:0.3009:0.5288:0.0	.	77;77	Q969H4;Q53GM7	CNKR1_HUMAN;.	D	77	ENSP00000354609:E77D;ENSP00000363371:E77D	ENSP00000354609:E77D	E	+	3	2	CNKSR1	26379813	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.855000	0.27805	0.253000	0.21552	0.655000	0.94253	GAG		0.602	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
CATSPER4	378807	broad.mit.edu	37	1	26517801	26517801	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26517801C>A	ENST00000456354.2	+	2	304	c.237C>A	c.(235-237)ttC>ttA	p.F79L		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	79					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.F79L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGGAGTTCATCACTCACA	0.572																																					p.F79L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C237A	1						.						86.0	69.0	75.0					1																	26517801		2203	4300	6503	26390388	SO:0001583	missense	378807	exon2			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.237C>A	1.37:g.26517801C>A	ENSP00000390423:p.Phe79Leu		26390388	NM_198137	A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689529	0.48097	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97505	-4.41;-4.41	5.54	5.54	0.83059	.	0.115928	0.39146	N	0.001448	D	0.94918	0.8357	L	0.46157	1.445	0.28346	N	0.921111	B	0.24483	0.104	B	0.27608	0.081	D	0.88525	0.3099	10	0.28530	T	0.3	-21.2386	14.9749	0.71264	0.0:1.0:0.0:0.0	.	79	Q7RTX7	CTSR4_HUMAN	L	79	ENSP00000341006:F79L;ENSP00000390423:F79L	ENSP00000341006:F79L	F	+	3	2	CATSPER4	26390388	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	2.739000	0.47409	2.595000	0.87683	0.462000	0.41574	TTC		0.572	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	
CATSPER4	378807	broad.mit.edu	37	1	26524225	26524225	+	Missense_Mutation	SNP	C	C	T	rs144083626	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26524225C>T	ENST00000456354.2	+	4	575	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	170					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.R170W(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTCTTGCGGTTCTTCAT	0.542													C|||	2	0.000399361	0.0	0.0	5008	,	,		21666	0.002		0.0	False		,,,				2504	0.0				p.R170W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508T	1						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	88.0	94.0		508	-0.8	0.9	1	dbSNP_134	94	0,8600		0,0,4300	no	missense	CATSPER4	NM_198137.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	170/473	26524225	1,13005	2203	4300	6503	26396812	SO:0001583	missense	378807	exon4			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.508C>T	1.37:g.26524225C>T	ENSP00000390423:p.Arg170Trp		26396812	NM_198137	A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.31	3.357125	0.61293	2.27E-4	0.0	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98437	-4.93;-4.93	5.1	-0.771	0.11002	Ion transport (1);	0.614157	0.14390	N	0.322563	D	0.93893	0.8046	N	0.08118	0	0.09310	N	0.999999	D	0.56287	0.975	P	0.51229	0.663	D	0.88996	0.3418	10	0.87932	D	0	-15.2581	2.7719	0.05337	0.0885:0.296:0.3237:0.2918	.	170	Q7RTX7	CTSR4_HUMAN	W	170	ENSP00000341006:R170W;ENSP00000390423:R170W	ENSP00000341006:R170W	R	+	1	2	CATSPER4	26396812	0.852000	0.29690	0.882000	0.34594	0.083000	0.17756	0.668000	0.25127	0.130000	0.18549	-0.256000	0.11100	CGG		0.542	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137	
CEP85	64793	broad.mit.edu	37	1	26603764	26603764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26603764G>T	ENST00000252992.4	+	14	2400	c.2269G>T	c.(2269-2271)Gaa>Taa	p.E757*	CEP85_ENST00000451429.2_Nonsense_Mutation_p.E706*|SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000469609.1_3'UTR	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	757						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.E757K(1)|p.E757*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGACATGGGAGAAAACTGTGT	0.517																																					p.E757X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G2269T	1						.						99.0	97.0	98.0					1																	26603764		2203	4300	6503	26476351	SO:0001587	stop_gained	64793	exon14			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2269G>T	1.37:g.26603764G>T	ENSP00000252992:p.Glu757*		26476351	NM_022778	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	ENST00000252992.4	37	CCDS277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.184806|8.184806	0.98696|0.98696	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000453146|ENST00000451429;ENST00000252992	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.152203|0.152203	0.64402|0.64402	D|D	0.000010|0.000010	T|.	0.82093|.	0.4962|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.83109|.	-0.0124|.	5|.	.|0.87932	.|D	.|0	-7.9417|-7.9417	20.2963|20.2963	0.98556|0.98556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	429|706;757	.|.	.|ENSP00000252992:E757X	E|E	+|+	3|1	2|0	CEP85|CEP85	26476351|26476351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.517	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778	
UBXN11	91544	broad.mit.edu	37	1	26609036	26609036	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:26609036C>A	ENST00000374222.1	-	16	1781	c.1317G>T	c.(1315-1317)gaG>gaT	p.E439D	UBXN11_ENST00000374223.1_Missense_Mutation_p.E196D|UBXN11_ENST00000314675.7_Missense_Mutation_p.E319D|UBXN11_ENST00000374221.3_Missense_Mutation_p.E439D|UBXN11_ENST00000374217.2_Missense_Mutation_p.E406D|UBXN11_ENST00000357089.4_Missense_Mutation_p.E406D			Q5T124	UBX11_HUMAN	UBX domain protein 11	439	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E439D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TGCTGAAGATCTCAAAGGCAG	0.652																																					p.E319D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G957T	1						.						100.0	113.0	109.0					1																	26609036		2108	4223	6331	26481623	SO:0001583	missense	91544	exon11			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1317G>T	1.37:g.26609036C>A	ENSP00000363339:p.Glu439Asp		26481623	NM_001077262	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915242	0.33815	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.99	1.58	0.23477	UBX (2);	0.162427	0.53938	D	0.000041	T	0.41465	0.1160	L	0.37630	1.12	0.80722	D	1	B;B;B;D	0.76494	0.347;0.347;0.394;0.999	B;B;B;P	0.60886	0.146;0.146;0.168;0.88	T	0.19976	-1.0289	10	0.17832	T	0.49	-29.9228	7.2152	0.25955	0.0:0.6777:0.1445:0.1778	.	406;401;319;439	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	D	319;196;406;439;439;406	ENSP00000324721:E319D;ENSP00000363340:E196D;ENSP00000349601:E406D;ENSP00000363338:E439D;ENSP00000363339:E439D;ENSP00000363334:E406D	ENSP00000324721:E319D	E	-	3	2	UBXN11	26481623	0.985000	0.35326	1.000000	0.80357	0.859000	0.49053	0.019000	0.13444	1.061000	0.40601	0.561000	0.74099	GAG		0.652	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345	
PIGV	55650	broad.mit.edu	37	1	27121172	27121172	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27121172C>A	ENST00000374145.1	+	3	1329	c.647C>A	c.(646-648)tCt>tAt	p.S216Y	PIGV_ENST00000078527.4_Missense_Mutation_p.S216Y|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	216					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.S216Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTCATGCATTCTCAATGCCAA	0.527																																					p.S216Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647A	1						.						100.0	97.0	98.0					1																	27121172		2203	4300	6503	26993759	SO:0001583	missense	55650	exon3			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.647C>A	1.37:g.27121172C>A	ENSP00000363260:p.Ser216Tyr		26993759	NM_017837	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	CCDS287.1	.	.	.	.	.	.	.	.	.	.	c	7.508	0.654142	0.14580	.	.	ENSG00000060642	ENST00000078527;ENST00000374145	D;D	0.83591	-1.74;-1.74	5.52	4.55	0.56014	.	0.308183	0.36101	N	0.002792	T	0.73148	0.3550	L	0.42487	1.325	0.80722	D	1	B	0.33318	0.408	B	0.33960	0.173	T	0.68769	-0.5321	9	.	.	.	-11.451	5.9267	0.19116	0.1416:0.6483:0.1367:0.0735	.	216	Q9NUD9	PIGV_HUMAN	Y	216	ENSP00000078527:S216Y;ENSP00000363260:S216Y	.	S	+	2	0	PIGV	26993759	0.918000	0.31147	1.000000	0.80357	0.726000	0.41606	1.766000	0.38491	2.602000	0.87976	0.558000	0.71614	TCT		0.527	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837	
GPATCH3	63906	broad.mit.edu	37	1	27226593	27226593	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27226593G>A	ENST00000361720.5	-	1	364	c.341C>T	c.(340-342)gCt>gTt	p.A114V		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	114							nucleic acid binding (GO:0003676)	p.A114V(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCCTCTGAGCTTGAGCCAA	0.612																																					p.A114V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	1						.						72.0	74.0	73.0					1																	27226593		2203	4300	6503	27099180	SO:0001583	missense	63906	exon1			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.341C>T	1.37:g.27226593G>A	ENSP00000354645:p.Ala114Val		27099180	NM_022078	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829237	0.32329	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.29142	1.58	5.36	5.36	0.76844	.	0.054215	0.85682	D	0.000000	T	0.22898	0.0553	L	0.37630	1.12	0.53005	D	0.999969	P	0.45126	0.851	B	0.37550	0.253	T	0.03139	-1.1068	10	0.13853	T	0.58	-23.0226	15.9531	0.79859	0.0:0.0:1.0:0.0	.	114	Q96I76	GPTC3_HUMAN	V	114	ENSP00000354645:A114V	ENSP00000354645:A114V	A	-	2	0	GPATCH3	27099180	1.000000	0.71417	0.995000	0.50966	0.414000	0.31173	4.189000	0.58358	2.763000	0.94921	0.655000	0.94253	GCT		0.612	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078	
FAM46B	115572	broad.mit.edu	37	1	27333166	27333166	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27333166C>T	ENST00000289166.5	-	2	712	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	183								p.D182N(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGGTCCGAGTCTGTGCACACT	0.567																																					p.D183N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	1						.						137.0	133.0	134.0					1																	27333166		2203	4300	6503	27205753	SO:0001583	missense	115572	exon2			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.547G>A	1.37:g.27333166C>T	ENSP00000289166:p.Asp183Asn		27205753	NM_052943		Missense_Mutation	SNP	ENST00000289166.5	37	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800290	0.90538	.	.	ENSG00000158246	ENST00000289166	T	0.28069	1.63	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.136427	0.64402	D	0.000003	T	0.56834	0.2012	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.53947	-0.8366	10	0.39692	T	0.17	-41.8921	18.9114	0.92487	0.0:1.0:0.0:0.0	.	183	Q96A09	FA46B_HUMAN	N	183	ENSP00000289166:D183N	ENSP00000289166:D183N	D	-	1	0	FAM46B	27205753	1.000000	0.71417	0.800000	0.32199	0.833000	0.47200	7.647000	0.83462	2.698000	0.92095	0.561000	0.74099	GAC		0.567	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943	
SLC9A1	6548	broad.mit.edu	37	1	27429031	27429031	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27429031C>A	ENST00000263980.3	-	8	2240	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.K216N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	555					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.K555N(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCACATATTTCTTATTAAACC	0.587											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K555N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1665T	1						.						77.0	84.0	82.0					1																	27429031		2203	4300	6503	27301618	SO:0001583	missense	6548	exon8			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1665G>T	1.37:g.27429031C>A	ENSP00000263980:p.Lys555Asn	794	27301618	NM_003047	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815905	0.32145	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949	T;T	0.48522	0.81;1.37	5.04	5.04	0.67666	.	0.046547	0.85682	D	0.000000	T	0.33381	0.0861	L	0.31294	0.92	0.58432	D	0.999999	B	0.24721	0.11	B	0.15870	0.014	T	0.20840	-1.0263	10	0.02654	T	1	.	18.1634	0.89717	0.0:1.0:0.0:0.0	.	555	P19634	SL9A1_HUMAN	N	555;59;216	ENSP00000263980:K555N;ENSP00000445520:K216N	ENSP00000263980:K555N	K	-	3	2	SLC9A1	27301618	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.917000	0.39996	2.623000	0.88846	0.561000	0.74099	AAG		0.587	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047	
WDTC1	23038	broad.mit.edu	37	1	27609931	27609931	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27609931C>A	ENST00000319394.3	+	5	817	c.282C>A	c.(280-282)ttC>ttA	p.F94L	WDTC1_ENST00000361771.3_Missense_Mutation_p.F94L	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	94					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.F94L(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAAATATCTTCTCTGTCAAGG	0.557																																					p.F94L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C282A	1						.						66.0	55.0	59.0					1																	27609931		2203	4300	6503	27482518	SO:0001583	missense	23038	exon5			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.282C>A	1.37:g.27609931C>A	ENSP00000317971:p.Phe94Leu		27482518	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.676655	0.88445	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.58797	0.31;0.31	5.35	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71879	0.3392	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.71293	-0.4636	10	0.41790	T	0.15	.	9.0549	0.36399	0.0:0.8091:0.0:0.1909	.	94;94	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	L	94	ENSP00000317971:F94L;ENSP00000355317:F94L	ENSP00000317971:F94L	F	+	3	2	WDTC1	27482518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.928000	0.48908	1.222000	0.43521	0.655000	0.94253	TTC		0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
WDTC1	23038	broad.mit.edu	37	1	27630276	27630276	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:27630276T>G	ENST00000319394.3	+	14	2168	c.1633T>G	c.(1633-1635)Ttc>Gtc	p.F545V	WDTC1_ENST00000361771.3_Missense_Mutation_p.F544V	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	545					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.F544V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		AGAGGCCAATTTCTTTGGCAG	0.557																																					p.F544V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1630G	1						.						77.0	76.0	76.0					1																	27630276		2203	4300	6503	27502863	SO:0001583	missense	23038	exon14			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1633T>G	1.37:g.27630276T>G	ENSP00000317971:p.Phe545Val		27502863	NM_015023	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	ENST00000319394.3	37		.	.	.	.	.	.	.	.	.	.	T	26.0	4.690976	0.88735	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.80653	-1.4;-1.4	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93377	0.6740	10	0.87932	D	0	.	13.5987	0.62007	0.0:0.0:0.0:1.0	.	545;544	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	V	545;544	ENSP00000317971:F545V;ENSP00000355317:F544V	ENSP00000317971:F545V	F	+	1	0	WDTC1	27502863	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.635000	0.83286	1.809000	0.52856	0.459000	0.35465	TTC		0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
PHACTR4	65979	broad.mit.edu	37	1	28786740	28786740	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:28786740T>C	ENST00000373839.3	+	4	469	c.208T>C	c.(208-210)Tct>Cct	p.S70P	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S80P	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	70					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S80P(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGAAAATATCTATGCGAAA	0.378																																					p.S80P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T238C	1						.						83.0	80.0	81.0					1																	28786740		1833	4076	5909	28659327	SO:0001583	missense	65979	exon3			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.208T>C	1.37:g.28786740T>C	ENSP00000362945:p.Ser70Pro		28659327	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742574	0.89573	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.33865	1.39;1.39	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.66838	-0.5822	10	0.87932	D	0	-6.5909	14.8061	0.69956	0.0:0.0:0.0:1.0	.	80;70;54	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	P	70;80;69	ENSP00000362945:S70P;ENSP00000362942:S80P	ENSP00000362942:S80P	S	+	1	0	PHACTR4	28659327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.166000	0.77553	2.101000	0.63845	0.454000	0.30748	TCT		0.378	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
PHACTR4	65979	broad.mit.edu	37	1	28792236	28792236	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:28792236G>T	ENST00000373839.3	+	5	573	c.312G>T	c.(310-312)aaG>aaT	p.K104N	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.K114N	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	104					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.K114N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGTTAAAGAATGGCCATA	0.458																																					p.K114N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G342T	1						.						154.0	145.0	147.0					1																	28792236		1914	4130	6044	28664823	SO:0001583	missense	65979	exon4			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.312G>T	1.37:g.28792236G>T	ENSP00000362945:p.Lys104Asn		28664823	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266769	0.80358	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.35789	1.29;1.29	5.55	3.7	0.42460	.	0.102039	0.64402	D	0.000003	T	0.35941	0.0949	L	0.32530	0.975	0.45250	D	0.998257	D;P;P	0.55800	0.973;0.954;0.928	P;B;P	0.54270	0.747;0.439;0.526	T	0.03898	-1.0994	10	0.22706	T	0.39	-3.1193	9.3965	0.38406	0.1663:0.0:0.8337:0.0	.	114;104;88	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	N	104;114;103	ENSP00000362945:K104N;ENSP00000362942:K114N	ENSP00000362942:K114N	K	+	3	2	PHACTR4	28664823	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.342000	0.43992	0.716000	0.32124	0.655000	0.94253	AAG		0.458	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
RCC1	1104	broad.mit.edu	37	1	28862888	28862888	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:28862888C>T	ENST00000373833.6	+	11	1217	c.932C>T	c.(931-933)tCg>tTg	p.S311L	RCC1_ENST00000398958.2_Missense_Mutation_p.S311L|RCC1_ENST00000373831.3_Missense_Mutation_p.S342L|RCC1_ENST00000373832.1_Missense_Mutation_p.S311L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	311					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S311L(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGCATGGATTCGGAAGGTAGG	0.542																																					p.S311L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	1						.						128.0	130.0	129.0					1																	28862888		2203	4300	6503	28735475	SO:0001583	missense	1104	exon8			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.932C>T	1.37:g.28862888C>T	ENSP00000362939:p.Ser311Leu		28735475	NM_001269	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169631	0.78452	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.117044	0.64402	D	0.000014	T	0.78830	0.4345	M	0.67625	2.065	0.80722	D	1	P;D;D	0.60575	0.952;0.987;0.988	B;B;B	0.38880	0.099;0.284;0.203	T	0.80872	-0.1188	10	0.42905	T	0.14	-8.6946	18.6252	0.91334	0.0:1.0:0.0:0.0	.	342;328;311	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	L	311;311;311;342;328	ENSP00000381931:S311L;ENSP00000362939:S311L;ENSP00000362938:S311L;ENSP00000362937:S342L;ENSP00000413644:S328L	ENSP00000362937:S342L	S	+	2	0	RCC1	28735475	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	5.644000	0.67902	2.741000	0.93983	0.655000	0.94253	TCG		0.542	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
TRNAU1AP	54952	broad.mit.edu	37	1	28893924	28893924	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:28893924G>A	ENST00000373830.3	+	6	555	c.529G>A	c.(529-531)Gcg>Acg	p.A177T		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	177					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A177T(1)		breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AATCCCTAAAGCGTGAGTCCT	0.567																																					p.A177T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	1						.						97.0	94.0	95.0					1																	28893924		2203	4300	6503	28766511	SO:0001630	splice_region_variant	54952	exon6				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.530+1G>A	1.37:g.28893924G>A			28766511	NM_017846	Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	CCDS324.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623730	0.46840	.	.	ENSG00000180098	ENST00000373830	T	0.22945	1.93	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);	0.462756	0.23670	N	0.045726	T	0.14399	0.0348	N	0.04508	-0.205	0.44515	D	0.997466	B	0.06786	0.001	B	0.06405	0.002	T	0.08576	-1.0715	10	0.38643	T	0.18	.	16.1679	0.81785	0.0:0.0:1.0:0.0	.	177	Q9NX07	TSAP1_HUMAN	T	177	ENSP00000362936:A177T	ENSP00000362936:A177T	A	+	1	0	TRNAU1AP	28766511	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.329000	0.72920	2.672000	0.90937	0.643000	0.83706	GCG		0.567	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846	Missense_Mutation
YTHDF2	51441	broad.mit.edu	37	1	29070485	29070485	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:29070485A>G	ENST00000373812.3	+	4	2065	c.1703A>G	c.(1702-1704)gAa>gGa	p.E568G	YTHDF2_ENST00000541996.1_Missense_Mutation_p.E518G|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.E568G	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	568	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.E568G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAAGAAGAAAGTGTTAAA	0.373																																					p.E518G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1553G	1						.						23.0	22.0	22.0					1																	29070485		1725	3732	5457	28943072	SO:0001583	missense	51441	exon3			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1703A>G	1.37:g.29070485A>G	ENSP00000362918:p.Glu568Gly		28943072	NM_001172828	A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172007	0.38315	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996	T;T;T	0.26223	1.75;1.75;1.75	5.79	5.79	0.91817	.	0.092102	0.64402	D	0.000001	T	0.25827	0.0629	L	0.55834	1.745	0.58432	D	0.999999	B	0.34015	0.435	B	0.26202	0.067	T	0.03863	-1.0997	10	0.62326	D	0.03	-4.0074	15.1126	0.72372	1.0:0.0:0.0:0.0	.	568	Q9Y5A9	YTHD2_HUMAN	G	568;568;518	ENSP00000444660:E568G;ENSP00000362918:E568G;ENSP00000439394:E518G	ENSP00000362918:E568G	E	+	2	0	YTHDF2	28943072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.241000	0.95402	2.209000	0.71365	0.523000	0.50628	GAA		0.373	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258	
PTPRU	10076	broad.mit.edu	37	1	29587219	29587219	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:29587219G>A	ENST00000345512.3	+	7	1077	c.948G>A	c.(946-948)ccG>ccA	p.P316P	PTPRU_ENST00000323874.8_Silent_p.P316P|PTPRU_ENST00000428026.2_Silent_p.P316P|PTPRU_ENST00000356870.3_Silent_p.P316P|PTPRU_ENST00000373779.3_Silent_p.P316P|PTPRU_ENST00000460170.2_Silent_p.P316P	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	316	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P316P(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCGACGGGCCGATCGTGCGCA	0.662																																					p.P316P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G948A	1						.						76.0	72.0	73.0					1																	29587219		2203	4300	6503	29459806	SO:0001819	synonymous_variant	10076	exon7			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.948G>A	1.37:g.29587219G>A			29459806	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																				0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
PTPRU	10076	broad.mit.edu	37	1	29651782	29651782	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:29651782G>A	ENST00000345512.3	+	30	4351	c.4222G>A	c.(4222-4224)Gtt>Att	p.V1408I	PTPRU_ENST00000323874.8_Missense_Mutation_p.V1404I|PTPRU_ENST00000428026.2_Missense_Mutation_p.V1395I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V1404I|PTPRU_ENST00000373779.3_Missense_Mutation_p.V1398I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V1402I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1408	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1408I(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTGGTGGACGTTTTCTTTGC	0.587																																					p.V1408I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4222A	1						.						121.0	103.0	109.0					1																	29651782		2203	4300	6503	29524369	SO:0001583	missense	10076	exon30			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4222G>A	1.37:g.29651782G>A	ENSP00000334941:p.Val1408Ile		29524369	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790749	0.31685	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.1	3.15	0.36227	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.255680	0.31847	U	0.006970	T	0.70072	0.3182	N	0.25957	0.775	0.43930	D	0.996588	B;B;B;B;B	0.17852	0.02;0.02;0.02;0.024;0.024	B;B;B;B;B	0.19391	0.014;0.014;0.014;0.025;0.025	T	0.63404	-0.6645	9	.	.	.	.	10.056	0.42246	0.1687:0.0:0.8313:0.0	.	1395;1402;1398;1404;1408	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	I	1408;1398;1404;1404;1395;1402	ENSP00000334941:V1408I;ENSP00000362884:V1398I;ENSP00000349333:V1404I;ENSP00000314987:V1404I;ENSP00000392332:V1395I;ENSP00000432906:V1402I	.	V	+	1	0	PTPRU	29524369	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.635000	0.61332	2.097000	0.63578	0.561000	0.74099	GTT		0.587	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
SDC3	9672	broad.mit.edu	37	1	31347355	31347355	+	Silent	SNP	G	G	A	rs374946441		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:31347355G>A	ENST00000339394.6	-	4	1125	c.951C>T	c.(949-951)ttC>ttT	p.F317F	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Silent_p.F259F	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	317					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F317F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCAGCTCGAAGTCTCCAC	0.607																																					p.F317F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C951T	1						.						119.0	125.0	123.0					1																	31347355		2203	4300	6503	31119942	SO:0001819	synonymous_variant	9672	exon4			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.951C>T	1.37:g.31347355G>A			31119942	NM_014654	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	CCDS30661.1																																																																																				0.607	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654	
SPOCD1	90853	broad.mit.edu	37	1	32259463	32259463	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32259463C>T	ENST00000360482.2	-	12	2548	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	SPOCD1_ENST00000257100.3_Missense_Mutation_p.E300K|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E807K	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	807					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.E807K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTGGCGGCTTCGAAGGAGCCT	0.582																																					p.E807K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2419A	1						.						123.0	128.0	126.0					1																	32259463		2203	4300	6503	32032050	SO:0001583	missense	90853	exon12			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2419G>A	1.37:g.32259463C>T	ENSP00000353670:p.Glu807Lys		32032050	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	c	0.629	-0.817814	0.02776	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	T;T;T;T	0.43688	0.97;1.98;0.94;1.97	4.16	-1.47	0.08772	.	.	.	.	.	T	0.09818	0.0241	N	0.00621	-1.32	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.30736	-0.9968	9	0.02654	T	1	1.7983	5.4059	0.16320	0.0:0.3241:0.1458:0.5301	.	807;243;807	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	K	300;807;204;243;807;150	ENSP00000257100:E300K;ENSP00000353670:E807K;ENSP00000399778:E243K;ENSP00000435851:E807K	ENSP00000257100:E300K	E	-	1	0	SPOCD1	32032050	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.158000	0.03153	-0.554000	0.06150	-1.849000	0.00571	GAA		0.582	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
SPOCD1	90853	broad.mit.edu	37	1	32280414	32280414	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32280414G>T	ENST00000360482.2	-	2	650	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S174Y|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S174Y	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	174					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.S174Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ACACCCTGGAGAACTCATTCC	0.622																																					p.S174Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C521A	1						.						64.0	67.0	66.0					1																	32280414		2203	4300	6503	32053001	SO:0001583	missense	90853	exon2			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.521C>A	1.37:g.32280414G>T	ENSP00000353670:p.Ser174Tyr		32053001	NM_144569	Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030404	0.54790	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.35236	1.75;1.32;1.75	3.43	2.51	0.30379	.	.	.	.	.	T	0.31420	0.0796	N	0.08118	0	0.09310	N	1	D;D	0.67145	0.996;0.994	P;P	0.60286	0.872;0.748	T	0.08229	-1.0732	9	0.72032	D	0.01	-2.1458	6.637	0.22889	0.1315:0.0:0.8685:0.0	.	174;174	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	Y	174	ENSP00000353670:S174Y;ENSP00000362752:S174Y;ENSP00000435851:S174Y	ENSP00000353670:S174Y	S	-	2	0	SPOCD1	32053001	0.002000	0.14202	0.040000	0.18447	0.461000	0.32589	1.026000	0.30103	1.020000	0.39573	0.655000	0.94253	TCT		0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
PTP4A2	8073	broad.mit.edu	37	1	32374482	32374482	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32374482C>A	ENST00000602725.1	-	5	892	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	PTP4A2_ENST00000344035.6_Missense_Mutation_p.D159Y|PTP4A2_ENST00000356536.3_3'UTR|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000457805.2_Missense_Mutation_p.D128Y|RP11-84A19.4_ENST00000602889.1_lincRNA			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	159					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.D159Y(1)		kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				CCATTGGTATCTCTGAAGCGT	0.413																																					p.D128Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382T	1						.						189.0	171.0	177.0					1																	32374482		2203	4300	6503	32147069	SO:0001583	missense	8073	exon4			L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.475G>T	1.37:g.32374482C>A	ENSP00000473259:p.Asp159Tyr		32147069	NM_001195101	A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827585	0.90955	.	.	ENSG00000184007	ENST00000344035;ENST00000457805	D;D	0.95342	-3.68;-3.67	5.33	5.33	0.75918	.	0.047241	0.85682	D	0.000000	D	0.96090	0.8726	M	0.81942	2.565	0.80722	D	1	P;P	0.36789	0.57;0.547	P;P	0.46339	0.513;0.501	D	0.95922	0.8931	10	0.54805	T	0.06	-43.0073	18.9822	0.92758	0.0:1.0:0.0:0.0	.	128;159	E9PGJ6;Q12974	.;TP4A2_HUMAN	Y	159;128	ENSP00000344909:D159Y;ENSP00000409260:D128Y	ENSP00000344909:D159Y	D	-	1	0	PTP4A2	32147069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.644000	0.83416	2.663000	0.90544	0.655000	0.94253	GAT		0.413	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391	
KPNA6	23633	broad.mit.edu	37	1	32622505	32622505	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32622505G>A	ENST00000373625.3	+	3	283	c.190G>A	c.(190-192)Gat>Aat	p.D64N	KPNA6_ENST00000545542.1_Missense_Mutation_p.D69N|KPNA6_ENST00000537234.1_Missense_Mutation_p.D61N|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	64					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.D64N(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCCATGTTCGATAGTCTTCT	0.448																																					p.D64N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	1						.						152.0	142.0	146.0					1																	32622505		2203	4300	6503	32395092	SO:0001583	missense	23633	exon3			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.190G>A	1.37:g.32622505G>A	ENSP00000362728:p.Asp64Asn		32395092	NM_012316	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805591	0.70682	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.32515	1.45;1.45;1.45;2.22	5.39	5.39	0.77823	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.044996	0.85682	D	0.000000	T	0.36166	0.0957	M	0.62209	1.925	0.80722	D	1	B;B;B	0.21753	0.06;0.033;0.001	B;B;B	0.17722	0.019;0.013;0.005	T	0.10590	-1.0623	10	0.42905	T	0.14	-13.7165	19.5354	0.95251	0.0:0.0:1.0:0.0	.	69;69;64	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	N	64;38;61;69;15	ENSP00000362728:D64N;ENSP00000444930:D61N;ENSP00000440609:D69N;ENSP00000415677:D15N	ENSP00000362719:D38N	D	+	1	0	KPNA6	32395092	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.952000	0.87827	2.709000	0.92574	0.655000	0.94253	GAT		0.448	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
TXLNA	200081	broad.mit.edu	37	1	32646878	32646878	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32646878C>T	ENST00000373609.1	+	2	486	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	TXLNA_ENST00000373610.3_Missense_Mutation_p.R69C			P40222	TXLNA_HUMAN	taxilin alpha	69					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.R69C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGGGCCCTTCGTGATGTCTC	0.567																																					p.R69C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	1						.						28.0	32.0	31.0					1																	32646878		2202	4300	6502	32419465	SO:0001583	missense	200081	exon3			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.205C>T	1.37:g.32646878C>T	ENSP00000362711:p.Arg69Cys		32419465	NM_175852	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.853033	0.32699	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.28069	1.63;1.63	4.9	-2.83	0.05769	.	0.695915	0.14078	N	0.342954	T	0.10380	0.0254	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18461	-1.0336	10	0.34782	T	0.22	3.1361	5.1633	0.15073	0.2217:0.3175:0.0:0.4608	.	69	P40222	TXLNA_HUMAN	C	69	ENSP00000362712:R69C;ENSP00000362711:R69C	ENSP00000362711:R69C	R	+	1	0	TXLNA	32419465	0.019000	0.18553	0.133000	0.22050	0.771000	0.43674	-0.165000	0.09968	-0.464000	0.06963	-0.188000	0.12872	CGT		0.567	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	
LCK	3932	broad.mit.edu	37	1	32741530	32741530	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32741530C>T	ENST00000336890.5	+	7	635	c.497C>T	c.(496-498)tCg>tTg	p.S166L	LCK_ENST00000373564.3_Missense_Mutation_p.S224L|LCK_ENST00000333070.4_Missense_Mutation_p.S166L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	166	Interaction with PTPRH.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.S166L(1)|p.S224L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TTTTCACTGTCGGTCCGGGAC	0.542			T	TRB@	T-ALL																																p.S166L			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C497T	1						.						82.0	80.0	81.0					1																	32741530		2203	4300	6503	32514117	SO:0001583	missense	3932	exon7			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.497C>T	1.37:g.32741530C>T	ENSP00000337825:p.Ser166Leu		32514117	NM_001042771	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	c	36	5.691188	0.96793	.	.	ENSG00000182866	ENST00000336890;ENST00000495610;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;D;D;T;D	0.95788	1.07;-3.81;-3.81;1.07;-3.81	5.47	5.47	0.80525	SH2 motif (5);	0.000000	0.64402	D	0.000012	D	0.99039	0.9671	H	0.99877	4.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.988;0.996	D	0.98832	1.0751	10	0.87932	D	0	.	18.5462	0.91047	0.0:1.0:0.0:0.0	.	210;224;166;166	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	166;166;210;166;210;224	ENSP00000337825:S166L;ENSP00000435605:S166L;ENSP00000362658:S210L;ENSP00000328213:S166L;ENSP00000362665:S224L	ENSP00000328213:S166L	S	+	2	0	LCK	32514117	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.783000	0.85696	2.764000	0.94973	0.555000	0.69702	TCG		0.542	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
TSSK3	81629	broad.mit.edu	37	1	32828403	32828403	+	Missense_Mutation	SNP	G	G	T	rs145542689		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:32828403G>T	ENST00000373534.3	+	1	606	c.101G>T	c.(100-102)aGa>aTa	p.R34I	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	34	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R34I(1)		NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				AAACACCAAAGAAAAGTGGCA	0.517																																					p.R34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101T	1						.						124.0	132.0	129.0					1																	32828403		2203	4300	6503	32600990	SO:0001583	missense	81629	exon1			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.101G>T	1.37:g.32828403G>T	ENSP00000362634:p.Arg34Ile		32600990	NM_052841	Q5TEE5	Missense_Mutation	SNP	ENST00000373534.3	37	CCDS362.1	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969707	0.18659	.	.	ENSG00000162526	ENST00000373534	T	0.66280	-0.2	5.02	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.311959	0.27710	N	0.018169	T	0.51329	0.1668	L	0.45352	1.415	0.80722	D	1	B	0.15473	0.013	B	0.22152	0.038	T	0.48559	-0.9025	10	0.42905	T	0.14	.	7.4961	0.27490	0.0905:0.1698:0.7397:0.0	.	34	Q96PN8	TSSK3_HUMAN	I	34	ENSP00000362634:R34I	ENSP00000362634:R34I	R	+	2	0	TSSK3	32600990	0.949000	0.32298	1.000000	0.80357	0.996000	0.88848	1.015000	0.29963	1.233000	0.43693	0.563000	0.77884	AGA		0.517	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
ZBTB8A	653121	broad.mit.edu	37	1	33059014	33059014	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33059014C>A	ENST00000373510.4	+	3	711	c.482C>A	c.(481-483)tCt>tAt	p.S161Y	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S161Y	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	161					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.S161Y(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GGAAGCAGTTCTCCACGTTCT	0.403																																					p.S161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482A	1						.						70.0	68.0	68.0					1																	33059014		2203	4300	6503	32831601	SO:0001583	missense	653121	exon3			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.482C>A	1.37:g.33059014C>A	ENSP00000362609:p.Ser161Tyr		32831601	NM_001040441	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062722	0.55432	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.15372	2.49;2.43	5.41	5.41	0.78517	.	0.393637	0.23738	U	0.045046	T	0.22282	0.0537	N	0.19112	0.55	0.47245	D	0.999364	D;D	0.57571	0.979;0.98	P;P	0.52710	0.707;0.547	T	0.01574	-1.1321	10	0.66056	D	0.02	-12.3393	18.571	0.91135	0.0:1.0:0.0:0.0	.	161;161	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	Y	161	ENSP00000362609:S161Y;ENSP00000317561:S161Y	ENSP00000317561:S161Y	S	+	2	0	ZBTB8A	32831601	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.639000	0.67868	2.699000	0.92147	0.650000	0.86243	TCT		0.403	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621	
SYNC	81493	broad.mit.edu	37	1	33160583	33160583	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33160583C>A	ENST00000409190.3	-	2	1574	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N	SYNC_ENST00000373484.3_Missense_Mutation_p.K372N	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	372	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)	p.K41N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAGAGCCTCCTTCATTTCCT	0.567																																					p.K372N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1116T	1						.						116.0	118.0	118.0					1																	33160583		2203	4300	6503	32933170	SO:0001583	missense	81493	exon2			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1116G>T	1.37:g.33160583C>A	ENSP00000386439:p.Lys372Asn		32933170	NM_001161708	B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	CCDS367.2	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406467	0.42715	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.89343	-2.5;-2.5	4.0	0.95	0.19572	Filament (1);	0.268166	0.36665	N	0.002475	D	0.84777	0.5547	N	0.24115	0.695	0.31232	N	0.696208	D;D	0.58268	0.977;0.982	P;P	0.59825	0.787;0.864	T	0.80099	-0.1524	10	0.41790	T	0.15	-16.4699	3.8968	0.09143	0.3312:0.4835:0.0:0.1853	.	372;372	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	N	372	ENSP00000362583:K372N;ENSP00000386439:K372N	ENSP00000362583:K372N	K	-	3	2	SYNC	32933170	0.998000	0.40836	1.000000	0.80357	0.309000	0.27889	0.474000	0.22148	0.277000	0.22141	-0.339000	0.08088	AAG		0.567	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786	
KIAA1522	57648	broad.mit.edu	37	1	33236574	33236574	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33236574G>T	ENST00000373480.1	+	6	1720	c.1617G>T	c.(1615-1617)ctG>ctT	p.L539L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.L550L|KIAA1522_ENST00000401073.2_Silent_p.L598L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	539	Pro-rich.							p.L598L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAAGGGCCTGGCAGGTCCCC	0.667																																					p.L539L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1617T	1						.						46.0	49.0	48.0					1																	33236574		1875	4084	5959	33009161	SO:0001819	synonymous_variant	57648	exon6			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1617G>T	1.37:g.33236574G>T			33009161	NM_001198972	B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	CCDS55588.1																																																																																				0.667	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1		
YARS	8565	broad.mit.edu	37	1	33248102	33248102	+	Silent	SNP	G	G	A	rs201652203		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33248102G>A	ENST00000373477.4	-	9	1853	c.945C>T	c.(943-945)gtC>gtT	p.V315V	YARS_ENST00000469100.1_5'Flank	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	315					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.V315V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGTTCAGTGCGACTTCAACAG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18590	0.001		0.0	False		,,,				2504	0.0				p.V315V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C945T	1						.						103.0	99.0	100.0					1																	33248102		2203	4300	6503	33020689	SO:0001819	synonymous_variant	8565	exon9			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.945C>T	1.37:g.33248102G>A			33020689	NM_003680	B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	CCDS368.1																																																																																				0.483	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680	
FNDC5	252995	broad.mit.edu	37	1	33333804	33333804	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33333804G>T	ENST00000373471.3	-	3	462	c.396C>A	c.(394-396)gcC>gcA	p.A132A	FNDC5_ENST00000609187.1_Silent_p.A57A|FNDC5_ENST00000496770.1_Silent_p.A57A	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	132					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)		p.A57A(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTTCTTGGAGGCCATCTTCT	0.607																																					p.A57A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171A	1						.						112.0	117.0	115.0					1																	33333804		2203	4300	6503	33106391	SO:0001819	synonymous_variant	252995	exon3			AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.396C>A	1.37:g.33333804G>T			33106391	NM_153756	A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Silent	SNP	ENST00000373471.3	37																																																																																					0.607	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756	
AK2	204	broad.mit.edu	37	1	33478979	33478979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33478979G>A	ENST00000373449.2	-	6	564	c.523C>T	c.(523-525)Cga>Tga	p.R175*	AK2_ENST00000467905.1_Nonsense_Mutation_p.R175*|AK2_ENST00000491241.1_5'Flank|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000548033.1_Nonsense_Mutation_p.R133*|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000354858.6_Nonsense_Mutation_p.R175*	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1			adenylate kinase 2											kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCATCTGATCGACGGATCAAG	0.488																																					p.R175X												.	.	0			c.C523T	1	GRCh37	CD090009	ak2b	D		.						64.0	60.0	62.0					1																	33478979		2203	4300	6503	33251566	SO:0001587	stop_gained	204	exon6			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000373449.2:c.523C>T	1.37:g.33478979G>A	ENSP00000362548:p.Arg175*		33251566	NM_001625		Nonsense_Mutation	SNP	ENST00000373449.2	37	CCDS373.1	.	.	.	.	.	.	.	.	.	.	G	37	6.005919	0.97195	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000354858;ENST00000398192	.	.	.	5.17	2.01	0.26516	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9968	14.5641	0.68162	0.0:0.0:0.6009:0.3991	.	.	.	.	X	175;133;175;175;175	.	ENSP00000346921:R175X	R	-	1	2	AK2	33251566	1.000000	0.71417	0.914000	0.36105	0.971000	0.66376	3.990000	0.56965	0.286000	0.22352	0.563000	0.77884	CGA		0.488	AK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011884.1	NM_001625	
ZNF362	149076	broad.mit.edu	37	1	33764631	33764631	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33764631G>A	ENST00000539719.1	+	9	1417	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	ZNF362_ENST00000373428.5_Missense_Mutation_p.R416Q	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	416					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.R416Q(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATCCCGGTGCGAATCTCTCTC	0.672											OREG0013343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R416Q	Pancreas(162;1431 2676 35353 38425)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1247A	1						.						55.0	56.0	56.0					1																	33764631		2203	4300	6503	33537218	SO:0001583	missense	149076	exon9				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.1247G>A	1.37:g.33764631G>A	ENSP00000446335:p.Arg416Gln	842	33537218	NM_152493	Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687958	0.88639	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.08634	3.07;3.07	5.3	5.3	0.74995	.	0.492721	0.15128	N	0.279012	T	0.12860	0.0312	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	P	0.61201	0.885	T	0.37820	-0.9689	10	0.66056	D	0.02	-2.099	16.4466	0.83936	0.0:0.0:1.0:0.0	.	416	Q5T0B9	ZN362_HUMAN	Q	416	ENSP00000446335:R416Q;ENSP00000362527:R416Q	ENSP00000362527:R416Q	R	+	2	0	ZNF362	33537218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.070000	0.64376	2.484000	0.83849	0.655000	0.94253	CGA		0.672	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493	
PHC2	1912	broad.mit.edu	37	1	33841109	33841109	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33841109G>T	ENST00000257118.5	-	1	85	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.S11Y|PHC2_ENST00000431992.1_Missense_Mutation_p.S11Y	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	11	Ser-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S11Y(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCACTGCTAGATGTATGTGG	0.642																																					p.S11Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C32A	1						.						59.0	51.0	54.0					1																	33841109		2203	4300	6503	33613696	SO:0001583	missense	1912	exon1			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.32C>A	1.37:g.33841109G>T	ENSP00000257118:p.Ser11Tyr		33613696	NM_198040	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105931	0.37145	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.36157	1.68;1.27;1.69	5.39	5.39	0.77823	.	0.485757	0.21497	N	0.073597	T	0.37320	0.0999	L	0.53249	1.67	0.42668	D	0.993506	P;P;P	0.38922	0.651;0.651;0.651	B;B;B	0.37833	0.123;0.259;0.123	T	0.36768	-0.9734	10	0.87932	D	0	-0.5667	14.6558	0.68833	0.0:0.0:1.0:0.0	.	11;11;11	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	Y	11	ENSP00000389436:S11Y;ENSP00000257118:S11Y;ENSP00000391440:S11Y	ENSP00000257118:S11Y	S	-	2	0	PHC2	33613696	1.000000	0.71417	0.011000	0.14972	0.293000	0.27360	5.682000	0.68182	2.517000	0.84864	0.462000	0.41574	TCT		0.642	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040	
ZSCAN20	7579	broad.mit.edu	37	1	33960168	33960168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:33960168G>T	ENST00000361328.3	+	8	2377	c.2224G>T	c.(2224-2226)Gaa>Taa	p.E742*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	742					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E742*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAAATGCCTTGAATGTGGAAA	0.468																																					p.E742X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2224T	1						.						93.0	103.0	100.0					1																	33960168		2161	4284	6445	33732755	SO:0001587	stop_gained	7579	exon8			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2224G>T	1.37:g.33960168G>T	ENSP00000355053:p.Glu742*		33732755	NM_145238	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Nonsense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	36	5.927524	0.97110	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	2.97	0.34412	.	0.309865	0.27526	N	0.018964	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.3493	9.6328	0.39789	0.0737:0.268:0.6583:0.0	.	.	.	.	X	742;676;676	.	ENSP00000324450:E742X	E	+	1	0	ZSCAN20	33732755	0.000000	0.05858	0.002000	0.10522	0.697000	0.40408	0.687000	0.25407	0.376000	0.24707	0.561000	0.74099	GAA		0.468	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
CSMD2	114784	broad.mit.edu	37	1	34164401	34164401	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34164401G>T	ENST00000373380.1	-	3	716	c.496C>A	c.(496-498)Ctg>Atg	p.L166M	CSMD2_ENST00000373388.2_De_novo_Start_InFrame|CSMD2_ENST00000373381.4_Missense_Mutation_p.L1293M			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1253	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1253M(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCTCCACTCAGACACAGCAGC	0.592																																					p.L1253M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3757A	1						.						79.0	77.0	78.0					1																	34164401		2203	4300	6503	33936988	SO:0001583	missense	114784	exon24			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.496C>A	1.37:g.34164401G>T	ENSP00000362478:p.Leu166Met		33936988	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	G	17.21	3.331838	0.60853	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.66460	-0.21;-0.21	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000003	T	0.74374	0.3708	L	0.31926	0.97	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.991	D;D;D	0.85130	0.962;0.997;0.959	T	0.67787	-0.5580	10	0.22706	T	0.39	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	166;1253;1293	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	M	1293;166	ENSP00000362479:L1293M;ENSP00000362478:L166M	ENSP00000241312:L1253M	L	-	1	2	CSMD2	33936988	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.360000	0.59455	2.879000	0.98667	0.650000	0.86243	CTG		0.592	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34209162	34209162	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34209162G>T	ENST00000373381.4	-	14	2068	c.1892C>A	c.(1891-1893)tCt>tAt	p.S631Y		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	591	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S591Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTGGGAGACAGGACAAC	0.572																																					p.S591Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1772A	1						.						67.0	73.0	71.0					1																	34209162		2203	4300	6503	33981749	SO:0001583	missense	114784	exon14			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1892C>A	1.37:g.34209162G>T	ENSP00000362479:p.Ser631Tyr		33981749	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	G	27.5	4.839959	0.91117	.	.	ENSG00000121904	ENST00000373381	T	0.60920	0.15	5.58	5.58	0.84498	CUB (5);	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.995	D	0.88705	0.3218	10	0.72032	D	0.01	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	591;631	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Y	631	ENSP00000362479:S631Y	ENSP00000241312:S591Y	S	-	2	0	CSMD2	33981749	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.813000	0.99286	2.782000	0.95742	0.655000	0.94253	TCT		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34258031	34258031	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34258031G>T	ENST00000338325.1	-	5	779	c.367C>A	c.(367-369)Ctc>Atc	p.L123I	CSMD2_ENST00000373381.4_Missense_Mutation_p.L515I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	475	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L475I(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACATGTAGAGAACTGTCTTC	0.562																																					p.L475I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423A	1						.						214.0	170.0	185.0					1																	34258031		2203	4300	6503	34030618	SO:0001583	missense	114784	exon11			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.367C>A	1.37:g.34258031G>T	ENSP00000340311:p.Leu123Ile		34030618	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37		.	.	.	.	.	.	.	.	.	.	G	15.61	2.883642	0.51908	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.19250	2.16;2.16	5.2	5.2	0.72013	CUB (5);	0.065037	0.64402	D	0.000006	T	0.31857	0.0810	L	0.38175	1.15	0.80722	D	1	P;P	0.45240	0.854;0.495	P;B	0.56648	0.803;0.217	T	0.00978	-1.1493	10	0.29301	T	0.29	.	16.2961	0.82769	0.0:0.0:1.0:0.0	.	475;515	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	515;123	ENSP00000362479:L515I;ENSP00000340311:L123I	ENSP00000241312:L475I	L	-	1	0	CSMD2	34030618	1.000000	0.71417	0.989000	0.46669	0.926000	0.56050	5.937000	0.70162	2.466000	0.83321	0.461000	0.40582	CTC		0.562	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896	
HMGB4	127540	broad.mit.edu	37	1	34330292	34330292	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34330292G>T	ENST00000522796.1	+	4	2405	c.500G>T	c.(499-501)aGg>aTg	p.R167M	HMGB4_ENST00000519684.1_Missense_Mutation_p.R167M|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	167						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R167M(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTAATGCCAGGAAGAAGTAC	0.468																																					p.R167M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500T	1						.						62.0	71.0	68.0					1																	34330292		2203	4300	6503	34102879	SO:0001583	missense	127540	exon2				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.500G>T	1.37:g.34330292G>T	ENSP00000430919:p.Arg167Met		34102879	NM_145205	B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088305	0.36855	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.91521	-2.86;-2.86	5.1	1.87	0.25490	.	0.104471	0.37530	U	0.002043	D	0.88276	0.6393	L	0.58101	1.795	0.09310	N	1	B	0.33379	0.41	B	0.40901	0.343	T	0.80781	-0.1229	10	0.62326	D	0.03	.	6.556	0.22460	0.3359:0.0:0.6641:0.0	.	167	B2R4X7	.	M	167	ENSP00000429214:R167M;ENSP00000430919:R167M	ENSP00000429214:R167M	R	+	2	0	HMGB4	34102879	0.007000	0.16637	0.004000	0.12327	0.034000	0.12701	0.105000	0.15333	0.198000	0.20407	0.609000	0.83330	AGG		0.468	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205	
C1orf94	84970	broad.mit.edu	37	1	34666509	34666509	+	Silent	SNP	G	G	A	rs371680483		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:34666509G>A	ENST00000488417.1	+	3	1266	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	C1orf94_ENST00000373374.3_Silent_p.P192P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	382								p.P192P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGACCCTGCCGCCCAAGAAAC	0.592																																					p.P192P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G576A	1						.	G	,	0,4406		0,0,2203	58.0	57.0	58.0		1146,576	-11.5	0.0	1		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C1orf94	NM_001134734.1,NM_032884.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	382/599,192/409	34666509	1,13005	2203	4300	6503	34439096	SO:0001819	synonymous_variant	84970	exon3			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1146G>A	1.37:g.34666509G>A			34439096	NM_032884	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	CCDS44108.1																																																																																				0.592	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884	
DLGAP3	58512	broad.mit.edu	37	1	35365313	35365313	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35365313C>T	ENST00000373347.1	-	5	1611	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R448Q			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.R448Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GATGGAGCTCCGGGGGTGGAT	0.582																																					p.R448Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	1						.						77.0	84.0	82.0					1																	35365313		2203	4300	6503	35137900	SO:0001583	missense	58512	exon3			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1343G>A	1.37:g.35365313C>T	ENSP00000362444:p.Arg448Gln		35137900	NM_001080418	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277690	0.59758	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.30714	1.52;1.52	4.84	4.84	0.62591	.	0.126835	0.53938	D	0.000049	T	0.21062	0.0507	L	0.45228	1.405	0.42732	D	0.99371	P	0.49253	0.921	B	0.32211	0.142	T	0.06481	-1.0824	10	0.51188	T	0.08	-14.449	11.5997	0.50995	0.0:0.9183:0.0:0.0817	.	448	O95886	DLGP3_HUMAN	Q	448;448;131	ENSP00000362444:R448Q;ENSP00000235180:R448Q	ENSP00000235180:R448Q	R	-	2	0	DLGAP3	35137900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.905000	0.56333	2.518000	0.84900	0.563000	0.77884	CGG		0.582	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234	
ZMYM1	79830	broad.mit.edu	37	1	35578720	35578720	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35578720C>A	ENST00000373330.1	+	11	1463	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S430Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	430						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S430Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATATGAAATCTATGAAAATA	0.343																																					p.S430Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289A	1						.						66.0	62.0	63.0					1																	35578720		1862	4109	5971	35351307	SO:0001583	missense	79830	exon10			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1289C>A	1.37:g.35578720C>A	ENSP00000362427:p.Ser430Tyr		35351307	NM_024772	D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736854	0.49045	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.25414	1.8;2.5;2.24;2.5	4.69	4.69	0.59074	.	0.277612	0.26428	N	0.024436	T	0.42720	0.1215	L	0.56769	1.78	0.30146	N	0.803486	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.21552	-1.0242	10	0.33940	T	0.23	-13.4706	13.4323	0.61062	0.0:1.0:0.0:0.0	.	411;430	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Y	430;430;355;430	ENSP00000394233:S430Y;ENSP00000352920:S430Y;ENSP00000362426:S355Y;ENSP00000362427:S430Y	ENSP00000352920:S430Y	S	+	2	0	ZMYM1	35351307	0.994000	0.37717	0.833000	0.33012	0.373000	0.29922	1.863000	0.39459	2.894000	0.99253	0.655000	0.94253	TCT		0.343	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
SFPQ	6421	broad.mit.edu	37	1	35653593	35653593	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35653593C>T	ENST00000357214.5	-	7	1894	c.1796G>A	c.(1795-1797)cGa>cAa	p.R599Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	599					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R599Q(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GTAGCCCATTCGGCTGTAACT	0.443			T	TFE3	papillary renal cell																																p.R599Q			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1796A	1						.						354.0	311.0	326.0					1																	35653593		2203	4300	6503	35426180	SO:0001583	missense	6421	exon7			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1796G>A	1.37:g.35653593C>T	ENSP00000349748:p.Arg599Gln		35426180	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817677	0.90790	.	.	ENSG00000116560	ENST00000357214	T	0.40225	1.04	5.81	5.81	0.92471	.	0.048871	0.85682	D	0.000000	T	0.43433	0.1247	N	0.22421	0.69	0.46678	D	0.99915	D	0.76494	0.999	P	0.53006	0.715	T	0.10291	-1.0636	10	0.21540	T	0.41	-6.5829	20.0656	0.97703	0.0:1.0:0.0:0.0	.	599	P23246	SFPQ_HUMAN	Q	599	ENSP00000349748:R599Q	ENSP00000349748:R599Q	R	-	2	0	SFPQ	35426180	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.578000	0.82498	2.752000	0.94435	0.555000	0.69702	CGA		0.443	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
SFPQ	6421	broad.mit.edu	37	1	35654859	35654859	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35654859C>T	ENST00000357214.5	-	5	1638	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	514					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D514N(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTTTGCATCTTTCATGTTT	0.398			T	TFE3	papillary renal cell																																p.D514N			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1540A	1						.						209.0	156.0	174.0					1																	35654859		2203	4300	6503	35427446	SO:0001583	missense	6421	exon5			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1540G>A	1.37:g.35654859C>T	ENSP00000349748:p.Asp514Asn		35427446	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719457	0.96839	.	.	ENSG00000116560	ENST00000357214	D	0.92348	-3.02	5.84	5.84	0.93424	.	0.048753	0.85682	D	0.000000	D	0.91878	0.7429	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	D	0.92567	0.6063	10	0.59425	D	0.04	-31.2446	20.1346	0.98019	0.0:1.0:0.0:0.0	.	514	P23246	SFPQ_HUMAN	N	514	ENSP00000349748:D514N	ENSP00000349748:D514N	D	-	1	0	SFPQ	35427446	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.724000	0.84798	2.765000	0.95021	0.655000	0.94253	GAT		0.398	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
SFPQ	6421	broad.mit.edu	37	1	35656952	35656952	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35656952A>C	ENST00000357214.5	-	2	1105	c.1007T>G	c.(1006-1008)tTt>tGt	p.F336C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	336	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F336C(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AAGCTTAATAAATCCGAATCC	0.353			T	TFE3	papillary renal cell																																p.F336C			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1007G	1						.						85.0	86.0	86.0					1																	35656952		2203	4300	6503	35429539	SO:0001583	missense	6421	exon2			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1007T>G	1.37:g.35656952A>C	ENSP00000349748:p.Phe336Cys		35429539	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443109	0.83993	.	.	ENSG00000116560	ENST00000357214	T	0.32988	1.43	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83956	0.0319	10	0.87932	D	0	-8.2348	15.1818	0.72965	1.0:0.0:0.0:0.0	.	336	P23246	SFPQ_HUMAN	C	336	ENSP00000349748:F336C	ENSP00000349748:F336C	F	-	2	0	SFPQ	35429539	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.281000	0.95811	1.972000	0.57404	0.455000	0.32223	TTT		0.353	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
ZMYM4	9202	broad.mit.edu	37	1	35790972	35790972	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35790972A>C	ENST00000314607.6	+	2	131	c.51A>C	c.(49-51)aaA>aaC	p.K17N	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K17N	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	17					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K17N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGAACAAAAAAGTGGTGCAG	0.328																																					p.K17N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A51C	1						.						152.0	156.0	155.0					1																	35790972		2202	4298	6500	35563559	SO:0001583	missense	9202	exon2			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.51A>C	1.37:g.35790972A>C	ENSP00000322915:p.Lys17Asn		35563559	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474722	0.63737	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.32023	1.64;1.47	4.53	3.19	0.36642	.	0.479765	0.17252	U	0.181124	T	0.33818	0.0876	N	0.24115	0.695	0.30676	N	0.752846	P	0.51653	0.947	D	0.67231	0.95	T	0.20940	-1.0260	10	0.72032	D	0.01	-2.966	4.5504	0.12108	0.8156:0.0:0.1844:0.0	.	17	Q5VZL5	ZMYM4_HUMAN	N	17	ENSP00000322915:K17N;ENSP00000362394:K17N	ENSP00000322915:K17N	K	+	3	2	ZMYM4	35563559	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.518000	0.45537	1.812000	0.52913	0.377000	0.23210	AAA		0.328	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
ZMYM4	9202	broad.mit.edu	37	1	35851049	35851049	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35851049G>A	ENST00000314607.6	+	10	1656	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	526					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A526T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAGAAATCAGCCAAAATTAC	0.318																																					p.A526T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	1						.						73.0	78.0	76.0					1																	35851049		2203	4300	6503	35623636	SO:0001583	missense	9202	exon10			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1576G>A	1.37:g.35851049G>A	ENSP00000322915:p.Ala526Thr		35623636	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217039	0.39201	.	.	ENSG00000146463	ENST00000314607	T	0.22134	1.97	5.11	4.19	0.49359	.	0.377489	0.29624	N	0.011626	T	0.22627	0.0546	L	0.48986	1.54	0.80722	D	1	B	0.28783	0.222	B	0.33196	0.159	T	0.03025	-1.1081	10	0.28530	T	0.3	-2.4072	13.7386	0.62833	0.0752:0.0:0.9248:0.0	.	526	Q5VZL5	ZMYM4_HUMAN	T	526	ENSP00000322915:A526T	ENSP00000322915:A526T	A	+	1	0	ZMYM4	35623636	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.038000	0.64177	1.267000	0.44247	0.543000	0.68304	GCC		0.318	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
ZMYM4	9202	broad.mit.edu	37	1	35884071	35884071	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:35884071G>A	ENST00000314607.6	+	29	4417	c.4337G>A	c.(4336-4338)cGa>cAa	p.R1446Q	ZMYM4_ENST00000373297.2_Missense_Mutation_p.R1357Q	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1446					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1446Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGAGGAAACGAAATGAAGAT	0.393																																					p.R1446Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4337A	1						.						121.0	113.0	116.0					1																	35884071		2203	4300	6503	35656658	SO:0001583	missense	9202	exon29			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.4337G>A	1.37:g.35884071G>A	ENSP00000322915:p.Arg1446Gln		35656658	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584390	0.96578	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25085	1.82;1.85	5.84	5.84	0.93424	.	0.315320	0.33959	N	0.004389	T	0.47525	0.1450	L	0.55481	1.735	0.50313	D	0.999864	D	0.69078	0.997	D	0.63283	0.913	T	0.34800	-0.9814	10	0.72032	D	0.01	-7.1968	20.1381	0.98040	0.0:0.0:1.0:0.0	.	1446	Q5VZL5	ZMYM4_HUMAN	Q	1446;1357	ENSP00000322915:R1446Q;ENSP00000362394:R1357Q	ENSP00000322915:R1446Q	R	+	2	0	ZMYM4	35656658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.763000	0.94921	0.650000	0.86243	CGA		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
CLSPN	63967	broad.mit.edu	37	1	36204751	36204751	+	Missense_Mutation	SNP	C	C	T	rs375345515		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36204751C>T	ENST00000318121.3	-	20	3473	c.3416G>A	c.(3415-3417)cGa>cAa	p.R1139Q	RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000251195.5_Missense_Mutation_p.R1139Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.R1075Q|CLSPN_ENST00000520551.1_Missense_Mutation_p.R1086Q	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1139					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.R1139Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTTTTTCCATCGAAACTTCCT	0.478																																					p.R1075Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3224A	1						.	C	GLN/ARG,GLN/ARG	1,4405		0,1,2202	86.0	80.0	82.0		3224,3416	5.9	1.0	1		82	0,8600		0,0,4300	no	missense,missense	CLSPN	NM_001190481.1,NM_022111.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1075/1276,1139/1340	36204751	1,13005	2203	4300	6503	35977338	SO:0001583	missense	63967	exon19			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3416G>A	1.37:g.36204751C>T	ENSP00000312995:p.Arg1139Gln		35977338	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693278	0.96793	2.27E-4	0.0	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.39592	1.08;1.07;1.15;1.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71144	-0.4678	10	0.72032	D	0.01	-6.7074	20.3827	0.98937	0.0:1.0:0.0:0.0	.	1075;1139	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	1139;1139;1075;1086	ENSP00000251195:R1139Q;ENSP00000312995:R1139Q;ENSP00000362317:R1075Q;ENSP00000428848:R1086Q	ENSP00000251195:R1139Q	R	-	2	0	CLSPN	35977338	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.079000	0.71291	2.823000	0.97156	0.644000	0.83932	CGA		0.478	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
CLSPN	63967	broad.mit.edu	37	1	36215115	36215115	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36215115T>C	ENST00000318121.3	-	12	2282	c.2225A>G	c.(2224-2226)gAa>gGa	p.E742G	CLSPN_ENST00000251195.5_Missense_Mutation_p.E742G|CLSPN_ENST00000373220.3_Missense_Mutation_p.E678G|CLSPN_ENST00000520551.1_Missense_Mutation_p.E689G	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	742					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.E742G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCTGATTTTTCTTCAGTAGG	0.373																																					p.E678G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2033G	1						.						62.0	61.0	61.0					1																	36215115		2203	4300	6503	35987702	SO:0001583	missense	63967	exon11			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2225A>G	1.37:g.36215115T>C	ENSP00000312995:p.Glu742Gly		35987702	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988368	0.74589	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.26518	1.73;1.74;1.78;1.81	5.85	5.85	0.93711	.	0.239919	0.42053	D	0.000773	T	0.35038	0.0918	M	0.69823	2.125	0.42109	D	0.99137	B;P	0.38729	0.114;0.644	B;B	0.43623	0.133;0.425	T	0.11108	-1.0601	10	0.13470	T	0.59	-22.6148	16.5479	0.84454	0.0:0.0:0.0:1.0	.	678;742	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	G	742;742;678;689	ENSP00000251195:E742G;ENSP00000312995:E742G;ENSP00000362317:E678G;ENSP00000428848:E689G	ENSP00000251195:E742G	E	-	2	0	CLSPN	35987702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.251000	0.65438	2.371000	0.80710	0.533000	0.62120	GAA		0.373	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
CLSPN	63967	broad.mit.edu	37	1	36226481	36226481	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36226481G>T	ENST00000318121.3	-	8	1098	c.1041C>A	c.(1039-1041)atC>atA	p.I347I	CLSPN_ENST00000251195.5_Silent_p.I347I|CLSPN_ENST00000373220.3_Silent_p.I347I|CLSPN_ENST00000520551.1_Silent_p.I347I	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	347					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.I347I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGTGTCTATGATTTCTTTGT	0.373																																					p.I347I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041A	1						.						70.0	70.0	70.0					1																	36226481		2147	4266	6413	35999068	SO:0001819	synonymous_variant	63967	exon8			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1041C>A	1.37:g.36226481G>T			35999068	NM_001190481	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	CCDS396.1																																																																																				0.373	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
AGO4	192670	broad.mit.edu	37	1	36282548	36282548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36282548C>T	ENST00000373210.3	+	2	330	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	29					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.R29*(2)									AAAACCAATTCGACTGTTAGC	0.433																																					p.R29X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C85T	1						.						132.0	133.0	133.0					1																	36282548		2203	4300	6503	36055135	SO:0001587	stop_gained	192670	exon2			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.85C>T	1.37:g.36282548C>T	ENSP00000362306:p.Arg29*		36055135	NM_017629	A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398531	0.97533	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.35	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-8.9217	12.9217	0.58237	0.295:0.705:0.0:0.0	.	.	.	.	X	29	.	ENSP00000362306:R29X	R	+	1	2	EIF2C4	36055135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.009000	0.29886	1.206000	0.43276	0.655000	0.94253	CGA		0.433	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	
AGO4	192670	broad.mit.edu	37	1	36315852	36315852	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36315852G>T	ENST00000373210.3	+	16	2515	c.2270G>T	c.(2269-2271)gGa>gTa	p.G757V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	757	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.G757V(1)									AGTCATGCAGGAATTCAGGTA	0.423																																					p.G757V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2270T	1						.						175.0	153.0	161.0					1																	36315852		2203	4300	6503	36088439	SO:0001583	missense	192670	exon16			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2270G>T	1.37:g.36315852G>T	ENSP00000362306:p.Gly757Val		36088439	NM_017629	A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085668	0.76642	.	.	ENSG00000134698	ENST00000373210	T	0.30182	1.54	4.82	4.82	0.62117	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.102515	0.64402	D	0.000002	T	0.57592	0.2064	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63466	-0.6631	10	0.87932	D	0	-1.7539	18.2543	0.90014	0.0:0.0:1.0:0.0	.	757	Q9HCK5	AGO4_HUMAN	V	757	ENSP00000362306:G757V	ENSP00000362306:G757V	G	+	2	0	EIF2C4	36088439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.768000	0.98965	2.361000	0.80049	0.591000	0.81541	GGA		0.423	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	
AGO1	26523	broad.mit.edu	37	1	36358738	36358738	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36358738G>T	ENST00000373204.4	+	4	584	c.371G>T	c.(370-372)cGa>cTa	p.R124L	AGO1_ENST00000373206.1_Missense_Mutation_p.R49L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	124					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R124L(1)									GGGAAGGATCGAATCTTTAAG	0.542																																					p.R124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371T	1						.						98.0	79.0	85.0					1																	36358738		2203	4300	6503	36131325	SO:0001583	missense	26523	exon4			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.371G>T	1.37:g.36358738G>T	ENSP00000362300:p.Arg124Leu		36131325	NM_012199	Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993613	0.74703	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.12147	2.72;2.71	5.63	5.63	0.86233	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.91561	3.22	0.80722	D	1	P	0.46952	0.887	P	0.49528	0.614	T	0.50372	-0.8836	10	0.87932	D	0	-24.8338	19.6727	0.95916	0.0:0.0:1.0:0.0	.	124	Q9UL18	AGO1_HUMAN	L	49;124	ENSP00000362302:R49L;ENSP00000362300:R124L	ENSP00000362300:R124L	R	+	2	0	EIF2C1	36131325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.591000	0.81541	CGA		0.542	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
AGO1	26523	broad.mit.edu	37	1	36385202	36385202	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36385202C>T	ENST00000373204.4	+	19	2781	c.2568C>T	c.(2566-2568)ttC>ttT	p.F856F	AGO1_ENST00000373206.1_Silent_p.F781F	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	856					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.F856F(1)									CCATGTACTTCGCTTGAAGGC	0.592																																					p.F856F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2568T	1						.						53.0	51.0	51.0					1																	36385202		2203	4300	6503	36157789	SO:0001819	synonymous_variant	26523	exon19			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2568C>T	1.37:g.36385202C>T			36157789	NM_012199	Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.592	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		
AGO3	192669	broad.mit.edu	37	1	36439109	36439109	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36439109G>A	ENST00000373191.4	+	5	1004	c.655G>A	c.(655-657)Gat>Aat	p.D219N	AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.D219N|AGO3_ENST00000324350.5_Missense_Mutation_p.D219N	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	219					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.D219N(1)									GCTTAATATCGATGGTAAGGG	0.423																																					p.D219N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G655A	1						.						195.0	194.0	194.0					1																	36439109		2203	4300	6503	36211696	SO:0001583	missense	192669	exon5			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.655G>A	1.37:g.36439109G>A	ENSP00000362287:p.Asp219Asn		36211696	NM_024852	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512528	0.96402	.	.	ENSG00000126070	ENST00000324350;ENST00000373191;ENST00000397828	T;T;T	0.26373	1.74;2.17;1.74	5.62	5.62	0.85841	Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	T	0.48906	-0.8993	10	0.62326	D	0.03	.	19.6679	0.95900	0.0:0.0:1.0:0.0	.	219;219	Q9H9G7;Q5TA56	AGO3_HUMAN;.	N	219	ENSP00000317425:D219N;ENSP00000362287:D219N;ENSP00000380928:D219N	ENSP00000317425:D219N	D	+	1	0	EIF2C3	36211696	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.869000	0.99810	2.650000	0.89964	0.563000	0.77884	GAT		0.423	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852	
ADPRHL2	54936	broad.mit.edu	37	1	36558047	36558047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36558047C>A	ENST00000373178.4	+	5	756	c.726C>A	c.(724-726)taC>taA	p.Y242*		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	242						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.Y242*(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGCGTCCATACTCCAGCCGCC	0.597																																					p.Y242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C726A	1						.						134.0	136.0	135.0					1																	36558047		2203	4300	6503	36330634	SO:0001587	stop_gained	54936	exon5			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.726C>A	1.37:g.36558047C>A	ENSP00000362273:p.Tyr242*		36330634	NM_017825	Q53G94|Q6IAB8|Q9BY47	Nonsense_Mutation	SNP	ENST00000373178.4	37	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247473	0.80024	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	.	.	.	5.55	3.68	0.42216	.	0.185047	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7852	8.201	0.31424	0.0:0.7558:0.0:0.2442	.	.	.	.	X	242;162;88	.	ENSP00000362273:Y242X	Y	+	3	2	ADPRHL2	36330634	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	1.196000	0.32198	1.352000	0.45808	0.650000	0.86243	TAC		0.597	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825	
THRAP3	9967	broad.mit.edu	37	1	36748247	36748247	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36748247C>T	ENST00000354618.5	+	3	307	c.83C>T	c.(82-84)tCg>tTg	p.S28L	THRAP3_ENST00000469141.2_Missense_Mutation_p.S28L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	28	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S28L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTTCATTTTCGAAGTCTCGG	0.463			T	USP6	aneurysmal bone cysts																																p.S28L	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C83T	1						.						123.0	109.0	114.0					1																	36748247		2203	4300	6503	36520834	SO:0001583	missense	9967	exon3			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.83C>T	1.37:g.36748247C>T	ENSP00000346634:p.Ser28Leu		36520834	NM_005119	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966000	0.92855	.	.	ENSG00000054118	ENST00000354618;ENST00000469141;ENST00000478853	T;T	0.15718	2.4;2.4	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000008	T	0.40423	0.1116	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.03863	-1.0997	10	0.72032	D	0.01	-3.9561	19.3309	0.94288	0.0:1.0:0.0:0.0	.	28	Q9Y2W1	TR150_HUMAN	L	28	ENSP00000346634:S28L;ENSP00000433825:S28L	ENSP00000346634:S28L	S	+	2	0	THRAP3	36520834	0.999000	0.42202	0.995000	0.50966	0.990000	0.78478	5.282000	0.65615	2.880000	0.98712	0.650000	0.86243	TCG		0.463	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
STK40	83931	broad.mit.edu	37	1	36808981	36808981	+	Missense_Mutation	SNP	G	G	A	rs534849916		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:36808981G>A	ENST00000373129.3	-	11	1479	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	STK40_ENST00000373132.3_Missense_Mutation_p.A358V|STK40_ENST00000373130.3_Missense_Mutation_p.A363V|STK40_ENST00000359297.2_Missense_Mutation_p.A358V	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	358					glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A358V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGAGCTATCCGCATTGCTCAT	0.617																																					p.A358V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1073T	1						.						83.0	71.0	75.0					1																	36808981		2203	4300	6503	36581568	SO:0001583	missense	83931	exon11			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.1073C>T	1.37:g.36808981G>A	ENSP00000362221:p.Ala358Val		36581568	NM_032017	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	7.014	0.557405	0.13436	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	T;T;T;T	0.62941	-0.01;1.99;1.99;-0.01	5.05	4.13	0.48395	Protein kinase-like domain (1);	0.426382	0.27442	N	0.019345	T	0.40094	0.1103	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.017;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.17440	-1.0369	10	0.26408	T	0.33	-1.1334	12.2012	0.54326	0.1497:0.0:0.8502:0.0	.	358;363;358	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	V	358;358;363;358	ENSP00000362221:A358V;ENSP00000352245:A358V;ENSP00000362222:A363V;ENSP00000362224:A358V	ENSP00000352245:A358V	A	-	2	0	STK40	36581568	0.963000	0.33076	0.011000	0.14972	0.658000	0.38924	3.387000	0.52501	0.649000	0.30751	-0.797000	0.03246	GCG		0.617	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	
GRIK3	2899	broad.mit.edu	37	1	37270752	37270752	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:37270752G>A	ENST00000373091.3	-	15	2417	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R801W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	801					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R801W(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCGCTGCCCCGCCACCACTTC	0.602																																					p.R801W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2401T	1						.						63.0	64.0	63.0					1																	37270752		2203	4300	6503	37043339	SO:0001583	missense	2899	exon15			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2401C>T	1.37:g.37270752G>A	ENSP00000362183:p.Arg801Trp		37043339	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724256	0.68959	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11712	2.75;2.75	4.59	1.34	0.21922	Ionotropic glutamate receptor (2);	0.281781	0.33180	N	0.005194	T	0.25158	0.0611	M	0.69823	2.125	0.41159	D	0.986089	D;D	0.76494	0.999;0.999	D;D	0.63703	0.917;0.917	T	0.01436	-1.1355	10	0.87932	D	0	.	9.3998	0.38426	0.0:0.1309:0.4682:0.4009	.	801;801	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	801	ENSP00000362183:R801W;ENSP00000362185:R801W	ENSP00000362183:R801W	R	-	1	2	GRIK3	37043339	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.088000	0.41663	0.330000	0.23485	0.551000	0.68910	CGG		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
GRIK3	2899	broad.mit.edu	37	1	37291299	37291299	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:37291299G>A	ENST00000373091.3	-	11	1675	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	GRIK3_ENST00000373093.4_Silent_p.S553S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	553					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.S553S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGGAGAAGACGCTGGGGTTGG	0.552																																					p.S553S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1659T	1						.						125.0	123.0	124.0					1																	37291299		2203	4300	6503	37063886	SO:0001819	synonymous_variant	2899	exon11			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1659C>T	1.37:g.37291299G>A			37063886	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.552	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
GRIK3	2899	broad.mit.edu	37	1	37307417	37307417	+	Missense_Mutation	SNP	G	G	A	rs371692662		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:37307417G>A	ENST00000373091.3	-	10	1466	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R484W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	484					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R484W(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCCACCAGCCGGATCTCATAG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21145	0.001		0.0	False		,,,				2504	0.0				p.R484W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1450T	1						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	180.0	166.0	171.0		1450	3.9	1.0	1		171	0,8600		0,0,4300	no	missense	GRIK3	NM_000831.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	484/920	37307417	1,13005	2203	4300	6503	37080004	SO:0001583	missense	2899	exon10			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1450C>T	1.37:g.37307417G>A	ENSP00000362183:p.Arg484Trp		37080004	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605085	0.66445	2.27E-4	0.0	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11930	2.73;2.73	4.86	3.94	0.45596	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.89414	3.03	0.42266	D	0.992034	D;D	0.76494	0.999;0.999	D;D	0.64776	0.929;0.929	T	0.55451	-0.8139	10	0.87932	D	0	.	14.8476	0.70272	0.0:0.0:0.8551:0.1449	.	484;484	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	484	ENSP00000362183:R484W;ENSP00000362185:R484W	ENSP00000362183:R484W	R	-	1	2	GRIK3	37080004	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.756000	0.68757	1.155000	0.42497	0.591000	0.81541	CGG		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
RSPO1	284654	broad.mit.edu	37	1	38082190	38082190	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:38082190G>A	ENST00000401069.1	-	4	964	c.252C>T	c.(250-252)ttC>ttT	p.F84F	RSPO1_ENST00000356545.2_Silent_p.F84F|RSPO1_ENST00000401070.1_Silent_p.F84F|RSPO1_ENST00000401068.1_Silent_p.F84F|RSPO1_ENST00000373059.1_Silent_p.F57F|RSPO1_ENST00000401071.2_Silent_p.F84F	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	84					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.F84F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCGGGCGTCGAAGTATCCAG	0.617																																					p.F84F	GBM(122;680 2230 27822 42821)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	1						.						54.0	58.0	56.0					1																	38082190		2024	4173	6197	37854777	SO:0001819	synonymous_variant	284654	exon5			AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.252C>T	1.37:g.38082190G>A			37854777	NM_001038633	A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Silent	SNP	ENST00000401069.1	37	CCDS41304.1																																																																																				0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640	
MTF1	4520	broad.mit.edu	37	1	38281185	38281185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:38281185C>A	ENST00000373036.4	-	11	2025	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	629					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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)	p.E629*(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATGCCTCTTCTTGTTTGATG	0.582																																					p.E629X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1885T	1						.						57.0	57.0	57.0					1																	38281185		2203	4300	6503	38053772	SO:0001587	stop_gained	4520	exon11			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1885G>T	1.37:g.38281185C>A	ENSP00000362127:p.Glu629*		38053772	NM_005955	B2RAK6|Q96CB1	Nonsense_Mutation	SNP	ENST00000373036.4	37	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	38	6.680742	0.97759	.	.	ENSG00000188786	ENST00000373036	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	X	629	.	ENSP00000362127:E629X	E	-	1	0	MTF1	38053772	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.408000	0.80041	2.817000	0.96982	0.563000	0.77884	GAA		0.582	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955	
RRAGC	64121	broad.mit.edu	37	1	39318142	39318142	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39318142G>T	ENST00000373001.3	-	4	836	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.I220I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AATGGTCATAGATACTAGTCA	0.294																																					p.I220I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660A	1						.						105.0	113.0	110.0					1																	39318142		2203	4299	6502	39090729	SO:0001819	synonymous_variant	64121	exon4			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.660C>A	1.37:g.39318142G>T			39090729	NM_022157		Silent	SNP	ENST00000373001.3	37	CCDS430.1																																																																																				0.294	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157	
RRAGC	64121	broad.mit.edu	37	1	39322619	39322619	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39322619C>A	ENST00000373001.3	-	2	549	c.373G>T	c.(373-375)Gac>Tac	p.D125Y		NM_022157.2	NP_071440.1			Ras-related GTP binding C									p.D125Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAGGTTGGGTCAAAAAAGTCC	0.398																																					p.D125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373T	1						.						137.0	136.0	136.0					1																	39322619		2203	4300	6503	39095206	SO:0001583	missense	64121	exon2			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.373G>T	1.37:g.39322619C>A	ENSP00000362092:p.Asp125Tyr		39095206	NM_022157		Missense_Mutation	SNP	ENST00000373001.3	37	CCDS430.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834806	0.91036	.	.	ENSG00000116954	ENST00000373001	D	0.82803	-1.65	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79108	0.992;0.978;0.923	D	0.93704	0.7018	10	0.87932	D	0	-22.639	20.2625	0.98452	0.0:1.0:0.0:0.0	.	91;59;125	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	Y	125	ENSP00000362092:D125Y	ENSP00000362092:D125Y	D	-	1	0	RRAGC	39095206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.782000	0.95742	0.557000	0.71058	GAC		0.398	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157	
MYCBP	26292	broad.mit.edu	37	1	39332608	39332608	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39332608C>T	ENST00000397572.2	-	4	1010	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	71					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E71K(1)		large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				TCTTTCATTTCGGCCAGTTCT	0.308																																					p.E71K	Esophageal Squamous(155;912 1855 21572 25911 44247)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	1						.						59.0	57.0	58.0					1																	39332608		2202	4300	6502	39105195	SO:0001583	missense	26292	exon4			AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"""associate of myc-1"""	606535	"""c-myc binding protein"""			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.211G>A	1.37:g.39332608C>T	ENSP00000380702:p.Glu71Lys		39105195	NM_012333	B2R4N0|Q5TA64|Q96HE2	Missense_Mutation	SNP	ENST00000397572.2	37	CCDS431.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581361	0.86748	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.38	5.38	0.77491	.	0.214786	0.38111	U	0.001809	T	0.45617	0.1351	L	0.29908	0.895	0.80722	D	1	D	0.53619	0.961	B	0.42692	0.395	T	0.38585	-0.9654	9	0.33141	T	0.24	-5.4576	19.127	0.93390	0.0:1.0:0.0:0.0	.	71	Q99417	MYCBP_HUMAN	K	71	.	ENSP00000380702:E71K	E	-	1	0	MYCBP	39105195	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.718000	0.54919	2.511000	0.84671	0.655000	0.94253	GAA		0.308	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001209.1	NM_012333	
GJA9	81025	broad.mit.edu	37	1	39340876	39340876	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39340876T>G	ENST00000360786.3	-	1	1147	c.895A>C	c.(895-897)Agt>Cgt	p.S299R	RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Missense_Mutation_p.S299R|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Missense_Mutation_p.S299R|MYCBP_ENST00000397572.2_5'Flank			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	299					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.S299R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GAATTTAAACTAGGGTACACT	0.388																																					p.S299R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A895C	1						.						102.0	101.0	101.0					1																	39340876		2203	4300	6503	39113463	SO:0001583	missense	81025	exon2			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.895A>C	1.37:g.39340876T>G	ENSP00000354020:p.Ser299Arg		39113463	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	CCDS432.1	.	.	.	.	.	.	.	.	.	.	T	9.483	1.098686	0.20552	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.97665	-4.48;-4.4;-4.4	4.72	-0.249	0.13011	.	2.234430	0.02228	U	0.064609	D	0.91570	0.7337	N	0.19112	0.55	0.09310	N	1	B	0.29805	0.257	B	0.23852	0.049	D	0.86347	0.1708	10	0.17369	T	0.5	.	4.3924	0.11346	0.0:0.2896:0.392:0.3184	.	299	P57773	CXA9_HUMAN	R	299	ENSP00000406846:S299R;ENSP00000350415:S299R;ENSP00000354020:S299R	ENSP00000350415:S299R	S	-	1	0	GJA9	39113463	0.186000	0.23225	0.015000	0.15790	0.208000	0.24298	0.514000	0.22786	0.045000	0.15804	-0.291000	0.09656	AGT		0.388	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772	
NDUFS5	4725	broad.mit.edu	37	1	39494580	39494580	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39494580G>T	ENST00000372969.3	+	2	271	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	NDUFS5_ENST00000372967.3_Missense_Mutation_p.D62Y	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	62					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.D62Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			AGAATATGATGATTTCGTAGA	0.398																																					p.D62Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184T	1						.						119.0	112.0	114.0					1																	39494580		2203	4300	6503	39267167	SO:0001583	missense	4725	exon2			AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.184G>T	1.37:g.39494580G>T	ENSP00000362060:p.Asp62Tyr		39267167	NM_004552		Missense_Mutation	SNP	ENST00000372969.3	37	CCDS434.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133494	0.37630	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	D;D	0.83250	-1.7;-1.7	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.70275	2.135	0.80722	D	1	B	0.18968	0.032	B	0.23419	0.046	T	0.80489	-0.1360	10	0.59425	D	0.04	-18.0242	17.3691	0.87371	0.0:0.0:1.0:0.0	.	62	O43920	NDUS5_HUMAN	Y	62	ENSP00000362060:D62Y;ENSP00000362058:D62Y	ENSP00000362058:D62Y	D	+	1	0	NDUFS5	39267167	1.000000	0.71417	0.269000	0.24586	0.252000	0.25951	8.387000	0.90167	2.711000	0.92665	0.655000	0.94253	GAT		0.398	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552	
NDUFS5	4725	broad.mit.edu	37	1	39500070	39500070	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39500070C>T	ENST00000372969.3	+	3	310	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	NDUFS5_ENST00000372967.3_Missense_Mutation_p.R75C	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R75C(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			ACAGATGAGACGTGCAGGTAC	0.453																																					p.R75C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223T	1						.						65.0	62.0	63.0					1																	39500070		2203	4300	6503	39272657	SO:0001583	missense	4725	exon3			AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.223C>T	1.37:g.39500070C>T	ENSP00000362060:p.Arg75Cys		39272657	NM_004552		Missense_Mutation	SNP	ENST00000372969.3	37	CCDS434.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864411	0.32977	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	D;D	0.82893	-1.66;-1.66	5.65	4.72	0.59763	.	0.053612	0.64402	N	0.000001	T	0.80581	0.4650	M	0.69248	2.105	0.54753	D	0.999989	B	0.20671	0.047	B	0.16722	0.016	T	0.77159	-0.2690	10	0.48119	T	0.1	-18.5847	11.509	0.50483	0.3255:0.6745:0.0:0.0	.	75	O43920	NDUS5_HUMAN	C	75	ENSP00000362060:R75C;ENSP00000362058:R75C	ENSP00000362058:R75C	R	+	1	0	NDUFS5	39272657	0.985000	0.35326	0.040000	0.18447	0.016000	0.09150	2.361000	0.44160	1.349000	0.45751	0.655000	0.94253	CGT		0.453	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1	NM_004552	
MACF1	23499	broad.mit.edu	37	1	39749132	39749132	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39749132C>T	ENST00000372915.3	+	8	962	c.875C>T	c.(874-876)tCg>tTg	p.S292L	MACF1_ENST00000545844.1_Missense_Mutation_p.S292L|MACF1_ENST00000539005.1_Missense_Mutation_p.S292L|MACF1_ENST00000317713.7_Missense_Mutation_p.S292L|MACF1_ENST00000361689.2_Missense_Mutation_p.S292L|MACF1_ENST00000564288.1_Missense_Mutation_p.S287L|MACF1_ENST00000567887.1_Missense_Mutation_p.S324L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	292	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S292L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGTGTCTTCGATTTATGAT	0.408																																					p.S292L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C875T	1						.						170.0	151.0	158.0					1																	39749132		2203	4300	6503	39521719	SO:0001583	missense	23499	exon10			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.875C>T	1.37:g.39749132C>T	ENSP00000362006:p.Ser292Leu		39521719	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	33	5.220972	0.95139	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	5.56	5.56	0.83823	.	.	.	.	.	D	0.94231	0.8148	L	0.47078	1.49	0.80722	D	1	B;D	0.64830	0.159;0.994	B;P	0.48873	0.023;0.593	D	0.94724	0.7903	9	0.87932	D	0	.	19.5461	0.95297	0.0:1.0:0.0:0.0	.	292;257	F8W8Q1;Q9UPN3-3	.;.	L	292;292;292;308;292;292;250;441;452	ENSP00000439537:S292L;ENSP00000362006:S292L;ENSP00000354573:S292L;ENSP00000313438:S292L;ENSP00000444364:S292L;ENSP00000435070:S250L;ENSP00000437059:S441L	ENSP00000313438:S292L	S	+	2	0	MACF1	39521719	1.000000	0.71417	0.964000	0.40570	0.977000	0.68977	7.818000	0.86416	2.626000	0.88956	0.585000	0.79938	TCG		0.408	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39759288	39759288	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39759288C>A	ENST00000372915.3	+	17	2253	c.2166C>A	c.(2164-2166)ttC>ttA	p.F722L	MACF1_ENST00000545844.1_Missense_Mutation_p.F722L|MACF1_ENST00000539005.1_Missense_Mutation_p.F722L|MACF1_ENST00000317713.7_Missense_Mutation_p.F722L|MACF1_ENST00000361689.2_Missense_Mutation_p.F722L|MACF1_ENST00000564288.1_Missense_Mutation_p.F717L|MACF1_ENST00000567887.1_Missense_Mutation_p.F754L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	722					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F722L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATTACTTCTCTGTGAGTC	0.468																																					p.F722L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2166A	1						.						122.0	109.0	114.0					1																	39759288		2203	4300	6503	39531875	SO:0001583	missense	23499	exon19			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2166C>A	1.37:g.39759288C>A	ENSP00000362006:p.Phe722Leu		39531875	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.226364	0.58668	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.65916	-0.18;-0.11;-0.18;-0.18;-0.18;-0.18;-0.18	5.63	4.72	0.59763	.	.	.	.	.	T	0.63034	0.2477	L	0.59436	1.845	0.80722	D	1	B;P	0.41313	0.046;0.745	B;P	0.47376	0.037;0.545	T	0.58912	-0.7552	9	0.20519	T	0.43	.	11.0104	0.47659	0.0:0.8578:0.0:0.1422	.	722;687	F8W8Q1;Q9UPN3-3	.;.	L	722;722;722;722;722;680;871;882	ENSP00000439537:F722L;ENSP00000362006:F722L;ENSP00000354573:F722L;ENSP00000313438:F722L;ENSP00000444364:F722L;ENSP00000435070:F680L;ENSP00000437059:F871L	ENSP00000313438:F722L	F	+	3	2	MACF1	39531875	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.798000	0.27014	1.533000	0.49186	-0.140000	0.14226	TTC		0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39788323	39788323	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39788323C>T	ENST00000372915.3	+	31	4175	c.4088C>T	c.(4087-4089)tCg>tTg	p.S1363L	MACF1_ENST00000545844.1_Missense_Mutation_p.S1363L|MACF1_ENST00000539005.1_Missense_Mutation_p.S1363L|MACF1_ENST00000317713.7_Missense_Mutation_p.S1363L|MACF1_ENST00000361689.2_Missense_Mutation_p.S1363L|MACF1_ENST00000564288.1_Missense_Mutation_p.S1358L|MACF1_ENST00000567887.1_Missense_Mutation_p.S1395L|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1363					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S1363L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGGAATCGCAGCAGAAA	0.463																																					p.S1363L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4088T	1						.						118.0	122.0	121.0					1																	39788323		2203	4300	6503	39560910	SO:0001583	missense	23499	exon33			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4088C>T	1.37:g.39788323C>T	ENSP00000362006:p.Ser1363Leu		39560910	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.815257	0.96982	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.63744	-0.03;-0.05;-0.03;-0.06;0.13;1.83;1.83	5.92	5.92	0.95590	.	.	.	.	.	T	0.79516	0.4459	M	0.72894	2.215	0.80722	D	1	D;D;B	0.76494	0.999;0.998;0.254	D;P;B	0.68943	0.961;0.889;0.058	T	0.79776	-0.1661	9	0.72032	D	0.01	.	20.3325	0.98724	0.0:1.0:0.0:0.0	.	1363;1363;1328	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	L	1363;1363;1363;1363;1363;1321;1512	ENSP00000439537:S1363L;ENSP00000362006:S1363L;ENSP00000354573:S1363L;ENSP00000313438:S1363L;ENSP00000444364:S1363L;ENSP00000435070:S1321L;ENSP00000437059:S1512L	ENSP00000313438:S1363L	S	+	2	0	MACF1	39560910	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.760000	0.85248	2.805000	0.96524	0.655000	0.94253	TCG		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39799244	39799244	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39799244G>A	ENST00000372915.3	+	36	7086	c.6999G>A	c.(6997-6999)aaG>aaA	p.K2333K	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.K768K|MACF1_ENST00000564288.1_Silent_p.K2328K|MACF1_ENST00000567887.1_Silent_p.K2365K|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2333					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K768K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTATGGAGAAGCTGAACATGT	0.403																																					p.K768K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2304A	1						.						77.0	78.0	78.0					1																	39799244		2203	4300	6503	39571831	SO:0001819	synonymous_variant	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6999G>A	1.37:g.39799244G>A			39571831	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																					0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39851197	39851197	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39851197C>A	ENST00000372915.3	+	56	14042	c.13955C>A	c.(13954-13956)tCt>tAt	p.S4652Y	MACF1_ENST00000545844.1_Missense_Mutation_p.S2585Y|MACF1_ENST00000539005.1_Missense_Mutation_p.S2564Y|MACF1_ENST00000317713.7_Missense_Mutation_p.S2585Y|MACF1_ENST00000361689.2_Missense_Mutation_p.S2585Y|MACF1_ENST00000289893.4_Missense_Mutation_p.S3087Y|MACF1_ENST00000564288.1_Missense_Mutation_p.S4647Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S4684Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4652					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.S2585Y(1)|p.S3087Y(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGATGTCTCTCTGTCCACC	0.478																																					p.S2585Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7754A	1						.						61.0	53.0	56.0					1																	39851197		2203	4300	6503	39623784	SO:0001583	missense	23499	exon53			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.13955C>A	1.37:g.39851197C>A	ENSP00000362006:p.Ser4652Tyr		39623784	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	15.84	2.951157	0.53186	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.66815	-0.2;-0.16;-0.2;-0.23;-0.02;0.94	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000010	T	0.79919	0.4529	L	0.51422	1.61	0.80722	D	1	D;P;D	0.76494	0.999;0.886;0.989	D;D;D	0.81914	0.995;0.947;0.923	T	0.78234	-0.2283	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	4652;2585;2529	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	Y	2585;4652;2585;2585;2564;3087	ENSP00000439537:S2585Y;ENSP00000362006:S4652Y;ENSP00000354573:S2585Y;ENSP00000313438:S2585Y;ENSP00000444364:S2564Y;ENSP00000289893:S3087Y	ENSP00000289893:S3087Y	S	+	2	0	MACF1	39623784	1.000000	0.71417	0.995000	0.50966	0.820000	0.46376	5.452000	0.66638	2.941000	0.99782	0.655000	0.94253	TCT		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	broad.mit.edu	37	1	39853455	39853455	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39853455C>T	ENST00000372915.3	+	57	15043	c.14956C>T	c.(14956-14958)Cgg>Tgg	p.R4986W	MACF1_ENST00000545844.1_Missense_Mutation_p.R2919W|MACF1_ENST00000539005.1_Missense_Mutation_p.R2898W|MACF1_ENST00000317713.7_Missense_Mutation_p.R2919W|MACF1_ENST00000361689.2_Missense_Mutation_p.R2919W|MACF1_ENST00000289893.4_Missense_Mutation_p.R3421W|MACF1_ENST00000564288.1_Missense_Mutation_p.R4981W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5018W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4986					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R2919W(1)|p.R3421W(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGGAATCCGGGATGAGAA	0.493																																					p.R2919W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8755T	1						.						62.0	64.0	63.0					1																	39853455		2203	4300	6503	39626042	SO:0001583	missense	23499	exon54			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14956C>T	1.37:g.39853455C>T	ENSP00000362006:p.Arg4986Trp		39626042	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.908862|2.908862	0.52439|0.52439	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67;0.67;0.67	6.17|6.17	5.26|5.26	0.73747|0.73747	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79784	.|0.993;0.982;0.982	T|T	0.65541|0.65541	-0.6143|-0.6143	5|10	.|0.87932	.|D	.|0	.|.	10.3681|10.3681	0.44038|0.44038	0.1358:0.7979:0.0:0.0663|0.1358:0.7979:0.0:0.0663	.|.	.|4986;2919;2863	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	L|W	2031|2919;4986;2919;2919;2898;3421	.|ENSP00000439537:R2919W;ENSP00000362006:R4986W;ENSP00000354573:R2919W;ENSP00000313438:R2919W;ENSP00000444364:R2898W;ENSP00000289893:R3421W	.|ENSP00000289893:R3421W	P|R	+|+	2|1	0|2	MACF1|MACF1	39626042|39626042	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.490000|2.490000	0.45294|0.45294	1.615000|1.615000	0.50252|0.50252	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KIAA0754	643314	broad.mit.edu	37	1	39877258	39877258	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39877258G>A	ENST00000530275.1	+	1	1108	c.913G>A	c.(913-915)Gga>Aga	p.G305R	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	305								p.G305R(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGGTTAGAGGGACTTGTTTC	0.468											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G441R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321A	1						.						168.0	163.0	165.0					1																	39877258		1951	4152	6103	39649845	SO:0001583	missense	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.913G>A	1.37:g.39877258G>A	ENSP00000431179:p.Gly305Arg	889	39649845	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	G	9.195	1.027048	0.19512	.	.	ENSG00000255103	ENST00000530275	D	0.85629	-2.01	4.41	-2.41	0.06562	.	.	.	.	.	T	0.71508	0.3348	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.19946	0.027	T	0.59952	-0.7357	9	0.87932	D	0	.	6.0916	0.19997	0.3796:0.2264:0.394:0.0	.	305	O94854	K0754_HUMAN	R	305	ENSP00000431179:G305R	ENSP00000431179:G305R	G	+	1	0	RP4-562N20.1	39649845	0.077000	0.21312	0.000000	0.03702	0.009000	0.06853	0.451000	0.21779	-0.328000	0.08539	-0.136000	0.14681	GGA		0.468	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
KIAA0754	643314	broad.mit.edu	37	1	39877571	39877571	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39877571C>A	ENST00000530275.1	+	1	1421	c.1226C>A	c.(1225-1227)tCt>tAt	p.S409Y	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	409								p.S409Y(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCCTGGATTCTTCTCAGGTG	0.413																																					p.S545Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1634A	1						.						98.0	94.0	95.0					1																	39877571		1879	4121	6000	39650158	SO:0001583	missense	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1226C>A	1.37:g.39877571C>A	ENSP00000431179:p.Ser409Tyr		39650158	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	16.61	3.171192	0.57584	.	.	ENSG00000255103	ENST00000530275	D	0.86865	-2.18	5.2	2.14	0.27477	.	.	.	.	.	D	0.82962	0.5151	N	0.24115	0.695	0.20873	N	0.99984	D	0.55605	0.972	P	0.55222	0.771	T	0.71984	-0.4427	9	0.87932	D	0	.	3.635	0.08146	0.1245:0.4827:0.2926:0.1002	.	409	O94854	K0754_HUMAN	Y	409	ENSP00000431179:S409Y	ENSP00000431179:S409Y	S	+	2	0	RP4-562N20.1	39650158	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.197000	0.32211	0.558000	0.29135	0.655000	0.94253	TCT		0.413	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
KIAA0754	643314	broad.mit.edu	37	1	39880083	39880083	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39880083G>T	ENST00000530275.1	+	1	3933	c.3738G>T	c.(3736-3738)gaG>gaT	p.E1246D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1246								p.E1246D(1)		central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATAAAAGAGGTGACCAGCA	0.463																																					p.E1382D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4146T	1						.						60.0	62.0	61.0					1																	39880083		2004	4192	6196	39652670	SO:0001583	missense	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3738G>T	1.37:g.39880083G>T	ENSP00000431179:p.Glu1246Asp		39652670	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	G	13.82	2.351930	0.41700	.	.	ENSG00000127603;ENSG00000255103	ENST00000482035;ENST00000530275	T;T	0.36699	1.36;1.24	4.8	2.92	0.33932	.	.	.	.	.	T	0.36580	0.0972	N	0.24115	0.695	0.18873	N	0.999983	D	0.60160	0.987	P	0.56916	0.809	T	0.12426	-1.0548	9	0.87932	D	0	.	7.6027	0.28085	0.1981:0.0:0.8019:0.0	.	1246	O94854	K0754_HUMAN	D	4;1246	ENSP00000433104:E4D;ENSP00000431179:E1246D	ENSP00000431179:E1246D	E	+	3	2	MACF1;RP4-562N20.1	39652670	0.286000	0.24305	1.000000	0.80357	0.490000	0.33462	0.230000	0.17852	0.571000	0.29365	0.643000	0.83706	GAG		0.463	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
MACF1	23499	broad.mit.edu	37	1	39893237	39893237	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:39893237C>A	ENST00000372915.3	+	61	16529	c.16442C>A	c.(16441-16443)cCt>cAt	p.P5481H	MACF1_ENST00000545844.1_Missense_Mutation_p.P3414H|MACF1_ENST00000539005.1_Missense_Mutation_p.P3393H|MACF1_ENST00000317713.7_Missense_Mutation_p.P3414H|MACF1_ENST00000361689.2_Missense_Mutation_p.P3414H|MACF1_ENST00000289893.4_Missense_Mutation_p.P3916H|MACF1_ENST00000564288.1_Missense_Mutation_p.P5476H|MACF1_ENST00000567887.1_Missense_Mutation_p.P5513H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5481					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P3414H(1)|p.P3916H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTCAGAACCTGTTGGCACT	0.433																																					p.P3414H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10241A	1						.						108.0	112.0	111.0					1																	39893237		2203	4300	6503	39665824	SO:0001583	missense	23499	exon58			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16442C>A	1.37:g.39893237C>A	ENSP00000362006:p.Pro5481His		39665824	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.682363	0.88542	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	T;T;T;T;T;T;T	0.50813	1.21;1.21;1.21;1.21;1.21;1.21;0.73	5.7	5.7	0.88788	.	0.000000	0.56097	D	0.000021	T	0.71913	0.3396	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.995	T	0.74044	-0.3791	10	0.72032	D	0.01	.	19.8305	0.96632	0.0:1.0:0.0:0.0	.	5481;3414;3358	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	H	3414;5481;3414;3414;3393;3916;230	ENSP00000439537:P3414H;ENSP00000362006:P5481H;ENSP00000354573:P3414H;ENSP00000313438:P3414H;ENSP00000444364:P3393H;ENSP00000289893:P3916H;ENSP00000433104:P230H	ENSP00000289893:P3916H	P	+	2	0	MACF1	39665824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.557000	0.71058	CCT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
HEYL	26508	broad.mit.edu	37	1	40098379	40098379	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40098379G>A	ENST00000372852.3	-	2	408	c.89C>T	c.(88-90)gCc>gTc	p.A30V	HEYL_ENST00000535435.1_Missense_Mutation_p.A2V|RP1-144F13.3_ENST00000424418.1_RNA	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	30					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A30V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCGGCCTGGCCATCTGGCT	0.607																																					p.A30V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89T	1						.						132.0	141.0	138.0					1																	40098379		2203	4300	6503	39870966	SO:0001583	missense	26508	exon2			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.89C>T	1.37:g.40098379G>A	ENSP00000361943:p.Ala30Val		39870966	NM_014571	Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	CCDS439.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717827	0.48622	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.60424	0.32;0.19	4.88	4.88	0.63580	.	0.412070	0.24745	N	0.035955	T	0.46927	0.1418	L	0.36672	1.1	0.80722	D	1	B	0.25563	0.129	B	0.23419	0.046	T	0.34775	-0.9815	10	0.16896	T	0.51	-32.3265	15.6176	0.76780	0.0:0.0:1.0:0.0	.	30	Q9NQ87	HEYL_HUMAN	V	30;2	ENSP00000361943:A30V;ENSP00000439071:A2V	ENSP00000361943:A30V	A	-	2	0	HEYL	39870966	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.657000	0.67996	2.632000	0.89209	0.591000	0.81541	GCC		0.607	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571	
TRIT1	54802	broad.mit.edu	37	1	40318514	40318514	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40318514C>T	ENST00000316891.5	-	4	463	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.R70Q|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.R150Q	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	150					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.R150Q(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCCACTTTTCGGTCAATCAC	0.463																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	1						.						257.0	239.0	245.0					1																	40318514		2203	4300	6503	40091101	SO:0001583	missense	54802	exon4			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.449G>A	1.37:g.40318514C>T	ENSP00000321810:p.Arg150Gln		40091101	NM_017646	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361262	0.61403	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.44881	0.91;0.93	5.07	3.15	0.36227	.	0.093792	0.64402	D	0.000001	T	0.46560	0.1399	L	0.39467	1.215	0.80722	D	1	P;P;D	0.76494	0.467;0.476;0.999	B;B;P	0.62740	0.19;0.119;0.906	T	0.23691	-1.0181	10	0.17369	T	0.5	-3.4015	10.1895	0.43017	0.1356:0.7925:0.0:0.0718	.	150;150;70	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	Q	150;70;64;150;150	ENSP00000321810:R150Q;ENSP00000361905:R150Q	ENSP00000046894:R150Q	R	-	2	0	TRIT1	40091101	0.990000	0.36364	0.998000	0.56505	0.808000	0.45660	0.951000	0.29135	0.606000	0.29965	0.467000	0.42956	CGA		0.463	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646	
CAP1	10487	broad.mit.edu	37	1	40531973	40531973	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40531973G>A	ENST00000372797.3	+	7	1172	c.611G>A	c.(610-612)gGa>gAa	p.G204E	CAP1_ENST00000372792.2_Missense_Mutation_p.G204E|CAP1_ENST00000372798.1_Missense_Mutation_p.G203E|CAP1_ENST00000340450.3_Missense_Mutation_p.G203E|CAP1_ENST00000372802.1_Missense_Mutation_p.G203E|CAP1_ENST00000372805.3_Missense_Mutation_p.G204E	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G204E(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATACCACCGGACTGGCCTGG	0.493																																					p.G204E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	1						.						77.0	73.0	74.0					1																	40531973		1922	4112	6034	40304560	SO:0001583	missense	10487	exon7			L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.611G>A	1.37:g.40531973G>A	ENSP00000361883:p.Gly204Glu		40304560	NM_006367	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585911	0.86748	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000414893;ENST00000414281;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000372794;ENST00000427843	T;T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	4.12	4.12	0.48240	Adenylate cyclase-associated CAP, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79546	-0.1759	10	0.87932	D	0	-20.3066	15.5427	0.76066	0.0:0.0:1.0:0.0	.	151;204	E7ENY9;Q01518	.;CAP1_HUMAN	E	204;203;55;204;204;181;203;203;204;203;55;204	ENSP00000361883:G204E;ENSP00000361888:G203E;ENSP00000398877:G55E;ENSP00000408561:G204E;ENSP00000361878:G204E;ENSP00000361884:G203E;ENSP00000344832:G203E;ENSP00000361891:G204E;ENSP00000412859:G203E;ENSP00000413656:G204E	ENSP00000344832:G203E	G	+	2	0	CAP1	40304560	1.000000	0.71417	0.984000	0.44739	0.963000	0.63663	9.657000	0.98554	2.145000	0.66743	0.484000	0.47621	GGA		0.493	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367	
RLF	6018	broad.mit.edu	37	1	40702536	40702536	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40702536G>A	ENST00000372771.4	+	8	2189	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	721					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R721Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACTGTCGACGACATTTTATG	0.388																																					p.R721Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2162A	1						.						122.0	123.0	122.0					1																	40702536		2203	4300	6503	40475123	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2162G>A	1.37:g.40702536G>A	ENSP00000361857:p.Arg721Gln		40475123	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712684	0.68730	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.37915	1.17	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.053610	0.64402	D	0.000001	T	0.58779	0.2146	L	0.50333	1.59	0.47037	D	0.999298	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.974	T	0.55134	-0.8188	10	0.72032	D	0.01	-8.4301	20.8794	0.99867	0.0:0.0:1.0:0.0	.	414;721	F5H2M5;Q13129	.;RLF_HUMAN	Q	721;414	ENSP00000361857:R721Q	ENSP00000361857:R721Q	R	+	2	0	RLF	40475123	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	7.544000	0.82117	2.941000	0.99782	0.655000	0.94253	CGA		0.388	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	broad.mit.edu	37	1	40702807	40702807	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40702807C>A	ENST00000372771.4	+	8	2460	c.2433C>A	c.(2431-2433)ttC>ttA	p.F811L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	811					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F811L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTAAAAAGTTCTATTACTCCA	0.368																																					p.F811L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2433A	1						.						76.0	73.0	74.0					1																	40702807		2203	4300	6503	40475394	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2433C>A	1.37:g.40702807C>A	ENSP00000361857:p.Phe811Leu		40475394	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693453	0.48202	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	6.13	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.043821	0.85682	D	0.000000	T	0.23886	0.0578	L	0.52266	1.64	0.53005	D	0.99996	P;D	0.67145	0.705;0.996	P;P	0.57620	0.692;0.824	T	0.00041	-1.2231	10	0.41790	T	0.15	-11.1299	11.1476	0.48440	0.0:0.8497:0.0:0.1503	.	504;811	F5H2M5;Q13129	.;RLF_HUMAN	L	811;504	ENSP00000361857:F811L	ENSP00000361857:F811L	F	+	3	2	RLF	40475394	0.725000	0.28048	1.000000	0.80357	0.995000	0.86356	-0.105000	0.10907	2.937000	0.99478	0.650000	0.86243	TTC		0.368	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	broad.mit.edu	37	1	40705582	40705582	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40705582A>C	ENST00000372771.4	+	8	5235	c.5208A>C	c.(5206-5208)gaA>gaC	p.E1736D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1736					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1736D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGGGCAAGAAAACACTGTAA	0.408																																					p.E1736D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5208C	1						.						48.0	49.0	49.0					1																	40705582		2200	4290	6490	40478169	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5208A>C	1.37:g.40705582A>C	ENSP00000361857:p.Glu1736Asp		40478169	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	7.640	0.680700	0.14907	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14266	2.52	5.87	4.68	0.58851	.	0.276672	0.39407	N	0.001376	T	0.08313	0.0207	L	0.29908	0.895	0.28757	N	0.901098	B;B	0.14805	0.011;0.006	B;B	0.12156	0.007;0.003	T	0.13548	-1.0505	10	0.27082	T	0.32	-21.2595	3.3689	0.07213	0.6426:0.1428:0.0776:0.137	.	1429;1736	F5H2M5;Q13129	.;RLF_HUMAN	D	1736;1429	ENSP00000361857:E1736D	ENSP00000361857:E1736D	E	+	3	2	RLF	40478169	0.998000	0.40836	1.000000	0.80357	0.951000	0.60555	0.509000	0.22707	2.371000	0.80710	0.533000	0.62120	GAA		0.408	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	broad.mit.edu	37	1	40705883	40705883	+	Missense_Mutation	SNP	C	C	A	rs201181495		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40705883C>A	ENST00000372771.4	+	8	5536	c.5509C>A	c.(5509-5511)Cat>Aat	p.H1837N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1837					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H1837N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTCTACAATTCATGAGAACCT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		20483	0.001		0.0	False		,,,				2504	0.0				p.H1837N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5509A	1						.						134.0	131.0	132.0					1																	40705883		2203	4300	6503	40478470	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5509C>A	1.37:g.40705883C>A	ENSP00000361857:p.His1837Asn		40478470	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	6.976	0.550093	0.13374	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13901	2.55	5.35	3.42	0.39159	.	0.342769	0.30329	N	0.009861	T	0.10121	0.0248	L	0.29908	0.895	0.27781	N	0.943163	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15636	-1.0430	10	0.38643	T	0.18	-3.1162	10.0787	0.42377	0.1371:0.7895:0.0:0.0734	.	1530;1837	F5H2M5;Q13129	.;RLF_HUMAN	N	1837;1530	ENSP00000361857:H1837N	ENSP00000361857:H1837N	H	+	1	0	RLF	40478470	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	1.223000	0.32527	0.897000	0.36392	0.655000	0.94253	CAT		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
SMAP2	64744	broad.mit.edu	37	1	40878691	40878691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40878691G>T	ENST00000539317.1	+	5	359	c.166G>T	c.(166-168)Gaa>Taa	p.E56*		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	136	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.E136*(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ATTATAGAAAGAAAAAGATGA	0.378																																					p.E131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G391T	1						.						56.0	57.0	57.0					1																	40878691		2203	4300	6503	40651278	SO:0001587	stop_gained	64744	exon5			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.166G>T	1.37:g.40878691G>T	ENSP00000442835:p.Glu56*		40651278	NM_001198979	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Nonsense_Mutation	SNP	ENST00000539317.1	37	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	G	41	8.554656	0.98861	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	.	.	.	5.5	5.5	0.81552	.	0.244121	0.48286	D	0.000195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-20.602	17.2513	0.87043	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;106;56	.	ENSP00000361793:E106X	E	+	1	0	SMAP2	40651278	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.694000	0.74587	2.732000	0.93576	0.650000	0.86243	GAA		0.378	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733	
ZFP69B	65243	broad.mit.edu	37	1	40929056	40929056	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40929056G>T	ENST00000411995.2	+	6	1775	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R365I	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	467					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.R365I(1)									ATCCATCAGAGAGTCCATACT	0.393																																					p.R467I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1400T	1						.						92.0	92.0	92.0					1																	40929056		2203	4300	6503	40701643	SO:0001583	missense	65243	exon5			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1400G>T	1.37:g.40929056G>T	ENSP00000399664:p.Arg467Ile		40701643	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	17.40	3.379401	0.61845	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.24908	1.83;1.83	3.14	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.61036	1.89	0.47374	D	0.999408	B	0.12630	0.006	B	0.08055	0.003	T	0.07252	-1.0782	9	0.59425	D	0.04	.	5.0782	0.14642	0.1249:0.4273:0.4478:0.0	.	467	Q9UJL9	ZN643_HUMAN	I	398;467;365	ENSP00000399664:R467I;ENSP00000354547:R365I	ENSP00000354547:R365I	R	+	2	0	ZNF643	40701643	0.000000	0.05858	0.987000	0.45799	0.998000	0.95712	0.819000	0.27308	0.277000	0.22141	0.655000	0.94253	AGA		0.393	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
ZFP69	339559	broad.mit.edu	37	1	40947510	40947510	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:40947510C>T	ENST00000372706.1	+	3	1209	c.203C>T	c.(202-204)cCg>cTg	p.P68L	ZFP69_ENST00000372705.3_Missense_Mutation_p.P68L			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	68					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.P68L(1)									CCTGGACTCCCGACAGCAGAA	0.483																																					p.P68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	1						.						92.0	87.0	89.0					1																	40947510		2203	4300	6503	40720097	SO:0001583	missense	339559	exon3			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.203C>T	1.37:g.40947510C>T	ENSP00000361791:p.Pro68Leu		40720097	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.059672	0.00386	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04275	3.66;3.66	3.55	-7.09	0.01553	.	1.510010	0.04554	N	0.390438	T	0.01800	0.0057	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	10	0.05525	T	0.97	6.4787	5.1678	0.15094	0.1072:0.165:0.1062:0.6216	.	68	Q49AA0	ZN642_HUMAN	L	68	ENSP00000361791:P68L;ENSP00000361790:P68L	ENSP00000361790:P68L	P	+	2	0	ZNF642	40720097	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.865000	0.01649	-2.578000	0.00464	-1.002000	0.02502	CCG		0.483	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
KCNQ4	9132	broad.mit.edu	37	1	41304024	41304024	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:41304024C>A	ENST00000347132.5	+	14	1999	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.F585L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	639	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.F639L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TGTTGGGCTTCTATTCGCGCT	0.701																																					p.F639L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1917A	1						.						87.0	89.0	88.0					1																	41304024		2203	4299	6502	41076611	SO:0001583	missense	9132	exon14			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1917C>A	1.37:g.41304024C>A	ENSP00000262916:p.Phe639Leu		41076611	NM_004700	O96025	Missense_Mutation	SNP	ENST00000347132.5	37	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.23|12.23	1.875049|1.875049	0.33162|0.33162	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000347132;ENST00000509682|ENST00000443478	D;D|.	0.99563|.	-6.17;-6.17|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Potassium channel, voltage dependent, KCNQ, C-terminal (1);|.	0.138160|.	0.48286|.	D|.	0.000185|.	T|T	0.31389|0.31389	0.0795|0.0795	N|N	0.02315|0.02315	-0.6|-0.6	0.40907|0.40907	D|D	0.984206|0.984206	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.12156|.	0.001;0.007|.	T|T	0.30060|0.30060	-0.9991|-0.9991	10|5	0.31617|.	T|.	0.26|.	-23.3328|-23.3328	15.3194|15.3194	0.74109|0.74109	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	585;639|.	P56696-2;P56696|.	.;KCNQ4_HUMAN|.	L|I	639;585|500	ENSP00000262916:F639L;ENSP00000423756:F585L|.	ENSP00000262916:F639L|.	F|L	+|+	3|1	2|2	KCNQ4|KCNQ4	41076611|41076611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.624000|2.624000	0.46444|0.46444	2.218000|2.218000	0.71995|0.71995	0.313000|0.313000	0.20887|0.20887	TTC|CTA		0.701	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
SCMH1	22955	broad.mit.edu	37	1	41540934	41540934	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:41540934G>T	ENST00000326197.7	-	8	1204	c.905C>A	c.(904-906)cCt>cAt	p.P302H	SCMH1_ENST00000402904.2_Missense_Mutation_p.P302H|SCMH1_ENST00000456518.2_Missense_Mutation_p.P144H|SCMH1_ENST00000397171.2_Missense_Mutation_p.P241H|SCMH1_ENST00000361191.5_Missense_Mutation_p.P241H|SCMH1_ENST00000372595.1_Missense_Mutation_p.P241H|SCMH1_ENST00000337495.5_Missense_Mutation_p.P312H|SCMH1_ENST00000361705.3_Missense_Mutation_p.P255H|SCMH1_ENST00000372596.1_Missense_Mutation_p.P241H|SCMH1_ENST00000372597.1_Missense_Mutation_p.P255H|SCMH1_ENST00000397174.2_Missense_Mutation_p.P282H					sex comb on midleg homolog 1 (Drosophila)									p.P255H(1)|p.P312H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GAATTTCAAAGGTTCAGCTGT	0.517																																					p.P241H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C722A	1						.						142.0	140.0	141.0					1																	41540934		2203	4300	6503	41313521	SO:0001583	missense	22955	exon10			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.905C>A	1.37:g.41540934G>T	ENSP00000318094:p.Pro302His		41313521	NM_001172218		Missense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922353	0.73213	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.23950	2.19;1.88;2.18;2.21;2.2;2.2;2.19;2.2;2.2;2.18;2.18	5.29	5.29	0.74685	.	0.310219	0.32244	N	0.006370	T	0.50786	0.1636	M	0.65498	2.005	0.49798	D	0.999828	B;B;D;D	0.89917	0.003;0.005;1.0;1.0	B;B;D;D	0.91635	0.003;0.007;0.999;0.981	T	0.45249	-0.9274	10	0.48119	T	0.1	.	17.8562	0.88764	0.0:0.0:1.0:0.0	.	144;312;255;302	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	H	255;144;302;282;241;241;255;241;312;241;302	ENSP00000354996:P255H;ENSP00000403974:P144H;ENSP00000386079:P302H;ENSP00000380359:P282H;ENSP00000380356:P241H;ENSP00000354656:P241H;ENSP00000361678:P255H;ENSP00000361677:P241H;ENSP00000337352:P312H;ENSP00000361676:P241H;ENSP00000318094:P302H	ENSP00000318094:P302H	P	-	2	0	SCMH1	41313521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.058000	0.76676	2.640000	0.89533	0.609000	0.83330	CCT		0.517	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		
SCMH1	22955	broad.mit.edu	37	1	41579028	41579028	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:41579028G>A	ENST00000326197.7	-	7	941	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SCMH1_ENST00000361191.5_Silent_p.F153F|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000402904.2_Silent_p.F214F|SCMH1_ENST00000372596.1_Silent_p.F153F|SCMH1_ENST00000372597.1_Silent_p.F167F|SCMH1_ENST00000361705.3_Silent_p.F167F|SCMH1_ENST00000372595.1_Silent_p.F153F|SCMH1_ENST00000337495.5_Silent_p.F224F|SCMH1_ENST00000397171.2_Silent_p.F153F|SCMH1_ENST00000397174.2_Silent_p.F194F					sex comb on midleg homolog 1 (Drosophila)									p.F167F(1)|p.F224F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTCGGGAGTCGAAGCGGCACC	0.562																																					p.F153F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C459T	1						.						111.0	108.0	109.0					1																	41579028		2203	4300	6503	41351615	SO:0001819	synonymous_variant	22955	exon9			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.642C>T	1.37:g.41579028G>A			41351615	NM_001172218		Silent	SNP	ENST00000326197.7	37	CCDS30688.1																																																																																				0.562	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		
HIVEP3	59269	broad.mit.edu	37	1	41990505	41990505	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:41990505G>A	ENST00000372583.1	-	6	6169	c.5284C>T	c.(5284-5286)Cgc>Tgc	p.R1762C	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R1762C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762C|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1762	ZAS2.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1762C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCTTGCAGCGAATTCCACAC	0.493																																					p.R1762C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5284T	1						.						177.0	140.0	153.0					1																	41990505		2203	4300	6503	41763092	SO:0001583	missense	59269	exon6			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5284C>T	1.37:g.41990505G>A	ENSP00000361664:p.Arg1762Cys		41763092	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025928	0.93518	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000105	T	0.59555	0.2202	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65602	-0.6128	10	0.87932	D	0	-18.96	17.7486	0.88428	0.0:0.0:1.0:0.0	.	1762;1762	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	1762	ENSP00000361665:R1762C;ENSP00000361664:R1762C;ENSP00000247584:R1762C;ENSP00000410828:R1762C	ENSP00000247584:R1762C	R	-	1	0	HIVEP3	41763092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.520000	0.84964	0.561000	0.74099	CGC		0.493	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
HIVEP3	59269	broad.mit.edu	37	1	42041223	42041223	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:42041223G>A	ENST00000372583.1	-	5	6084	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F	HIVEP3_ENST00000372584.1_Silent_p.F1733F|HIVEP3_ENST00000429157.2_Silent_p.F1733F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.F1733F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1733					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F1733F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCCTCCTTCGAAGATTTTGA	0.552																																					p.F1733F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5199T	1						.						179.0	190.0	186.0					1																	42041223		2203	4300	6503	41813810	SO:0001819	synonymous_variant	59269	exon5			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5199C>T	1.37:g.42041223G>A			41813810	NM_024503	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	CCDS463.1																																																																																				0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503	
FOXJ3	22887	broad.mit.edu	37	1	42693634	42693634	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:42693634A>G	ENST00000372572.1	-	7	759	c.448T>C	c.(448-450)Tcc>Ccc	p.S150P	FOXJ3_ENST00000372573.1_Missense_Mutation_p.S150P|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S150P|FOXJ3_ENST00000361776.1_Missense_Mutation_p.S150P|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S150P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	150					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S150P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCCAGTAGGACCCCTAGAGG	0.388																																					p.S150P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T448C	1						.																																			42466221	SO:0001583	missense	22887	exon7			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.448T>C	1.37:g.42693634A>G	ENSP00000361653:p.Ser150Pro		42466221	NM_001198851	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.264898	0.80358	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.68	5.68	0.88126	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	D	0.98853	1.0759	10	0.87932	D	0	.	13.8795	0.63674	1.0:0.0:0.0:0.0	.	150;150	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	P	150	ENSP00000361654:S150P;ENSP00000361653:S150P;ENSP00000354620:S150P;ENSP00000354449:S150P;ENSP00000439044:S150P;ENSP00000393408:S150P	ENSP00000354620:S150P	S	-	1	0	FOXJ3	42466221	1.000000	0.71417	0.972000	0.41901	0.688000	0.40055	7.360000	0.79487	2.153000	0.67306	0.533000	0.62120	TCC		0.388	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947	
ZMYND12	84217	broad.mit.edu	37	1	42902137	42902137	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:42902137G>A	ENST00000372565.3	-	5	941	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ZMYND12_ENST00000475426.1_5'Flank|ZMYND12_ENST00000433602.2_Silent_p.F114F	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	224						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.F224F(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TAAGGTCATAGAATATATTAG	0.448																																					p.F224F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	1						.						133.0	126.0	128.0					1																	42902137		2203	4300	6503	42674724	SO:0001819	synonymous_variant	84217	exon5			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.672C>T	1.37:g.42902137G>A			42674724	NM_032257	Q5VUS6|Q8TC87|Q96M51	Silent	SNP	ENST00000372565.3	37	CCDS467.1																																																																																				0.448	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	
PPCS	79717	broad.mit.edu	37	1	42925391	42925391	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:42925391C>T	ENST00000372561.3	+	3	737	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PPCS_ENST00000372562.1_Missense_Mutation_p.R71W|PPCS_ENST00000455780.1_Missense_Mutation_p.R71W|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	244					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)	p.R244W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TAATCGAGCTCGGAAGGCTTT	0.418																																					p.R71W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	1						.						106.0	101.0	102.0					1																	42925391		1855	4098	5953	42697978	SO:0001583	missense	79717	exon3			AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.730C>T	1.37:g.42925391C>T	ENSP00000361642:p.Arg244Trp		42697978	NM_001077447	Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112146	0.94339	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.01	6.01	0.97437	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.107321	0.64402	D	0.000003	D	0.87313	0.6146	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89663	0.3878	9	0.66056	D	0.02	-7.347	18.015	0.89236	0.0:1.0:0.0:0.0	.	244	Q9HAB8	PPCS_HUMAN	W	71;71;244	.	ENSP00000361642:R244W	R	+	1	2	PPCS	42697978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.404000	0.66344	2.861000	0.98227	0.650000	0.86243	CGG		0.418	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664	
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43032078C>T	ENST00000340612.4	+	5	787	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263						extracellular vesicular exosome (GO:0070062)		p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408																																					p.R263X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C787T	1						.						94.0	90.0	91.0					1																	43032078		2203	4300	6503	42804665	SO:0001587	stop_gained	728621	exon6			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.787C>T	1.37:g.43032078C>T	ENSP00000340378:p.Arg263*		42804665	NM_001080850	Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986306	0.93044	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.83	4.92	0.64577	.	0.252263	0.39759	N	0.001269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1432	0.65334	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;52;263;263;52	.	ENSP00000340378:R263X	R	+	1	2	CCDC30	42804665	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	1.473000	0.35387	1.455000	0.47813	0.655000	0.94253	CGA		0.408	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
CCDC30	728621	broad.mit.edu	37	1	43076721	43076721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43076721G>T	ENST00000340612.4	+	9	1456	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	CCDC30_ENST00000342022.4_Nonsense_Mutation_p.E486*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.E275*|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.E486*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.E275*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	486						extracellular vesicular exosome (GO:0070062)		p.E486*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCTACGTGAAGAATATTTGCG	0.363																																					p.E486X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1456T	1						.						124.0	115.0	118.0					1																	43076721		2203	4300	6503	42849308	SO:0001587	stop_gained	728621	exon10			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1456G>T	1.37:g.43076721G>T	ENSP00000340378:p.Glu486*		42849308	NM_001080850	Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149377	0.37923	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.68	2.82	0.32997	.	0.306075	0.37906	N	0.001900	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.1413	0.25558	0.2684:0.0:0.7316:0.0	.	.	.	.	X	486;275;486;486;275	.	ENSP00000340378:E486X	E	+	1	0	CCDC30	42849308	0.993000	0.37304	0.060000	0.19600	0.077000	0.17291	0.839000	0.27586	0.757000	0.33036	0.563000	0.77884	GAA		0.363	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
CCDC30	728621	broad.mit.edu	37	1	43111809	43111809	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43111809C>A	ENST00000340612.4	+	13	1894	c.1894C>A	c.(1894-1896)Ctt>Att	p.L632I	CCDC30_ENST00000342022.4_Missense_Mutation_p.L632I|CCDC30_ENST00000390640.4_Missense_Mutation_p.L421I|CCDC30_ENST00000428554.2_Missense_Mutation_p.L632I|CCDC30_ENST00000507855.1_Missense_Mutation_p.L421I			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	632						extracellular vesicular exosome (GO:0070062)		p.L632I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AACTTAGAATCTTAAGGAGTt	0.358																																					p.L632I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1894A	1						.						29.0	30.0	30.0					1																	43111809		2203	4299	6502	42884396	SO:0001583	missense	728621	exon14			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1894C>A	1.37:g.43111809C>A	ENSP00000340378:p.Leu632Ile		42884396	NM_001080850	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	6.223	0.409331	0.11812	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.54279	0.58;0.61;0.58;0.58;0.61	1.63	-0.522	0.11928	.	2.530400	0.03167	U	0.170167	T	0.36026	0.0952	L	0.36672	1.1	0.19775	N	0.999954	B;B	0.31730	0.337;0.201	B;B	0.24974	0.057;0.019	T	0.06180	-1.0841	10	0.18276	T	0.48	.	2.8195	0.05467	0.0:0.4932:0.3025:0.2043	.	632;421	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	I	632;421;632;632;421	ENSP00000397035:L632I;ENSP00000426711:L421I;ENSP00000340378:L632I;ENSP00000339280:L632I;ENSP00000375051:L421I	ENSP00000340378:L632I	L	+	1	0	CCDC30	42884396	0.986000	0.35501	0.748000	0.31131	0.233000	0.25261	0.085000	0.14912	-0.130000	0.11599	-0.373000	0.07131	CTT		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
CCDC30	728621	broad.mit.edu	37	1	43111874	43111874	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43111874G>T	ENST00000340612.4	+	13	1959	c.1959G>T	c.(1957-1959)aaG>aaT	p.K653N	CCDC30_ENST00000342022.4_Missense_Mutation_p.K653N|CCDC30_ENST00000390640.4_Missense_Mutation_p.K442N|CCDC30_ENST00000428554.2_Missense_Mutation_p.K653N|CCDC30_ENST00000507855.1_Missense_Mutation_p.K442N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	653						extracellular vesicular exosome (GO:0070062)		p.K653N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ctccaacaaagaaacagaaag	0.418																																					p.K653N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1959T	1						.						43.0	39.0	40.0					1																	43111874		2184	4286	6470	42884461	SO:0001583	missense	728621	exon14			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1959G>T	1.37:g.43111874G>T	ENSP00000340378:p.Lys653Asn		42884461	NM_001080850	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.045885	0.00398	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	0.427	-0.854	0.10705	.	.	.	.	.	T	0.17066	0.0410	N	0.22421	0.69	0.09310	N	1	P;B	0.42078	0.77;0.0	B;B	0.30251	0.113;0.0	T	0.20140	-1.0284	8	0.12766	T	0.61	.	.	.	.	.	653;442	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	N	653;442;653;653;442	ENSP00000397035:K653N;ENSP00000426711:K442N;ENSP00000340378:K653N;ENSP00000339280:K653N;ENSP00000375051:K442N	ENSP00000340378:K653N	K	+	3	2	CCDC30	42884461	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.316000	0.08071	-0.657000	0.05373	-0.670000	0.03821	AAG		0.418	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
CCDC30	728621	broad.mit.edu	37	1	43119620	43119620	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43119620C>A	ENST00000340612.4	+	15	2273	c.2273C>A	c.(2272-2274)tCt>tAt	p.S758Y	CCDC30_ENST00000342022.4_Missense_Mutation_p.S758Y|CCDC30_ENST00000390640.4_Missense_Mutation_p.S547Y|CCDC30_ENST00000428554.2_Missense_Mutation_p.S758Y|CCDC30_ENST00000507855.1_Missense_Mutation_p.S547Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	758						extracellular vesicular exosome (GO:0070062)		p.S758Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCACAGAATTCTGAGGCTGGA	0.408																																					p.S758Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2273A	1						.						76.0	76.0	76.0					1																	43119620		2203	4300	6503	42892207	SO:0001583	missense	728621	exon16			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.2273C>A	1.37:g.43119620C>A	ENSP00000340378:p.Ser758Tyr		42892207	NM_001080850	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404045	0.62288	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.53	4.61	0.57282	.	0.102199	0.44097	D	0.000492	T	0.49525	0.1562	L	0.47190	1.495	0.18873	N	0.999981	D;D	0.54047	0.964;0.964	P;P	0.57204	0.815;0.815	T	0.42015	-0.9476	10	0.87932	D	0	.	10.7918	0.46436	0.0:0.9098:0.0:0.0902	.	758;547	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Y	758;547;758;758;547	ENSP00000397035:S758Y;ENSP00000426711:S547Y;ENSP00000340378:S758Y;ENSP00000339280:S758Y;ENSP00000375051:S547Y	ENSP00000340378:S758Y	S	+	2	0	CCDC30	42892207	0.914000	0.31030	0.887000	0.34795	0.912000	0.54170	1.526000	0.35964	2.597000	0.87782	0.655000	0.94253	TCT		0.408	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
LEPRE1	64175	broad.mit.edu	37	1	43213442	43213442	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43213442G>A	ENST00000296388.5	-	13	1917	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Silent_p.F622F|LEPRE1_ENST00000236040.4_Silent_p.F622F			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	622	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.F622F(1)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCGCCATCGAAGTCCCCAT	0.522																																					p.F622F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1866T	1						.						155.0	154.0	154.0					1																	43213442		2203	4300	6503	42986029	SO:0001819	synonymous_variant	64175	exon13			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1866C>T	1.37:g.43213442G>A			42986029	NM_022356	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Silent	SNP	ENST00000296388.5	37	CCDS472.2																																																																																				0.522	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356	
ERMAP	114625	broad.mit.edu	37	1	43302837	43302837	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43302837C>A	ENST00000372517.2	+	7	836	c.592C>A	c.(592-594)Ctt>Att	p.L198I	RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.L108I|ERMAP_ENST00000372514.3_Missense_Mutation_p.L198I|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	198			Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L198I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACAATCTTCTTTCAGACCA	0.363																																					p.L198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592A	1						.						146.0	150.0	148.0					1																	43302837		2203	4300	6503	43075424	SO:0001583	missense	114625	exon7			AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.592C>A	1.37:g.43302837C>A	ENSP00000361595:p.Leu198Ile		43075424	NM_001017922	D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691591	0.68271	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.54071	0.84;0.84;0.59	5.24	5.24	0.73138	.	0.130984	0.33631	N	0.004709	T	0.67239	0.2872	L	0.57536	1.79	0.33816	D	0.628501	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.987	T	0.72427	-0.4297	10	0.33141	T	0.24	.	14.6822	0.69026	0.0:1.0:0.0:0.0	.	259;198	B7Z3C6;Q96PL5	.;ERMAP_HUMAN	I	198;198;108	ENSP00000361595:L198I;ENSP00000361592:L198I;ENSP00000332439:L108I	ENSP00000332439:L108I	L	+	1	0	ERMAP	43075424	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.754000	0.55189	2.609000	0.88269	0.563000	0.77884	CTT		0.363	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538	
FAM183A	440585	broad.mit.edu	37	1	43616459	43616459	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43616459C>A	ENST00000335282.4	+	2	161	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Missense_Mutation_p.S26Y	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	54								p.S54Y(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						AAGCCCATGTCTTGGCATGAT	0.478																																					p.S54Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C161A	1						.						83.0	76.0	78.0					1																	43616459		1887	4114	6001	43389046	SO:0001583	missense	440585	exon2			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.161C>A	1.37:g.43616459C>A	ENSP00000334415:p.Ser54Tyr		43389046	NM_001101376	B7ZBL8	Missense_Mutation	SNP	ENST00000335282.4	37	CCDS44126.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466049	0.43839	.	.	ENSG00000186973	ENST00000409706;ENST00000410048;ENST00000410025;ENST00000409396;ENST00000335282	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000006	T	0.79287	0.4420	M	0.80847	2.515	0.43522	D	0.995791	D	0.89917	1.0	D	0.87578	0.998	T	0.82246	-0.0552	9	0.87932	D	0	.	13.9061	0.63836	0.0:1.0:0.0:0.0	.	54	A6NL82	F183A_HUMAN	Y	54;26;2;54;54	.	ENSP00000334415:S54Y	S	+	2	0	FAM183A	43389046	0.999000	0.42202	1.000000	0.80357	0.085000	0.17905	2.239000	0.43079	2.420000	0.82092	0.655000	0.94253	TCT		0.478	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3	NM_001101376	
EBNA1BP2	10969	broad.mit.edu	37	1	43632844	43632844	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43632844C>A	ENST00000236051.2	-	6	741	c.600G>T	c.(598-600)aaG>aaT	p.K200N	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.K255N	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	200					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K200N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGATATTTCTTAATAGCAT	0.433																																					p.K200N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	1						.						217.0	204.0	208.0					1																	43632844		2203	4300	6503	43405431	SO:0001583	missense	10969	exon6			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.600G>T	1.37:g.43632844C>A	ENSP00000236051:p.Lys200Asn		43405431	NM_006824	Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808085	0.70797	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.53206	0.63;0.63	6.06	4.2	0.49525	.	0.040528	0.85682	D	0.000000	T	0.63988	0.2558	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65236	-0.6217	10	0.87932	D	0	-27.672	9.9447	0.41602	0.0:0.7948:0.0:0.2052	.	200;200	Q6IB29;Q99848	.;EBP2_HUMAN	N	255;200	ENSP00000407323:K255N;ENSP00000236051:K200N	ENSP00000236051:K200N	K	-	3	2	EBNA1BP2	43405431	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.688000	0.37690	0.894000	0.36317	0.655000	0.94253	AAG		0.433	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1		
MPL	4352	broad.mit.edu	37	1	43818195	43818195	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43818195G>A	ENST00000372470.3	+	12	1702	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	554					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.A554T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCAGCCCAAGGCCACAGTCTC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														p.A554T	NSCLC(52;534 1204 10016 41452 44427)	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660A	1						.						83.0	83.0	83.0					1																	43818195		2203	4300	6503	43590782	SO:0001583	missense	4352	exon12			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1660G>A	1.37:g.43818195G>A	ENSP00000361548:p.Ala554Thr		43590782	NM_005373	Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	CCDS483.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.089463	0.36855	.	.	ENSG00000117400	ENST00000372470	D	0.82893	-1.66	3.63	2.67	0.31697	.	0.169122	0.24594	U	0.037198	T	0.82185	0.4982	L	0.60455	1.87	0.80722	D	1	D;P	0.56521	0.976;0.932	P;P	0.52598	0.703;0.559	T	0.80082	-0.1531	10	0.39692	T	0.17	-9.4776	7.1618	0.25669	0.1345:0.0:0.8655:0.0	.	547;554	Q308M1;P40238	.;TPOR_HUMAN	T	554	ENSP00000361548:A554T	ENSP00000361548:A554T	A	+	1	0	MPL	43590782	0.990000	0.36364	1.000000	0.80357	0.888000	0.51559	0.632000	0.24583	1.835000	0.53391	0.306000	0.20318	GCC		0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
SZT2	23334	broad.mit.edu	37	1	43894018	43894018	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43894018C>A	ENST00000562955.1	+	27	3856	c.3856C>A	c.(3856-3858)Ctc>Atc	p.L1286I	SZT2_ENST00000372442.1_Missense_Mutation_p.L444I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1343					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.L444I(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCCCATTTCTCCTTGCATT	0.572																																					p.L444I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1330A	1						.						151.0	120.0	130.0					1																	43894018		2203	4300	6503	43666605	SO:0001583	missense	23334	exon13			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3856C>A	1.37:g.43894018C>A	ENSP00000457168:p.Leu1286Ile		43666605	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399179	0.62177	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.54	3.27	0.37495	.	0.078821	0.52532	D	0.000071	T	0.50939	0.1645	L	0.37630	1.12	0.24712	N	0.993192	D	0.89917	1.0	D	0.83275	0.996	T	0.46261	-0.9204	9	0.23891	T	0.37	.	13.3275	0.60467	0.0:0.9106:0.0:0.0894	.	1286	Q5T011-5	.	I	444	.	ENSP00000361519:L444I	L	+	1	0	SZT2	43666605	1.000000	0.71417	0.993000	0.49108	0.869000	0.49853	3.661000	0.54503	0.461000	0.27071	0.655000	0.94253	CTC		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	broad.mit.edu	37	1	43895395	43895395	+	Silent	SNP	C	C	T	rs138401303		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43895395C>T	ENST00000562955.1	+	28	4017	c.4017C>T	c.(4015-4017)agC>agT	p.S1339S	SZT2_ENST00000372442.1_Silent_p.S497S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1396					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.S497S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGACCTAAGCGAGCCTGAGT	0.552																																					p.S497S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1491T	1						.	C		1,4405	2.1+/-5.4	0,1,2202	96.0	93.0	94.0		4017	-5.3	1.0	1	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	SZT2	NM_015284.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1339/3376	43895395	1,13005	2203	4300	6503	43667982	SO:0001819	synonymous_variant	23334	exon14			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4017C>T	1.37:g.43895395C>T			43667982	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	broad.mit.edu	37	1	43896699	43896699	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43896699C>A	ENST00000562955.1	+	32	4683	c.4683C>A	c.(4681-4683)gtC>gtA	p.V1561V	SZT2_ENST00000372442.1_Silent_p.V719V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1618					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.V719V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTGGATGTCTTCATGCTGA	0.612																																					p.V719V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2157A	1						.						66.0	62.0	63.0					1																	43896699		2203	4300	6503	43669286	SO:0001819	synonymous_variant	23334	exon18			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4683C>A	1.37:g.43896699C>A			43669286	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.612	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
SZT2	23334	broad.mit.edu	37	1	43904402	43904402	+	Missense_Mutation	SNP	C	C	A	rs145034016		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:43904402C>A	ENST00000562955.1	+	46	6370	c.6370C>A	c.(6370-6372)Cta>Ata	p.L2124I	SZT2_ENST00000471177.1_3'UTR|SZT2_ENST00000372442.1_Missense_Mutation_p.L1282I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2181					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.L1282I(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CGTGCGAGTTCTATGTCGGCG	0.572																																					p.L1282I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3844A	1						.						99.0	87.0	91.0					1																	43904402		2203	4300	6503	43676989	SO:0001583	missense	23334	exon32			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6370C>A	1.37:g.43904402C>A	ENSP00000457168:p.Leu2124Ile		43676989	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540919	0.45280	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.63390	0.2507	L	0.55990	1.75	0.26738	N	0.970441	D	0.89917	1.0	D	0.83275	0.996	T	0.59273	-0.7485	9	0.87932	D	0	.	13.1226	0.59336	0.0:0.9268:0.0:0.0732	.	2124	Q5T011-5	.	I	1282	.	ENSP00000361519:L1282I	L	+	1	2	SZT2	43676989	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	4.514000	0.60482	2.705000	0.92388	0.655000	0.94253	CTA		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
PTPRF	5792	broad.mit.edu	37	1	44019609	44019609	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:44019609G>A	ENST00000359947.4	+	5	716	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	PTPRF_ENST00000372413.3_Missense_Mutation_p.E126K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E126K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E126K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	126					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E116K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCAGTGCTCGAAGGTACGTG	0.597																																					p.E126K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						131.0	88.0	103.0					1																	44019609		2203	4300	6503	43792196	SO:0001583	missense	5792	exon5			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.376G>A	1.37:g.44019609G>A	ENSP00000353030:p.Glu126Lys		43792196	NM_130440	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031955	0.54790	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000437607	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.74	4.74	0.60224	Immunoglobulin-like fold (1);	0.000000	0.35349	N	0.003267	T	0.29749	0.0743	L	0.41356	1.27	0.80722	D	1	B;P;P;P	0.46621	0.094;0.881;0.688;0.61	B;B;B;B	0.36608	0.04;0.229;0.039;0.065	T	0.27020	-1.0086	10	0.02654	T	1	.	18.1107	0.89534	0.0:0.0:1.0:0.0	.	126;126;126;126	Q5T020;P10586-2;P10586;Q5T019	.;.;PTPRF_HUMAN;.	K	126	ENSP00000353030:E126K;ENSP00000398822:E126K;ENSP00000361491:E126K;ENSP00000361490:E126K;ENSP00000413306:E126K	ENSP00000353030:E126K	E	+	1	0	PTPRF	43792196	1.000000	0.71417	0.986000	0.45419	0.837000	0.47467	3.894000	0.56250	2.334000	0.79466	0.655000	0.94253	GAA		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
KDM4A	9682	broad.mit.edu	37	1	44169767	44169767	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:44169767G>T	ENST00000372396.3	+	21	3172	c.3038G>T	c.(3037-3039)aGa>aTa	p.R1013I	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1013					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R1013I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTCCCAAGAGAGTCAAATCT	0.468																																					p.R1013I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3038T	1						.						223.0	216.0	218.0					1																	44169767		2203	4300	6503	43942354	SO:0001583	missense	9682	exon21			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3038G>T	1.37:g.44169767G>T	ENSP00000361473:p.Arg1013Ile		43942354	NM_014663	Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342063	0.81911	.	.	ENSG00000066135	ENST00000372396	T	0.76709	-1.04	6.08	6.08	0.98989	.	0.038032	0.85682	D	0.000000	D	0.84329	0.5448	M	0.76170	2.325	0.80722	D	1	D	0.57899	0.981	P	0.55161	0.77	D	0.85668	0.1293	10	0.87932	D	0	-18.8086	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	1013	O75164	KDM4A_HUMAN	I	1013	ENSP00000361473:R1013I	ENSP00000361473:R1013I	R	+	2	0	KDM4A	43942354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.002000	0.88514	2.894000	0.99253	0.655000	0.94253	AGA		0.468	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
ST3GAL3	6487	broad.mit.edu	37	1	44365219	44365219	+	Silent	SNP	T	T	C	rs138286395		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:44365219T>C	ENST00000361392.4	+	9	741	c.564T>C	c.(562-564)aaT>aaC	p.N188N	ST3GAL3_ENST00000332628.6_Silent_p.N157N|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372374.2_Silent_p.N157N|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000531993.1_Silent_p.N172N|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.N242N|ST3GAL3_ENST00000372372.2_Silent_p.N226N|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372368.2_Silent_p.N242N|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000262915.3_Silent_p.N257N|ST3GAL3_ENST00000351035.3_Silent_p.N226N|ST3GAL3_ENST00000361746.4_Silent_p.N257N|ST3GAL3_ENST00000353126.3_Silent_p.N188N|ST3GAL3_ENST00000361400.4_Silent_p.N172N|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000347631.2_Silent_p.N203N|ST3GAL3_ENST00000533933.1_Silent_p.N188N|ST3GAL3_ENST00000372369.1_Silent_p.N188N	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	188					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.N257N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GTAGACTGAATTCAGCACCAG	0.592																																					p.N203N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T609C	1						.	T	,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	74.0	69.0	71.0		564,771,609,,564,,726,516,,678	3.1	1.0	1	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous	ST3GAL3	NM_006279.2,NM_174963.2,NM_174964.1,NM_174965.1,NM_174966.1,NM_174967.1,NM_174968.2,NM_174969.1,NM_174970.1,NM_174971.2	,,,,,,,,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,,,,,,,,	188/376,257/445,203/391,,188/278,,242/430,172/360,,226/414	44365219	1,13005	2203	4300	6503	44137806	SO:0001819	synonymous_variant	6487	exon9			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.564T>C	1.37:g.44365219T>C			44137806	NM_174964	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.592	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
ATP6V0B	533	broad.mit.edu	37	1	44442883	44442883	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:44442883C>A	ENST00000472174.2	+	7	979	c.586C>A	c.(586-588)Ctt>Att	p.L196I	ATP6V0B_ENST00000236067.4_Missense_Mutation_p.L149I|ATP6V0B_ENST00000532642.1_Missense_Mutation_p.L196I|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.L149I|B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000356836.6_5'Flank|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.L243I	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	196					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)	p.L196I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CGTCGCAATTCTTCAGGTGAT	0.532																																					p.L196I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C586A	1						.						70.0	74.0	72.0					1																	44442883		2203	4300	6503	44215470	SO:0001583	missense	533	exon7			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.586C>A	1.37:g.44442883C>A	ENSP00000431605:p.Leu196Ile		44215470	NM_004047	D3DPY5|Q6IB32	Missense_Mutation	SNP	ENST00000472174.2	37	CCDS505.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.982|6.982	0.551156|0.551156	0.13374|0.13374	.|.	.|.	ENSG00000117410|ENSG00000117410	ENST00000440531|ENST00000472174;ENST00000532642;ENST00000236067;ENST00000471859;ENST00000498664	.|T;T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69;0.69	4.37|4.37	4.37|4.37	0.52481|0.52481	.|ATPase, F0/V0 complex, subunit C (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27063|0.27063	0.0663|0.0663	N|N	0.10707|0.10707	0.03|0.03	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27351	.|0.036;0.176	.|B;B	.|0.36666	.|0.047;0.23	T|T	0.11916|0.11916	-1.0568|-1.0568	6|10	0.87932|0.05351	D|T	0|0.99	-10.3698|-10.3698	11.3852|11.3852	0.49780|0.49780	0.0:0.9145:0.0:0.0855|0.0:0.9145:0.0:0.0855	.|.	.|196;196	.|Q99437;E9PNL3	.|VATO_HUMAN;.	L|I	37|196;196;149;243;149	.|ENSP00000431605:L196I;ENSP00000434729:L196I;ENSP00000236067:L149I;ENSP00000432754:L243I;ENSP00000434094:L149I	ENSP00000408413:F37L|ENSP00000236067:L149I	F|L	+|+	3|1	2|0	ATP6V0B|ATP6V0B	44215470|44215470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	2.752000|2.752000	0.47516|0.47516	2.379000|2.379000	0.81126|0.81126	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.532	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047	
ERI3	79033	broad.mit.edu	37	1	44804818	44804818	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:44804818C>T	ENST00000372257.2	-	3	569	c.388G>A	c.(388-390)Gca>Aca	p.A130T	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	130							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A130T(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCATGGATGCGCCAAAGCCG	0.542																																					p.A130T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	1						.						131.0	141.0	138.0					1																	44804818		2203	4300	6503	44577405	SO:0001583	missense	79033	exon3			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.388G>A	1.37:g.44804818C>T	ENSP00000361331:p.Ala130Thr		44577405	NM_024066	B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	ENST00000372257.2	37	CCDS30696.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546424	0.65198	.	.	ENSG00000117419	ENST00000372257;ENST00000457571	.	.	.	6.07	5.16	0.70880	.	0.239846	0.36740	N	0.002437	T	0.41213	0.1149	N	0.19112	0.55	0.80722	D	1	B;B;B	0.31209	0.012;0.138;0.313	B;B;B	0.20577	0.006;0.026;0.03	T	0.33189	-0.9878	9	0.42905	T	0.14	.	14.4499	0.67376	0.0:0.9301:0.0:0.0699	.	128;52;130	F6UGJ8;B4DN03;O43414	.;.;ERI3_HUMAN	T	130;128	.	ENSP00000361331:A130T	A	-	1	0	ERI3	44577405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.872000	0.63050	1.586000	0.49944	-0.136000	0.14681	GCA		0.542	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066	
KIF2C	11004	broad.mit.edu	37	1	45223278	45223278	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45223278C>A	ENST00000372224.4	+	11	1141	c.1028C>A	c.(1027-1029)aCt>aAt	p.T343N	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372217.1_Missense_Mutation_p.T289N|KIF2C_ENST00000372218.4_Missense_Mutation_p.T302N|KIF2C_ENST00000372222.3_Missense_Mutation_p.T230N|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	343	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.T343N(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GGAAAAGCAACTTGTTTTGCA	0.502																																					p.T343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1028A	1						.						119.0	112.0	114.0					1																	45223278		2203	4300	6503	44995865	SO:0001583	missense	11004	exon11			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1028C>A	1.37:g.45223278C>A	ENSP00000361298:p.Thr343Asn		44995865	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180411	0.94846	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.65	5.65	0.86999	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	H	0.95504	3.68	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.72075	0.957;0.975;0.976	D	0.93027	0.6445	10	0.59425	D	0.04	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	302;289;343	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	N	302;343;302;230;289	ENSP00000410346:T302N;ENSP00000361298:T343N;ENSP00000361292:T302N;ENSP00000361296:T230N;ENSP00000361291:T289N	ENSP00000361291:T289N	T	+	2	0	KIF2C	44995865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	ACT		0.502	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
HECTD3	79654	broad.mit.edu	37	1	45469395	45469395	+	Missense_Mutation	SNP	G	G	A	rs200632297		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45469395G>A	ENST00000372172.4	-	20	2518	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	HECTD3_ENST00000372168.3_Missense_Mutation_p.A426V|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	816	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A816V(1)|p.A426V(1)|p.A532V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CTCGGGCAGCGCGTCTGTGGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19899	0.0		0.001	False		,,,				2504	0.0				p.A816V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2447T	1						.						62.0	71.0	68.0					1																	45469395		2088	4226	6314	45241982	SO:0001583	missense	79654	exon20			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2447C>T	1.37:g.45469395G>A	ENSP00000361245:p.Ala816Val		45241982	NM_024602	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	CCDS41318.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	18.11	3.551727	0.65311	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.58652	0.32;0.32	5.74	5.74	0.90152	HECT (4);	0.145674	0.64402	D	0.000008	T	0.47210	0.1433	L	0.41356	1.27	0.52501	D	0.999956	P;P	0.47841	0.796;0.901	B;B	0.38106	0.265;0.254	T	0.49688	-0.8913	10	0.44086	T	0.13	.	13.5904	0.61957	0.0801:0.0:0.9199:0.0	.	816;426	Q5T447;Q5T447-2	HECD3_HUMAN;.	V	816;426	ENSP00000361245:A816V;ENSP00000361241:A426V	ENSP00000361241:A426V	A	-	2	0	HECTD3	45241982	0.785000	0.28726	0.398000	0.26321	0.891000	0.51852	3.064000	0.49986	2.717000	0.92951	0.558000	0.71614	GCG		0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
HECTD3	79654	broad.mit.edu	37	1	45476352	45476352	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45476352G>A	ENST00000372172.4	-	2	467	c.396C>T	c.(394-396)gaC>gaT	p.D132D	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	132					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D132D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCAGCCCGCAGTCGCCCAGGT	0.716																																					p.D132D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	1						.						8.0	10.0	9.0					1																	45476352		2000	4175	6175	45248939	SO:0001819	synonymous_variant	79654	exon2			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.396C>T	1.37:g.45476352G>A			45248939	NM_024602	B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	CCDS41318.1																																																																																				0.716	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602	
UROD	7389	broad.mit.edu	37	1	45479683	45479683	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45479683C>T	ENST00000246337.4	+	6	696	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	193			R -> P (in FPCT; insoluble protein). {ECO:0000269|PubMed:11719352}.		heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)	p.R193C(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCAGCTGCTTCGCATCCTCAC	0.557									Porphyria Cutanea Tarda, Type II																												p.R193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	1						.						97.0	96.0	96.0					1																	45479683		2203	4300	6503	45252270	SO:0001583	missense	7389	exon6	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.577C>T	1.37:g.45479683C>T	ENSP00000246337:p.Arg193Cys		45252270	NM_000374	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	ENST00000246337.4	37	CCDS518.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955682	0.53293	.	.	ENSG00000126088	ENST00000246337;ENST00000434478;ENST00000372135	D;D	0.94497	-3.44;-3.44	5.26	1.05	0.20165	Uroporphyrinogen decarboxylase (URO-D) (1);	0.601453	0.18645	N	0.135167	D	0.94512	0.8233	M	0.72353	2.195	0.24283	N	0.9952	D;D	0.58970	0.984;0.958	P;P	0.58970	0.849;0.704	D	0.87318	0.2316	10	0.87932	D	0	-1.1563	2.7308	0.05226	0.1876:0.4398:0.2267:0.146	.	137;193	B4DEM5;P06132	.;DCUP_HUMAN	C	193;172;172	ENSP00000246337:R193C;ENSP00000404489:R172C	ENSP00000246337:R193C	R	+	1	0	UROD	45252270	0.064000	0.20934	0.804000	0.32291	0.825000	0.46686	0.444000	0.21661	0.360000	0.24265	-0.123000	0.14984	CGC		0.557	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374	
MUTYH	4595	broad.mit.edu	37	1	45797952	45797952	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45797952G>T	ENST00000372098.3	-	10	943	c.810C>A	c.(808-810)gcC>gcA	p.A270A	MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000354383.6_Silent_p.A246A|MUTYH_ENST00000450313.1_Silent_p.A273A|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372104.1_Silent_p.A245A|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000528013.2_Silent_p.A259A|MUTYH_ENST00000456914.2_Silent_p.A245A|MUTYH_ENST00000372100.5_Silent_p.A256A|MUTYH_ENST00000355498.2_Silent_p.A245A|MUTYH_ENST00000448481.1_Silent_p.A256A|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372115.3_Silent_p.A259A|MUTYH_ENST00000372110.3_Silent_p.A260A			Q9UIF7	MUTYH_HUMAN	mutY homolog	270					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.A270A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCCTGGCCGGGCTGGGTCCA	0.612			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.A245A		yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C735A	1						.						29.0	31.0	30.0					1																	45797952		2203	4300	6503	45570539	SO:0001819	synonymous_variant	4595	exon10	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.810C>A	1.37:g.45797952G>T			45570539	NM_001048173	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1																																																																																				0.612	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
MUTYH	4595	broad.mit.edu	37	1	45800151	45800151	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45800151T>C	ENST00000372098.3	-	2	202	c.69A>G	c.(67-69)ggA>ggG	p.G23G	MUTYH_ENST00000529984.1_Silent_p.G9G|MUTYH_ENST00000354383.6_Silent_p.G9G|MUTYH_ENST00000450313.1_Silent_p.G23G|MUTYH_ENST00000488731.2_Silent_p.G9G|MUTYH_ENST00000372104.1_Silent_p.G9G|MUTYH_ENST00000531105.1_Silent_p.G9G|MUTYH_ENST00000528013.2_Silent_p.G9G|MUTYH_ENST00000456914.2_Silent_p.G9G|MUTYH_ENST00000372100.5_Silent_p.G9G|MUTYH_ENST00000355498.2_Silent_p.G9G|MUTYH_ENST00000448481.1_Silent_p.G9G|MUTYH_ENST00000528332.2_Silent_p.G23G|MUTYH_ENST00000372115.3_Silent_p.G23G|MUTYH_ENST00000372110.3_Silent_p.G23G			Q9UIF7	MUTYH_HUMAN	mutY homolog	23					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)	p.G23G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGTGACCACTTCCCACGGCTG	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																												p.G9G		yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A27G	1						.						136.0	107.0	117.0					1																	45800151		2203	4300	6503	45572738	SO:0001819	synonymous_variant	4595	exon2	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.69A>G	1.37:g.45800151T>C			45572738	NM_001048173	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	ENST00000372098.3	37	CCDS520.1																																																																																				0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222	
PRDX1	5052	broad.mit.edu	37	1	45981393	45981393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:45981393C>A	ENST00000262746.1	-	3	532	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000319248.8_Nonsense_Mutation_p.E65*	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	65	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)	p.E65*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TTCTTAAATTCTTCTGCCCTA	0.423																																					p.E65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G193T	1						.						114.0	110.0	112.0					1																	45981393		2203	4300	6503	45753980	SO:0001587	stop_gained	5052	exon3			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.193G>T	1.37:g.45981393C>A	ENSP00000262746:p.Glu65*		45753980	NM_181696	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Nonsense_Mutation	SNP	ENST00000262746.1	37	CCDS522.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774863	0.90108	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	.	.	.	5.9	5.9	0.94986	.	0.089877	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.8716	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000262746:E65X	E	-	1	0	PRDX1	45753980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.499000	0.81566	2.793000	0.96121	0.563000	0.77884	GAA		0.423	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1	NM_181697	
IPP	3652	broad.mit.edu	37	1	46193353	46193353	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46193353C>T	ENST00000396478.3	-	5	1100	c.998G>A	c.(997-999)cGa>cAa	p.R333Q		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	333						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R333Q(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CAGCCCACTTCGAGCCTGATG	0.463																																					p.R333Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	1						.						170.0	158.0	163.0					1																	46193353		2203	4300	6503	45965940	SO:0001583	missense	3652	exon5			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.998G>A	1.37:g.46193353C>T	ENSP00000379739:p.Arg333Gln		45965940	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	36	5.917089	0.97099	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.85773	-2.03;-2.03	5.86	5.86	0.93980	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93858	0.8035	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93810	0.7109	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	333;333	Q9Y573;A2A6V3	IPP_HUMAN;.	Q	333	ENSP00000353024:R333Q;ENSP00000379739:R333Q	ENSP00000353024:R333Q	R	-	2	0	IPP	45965940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.937000	0.99478	0.650000	0.86243	CGA		0.463	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
IPP	3652	broad.mit.edu	37	1	46206666	46206666	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46206666C>A	ENST00000396478.3	-	3	733	c.631G>T	c.(631-633)Gat>Tat	p.D211Y		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	211						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.D211Y(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTTCCCAAATCTTTCAGAATC	0.378																																					p.D211Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	1						.						169.0	166.0	167.0					1																	46206666		2203	4300	6503	45979253	SO:0001583	missense	3652	exon3			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.631G>T	1.37:g.46206666C>A	ENSP00000379739:p.Asp211Tyr		45979253	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280990	0.80692	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.72394	-0.65;-0.65	5.17	5.17	0.71159	BTB/Kelch-associated (2);	0.092632	0.64402	D	0.000001	D	0.89815	0.6824	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.74348	0.976;0.983	D	0.93118	0.6522	10	0.87932	D	0	.	19.0334	0.92967	0.0:1.0:0.0:0.0	.	211;211	Q9Y573;A2A6V3	IPP_HUMAN;.	Y	211	ENSP00000353024:D211Y;ENSP00000379739:D211Y	ENSP00000353024:D211Y	D	-	1	0	IPP	45979253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.398000	0.79919	2.577000	0.86979	0.643000	0.83706	GAT		0.378	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
IPP	3652	broad.mit.edu	37	1	46211843	46211843	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46211843G>T	ENST00000396478.3	-	2	343	c.241C>A	c.(241-243)Cta>Ata	p.L81I		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.L81I(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TCAATTCCTAGAATCGGTACA	0.398																																					p.L81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C241A	1						.						87.0	85.0	86.0					1																	46211843		2203	4300	6503	45984430	SO:0001583	missense	3652	exon2			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.241C>A	1.37:g.46211843G>T	ENSP00000379739:p.Leu81Ile		45984430	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782113	0.31502	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.67345	-0.26;-0.26	5.57	3.68	0.42216	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.320343	0.30076	N	0.010465	T	0.46190	0.1380	L	0.27053	0.805	0.30371	N	0.782859	B;P	0.40534	0.311;0.72	B;B	0.37601	0.222;0.254	T	0.46707	-0.9172	10	0.30854	T	0.27	.	4.6969	0.12808	0.1429:0.1259:0.6146:0.1166	.	81;81	Q9Y573;A2A6V3	IPP_HUMAN;.	I	81	ENSP00000353024:L81I;ENSP00000379739:L81I	ENSP00000353024:L81I	L	-	1	2	IPP	45984430	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.279000	0.33191	1.353000	0.45828	0.655000	0.94253	CTA		0.398	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
PIK3R3	8503	broad.mit.edu	37	1	46509490	46509490	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46509490C>T	ENST00000262741.5	-	10	1930	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	PIK3R3_ENST00000420542.1_Missense_Mutation_p.G414D|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.G319D|PIK3R3_ENST00000354242.4_Missense_Mutation_p.G355D|PIK3R3_ENST00000540385.1_Missense_Mutation_p.G460D|PIK3R3_ENST00000423209.1_Missense_Mutation_p.G355D|PIK3R3_ENST00000372006.1_Missense_Mutation_p.G414D|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	414	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.G414D(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CTCTGCAAAGCCATAGCCCCG	0.507																																					p.G414D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1241A	1						.						130.0	110.0	117.0					1																	46509490		2203	4300	6503	46282077	SO:0001583	missense	8503	exon10			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1241G>A	1.37:g.46509490C>T	ENSP00000262741:p.Gly414Asp		46282077	NM_003629	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844359	0.91197	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.77	5.77	0.91146	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.995;1.0	D	0.94775	0.7948	10	0.87932	D	0	-3.2593	19.9915	0.97366	0.0:1.0:0.0:0.0	.	460;447;355;414	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	D	414;414;414;355;319;460;355	ENSP00000361075:G414D;ENSP00000262741:G414D;ENSP00000412546:G414D;ENSP00000346188:G355D;ENSP00000342484:G319D;ENSP00000439913:G460D;ENSP00000391431:G355D	ENSP00000262741:G414D	G	-	2	0	PIK3R3	46282077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	GGC		0.507	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
PIK3R3	8503	broad.mit.edu	37	1	46511630	46511630	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46511630G>A	ENST00000262741.5	-	9	1836	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	PIK3R3_ENST00000420542.1_Missense_Mutation_p.R383C|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R288C|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R324C|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R429C|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R324C|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R383C|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	383	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.R383C(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	CTACTCTCACGAATTAAGAAT	0.393																																					p.R383C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	1						.						182.0	170.0	174.0					1																	46511630		2203	4300	6503	46284217	SO:0001583	missense	8503	exon9			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1147C>T	1.37:g.46511630G>A	ENSP00000262741:p.Arg383Cys		46284217	NM_003629	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492234	0.96339	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	6.08	6.08	0.98989	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.99740	4.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.96844	0.9620	10	0.87932	D	0	-6.8398	20.6634	0.99662	0.0:0.0:1.0:0.0	.	429;416;324;383	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	C	383;383;383;324;288;429;324	ENSP00000361075:R383C;ENSP00000262741:R383C;ENSP00000412546:R383C;ENSP00000346188:R324C;ENSP00000342484:R288C;ENSP00000439913:R429C;ENSP00000391431:R324C	ENSP00000262741:R383C	R	-	1	0	PIK3R3	46284217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.894000	0.87336	2.894000	0.99253	0.655000	0.94253	CGT		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
PIK3R3	8503	broad.mit.edu	37	1	46521491	46521491	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46521491C>T	ENST00000262741.5	-	7	1606	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	306					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TCGGATCTTTCGCAGCTGGAT	0.453																																					p.R306Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917A	1						.						221.0	201.0	208.0					1																	46521491		2203	4300	6503	46294078	SO:0001583	missense	8503	exon7			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.917G>A	1.37:g.46521491C>T	ENSP00000262741:p.Arg306Gln		46294078	NM_003629	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055908	0.76074	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000540385	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.48	4.54	0.55810	.	0.048598	0.85682	D	0.000000	T	0.31606	0.0802	M	0.76002	2.32	0.80722	D	1	B;P;B	0.35807	0.311;0.522;0.171	B;B;B	0.19946	0.01;0.027;0.011	T	0.20306	-1.0279	10	0.41790	T	0.15	.	15.723	0.77728	0.1377:0.8623:0.0:0.0	.	352;339;306	F6TDL0;Q7Z3W2;Q92569	.;.;P55G_HUMAN	Q	306;306;306;352	ENSP00000361075:R306Q;ENSP00000262741:R306Q;ENSP00000412546:R306Q;ENSP00000439913:R352Q	ENSP00000262741:R306Q	R	-	2	0	PIK3R3	46294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.409000	0.46915	0.650000	0.86243	CGA		0.453	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629	
TSPAN1	10103	broad.mit.edu	37	1	46649988	46649988	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46649988C>T	ENST00000372003.1	+	4	647	c.183C>T	c.(181-183)atC>atT	p.I61I	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	61					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.I61I(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				ACTTCCTCATCGCAGCCGGCG	0.562																																					p.I61I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	1						.						183.0	139.0	153.0					1																	46649988		2203	4300	6503	46422575	SO:0001819	synonymous_variant	10103	exon4			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.183C>T	1.37:g.46649988C>T			46422575	NM_005727	D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	CCDS530.1																																																																																				0.562	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727	
LURAP1	541468	broad.mit.edu	37	1	46685434	46685434	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:46685434G>A	ENST00000371980.3	+	2	355	c.262G>A	c.(262-264)Gag>Aag	p.E88K	POMGNT1_ENST00000371992.1_5'UTR|POMGNT1_ENST00000396420.3_5'UTR	NM_001013615.2	NP_001013633.1	Q96LR2	LURA1_HUMAN	leucine rich adaptor protein 1	88					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)		p.E88K(1)									TGAGGGCATCGAGGCAGTGCG	0.602																																					p.E88K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	1						.						71.0	64.0	66.0					1																	46685434		2203	4300	6503	46458021	SO:0001583	missense	541468	exon2			AK057892	CCDS30703.1	1p34.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000171357	ENSG00000171357			32327	protein-coding gene	gene with protein product	"""leucine repeat adaptor protein 35a"""		"""chromosome 1 open reading frame 190"""	C1orf190		21048106	Standard	NM_001013615		Approved	FLJ25163, LRAP35a	uc010oma.2	Q96LR2	OTTHUMG00000007605	ENST00000371980.3:c.262G>A	1.37:g.46685434G>A	ENSP00000361048:p.Glu88Lys		46458021	NM_001013615		Missense_Mutation	SNP	ENST00000371980.3	37	CCDS30703.1	.	.	.	.	.	.	.	.	.	.	G	36	5.843784	0.97016	.	.	ENSG00000171357	ENST00000371980	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78687	-0.2107	9	0.87932	D	0	-14.081	20.0956	0.97842	0.0:0.0:1.0:0.0	.	88	Q96LR2	LP35A_HUMAN	K	88	.	ENSP00000361048:E88K	E	+	1	0	C1orf190	46458021	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.720000	0.98763	2.746000	0.94184	0.650000	0.86243	GAG		0.602	LURAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020154.1	NM_001013615	
ATPAF1	64756	broad.mit.edu	37	1	47119537	47119537	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47119537A>C	ENST00000371937.4	-	5	596	c.492T>G	c.(490-492)atT>atG	p.I164M	ATPAF1_ENST00000542495.1_Missense_Mutation_p.I13M|ATPAF1_ENST00000574428.1_Missense_Mutation_p.I164M|ATPAF1_ENST00000532925.1_Missense_Mutation_p.I76M|ATPAF1_ENST00000576409.1_Missense_Mutation_p.I187M|ATPAF1_ENST00000329231.4_Missense_Mutation_p.I187M	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	164					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)		p.I164M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATTGCTGCCAAATCTGTACAA	0.393																																					p.I164M	Melanoma(138;107 1777 21672 30337 52312)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T492G	1						.						124.0	114.0	117.0					1																	47119537		2203	4300	6503	46892124	SO:0001583	missense	64756	exon5			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.492T>G	1.37:g.47119537A>C	ENSP00000361005:p.Ile164Met		46892124	NM_022745	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	ENST00000371937.4	37		.	.	.	.	.	.	.	.	.	.	A	17.77	3.472295	0.63737	.	.	ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	T	0.59502	0.26	5.8	3.51	0.40186	.	0.104107	0.64402	D	0.000003	T	0.71879	0.3392	M	0.84219	2.685	0.58432	D	0.999996	D;D;D	0.76494	0.989;0.994;0.999	P;P;D	0.72625	0.9;0.879;0.978	T	0.72043	-0.4409	10	0.72032	D	0.01	-7.1469	4.8697	0.13625	0.7071:0.0:0.1536:0.1392	.	76;164;164	B7Z7I6;A8MRA7;Q5TC12	.;.;ATPF1_HUMAN	M	164;78;13;164;76	ENSP00000361005:I164M	ENSP00000330685:I164M	I	-	3	3	ATPAF1	46892124	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.214000	0.32419	1.016000	0.39470	0.528000	0.53228	ATT		0.393	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		NM_022745	
CYP4B1	1580	broad.mit.edu	37	1	47283832	47283832	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47283832G>T	ENST00000271153.4	+	11	1335	c.1299G>T	c.(1297-1299)gaG>gaT	p.E433D	CYP4B1_ENST00000371919.4_Missense_Mutation_p.E419D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.E434D|CYP4B1_ENST00000452782.2_Missense_Mutation_p.E271D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	433					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.E433D(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTTCCACTGAGAATGCATCCA	0.582																																					p.E434D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1302T	1						.						152.0	140.0	144.0					1																	47283832		2203	4300	6503	47056419	SO:0001583	missense	1580	exon11			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1299G>T	1.37:g.47283832G>T	ENSP00000271153:p.Glu433Asp		47056419	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	8.705	0.910675	0.17833	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.80480	-1.38;-1.38;-0.55;-1.38	6.17	3.33	0.38152	.	0.046343	0.85682	N	0.000000	D	0.83760	0.5324	L	0.56280	1.765	0.44149	D	0.99694	D;B;B	0.76494	0.999;0.029;0.035	D;B;B	0.74674	0.984;0.108;0.173	T	0.80482	-0.1363	10	0.46703	T	0.11	.	5.8952	0.18935	0.2729:0.1375:0.5896:0.0	.	419;434;433	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	D	434;433;419;271	ENSP00000360991:E434D;ENSP00000271153:E433D;ENSP00000360987:E419D;ENSP00000400413:E271D	ENSP00000271153:E433D	E	+	3	2	CYP4B1	47056419	1.000000	0.71417	0.974000	0.42286	0.004000	0.04260	1.242000	0.32755	0.493000	0.27837	-0.136000	0.14681	GAG		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
CYP4A11	1579	broad.mit.edu	37	1	47407021	47407021	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47407021G>T	ENST00000310638.4	-	1	116	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	CYP4A11_ENST00000462347.1_Missense_Mutation_p.L29M|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L29M|CYP4A11_ENST00000371905.1_Missense_Mutation_p.L29M|CYP4A11_ENST00000457840.2_De_novo_Start_InFrame	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	29	Poly-Leu.				arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.L29M(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	ATCAGCAGCAGAAGCAGAATG	0.607																																					p.L29M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85A	1						.						105.0	99.0	101.0					1																	47407021		2203	4300	6503	47179608	SO:0001583	missense	1579	exon1			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.85C>A	1.37:g.47407021G>T	ENSP00000311095:p.Leu29Met		47179608	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	-	15.16	2.751885	0.49362	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.73681	-0.77;-0.72;-0.69	4.64	2.75	0.32379	.	0.719601	0.12528	N	0.461057	D	0.82986	0.5156	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79215	-0.1895	10	0.87932	D	0	.	3.978	0.09483	0.2973:0.1788:0.5239:0.0	.	29	Q02928	CP4AB_HUMAN	M	29	ENSP00000311095:L29M;ENSP00000360971:L29M;ENSP00000360972:L29M	ENSP00000311095:L29M	L	-	1	2	CYP4A11	47179608	0.007000	0.16637	0.995000	0.50966	0.704000	0.40688	1.489000	0.35562	0.672000	0.31204	0.644000	0.83932	CTG		0.607	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
CYP4X1	260293	broad.mit.edu	37	1	47515096	47515096	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47515096C>A	ENST00000371901.3	+	11	1525	c.1275C>A	c.(1273-1275)gtC>gtA	p.V425V	CYP4X1_ENST00000538609.1_Silent_p.V424V	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	425						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V425V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATTTCAGGTCTTTGACCCCT	0.443																																					p.V425V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275A	1						.						186.0	187.0	187.0					1																	47515096		2203	4300	6503	47287683	SO:0001819	synonymous_variant	260293	exon11			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1275C>A	1.37:g.47515096C>A			47287683	NM_178033	G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	CCDS544.1																																																																																				0.443	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
CYP4Z1	199974	broad.mit.edu	37	1	47581250	47581250	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47581250C>A	ENST00000334194.3	+	10	1254	c.1251C>A	c.(1249-1251)ttC>ttA	p.F417L	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	417						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F417L(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACCCCTATTTCTGGGAAGACC	0.443																																					p.F417L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1251A	1						.						106.0	96.0	99.0					1																	47581250		2203	4300	6503	47353837	SO:0001583	missense	199974	exon10			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1251C>A	1.37:g.47581250C>A	ENSP00000334246:p.Phe417Leu		47353837	NM_178134	Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	CCDS545.1	.	.	.	.	.	.	.	.	.	.	c	14.84	2.655473	0.47467	.	.	ENSG00000186160	ENST00000334194	T	0.66638	-0.22	2.7	0.363	0.16118	.	0.201444	0.30809	U	0.008823	T	0.39835	0.1093	N	0.10664	0.02	0.09310	N	0.999993	B	0.20671	0.047	B	0.19148	0.024	T	0.31724	-0.9933	10	0.62326	D	0.03	.	5.9386	0.19179	0.2151:0.575:0.2099:0.0	.	417	Q86W10	CP4Z1_HUMAN	L	417	ENSP00000334246:F417L	ENSP00000334246:F417L	F	+	3	2	CYP4Z1	47353837	0.978000	0.34361	0.152000	0.22495	0.893000	0.52053	1.165000	0.31822	0.322000	0.23283	0.271000	0.19318	TTC		0.443	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	
STIL	6491	broad.mit.edu	37	1	47735434	47735434	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47735434C>T	ENST00000360380.3	-	15	2851	c.2488G>A	c.(2488-2490)Gat>Aat	p.D830N	STIL_ENST00000243182.6_Missense_Mutation_p.D830N|STIL_ENST00000371877.3_Missense_Mutation_p.D830N|STIL_ENST00000396221.2_Missense_Mutation_p.D830N|STIL_ENST00000337817.5_Missense_Mutation_p.D830N	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	830					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D830N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTATTAATATCGACAGAAAAA	0.388																																					p.D830N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2488A	1						.						122.0	124.0	123.0					1																	47735434		2203	4300	6503	47508021	SO:0001583	missense	6491	exon14			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.2488G>A	1.37:g.47735434C>T	ENSP00000353544:p.Asp830Asn		47508021	NM_001048166	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.89|12.89	2.073126|2.073126	0.36566|0.36566	.|.	.|.	ENSG00000123473|ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371874;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475|ENST00000436811	T;T;T;T;T;T|.	0.45276|.	2.25;2.25;2.26;2.28;2.25;0.9|.	4.57|4.57	2.65|2.65	0.31530|0.31530	.|.	0.854777|.	0.10835|.	N|.	0.628890|.	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.48642|0.48642	1.525|1.525	0.24382|0.24382	N|N	0.99479|0.99479	D;P;D;D;D|.	0.56968|.	0.978;0.95;0.978;0.978;0.978|.	P;B;P;P;P|.	0.44597|.	0.454;0.257;0.454;0.454;0.454|.	T|T	0.23868|0.23868	-1.0176|-1.0176	10|5	0.20046|.	T|.	0.44|.	-14.6814|-14.6814	6.1933|6.1933	0.20536|0.20536	0.0:0.6576:0.0:0.3424|0.0:0.6576:0.0:0.3424	.|.	830;783;830;830;830|.	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468|.	.;.;.;.;STIL_HUMAN|.	N|Q	830;830;169;830;830;830;783|169	ENSP00000353544:D830N;ENSP00000337367:D830N;ENSP00000360944:D830N;ENSP00000379523:D830N;ENSP00000243182:D830N;ENSP00000411664:D783N|.	ENSP00000243182:D830N|.	D|R	-|-	1|2	0|0	STIL|STIL	47508021|47508021	0.705000|0.705000	0.27846|0.27846	0.996000|0.996000	0.52242|0.52242	0.936000|0.936000	0.57629|0.57629	0.706000|0.706000	0.25690|0.25690	1.145000|1.145000	0.42336|0.42336	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.388	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
STIL	6491	broad.mit.edu	37	1	47746274	47746274	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47746274G>T	ENST00000360380.3	-	13	2219	c.1856C>A	c.(1855-1857)tCt>tAt	p.S619Y	STIL_ENST00000243182.6_Missense_Mutation_p.S619Y|STIL_ENST00000371877.3_Missense_Mutation_p.S619Y|STIL_ENST00000396221.2_Missense_Mutation_p.S619Y|STIL_ENST00000337817.5_Missense_Mutation_p.S619Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	619	PIN1-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S619Y(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCTTGCCAAGAATTTAGCGG	0.443																																					p.S619Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1856A	1						.						159.0	161.0	161.0					1																	47746274		2203	4300	6503	47518861	SO:0001583	missense	6491	exon12			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1856C>A	1.37:g.47746274G>T	ENSP00000353544:p.Ser619Tyr		47518861	NM_001048166	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458509	0.43634	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.52983	1.99;1.99;1.99;1.98;1.99;0.64	5.54	4.44	0.53790	.	0.541442	0.21276	N	0.077237	T	0.52693	0.1750	L	0.32530	0.975	0.35234	D	0.77714	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.63381	0.914;0.914;0.914;0.914;0.914	T	0.63014	-0.6731	10	0.72032	D	0.01	-17.2815	10.8053	0.46514	0.0793:0.1344:0.7862:0.0	.	619;572;619;619;619	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	619;619;619;619;619;572	ENSP00000353544:S619Y;ENSP00000337367:S619Y;ENSP00000360944:S619Y;ENSP00000379523:S619Y;ENSP00000243182:S619Y;ENSP00000411664:S572Y	ENSP00000243182:S619Y	S	-	2	0	STIL	47518861	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	3.861000	0.56002	2.613000	0.88420	0.650000	0.86243	TCT		0.443	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
STIL	6491	broad.mit.edu	37	1	47761455	47761455	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:47761455G>T	ENST00000360380.3	-	8	1130	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	STIL_ENST00000243182.6_Missense_Mutation_p.S256Y|STIL_ENST00000371877.3_Missense_Mutation_p.S256Y|STIL_ENST00000396221.2_Missense_Mutation_p.S256Y|STIL_ENST00000337817.5_Missense_Mutation_p.S256Y	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	256					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S256Y(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAATGGTAGAGAATAAACCTT	0.318																																					p.S256Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C767A	1						.						116.0	108.0	111.0					1																	47761455		2203	4298	6501	47534042	SO:0001583	missense	6491	exon7			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.767C>A	1.37:g.47761455G>T	ENSP00000353544:p.Ser256Tyr		47534042	NM_001048166	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804610	0.70682	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.77	5.77	0.91146	.	0.276465	0.40469	N	0.001093	T	0.65048	0.2654	M	0.61703	1.905	0.38761	D	0.954324	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.76071	0.972;0.987;0.972;0.974;0.974	T	0.69038	-0.5251	10	0.72032	D	0.01	-17.4944	13.2196	0.59879	0.0723:0.0:0.9277:0.0	.	256;209;256;256;256	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	Y	256;256;256;256;256;209	ENSP00000353544:S256Y;ENSP00000337367:S256Y;ENSP00000360944:S256Y;ENSP00000379523:S256Y;ENSP00000243182:S256Y;ENSP00000411664:S209Y	ENSP00000243182:S256Y	S	-	2	0	STIL	47534042	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.363000	0.52321	2.720000	0.93068	0.557000	0.71058	TCT		0.318	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
SLC5A9	200010	broad.mit.edu	37	1	48703430	48703430	+	Missense_Mutation	SNP	G	G	A	rs368141578		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:48703430G>A	ENST00000438567.2	+	11	1424	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	SLC5A9_ENST00000236495.5_Missense_Mutation_p.D483N|SLC5A9_ENST00000533824.1_Missense_Mutation_p.D479N	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	458					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D476N(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCAGCTCTTCGACTACATCCA	0.572																																					p.D483N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447A	1						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	169.0	132.0	145.0		1372,1447	5.0	1.0	1		145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC5A9	NM_001011547.2,NM_001135181.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	458/682,483/707	48703430	1,13005	2203	4300	6503	48476017	SO:0001583	missense	200010	exon12			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.1372G>A	1.37:g.48703430G>A	ENSP00000401730:p.Asp458Asn		48476017	NM_001135181	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	g	17.83	3.484662	0.63962	0.0	1.16E-4	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.88046	-2.33;-2.33;-2.33	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	L	0.46819	1.47	0.80722	D	1	B;B;B	0.28933	0.228;0.074;0.074	B;B;B	0.27608	0.081;0.032;0.052	T	0.80151	-0.1502	10	0.27785	T	0.31	.	17.5459	0.87861	0.0:0.0:1.0:0.0	.	479;458;483	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	N	479;458;483	ENSP00000431900:D479N;ENSP00000401730:D458N;ENSP00000236495:D483N	ENSP00000236495:D483N	D	+	1	0	SLC5A9	48476017	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	4.752000	0.62176	2.624000	0.88883	0.651000	0.88453	GAC		0.572	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	
SPATA6	54558	broad.mit.edu	37	1	48771466	48771466	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:48771466C>T	ENST00000371847.3	-	12	1443	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	SPATA6_ENST00000371843.3_Missense_Mutation_p.E411K|SPATA6_ENST00000396199.3_Missense_Mutation_p.E355K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	427					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E427K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TACCTATACTCGGGGTCACTG	0.318																																					p.E427K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1279A	1						.						175.0	191.0	185.0					1																	48771466		2203	4300	6503	48544053	SO:0001583	missense	54558	exon12			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1279G>A	1.37:g.48771466C>T	ENSP00000360913:p.Glu427Lys		48544053	NM_019073	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529376	0.64860	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.14022	2.54;2.66;2.56	4.55	4.55	0.56014	.	0.201069	0.41938	D	0.000783	T	0.21267	0.0512	L	0.34521	1.04	0.33708	D	0.615398	P;D;D	0.76494	0.584;0.995;0.999	B;D;D	0.76575	0.064;0.97;0.988	T	0.01966	-1.1238	10	0.07644	T	0.81	.	13.0003	0.58672	0.0:1.0:0.0:0.0	.	355;411;427	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	K	427;411;355	ENSP00000360913:E427K;ENSP00000360909:E411K;ENSP00000379502:E355K	ENSP00000360909:E411K	E	-	1	0	SPATA6	48544053	0.918000	0.31147	0.980000	0.43619	0.983000	0.72400	2.371000	0.44248	2.531000	0.85337	0.467000	0.42956	GAG		0.318	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073	
SPATA6	54558	broad.mit.edu	37	1	48865265	48865265	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:48865265G>T	ENST00000371847.3	-	7	702	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K	SPATA6_ENST00000371843.3_Missense_Mutation_p.Q180K|SPATA6_ENST00000396199.3_Missense_Mutation_p.Q108K|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.Q180K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTTCTGTTTTGCAGTCTGCCA	0.303																																					p.Q180K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538A	1						.						122.0	123.0	123.0					1																	48865265		2203	4300	6503	48637852	SO:0001583	missense	54558	exon7			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.538C>A	1.37:g.48865265G>T	ENSP00000360913:p.Gln180Lys		48637852	NM_019073	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	ENST00000371847.3	37	CCDS551.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.770229	0.49680	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	T;T;T;T	0.47869	2.73;2.73;2.73;0.83	5.04	5.04	0.67666	.	0.407810	0.25750	N	0.028546	T	0.40067	0.1102	L	0.43152	1.355	0.38623	D	0.951196	B;B;B;B	0.34329	0.082;0.449;0.058;0.017	B;B;B;B	0.28638	0.062;0.092;0.034;0.034	T	0.45190	-0.9278	10	0.48119	T	0.1	.	15.6993	0.77533	0.0:0.0:1.0:0.0	.	108;108;180;180	B4DX17;A8MU33;Q9NWH7-2;Q9NWH7	.;.;.;SPAT6_HUMAN	K	180;180;108;21	ENSP00000360913:Q180K;ENSP00000360909:Q180K;ENSP00000379502:Q108K;ENSP00000360907:Q21K	ENSP00000360907:Q21K	Q	-	1	0	SPATA6	48637852	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.118000	0.57884	2.611000	0.88343	0.555000	0.69702	CAA		0.303	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073	
BEND5	79656	broad.mit.edu	37	1	49224725	49224725	+	Missense_Mutation	SNP	G	G	A	rs201098567		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:49224725G>A	ENST00000371833.3	-	3	678	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	198						Golgi apparatus (GO:0005794)		p.R29C(2)		large_intestine(5)|lung(2)|skin(1)	8						TGGAGGTGGCGCATCTCTTCC	0.587																																					p.R198C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C592T	1						.	G	CYS/ARG,	0,4406		0,0,2203	98.0	92.0	94.0		592,	4.5	1.0	1		94	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	BEND5,AGBL4	NM_024603.2,NM_032785.3	180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	198/422,	49224725	1,13005	2203	4300	6503	48997312	SO:0001583	missense	79656	exon3			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.592C>T	1.37:g.49224725G>A	ENSP00000360899:p.Arg198Cys		48997312	NM_024603	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	CCDS552.2	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788076	0.70337	0.0	1.16E-4	ENSG00000162373	ENST00000371833	.	.	.	5.4	4.47	0.54385	.	0.048307	0.85682	D	0.000000	T	0.42040	0.1185	L	0.29908	0.895	0.58432	D	0.999996	D	0.69078	0.997	B	0.44315	0.446	T	0.24941	-1.0146	8	.	.	.	-20.9454	12.2606	0.54649	0.0:0.0:0.5714:0.4286	.	198	Q7L4P6	BEND5_HUMAN	C	198	.	.	R	-	1	0	BEND5	48997312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.206000	0.58473	1.376000	0.46267	0.655000	0.94253	CGC		0.587	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603	
EPS15	2060	broad.mit.edu	37	1	51864705	51864705	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:51864705G>A	ENST00000371733.3	-	20	2147	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	EPS15_ENST00000396122.4_Splice_Site_p.S361L|EPS15_ENST00000371730.2_Splice_Site_p.S550L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	684	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.S684L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CCCACTTACCGATGTAATACT	0.373			T	MLL	ALL																																p.S370L			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	thyroid(1)|large_intestine(1)|central_nervous_system(1)	c.C1109T	1						.						112.0	105.0	108.0					1																	51864705		2203	4300	6503	51637293	SO:0001630	splice_region_variant	2060	exon8			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2052+1C>T	1.37:g.51864705G>A			51637293	NM_001159969	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214472	0.39102	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.17213	2.29;2.29;2.29	5.34	2.43	0.29744	.	.	.	.	.	T	0.14399	0.0348	L	0.43152	1.355	0.36313	D	0.857757	B;B;B	0.22480	0.07;0.066;0.004	B;B;B	0.14578	0.011;0.009;0.004	T	0.08617	-1.0713	9	0.52906	T	0.07	.	9.389	0.38361	0.225:0.0:0.775:0.0	.	550;684;370	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	L	550;684;361	ENSP00000360795:S550L;ENSP00000360798:S684L;ENSP00000379428:S361L	ENSP00000360795:S550L	S	-	2	0	EPS15	51637293	0.681000	0.27614	0.995000	0.50966	0.848000	0.48234	1.640000	0.37186	0.646000	0.30693	0.491000	0.48974	TCG		0.373	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	Missense_Mutation
EPS15	2060	broad.mit.edu	37	1	51871633	51871633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:51871633C>A	ENST00000371733.3	-	16	1717	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000396122.4_Nonsense_Mutation_p.E218*|EPS15_ENST00000371730.2_Intron	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	541					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.E541*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TCAACATGTTCATTAAGGTTG	0.453			T	MLL	ALL																																p.E227X			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	.	3	Whole gene deletion(2)|Substitution - Nonsense(1)	thyroid(1)|large_intestine(1)|central_nervous_system(1)	c.G679T	1						.						215.0	182.0	193.0					1																	51871633		2203	4300	6503	51644221	SO:0001587	stop_gained	2060	exon4			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1621G>T	1.37:g.51871633C>A	ENSP00000360798:p.Glu541*		51644221	NM_001159969	B2R8J7|D3DPJ2|Q5SRH4	Nonsense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	38	7.070955	0.98044	.	.	ENSG00000085832	ENST00000371733;ENST00000396122	.	.	.	5.4	5.4	0.78164	.	0.000000	0.32852	N	0.005577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	.	.	.	X	541;218	.	ENSP00000360798:E541X	E	-	1	0	EPS15	51644221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.102000	0.64572	2.814000	0.96858	0.563000	0.77884	GAA		0.453	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
RAB3B	5865	broad.mit.edu	37	1	52442637	52442637	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52442637G>A	ENST00000371655.3	-	2	365	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	51					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.F51F(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						CGGTGCTAACGAAGGCTGGGG	0.517																																					p.F51F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	1						.						174.0	129.0	144.0					1																	52442637		2203	4300	6503	52215225	SO:0001819	synonymous_variant	5865	exon2			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.153C>T	1.37:g.52442637G>A			52215225	NM_002867	Q5VUL2|Q9BSI1	Silent	SNP	ENST00000371655.3	37	CCDS560.1																																																																																				0.517	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1	NM_002867	
TXNDC12	51060	broad.mit.edu	37	1	52490227	52490227	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52490227C>A	ENST00000371626.4	-	5	1384	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	TXNDC12_ENST00000471493.1_5'UTR	NM_015913.3	NP_056997.1	O95881	TXD12_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	104					cell redox homeostasis (GO:0045454)	endoplasmic reticulum (GO:0005783)	protein-disulfide reductase (glutathione) activity (GO:0019153)	p.D104Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7					Glutathione(DB00143)	GGGCTGAAATCTTCATCTTTG	0.428																																					p.D104Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310T	1						.						94.0	89.0	91.0					1																	52490227		2203	4300	6503	52262815	SO:0001583	missense	51060	exon5			AF131758	CCDS561.1	1p32.3	2011-10-19			ENSG00000117862	ENSG00000117862		"""Protein disulfide isomerases"""	24626	protein-coding gene	gene with protein product	"""endoplasmic reticulum thioredoxin superfamily member, 18 kDa"", ""anterior gradient homolog 1 (Xenopus laevis)"", ""protein disulfide isomerase family A, member 16"""	609448				8619474, 9110174	Standard	NM_015913		Approved	TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16	uc001cti.4	O95881	OTTHUMG00000008629	ENST00000371626.4:c.310G>T	1.37:g.52490227C>A	ENSP00000360688:p.Asp104Tyr		52262815	NM_015913	B3KQS0|Q5T1T4|Q96H50	Missense_Mutation	SNP	ENST00000371626.4	37	CCDS561.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676810	0.88445	.	.	ENSG00000117862	ENST00000371626	T	0.46451	0.87	5.66	5.66	0.87406	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.159786	0.56097	D	0.000037	T	0.53965	0.1829	L	0.34521	1.04	0.44825	D	0.99783	D	0.61080	0.989	D	0.64877	0.93	T	0.54702	-0.8254	10	0.66056	D	0.02	.	17.9364	0.89013	0.0:1.0:0.0:0.0	.	104	O95881	TXD12_HUMAN	Y	104	ENSP00000360688:D104Y	ENSP00000360688:D104Y	D	-	1	0	TXNDC12	52262815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.215000	0.72206	2.656000	0.90262	0.655000	0.94253	GAT		0.428	TXNDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023818.1	NM_015913	
ZFYVE9	9372	broad.mit.edu	37	1	52803472	52803472	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52803472G>T	ENST00000371591.1	+	15	3830	c.3699G>T	c.(3697-3699)gaG>gaT	p.E1233D	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E1233D|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E1174D	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1233					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.E1233D(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTACTGCAGAGAACATGGATT	0.517																																					p.E1174D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3522T	1						.						110.0	95.0	100.0					1																	52803472		2203	4300	6503	52576060	SO:0001583	missense	9372	exon15			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3699G>T	1.37:g.52803472G>T	ENSP00000360647:p.Glu1233Asp		52576060	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123326	0.56613	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.42900	1.02;0.96;0.96	5.54	4.56	0.56223	Domain of unknown function DUF3480 (1);	0.047735	0.85682	D	0.000000	T	0.43523	0.1251	N	0.22421	0.69	0.50467	D	0.999879	B;P	0.52061	0.233;0.95	B;P	0.61940	0.137;0.896	T	0.34551	-0.9824	10	0.87932	D	0	.	7.7054	0.28646	0.1273:0.1577:0.715:0.0	.	1174;1233	O95405-2;O95405	.;ZFYV9_HUMAN	D	1174;1233;1233	ENSP00000349737:E1174D;ENSP00000287727:E1233D;ENSP00000360647:E1233D	ENSP00000287727:E1233D	E	+	3	2	ZFYVE9	52576060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.590000	0.46154	2.890000	0.99128	0.650000	0.86243	GAG		0.517	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ZFYVE9	9372	broad.mit.edu	37	1	52810523	52810523	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52810523A>C	ENST00000371591.1	+	17	4154	c.4023A>C	c.(4021-4023)aaA>aaC	p.K1341N	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.K1341N|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.K1282N	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1341					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)	p.K1341N(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATGTTGCCAAAGCTTTTTGCC	0.448																																					p.K1282N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3846C	1						.						166.0	131.0	143.0					1																	52810523		2203	4300	6503	52583111	SO:0001583	missense	9372	exon17			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.4023A>C	1.37:g.52810523A>C	ENSP00000360647:p.Lys1341Asn		52583111	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.733177	0.69189	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.40756	1.09;1.02;1.02	5.16	3.06	0.35304	Domain of unknown function DUF3480 (1);	0.093882	0.64402	D	0.000001	T	0.51415	0.1673	L	0.54323	1.7	0.40126	D	0.976655	D;P	0.71674	0.998;0.605	D;P	0.66351	0.943;0.449	T	0.50964	-0.8765	10	0.45353	T	0.12	.	7.3022	0.26426	0.3191:0.0:0.6809:0.0	.	1282;1341	O95405-2;O95405	.;ZFYV9_HUMAN	N	1282;1341;1341	ENSP00000349737:K1282N;ENSP00000287727:K1341N;ENSP00000360647:K1341N	ENSP00000287727:K1341N	K	+	3	2	ZFYVE9	52583111	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.539000	0.23175	1.387000	0.46486	-0.177000	0.13119	AAA		0.448	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
ORC1	4998	broad.mit.edu	37	1	52854196	52854196	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52854196C>T	ENST00000371568.3	-	8	1519	c.1301G>A	c.(1300-1302)aGa>aAa	p.R434K	ORC1_ENST00000371566.1_Missense_Mutation_p.R434K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	434					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R434K(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGGGTGCTCTCCTTGGAAG	0.488																																					p.R434K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1301A	1						.						225.0	203.0	210.0					1																	52854196		2203	4300	6503	52626784	SO:0001583	missense	4998	exon8				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1301G>A	1.37:g.52854196C>T	ENSP00000360623:p.Arg434Lys		52626784	NM_001190818	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	4.608	0.113058	0.08831	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.39997	1.05;1.05	4.65	2.61	0.31194	.	0.545228	0.23181	N	0.051015	T	0.31606	0.0802	M	0.67953	2.075	0.09310	N	0.999999	B;B	0.16802	0.019;0.007	B;B	0.15052	0.012;0.006	T	0.27640	-1.0068	10	0.07030	T	0.85	-4.3134	5.0959	0.14733	0.0:0.6902:0.0:0.3098	.	434;434	B7Z8H0;Q13415	.;ORC1_HUMAN	K	434	ENSP00000360623:R434K;ENSP00000360621:R434K	ENSP00000360621:R434K	R	-	2	0	ORC1	52626784	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	0.435000	0.21510	1.201000	0.43203	0.591000	0.81541	AGA		0.488	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
ORC1	4998	broad.mit.edu	37	1	52859212	52859212	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52859212C>A	ENST00000371568.3	-	6	1203	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	ORC1_ENST00000371566.1_Missense_Mutation_p.D329Y	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	329					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D329Y(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTCTAATGTCTATGGTTTTC	0.458																																					p.D329Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985T	1						.						220.0	199.0	206.0					1																	52859212		2203	4300	6503	52631800	SO:0001583	missense	4998	exon6				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.985G>T	1.37:g.52859212C>A	ENSP00000360623:p.Asp329Tyr		52631800	NM_001190818	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160083	0.21454	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.40756	1.02;1.02	4.39	1.44	0.22558	.	1.287320	0.04758	N	0.425818	T	0.28499	0.0705	N	0.22421	0.69	0.09310	N	1	B;B	0.26147	0.143;0.003	B;B	0.18871	0.023;0.006	T	0.27123	-1.0083	10	0.62326	D	0.03	-0.4912	4.3491	0.11146	0.0:0.6121:0.1953:0.1926	.	329;329	B7Z8H0;Q13415	.;ORC1_HUMAN	Y	329	ENSP00000360623:D329Y;ENSP00000360621:D329Y	ENSP00000360621:D329Y	D	-	1	0	ORC1	52631800	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.153000	0.10144	0.338000	0.23692	0.655000	0.94253	GAC		0.458	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153	
PRPF38A	84950	broad.mit.edu	37	1	52874326	52874326	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52874326G>A	ENST00000257181.9	+	3	562	c.376G>A	c.(376-378)Gac>Aac	p.D126N	snoU13_ENST00000458879.1_RNA|PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	126					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D126N(1)		cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						TTTGTACAATGACTATCGAAA	0.428																																					p.D126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	1						.						98.0	90.0	93.0					1																	52874326		2203	4300	6503	52646914	SO:0001583	missense	84950	exon3			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.376G>A	1.37:g.52874326G>A	ENSP00000257181:p.Asp126Asn		52646914	NM_032864	Q96JW1|Q9BVZ8	Missense_Mutation	SNP	ENST00000257181.9	37	CCDS567.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700546	0.96802	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.37	5.37	0.77165	.	0.086786	0.85682	D	0.000000	D	0.89705	0.6792	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92493	0.6002	9	0.62326	D	0.03	-25.1196	19.1028	0.93281	0.0:0.0:1.0:0.0	.	126	Q8NAV1	PR38A_HUMAN	N	126	.	ENSP00000257181:D126N	D	+	1	0	PRPF38A	52646914	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	9.722000	0.98770	2.507000	0.84556	0.557000	0.71058	GAC		0.428	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864	
ZCCHC11	23318	broad.mit.edu	37	1	52943434	52943434	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52943434C>A	ENST00000371544.3	-	12	2231	c.1969G>T	c.(1969-1971)Gat>Tat	p.D657Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D657Y|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	657	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.D657Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GTTAAAATATCTTGTATCCGT	0.353																																					p.D657Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1969T	1						.						106.0	108.0	107.0					1																	52943434		2203	4300	6503	52716022	SO:0001583	missense	23318	exon12			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1969G>T	1.37:g.52943434C>A	ENSP00000360599:p.Asp657Tyr		52716022	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070409	0.93950	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.72	5.72	0.89469	PAP/25A-associated (1);	0.160682	0.56097	D	0.000037	T	0.80127	0.4566	N	0.19112	0.55	0.80722	D	1	D;D;D	0.63880	0.98;0.993;0.991	P;P;P	0.61070	0.752;0.854;0.883	T	0.82248	-0.0551	10	0.62326	D	0.03	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	416;657;657	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	Y	657;657;586;416	ENSP00000257177:D657Y;ENSP00000360599:D657Y;ENSP00000433486:D586Y;ENSP00000435256:D416Y	ENSP00000257177:D657Y	D	-	1	0	ZCCHC11	52716022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.291000	0.78721	2.695000	0.91970	0.650000	0.86243	GAT		0.353	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
CPT2	1376	broad.mit.edu	37	1	53676514	53676514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:53676514G>T	ENST00000371486.3	+	4	1683	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	390					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.D390Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTATTTAAAGACAGCACTCA	0.502																																					p.D390Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168T	1						.						44.0	42.0	43.0					1																	53676514		2203	4300	6503	53449102	SO:0001583	missense	1376	exon4			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.1168G>T	1.37:g.53676514G>T	ENSP00000360541:p.Asp390Tyr		53449102	NM_000098	B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	ENST00000371486.3	37	CCDS575.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198650	0.79015	.	.	ENSG00000157184	ENST00000371486	D	0.89415	-2.51	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92181	0.5751	10	0.32370	T	0.25	-9.2321	20.4777	0.99188	0.0:0.0:1.0:0.0	.	390	P23786	CPT2_HUMAN	Y	390	ENSP00000360541:D390Y	ENSP00000360541:D390Y	D	+	1	0	CPT2	53449102	1.000000	0.71417	0.996000	0.52242	0.779000	0.44077	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAC		0.502	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024757.1	NM_000098	
LRP8	7804	broad.mit.edu	37	1	53716481	53716481	+	Missense_Mutation	SNP	G	G	A	rs147172505		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:53716481G>A	ENST00000306052.6	-	17	2658	c.2557C>T	c.(2557-2559)Cgg>Tgg	p.R853W	LRP8_ENST00000354412.3_Missense_Mutation_p.R649W|LRP8_ENST00000465675.1_Missense_Mutation_p.R406W|LRP8_ENST00000371454.2_Missense_Mutation_p.R853W|LRP8_ENST00000347547.2_Missense_Mutation_p.R683W	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	853					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.R853W(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGTTCTTCCGCTTCCAGTTT	0.493																																					p.R649W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1945T	1						.						253.0	215.0	228.0					1																	53716481		2203	4300	6503	53489069	SO:0001583	missense	7804	exon15			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2557C>T	1.37:g.53716481G>A	ENSP00000303634:p.Arg853Trp		53489069	NM_017522	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504843	0.85176	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.42	4.42	0.53409	.	.	.	.	.	T	0.45115	0.1326	M	0.65975	2.015	0.50632	D	0.999888	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;0.999	P;D;D;P;D;P	0.74674	0.884;0.984;0.963;0.9;0.959;0.884	T	0.44375	-0.9332	9	0.66056	D	0.02	.	16.8378	0.85961	0.0:0.0:0.8627:0.1373	.	406;649;683;853;853;406	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	W	853;853;406;649;683	ENSP00000303634:R853W;ENSP00000360509:R853W;ENSP00000437009:R406W;ENSP00000346391:R649W;ENSP00000334522:R683W	ENSP00000303634:R853W	R	-	1	2	LRP8	53489069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.983000	0.56916	2.528000	0.85240	0.563000	0.77884	CGG		0.493	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631	
GLIS1	148979	broad.mit.edu	37	1	54059912	54059912	+	Missense_Mutation	SNP	C	C	T	rs539985102		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54059912C>T	ENST00000312233.2	-	3	1230	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.D222N(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TTGCGCTGGTCGATGTGGCTC	0.657																																					p.D222N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	1						.						90.0	67.0	75.0					1																	54059912		2203	4300	6503	53832500	SO:0001583	missense	148979	exon3			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.664G>A	1.37:g.54059912C>T	ENSP00000309653:p.Asp222Asn		53832500	NM_147193		Missense_Mutation	SNP	ENST00000312233.2	37	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626807	0.96671	.	.	ENSG00000174332	ENST00000312233	D	0.88664	-2.41	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000020	D	0.88209	0.6375	L	0.53561	1.675	0.80722	D	1	P	0.52692	0.955	B	0.44044	0.439	D	0.87510	0.2439	10	0.35671	T	0.21	.	19.1215	0.93365	0.0:1.0:0.0:0.0	.	222	Q8NBF1	GLIS1_HUMAN	N	222	ENSP00000309653:D222N	ENSP00000309653:D222N	D	-	1	0	GLIS1	53832500	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.818000	0.86416	2.606000	0.88127	0.563000	0.77884	GAC		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	
NDC1	55706	broad.mit.edu	37	1	54258947	54258947	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54258947C>A	ENST00000371429.3	-	14	2188	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	NDC1_ENST00000537333.1_Missense_Mutation_p.K195N|NDC1_ENST00000234725.8_Missense_Mutation_p.K415N|NDC1_ENST00000540001.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	530					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.K530N(1)									ACAAGAAATTCTTAATCTGAG	0.318																																					p.K530N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1590T	1						.						100.0	106.0	104.0					1																	54258947		2203	4300	6503	54031535	SO:0001583	missense	55706	exon14			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1590G>T	1.37:g.54258947C>A	ENSP00000360483:p.Lys530Asn		54031535	NM_018087	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130341	0.56721	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.45668	0.89;0.89;0.89	4.69	4.69	0.59074	.	0.043135	0.85682	D	0.000000	T	0.50429	0.1615	M	0.64997	1.995	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.62435	0.902;0.88	T	0.45512	-0.9256	10	0.19147	T	0.46	.	6.2253	0.20703	0.0:0.7748:0.0:0.2252	.	490;530	B4DHA3;Q9BTX1	.;NDC1_HUMAN	N	530;413;195;415	ENSP00000360483:K530N;ENSP00000439947:K195N;ENSP00000234725:K415N	ENSP00000234725:K415N	K	-	3	2	TMEM48	54031535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.207000	0.51106	2.598000	0.87819	0.563000	0.77884	AAG		0.318	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087	
YIPF1	54432	broad.mit.edu	37	1	54325753	54325753	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54325753G>A	ENST00000072644.1	-	10	1241	c.905C>T	c.(904-906)gCa>gTa	p.A302V	YIPF1_ENST00000371399.1_Missense_Mutation_p.A119V|YIPF1_ENST00000539954.1_Missense_Mutation_p.A327V	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	302						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.A302V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GGACTTGGCTGCAGCAACTGT	0.438																																					p.A302V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C905T	1						.						117.0	106.0	109.0					1																	54325753		2203	4300	6503	54098341	SO:0001583	missense	54432	exon10			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.905C>T	1.37:g.54325753G>A	ENSP00000072644:p.Ala302Val		54098341	NM_018982	B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	CCDS584.1	.	.	.	.	.	.	.	.	.	.	G	5.363	0.252155	0.10185	.	.	ENSG00000058799	ENST00000371399;ENST00000072644;ENST00000539954	.	.	.	5.17	2.25	0.28309	.	0.802333	0.11657	N	0.542228	T	0.28234	0.0697	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.21245	-1.0251	9	0.19590	T	0.45	-16.9335	8.6839	0.34225	0.3225:0.0:0.6775:0.0	.	302	Q9Y548	YIPF1_HUMAN	V	119;302;327	.	ENSP00000072644:A302V	A	-	2	0	YIPF1	54098341	0.538000	0.26394	0.835000	0.33067	0.567000	0.35839	0.708000	0.25719	0.763000	0.33175	0.655000	0.94253	GCA		0.438	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982	
YIPF1	54432	broad.mit.edu	37	1	54348920	54348920	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54348920C>T	ENST00000072644.1	-	4	397	c.61G>A	c.(61-63)Gca>Aca	p.A21T	YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.A46T|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	21						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.A21T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TCTGGGTTTGCTGTCAGAGAA	0.448																																					p.A21T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	1						.						84.0	76.0	78.0					1																	54348920		2203	4300	6503	54121508	SO:0001583	missense	54432	exon4			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.61G>A	1.37:g.54348920C>T	ENSP00000072644:p.Ala21Thr		54121508	NM_018982	B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	ENST00000072644.1	37	CCDS584.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624020	0.28889	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	4.75	4.75	0.60458	.	0.315788	0.33364	N	0.004990	T	0.58793	0.2147	L	0.55481	1.735	0.35909	D	0.83098	B	0.09022	0.002	B	0.09377	0.004	T	0.61893	-0.6969	9	0.31617	T	0.26	-0.2231	17.5527	0.87881	0.0:1.0:0.0:0.0	.	21	Q9Y548	YIPF1_HUMAN	T	21;46;21	.	ENSP00000072644:A21T	A	-	1	0	YIPF1	54121508	1.000000	0.71417	0.972000	0.41901	0.226000	0.24999	2.574000	0.46016	2.463000	0.83235	0.467000	0.42956	GCA		0.448	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982	
DIO1	1733	broad.mit.edu	37	1	54360096	54360096	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54360096C>A	ENST00000361921.3	+	1	237	c.213C>A	c.(211-213)ttC>ttA	p.F71L	DIO1_ENST00000532493.1_Missense_Mutation_p.F71L|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000322679.6_Missense_Mutation_p.F71L|DIO1_ENST00000388876.3_Missense_Mutation_p.F71L|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	71					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)	p.F71L(2)		cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CCCAGTATTTCTGGTTCGTCT	0.577																																					p.F71L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C213A	1						.						135.0	107.0	116.0					1																	54360096		2203	4300	6503	54132684	SO:0001583	missense	1733	exon1				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.213C>A	1.37:g.54360096C>A	ENSP00000354643:p.Phe71Leu		54132684	NM_001039716	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367542	0.61513	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.79	1.92	0.25849	.	0.212284	0.42294	D	0.000733	T	0.09905	0.0243	N	0.25485	0.75	0.30003	N	0.815864	B;B;B	0.27625	0.05;0.061;0.183	B;B;B	0.20955	0.032;0.032;0.032	T	0.13737	-1.0498	10	0.27082	T	0.32	.	1.2134	0.01909	0.1462:0.4279:0.1618:0.2642	.	71;71;71	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	L	28;71;71;71;71	ENSP00000432797:F28L;ENSP00000354643:F71L;ENSP00000323198:F71L;ENSP00000434758:F71L;ENSP00000373528:F71L	ENSP00000323198:F71L	F	+	3	2	DIO1	54132684	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	0.502000	0.22594	0.246000	0.21394	0.561000	0.74099	TTC		0.577	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3		
CDCP2	200008	broad.mit.edu	37	1	54606953	54606953	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54606953C>A	ENST00000371330.1	-	3	1428	c.581G>T	c.(580-582)gGc>gTc	p.G194V	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	194	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G194V(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTCTTCATTGCCCTCCACCTG	0.642																																					p.G194V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581T	1						.						75.0	68.0	71.0					1																	54606953		2203	4300	6503	54379541	SO:0001583	missense	200008	exon3				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.581G>T	1.37:g.54606953C>A	ENSP00000360381:p.Gly194Val		54379541	NM_201546	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.142059	0.57044	.	.	ENSG00000157211	ENST00000371330	T	0.18174	2.23	5.04	1.96	0.26148	CUB (5);	0.260219	0.39146	N	0.001456	T	0.20129	0.0484	L	0.45422	1.42	0.33409	D	0.578366	P	0.50710	0.938	P	0.50314	0.637	T	0.22871	-1.0204	10	0.56958	D	0.05	-15.543	9.1527	0.36973	0.0:0.4912:0.4311:0.0777	.	194	Q5VXM1	CDCP2_HUMAN	V	194	ENSP00000360381:G194V	ENSP00000360381:G194V	G	-	2	0	CDCP2	54379541	1.000000	0.71417	0.913000	0.36048	0.882000	0.50991	1.891000	0.39738	0.243000	0.21327	0.561000	0.74099	GGC		0.642	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	
CYB5RL	606495	broad.mit.edu	37	1	54644918	54644918	+	Silent	SNP	G	G	A	rs373797088	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:54644918G>A	ENST00000534324.1	-	5	647	c.648C>T	c.(646-648)gtC>gtT	p.V216V	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.V216V|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000401046.3_Silent_p.V68V|CYB5RL_ENST00000419823.2_Silent_p.V216V			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	216							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.V216V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TGAAGCAACCGACCAGAGTGA	0.542													g|||	16	0.00319489	0.0008	0.0	5008	,	,		21923	0.0		0.0	False		,,,				2504	0.0153				p.V216V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	1						.	A		1,3987		0,1,1993	68.0	73.0	71.0		648	-5.8	0.3	1		71	0,8332		0,0,4166	no	coding-synonymous	CYB5RL	NM_001031672.2		0,1,6159	AA,AG,GG		0.0,0.0251,0.0081		216/316	54644918	1,12319	1994	4166	6160	54417506	SO:0001819	synonymous_variant	606495	exon7				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.648C>T	1.37:g.54644918G>A			54417506	NM_001031672	B7ZBS4|Q8NF25	Silent	SNP	ENST00000534324.1	37	CCDS44151.1																																																																																				0.542	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672	
MROH7	374977	broad.mit.edu	37	1	55119306	55119306	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:55119306C>A	ENST00000421030.2	+	3	992	c.707C>A	c.(706-708)tCt>tAt	p.S236Y	MROH7_ENST00000395690.2_Missense_Mutation_p.S236Y|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S236Y|MROH7_ENST00000339553.5_Missense_Mutation_p.S236Y	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	236						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S236Y(2)									GCTCCAGATTCTCATGGGACC	0.458																																					p.S236Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C707A	1						.						60.0	56.0	57.0					1																	55119306		1926	4133	6059	54891894	SO:0001583	missense	374977	exon3			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.707C>A	1.37:g.55119306C>A	ENSP00000396622:p.Ser236Tyr		54891894	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738318	0.30774	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.05319	3.46;3.46;3.46	2.95	1.96	0.26148	.	.	.	.	.	T	0.09642	0.0237	N	0.19112	0.55	0.09310	N	1	P;P;D	0.76494	0.946;0.946;0.999	P;P;P	0.61003	0.654;0.528;0.882	T	0.25916	-1.0118	9	0.87932	D	0	.	7.5704	0.27904	0.0:0.7334:0.2666:0.0	.	236;236;236	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	Y	236	ENSP00000396622:S236Y;ENSP00000343211:S236Y;ENSP00000379044:S236Y	ENSP00000343211:S236Y	S	+	2	0	HEATR8	54891894	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	1.195000	0.32186	0.751000	0.32900	0.655000	0.94253	TCT		0.458	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
MROH7	374977	broad.mit.edu	37	1	55172145	55172145	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:55172145G>C	ENST00000421030.2	+	22	3887	c.3602G>C	c.(3601-3603)aGc>aCc	p.S1201T	MROH7_ENST00000454855.2_Missense_Mutation_p.S719T|MROH7_ENST00000409996.1_Missense_Mutation_p.S769T|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S1201T	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1201						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S1198T(1)|p.S1201T(1)									ATATTCCTCAGCCAGAGCCTG	0.552																																					p.S1201T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3602C	1						.						121.0	125.0	124.0					1																	55172145		1940	4147	6087	54944733	SO:0001583	missense	374977	exon22			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3602G>C	1.37:g.55172145G>C	ENSP00000396622:p.Ser1201Thr		54944733	NM_001039464	A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096246	0.20552	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.32988	1.43;1.44;1.44;1.44	5.01	1.92	0.25849	Armadillo-like helical (1);Armadillo-type fold (1);	0.367287	0.26421	N	0.024462	T	0.18964	0.0455	L	0.41492	1.28	0.23010	N	0.998432	B;B	0.23937	0.094;0.009	B;B	0.19946	0.027;0.007	T	0.15607	-1.0431	10	0.18710	T	0.47	-4.0294	5.1067	0.14787	0.1821:0.1886:0.6293:0.0	.	1201;1200	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	T	1201;1230;769;719;270	ENSP00000396622:S1201T;ENSP00000387048:S769T;ENSP00000401130:S719T;ENSP00000360336:S270T	ENSP00000360336:S270T	S	+	2	0	HEATR8	54944733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.962000	0.29280	0.687000	0.31509	0.585000	0.79938	AGC		0.552	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
C1orf177	163747	broad.mit.edu	37	1	55277748	55277748	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:55277748C>A	ENST00000371273.3	+	6	663	c.648C>A	c.(646-648)ttC>ttA	p.F216L	C1orf177_ENST00000358193.3_Missense_Mutation_p.F216L	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	216								p.F216L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GCACCTACTTCTTCAAAAGCG	0.612																																					p.F216L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C648A	1						.						99.0	105.0	103.0					1																	55277748		2203	4300	6503	55050336	SO:0001583	missense	163747	exon6			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.648C>A	1.37:g.55277748C>A	ENSP00000360320:p.Phe216Leu		55050336	NM_001110533	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	C	7.169	0.587296	0.13812	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.19806	2.12;2.12	5.06	1.86	0.25419	.	1.998580	0.02089	N	0.052996	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20438	-1.0275	10	0.36615	T	0.2	-7.5219	3.1041	0.06336	0.1814:0.5452:0.1759:0.0975	.	216;216	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	L	216	ENSP00000350924:F216L;ENSP00000360320:F216L	ENSP00000350924:F216L	F	+	3	2	C1orf177	55050336	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	0.007000	0.13174	0.487000	0.27698	0.462000	0.41574	TTC		0.612	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
C1orf177	163747	broad.mit.edu	37	1	55279584	55279584	+	Missense_Mutation	SNP	G	G	A	rs368171733		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:55279584G>A	ENST00000371273.3	+	7	875	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	C1orf177_ENST00000358193.3_Missense_Mutation_p.R287Q	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	287								p.R287Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAACTTCCCCGAAACCCGAAA	0.483																																					p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	1						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	89.0	87.0		860,860	5.0	0.1	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1orf177	NM_001110533.1,NM_152607.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	287/419,287/415	55279584	1,13005	2203	4300	6503	55052172	SO:0001583	missense	163747	exon7			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.860G>A	1.37:g.55279584G>A	ENSP00000360320:p.Arg287Gln		55052172	NM_001110533	B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	CCDS44153.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969094	0.34754	0.0	1.16E-4	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.27402	1.67;1.67	4.98	4.98	0.66077	.	0.091434	0.48286	D	0.000182	T	0.44561	0.1299	L	0.43152	1.355	0.22562	N	0.998985	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.26326	-1.0106	10	0.21014	T	0.42	.	13.6147	0.62101	0.0:0.0:1.0:0.0	.	287;287	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	Q	287	ENSP00000350924:R287Q;ENSP00000360320:R287Q	ENSP00000350924:R287Q	R	+	2	0	C1orf177	55052172	0.730000	0.28100	0.081000	0.20488	0.065000	0.16274	2.548000	0.45794	2.588000	0.87417	0.561000	0.74099	CGA		0.483	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607	
USP24	23358	broad.mit.edu	37	1	55586426	55586426	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:55586426G>A	ENST00000294383.6	-	38	4350	c.4351C>T	c.(4351-4353)Cgc>Tgc	p.R1451C	USP24_ENST00000407756.1_Missense_Mutation_p.R1291C	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1451					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R1451C(1)|p.R1368C(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCAACCCGGCGAATCTGAAAT	0.433																																					p.R1451C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4351T	1						.						34.0	31.0	32.0					1																	55586426		1989	4185	6174	55359014	SO:0001583	missense	23358	exon38			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4351C>T	1.37:g.55586426G>A	ENSP00000294383:p.Arg1451Cys		55359014	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889355	0.91889	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.72615	-0.67;-0.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.84563	0.0651	10	0.87932	D	0	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	1291	B7WPF4	.	C	1451;1291	ENSP00000294383:R1451C;ENSP00000385700:R1291C	ENSP00000294383:R1451C	R	-	1	0	USP24	55359014	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.456000	0.83038	0.563000	0.77884	CGC		0.433	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PRKAA2	5563	broad.mit.edu	37	1	57158129	57158129	+	Silent	SNP	G	G	A	rs201580595		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57158129G>A	ENST00000371244.4	+	4	495	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E143E(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TGAAACCAGAGAATGTCCTGT	0.453																																					p.E143E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G429A	1						.						182.0	171.0	175.0					1																	57158129		2203	4300	6503	56930717	SO:0001819	synonymous_variant	5563	exon4			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.429G>A	1.37:g.57158129G>A			56930717	NM_006252	Q9H1E8|Q9UD43	Silent	SNP	ENST00000371244.4	37	CCDS605.1																																																																																				0.453	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
PRKAA2	5563	broad.mit.edu	37	1	57170075	57170075	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57170075G>A	ENST00000371244.4	+	7	1286	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	407			R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R407Q(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CTTGGAATCCGAAGTCAGAGC	0.413																																					p.R407Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1220A	1						.						87.0	89.0	88.0					1																	57170075		2203	4300	6503	56942663	SO:0001583	missense	5563	exon7			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1220G>A	1.37:g.57170075G>A	ENSP00000360290:p.Arg407Gln		56942663	NM_006252	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152140	0.78001	.	.	ENSG00000162409	ENST00000371244	T	0.80909	-1.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81629	-0.0846	10	0.14656	T	0.56	-11.3992	20.8794	0.99867	0.0:0.0:1.0:0.0	.	407	P54646	AAPK2_HUMAN	Q	407	ENSP00000360290:R407Q	ENSP00000360290:R407Q	R	+	2	0	PRKAA2	56942663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGA		0.413	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
PRKAA2	5563	broad.mit.edu	37	1	57171786	57171786	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57171786C>T	ENST00000371244.4	+	8	1381	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	439					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R439C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATACCATCTTCGTGTAAGAAG	0.294																																					p.R439C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1315T	1						.						81.0	76.0	78.0					1																	57171786		2203	4300	6503	56944374	SO:0001583	missense	5563	exon8			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1315C>T	1.37:g.57171786C>T	ENSP00000360290:p.Arg439Cys		56944374	NM_006252	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640336	0.67244	.	.	ENSG00000162409	ENST00000371244	T	0.75477	-0.94	5.27	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.89536	0.3789	10	0.87932	D	0	-17.1395	16.166	0.81757	0.1883:0.8117:0.0:0.0	.	439	P54646	AAPK2_HUMAN	C	439	ENSP00000360290:R439C	ENSP00000360290:R439C	R	+	1	0	PRKAA2	56944374	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.066000	0.30604	2.626000	0.88956	0.462000	0.41574	CGT		0.294	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
C1orf168	199920	broad.mit.edu	37	1	57258431	57258431	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57258431G>T	ENST00000343433.6	-	2	135	c.55C>A	c.(55-57)Ctt>Att	p.L19I	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	19								p.L19I(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGCATCAAGATTTTGAAAT	0.393																																					p.L19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55A	1						.						141.0	148.0	145.0					1																	57258431		2203	4300	6503	57031019	SO:0001583	missense	199920	exon2			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.55C>A	1.37:g.57258431G>T	ENSP00000345972:p.Leu19Ile		57031019	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039504	0.75617	.	.	ENSG00000187889	ENST00000343433	T	0.31769	1.48	4.65	-3.66	0.04489	.	1.125910	0.06777	N	0.784623	T	0.19127	0.0459	L	0.27053	0.805	0.09310	N	1	P;P	0.46142	0.793;0.873	B;B	0.42738	0.396;0.306	T	0.22382	-1.0218	10	0.31617	T	0.26	0.0018	5.0373	0.14441	0.394:0.2719:0.3341:0.0	.	19;19	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	I	19	ENSP00000345972:L19I	ENSP00000345972:L19I	L	-	1	0	C1orf168	57031019	0.000000	0.05858	0.000000	0.03702	0.836000	0.47400	-0.237000	0.08990	-0.427000	0.07350	0.563000	0.77884	CTT		0.393	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
C8A	731	broad.mit.edu	37	1	57347262	57347262	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57347262G>T	ENST00000361249.3	+	5	705	c.609G>T	c.(607-609)gaG>gaT	p.E203D		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	203	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.E203D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGATGATGAGAAATACTTTC	0.488																																					p.E203D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G609T	1						.						125.0	127.0	126.0					1																	57347262		2203	4300	6503	57119850	SO:0001583	missense	731	exon5			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.609G>T	1.37:g.57347262G>T	ENSP00000354458:p.Glu203Asp		57119850	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821611	0.50633	.	.	ENSG00000157131	ENST00000361249	D	0.86497	-2.13	5.56	-2.36	0.06663	Membrane attack complex component/perforin (MACPF) domain (1);	0.093821	0.64402	N	0.000001	T	0.71821	0.3385	L	0.42487	1.325	0.53688	D	0.999977	P	0.39157	0.662	B	0.31290	0.127	T	0.58951	-0.7545	10	0.33141	T	0.24	-18.2046	1.82	0.03109	0.2328:0.2209:0.4194:0.127	.	203	P07357	CO8A_HUMAN	D	203	ENSP00000354458:E203D	ENSP00000354458:E203D	E	+	3	2	C8A	57119850	0.998000	0.40836	0.980000	0.43619	0.953000	0.61014	0.455000	0.21843	-0.097000	0.12307	0.655000	0.94253	GAG		0.488	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
C8B	732	broad.mit.edu	37	1	57399055	57399055	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57399055G>A	ENST00000371237.4	-	10	1571	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	C8B_ENST00000543257.1_Missense_Mutation_p.S450F|C8B_ENST00000535057.1_Missense_Mutation_p.S440F	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	502	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.S502F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGTGGCAGGAACTAACTTC	0.522																																					p.S502F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	1						.						93.0	80.0	84.0					1																	57399055		2203	4300	6503	57171643	SO:0001583	missense	732	exon10			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1505C>T	1.37:g.57399055G>A	ENSP00000360281:p.Ser502Phe		57171643	NM_000066	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451552	0.63290	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.27720	1.82;1.84;1.65	5.07	4.15	0.48705	Membrane attack complex component/perforin (MACPF) domain (1);	0.405216	0.29799	N	0.011164	T	0.44456	0.1294	M	0.76574	2.34	0.53005	D	0.999962	D;D;D	0.63880	0.993;0.993;0.989	P;P;P	0.59487	0.804;0.858;0.726	T	0.26503	-1.0101	10	0.10111	T	0.7	-4.7028	10.8175	0.46585	0.0748:0.1349:0.7902:0.0	.	450;440;502	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	F	502;450;440	ENSP00000360281:S502F;ENSP00000442548:S450F;ENSP00000440113:S440F	ENSP00000360281:S502F	S	-	2	0	C8B	57171643	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.992000	0.56980	2.802000	0.96397	0.650000	0.86243	TCC		0.522	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
DAB1	1600	broad.mit.edu	37	1	57480581	57480581	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:57480581A>C	ENST00000371231.1	-	13	1552	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	DAB1_ENST00000439789.2_Silent_p.T387T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.T473T|DAB1_ENST00000371236.2_Silent_p.T473T|DAB1_ENST00000414851.2_Silent_p.T455T|DAB1_ENST00000420954.2_Silent_p.T471T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	506					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.T473T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGTGGTAGAAGTCACAGGGG	0.507																																					p.T473T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1419G	1						.						89.0	82.0	84.0					1																	57480581		2203	4300	6503	57253169	SO:0001819	synonymous_variant	1600	exon14			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1518T>G	1.37:g.57480581A>C			57253169	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37																																																																																					0.507	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
OMA1	115209	broad.mit.edu	37	1	58999994	58999994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:58999994C>A	ENST00000371226.3	-	4	852	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Nonsense_Mutation_p.E247*	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCAC	0.323																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	1						.						44.0	44.0	44.0					1																	58999994		2203	4300	6503	58772582	SO:0001587	stop_gained	115209	exon4			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.739G>T	1.37:g.58999994C>A	ENSP00000360270:p.Glu247*		58772582	NM_145243	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	ENST00000371226.3	37	CCDS608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.887603|2.887603	0.52014|0.52014	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139|ENST00000421528	.|.	.|.	.|.	4.66|4.66	3.72|3.72	0.42706|0.42706	.|.	0.168662|.	0.50627|.	D|.	0.000115|.	.|T	.|0.59432	.|0.2193	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56583	.|-0.7955	.|4	0.40728|.	T|.	0.16|.	-14.4456|-14.4456	9.5703|9.5703	0.39425|0.39425	0.0:0.6529:0.2708:0.0763|0.0:0.6529:0.2708:0.0763	.|.	.|.	.|.	.|.	X|I	247|88	.|.	ENSP00000351417:E247X|.	E|R	-|-	1|2	0|0	OMA1|OMA1	58772582|58772582	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	0.762000|0.762000	0.26503|0.26503	1.268000|1.268000	0.44264|0.44264	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.323	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243	
MYSM1	114803	broad.mit.edu	37	1	59142610	59142610	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:59142610T>G	ENST00000472487.1	-	9	1417	c.1378A>C	c.(1378-1380)Aat>Cat	p.N460H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	460	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N460H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CATCCAAAATTGATTGCTCCT	0.343																																					p.N460H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1378C	1						.						135.0	127.0	130.0					1																	59142610		1840	4087	5927	58915198	SO:0001583	missense	114803	exon9			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1378A>C	1.37:g.59142610T>G	ENSP00000418734:p.Asn460His		58915198	NM_001085487	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352510	0.82132	.	.	ENSG00000162601	ENST00000472487	T	0.61742	0.08	5.16	5.16	0.70880	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.92317	3.295	0.52501	D	0.999958	D	0.71674	0.998	D	0.75484	0.986	D	0.85800	0.1373	10	0.87932	D	0	-25.081	14.3206	0.66484	0.0:0.0:0.0:1.0	.	460	Q5VVJ2	MYSM1_HUMAN	H	460	ENSP00000418734:N460H	ENSP00000418734:N460H	N	-	1	0	MYSM1	58915198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.153000	0.67306	0.477000	0.44152	AAT		0.343	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
MYSM1	114803	broad.mit.edu	37	1	59165712	59165712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:59165712C>A	ENST00000472487.1	-	1	52	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	5					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E5*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACATCCGCCTCTTCAGCCGCC	0.692																																					p.E5X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G13T	1						.						29.0	37.0	35.0					1																	59165712		1920	4121	6041	58938300	SO:0001587	stop_gained	114803	exon1			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.13G>T	1.37:g.59165712C>A	ENSP00000418734:p.Glu5*		58938300	NM_001085487	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Nonsense_Mutation	SNP	ENST00000472487.1	37	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207071	0.97376	.	.	ENSG00000162601	ENST00000472487	.	.	.	4.66	4.66	0.58398	.	0.192351	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.8458	13.234	0.59958	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000418734:E5X	E	-	1	0	MYSM1	58938300	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	3.926000	0.56491	2.560000	0.86352	0.655000	0.94253	GAG		0.692	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481	
C1orf87	127795	broad.mit.edu	37	1	60456397	60456397	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:60456397G>A	ENST00000371201.3	-	12	1696	c.1589C>T	c.(1588-1590)tCg>tTg	p.S530L	C1orf87_ENST00000450089.2_Missense_Mutation_p.S301L|C1orf87_ENST00000395552.1_Missense_Mutation_p.S164L|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	530							calcium ion binding (GO:0005509)	p.S530L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATTTTCTCCCGAACGGAATCT	0.473																																					p.S530L	NSCLC(75;811 1386 4923 13371 51772)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1589T	1						.						215.0	215.0	215.0					1																	60456397		2203	4300	6503	60228985	SO:0001583	missense	127795	exon12			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1589C>T	1.37:g.60456397G>A	ENSP00000360244:p.Ser530Leu		60228985	NM_152377	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	4.683	0.126918	0.08931	.	.	ENSG00000162598	ENST00000371201;ENST00000395552	T;T	0.33438	2.16;1.41	4.62	-2.0	0.07433	.	0.994157	0.08157	N	0.989107	T	0.13628	0.0330	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	10	0.27785	T	0.31	-0.2884	8.339	0.32232	0.3012:0.1103:0.5885:0.0	.	530	Q8N0U7	CA087_HUMAN	L	530;164	ENSP00000360244:S530L;ENSP00000378921:S164L	ENSP00000360244:S530L	S	-	2	0	C1orf87	60228985	0.000000	0.05858	0.002000	0.10522	0.466000	0.32739	-0.160000	0.10041	-0.039000	0.13602	-1.305000	0.01319	TCG		0.473	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
C1orf87	127795	broad.mit.edu	37	1	60466811	60466811	+	Missense_Mutation	SNP	C	C	A	rs61742748	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:60466811C>A	ENST00000371201.3	-	10	1317	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	C1orf87_ENST00000450089.2_Missense_Mutation_p.A175S|C1orf87_ENST00000395552.1_Missense_Mutation_p.A38S|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	404							calcium ion binding (GO:0005509)	p.A404S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGGCAGGGGCTTTCTTTTCA	0.418																																					p.A404S	NSCLC(75;811 1386 4923 13371 51772)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210T	1						.						66.0	62.0	64.0					1																	60466811		2203	4300	6503	60239399	SO:0001583	missense	127795	exon10			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1210G>T	1.37:g.60466811C>A	ENSP00000360244:p.Ala404Ser		60239399	NM_152377	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	8.079	0.771947	0.16051	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	T;T	0.31247	2.35;1.5	4.71	-0.0919	0.13658	.	1.137610	0.06639	N	0.760665	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.28650	-1.0037	10	0.29301	T	0.29	0.0774	0.6783	0.00870	0.4038:0.2349:0.2017:0.1596	.	404	Q8N0U7	CA087_HUMAN	S	404;38;175	ENSP00000360244:A404S;ENSP00000378921:A38S	ENSP00000360244:A404S	A	-	1	0	C1orf87	60239399	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	0.085000	0.14912	-0.104000	0.12154	0.655000	0.94253	GCC		0.418	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
NFIA	4774	broad.mit.edu	37	1	61554140	61554140	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:61554140G>T	ENST00000403491.3	+	2	831	c.347G>T	c.(346-348)aGa>aTa	p.R116I	NFIA_ENST00000371185.2_Missense_Mutation_p.R116I|NFIA_ENST00000485903.2_Missense_Mutation_p.R116I|NFIA_ENST00000371184.2_Missense_Mutation_p.R116I|NFIA_ENST00000407417.3_Missense_Mutation_p.R108I|NFIA_ENST00000371191.1_Missense_Mutation_p.R139I|NFIA_ENST00000371189.4_Missense_Mutation_p.R161I|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000371187.3_Missense_Mutation_p.R116I	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	116					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R116I(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AAGATGCGAAGAATTGACTGC	0.463																																					p.R161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482T	1						.						114.0	122.0	119.0					1																	61554140		2203	4300	6503	61326728	SO:0001583	missense	4774	exon3			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.347G>T	1.37:g.61554140G>T	ENSP00000384523:p.Arg116Ile		61326728	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642410	0.87859	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.87	5.87	0.94306	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.996;0.984	D;D;D;D	0.76575	0.988;0.985;0.985;0.975	D	0.87201	0.2241	10	0.87932	D	0	-7.8722	20.2032	0.98269	0.0:0.0:1.0:0.0	.	161;139;116;116	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	I	139;108;161;116;116;116;116;116	ENSP00000360233:R139I;ENSP00000384680:R108I;ENSP00000360231:R161I;ENSP00000384523:R116I;ENSP00000419785:R116I;ENSP00000360227:R116I;ENSP00000360226:R116I;ENSP00000360229:R116I	ENSP00000360226:R116I	R	+	2	0	NFIA	61326728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.785000	0.95823	0.650000	0.86243	AGA		0.463	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
TM2D1	83941	broad.mit.edu	37	1	62175007	62175007	+	Missense_Mutation	SNP	C	C	A	rs369821446		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62175007C>A	ENST00000606498.1	-	3	361	c.341G>T	c.(340-342)cGa>cTa	p.R114L	TM2D1_ENST00000371180.2_Missense_Mutation_p.R176L|TM2D1_ENST00000371177.2_Missense_Mutation_p.R114L|TM2D1_ENST00000294613.5_Missense_Mutation_p.R114L|TM2D1_ENST00000472989.1_5'UTR			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	114					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)	p.R176Q(1)|p.R114Q(1)|p.R176L(1)		large_intestine(2)|lung(3)|ovary(1)	6						TTACACATTTCGGCAAGATAT	0.363																																					p.R114L												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G341T	1						.						78.0	74.0	75.0					1																	62175007		1840	4083	5923	61947595	SO:0001583	missense	83941	exon3			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.341G>T	1.37:g.62175007C>A	ENSP00000475700:p.Arg114Leu		61947595	NM_032027	A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37		.	.	.	.	.	.	.	.	.	.	C	24.1	4.488563	0.84854	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	T	0.58666	0.2138	L	0.55743	1.74	0.58432	D	0.999995	P	0.45569	0.861	B	0.42738	0.396	T	0.61579	-0.7034	9	0.52906	T	0.07	-10.9907	18.396	0.90499	0.0:1.0:0.0:0.0	.	114	Q9BX74	TM2D1_HUMAN	L	176;114;114;114	.	ENSP00000294613:R114L	R	-	2	0	TM2D1	61947595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.467000	0.66737	2.882000	0.98803	0.655000	0.94253	CGA		0.363	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	
INADL	10207	broad.mit.edu	37	1	62380322	62380322	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62380322G>T	ENST00000371158.2	+	26	3670	c.3556G>T	c.(3556-3558)Gaa>Taa	p.E1186*	INADL_ENST00000316485.6_Nonsense_Mutation_p.E1186*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1186					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.E1186*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGACACCCAAGAAAAGAAAGA	0.383																																					p.E1186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3556T	1						.						76.0	80.0	79.0					1																	62380322		2203	4300	6503	62152910	SO:0001587	stop_gained	10207	exon26			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3556G>T	1.37:g.62380322G>T	ENSP00000360200:p.Glu1186*		62152910	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	41	8.614343	0.98886	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	.	.	.	4.69	3.75	0.43078	.	0.912726	0.09394	N	0.808112	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	6.5191	0.22264	0.0969:0.1859:0.7172:0.0	.	.	.	.	X	1186	.	ENSP00000326199:E1186X	E	+	1	0	INADL	62152910	0.053000	0.20554	0.025000	0.17156	0.024000	0.10985	1.935000	0.40173	1.285000	0.44548	0.579000	0.79373	GAA		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
INADL	10207	broad.mit.edu	37	1	62582288	62582288	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62582288C>A	ENST00000371158.2	+	36	4854	c.4740C>A	c.(4738-4740)atC>atA	p.I1580I	INADL_ENST00000543708.1_Silent_p.I394I	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1580	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.I1580I(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAGATCAGATCTTATCTGTGA	0.488																																					p.I1580I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4740A	1						.						78.0	81.0	80.0					1																	62582288		1962	4138	6100	62354876	SO:0001819	synonymous_variant	10207	exon36			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4740C>A	1.37:g.62582288C>A			62354876	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				0.488	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
L1TD1	54596	broad.mit.edu	37	1	62672405	62672405	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62672405G>T	ENST00000498273.1	+	3	400	c.105G>T	c.(103-105)aaG>aaT	p.K35N		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	35								p.K35N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaactgataaggacatagctc	0.333																																					p.K35N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G105T	1						.						28.0	24.0	25.0					1																	62672405		2045	3979	6024	62444993	SO:0001583	missense	54596	exon3			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.105G>T	1.37:g.62672405G>T	ENSP00000419901:p.Lys35Asn		62444993	NM_019079	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	7.332	0.619068	0.14129	.	.	ENSG00000240563	ENST00000498273	T	0.12879	2.64	1.93	0.999	0.19862	.	.	.	.	.	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	1	B	0.28026	0.198	B	0.32393	0.145	T	0.35773	-0.9775	9	0.59425	D	0.04	.	4.2957	0.10901	0.2059:0.0:0.7941:0.0	.	35	Q5T7N2	LITD1_HUMAN	N	35	ENSP00000419901:K35N	ENSP00000419901:K35N	K	+	3	2	L1TD1	62444993	0.003000	0.15002	0.003000	0.11579	0.009000	0.06853	0.174000	0.16743	0.378000	0.24764	0.313000	0.20887	AAG		0.333	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
L1TD1	54596	broad.mit.edu	37	1	62676460	62676460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62676460G>T	ENST00000498273.1	+	4	2309	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	672								p.E672*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tcaaattgaagaattctctaa	0.343																																					p.E672X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2014T	1						.						26.0	25.0	26.0					1																	62676460		1780	3293	5073	62449048	SO:0001587	stop_gained	54596	exon4			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2014G>T	1.37:g.62676460G>T	ENSP00000419901:p.Glu672*		62449048	NM_019079	Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	40	8.408180	0.98799	.	.	ENSG00000240563	ENST00000498273	.	.	.	2.87	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	5.6943	0.17847	0.1541:0.0:0.8459:0.0	.	.	.	.	X	672	.	ENSP00000419901:E672X	E	+	1	0	L1TD1	62449048	0.968000	0.33430	0.127000	0.21898	0.821000	0.46438	1.362000	0.34148	0.803000	0.34113	0.313000	0.20887	GAA		0.343	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
USP1	7398	broad.mit.edu	37	1	62911000	62911000	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62911000G>A	ENST00000339950.4	+	6	1964	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	USP1_ENST00000371146.1_Silent_p.G383G	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	383	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G383G(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGACTTGGGGAAGTGTGAAA	0.353																																					p.G383G	Ovarian(122;1846 2315 3982 19504)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1149A	1						.						43.0	46.0	45.0					1																	62911000		2202	4298	6500	62683588	SO:0001819	synonymous_variant	7398	exon6				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1149G>A	1.37:g.62911000G>A			62683588	NM_001017416	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Silent	SNP	ENST00000339950.4	37	CCDS621.1																																																																																				0.353	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415	
DOCK7	85440	broad.mit.edu	37	1	62923325	62923325	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62923325C>A	ENST00000340370.5	-	48	6188	c.6171G>T	c.(6169-6171)aaG>aaT	p.K2057N	DOCK7_ENST00000251157.5_Missense_Mutation_p.K2077N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2088	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.K2057N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTGATACTCCTTTTGATCCG	0.408																																					p.K2057N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6171T	1						.						196.0	190.0	192.0					1																	62923325		2203	4300	6503	62695913	SO:0001583	missense	85440	exon48				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6171G>T	1.37:g.62923325C>A	ENSP00000340742:p.Lys2057Asn		62695913	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001866|4.001866	0.74932|0.74932	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.18960	.|2.18;2.18	5.99|5.99	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.40222	.|0.1108	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P	.|0.59767	.|0.963;0.975;0.985;0.974;0.986;0.896	.|D;P;P;P;P;P	.|0.64321	.|0.924;0.848;0.888;0.842;0.875;0.802	.|T	.|0.22208	.|-1.0223	.|10	.|0.87932	.|D	.|0	.|.	10.8992|10.8992	0.47040|0.47040	0.0:0.7999:0.0:0.2001|0.0:0.7999:0.0:0.2001	.|.	.|2088;2077;2057;2046;2048;2079	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	X|N	1251|2088;2077;2057;818	.|ENSP00000251157:K2077N;ENSP00000340742:K2057N	.|ENSP00000251157:K2077N	G|K	-|-	1|3	0|2	DOCK7|DOCK7	62695913|62695913	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.387000|1.387000	0.34430|0.34430	0.876000|0.876000	0.35872|0.35872	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.408	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	62941433	62941433	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62941433G>A	ENST00000340370.5	-	45	5830	c.5813C>T	c.(5812-5814)aCg>aTg	p.T1938M	DOCK7_ENST00000251157.5_Missense_Mutation_p.T1958M|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1969	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.T1938M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGCATGAGACGTAGTCAGAAT	0.393																																					p.T1938M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5813T	1						.						161.0	158.0	159.0					1																	62941433		2203	4300	6503	62714021	SO:0001583	missense	85440	exon45				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5813C>T	1.37:g.62941433G>A	ENSP00000340742:p.Thr1938Met		62714021	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895994	0.91962	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.20598	2.06;2.06	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	H	0.94582	3.555	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;0.999;0.999;1.0;0.996	T	0.72600	-0.4244	10	0.87932	D	0	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	1969;1958;1938;1927;1929;1960	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	M	1969;1958;1938;699	ENSP00000251157:T1958M;ENSP00000340742:T1938M	ENSP00000251157:T1958M	T	-	2	0	DOCK7	62714021	1.000000	0.71417	0.780000	0.31762	0.957000	0.61999	9.869000	0.99810	2.660000	0.90430	0.655000	0.94253	ACG		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	62960062	62960062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62960062G>A	ENST00000340370.5	-	39	5025	c.5008C>T	c.(5008-5010)Cga>Tga	p.R1670*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R1692*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1701					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R1670*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGATTGCTTCGTTCTGAGTGC	0.478																																					p.R1670X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5008T	1						.						121.0	90.0	100.0					1																	62960062		2203	4300	6503	62732650	SO:0001587	stop_gained	85440	exon39				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5008C>T	1.37:g.62960062G>A	ENSP00000340742:p.Arg1670*		62732650	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.863188|9.863188	0.99283|0.99283	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	.|.	.|.	.|.	5.9|5.9	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62962	.|0.2471	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70781	.|-0.4779	.|3	0.02654|.	T|.	1|.	.|.	13.7953|13.7953	0.63166|0.63166	0.0:0.0:0.5771:0.4229|0.0:0.0:0.5771:0.4229	.|.	.|.	.|.	.|.	X|M	1701;1692;1670;431|863	.|.	ENSP00000251157:R1692X|.	R|T	-|-	1|2	2|0	DOCK7|DOCK7	62732650|62732650	1.000000|1.000000	0.71417|0.71417	0.585000|0.585000	0.28666|0.28666	0.389000|0.389000	0.30415|0.30415	3.195000|3.195000	0.51013|0.51013	1.471000|1.471000	0.48121|0.48121	-0.293000|-0.293000	0.09583|0.09583	CGA|ACG		0.478	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	62979258	62979258	+	Missense_Mutation	SNP	C	C	T	rs368205214		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:62979258C>T	ENST00000340370.5	-	32	4063	c.4046G>A	c.(4045-4047)cGa>cAa	p.R1349Q	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1380Q	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1380					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R1349Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTATTCATTCGTTCAAACAC	0.363																																					p.R1349Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4046A	1						.	C	GLN/ARG	0,4406		0,0,2203	91.0	86.0	88.0		4046	5.6	1.0	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK7	NM_033407.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1349/2110	62979258	1,13005	2203	4300	6503	62751846	SO:0001583	missense	85440	exon32				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4046G>A	1.37:g.62979258C>T	ENSP00000340742:p.Arg1349Gln		62751846	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115467	0.94339	0.0	1.16E-4	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.01933	4.55;4.55	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;P	0.69078	0.992;0.994;0.994;0.997;0.988;0.946	P;P;P;P;P;P	0.57548	0.716;0.796;0.713;0.823;0.608;0.507	T	0.00189	-1.1939	10	0.62326	D	0.03	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	1380;1380;1349;1349;1349;1380	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	Q	1380;1380;1349;119	ENSP00000251157:R1380Q;ENSP00000340742:R1349Q	ENSP00000251157:R1380Q	R	-	2	0	DOCK7	62751846	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	CGA		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	63018423	63018423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63018423G>A	ENST00000340370.5	-	22	2763	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R916*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	916					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R916*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGATTGATCGAACTTCATCA	0.393																																					p.R916X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2746T	1						.						103.0	93.0	97.0					1																	63018423		2203	4300	6503	62791011	SO:0001587	stop_gained	85440	exon22				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2746C>T	1.37:g.63018423G>A	ENSP00000340742:p.Arg916*		62791011	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.050470|9.050470	0.99048|0.99048	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.118551|.	0.64402|.	D|.	0.000015|.	.|T	.|0.63367	.|0.2505	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69510	.|-0.5126	.|3	0.14252|.	T|.	0.57|.	.|.	13.3586|13.3586	0.60642|0.60642	0.0:0.0:0.8424:0.1576|0.0:0.0:0.8424:0.1576	.|.	.|.	.|.	.|.	X|L	916|87	.|.	ENSP00000251157:R916X|.	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62791011|62791011	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	3.948000|3.948000	0.56660|0.56660	2.564000|2.564000	0.86499|0.86499	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	63024875	63024875	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63024875T>G	ENST00000340370.5	-	20	2233	c.2216A>C	c.(2215-2217)aAa>aCa	p.K739T	DOCK7_ENST00000251157.5_Missense_Mutation_p.K739T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	739					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.K739T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCAAAAAATTTGTCAAGATA	0.373																																					p.K739T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2216C	1						.						59.0	56.0	57.0					1																	63024875		2203	4300	6503	62797463	SO:0001583	missense	85440	exon20				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2216A>C	1.37:g.63024875T>G	ENSP00000340742:p.Lys739Thr		62797463	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046632	0.75846	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.41758	0.99;0.99	4.94	3.82	0.43975	.	0.051657	0.85682	D	0.000000	T	0.51058	0.1652	L	0.41824	1.3	0.58432	D	0.999998	D;D;D;D	0.76494	0.995;0.971;0.998;0.999	D;P;D;D	0.69142	0.962;0.855;0.947;0.959	T	0.48917	-0.8992	10	0.54805	T	0.06	.	10.3386	0.43864	0.0:0.0771:0.0:0.9229	.	739;739;739;739	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	T	739	ENSP00000251157:K739T;ENSP00000340742:K739T	ENSP00000251157:K739T	K	-	2	0	DOCK7	62797463	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.134000	0.71689	0.912000	0.36772	0.459000	0.35465	AAA		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
ANGPTL3	27329	broad.mit.edu	37	1	63068014	63068014	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63068014G>A	ENST00000371129.3	+	5	974	c.894G>A	c.(892-894)acG>acA	p.T298T	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	298	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.T298T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TCAATGAAACGTGGGAGAACT	0.333																																					p.T298T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	1						.						162.0	160.0	161.0					1																	63068014		2203	4300	6503	62840602	SO:0001819	synonymous_variant	27329	exon5			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.894G>A	1.37:g.63068014G>A			62840602	NM_014495	A0JLS0|B1ALJ0|B2RCW1	Silent	SNP	ENST00000371129.3	37	CCDS622.1																																																																																				0.333	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495	
ANGPTL3	27329	broad.mit.edu	37	1	63069703	63069703	+	Missense_Mutation	SNP	G	G	A	rs192778191	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63069703G>A	ENST00000371129.3	+	6	1075	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	332	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.R332Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TATGTTTTACGAATTGAGTTG	0.318													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16844	0.0		0.0	False		,,,				2504	0.001				p.R332Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995A	1						.	G	GLN/ARG,	0,4406		0,0,2203	75.0	79.0	78.0		995,	4.6	1.0	1		78	1,8593	1.2+/-3.3	0,1,4296	yes	missense,intron	ANGPTL3,DOCK7	NM_014495.2,NM_033407.2	43,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	332/461,	63069703	1,12999	2203	4297	6500	62842291	SO:0001583	missense	27329	exon6			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.995G>A	1.37:g.63069703G>A	ENSP00000360170:p.Arg332Gln		62842291	NM_014495	A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	ENST00000371129.3	37	CCDS622.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.90	3.721182	0.68959	0.0	1.16E-4	ENSG00000132855	ENST00000371129	T	0.80566	-1.39	5.49	4.58	0.56647	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.229780	0.45361	N	0.000377	D	0.86460	0.5938	M	0.87456	2.885	0.37925	D	0.931827	D	0.89917	1.0	D	0.70227	0.968	D	0.87747	0.2589	10	0.49607	T	0.09	.	10.2868	0.43573	0.15:0.0:0.85:0.0	.	332	Q9Y5C1	ANGL3_HUMAN	Q	332	ENSP00000360170:R332Q	ENSP00000360170:R332Q	R	+	2	0	ANGPTL3	62842291	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	3.773000	0.55333	1.311000	0.45024	0.650000	0.86243	CGA		0.318	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495	
DOCK7	85440	broad.mit.edu	37	1	63099225	63099225	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63099225C>A	ENST00000340370.5	-	10	1077	c.1060G>T	c.(1060-1062)Gac>Tac	p.D354Y	DOCK7_ENST00000404627.2_Missense_Mutation_p.D354Y|DOCK7_ENST00000251157.5_Missense_Mutation_p.D354Y	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	354					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.D354Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTCCAATGTCTCCTTGCTGT	0.358																																					p.D354Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060T	1						.						234.0	229.0	230.0					1																	63099225		2203	4300	6503	62871813	SO:0001583	missense	85440	exon10				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1060G>T	1.37:g.63099225C>A	ENSP00000340742:p.Asp354Tyr		62871813	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068034	0.76301	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.42900	0.96;0.96;0.96	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.998;1.0;0.993;1.0;0.976	T	0.74399	-0.3678	10	0.87932	D	0	.	16.3272	0.82987	0.0:1.0:0.0:0.0	.	354;354;354;354;354	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	Y	354	ENSP00000251157:D354Y;ENSP00000340742:D354Y;ENSP00000384446:D354Y	ENSP00000251157:D354Y	D	-	1	0	DOCK7	62871813	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.558000	0.82253	2.075000	0.62263	0.555000	0.69702	GAC		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
ATG4C	84938	broad.mit.edu	37	1	63284707	63284707	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63284707A>C	ENST00000317868.4	+	5	633	c.426A>C	c.(424-426)gaA>gaC	p.E142D	ATG4C_ENST00000371120.3_Missense_Mutation_p.E142D	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	142					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.E142D(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGAATATTGAAAATTCAGACT	0.343																																					p.E142D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A426C	1						.						63.0	65.0	64.0					1																	63284707		2203	4299	6502	63057295	SO:0001583	missense	84938	exon5			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.426A>C	1.37:g.63284707A>C	ENSP00000322159:p.Glu142Asp		63057295	NM_178221	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.254017	0.39896	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000443289;ENST00000540025;ENST00000371118	.	.	.	5.93	1.12	0.20585	.	0.177676	0.52532	D	0.000067	T	0.28732	0.0712	M	0.75777	2.31	0.36548	D	0.871694	B	0.06786	0.001	B	0.12837	0.008	T	0.11867	-1.0570	9	0.12430	T	0.62	-21.2969	5.5083	0.16866	0.4846:0.2489:0.2665:0.0	.	142	Q96DT6	ATG4C_HUMAN	D	142	.	ENSP00000322159:E142D	E	+	3	2	ATG4C	63057295	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.733000	0.26087	0.149000	0.19098	0.533000	0.62120	GAA		0.343	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
ITGB3BP	23421	broad.mit.edu	37	1	63919604	63919604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63919604C>A	ENST00000271002.10	-	7	550	c.469G>T	c.(469-471)Gga>Tga	p.G157*	ITGB3BP_ENST00000283568.8_Nonsense_Mutation_p.G157*|ITGB3BP_ENST00000371092.3_Nonsense_Mutation_p.G196*|ITGB3BP_ENST00000461681.1_5'UTR	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	157					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.G157*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TGAGGAAGTCCTGTACTCTTT	0.284																																					p.G157X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G469T	1						.						109.0	107.0	108.0					1																	63919604		2201	4297	6498	63692192	SO:0001587	stop_gained	23421	exon7			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.469G>T	1.37:g.63919604C>A	ENSP00000271002:p.Gly157*		63692192	NM_014288	B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Nonsense_Mutation	SNP	ENST00000271002.10	37	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565407	0.27915	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	.	.	.	4.77	1.83	0.25207	.	1.069550	0.07258	N	0.866998	.	.	.	.	.	.	0.34362	D	0.691077	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.0771	7.4836	0.27419	0.0:0.7011:0.0:0.2989	.	.	.	.	X	157;196;157	.	ENSP00000271002:G157X	G	-	1	0	ITGB3BP	63692192	0.075000	0.21258	0.011000	0.14972	0.251000	0.25915	0.074000	0.14662	0.675000	0.31264	0.644000	0.83932	GGA		0.284	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288	
ITGB3BP	23421	broad.mit.edu	37	1	63920611	63920611	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:63920611T>C	ENST00000271002.10	-	5	364	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	ITGB3BP_ENST00000283568.8_Missense_Mutation_p.K95E|ITGB3BP_ENST00000371092.3_Missense_Mutation_p.K134E|ITGB3BP_ENST00000461681.1_5'UTR	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	95					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.K95E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TCTGACAATTTCTCAACTTTT	0.303																																					p.K95E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A283G	1						.						68.0	66.0	67.0					1																	63920611		2198	4296	6494	63693199	SO:0001583	missense	23421	exon5			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.283A>G	1.37:g.63920611T>C	ENSP00000271002:p.Lys95Glu		63693199	NM_014288	B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	37	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386327	0.61956	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.48201	0.82;0.82;0.82	5.67	4.55	0.56014	.	0.563832	0.17273	N	0.180287	T	0.15392	0.0371	L	0.47716	1.5	0.20196	N	0.999924	B;B;B;B	0.28783	0.091;0.015;0.222;0.111	B;B;B;B	0.24701	0.039;0.012;0.055;0.021	T	0.21999	-1.0229	10	0.07813	T	0.8	-1.3759	9.2361	0.37466	0.0:0.0824:0.0:0.9176	.	95;55;134;95	Q13352-2;D3DQ59;Q13352-5;Q13352	.;.;.;CENPR_HUMAN	E	95;134;95	ENSP00000271002:K95E;ENSP00000360133:K134E;ENSP00000283568:K95E	ENSP00000271002:K95E	K	-	1	0	ITGB3BP	63693199	0.873000	0.30073	0.994000	0.49952	0.652000	0.38707	1.118000	0.31246	0.981000	0.38548	0.528000	0.53228	AAA		0.303	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288	
ROR1	4919	broad.mit.edu	37	1	64515548	64515548	+	Missense_Mutation	SNP	C	C	T	rs199925889		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:64515548C>T	ENST00000371079.1	+	3	724	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	ROR1_ENST00000371080.1_Missense_Mutation_p.R117W|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	117	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.R117W(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CTCTCGGCTGCGGATTAGAAA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19236	0.0		0.001	False		,,,				2504	0.0				p.R117W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349T	1						.						98.0	103.0	101.0					1																	64515548		2203	4300	6503	64288136	SO:0001583	missense	4919	exon3			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.349C>T	1.37:g.64515548C>T	ENSP00000360120:p.Arg117Trp		64288136	NM_005012	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.7	4.190507	0.78789	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.69306	-0.39;-0.39	5.8	2.85	0.33270	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38837	N	0.001541	T	0.76033	0.3931	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.80460	-0.1373	10	0.87932	D	0	.	15.2766	0.73745	0.3647:0.6353:0.0:0.0	.	117;117	Q01973;Q66K77	ROR1_HUMAN;.	W	117;117;120	ENSP00000360121:R117W;ENSP00000360120:R117W	ENSP00000360120:R117W	R	+	1	2	ROR1	64288136	0.603000	0.26924	0.977000	0.42913	0.988000	0.76386	0.704000	0.25661	0.328000	0.23435	0.563000	0.77884	CGG		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	
ROR1	4919	broad.mit.edu	37	1	64644455	64644455	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:64644455A>C	ENST00000371079.1	+	9	3106	c.2731A>C	c.(2731-2733)Aaa>Caa	p.K911Q	ROR1_ENST00000545203.1_Missense_Mutation_p.K362Q	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	911					peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.K911Q(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AAAACCCTACAAAATTGACTC	0.383																																					p.K911Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2731C	1						.						98.0	95.0	96.0					1																	64644455		2203	4300	6503	64417043	SO:0001583	missense	4919	exon9			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2731A>C	1.37:g.64644455A>C	ENSP00000360120:p.Lys911Gln		64417043	NM_005012	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	A	2.860	-0.236265	0.05944	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.78246	-0.91;-1.16	5.72	5.72	0.89469	.	0.000000	0.45867	D	0.000327	T	0.46814	0.1412	N	0.08118	0	0.47245	D	0.999367	B	0.17038	0.02	B	0.09377	0.004	T	0.47100	-0.9143	10	0.31617	T	0.26	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	911	Q01973	ROR1_HUMAN	Q	911;914;362	ENSP00000360120:K911Q;ENSP00000441637:K362Q	ENSP00000360120:K911Q	K	+	1	0	ROR1	64417043	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	5.997000	0.70646	2.311000	0.77944	0.533000	0.62120	AAA		0.383	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	
CACHD1	57685	broad.mit.edu	37	1	65137281	65137281	+	Missense_Mutation	SNP	A	A	G	rs74928360		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:65137281A>G	ENST00000371073.2	+	17	2422	c.2422A>G	c.(2422-2424)Atg>Gtg	p.M808V	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.M757V			Q5VU97	CAHD1_HUMAN	cache domain containing 1	808	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.M757V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGTGGCTGTGATGGGCATTGA	0.403																																					p.M757V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2269G	1						.						220.0	192.0	201.0					1																	65137281		2203	4300	6503	64909869	SO:0001583	missense	57685	exon17			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2422A>G	1.37:g.65137281A>G	ENSP00000360113:p.Met808Val		64909869	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	A	8.633	0.894037	0.17613	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.17213	2.29;2.3	6.08	6.08	0.98989	Cache (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.03983	-0.305	0.80722	D	1	P	0.35542	0.508	P	0.51945	0.685	T	0.15435	-1.0437	10	0.02654	T	1	-35.9413	16.6438	0.85155	1.0:0.0:0.0:0.0	.	808	Q5VU97	CAHD1_HUMAN	V	808;757	ENSP00000360113:M808V;ENSP00000290039:M757V	ENSP00000290039:M757V	M	+	1	0	CACHD1	64909869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.550000	0.90675	2.333000	0.79357	0.533000	0.62120	ATG		0.403	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
CACHD1	57685	broad.mit.edu	37	1	65157009	65157009	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:65157009A>G	ENST00000371073.2	+	27	3590	c.3590A>G	c.(3589-3591)tAc>tGc	p.Y1197C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.Y1146C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1197					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Y1146C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTTCTAGGTTACAGCACCATG	0.483																																					p.Y1146C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3437G	1						.						90.0	83.0	85.0					1																	65157009		2203	4300	6503	64929597	SO:0001583	missense	57685	exon27			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3590A>G	1.37:g.65157009A>G	ENSP00000360113:p.Tyr1197Cys		64929597	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	A	19.03	3.748780	0.69533	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.65178	-0.14;-0.08	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74182	-0.3748	10	0.87932	D	0	-28.2494	15.3597	0.74460	1.0:0.0:0.0:0.0	.	1197	Q5VU97	CAHD1_HUMAN	C	1197;1146	ENSP00000360113:Y1197C;ENSP00000290039:Y1146C	ENSP00000290039:Y1146C	Y	+	2	0	CACHD1	64929597	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.850000	0.92190	2.034000	0.60081	0.459000	0.35465	TAC		0.483	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
JAK1	3716	broad.mit.edu	37	1	65321259	65321259	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:65321259C>A	ENST00000342505.4	-	11	1829	c.1581G>T	c.(1579-1581)aaG>aaT	p.K527N		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	527	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.K527N(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGATCTGCTTCTTGAGGTGGC	0.577			Mis		ALL																																p.K527N			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1581T	1						.						66.0	69.0	68.0					1																	65321259		2092	4218	6310	65093847	SO:0001583	missense	3716	exon11			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1581G>T	1.37:g.65321259C>A	ENSP00000343204:p.Lys527Asn		65093847	NM_002227	Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542023	0.65198	.	.	ENSG00000162434	ENST00000342505	T	0.10288	2.89	4.53	4.53	0.55603	SH2 motif (3);	.	.	.	.	T	0.06371	0.0164	L	0.48642	1.525	0.38581	D	0.950182	P	0.44734	0.842	P	0.45343	0.477	T	0.08330	-1.0727	9	0.56958	D	0.05	-7.3002	6.0043	0.19537	0.0:0.7693:0.0:0.2307	.	527	P23458	JAK1_HUMAN	N	527	ENSP00000343204:K527N	ENSP00000343204:K527N	K	-	3	2	JAK1	65093847	0.950000	0.32346	1.000000	0.80357	0.735000	0.41995	0.382000	0.20635	2.519000	0.84933	0.655000	0.94253	AAG		0.577	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LEPR	3953	broad.mit.edu	37	1	66036405	66036405	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:66036405G>T	ENST00000349533.6	+	4	475	c.290G>T	c.(289-291)aGa>aTa	p.R97I	LEPR_ENST00000371060.3_Missense_Mutation_p.R97I|LEPR_ENST00000371059.3_Missense_Mutation_p.R97I|LEPR_ENST00000344610.8_Missense_Mutation_p.R97I|LEPR_ENST00000371058.1_Missense_Mutation_p.R97I|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.R97I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCAAGATAGAAACTGCTCC	0.343																																					p.R97I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290T	1						.						81.0	81.0	81.0					1																	66036405		2203	4300	6503	65808993	SO:0001583	missense	3953	exon4			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.290G>T	1.37:g.66036405G>T	ENSP00000330393:p.Arg97Ile		65808993	NM_001003679	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	6.053	0.378052	0.11466	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55052	0.56;0.58;0.57;0.54;0.56	5.69	2.03	0.26663	.	0.677457	0.15206	N	0.274715	T	0.07369	0.0186	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.0;0.0;0.001;0.004	T	0.16453	-1.0402	10	0.36615	T	0.2	-1.6603	2.3012	0.04162	0.598:0.1622:0.0847:0.1551	.	97;97;97;97	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	I	97	ENSP00000340884:R97I;ENSP00000330393:R97I;ENSP00000360099:R97I;ENSP00000360098:R97I;ENSP00000360097:R97I	ENSP00000340884:R97I	R	+	2	0	LEPR	65808993	0.049000	0.20398	0.793000	0.32043	0.106000	0.19336	-0.050000	0.11904	0.089000	0.17243	-1.394000	0.01149	AGA		0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
LEPR	3953	broad.mit.edu	37	1	66102253	66102253	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:66102253C>A	ENST00000349533.6	+	20	3238	c.3053C>A	c.(3052-3054)tCt>tAt	p.S1018Y	LEPR_ENST00000406510.3_Missense_Mutation_p.S85Y	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.S1018Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGCAAAAATTCTCCGTTGAAG	0.408																																					p.S1018Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3053A	1						.						65.0	71.0	69.0					1																	66102253		2202	4297	6499	65874841	SO:0001583	missense	3953	exon20			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3053C>A	1.37:g.66102253C>A	ENSP00000330393:p.Ser1018Tyr		65874841	NM_002303	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	4.744	0.138366	0.09083	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.60548	0.18	5.93	3.09	0.35607	.	0.050137	0.85682	D	0.000000	T	0.32675	0.0837	L	0.58101	1.795	0.22366	N	0.999163	B	0.19583	0.037	B	0.21917	0.037	T	0.37596	-0.9699	10	0.66056	D	0.02	-5.9193	8.842	0.35148	0.1236:0.7481:0.0:0.1283	.	1018	P48357	LEPR_HUMAN	Y	1018;85	ENSP00000330393:S1018Y	ENSP00000330393:S1018Y	S	+	2	0	LEPR	65874841	0.135000	0.22499	0.001000	0.08648	0.005000	0.04900	2.793000	0.47845	0.421000	0.25980	-0.840000	0.03056	TCT		0.408	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
LEPR	3953	broad.mit.edu	37	1	66102431	66102431	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:66102431C>A	ENST00000349533.6	+	20	3416	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	LEPR_ENST00000406510.3_Silent_p.I144I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.I1077I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAAAGTCTATCTATTATTTAG	0.398																																					p.I1077I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3231A	1						.						64.0	72.0	69.0					1																	66102431		2203	4300	6503	65875019	SO:0001819	synonymous_variant	3953	exon20			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3231C>A	1.37:g.66102431C>A			65875019	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																				0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
PDE4B	5142	broad.mit.edu	37	1	66458674	66458674	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:66458674G>A	ENST00000329654.4	+	3	468				PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Missense_Mutation_p.E29K	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.E29K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AATGCATTTAGAACTTGAGCT	0.413																																					p.E29K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	1						.						106.0	102.0	103.0					1																	66458674		2203	4300	6503	66231262	SO:0001627	intron_variant	5142	exon1			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.281+74156G>A	1.37:g.66458674G>A			66231262	NM_001037340	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Intron	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909935	0.92107	.	.	ENSG00000184588	ENST00000423207	T	0.69306	-0.39	5.52	5.52	0.82312	.	.	.	.	.	T	0.69682	0.3138	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.63734	-0.6570	9	0.32370	T	0.25	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	34	Q59GM8	.	K	29	ENSP00000392947:E29K	ENSP00000392947:E29K	E	+	1	0	PDE4B	66231262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.359000	0.79477	2.878000	0.98634	0.650000	0.86243	GAA		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
PDE4B	5142	broad.mit.edu	37	1	66838105	66838105	+	Missense_Mutation	SNP	A	A	G	rs200211480		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:66838105A>G	ENST00000329654.4	+	17	2142	c.1955A>G	c.(1954-1956)tAt>tGt	p.Y652C	PDE4B_ENST00000371045.5_Missense_Mutation_p.Y480C|PDE4B_ENST00000371049.3_Missense_Mutation_p.Y652C|PDE4B_ENST00000423207.2_Missense_Mutation_p.Y637C|PDE4B_ENST00000480109.2_Missense_Mutation_p.Y419C	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	652					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.Y637C(1)|p.Y652C(1)|p.Y480C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGGAACTGGTATCAGAGCATG	0.483																																					p.Y652C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1955G	1						.						113.0	104.0	107.0					1																	66838105		2203	4300	6503	66610693	SO:0001583	missense	5142	exon17			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1955A>G	1.37:g.66838105A>G	ENSP00000332116:p.Tyr652Cys		66610693	NM_002600	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344153	0.82022	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.05	5.05	0.67936	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;0.999;1.0;1.0	D	0.85389	0.1124	10	0.87932	D	0	.	14.9065	0.70724	1.0:0.0:0.0:0.0	.	419;637;522;642;652	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	C	652;652;652;637;480;419	ENSP00000332116:Y652C;ENSP00000342637:Y652C;ENSP00000360088:Y652C;ENSP00000392947:Y637C;ENSP00000360084:Y480C;ENSP00000432592:Y419C	ENSP00000332116:Y652C	Y	+	2	0	PDE4B	66610693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.029000	0.93718	2.244000	0.73946	0.533000	0.62120	TAT		0.483	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
SGIP1	84251	broad.mit.edu	37	1	67199489	67199489	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67199489A>G	ENST00000371037.4	+	21	2034	c.1957A>G	c.(1957-1959)Atg>Gtg	p.M653V	SGIP1_ENST00000435165.2_Missense_Mutation_p.M158V|SGIP1_ENST00000237247.6_Missense_Mutation_p.M684V|SGIP1_ENST00000371039.1_Missense_Mutation_p.M456V|SGIP1_ENST00000371035.3_Missense_Mutation_p.M443V|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000371036.3_Missense_Mutation_p.M455V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	653	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.M653V(1)|p.M456V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCCAAATTTGATGACTCACCT	0.353																																					p.M653V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1957G	1						.						135.0	131.0	132.0					1																	67199489		2203	4300	6503	66972077	SO:0001583	missense	84251	exon21			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1957A>G	1.37:g.67199489A>G	ENSP00000360076:p.Met653Val		66972077	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329031	0.41197	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	6.0	6.0	0.97389	Muniscin C-terminal mu homology domain (1);	0.036257	0.85682	D	0.000000	T	0.14227	0.0344	N	0.04880	-0.145	0.49213	D	0.999765	B;B;B;B;B	0.30634	0.05;0.013;0.166;0.288;0.012	B;B;B;B;B	0.30105	0.089;0.037;0.038;0.111;0.009	T	0.10064	-1.0646	10	0.45353	T	0.12	-18.811	16.5044	0.84266	1.0:0.0:0.0:0.0	.	683;158;255;443;653	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	V	684;456;443;683;656;455;653;158	ENSP00000237247:M684V;ENSP00000360078:M456V;ENSP00000360074:M443V;ENSP00000360075:M455V;ENSP00000360076:M653V;ENSP00000395525:M158V	ENSP00000237247:M684V	M	+	1	0	SGIP1	66972077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.295000	0.77249	0.528000	0.53228	ATG		0.353	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
WDR78	79819	broad.mit.edu	37	1	67306290	67306290	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67306290T>C	ENST00000371026.3	-	9	1411	c.1356A>G	c.(1354-1356)gaA>gaG	p.E452E	WDR78_ENST00000371023.3_Silent_p.E452E|WDR78_ENST00000431318.1_Silent_p.E198E	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	452	Glu-rich.				hematopoietic progenitor cell differentiation (GO:0002244)			p.E452E(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCTTCTTAGATTCTTCCTCTA	0.388																																					p.E452E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1356G	1						.						160.0	162.0	161.0					1																	67306290		2203	4300	6503	67078878	SO:0001819	synonymous_variant	79819	exon9			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1356A>G	1.37:g.67306290T>C			67078878	NM_207014	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	CCDS635.1																																																																																				0.388	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
WDR78	79819	broad.mit.edu	37	1	67358918	67358918	+	Missense_Mutation	SNP	A	A	C	rs112758225		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67358918A>C	ENST00000371026.3	-	3	579	c.524T>G	c.(523-525)tTt>tGt	p.F175C	WDR78_ENST00000371023.3_Missense_Mutation_p.F175C|WDR78_ENST00000371022.3_Missense_Mutation_p.F175C|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	175					hematopoietic progenitor cell differentiation (GO:0002244)			p.F175C(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTACCTTGTAAACTGCCCTAA	0.313																																					p.F175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T524G	1						.						123.0	127.0	125.0					1																	67358918		2203	4300	6503	67131506	SO:0001583	missense	79819	exon3			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.524T>G	1.37:g.67358918A>C	ENSP00000360065:p.Phe175Cys		67131506	NM_207014	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313151	0.60414	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.62364	0.03;1.82;0.52	5.29	4.13	0.48395	.	0.100647	0.64402	D	0.000001	T	0.65228	0.2671	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.964;0.959;0.959	T	0.69767	-0.5056	10	0.87932	D	0	-10.4879	8.3393	0.32235	0.8177:0.0:0.0:0.1823	.	175;175;175	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	C	175	ENSP00000360065:F175C;ENSP00000360062:F175C;ENSP00000360061:F175C	ENSP00000360061:F175C	F	-	2	0	WDR78	67131506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.089000	0.41672	0.918000	0.36919	0.528000	0.53228	TTT		0.313	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
MIER1	57708	broad.mit.edu	37	1	67450503	67450503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67450503G>T	ENST00000355356.3	+	13	1608	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*	MIER1_ENST00000371018.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000357692.2_Nonsense_Mutation_p.E504*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.E540*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	487					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.E487*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						CAATGGAAAAGAAAGTCCAGG	0.363																																					p.E504X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1510T	1						.						69.0	69.0	69.0					1																	67450503		1819	4076	5895	67223091	SO:0001587	stop_gained	57708	exon15				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1459G>T	1.37:g.67450503G>T	ENSP00000347514:p.Glu487*		67223091	NM_001146110	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	ENST00000355356.3	37	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	G	37	6.224381	0.97390	.	.	ENSG00000198160	ENST00000371017;ENST00000357692;ENST00000401041;ENST00000355356	.	.	.	5.69	5.69	0.88448	.	0.110433	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.2647	20.205	0.98274	0.0:0.0:1.0:0.0	.	.	.	.	X	508;504;540;487	.	ENSP00000347514:E487X	E	+	1	0	MIER1	67223091	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.079000	0.76829	2.857000	0.98124	0.650000	0.86243	GAA		0.363	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948	
SLC35D1	23169	broad.mit.edu	37	1	67519657	67519657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67519657C>A	ENST00000235345.5	-	1	125	c.40G>T	c.(40-42)Gga>Tga	p.G14*	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	14					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)	p.G14*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GGGGCTTCTCCTTTAACCCGA	0.672																																					p.G14X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G40T	1						.						46.0	52.0	50.0					1																	67519657		2203	4300	6503	67292245	SO:0001587	stop_gained	23169	exon1			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.40G>T	1.37:g.67519657C>A	ENSP00000235345:p.Gly14*		67292245	NM_015139	A8K185|B7Z3X2|Q52LU5|Q92548	Nonsense_Mutation	SNP	ENST00000235345.5	37	CCDS636.1	.	.	.	.	.	.	.	.	.	.	C	38	7.046336	0.98025	.	.	ENSG00000116704	ENST00000235345	.	.	.	3.41	3.41	0.39046	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.2508	12.6981	0.57016	0.0:1.0:0.0:0.0	.	.	.	.	X	14	.	ENSP00000235345:G14X	G	-	1	0	SLC35D1	67292245	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.643000	0.24750	1.900000	0.55004	0.462000	0.41574	GGA		0.672	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139	
C1orf141	400757	broad.mit.edu	37	1	67581112	67581112	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67581112T>G	ENST00000371007.2	-	5	378	c.269A>C	c.(268-270)aAg>aCg	p.K90T	C1orf141_ENST00000544837.1_Missense_Mutation_p.K90T|C1orf141_ENST00000371006.1_Missense_Mutation_p.K90T	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	90								p.K90T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AAAATTACTCTTTCTAGGTTC	0.239																																					p.K90T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269C	1						.						49.0	50.0	49.0					1																	67581112		2191	4272	6463	67353700	SO:0001583	missense	400757	exon4			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.269A>C	1.37:g.67581112T>G	ENSP00000360046:p.Lys90Thr		67353700	NM_001013674	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	T	9.094	1.002473	0.19121	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837;ENST00000371005;ENST00000448166	T;T;T	0.37058	1.22;1.22;1.22	3.94	1.6	0.23607	.	0.772748	0.10543	N	0.662494	T	0.18509	0.0444	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.57152	0.814	T	0.06499	-1.0823	10	0.66056	D	0.02	-1.7688	2.7942	0.05396	0.2214:0.1227:0.0:0.6559	.	90	Q5JVX7	CA141_HUMAN	T	90	ENSP00000360046:K90T;ENSP00000360045:K90T;ENSP00000444018:K90T	ENSP00000360044:K90T	K	-	2	0	C1orf141	67353700	0.001000	0.12720	0.001000	0.08648	0.217000	0.24651	0.337000	0.19841	0.341000	0.23771	-0.333000	0.08304	AAG		0.239	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
C1orf141	400757	broad.mit.edu	37	1	67591476	67591476	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67591476C>A	ENST00000371007.2	-	4	301	c.192G>T	c.(190-192)aaG>aaT	p.K64N	C1orf141_ENST00000544837.1_Missense_Mutation_p.K64N|C1orf141_ENST00000371006.1_Missense_Mutation_p.K64N	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	64								p.K64N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CTTCTTTGATCTTTGATATTG	0.343																																					p.K64N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G192T	1						.						273.0	256.0	262.0					1																	67591476		2203	4300	6503	67364064	SO:0001583	missense	400757	exon3			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.192G>T	1.37:g.67591476C>A	ENSP00000360046:p.Lys64Asn		67364064	NM_001013674	Q0P5P5|Q5JVX5	Missense_Mutation	SNP	ENST00000371007.2	37	CCDS30745.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857639	0.32791	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000371004;ENST00000544837;ENST00000371005;ENST00000448166;ENST00000371003	T;T;T	0.33654	1.4;1.4;1.4	3.99	0.846	0.18955	.	0.525998	0.15983	N	0.235215	T	0.14141	0.0342	N	0.19112	0.55	0.09310	N	1	D	0.58268	0.982	P	0.54210	0.745	T	0.04991	-1.0913	10	0.72032	D	0.01	-0.0515	2.5464	0.04738	0.1917:0.5153:0.1861:0.1068	.	64	Q5JVX7	CA141_HUMAN	N	64	ENSP00000360046:K64N;ENSP00000360045:K64N;ENSP00000444018:K64N	ENSP00000360042:K64N	K	-	3	2	C1orf141	67364064	0.001000	0.12720	0.000000	0.03702	0.123000	0.20343	0.464000	0.21988	0.195000	0.20347	0.563000	0.77884	AAG		0.343	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674	
SERBP1	26135	broad.mit.edu	37	1	67885866	67885866	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67885866C>A	ENST00000370995.2	-	6	907	c.822G>T	c.(820-822)gaG>gaT	p.E274D	SERBP1_ENST00000361219.6_Missense_Mutation_p.E259D|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000370994.4_Missense_Mutation_p.E253D|SERBP1_ENST00000370990.5_Missense_Mutation_p.E268D|SERBP1_ENST00000484880.1_5'UTR			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	274					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)	p.E274D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAACTTCATTCTCCCTGTGAA	0.323																																					p.E274D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G822T	1						.						90.0	94.0	92.0					1																	67885866		2203	4300	6503	67658454	SO:0001583	missense	26135	exon6			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.822G>T	1.37:g.67885866C>A	ENSP00000360034:p.Glu274Asp		67658454	NM_001018067	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277306	0.59758	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.84	-0.66	0.11421	Hyaluronan/mRNA-binding protein (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.62088	1.915	0.58432	D	0.999999	D;D;P;P	0.76494	0.992;0.999;0.604;0.689	D;D;B;P	0.83275	0.989;0.996;0.208;0.676	T	0.53287	-0.8460	10	0.16420	T	0.52	-23.526	11.2134	0.48813	0.0:0.5048:0.0:0.4952	.	316;331;259;274	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	D	253;274;259;268	ENSP00000360033:E253D;ENSP00000360034:E274D;ENSP00000354591:E259D;ENSP00000360029:E268D	ENSP00000354591:E259D	E	-	3	2	SERBP1	67658454	0.951000	0.32395	0.991000	0.47740	0.916000	0.54674	0.151000	0.16283	-0.074000	0.12820	0.460000	0.39030	GAG		0.323	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	
SERBP1	26135	broad.mit.edu	37	1	67891862	67891862	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:67891862C>T	ENST00000370995.2	-	2	505	c.420G>A	c.(418-420)aaG>aaA	p.K140K	SERBP1_ENST00000361219.6_Silent_p.K140K|SERBP1_ENST00000370994.4_Silent_p.K140K|SERBP1_ENST00000370990.5_Silent_p.K140K|SERBP1_ENST00000484880.1_5'Flank			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	140					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)	p.K140K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTTCAAGTGGCTTTTCGAATC	0.443																																					p.K140K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	1						.						189.0	188.0	188.0					1																	67891862		2203	4300	6503	67664450	SO:0001819	synonymous_variant	26135	exon2			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.420G>A	1.37:g.67891862C>T			67664450	NM_001018067	Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	ENST00000370995.2	37	CCDS30746.1																																																																																				0.443	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067	
RPE65	6121	broad.mit.edu	37	1	68903978	68903978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:68903978G>T	ENST00000262340.5	-	10	1073	c.1020C>A	c.(1018-1020)taC>taA	p.Y340*		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	340					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.Y340*(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTAAATATAAGTAATTATAAA	0.338																																					p.Y340X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1020A	1						.						49.0	52.0	51.0					1																	68903978		2203	4300	6503	68676566	SO:0001587	stop_gained	6121	exon10			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1020C>A	1.37:g.68903978G>T	ENSP00000262340:p.Tyr340*		68676566	NM_000329	A8K1L0|Q5T9U3	Nonsense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	36	5.919906	0.97105	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.71	2.85	0.33270	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2846	8.5907	0.33686	0.2885:0.0:0.7115:0.0	.	.	.	.	X	340	.	ENSP00000262340:Y340X	Y	-	3	2	RPE65	68676566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.698000	0.37794	0.779000	0.33543	0.591000	0.81541	TAC		0.338	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
RPE65	6121	broad.mit.edu	37	1	68910339	68910339	+	Nonsense_Mutation	SNP	G	G	A	rs61752877		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:68910339G>A	ENST00000262340.5	-	5	423	c.370C>T	c.(370-372)Cga>Tga	p.R124*		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	124					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.R124*(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCTACTCCTCGAAAGTAAGAA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18235	0.0		0.0	False		,,,				2504	0.0				p.R124X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C370T	1	GRCh37	CM983760	RPE65	M	rs61752877	.						56.0	59.0	58.0					1																	68910339		2203	4300	6503	68682927	SO:0001587	stop_gained	6121	exon5			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.370C>T	1.37:g.68910339G>A	ENSP00000262340:p.Arg124*		68682927	NM_000329	A8K1L0|Q5T9U3	Nonsense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573860	0.96553	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.05	1.88	0.25563	.	0.595355	0.17781	N	0.162247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-2.5107	14.9632	0.71171	0.0:0.0:0.3727:0.6272	rs61752877	.	.	.	X	124	.	ENSP00000262340:R124X	R	-	1	2	RPE65	68682927	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	1.775000	0.38584	0.207000	0.20607	0.655000	0.94253	CGA		0.363	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
DEPDC1	55635	broad.mit.edu	37	1	68944921	68944921	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:68944921G>T	ENST00000456315.2	-	10	2132	c.2018C>A	c.(2017-2019)tCt>tAt	p.S673Y	DEPDC1_ENST00000370966.5_Missense_Mutation_p.S389Y|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	673					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)	p.S389Y(1)|p.S673Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CATTAAGAAAGAAACTAATCT	0.353																																					p.S673Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2018A	1						.						89.0	83.0	85.0					1																	68944921		2203	4300	6503	68717509	SO:0001583	missense	55635	exon10			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2018C>A	1.37:g.68944921G>T	ENSP00000412292:p.Ser673Tyr		68717509	NM_001114120	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711253	0.89112	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.54279	0.58;0.58	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.098933	0.64402	D	0.000001	T	0.66867	0.2833	M	0.73598	2.24	0.45366	D	0.998354	D;D	0.89917	0.999;1.0	D;D	0.87578	0.989;0.998	T	0.60203	-0.7309	10	0.23302	T	0.38	-0.0178	19.76	0.96311	0.0:0.0:1.0:0.0	.	673;389	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	Y	673;389	ENSP00000412292:S673Y;ENSP00000360005:S389Y	ENSP00000360005:S389Y	S	-	2	0	DEPDC1	68717509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.824000	0.92023	2.670000	0.90874	0.585000	0.79938	TCT		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779	
LRRC7	57554	broad.mit.edu	37	1	70225939	70225939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70225939C>T	ENST00000035383.5	+	1	82	c.52C>T	c.(52-54)Cga>Tga	p.R18*	LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R56*|LRRC7_ENST00000310961.5_Nonsense_Mutation_p.R23*|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	18						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R18*(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGATGTTTCCGAGGTGAAGA	0.463																																					p.R18X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C52T	1						.						55.0	55.0	55.0					1																	70225939		2203	4299	6502	69998527	SO:0001587	stop_gained	57554	exon1				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.52C>T	1.37:g.70225939C>T	ENSP00000035383:p.Arg18*		69998527	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Nonsense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	41	9.052384	0.99050	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8425	0.92189	0.0:1.0:0.0:0.0	.	.	.	.	X	23;56;18;18	.	ENSP00000035383:R18X	R	+	1	2	LRRC7	69998527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	CGA		0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70504334	70504334	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70504334C>A	ENST00000035383.5	+	19	2743	c.2713C>A	c.(2713-2715)Ctt>Att	p.L905I	LRRC7_ENST00000310961.5_Missense_Mutation_p.L910I|LRRC7_ENST00000415775.2_Missense_Mutation_p.L189I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	905						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L905I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAACAGGAGTCTTAGTAATGT	0.418																																					p.L905I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2713A	1						.						62.0	61.0	61.0					1																	70504334		2203	4300	6503	70276922	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2713C>A	1.37:g.70504334C>A	ENSP00000035383:p.Leu905Ile		70276922	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511909	0.27036	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37752	1.18;1.25;2.35	5.82	5.82	0.92795	.	0.154968	0.44285	D	0.000467	T	0.14098	0.0341	L	0.44542	1.39	0.30817	N	0.738186	B;P;P	0.38078	0.314;0.617;0.483	B;B;B	0.30855	0.075;0.121;0.057	T	0.11299	-1.0593	10	0.21014	T	0.42	.	13.9849	0.64328	0.1513:0.8487:0.0:0.0	.	189;905;905	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	I	910;905;189;728	ENSP00000309245:L910I;ENSP00000035383:L905I;ENSP00000394867:L189I	ENSP00000035383:L905I	L	+	1	0	LRRC7	70276922	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	4.416000	0.59815	2.762000	0.94881	0.467000	0.42956	CTT		0.418	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70505471	70505471	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70505471G>T	ENST00000035383.5	+	19	3880	c.3850G>T	c.(3850-3852)Gac>Tac	p.D1284Y	LRRC7_ENST00000310961.5_Missense_Mutation_p.D1289Y|LRRC7_ENST00000415775.2_Missense_Mutation_p.D568Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1284						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D1284Y(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGACGGTTAGACAGGGTATG	0.448																																					p.D1284Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3850T	1						.						91.0	91.0	91.0					1																	70505471		2203	4300	6503	70278059	SO:0001583	missense	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3850G>T	1.37:g.70505471G>T	ENSP00000035383:p.Asp1284Tyr		70278059	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093490	0.56075	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.43688	1.01;0.94;2.01	6.16	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	N	0.19112	0.55	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.75484	0.986;0.875;0.921	T	0.51180	-0.8738	10	0.87932	D	0	.	14.6377	0.68702	0.0689:0.0:0.9311:0.0	.	568;1284;1284	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	Y	1289;1284;568;1107	ENSP00000309245:D1289Y;ENSP00000035383:D1284Y;ENSP00000394867:D568Y	ENSP00000035383:D1284Y	D	+	1	0	LRRC7	70278059	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.328000	0.96403	1.632000	0.50472	-0.142000	0.14014	GAC		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70541809	70541809	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70541809G>A	ENST00000035383.5	+	22	4196	c.4166G>A	c.(4165-4167)cGc>cAc	p.R1389H	LRRC7_ENST00000310961.5_Missense_Mutation_p.R1347H|LRRC7_ENST00000415775.2_Missense_Mutation_p.R673H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1389						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R1389H(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTTCAGCATCGCAGCCGGGAG	0.507																																					p.R1389H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4166A	1						.						63.0	59.0	61.0					1																	70541809		2203	4300	6503	70314397	SO:0001583	missense	57554	exon22				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4166G>A	1.37:g.70541809G>A	ENSP00000035383:p.Arg1389His		70314397	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323222	0.60634	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38240	1.15;1.24;2.34	5.86	5.86	0.93980	.	0.061993	0.64402	D	0.000007	T	0.26629	0.0651	L	0.27053	0.805	0.38717	D	0.953366	D;B;B	0.64830	0.994;0.119;0.035	P;B;B	0.52672	0.706;0.027;0.003	T	0.01413	-1.1361	10	0.15952	T	0.53	.	19.1705	0.93575	0.0:0.0:1.0:0.0	.	673;1342;1389	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	H	1347;1389;673;1165	ENSP00000309245:R1347H;ENSP00000035383:R1389H;ENSP00000394867:R673H	ENSP00000035383:R1389H	R	+	2	0	LRRC7	70314397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.501000	0.81600	2.771000	0.95319	0.650000	0.86243	CGC		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC40	55631	broad.mit.edu	37	1	70618192	70618192	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70618192C>T	ENST00000370952.3	-	12	1442	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	455						membrane (GO:0016020)		p.D455N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AAACTGAGATCGACATCAGAA	0.318																																					p.D455N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1363A	1						.						74.0	73.0	73.0					1																	70618192		2203	4292	6495	70390780	SO:0001583	missense	55631	exon12				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1363G>A	1.37:g.70618192C>T	ENSP00000359990:p.Asp455Asn		70390780	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287591	0.10513	.	.	ENSG00000066557	ENST00000370952	T	0.54866	0.55	5.45	4.32	0.51571	.	0.043959	0.85682	N	0.000000	T	0.07638	0.0192	N	0.01686	-0.76	0.23351	N	0.997856	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	10	0.06891	T	0.86	.	11.4951	0.50404	0.0:0.071:0.0:0.929	.	455	Q9H9A6	LRC40_HUMAN	N	455	ENSP00000359990:D455N	ENSP00000359990:D455N	D	-	1	0	LRRC40	70390780	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.651000	0.61447	0.894000	0.36317	-0.295000	0.09555	GAT		0.318	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
LRRC40	55631	broad.mit.edu	37	1	70639162	70639162	+	Missense_Mutation	SNP	C	C	T	rs138941894	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70639162C>T	ENST00000370952.3	-	9	1176	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	366						membrane (GO:0016020)		p.R366Q(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GATCTTGCTTCGTAGATATTT	0.318													C|||	4	0.000798722	0.0008	0.0	5008	,	,		17723	0.002		0.001	False		,,,				2504	0.0				p.R366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	1						.	C	GLN/ARG	0,4406		0,0,2203	62.0	62.0	62.0		1097	3.8	1.0	1	dbSNP_134	62	5,8585	4.3+/-15.6	0,5,4290	yes	missense	LRRC40	NM_017768.4	43	0,5,6493	TT,TC,CC		0.0582,0.0,0.0385	benign	366/603	70639162	5,12991	2203	4295	6498	70411750	SO:0001583	missense	55631	exon9				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1097G>A	1.37:g.70639162C>T	ENSP00000359990:p.Arg366Gln		70411750	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	14.17	2.456399	0.43634	0.0	5.82E-4	ENSG00000066557	ENST00000370952	T	0.36699	1.24	5.64	3.8	0.43715	.	0.101283	0.64402	N	0.000003	T	0.14700	0.0355	M	0.76433	2.335	0.40923	D	0.984325	P	0.34662	0.462	B	0.24269	0.052	T	0.06899	-1.0801	10	0.11794	T	0.64	.	9.5161	0.39106	0.0:0.7819:0.0:0.2181	.	366	Q9H9A6	LRC40_HUMAN	Q	366	ENSP00000359990:R366Q	ENSP00000359990:R366Q	R	-	2	0	LRRC40	70411750	0.999000	0.42202	0.955000	0.39395	0.985000	0.73830	1.760000	0.38430	0.758000	0.33059	-0.254000	0.11334	CGA		0.318	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
LRRC40	55631	broad.mit.edu	37	1	70641656	70641656	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70641656C>T	ENST00000370952.3	-	7	893	c.814G>A	c.(814-816)Gta>Ata	p.V272I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	272						membrane (GO:0016020)		p.V272I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTTTCACCTACGTGCAATTCC	0.313																																					p.V272I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	1						.						94.0	92.0	93.0					1																	70641656		2203	4299	6502	70414244	SO:0001583	missense	55631	exon7				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.814G>A	1.37:g.70641656C>T	ENSP00000359990:p.Val272Ile		70414244	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	3.663	-0.069023	0.07228	.	.	ENSG00000066557	ENST00000370952	T	0.53857	0.6	5.53	-2.58	0.06228	.	0.674999	0.14834	N	0.295670	T	0.06325	0.0163	N	0.02334	-0.595	0.22737	N	0.998799	B	0.13594	0.008	B	0.12156	0.007	T	0.31166	-0.9953	10	0.32370	T	0.25	.	1.611	0.02693	0.2138:0.3932:0.2079:0.1851	.	272	Q9H9A6	LRC40_HUMAN	I	272	ENSP00000359990:V272I	ENSP00000359990:V272I	V	-	1	0	LRRC40	70414244	0.704000	0.27836	0.415000	0.26534	0.523000	0.34469	0.546000	0.23284	-0.493000	0.06678	-1.051000	0.02340	GTA		0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
HHLA3	11147	broad.mit.edu	37	1	70820780	70820780	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70820780T>G	ENST00000359875.5	+	1	286	c.146T>G	c.(145-147)cTa>cGa	p.L49R	HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000361764.4_Missense_Mutation_p.L49R|HHLA3_ENST00000531950.1_Missense_Mutation_p.L49R|HHLA3_ENST00000370940.5_Missense_Mutation_p.L49R|HHLA3_ENST00000432224.1_Missense_Mutation_p.L49R|ANKRD13C_ENST00000262346.6_5'Flank|ANKRD13C_ENST00000370944.4_5'Flank	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	49								p.L49R(1)		large_intestine(3)|lung(1)	4						actgagcatctacttcgtgcc	0.493																																					p.L49R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T146G	1						.						107.0	81.0	90.0					1																	70820780		2203	4300	6503	70593368	SO:0001583	missense	11147	exon1			AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.146T>G	1.37:g.70820780T>G	ENSP00000352938:p.Leu49Arg		70593368	NM_001036645	D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	37	CCDS30753.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.322975	0.41096	.	.	ENSG00000197568	ENST00000361764;ENST00000359875;ENST00000370940;ENST00000531950;ENST00000432224	.	.	.	4.05	2.89	0.33648	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	P;P;P	0.50943	0.582;0.94;0.94	B;P;P	0.54100	0.422;0.534;0.742	T	0.05146	-1.0903	8	0.87932	D	0	.	7.7885	0.29106	0.0:0.0:0.2113:0.7887	.	49;49;49	Q9XRX5-2;Q9XRX5-3;Q9XRX5	.;.;HHLA3_HUMAN	R	49	.	ENSP00000352938:L49R	L	+	2	0	HHLA3	70593368	0.001000	0.12720	0.025000	0.17156	0.300000	0.27592	0.151000	0.16283	0.859000	0.35456	0.397000	0.26171	CTA		0.493	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071	
CTH	1491	broad.mit.edu	37	1	70900841	70900841	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:70900841G>A	ENST00000370938.3	+	10	1177	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	CTH_ENST00000346806.2_Missense_Mutation_p.E301K|CTH_ENST00000411986.2_Missense_Mutation_p.E313K	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.E345K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGAGGATTCGAAAGCCTTGC	0.313																																					p.E301K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901A	1						.						84.0	81.0	82.0					1																	70900841		2203	4300	6503	70673429	SO:0001583	missense	1491	exon9			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.1033G>A	1.37:g.70900841G>A	ENSP00000359976:p.Glu345Lys		70673429	NM_153742	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829668	0.91036	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.83419	-1.72;-1.72;-1.72	5.24	5.24	0.73138	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.099858	0.64402	D	0.000002	D	0.88998	0.6590	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.954;0.923;0.996	D	0.89587	0.3825	10	0.87932	D	0	-26.6945	18.8687	0.92303	0.0:0.0:1.0:0.0	.	313;301;345	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	K	313;345;301	ENSP00000413407:E313K;ENSP00000359976:E345K;ENSP00000311554:E301K	ENSP00000311554:E301K	E	+	1	0	CTH	70673429	1.000000	0.71417	0.950000	0.38849	0.758000	0.43043	8.820000	0.92003	2.651000	0.90000	0.650000	0.86243	GAA		0.313	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	
PTGER3	5733	broad.mit.edu	37	1	71478068	71478068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:71478068G>T	ENST00000306666.5	-	2	1207	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	PTGER3_ENST00000356595.4_Missense_Mutation_p.R333S|PTGER3_ENST00000354608.5_Missense_Mutation_p.R333S|PTGER3_ENST00000414819.1_Missense_Mutation_p.R333S|PTGER3_ENST00000370932.2_Missense_Mutation_p.R333S|PTGER3_ENST00000460330.1_Missense_Mutation_p.R333S|PTGER3_ENST00000370924.4_Missense_Mutation_p.R333S|PTGER3_ENST00000351052.5_Missense_Mutation_p.R333S|PTGER3_ENST00000370931.3_Missense_Mutation_p.R333S	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	333					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.R333S(1)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GAAGCCAGGCGAACAGCTATT	0.428																																					p.R333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997A	1						.						114.0	108.0	110.0					1																	71478068		2203	4300	6503	71250656	SO:0001583	missense	5733	exon2			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.997C>A	1.37:g.71478068G>T	ENSP00000302313:p.Arg333Ser		71250656	NM_198715	B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	CCDS657.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852394	0.91355	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.103731	0.64402	N	0.000002	D	0.85062	0.5611	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;0.997;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;D	0.97110	1.0;1.0;0.878;0.925;1.0;0.999;0.999;1.0	D	0.84641	0.0695	10	0.41790	T	0.15	-25.8093	19.3057	0.94161	0.0:0.0:1.0:0.0	.	333;333;333;333;333;333;333;333	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	S	333	ENSP00000359969:R333S;ENSP00000359970:R333S;ENSP00000280208:R333S;ENSP00000418073:R333S;ENSP00000346624:R333S;ENSP00000349003:R333S;ENSP00000401423:R333S;ENSP00000302313:R333S;ENSP00000359962:R333S	ENSP00000302313:R333S	R	-	1	0	PTGER3	71250656	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.101000	0.94219	2.669000	0.90835	0.491000	0.48974	CGC		0.428	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	
LRRIQ3	127255	broad.mit.edu	37	1	74506922	74506922	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74506922A>C	ENST00000395089.1	-	6	1692	c.1693T>G	c.(1693-1695)Tta>Gta	p.L565V	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L565V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	565								p.L565V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCTTTAAGTAAATTCTTTCTA	0.294																																					p.L565V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1693G	1						.						42.0	39.0	40.0					1																	74506922		1791	4052	5843	74279510	SO:0001583	missense	127255	exon7			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1693T>G	1.37:g.74506922A>C	ENSP00000378524:p.Leu565Val		74279510	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890893	0.33348	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.18016	2.24;2.24	5.86	3.41	0.39046	.	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	P	0.36392	0.551	B	0.33960	0.173	T	0.30563	-0.9974	9	0.72032	D	0.01	.	5.6879	0.17813	0.743:0.1708:0.0862:0.0	.	565	A6PVS8	LRIQ3_HUMAN	V	565	ENSP00000378524:L565V;ENSP00000346414:L565V	ENSP00000346414:L565V	L	-	1	2	LRRIQ3	74279510	0.024000	0.19004	0.072000	0.20136	0.061000	0.15899	0.500000	0.22562	1.148000	0.42385	0.528000	0.53228	TTA		0.294	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
LRRIQ3	127255	broad.mit.edu	37	1	74648365	74648365	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74648365G>T	ENST00000395089.1	-	2	429	c.430C>A	c.(430-432)Ctt>Att	p.L144I	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.L144I|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L144I|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	144	LRRCT.							p.L144I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGTTAACAAGAACATGTCTA	0.368																																					p.L144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430A	1						.						121.0	116.0	118.0					1																	74648365		2203	4298	6501	74420953	SO:0001583	missense	127255	exon3			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.430C>A	1.37:g.74648365G>T	ENSP00000378524:p.Leu144Ile		74420953	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978909	0.34942	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.23348	1.91;1.91;1.91	5.65	1.32	0.21799	.	0.449046	0.20625	N	0.088697	T	0.05318	0.0141	N	0.22421	0.69	0.26022	N	0.98186	P	0.35328	0.495	B	0.31547	0.132	T	0.27706	-1.0066	10	0.38643	T	0.18	.	8.4179	0.32683	0.0:0.4449:0.2883:0.2667	.	144	A6PVS8	LRIQ3_HUMAN	I	144	ENSP00000378524:L144I;ENSP00000346414:L144I;ENSP00000359948:L144I	ENSP00000346414:L144I	L	-	1	0	LRRIQ3	74420953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.037000	0.30241	0.694000	0.31654	0.650000	0.86243	CTT		0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
FPGT	8790	broad.mit.edu	37	1	74671445	74671445	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74671445G>T	ENST00000609362.1	+	4	1751	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	FPGT_ENST00000370898.3_Missense_Mutation_p.D585Y|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000534056.1_Missense_Mutation_p.D318Y|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	572					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.D572Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TATCTACAAAGATGTAGAAGA	0.308																																					p.D318Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G952T	1						.						53.0	51.0	52.0					1																	74671445		2203	4300	6503	74444033	SO:0001583	missense	8790	exon5			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1714G>T	1.37:g.74671445G>T	ENSP00000476680:p.Asp572Tyr		74444033	NM_001199328	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705923	0.30232	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.59906	0.98;0.23	4.83	4.83	0.62350	.	.	.	.	.	T	0.38480	0.1042	L	0.41824	1.3	0.80722	D	1	P;B;B	0.42409	0.779;0.149;0.399	B;B;B	0.36719	0.197;0.061;0.231	T	0.51060	-0.8753	9	0.66056	D	0.02	.	17.9148	0.88945	0.0:0.0:1.0:0.0	.	318;197;572	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	Y	572;318	ENSP00000359935:D572Y;ENSP00000432819:D318Y	ENSP00000359935:D572Y	D	+	1	0	TNNI3K	74444033	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.731000	0.68554	2.219000	0.72066	0.563000	0.77884	GAT		0.308	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74797179	74797179	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74797179G>T	ENST00000370899.3	+	8	830	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	TNNI3K_ENST00000370891.2_Missense_Mutation_p.D265Y|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D164Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D278Y|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.D265Y	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.D164Y(1)									CAATATTCAAGATGCAGTTTT	0.388																																					p.D265Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793T	1						.						132.0	108.0	116.0					1																	74797179		2203	4300	6503	74569767	SO:0001583	missense	51086	exon8					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.793G>T	1.37:g.74797179G>T	ENSP00000359936:p.Asp265Tyr		74569767	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980229	0.74474	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.57757	-0.7756	10	0.62326	D	0.03	.	19.0662	0.93113	0.0:0.0:1.0:0.0	.	164;265;265;265	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	Y	265;265;265;265;164	ENSP00000359936:D265Y;ENSP00000359932:D265Y;ENSP00000450895:D265Y;ENSP00000359928:D265Y;ENSP00000322251:D164Y	ENSP00000322251:D164Y	D	+	1	0	RP11-653A5.2;AC093158.1	74569767	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	6.959000	0.76031	2.836000	0.97738	0.655000	0.94253	GAT		0.388	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808571	74808571	+	Missense_Mutation	SNP	C	C	A	rs201060802		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74808571C>A	ENST00000370899.3	+	10	1068	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	TNNI3K_ENST00000370891.2_Missense_Mutation_p.S344Y|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.S243Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S357Y|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.S344Y	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.S243Y(1)									CATTTCTGTTCTCGATTTGGA	0.368																																					p.S344Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031A	1						.						192.0	178.0	182.0					1																	74808571		2203	4300	6503	74581159	SO:0001583	missense	51086	exon10					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1031C>A	1.37:g.74808571C>A	ENSP00000359936:p.Ser344Tyr		74581159	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	C	17.27	3.345854	0.61073	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.65732	-0.17;-0.17;-0.07;-0.07;-0.17	5.02	4.1	0.47936	Ankyrin repeat-containing domain (4);	0.239804	0.43747	D	0.000522	T	0.69278	0.3093	M	0.89287	3.02	0.37121	D	0.900809	P;P;P;P	0.49783	0.928;0.904;0.904;0.904	P;P;P;P	0.51135	0.544;0.66;0.461;0.461	T	0.79127	-0.1931	10	0.87932	D	0	.	15.4782	0.75501	0.0:0.7393:0.2606:0.0	.	243;344;344;344	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	Y	344;344;344;344;243	ENSP00000359936:S344Y;ENSP00000359932:S344Y;ENSP00000450895:S344Y;ENSP00000359928:S344Y;ENSP00000322251:S243Y	ENSP00000322251:S243Y	S	+	2	0	RP11-653A5.2;AC093158.1	74581159	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.339000	0.59322	1.353000	0.45828	-0.172000	0.13284	TCT		0.368	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833629	74833629	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74833629G>T	ENST00000370899.3	+	15	1642	c.1605G>T	c.(1603-1605)aaG>aaT	p.K535N	TNNI3K_ENST00000370891.2_Missense_Mutation_p.K535N|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.K434N|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.K548N|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.K535N	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.K434N(1)									CCTTGGGGAAGATTAAAAGCA	0.289																																					p.K535N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1605T	1						.						67.0	69.0	68.0					1																	74833629		2203	4298	6501	74606217	SO:0001583	missense	51086	exon15					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1605G>T	1.37:g.74833629G>T	ENSP00000359936:p.Lys535Asn		74606217	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709940	0.68730	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.75260	-0.92;-0.65;-0.91;-0.91;-0.9	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	N	0.24115	0.695	0.48236	D	0.999618	P;D;D;D	0.61697	0.956;0.988;0.988;0.99	P;P;P;P	0.58721	0.63;0.844;0.844;0.844	T	0.61402	-0.7070	10	0.23891	T	0.37	.	9.2416	0.37500	0.2142:0.0:0.7858:0.0	.	434;535;535;535	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	N	535;535;156;535;535;434	ENSP00000359936:K535N;ENSP00000359932:K535N;ENSP00000450895:K535N;ENSP00000359928:K535N;ENSP00000322251:K434N	ENSP00000322251:K434N	K	+	3	2	RP11-653A5.2;AC093158.1	74606217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.228000	0.42981	1.513000	0.48852	0.650000	0.86243	AAG		0.289	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74836063	74836063	+	Missense_Mutation	SNP	C	C	T	rs200254775		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:74836063C>T	ENST00000370899.3	+	19	2099	c.2062C>T	c.(2062-2064)Cgt>Tgt	p.R688C	TNNI3K_ENST00000370891.2_Missense_Mutation_p.R688C|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R587C|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R701C|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R688C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R587C(1)									AATTATACATCGTGACTTGAA	0.348																																					p.R688C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2062T	1						.						93.0	90.0	91.0					1																	74836063		2203	4299	6502	74608651	SO:0001583	missense	51086	exon19					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2062C>T	1.37:g.74836063C>T	ENSP00000359936:p.Arg688Cys		74608651	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131022	0.77549	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.76	4.82	0.62117	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	D	0.94172	0.7424	10	0.87932	D	0	.	16.2429	0.82424	0.1332:0.8668:0.0:0.0	.	587;688;688;688	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	688;688;688;688;587;111	ENSP00000359936:R688C;ENSP00000359932:R688C;ENSP00000450895:R688C;ENSP00000359928:R688C;ENSP00000322251:R587C;ENSP00000434975:R111C	ENSP00000322251:R587C	R	+	1	0	RP11-653A5.2;AC093158.1	74608651	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.584000	0.36589	2.724000	0.93272	0.650000	0.86243	CGT		0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
ERICH3	127254	broad.mit.edu	37	1	75036861	75036861	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75036861C>T	ENST00000326665.5	-	14	4751	c.4533G>A	c.(4531-4533)caG>caA	p.Q1511Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1511								p.Q1511Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACCATATGCTGTTGCTTCT	0.507																																					p.Q1511Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4533A	1						.						191.0	186.0	187.0					1																	75036861		2203	4300	6503	74809449	SO:0001819	synonymous_variant	127254	exon14																														ENST00000326665.5:c.4533G>A	1.37:g.75036861C>T			74809449	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.507	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75055381	75055381	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75055381G>A	ENST00000326665.5	-	12	2328	c.2110C>T	c.(2110-2112)Ctt>Ttt	p.L704F	C1orf173_ENST00000420661.2_Missense_Mutation_p.L507F|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		704	Glu-rich.							p.L704F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTCCCAAAGCTTACTCTTA	0.478																																					p.L704F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2110T	1						.						250.0	240.0	243.0					1																	75055381		2203	4300	6503	74827969	SO:0001583	missense	127254	exon12																														ENST00000326665.5:c.2110C>T	1.37:g.75055381G>A	ENSP00000322609:p.Leu704Phe		74827969	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	8.492	0.862264	0.17178	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.21932	2.49;1.98	5.44	3.53	0.40419	.	.	.	.	.	T	0.10981	0.0268	L	0.34521	1.04	0.21762	N	0.999557	P;P	0.50272	0.846;0.933	P;P	0.50352	0.563;0.638	T	0.08046	-1.0741	9	0.56958	D	0.05	-3.9226	8.9514	0.35792	0.0:0.1624:0.6688:0.1688	.	507;704	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	F	704;507	ENSP00000322609:L704F;ENSP00000398581:L507F	ENSP00000322609:L704F	L	-	1	0	C1orf173	74827969	0.215000	0.23574	0.664000	0.29753	0.024000	0.10985	0.463000	0.21972	0.629000	0.30376	-0.165000	0.13383	CTT		0.478	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75112440	75112440	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75112440A>G	ENST00000326665.5	-	3	372	c.154T>C	c.(154-156)Tat>Cat	p.Y52H		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		52								p.Y52H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTAGTTTATATTCTTTTTCA	0.284																																					p.Y52H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T154C	1						.						28.0	26.0	26.0					1																	75112440		2108	4152	6260	74885028	SO:0001583	missense	127254	exon3																														ENST00000326665.5:c.154T>C	1.37:g.75112440A>G	ENSP00000322609:p.Tyr52His		74885028	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985821	0.74589	.	.	ENSG00000178965	ENST00000326665	T	0.20332	2.08	5.71	5.71	0.89125	.	.	.	.	.	T	0.34337	0.0894	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13282	-1.0515	9	0.87932	D	0	-10.4151	14.9681	0.71210	1.0:0.0:0.0:0.0	.	52	Q5RHP9	CA173_HUMAN	H	52	ENSP00000322609:Y52H	ENSP00000322609:Y52H	Y	-	1	0	C1orf173	74885028	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.318000	0.72866	2.179000	0.69175	0.528000	0.53228	TAT		0.284	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
CRYZ	1429	broad.mit.edu	37	1	75185051	75185051	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75185051A>C	ENST00000340866.5	-	4	357	c.270T>G	c.(268-270)ggT>ggG	p.G90G	CRYZ_ENST00000370871.3_Silent_p.G90G|CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000417775.1_Silent_p.G90G	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	90					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.G90G(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	AAACTCTGTCACCTTTCTAGG	0.373																																					p.G90G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T270G	1						.						67.0	65.0	65.0					1																	75185051		2203	4300	6503	74957639	SO:0001819	synonymous_variant	1429	exon4				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.270T>G	1.37:g.75185051A>C			74957639	NM_001889	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Silent	SNP	ENST00000340866.5	37	CCDS665.1																																																																																				0.373	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1		
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75683626C>A	ENST00000370855.5	-	18	1662	c.1549G>T	c.(1549-1551)Gca>Tca	p.A517S	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A387S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A517S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	517					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289																																					p.A517S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1549T	1						.						49.0	53.0	52.0					1																	75683626		2203	4299	6502	75456214	SO:0001583	missense	204962	exon18			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1549G>T	1.37:g.75683626C>A	ENSP00000359892:p.Ala517Ser		75456214	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110671	0.94292	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.29917	1.55;1.55;1.55	5.93	5.93	0.95920	.	0.105434	0.64402	D	0.000004	T	0.60301	0.2258	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D	0.89917	0.988;0.999;0.998;1.0;0.999	D;D;D;D;D	0.85130	0.989;0.994;0.989;0.997;0.99	T	0.66252	-0.5970	10	0.87932	D	0	-18.1034	20.3261	0.98701	0.0:1.0:0.0:0.0	.	511;556;517;517;556	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	517;556;517;387;510	ENSP00000359896:A517S;ENSP00000359892:A517S;ENSP00000443090:A387S	ENSP00000359892:A517S	A	-	1	0	SLC44A5	75456214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.814000	0.96858	0.655000	0.94253	GCA		0.289	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
SLC44A5	204962	broad.mit.edu	37	1	75685020	75685020	+	Silent	SNP	C	C	T	rs531608712		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000535611.1_Silent_p.A266A|SLC44A5_ENST00000370859.3_Silent_p.A396A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		17200	0.0		0.0	False		,,,				2504	0.001				p.A396A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1188A	1						.						89.0	83.0	85.0					1																	75685020		2203	4300	6503	75457608	SO:0001819	synonymous_variant	204962	exon16			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1188G>A	1.37:g.75685020C>T			75457608	NM_152697	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	CCDS667.1																																																																																				0.393	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697	
ACADM	34	broad.mit.edu	37	1	76198600	76198600	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:76198600G>T	ENST00000370841.4	+	4	716	c.279G>T	c.(277-279)gaG>gaT	p.E93D	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.E57D|ACADM_ENST00000420607.2_Missense_Mutation_p.E97D|ACADM_ENST00000370834.5_Missense_Mutation_p.E93D	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	93					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.E93D(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	ACATTCCAGAGAACTGTGGTA	0.323																																					p.E93D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	1						.						61.0	67.0	65.0					1																	76198600		2201	4297	6498	75971188	SO:0001583	missense	34	exon4			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.279G>T	1.37:g.76198600G>T	ENSP00000359878:p.Glu93Asp		75971188	NM_000016	Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013721	0.35511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97	5.28	1.14	0.20703	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.102529	0.64402	D	0.000004	D	0.99563	0.9843	M	0.90198	3.095	0.80722	D	1	B;B;P;B;B;B	0.50528	0.064;0.016;0.936;0.268;0.046;0.057	B;B;P;B;B;B	0.53185	0.09;0.083;0.72;0.371;0.099;0.159	D	0.99912	1.1205	10	0.72032	D	0.01	.	7.6362	0.28267	0.5866:0.0:0.4134:0.0	.	57;7;93;93;97;93	B7Z9I1;B4DVE0;E9PJM9;Q5T4U5;P11310-2;P11310	.;.;.;.;.;ACADM_HUMAN	D	93;93;57;97	ENSP00000359878:E93D;ENSP00000359871:E93D;ENSP00000442324:E57D;ENSP00000409612:E97D	ENSP00000359871:E93D	E	+	3	2	ACADM	75971188	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.436000	0.34980	0.181000	0.19994	0.591000	0.81541	GAG		0.323	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
ACADM	34	broad.mit.edu	37	1	76226906	76226906	+	Nonsense_Mutation	SNP	C	C	T	rs148207467		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:76226906C>T	ENST00000370841.4	+	11	1482	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.R160*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.R313*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.R353*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.R382*|ACADM_ENST00000481374.1_3'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	349					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)	p.R349*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TTCTGGTCGTCGAAATACCTA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0				p.R349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1045T	1	GRCh37	CM940004	ACADM	M	rs148207467	.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	137.0	138.0		1045,1057	4.4	1.0	1	dbSNP_134	138	0,8600		0,0,4300	no	stop-gained,stop-gained	ACADM	NM_000016.4,NM_001127328.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	349/422,353/426	76226906	1,13005	2203	4300	6503	75999494	SO:0001587	stop_gained	34	exon11			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1045C>T	1.37:g.76226906C>T	ENSP00000359878:p.Arg349*		75999494	NM_000016	Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	CCDS668.1	.	.	.	.	.	.	.	.	.	.	C	39	7.316268	0.98207	2.27E-4	0.0	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	.	.	.	5.3	4.36	0.52297	.	0.052292	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	11.7756	0.51983	0.43:0.57:0.0:0.0	.	.	.	.	X	349;382;313;160;353	.	ENSP00000359871:R382X	R	+	1	2	ACADM	75999494	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.507000	0.45442	1.318000	0.45170	0.655000	0.94253	CGA		0.413	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1		
RABGGTB	5876	broad.mit.edu	37	1	76257887	76257887	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:76257887C>A	ENST00000319942.3	+	7	672	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_Missense_Mutation_p.L27M	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	201					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.L201M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CACAGGATTTCTGGCAATTAC	0.353																																					p.L201M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C601A	1						.						64.0	63.0	64.0					1																	76257887		2203	4300	6503	76030475	SO:0001583	missense	5876	exon7			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.601C>A	1.37:g.76257887C>A	ENSP00000317473:p.Leu201Met		76030475	NM_004582	Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	CCDS669.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772146	0.69992	.	.	ENSG00000137955	ENST00000535300;ENST00000319942;ENST00000370824	T;T	0.69685	-0.42;-0.42	5.58	4.67	0.58626	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.91090	3.175	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.84080	0.0384	10	0.66056	D	0.02	-23.3431	10.6412	0.45594	0.0:0.8536:0.0:0.1464	.	201;201	Q59GT6;P53611	.;PGTB2_HUMAN	M	27;201;201	ENSP00000440452:L27M;ENSP00000317473:L201M	ENSP00000317473:L201M	L	+	1	2	RABGGTB	76030475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.697000	0.37784	1.360000	0.45960	0.561000	0.74099	CTG		0.353	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582	
ST6GALNAC3	256435	broad.mit.edu	37	1	76877856	76877856	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:76877856G>A	ENST00000328299.3	+	3	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	126					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R126Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACCATGATTCGAGTTGTGTCC	0.433																																					p.R126Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	1						.						132.0	124.0	126.0					1																	76877856		2203	4300	6503	76650444	SO:0001583	missense	256435	exon3				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.377G>A	1.37:g.76877856G>A	ENSP00000329214:p.Arg126Gln		76650444	NM_152996	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565048	0.96527	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.35048	1.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.992	T	0.67114	-0.5752	10	0.87932	D	0	-14.4154	19.8676	0.96824	0.0:0.0:1.0:0.0	.	61;126;126	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	Q	126;126;125;60	ENSP00000329214:R126Q	ENSP00000329214:R126Q	R	+	2	0	ST6GALNAC3	76650444	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CGA		0.433	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
ST6GALNAC5	81849	broad.mit.edu	37	1	77528888	77528888	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:77528888C>A	ENST00000477717.1	+	5	1243	c.1008C>A	c.(1006-1008)ttC>ttA	p.F336L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	336					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.F336L(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AACCTGTGTTCTAAGGAATGA	0.433																																					p.F336L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1008A	1						.						78.0	73.0	74.0					1																	77528888		2203	4300	6503	77301476	SO:0001583	missense	81849	exon5				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.1008C>A	1.37:g.77528888C>A	ENSP00000417583:p.Phe336Leu		77301476	NM_030965	B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457778	0.63401	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31510	1.49	5.93	5.0	0.66597	.	0.237399	0.43579	D	0.000544	T	0.10508	0.0257	L	0.36672	1.1	0.47094	D	0.999313	B	0.09022	0.002	B	0.08055	0.003	T	0.08371	-1.0725	10	0.10377	T	0.69	-44.3963	14.275	0.66175	0.0:0.926:0.0:0.074	.	336	Q9BVH7	SIA7E_HUMAN	L	336;246	ENSP00000417583:F336L	ENSP00000406658:F246L	F	+	3	2	ST6GALNAC5	77301476	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	1.224000	0.32539	1.448000	0.47680	0.655000	0.94253	TTC		0.433	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
PIGK	10026	broad.mit.edu	37	1	77627340	77627340	+	Missense_Mutation	SNP	C	C	T	rs140360373		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:77627340C>T	ENST00000370812.3	-	7	664	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	PIGK_ENST00000445065.1_Missense_Mutation_p.R120Q|PIGK_ENST00000359130.1_Missense_Mutation_p.R214Q|PIGK_ENST00000370813.5_Missense_Mutation_p.R138Q|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	214					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.R214Q(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGAATAAAATCGTTCATACAT	0.373																																					p.R214Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	1						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	101.0	104.0		641	4.6	1.0	1	dbSNP_134	104	0,8600		0,0,4300	no	missense	PIGK	NM_005482.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	214/396	77627340	1,13005	2203	4300	6503	77399928	SO:0001583	missense	10026	exon7			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.641G>A	1.37:g.77627340C>T	ENSP00000359848:p.Arg214Gln		77399928	NM_005482	B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103317	0.56183	2.27E-4	0.0	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.63	4.63	0.57726	.	0.062525	0.64402	D	0.000006	T	0.19967	0.0480	L	0.49350	1.555	0.53688	D	0.999976	B;B;B;B	0.24368	0.094;0.094;0.102;0.063	B;B;B;B	0.21708	0.036;0.036;0.026;0.015	T	0.03493	-1.1031	10	0.17369	T	0.5	-21.0062	11.5412	0.50667	0.0:0.9184:0.0:0.0816	.	138;120;214;214	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	Q	214;120;138;214	ENSP00000359848:R214Q;ENSP00000388854:R120Q;ENSP00000359849:R138Q;ENSP00000352041:R214Q	ENSP00000352041:R214Q	R	-	2	0	PIGK	77399928	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	5.580000	0.67464	2.560000	0.86352	0.650000	0.86243	CGA		0.373	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482	
AK5	26289	broad.mit.edu	37	1	77759507	77759507	+	Missense_Mutation	SNP	C	C	T	rs371926363		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:77759507C>T	ENST00000354567.2	+	3	540	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	AK5_ENST00000317704.4_Intron|AK5_ENST00000344720.5_Missense_Mutation_p.R67W	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	93					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.R93W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTTTCCATATCGGCGGTATGA	0.393																																					p.R67W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	1						.	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	66.0	64.0		199,277	5.3	1.0	1		64	0,8600		0,0,4300	no	missense,missense	AK5	NM_012093.3,NM_174858.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	67/537,93/563	77759507	1,13005	2203	4300	6503	77532095	SO:0001583	missense	26289	exon3			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.277C>T	1.37:g.77759507C>T	ENSP00000346577:p.Arg93Trp		77532095	NM_012093	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493657	0.84962	2.27E-4	0.0	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84873	-0.87;-0.88;-1.91	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.87549	0.6205	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88956	0.3390	10	0.87932	D	0	-0.1	19.2875	0.94084	0.0:1.0:0.0:0.0	.	93	Q9Y6K8	KAD5_HUMAN	W	93;67;67	ENSP00000346577:R93W;ENSP00000341430:R67W;ENSP00000434409:R67W	ENSP00000341430:R67W	R	+	1	2	AK5	77532095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.799000	0.69101	2.645000	0.89757	0.561000	0.74099	CGG		0.393	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
ZZZ3	26009	broad.mit.edu	37	1	78097917	78097917	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78097917G>A	ENST00000370801.3	-	5	1598	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	375					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R375C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAGTATAACGATGTTCTTGA	0.453																																					p.R375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	1						.						132.0	124.0	127.0					1																	78097917		2203	4300	6503	77870505	SO:0001583	missense	26009	exon5			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1123C>T	1.37:g.78097917G>A	ENSP00000359837:p.Arg375Cys		77870505	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769794	0.49680	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.68961	-0.5271	8	.	.	.	.	12.6925	0.56982	0.0:0.0:0.7268:0.2732	.	375;375;375	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	C	375	.	.	R	-	1	0	ZZZ3	77870505	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.491000	0.53252	2.714000	0.92807	0.650000	0.86243	CGT		0.453	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
USP33	23032	broad.mit.edu	37	1	78181514	78181514	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78181514T>G	ENST00000370793.1	-	19	2397	c.2051A>C	c.(2050-2052)aAt>aCt	p.N684T	USP33_ENST00000357428.1_Missense_Mutation_p.N684T|USP33_ENST00000370792.3_Missense_Mutation_p.N676T|USP33_ENST00000370794.3_Missense_Mutation_p.N653T	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	684	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N684T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATACCAGAGATTATTTAGATT	0.338																																					p.N684T	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2051C	1						.						86.0	84.0	85.0					1																	78181514		2203	4300	6503	77954102	SO:0001583	missense	23032	exon19			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2051A>C	1.37:g.78181514T>G	ENSP00000359829:p.Asn684Thr		77954102	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.01|17.01	3.278398|3.278398	0.59758|0.59758	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.33216	.|4.02;1.42;1.42;4.02	4.46|4.46	4.46|4.46	0.54185|0.54185	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.207023	.|0.48767	.|D	.|0.000164	T|T	0.28764|0.28764	0.0713|0.0713	M|M	0.63208|0.63208	1.945|1.945	0.51482|0.51482	D|D	0.999925|0.999925	.|P;P;P;P	.|0.41188	.|0.609;0.609;0.661;0.741	.|B;B;P;B	.|0.45913	.|0.363;0.258;0.497;0.388	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.72032	.|D	.|0.01	.|.	14.445|14.445	0.67342|0.67342	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|676;653;684;18	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	L|T	289|653;684;684;676	.|ENSP00000359830:N653T;ENSP00000359829:N684T;ENSP00000350009:N684T;ENSP00000359828:N676T	.|ENSP00000350009:N684T	I|N	-|-	1|2	0|0	USP33|USP33	77954102|77954102	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.992000|0.992000	0.81027|0.81027	3.183000|3.183000	0.50918|0.50918	1.952000|1.952000	0.56665|0.56665	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.338	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
USP33	23032	broad.mit.edu	37	1	78207406	78207406	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78207406T>C	ENST00000370793.1	-	3	416	c.70A>G	c.(70-72)Aaa>Gaa	p.K24E	USP33_ENST00000357428.1_Missense_Mutation_p.K24E|USP33_ENST00000370792.3_Missense_Mutation_p.K24E|USP33_ENST00000370794.3_5'UTR|USP33_ENST00000528150.1_5'UTR	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	24					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K24E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTTCCTGTTTCCCAAGACTT	0.294																																					p.K24E	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A70G	1						.						35.0	36.0	36.0					1																	78207406		2203	4289	6492	77979994	SO:0001583	missense	23032	exon3			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.70A>G	1.37:g.78207406T>C	ENSP00000359829:p.Lys24Glu		77979994	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242901	0.39598	.	.	ENSG00000077254	ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709	T;T;T;T	0.32753	2.96;2.96;2.96;1.44	5.61	4.49	0.54785	.	0.481200	0.17610	N	0.168123	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.10450	0.005;0.002	T	0.21109	-1.0255	10	0.72032	D	0.01	.	3.8548	0.08971	0.134:0.0729:0.1245:0.6687	.	24;24	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	E	24	ENSP00000359829:K24E;ENSP00000350009:K24E;ENSP00000359828:K24E;ENSP00000434441:K24E	ENSP00000350009:K24E	K	-	1	0	USP33	77979994	0.026000	0.19158	0.980000	0.43619	0.835000	0.47333	1.674000	0.37544	1.080000	0.41073	0.455000	0.32223	AAA		0.294	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
FAM73A	374986	broad.mit.edu	37	1	78324724	78324724	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78324724T>G	ENST00000370791.3	+	9	1130	c.1098T>G	c.(1096-1098)atT>atG	p.I366M	FAM73A_ENST00000443751.2_Missense_Mutation_p.I328M	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	366						integral component of membrane (GO:0016021)		p.I366M(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AAGGAAAAATTTACTCCAGAG	0.378																																					p.I366M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1098G	1						.						99.0	94.0	96.0					1																	78324724		2203	4300	6503	78097312	SO:0001583	missense	374986	exon9				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1098T>G	1.37:g.78324724T>G	ENSP00000359827:p.Ile366Met		78097312	NM_198549	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456594	0.63401	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.28895	1.59;1.59	5.56	2.05	0.26809	.	0.280148	0.38720	N	0.001593	T	0.35653	0.0939	M	0.73217	2.22	0.47511	D	0.999443	P;P;P;P	0.51147	0.879;0.942;0.928;0.942	P;P;P;P	0.60012	0.668;0.867;0.79;0.867	T	0.29305	-1.0016	10	0.87932	D	0	-38.2895	9.5736	0.39442	0.0:0.1969:0.0:0.8031	.	328;366;366;366	F8W7S1;B7ZLZ8;Q8NAN2-2;Q8NAN2	.;.;.;FA73A_HUMAN	M	366;328	ENSP00000359827:I366M;ENSP00000393675:I328M	ENSP00000359827:I366M	I	+	3	3	FAM73A	78097312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.632000	0.24583	0.935000	0.37341	0.533000	0.62120	ATT		0.378	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549	
NEXN	91624	broad.mit.edu	37	1	78399044	78399044	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78399044T>A	ENST00000334785.7	+	10	1315	c.1131T>A	c.(1129-1131)aaT>aaA	p.N377K	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N363K|NEXN_ENST00000330010.8_Missense_Mutation_p.N313K	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.N377K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TGGAAATTAATTTTGAAGAAT	0.318																																					p.N377K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1131A	1						.						29.0	28.0	29.0					1																	78399044		1795	4052	5847	78171632	SO:0001583	missense	91624	exon10			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1131T>A	1.37:g.78399044T>A	ENSP00000333938:p.Asn377Lys		78171632	NM_144573		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.148727|4.148727	0.78001|0.78001	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T;T	.|0.76968	.|-1.06;-0.02;-0.16;-0.19;-0.4	5.93|5.93	3.64|3.64	0.41730|0.41730	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.75510|0.75510	0.3859|0.3859	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.63046	.|0.986;0.992;0.986;0.986	.|D;D;D;D	.|0.69824	.|0.949;0.966;0.926;0.949	T|T	0.76862|0.76862	-0.2802|-0.2802	5|10	.|0.07990	.|T	.|0.79	-26.8768|-26.8768	9.181|9.181	0.37141|0.37141	0.0:0.2033:0.0:0.7967|0.0:0.2033:0.0:0.7967	.|.	.|313;363;377;313	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	N|K	277|313;363;313;377;363	.|ENSP00000383814:N313K;ENSP00000388048:N363K;ENSP00000327363:N313K;ENSP00000333938:N377K;ENSP00000411902:N363K	.|ENSP00000327363:N313K	I|N	+|+	2|3	0|2	NEXN|NEXN	78171632|78171632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.039000|3.039000	0.49791|0.49791	0.516000|0.516000	0.28340|0.28340	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.318	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
FUBP1	8880	broad.mit.edu	37	1	78433328	78433328	+	Silent	SNP	C	C	T	rs375397592		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78433328C>T	ENST00000370768.2	-	4	354	c.273G>A	c.(271-273)ccG>ccA	p.P91P	FUBP1_ENST00000436586.2_Silent_p.P112P|FUBP1_ENST00000370767.1_Silent_p.P91P	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	91					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.P91P(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGATGCATCGGTGGTAACT	0.289			"""F, N"""		oligodendroglioma																																p.P91P			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	1						.	C		0,4406		0,0,2203	114.0	105.0	108.0		273	-6.1	0.7	1		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FUBP1	NM_003902.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		91/645	78433328	1,13005	2203	4300	6503	78205916	SO:0001819	synonymous_variant	8880	exon4			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.273G>A	1.37:g.78433328C>T			78205916	NM_003902	Q12828	Silent	SNP	ENST00000370768.2	37	CCDS683.1																																																																																				0.289	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	
GIPC2	54810	broad.mit.edu	37	1	78546461	78546461	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78546461G>A	ENST00000370759.3	+	2	536	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	115						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E115K(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GAAAGGAATCGAAAAAGAAGT	0.333																																					p.E115K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	1						.						115.0	118.0	117.0					1																	78546461		2203	4299	6502	78319049	SO:0001583	missense	54810	exon2			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.343G>A	1.37:g.78546461G>A	ENSP00000359795:p.Glu115Lys		78319049	NM_017655	Q8IYD3|Q9NXS7	Missense_Mutation	SNP	ENST00000370759.3	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	A	0.028	-1.352253	0.01256	.	.	ENSG00000137960	ENST00000370759	T	0.39229	1.09	6.16	-0.811	0.10857	PDZ/DHR/GLGF (1);	0.444694	0.26812	N	0.022377	T	0.02047	0.0064	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43956	-0.9359	10	0.02654	T	1	-4.4581	8.4323	0.32766	0.5195:0.2254:0.2551:0.0	.	115	Q8TF65	GIPC2_HUMAN	K	115	ENSP00000359795:E115K	ENSP00000359795:E115K	E	+	1	0	GIPC2	78319049	0.017000	0.18338	0.033000	0.17914	0.116000	0.19942	1.376000	0.34306	-0.258000	0.09446	-0.269000	0.10298	GAA		0.333	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	
GIPC2	54810	broad.mit.edu	37	1	78585115	78585115	+	Nonsense_Mutation	SNP	G	G	T	rs140087680		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:78585115G>T	ENST00000370759.3	+	4	839	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	216						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E216*(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTCATCAGGAGAAAAAATTGG	0.418																																					p.E216X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G646T	1						.	G	stop/GLU	0,4406		0,0,2203	126.0	124.0	124.0		646	5.6	0.0	1	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GIPC2	NM_017655.4		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		216/316	78585115	1,13005	2203	4300	6503	78357703	SO:0001587	stop_gained	54810	exon4			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.646G>T	1.37:g.78585115G>T	ENSP00000359795:p.Glu216*		78357703	NM_017655	Q8IYD3|Q9NXS7	Nonsense_Mutation	SNP	ENST00000370759.3	37	CCDS685.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372190	0.61624	0.0	1.16E-4	ENSG00000137960	ENST00000370759	.	.	.	5.59	5.59	0.84812	.	0.920867	0.09447	N	0.801029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-10.7946	15.4637	0.75381	0.0:0.0:1.0:0.0	.	.	.	.	X	216	.	ENSP00000359795:E216X	E	+	1	0	GIPC2	78357703	0.176000	0.23096	0.010000	0.14722	0.013000	0.08279	3.330000	0.52068	2.808000	0.96608	0.655000	0.94253	GAA		0.418	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655	
IFI44L	10964	broad.mit.edu	37	1	79102806	79102806	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:79102806C>A	ENST00000370751.5	+	6	1145	c.966C>A	c.(964-966)gtC>gtA	p.V322V	IFI44L_ENST00000342282.3_Silent_p.V64V|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	322					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.V283V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGGCTTATGTCTTAGACATCA	0.368																																					p.V322V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966A	1						.						159.0	160.0	160.0					1																	79102806		2203	4300	6503	78875394	SO:0001819	synonymous_variant	10964	exon6			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.966C>A	1.37:g.79102806C>A			78875394	NM_006820	Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	CCDS687.2																																																																																				0.368	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820	
IFI44	10561	broad.mit.edu	37	1	79116171	79116171	+	Silent	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:79116171A>T	ENST00000370747.4	+	2	376	c.291A>T	c.(289-291)ccA>ccT	p.P97P	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	97					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.P97P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATGTACACCAGAAACACTGT	0.348																																					p.P97P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A291T	1						.						86.0	92.0	90.0					1																	79116171		2203	4300	6503	78888759	SO:0001819	synonymous_variant	10561	exon2			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.291A>T	1.37:g.79116171A>T			78888759	NM_006417	B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	CCDS688.1																																																																																				0.348	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417	
IFI44	10561	broad.mit.edu	37	1	79116334	79116334	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:79116334G>A	ENST00000370747.4	+	2	539	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	152					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.E152K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTTCGATGCGAAGGTAGGTT	0.328																																					p.E152K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G454A	1						.						38.0	40.0	39.0					1																	79116334		2200	4286	6486	78888922	SO:0001583	missense	10561	exon2			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.454G>A	1.37:g.79116334G>A	ENSP00000359783:p.Glu152Lys		78888922	NM_006417	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857650	0.51376	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.26518	2.79;1.73	3.27	3.27	0.37495	.	0.142017	0.44285	D	0.000465	T	0.26484	0.0647	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.968;0.957	T	0.02484	-1.1152	10	0.66056	D	0.02	.	10.3025	0.43661	0.0:0.0:1.0:0.0	.	152;152	B7ZB11;Q8TCB0	.;IFI44_HUMAN	K	152;28	ENSP00000359783:E152K;ENSP00000399477:E28K	ENSP00000359783:E152K	E	+	1	0	IFI44	78888922	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	3.325000	0.52030	2.110000	0.64415	0.467000	0.42956	GAA		0.328	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417	
ELTD1	64123	broad.mit.edu	37	1	79392734	79392734	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:79392734G>T	ENST00000370742.3	-	8	983	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	307					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P307H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGAAAGCAAAGGACCAATACT	0.294																																					p.P307H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C920A	1						.						72.0	67.0	68.0					1																	79392734		1804	4078	5882	79165322	SO:0001583	missense	64123	exon8			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.920C>A	1.37:g.79392734G>T	ENSP00000359778:p.Pro307His		79165322	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367536	0.42003	.	.	ENSG00000162618	ENST00000370742	T	0.09255	3.0	6.02	4.12	0.48240	Domain of unknown function DUF3497 (1);	0.454723	0.26665	N	0.023137	T	0.02848	0.0085	L	0.44542	1.39	0.25325	N	0.989083	B	0.12013	0.005	B	0.19946	0.027	T	0.42361	-0.9456	9	.	.	.	.	6.1918	0.20528	0.0661:0.2534:0.549:0.1315	.	307	Q9HBW9	ELTD1_HUMAN	H	307	ENSP00000359778:P307H	.	P	-	2	0	ELTD1	79165322	1.000000	0.71417	0.997000	0.53966	0.547000	0.35210	3.089000	0.50183	0.846000	0.35142	-0.285000	0.09966	CCT		0.294	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
ELTD1	64123	broad.mit.edu	37	1	79403526	79403526	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:79403526C>A	ENST00000370742.3	-	6	789	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	242					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K242N(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACTCTGTGGTCTTTTGGAAGC	0.358																																					p.K242N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	1						.						177.0	163.0	167.0					1																	79403526		1836	4084	5920	79176114	SO:0001583	missense	64123	exon6			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.726G>T	1.37:g.79403526C>A	ENSP00000359778:p.Lys242Asn		79176114	NM_022159	B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607127	0.66558	.	.	ENSG00000162618	ENST00000370742	T	0.11063	2.81	5.79	2.94	0.34122	Domain of unknown function DUF3497 (1);	0.187977	0.56097	D	0.000033	T	0.04588	0.0125	L	0.53249	1.67	0.37771	D	0.926681	B	0.21452	0.056	B	0.27076	0.076	T	0.19679	-1.0298	9	.	.	.	.	10.7942	0.46451	0.0:0.797:0.0:0.203	.	242	Q9HBW9	ELTD1_HUMAN	N	242	ENSP00000359778:K242N	.	K	-	3	2	ELTD1	79176114	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	0.669000	0.25142	0.370000	0.24538	0.557000	0.71058	AAG		0.358	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:82408790C>T	ENST00000370728.1	+	8	1180	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_ENST00000319517.6_Missense_Mutation_p.R179C|LPHN2_ENST00000370730.1_Missense_Mutation_p.R179C|LPHN2_ENST00000271029.4_Missense_Mutation_p.R179C|LPHN2_ENST00000359929.3_Missense_Mutation_p.R179C|LPHN2_ENST00000370721.1_Missense_Mutation_p.R183C|LPHN2_ENST00000370715.1_Missense_Mutation_p.R179C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.R179C|LPHN2_ENST00000394879.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370717.2_Missense_Mutation_p.R179C|LPHN2_ENST00000370725.1_Missense_Mutation_p.R179C|LPHN2_ENST00000370713.1_Missense_Mutation_p.R179C|LPHN2_ENST00000335786.5_Missense_Mutation_p.R179C|LPHN2_ENST00000370723.1_Missense_Mutation_p.R179C			O95490	LPHN2_HUMAN	latrophilin 2	179	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.R179C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCCCTATCGTACCGATAC	0.398																																					p.R179C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C535T	1						.						73.0	78.0	77.0					1																	82408790		2202	4298	6500	82181378	SO:0001583	missense	23266	exon5			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.535C>T	1.37:g.82408790C>T	ENSP00000359763:p.Arg179Cys		82181378	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	C	16.26	3.072310	0.55646	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.9	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.94565	0.8249	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.991;0.993	D	0.95695	0.8744	10	0.87932	D	0	.	17.2124	0.86934	0.0:0.8742:0.1258:0.0	.	179;179;179	O95490-3;O95490-4;O95490-2	.;.;.	C	183;179;179;179;179;179;179;179;179;179;179;179;179;179	ENSP00000359756:R183C;ENSP00000359763:R179C;ENSP00000359765:R179C;ENSP00000359762:R179C;ENSP00000359760:R179C;ENSP00000359758:R179C;ENSP00000353006:R179C;ENSP00000359750:R179C;ENSP00000359748:R179C;ENSP00000322270:R179C;ENSP00000359752:R179C;ENSP00000378344:R179C;ENSP00000271029:R179C;ENSP00000337306:R179C	ENSP00000271029:R179C	R	+	1	0	LPHN2	82181378	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	3.893000	0.56243	1.485000	0.48380	0.650000	0.86243	CGT		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
LPHN2	23266	broad.mit.edu	37	1	82445597	82445597	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:82445597G>A	ENST00000370728.1	+	20	3699	c.3054G>A	c.(3052-3054)aaG>aaA	p.K1018K	LPHN2_ENST00000319517.6_Silent_p.K1005K|LPHN2_ENST00000370730.1_Silent_p.K1018K|LPHN2_ENST00000271029.4_Silent_p.K1018K|LPHN2_ENST00000359929.3_Silent_p.K1005K|LPHN2_ENST00000370721.1_Silent_p.K943K|LPHN2_ENST00000370715.1_Silent_p.K1005K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.K1018K|LPHN2_ENST00000394879.1_Silent_p.K1005K|LPHN2_ENST00000370717.2_Silent_p.K1018K|LPHN2_ENST00000370725.1_Silent_p.K1018K|LPHN2_ENST00000370713.1_Silent_p.K1005K|LPHN2_ENST00000335786.5_Silent_p.K1018K|LPHN2_ENST00000370723.1_Silent_p.K1005K			O95490	LPHN2_HUMAN	latrophilin 2	1018					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.K1005K(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATGGTGAAGCATTCAAACA	0.284																																					p.K1005K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3015A	1						.						94.0	92.0	93.0					1																	82445597		2203	4294	6497	82218185	SO:0001819	synonymous_variant	23266	exon16			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3054G>A	1.37:g.82445597G>A			82218185	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.971|8.971	0.972981|0.972981	0.18736|0.18736	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000449420	.|.	.|.	.|.	5.98|5.98	2.07|2.07	0.26955|0.26955	.|.	.|.	.|.	.|.	.|.	T|T	0.44767|0.44767	0.1309|0.1309	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.34453|0.34453	-0.9828|-0.9828	4|4	.|.	.|.	.|.	.|.	10.205|10.205	0.43107|0.43107	0.268:0.0:0.732:0.0|0.268:0.0:0.732:0.0	.|.	.|.	.|.	.|.	T|N	9|886	.|.	.|.	A|S	+|+	1|2	0|0	LPHN2|LPHN2	82218185|82218185	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.948000|0.948000	0.59901|0.59901	2.617000|2.617000	0.46385|0.46385	0.134000|0.134000	0.18681|0.18681	-0.229000|-0.229000	0.12294|0.12294	GCA|AGC		0.284	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
LPHN2	23266	broad.mit.edu	37	1	82456686	82456686	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:82456686C>A	ENST00000370728.1	+	25	4882	c.4237C>A	c.(4237-4239)Ctt>Att	p.L1413I	LPHN2_ENST00000319517.6_Missense_Mutation_p.L1357I|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1370I|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1385I|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1357I|LPHN2_ENST00000370721.1_Missense_Mutation_p.L1338I|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1385I|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1415I|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1428I|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1428I|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1370I|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1415I			O95490	LPHN2_HUMAN	latrophilin 2	1413					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L1357I(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		catgccaaatcttggagctgg	0.478																																					p.L1357I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4069A	1						.						50.0	48.0	49.0					1																	82456686		2203	4300	6503	82229274	SO:0001583	missense	23266	exon20			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4237C>A	1.37:g.82456686C>A	ENSP00000359763:p.Leu1413Ile		82229274	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.07|14.07	2.425497|2.425497	0.43020|0.43020	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.80304|.	-1.26;-1.36;-1.34;-1.29;-1.29;-1.19;-1.26;-1.26;-1.29;-1.19;-1.29;-1.34|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.156649|.	0.42053|.	D|.	0.000765|.	T|T	0.67154|0.67154	0.2863|0.2863	L|L	0.60455|0.60455	1.87|1.87	0.47511|0.47511	D|D	0.999449|0.999449	P;D|.	0.62365|.	0.828;0.991|.	P;P|.	0.57283|.	0.54;0.817|.	T|T	0.63247|0.63247	-0.6680|-0.6680	10|5	0.56958|.	D|.	0.05|.	.|.	19.7629|19.7629	0.96329|0.96329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1357;337|.	O95490-2;B3KVU1|.	.;.|.	I|Y	1338;1413;1370;1385;1428;1415;1357;1357;1428;1415;1385;1370|424	ENSP00000359756:L1338I;ENSP00000359763:L1413I;ENSP00000359765:L1370I;ENSP00000359762:L1385I;ENSP00000359760:L1428I;ENSP00000359758:L1415I;ENSP00000353006:L1357I;ENSP00000322270:L1357I;ENSP00000359752:L1428I;ENSP00000378344:L1415I;ENSP00000271029:L1385I;ENSP00000337306:L1370I|.	ENSP00000271029:L1385I|.	L|S	+|+	1|2	0|0	LPHN2|LPHN2	82229274|82229274	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.908000|0.908000	0.53690|0.53690	3.529000|3.529000	0.53532|0.53532	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	CTT|TCT		0.478	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
RPF1	80135	broad.mit.edu	37	1	84945013	84945013	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:84945013A>C	ENST00000370654.5	+	1	64	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	RPF1_ENST00000370656.1_Missense_Mutation_p.K17Q	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	17					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.K17Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						GAAAAGTCTAAAACGGAAAGC	0.592																																					p.K17Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A49C	1						.						27.0	28.0	27.0					1																	84945013		2203	4300	6503	84717601	SO:0001583	missense	80135	exon1			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.49A>C	1.37:g.84945013A>C	ENSP00000359688:p.Lys17Gln		84717601	NM_025065	Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	CCDS695.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198359	0.58126	.	.	ENSG00000117133	ENST00000370656;ENST00000370654	T;T	0.53423	0.62;1.41	6.17	5.06	0.68205	.	0.200030	0.49916	D	0.000124	T	0.09247	0.0228	N	0.08118	0	0.26905	N	0.967022	B	0.26935	0.164	B	0.22601	0.04	T	0.06607	-1.0817	10	0.22109	T	0.4	-28.3616	5.3222	0.15887	0.7639:0.0:0.2361:0.0	.	17	Q9H9Y2	RPF1_HUMAN	Q	17	ENSP00000359690:K17Q;ENSP00000359688:K17Q	ENSP00000359688:K17Q	K	+	1	0	RPF1	84717601	0.983000	0.35010	0.684000	0.30055	0.691000	0.40173	2.321000	0.43805	2.371000	0.80710	0.533000	0.62120	AAA		0.592	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	
RPF1	80135	broad.mit.edu	37	1	84961124	84961124	+	Missense_Mutation	SNP	C	C	T	rs530459635		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:84961124C>T	ENST00000370654.5	+	6	700	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	229	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R229C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TGTTCGTCTTCGTAAAGAAAT	0.308													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18759	0.0		0.0	False		,,,				2504	0.0				p.R229C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	1						.						59.0	63.0	61.0					1																	84961124		2202	4300	6502	84733712	SO:0001583	missense	80135	exon6			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.685C>T	1.37:g.84961124C>T	ENSP00000359688:p.Arg229Cys		84733712	NM_025065	Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153079	0.57259	.	.	ENSG00000117133	ENST00000370654	T	0.22134	1.97	5.81	4.88	0.63580	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	M	0.80332	2.49	0.80722	D	1	B	0.23990	0.095	B	0.24701	0.055	T	0.06303	-1.0834	10	0.66056	D	0.02	-6.4412	16.3572	0.83239	0.0:0.8677:0.1323:0.0	.	229	Q9H9Y2	RPF1_HUMAN	C	229	ENSP00000359688:R229C	ENSP00000359688:R229C	R	+	1	0	RPF1	84733712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.694000	0.68272	1.425000	0.47237	0.655000	0.94253	CGT		0.308	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	
SSX2IP	117178	broad.mit.edu	37	1	85113220	85113220	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85113220G>T	ENST00000342203.3	-	14	2004	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	SSX2IP_ENST00000605755.1_Missense_Mutation_p.Q554K|SSX2IP_ENST00000437941.2_Missense_Mutation_p.Q554K	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	581					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.Q581K(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTCCATTTTTGATTTGTACAT	0.388																																					p.Q554K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660A	1						.						250.0	202.0	218.0					1																	85113220		2203	4300	6503	84885808	SO:0001583	missense	117178	exon13				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1741C>A	1.37:g.85113220G>T	ENSP00000340279:p.Gln581Lys		84885808	NM_001166295	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868384	0.32977	.	.	ENSG00000117155	ENST00000342203;ENST00000437941	T;T	0.53423	0.63;0.62	5.86	4.95	0.65309	.	0.105176	0.42821	D	0.000645	T	0.16811	0.0404	L	0.44542	1.39	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08452	-1.0721	10	0.29301	T	0.29	-0.1455	5.4447	0.16529	0.0762:0.1304:0.6414:0.152	.	581;554	Q9Y2D8;B4DFE3	ADIP_HUMAN;.	K	581;554	ENSP00000340279:Q581K;ENSP00000412781:Q554K	ENSP00000340279:Q581K	Q	-	1	0	SSX2IP	84885808	0.371000	0.25056	0.012000	0.15200	0.398000	0.30690	1.750000	0.38329	1.484000	0.48361	0.655000	0.94253	CAA		0.388	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021	
WDR63	126820	broad.mit.edu	37	1	85555844	85555844	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85555844C>A	ENST00000294664.6	+	8	966	c.786C>A	c.(784-786)ttC>ttA	p.F262L	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	262								p.F262L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAAGAGAATTCTCAGAAGAGG	0.274																																					p.F262L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C786A	1						.						46.0	48.0	47.0					1																	85555844		2200	4288	6488	85328432	SO:0001583	missense	126820	exon8				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.786C>A	1.37:g.85555844C>A	ENSP00000294664:p.Phe262Leu		85328432	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455447	0.26161	.	.	ENSG00000162643	ENST00000294664	T	0.38077	1.16	5.46	3.53	0.40419	.	0.101908	0.64402	D	0.000002	T	0.07098	0.0180	L	0.33245	0.995	0.39226	D	0.963582	B	0.06786	0.001	B	0.09377	0.004	T	0.31558	-0.9939	10	0.02654	T	1	-5.2308	5.3797	0.16183	0.0:0.5902:0.1756:0.2342	.	262	Q8IWG1	WDR63_HUMAN	L	262	ENSP00000294664:F262L	ENSP00000294664:F262L	F	+	3	2	WDR63	85328432	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.715000	0.25822	0.589000	0.29677	0.591000	0.81541	TTC		0.274	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
SYDE2	84144	broad.mit.edu	37	1	85648420	85648420	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85648420T>C	ENST00000341460.5	-	3	1954	c.1905A>G	c.(1903-1905)aaA>aaG	p.K635K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	635					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.K557K(1)|p.K635K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGATCCATGTTTGCTAGCTT	0.338																																					p.K635K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1905G	1						.						90.0	81.0	84.0					1																	85648420		1839	4092	5931	85421008	SO:0001819	synonymous_variant	84144	exon3			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1905A>G	1.37:g.85648420T>C			85421008	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	CCDS44169.1																																																																																				0.338	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
SYDE2	84144	broad.mit.edu	37	1	85656004	85656004	+	Missense_Mutation	SNP	C	C	T	rs183800883		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85656004C>T	ENST00000341460.5	-	2	1226	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	393					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.D315N(1)|p.D393N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACAGCAGAGTCGGCCTCACCA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20824	0.0		0.0	False		,,,				2504	0.0				p.D393N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1177A	1						.						74.0	74.0	74.0					1																	85656004		2087	4206	6293	85428592	SO:0001583	missense	84144	exon2			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1177G>A	1.37:g.85656004C>T	ENSP00000340594:p.Asp393Asn		85428592	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.011	-1.727394	0.00694	.	.	ENSG00000097096	ENST00000341460	T	0.05925	3.37	6.05	-5.73	0.02398	.	0.627024	0.17470	N	0.173101	T	0.00440	0.0014	N	0.01742	-0.745	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29822	-0.9999	10	0.02654	T	1	.	8.093	0.30811	0.0:0.3118:0.1824:0.5058	.	393;393	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	N	393	ENSP00000340594:D393N	ENSP00000340594:D393N	D	-	1	0	SYDE2	85428592	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.122000	0.10627	-1.292000	0.02366	-1.124000	0.02001	GAC		0.468	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
SYDE2	84144	broad.mit.edu	37	1	85656323	85656323	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85656323C>A	ENST00000341460.5	-	2	907	c.858G>T	c.(856-858)aaG>aaT	p.K286N		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	286					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.K208N(1)|p.K286N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTGCGTTTCTTTGAAACAG	0.388																																					p.K286N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G858T	1						.						164.0	154.0	157.0					1																	85656323		1847	4110	5957	85428911	SO:0001583	missense	84144	exon2			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.858G>T	1.37:g.85656323C>A	ENSP00000340594:p.Lys286Asn		85428911	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044510	0.75732	.	.	ENSG00000097096	ENST00000341460	T	0.16073	2.37	6.17	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	M	0.76002	2.32	0.49213	D	0.999763	D;D	0.89917	0.986;1.0	P;D	0.71656	0.843;0.974	T	0.13045	-1.0524	10	0.87932	D	0	.	13.3838	0.60785	0.0:0.8875:0.0:0.1125	.	286;286	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	N	286	ENSP00000340594:K286N	ENSP00000340594:K286N	K	-	3	2	SYDE2	85428911	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.590000	0.36654	0.949000	0.37715	0.655000	0.94253	AAG		0.388	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
C1orf52	148423	broad.mit.edu	37	1	85718347	85718347	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:85718347C>A	ENST00000471115.1	-	3	522	c.514G>T	c.(514-516)Gta>Tta	p.V172L	C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	172							poly(A) RNA binding (GO:0044822)	p.V172L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTGGCTCTACTTTGCGCTTT	0.318																																					p.V172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514T	1						.						155.0	137.0	143.0					1																	85718347		2202	4297	6499	85490935	SO:0001583	missense	148423	exon3			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.514G>T	1.37:g.85718347C>A	ENSP00000419417:p.Val172Leu		85490935	NM_198077	B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023959	0.35701	.	.	ENSG00000162642	ENST00000471115	.	.	.	5.82	2.69	0.31865	.	0.521283	0.19278	N	0.118233	T	0.20659	0.0497	N	0.21448	0.665	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.05666	-1.0871	9	0.32370	T	0.25	-13.035	6.2983	0.21099	0.0:0.6501:0.0:0.3499	.	172	Q8N6N3	CA052_HUMAN	L	172	.	ENSP00000419417:V172L	V	-	1	0	C1orf52	85490935	0.985000	0.35326	1.000000	0.80357	0.995000	0.86356	-0.018000	0.12568	0.650000	0.30769	0.561000	0.74099	GTA		0.318	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2	NM_198077	
ZNHIT6	54680	broad.mit.edu	37	1	86123644	86123644	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86123644G>T	ENST00000370574.3	-	9	1391	c.1258C>A	c.(1258-1260)Cta>Ata	p.L420I	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.L381I			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	420					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.L420I(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TAAGGATCTAGTTCATAATAT	0.254																																					p.L381I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141A	1						.						47.0	50.0	49.0					1																	86123644		2199	4289	6488	85896232	SO:0001583	missense	54680	exon10			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1258C>A	1.37:g.86123644G>T	ENSP00000359606:p.Leu420Ile		85896232	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403726	0.62288	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.58358	0.45;0.34	5.86	3.01	0.34805	.	0.000000	0.64402	D	0.000004	T	0.52273	0.1724	L	0.58354	1.805	0.44241	D	0.997084	D;D	0.76494	0.997;0.999	P;D	0.80764	0.904;0.994	T	0.54721	-0.8251	10	0.54805	T	0.06	-6.8624	7.1909	0.25824	0.1415:0.0:0.7204:0.1381	.	381;420	B4DP13;Q9NWK9	.;BCD1_HUMAN	I	381;420	ENSP00000414344:L381I;ENSP00000359606:L420I	ENSP00000359606:L420I	L	-	1	2	ZNHIT6	85896232	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.401000	0.34589	0.494000	0.27859	0.650000	0.86243	CTA		0.254	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
ZNHIT6	54680	broad.mit.edu	37	1	86171989	86171989	+	Nonsense_Mutation	SNP	G	G	A	rs374783757		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86171989G>A	ENST00000370574.3	-	3	905	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNHIT6_ENST00000431532.2_Nonsense_Mutation_p.R219*			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	258					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R258*(3)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTTTATCTCGAACTCCATTA	0.368																																					p.R219X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C655T	1						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	114.0	118.0		655,772	3.5	1.0	1		118	0,8600		0,0,4300	no	stop-gained,stop-gained	ZNHIT6	NM_001170670.1,NM_017953.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	219/432,258/471	86171989	1,13005	2203	4300	6503	85944577	SO:0001587	stop_gained	54680	exon4			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.772C>T	1.37:g.86171989G>A	ENSP00000359606:p.Arg258*		85944577	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Nonsense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	38	6.752255	0.97813	2.27E-4	0.0	ENSG00000117174	ENST00000431532;ENST00000370574	.	.	.	5.43	3.49	0.39957	.	0.212842	0.37348	N	0.002123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1369	10.4817	0.44698	0.0:0.1126:0.569:0.3183	.	.	.	.	X	219;258	.	ENSP00000359606:R258X	R	-	1	2	ZNHIT6	85944577	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.807000	0.47955	0.729000	0.32403	0.650000	0.86243	CGA		0.368	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
ZNHIT6	54680	broad.mit.edu	37	1	86173448	86173448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86173448C>A	ENST00000370574.3	-	1	653	c.520G>T	c.(520-522)Gag>Tag	p.E174*	ZNHIT6_ENST00000431532.2_Nonsense_Mutation_p.E135*			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	174	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.E174*(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATCAATTCCTCTTTTATGCAT	0.398																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	1						.						273.0	261.0	265.0					1																	86173448		2203	4300	6503	85946036	SO:0001587	stop_gained	54680	exon2			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.520G>T	1.37:g.86173448C>A	ENSP00000359606:p.Glu174*		85946036	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Nonsense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550360	0.86127	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	.	.	.	4.31	-3.66	0.04489	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-22.5833	6.4705	0.22005	0.0:0.4166:0.3616:0.2217	.	.	.	.	X	135;174	.	ENSP00000359606:E174X	E	-	1	0	ZNHIT6	85946036	0.000000	0.05858	0.032000	0.17829	0.198000	0.23893	-1.081000	0.03403	-0.407000	0.07576	0.491000	0.48974	GAG		0.398	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
ODF2L	57489	broad.mit.edu	37	1	86820281	86820281	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86820281C>T	ENST00000359242.3	-	16	1980	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ODF2L_ENST00000394731.1_Missense_Mutation_p.E407K|ODF2L_ENST00000317336.7_Missense_Mutation_p.E567K|ODF2L_ENST00000370566.3_Missense_Mutation_p.E485K|ODF2L_ENST00000370567.1_Missense_Mutation_p.E538K|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000294678.2_Missense_Mutation_p.E551K	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	567						centrosome (GO:0005813)		p.E538K(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GCAGATTTCTCTTTAAACTTA	0.363																																					p.E551K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1651A	1						.						139.0	138.0	138.0					1																	86820281		2203	4300	6503	86592869	SO:0001583	missense	57489	exon16				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1699G>A	1.37:g.86820281C>T	ENSP00000359600:p.Glu567Lys		86592869	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061394	0.76187	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000462648;ENST00000294678	T;T;T;T;T;T;T;T	0.78246	1.63;1.35;-1.16;1.41;1.41;1.46;0.5;1.38	6.03	5.11	0.69529	.	0.368768	0.31601	N	0.007380	T	0.55305	0.1912	L	0.45698	1.435	0.33892	D	0.637502	P;B;B;B;B	0.35793	0.521;0.174;0.122;0.228;0.228	B;B;B;B;B	0.36244	0.111;0.22;0.081;0.125;0.199	T	0.52859	-0.8519	10	0.16896	T	0.51	-14.945	10.0261	0.42072	0.0:0.8531:0.0:0.1469	.	485;514;538;551;567	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	K	515;485;567;414;567;538;407;74;551	ENSP00000359597:E485K;ENSP00000359600:E567K;ENSP00000433092:E414K;ENSP00000320165:E567K;ENSP00000359598:E538K;ENSP00000378219:E407K;ENSP00000437043:E74K;ENSP00000294678:E551K	ENSP00000294678:E551K	E	-	1	0	ODF2L	86592869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.045000	0.30341	2.861000	0.98227	0.655000	0.94253	GAG		0.363	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
ODF2L	57489	broad.mit.edu	37	1	86824559	86824559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86824559C>A	ENST00000359242.3	-	13	1551	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	ODF2L_ENST00000394731.1_Nonsense_Mutation_p.E264*|ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E424*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E395*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E395*|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E395*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	424						centrosome (GO:0005813)		p.E395*(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCAGCTGCTTCTTGCAACTTT	0.239																																					p.E395X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1183T	1						.						35.0	35.0	35.0					1																	86824559		2185	4265	6450	86597147	SO:0001587	stop_gained	57489	exon12				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1270G>T	1.37:g.86824559C>A	ENSP00000359600:p.Glu424*		86597147	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Nonsense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.517813|5.517813	0.96416|0.96416	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890|ENST00000459999	.|.	.|.	.|.	5.54|5.54	4.43|4.43	0.53597|0.53597	.|.	0.405411|.	0.26931|.	N|.	0.021777|.	.|T	.|0.40694	.|0.1127	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.32613	.|-0.9900	.|3	0.07325|.	T|.	0.83|.	-17.2258|-17.2258	10.1587|10.1587	0.42838|0.42838	0.0:0.8948:0.0:0.1052|0.0:0.8948:0.0:0.1052	.|.	.|.	.|.	.|.	X|N	395;395;424;271;424;395;264;395;225|243	.|.	ENSP00000294678:E395X|.	E|K	-|-	1|3	0|2	ODF2L|ODF2L	86597147|86597147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	1.632000|1.632000	0.37102|0.37102	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	GAA|AAG		0.239	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
ODF2L	57489	broad.mit.edu	37	1	86847936	86847936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86847936C>A	ENST00000359242.3	-	7	894	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	ODF2L_ENST00000394731.1_Nonsense_Mutation_p.E74*|ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E205*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E205*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E205*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E205*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	205						centrosome (GO:0005813)		p.E205*(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTTACATATTCTTTCAACTTA	0.308																																					p.E205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G613T	1						.						74.0	74.0	74.0					1																	86847936		2202	4297	6499	86620524	SO:0001587	stop_gained	57489	exon7				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.613G>T	1.37:g.86847936C>A	ENSP00000359600:p.Glu205*		86620524	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Nonsense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.609993|4.609993	0.87258|0.87258	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678|ENST00000459999	.|.	.|.	.|.	5.4|5.4	4.43|4.43	0.53597|0.53597	.|.	0.691838|.	0.14902|.	N|.	0.291721|.	.|T	.|0.39091	.|0.1065	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17806	.|-1.0357	.|4	0.06236|0.25106	T|T	0.91|0.35	-5.8712|-5.8712	11.9677|11.9677	0.53044|0.53044	0.1727:0.8273:0.0:0.0|0.1727:0.8273:0.0:0.0	.|.	.|.	.|.	.|.	X|N	205;205;205;81;205;205;74;205|53	.|.	ENSP00000294678:E205X|ENSP00000436849:K53N	E|K	-|-	1|3	0|2	ODF2L|ODF2L	86620524|86620524	0.993000|0.993000	0.37304|0.37304	0.998000|0.998000	0.56505|0.56505	0.043000|0.043000	0.13939|0.13939	1.301000|1.301000	0.33447|0.33447	2.697000|2.697000	0.92050|0.92050	0.557000|0.557000	0.71058|0.71058	GAA|AAG		0.308	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
ODF2L	57489	broad.mit.edu	37	1	86851260	86851260	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86851260T>C	ENST00000359242.3	-	3	408	c.127A>G	c.(127-129)Att>Gtt	p.I43V	ODF2L_ENST00000394731.1_Intron|ODF2L_ENST00000317336.7_Missense_Mutation_p.I43V|ODF2L_ENST00000370566.3_Missense_Mutation_p.I43V|ODF2L_ENST00000370567.1_Missense_Mutation_p.I43V|ODF2L_ENST00000294678.2_Missense_Mutation_p.I43V	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	43						centrosome (GO:0005813)		p.I43V(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCATTTAGAATGTCCTGCTTC	0.353																																					p.I43V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127G	1						.						79.0	76.0	77.0					1																	86851260		2202	4300	6502	86623848	SO:0001583	missense	57489	exon3				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.127A>G	1.37:g.86851260T>C	ENSP00000359600:p.Ile43Val		86623848	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	T	0.288	-0.981595	0.02197	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959	T;T;T;T;T	0.21031	2.06;2.04;2.04;2.04;2.03	5.4	-3.36	0.04913	.	0.941874	0.08878	N	0.880490	T	0.02047	0.0064	N	0.04880	-0.145	0.22975	N	0.998487	B;B;B;B;B	0.17465	0.0;0.002;0.0;0.0;0.022	B;B;B;B;B	0.10450	0.001;0.002;0.001;0.002;0.005	T	0.44544	-0.9321	10	0.29301	T	0.29	10.1394	2.309	0.04182	0.1541:0.4161:0.1582:0.2717	.	43;43;43;43;43	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	V	43	ENSP00000359597:I43V;ENSP00000359600:I43V;ENSP00000320165:I43V;ENSP00000359598:I43V;ENSP00000294678:I43V	ENSP00000294678:I43V	I	-	1	0	ODF2L	86623848	0.000000	0.05858	0.010000	0.14722	0.837000	0.47467	-0.060000	0.11712	-0.403000	0.07622	-0.320000	0.08662	ATT		0.353	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
ODF2L	57489	broad.mit.edu	37	1	86852674	86852674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86852674C>A	ENST00000359242.3	-	2	318	c.37G>T	c.(37-39)Gaa>Taa	p.E13*	ODF2L_ENST00000486215.1_Nonsense_Mutation_p.E13*|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E13*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E13*|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E13*|ODF2L_ENST00000478286.2_Nonsense_Mutation_p.E13*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E13*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	13						centrosome (GO:0005813)		p.E13*(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAAAAGAGTTCTTCTGAATGA	0.398																																					p.E13X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G37T	1						.						110.0	116.0	114.0					1																	86852674		2203	4299	6502	86625262	SO:0001587	stop_gained	57489	exon2				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.37G>T	1.37:g.86852674C>A	ENSP00000359600:p.Glu13*		86625262	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Nonsense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974777	0.92919	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000317336;ENST00000370567;ENST00000294678;ENST00000465959;ENST00000478286;ENST00000486215	.	.	.	4.69	3.77	0.43336	.	0.418218	0.20390	N	0.093266	.	.	.	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-4.8939	8.871	0.35316	0.0:0.8942:0.0:0.1058	.	.	.	.	X	13	.	ENSP00000294678:E13X	E	-	1	0	ODF2L	86625262	0.975000	0.34042	0.540000	0.28089	0.644000	0.38419	1.419000	0.34793	1.090000	0.41315	0.557000	0.71058	GAA		0.398	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
CLCA2	9635	broad.mit.edu	37	1	86904649	86904649	+	Missense_Mutation	SNP	G	G	A	rs55906076	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86904649G>A	ENST00000370565.4	+	7	1225	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	355	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.D355N(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCCAGTTTCGACAGCAAAGG	0.438																																					p.D355N	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1063A	1						.						128.0	113.0	118.0					1																	86904649		2203	4300	6503	86677237	SO:0001583	missense	9635	exon7				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1063G>A	1.37:g.86904649G>A	ENSP00000359596:p.Asp355Asn		86677237	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	4.938	0.174189	0.09391	.	.	ENSG00000137975	ENST00000370565	T	0.67171	-0.25	5.92	-2.97	0.05530	von Willebrand factor, type A (3);	0.659654	0.15853	N	0.241412	T	0.16854	0.0405	N	0.17872	0.535	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25572	-1.0128	10	0.13853	T	0.58	-0.648	3.2905	0.06947	0.3835:0.1146:0.3902:0.1117	.	355	Q9UQC9	CLCA2_HUMAN	N	355	ENSP00000359596:D355N	ENSP00000359596:D355N	D	+	1	0	CLCA2	86677237	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.152000	0.16302	-0.807000	0.04393	-0.302000	0.09304	GAC		0.438	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
CLCA2	9635	broad.mit.edu	37	1	86921087	86921087	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86921087G>T	ENST00000370565.4	+	14	2871	c.2709G>T	c.(2707-2709)ttG>ttT	p.L903F		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	903					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.L903F(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ATCTTATATTGAAAGGAGTTT	0.398																																					p.L903F	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2709T	1						.						143.0	154.0	150.0					1																	86921087		2203	4300	6503	86693675	SO:0001583	missense	9635	exon14				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2709G>T	1.37:g.86921087G>T	ENSP00000359596:p.Leu903Phe		86693675	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253001	0.39797	.	.	ENSG00000137975	ENST00000370565	T	0.03065	4.06	5.62	3.74	0.42951	.	0.607299	0.15487	N	0.259779	T	0.01320	0.0043	L	0.58925	1.835	0.31950	N	0.609783	P	0.44877	0.845	B	0.41619	0.361	T	0.36335	-0.9752	10	0.09590	T	0.72	-4.56	3.3882	0.07280	0.1542:0.1649:0.5589:0.122	.	903	Q9UQC9	CLCA2_HUMAN	F	903	ENSP00000359596:L903F	ENSP00000359596:L903F	L	+	3	2	CLCA2	86693675	0.927000	0.31430	0.998000	0.56505	0.937000	0.57800	0.504000	0.22626	1.393000	0.46605	0.591000	0.81541	TTG		0.398	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
CLCA1	1179	broad.mit.edu	37	1	86964279	86964279	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:86964279G>A	ENST00000234701.3	+	14	2489	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K	CLCA1_ENST00000394711.1_Missense_Mutation_p.R713K			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	713					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.R713K(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AATCCACCAAGACCTGAAATT	0.398																																					p.R713K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2138A	1						.						94.0	93.0	93.0					1																	86964279		2203	4300	6503	86736867	SO:0001583	missense	1179	exon13				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2138G>A	1.37:g.86964279G>A	ENSP00000234701:p.Arg713Lys		86736867	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184966	0.38609	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02812	4.15;4.15	5.97	1.89	0.25635	.	0.143157	0.45867	D	0.000334	T	0.00695	0.0023	N	0.17922	0.545	0.26945	N	0.966167	B	0.20368	0.044	B	0.21360	0.034	T	0.48768	-0.9006	10	0.27082	T	0.32	-7.7077	8.4115	0.32646	0.1846:0.1156:0.6999:0.0	.	713	A8K7I4	CLCA1_HUMAN	K	713	ENSP00000234701:R713K;ENSP00000378200:R713K	ENSP00000234701:R713K	R	+	2	0	CLCA1	86736867	0.979000	0.34478	0.925000	0.36789	0.701000	0.40568	1.253000	0.32886	0.801000	0.34066	0.655000	0.94253	AGA		0.398	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA4	22802	broad.mit.edu	37	1	87041067	87041067	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:87041067C>A	ENST00000370563.3	+	11	1778	c.1736C>A	c.(1735-1737)aCt>aAt	p.T579N	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	579					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T579N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAAACATTAACTATTACAGTA	0.393																																					p.T579N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1736A	1						.						79.0	74.0	76.0					1																	87041067		1871	4103	5974	86813655	SO:0001583	missense	22802	exon11			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1736C>A	1.37:g.87041067C>A	ENSP00000359594:p.Thr579Asn		86813655	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047165	0.75846	.	.	ENSG00000016602	ENST00000370563	T	0.32753	1.44	5.98	5.05	0.67936	Domain of unknown function DUF1973 (1);	0.271361	0.35096	N	0.003452	T	0.46521	0.1397	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52049	-0.8627	10	0.56958	D	0.05	-31.6027	16.0095	0.80391	0.1358:0.8642:0.0:0.0	.	131;579	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	N	579	ENSP00000359594:T579N	ENSP00000359594:T579N	T	+	2	0	CLCA4	86813655	0.996000	0.38824	0.562000	0.28370	0.990000	0.78478	6.075000	0.71261	1.493000	0.48517	0.655000	0.94253	ACT		0.393	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
SH3GLB1	51100	broad.mit.edu	37	1	87188306	87188306	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:87188306T>G	ENST00000370558.4	+	4	751	c.427T>G	c.(427-429)Ttt>Gtt	p.F143V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.F43V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.F143V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	143	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)	p.F143V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCCTTAAATTTTCTTACTCC	0.313																																					p.F143V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T427G	1						.						76.0	90.0	85.0					1																	87188306		2203	4298	6501	86960894	SO:0001583	missense	51100	exon4			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.427T>G	1.37:g.87188306T>G	ENSP00000473267:p.Phe143Val		86960894	NM_016009	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	CCDS710.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535688	0.64972	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.33865	1.39;1.39	5.73	5.73	0.89815	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.82056	2.57	0.80722	D	1	B;B;B	0.24426	0.103;0.027;0.078	B;B;B	0.36766	0.038;0.031;0.232	T	0.43877	-0.9364	10	0.72032	D	0.01	0.1558	16.0181	0.80457	0.0:0.0:0.0:1.0	.	43;143;143	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	V	143;43;143	ENSP00000441355:F43V;ENSP00000418744:F143V	ENSP00000212369:F143V	F	+	1	0	SH3GLB1	86960894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.915000	0.87484	2.195000	0.70347	0.528000	0.53228	TTT		0.313	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009	
PKN2	5586	broad.mit.edu	37	1	89237133	89237133	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89237133C>T	ENST00000370521.3	+	5	1011	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PKN2_ENST00000316005.7_Missense_Mutation_p.R218W|PKN2_ENST00000370505.3_Missense_Mutation_p.R61W|PKN2_ENST00000370513.5_Missense_Mutation_p.R218W	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	218					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R218W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTTGAACTTCGGATGGAAGA	0.343																																					p.R218W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652T	1						.						78.0	72.0	74.0					1																	89237133		1811	4074	5885	89009721	SO:0001583	missense	5586	exon5			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.652C>T	1.37:g.89237133C>T	ENSP00000359552:p.Arg218Trp		89009721	NM_006256	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014519	0.75161	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.2	5.2	0.72013	.	0.000000	0.38492	U	0.001676	T	0.45377	0.1339	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.992;0.957;0.971	T	0.53251	-0.8465	10	0.87932	D	0	.	13.9901	0.64359	0.1515:0.8485:0.0:0.0	.	218;218;218;218	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	W	218;218;61;218	ENSP00000359552:R218W;ENSP00000317851:R218W;ENSP00000359536:R61W;ENSP00000359544:R218W	ENSP00000317851:R218W	R	+	1	2	PKN2	89009721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.334000	0.59291	2.586000	0.87340	0.655000	0.94253	CGG		0.343	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	
PKN2	5586	broad.mit.edu	37	1	89237429	89237429	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89237429G>T	ENST00000370521.3	+	6	1211	c.852G>T	c.(850-852)aaG>aaT	p.K284N	PKN2_ENST00000316005.7_Missense_Mutation_p.K284N|PKN2_ENST00000370505.3_Missense_Mutation_p.K127N|PKN2_ENST00000370513.5_Missense_Mutation_p.K284N	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	284					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.K284N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAGTCCCCAAGAATCATCCCA	0.368																																					p.K284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	1						.						75.0	70.0	71.0					1																	89237429		1853	4094	5947	89010017	SO:0001583	missense	5586	exon6			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.852G>T	1.37:g.89237429G>T	ENSP00000359552:p.Lys284Asn		89010017	NM_006256	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	CCDS714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.731|9.731	1.162398|1.162398	0.21538|0.21538	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000436111|ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	.|T;T;T;T	.|0.23348	.|1.91;1.91;1.91;2.39	5.05|5.05	2.77|2.77	0.32553|0.32553	.|.	.|0.141162	.|0.31472	.|U	.|0.007581	.|T	.|0.12178	.|0.0296	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B;P;P	.|0.51147	.|0.048;0.023;0.638;0.942	.|B;B;P;P	.|0.49999	.|0.143;0.04;0.447;0.628	.|T	.|0.04115	.|-1.0976	.|10	.|0.49607	.|T	.|0.09	.|.	4.2636|4.2636	0.10752|0.10752	0.4846:0.0:0.5154:0.0|0.4846:0.0:0.5154:0.0	.|.	.|284;284;284;284	.|B4DTP5;E7ESL7;Q16513;B1AL79	.|.;.;PKN2_HUMAN;.	X|N	66|284;284;127;284	.|ENSP00000359552:K284N;ENSP00000317851:K284N;ENSP00000359536:K127N;ENSP00000359544:K284N	.|ENSP00000317851:K284N	E|K	+|+	1|3	0|2	PKN2|PKN2	89010017|89010017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.208000|1.208000	0.32345|0.32345	1.267000|1.267000	0.44247|0.44247	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.368	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256	
RBMXL1	494115	broad.mit.edu	37	1	89448518	89448518	+	Missense_Mutation	SNP	C	C	T	rs549912567		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89448518C>T	ENST00000321792.5	-	2	1419	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	RBMXL1_ENST00000399794.2_Missense_Mutation_p.R331Q|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	331	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R331Q(2)									GAGATCACTTCGGCTGCTTGA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		22019	0.0		0.0	False		,,,				2504	0.001				p.R331Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G992A	1						.						189.0	189.0	189.0					1																	89448518		2203	4300	6503	89221106	SO:0001583	missense	56267	exon2			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.992G>A	1.37:g.89448518C>T	ENSP00000318415:p.Arg331Gln		89221106	NM_019610		Intron	SNP	ENST00000321792.5	37	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206347	0.58343	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.80566	-1.39;-1.39	1.89	0.913	0.19354	.	0.000000	0.64402	D	0.000001	T	0.53965	0.1829	L	0.55834	1.745	0.29706	N	0.839769	D	0.59767	0.986	B	0.39904	0.313	T	0.51204	-0.8735	10	0.40728	T	0.16	-5.3669	5.8921	0.18919	0.0:0.812:0.0:0.188	.	331	Q96E39	RBMXL_HUMAN	Q	331	ENSP00000318415:R331Q;ENSP00000446099:R331Q	ENSP00000318415:R331Q	R	-	2	0	RBMXL1	89221106	1.000000	0.71417	0.797000	0.32132	0.928000	0.56348	4.995000	0.63908	0.132000	0.18615	0.306000	0.20318	CGA		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
GBP3	2635	broad.mit.edu	37	1	89479939	89479939	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89479939C>T	ENST00000370481.4	-	5	672	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	199	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.R151Q(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGATCGGATTCGATGTGTCAG	0.423																																					p.R151Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	1						.						127.0	108.0	114.0					1																	89479939		2203	4300	6503	89252527	SO:0001583	missense	2635	exon5			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.452G>A	1.37:g.89479939C>T	ENSP00000359512:p.Arg151Gln		89252527	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	CCDS717.2	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457772	0.26161	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.61510	0.1	3.98	-0.347	0.12617	Guanylate-binding protein, N-terminal (1);	0.704752	0.13666	N	0.371246	T	0.27489	0.0675	M	0.67625	2.065	0.09310	N	1	P;P	0.48294	0.908;0.809	B;B	0.40864	0.232;0.342	T	0.15752	-1.0426	10	0.23891	T	0.37	.	4.4717	0.11715	0.3027:0.516:0.0:0.1813	.	17;151	F6X827;Q9H0R5	.;GBP3_HUMAN	Q	151	ENSP00000359512:R151Q	ENSP00000235878:R151Q	R	-	2	0	GBP3	89252527	0.000000	0.05858	0.005000	0.12908	0.107000	0.19398	-0.755000	0.04782	-0.151000	0.11176	-0.208000	0.12717	CGA		0.423	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
GBP7	388646	broad.mit.edu	37	1	89598020	89598020	+	Nonsense_Mutation	SNP	G	G	A	rs376019280		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89598020G>A	ENST00000294671.2	-	11	1867	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	577						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R577*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTTTCAGTCGATTAATCTCT	0.368																																					p.R577X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1729T	1						.	G	stop/ARG	0,4406		0,0,2203	108.0	106.0	107.0		1729	-1.7	0.0	1		107	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GBP7	NM_207398.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		577/639	89598020	1,13005	2203	4300	6503	89370608	SO:0001587	stop_gained	388646	exon11			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1729C>T	1.37:g.89598020G>A	ENSP00000294671:p.Arg577*		89370608	NM_207398		Nonsense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078796	0.76528	0.0	1.16E-4	ENSG00000213512	ENST00000294671	.	.	.	4.18	-1.74	0.08056	.	1.808830	0.02588	N	0.099602	.	.	.	.	.	.	0.51767	D	0.999938	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	0.7797	0.01038	0.3111:0.1746:0.3556:0.1587	.	.	.	.	X	577	.	ENSP00000294671:R577X	R	-	1	2	GBP7	89370608	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.043000	0.13971	-0.166000	0.10890	0.563000	0.77884	CGA		0.368	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
GBP7	388646	broad.mit.edu	37	1	89630435	89630435	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89630435C>A	ENST00000294671.2	-	3	435	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	99	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E99D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CACCCAGGCCCTCCGTGTCCA	0.458																																					p.E99D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	1						.						98.0	92.0	94.0					1																	89630435		2203	4300	6503	89403023	SO:0001583	missense	388646	exon3			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.297G>T	1.37:g.89630435C>A	ENSP00000294671:p.Glu99Asp		89403023	NM_207398		Missense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863290	0.51482	.	.	ENSG00000213512	ENST00000294671	T	0.64991	-0.13	3.62	-0.819	0.10829	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77685	0.4167	H	0.98818	4.34	0.33597	D	0.601817	D	0.89917	1.0	D	0.91635	0.999	T	0.70995	-0.4720	10	0.87932	D	0	.	4.4516	0.11623	0.158:0.5592:0.0:0.2828	.	99	Q8N8V2	GBP7_HUMAN	D	99	ENSP00000294671:E99D	ENSP00000294671:E99D	E	-	3	2	GBP7	89403023	0.983000	0.35010	0.349000	0.25694	0.667000	0.39255	0.053000	0.14184	-0.274000	0.09232	0.462000	0.41574	GAG		0.458	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
GBP7	388646	broad.mit.edu	37	1	89637481	89637481	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89637481G>A	ENST00000294671.2	-	2	276	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	46	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L46L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGTGCGGTAGAGGCCCACAA	0.502																																					p.L46L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	1						.						178.0	157.0	164.0					1																	89637481		2203	4300	6503	89410069	SO:0001819	synonymous_variant	388646	exon2			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.138C>T	1.37:g.89637481G>A			89410069	NM_207398		Silent	SNP	ENST00000294671.2	37	CCDS720.1																																																																																				0.502	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
GBP4	115361	broad.mit.edu	37	1	89656988	89656988	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89656988G>A	ENST00000355754.6	-	6	969	c.872C>T	c.(871-873)gCa>gTa	p.A291V		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	291	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A291V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTTGGTCTTTGCATGGGTGAA	0.418																																					p.A291V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C872T	1						.						129.0	134.0	132.0					1																	89656988		2203	4300	6503	89429576	SO:0001583	missense	115361	exon6			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.872C>T	1.37:g.89656988G>A	ENSP00000359490:p.Ala291Val		89429576	NM_052941	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	CCDS721.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669371	0.29693	.	.	ENSG00000162654	ENST00000355754	T	0.76448	-1.02	5.18	2.06	0.26882	Guanylate-binding protein, N-terminal (1);	0.733388	0.12912	N	0.428842	T	0.71126	0.3303	M	0.76002	2.32	0.09310	N	1	P	0.39782	0.688	P	0.49708	0.62	T	0.63060	-0.6721	10	0.40728	T	0.16	.	8.1056	0.30883	0.0912:0.4627:0.4461:0.0	.	291	Q96PP9	GBP4_HUMAN	V	291	ENSP00000359490:A291V	ENSP00000359490:A291V	A	-	2	0	GBP4	89429576	0.005000	0.15991	0.007000	0.13788	0.056000	0.15407	1.377000	0.34317	0.344000	0.23847	0.655000	0.94253	GCA		0.418	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941	
GBP5	115362	broad.mit.edu	37	1	89732233	89732233	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:89732233G>T	ENST00000370459.3	-	6	791	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	GBP5_ENST00000343435.5_Missense_Mutation_p.L222M|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	222	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L222M(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGTATACACAGACGGGGCAAA	0.343																																					p.L222M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664A	1						.						105.0	108.0	107.0					1																	89732233		2203	4300	6503	89504821	SO:0001583	missense	115362	exon6			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.664C>A	1.37:g.89732233G>T	ENSP00000359488:p.Leu222Met		89504821	NM_001134486	B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	9.566	1.119728	0.20877	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.61859	0.07;0.07;0.07	4.45	2.52	0.30459	Guanylate-binding protein, N-terminal (1);	1.846230	0.02456	N	0.086051	T	0.43722	0.1260	M	0.69463	2.115	0.09310	N	1	P	0.44734	0.842	B	0.43990	0.438	T	0.26326	-1.0106	10	0.52906	T	0.07	-0.2797	6.9929	0.24765	0.0939:0.0:0.7173:0.1888	.	222	Q96PP8	GBP5_HUMAN	M	222	ENSP00000340396:L222M;ENSP00000359488:L222M;ENSP00000403010:L222M	ENSP00000340396:L222M	L	-	1	2	GBP5	89504821	0.000000	0.05858	0.113000	0.21522	0.002000	0.02628	0.278000	0.18753	0.775000	0.33450	0.549000	0.68633	CTG		0.343	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942	
LRRC8C	84230	broad.mit.edu	37	1	90179732	90179732	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90179732C>A	ENST00000370454.4	+	3	1858	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	535					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L535I(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAATGTCACCCTTGAGTCTCT	0.468																																					p.L535I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603A	1						.						77.0	78.0	78.0					1																	90179732		2203	4300	6503	89952320	SO:0001583	missense	84230	exon3				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1603C>A	1.37:g.90179732C>A	ENSP00000359483:p.Leu535Ile		89952320	NM_032270	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833758	0.32421	.	.	ENSG00000171488	ENST00000370454	T	0.27402	1.67	5.56	4.65	0.58169	.	0.057548	0.64402	D	0.000004	T	0.20981	0.0505	L	0.47078	1.49	0.49582	D	0.999808	D	0.58268	0.982	P	0.49451	0.611	T	0.01853	-1.1260	10	0.27082	T	0.32	.	12.4562	0.55706	0.0:0.8613:0.0:0.1387	.	535	Q8TDW0	LRC8C_HUMAN	I	535	ENSP00000359483:L535I	ENSP00000359483:L535I	L	+	1	0	LRRC8C	89952320	0.997000	0.39634	0.998000	0.56505	0.952000	0.60782	3.253000	0.51469	1.495000	0.48549	0.644000	0.83932	CTT		0.468	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
LRRC8D	55144	broad.mit.edu	37	1	90399282	90399282	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90399282G>A	ENST00000337338.5	+	3	1062	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E219K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	219					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E219K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GACAGCATGCGAAGACTCAGA	0.448																																					p.E219K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G655A	1						.						60.0	60.0	60.0					1																	90399282		2203	4300	6503	90171870	SO:0001583	missense	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.655G>A	1.37:g.90399282G>A	ENSP00000338887:p.Glu219Lys		90171870	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346078	0.82022	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.53423	1.25;1.25;0.62	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.61749	-0.6999	9	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	219	Q7L1W4	LRC8D_HUMAN	K	219	ENSP00000338887:E219K;ENSP00000378093:E219K;ENSP00000405784:E219K	.	E	+	1	0	LRRC8D	90171870	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAA		0.448	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
LRRC8D	55144	broad.mit.edu	37	1	90400781	90400781	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90400781C>T	ENST00000337338.5	+	3	2561	c.2154C>T	c.(2152-2154)ctC>ctT	p.L718L	LRRC8D_ENST00000394593.3_Silent_p.L718L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	718					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L718L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACAACAAGCTCGAATCCTTAC	0.343																																					p.L718L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2154T	1						.						73.0	76.0	75.0					1																	90400781		2202	4300	6502	90173369	SO:0001819	synonymous_variant	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2154C>T	1.37:g.90400781C>T			90173369	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	CCDS726.1																																																																																				0.343	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
ZNF326	284695	broad.mit.edu	37	1	90484307	90484307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90484307G>T	ENST00000340281.4	+	9	1281	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	ZNF326_ENST00000455342.2_Nonsense_Mutation_p.E174*|ZNF326_ENST00000370447.3_Nonsense_Mutation_p.E291*	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	380					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.E380*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TAATCAAACAGAAGTAGTTAA	0.234																																					p.E380X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1138T	1						.						53.0	60.0	58.0					1																	90484307		2197	4285	6482	90256895	SO:0001587	stop_gained	284695	exon9			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1138G>T	1.37:g.90484307G>T	ENSP00000340796:p.Glu380*		90256895	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Nonsense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	38	7.021920	0.98010	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	.	.	.	5.56	5.56	0.83823	.	0.196487	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-18.5963	19.1298	0.93400	0.0:0.0:1.0:0.0	.	.	.	.	X	380;380;291;174	.	ENSP00000340796:E380X	E	+	1	0	ZNF326	90256895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.778000	0.75043	2.620000	0.88729	0.650000	0.86243	GAA		0.234	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
ZNF326	284695	broad.mit.edu	37	1	90492980	90492980	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90492980A>C	ENST00000340281.4	+	12	1612	c.1469A>C	c.(1468-1470)gAa>gCa	p.E490A	ZNF326_ENST00000455342.2_Missense_Mutation_p.E284A|ZNF326_ENST00000370447.3_Missense_Mutation_p.E401A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	490	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.E490A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAGGAGGATGAAGAGAAGATT	0.408																																					p.E490A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1469C	1						.						108.0	110.0	109.0					1																	90492980		2203	4300	6503	90265568	SO:0001583	missense	284695	exon12			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1469A>C	1.37:g.90492980A>C	ENSP00000340796:p.Glu490Ala		90265568	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.491638	0.44249	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.20069	2.1;2.1;2.1	5.54	5.54	0.83059	.	0.119302	0.56097	D	0.000040	T	0.09202	0.0227	L	0.47716	1.5	0.49582	D	0.999807	P;P	0.45348	0.856;0.682	B;B	0.41510	0.359;0.257	T	0.02950	-1.1090	10	0.06494	T	0.89	-6.6663	15.6544	0.77121	1.0:0.0:0.0:0.0	.	490;490	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	A	490;490;401;284	ENSP00000340796:E490A;ENSP00000359476:E401A;ENSP00000403470:E284A	ENSP00000340796:E490A	E	+	2	0	ZNF326	90265568	1.000000	0.71417	0.955000	0.39395	0.681000	0.39784	3.818000	0.55678	2.101000	0.63845	0.482000	0.46254	GAA		0.408	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
ZNF326	284695	broad.mit.edu	37	1	90493069	90493069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90493069G>T	ENST00000340281.4	+	12	1701	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	ZNF326_ENST00000455342.2_Nonsense_Mutation_p.E314*|ZNF326_ENST00000370447.3_Nonsense_Mutation_p.E431*	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	520	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.E520*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ggaagtggaagaagtagagga	0.488																																					p.E520X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1558T	1						.						72.0	66.0	68.0					1																	90493069		2203	4300	6503	90265657	SO:0001587	stop_gained	284695	exon12			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1558G>T	1.37:g.90493069G>T	ENSP00000340796:p.Glu520*		90265657	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Nonsense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156240	0.94686	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	.	.	.	4.68	4.68	0.58851	.	1.039550	0.07624	N	0.927539	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-0.4592	11.7591	0.51892	0.0:0.179:0.821:0.0	.	.	.	.	X	520;520;431;314	.	ENSP00000340796:E520X	E	+	1	0	ZNF326	90265657	0.678000	0.27586	0.467000	0.27180	0.338000	0.28826	5.435000	0.66532	2.532000	0.85374	0.491000	0.48974	GAA		0.488	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
ZNF326	284695	broad.mit.edu	37	1	90493206	90493206	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:90493206G>T	ENST00000340281.4	+	12	1838	c.1695G>T	c.(1693-1695)gaG>gaT	p.E565D	ZNF326_ENST00000455342.2_Missense_Mutation_p.E359D|ZNF326_ENST00000370447.3_Missense_Mutation_p.E476D	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	565	Glu-rich.				mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.E565D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		tagaggaagagACAGCAAAGG	0.433																																					p.E565D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1695T	1						.						51.0	55.0	54.0					1																	90493206		2203	4300	6503	90265794	SO:0001583	missense	284695	exon12			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1695G>T	1.37:g.90493206G>T	ENSP00000340796:p.Glu565Asp		90265794	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666518	0.29604	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.49139	0.81;0.79;0.79	3.6	1.3	0.21679	.	0.468781	0.15700	N	0.248963	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	B;B	0.30511	0.282;0.282	B;B	0.26416	0.069;0.069	T	0.24368	-1.0162	10	0.33141	T	0.24	-7.3519	5.6507	0.17614	0.6051:0.0:0.3949:0.0	.	565;565	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	D	565;565;476;359	ENSP00000340796:E565D;ENSP00000359476:E476D;ENSP00000403470:E359D	ENSP00000340796:E565D	E	+	3	2	ZNF326	90265794	0.615000	0.27026	0.098000	0.21074	0.065000	0.16274	0.300000	0.19156	0.126000	0.18424	-0.381000	0.06696	GAG		0.433	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
ZNF644	84146	broad.mit.edu	37	1	91403183	91403183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91403183C>A	ENST00000370440.1	-	4	3764	c.3547G>T	c.(3547-3549)Gaa>Taa	p.E1183*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E1183*|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1183					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.E1183*(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAATTCCTTTCTTCTCCCATC	0.358																																					p.E1183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3547T	1						.						86.0	88.0	87.0					1																	91403183		2203	4299	6502	91175771	SO:0001587	stop_gained	84146	exon4			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3547G>T	1.37:g.91403183C>A	ENSP00000359469:p.Glu1183*		91175771	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	42	9.283028	0.99123	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	.	.	.	6.06	6.06	0.98353	.	0.098492	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.3988	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	1183	.	ENSP00000337008:E1183X	E	-	1	0	ZNF644	91175771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.115000	0.57865	2.882000	0.98803	0.655000	0.94253	GAA		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ZNF644	84146	broad.mit.edu	37	1	91404288	91404288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91404288C>A	ENST00000370440.1	-	3	2840	c.2623G>T	c.(2623-2625)Gaa>Taa	p.E875*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E875*|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	875					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.E875*(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTTTCATCTTCTATGGCCTGT	0.358																																					p.E875X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2623T	1						.						93.0	95.0	94.0					1																	91404288		2203	4299	6502	91176876	SO:0001587	stop_gained	84146	exon3			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2623G>T	1.37:g.91404288C>A	ENSP00000359469:p.Glu875*		91176876	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	38	7.037776	0.98021	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	.	.	.	5.45	5.45	0.79879	.	0.262839	0.37483	N	0.002066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.4099	17.4563	0.87608	0.0:1.0:0.0:0.0	.	.	.	.	X	875;875;447	.	ENSP00000337008:E875X	E	-	1	0	ZNF644	91176876	0.999000	0.42202	0.995000	0.50966	0.770000	0.43624	3.422000	0.52749	2.554000	0.86153	0.591000	0.81541	GAA		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ZNF644	84146	broad.mit.edu	37	1	91404496	91404496	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91404496A>G	ENST00000370440.1	-	3	2632	c.2415T>C	c.(2413-2415)cgT>cgC	p.R805R	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.R805R|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	805					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.R805R(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTACAGCTACACGTCTGTGAT	0.383																																					p.R805R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2415C	1						.						69.0	73.0	72.0					1																	91404496		2203	4300	6503	91177084	SO:0001819	synonymous_variant	84146	exon3			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2415T>C	1.37:g.91404496A>G			91177084	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	CCDS731.1																																																																																				0.383	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ZNF644	84146	broad.mit.edu	37	1	91405565	91405565	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91405565G>T	ENST00000370440.1	-	3	1563	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.A449D|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A449D(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTCTACAAGCATATGGCCT	0.403																																					p.A449D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1346A	1						.						109.0	111.0	110.0					1																	91405565		2203	4299	6502	91178153	SO:0001583	missense	84146	exon3			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1346C>A	1.37:g.91405565G>T	ENSP00000359469:p.Ala449Asp		91178153	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163856	0.57476	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.78481	-1.18;-1.18	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.107337	0.64402	D	0.000005	T	0.77758	0.4178	L	0.28740	0.885	0.54753	D	0.99998	D	0.76494	0.999	D	0.87578	0.998	T	0.71758	-0.4496	10	0.18276	T	0.48	-13.814	20.099	0.97865	0.0:0.0:1.0:0.0	.	449	Q9H582	ZN644_HUMAN	D	449;449;21	ENSP00000359469:A449D;ENSP00000337008:A449D	ENSP00000337008:A449D	A	-	2	0	ZNF644	91178153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.375000	0.79646	2.752000	0.94435	0.655000	0.94253	GCT		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
HFM1	164045	broad.mit.edu	37	1	91731611	91731611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91731611C>A	ENST00000370425.3	-	36	4035	c.3937G>T	c.(3937-3939)Gag>Tag	p.E1313*	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E992*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1313					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E1313*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTCTTTGACTCTTGAAGGGGT	0.368																																					p.E1313X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3937T	1						.						171.0	155.0	160.0					1																	91731611		1830	4077	5907	91504199	SO:0001587	stop_gained	164045	exon36			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.3937G>T	1.37:g.91731611C>A	ENSP00000359454:p.Glu1313*		91504199	NM_001017975	B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.694240|8.694240	0.98918|0.98918	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000370424|ENST00000430465	.|.	.|.	.|.	5.18|5.18	2.87|2.87	0.33458|0.33458	.|.	0.655088|.	0.14760|.	N|.	0.300045|.	.|T	.|0.38692	.|0.1050	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33163	.|-0.9879	.|4	0.07990|.	T|.	0.79|.	.|.	5.2351|5.2351	0.15443|0.15443	0.0:0.6984:0.0:0.3016|0.0:0.6984:0.0:0.3016	.|.	.|.	.|.	.|.	X|N	1313;992|524	.|.	ENSP00000359453:E992X|.	E|K	-|-	1|3	0|2	HFM1|HFM1	91504199|91504199	0.992000|0.992000	0.36948|0.36948	0.970000|0.970000	0.41538|0.41538	0.923000|0.923000	0.55619|0.55619	0.474000|0.474000	0.22148|0.22148	1.289000|1.289000	0.44618|0.44618	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.368	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91784910	91784910	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91784910C>T	ENST00000370425.3	-	24	2718	c.2620G>A	c.(2620-2622)Gat>Aat	p.D874N	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D106N|HFM1_ENST00000370424.3_Missense_Mutation_p.D553N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	874	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D874N(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGCAAAATCTTGTATGGGA	0.353																																					p.D874N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2620A	1						.						113.0	108.0	109.0					1																	91784910		2203	4300	6503	91557498	SO:0001583	missense	164045	exon24			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2620G>A	1.37:g.91784910C>T	ENSP00000359454:p.Asp874Asn		91557498	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371964	0.82573	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.59906	0.23;0.23;0.23	5.0	5.0	0.66597	Sec63 domain (2);	0.052941	0.85682	D	0.000000	T	0.71341	0.3328	M	0.70787	2.145	0.58432	D	0.999994	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.81914	0.974;0.954;0.995	T	0.73852	-0.3852	10	0.59425	D	0.04	.	18.6527	0.91437	0.0:1.0:0.0:0.0	.	553;129;874	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	N	874;106;553;558	ENSP00000359454:D874N;ENSP00000294696:D106N;ENSP00000359453:D553N	ENSP00000294696:D106N	D	-	1	0	HFM1	91557498	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.467000	0.83353	0.650000	0.86243	GAT		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91844664	91844664	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91844664C>A	ENST00000370425.3	-	9	1212	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D51Y	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	372	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D372Y(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAAATAGATCATCCATTACT	0.308																																					p.D372Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114T	1						.						88.0	84.0	86.0					1																	91844664		2203	4299	6502	91617252	SO:0001583	missense	164045	exon9			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1114G>T	1.37:g.91844664C>A	ENSP00000359454:p.Asp372Tyr		91617252	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534199	0.85812	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.15487	2.42;2.42	5.42	5.42	0.78866	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.40640	U	0.001042	T	0.48003	0.1476	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.61412	-0.7068	10	0.72032	D	0.01	.	19.2139	0.93768	0.0:1.0:0.0:0.0	.	51;372;372	A6NGI5;B7ZM16;A2PYH4	.;.;HFM1_HUMAN	Y	372;51;56;405	ENSP00000359454:D372Y;ENSP00000359453:D51Y	ENSP00000359450:D56Y	D	-	1	0	HFM1	91617252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.534000	0.85438	0.563000	0.77884	GAT		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91866615	91866615	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91866615A>G	ENST00000370425.3	-	2	123	c.25T>C	c.(25-27)Ttt>Ctt	p.F9L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	9					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F9L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCAAAGAAAACAGGCAATCA	0.259																																					p.F9L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T25C	1						.						38.0	41.0	40.0					1																	91866615		2201	4288	6489	91639203	SO:0001583	missense	164045	exon2			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.25T>C	1.37:g.91866615A>G	ENSP00000359454:p.Phe9Leu		91639203	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716884	0.30413	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000455133	T;T	0.61510	0.1;1.31	5.57	4.43	0.53597	.	.	.	.	.	T	0.17323	0.0416	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.08617	-1.0713	9	0.15499	T	0.54	.	9.6835	0.40085	0.8248:0.1752:0.0:0.0	.	9;9	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	9;42;9;9	ENSP00000359454:F9L;ENSP00000409827:F9L	ENSP00000359454:F9L	F	-	1	0	HFM1	91639203	0.985000	0.35326	0.349000	0.25694	0.586000	0.36452	2.976000	0.49289	0.926000	0.37118	0.454000	0.30748	TTT		0.259	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
CDC7	8317	broad.mit.edu	37	1	91977351	91977351	+	Missense_Mutation	SNP	C	C	A	rs375702482		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:91977351C>A	ENST00000428239.1	+	6	702	c.443C>A	c.(442-444)tCt>tAt	p.S148Y	CDC7_ENST00000234626.6_Missense_Mutation_p.S148Y|CDC7_ENST00000430031.2_Missense_Mutation_p.S120Y	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S148Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		ATTCTGAATTCTCTTTCCTTT	0.303																																					p.S148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C443A	1						.						91.0	89.0	89.0					1																	91977351		2203	4297	6500	91749939	SO:0001583	missense	8317	exon6			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.443C>A	1.37:g.91977351C>A	ENSP00000393139:p.Ser148Tyr		91749939	NM_003503	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696352	0.68386	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	5.78	5.78	0.91487	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.168127	0.56097	D	0.000039	T	0.19046	0.0457	L	0.53780	1.695	0.48341	D	0.99963	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.982	T	0.00351	-1.1796	10	0.45353	T	0.12	-3.8645	20.0114	0.97452	0.0:1.0:0.0:0.0	.	120;148	B7Z5H7;O00311	.;CDC7_HUMAN	Y	120;148;148;148	ENSP00000407477:S120Y;ENSP00000234626:S148Y;ENSP00000393139:S148Y;ENSP00000398077:S148Y	ENSP00000234626:S148Y	S	+	2	0	CDC7	91749939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	2.732000	0.93576	0.591000	0.81541	TCT		0.303	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503	
TGFBR3	7049	broad.mit.edu	37	1	92187527	92187527	+	Missense_Mutation	SNP	G	G	A	rs41305630		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:92187527G>A	ENST00000525962.1	-	7	1121	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	TGFBR3_ENST00000212355.4_Missense_Mutation_p.R354W|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R354W			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	354					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|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 transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R354W(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTTTCAAGCCGAAGATGAAAT	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		15727	0.0		0.001	False		,,,				2504	0.0				p.R354W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060T	1						.	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	81.0	74.0	77.0		1060,1060,1060	0.9	1.0	1	dbSNP_127	77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TGFBR3	NM_001195683.1,NM_001195684.1,NM_003243.4	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	354/851,354/851,354/852	92187527	1,13005	2203	4300	6503	91960115	SO:0001583	missense	7049	exon8			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1060C>T	1.37:g.92187527G>A	ENSP00000436127:p.Arg354Trp		91960115	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	12.97	2.097325	0.37048	0.0	1.16E-4	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.33654	1.41;1.4;1.41;1.4	5.25	0.865	0.19074	.	0.556557	0.19317	N	0.117232	T	0.12050	0.0293	L	0.31926	0.97	0.42463	D	0.992799	B;B;B	0.25521	0.035;0.038;0.128	B;B;B	0.19666	0.017;0.023;0.026	T	0.08597	-1.0714	10	0.56958	D	0.05	-8.9521	8.866	0.35286	0.0702:0.0:0.4494:0.4804	rs41305630	354;354;354	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	W	354	ENSP00000212355:R354W;ENSP00000359426:R354W;ENSP00000436127:R354W;ENSP00000432638:R354W	ENSP00000212355:R354W	R	-	1	2	TGFBR3	91960115	0.141000	0.22595	0.999000	0.59377	0.914000	0.54420	1.694000	0.37752	0.671000	0.31185	0.561000	0.74099	CGG		0.383	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
TGFBR3	7049	broad.mit.edu	37	1	92193247	92193247	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:92193247G>T	ENST00000525962.1	-	6	915	c.854C>A	c.(853-855)tCt>tAt	p.S285Y	TGFBR3_ENST00000212355.4_Missense_Mutation_p.S285Y|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S285Y|TGFBR3_ENST00000468996.2_5'Flank			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	285					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|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 transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S285Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACATCAAAAGATTTGATCAC	0.333																																					p.S285Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C854A	1						.						94.0	89.0	91.0					1																	92193247		2203	4300	6503	91965835	SO:0001583	missense	7049	exon7			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.854C>A	1.37:g.92193247G>T	ENSP00000436127:p.Ser285Tyr		91965835	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718200	0.89205	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	6.16	6.16	0.99307	.	0.205159	0.52532	D	0.000063	T	0.55162	0.1903	M	0.62723	1.935	0.54753	D	0.999987	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.75484	0.931;0.986;0.931	T	0.53387	-0.8446	10	0.87932	D	0	-23.5204	20.8598	0.99761	0.0:0.0:1.0:0.0	.	285;285;285	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	Y	285	ENSP00000212355:S285Y;ENSP00000359426:S285Y;ENSP00000436127:S285Y;ENSP00000432638:S285Y	ENSP00000212355:S285Y	S	-	2	0	TGFBR3	91965835	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.135000	0.64777	2.937000	0.99478	0.650000	0.86243	TCT		0.333	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
TGFBR3	7049	broad.mit.edu	37	1	92195415	92195415	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:92195415C>A	ENST00000525962.1	-	5	745	c.684G>T	c.(682-684)caG>caT	p.Q228H	TGFBR3_ENST00000212355.4_Missense_Mutation_p.Q228H|TGFBR3_ENST00000370399.2_Missense_Mutation_p.Q228H|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	228					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|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 transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.Q228H(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTTCCTCATTCTGGGGCTGGC	0.458																																					p.Q228H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G684T	1						.						228.0	197.0	208.0					1																	92195415		2203	4300	6503	91968003	SO:0001583	missense	7049	exon6			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.684G>T	1.37:g.92195415C>A	ENSP00000436127:p.Gln228His		91968003	NM_001195683	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	8.089	0.774135	0.16051	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.77	1.35	0.21983	.	0.475066	0.26673	N	0.023086	T	0.03520	0.0101	N	0.12746	0.255	0.19300	N	0.999975	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.001	T	0.42565	-0.9444	10	0.11485	T	0.65	-1.191	3.9104	0.09201	0.1118:0.476:0.2438:0.1685	.	228;228;228	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	H	228	ENSP00000212355:Q228H;ENSP00000359426:Q228H;ENSP00000436127:Q228H;ENSP00000432638:Q228H	ENSP00000212355:Q228H	Q	-	3	2	TGFBR3	91968003	0.991000	0.36638	0.582000	0.28627	0.862000	0.49288	0.436000	0.21526	0.342000	0.23796	0.591000	0.81541	CAG		0.458	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
BRDT	676	broad.mit.edu	37	1	92433778	92433778	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:92433778G>T	ENST00000362005.3	+	5	824	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	BRDT_ENST00000402388.1_Nonsense_Mutation_p.E136*|BRDT_ENST00000370389.2_Nonsense_Mutation_p.E63*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.E136*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.E90*	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	136					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.E136*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GATGCCACAAGAAGAGCAAGT	0.373																																					p.E136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G406T	1						.						108.0	111.0	110.0					1																	92433778		2203	4300	6503	92206366	SO:0001587	stop_gained	676	exon4			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.406G>T	1.37:g.92433778G>T	ENSP00000354568:p.Glu136*		92206366	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Nonsense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971566	0.92919	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000394530;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000552654;ENST00000402388	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.4142	19.7538	0.96281	0.0:0.0:1.0:0.0	.	.	.	.	X	136;63;136;136;136;90;136;136;136;136;63;136	.	ENSP00000354568:E136X	E	+	1	0	BRDT	92206366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.853000	0.86934	2.690000	0.91761	0.655000	0.94253	GAA		0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
GLMN	11146	broad.mit.edu	37	1	92757021	92757021	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:92757021T>C	ENST00000370360.3	-	4	320	c.239A>G	c.(238-240)gAt>gGt	p.D80G	GLMN_ENST00000534881.1_Missense_Mutation_p.D80G	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	80					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)	p.D80G(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCTTTTACTATCCTCTTTATC	0.313									Multiple Glomus Tumors (of the Skin), Familial																												p.D80G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A239G	1						.						77.0	75.0	76.0					1																	92757021		2203	4300	6503	92529609	SO:0001583	missense	11146	exon4	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.239A>G	1.37:g.92757021T>C	ENSP00000359385:p.Asp80Gly		92529609	NM_053274	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491065	0.12702	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.47528	0.84;0.84	5.86	3.29	0.37713	.	0.281551	0.44285	N	0.000470	T	0.21267	0.0512	L	0.42245	1.32	0.36050	D	0.840713	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.09751	-1.0660	10	0.62326	D	0.03	-0.6685	8.0846	0.30765	0.1286:0.0712:0.0:0.8003	.	80;80	B4DJ85;Q92990	.;GLMN_HUMAN	G	80	ENSP00000359385:D80G;ENSP00000440156:D80G	ENSP00000359385:D80G	D	-	2	0	GLMN	92529609	0.997000	0.39634	0.768000	0.31515	0.012000	0.07955	2.097000	0.41748	1.034000	0.39945	0.482000	0.46254	GAT		0.313	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070	
EVI5	7813	broad.mit.edu	37	1	93159368	93159368	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93159368T>G	ENST00000370331.1	-	9	1229	c.1220A>C	c.(1219-1221)aAa>aCa	p.K407T	EVI5_ENST00000540033.1_Missense_Mutation_p.K407T|EVI5_ENST00000543509.1_Missense_Mutation_p.K407T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	407	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTTTTTCATTTTTTTTGAATT	0.318																																					p.K407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1220C	1						.						78.0	85.0	83.0					1																	93159368		2202	4296	6498	92931956	SO:0001583	missense	7813	exon9			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1220A>C	1.37:g.93159368T>G	ENSP00000359356:p.Lys407Thr		92931956	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236433	0.79800	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.06371	3.36;3.36;3.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	M	0.82193	2.58	0.58432	D	0.999998	D;D	0.69078	0.997;0.996	D;D	0.69142	0.962;0.917	T	0.01363	-1.1374	10	0.41790	T	0.15	-26.0631	15.5716	0.76341	0.0:0.0:0.0:1.0	.	407;407	F5H4R0;O60447	.;EVI5_HUMAN	T	407;407;407;46	ENSP00000359356:K407T;ENSP00000440826:K407T;ENSP00000445019:K407T	ENSP00000345500:K46T	K	-	2	0	EVI5	92931956	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.289000	0.72696	2.072000	0.62099	0.460000	0.39030	AAA		0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
RPL5	6125	broad.mit.edu	37	1	93306176	93306176	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93306176G>T	ENST00000370321.3	+	7	864	c.774G>T	c.(772-774)aaG>aaT	p.K258N	SNORA66_ENST00000384792.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	258					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K258N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGAAGCCCAAGAAAGAAGTTA	0.398																																					p.K258N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	1						.						85.0	90.0	88.0					1																	93306176		2203	4300	6503	93078764	SO:0001583	missense	6125	exon7			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.774G>T	1.37:g.93306176G>T	ENSP00000359345:p.Lys258Asn		93078764	NM_000969	Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	CCDS741.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297141	0.60086	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	T	0.48836	0.8	5.36	4.45	0.53987	.	0.114107	0.64402	D	0.000016	T	0.60170	0.2248	H	0.94264	3.515	0.80722	D	1	B;B	0.33694	0.421;0.421	P;P	0.44772	0.46;0.46	T	0.69975	-0.4999	10	0.72032	D	0.01	.	14.4608	0.67448	0.0712:0.0:0.9288:0.0	.	258;258	A2RUM7;P46777	.;RL5_HUMAN	N	208;258	ENSP00000359345:K258N	ENSP00000359345:K258N	K	+	3	2	RPL5	93078764	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.134000	0.50538	1.387000	0.46486	0.655000	0.94253	AAG		0.398	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969	
FAM69A	388650	broad.mit.edu	37	1	93312748	93312748	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93312748G>T	ENST00000370310.4	-	4	536	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L156I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCTTAAAGAGACTATAGACC	0.358																																					p.L156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C466A	1						.						56.0	54.0	55.0					1																	93312748		1855	4087	5942	93085336	SO:0001583	missense	388650	exon4			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.466C>A	1.37:g.93312748G>T	ENSP00000359333:p.Leu156Ile		93085336	NM_001006605	Q6IRV2	Missense_Mutation	SNP	ENST00000370310.4	37	CCDS44173.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865674	0.51588	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.46451	0.87	5.7	5.7	0.88788	.	0.117488	0.56097	D	0.000021	T	0.19406	0.0466	L	0.36672	1.1	0.41095	D	0.985623	B;B;B	0.28933	0.099;0.164;0.228	B;B;B	0.27796	0.027;0.027;0.083	T	0.03818	-1.1001	10	0.22706	T	0.39	-7.6758	14.0602	0.64795	0.0739:0.0:0.9261:0.0	.	149;156;156	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	I	156	ENSP00000359333:L156I	ENSP00000359333:L156I	L	-	1	0	FAM69A	93085336	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.199000	0.65152	2.711000	0.92665	0.561000	0.74099	CTC		0.358	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030046.2	NM_001006605	
MTF2	22823	broad.mit.edu	37	1	93575840	93575840	+	Missense_Mutation	SNP	G	G	A	rs189234488		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93575840G>A	ENST00000370298.4	+	2	348	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	MTF2_ENST00000370303.4_Missense_Mutation_p.R20Q|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000545708.1_Intron|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	20					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R20Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CCTTTACGTCGAAACCAAAAG	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16529	0.0		0.0	False		,,,				2504	0.0				p.R20Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G59A	1						.						120.0	118.0	119.0					1																	93575840		2203	4300	6503	93348428	SO:0001583	missense	22823	exon2			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.59G>A	1.37:g.93575840G>A	ENSP00000359321:p.Arg20Gln		93348428	NM_007358	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.47	2.544277	0.45280	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	T;T	0.24538	1.86;1.85	5.44	5.44	0.79542	.	0.340379	0.31963	N	0.006797	T	0.06962	0.0177	N	0.13043	0.29	0.80722	D	1	P;P	0.40107	0.499;0.703	B;B	0.23716	0.048;0.044	T	0.13980	-1.0489	10	0.28530	T	0.3	-1.9025	19.2694	0.94003	0.0:0.0:1.0:0.0	.	20;20	B1AKT6;Q9Y483	.;MTF2_HUMAN	Q	20	ENSP00000359321:R20Q;ENSP00000359326:R20Q	ENSP00000359321:R20Q	R	+	2	0	MTF2	93348428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.932000	0.75869	2.563000	0.86464	0.557000	0.71058	CGA		0.433	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
MTF2	22823	broad.mit.edu	37	1	93594851	93594851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93594851G>T	ENST00000370298.4	+	11	1295	c.1006G>T	c.(1006-1008)Gaa>Taa	p.E336*	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E234*|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E234*|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	336					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E336*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTCTGGGAAAGAAATAAAGAA	0.328																																					p.E336X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1006T	1						.						65.0	68.0	67.0					1																	93594851		2203	4300	6503	93367439	SO:0001587	stop_gained	22823	exon11			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1006G>T	1.37:g.93594851G>T	ENSP00000359321:p.Glu336*		93367439	NM_007358	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Nonsense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	40	8.293903	0.98747	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953	.	.	.	5.55	5.55	0.83447	.	0.095807	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.5793	19.8683	0.96840	0.0:0.0:1.0:0.0	.	.	.	.	X	234;234;336;234	.	ENSP00000359321:E336X	E	+	1	0	MTF2	93367439	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.724000	0.91462	2.753000	0.94483	0.655000	0.94253	GAA		0.328	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
MTF2	22823	broad.mit.edu	37	1	93599333	93599333	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93599333A>C	ENST00000370298.4	+	12	1523	c.1234A>C	c.(1234-1236)Aaa>Caa	p.K412Q	MTF2_ENST00000370303.4_Missense_Mutation_p.K355Q|MTF2_ENST00000540243.1_Missense_Mutation_p.K310Q|MTF2_ENST00000545708.1_Missense_Mutation_p.K310Q|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	412					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K412Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		ATATACAAGAAAAATGATTCA	0.353																																					p.K412Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1234C	1						.						90.0	93.0	92.0					1																	93599333		2203	4300	6503	93371921	SO:0001583	missense	22823	exon12			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1234A>C	1.37:g.93599333A>C	ENSP00000359321:p.Lys412Gln		93371921	NM_007358	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589194	0.28357	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.31769	1.48;1.48;1.89;1.89	5.1	5.1	0.69264	.	0.159187	0.56097	D	0.000037	T	0.08758	0.0217	N	0.24115	0.695	0.47065	D	0.999303	P;B;P	0.42735	0.675;0.329;0.788	B;B;B	0.30401	0.099;0.085;0.115	T	0.09552	-1.0669	10	0.24483	T	0.36	-8.914	15.19	0.73035	1.0:0.0:0.0:0.0	.	355;412;310	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	Q	310;310;412;355	ENSP00000444962:K310Q;ENSP00000443295:K310Q;ENSP00000359321:K412Q;ENSP00000359326:K355Q	ENSP00000359321:K412Q	K	+	1	0	MTF2	93371921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.797000	0.55514	2.045000	0.60652	0.533000	0.62120	AAA		0.353	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
TMED5	50999	broad.mit.edu	37	1	93621874	93621874	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93621874T>C	ENST00000370282.3	-	3	939	c.454A>G	c.(454-456)Aaa>Gaa	p.K152E	TMED5_ENST00000483033.1_5'UTR|TMED5_ENST00000370280.1_Missense_Mutation_p.K152E|TMED5_ENST00000479918.1_Missense_Mutation_p.K152E	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	152					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K152E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TCTTCCAGTTTCATATCCAAT	0.333																																					p.K152E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454G	1						.						156.0	146.0	149.0					1																	93621874		2203	4300	6503	93394462	SO:0001583	missense	50999	exon3			BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.454A>G	1.37:g.93621874T>C	ENSP00000359305:p.Lys152Glu		93394462	NM_001167830	B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	CCDS743.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756750	0.89843	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000535517;ENST00000370280	T;T;T	0.54279	2.21;2.45;0.58	5.57	4.43	0.53597	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.91635	0.999;0.897	T	0.73477	-0.3970	10	0.87932	D	0	-12.3834	11.9132	0.52751	0.1306:0.0:0.0:0.8694	.	152;152	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	E	152;152;101;152	ENSP00000359305:K152E;ENSP00000418992:K152E;ENSP00000359303:K152E	ENSP00000359303:K152E	K	-	1	0	TMED5	93394462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	0.918000	0.36919	0.528000	0.53228	AAA		0.333	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040	
CCDC18	343099	broad.mit.edu	37	1	93683309	93683309	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93683309G>T	ENST00000343253.7	+	14	2344	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	CCDC18_ENST00000401026.3_Missense_Mutation_p.K615N|CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000557479.1_Missense_Mutation_p.K733N|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	614								p.K733N(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGAATGAAAAGATAAGGAGTC	0.353																																					p.K733N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2199T	1						.						49.0	47.0	48.0					1																	93683309		1814	4076	5890	93455897	SO:0001583	missense	343099	exon14					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1842G>T	1.37:g.93683309G>T	ENSP00000343377:p.Lys614Asn		93455897	NM_206886	Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.980881|2.980881	0.53827|0.53827	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	T;T;T|.	0.14766|.	2.48;2.48;2.48|.	4.97|4.97	0.86|0.86	0.19042|0.19042	.|.	0.261970|.	0.35013|.	N|.	0.003507|.	T|T	0.36082|0.36082	0.0954|0.0954	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.14023|.	0.01|.	T|T	0.21930|0.21930	-1.0231|-1.0231	10|5	0.33940|.	T|.	0.23|.	.|.	4.6191|4.6191	0.12440|0.12440	0.3393:0.2851:0.3756:0.0|0.3393:0.2851:0.3756:0.0	.|.	733|.	G3V388|.	.|.	N|I	614;615;733|668	ENSP00000343377:K614N;ENSP00000383808:K615N;ENSP00000451099:K733N|.	ENSP00000343377:K614N|.	K|R	+|+	3|2	2|0	CCDC18|CCDC18	93455897|93455897	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	0.730000|0.730000	0.26043|0.26043	-0.026000|-0.026000	0.13895|0.13895	-0.165000|-0.165000	0.13383|0.13383	AAG|AGA		0.353	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
DNTTIP2	30836	broad.mit.edu	37	1	94343039	94343039	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94343039G>T	ENST00000436063.2	-	2	509	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S151Y(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACAATTCTAGAAATACCTGA	0.398																																					p.S151Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C452A	1						.						108.0	98.0	101.0					1																	94343039		1840	4091	5931	94115627	SO:0001583	missense	30836	exon2			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.452C>A	1.37:g.94343039G>T	ENSP00000411010:p.Ser151Tyr		94115627	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949530	0.73787	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.41758	0.99	5.23	5.23	0.72850	.	0.103731	0.43579	D	0.000557	T	0.57844	0.2081	M	0.71581	2.175	0.36108	D	0.844627	D	0.89917	1.0	D	0.73380	0.98	T	0.62774	-0.6783	10	0.87932	D	0	.	17.2351	0.86996	0.0:0.0:1.0:0.0	.	151	Q5QJE6	TDIF2_HUMAN	Y	151;158	ENSP00000411010:S151Y	ENSP00000352137:S151Y	S	-	2	0	DNTTIP2	94115627	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.179000	0.71974	2.736000	0.93811	0.644000	0.83932	TCT		0.398	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
DNTTIP2	30836	broad.mit.edu	37	1	94343207	94343207	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94343207G>T	ENST00000436063.2	-	2	341	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S95Y(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTCAGACACAGAATAATTTGA	0.453																																					p.S95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	1						.						98.0	92.0	94.0					1																	94343207		1917	4124	6041	94115795	SO:0001583	missense	30836	exon2			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.284C>A	1.37:g.94343207G>T	ENSP00000411010:p.Ser95Tyr		94115795	NM_014597	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387166	0.61956	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.36157	1.27	4.91	3.99	0.46301	.	0.112747	0.40385	N	0.001111	T	0.43122	0.1233	M	0.71581	2.175	0.25334	N	0.989003	D	0.71674	0.998	D	0.62955	0.909	T	0.37384	-0.9708	10	0.87932	D	0	.	13.5507	0.61730	0.0:0.1743:0.8257:0.0	.	95	Q5QJE6	TDIF2_HUMAN	Y	95;102	ENSP00000411010:S95Y	ENSP00000352137:S95Y	S	-	2	0	DNTTIP2	94115795	1.000000	0.71417	0.981000	0.43875	0.888000	0.51559	4.479000	0.60236	1.267000	0.44247	0.644000	0.83932	TCT		0.453	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597	
ABCA4	24	broad.mit.edu	37	1	94502739	94502739	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94502739G>T	ENST00000370225.3	-	25	3861	c.3775C>A	c.(3775-3777)Ctc>Atc	p.L1259I		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1259					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.L1259I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAACTGCTGAGACCAAGGTCA	0.463																																					p.L1259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3775A	1						.						98.0	102.0	101.0					1																	94502739		2203	4300	6503	94275327	SO:0001583	missense	24	exon25			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3775C>A	1.37:g.94502739G>T	ENSP00000359245:p.Leu1259Ile		94275327	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963483	0.34659	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	T	0.72942	-0.7	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	N	0.20986	0.625	0.80722	D	1	B	0.28233	0.204	B	0.27715	0.082	T	0.46345	-0.9198	10	0.10636	T	0.68	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	1259	P78363	ABCA4_HUMAN	I	51;1259	ENSP00000359245:L1259I	ENSP00000359245:L1259I	L	-	1	0	ABCA4	94275327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.376000	0.66178	2.793000	0.96121	0.561000	0.74099	CTC		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94543389	94543389	+	Nonsense_Mutation	SNP	C	C	A	rs1800548	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94543389C>A	ENST00000370225.3	-	11	1497	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.E471*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	471			E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548). {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E471*(1)|p.E471K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTAATACCTTCTTCACCAAGC	0.463																																					p.E471X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G1411T	1	GRCh37	CM970001	ABCA4	M	rs1800548	.						162.0	157.0	159.0					1																	94543389		2203	4300	6503	94315977	SO:0001587	stop_gained	24	exon11			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1411G>T	1.37:g.94543389C>A	ENSP00000359245:p.Glu471*		94315977	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	39	7.569069	0.98365	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	4.94	4.94	0.65067	.	0.252125	0.40554	N	0.001067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000359245:E471X	E	-	1	0	ABCA4	94315977	0.855000	0.29742	1.000000	0.80357	0.991000	0.79684	1.629000	0.37071	2.726000	0.93360	0.655000	0.94253	GAA		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94546039	94546039	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94546039C>A	ENST00000370225.3	-	8	1180	c.1094G>T	c.(1093-1095)aGa>aTa	p.R365I	ABCA4_ENST00000535735.1_Missense_Mutation_p.R365I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	365					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R365I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTACTTGTTCTTCTGTCATA	0.418																																					p.R365I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1094T	1						.						104.0	109.0	107.0					1																	94546039		2203	4300	6503	94318627	SO:0001583	missense	24	exon8			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1094G>T	1.37:g.94546039C>A	ENSP00000359245:p.Arg365Ile		94318627	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846592	0.32606	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91631	-2.76;-2.88	5.12	2.0	0.26442	.	6.560840	0.00166	N	0.000004	D	0.88276	0.6393	L	0.56769	1.78	0.41207	D	0.986416	B;B	0.18741	0.023;0.03	B;B	0.18263	0.021;0.011	T	0.70051	-0.4978	10	0.56958	D	0.05	.	17.3209	0.87235	0.0:0.3846:0.6154:0.0	.	365;365	F5H6E5;P78363	.;ABCA4_HUMAN	I	365	ENSP00000359245:R365I;ENSP00000437682:R365I	ENSP00000359245:R365I	R	-	2	0	ABCA4	94318627	0.994000	0.37717	1.000000	0.80357	0.912000	0.54170	0.209000	0.17435	0.703000	0.31848	0.650000	0.86243	AGA		0.418	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCA4	24	broad.mit.edu	37	1	94564544	94564544	+	Missense_Mutation	SNP	C	C	T	rs61748535	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94564544C>T	ENST00000370225.3	-	6	660	c.574G>A	c.(574-576)Gct>Act	p.A192T	ABCA4_ENST00000535735.1_Missense_Mutation_p.A192T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	192			A -> T (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A192T(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACTCCATGAGCGAACTGCAGG	0.582													C|||	8	0.00159744	0.0061	0.0	5008	,	,		18898	0.0		0.0	False		,,,				2504	0.0				p.A192T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	1	GRCh37	CM014807	ABCA4	M	rs61748535	.	C	THR/ALA	18,4388	26.2+/-53.5	0,18,2185	27.0	26.0	26.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	574	5.8	1.0	1	dbSNP_129	26	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCA4	NM_000350.2	58	0,19,6484	TT,TC,CC		0.0116,0.4085,0.1461	probably-damaging	192/2274	94564544	19,12987	2203	4300	6503	94337132	SO:0001583	missense	24	exon6			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.574G>A	1.37:g.94564544C>T	ENSP00000359245:p.Ala192Thr		94337132	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	20.7	4.033238	0.75504	0.004085	1.16E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91124	-2.67;-2.79	5.83	5.83	0.93111	.	0.056355	0.64402	D	0.000001	D	0.85678	0.5752	M	0.64404	1.975	0.58432	D	0.999998	P;D	0.55172	0.744;0.97	B;B	0.41813	0.18;0.367	D	0.84225	0.0463	10	0.20519	T	0.43	.	17.9044	0.88914	0.0:1.0:0.0:0.0	rs61748535	192;192	F5H6E5;P78363	.;ABCA4_HUMAN	T	192	ENSP00000359245:A192T;ENSP00000437682:A192T	ENSP00000359245:A192T	A	-	1	0	ABCA4	94337132	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.449000	0.80643	2.757000	0.94681	0.563000	0.77884	GCT		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ARHGAP29	9411	broad.mit.edu	37	1	94645468	94645468	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94645468C>A	ENST00000260526.6	-	20	2475	c.2293G>T	c.(2293-2295)Gac>Tac	p.D765Y	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	765	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.D765Y(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTGCAAGGTCTATAAATTCC	0.294																																					p.D765Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2293T	1						.						113.0	109.0	110.0					1																	94645468		2202	4293	6495	94418056	SO:0001583	missense	9411	exon20				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2293G>T	1.37:g.94645468C>A	ENSP00000260526:p.Asp765Tyr		94418056	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607017	0.87157	.	.	ENSG00000137962	ENST00000260526	T	0.19669	2.13	6.07	6.07	0.98685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.40908	D	0.000996	T	0.39145	0.1067	L	0.60067	1.865	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.72982	0.834;0.979	T	0.06789	-1.0807	10	0.72032	D	0.01	-14.1366	20.6439	0.99570	0.0:1.0:0.0:0.0	.	765;765	F8VWZ8;Q52LW3	.;RHG29_HUMAN	Y	765	ENSP00000260526:D765Y	ENSP00000260526:D765Y	D	-	1	0	ARHGAP29	94418056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.336000	0.79245	2.890000	0.99128	0.650000	0.86243	GAC		0.294	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
ARHGAP29	9411	broad.mit.edu	37	1	94650597	94650597	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:94650597C>T	ENST00000260526.6	-	18	2122	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	647					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.R647Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAAACACTTTCGATGACAAAC	0.353																																					p.R647Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1940A	1						.						50.0	51.0	51.0					1																	94650597		2202	4300	6502	94423185	SO:0001583	missense	9411	exon18				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1940G>A	1.37:g.94650597C>T	ENSP00000260526:p.Arg647Gln		94423185	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283467	0.59867	.	.	ENSG00000137962	ENST00000260526	D	0.92495	-3.05	5.39	2.11	0.27256	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.382752	0.15801	N	0.243965	T	0.79621	0.4477	L	0.39898	1.24	0.80722	D	1	P;P	0.51791	0.948;0.897	B;B	0.40444	0.176;0.329	T	0.77419	-0.2595	10	0.87932	D	0	-4.049	5.3515	0.16038	0.0:0.4106:0.0:0.5894	.	647;647	F8VWZ8;Q52LW3	.;RHG29_HUMAN	Q	647	ENSP00000260526:R647Q	ENSP00000260526:R647Q	R	-	2	0	ARHGAP29	94423185	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	4.346000	0.59367	0.641000	0.30601	0.557000	0.71058	CGA		0.353	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
F3	2152	broad.mit.edu	37	1	95005898	95005898	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:95005898T>C	ENST00000334047.7	-	2	290	c.127A>G	c.(127-129)Aat>Gat	p.N43D	F3_ENST00000370207.4_Missense_Mutation_p.N43D|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	43					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)	p.N43D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CAAGTTAAATTATATGCTGCC	0.368																																					p.N43D	Melanoma(40;358 1339 15970 39161)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A127G	1						.						124.0	125.0	125.0					1																	95005898		2203	4300	6503	94778486	SO:0001583	missense	2152	exon2			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.127A>G	1.37:g.95005898T>C	ENSP00000334145:p.Asn43Asp		94778486	NM_001993	D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	CCDS750.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516245	0.44763	.	.	ENSG00000117525	ENST00000334047;ENST00000370207	T;T	0.77877	-1.13;-1.13	4.9	3.77	0.43336	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.050335	0.85682	N	0.000000	T	0.70159	0.3192	M	0.82716	2.605	0.38837	D	0.955977	P;P	0.38711	0.643;0.472	B;B	0.41860	0.288;0.368	T	0.72962	-0.4132	10	0.72032	D	0.01	.	7.2499	0.26144	0.0:0.1023:0.0:0.8977	.	43;43	P13726-2;P13726	.;TF_HUMAN	D	43	ENSP00000334145:N43D;ENSP00000359226:N43D	ENSP00000334145:N43D	N	-	1	0	F3	94778486	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.888000	0.39708	0.729000	0.32403	0.460000	0.39030	AAT		0.368	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993	
SLC44A3	126969	broad.mit.edu	37	1	95307663	95307663	+	Missense_Mutation	SNP	G	G	A	rs186467911		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:95307663G>A	ENST00000271227.6	+	8	970	c.868G>A	c.(868-870)Gta>Ata	p.V290I	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.V254I|SLC44A3_ENST00000527077.1_Missense_Mutation_p.V222I|SLC44A3_ENST00000467909.1_Missense_Mutation_p.V242I|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.V210I|SLC44A3_ENST00000529450.1_Missense_Mutation_p.V258I	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	290					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V242I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GTTTGCTATCGTATCCACAGG	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17828	0.0		0.0	False		,,,				2504	0.0				p.V290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	1						.	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	145.0	144.0	144.0		868,724	2.7	0.0	1		144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC44A3	NM_001114106.1,NM_152369.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	290/654,242/606	95307663	1,13005	2203	4300	6503	95080251	SO:0001583	missense	126969	exon8			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.868G>A	1.37:g.95307663G>A	ENSP00000271227:p.Val290Ile		95080251	NM_001114106	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	CCDS44176.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.892	-0.725154	0.03158	0.0	1.16E-4	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.97	2.71	0.32032	.	0.442572	0.21370	N	0.075646	T	0.01523	0.0049	N	0.03253	-0.375	0.09310	N	1	B;B;B;B;B	0.22800	0.016;0.017;0.016;0.075;0.075	B;B;B;B;B	0.16722	0.012;0.004;0.012;0.016;0.016	T	0.46762	-0.9168	10	0.02654	T	1	-6.8436	4.7945	0.13265	0.3429:0.0:0.5214:0.1357	.	210;254;222;258;290	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	I	254;290;222;258;242;210	ENSP00000389143:V254I;ENSP00000271227:V290I;ENSP00000433641:V222I;ENSP00000431836:V258I;ENSP00000432789:V242I;ENSP00000436661:V210I	ENSP00000271227:V290I	V	+	1	0	SLC44A3	95080251	0.006000	0.16342	0.002000	0.10522	0.010000	0.07245	-0.018000	0.12568	0.650000	0.30769	0.655000	0.94253	GTA		0.443	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369	
RWDD3	25950	broad.mit.edu	37	1	95710051	95710051	+	Missense_Mutation	SNP	A	A	C	rs138509057		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:95710051A>C	ENST00000370202.4	+	2	446	c.370A>C	c.(370-372)Agt>Cgt	p.S124R	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Missense_Mutation_p.S109R|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.S124R	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	124					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S124R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		TGGCAGTGGCAGTGAAAAGTG	0.438																																					p.S124R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A370C	1						.						107.0	102.0	104.0					1																	95710051		1947	4130	6077	95482639	SO:0001583	missense	25950	exon2			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.370A>C	1.37:g.95710051A>C	ENSP00000359221:p.Ser124Arg		95482639	NM_001199682	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	0.534	-0.856386	0.02630	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	T;T;T	0.33865	1.39;1.43;1.4	5.38	-5.53	0.02552	.	1.677590	0.02325	N	0.073392	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.16802	0.001;0.001;0.0;0.019;0.0	B;B;B;B;B	0.12156	0.001;0.001;0.0;0.007;0.001	T	0.14811	-1.0459	10	0.18710	T	0.47	0.4062	0.9194	0.01311	0.2608:0.2714:0.1228:0.345	.	109;124;124;109;124	E7ES73;Q9Y3V2;D3DT49;Q9Y3V2-3;Q9Y3V2-2	.;RWDD3_HUMAN;.;.;.	R	124;109;124	ENSP00000359221:S124R;ENSP00000397398:S109R;ENSP00000263893:S124R	ENSP00000263893:S124R	S	+	1	0	RWDD3	95482639	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.566000	0.05922	-0.478000	0.06823	-0.274000	0.10170	AGT		0.438	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	
PTBP2	58155	broad.mit.edu	37	1	97235373	97235373	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:97235373C>A	ENST00000426398.2	+	4	273	c.230C>A	c.(229-231)gCt>gAt	p.A77D	PTBP2_ENST00000394184.3_Missense_Mutation_p.A88D|PTBP2_ENST00000370198.1_Missense_Mutation_p.A77D|PTBP2_ENST00000370197.1_Missense_Mutation_p.A77D|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Missense_Mutation_p.A77D|PTBP2_ENST00000541987.1_Missense_Mutation_p.A46D	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A77D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GAAGTTATTGCTTTAGGCTTA	0.358																																					p.A77D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230A	1						.						113.0	123.0	120.0					1																	97235373		2203	4300	6503	97007961	SO:0001583	missense	58155	exon4			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.230C>A	1.37:g.97235373C>A	ENSP00000412788:p.Ala77Asp		97007961	NM_021190	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091190	0.94149	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.77489	0.89;0.9;0.9;0.88;0.9;-1.1	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.81408	0.4816	M	0.62209	1.925	0.58432	D	0.999992	P;B;B;B;B;B;P	0.45212	0.853;0.322;0.275;0.425;0.109;0.371;0.797	P;B;B;B;B;B;P	0.52267	0.694;0.202;0.056;0.395;0.094;0.444;0.588	T	0.81839	-0.0748	10	0.66056	D	0.02	-3.2824	20.3736	0.98901	0.0:1.0:0.0:0.0	.	85;88;77;77;77;77;99	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	D	77;77;77;77;88;46;67	ENSP00000236228:A77D;ENSP00000359217:A77D;ENSP00000359216:A77D;ENSP00000412788:A77D;ENSP00000377738:A88D;ENSP00000442475:A46D	ENSP00000236228:A77D	A	+	2	0	PTBP2	97007961	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.956000	0.70315	2.820000	0.97059	0.650000	0.86243	GCT		0.358	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		
DPYD	1806	broad.mit.edu	37	1	97544684	97544684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:97544684C>A	ENST00000370192.3	-	23	3026	c.2926G>T	c.(2926-2928)Gaa>Taa	p.E976*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	976	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.E976*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGGTGGGTTTCTGGATCAAAC	0.443																																					p.E976X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2926T	1						.						172.0	168.0	169.0					1																	97544684		2203	4300	6503	97317272	SO:0001587	stop_gained	1806	exon23			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2926G>T	1.37:g.97544684C>A	ENSP00000359211:p.Glu976*		97317272	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	39	7.832616	0.98513	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.46	4.53	0.55603	.	0.113614	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-26.7776	15.1505	0.72692	0.0:0.9286:0.0:0.0714	.	.	.	.	X	976	.	ENSP00000359211:E976X	E	-	1	0	DPYD	97317272	0.998000	0.40836	0.988000	0.46212	0.924000	0.55760	3.894000	0.56250	2.735000	0.93741	0.561000	0.74099	GAA		0.443	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
DPYD	1806	broad.mit.edu	37	1	97770900	97770900	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:97770900G>T	ENST00000370192.3	-	18	2314	c.2214C>A	c.(2212-2214)gtC>gtA	p.V738V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	738					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.V738V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCAGACCTGAGACAGTGTTGG	0.468																																					p.V738V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2214A	1						.						202.0	170.0	181.0					1																	97770900		2203	4300	6503	97543488	SO:0001819	synonymous_variant	1806	exon18			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2214C>A	1.37:g.97770900G>T			97543488	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.468	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
DPYD	1806	broad.mit.edu	37	1	97981361	97981361	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:97981361G>A	ENST00000370192.3	-	13	1761	c.1661C>T	c.(1660-1662)gCc>gTc	p.A554V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	554					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A554V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGTGCTGGTGGCTGGAGTTGC	0.413																																					p.A554V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1661T	1						.						68.0	64.0	65.0					1																	97981361		2203	4300	6503	97753949	SO:0001583	missense	1806	exon13			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1661C>T	1.37:g.97981361G>A	ENSP00000359211:p.Ala554Val		97753949	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397304	0.62177	.	.	ENSG00000188641	ENST00000370192	D	0.85171	-1.95	5.2	5.2	0.72013	Aldolase-type TIM barrel (1);	0.187267	0.49916	D	0.000133	T	0.75079	0.3801	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.72308	-0.4332	10	0.62326	D	0.03	-6.0199	19.0953	0.93248	0.0:0.0:1.0:0.0	.	554	Q12882	DPYD_HUMAN	V	554	ENSP00000359211:A554V	ENSP00000359211:A554V	A	-	2	0	DPYD	97753949	1.000000	0.71417	0.899000	0.35326	0.928000	0.56348	9.301000	0.96167	2.595000	0.87683	0.585000	0.79938	GCC		0.413	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PALMD	54873	broad.mit.edu	37	1	100133249	100133249	+	Nonsense_Mutation	SNP	G	G	T	rs143990967	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100133249G>T	ENST00000263174.4	+	3	553	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	PALMD_ENST00000605497.1_Nonsense_Mutation_p.E60*	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	60					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.E60*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CAGCGGAAAAGAACAGGAAGA	0.413																																					p.E60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G178T	1						.						174.0	166.0	169.0					1																	100133249		2203	4300	6503	99905837	SO:0001587	stop_gained	54873	exon3			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.178G>T	1.37:g.100133249G>T	ENSP00000263174:p.Glu60*		99905837	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Nonsense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881116	0.98539	.	.	ENSG00000099260	ENST00000263174	.	.	.	5.75	5.75	0.90469	.	0.104779	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.4458	16.8478	0.85985	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000263174:E60X	E	+	1	0	PALMD	99905837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.809000	0.69172	2.721000	0.93114	0.655000	0.94253	GAA		0.413	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
PALMD	54873	broad.mit.edu	37	1	100152251	100152251	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100152251G>T	ENST00000263174.4	+	4	646	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	PALMD_ENST00000605497.1_Missense_Mutation_p.D91Y	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	91					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)		p.D91Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAGATCCAAGATCTTGAAAA	0.358																																					p.D91Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271T	1						.						73.0	79.0	77.0					1																	100152251		2203	4300	6503	99924839	SO:0001583	missense	54873	exon4			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.271G>T	1.37:g.100152251G>T	ENSP00000263174:p.Asp91Tyr		99924839	NM_017734	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	CCDS758.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707519	0.68615	.	.	ENSG00000099260	ENST00000263174	T	0.17370	2.28	5.87	4.96	0.65561	.	0.487637	0.22068	N	0.065064	T	0.11537	0.0281	N	0.22421	0.69	0.35872	D	0.828279	D	0.53885	0.963	P	0.51487	0.671	T	0.03933	-1.0991	10	0.59425	D	0.04	-10.6691	15.2083	0.73198	0.0675:0.0:0.9325:0.0	.	91	Q9NP74	PALMD_HUMAN	Y	91	ENSP00000263174:D91Y	ENSP00000263174:D91Y	D	+	1	0	PALMD	99924839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.294000	0.43567	1.616000	0.50265	0.655000	0.94253	GAT		0.358	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734	
FRRS1	391059	broad.mit.edu	37	1	100206481	100206481	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:100206481C>A	ENST00000414213.1	-	6	1045	c.444G>T	c.(442-444)gaG>gaT	p.E148D	FRRS1_ENST00000287474.5_Missense_Mutation_p.E148D			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	148	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.E148D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTTTATACTTCTCAACAACTG	0.358																																					p.E148D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G444T	1						.						157.0	159.0	158.0					1																	100206481		2203	4300	6503	99979069	SO:0001583	missense	391059	exon6			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.444G>T	1.37:g.100206481C>A	ENSP00000393884:p.Glu148Asp		99979069	NM_001013660	A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	C	10.89	1.479035	0.26511	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.58	4.67	0.58626	.	0.246870	0.40728	N	0.001031	T	0.20170	0.0485	L	0.28400	0.85	0.32154	N	0.583794	P	0.35821	0.523	B	0.37731	0.257	T	0.09729	-1.0661	9	0.45353	T	0.12	-16.6234	9.1069	0.36703	0.0:0.7807:0.0:0.2193	.	148	Q6ZNA5-2	.	D	148	.	ENSP00000287474:E148D	E	-	3	2	FRRS1	99979069	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	1.870000	0.39529	1.364000	0.46038	-0.137000	0.14449	GAG		0.358	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660	
ZNF692	55657	broad.mit.edu	37	1	249150502	249150502	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:249150502C>T	ENST00000306601.4	-	6	810	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ZNF692_ENST00000366469.5_Missense_Mutation_p.S215N|ZNF692_ENST00000451251.1_Missense_Mutation_p.S220N|ZNF692_ENST00000427146.1_Intron|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Intron	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S215N(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TGGGGAGGAGCTGTAGGTCCA	0.547																																					p.S215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	1						.						190.0	159.0	170.0					1																	249150502		2203	4300	6503	247117125	SO:0001583	missense	55657	exon6			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.644G>A	1.37:g.249150502C>T	ENSP00000305483:p.Ser215Asn		247117125	NM_017865	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607499	0.66558	.	.	ENSG00000171163	ENST00000306601;ENST00000366469;ENST00000451251	T;T;T	0.07800	3.17;3.21;3.16	4.72	4.72	0.59763	.	0.429783	0.24492	N	0.038045	T	0.12561	0.0305	L	0.46157	1.445	0.80722	D	1	P;P	0.51057	0.941;0.941	P;P	0.49597	0.616;0.616	T	0.09751	-1.0660	10	0.19147	T	0.46	-9.053	13.3852	0.60791	0.0:1.0:0.0:0.0	.	220;215	B4DXZ0;Q9BU19	.;ZN692_HUMAN	N	215;215;220	ENSP00000305483:S215N;ENSP00000355425:S215N;ENSP00000391200:S220N	ENSP00000305483:S215N	S	-	2	0	ZNF692	247117125	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.666000	0.54540	2.626000	0.88956	0.462000	0.41574	AGC		0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
TRPC6	7225	broad.mit.edu	37	11	101323728	101323728	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101323728C>A	ENST00000344327.3	-	13	3178	c.2754G>T	c.(2752-2754)gaG>gaT	p.E918D	TRPC6_ENST00000348423.4_Missense_Mutation_p.E802D|TRPC6_ENST00000532133.1_Missense_Mutation_p.E840D|TRPC6_ENST00000360497.4_Missense_Mutation_p.E863D	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	918					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E918D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGATAATTTCTCTCCAAGTT	0.353																																					p.E918D	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2754T	11						.						186.0	186.0	186.0					11																	101323728		2202	4300	6502	100828938	SO:0001583	missense	7225	exon13			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2754G>T	11.37:g.101323728C>A	ENSP00000340913:p.Glu918Asp		100828938	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.227361	0.39399	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79454	-1.13;-1.21;-1.02;-1.27	5.65	2.73	0.32206	.	0.218369	0.46758	D	0.000266	T	0.65004	0.2650	L	0.31065	0.9	0.39260	D	0.964197	B;P	0.48911	0.074;0.917	B;B	0.44278	0.023;0.445	T	0.61417	-0.7067	10	0.41790	T	0.15	-19.5621	5.8836	0.18868	0.0:0.591:0.1387:0.2703	.	802;918	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	D	918;840;802;863	ENSP00000340913:E918D;ENSP00000435574:E840D;ENSP00000343672:E802D;ENSP00000353687:E863D	ENSP00000340913:E918D	E	-	3	2	TRPC6	100828938	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	1.050000	0.30404	0.320000	0.23234	-0.145000	0.13849	GAG		0.353	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
TRPC6	7225	broad.mit.edu	37	11	101324431	101324431	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101324431C>T	ENST00000344327.3	-	12	3018	c.2594G>A	c.(2593-2595)aGa>aAa	p.R865K	TRPC6_ENST00000348423.4_Missense_Mutation_p.R749K|TRPC6_ENST00000532133.1_Missense_Mutation_p.R787K|TRPC6_ENST00000360497.4_Missense_Mutation_p.R810K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	865					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R865K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGTACATATCTTTTAATGAG	0.408																																					p.R865K	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2594A	11						.						165.0	145.0	152.0					11																	101324431		2202	4300	6502	100829641	SO:0001583	missense	7225	exon12			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2594G>A	11.37:g.101324431C>T	ENSP00000340913:p.Arg865Lys		100829641	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	36	5.816497	0.96982	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	6.04	6.04	0.98038	.	0.086933	0.85682	D	0.000000	D	0.94765	0.8310	M	0.86343	2.81	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.80764	0.994;0.994;0.986	D	0.94577	0.7776	10	0.87932	D	0	-10.2182	20.6437	0.99549	0.0:1.0:0.0:0.0	.	810;749;865	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	K	865;787;749;810	ENSP00000340913:R865K;ENSP00000435574:R787K;ENSP00000343672:R749K;ENSP00000353687:R810K	ENSP00000340913:R865K	R	-	2	0	TRPC6	100829641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.515000	0.81761	2.890000	0.99128	0.650000	0.86243	AGA		0.408	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
MUC6	4588	broad.mit.edu	37	11	1018764	1018764	+	Missense_Mutation	SNP	G	G	A	rs369767214		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:1018764G>A	ENST00000421673.2	-	31	4087	c.4037C>T	c.(4036-4038)tCg>tTg	p.S1346L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1346	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S1346L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGATTGGTCGATTTTGCTGT	0.532																																					p.S1346L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4037T	11						.	G	LEU/SER	0,4350		0,0,2175	182.0	187.0	185.0		4037	1.0	0.0	11		185	1,8537		0,1,4268	no	missense	MUC6	NM_005961.2	145	0,1,6443	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	1346/2440	1018764	1,12887	2175	4269	6444	1008764	SO:0001583	missense	4588	exon31			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4037C>T	11.37:g.1018764G>A	ENSP00000406861:p.Ser1346Leu		1008764	NM_005961	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656340	0.29425	0.0	1.17E-4	ENSG00000184956	ENST00000421673	T	0.21543	2.0	1.03	1.03	0.20045	.	.	.	.	.	T	0.10165	0.0249	N	0.19112	0.55	0.09310	N	1	B	0.33694	0.421	B	0.15052	0.012	T	0.21042	-1.0257	9	0.33940	T	0.23	.	7.8974	0.29715	0.0:0.0:1.0:0.0	.	1346	Q6W4X9	MUC6_HUMAN	L	1346	ENSP00000406861:S1346L	ENSP00000406861:S1346L	S	-	2	0	MUC6	1008764	0.000000	0.05858	0.003000	0.11579	0.091000	0.18340	-1.014000	0.03641	0.878000	0.35920	0.305000	0.20034	TCG		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
TRPC6	7225	broad.mit.edu	37	11	101344387	101344387	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101344387C>T	ENST00000344327.3	-	7	2286	c.1862G>A	c.(1861-1863)gGa>gAa	p.G621E	TRPC6_ENST00000348423.4_Missense_Mutation_p.G505E|TRPC6_ENST00000532133.1_Missense_Mutation_p.G543E|TRPC6_ENST00000360497.4_Missense_Mutation_p.G566E	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	621					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G621E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGCAGAGGTCCAAAGCTTTC	0.358																																					p.G621E	Colon(166;1315 1927 11094 12848 34731)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862A	11						.						97.0	95.0	96.0					11																	101344387		2203	4298	6501	100849597	SO:0001583	missense	7225	exon7			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1862G>A	11.37:g.101344387C>T	ENSP00000340913:p.Gly621Glu		100849597	NM_004621	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872623	0.91587	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98493	-2.48;-4.96;-4.96;-4.96	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98748	1.0719	10	0.87932	D	0	-9.3113	20.2985	0.98592	0.0:1.0:0.0:0.0	.	566;505;621	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	E	621;543;505;566	ENSP00000340913:G621E;ENSP00000435574:G543E;ENSP00000343672:G505E;ENSP00000353687:G566E	ENSP00000340913:G621E	G	-	2	0	TRPC6	100849597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.807000	0.86032	2.793000	0.96121	0.655000	0.94253	GGA		0.358	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
ANGPTL5	253935	broad.mit.edu	37	11	101762130	101762130	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101762130G>T	ENST00000334289.3	-	9	1642	c.1047C>A	c.(1045-1047)ttC>ttA	p.F349L		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	349	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.F349L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		ATTTTCCAGAGAAGTGATGAA	0.418																																					p.F349L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1047A	11						.						171.0	170.0	170.0					11																	101762130		2203	4299	6502	101267340	SO:0001583	missense	253935	exon9			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1047C>A	11.37:g.101762130G>T	ENSP00000335255:p.Phe349Leu		101267340	NM_178127	A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081351	0.20309	.	.	ENSG00000187151	ENST00000334289	T	0.76578	-1.03	5.25	0.125	0.14718	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.620223	0.17419	N	0.174893	T	0.51975	0.1706	N	0.05078	-0.115	0.09310	N	1	B	0.19331	0.035	B	0.24394	0.053	T	0.38265	-0.9669	10	0.11182	T	0.66	.	9.1231	0.36799	0.3713:0.0:0.6287:0.0	.	349	Q86XS5	ANGL5_HUMAN	L	349	ENSP00000335255:F349L	ENSP00000335255:F349L	F	-	3	2	ANGPTL5	101267340	0.015000	0.18098	0.011000	0.14972	0.934000	0.57294	0.154000	0.16343	-0.020000	0.14032	0.650000	0.86243	TTC		0.418	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
KIAA1377	57562	broad.mit.edu	37	11	101833848	101833848	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101833848C>A	ENST00000263468.8	+	6	2352	c.2082C>A	c.(2080-2082)atC>atA	p.I694I	KIAA1377_ENST00000537689.1_Silent_p.I495I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	694								p.I694I(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGATTCTATCTCTGAAAATG	0.398																																					p.I694I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2082A	11						.						102.0	102.0	102.0					11																	101833848		2203	4299	6502	101339058	SO:0001819	synonymous_variant	57562	exon6			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2082C>A	11.37:g.101833848C>A			101339058	NM_020802	Q4G0U6	Silent	SNP	ENST00000263468.8	37	CCDS31658.1																																																																																				0.398	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
KIAA1377	57562	broad.mit.edu	37	11	101852681	101852681	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:101852681C>A	ENST00000263468.8	+	8	3290	c.3020C>A	c.(3019-3021)tCt>tAt	p.S1007Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S808Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1007								p.S1007Y(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGGGTACTTCTTATATTGAA	0.303																																					p.S1007Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3020A	11						.						38.0	37.0	37.0					11																	101852681		2202	4292	6494	101357891	SO:0001583	missense	57562	exon8			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3020C>A	11.37:g.101852681C>A	ENSP00000263468:p.Ser1007Tyr		101357891	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.663|8.663	0.900920|0.900920	0.17760|0.17760	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000532077|ENST00000263468;ENST00000537689	.|T;T	.|0.08546	.|3.08;3.08	4.8|4.8	3.87|3.87	0.44632|0.44632	.|.	.|0.434122	.|0.22024	.|N	.|0.065685	T|T	0.17195|0.17195	0.0413|0.0413	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	.|D	.|0.64830	.|0.994	.|P	.|0.60682	.|0.878	T|T	0.02288|0.02288	-1.1182|-1.1182	5|10	.|0.87932	.|D	.|0	-0.2998|-0.2998	10.8853|10.8853	0.46964|0.46964	0.0:0.8085:0.1915:0.0|0.0:0.8085:0.1915:0.0	.|.	.|1007	.|Q9P2H0	.|K1377_HUMAN	L|Y	40|1007;808	.|ENSP00000263468:S1007Y;ENSP00000443184:S808Y	.|ENSP00000263468:S1007Y	F|S	+|+	3|2	2|0	KIAA1377|KIAA1377	101357891|101357891	0.347000|0.347000	0.24853|0.24853	0.015000|0.015000	0.15790|0.15790	0.023000|0.023000	0.10783|0.10783	0.951000|0.951000	0.29135|0.29135	0.962000|0.962000	0.38057|0.38057	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.303	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
BIRC3	330	broad.mit.edu	37	11	102195260	102195260	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102195260G>T	ENST00000263464.3	+	2	2770	c.20G>T	c.(19-21)aGc>aTc	p.S7I	BIRC3_ENST00000532808.1_Missense_Mutation_p.S7I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	7					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S7I(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTAGAAAACAGCATATTCTTA	0.373			T	MALT1	MALT																																p.S7I			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G20T	11						.						97.0	92.0	94.0					11																	102195260		2203	4299	6502	101700470	SO:0001583	missense	330	exon3			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.20G>T	11.37:g.102195260G>T	ENSP00000263464:p.Ser7Ile		101700470	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957975	0.34565	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.23950	1.88;1.88	6.06	5.12	0.69794	.	0.144353	0.85682	D	0.000000	T	0.27594	0.0678	L	0.48362	1.52	0.46260	D	0.99895	B	0.27951	0.195	B	0.31245	0.126	T	0.05886	-1.0858	10	0.87932	D	0	-23.7445	15.1265	0.72486	0.0:0.0:0.7473:0.2527	.	7	Q13489	BIRC3_HUMAN	I	7	ENSP00000263464:S7I;ENSP00000432907:S7I	ENSP00000263464:S7I	S	+	2	0	BIRC3	101700470	0.994000	0.37717	0.869000	0.34112	0.331000	0.28603	3.102000	0.50291	2.871000	0.98454	0.655000	0.94253	AGC		0.373	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
BIRC3	330	broad.mit.edu	37	11	102195755	102195755	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102195755G>T	ENST00000263464.3	+	2	3265	c.515G>T	c.(514-516)aGa>aTa	p.R172I	BIRC3_ENST00000532808.1_Missense_Mutation_p.R172I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	172					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R172I(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAAAATGCCAGATTACTTACT	0.423			T	MALT1	MALT																																p.R172I			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515T	11						.						126.0	129.0	128.0					11																	102195755		2203	4299	6502	101700965	SO:0001583	missense	330	exon3			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.515G>T	11.37:g.102195755G>T	ENSP00000263464:p.Arg172Ile		101700965	NM_182962	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453939	0.63290	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	D;D	0.96300	-3.97;-3.97	5.4	5.4	0.78164	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	10	0.87932	D	0	.	19.3682	0.94473	0.0:0.0:1.0:0.0	.	172	Q13489	BIRC3_HUMAN	I	172;172;21	ENSP00000263464:R172I;ENSP00000432907:R172I	ENSP00000263464:R172I	R	+	2	0	BIRC3	101700965	1.000000	0.71417	0.850000	0.33497	0.019000	0.09904	9.191000	0.94940	2.818000	0.97014	0.591000	0.81541	AGA		0.423	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
BIRC3	330	broad.mit.edu	37	11	102201750	102201750	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102201750G>T	ENST00000263464.3	+	6	3852	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	BIRC3_ENST00000532808.1_Nonsense_Mutation_p.E368*	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	368					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E368K(1)|p.E368*(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGAACCTGGAGAAGACCATTC	0.333			T	MALT1	MALT																																p.E368X			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G1102T	11						.						69.0	72.0	71.0					11																	102201750		2203	4299	6502	101706960	SO:0001587	stop_gained	330	exon7			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1102G>T	11.37:g.102201750G>T	ENSP00000263464:p.Glu368*		101706960	NM_182962	Q16628|Q9HC27|Q9UP46	Nonsense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764626	0.69878	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000527309	.	.	.	5.28	5.28	0.74379	.	0.042995	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.4164	0.55496	0.0763:0.0:0.9237:0.0	.	.	.	.	X	368;368;172	.	ENSP00000263464:E368X	E	+	1	0	BIRC3	101706960	1.000000	0.71417	0.970000	0.41538	0.204000	0.24138	7.315000	0.78998	2.741000	0.93983	0.561000	0.74099	GAA		0.333	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
BIRC2	329	broad.mit.edu	37	11	102248244	102248244	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102248244C>T	ENST00000227758.2	+	7	2783	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.R413W|BIRC2_ENST00000532672.1_Missense_Mutation_p.R441W	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	462	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R462W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCATTAATTCGGAAGAACAG	0.303																																					p.R462W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384T	11						.						69.0	73.0	72.0					11																	102248244		2194	4294	6488	101753454	SO:0001583	missense	329	exon7			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1384C>T	11.37:g.102248244C>T	ENSP00000227758:p.Arg462Trp		101753454	NM_001166	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710948	0.68730	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	6.04	6.04	0.98038	DEATH-like (2);Caspase Recruitment (3);	0.050625	0.85682	D	0.000000	T	0.44477	0.1295	M	0.80028	2.48	0.53005	D	0.999969	B	0.30326	0.276	B	0.42163	0.378	T	0.40194	-0.9576	10	0.87932	D	0	-19.651	16.1156	0.81304	0.1342:0.8658:0.0:0.0	.	462	Q13490	BIRC2_HUMAN	W	413;124;462;462;441	ENSP00000431723:R413W;ENSP00000433851:R124W;ENSP00000227758:R462W;ENSP00000434979:R441W	ENSP00000227758:R462W	R	+	1	2	BIRC2	101753454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.168000	0.42424	2.876000	0.98609	0.650000	0.86243	CGG		0.303	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166	
TMEM123	114908	broad.mit.edu	37	11	102272375	102272375	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102272375G>T	ENST00000398136.2	-	4	917	c.497C>A	c.(496-498)aCt>aAt	p.T166N	TMEM123_ENST00000525577.1_5'Flank|TMEM123_ENST00000361236.3_Missense_Mutation_p.T147N|TMEM123_ENST00000532161.1_Missense_Mutation_p.T78N	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	166					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T166N(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AAAGCTCCCAGTATCAAATTT	0.328																																					p.T166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497A	11						.						89.0	84.0	85.0					11																	102272375		1802	4078	5880	101777585	SO:0001583	missense	114908	exon4			AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.497C>A	11.37:g.102272375G>T	ENSP00000381204:p.Thr166Asn		101777585	NM_052932	Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495044	0.64186	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969	T;T;T;T	0.42900	0.96;1.89;0.96;0.96	6.04	-2.25	0.06888	.	0.713366	0.13176	N	0.407844	T	0.48804	0.1520	L	0.39898	1.24	0.09310	N	0.999999	D;D	0.76494	0.998;0.999	D;D	0.67548	0.914;0.952	T	0.48340	-0.9044	10	0.52906	T	0.07	-5.7603	11.5771	0.50869	0.5644:0.0:0.4356:0.0	.	147;166	Q8N131-2;Q8N131	.;PORIM_HUMAN	N	147;166;78;78	ENSP00000355285:T147N;ENSP00000381204:T166N;ENSP00000435331:T78N;ENSP00000434976:T78N	ENSP00000355285:T147N	T	-	2	0	TMEM123	101777585	0.026000	0.19158	0.687000	0.30102	0.984000	0.73092	0.301000	0.19174	-0.339000	0.08401	0.563000	0.77884	ACT		0.328	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932	
MMP27	64066	broad.mit.edu	37	11	102562686	102562686	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102562686C>A	ENST00000260229.4	-	10	1444	c.1353G>T	c.(1351-1353)aaG>aaT	p.K451N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	451					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K451N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GGGTAATATTCTTTGTCTTAA	0.338																																					p.K451N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1353T	11						.						103.0	93.0	97.0					11																	102562686		2203	4296	6499	102067896	SO:0001583	missense	64066	exon10			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1353G>T	11.37:g.102562686C>A	ENSP00000260229:p.Lys451Asn		102067896	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255944	0.39896	.	.	ENSG00000137675	ENST00000260229	T	0.14893	2.47	5.97	4.84	0.62591	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000002	T	0.16642	0.0400	M	0.64170	1.965	0.46823	D	0.999217	B	0.34161	0.439	B	0.32677	0.15	T	0.04440	-1.0951	10	0.38643	T	0.18	.	6.3648	0.21449	0.0:0.6628:0.1417:0.1955	.	451	Q9H306	MMP27_HUMAN	N	451	ENSP00000260229:K451N	ENSP00000260229:K451N	K	-	3	2	MMP27	102067896	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.195000	0.32186	1.178000	0.42870	0.591000	0.81541	AAG		0.338	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
MMP8	4317	broad.mit.edu	37	11	102586132	102586132	+	Silent	SNP	G	G	A	rs530920765		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102586132G>A	ENST00000236826.3	-	7	1037	c.939C>T	c.(937-939)gtC>gtT	p.V313V		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	313					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.V313V(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AATTCATTTCGACTCTTTGTA	0.398																																					p.V313V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	11						.						107.0	96.0	100.0					11																	102586132		2203	4299	6502	102091342	SO:0001819	synonymous_variant	4317	exon7			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.939C>T	11.37:g.102586132G>A			102091342	NM_002424	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	3.447	-0.112775	0.06881	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1067	0.30890	0.5878:0.2137:0.1393:0.0592	.	.	.	.	X	289	.	.	R	-	1	2	MMP8	102091342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.508000	0.00447	-3.667000	0.00124	-0.157000	0.13467	CGA		0.398	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
MMP10	4319	broad.mit.edu	37	11	102647027	102647027	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102647027G>T	ENST00000279441.4	-	6	952	c.916C>A	c.(916-918)Ctg>Atg	p.L306M		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	306					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L306M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TTAAAGAACAGATATTCTCCC	0.418																																					p.L306M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916A	11						.						74.0	73.0	74.0					11																	102647027		2203	4299	6502	102152237	SO:0001583	missense	4319	exon6			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.916C>A	11.37:g.102647027G>T	ENSP00000279441:p.Leu306Met		102152237	NM_002425	B2R9X9|Q53HH9	Missense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	G	2.558	-0.302485	0.05495	.	.	ENSG00000166670	ENST00000279441	T	0.02525	4.26	4.33	1.44	0.22558	Hemopexin/matrixin (2);	0.429445	0.16950	N	0.192930	T	0.05410	0.0143	L	0.39326	1.205	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34750	-0.9816	10	0.09843	T	0.71	.	2.7164	0.05188	0.4103:0.0:0.3834:0.2063	.	306	P09238	MMP10_HUMAN	M	306	ENSP00000279441:L306M	ENSP00000279441:L306M	L	-	1	2	MMP10	102152237	0.000000	0.05858	0.708000	0.30435	0.315000	0.28087	-0.499000	0.06413	0.576000	0.29452	-0.151000	0.13558	CTG		0.418	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
MMP10	4319	broad.mit.edu	37	11	102647132	102647132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102647132C>A	ENST00000279441.4	-	6	847	c.811G>T	c.(811-813)Gaa>Taa	p.E271*		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	271					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E271*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	ACCAGGGGTTCCTCAGTAGAG	0.478																																					p.E271X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G811T	11						.						74.0	72.0	73.0					11																	102647132		2203	4299	6502	102152342	SO:0001587	stop_gained	4319	exon6			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.811G>T	11.37:g.102647132C>A	ENSP00000279441:p.Glu271*		102152342	NM_002425	B2R9X9|Q53HH9	Nonsense_Mutation	SNP	ENST00000279441.4	37	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770973	0.69992	.	.	ENSG00000166670	ENST00000279441	.	.	.	4.27	3.31	0.37934	.	1.648230	0.03703	N	0.248851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5387	0.22369	0.0:0.7093:0.1806:0.1101	.	.	.	.	X	271	.	ENSP00000279441:E271X	E	-	1	0	MMP10	102152342	0.000000	0.05858	0.003000	0.11579	0.150000	0.21749	0.780000	0.26760	1.047000	0.40274	0.650000	0.86243	GAA		0.478	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		
MMP1	4312	broad.mit.edu	37	11	102661215	102661215	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102661215T>G	ENST00000315274.6	-	10	1405	c.1338A>C	c.(1336-1338)aaA>aaC	p.K446N	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	446					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K446N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TAGGATCAAATTTGTATTGTC	0.299																																					p.K380N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1140C	11						.						107.0	101.0	103.0					11																	102661215		2202	4299	6501	102166425	SO:0001583	missense	4312	exon10			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1338A>C	11.37:g.102661215T>G	ENSP00000322788:p.Lys446Asn		102166425	NM_001145938	P08156	Missense_Mutation	SNP	ENST00000315274.6	37	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	t	19.77	3.889718	0.72524	.	.	ENSG00000196611	ENST00000315274	T	0.02763	4.17	6.17	5.05	0.67936	Hemopexin/matrixin (2);	0.329841	0.29900	N	0.010903	T	0.12135	0.0295	M	0.83223	2.63	0.27137	N	0.961748	D	0.56521	0.976	P	0.59221	0.854	T	0.07195	-1.0785	10	0.72032	D	0.01	.	8.8409	0.35142	0.0:0.1561:0.0:0.8439	.	446	P03956	MMP1_HUMAN	N	446	ENSP00000322788:K446N	ENSP00000322788:K446N	K	-	3	2	MMP1	102166425	0.988000	0.35896	1.000000	0.80357	0.951000	0.60555	1.135000	0.31454	1.161000	0.42604	-0.250000	0.11733	AAA		0.299	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
MMP3	4314	broad.mit.edu	37	11	102709431	102709431	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102709431G>T	ENST00000299855.5	-	8	1336	c.1080C>A	c.(1078-1080)ttC>ttA	p.F360L	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	360					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F360L(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGATAGCCCAGAATTGATTTC	0.393																																					p.F360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1080A	11						.						60.0	57.0	58.0					11																	102709431		2203	4299	6502	102214641	SO:0001583	missense	4314	exon8			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1080C>A	11.37:g.102709431G>T	ENSP00000299855:p.Phe360Leu		102214641	NM_002422	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	CCDS8323.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.08|16.08	3.022908|3.022908	0.54683|0.54683	.|.	.|.	ENSG00000149968|ENSG00000149968	ENST00000299855|ENST00000434103	T|.	0.03035|.	4.07|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Hemopexin/matrixin (2);|.	0.232955|.	0.21996|.	U|.	0.066071|.	T|T	0.79417|0.79417	0.4442|0.4442	M|M	0.88377|0.88377	2.95|2.95	0.38296|0.38296	D|D	0.942841|0.942841	B|.	0.16603|.	0.018|.	B|.	0.35688|.	0.208|.	D|D	0.83792|0.83792	0.0231|0.0231	10|5	0.66056|.	D|.	0.02|.	.|.	13.3264|13.3264	0.60463|0.60463	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	360|.	P08254|.	MMP3_HUMAN|.	L|Y	360|4	ENSP00000299855:F360L|.	ENSP00000299855:F360L|.	F|S	-|-	3|2	2|0	MMP3|MMP3	102214641|102214641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.797000|0.797000	0.45037|0.45037	3.500000|3.500000	0.53318|0.53318	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
MMP13	4322	broad.mit.edu	37	11	102822868	102822868	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102822868G>A	ENST00000260302.3	-	5	700	c.672C>T	c.(670-672)ttC>ttT	p.F224F	MMP13_ENST00000340273.4_Silent_p.F224F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	224	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F224F(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGAGTGGCCGAACTCATGCG	0.443																																					p.F224F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C672T	11						.						167.0	158.0	161.0					11																	102822868		2202	4299	6501	102328078	SO:0001819	synonymous_variant	4322	exon5			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.672C>T	11.37:g.102822868G>A			102328078	NM_002427	A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	CCDS8324.1																																																																																				0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
DYNC2H1	79659	broad.mit.edu	37	11	102984323	102984323	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102984323G>T	ENST00000375735.2	+	2	397	c.253G>T	c.(253-255)Gta>Tta	p.V85L	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V85L|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V85L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	85	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.V85L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCGACCTGAAGTAATTACTGA	0.333																																					p.V85L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253T	11						.						166.0	162.0	163.0					11																	102984323		1861	4106	5967	102489533	SO:0001583	missense	79659	exon2			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.253G>T	11.37:g.102984323G>T	ENSP00000364887:p.Val85Leu		102489533	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205376	0.58234	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.33216	1.67;1.42;1.67	6.17	6.17	0.99709	.	0.000000	0.51477	U	0.000081	T	0.35008	0.0917	M	0.76002	2.32	0.47949	D	0.999554	P;B;B	0.36990	0.577;0.077;0.098	B;B;B	0.34301	0.179;0.068;0.099	T	0.08086	-1.0739	10	0.32370	T	0.25	.	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	85;85;85	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	L	85	ENSP00000364887:V85L;ENSP00000334021:V85L;ENSP00000381167:V85L	ENSP00000334021:V85L	V	+	1	0	DYNC2H1	102489533	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.205000	0.72148	2.941000	0.99782	0.655000	0.94253	GTA		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	102985944	102985944	+	Nonsense_Mutation	SNP	G	G	T	rs35318378		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:102985944G>T	ENST00000375735.2	+	4	685	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E181*|DYNC2H1_ENST00000334267.7_Nonsense_Mutation_p.E181*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	181	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E181*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTTTGGATAGAACAAGCTCA	0.313																																					p.E181X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G541T	11						.						65.0	54.0	58.0					11																	102985944		1809	4070	5879	102491154	SO:0001587	stop_gained	79659	exon4			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.541G>T	11.37:g.102985944G>T	ENSP00000364887:p.Glu181*		102491154	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	37	6.186634	0.97357	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	.	.	.	5.28	4.35	0.52113	.	0.293642	0.25564	U	0.029814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.1972	0.73100	0.0:0.0:0.858:0.142	.	.	.	.	X	181	.	ENSP00000334021:E181X	E	+	1	0	DYNC2H1	102491154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.909000	0.92647	1.199000	0.43173	0.655000	0.94253	GAA		0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103019293	103019293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103019293G>T	ENST00000375735.2	+	20	3037	c.2893G>T	c.(2893-2895)Gaa>Taa	p.E965*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E965*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	965	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTCTGTGGAAGAAATTGGTGA	0.338																																					p.E965X												.	.	0			c.G2893T	11						.						68.0	59.0	62.0					11																	103019293		1823	4081	5904	102524503	SO:0001587	stop_gained	79659	exon20			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2893G>T	11.37:g.103019293G>T	ENSP00000364887:p.Glu965*		102524503	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	42	9.346498	0.99143	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.75	5.75	0.90469	.	0.324591	0.26345	U	0.024915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	965	.	ENSP00000364887:E965X	E	+	1	0	DYNC2H1	102524503	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.648000	0.91062	2.717000	0.92951	0.585000	0.79938	GAA		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103029471	103029471	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103029471G>T	ENST00000375735.2	+	27	4337	c.4193G>T	c.(4192-4194)aGa>aTa	p.R1398I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R1398I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1398	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTGGAATAAGAAATTCTCTA	0.264																																					p.R1398I												.	.	0			c.G4193T	11						.						15.0	15.0	15.0					11																	103029471		1769	4010	5779	102534681	SO:0001583	missense	79659	exon27			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4193G>T	11.37:g.103029471G>T	ENSP00000364887:p.Arg1398Ile		102534681	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060462	0.55432	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60548	0.18;0.18	5.49	5.49	0.81192	Dynein heavy chain, domain-2 (1);	0.381500	0.16297	U	0.220631	T	0.59473	0.2196	L	0.58302	1.8	0.80722	D	1	P;P	0.43231	0.589;0.801	B;P	0.45449	0.392;0.481	T	0.53837	-0.8382	10	0.23302	T	0.38	.	14.5747	0.68238	0.0719:0.0:0.9281:0.0	.	1398;1398	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	1398	ENSP00000364887:R1398I;ENSP00000381167:R1398I	ENSP00000364887:R1398I	R	+	2	0	DYNC2H1	102534681	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.150000	0.64869	2.582000	0.87167	0.655000	0.94253	AGA		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103040901	103040901	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103040901C>A	ENST00000375735.2	+	33	5177	c.5033C>A	c.(5032-5034)gCc>gAc	p.A1678D	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.A1678D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1678	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTCACTCAAGCCATGAAGATG	0.418																																					p.A1678D												.	.	0			c.C5033A	11						.						87.0	83.0	84.0					11																	103040901		1884	4109	5993	102546111	SO:0001583	missense	79659	exon33			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5033C>A	11.37:g.103040901C>A	ENSP00000364887:p.Ala1678Asp		102546111	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450861	0.84209	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.10099	2.91;2.91	5.54	5.54	0.83059	.	.	.	.	.	T	0.51432	0.1674	H	0.97340	3.985	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.975	T	0.70117	-0.4960	9	0.87932	D	0	.	19.4742	0.94979	0.0:1.0:0.0:0.0	.	1678;1678	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	1678	ENSP00000364887:A1678D;ENSP00000381167:A1678D	ENSP00000364887:A1678D	A	+	2	0	DYNC2H1	102546111	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.995000	0.70631	2.602000	0.87976	0.585000	0.79938	GCC		0.418	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103075663	103075663	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103075663G>T	ENST00000375735.2	+	52	8568	c.8424G>T	c.(8422-8424)atG>atT	p.M2808I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M2808I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2808	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.M241I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTGTGGATGGAGGGTTGGT	0.313																																					p.M2808I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8424T	11						.						58.0	55.0	56.0					11																	103075663		1830	4077	5907	102580873	SO:0001583	missense	79659	exon52			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8424G>T	11.37:g.103075663G>T	ENSP00000364887:p.Met2808Ile		102580873	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720926	0.48728	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.37235	1.21;1.21	4.85	4.85	0.62838	Dynein heavy chain, P-loop containing D4 domain (1);	0.065981	0.56097	U	0.000023	T	0.39410	0.1077	M	0.64567	1.98	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.15870	0.014;0.007	T	0.32640	-0.9899	10	0.59425	D	0.04	.	16.1472	0.81578	0.0:0.0:1.0:0.0	.	2808;2808	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2808	ENSP00000364887:M2808I;ENSP00000381167:M2808I	ENSP00000364887:M2808I	M	+	3	0	DYNC2H1	102580873	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.568000	0.98166	2.245000	0.73994	0.655000	0.94253	ATG		0.313	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103093773	103093773	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103093773A>G	ENST00000375735.2	+	59	9455	c.9311A>G	c.(9310-9312)gAa>gGa	p.E3104G	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3104G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3104	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E537G(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATGTCTTGGAACGAATTCAT	0.393																																					p.E3104G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9311G	11						.						74.0	69.0	71.0					11																	103093773		1861	4110	5971	102598983	SO:0001583	missense	79659	exon59			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9311A>G	11.37:g.103093773A>G	ENSP00000364887:p.Glu3104Gly		102598983	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.841841	0.91197	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.73789	-0.78;-0.78	5.81	5.81	0.92471	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.89448	0.3728	10	0.51188	T	0.08	.	16.1501	0.81611	1.0:0.0:0.0:0.0	.	3104;3104	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	3104	ENSP00000364887:E3104G;ENSP00000381167:E3104G	ENSP00000364887:E3104G	E	+	2	0	DYNC2H1	102598983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.870000	0.92336	2.219000	0.72066	0.533000	0.62120	GAA		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DYNC2H1	79659	broad.mit.edu	37	11	103182627	103182627	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103182627G>T	ENST00000375735.2	+	79	11658	c.11514G>T	c.(11512-11514)aaG>aaT	p.K3838N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3845N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3838	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K1278N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTTAAAGAAGAATTTAATGC	0.323																																					p.K3838N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11514T	11						.						56.0	53.0	54.0					11																	103182627		1811	4074	5885	102687837	SO:0001583	missense	79659	exon79			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11514G>T	11.37:g.103182627G>T	ENSP00000364887:p.Lys3838Asn		102687837	NM_001377	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174737	0.57692	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.08458	3.09;3.09	4.69	3.78	0.43462	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	L	0.49571	1.57	0.53005	D	0.999966	P;P	0.41131	0.624;0.739	B;B	0.42692	0.395;0.343	T	0.02950	-1.1090	10	0.56958	D	0.05	.	11.2189	0.48842	0.1557:0.0:0.8443:0.0	.	3838;3845	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	3838;3845;84	ENSP00000364887:K3838N;ENSP00000381167:K3845N	ENSP00000364887:K3838N	K	+	3	2	DYNC2H1	102687837	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.072000	0.50049	0.963000	0.38082	0.555000	0.69702	AAG		0.323	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
DDI1	414301	broad.mit.edu	37	11	103908679	103908679	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:103908679G>A	ENST00000302259.3	+	1	1372	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	377							aspartic-type endopeptidase activity (GO:0004190)	p.D377N(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAGTGGGCAAGATGAGTCTTC	0.448																																					p.D377N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1129A	11						.						62.0	63.0	63.0					11																	103908679		2202	4299	6501	103413889	SO:0001583	missense	414301	exon1				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1129G>A	11.37:g.103908679G>A	ENSP00000302805:p.Asp377Asn		103413889	NM_001001711	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905993	0.33628	.	.	ENSG00000170967	ENST00000302259	T	0.23348	1.91	4.86	3.94	0.45596	.	0.180454	0.46442	D	0.000285	T	0.23330	0.0564	L	0.47716	1.5	0.29947	N	0.820538	P	0.34800	0.469	B	0.36378	0.223	T	0.11036	-1.0604	10	0.32370	T	0.25	-1.7126	11.3731	0.49711	0.0:0.1825:0.8175:0.0	.	377	Q8WTU0	DDI1_HUMAN	N	377	ENSP00000302805:D377N	ENSP00000302805:D377N	D	+	1	0	DDI1	103413889	1.000000	0.71417	0.030000	0.17652	0.005000	0.04900	3.719000	0.54926	1.402000	0.46780	0.655000	0.94253	GAT		0.448	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
CASP4	837	broad.mit.edu	37	11	104820490	104820490	+	Silent	SNP	C	C	T	rs538762722	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:104820490C>T	ENST00000444739.2	-	5	1471	c.561G>A	c.(559-561)gcG>gcA	p.A187A	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Silent_p.A131A	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	187					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.A187A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGCCCTCAGCGCTGACTCCA	0.473													.|||	3	0.000599042	0.0	0.0	5008	,	,		20573	0.0		0.0	False		,,,				2504	0.0031				p.A131A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	11						.						113.0	101.0	105.0					11																	104820490		2202	4299	6501	104325700	SO:0001819	synonymous_variant	837	exon5			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.561G>A	11.37:g.104820490C>T			104325700	NM_033306	A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	CCDS8327.1																																																																																				0.473	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	
CASP4	837	broad.mit.edu	37	11	104825474	104825474	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:104825474C>A	ENST00000444739.2	-	2	1172	c.262G>T	c.(262-264)Gct>Tct	p.A88S	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_Splice_Site_p.A32S	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	88	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.A88S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCAGTCTTACCTTTTTTATTG	0.393																																					p.A32S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	11						.						98.0	102.0	101.0					11																	104825474		2201	4299	6500	104330684	SO:0001630	splice_region_variant	837	exon2			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.262+1G>T	11.37:g.104825474C>A			104330684	NM_033306	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291502	0.23564	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.09445	4.74;4.32;2.98	3.6	3.6	0.41247	DEATH-like (1);Caspase Recruitment (1);	0.273585	0.34362	N	0.004023	T	0.09202	0.0227	L	0.31926	0.97	0.54753	D	0.999986	P;B;B	0.42078	0.77;0.025;0.005	B;B;B	0.42087	0.375;0.1;0.047	T	0.21177	-1.0253	9	.	.	.	.	9.1965	0.37231	0.0:0.7765:0.2235:0.0	.	88;88;88	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	S	88;32;41;88	ENSP00000388566:A88S;ENSP00000376857:A32S;ENSP00000401673:A88S	.	A	-	1	0	CASP4	104330684	0.982000	0.34865	0.885000	0.34714	0.049000	0.14656	0.791000	0.26915	1.988000	0.58038	0.655000	0.94253	GCT		0.393	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	Missense_Mutation
AMPD3	272	broad.mit.edu	37	11	10527315	10527315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:10527315C>T	ENST00000396554.3	+	15	2556	c.2215C>T	c.(2215-2217)Cga>Tga	p.R739*	AMPD3_ENST00000444303.2_Nonsense_Mutation_p.R571*	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	730					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R739*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAATGATATTCGAAAGACAAA	0.378																																					p.R730X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2188T	11						.						93.0	90.0	91.0					11																	10527315		2201	4294	6495	10483891	SO:0001587	stop_gained	272	exon15			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.2215C>T	11.37:g.10527315C>T	ENSP00000379802:p.Arg739*		10483891	NM_001025389	A0AUX0|B7Z2S2|B7Z763|B7Z877	Nonsense_Mutation	SNP	ENST00000396554.3	37	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196696	0.98701	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4577	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	571;739;730;737;730	.	ENSP00000379801:R730X	R	+	1	2	AMPD3	10483891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.903000	0.56318	2.824000	0.97209	0.655000	0.94253	CGA		0.378	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480	
RNF141	50862	broad.mit.edu	37	11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:10536581C>T	ENST00000265981.2	-	6	717	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	192					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R192H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383																																					p.R192H	Ovarian(8;377 410 25844 26058 41491)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575A	11						.						152.0	137.0	142.0					11																	10536581		2201	4294	6495	10493157	SO:0001583	missense	50862	exon6			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.575G>A	11.37:g.10536581C>T	ENSP00000265981:p.Arg192His		10493157	NM_016422	A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297516	0.81025	.	.	ENSG00000110315	ENST00000265981	T	0.61158	0.13	5.7	5.7	0.88788	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.89414	3.03	0.80722	D	1	D	0.56035	0.974	P	0.47015	0.534	T	0.79004	-0.1980	10	0.72032	D	0.01	-10.379	19.8478	0.96722	0.0:1.0:0.0:0.0	.	192	Q8WVD5	RN141_HUMAN	H	192	ENSP00000265981:R192H	ENSP00000265981:R192H	R	-	2	0	RNF141	10493157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.067000	0.71193	2.704000	0.92352	0.650000	0.86243	CGC		0.383	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422	
CASP4	837	broad.mit.edu	37	11	104825607	104825607	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:104825607C>A	ENST00000444739.2	-	2	1039	c.129G>T	c.(127-129)aaG>aaT	p.K43N	CASP4_ENST00000531333.1_5'UTR|CASP4_ENST00000393150.3_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	43	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)	p.K43N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CGTAATATTTCTTTTTTTCCT	0.408																																					p.K43N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	11						.						211.0	196.0	202.0					11																	104825607		2202	4299	6501	104330817	SO:0001583	missense	837	exon2			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.129G>T	11.37:g.104825607C>A	ENSP00000388566:p.Lys43Asn		104330817	NM_001225	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872435	0.33069	.	.	ENSG00000196954	ENST00000444739;ENST00000417440	T;T	0.21031	2.03;2.03	3.6	1.3	0.21679	DEATH-like (2);Caspase Recruitment (3);	0.879225	0.09919	N	0.738728	T	0.27866	0.0686	L	0.43923	1.385	0.09310	N	0.999995	D;D;P	0.63880	0.993;0.966;0.473	P;P;P	0.60345	0.873;0.666;0.449	T	0.14254	-1.0479	10	0.45353	T	0.12	.	2.9929	0.05989	0.0:0.2698:0.2338:0.4963	.	43;43;43	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	N	43	ENSP00000388566:K43N;ENSP00000401673:K43N	ENSP00000401673:K43N	K	-	3	2	CASP4	104330817	0.004000	0.15560	0.017000	0.16124	0.001000	0.01503	0.271000	0.18626	0.558000	0.29135	-0.302000	0.09304	AAG		0.408	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	
GRIA4	2893	broad.mit.edu	37	11	105483062	105483062	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105483062C>T	ENST00000530497.1	+	2	148	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	GRIA4_ENST00000527669.1_Missense_Mutation_p.L50F|GRIA4_ENST00000393125.2_Missense_Mutation_p.L50F|GRIA4_ENST00000428631.2_Missense_Mutation_p.L50F|GRIA4_ENST00000393127.2_Missense_Mutation_p.L50F|GRIA4_ENST00000525187.1_Missense_Mutation_p.L50F|GRIA4_ENST00000282499.5_Missense_Mutation_p.L50F			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	50					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.L50F(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGCAATTTTTCTTCATAACAC	0.423																																					p.L50F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C148T	11						.						145.0	125.0	132.0					11																	105483062		2202	4299	6501	104988272	SO:0001583	missense	2893	exon3			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.148C>T	11.37:g.105483062C>T	ENSP00000435775:p.Leu50Phe		104988272	NM_001077244	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507128	0.85282	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.203425	0.33792	N	0.004551	D	0.88119	0.6351	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;0.997	D;D;D;D;D	0.97110	0.96;0.999;1.0;0.988;0.986	D	0.87487	0.2424	10	0.49607	T	0.09	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	50;50;80;50;50	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	F	50	ENSP00000376833:L50F;ENSP00000282499:L50F;ENSP00000376835:L50F;ENSP00000415551:L50F;ENSP00000432443:L50F;ENSP00000435775:L50F;ENSP00000432180:L50F	ENSP00000282499:L50F	L	+	1	0	GRIA4	104988272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.066000	0.71185	2.736000	0.93811	0.655000	0.94253	CTT		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105795128	105795128	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105795128G>A	ENST00000530497.1	+	11	1480	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	GRIA4_ENST00000393127.2_Missense_Mutation_p.A494T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A494T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A494T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	494					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A494T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTTATAGAAAGCAGAGATTGC	0.388																																					p.A494T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1480A	11						.						87.0	89.0	88.0					11																	105795128		2202	4299	6501	105300338	SO:0001583	missense	2893	exon12			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1480G>A	11.37:g.105795128G>A	ENSP00000435775:p.Ala494Thr		105300338	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233082	0.95207	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.76	5.76	0.90799	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	T	0.73353	0.3576	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.987;0.998	T	0.77683	-0.2496	10	0.87932	D	0	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	494;494	P48058;G3V164	GRIA4_HUMAN;.	T	494	ENSP00000282499:A494T;ENSP00000376835:A494T;ENSP00000435775:A494T;ENSP00000432180:A494T	ENSP00000282499:A494T	A	+	1	0	GRIA4	105300338	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	GCA		0.388	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105797481	105797481	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105797481G>A	ENST00000530497.1	+	12	1862	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	GRIA4_ENST00000393127.2_Missense_Mutation_p.R621Q|GRIA4_ENST00000525187.1_Missense_Mutation_p.R621Q|GRIA4_ENST00000282499.5_Missense_Mutation_p.R621Q			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	621					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R621Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTCTCAGGTCGAATTGTTGGA	0.393																																					p.R621Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1862A	11						.						124.0	124.0	124.0					11																	105797481		2202	4298	6500	105302691	SO:0001583	missense	2893	exon13			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1862G>A	11.37:g.105797481G>A	ENSP00000435775:p.Arg621Gln		105302691	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481846	0.96307	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.6	5.6	0.85130	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000010	D	0.91002	0.7170	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92915	0.6350	10	0.87932	D	0	.	19.9855	0.97347	0.0:0.0:1.0:0.0	.	621;621	P48058;G3V164	GRIA4_HUMAN;.	Q	621	ENSP00000282499:R621Q;ENSP00000376835:R621Q;ENSP00000435775:R621Q;ENSP00000432180:R621Q	ENSP00000282499:R621Q	R	+	2	0	GRIA4	105302691	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	CGA		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105804508	105804508	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105804508G>T	ENST00000530497.1	+	13	2107	c.2107G>T	c.(2107-2109)Gta>Tta	p.V703L	GRIA4_ENST00000393127.2_Missense_Mutation_p.V703L|GRIA4_ENST00000525187.1_Missense_Mutation_p.V703L|GRIA4_ENST00000282499.5_Missense_Mutation_p.V703L|AP000673.1_ENST00000583628.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	703					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.V703L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGAGCCATCAGTATTCACTAG	0.413																																					p.V703L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2107T	11						.						64.0	58.0	60.0					11																	105804508		2202	4299	6501	105309718	SO:0001583	missense	2893	exon14			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2107G>T	11.37:g.105804508G>T	ENSP00000435775:p.Val703Leu		105309718	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620340	0.87460	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000017	T	0.66436	0.2789	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.995	T	0.68903	-0.5286	10	0.87932	D	0	.	19.4254	0.94740	0.0:0.0:1.0:0.0	.	703;703	P48058;G3V164	GRIA4_HUMAN;.	L	703;703;703;703;8	ENSP00000282499:V703L;ENSP00000376835:V703L;ENSP00000435775:V703L;ENSP00000432180:V703L	ENSP00000282499:V703L	V	+	1	0	GRIA4	105309718	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.754000	0.98908	2.595000	0.87683	0.591000	0.81541	GTA		0.413	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
GRIA4	2893	broad.mit.edu	37	11	105850445	105850445	+	Silent	SNP	C	C	A	rs149657082		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105850445C>A	ENST00000530497.1	+	16	2688	c.2688C>A	c.(2686-2688)gtC>gtA	p.V896V	GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_3'UTR|GRIA4_ENST00000282499.5_Silent_p.V896V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	896					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.V896V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATTGGCTGTCATTGCATCGG	0.502																																					p.V896V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2688A	11						.						72.0	61.0	64.0					11																	105850445		2201	4299	6500	105355655	SO:0001819	synonymous_variant	2893	exon17			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2688C>A	11.37:g.105850445C>A			105355655	NM_000829	Q86XE8	Silent	SNP	ENST00000530497.1	37	CCDS8333.1																																																																																				0.502	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
KBTBD3	143879	broad.mit.edu	37	11	105923757	105923757	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105923757A>G	ENST00000526793.1	-	3	1818	c.1659T>C	c.(1657-1659)atT>atC	p.I553I	KBTBD3_ENST00000531837.1_Silent_p.I553I|KBTBD3_ENST00000534815.1_Silent_p.I474I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	549								p.I553I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTAATATATAAATTTTATCTT	0.398																																					p.I553I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1659C	11						.						75.0	76.0	76.0					11																	105923757		2201	4298	6499	105428967	SO:0001819	synonymous_variant	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1659T>C	11.37:g.105923757A>G			105428967	NM_152433	Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	37	CCDS8334.1																																																																																				0.398	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
KBTBD3	143879	broad.mit.edu	37	11	105924155	105924155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105924155G>T	ENST00000526793.1	-	3	1420	c.1261C>A	c.(1261-1263)Ctc>Atc	p.L421I	KBTBD3_ENST00000531837.1_Missense_Mutation_p.L421I|KBTBD3_ENST00000534815.1_Missense_Mutation_p.L342I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	417								p.L421I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATCTAAGAGACTTTTAATG	0.388																																					p.L421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1261A	11						.						45.0	44.0	44.0					11																	105924155		2201	4296	6497	105429365	SO:0001583	missense	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1261C>A	11.37:g.105924155G>T	ENSP00000436262:p.Leu421Ile		105429365	NM_152433	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286647	0.40494	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.81330	-1.48;-1.48;-1.48	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.112845	0.64402	D	0.000008	D	0.85978	0.5823	M	0.65975	2.015	0.45390	D	0.998373	P;P	0.43431	0.807;0.767	P;P	0.49752	0.497;0.621	D	0.85532	0.1210	10	0.56958	D	0.05	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	421;417	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	I	342;421;421	ENSP00000431910:L342I;ENSP00000436262:L421I;ENSP00000432163:L421I	ENSP00000436262:L421I	L	-	1	0	KBTBD3	105429365	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.446000	0.52928	2.835000	0.97688	0.591000	0.81541	CTC		0.388	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
KBTBD3	143879	broad.mit.edu	37	11	105924350	105924350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105924350G>A	ENST00000526793.1	-	3	1225	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	KBTBD3_ENST00000531837.1_Nonsense_Mutation_p.R356*|KBTBD3_ENST00000534815.1_Nonsense_Mutation_p.R277*	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	352								p.R356*(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CGAACCGTTCGACAACATTTC	0.423																																					p.R356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1066T	11						.						101.0	93.0	96.0					11																	105924350		2201	4298	6499	105429560	SO:0001587	stop_gained	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1066C>T	11.37:g.105924350G>A	ENSP00000436262:p.Arg356*		105429560	NM_152433	Q6N066|Q86X38|Q96NK5	Nonsense_Mutation	SNP	ENST00000526793.1	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	38	6.732021	0.97796	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	.	.	.	5.97	2.17	0.27698	.	0.083093	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4766	0.67551	0.0:0.0:0.4791:0.5209	.	.	.	.	X	277;356;356	.	ENSP00000436262:R356X	R	-	1	2	KBTBD3	105429560	1.000000	0.71417	0.999000	0.59377	0.283000	0.27025	2.078000	0.41567	0.489000	0.27749	-0.335000	0.08231	CGA		0.423	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
MRVI1	10335	broad.mit.edu	37	11	10647979	10647979	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:10647979G>A	ENST00000436272.1	-	8	899	c.821C>T	c.(820-822)aCc>aTc	p.T274I	MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.T210I|MRVI1_ENST00000552103.1_Missense_Mutation_p.T210I|MRVI1_ENST00000531107.1_Missense_Mutation_p.T293I|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.T301I|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000547195.1_Missense_Mutation_p.T210I|MRVI1_ENST00000421747.1_Missense_Mutation_p.T292I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	274					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)		p.T274I(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTGGGTGTGGTCTCGGGGTA	0.567																																					p.T210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	11						.						91.0	98.0	96.0					11																	10647979		1933	4141	6074	10604555	SO:0001583	missense	10335	exon9			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.821C>T	11.37:g.10647979G>A	ENSP00000412229:p.Thr274Ile		10604555	NM_001100163	B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	G	7.546	0.661772	0.14645	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T	0.14766	3.06;3.08;2.48;2.48;2.88;3.06;2.48	5.56	4.58	0.56647	.	0.366702	0.27664	N	0.018363	T	0.09202	0.0227	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22983	0.047;0.047;0.078	B;B;B	0.24394	0.024;0.024;0.053	T	0.22906	-1.0203	10	0.32370	T	0.25	-3.8868	13.6673	0.62403	0.0:0.0:0.7324:0.2676	.	274;293;292	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	I	292;275;274;210;210;301;293;210	ENSP00000414598:T292I;ENSP00000412229:T274I;ENSP00000448278:T210I;ENSP00000446764:T210I;ENSP00000412130:T301I;ENSP00000432436:T293I;ENSP00000432067:T210I	ENSP00000307885:T275I	T	-	2	0	MRVI1	10604555	1.000000	0.71417	0.998000	0.56505	0.014000	0.08584	2.280000	0.43443	2.630000	0.89119	0.563000	0.77884	ACC		0.567	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579	
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:105950319G>A	ENST00000278618.4	+	2	531	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	103					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.P103P(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393																																					p.P103P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	11						.						110.0	109.0	109.0					11																	105950319		2201	4299	6500	105455529	SO:0001819	synonymous_variant	60496	exon2			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.309G>A	11.37:g.105950319G>A			105455529	NM_015423	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	ENST00000278618.4	37	CCDS31664.1																																																																																				0.393	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	
GUCY1A2	2977	broad.mit.edu	37	11	106681181	106681181	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:106681181C>A	ENST00000526355.2	-	5	1698	c.1230G>T	c.(1228-1230)atG>atT	p.M410I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M431I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M410I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	410					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.M410I(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GAACATGGATCATTTGTCCTT	0.378																																					p.M410I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1230T	11						.						73.0	78.0	77.0					11																	106681181		2201	4298	6499	106186391	SO:0001583	missense	2977	exon5			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1230G>T	11.37:g.106681181C>A	ENSP00000431245:p.Met410Ile		106186391	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861269	0.51482	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.92446	-3.04;-3.04;-3.04	5.49	5.49	0.81192	Haem NO binding associated (1);	0.000000	0.52532	U	0.000066	D	0.96116	0.8734	M	0.87827	2.91	0.80722	D	1	D;P;P	0.65815	0.995;0.911;0.476	P;P;B	0.60012	0.867;0.756;0.159	D	0.96458	0.9339	10	0.66056	D	0.02	.	18.3596	0.90371	0.0:1.0:0.0:0.0	.	431;410;410	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	I	410;410;431	ENSP00000431245:M410I;ENSP00000282249:M410I;ENSP00000344874:M431I	ENSP00000282249:M410I	M	-	3	0	GUCY1A2	106186391	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.487000	0.81328	2.563000	0.86464	0.650000	0.86243	ATG		0.378	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106810509	106810509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:106810509C>A	ENST00000526355.2	-	4	1351	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E295*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E295*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	295					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.E295*(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTTTCACATTCTTTGATAAGG	0.443																																					p.E295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G883T	11						.						92.0	91.0	91.0					11																	106810509		2201	4298	6499	106315719	SO:0001587	stop_gained	2977	exon4			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.883G>T	11.37:g.106810509C>A	ENSP00000431245:p.Glu295*		106315719	NM_000855	A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	40	8.476145	0.98827	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.45	4.54	0.55810	.	0.144593	0.30383	U	0.009750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.0332	0.71723	0.0:0.8476:0.1524:0.0	.	.	.	.	X	295	.	ENSP00000282249:E295X	E	-	1	0	GUCY1A2	106315719	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	3.102000	0.50291	1.298000	0.44778	0.591000	0.81541	GAA		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GUCY1A2	2977	broad.mit.edu	37	11	106810884	106810884	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:106810884G>T	ENST00000526355.2	-	4	976	c.508C>A	c.(508-510)Caa>Aaa	p.Q170K	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q170K|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q170K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	170					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.Q170K(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AATCTTTTTTGAATTTCCTCA	0.328																																					p.Q170K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508A	11						.						35.0	41.0	39.0					11																	106810884		2137	4284	6421	106316094	SO:0001583	missense	2977	exon4			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.508C>A	11.37:g.106810884G>T	ENSP00000431245:p.Gln170Lys		106316094	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	7.304	0.613620	0.14066	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.43294	0.95;0.95;0.95	5.17	5.17	0.71159	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.42053	U	0.000768	T	0.28665	0.0710	N	0.12746	0.255	0.53005	D	0.999967	P;B;B	0.40144	0.704;0.019;0.201	B;B;B	0.39217	0.294;0.028;0.087	T	0.07271	-1.0781	10	0.25106	T	0.35	.	17.6474	0.88152	0.0:0.0:1.0:0.0	.	170;170;170	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	K	170	ENSP00000431245:Q170K;ENSP00000282249:Q170K;ENSP00000344874:Q170K	ENSP00000282249:Q170K	Q	-	1	0	GUCY1A2	106316094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.670000	0.83925	2.400000	0.81607	0.591000	0.81541	CAA		0.328	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
CWF19L2	143884	broad.mit.edu	37	11	107205633	107205633	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:107205633G>A	ENST00000282251.5	-	16	2440	c.2413C>T	c.(2413-2415)Ctc>Ttc	p.L805F		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	805							catalytic activity (GO:0003824)	p.L651F(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTGAAGAGAGATCTATCAAC	0.318																																					p.L805F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2413T	11						.						109.0	119.0	115.0					11																	107205633		2201	4297	6498	106710843	SO:0001583	missense	143884	exon16			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2413C>T	11.37:g.107205633G>A	ENSP00000282251:p.Leu805Phe		106710843	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888038	0.72524	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.28666	1.6	5.24	2.33	0.28932	Histidine triad-like motif (1);Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.49256	1.55	0.80722	D	1	P	0.51240	0.943	P	0.59221	0.854	T	0.05289	-1.0894	10	0.38643	T	0.18	-5.864	8.9033	0.35507	0.2441:0.0:0.7559:0.0	.	805	Q2TBE0	C19L2_HUMAN	F	805;63	ENSP00000282251:L805F	ENSP00000282251:L805F	L	-	1	0	CWF19L2	106710843	1.000000	0.71417	0.845000	0.33349	0.894000	0.52154	4.753000	0.62183	0.208000	0.20626	0.655000	0.94253	CTC		0.318	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CWF19L2	143884	broad.mit.edu	37	11	107263525	107263525	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:107263525C>T	ENST00000282251.5	-	11	1741	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.G572R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	572							catalytic activity (GO:0003824)	p.G418R(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTCTTCTTCCTCCTTGTGAT	0.383																																					p.G572R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1714A	11						.						116.0	111.0	112.0					11																	107263525		2201	4298	6499	106768735	SO:0001583	missense	143884	exon11			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1714G>A	11.37:g.107263525C>T	ENSP00000282251:p.Gly572Arg		106768735	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254096	0.39896	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.19669	2.85;2.13	6.03	4.16	0.48862	.	0.052725	0.85682	D	0.000000	T	0.21103	0.0508	L	0.58428	1.81	0.45946	D	0.998779	B	0.14805	0.011	B	0.17722	0.019	T	0.03077	-1.1075	10	0.31617	T	0.26	-14.9163	10.0893	0.42436	0.0:0.7865:0.1385:0.075	.	572	Q2TBE0	C19L2_HUMAN	R	572	ENSP00000282251:G572R;ENSP00000387533:G572R	ENSP00000282251:G572R	G	-	1	0	CWF19L2	106768735	1.000000	0.71417	0.964000	0.40570	0.864000	0.49448	1.214000	0.32419	0.869000	0.35703	0.557000	0.71058	GGA		0.383	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CWF19L2	143884	broad.mit.edu	37	11	107299946	107299946	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:107299946C>A	ENST00000282251.5	-	8	1039	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y	CWF19L2_ENST00000433523.1_Missense_Mutation_p.D338Y	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	338							catalytic activity (GO:0003824)	p.D184Y(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GGTCTCTTATCTTTTTCATCA	0.333																																					p.D338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1012T	11						.						102.0	103.0	102.0					11																	107299946		2201	4298	6499	106805156	SO:0001583	missense	143884	exon8			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1012G>T	11.37:g.107299946C>A	ENSP00000282251:p.Asp338Tyr		106805156	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859231	0.32884	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23147	1.92;1.92	5.38	4.47	0.54385	.	0.488362	0.23157	N	0.051293	T	0.24005	0.0581	L	0.55103	1.725	0.32434	N	0.547689	B	0.13594	0.008	B	0.15870	0.014	T	0.20773	-1.0265	10	0.21014	T	0.42	-0.1024	11.6612	0.51347	0.0:0.9173:0.0:0.0827	.	338	Q2TBE0	C19L2_HUMAN	Y	338	ENSP00000282251:D338Y;ENSP00000387533:D338Y	ENSP00000282251:D338Y	D	-	1	0	CWF19L2	106805156	0.959000	0.32827	0.702000	0.30337	0.075000	0.17131	1.961000	0.40432	1.393000	0.46605	0.591000	0.81541	GAT		0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
CWF19L2	143884	broad.mit.edu	37	11	107300048	107300048	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:107300048C>A	ENST00000282251.5	-	8	937	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.E304*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	304							catalytic activity (GO:0003824)	p.E150*(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AAGTCTGATTCTCTACTTTCT	0.343																																					p.E304X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G910T	11						.						85.0	81.0	82.0					11																	107300048		2201	4293	6494	106805258	SO:0001587	stop_gained	143884	exon8			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.910G>T	11.37:g.107300048C>A	ENSP00000282251:p.Glu304*		106805258	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564545	0.86439	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	.	.	.	5.38	1.79	0.24919	.	1.224140	0.05213	N	0.507049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-4.1984	7.5964	0.28050	0.0:0.2459:0.0:0.7541	.	.	.	.	X	304	.	ENSP00000282251:E304X	E	-	1	0	CWF19L2	106805258	0.980000	0.34600	0.515000	0.27774	0.916000	0.54674	1.978000	0.40598	0.421000	0.25980	-0.383000	0.06682	GAA		0.343	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ELMOD1	55531	broad.mit.edu	37	11	107502319	107502319	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:107502319C>A	ENST00000265840.7	+	5	471	c.206C>A	c.(205-207)tCt>tAt	p.S69Y	ELMOD1_ENST00000531234.1_Missense_Mutation_p.S63Y|ELMOD1_ENST00000443271.2_Missense_Mutation_p.S69Y	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	69					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.S69Y(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTGCAGACTTCTGTGAGTGTT	0.363																																					p.S69Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206A	11						.						60.0	55.0	56.0					11																	107502319		1848	4071	5919	107007529	SO:0001583	missense	55531	exon5			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.206C>A	11.37:g.107502319C>A	ENSP00000265840:p.Ser69Tyr		107007529	NM_001130037	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166052	0.38217	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.66	5.66	0.87406	.	0.180158	0.49305	D	0.000149	T	0.40956	0.1138	N	0.08118	0	0.50313	D	0.999869	P;P	0.47604	0.836;0.898	B;P	0.45343	0.285;0.477	T	0.33777	-0.9855	9	0.29301	T	0.29	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	69;69	Q8N336;G5E9S5	ELMD1_HUMAN;.	Y	63;69;69	.	ENSP00000265840:S69Y	S	+	2	0	ELMOD1	107007529	1.000000	0.71417	0.980000	0.43619	0.906000	0.53458	5.364000	0.66110	2.669000	0.90835	0.591000	0.81541	TCT		0.363	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
NPAT	4863	broad.mit.edu	37	11	108032275	108032275	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108032275T>G	ENST00000278612.8	-	17	3643	c.3538A>C	c.(3538-3540)Aat>Cat	p.N1180H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1180					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.N1180H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTTCTGGATTTTTCTGTCTT	0.363																																					p.N1180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3538C	11						.						200.0	193.0	195.0					11																	108032275		1818	4078	5896	107537485	SO:0001583	missense	4863	exon17			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3538A>C	11.37:g.108032275T>G	ENSP00000278612:p.Asn1180His		107537485	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.78|17.78	3.472361|3.472361	0.63737|0.63737	.|.	.|.	ENSG00000149308|ENSG00000149308	ENST00000527296|ENST00000278612	T|T	0.55760|0.04317	0.5|3.65	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.315620	.|0.34879	.|N	.|0.003609	T|T	0.13286|0.13286	0.0322|0.0322	L|L	0.60455|0.60455	1.87|1.87	0.37943|0.37943	D|D	0.932406|0.932406	.|P	.|0.50617	.|0.937	.|P	.|0.55999	.|0.789	T|T	0.03364|0.03364	-1.1044|-1.1044	7|10	0.66056|0.38643	D|T	0.02|0.18	-16.1374|-16.1374	12.471|12.471	0.55787|0.55787	0.0:0.0:0.1394:0.8606|0.0:0.0:0.1394:0.8606	.|.	.|1180	.|Q14207	.|NPAT_HUMAN	N|H	178|1180	ENSP00000436510:K178N|ENSP00000278612:N1180H	ENSP00000436510:K178N|ENSP00000278612:N1180H	K|N	-|-	3|1	2|0	NPAT|NPAT	107537485|107537485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	2.532000|2.532000	0.45659|0.45659	2.330000|2.330000	0.79161|0.79161	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.363	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
NPAT	4863	broad.mit.edu	37	11	108043304	108043304	+	Missense_Mutation	SNP	C	C	T	rs200624398		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108043304C>T	ENST00000278612.8	-	13	2512	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	803					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E803K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCCCCTACTTCGGCATATACA	0.368																																					p.E803K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2407A	11						.	C	LYS/GLU	0,3690		0,0,1845	71.0	65.0	67.0		2407	5.8	0.9	11		67	1,8209		0,1,4104	no	missense	NPAT	NM_002519.2	56	0,1,5949	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	803/1428	108043304	1,11899	1845	4105	5950	107548514	SO:0001583	missense	4863	exon13			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2407G>A	11.37:g.108043304C>T	ENSP00000278612:p.Glu803Lys		107548514	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144256	0.57044	0.0	1.22E-4	ENSG00000149308	ENST00000278612	T	0.04360	3.64	5.83	5.83	0.93111	.	0.309039	0.30969	N	0.008512	T	0.03871	0.0109	N	0.08118	0	0.29333	N	0.86655	D;D	0.56287	0.975;0.975	B;B	0.42851	0.4;0.4	T	0.44862	-0.9300	10	0.27082	T	0.32	-8.1251	17.6048	0.88035	0.0:1.0:0.0:0.0	.	803;803	B9EG70;Q14207	.;NPAT_HUMAN	K	803	ENSP00000278612:E803K	ENSP00000278612:E803K	E	-	1	0	NPAT	107548514	0.998000	0.40836	0.923000	0.36655	0.605000	0.37080	3.708000	0.54845	2.747000	0.94245	0.650000	0.86243	GAA		0.368	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
ATM	472	broad.mit.edu	37	11	108139322	108139322	+	Missense_Mutation	SNP	C	C	A	rs3218688	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108139322C>A	ENST00000452508.2	+	19	3013	c.2824C>A	c.(2824-2826)Ctc>Atc	p.L942I	AP001925.1_ENST00000596081.1_5'Flank|ATM_ENST00000278616.4_Missense_Mutation_p.L942I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	942			L -> F (in dbSNP:rs3218688).		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L942I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TACCAAATCCCTCCACCTGCA	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L942I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2824A	11						.						125.0	116.0	119.0					11																	108139322		2201	4298	6499	107644532	SO:0001583	missense	472	exon18	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2824C>A	11.37:g.108139322C>A	ENSP00000388058:p.Leu942Ile		107644532	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066667	0.20067	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.74209	-0.82;-0.82;-0.82	5.86	3.96	0.45880	Armadillo-type fold (1);	0.062472	0.64402	D	0.000004	T	0.71476	0.3344	M	0.72894	2.215	0.25225	N	0.989879	B	0.26672	0.156	B	0.30646	0.118	T	0.65809	-0.6078	10	0.62326	D	0.03	.	7.7634	0.28965	0.1188:0.6863:0.1287:0.0662	.	942	Q13315	ATM_HUMAN	I	942	ENSP00000435747:L942I;ENSP00000278616:L942I;ENSP00000388058:L942I	ENSP00000278616:L942I	L	+	1	0	ATM	107644532	0.785000	0.28726	0.055000	0.19348	0.097000	0.18754	1.342000	0.33919	0.781000	0.33589	-0.181000	0.13052	CTC		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108151768	108151768	+	Missense_Mutation	SNP	G	G	T	rs555219189	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108151768G>T	ENST00000452508.2	+	25	3638	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I	ATM_ENST00000278616.4_Missense_Mutation_p.R1150I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1150					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R1150I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTTATAATAGAAAATCTGTT	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.R1150I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3449T	11						.						90.0	95.0	93.0					11																	108151768		2201	4298	6499	107656978	SO:0001583	missense	472	exon24	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3449G>T	11.37:g.108151768G>T	ENSP00000388058:p.Arg1150Ile		107656978	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381142	0.95945	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72282	-0.64;-0.64;-0.64	6.08	6.08	0.98989	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.83986	0.0335	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1150	Q13315	ATM_HUMAN	I	1150	ENSP00000435747:R1150I;ENSP00000278616:R1150I;ENSP00000388058:R1150I	ENSP00000278616:R1150I	R	+	2	0	ATM	107656978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.790000	0.75115	2.894000	0.99253	0.655000	0.94253	AGA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108153509	108153509	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108153509C>A	ENST00000452508.2	+	26	3838	c.3649C>A	c.(3649-3651)Ctg>Atg	p.L1217M	ATM_ENST00000278616.4_Missense_Mutation_p.L1217M			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1217					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1217M(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTAGATTATCTGGTTTTGGA	0.299			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L1217M		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3649A	11						.						90.0	92.0	91.0					11																	108153509		2199	4292	6491	107658719	SO:0001583	missense	472	exon25	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3649C>A	11.37:g.108153509C>A	ENSP00000388058:p.Leu1217Met		107658719	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393920	0.62066	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.73258	-0.73;-0.73;-0.73	5.38	0.262	0.15597	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.72898	0.3518	L	0.36672	1.1	0.33686	D	0.61268	D	0.89917	1.0	D	0.78314	0.991	T	0.75929	-0.3144	10	0.49607	T	0.09	.	10.1084	0.42548	0.0:0.5564:0.0:0.4436	.	1217	Q13315	ATM_HUMAN	M	1217	ENSP00000435747:L1217M;ENSP00000278616:L1217M;ENSP00000388058:L1217M	ENSP00000278616:L1217M	L	+	1	2	ATM	107658719	0.999000	0.42202	0.906000	0.35671	0.990000	0.78478	1.107000	0.31110	0.014000	0.14944	0.591000	0.81541	CTG		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108159816	108159816	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108159816C>A	ENST00000452508.2	+	29	4411	c.4222C>A	c.(4222-4224)Ctt>Att	p.L1408I	ATM_ENST00000278616.4_Missense_Mutation_p.L1408I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1408					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1408I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTAGAAATTCTTTCCAAAAG	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L1408I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4222A	11						.						43.0	42.0	42.0					11																	108159816		2200	4295	6495	107665026	SO:0001583	missense	472	exon28	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4222C>A	11.37:g.108159816C>A	ENSP00000388058:p.Leu1408Ile		107665026	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.29|18.29	3.592175|3.592175	0.66219|0.66219	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000531525|ENST00000278616;ENST00000452508;ENST00000389511	.|T;T	.|0.74421	.|-0.84;-0.84	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83390|0.83390	0.5244|0.5244	M|M	0.65498|0.65498	2.005|2.005	0.48762|0.48762	D|D	0.999707|0.999707	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.91635	.|0.996;0.999	T|T	0.82606|0.82606	-0.0374|-0.0374	5|10	.|0.40728	.|T	.|0.16	.|.	12.4398|12.4398	0.55619|0.55619	0.0:0.9232:0.0:0.0768|0.0:0.9232:0.0:0.0768	.|.	.|60;1408	.|E7EV38;Q13315	.|.;ATM_HUMAN	L|I	77|1408;1408;60	.|ENSP00000278616:L1408I;ENSP00000388058:L1408I	.|ENSP00000278616:L1408I	F|L	+|+	3|1	2|0	ATM|ATM	107665026|107665026	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	5.403000|5.403000	0.66338|0.66338	2.497000|2.497000	0.84241|0.84241	0.650000|0.650000	0.86243|0.86243	TTC|CTT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108160488	108160488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108160488C>T	ENST00000452508.2	+	30	4585	c.4396C>T	c.(4396-4398)Cga>Tga	p.R1466*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1466*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1466					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R1466*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTTTGTTCTTCGAGACGTTAT	0.308			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.R1466X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4396T	11	GRCh37	CM990210	ATM	M		.						69.0	71.0	70.0					11																	108160488		2201	4298	6499	107665698	SO:0001587	stop_gained	472	exon29	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4396C>T	11.37:g.108160488C>T	ENSP00000388058:p.Arg1466*		107665698	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	46	12.612048	0.99682	.	.	ENSG00000149311	ENST00000278616;ENST00000452508;ENST00000389511	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7116	0.69238	0.1449:0.8551:0.0:0.0	.	.	.	.	X	1466;1466;118	.	ENSP00000278616:R1466X	R	+	1	2	ATM	107665698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.837000	0.48191	2.781000	0.95711	0.650000	0.86243	CGA		0.308	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108163373	108163373	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108163373A>G	ENST00000452508.2	+	31	4653	c.4464A>G	c.(4462-4464)ttA>ttG	p.L1488L	ATM_ENST00000278616.4_Silent_p.L1488L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1488					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1488L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGTGTCATTACGTAGCTTCT	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L1488L		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4464G	11						.						249.0	232.0	238.0					11																	108163373		2201	4298	6499	107668583	SO:0001819	synonymous_variant	472	exon30	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4464A>G	11.37:g.108163373A>G			107668583	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108172385	108172385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108172385C>T	ENST00000452508.2	+	36	5377	c.5188C>T	c.(5188-5190)Cga>Tga	p.R1730*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1730*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1730					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R1730*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTCAAAGTTCGATCAGCAGC	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.R1730X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5188T	11	GRCh37	CM990211	ATM	M		.						125.0	124.0	125.0					11																	108172385		2201	4298	6499	107677595	SO:0001587	stop_gained	472	exon35	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5188C>T	11.37:g.108172385C>T	ENSP00000388058:p.Arg1730*		107677595	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	47	13.596063	0.99752	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	4.9	3.95	0.45737	.	0.056256	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.8088	0.57628	0.358:0.642:0.0:0.0	.	.	.	.	X	1730	.	ENSP00000278616:R1730X	R	+	1	2	ATM	107677595	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.479000	0.45197	1.136000	0.42199	0.460000	0.39030	CGA		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108190772	108190772	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108190772C>A	ENST00000452508.2	+	45	6628	c.6439C>A	c.(6439-6441)Ctc>Atc	p.L2147I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2147I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2147	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2147I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTATGAAAGTCTCAAATATGC	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L2147I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6439A	11						.						80.0	84.0	83.0					11																	108190772		2201	4295	6496	107695982	SO:0001583	missense	472	exon44	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6439C>A	11.37:g.108190772C>A	ENSP00000388058:p.Leu2147Ile		107695982	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444585	0.43429	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.55588	0.51;0.51	5.47	5.47	0.80525	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.181981	0.49305	D	0.000145	T	0.37046	0.0989	L	0.36672	1.1	0.80722	D	1	P	0.42827	0.791	B	0.40066	0.318	T	0.21484	-1.0244	10	0.07644	T	0.81	.	8.65	0.34029	0.1519:0.7722:0.0:0.0758	.	2147	Q13315	ATM_HUMAN	I	2147	ENSP00000278616:L2147I;ENSP00000388058:L2147I	ENSP00000278616:L2147I	L	+	1	0	ATM	107695982	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.244000	0.51399	2.581000	0.87130	0.655000	0.94253	CTC		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108196215	108196215	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108196215C>A	ENST00000452508.2	+	47	6940	c.6751C>A	c.(6751-6753)Ctc>Atc	p.L2251I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2251I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2251	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		CIKDILT -> H (in AT).		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2251I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TAAGGACATTCTCACCAAACA	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L2251I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6751A	11						.						106.0	103.0	104.0					11																	108196215		2201	4298	6499	107701425	SO:0001583	missense	472	exon46	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6751C>A	11.37:g.108196215C>A	ENSP00000388058:p.Leu2251Ile		107701425	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953369	0.53293	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70399	-0.48;-0.48	5.06	4.13	0.48395	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.119376	0.64402	D	0.000017	T	0.79155	0.4398	L	0.58669	1.825	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	T	0.76498	-0.2937	10	0.25751	T	0.34	.	15.094	0.72220	0.1431:0.8569:0.0:0.0	.	2251	Q13315	ATM_HUMAN	I	2251	ENSP00000278616:L2251I;ENSP00000388058:L2251I	ENSP00000278616:L2251I	L	+	1	0	ATM	107701425	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.419000	0.66435	1.231000	0.43661	-0.181000	0.13052	CTC		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
C11orf65	160140	broad.mit.edu	37	11	108253807	108253807	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108253807T>G	ENST00000529391.1	-	8	892	c.883A>C	c.(883-885)Aat>Cat	p.N295H	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000393084.1_Missense_Mutation_p.N295H|C11orf65_ENST00000525729.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	295								p.N295H(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TGATAAACATTTTCATAGTAA	0.318																																					p.N295H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A883C	11						.						172.0	174.0	174.0					11																	108253807		2201	4298	6499	107759017	SO:0001583	missense	160140	exon9			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.883A>C	11.37:g.108253807T>G	ENSP00000436400:p.Asn295His		107759017	NM_152587	B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056759	0.55325	.	.	ENSG00000166323	ENST00000529391;ENST00000393084	.	.	.	4.46	4.46	0.54185	.	0.096879	0.43110	D	0.000619	T	0.52709	0.1751	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	D	0.63192	0.912	T	0.44019	-0.9355	9	0.66056	D	0.02	-37.1275	10.4312	0.44409	0.0:0.0:0.0:1.0	.	295	Q8NCR3	CK065_HUMAN	H	295	.	ENSP00000376799:N295H	N	-	1	0	C11orf65	107759017	0.024000	0.19004	0.121000	0.21740	0.020000	0.10135	1.707000	0.37888	2.238000	0.73509	0.533000	0.62120	AAT		0.318	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587	
EXPH5	23086	broad.mit.edu	37	11	108382635	108382635	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108382635C>A	ENST00000265843.4	-	6	3709	c.3599G>T	c.(3598-3600)aGa>aTa	p.R1200I	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1124I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1193I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1012I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1200					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.R1200I(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAATACACTTCTCCTGGAGGC	0.383																																					p.R1200I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3599T	11						.						96.0	97.0	97.0					11																	108382635		2201	4298	6499	107887845	SO:0001583	missense	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3599G>T	11.37:g.108382635C>A	ENSP00000265843:p.Arg1200Ile		107887845	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627036	0.28978	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03982	4.32;4.25;4.1;4.32;4.17;3.74	5.61	1.65	0.23941	.	0.600185	0.15909	N	0.238696	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43925	-0.9361	10	0.44086	T	0.13	0.0867	4.9634	0.14078	0.2609:0.1626:0.5764:0.0	.	1200	Q8NEV8	EXPH5_HUMAN	I	1200;1124;1012;1193;1124;1012	ENSP00000265843:R1200I;ENSP00000391966:R1124I;ENSP00000411390:R1012I;ENSP00000432546:R1193I;ENSP00000432683:R1124I;ENSP00000446434:R1012I	ENSP00000265843:R1200I	R	-	2	0	EXPH5	107887845	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	-0.147000	0.10234	0.055000	0.16094	-0.165000	0.13383	AGA		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
EXPH5	23086	broad.mit.edu	37	11	108385085	108385085	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108385085C>A	ENST00000265843.4	-	6	1259	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.E307D|EXPH5_ENST00000525344.1_Missense_Mutation_p.E376D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E195D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	383					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.E383D(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCTGGTTCTCCCTGTCTC	0.458																																					p.E383D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1149T	11						.						173.0	175.0	175.0					11																	108385085		2201	4298	6499	107890295	SO:0001583	missense	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1149G>T	11.37:g.108385085C>A	ENSP00000265843:p.Glu383Asp		107890295	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558429	0.27827	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04015	4.32;4.25;4.1;4.32;4.17;3.73	5.66	4.75	0.60458	.	0.231645	0.30620	N	0.009224	T	0.03390	0.0098	N	0.08118	0	0.24566	N	0.993949	B	0.22604	0.072	B	0.18871	0.023	T	0.40701	-0.9549	10	0.59425	D	0.04	-1.4571	13.8774	0.63662	0.0:0.9239:0.0:0.0761	.	383	Q8NEV8	EXPH5_HUMAN	D	383;307;195;376;227;307;195	ENSP00000265843:E383D;ENSP00000391966:E307D;ENSP00000411390:E195D;ENSP00000432546:E376D;ENSP00000432683:E307D;ENSP00000446434:E195D	ENSP00000265843:E383D	E	-	3	2	EXPH5	107890295	0.072000	0.21174	0.969000	0.41365	0.057000	0.15508	1.289000	0.33307	2.667000	0.90743	0.491000	0.48974	GAG		0.458	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
EXPH5	23086	broad.mit.edu	37	11	108398882	108398882	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108398882G>T	ENST00000265843.4	-	4	583	c.473C>A	c.(472-474)cCt>cAt	p.P158H	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.P82H|EXPH5_ENST00000525344.1_Missense_Mutation_p.P151H|EXPH5_ENST00000443411.1_Intron	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	158					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.P158H(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCCCTCACAGGCATAGGAGG	0.413																																					p.P158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473A	11						.						88.0	87.0	87.0					11																	108398882		2201	4298	6499	107904092	SO:0001583	missense	23086	exon4				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.473C>A	11.37:g.108398882G>T	ENSP00000265843:p.Pro158His		107904092	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672420	0.67928	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T	0.03035	4.23;4.15;4.23;4.07	5.1	5.1	0.69264	.	0.396531	0.21909	N	0.067337	T	0.07279	0.0184	N	0.22421	0.69	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.29701	-1.0003	10	0.72032	D	0.01	-3.2193	14.3958	0.67010	0.0:0.0:1.0:0.0	.	158	Q8NEV8	EXPH5_HUMAN	H	158;82;151;2;82	ENSP00000265843:P158H;ENSP00000391966:P82H;ENSP00000432546:P151H;ENSP00000432683:P82H	ENSP00000265843:P158H	P	-	2	0	EXPH5	107904092	0.234000	0.23783	0.060000	0.19600	0.191000	0.23601	4.489000	0.60309	2.536000	0.85505	0.491000	0.48974	CCT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
DDX10	1662	broad.mit.edu	37	11	108544240	108544240	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108544240A>G	ENST00000322536.3	+	2	362	c.233A>G	c.(232-234)aAa>aGa	p.K78R	DDX10_ENST00000526794.1_Missense_Mutation_p.K78R	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	78					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.K78R(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCTTGTCCAAAAAAACATTG	0.338			T	NUP98	AML*																																p.K78R			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A233G	11						.						98.0	98.0	98.0					11																	108544240		2197	4297	6494	108049450	SO:0001583	missense	1662	exon2			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.233A>G	11.37:g.108544240A>G	ENSP00000314348:p.Lys78Arg		108049450	NM_004398	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.636963	0.29157	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.39997	1.05;1.05	5.84	3.22	0.36961	RNA helicase, DEAD-box type, Q motif (1);	0.168762	0.64402	N	0.000006	T	0.28433	0.0703	N	0.25380	0.74	0.58432	D	0.999997	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.06092	-1.0846	10	0.33141	T	0.24	-12.9042	10.9204	0.47161	0.8527:0.0:0.1473:0.0	.	78;78	Q13206;E9PIF2	DDX10_HUMAN;.	R	78	ENSP00000314348:K78R;ENSP00000432032:K78R	ENSP00000314348:K78R	K	+	2	0	DDX10	108049450	1.000000	0.71417	0.482000	0.27366	0.677000	0.39632	4.606000	0.61126	1.043000	0.40175	-0.326000	0.08463	AAA		0.338	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
DDX10	1662	broad.mit.edu	37	11	108559740	108559740	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108559740G>T	ENST00000322536.3	+	7	1055	c.926G>T	c.(925-927)aGa>aTa	p.R309I	DDX10_ENST00000526794.1_Missense_Mutation_p.R309I	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	309	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R309I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCTTTTTGAGAAGCCATCTG	0.388			T	NUP98	AML*																																p.R309I			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926T	11						.						231.0	231.0	231.0					11																	108559740		2201	4298	6499	108064950	SO:0001583	missense	1662	exon7			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.926G>T	11.37:g.108559740G>T	ENSP00000314348:p.Arg309Ile		108064950	NM_004398	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030610	0.75504	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.05025	3.51;3.51	5.61	4.69	0.59074	Helicase, C-terminal (1);	0.127154	0.64402	D	0.000002	T	0.15739	0.0379	M	0.77712	2.385	0.80722	D	1	P;P	0.48998	0.918;0.84	P;P	0.47827	0.558;0.558	T	0.00440	-1.1738	10	0.87932	D	0	-16.1575	14.7812	0.69769	0.07:0.0:0.93:0.0	.	309;309	Q13206;E9PIF2	DDX10_HUMAN;.	I	309;215;309	ENSP00000314348:R309I;ENSP00000432032:R309I	ENSP00000314348:R309I	R	+	2	0	DDX10	108064950	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.073000	0.50057	2.637000	0.89404	0.655000	0.94253	AGA		0.388	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
DDX10	1662	broad.mit.edu	37	11	108593863	108593863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:108593863G>T	ENST00000322536.3	+	13	1768	c.1639G>T	c.(1639-1641)Gaa>Taa	p.E547*	DDX10_ENST00000526794.1_Nonsense_Mutation_p.E547*	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	547					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E547*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CGAAGTGGAAGAATTTAGAGC	0.433			T	NUP98	AML*																																p.E547X			Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1639T	11						.						59.0	59.0	59.0					11																	108593863		2201	4298	6499	108099073	SO:0001587	stop_gained	1662	exon13			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1639G>T	11.37:g.108593863G>T	ENSP00000314348:p.Glu547*		108099073	NM_004398	B2RCQ3|Q5BJD8	Nonsense_Mutation	SNP	ENST00000322536.3	37	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	38	6.777047	0.97829	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	.	.	.	4.9	3.98	0.46160	.	0.284853	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-11.7223	8.5076	0.33197	0.237:0.0:0.763:0.0	.	.	.	.	X	547;453;547	.	ENSP00000314348:E547X	E	+	1	0	DDX10	108099073	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.406000	0.34646	1.181000	0.42912	0.484000	0.47621	GAA		0.433	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398	
ZC3H12C	85463	broad.mit.edu	37	11	110035566	110035566	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110035566G>A	ENST00000278590.3	+	6	1807	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D555N|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D587N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	586							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.D586N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTCACCTGTCGACATCGGATA	0.423																																					p.D586N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1756A	11						.						87.0	80.0	82.0					11																	110035566		1977	4143	6120	109540776	SO:0001583	missense	85463	exon6				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1756G>A	11.37:g.110035566G>A	ENSP00000278590:p.Asp586Asn		109540776	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474618	0.84640	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.41065	1.01;1.01;1.03	6.04	6.04	0.98038	.	0.145935	0.64402	D	0.000011	T	0.66426	0.2788	M	0.69823	2.125	0.46260	D	0.998955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.99	T	0.60939	-0.7163	10	0.39692	T	0.17	-26.2426	20.5792	0.99380	0.0:0.0:1.0:0.0	.	587;586;586	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	586;587;555	ENSP00000278590:D586N;ENSP00000431821:D587N;ENSP00000413094:D555N	ENSP00000278590:D586N	D	+	1	0	ZC3H12C	109540776	1.000000	0.71417	0.305000	0.25099	0.966000	0.64601	7.639000	0.83342	2.873000	0.98535	0.561000	0.74099	GAC		0.423	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ZC3H12C	85463	broad.mit.edu	37	11	110036163	110036163	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110036163G>A	ENST00000278590.3	+	6	2404	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D754N|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D786N	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	785							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.D785N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTATGGGATCGACGCCTATGG	0.552																																					p.D785N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2353A	11						.						78.0	81.0	80.0					11																	110036163		1958	4150	6108	109541373	SO:0001583	missense	85463	exon6				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2353G>A	11.37:g.110036163G>A	ENSP00000278590:p.Asp785Asn		109541373	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608448	0.28623	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.36157	1.27;1.27;1.28	5.77	5.77	0.91146	.	0.265656	0.36374	N	0.002638	T	0.36082	0.0954	L	0.59436	1.845	0.31930	N	0.612349	P;P;P	0.36483	0.555;0.555;0.555	B;B;B	0.23852	0.033;0.049;0.033	T	0.52343	-0.8588	10	0.72032	D	0.01	-11.0983	19.9981	0.97395	0.0:0.0:1.0:0.0	.	786;785;785	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	N	785;786;754	ENSP00000278590:D785N;ENSP00000431821:D786N;ENSP00000413094:D754N	ENSP00000278590:D785N	D	+	1	0	ZC3H12C	109541373	1.000000	0.71417	0.080000	0.20451	0.074000	0.17049	5.780000	0.68956	2.729000	0.93468	0.655000	0.94253	GAC		0.552	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ARHGAP20	57569	broad.mit.edu	37	11	110450744	110450744	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110450744C>A	ENST00000260283.4	-	16	3210	c.2926G>T	c.(2926-2928)Gat>Tat	p.D976Y	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D940Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D940Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D953Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D950Y|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D950Y|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D519Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	976					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D976Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAAGTGCAATCTATTGGAGAG	0.502																																					p.D976Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2926T	11						.						57.0	57.0	57.0					11																	110450744		2201	4298	6499	109955954	SO:0001583	missense	57569	exon16			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2926G>T	11.37:g.110450744C>A	ENSP00000260283:p.Asp976Tyr		109955954	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495044	0.64186	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.27;2.23;2.24;2.23;2.24	5.9	3.97	0.46021	.	0.218578	0.37304	N	0.002141	T	0.38904	0.1058	M	0.65975	2.015	0.32324	N	0.562061	D;D;D	0.71674	0.998;0.996;0.998	D;P;P	0.63877	0.919;0.754;0.875	T	0.56165	-0.8024	10	0.87932	D	0	.	16.5404	0.84383	0.0:0.7533:0.2467:0.0	.	950;976;953	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	Y	976;950;519;953;940;950;940	ENSP00000260283:D976Y;ENSP00000349660:D950Y;ENSP00000437905:D519Y;ENSP00000432076:D953Y;ENSP00000436319:D940Y;ENSP00000436522:D950Y;ENSP00000431399:D940Y	ENSP00000260283:D976Y	D	-	1	0	ARHGAP20	109955954	1.000000	0.71417	0.827000	0.32855	0.960000	0.62799	5.550000	0.67268	0.800000	0.34041	0.650000	0.86243	GAT		0.502	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
ARHGAP20	57569	broad.mit.edu	37	11	110451265	110451265	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110451265G>T	ENST00000260283.4	-	16	2689	c.2405C>A	c.(2404-2406)tCt>tAt	p.S802Y	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S766Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S766Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S779Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S776Y|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S776Y|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S345Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	802					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S802Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGATGCCACAGAAATGGCCAC	0.438																																					p.S802Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2405A	11						.						116.0	114.0	114.0					11																	110451265		2201	4298	6499	109956475	SO:0001583	missense	57569	exon16			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2405C>A	11.37:g.110451265G>T	ENSP00000260283:p.Ser802Tyr		109956475	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220393	0.58560	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.26;2.25;2.26;2.25;2.26	5.46	5.46	0.80206	.	0.100598	0.45126	D	0.000394	T	0.42698	0.1214	M	0.69823	2.125	0.36727	D	0.881523	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.987;0.994	T	0.45352	-0.9267	10	0.49607	T	0.09	.	17.4961	0.87718	0.0:0.0:1.0:0.0	.	776;802;779	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	Y	802;776;345;779;766;776;766	ENSP00000260283:S802Y;ENSP00000349660:S776Y;ENSP00000437905:S345Y;ENSP00000432076:S779Y;ENSP00000436319:S766Y;ENSP00000436522:S776Y;ENSP00000431399:S766Y	ENSP00000260283:S802Y	S	-	2	0	ARHGAP20	109956475	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	4.966000	0.63715	2.567000	0.86603	0.655000	0.94253	TCT		0.438	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
ARHGAP20	57569	broad.mit.edu	37	11	110451545	110451545	+	Missense_Mutation	SNP	C	C	T	rs368565272		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110451545C>T	ENST00000260283.4	-	16	2409	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D673N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D673N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D686N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D683N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D683N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D252N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	709					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D709N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCAGATAGTCGATGCTGGGC	0.502																																					p.D709N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2125A	11						.	C	ASN/ASP	2,4400	4.2+/-10.8	0,2,2199	63.0	64.0	63.0		2125	1.6	0.0	11		63	0,8596		0,0,4298	no	missense	ARHGAP20	NM_020809.2	23	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	709/1192	110451545	2,12996	2201	4298	6499	109956755	SO:0001583	missense	57569	exon16			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2125G>A	11.37:g.110451545C>T	ENSP00000260283:p.Asp709Asn		109956755	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189592	0.38707	4.54E-4	0.0	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.11385	2.81;2.81;2.78;2.81;2.82;2.81;2.82	5.71	1.65	0.23941	.	0.226096	0.37483	N	0.002070	T	0.08223	0.0205	M	0.63428	1.95	0.09310	N	1	P;B;B	0.38167	0.621;0.291;0.414	B;B;B	0.30782	0.12;0.01;0.034	T	0.27123	-1.0083	10	0.33141	T	0.24	.	3.3184	0.07041	0.1512:0.5722:0.1303:0.1464	.	683;709;686	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	709;683;252;686;673;683;673	ENSP00000260283:D709N;ENSP00000349660:D683N;ENSP00000437905:D252N;ENSP00000432076:D686N;ENSP00000436319:D673N;ENSP00000436522:D683N;ENSP00000431399:D673N	ENSP00000260283:D709N	D	-	1	0	ARHGAP20	109956755	0.711000	0.27906	0.000000	0.03702	0.946000	0.59487	1.193000	0.32162	0.047000	0.15862	-0.274000	0.10170	GAC		0.502	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
ARHGAP20	57569	broad.mit.edu	37	11	110462842	110462842	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:110462842G>T	ENST00000260283.4	-	11	1286	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	ARHGAP20_ENST00000527598.1_Silent_p.I298I|ARHGAP20_ENST00000528829.1_Silent_p.I298I|ARHGAP20_ENST00000524756.1_Silent_p.I311I|ARHGAP20_ENST00000357139.3_Silent_p.I308I|ARHGAP20_ENST00000533353.1_Silent_p.I308I|ARHGAP20_ENST00000529591.1_5'Flank	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	334					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I334I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCCAGTTTATGATAGATCTTC	0.403																																					p.I334I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002A	11						.						156.0	151.0	153.0					11																	110462842		2201	4298	6499	109968052	SO:0001819	synonymous_variant	57569	exon11			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1002C>A	11.37:g.110462842G>T			109968052	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	CCDS31673.1																																																																																				0.403	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
BTG4	54766	broad.mit.edu	37	11	111369408	111369408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111369408C>A	ENST00000356018.2	-	2	293	c.94G>T	c.(94-96)Gaa>Taa	p.E32*	BTG4_ENST00000525791.1_Nonsense_Mutation_p.E32*	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	32					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)			p.E32*(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		ATCAGCTTTTCTGCAAAGTCT	0.383																																					p.E32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G94T	11						.						133.0	112.0	119.0					11																	111369408		2201	4297	6498	110874618	SO:0001587	stop_gained	54766	exon2			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.94G>T	11.37:g.111369408C>A	ENSP00000348300:p.Glu32*		110874618	NM_017589	Q8NEH7	Nonsense_Mutation	SNP	ENST00000356018.2	37	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373455	0.95923	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.47	4.54	0.55810	.	0.262067	0.43416	D	0.000574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.2646	0.49104	0.1389:0.7187:0.1425:0.0	.	.	.	.	X	32	.	ENSP00000348300:E32X	E	-	1	0	BTG4	110874618	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.862000	0.39448	1.282000	0.44496	0.591000	0.81541	GAA		0.383	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1		
C11orf88	399949	broad.mit.edu	37	11	111385659	111385659	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111385659C>T	ENST00000375618.4	+	1	150	c.150C>T	c.(148-150)agC>agT	p.S50S	C11orf88_ENST00000332814.6_Silent_p.S50S|C11orf88_ENST00000529167.1_Silent_p.S50S|MIR34B_ENST00000385076.1_RNA|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	50								p.S50S(1)		endometrium(1)|large_intestine(3)|lung(2)	6						ATCCCCCTAGCGAATCTCAGC	0.592											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S50S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C150T	11						.						58.0	64.0	62.0					11																	111385659		2110	4246	6356	110890869	SO:0001819	synonymous_variant	399949	exon1			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.150C>T	11.37:g.111385659C>T		1434	110890869	NM_001100388	E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	CCDS41713.1																																																																																				0.592	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388	
C11orf88	399949	broad.mit.edu	37	11	111386829	111386829	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111386829C>T	ENST00000375618.4	+	3	333	c.333C>T	c.(331-333)ctC>ctT	p.L111L	C11orf88_ENST00000332814.6_Silent_p.L111L|C11orf88_ENST00000529167.1_Silent_p.L111L|MIR34C_ENST00000384831.1_RNA|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	111								p.L111L(1)		endometrium(1)|large_intestine(3)|lung(2)	6						TAAAGTATCTCCAAAAGGTAG	0.303																																					p.L111L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	11						.						70.0	70.0	70.0					11																	111386829		1806	4058	5864	110892039	SO:0001819	synonymous_variant	399949	exon3			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.333C>T	11.37:g.111386829C>T			110892039	NM_001100388	E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	CCDS41713.1																																																																																				0.303	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388	
SIK2	23235	broad.mit.edu	37	11	111491117	111491117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111491117G>T	ENST00000304987.3	+	3	480	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E103*(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CAAAAATGGAGAAATTTTTGG	0.284																																					p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	11						.						72.0	78.0	76.0					11																	111491117		2201	4291	6492	110996327	SO:0001587	stop_gained	23235	exon3			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.307G>T	11.37:g.111491117G>T	ENSP00000305976:p.Glu103*		110996327	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812793	0.97857	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1569	0.89694	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000305976:E103X	E	+	1	0	SIK2	110996327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.567000	0.90737	2.575000	0.86900	0.650000	0.86243	GAA		0.284	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
SIK2	23235	broad.mit.edu	37	11	111571629	111571629	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111571629C>A	ENST00000304987.3	+	5	671	c.498C>A	c.(496-498)ttC>ttA	p.F166L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F166L(2)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGGAAATTTCTTTAAAAGTG	0.398																																					p.F166L												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.C498A	11						.						71.0	73.0	72.0					11																	111571629		2201	4297	6498	111076839	SO:0001583	missense	23235	exon5			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.498C>A	11.37:g.111571629C>A	ENSP00000305976:p.Phe166Leu		111076839	NM_015191	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842676	0.71488	.	.	ENSG00000170145	ENST00000304987	T	0.63580	-0.05	5.32	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089754	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11255	0.115	0.58432	D	0.99999	P	0.51933	0.949	P	0.61132	0.884	T	0.48399	-0.9039	10	0.13108	T	0.6	.	8.6979	0.34307	0.1525:0.7719:0.0:0.0756	.	166	Q9H0K1	SIK2_HUMAN	L	166	ENSP00000305976:F166L	ENSP00000305976:F166L	F	+	3	2	SIK2	111076839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.584000	0.46102	1.469000	0.48083	0.603000	0.83216	TTC		0.398	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
FDXACB1	91893	broad.mit.edu	37	11	111745900	111745900	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111745900T>G	ENST00000260257.4	-	5	1668	c.1621A>C	c.(1621-1623)Agt>Cgt	p.S541R	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S392R	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	541	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.S541R(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATCCAAAAACTAACATCATGC	0.388																																					p.S541R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1621C	11						.						58.0	57.0	57.0					11																	111745900		1868	4102	5970	111251110	SO:0001583	missense	91893	exon5				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1621A>C	11.37:g.111745900T>G	ENSP00000260257:p.Ser541Arg		111251110	NM_138378	A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181776	0.78677	.	.	ENSG00000255561	ENST00000260257;ENST00000542429	T;T	0.80824	-1.42;-1.42	6.17	6.17	0.99709	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93452	0.6803	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	541	Q9BRP7	FDXA1_HUMAN	R	541;392	ENSP00000260257:S541R;ENSP00000441304:S392R	ENSP00000260257:S541R	S	-	1	0	FDXACB1	111251110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.430000	0.73391	2.371000	0.80710	0.533000	0.62120	AGT		0.388	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378	
HSPB2	3316	broad.mit.edu	37	11	111784266	111784266	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111784266G>A	ENST00000304298.3	+	2	784	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CRYAB_ENST00000531198.1_5'Flank|CRYAB_ENST00000533280.1_5'Flank|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533971.1_5'Flank|HSPB2_ENST00000537382.1_Missense_Mutation_p.E66K|HSPB2-C11orf52_ENST00000534100.1_Intron|CRYAB_ENST00000526180.1_5'Flank|CRYAB_ENST00000525823.1_5'Flank|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_5'Flank	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	66					positive regulation of catalytic activity (GO:0043085)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)	p.E66K(1)		large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGGGGCCTCCGAGCTTAGGCT	0.617																																					p.E66K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	11						.						92.0	95.0	94.0					11																	111784266		2201	4297	6498	111289476	SO:0001583	missense	3316	exon2			U75898	CCDS8352.1	11q22-q23	2011-09-02	2002-08-29			ENSG00000170276		"""Heat shock proteins / HSPB"""	5247	protein-coding gene	gene with protein product		602179	"""heat shock 27kD protein 2"""			9344664, 9490724	Standard	NM_001541		Approved	Hs.78846, MKBP	uc001pmg.2	Q16082		ENST00000304298.3:c.196G>A	11.37:g.111784266G>A	ENSP00000302476:p.Glu66Lys		111289476	NM_001541	Q6I9U7	Missense_Mutation	SNP	ENST00000304298.3	37	CCDS8352.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471878	0.63737	.	.	ENSG00000170276	ENST00000304298;ENST00000537382	D;D	0.90324	-2.65;-2.65	4.84	4.84	0.62591	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.220264	0.38548	N	0.001651	D	0.91630	0.7355	M	0.72576	2.205	0.37244	D	0.906252	D	0.59357	0.985	P	0.47206	0.541	D	0.92911	0.6347	10	0.42905	T	0.14	-13.2361	18.4921	0.90852	0.0:0.0:1.0:0.0	.	66	Q16082	HSPB2_HUMAN	K	66	ENSP00000302476:E66K;ENSP00000445585:E66K	ENSP00000302476:E66K	E	+	1	0	HSPB2	111289476	1.000000	0.71417	0.959000	0.39883	0.985000	0.73830	5.482000	0.66833	2.688000	0.91661	0.650000	0.86243	GAG		0.617	HSPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391669.1		
DIXDC1	85458	broad.mit.edu	37	11	111844961	111844961	+	Silent	SNP	C	C	A	rs587683500		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111844961C>A	ENST00000529225.1	+	5	808	c.528C>A	c.(526-528)gtC>gtA	p.V176V	DIXDC1_ENST00000440460.2_Silent_p.V177V|DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Silent_p.V177V	NM_001278542.1	NP_001265471.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	177	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.V177V(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GACGGGATGTCTTTCGATATA	0.507																																					p.V177V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531A	11						.						46.0	44.0	45.0					11																	111844961		2003	4167	6170	111350171	SO:0001819	synonymous_variant	85458	exon4			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000529225.1:c.528C>A	11.37:g.111844961C>A			111350171	NM_001037954	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Silent	SNP	ENST00000529225.1	37																																																																																					0.507	DIXDC1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391831.1	NM_001037954	
GALNT18	374378	broad.mit.edu	37	11	11292769	11292769	+	Silent	SNP	G	G	A	rs372239180		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:11292769G>A	ENST00000227756.4	-	11	2157	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	582	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F582F(1)									GCTGGAAGCCGAACTCCAGGT	0.637																																					p.F582F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1746T	11						.			0,4402		0,0,2201	96.0	88.0	91.0		1746	-3.5	1.0	11		91	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	GALNTL4	NM_198516.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		582/608	11292769	1,12989	2201	4294	6495	11249345	SO:0001819	synonymous_variant	374378	exon11			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1746C>T	11.37:g.11292769G>A			11249345	NM_198516	O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	CCDS7807.1																																																																																				0.637	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
DIXDC1	85458	broad.mit.edu	37	11	111853173	111853173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:111853173G>T	ENST00000440460.2	+	8	1174	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Nonsense_Mutation_p.E82*	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	294	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)	p.E293*(1)		cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		TTTAGAAAAAGAAATGGAGGA	0.413											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K82N												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G246T	11						.						72.0	71.0	71.0					11																	111853173		1845	4082	5927	111358383	SO:0001587	stop_gained	85458	exon3			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.877G>T	11.37:g.111853173G>T	ENSP00000394352:p.Glu293*	1438	111358383	NM_033425	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Nonsense_Mutation	SNP	ENST00000440460.2	37		.	.	.	.	.	.	.	.	.	.	G	40	8.004905	0.98605	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.4699	19.4432	0.94831	0.0:0.0:1.0:0.0	.	.	.	.	X	293;82	.	ENSP00000314068:E82X	E	+	1	0	DIXDC1	111358383	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.781000	0.85668	2.941000	0.99782	0.655000	0.94253	GAA		0.413	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037954	
NCAM1	4684	broad.mit.edu	37	11	113075129	113075129	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113075129C>A	ENST00000316851.7	+	2	219	c.219C>A	c.(217-219)atC>atA	p.I73I	NCAM1_ENST00000401611.2_Silent_p.I82I|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	83	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.I73I(1)|p.I82I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCCTCACCATCTATAACGCCA	0.527																																					p.L84I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C250A	11						.						87.0	88.0	88.0					11																	113075129		2107	4216	6323	112580339	SO:0001819	synonymous_variant	4684	exon3				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.219C>A	11.37:g.113075129C>A			112580339	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	5'UTR	SNP	ENST00000316851.7	37																																																																																					0.527	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615	
NCAM1	4684	broad.mit.edu	37	11	113075226	113075226	+	Splice_Site	SNP	C	C	T	rs539504433		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113075226C>T	ENST00000316851.7	+	2	316	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	NCAM1_ENST00000401611.2_Splice_Site_p.Q115*|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	116	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.Q106*(1)|p.Q115*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAAGATCTTTCGTAAGAGCCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.0	False		,,,				2504	0.001				p.S116L												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C347T	11						.						67.0	71.0	70.0					11																	113075226		2119	4222	6341	112580436	SO:0001630	splice_region_variant	4684	exon3				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.316+1C>T	11.37:g.113075226C>T			112580436	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	5'UTR	SNP	ENST00000316851.7	37		.	.	.	.	.	.	.	.	.	.	C	31	5.102475	0.94245	.	.	ENSG00000149294	ENST00000401611;ENST00000316851	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-32.1427	19.4483	0.94857	0.0:1.0:0.0:0.0	.	.	.	.	X	115;106	.	ENSP00000318472:Q106X	Q	+	1	0	NCAM1	112580436	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.355000	0.79434	2.673000	0.90976	0.561000	0.74099	CAG		0.517	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615	Nonsense_Mutation
NCAM1	4684	broad.mit.edu	37	11	113102410	113102410	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113102410C>T	ENST00000533760.1	+	9	1348	c.749C>T	c.(748-750)tCg>tTg	p.S250L	NCAM1_ENST00000401611.2_Missense_Mutation_p.S377L|NCAM1_ENST00000316851.7_Missense_Mutation_p.S368L|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	378	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S377L(1)|p.S368L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCCGTGTGTCGTCGCTGACC	0.612																																					p.V368V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1104T	11						.						64.0	67.0	66.0					11																	113102410		2169	4271	6440	112607620	SO:0001583	missense	4684	exon9				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.749C>T	11.37:g.113102410C>T	ENSP00000473281:p.Ser250Leu		112607620	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.433755	0.96150	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.68181	-0.31;-0.31	4.81	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	D	0.83008	0.5161	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.85262	0.1051	9	0.72032	D	0.01	-45.9617	18.4173	0.90575	0.0:1.0:0.0:0.0	.	378;368;378;368	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	L	250;377;368	ENSP00000384055:S377L;ENSP00000318472:S368L	ENSP00000318472:S368L	S	+	2	0	NCAM1	112607620	1.000000	0.71417	0.962000	0.40283	0.972000	0.66771	7.581000	0.82535	2.659000	0.90383	0.561000	0.74099	TCG		0.612	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
NCAM1	4684	broad.mit.edu	37	11	113102999	113102999	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113102999C>T	ENST00000533760.1	+	10	1563	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	NCAM1_ENST00000401611.2_Missense_Mutation_p.R449W|NCAM1_ENST00000316851.7_Missense_Mutation_p.R440W|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	450	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.R449W(3)|p.R440W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCATGGTTTCGGGATGGCCA	0.552																																					p.S440L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C1319T	11						.						72.0	73.0	73.0					11																	113102999		2026	4193	6219	112608209	SO:0001583	missense	4684	exon10				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.964C>T	11.37:g.113102999C>T	ENSP00000473281:p.Arg322Trp		112608209	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038920	0.75617	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.74002	-0.8;-0.8	5.73	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071293	0.53938	U	0.000042	D	0.85396	0.5687	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86032	0.1514	9	0.46703	T	0.11	-39.5648	14.0331	0.64629	0.3884:0.6116:0.0:0.0	.	450;440;450;440	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	W	322;449;440	ENSP00000384055:R449W;ENSP00000318472:R440W	ENSP00000318472:R440W	R	+	1	2	NCAM1	112608209	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.277000	0.43417	1.520000	0.48965	0.557000	0.71058	CGG		0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
NCAM1	4684	broad.mit.edu	37	11	113111523	113111523	+	Missense_Mutation	SNP	C	C	T	rs373646074		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113111523C>T	ENST00000401611.2	+	16	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	721	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S618L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCTAGCTCGTCTACCCCT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20992	0.0		0.001	False		,,,				2504	0.0				p.L609L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1827T	11						.	C	,LEU/SER,,,	0,3908		0,0,1954	238.0	230.0	232.0		,1827,,,	4.8	0.9	11		232	2,8300		0,2,4149	no	intron,missense,intron,intron,intron	NCAM1	NM_000615.6,NM_001076682.3,NM_001242607.1,NM_001242608.1,NM_181351.4	,145,,,	0,2,6103	TT,TC,CC		0.0241,0.0,0.0164	,,,,	,609/762,,,	113111523	2,12208	1954	4151	6105	112616733	SO:0001583	missense	0	exon15				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000401611.2:c.1853C>T	11.37:g.113111523C>T	ENSP00000384055:p.Ser618Leu		112616733	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	IGR	SNP	ENST00000401611.2	37		.	.	.	.	.	.	.	.	.	.	C	14.40	2.524228	0.44866	0.0	2.41E-4	ENSG00000149294	ENST00000401611;ENST00000433634	T	0.69685	-0.42	5.71	4.8	0.61643	.	.	.	.	.	T	0.50701	0.1631	.	.	.	0.09310	N	0.999994	B	0.26400	0.148	B	0.13407	0.009	T	0.34700	-0.9818	8	0.27785	T	0.31	.	10.4126	0.44303	0.0:0.9107:0.0:0.0893	.	609	P13591-3	.	L	618;53	ENSP00000384055:S618L	ENSP00000384055:S618L	S	+	2	0	NCAM1	112616733	0.997000	0.39634	0.922000	0.36590	0.820000	0.46376	2.312000	0.43726	1.421000	0.47157	0.655000	0.94253	TCG		0.433	NCAM1-202	KNOWN	basic	protein_coding	protein_coding		NM_000615	
NCAM1	4684	broad.mit.edu	37	11	113140937	113140937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113140937G>A	ENST00000316851.7	+	16	2129	c.2129G>A	c.(2128-2130)aGc>aAc	p.S710N	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	720					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S719N(1)|p.S710N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCAGGCCTGAGCACCGGGGCC	0.587																																					p.E710E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2130A	11						.						114.0	134.0	127.0					11																	113140937		2119	4256	6375	112646147	SO:0001583	missense	4684	exon16				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2129G>A	11.37:g.113140937G>A	ENSP00000318472:p.Ser710Asn		112646147	NM_000615	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37		.	.	.	.	.	.	.	.	.	.	G	16.86	3.238193	0.58886	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.65549	-0.16	5.53	5.53	0.82687	.	0.065479	0.64402	U	0.000012	T	0.52289	0.1725	.	.	.	0.45284	D	0.99828	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.001;0.004;0.003	T	0.44590	-0.9318	9	0.19147	T	0.46	-16.9625	19.4657	0.94939	0.0:0.0:1.0:0.0	.	592;710;720	E9PLH7;P13591-1;P13591	.;.;NCAM1_HUMAN	N	592;710;175	ENSP00000318472:S710N	ENSP00000318472:S710N	S	+	2	0	NCAM1	112646147	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.611000	0.74183	2.579000	0.87056	0.563000	0.77884	AGC		0.587	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615	
DRD2	1813	broad.mit.edu	37	11	113281523	113281523	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113281523C>T	ENST00000362072.3	-	8	1602	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	DRD2_ENST00000346454.3_Missense_Mutation_p.A391T|DRD2_ENST00000542968.1_Missense_Mutation_p.A420T|DRD2_ENST00000538967.1_Missense_Mutation_p.A422T|DRD2_ENST00000544518.1_Missense_Mutation_p.A419T|DRD2_ENST00000355319.2_Missense_Mutation_p.A422T|RP11-159N11.3_ENST00000546284.1_RNA	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	420					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.A420T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGTTCACGGCGCTGTTGACA	0.567																																					p.A420T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1258A	11						.						269.0	197.0	221.0					11																	113281523		2201	4296	6497	112786733	SO:0001583	missense	1813	exon8			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1258G>A	11.37:g.113281523C>T	ENSP00000354859:p.Ala420Thr		112786733	NM_000795	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511316	0.96386	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.97110	1.0;0.977;0.977	T	0.67803	-0.5576	10	0.66056	D	0.02	.	19.6513	0.95812	0.0:1.0:0.0:0.0	.	419;391;420	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	T	422;391;420;419;420;422	ENSP00000347474:A422T;ENSP00000278597:A391T;ENSP00000354859:A420T;ENSP00000441068:A419T;ENSP00000442172:A420T;ENSP00000438215:A422T	ENSP00000278597:A391T	A	-	1	0	DRD2	112786733	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.803000	0.85983	2.651000	0.90000	0.655000	0.94253	GCC		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
DRD2	1813	broad.mit.edu	37	11	113283595	113283595	+	Missense_Mutation	SNP	C	C	T	rs200184730		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113283595C>T	ENST00000362072.3	-	7	1165	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	DRD2_ENST00000346454.3_Missense_Mutation_p.R245Q|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.R274Q|DRD2_ENST00000538967.1_Missense_Mutation_p.R276Q|DRD2_ENST00000544518.1_Missense_Mutation_p.R273Q|DRD2_ENST00000355319.2_Missense_Mutation_p.R276Q|RP11-159N11.3_ENST00000546284.1_RNA	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	274	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.R274Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGGCTCGCCGGGCAGCCTC	0.662																																					p.R274Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821A	11						.	C	GLN/ARG,GLN/ARG	1,4391		0,1,2195	18.0	18.0	18.0		821,734	5.7	1.0	11		18	1,8577		0,1,4288	no	missense,missense	DRD2	NM_000795.3,NM_016574.3	43,43	0,2,6483	TT,TC,CC		0.0117,0.0228,0.0154	benign,benign	274/444,245/415	113283595	2,12968	2196	4289	6485	112788805	SO:0001583	missense	1813	exon7			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.821G>A	11.37:g.113283595C>T	ENSP00000354859:p.Arg274Gln		112788805	NM_000795	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723344	0.30503	2.28E-4	1.17E-4	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72394	-0.61;-0.65;-0.58;-0.62;-0.58;-0.61	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.322809	0.33217	N	0.005149	T	0.38453	0.1041	N	0.01219	-0.95	0.30454	N	0.774972	B;B;B	0.17465	0.022;0.022;0.007	B;B;B	0.16289	0.007;0.003;0.015	T	0.37150	-0.9718	10	0.13470	T	0.59	.	9.6654	0.39981	0.0:0.8084:0.0:0.1916	.	273;245;274	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	Q	276;245;274;273;274;276	ENSP00000347474:R276Q;ENSP00000278597:R245Q;ENSP00000354859:R274Q;ENSP00000441068:R273Q;ENSP00000442172:R274Q;ENSP00000438215:R276Q	ENSP00000278597:R245Q	R	-	2	0	DRD2	112788805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.588000	0.46137	2.722000	0.93159	0.655000	0.94253	CGG		0.662	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
ZW10	9183	broad.mit.edu	37	11	113608326	113608326	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113608326A>C	ENST00000200135.3	-	14	2128	c.1984T>G	c.(1984-1986)Tct>Gct	p.S662A		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	662					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.S662A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ATGACCTCAGAAATTGCTGTA	0.438																																					p.S662A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1984G	11						.						156.0	145.0	148.0					11																	113608326		2201	4296	6497	113113536	SO:0001583	missense	9183	exon14			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1984T>G	11.37:g.113608326A>C	ENSP00000200135:p.Ser662Ala		113113536	NM_004724	A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	A	7.497	0.651800	0.14516	.	.	ENSG00000086827	ENST00000200135	T	0.46063	0.88	5.27	0.982	0.19762	.	0.474577	0.25723	N	0.028740	T	0.17789	0.0427	N	0.08118	0	0.24908	N	0.992068	B	0.06786	0.001	B	0.04013	0.001	T	0.26985	-1.0087	10	0.07644	T	0.81	-6.6622	9.9714	0.41757	0.377:0.5272:0.0:0.0958	.	662	O43264	ZW10_HUMAN	A	662	ENSP00000200135:S662A	ENSP00000200135:S662A	S	-	1	0	ZW10	113113536	0.941000	0.31946	0.985000	0.45067	0.996000	0.88848	0.323000	0.19593	0.350000	0.24002	0.533000	0.62120	TCT		0.438	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724	
CLDN25	644672	broad.mit.edu	37	11	113650533	113650533	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113650533C>A	ENST00000453129.2	+	1	65	c.16C>A	c.(16-18)Cgt>Agt	p.R6S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.R6S(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTGGAGTTTCCGTGCAAAAGT	0.547																																					p.R6S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16A	11						.						79.0	84.0	83.0					11																	113650533		1998	4174	6172	113155743	SO:0001583	missense	644672	exon1				CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.16C>A	11.37:g.113650533C>A	ENSP00000396304:p.Arg6Ser		113155743	NM_001101389		Missense_Mutation	SNP	ENST00000453129.2	37	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403365	0.25291	.	.	ENSG00000228607	ENST00000453129	T	0.62498	0.02	5.04	2.99	0.34606	.	.	.	.	.	T	0.37376	0.1001	N	0.03194	-0.395	0.09310	N	1	P	0.46621	0.881	B	0.44108	0.441	T	0.08452	-1.0721	9	0.16896	T	0.51	.	8.3573	0.32338	0.2372:0.676:0.0:0.0868	.	6	C9JDP6	CLD25_HUMAN	S	6	ENSP00000396304:R6S	ENSP00000396304:R6S	R	+	1	0	CLDN25	113155743	0.000000	0.05858	0.085000	0.20634	0.059000	0.15707	-0.142000	0.10311	1.322000	0.45245	0.655000	0.94253	CGT		0.547	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
USP28	57646	broad.mit.edu	37	11	113670059	113670059	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113670059G>T	ENST00000003302.4	-	25	3205	c.3137C>A	c.(3136-3138)cCt>cAt	p.P1046H	USP28_ENST00000260188.5_Missense_Mutation_p.P1014H|USP28_ENST00000544967.1_Missense_Mutation_p.P722H|USP28_ENST00000545540.1_Missense_Mutation_p.P889H	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1046					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P1046H(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTGTTGGAGGCTCTTTCAA	0.458																																					p.P1046H	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											USP28,kidney,NS,Substitution - Missense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3137A	11						.						122.0	124.0	123.0					11																	113670059		2201	4296	6497	113175269	SO:0001583	missense	57646	exon25			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3137C>A	11.37:g.113670059G>T	ENSP00000003302:p.Pro1046His		113175269	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916822	0.92249	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.60171	0.69;0.75;0.21;0.78	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.993;0.999	T	0.77501	-0.2564	10	0.87932	D	0	-21.4559	19.8677	0.96824	0.0:0.0:1.0:0.0	.	889;1046;722	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	H	1046;1014;722;889	ENSP00000003302:P1046H;ENSP00000260188:P1014H;ENSP00000442431:P722H;ENSP00000444991:P889H	ENSP00000003302:P1046H	P	-	2	0	USP28	113175269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.361000	0.97122	2.709000	0.92574	0.655000	0.94253	CCT		0.458	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
GALNT18	374378	broad.mit.edu	37	11	11398896	11398896	+	Missense_Mutation	SNP	C	C	A	rs373136641		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:11398896C>A	ENST00000227756.4	-	5	1221	c.810G>T	c.(808-810)gaG>gaT	p.E270D		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	270					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E270D(1)									GCTTCCGGTTCTCCTTGATGC	0.517																																					p.E270D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G810T	11						.						70.0	63.0	65.0					11																	11398896		2201	4294	6495	11355472	SO:0001583	missense	374378	exon5			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.810G>T	11.37:g.11398896C>A	ENSP00000227756:p.Glu270Asp		11355472	NM_198516	O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084842	0.76642	.	.	ENSG00000110328	ENST00000227756	T	0.59502	0.26	5.52	2.15	0.27550	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.75777	2.31	0.53005	D	0.999961	D	0.63046	0.992	D	0.77004	0.989	T	0.69435	-0.5146	10	0.72032	D	0.01	.	7.056	0.25099	0.0:0.5492:0.0:0.4508	.	270	Q6P9A2	GLTL4_HUMAN	D	270	ENSP00000227756:E270D	ENSP00000227756:E270D	E	-	3	2	GALNTL4	11355472	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.736000	0.38187	0.679000	0.31345	0.655000	0.94253	GAG		0.517	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
HTR3B	9177	broad.mit.edu	37	11	113802485	113802485	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:113802485G>T	ENST00000260191.2	+	4	521	c.264G>T	c.(262-264)tgG>tgT	p.W88C	HTR3B_ENST00000537778.1_Missense_Mutation_p.W77C	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	88					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.W88C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	AACAGGTCTGGAATGATGAAT	0.383																																					p.W88C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	11						.						103.0	99.0	100.0					11																	113802485		2201	4296	6497	113307695	SO:0001583	missense	9177	exon4			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.264G>T	11.37:g.113802485G>T	ENSP00000260191:p.Trp88Cys		113307695	NM_006028	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	CCDS8364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.22|19.22	3.785241|3.785241	0.70337|0.70337	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000543092|ENST00000260191;ENST00000537778	.|D;D	.|0.98684	.|-5.07;-5.07	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99465|0.99465	0.9810|0.9810	H|H	0.96861|0.96861	3.895|3.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.98333|0.98333	1.0534|1.0534	5|10	.|0.87932	.|D	.|0	-8.1494|-8.1494	17.0425|17.0425	0.86493|0.86493	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;88	.|O95264-2;O95264	.|.;5HT3B_HUMAN	V|C	17|88;77	.|ENSP00000260191:W88C;ENSP00000443118:W77C	.|ENSP00000260191:W88C	G|W	+|+	2|3	0|0	HTR3B|HTR3B	113307695|113307695	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.150000|9.150000	0.94667|0.94667	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.383	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028	
ZBTB16	7704	broad.mit.edu	37	11	114057719	114057719	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114057719C>T	ENST00000335953.4	+	4	1792	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S471L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	471					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S471L(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCACAGTTTTCGAAGGAGGAT	0.527																																					p.S471L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1412T	11						.						196.0	162.0	174.0					11																	114057719		2201	4296	6497	113562929	SO:0001583	missense	7704	exon4			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1412C>T	11.37:g.114057719C>T	ENSP00000338157:p.Ser471Leu		113562929	NM_006006	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153583	0.78114	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.35789	1.29;1.29	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.393893	0.23532	N	0.047163	T	0.46795	0.1411	L	0.54863	1.705	0.41574	D	0.988708	P;D	0.58268	0.95;0.982	B;P	0.49361	0.398;0.608	T	0.49072	-0.8977	10	0.62326	D	0.03	-4.2661	19.1808	0.93622	0.0:1.0:0.0:0.0	.	471;476	Q05516;Q59H43	ZBT16_HUMAN;.	L	471;471;348	ENSP00000338157:S471L;ENSP00000376721:S471L	ENSP00000309507:S348L	S	+	2	0	ZBTB16	113562929	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	4.872000	0.63050	2.518000	0.84900	0.655000	0.94253	TCG		0.527	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
ZBTB16	7704	broad.mit.edu	37	11	114112956	114112956	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114112956G>A	ENST00000335953.4	+	5	1901	c.1521G>A	c.(1519-1521)caG>caA	p.Q507Q	ZBTB16_ENST00000392996.2_Silent_p.Q507Q|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	507					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q507Q(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CACTGCAGCAGCACATGGAGG	0.627																																					p.Q507Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1521A	11						.						79.0	58.0	65.0					11																	114112956		2201	4296	6497	113618166	SO:0001819	synonymous_variant	7704	exon5			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1521G>A	11.37:g.114112956G>A			113618166	NM_006006	Q8TAL4	Silent	SNP	ENST00000335953.4	37	CCDS8367.1																																																																																				0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
NNMT	4837	broad.mit.edu	37	11	114167342	114167342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114167342G>T	ENST00000535401.1	+	3	328	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	NNMT_ENST00000542647.1_5'Flank|NNMT_ENST00000545255.1_5'Flank|NNMT_ENST00000299964.3_Nonsense_Mutation_p.E22*|NNMT_ENST00000541754.1_5'Flank|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	22					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.E22*(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GGATTACCTAGAAAAATATTA	0.428																																					p.E22X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G64T	11						.						78.0	74.0	75.0					11																	114167342		2201	4296	6497	113672552	SO:0001587	stop_gained	4837	exon1			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.64G>T	11.37:g.114167342G>T	ENSP00000441434:p.Glu22*		113672552	NM_006169		Nonsense_Mutation	SNP	ENST00000535401.1	37	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	43	10.316718	0.99381	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	.	.	.	5.36	4.41	0.53225	.	0.317482	0.29438	N	0.012145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-1.8274	12.6455	0.56731	0.0:0.3045:0.6955:0.0	.	.	.	.	X	22	.	ENSP00000299964:E22X	E	+	1	0	NNMT	113672552	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	1.343000	0.33930	2.526000	0.85167	0.591000	0.81541	GAA		0.428	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169	
NNMT	4837	broad.mit.edu	37	11	114183101	114183101	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114183101G>A	ENST00000535401.1	+	5	961	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	NNMT_ENST00000542647.1_Missense_Mutation_p.E38K|NNMT_ENST00000545255.1_Missense_Mutation_p.E38K|NNMT_ENST00000299964.3_Missense_Mutation_p.E233K|NNMT_ENST00000541754.1_Missense_Mutation_p.E38K|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	233					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)	p.E233K(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTACACAATCGAATGGTTTGA	0.542																																					p.E233K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	11						.						80.0	79.0	80.0					11																	114183101		2201	4296	6497	113688311	SO:0001583	missense	4837	exon3			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.697G>A	11.37:g.114183101G>A	ENSP00000441434:p.Glu233Lys		113688311	NM_006169		Missense_Mutation	SNP	ENST00000535401.1	37	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	4.164	0.029023	0.08054	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	4.93	-2.62	0.06152	.	0.346100	0.26286	N	0.025255	T	0.04724	0.0128	N	0.25647	0.755	0.09310	N	0.999999	B	0.20988	0.05	B	0.17722	0.019	T	0.44922	-0.9296	10	0.06099	T	0.92	-13.079	7.0651	0.25147	0.242:0.4781:0.2799:0.0	.	233	P40261	NNMT_HUMAN	K	233;233;38;38;38	ENSP00000441434:E233K;ENSP00000299964:E233K;ENSP00000445680:E38K;ENSP00000445994:E38K;ENSP00000445248:E38K	ENSP00000299964:E233K	E	+	1	0	NNMT	113688311	0.019000	0.18553	0.000000	0.03702	0.018000	0.09664	0.138000	0.16016	-0.098000	0.12285	0.563000	0.77884	GAA		0.542	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169	
NXPE4	54827	broad.mit.edu	37	11	114441904	114441904	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114441904C>A	ENST00000375478.3	-	6	1571	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	NXPE4_ENST00000424261.2_Missense_Mutation_p.R180I	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	464						extracellular vesicular exosome (GO:0070062)		p.R464I(1)									GTCTGGGCTTCTCAGAAGAAG	0.408																																					p.R180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539T	11						.						143.0	129.0	133.0					11																	114441904		1888	4119	6007	113947114	SO:0001583	missense	54827	exon6			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1391G>T	11.37:g.114441904C>A	ENSP00000364627:p.Arg464Ile		113947114	NM_017678	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194800	0.78902	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.25579	1.79;1.79	5.39	3.52	0.40303	.	0.000000	0.64402	D	0.000008	T	0.58637	0.2136	M	0.93763	3.455	0.50632	D	0.999883	D	0.89917	1.0	D	0.85130	0.997	T	0.66806	-0.5830	10	0.87932	D	0	.	11.1514	0.48462	0.0:0.8481:0.0:0.1519	.	464	Q6UWF7	FA55D_HUMAN	I	180;464	ENSP00000401503:R180I;ENSP00000364627:R464I	ENSP00000364627:R464I	R	-	2	0	FAM55D	113947114	0.998000	0.40836	0.992000	0.48379	0.995000	0.86356	3.146000	0.50631	0.765000	0.33221	0.655000	0.94253	AGA		0.408	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
NXPE4	54827	broad.mit.edu	37	11	114441972	114441972	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114441972G>T	ENST00000375478.3	-	6	1503	c.1323C>A	c.(1321-1323)ccC>ccA	p.P441P	NXPE4_ENST00000424261.2_Silent_p.P157P	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	441						extracellular vesicular exosome (GO:0070062)		p.P441P(1)									CAATGGGAAAGGGTCTGAAAT	0.448																																					p.P157P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	11						.						144.0	134.0	138.0					11																	114441972		1865	4087	5952	113947182	SO:0001819	synonymous_variant	54827	exon6			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1323C>A	11.37:g.114441972G>T			113947182	NM_017678	Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	CCDS41718.1																																																																																				0.448	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
NXPE4	54827	broad.mit.edu	37	11	114442144	114442144	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:114442144G>T	ENST00000375478.3	-	6	1331	c.1151C>A	c.(1150-1152)gCt>gAt	p.A384D	NXPE4_ENST00000424261.2_Missense_Mutation_p.A100D	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	384						extracellular vesicular exosome (GO:0070062)		p.A384D(1)									CAAATCCACAGCAAGCTGGTG	0.398																																					p.A100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299A	11						.						210.0	187.0	194.0					11																	114442144		1912	4138	6050	113947354	SO:0001583	missense	54827	exon6			AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1151C>A	11.37:g.114442144G>T	ENSP00000364627:p.Ala384Asp		113947354	NM_017678	Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618233	0.66787	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.19105	2.17;2.23	5.44	2.05	0.26809	.	0.317840	0.25912	N	0.027496	T	0.46190	0.1380	M	0.90870	3.155	0.33784	D	0.624576	D	0.64830	0.994	D	0.67725	0.953	T	0.58707	-0.7589	10	0.35671	T	0.21	.	7.4306	0.27126	0.1957:0.1388:0.6655:0.0	.	384	Q6UWF7	FA55D_HUMAN	D	100;384	ENSP00000401503:A100D;ENSP00000364627:A384D	ENSP00000364627:A384D	A	-	2	0	FAM55D	113947354	1.000000	0.71417	0.700000	0.30305	0.994000	0.84299	1.798000	0.38814	0.777000	0.33496	0.609000	0.83330	GCT		0.398	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678	
CADM1	23705	broad.mit.edu	37	11	115049434	115049434	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:115049434G>A	ENST00000452722.3	-	9	1160	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	CADM1_ENST00000536727.1_Silent_p.V381V|CADM1_ENST00000537058.1_Silent_p.V391V|CADM1_ENST00000331581.6_Silent_p.V409V|CADM1_ENST00000542447.2_Silent_p.V352V|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.V380V(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGCCACGACGCCACCGA	0.517																																					p.V380V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140T	11						.						131.0	114.0	119.0					11																	115049434		2201	4296	6497	114554644	SO:0001819	synonymous_variant	23705	exon9			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1140C>T	11.37:g.115049434G>A			114554644	NM_014333		Silent	SNP	ENST00000452722.3	37	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224538	0.09916	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.0	3.08	0.35506	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53422	-0.8441	4	.	.	.	.	8.3511	0.32303	0.3017:0.0:0.6983:0.0	.	.	.	.	C	351	.	.	R	-	1	0	CADM1	114554644	0.948000	0.32251	1.000000	0.80357	0.996000	0.88848	0.079000	0.14782	1.349000	0.45751	0.655000	0.94253	CGT		0.517	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
ZPR1	8882	broad.mit.edu	37	11	116656573	116656573	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:116656573C>A	ENST00000227322.3	-	5	580	c.521G>T	c.(520-522)aGa>aTa	p.R174I		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		174					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)	p.R174I(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTCATCAATTCTTTCAGCTGT	0.483																																					p.R174I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G521T	11						.						171.0	143.0	153.0					11																	116656573		2201	4296	6497	116161783	SO:0001583	missense	8882	exon5																														ENST00000227322.3:c.521G>T	11.37:g.116656573C>A	ENSP00000227322:p.Arg174Ile		116161783	NM_003904	Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.3|26.3|26.3	4.725364|4.725364|4.725364	0.89298|0.89298|0.89298	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000444935|ENST00000429220|ENST00000227322	.|.|T	.|.|0.47177	.|.|0.85	5.61|5.61|5.61	4.48|4.48|4.48	0.54585|0.54585|0.54585	.|.|Zinc finger, ZPR1-type (3);	.|.|0.079874	.|.|0.85682	.|.|D	.|.|0.000000	.|T|T	.|0.39937|0.39937	.|0.1097|0.1097	L|L|L	0.52011|0.52011|0.52011	1.625|1.625|1.625	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|P;P	.|.|0.39883	.|.|0.564;0.693	.|.|B;B	.|.|0.41374	.|.|0.242;0.355	.|T|T	.|0.42799|0.42799	.|-0.9430|-0.9430	.|5|10	.|.|0.72032	.|.|D	.|.|0.01	-6.4738|-6.4738|-6.4738	4.1595|4.1595|4.1595	0.10277|0.10277|0.10277	0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116|0.0:0.6884:0.0:0.3116	.|.|.	.|.|123;174	.|.|B4DVT8;O75312	.|.|.;ZPR1_HUMAN	X|N|I	174|116|174	.|.|ENSP00000227322:R174I	.|.|ENSP00000227322:R174I	E|K|R	-|-|-	1|3|2	0|2|0	ZNF259|ZNF259|ZNF259	116161783|116161783|116161783	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	5.009000|5.009000|5.009000	0.63998|0.63998|0.63998	2.808000|2.808000|2.808000	0.96608|0.96608|0.96608	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.483	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2		
SIK3	23387	broad.mit.edu	37	11	116728696	116728696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:116728696G>T	ENST00000292055.4	-	20	3202	c.3167C>A	c.(3166-3168)tCa>tAa	p.S1056*	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Nonsense_Mutation_p.S996*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.S1054*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Nonsense_Mutation_p.S895*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.S391*|SIK3_ENST00000375300.1_Nonsense_Mutation_p.S1114*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1056					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1162*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CAATGTACTTGAACTCTTACT	0.547																																					p.S1056X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C3167A	11						.						93.0	93.0	93.0					11																	116728696		2201	4296	6497	116233906	SO:0001587	stop_gained	23387	exon20			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3167C>A	11.37:g.116728696G>T	ENSP00000292055:p.Ser1056*		116233906	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.105833|7.105833	0.98066|0.98066	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|.	.|.	.|.	5.54|5.54	3.6|3.6	0.41247|0.41247	.|.	.|0.505775	.|0.14661	.|U	.|0.305982	T|.	0.16685|.	0.0401|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	3|.	.|0.02654	.|T	.|1	.|.	6.3893|6.3893	0.21577|0.21577	0.1655:0.1489:0.6856:0.0|0.1655:0.1489:0.6856:0.0	.|.	.|.	.|.	.|.	L|X	1155;1018|1114;1056;391;996;895	.|.	.|ENSP00000292055:S1056X	F|S	-|-	3|2	2|0	SIK3|SIK3	116233906|116233906	0.086000|0.086000	0.21541|0.21541	0.001000|0.001000	0.08648|0.08648	0.061000|0.061000	0.15899|0.15899	2.639000|2.639000	0.46570|0.46570	0.617000|0.617000	0.30160|0.30160	0.563000|0.563000	0.77884|0.77884	TTC|TCA		0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
TAGLN	6876	broad.mit.edu	37	11	117073799	117073799	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:117073799G>A	ENST00000532870.1	+	1	1211	c.70G>A	c.(70-72)Gag>Aag	p.E24K	TAGLN_ENST00000392951.4_Missense_Mutation_p.E24K|TAGLN_ENST00000530649.1_Missense_Mutation_p.E24K|PCSK7_ENST00000529458.1_5'Flank			Q01995	TAGL_HUMAN	transgelin	24	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)		p.E24K(1)		central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GAAGTATGACGAGGAGCTGGA	0.597																																					p.E24K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	11						.						69.0	60.0	63.0					11																	117073799		2201	4296	6497	116579009	SO:0001583	missense	6876	exon2			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.70G>A	11.37:g.117073799G>A	ENSP00000432282:p.Glu24Lys		116579009	NM_003186	O15542	Missense_Mutation	SNP	ENST00000532870.1	37	CCDS8381.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680653	0.47886	.	.	ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000529792;ENST00000530649;ENST00000532870	T;T;T;T;T;T	0.44083	1.59;1.59;1.59;0.93;1.59;1.59	4.74	4.74	0.60224	Calponin homology domain (3);	0.270867	0.42294	D	0.000740	T	0.29389	0.0732	N	0.16743	0.435	0.48288	D	0.99962	B	0.06786	0.001	B	0.04013	0.001	T	0.04708	-1.0932	10	0.27082	T	0.32	.	17.2567	0.87059	0.0:0.0:1.0:0.0	.	24	Q01995	TAGL_HUMAN	K	24	ENSP00000376678:E24K;ENSP00000432054:E24K;ENSP00000278968:E24K;ENSP00000431862:E24K;ENSP00000431941:E24K;ENSP00000432282:E24K	ENSP00000278968:E24K	E	+	1	0	TAGLN	116579009	1.000000	0.71417	0.996000	0.52242	0.679000	0.39708	4.379000	0.59575	2.619000	0.88677	0.561000	0.74099	GAG		0.597	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522	
RNF214	257160	broad.mit.edu	37	11	117150911	117150911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:117150911G>T	ENST00000531452.1	+	8	1127	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.E361*|RNF214_ENST00000531287.1_Nonsense_Mutation_p.E206*|RNF214_ENST00000530849.1_Nonsense_Mutation_p.E206*	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	361							zinc ion binding (GO:0008270)	p.E361*(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGCCGGAAAGAGTTACTGGT	0.353																																					p.E361X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1081T	11						.						141.0	130.0	134.0					11																	117150911		1827	4090	5917	116656121	SO:0001587	stop_gained	257160	exon8			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1081G>T	11.37:g.117150911G>T	ENSP00000431643:p.Glu361*		116656121	NM_001077239	B2RUW0|B4DTD1	Nonsense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	36	5.826242	0.96996	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	5.5	5.5	0.81552	.	0.283001	0.39083	N	0.001472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.6764	18.7341	0.91748	0.0:0.0:1.0:0.0	.	.	.	.	X	206;361;206;361	.	ENSP00000300650:E361X	E	+	1	0	RNF214	116656121	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.481000	0.73608	2.732000	0.93576	0.655000	0.94253	GAG		0.353	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
CEP164	22897	broad.mit.edu	37	11	117280659	117280659	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:117280659G>T	ENST00000278935.3	+	30	4221	c.4074G>T	c.(4072-4074)gaG>gaT	p.E1358D	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1358					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E1358D(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCTGTTGGAGAAGTGGCGCA	0.587																																					p.E1358D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4074T	11						.						51.0	53.0	53.0					11																	117280659		2201	4296	6497	116785869	SO:0001583	missense	22897	exon30			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4074G>T	11.37:g.117280659G>T	ENSP00000278935:p.Glu1358Asp		116785869	NM_014956	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570105	0.65765	.	.	ENSG00000110274	ENST00000278935	T	0.36157	1.27	4.4	2.5	0.30297	.	0.000000	0.48767	D	0.000166	T	0.53174	0.1780	M	0.72894	2.215	0.32756	N	0.505796	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.62863	-0.6764	10	0.62326	D	0.03	-19.4746	8.0169	0.30387	0.1927:0.0:0.8073:0.0	.	1358;1353	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	D	1358	ENSP00000278935:E1358D	ENSP00000278935:E1358D	E	+	3	2	CEP164	116785869	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.132000	0.57977	0.848000	0.35191	0.561000	0.74099	GAG		0.587	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956	
TMPRSS13	84000	broad.mit.edu	37	11	117772978	117772978	+	Silent	SNP	G	G	A	rs190994759		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:117772978G>A	ENST00000524993.1	-	13	1737	c.1680C>T	c.(1678-1680)agC>agT	p.S560S	TMPRSS13_ENST00000528626.1_Silent_p.S525S	NM_001077263.2	NP_001070731.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	0						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.S560S(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATCGCACCTCGCTCTGAGGAA	0.577																																					p.S560S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1680T	11						.						49.0	54.0	52.0					11																	117772978		1985	4179	6164	117278188	SO:0001819	synonymous_variant	84000	exon13			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000524993.1:c.1680C>T	11.37:g.117772978G>A			117278188	NM_001077263	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000524993.1	37	CCDS41721.1																																																																																				0.577	TMPRSS13-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392317.1	NM_032046	
TMPRSS4	56649	broad.mit.edu	37	11	117978571	117978571	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:117978571C>T	ENST00000437212.3	+	6	737	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TMPRSS4_ENST00000522307.1_Missense_Mutation_p.R28C|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.R173C|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.R135C|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.R170C			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	175	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.R175C(2)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CCAGGAGCTTCGCATGCGGAA	0.542																																					p.R173C												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C517T	11						.						72.0	64.0	67.0					11																	117978571		2200	4296	6496	117483781	SO:0001583	missense	56649	exon6			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.523C>T	11.37:g.117978571C>T	ENSP00000416037:p.Arg175Cys		117483781	NM_001173551	A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	ENST00000437212.3	37	CCDS31684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.98|12.98	2.100554|2.100554	0.37048|0.37048	.|.	.|.	ENSG00000137648|ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824;ENST00000522151|ENST00000517544	T;D;T;T;T;T|.	0.88896|.	0.74;-2.44;0.74;0.74;0.74;0.74|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Speract/scavenger receptor-related (2);|.	0.611504|.	0.15422|.	N|.	0.263216|.	T|T	0.41396|0.41396	0.1157|0.1157	L|L	0.34521|0.34521	1.04|1.04	0.23754|0.23754	N|N	0.996939|0.996939	D;D;D;P;D|.	0.62365|.	0.964;0.978;0.991;0.951;0.987|.	B;B;B;B;P|.	0.46825|.	0.232;0.328;0.328;0.394;0.528|.	T|T	0.30995|0.30995	-0.9959|-0.9959	10|5	0.40728|.	T|.	0.16|.	.|.	14.4689|14.4689	0.67501|0.67501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150;135;28;175;173|.	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3|.	.;.;.;TMPS4_HUMAN;.|.	C|L	173;28;135;175;170;122|141	ENSP00000435184:R173C;ENSP00000428814:R28C;ENSP00000429209:R135C;ENSP00000416037:R175C;ENSP00000430547:R170C;ENSP00000428407:R122C|.	ENSP00000416037:R175C|.	R|S	+|+	1|2	0|0	TMPRSS4|TMPRSS4	117483781|117483781	0.997000|0.997000	0.39634|0.39634	0.943000|0.943000	0.38184|0.38184	0.040000|0.040000	0.13550|0.13550	3.827000|3.827000	0.55745|0.55745	2.472000|2.472000	0.83506|0.83506	0.585000|0.585000	0.79938|0.79938	CGC|TCG		0.542	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894	
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118074365G>A	ENST00000356289.5	-	6	723	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C|AMICA1_ENST00000292067.7_Missense_Mutation_p.R174C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	184	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.R174G(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502																																					p.R174C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C520T	11						.						78.0	78.0	78.0					11																	118074365		2200	4296	6496	117579575	SO:0001583	missense	120425	exon5			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.550C>T	11.37:g.118074365G>A	ENSP00000348635:p.Arg184Cys		117579575	NM_153206	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843756	0.16963	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	D;D;D;D	0.94723	-3.5;-3.5;-3.47;-3.5	4.26	-0.719	0.11201	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.534510	0.03913	N	0.282253	D	0.88074	0.6339	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.22346	0.068;0.068;0.068;0.068;0.055	B;B;B;B;B	0.20184	0.028;0.028;0.028;0.028;0.016	T	0.76520	-0.2929	10	0.44086	T	0.13	0.8174	2.4244	0.04455	0.2793:0.0:0.3162:0.4045	.	184;145;184;173;174	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	C	184;174;173;145;145	ENSP00000348635:R184C;ENSP00000292067:R174C;ENSP00000436117:R173C;ENSP00000431218:R145C	ENSP00000292067:R174C	R	-	1	0	AMICA1	117579575	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.403000	0.02497	0.011000	0.14865	0.491000	0.48974	CGT		0.502	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
MPZL2	10205	broad.mit.edu	37	11	118134857	118134857	+	Missense_Mutation	SNP	C	C	A	rs200147114	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118134857C>A	ENST00000278937.2	-	1	140	c.12G>T	c.(10-12)aaG>aaT	p.K4N	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Missense_Mutation_p.K4N	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	4					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K4N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GAGTAGAGCTCTTGCCATACA	0.592																																					p.K4N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12T	11						.						84.0	75.0	78.0					11																	118134857		2200	4296	6496	117640067	SO:0001583	missense	10205	exon1			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.12G>T	11.37:g.118134857C>A	ENSP00000278937:p.Lys4Asn		117640067	NM_144765	A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195232	0.78902	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97480	-4.4;-4.4	5.35	4.38	0.52667	.	1.221950	0.05569	N	0.570665	D	0.94918	0.8357	L	0.36672	1.1	0.23784	N	0.99686	B	0.19583	0.037	B	0.19391	0.025	D	0.86715	0.1938	10	0.59425	D	0.04	.	11.1875	0.48666	0.0:0.8147:0.1853:0.0	.	4	O60487	MPZL2_HUMAN	N	4	ENSP00000278937:K4N;ENSP00000408362:K4N	ENSP00000278937:K4N	K	-	3	2	MPZL2	117640067	0.372000	0.25064	0.447000	0.26932	0.988000	0.76386	0.747000	0.26290	2.516000	0.84829	0.591000	0.81541	AAG		0.592	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
UBE4A	9354	broad.mit.edu	37	11	118239408	118239408	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118239408G>A	ENST00000431736.2	+	3	256	c.184G>A	c.(184-186)Gat>Aat	p.D62N	UBE4A_ENST00000252108.3_Missense_Mutation_p.D62N					ubiquitination factor E4A									p.D62N(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGATGAATTCGATTACTCTGT	0.438																																					p.D62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184A	11						.						222.0	217.0	219.0					11																	118239408		2200	4296	6496	117744618	SO:0001583	missense	9354	exon3			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.184G>A	11.37:g.118239408G>A	ENSP00000387362:p.Asp62Asn		117744618	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146829	0.77888	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.46063	0.88;0.88	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.38838	1.175	0.80722	D	1	P;D	0.63880	0.893;0.993	B;P	0.51806	0.259;0.68	T	0.27123	-1.0083	10	0.35671	T	0.21	-13.7985	18.8905	0.92399	0.0:0.0:1.0:0.0	.	62;62	Q14139;Q14139-2	UBE4A_HUMAN;.	N	62	ENSP00000252108:D62N;ENSP00000387362:D62N	ENSP00000252108:D62N	D	+	1	0	UBE4A	117744618	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.947000	0.93000	2.707000	0.92482	0.655000	0.94253	GAT		0.438	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
ATP5L	10632	broad.mit.edu	37	11	118277667	118277667	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118277667C>T	ENST00000300688.3	+	2	580	c.68C>T	c.(67-69)tCg>tTg	p.S23L	ATP5L_ENST00000524422.1_Missense_Mutation_p.S23L|ATP5L_ENST00000529770.1_3'UTR	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	23					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)	p.S23L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		GTGACTTACTCGAAGCCTCGA	0.458																																					p.S23L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C68T	11						.						36.0	31.0	32.0					11																	118277667		2200	4296	6496	117782877	SO:0001583	missense	10632	exon2			AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.68C>T	11.37:g.118277667C>T	ENSP00000300688:p.Ser23Leu		117782877	NM_006476	A8K0K3|Q96BV6|Q9UBZ7	Missense_Mutation	SNP	ENST00000300688.3	37	CCDS8397.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604391	0.66445	.	.	ENSG00000167283	ENST00000300688;ENST00000524422	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	L	0.56769	1.78	0.80722	D	1	B	0.13594	0.008	B	0.20577	0.03	T	0.60697	-0.7212	9	0.42905	T	0.14	0.2161	20.0338	0.97549	0.0:1.0:0.0:0.0	.	23	O75964	ATP5L_HUMAN	L	23	.	ENSP00000300688:S23L	S	+	2	0	ATP5L	117782877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.157000	0.77461	2.836000	0.97738	0.655000	0.94253	TCG		0.458	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389220.1	NM_006476	
KMT2A	4297	broad.mit.edu	37	11	118343215	118343215	+	Silent	SNP	G	G	A	rs542752721		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118343215G>A	ENST00000389506.5	+	3	1341	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	KMT2A_ENST00000354520.4_Silent_p.P447P|KMT2A_ENST00000534358.1_Silent_p.P447P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	447					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P447P(1)									AGTCTACACCGAATAGTAGAT	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		16755	0.0		0.0	False		,,,				2504	0.001				p.P447P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	11						.						116.0	128.0	124.0					11																	118343215		2200	4296	6496	117848425	SO:0001819	synonymous_variant	4297	exon3			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1341G>A	11.37:g.118343215G>A			117848425	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118344081	118344081	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118344081G>T	ENST00000389506.5	+	3	2207	c.2207G>T	c.(2206-2208)aGg>aTg	p.R736M	KMT2A_ENST00000354520.4_Missense_Mutation_p.R736M|KMT2A_ENST00000534358.1_Missense_Mutation_p.R736M			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	736					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R736M(1)									AATAGAAAAAGGAAAAGAAAA	0.418																																					p.R736M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2207T	11						.						82.0	77.0	79.0					11																	118344081		2200	4296	6496	117849291	SO:0001583	missense	4297	exon3			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.2207G>T	11.37:g.118344081G>T	ENSP00000374157:p.Arg736Met		117849291	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027118	0.35797	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.84442	-1.84;1.93;-1.85;-1.84	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86535	0.5956	L	0.27053	0.805	0.46954	D	0.999263	D;D;D	0.67145	0.991;0.991;0.996	P;P;P	0.56700	0.687;0.687;0.804	D	0.87789	0.2617	10	0.87932	D	0	.	20.1894	0.98226	0.0:0.0:1.0:0.0	.	736;736;769	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	M	736;769;736;736	ENSP00000436786:R736M;ENSP00000432391:R769M;ENSP00000374157:R736M;ENSP00000346516:R736M	ENSP00000346516:R736M	R	+	2	0	MLL	117849291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.077000	0.71275	2.781000	0.95711	0.591000	0.81541	AGG		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118359410	118359410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118359410G>T	ENST00000389506.5	+	11	4414	c.4414G>T	c.(4414-4416)Gaa>Taa	p.E1472*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E1434*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.E1472*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1472					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.E1472*(1)									GGACCAGCTGGAAAATTGGTG	0.458																																					p.E1472X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4414T	11						.						123.0	108.0	113.0					11																	118359410		2200	4296	6496	117864620	SO:0001587	stop_gained	4297	exon11			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4414G>T	11.37:g.118359410G>T	ENSP00000374157:p.Glu1472*		117864620	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	44	10.836978	0.99476	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8024	0.96513	0.0:0.0:1.0:0.0	.	.	.	.	X	1472;1472;1434;382;184	.	ENSP00000346516:E1434X	E	+	1	0	MLL	117864620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.752000	0.94435	0.655000	0.94253	GAA		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118373354	118373354	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118373354C>A	ENST00000389506.5	+	27	6738	c.6738C>A	c.(6736-6738)gtC>gtA	p.V2246V	KMT2A_ENST00000354520.4_Silent_p.V2208V|KMT2A_ENST00000534358.1_Silent_p.V2249V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2246					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.V2246V(1)									TTGATCATGTCTTAGGGCCAC	0.423																																					p.V2246V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6738A	11						.						102.0	96.0	98.0					11																	118373354		2200	4296	6496	117878564	SO:0001819	synonymous_variant	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6738C>A	11.37:g.118373354C>A			117878564	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118375900	118375900	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118375900C>A	ENST00000389506.5	+	27	9284	c.9284C>A	c.(9283-9285)cCa>cAa	p.P3095Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3057Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3098Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3095					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.P3095Q(1)									CAAACTCTTCCAAATGGAGTG	0.473																																					p.P3095Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9284A	11						.						140.0	145.0	143.0					11																	118375900		2200	4295	6495	117881110	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9284C>A	11.37:g.118375900C>A	ENSP00000374157:p.Pro3095Gln		117881110	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577604	0.45902	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.91237	-2.81;-2.81;-2.73	6.08	6.08	0.98989	.	0.053101	0.85682	D	0.000000	D	0.94245	0.8152	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.58721	0.844;0.844	D	0.93965	0.7244	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3098;3095	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3098;3095;3057;2005	ENSP00000436786:P3098Q;ENSP00000374157:P3095Q;ENSP00000346516:P3057Q	ENSP00000346516:P3057Q	P	+	2	0	MLL	117881110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCA		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
KMT2A	4297	broad.mit.edu	37	11	118376743	118376743	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118376743G>A	ENST00000389506.5	+	27	10127	c.10127G>A	c.(10126-10128)gGc>gAc	p.G3376D	KMT2A_ENST00000354520.4_Missense_Mutation_p.G3338D|KMT2A_ENST00000534358.1_Missense_Mutation_p.G3379D			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3376					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.G3376D(1)									CCAGATATTGGCTCAATAAGC	0.488																																					p.G3376D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10127A	11						.						141.0	147.0	145.0					11																	118376743		2200	4295	6495	117881953	SO:0001583	missense	4297	exon27			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.10127G>A	11.37:g.118376743G>A	ENSP00000374157:p.Gly3376Asp		117881953	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321434	0.60634	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.86432	-2.12;-2.12;-2.08	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	L	0.46157	1.445	0.58432	D	0.99999	P;P	0.43352	0.804;0.804	B;B	0.41412	0.356;0.356	T	0.82502	-0.0425	10	0.34782	T	0.22	.	13.5041	0.61474	0.071:0.0:0.929:0.0	.	3379;3376	E9PQG7;Q03164	.;MLL1_HUMAN	D	3379;3376;3338;2286	ENSP00000436786:G3379D;ENSP00000374157:G3376D;ENSP00000346516:G3338D	ENSP00000346516:G3338D	G	+	2	0	MLL	117881953	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.690000	0.84178	2.809000	0.96659	0.467000	0.42956	GGC		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
ARCN1	372	broad.mit.edu	37	11	118452034	118452034	+	Missense_Mutation	SNP	G	G	A	rs367554879		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118452034G>A	ENST00000264028.4	+	2	172	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARCN1_ENST00000359415.4_Missense_Mutation_p.R67Q|ARCN1_ENST00000534182.2_Missense_Mutation_p.R26Q|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	26					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R26Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GAAATGACCCGAACTCGGATT	0.443																																					p.R26Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G77A	11						.	G	GLN/ARG,	0,4400		0,0,2200	122.0	113.0	116.0		77,	4.6	1.0	11		116	1,8589	1.2+/-3.3	0,1,4294	no	missense,intron	ARCN1	NM_001655.4,NM_001142281.1	43,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	26/512,	118452034	1,12989	2200	4295	6495	117957244	SO:0001583	missense	372	exon2			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.77G>A	11.37:g.118452034G>A	ENSP00000264028:p.Arg26Gln		117957244	NM_001655	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217482	0.95104	0.0	1.16E-4	ENSG00000095139	ENST00000359415;ENST00000542521;ENST00000534182;ENST00000264028	T;T	0.37058	1.22;1.25	5.55	4.64	0.57946	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.78314	0.713;0.991;0.991	T	0.75994	-0.3121	10	0.72032	D	0.01	-14.2731	14.5029	0.67734	0.0705:0.0:0.9294:0.0	.	26;67;26	E9PK34;B0YIW6;P48444	.;.;COPD_HUMAN	Q	67;26;26;26	ENSP00000352385:R67Q;ENSP00000264028:R26Q	ENSP00000264028:R26Q	R	+	2	0	ARCN1	117957244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.390000	0.97246	1.365000	0.46057	0.643000	0.83706	CGA		0.443	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1		
BCL9L	283149	broad.mit.edu	37	11	118773063	118773063	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118773063C>A	ENST00000334801.3	-	6	2353	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	463	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.K463N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCTCATATTTCTTCAGCCCGC	0.687																																					p.K463N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1389T	11						.						26.0	34.0	31.0					11																	118773063		2088	4086	6174	118278273	SO:0001583	missense	283149	exon6			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1389G>T	11.37:g.118773063C>A	ENSP00000335320:p.Lys463Asn		118278273	NM_182557	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030578	0.35797	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.78481	-1.18	4.62	4.62	0.57501	.	0.000000	0.45867	D	0.000326	D	0.84538	0.5494	L	0.58101	1.795	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.941	D	0.85967	0.1474	10	0.87932	D	0	-18.1729	13.078	0.59097	0.0:0.9193:0.0:0.0807	.	458;463	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	N	463;426;463;463	ENSP00000335320:K463N	ENSP00000335320:K463N	K	-	3	2	BCL9L	118278273	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	1.758000	0.38410	2.402000	0.81655	0.305000	0.20034	AAG		0.687	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
FOXR1	283150	broad.mit.edu	37	11	118850248	118850248	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:118850248C>T	ENST00000317011.3	+	4	706	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R161W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TCGGAGGCTTCGGCAAGCCAG	0.607																																					p.R161W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C481T	11						.						42.0	48.0	46.0					11																	118850248		2200	4295	6495	118355458	SO:0001583	missense	283150	exon4			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.481C>T	11.37:g.118850248C>T	ENSP00000314806:p.Arg161Trp		118355458	NM_181721	B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396586	0.62177	.	.	ENSG00000176302	ENST00000317011	D	0.95377	-3.69	5.61	5.61	0.85477	.	0.915017	0.09436	N	0.802382	D	0.95778	0.8626	L	0.45698	1.435	0.26818	N	0.968843	D	0.76494	0.999	P	0.53689	0.732	D	0.90523	0.4490	10	0.48119	T	0.1	.	15.5123	0.75793	0.0:1.0:0.0:0.0	.	161	Q6PIV2	FOXR1_HUMAN	W	161	ENSP00000314806:R161W	ENSP00000314806:R161W	R	+	1	2	FOXR1	118355458	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	2.724000	0.47285	2.826000	0.97356	0.655000	0.94253	CGG		0.607	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721	
CBL	867	broad.mit.edu	37	11	119103391	119103391	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:119103391G>T	ENST00000264033.4	+	2	805	c.429G>T	c.(427-429)gaG>gaT	p.E143D		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	143	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E143D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGTATGAGGAGAATTCTCAGC	0.363			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.E143D			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	11						.						74.0	73.0	73.0					11																	119103391		2199	4295	6494	118608601	SO:0001583	missense	867	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;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.429G>T	11.37:g.119103391G>T	ENSP00000264033:p.Glu143Asp		118608601	NM_005188	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385386	0.42308	.	.	ENSG00000110395	ENST00000264033	T	0.77620	-1.11	5.91	5.91	0.95273	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.098718	0.64402	D	0.000002	T	0.80954	0.4723	M	0.80508	2.5	0.80722	D	1	B	0.28128	0.201	B	0.35114	0.196	T	0.79678	-0.1703	10	0.56958	D	0.05	-43.436	13.4877	0.61375	0.0711:0.0:0.9289:0.0	.	143	P22681	CBL_HUMAN	D	143	ENSP00000264033:E143D	ENSP00000264033:E143D	E	+	3	2	CBL	118608601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.956000	0.49129	2.793000	0.96121	0.655000	0.94253	GAG		0.363	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
CBL	867	broad.mit.edu	37	11	119142447	119142447	+	Missense_Mutation	SNP	G	G	A	rs199739868		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:119142447G>A	ENST00000264033.4	+	3	822	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	149	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R149Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATTTGTAGGCGAAACCTAACC	0.338			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																												p.R149Q			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	11						.						70.0	72.0	71.0					11																	119142447		2199	4295	6494	118647657	SO:0001583	missense	867	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.446G>A	11.37:g.119142447G>A	ENSP00000264033:p.Arg149Gln		118647657	NM_005188	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412803	0.83340	.	.	ENSG00000110395	ENST00000264033	D	0.84146	-1.81	5.54	5.54	0.83059	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.93723	0.7994	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94121	0.7379	10	0.87932	D	0	-51.7478	19.8465	0.96710	0.0:0.0:1.0:0.0	.	149	P22681	CBL_HUMAN	Q	149	ENSP00000264033:R149Q	ENSP00000264033:R149Q	R	+	2	0	CBL	118647657	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	8.013000	0.88655	2.769000	0.95229	0.561000	0.74099	CGA		0.338	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
CBL	867	broad.mit.edu	37	11	119169179	119169179	+	Missense_Mutation	SNP	G	G	A	rs150811339		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:119169179G>A	ENST00000264033.4	+	15	2739	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	788	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R788Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGGCCCGCCGAACTCTCTCA	0.547			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17868	0.0		0.0	False		,,,				2504	0.0				p.R788Q			"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2363A	11						.	G	GLN/ARG	4,4394	8.1+/-20.4	0,4,2195	84.0	82.0	83.0		2363	5.6	1.0	11	dbSNP_134	83	0,8590		0,0,4295	yes	missense	CBL	NM_005188.2	43	0,4,6490	AA,AG,GG		0.0,0.091,0.0308	probably-damaging	788/907	119169179	4,12984	2199	4295	6494	118674389	SO:0001583	missense	867	exon15	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2363G>A	11.37:g.119169179G>A	ENSP00000264033:p.Arg788Gln		118674389	NM_005188	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.5	4.001384	0.74818	9.1E-4	0.0	ENSG00000110395	ENST00000264033	D	0.84370	-1.84	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	L	0.34521	1.04	0.58432	D	0.999999	D	0.71674	0.998	P	0.52627	0.704	D	0.86976	0.2101	10	0.62326	D	0.03	-45.5034	19.6034	0.95572	0.0:0.0:1.0:0.0	.	788	P22681	CBL_HUMAN	Q	788	ENSP00000264033:R788Q	ENSP00000264033:R788Q	R	+	2	0	CBL	118674389	1.000000	0.71417	0.973000	0.42090	0.482000	0.33219	8.599000	0.90856	2.623000	0.88846	0.650000	0.86243	CGA		0.547	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
USP47	55031	broad.mit.edu	37	11	11957967	11957967	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:11957967C>A	ENST00000399455.2	+	18	2167	c.2047C>A	c.(2047-2049)Cta>Ata	p.L683I	USP47_ENST00000527733.1_Missense_Mutation_p.L663I|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.L595I	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	683					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.L595I(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGGGGCTTCTACTAGGTGG	0.418																																					p.L595I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1783A	11						.						118.0	106.0	110.0					11																	11957967		1852	4087	5939	11914543	SO:0001583	missense	55031	exon16			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2047C>A	11.37:g.11957967C>A	ENSP00000382382:p.Leu683Ile		11914543	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	C	11.43	1.635552	0.29068	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04970	3.53;3.53;3.52	5.48	2.55	0.30701	.	0.136492	0.50627	D	0.000107	T	0.04452	0.0122	L	0.31752	0.955	0.54753	D	0.999982	B;B	0.31435	0.217;0.323	B;B	0.31751	0.064;0.135	T	0.44452	-0.9327	10	0.09843	T	0.71	.	8.7172	0.34419	0.0:0.6247:0.0:0.3753	.	663;595	E9PM46;Q96K76-2	.;.	I	595;663;683	ENSP00000339957:L595I;ENSP00000433146:L663I;ENSP00000382382:L683I	ENSP00000339957:L595I	L	+	1	2	USP47	11914543	1.000000	0.71417	0.512000	0.27736	0.993000	0.82548	1.781000	0.38644	0.250000	0.21479	0.655000	0.94253	CTA		0.418	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
USP47	55031	broad.mit.edu	37	11	11969590	11969590	+	Nonsense_Mutation	SNP	C	C	T	rs375838732		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:11969590C>T	ENST00000399455.2	+	22	3370	c.3250C>T	c.(3250-3252)Cga>Tga	p.R1084*	USP47_ENST00000527733.1_Nonsense_Mutation_p.R1064*|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Nonsense_Mutation_p.R996*	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1084					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.R996*(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAGGTCTTTCGAGTGTATGC	0.398																																					p.R996X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)	c.C2986T	11						.						154.0	143.0	146.0					11																	11969590		1846	4095	5941	11926166	SO:0001587	stop_gained	55031	exon20			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3250C>T	11.37:g.11969590C>T	ENSP00000382382:p.Arg1084*		11926166	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Nonsense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	C	45	11.420015	0.99558	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7803	0.69760	0.1449:0.8551:0.0:0.0	.	.	.	.	X	996;1064;1084	.	ENSP00000339957:R996X	R	+	1	2	USP47	11926166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.113000	0.57851	2.520000	0.84964	0.591000	0.81541	CGA		0.398	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
USP47	55031	broad.mit.edu	37	11	11976696	11976696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:11976696C>T	ENST00000399455.2	+	28	4058	c.3938C>T	c.(3937-3939)gCg>gTg	p.A1313V	USP47_ENST00000527733.1_Missense_Mutation_p.A1293V|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000539466.1_Missense_Mutation_p.A95V|USP47_ENST00000339865.5_Missense_Mutation_p.A1225V	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1313				A -> G (in Ref. 1; BAA91348). {ECO:0000305}.	base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.A1225V(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GATGATGGTGCGGTCATATTT	0.343																																					p.A1225V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3674T	11						.						182.0	166.0	171.0					11																	11976696		1867	4107	5974	11933272	SO:0001583	missense	55031	exon26			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3938C>T	11.37:g.11976696C>T	ENSP00000382382:p.Ala1313Val		11933272	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	C	25.9	4.685511	0.88639	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000539466;ENST00000399455	T;T;T	0.04551	3.6;3.6;3.6	5.95	5.04	0.67666	.	0.049287	0.85682	N	0.000000	T	0.06462	0.0166	L	0.46157	1.445	0.58432	D	0.999995	B;B	0.27264	0.173;0.168	B;B	0.17979	0.013;0.02	T	0.17899	-1.0354	10	0.51188	T	0.08	.	14.5519	0.68073	0.0:0.9294:0.0:0.0706	.	1293;1225	E9PM46;Q96K76-2	.;.	V	1225;1293;95;1313	ENSP00000339957:A1225V;ENSP00000433146:A1293V;ENSP00000382382:A1313V	ENSP00000339957:A1225V	A	+	2	0	USP47	11933272	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	6.087000	0.71362	1.516000	0.48900	0.650000	0.86243	GCG		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
PVRL1	5818	broad.mit.edu	37	11	119546007	119546007	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:119546007G>A	ENST00000264025.3	-	5	1395	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	PVRL1_ENST00000524510.1_5'Flank|PVRL1_ENST00000340882.2_Missense_Mutation_p.L289F|PVRL1_ENST00000341398.2_Missense_Mutation_p.L289F	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	289	Ig-like C2-type 2.|Interaction with FGFR. {ECO:0000250}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.L289F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTTGGGGAGAGAGCCATTT	0.582																																					p.L289F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C865T	11						.						111.0	101.0	104.0					11																	119546007		2199	4295	6494	119051217	SO:0001583	missense	5818	exon5			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.865C>T	11.37:g.119546007G>A	ENSP00000264025:p.Leu289Phe		119051217	NM_002855	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011955	0.75046	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.16457	2.34;2.34;2.34	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.80028	2.48	0.52501	D	0.999952	D;D;D	0.71674	0.992;0.998;0.987	P;D;P	0.70935	0.897;0.971;0.854	T	0.24476	-1.0159	10	0.19147	T	0.46	.	18.3075	0.90188	0.0:0.0:1.0:0.0	.	289;289;289	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	F	289	ENSP00000344974:L289F;ENSP00000264025:L289F;ENSP00000345289:L289F	ENSP00000264025:L289F	L	-	1	0	PVRL1	119051217	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	3.475000	0.53136	2.559000	0.86315	0.655000	0.94253	CTC		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		
TRIM29	23650	broad.mit.edu	37	11	119986076	119986076	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:119986076C>A	ENST00000341846.5	-	8	2095	c.1674G>T	c.(1672-1674)caG>caT	p.Q558H	TRIM29_ENST00000524816.3_Missense_Mutation_p.Q124H|TRIM29_ENST00000529044.1_Missense_Mutation_p.Q297H|TRIM29_ENST00000528870.1_Missense_Mutation_p.Q91H|TRIM29_ENST00000525887.1_5'UTR|TRIM29_ENST00000541857.1_Missense_Mutation_p.Q291H	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	558					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q558H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATTTCCAAGTCTGGGGCTGGG	0.622																																					p.Q558H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1674T	11						.						57.0	55.0	56.0					11																	119986076		2199	4295	6494	119491286	SO:0001583	missense	23650	exon8			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1674G>T	11.37:g.119986076C>A	ENSP00000343129:p.Gln558His		119491286	NM_012101	Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	CCDS8428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.52|18.52	3.642069|3.642069	0.67244|0.67244	.|.	.|.	ENSG00000137699|ENSG00000137699	ENST00000525327;ENST00000524956|ENST00000341846;ENST00000541857;ENST00000533302;ENST00000524816;ENST00000528870;ENST00000529044;ENST00000526881	.|T	.|0.54675	.|0.56	5.21|5.21	3.32|3.32	0.38043|0.38043	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.32530|0.32530	0.975|0.975	0.34859|0.34859	D|D	0.742375|0.742375	.|D;D;D	.|0.89917	.|0.997;0.997;1.0	.|D;D;D	.|0.83275	.|0.995;0.995;0.996	T|T	0.63229|0.63229	-0.6684|-0.6684	5|9	.|.	.|.	.|.	.|.	8.5224|8.5224	0.33285|0.33285	0.0:0.815:0.0:0.185|0.0:0.815:0.0:0.185	.|.	.|291;297;558	.|B7Z8U9;E9PRL4;Q14134	.|.;.;TRI29_HUMAN	Y|H	151;96|558;291;139;124;91;297;93	.|ENSP00000343129:Q558H	.|.	D|Q	-|-	1|3	0|2	TRIM29|TRIM29	119491286|119491286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.833000|1.833000	0.39161|0.39161	1.174000|1.174000	0.42811|0.42811	0.462000|0.462000	0.41574|0.41574	GAC|CAG		0.622	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101	
POU2F3	25833	broad.mit.edu	37	11	120178283	120178283	+	Missense_Mutation	SNP	G	G	A	rs373394231		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120178283G>A	ENST00000543440.2	+	9	1015	c.865G>A	c.(865-867)Gag>Aag	p.E289K	POU2F3_ENST00000260264.4_Missense_Mutation_p.E291K	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	289					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.E289K(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GACCAGCATCGAGACCAACAT	0.572																																					p.E289K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	11						.		LYS/GLU	0,4406		0,0,2203	152.0	137.0	142.0		865	5.6	1.0	11		142	1,8597	1.2+/-3.3	0,1,4298	no	missense	POU2F3	NM_014352.3	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	289/437	120178283	1,13003	2203	4299	6502	119683493	SO:0001583	missense	25833	exon9			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.865G>A	11.37:g.120178283G>A	ENSP00000441687:p.Glu289Lys		119683493	NM_014352	A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	36	5.889489	0.97068	0.0	1.16E-4	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	5.62	5.62	0.85841	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.926;0.949	D	0.97754	1.0216	10	0.66056	D	0.02	.	19.6614	0.95875	0.0:0.0:1.0:0.0	.	243;289	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	K	291;289;243;74	ENSP00000441687:E291K;ENSP00000260264:E289K;ENSP00000435738:E243K;ENSP00000436236:E74K	ENSP00000260264:E289K	E	+	1	0	POU2F3	119683493	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.805000	0.99149	2.633000	0.89246	0.655000	0.94253	GAG		0.572	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		
ARHGEF12	23365	broad.mit.edu	37	11	120318989	120318989	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120318989G>T	ENST00000397843.2	+	20	1835	c.1669G>T	c.(1669-1671)Gta>Tta	p.V557L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V538L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.V454L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	557	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V557L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCATTTGGGAGTAAAAGTGAA	0.408			T	MLL	AML																																p.V538L			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612T	11						.						93.0	90.0	91.0					11																	120318989		1857	4087	5944	119824199	SO:0001583	missense	23365	exon19			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1669G>T	11.37:g.120318989G>T	ENSP00000380942:p.Val557Leu		119824199	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.529374	0.96446	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.83506	-1.73;-1.73;-1.73	5.28	5.28	0.74379	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.44483	D	0.000457	D	0.90017	0.6883	M	0.67953	2.075	0.58432	D	0.999999	D;P;P	0.89917	1.0;0.815;0.846	D;P;P	0.91635	0.999;0.646;0.759	D	0.87747	0.2589	10	0.27785	T	0.31	-13.3017	18.915	0.92501	0.0:0.0:1.0:0.0	.	454;538;557	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	557;538;454	ENSP00000380942:V557L;ENSP00000349056:V538L;ENSP00000432984:V454L	ENSP00000349056:V538L	V	+	1	0	ARHGEF12	119824199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.430000	0.97488	2.465000	0.83290	0.585000	0.79938	GTA		0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
ARHGEF12	23365	broad.mit.edu	37	11	120329901	120329901	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120329901G>T	ENST00000397843.2	+	26	2565	c.2399G>T	c.(2398-2400)aGa>aTa	p.R800I	AP000758.1_ENST00000595283.1_Silent_p.L49L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R781I|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R697I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	800	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R800I(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACACTGAAAGAGCTCATGTT	0.393			T	MLL	AML																																p.R781I			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2342T	11						.						102.0	98.0	99.0					11																	120329901		1846	4112	5958	119835111	SO:0001583	missense	23365	exon25			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2399G>T	11.37:g.120329901G>T	ENSP00000380942:p.Arg800Ile		119835111	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430313	0.96150	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67523	-0.27;-0.27;-0.27	5.62	5.62	0.85841	Dbl homology (DH) domain (5);	0.000000	0.49305	D	0.000156	T	0.81475	0.4830	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	0.958;1.0;1.0	P;D;D	0.91635	0.851;0.999;0.999	T	0.78048	-0.2356	10	0.30854	T	0.27	-18.0044	19.6767	0.95936	0.0:0.0:1.0:0.0	.	697;781;800	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	I	800;781;697	ENSP00000380942:R800I;ENSP00000349056:R781I;ENSP00000432984:R697I	ENSP00000349056:R781I	R	+	2	0	ARHGEF12	119835111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.634000	0.89283	0.655000	0.94253	AGA		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
GRIK4	2900	broad.mit.edu	37	11	120690494	120690494	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120690494T>C	ENST00000527524.2	+	6	663	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F126L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	126					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.F126L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCCAGAGGAGTTCGTCAAGTT	0.532																																					p.F126L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T376C	11						.						235.0	241.0	239.0					11																	120690494		2203	4299	6502	120195704	SO:0001583	missense	2900	exon4			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.376T>C	11.37:g.120690494T>C	ENSP00000435648:p.Phe126Leu		120195704	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300088	0.23650	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.21361	2.01;2.01	4.27	4.27	0.50696	Extracellular ligand-binding receptor (1);	0.099966	0.64402	D	0.000002	T	0.12178	0.0296	N	0.16478	0.41	0.38613	D	0.950951	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.09662	-1.0664	10	0.09843	T	0.71	.	13.5674	0.61826	0.0:0.0:0.0:1.0	.	126;126	A6H8K8;Q16099	.;GRIK4_HUMAN	L	126	ENSP00000435648:F126L;ENSP00000404063:F126L	ENSP00000404063:F126L	F	+	1	0	GRIK4	120195704	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.933000	0.70130	1.782000	0.52362	0.459000	0.35465	TTC		0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
GRIK4	2900	broad.mit.edu	37	11	120823599	120823599	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120823599A>C	ENST00000527524.2	+	15	1913	c.1626A>C	c.(1624-1626)ccA>ccC	p.P542P	GRIK4_ENST00000438375.2_Silent_p.P542P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	542					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P542P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCCTGGACCCATTTTCTCCGG	0.542											OREG0021429	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P542P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1626C	11						.						146.0	135.0	139.0					11																	120823599		2203	4299	6502	120328809	SO:0001819	synonymous_variant	2900	exon13			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1626A>C	11.37:g.120823599A>C		1506	120328809	NM_014619	A8K9L1	Silent	SNP	ENST00000527524.2	37	CCDS8433.1																																																																																				0.542	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TBCEL	219899	broad.mit.edu	37	11	120929086	120929086	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120929086A>C	ENST00000529397.1	+	6	845	c.745A>C	c.(745-747)Aat>Cat	p.N249H	TBCEL_ENST00000422003.2_Missense_Mutation_p.N249H	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	249						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.N249H(1)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGATAAACTAAATTCATTTCC	0.378																																					p.N249H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A745C	11						.						118.0	114.0	116.0					11																	120929086		2203	4298	6501	120434296	SO:0001583	missense	219899	exon6			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.745A>C	11.37:g.120929086A>C	ENSP00000437184:p.Asn249His		120434296	NM_152715	Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.832182	0.50845	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T;T	0.45276	0.9;0.9;0.9	5.75	5.75	0.90469	.	0.043303	0.85682	D	0.000000	T	0.57577	0.2063	L	0.59436	1.845	0.80722	D	1	D	0.58620	0.983	P	0.58873	0.847	T	0.58825	-0.7568	10	0.54805	T	0.06	0.9399	16.0563	0.80809	1.0:0.0:0.0:0.0	.	249	Q5QJ74	TBCEL_HUMAN	H	249;249;16;52	ENSP00000437184:N249H;ENSP00000403925:N249H;ENSP00000436419:N16H	ENSP00000403925:N249H	N	+	1	0	TBCEL	120434296	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.313000	0.96297	2.183000	0.69458	0.528000	0.53228	AAT		0.378	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715	
TECTA	7007	broad.mit.edu	37	11	120980049	120980049	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120980049G>A	ENST00000392793.1	+	4	599	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TECTA_ENST00000264037.2_Missense_Mutation_p.E110K			O75443	TECTA_HUMAN	tectorin alpha	110	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.E110K(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATTCGAGGCGAGATCTATTA	0.512																																					p.E110K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G328A	11						.						104.0	99.0	100.0					11																	120980049		2203	4299	6502	120485259	SO:0001583	missense	7007	exon3			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.328G>A	11.37:g.120980049G>A	ENSP00000376543:p.Glu110Lys		120485259	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133159	0.77662	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.33654	1.4;1.4	5.46	5.46	0.80206	Nidogen, extracellular domain (2);	0.053752	0.64402	D	0.000001	T	0.25419	0.0618	N	0.11892	0.195	0.47511	D	0.999442	D	0.53619	0.961	B	0.40134	0.32	T	0.12682	-1.0538	10	0.59425	D	0.04	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	110	O75443	TECTA_HUMAN	K	110	ENSP00000376543:E110K;ENSP00000264037:E110K	ENSP00000264037:E110K	E	+	1	0	TECTA	120485259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.835000	0.86780	2.573000	0.86826	0.655000	0.94253	GAG		0.512	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	120983872	120983872	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:120983872C>T	ENST00000392793.1	+	5	849	c.578C>T	c.(577-579)gCg>gTg	p.A193V	TECTA_ENST00000264037.2_Missense_Mutation_p.A193V			O75443	TECTA_HUMAN	tectorin alpha	193	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A193V(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGGGACGGCGAGTGGCGGC	0.572											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A193V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578T	11						.						81.0	76.0	78.0					11																	120983872		2203	4299	6502	120489082	SO:0001583	missense	7007	exon4			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.578C>T	11.37:g.120983872C>T	ENSP00000376543:p.Ala193Val	1508	120489082	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357218	0.41801	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.72615	-0.67;-0.67	5.37	4.46	0.54185	Nidogen, extracellular domain (3);	0.182139	0.47852	N	0.000204	T	0.65450	0.2692	M	0.75777	2.31	0.50171	D	0.999855	P	0.41214	0.742	B	0.31191	0.125	T	0.67417	-0.5676	10	0.30854	T	0.27	.	14.2309	0.65892	0.0:0.929:0.0:0.071	.	193	O75443	TECTA_HUMAN	V	193	ENSP00000376543:A193V;ENSP00000264037:A193V	ENSP00000264037:A193V	A	+	2	0	TECTA	120489082	1.000000	0.71417	0.124000	0.21820	0.002000	0.02628	7.603000	0.82811	1.501000	0.48654	-0.145000	0.13849	GCG		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121000473	121000473	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:121000473C>A	ENST00000392793.1	+	10	2765	c.2494C>A	c.(2494-2496)Cta>Ata	p.L832I	TECTA_ENST00000264037.2_Missense_Mutation_p.L832I			O75443	TECTA_HUMAN	tectorin alpha	832	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L832I(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGACATAGGTCTATTGTACAT	0.502																																					p.L832I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2494A	11						.						169.0	161.0	164.0					11																	121000473		2203	4299	6502	120505683	SO:0001583	missense	7007	exon9			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2494C>A	11.37:g.121000473C>A	ENSP00000376543:p.Leu832Ile		120505683	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	10.00	1.233163	0.22626	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59502	0.26;0.26	5.56	3.6	0.41247	von Willebrand factor, type D domain (3);	0.224058	0.38837	N	0.001551	T	0.53094	0.1775	M	0.69823	2.125	0.30435	N	0.776784	B	0.21905	0.062	B	0.29267	0.1	T	0.48822	-0.9001	10	0.25751	T	0.34	.	7.9369	0.29935	0.1215:0.6914:0.118:0.0691	.	832	O75443	TECTA_HUMAN	I	832	ENSP00000376543:L832I;ENSP00000264037:L832I	ENSP00000264037:L832I	L	+	1	2	TECTA	120505683	0.079000	0.21365	0.897000	0.35233	0.370000	0.29829	0.552000	0.23376	2.630000	0.89119	0.563000	0.77884	CTA		0.502	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121000676	121000676	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:121000676C>A	ENST00000392793.1	+	10	2968	c.2697C>A	c.(2695-2697)gaC>gaA	p.D899E	TECTA_ENST00000264037.2_Missense_Mutation_p.D899E			O75443	TECTA_HUMAN	tectorin alpha	899	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.D899E(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAACAATGACTCGGAGCTGC	0.562																																					p.D899E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2697A	11						.						71.0	68.0	69.0					11																	121000676		2203	4299	6502	120505886	SO:0001583	missense	7007	exon9			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2697C>A	11.37:g.121000676C>A	ENSP00000376543:p.Asp899Glu		120505886	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697637	0.68386	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.35236	1.32;1.32	5.65	1.64	0.23874	von Willebrand factor, type D domain (1);	0.000000	0.64402	D	0.000003	T	0.49508	0.1561	L	0.53249	1.67	0.32667	N	0.517313	D	0.64830	0.994	D	0.72625	0.978	T	0.57429	-0.7813	10	0.36615	T	0.2	.	11.1389	0.48392	0.0:0.7489:0.0:0.2511	.	899	O75443	TECTA_HUMAN	E	899	ENSP00000376543:D899E;ENSP00000264037:D899E	ENSP00000264037:D899E	D	+	3	2	TECTA	120505886	1.000000	0.71417	0.951000	0.38953	0.865000	0.49528	2.254000	0.43214	0.333000	0.23563	0.557000	0.71058	GAC		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121008365	121008365	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:121008365C>A	ENST00000392793.1	+	11	3448	c.3177C>A	c.(3175-3177)atC>atA	p.I1059I	TECTA_ENST00000264037.2_Silent_p.I1059I			O75443	TECTA_HUMAN	tectorin alpha	1059					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.I1059I(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACTGCCAGATCTTCTGCTATT	0.567																																					p.I1059I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3177A	11						.						109.0	89.0	96.0					11																	121008365		2203	4299	6502	120513575	SO:0001819	synonymous_variant	7007	exon10			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3177C>A	11.37:g.121008365C>A			120513575	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SC5D	6309	broad.mit.edu	37	11	121175083	121175083	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:121175083G>A	ENST00000392789.2	+	3	461	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SC5D_ENST00000264027.4_Missense_Mutation_p.R75Q|SC5D_ENST00000534230.1_Missense_Mutation_p.R75Q	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	75					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.R75Q(1)									CAAGTCCGTCGAGAGATTAAG	0.348																																					p.R75Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	11						.						122.0	118.0	119.0					11																	121175083		2203	4299	6502	120680293	SO:0001583	missense	6309	exon3				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.224G>A	11.37:g.121175083G>A	ENSP00000376539:p.Arg75Gln		120680293	NM_006918	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028673	0.54790	.	.	ENSG00000109929	ENST00000264027;ENST00000527762;ENST00000534230;ENST00000392789	D;D;D;D	0.86030	-1.64;-1.63;-2.06;-1.64	6.07	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	L	0.43923	1.385	0.34515	D	0.707556	B;D	0.56287	0.032;0.975	B;B	0.40782	0.008;0.34	T	0.77996	-0.2377	10	0.12766	T	0.61	-1.0569	12.2355	0.54514	0.1395:0.0:0.8605:0.0	.	75;75	O75845;E9PQ91	SC5D_HUMAN;.	Q	75;82;75;75	ENSP00000264027:R75Q;ENSP00000436290:R82Q;ENSP00000432550:R75Q;ENSP00000376539:R75Q	ENSP00000264027:R75Q	R	+	2	0	SC5DL	120680293	1.000000	0.71417	0.532000	0.27989	0.933000	0.57130	5.652000	0.67959	0.913000	0.36797	-0.136000	0.14681	CGA		0.348	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956	
MUC5B	727897	broad.mit.edu	37	11	1265445	1265445	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:1265445G>A	ENST00000529681.1	+	31	7393	c.7335G>A	c.(7333-7335)acG>acA	p.T2445T	MUC5B_ENST00000447027.1_Silent_p.T2448T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2445	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2448T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACTGAGTCCA	0.672																																					p.T2445T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7335A	11						.						70.0	75.0	73.0					11																	1265445		1998	4093	6091	1222021	SO:0001819	synonymous_variant	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7335G>A	11.37:g.1265445G>A			1222021	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
BLID	414899	broad.mit.edu	37	11	121986629	121986629	+	Start_Codon_SNP	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:121986629A>C	ENST00000560104.1	-	1	294	c.2T>G	c.(1-3)aTg>aGg	p.M1R		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	1					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.M1R(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		CAAAGTCACCATAATTTGAAG	0.398											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M1R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2G	11						.						38.0	37.0	37.0					11																	121986629		2201	4297	6498	121491839	SO:0001582	initiator_codon_variant	414899	exon1			AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.2T>G	11.37:g.121986629A>C	ENSP00000453153:p.Met1Arg	1515	121491839	NM_001001786	A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	A	3.313	-0.140487	0.06669	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	4.49	3.36	0.38483	.	.	.	.	.	T	0.48390	0.1497	.	.	.	0.80722	D	1	B	0.24963	0.115	B	0.28139	0.086	T	0.47849	-0.9085	7	0.87932	D	0	.	6.5337	0.22341	0.8912:0.0:0.1088:0.0	.	1	Q8IZY5	BLID_HUMAN	R	1	.	ENSP00000448995:M1R	M	-	2	0	BLID;AP001924.1	121491839	0.002000	0.14202	0.005000	0.12908	0.015000	0.08874	1.436000	0.34980	0.763000	0.33175	-0.326000	0.08463	ATG		0.398	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786	Missense_Mutation
C11orf63	79864	broad.mit.edu	37	11	122756701	122756701	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:122756701A>C	ENST00000531316.1	+	1	236	c.144A>C	c.(142-144)gaA>gaC	p.E48D	C11orf63_ENST00000307257.6_Missense_Mutation_p.E48D|C11orf63_ENST00000227349.2_Missense_Mutation_p.E48D			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	48					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.E48D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTGATTCAGAAAGCCTCACGC	0.468																																					p.E48D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A144C	11						.						95.0	98.0	97.0					11																	122756701		2202	4299	6501	122261911	SO:0001583	missense	79864	exon2			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.144A>C	11.37:g.122756701A>C	ENSP00000431669:p.Glu48Asp		122261911	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.028937	0.54790	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.65364	-0.15;-0.15	5.57	4.42	0.53409	.	0.220192	0.31031	N	0.008393	T	0.70885	0.3275	M	0.64997	1.995	0.38024	D	0.934949	D;D	0.69078	0.997;0.997	P;P	0.61800	0.894;0.894	T	0.73585	-0.3936	10	0.51188	T	0.08	-9.9487	9.1979	0.37240	0.9132:0.0:0.0868:0.0	.	48;48	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	D	48	ENSP00000227349:E48D;ENSP00000431669:E48D	ENSP00000227349:E48D	E	+	3	2	C11orf63	122261911	1.000000	0.71417	0.979000	0.43373	0.786000	0.44442	1.600000	0.36762	0.910000	0.36722	0.533000	0.62120	GAA		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
C11orf63	79864	broad.mit.edu	37	11	122775092	122775092	+	Silent	SNP	G	G	A	rs149285900		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:122775092G>A	ENST00000531316.1	+	2	896	c.804G>A	c.(802-804)ccG>ccA	p.P268P	C11orf63_ENST00000307257.6_Silent_p.P268P|C11orf63_ENST00000227349.2_Silent_p.P268P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	268					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.P268P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TACCCACCCCGAAAACGGACT	0.423																																					p.P268P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804A	11						.						149.0	166.0	161.0					11																	122775092		2202	4299	6501	122280302	SO:0001819	synonymous_variant	79864	exon3			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.804G>A	11.37:g.122775092G>A			122280302	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	CCDS8438.1																																																																																				0.423	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
BSX	390259	broad.mit.edu	37	11	122848592	122848592	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:122848592G>A	ENST00000343035.2	-	3	515	c.467C>T	c.(466-468)aCg>aTg	p.T156M		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	156					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T156M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTGGAACCACGTTTTCACCTG	0.512																																					p.T156M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	11						.						58.0	62.0	61.0					11																	122848592		1903	4144	6047	122353802	SO:0001583	missense	390259	exon3				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.467C>T	11.37:g.122848592G>A	ENSP00000344285:p.Thr156Met		122353802	NM_001098169		Missense_Mutation	SNP	ENST00000343035.2	37	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965847	0.92855	.	.	ENSG00000188909	ENST00000343035	D	0.96232	-3.95	5.53	5.53	0.82687	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99180	1.0867	10	0.59425	D	0.04	.	19.472	0.94966	0.0:0.0:1.0:0.0	.	156	Q3C1V8	BSH_HUMAN	M	156	ENSP00000344285:T156M	ENSP00000344285:T156M	T	-	2	0	BSX	122353802	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.102000	0.94226	2.585000	0.87301	0.655000	0.94253	ACG		0.512	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169	
MUC5B	727897	broad.mit.edu	37	11	1271837	1271837	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:1271837G>A	ENST00000529681.1	+	31	13785	c.13727G>A	c.(13726-13728)gGc>gAc	p.G4576D	MUC5B_ENST00000447027.1_Missense_Mutation_p.G4579D|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4576	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.G4531D(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGGCCACCGGCTCTGTGGCC	0.657																																					p.G4576D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13727A	11						.						71.0	105.0	94.0					11																	1271837		2014	4160	6174	1228413	SO:0001583	missense	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13727G>A	11.37:g.1271837G>A	ENSP00000436812:p.Gly4576Asp		1228413	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	5.591|5.591	0.293852|0.293852	0.10567|0.10567	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000535652|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.18657	.|2.2;2.38	2.37|2.37	-4.74|-4.74	0.03249|0.03249	.|.	.|.	.|.	.|.	.|.	T|T	0.15435|0.15435	0.0372|0.0372	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.008;0.008	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.30504|0.30504	-0.9976|-0.9976	6|9	0.07325|0.87932	T|D	0.83|0	.|.	5.2764|5.2764	0.15651|0.15651	0.1593:0.3588:0.4818:0.0|0.1593:0.3588:0.4818:0.0	.|.	.|5049;4579	.|A7Y9J9;E9PBJ0	.|.;.	T|D	352|4576;4579;4520;4426	.|ENSP00000436812:G4576D;ENSP00000415793:G4579D	ENSP00000439776:A352T|ENSP00000343037:G4520D	A|G	+|+	1|2	0|0	MUC5B|MUC5B	1228413|1228413	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	.|.	.|.	-1.509000|-1.509000	0.01798|0.01798	0.184000|0.184000	0.17185|0.17185	GCT|GGC		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MICALCL	84953	broad.mit.edu	37	11	12316281	12316281	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:12316281G>T	ENST00000256186.2	+	3	1594	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	435					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.D435Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCTGCCTGAAGATAGTGCGCA	0.557																																					p.D435Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1303T	11						.						62.0	66.0	65.0					11																	12316281		1969	4138	6107	12272857	SO:0001583	missense	84953	exon3			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1303G>T	11.37:g.12316281G>T	ENSP00000256186:p.Asp435Tyr		12272857	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504688	0.44558	.	.	ENSG00000133808	ENST00000256186	T	0.12672	2.66	5.8	1.68	0.24146	.	0.584295	0.15221	N	0.273927	T	0.16385	0.0394	L	0.56769	1.78	0.09310	N	1	D	0.57899	0.981	P	0.47744	0.556	T	0.12293	-1.0553	10	0.56958	D	0.05	.	4.9078	0.13807	0.2627:0.1544:0.5829:0.0	.	435	Q6ZW33	MICLK_HUMAN	Y	435	ENSP00000256186:D435Y	ENSP00000256186:D435Y	D	+	1	0	MICALCL	12272857	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.535000	0.23114	0.048000	0.15891	0.460000	0.39030	GAT		0.557	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	
HSPA8	3312	broad.mit.edu	37	11	122930366	122930366	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:122930366C>G	ENST00000532636.1	-	5	1054	c.935G>C	c.(934-936)gGc>gCc	p.G312A	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.G312A|HSPA8_ENST00000533540.1_Missense_Mutation_p.G166A|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.G293A|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.G76A|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.G312A|HSPA8_ENST00000453788.2_Missense_Mutation_p.G312A			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	312	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.G312A(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTCCAGGGTGCCACGGAACAG	0.483																																					p.G312A	Colon(21;486 594 5900 6733 14272)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935C	11						.						49.0	51.0	50.0					11																	122930366		2202	4299	6501	122435576	SO:0001583	missense	3312	exon5			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.935G>C	11.37:g.122930366C>G	ENSP00000437125:p.Gly312Ala		122435576	NM_153201	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911379	0.92178	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53;5.53;5.53;5.53	4.65	4.65	0.58169	.	0.056048	0.64402	D	0.000002	T	0.03095	0.0091	L	0.31420	0.93	0.80722	D	1	B;D;D;B	0.89917	0.006;1.0;1.0;0.006	B;D;D;B	0.80764	0.029;0.994;0.99;0.029	T	0.63862	-0.6541	10	0.87932	D	0	-18.0675	17.9506	0.89052	0.0:1.0:0.0:0.0	.	312;312;312;312	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	A	312;166;312;312;312;76;293;252	ENSP00000437125:G312A;ENSP00000437189:G166A;ENSP00000432083:G312A;ENSP00000404372:G312A;ENSP00000227378:G312A;ENSP00000433316:G76A;ENSP00000433584:G293A;ENSP00000432884:G252A	ENSP00000227378:G312A	G	-	2	0	HSPA8	122435576	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.672000	0.83956	2.308000	0.77769	0.556000	0.70494	GGC		0.483	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1		
GRAMD1B	57476	broad.mit.edu	37	11	123480967	123480967	+	Missense_Mutation	SNP	G	G	A	rs542866239		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123480967G>A	ENST00000529750.1	+	13	1738	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D471N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D478N|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.D162N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	471						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D471N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCTCACCCACGACGTGCCCTA	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17879	0.0		0.0	False		,,,				2504	0.0				p.D471N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1411A	11						.						120.0	119.0	119.0					11																	123480967		2071	4205	6276	122986177	SO:0001583	missense	57476	exon13			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1411G>A	11.37:g.123480967G>A	ENSP00000436500:p.Asp471Asn		122986177	NM_020716	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265394	0.95399	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.54279	1.47;1.45;1.44;1.44;0.58	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;0.998;0.995	P;D;P;P	0.65874	0.837;0.939;0.825;0.837	T	0.73623	-0.3924	10	0.45353	T	0.12	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	431;162;471;478	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	N	478;478;471;471;431;162	ENSP00000402457:D478N;ENSP00000325628:D471N;ENSP00000436500:D471N;ENSP00000432987:D431N;ENSP00000388458:D162N	ENSP00000325628:D471N	D	+	1	0	GRAMD1B	122986177	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.456000	0.80751	2.554000	0.86153	0.561000	0.74099	GAC		0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
GRAMD1B	57476	broad.mit.edu	37	11	123483532	123483532	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123483532G>T	ENST00000529750.1	+	14	1881	c.1554G>T	c.(1552-1554)aaG>aaT	p.K518N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K518N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K525N|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K209N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	518						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K518N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCATCGAGAAGAACTTCTGGA	0.537																																					p.K518N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1554T	11						.						54.0	55.0	55.0					11																	123483532		1943	4131	6074	122988742	SO:0001583	missense	57476	exon14			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1554G>T	11.37:g.123483532G>T	ENSP00000436500:p.Lys518Asn		122988742	NM_020716	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117656	0.77323	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.42	4.49	0.54785	.	0.049931	0.85682	D	0.000000	T	0.48786	0.1519	M	0.65975	2.015	0.58432	D	0.999995	D;D;D;D	0.71674	0.998;0.996;0.986;0.983	D;P;P;D	0.69307	0.963;0.866;0.722;0.938	T	0.41574	-0.9501	10	0.49607	T	0.09	.	10.2129	0.43152	0.1486:0.0:0.8514:0.0	.	478;209;518;525	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	N	525;525;518;518;478;209	ENSP00000402457:K525N;ENSP00000325628:K518N;ENSP00000436500:K518N;ENSP00000432987:K478N;ENSP00000388458:K209N	ENSP00000325628:K518N	K	+	3	2	GRAMD1B	122988742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.040000	0.41203	2.699000	0.92147	0.563000	0.77884	AAG		0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
SCN3B	55800	broad.mit.edu	37	11	123524498	123524498	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123524498G>T	ENST00000392770.2	-	1	814	c.12C>A	c.(10-12)ttC>ttA	p.F4L	SCN3B_ENST00000530277.1_Missense_Mutation_p.F4L|SCN3B_ENST00000299333.3_Missense_Mutation_p.F4L	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	4					atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F4L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAATCTATTGAAGGCAGGCA	0.517																																					p.F4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12A	11						.						160.0	163.0	162.0					11																	123524498		2202	4299	6501	123029708	SO:0001583	missense	55800	exon1			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.12C>A	11.37:g.123524498G>T	ENSP00000376523:p.Phe4Leu		123029708	NM_018400	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508101	0.44660	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	D;D;D;D;D	0.97710	-3.74;-3.74;-3.74;-4.5;-3.2	4.97	4.97	0.65823	.	0.644653	0.16577	N	0.208372	D	0.91012	0.7173	N	0.03608	-0.345	0.38616	D	0.951018	B	0.02656	0.0	B	0.01281	0.0	D	0.87245	0.2269	10	0.06365	T	0.9	-0.0117	14.1029	0.65068	0.0:0.0:1.0:0.0	.	4	Q9NY72	SCN3B_HUMAN	L	4	ENSP00000376523:F4L;ENSP00000299333:F4L;ENSP00000432785:F4L;ENSP00000435554:F4L;ENSP00000434363:F4L	ENSP00000299333:F4L	F	-	3	2	SCN3B	123029708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.912000	0.48782	2.452000	0.82932	0.591000	0.81541	TTC		0.517	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	
ZNF202	7753	broad.mit.edu	37	11	123601563	123601563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123601563G>T	ENST00000529691.1	-	2	253	c.34C>A	c.(34-36)Ctt>Att	p.L12I	ZNF202_ENST00000530393.1_Missense_Mutation_p.L12I|ZNF202_ENST00000336139.4_Missense_Mutation_p.L12I			O95125	ZN202_HUMAN	zinc finger protein 202	12					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L12I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCCAAAGATCCTGGTCC	0.537																																					p.L12I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C34A	11						.						82.0	86.0	85.0					11																	123601563		2202	4299	6501	123106773	SO:0001583	missense	7753	exon4			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.34C>A	11.37:g.123601563G>T	ENSP00000433881:p.Leu12Ile		123106773	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660252	0.67586	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463;ENST00000528306	T;T;T;T	0.06068	3.35;3.35;3.35;3.38	4.7	4.7	0.59300	.	0.000000	0.44483	D	0.000457	T	0.08891	0.0220	N	0.08118	0	0.34011	D	0.651478	D	0.63880	0.993	D	0.67548	0.952	T	0.44952	-0.9294	10	0.22706	T	0.39	-15.7215	13.0223	0.58796	0.0:0.0:1.0:0.0	.	12	O95125	ZN202_HUMAN	I	12	ENSP00000337724:L12I;ENSP00000432504:L12I;ENSP00000433881:L12I;ENSP00000431223:L12I	ENSP00000337724:L12I	L	-	1	0	ZNF202	123106773	0.953000	0.32496	0.999000	0.59377	0.998000	0.95712	1.900000	0.39828	2.438000	0.82558	0.555000	0.69702	CTT		0.537	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
OR6X1	390260	broad.mit.edu	37	11	123624672	123624672	+	Silent	SNP	G	G	A	rs570526906		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123624672G>A	ENST00000327930.2	-	1	581	c.555C>T	c.(553-555)gcC>gcT	p.A185A		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A185A(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTATGCAGGCGGCTTTCAAAC	0.443																																					p.A185A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	11						.						89.0	91.0	90.0					11																	123624672		2202	4299	6501	123129882	SO:0001819	synonymous_variant	390260	exon1			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.555C>T	11.37:g.123624672G>A			123129882	NM_001005188	B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	CCDS31695.1																																																																																				0.443	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
OR6M1	390261	broad.mit.edu	37	11	123676685	123676685	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123676685A>G	ENST00000309154.2	-	1	410	c.373T>C	c.(373-375)Tgc>Cgc	p.C125R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGTGGGTCGCAGATAGCCATG	0.517																																					p.C125R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T373C	11						.						50.0	51.0	51.0					11																	123676685		2202	4299	6501	123181895	SO:0001583	missense	390261	exon1			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.373T>C	11.37:g.123676685A>G	ENSP00000311038:p.Cys125Arg		123181895	NM_001005325	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553480	0.45487	.	.	ENSG00000196099	ENST00000309154	T	0.06218	3.33	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002874	T	0.30166	0.0756	M	0.92317	3.295	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.20207	-1.0282	10	0.87932	D	0	.	10.3296	0.43814	1.0:0.0:0.0:0.0	.	125	Q8NGM8	OR6M1_HUMAN	R	125	ENSP00000311038:C125R	ENSP00000311038:C125R	C	-	1	0	OR6M1	123181895	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	4.276000	0.58933	1.518000	0.48934	0.533000	0.62120	TGC		0.517	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
TMEM225	338661	broad.mit.edu	37	11	123755265	123755265	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123755265T>G	ENST00000375026.2	-	2	476	c.260A>C	c.(259-261)aAa>aCa	p.K87T		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	87					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K87T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATAGGTGAATTTCATACCCAG	0.418																																					p.K87T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A260C	11						.						120.0	123.0	122.0					11																	123755265		2202	4299	6501	123260475	SO:0001583	missense	338661	exon2			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.260A>C	11.37:g.123755265T>G	ENSP00000364166:p.Lys87Thr		123260475	NM_001013743		Missense_Mutation	SNP	ENST00000375026.2	37	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780341	0.31502	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.69926	-0.44;-0.44	5.17	2.82	0.32997	.	0.466873	0.18539	N	0.138247	T	0.49457	0.1558	N	0.19112	0.55	0.18873	N	0.999983	P	0.39216	0.664	B	0.41723	0.365	T	0.43015	-0.9417	10	0.66056	D	0.02	-6.3863	4.2122	0.10517	0.1774:0.0941:0.0:0.7286	.	87	Q6GV28	TM225_HUMAN	T	87;37	ENSP00000364166:K87T;ENSP00000431282:K37T	ENSP00000364166:K87T	K	-	2	0	TMEM225	123260475	0.559000	0.26562	0.435000	0.26784	0.101000	0.19017	1.021000	0.30040	0.420000	0.25954	0.533000	0.62120	AAA		0.418	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743	
OR4D5	219875	broad.mit.edu	37	11	123811218	123811218	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123811218A>G	ENST00000307033.2	+	1	969	c.895A>G	c.(895-897)Aag>Gag	p.K299E		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K299E(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		CATGGCCATGAAGAAGCTGTG	0.507																																					p.K299E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A895G	11						.						88.0	87.0	87.0					11																	123811218		2202	4299	6501	123316428	SO:0001583	missense	219875	exon1			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.895A>G	11.37:g.123811218A>G	ENSP00000305970:p.Lys299Glu		123316428	NM_001001965	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.862578	0.51482	.	.	ENSG00000171014	ENST00000307033	T	0.42900	0.96	5.29	5.29	0.74685	.	0.176563	0.26867	U	0.022087	T	0.38983	0.1061	L	0.41079	1.255	0.34585	D	0.71485	P	0.39404	0.672	B	0.39904	0.313	T	0.57423	-0.7814	10	0.62326	D	0.03	-9.998	14.8805	0.70528	1.0:0.0:0.0:0.0	.	299	Q8NGN0	OR4D5_HUMAN	E	299	ENSP00000305970:K299E	ENSP00000305970:K299E	K	+	1	0	OR4D5	123316428	0.714000	0.27936	1.000000	0.80357	0.225000	0.24961	1.730000	0.38125	1.994000	0.58287	0.528000	0.53228	AAG		0.507	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
OR10S1	219873	broad.mit.edu	37	11	123848354	123848354	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123848354C>A	ENST00000531945.1	-	1	134	c.45G>T	c.(43-45)gaG>gaT	p.E15D		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E15D(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)		GGTTGGGGTTCTCCGTTGTCA	0.478																																					p.E15D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G45T	11						.						85.0	85.0	85.0					11																	123848354		2202	4299	6501	123353564	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.45G>T	11.37:g.123848354C>A	ENSP00000431914:p.Glu15Asp		123353564	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775503	0.31411	.	.	ENSG00000196248	ENST00000531945	T	0.00457	7.29	4.75	-3.66	0.04489	.	0.353602	0.19897	U	0.103603	T	0.00210	0.0006	N	0.25094	0.71	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43294	-0.9400	10	0.30854	T	0.27	-1.8337	1.9994	0.03463	0.1724:0.3577:0.094:0.3759	.	15	Q8NGN2	O10S1_HUMAN	D	15	ENSP00000431914:E15D	ENSP00000431914:E15D	E	-	3	2	OR10S1	123353564	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.373000	0.02568	-1.021000	0.03350	-0.164000	0.13417	GAG		0.478	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
OR10G8	219869	broad.mit.edu	37	11	123900516	123900516	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123900516A>G	ENST00000431524.1	+	1	220	c.187A>G	c.(187-189)Aac>Gac	p.N63D		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N63D(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CTTCCTCACCAACCTGTCGTT	0.537																																					p.N63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187G	11						.						263.0	209.0	227.0					11																	123900516		2201	4299	6500	123405726	SO:0001583	missense	219869	exon1			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.187A>G	11.37:g.123900516A>G	ENSP00000389072:p.Asn63Asp		123405726	NM_001004464	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176160	0.57692	.	.	ENSG00000234560	ENST00000431524	T	0.12672	2.66	2.95	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.422805	0.19930	N	0.102892	T	0.28863	0.0716	M	0.88031	2.925	0.26731	N	0.970597	P	0.45474	0.859	P	0.53809	0.735	T	0.05750	-1.0866	10	0.54805	T	0.06	.	4.4751	0.11731	0.6221:0.1908:0.0:0.187	.	63	Q8NGN5	O10G8_HUMAN	D	63	ENSP00000389072:N63D	ENSP00000389072:N63D	N	+	1	0	OR10G8	123405726	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	0.862000	0.27899	1.337000	0.45525	0.477000	0.44152	AAC		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464	
VWA5A	4013	broad.mit.edu	37	11	123994469	123994469	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:123994469G>T	ENST00000456829.2	+	10	1373	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H	VWA5A_ENST00000392748.1_Missense_Mutation_p.Q374H|VWA5A_ENST00000392744.4_Missense_Mutation_p.Q390H|VWA5A_ENST00000361352.5_Missense_Mutation_p.Q374H|VWA5A_ENST00000360334.4_Missense_Mutation_p.Q374H|VWA5A_ENST00000449321.1_Missense_Mutation_p.Q374H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	374	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.Q374H(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CACCACTCCAGAACATTTACA	0.512																																					p.Q374H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1122T	11						.						62.0	61.0	61.0					11																	123994469		2201	4298	6499	123499679	SO:0001583	missense	4013	exon9			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1122G>T	11.37:g.123994469G>T	ENSP00000407726:p.Gln374His		123499679	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045582	0.55110	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05	5.64	1.52	0.23074	von Willebrand factor, type A (3);	1.015120	0.07871	N	0.967939	T	0.15392	0.0371	L	0.47716	1.5	0.09310	N	1	P;P	0.49358	0.923;0.923	P;P	0.56343	0.726;0.796	T	0.24476	-1.0159	10	0.41790	T	0.15	-0.5001	5.3667	0.16117	0.233:0.0:0.6098:0.1571	.	390;374	B4DHS6;O00534	.;VMA5A_HUMAN	H	374;374;374;374;374;390	ENSP00000407726:Q374H;ENSP00000353485:Q374H;ENSP00000376504:Q374H;ENSP00000355070:Q374H;ENSP00000404683:Q374H;ENSP00000376501:Q390H	ENSP00000353485:Q374H	Q	+	3	2	VWA5A	123499679	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	0.443000	0.21644	0.023000	0.15187	0.644000	0.83932	CAG		0.512	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
VWA5A	4013	broad.mit.edu	37	11	124006949	124006949	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124006949C>A	ENST00000456829.2	+	13	1724	c.1473C>A	c.(1471-1473)atC>atA	p.I491I	VWA5A_ENST00000392748.1_Silent_p.I491I|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	491								p.I491I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493																																					p.I491I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473A	11						.						115.0	106.0	109.0					11																	124006949		2201	4299	6500	123512159	SO:0001819	synonymous_variant	4013	exon12			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1473C>A	11.37:g.124006949C>A			123512159	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.493	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
VWA5A	4013	broad.mit.edu	37	11	124016640	124016640	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124016640C>A	ENST00000456829.2	+	19	2600	c.2349C>A	c.(2347-2349)atC>atA	p.I783I	VWA5A_ENST00000392748.1_Silent_p.I783I|VWA5A_ENST00000360334.4_3'UTR	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	783								p.I783I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATCCTGCTATCTTTGCCTTTT	0.418																																					p.I783I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2349A	11						.						138.0	113.0	122.0					11																	124016640		2200	4296	6496	123521850	SO:0001819	synonymous_variant	4013	exon18			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2349C>A	11.37:g.124016640C>A			123521850	NM_014622	Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	ENST00000456829.2	37	CCDS8444.1																																																																																				0.418	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
OR8G1	26494	broad.mit.edu	37	11	124120549	124120549	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124120549C>A	ENST00000534473.2	+	0	127				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GGTGGGCAACCTGGGCATGAC	0.522																																					p.L43M												.	.	0			c.C127A	11						.						141.0	141.0	141.0					11																	124120549		2191	4298	6489	123625759			0	exon1			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"""GPCR / Class A : Olfactory receptors"""	8484	protein-coding gene	gene with protein product			"""olfactory receptor, family 8, subfamily G, member 1 pseudogene"""	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120549C>A			123625759	NM_001002905	Q8NG88	IGR	SNP	ENST00000534473.2	37																																																																																					0.522	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387282.2	NM_001002905	
OR8G5	219865	broad.mit.edu	37	11	124135246	124135246	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124135246C>T	ENST00000524943.2	+	1	524	c.524C>T	c.(523-525)gCt>gTt	p.A175V	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|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;0.0523)		TCCAATAAGGCTTGCTTTTCT	0.433																																					p.A175V	Ovarian(169;523 1969 8640 31295 51256)											.	.	0			c.C524T	11						.						236.0	230.0	232.0					11																	124135246		2050	4206	6256	123640456	SO:0001583	missense	0	exon1			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.524C>T	11.37:g.124135246C>T	ENSP00000477014:p.Ala175Val		123640456	NM_001005198	B2RND3|Q6IEU6	IGR	SNP	ENST00000524943.2	37																																																																																					0.433	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198	
OR8G5	219865	broad.mit.edu	37	11	124135317	124135317	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124135317T>C	ENST00000524943.2	+	1	595	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|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;0.0523)		AGGCTGTATGTTTAGGGTTCA	0.363																																					p.F199L	Ovarian(169;523 1969 8640 31295 51256)											.	.	0			c.T595C	11						.						278.0	264.0	269.0					11																	124135317		1897	4151	6048	123640527	SO:0001583	missense	0	exon1			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"""GPCR / Class A : Olfactory receptors"""	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.595T>C	11.37:g.124135317T>C	ENSP00000477014:p.Phe199Leu		123640527	NM_001005198	B2RND3|Q6IEU6	IGR	SNP	ENST00000524943.2	37																																																																																					0.363	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	NM_001005198	
OR8B3	390271	broad.mit.edu	37	11	124266631	124266631	+	Missense_Mutation	SNP	T	T	G	rs374508700		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124266631T>G	ENST00000354597.3	-	1	633	c.617A>C	c.(616-618)aAt>aCt	p.N206T		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N206T(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TACCATGATATTAATACCCAC	0.418																																					p.N206T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A617C	11						.						157.0	163.0	161.0					11																	124266631		2201	4299	6500	123771841	SO:0001583	missense	390271	exon1			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.617A>C	11.37:g.124266631T>G	ENSP00000346611:p.Asn206Thr		123771841	NM_001005467	Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	6.519	0.463978	0.12402	.	.	ENSG00000196661	ENST00000354597	T	0.00076	8.76	3.62	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.00241	0.0007	L	0.46567	1.45	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.50466	-0.8825	10	0.59425	D	0.04	.	0.477	0.00541	0.1758:0.2036:0.1825:0.4381	.	206	Q8NGG8	OR8B3_HUMAN	T	206	ENSP00000346611:N206T	ENSP00000346611:N206T	N	-	2	0	OR8B3	123771841	0.000000	0.05858	0.602000	0.28890	0.028000	0.11728	-0.296000	0.08287	0.759000	0.33084	0.454000	0.30748	AAT		0.418	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467	
OR8B8	26493	broad.mit.edu	37	11	124310880	124310880	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124310880G>T	ENST00000328064.2	-	1	174	c.102C>A	c.(100-102)ttC>ttA	p.F34L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	34					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F34L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGACCACGTAGAAGCCTAGAA	0.507																																					p.F34L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C102A	11						.						79.0	79.0	79.0					11																	124310880		2201	4299	6500	123816090	SO:0001583	missense	26493	exon1			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.102C>A	11.37:g.124310880G>T	ENSP00000330280:p.Phe34Leu		123816090	NM_012378	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279724	0.23392	.	.	ENSG00000197125	ENST00000328064	T	0.00625	6.14	3.73	1.74	0.24563	.	0.831471	0.10292	N	0.692187	T	0.00384	0.0012	N	0.02103	-0.685	0.24195	N	0.995533	B	0.19073	0.033	B	0.21151	0.033	T	0.47368	-0.9123	10	0.87932	D	0	.	3.7861	0.08702	0.3129:0.0:0.5162:0.1708	.	34	Q15620	OR8B8_HUMAN	L	34	ENSP00000330280:F34L	ENSP00000330280:F34L	F	-	3	2	OR8B8	123816090	0.029000	0.19370	0.088000	0.20740	0.643000	0.38383	-0.252000	0.08806	0.483000	0.27608	0.557000	0.71058	TTC		0.507	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
SIAE	54414	broad.mit.edu	37	11	124508521	124508521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124508521C>A	ENST00000263593.3	-	9	1409	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	SIAE_ENST00000545756.1_Nonsense_Mutation_p.E378*|RNA5SP352_ENST00000363408.1_RNA			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	413					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.E413*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCCAAGAGTTCTATCTTCTCA	0.468																																					p.E413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1237T	11						.						133.0	117.0	123.0					11																	124508521		2201	4299	6500	124013731	SO:0001587	stop_gained	54414	exon9			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.1237G>T	11.37:g.124508521C>A	ENSP00000263593:p.Glu413*		124013731	NM_170601	B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Nonsense_Mutation	SNP	ENST00000263593.3	37	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.613441	0.96637	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	.	.	.	5.44	4.51	0.55191	.	0.472295	0.22152	N	0.063911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-13.5951	14.8376	0.70194	0.0:0.8549:0.1451:0.0	.	.	.	.	X	413;378	.	ENSP00000263593:E413X	E	-	1	0	SIAE	124013731	0.045000	0.20229	0.290000	0.24890	0.448000	0.32197	1.162000	0.31786	1.250000	0.43966	0.655000	0.94253	GAA		0.468	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601	
VSIG2	23584	broad.mit.edu	37	11	124620809	124620809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124620809G>T	ENST00000326621.5	-	3	328	c.228C>A	c.(226-228)taC>taA	p.Y76*	VSIG2_ENST00000403470.1_Nonsense_Mutation_p.Y76*	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	76	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.Y76*(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CATTGGTGAAGTACAGGATCT	0.527																																					p.Y76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C228A	11						.						71.0	63.0	66.0					11																	124620809		2201	4299	6500	124126019	SO:0001587	stop_gained	23584	exon3			AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.228C>A	11.37:g.124620809G>T	ENSP00000318684:p.Tyr76*		124126019	NM_014312	O95791|Q9NX42	Nonsense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783107	0.90282	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	.	.	.	5.28	2.23	0.28157	.	0.214441	0.32161	N	0.006488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3558	0.32329	0.2801:0.0:0.7199:0.0	.	.	.	.	X	76	.	ENSP00000318684:Y76X	Y	-	3	2	VSIG2	124126019	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.431000	0.34925	0.810000	0.34279	0.655000	0.94253	TAC		0.527	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312	
ROBO3	64221	broad.mit.edu	37	11	124742277	124742277	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124742277G>A	ENST00000397801.1	+	8	1351	c.1159G>A	c.(1159-1161)Gtc>Atc	p.V387I	ROBO3_ENST00000538940.1_Splice_Site_p.V365I	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	387	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.V387I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGTCCCCAGGTCCTGCTTTT	0.567																																					p.V387I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1159A	11						.						69.0	70.0	69.0					11																	124742277		1979	4154	6133	124247487	SO:0001630	splice_region_variant	64221	exon8			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1159-1G>A	11.37:g.124742277G>A			124247487	NM_022370		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472527	0.43942	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.65364	-0.15;-0.15	5.7	4.69	0.59074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200534	0.24597	N	0.037176	T	0.33731	0.0873	N	0.05414	-0.055	0.80722	D	1	B	0.15473	0.013	B	0.09377	0.004	T	0.29579	-1.0007	9	.	.	.	.	4.0117	0.09626	0.3219:0.0:0.6781:0.0	.	387	Q96MS0	ROBO3_HUMAN	I	387;365	ENSP00000380903:V387I;ENSP00000441797:V365I	.	V	+	1	0	ROBO3	124247487	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	5.302000	0.65733	2.695000	0.91970	0.655000	0.94253	GTC		0.567	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	Missense_Mutation
ROBO3	64221	broad.mit.edu	37	11	124745200	124745200	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124745200G>A	ENST00000397801.1	+	14	2459	c.2267G>A	c.(2266-2268)aGc>aAc	p.S756N	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.S734N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	756	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.S756N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGGGCTGAAAGCCTCTCTGTG	0.607																																					p.S756N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2267A	11						.						70.0	71.0	70.0					11																	124745200		1932	4149	6081	124250410	SO:0001583	missense	64221	exon14			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2267G>A	11.37:g.124745200G>A	ENSP00000380903:p.Ser756Asn		124250410	NM_022370		Missense_Mutation	SNP	ENST00000397801.1	37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356244	0.61293	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.71103	-0.54;-0.54	5.47	5.47	0.80525	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000380	D	0.82820	0.5120	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84426	0.0574	10	0.87932	D	0	.	16.0553	0.80798	0.0:0.0:1.0:0.0	.	756	Q96MS0	ROBO3_HUMAN	N	756;734	ENSP00000380903:S756N;ENSP00000441797:S734N	ENSP00000380903:S756N	S	+	2	0	ROBO3	124250410	1.000000	0.71417	0.970000	0.41538	0.039000	0.13416	7.772000	0.85439	2.559000	0.86315	0.650000	0.86243	AGC		0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663	
ROBO4	54538	broad.mit.edu	37	11	124764191	124764191	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124764191G>A	ENST00000306534.3	-	8	1709	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.I263I	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	408	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I408I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TATGGGTGGCGATTTCCAGCT	0.592																																					p.I408I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1224T	11						.						123.0	94.0	104.0					11																	124764191		2201	4299	6500	124269401	SO:0001819	synonymous_variant	54538	exon8			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1224C>T	11.37:g.124764191G>A			124269401	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																				0.592	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
SLC37A2	219855	broad.mit.edu	37	11	124953755	124953755	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:124953755G>A	ENST00000403796.2	+	11	1322	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	SLC37A2_ENST00000298280.5_Missense_Mutation_p.D341N|SLC37A2_ENST00000308074.4_Missense_Mutation_p.D341N|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000407458.1_Missense_Mutation_p.D341N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	341					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.D341N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TACACTCTTCGATGTTGGTGG	0.562																																					p.D341N	Melanoma(11;373 620 21213 26083 47768)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021A	11						.						147.0	112.0	124.0					11																	124953755		2201	4299	6500	124458965	SO:0001583	missense	219855	exon11			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1021G>A	11.37:g.124953755G>A	ENSP00000384407:p.Asp341Asn		124458965	NM_001145290	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831891	0.71258	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000308074	T;T;T;T	0.57436	0.4;0.4;0.44;0.4	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82506	-0.0423	10	0.87932	D	0	-23.194	18.0204	0.89253	0.0:0.0:1.0:0.0	.	341;341	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	N	341	ENSP00000384407:D341N;ENSP00000385126:D341N;ENSP00000298280:D341N;ENSP00000311833:D341N	ENSP00000298280:D341N	D	+	1	0	SLC37A2	124458965	1.000000	0.71417	0.943000	0.38184	0.194000	0.23727	9.214000	0.95140	2.583000	0.87209	0.655000	0.94253	GAT		0.562	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184	
PKNOX2	63876	broad.mit.edu	37	11	125281716	125281716	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125281716G>A	ENST00000298282.9	+	10	1162	c.891G>A	c.(889-891)aaG>aaA	p.K297K	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.K233K	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	297					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.K297K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TCTTGCCCAAGCATGCCACCA	0.507																																					p.K297K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G891A	11						.						144.0	142.0	143.0					11																	125281716		2069	4226	6295	124786926	SO:0001819	synonymous_variant	63876	exon10			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.891G>A	11.37:g.125281716G>A			124786926	NM_022062	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	CCDS41730.1																																																																																				0.507	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3		
PKNOX2	63876	broad.mit.edu	37	11	125301174	125301174	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125301174G>T	ENST00000298282.9	+	13	1576	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.E371D	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	435	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.E435D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAgaagaagaggatgaggatg	0.567																																					p.E435D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1305T	11						.						48.0	53.0	51.0					11																	125301174		2165	4274	6439	124806384	SO:0001583	missense	63876	exon13			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1305G>T	11.37:g.125301174G>T	ENSP00000298282:p.Glu435Asp		124806384	NM_022062	B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521381	0.44866	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.93	4.56	2.68	0.31781	.	0.290613	0.31134	N	0.008192	T	0.77294	0.4109	N	0.02247	-0.625	0.51767	D	0.999937	D;D;D	0.61697	0.99;0.984;0.984	D;D;D	0.70935	0.971;0.935;0.935	T	0.71609	-0.4541	10	0.15499	T	0.54	-16.6369	10.3701	0.44049	0.1614:0.0:0.8386:0.0	.	371;406;435	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	D	406;406;435;371	ENSP00000434732:E406D;ENSP00000433971:E406D;ENSP00000298282:E435D;ENSP00000441470:E371D	ENSP00000298282:E435D	E	+	3	2	PKNOX2	124806384	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.465000	0.35299	0.649000	0.30751	0.655000	0.94253	GAG		0.567	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3		
FEZ1	9638	broad.mit.edu	37	11	125359541	125359541	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125359541C>T	ENST00000278919.3	-	2	367	c.133G>A	c.(133-135)Gag>Aag	p.E45K	FEZ1_ENST00000524435.1_Missense_Mutation_p.E45K|FEZ1_ENST00000366139.3_Missense_Mutation_p.E45K	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	45					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.E45K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCAAGCTCGGAGAGGGAG	0.502																																					p.E45K	Melanoma(180;509 2033 10762 15939 24711)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	11						.						62.0	69.0	67.0					11																	125359541		2201	4299	6500	124864751	SO:0001583	missense	9638	exon2			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.133G>A	11.37:g.125359541C>T	ENSP00000278919:p.Glu45Lys		124864751	NM_022549	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	36	5.796840	0.96952	.	.	ENSG00000149557	ENST00000278919;ENST00000529053;ENST00000366139;ENST00000524435;ENST00000527534	T	0.32272	1.46	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.98	T	0.08848	-1.0702	10	0.17369	T	0.5	-14.48	19.5568	0.95354	0.0:1.0:0.0:0.0	.	45;45	B4DKG5;Q99689	.;FEZ1_HUMAN	K	45	ENSP00000278919:E45K	ENSP00000278919:E45K	E	-	1	0	FEZ1	124864751	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.670000	0.83925	2.722000	0.93159	0.650000	0.86243	GAG		0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
EI24	9538	broad.mit.edu	37	11	125448072	125448072	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125448072C>A	ENST00000278903.6	+	6	602	c.360C>A	c.(358-360)ttC>ttA	p.F120L	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.F120L	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	120					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F120L(2)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GGCTGGAATTCTTCCTCACGT	0.453																																					p.F120L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C360A	11						.						204.0	186.0	192.0					11																	125448072		1918	4151	6069	124953282	SO:0001583	missense	9538	exon6			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.360C>A	11.37:g.125448072C>A	ENSP00000278903:p.Phe120Leu		124953282	NM_004879	A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37		.	.	.	.	.	.	.	.	.	.	C	12.66	2.003675	0.35320	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842;ENST00000527131	.	.	.	5.83	2.5	0.30297	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.39633	1.23	0.58432	D	0.999993	D;D;D;D	0.69078	0.997;0.997;0.979;0.997	D;D;D;D	0.77004	0.989;0.989;0.982;0.989	T	0.55289	-0.8164	9	0.11485	T	0.65	-8.3033	10.8227	0.46614	0.0:0.7108:0.0:0.2892	.	106;120;120;120	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	120;120;163;120;120	.	ENSP00000278903:F120L	F	+	3	2	EI24	124953282	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.706000	0.25690	0.813000	0.34350	0.655000	0.94253	TTC		0.453	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879	
PATE2	399967	broad.mit.edu	37	11	125647896	125647896	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125647896C>T	ENST00000358524.3	-	3	123	c.78G>A	c.(76-78)gcG>gcA	p.A26A	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	26						extracellular space (GO:0005615)		p.A26A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						TTATTTCAGTCGCTGCCAGAT	0.438																																					p.A26A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G78A	11						.						99.0	91.0	94.0					11																	125647896		2201	4299	6500	125153106	SO:0001630	splice_region_variant	399967	exon3			AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.77-1G>A	11.37:g.125647896C>T			125153106	NM_212555	B2RNZ2|B7ZMG4	Silent	SNP	ENST00000358524.3	37	CCDS8465.1																																																																																				0.438	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	Silent
PUS3	83480	broad.mit.edu	37	11	125765145	125765145	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125765145C>A	ENST00000530811.1	-	2	963	c.918G>T	c.(916-918)gaG>gaT	p.E306D	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E306D|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	306					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E306D(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGGGATTTTTCTCTATATTCA	0.408																																					p.E306D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G918T	11						.						77.0	82.0	80.0					11																	125765145		2201	4299	6500	125270355	SO:0001583	missense	83480	exon3			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.918G>T	11.37:g.125765145C>A	ENSP00000432386:p.Glu306Asp		125270355	NM_031307	B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452062	0.43531	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.19250	2.16;2.16	5.73	1.67	0.24075	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.320500	0.36482	N	0.002568	T	0.22205	0.0535	L	0.52905	1.665	0.41015	D	0.98503	B	0.24483	0.104	B	0.37731	0.257	T	0.05354	-1.0890	10	0.38643	T	0.18	-5.1744	6.039	0.19724	0.0:0.6041:0.1308:0.2651	.	306	Q9BZE2	PUS3_HUMAN	D	306	ENSP00000227474:E306D;ENSP00000432386:E306D	ENSP00000227474:E306D	E	-	3	2	PUS3	125270355	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	0.521000	0.22893	0.727000	0.32360	0.591000	0.81541	GAG		0.408	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307	
HYLS1	219844	broad.mit.edu	37	11	125769968	125769968	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125769968G>T	ENST00000425380.2	+	3	1486	c.705G>T	c.(703-705)aaG>aaT	p.K235N	HYLS1_ENST00000526028.1_Missense_Mutation_p.K235N|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000356438.3_Missense_Mutation_p.K235N	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	235						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K235N(1)		breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		ATCATAGAAAGGAATTACGCT	0.478																																					p.K235N	Esophageal Squamous(172;2590 2636 8884 10471)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705T	11						.						81.0	74.0	76.0					11																	125769968		2201	4299	6500	125275178	SO:0001583	missense	219844	exon4			AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.705G>T	11.37:g.125769968G>T	ENSP00000414884:p.Lys235Asn		125275178	NM_145014	B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948111	0.53186	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.77877	-1.13;-1.13;-1.13	6.02	2.73	0.32206	.	0.149329	0.43416	D	0.000561	T	0.82204	0.4986	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.81728	-0.0800	10	0.52906	T	0.07	.	11.7312	0.51737	0.2703:0.0:0.7297:0.0	.	235	Q96M11	HYLS1_HUMAN	N	235	ENSP00000348815:K235N;ENSP00000414884:K235N;ENSP00000436833:K235N	ENSP00000348815:K235N	K	+	3	2	HYLS1	125275178	0.999000	0.42202	1.000000	0.80357	0.821000	0.46438	0.317000	0.19487	0.884000	0.36064	-0.140000	0.14226	AAG		0.478	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014	
DDX25	29118	broad.mit.edu	37	11	125786921	125786921	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125786921C>T	ENST00000263576.6	+	9	968	c.813C>T	c.(811-813)tcC>tcT	p.S271S	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	271	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.S157S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CTCTACCCTCCGAATGCCAAA	0.507																																					p.S271S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	11						.						83.0	84.0	84.0					11																	125786921		2080	4224	6304	125292131	SO:0001819	synonymous_variant	29118	exon9			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.813C>T	11.37:g.125786921C>T			125292131	NM_013264	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	CCDS44766.1																																																																																				0.507	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264	
CDON	50937	broad.mit.edu	37	11	125864237	125864237	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:125864237G>T	ENST00000392693.3	-	14	2719	c.2592C>A	c.(2590-2592)atC>atA	p.I864I	CDON_ENST00000531738.1_Silent_p.I241I|CDON_ENST00000263577.7_Silent_p.I864I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I864I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCGGTAATAGATATAAAATC	0.388																																					p.I864I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2592A	11						.						116.0	106.0	110.0					11																	125864237		2201	4299	6500	125369447	SO:0001819	synonymous_variant	50937	exon14			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2592C>A	11.37:g.125864237G>T			125369447	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.388	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
FAM118B	79607	broad.mit.edu	37	11	126104960	126104960	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:126104960G>A	ENST00000533050.1	+	3	557	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	FAM118B_ENST00000360194.4_Missense_Mutation_p.E22K|FAM118B_ENST00000529731.1_Missense_Mutation_p.E22K|FAM118B_ENST00000525728.1_Intron	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	22								p.E22K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CAACGATGGCGAACCTCCCAC	0.413																																					p.E22K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64A	11						.						76.0	81.0	79.0					11																	126104960		2201	4299	6500	125610170	SO:0001583	missense	79607	exon3			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.64G>A	11.37:g.126104960G>A	ENSP00000433343:p.Glu22Lys		125610170	NM_024556	Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296043	0.23650	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.42513	1.56;1.56;0.97;1.56;0.98;0.97	6.17	4.31	0.51392	.	0.481200	0.24158	N	0.041005	T	0.18045	0.0433	N	0.08118	0	0.22803	N	0.998715	B;B;B	0.17852	0.024;0.014;0.014	B;B;B	0.12156	0.007;0.003;0.004	T	0.21759	-1.0236	10	0.12103	T	0.63	-10.7204	4.7513	0.13063	0.2217:0.0:0.62:0.1583	.	22;22;22	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	K	22	ENSP00000433343:E22K;ENSP00000434952:E22K;ENSP00000432712:E22K;ENSP00000353321:E22K;ENSP00000437285:E22K;ENSP00000435754:E22K	ENSP00000353321:E22K	E	+	1	0	FAM118B	125610170	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.335000	0.43929	0.932000	0.37266	0.655000	0.94253	GAA		0.413	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556	
FAM118B	79607	broad.mit.edu	37	11	126126690	126126690	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:126126690G>A	ENST00000533050.1	+	7	1418	c.925G>A	c.(925-927)Gat>Aat	p.D309N	FAM118B_ENST00000360194.4_Missense_Mutation_p.D309N|FAM118B_ENST00000529731.1_Missense_Mutation_p.D233N	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	309								p.D309N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGACTATGCCGATCTTCCAGA	0.453																																					p.D309N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925A	11						.						166.0	173.0	171.0					11																	126126690		2201	4299	6500	125631900	SO:0001583	missense	79607	exon7			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.925G>A	11.37:g.126126690G>A	ENSP00000433343:p.Asp309Asn		125631900	NM_024556	Q9H7B0	Missense_Mutation	SNP	ENST00000533050.1	37	CCDS8470.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863536	0.71949	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000525338	T;T;T;T;T	0.48836	1.58;1.58;1.58;1.58;0.8	5.04	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	N	0.19112	0.55	0.54753	D	0.999984	P;D;D	0.76494	0.516;0.999;0.998	B;D;D	0.72625	0.064;0.978;0.909	T	0.50825	-0.8782	10	0.36615	T	0.2	-25.2598	13.5572	0.61765	0.0748:0.0:0.9252:0.0	.	233;309;309	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	N	309;309;233;309;233	ENSP00000433343:D309N;ENSP00000434952:D309N;ENSP00000432712:D233N;ENSP00000353321:D309N;ENSP00000435754:D233N	ENSP00000353321:D309N	D	+	1	0	FAM118B	125631900	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.433000	0.80362	1.343000	0.45638	0.591000	0.81541	GAT		0.453	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556	
ETS1	2113	broad.mit.edu	37	11	128391833	128391833	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:128391833G>T	ENST00000319397.6	-	1	366	c.57C>A	c.(55-57)gtC>gtA	p.V19V	ETS1_ENST00000535549.1_Silent_p.V19V|ETS1_ENST00000531611.1_Silent_p.V19V|ETS1_ENST00000345075.4_Silent_p.V19V|ETS1_ENST00000392668.4_Intron|ETS1_ENST00000526145.2_Silent_p.V19V	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	19					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V19V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCTCCAGATCGACTTTTTCCG	0.632																																					p.V19V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C57A	11						.						54.0	56.0	55.0					11																	128391833		2201	4297	6498	127897043	SO:0001819	synonymous_variant	2113	exon1				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.57C>A	11.37:g.128391833G>T			127897043	NM_005238	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Intron	SNP	ENST00000319397.6	37	CCDS8475.1																																																																																				0.632	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
FLI1	2313	broad.mit.edu	37	11	128680588	128680588	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:128680588G>T	ENST00000527786.2	+	9	1553	c.1064G>T	c.(1063-1065)aGa>aTa	p.R355I	FLI1_ENST00000534087.2_Missense_Mutation_p.R322I|FLI1_ENST00000344954.6_Missense_Mutation_p.R322I|FLI1_ENST00000525560.1_Missense_Mutation_p.R162I|FLI1_ENST00000281428.8_Missense_Mutation_p.R289I	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	355					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R355I(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CACGGCAAAAGATATGCTTAC	0.488			T	EWSR1	Ewing sarcoma																																p.R322I			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965T	11						.						64.0	71.0	69.0					11																	128680588		2183	4289	6472	128185798	SO:0001583	missense	2313	exon9			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1064G>T	11.37:g.128680588G>T	ENSP00000433488:p.Arg355Ile		128185798	NM_001167681	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238786	0.79800	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.23	5.23	0.72850	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.76793	-0.2828	10	0.87932	D	0	.	18.9989	0.92824	0.0:0.0:1.0:0.0	.	355;162;289	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	I	162;322;355;322;289	ENSP00000437124:R162I;ENSP00000339627:R322I;ENSP00000399985:R355I;ENSP00000432950:R322I;ENSP00000281428:R289I	ENSP00000281428:R289I	R	+	2	0	FLI1	128185798	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.595000	0.98260	2.719000	0.93026	0.650000	0.86243	AGA		0.488	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
ARHGAP32	9743	broad.mit.edu	37	11	128842602	128842602	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:128842602C>T	ENST00000310343.9	-	21	3756	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E904K|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E904K|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1253					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E1253K(2)|p.E904K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTATTCTCTTCGGGGGACCCA	0.483																																					p.E904K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2710A	11						.						101.0	105.0	104.0					11																	128842602		2201	4297	6498	128347812	SO:0001583	missense	9743	exon12			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3757G>A	11.37:g.128842602C>T	ENSP00000310561:p.Glu1253Lys		128347812	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060806	0.76074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09163	3.02;3.01;3.01	5.71	5.71	0.89125	.	0.308092	0.28077	N	0.016682	T	0.12689	0.0308	M	0.63428	1.95	0.35537	D	0.80273	P	0.48640	0.913	B	0.34038	0.174	T	0.23940	-1.0174	10	0.36615	T	0.2	.	18.0404	0.89317	0.0:1.0:0.0:0.0	.	1253	A7KAX9	RHG32_HUMAN	K	1253;904;904	ENSP00000310561:E1253K;ENSP00000376425:E904K;ENSP00000432862:E904K	ENSP00000310561:E1253K	E	-	1	0	ARHGAP32	128347812	0.990000	0.36364	0.996000	0.52242	0.991000	0.79684	3.103000	0.50298	2.710000	0.92621	0.655000	0.94253	GAA		0.483	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
ARHGAP32	9743	broad.mit.edu	37	11	128844371	128844371	+	Silent	SNP	C	C	T	rs537107666		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:128844371C>T	ENST00000310343.9	-	20	2678	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	ARHGAP32_ENST00000527272.1_Silent_p.P544P|ARHGAP32_ENST00000392657.3_Silent_p.P544P|ARHGAP32_ENST00000524655.1_Silent_p.P819P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	893					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.P893P(1)|p.P544P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTCCTATCTTCGGAGAGAAAG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		23392	0.0		0.0	False		,,,				2504	0.001				p.P544P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1632A	11						.						176.0	160.0	165.0					11																	128844371		2201	4297	6498	128349581	SO:0001819	synonymous_variant	9743	exon11			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2679G>A	11.37:g.128844371C>T			128349581	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	CCDS44769.1																																																																																				0.438	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
TMEM45B	120224	broad.mit.edu	37	11	129722522	129722522	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:129722522G>A	ENST00000524567.1	+	2	426	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TMEM45B_ENST00000281441.3_Missense_Mutation_p.E49K			Q96B21	TM45B_HUMAN	transmembrane protein 45B	49						integral component of membrane (GO:0016021)		p.E49K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CGAGATCGTCGAAGCCGCAAT	0.473																																					p.E49K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145A	11						.						133.0	125.0	127.0					11																	129722522		2201	4297	6498	129227732	SO:0001583	missense	120224	exon2			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.145G>A	11.37:g.129722522G>A	ENSP00000436293:p.Glu49Lys		129227732	NM_138788	A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283590	0.80803	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.38560	1.13;1.13	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	M	0.90145	3.09	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.76468	-0.2948	10	0.87932	D	0	-2.7805	18.2812	0.90098	0.0:0.0:1.0:0.0	.	49	Q96B21	TM45B_HUMAN	K	49	ENSP00000281441:E49K;ENSP00000436293:E49K	ENSP00000281441:E49K	E	+	1	0	TMEM45B	129227732	1.000000	0.71417	0.930000	0.37139	0.035000	0.12851	8.834000	0.92094	2.653000	0.90120	0.655000	0.94253	GAA		0.473	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788	
PRDM10	56980	broad.mit.edu	37	11	129772231	129772231	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:129772231C>T	ENST00000360871.3	-	21	3679	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	PRDM10_ENST00000358825.5_Missense_Mutation_p.E1154K|PRDM10_ENST00000304538.6_Missense_Mutation_p.E1017K|PRDM10_ENST00000528746.1_Missense_Mutation_p.E1111K|PRDM10_ENST00000526082.1_Missense_Mutation_p.E1068K|PRDM10_ENST00000423662.2_Missense_Mutation_p.E1055K	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E1150K(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATATGCACTTCGCTGCTTCCG	0.542																																					p.E1154K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3460A	11						.						329.0	288.0	302.0					11																	129772231		2201	4297	6498	129277441	SO:0001583	missense	56980	exon22			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3448G>A	11.37:g.129772231C>T	ENSP00000354118:p.Glu1150Lys		129277441	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087018	0.94100	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	T;T;T;T;T;T	0.18960	2.48;2.18;2.48;2.49;2.56;2.47	5.66	5.66	0.87406	.	0.052499	0.85682	D	0.000000	T	0.23727	0.0574	L	0.32530	0.975	0.80722	D	1	P;P;P;D;P;P	0.56035	0.956;0.935;0.893;0.974;0.935;0.935	B;B;B;P;B;B	0.44696	0.27;0.364;0.2;0.458;0.364;0.364	T	0.01121	-1.1445	10	0.87932	D	0	-19.895	19.3454	0.94361	0.0:1.0:0.0:0.0	.	1064;1150;1141;1068;1017;1055	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	K	1154;1017;1150;1055;1111;1068	ENSP00000351686:E1154K;ENSP00000302669:E1017K;ENSP00000354118:E1150K;ENSP00000398431:E1055K;ENSP00000431262:E1111K;ENSP00000432237:E1068K	ENSP00000302669:E1017K	E	-	1	0	PRDM10	129277441	1.000000	0.71417	0.947000	0.38551	0.850000	0.48378	7.128000	0.77217	2.689000	0.91719	0.591000	0.81541	GAA		0.542	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
PRDM10	56980	broad.mit.edu	37	11	129784892	129784892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:129784892G>A	ENST00000360871.3	-	17	2779	c.2548C>T	c.(2548-2550)Cga>Tga	p.R850*	PRDM10_ENST00000358825.5_Nonsense_Mutation_p.R854*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R764*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R824*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R768*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R768*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	854					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R850*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCTTCTTTCGAATGTGCTGG	0.433																																					p.R854X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2560T	11						.						101.0	101.0	101.0					11																	129784892		2201	4297	6498	129290102	SO:0001587	stop_gained	56980	exon18			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2548C>T	11.37:g.129784892G>A	ENSP00000354118:p.Arg850*		129290102	NM_020228	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	39	7.803198	0.98498	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	5.76	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8327	17.516	0.87773	0.0:0.0:0.8677:0.1323	.	.	.	.	X	854;764;850;768;824;768;567	.	ENSP00000302669:R764X	R	-	1	2	PRDM10	129290102	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.661000	0.61518	2.718000	0.92993	0.655000	0.94253	CGA		0.433	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	
ST14	6768	broad.mit.edu	37	11	130078361	130078361	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130078361G>A	ENST00000278742.5	+	17	2469	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	684	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R684H(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGAGCCAGCGCAGCGCCCCT	0.632																																					p.R684H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2051A	11						.						57.0	56.0	56.0					11																	130078361		2201	4297	6498	129583571	SO:0001583	missense	6768	exon17			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2051G>A	11.37:g.130078361G>A	ENSP00000278742:p.Arg684His		129583571	NM_021978	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429018	0.62844	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.88818	-2.43	5.4	4.46	0.54185	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.38663	N	0.001620	D	0.88381	0.6421	L	0.42529	1.33	0.40323	D	0.978843	D	0.76494	0.999	P	0.51974	0.686	D	0.87949	0.2722	10	0.44086	T	0.13	.	12.7428	0.57264	0.0:0.0:0.701:0.299	.	684	Q9Y5Y6	ST14_HUMAN	H	684;586	ENSP00000278742:R684H	ENSP00000278742:R684H	R	+	2	0	ST14	129583571	0.179000	0.23135	0.998000	0.56505	0.648000	0.38561	0.784000	0.26816	1.237000	0.43756	0.313000	0.20887	CGC		0.632	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
ZBTB44	29068	broad.mit.edu	37	11	130130756	130130756	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130130756G>T	ENST00000357899.4	-	2	1285	c.1013C>A	c.(1012-1014)tCt>tAt	p.S338Y	ZBTB44_ENST00000397753.1_Missense_Mutation_p.S338Y|ZBTB44_ENST00000530205.1_Missense_Mutation_p.S338Y|ZBTB44_ENST00000525842.1_Missense_Mutation_p.S338Y			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	338					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.S338Y(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATACCTATAGAGGAAGACTG	0.408																																					p.S338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013A	11						.						85.0	79.0	81.0					11																	130130756		1881	4106	5987	129635966	SO:0001583	missense	29068	exon2			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1013C>A	11.37:g.130130756G>T	ENSP00000350574:p.Ser338Tyr		129635966	NM_014155	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.02|19.02	3.745368|3.745368	0.69418|0.69418	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205	.|T;T;T;T;T	.|0.15256	.|2.44;2.77;2.5;2.77;2.44	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.049920	.|0.85682	.|D	.|0.000000	T|T	0.32041|0.32041	0.0816|0.0816	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.69078	.|0.997;0.997;0.995;0.997	.|D;D;D;D	.|0.80764	.|0.994;0.994;0.979;0.994	T|T	0.05886|0.05886	-1.0858|-1.0858	5|10	.|0.62326	.|D	.|0.03	.|.	19.3282|19.3282	0.94273|0.94273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|338;338;338;338	.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.;.;ZBT44_HUMAN;.	I|Y	192|338	.|ENSP00000433457:S338Y;ENSP00000380861:S338Y;ENSP00000408079:S338Y;ENSP00000350574:S338Y;ENSP00000434177:S338Y	.|ENSP00000350574:S338Y	L|S	-|-	1|2	2|0	ZBTB44|ZBTB44	129635966|129635966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.434000|9.434000	0.97515|0.97515	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CTA|TCT		0.408	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
ZBTB44	29068	broad.mit.edu	37	11	130131186	130131186	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130131186G>A	ENST00000357899.4	-	2	855	c.583C>T	c.(583-585)Cct>Tct	p.P195S	ZBTB44_ENST00000397753.1_Missense_Mutation_p.P195S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P195S|ZBTB44_ENST00000525842.1_Missense_Mutation_p.P195S			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	195					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.P195S(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CACTTTACAGGACTTTCAGGA	0.458																																					p.P195S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	11						.						87.0	83.0	84.0					11																	130131186		1928	4133	6061	129636396	SO:0001583	missense	29068	exon2			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.583C>T	11.37:g.130131186G>A	ENSP00000350574:p.Pro195Ser		129636396	NM_014155	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.020861|4.020861	0.75275|0.75275	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191|ENST00000527478	T;T;T;T;T|T	0.59364|0.55760	0.27;0.27;0.27;0.27;0.27|0.5	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54663|0.54663	0.1872|0.1872	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.996;0.996;0.993;1.0|.	D;D;D;D|.	0.87578|.	0.986;0.986;0.968;0.998|.	T|T	0.51741|0.51741	-0.8667|-0.8667	10|7	0.87932|0.39692	D|T	0|0.17	.|.	19.4488|19.4488	0.94859|0.94859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195;195;195;195|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.	.;.;ZBT44_HUMAN;.|.	S|F	195;195;195;195;195;107|191	ENSP00000433457:P195S;ENSP00000380861:P195S;ENSP00000408079:P195S;ENSP00000350574:P195S;ENSP00000434177:P195S|ENSP00000436187:S191F	ENSP00000341618:P107S|ENSP00000436187:S191F	P|S	-|-	1|2	0|0	ZBTB44|ZBTB44	129636396|129636396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.187000|9.187000	0.94912|0.94912	2.586000|2.586000	0.87340|0.87340	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.458	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
ADAMTS15	170689	broad.mit.edu	37	11	130341198	130341198	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130341198G>T	ENST00000299164.2	+	7	1998	c.1998G>T	c.(1996-1998)aaG>aaT	p.K666N		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	666	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K666N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGGGCTCCAAGAAGAGATTCG	0.572																																					p.K666N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1998T	11						.						136.0	133.0	134.0					11																	130341198		2201	4297	6498	129846408	SO:0001583	missense	170689	exon7			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1998G>T	11.37:g.130341198G>T	ENSP00000299164:p.Lys666Asn		129846408	NM_139055	Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812056	0.32053	.	.	ENSG00000166106	ENST00000299164	T	0.66099	-0.19	5.97	4.12	0.48240	.	.	.	.	.	T	0.38772	0.1053	N	0.11023	0.085	0.43647	D	0.996052	B	0.02656	0.0	B	0.04013	0.001	T	0.10917	-1.0609	9	0.20519	T	0.43	.	8.8375	0.35121	0.2788:0.0:0.7212:0.0	.	666	Q8TE58	ATS15_HUMAN	N	666	ENSP00000299164:K666N	ENSP00000299164:K666N	K	+	3	2	ADAMTS15	129846408	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.318000	0.33643	0.868000	0.35678	0.655000	0.94253	AAG		0.572	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055	
SNX19	399979	broad.mit.edu	37	11	130784604	130784604	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130784604G>T	ENST00000265909.4	-	1	1800	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	SNX19_ENST00000533214.1_Missense_Mutation_p.L411M|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_De_novo_Start_OutOfFrame|SNX19_ENST00000530356.1_De_novo_Start_OutOfFrame	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	411					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L411M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TTGGGTTCCAGAGCCTGGGAA	0.552																																					p.L411M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1231A	11						.						57.0	55.0	56.0					11																	130784604		2201	4297	6498	130289814	SO:0001583	missense	399979	exon1			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1231C>A	11.37:g.130784604G>T	ENSP00000265909:p.Leu411Met		130289814	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531405	0.27387	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.24350	1.86;1.86	4.88	1.91	0.25777	.	1.256370	0.05410	N	0.542200	T	0.15609	0.0376	L	0.32530	0.975	0.09310	N	0.999997	P;B	0.40083	0.702;0.451	B;B	0.32149	0.141;0.086	T	0.23190	-1.0195	10	0.52906	T	0.07	-4.2499	0.7336	0.00961	0.3131:0.1615:0.3593:0.1662	.	411;411	E9PKB9;Q92543	.;SNX19_HUMAN	M	411	ENSP00000265909:L411M;ENSP00000435390:L411M	ENSP00000265909:L411M	L	-	1	2	SNX19	130289814	0.095000	0.21747	0.353000	0.25747	0.529000	0.34654	0.671000	0.25172	0.238000	0.21222	0.650000	0.86243	CTG		0.552	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
SNX19	399979	broad.mit.edu	37	11	130784751	130784751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:130784751G>A	ENST00000265909.4	-	1	1653	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	SNX19_ENST00000533214.1_Nonsense_Mutation_p.R362*|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	362					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R362*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AGGGGACCTCGAACATTTGGC	0.483																																					p.R362X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1084T	11						.						66.0	65.0	65.0					11																	130784751		2201	4297	6498	130289961	SO:0001587	stop_gained	399979	exon1			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1084C>T	11.37:g.130784751G>A	ENSP00000265909:p.Arg362*		130289961	NM_014758	E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	39	7.328037	0.98214	.	.	ENSG00000120451	ENST00000265909;ENST00000533214	.	.	.	5.23	3.22	0.36961	.	0.463174	0.19793	N	0.105939	.	.	.	.	.	.	0.47009	D	0.999288	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-1.1055	13.0527	0.58964	0.0:0.0:0.5805:0.4195	.	.	.	.	X	362	.	ENSP00000265909:R362X	R	-	1	2	SNX19	130289961	0.954000	0.32549	0.791000	0.31998	0.300000	0.27592	2.330000	0.43885	1.175000	0.42826	0.644000	0.83932	CGA		0.483	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
OPCML	4978	broad.mit.edu	37	11	132306105	132306105	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:132306105C>A	ENST00000331898.7	-	6	1390	c.812G>T	c.(811-813)aGg>aTg	p.R271M	OPCML_ENST00000374778.4_Missense_Mutation_p.R230M|OPCML_ENST00000524381.1_Missense_Mutation_p.R264M|OPCML_ENST00000541867.1_Missense_Mutation_p.R271M|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	271	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.R271M(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTTTTCAATCCTCATTCCATC	0.448																																					p.R264M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791T	11						.						154.0	141.0	145.0					11																	132306105		2201	4297	6498	131811315	SO:0001583	missense	4978	exon7			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.812G>T	11.37:g.132306105C>A	ENSP00000330862:p.Arg271Met		131811315	NM_001012393	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831818	0.71258	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.91	4.99	0.66335	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.091270	0.85682	D	0.000000	T	0.75525	0.3861	M	0.64997	1.995	0.43047	D	0.994641	D;P;P;P	0.55800	0.973;0.921;0.921;0.921	P;P;P;P	0.56343	0.796;0.796;0.796;0.796	T	0.78807	-0.2059	10	0.66056	D	0.02	-19.6951	14.6617	0.68876	0.0:0.9297:0.0:0.0703	.	271;264;270;271	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	M	271;264;230;238;271	ENSP00000330862:R271M;ENSP00000434750:R264M;ENSP00000363910:R230M;ENSP00000445496:R271M	ENSP00000330862:R271M	R	-	2	0	OPCML	131811315	1.000000	0.71417	0.993000	0.49108	0.794000	0.44872	3.504000	0.53347	1.502000	0.48669	0.650000	0.86243	AGG		0.448	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
ARNTL	406	broad.mit.edu	37	11	13375869	13375869	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:13375869G>T	ENST00000403290.1	+	5	369	c.14G>T	c.(13-15)aGa>aTa	p.R5I	ARNTL_ENST00000389707.4_Missense_Mutation_p.R5I|RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000361003.4_Missense_Mutation_p.R5I|ARNTL_ENST00000389708.3_Missense_Mutation_p.R5I|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000396441.3_Missense_Mutation_p.R5I|ARNTL_ENST00000403510.3_5'UTR			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	5					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R5I(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		gcagaccagagaatggacatt	0.493																																					p.R5I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14T	11						.						84.0	72.0	76.0					11																	13375869		2200	4294	6494	13332445	SO:0001583	missense	406	exon4			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.14G>T	11.37:g.13375869G>T	ENSP00000384517:p.Arg5Ile		13332445	NM_001030272	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.780132	0.90195	.	.	ENSG00000133794	ENST00000529050;ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.55760	2.81;2.81;0.5;2.82;2.47;2.65	5.71	4.79	0.61399	.	0.051780	0.85682	N	0.000000	T	0.60011	0.2236	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.64162	-0.6472	10	0.66056	D	0.02	.	13.9591	0.64168	0.0:0.0:0.8479:0.1521	.	5;5	O00327;O00327-8	BMAL1_HUMAN;.	I	5	ENSP00000379718:R5I;ENSP00000374357:R5I;ENSP00000433571:R5I;ENSP00000384517:R5I;ENSP00000354278:R5I;ENSP00000374358:R5I	ENSP00000354278:R5I	R	+	2	0	ARNTL	13332445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.528000	0.90598	1.392000	0.46585	0.655000	0.94253	AGA		0.493	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
ARNTL	406	broad.mit.edu	37	11	13395673	13395673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:13395673G>T	ENST00000403290.1	+	14	1454	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	ARNTL_ENST00000389707.4_Nonsense_Mutation_p.E366*|ARNTL_ENST00000401424.1_Nonsense_Mutation_p.E324*|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000389708.3_Nonsense_Mutation_p.E367*|ARNTL_ENST00000403482.3_Nonsense_Mutation_p.E365*|ARNTL_ENST00000396441.3_Nonsense_Mutation_p.E366*|ARNTL_ENST00000403510.3_Nonsense_Mutation_p.E323*			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	367	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E366*(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TTTACCACAAGAACTTCTAGG	0.353																																					p.E323X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G967T	11						.						140.0	132.0	135.0					11																	13395673		2200	4294	6494	13352249	SO:0001587	stop_gained	406	exon14			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1099G>T	11.37:g.13395673G>T	ENSP00000384517:p.Glu367*		13352249	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Nonsense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	44	10.610343	0.99437	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0286	0.89276	0.0:0.0:1.0:0.0	.	.	.	.	X	366;366;324;367;367;323;323;365	.	ENSP00000340289:E323X	E	+	1	0	ARNTL	13352249	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.346000	0.79739	0.561000	0.74099	GAA		0.353	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
ARNTL	406	broad.mit.edu	37	11	13397239	13397239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:13397239C>T	ENST00000403290.1	+	15	1610	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	ARNTL_ENST00000389707.4_Nonsense_Mutation_p.R418*|ARNTL_ENST00000401424.1_Nonsense_Mutation_p.R376*|ARNTL_ENST00000361003.4_Nonsense_Mutation_p.R301*|ARNTL_ENST00000389708.3_Nonsense_Mutation_p.R419*|ARNTL_ENST00000403482.3_Nonsense_Mutation_p.R417*|ARNTL_ENST00000396441.3_Nonsense_Mutation_p.R418*|ARNTL_ENST00000403510.3_Nonsense_Mutation_p.R375*			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	419	PAC.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R418*(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		ACTACGGAGTCGATGGTTCAG	0.328																																					p.R375X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1123T	11						.						95.0	82.0	86.0					11																	13397239		2200	4294	6494	13353815	SO:0001587	stop_gained	406	exon15			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1255C>T	11.37:g.13397239C>T	ENSP00000384517:p.Arg419*		13353815	NM_001030273	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Nonsense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	C	43	10.356614	0.99390	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.1548	0.59511	0.0:0.9224:0.0:0.0776	.	.	.	.	X	418;418;376;419;301;419;375;375;417	.	ENSP00000340289:R375X	R	+	1	2	ARNTL	13353815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.644000	0.54381	2.515000	0.84797	0.561000	0.74099	CGA		0.328	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
SPATA19	219938	broad.mit.edu	37	11	133712402	133712402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:133712402G>A	ENST00000299140.3	-	5	469	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R139*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	139					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.R139*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		TGCTCTATTCGATCTCGCATG	0.517																																					p.R139X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C415T	11						.						275.0	212.0	233.0					11																	133712402		2201	4297	6498	133217612	SO:0001587	stop_gained	219938	exon5			AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.415C>T	11.37:g.133712402G>A	ENSP00000299140:p.Arg139*		133217612	NM_174927	Q8N7A9	Nonsense_Mutation	SNP	ENST00000299140.3	37	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128968	0.94473	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	.	.	.	5.66	2.52	0.30459	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2355	7.7475	0.28877	0.0:0.1299:0.416:0.4541	.	.	.	.	X	139	.	ENSP00000299140:R139X	R	-	1	2	SPATA19	133217612	0.958000	0.32768	0.501000	0.27601	0.935000	0.57460	1.624000	0.37018	0.751000	0.32900	0.462000	0.41574	CGA		0.517	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927	
ACAD8	27034	broad.mit.edu	37	11	134128487	134128487	+	Missense_Mutation	SNP	G	G	T	rs35423297		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:134128487G>T	ENST00000281182.4	+	4	565	c.459G>T	c.(457-459)gaG>gaT	p.E153D	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Missense_Mutation_p.E55D|ACAD8_ENST00000537423.1_Missense_Mutation_p.E76D	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	153					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.E153D(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GTACCATGGAGAAGTTTGCTT	0.488																																					p.E153D	GBM(65;238 1125 33403 41853 48889)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459T	11						.						129.0	90.0	103.0					11																	134128487		2201	4297	6498	133633697	SO:0001583	missense	27034	exon4			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.459G>T	11.37:g.134128487G>T	ENSP00000281182:p.Glu153Asp		133633697	NM_014384	B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260296	0.39995	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99201	-5.55;-5.55;-5.55	5.56	5.56	0.83823	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.099177	0.64402	D	0.000002	D	0.96355	0.8811	L	0.37507	1.11	0.43988	D	0.996683	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.003;0.005;0.001;0.001;0.005	D	0.91859	0.5498	10	0.37606	T	0.19	.	5.7791	0.18295	0.1166:0.0:0.6944:0.189	.	94;76;55;55;153	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	D	153;76;55;115	ENSP00000281182:E153D;ENSP00000443763:E76D;ENSP00000438302:E55D	ENSP00000281182:E153D	E	+	3	2	ACAD8	133633697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.909000	0.39917	2.605000	0.88082	0.655000	0.94253	GAG		0.488	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384	
RIC8A	60626	broad.mit.edu	37	11	209294	209294	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:209294T>G	ENST00000526104.1	+	2	1452	c.108T>G	c.(106-108)gaT>gaG	p.D36E	BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.D36E|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_Start_Codon_SNP_p.M1R|BET1L_ENST00000325147.9_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	36					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D36E(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCACGTTTGATGATGCCCAAC	0.612																																					p.D36E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T108G	11						.						137.0	148.0	144.0					11																	209294		2203	4300	6503	199294	SO:0001583	missense	60626	exon2			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.108T>G	11.37:g.209294T>G	ENSP00000432008:p.Asp36Glu		199294	NM_021932	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.799|4.799	0.148592|0.148592	0.09134|0.09134	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000531209;ENST00000528357;ENST00000530889|ENST00000527696	.|.	.|.	.|.	3.36|3.36	-6.73|-6.73	0.01749|0.01749	.|.	0.408611|.	0.26677|.	N|.	0.023068|.	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.09377|.	0.001;0.004|.	T|T	0.43669|0.43669	-0.9377|-0.9377	9|6	0.10902|0.87932	T|D	0.67|0	-11.6641|-11.6641	4.1008|4.1008	0.10012|0.10012	0.1021:0.4413:0.2068:0.2498|0.1021:0.4413:0.2068:0.2498	.|.	36;36|.	Q9NPQ8;Q9NPQ8-3|.	RIC8A_HUMAN;.|.	E|R	36;36;36;36;40|1	.|.	ENSP00000325941:D36E|ENSP00000434833:M1R	D|M	+|+	3|2	2|0	RIC8A|RIC8A	199294|199294	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.207000|0.207000	0.24258|0.24258	-6.424000|-6.424000	0.00066|0.00066	-2.575000|-2.575000	0.00465|0.00465	-1.426000|-1.426000	0.01102|0.01102	GAT|ATG		0.612	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
IFITM2	10581	broad.mit.edu	37	11	308216	308216	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:308216C>A	ENST00000399817.4	+	1	54	c.24C>A	c.(22-24)ttC>ttA	p.F8L	IFITM2_ENST00000533141.1_Intron|RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000602569.1_5'Flank	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	8					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F8L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGCAAACCTTCTCTCCTGTCA	0.577																																					p.F8L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C24A	11						.						165.0	192.0	183.0					11																	308216		2029	4182	6211	298216	SO:0001583	missense	10581	exon1			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.24C>A	11.37:g.308216C>A	ENSP00000382714:p.Phe8Leu		298216	NM_006435	Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	CCDS41583.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996407	0.54147	.	.	ENSG00000185201	ENST00000399817;ENST00000327366	T	0.80214	-1.35	2.89	0.833	0.18875	.	.	.	.	.	D	0.83041	0.5168	L	0.46741	1.465	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69544	-0.5117	9	0.59425	D	0.04	.	5.2024	0.15273	0.0:0.6664:0.0:0.3336	.	8	Q01629	IFM2_HUMAN	L	8	ENSP00000382714:F8L	ENSP00000327996:F8L	F	+	3	2	IFITM2	298216	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.609000	0.05635	0.045000	0.15804	0.313000	0.20887	TTC		0.577	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435	
CDHR5	53841	broad.mit.edu	37	11	621658	621658	+	Silent	SNP	C	C	T	rs140067219		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:621658C>T	ENST00000358353.3	-	6	733	c.411G>A	c.(409-411)acG>acA	p.T137T	CDHR5_ENST00000397542.2_Silent_p.T137T|CDHR5_ENST00000349570.7_Silent_p.T137T|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.T137T(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGTTCACTTTCGTGTCCTGGG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15813	0.0		0.0	False		,,,				2504	0.0				p.T137T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G411A	11						.		,,	1,4405	2.1+/-5.4	0,1,2202	118.0	97.0	104.0		411,411,411	-7.8	0.4	11	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CDHR5	NM_001171968.1,NM_021924.4,NM_031264.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	137/840,137/846,137/652	621658	1,13005	2203	4300	6503	611658	SO:0001819	synonymous_variant	53841	exon5			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.411G>A	11.37:g.621658C>T			611658	NM_031264	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	CCDS7707.1																																																																																				0.627	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
DEAF1	10522	broad.mit.edu	37	11	688019	688019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:688019C>A	ENST00000382409.3	-	4	1040	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	DEAF1_ENST00000338675.6_Nonsense_Mutation_p.E186*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	186			E -> V (in a primary colorectal cancer). {ECO:0000269|PubMed:11705868}.		anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E186*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCACCTTTTTCTTGGCCGGGA	0.552																																					p.E186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G556T	11						.						59.0	67.0	64.0					11																	688019		2203	4300	6503	678019	SO:0001587	stop_gained	10522	exon4			AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.556G>T	11.37:g.688019C>A	ENSP00000371846:p.Glu186*		678019	NM_021008	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	C	42	9.338889	0.99142	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	.	.	.	4.77	4.77	0.60923	.	0.309163	0.29348	N	0.012402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-14.5834	16.9509	0.86245	0.0:1.0:0.0:0.0	.	.	.	.	X	186;186;172;109	.	ENSP00000341902:E186X	E	-	1	0	DEAF1	678019	1.000000	0.71417	0.395000	0.26283	0.854000	0.48673	7.348000	0.79366	2.349000	0.79799	0.655000	0.94253	GAA		0.552	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008	
AP2A2	161	broad.mit.edu	37	11	985550	985550	+	Silent	SNP	C	C	T	rs375464272		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:985550C>T	ENST00000448903.2	+	8	1071	c.930C>T	c.(928-930)ttC>ttT	p.F310F	AP2A2_ENST00000332231.5_Silent_p.F311F|AP2A2_ENST00000534328.1_Silent_p.F310F	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	310					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.F311F(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGCTCTTCGAGGCCATCA	0.577																																					p.F310F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	11						.	C	,	1,4291		0,1,2145	88.0	89.0	89.0		933,930	-1.7	1.0	11		89	0,8498		0,0,4249	no	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	0,1,6394	TT,TC,CC		0.0,0.0233,0.0078	,	311/941,310/940	985550	1,12789	2146	4249	6395	975550	SO:0001819	synonymous_variant	161	exon8			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.930C>T	11.37:g.985550C>T			975550	NM_012305	O75403|Q53ET1|Q96SI8	Silent	SNP	ENST00000448903.2	37	CCDS44512.1																																																																																				0.577	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
MOB2	81532	broad.mit.edu	37	11	1501712	1501712	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:1501712C>T	ENST00000329957.6	-	3	465	c.276G>A	c.(274-276)acG>acA	p.T92T	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	61					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						GGAAAAACGTCGTGGCTGGAA	0.582																																					p.T61T												.	.	0			c.G183A	11						.						109.0	118.0	115.0					11																	1501712		2066	4197	6263	1458288	SO:0001819	synonymous_variant	81532	exon4				CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.276G>A	11.37:g.1501712C>T			1458288	NM_053005	B4DKP3|Q96M67	Silent	SNP	ENST00000329957.6	37	CCDS53591.1																																																																																				0.582	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005	
NAP1L4	4676	broad.mit.edu	37	11	2972545	2972545	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:2972545C>A	ENST00000380542.4	-	14	1206	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	NAP1L4_ENST00000526115.1_Splice_Site_p.E356*|NAP1L4_ENST00000469089.1_5'Flank	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	356	Asp/Glu-rich (acidic).				nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.E356*(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		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;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CCTTCTAATTCCTGTATTTAA	0.433																																					p.E356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1066T	11						.						240.0	243.0	242.0					11																	2972545		1895	4114	6009	2929121	SO:0001630	splice_region_variant	4676	exon14			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.1066-1G>T	11.37:g.2972545C>A			2929121	NM_005969	B2R6J4|F5HFY4	Nonsense_Mutation	SNP	ENST00000380542.4	37	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	C	37	6.242416	0.97408	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	.	.	.	3.63	3.63	0.41609	.	0.146153	0.45126	D	0.000400	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.3912	13.6283	0.62181	0.0:1.0:0.0:0.0	.	.	.	.	X	356	.	ENSP00000369915:E356X	E	-	1	0	NAP1L4	2929121	1.000000	0.71417	0.885000	0.34714	0.428000	0.31595	2.070000	0.41491	2.331000	0.79229	0.655000	0.94253	GAA		0.433	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969	Nonsense_Mutation
CARS	833	broad.mit.edu	37	11	3041553	3041553	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3041553C>A	ENST00000397111.5	-	10	1159	c.914G>T	c.(913-915)aGc>aTc	p.S305I	CARS_ENST00000401769.3_Missense_Mutation_p.S318I|CARS_ENST00000397114.3_Missense_Mutation_p.S295I|CARS_ENST00000278224.9_Missense_Mutation_p.S305I|CARS_ENST00000380525.4_Missense_Mutation_p.S388I			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	305					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.S305I(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCAGAGATGCTCAGGTCACC	0.602			T	ALK	ALCL																																p.S388I	Ovarian(61;932 1157 5961 20446 52152)		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163T	11						.						103.0	70.0	81.0					11																	3041553		2202	4298	6500	2998129	SO:0001583	missense	833	exon11			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.914G>T	11.37:g.3041553C>A	ENSP00000380300:p.Ser305Ile		2998129	NM_001014437	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145130	0.57044	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.49432	0.78;0.79;0.78;0.79;0.78	4.31	4.31	0.51392	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.87456	2.885	0.80722	D	1	D;D;D;D;P;D	0.89917	0.985;0.996;1.0;0.999;0.507;0.999	D;D;D;D;B;D	0.83275	0.942;0.979;0.996;0.994;0.304;0.995	T	0.79694	-0.1696	10	0.72032	D	0.01	-32.4039	16.9598	0.86269	0.0:1.0:0.0:0.0	.	318;388;305;305;388;295	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	I	388;305;305;295;318	ENSP00000369897:S388I;ENSP00000380300:S305I;ENSP00000278224:S305I;ENSP00000380303:S295I;ENSP00000384069:S318I	ENSP00000278224:S305I	S	-	2	0	CARS	2998129	1.000000	0.71417	0.993000	0.49108	0.020000	0.10135	7.170000	0.77587	2.222000	0.72286	0.467000	0.42956	AGC		0.602	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751	
NUP98	4928	broad.mit.edu	37	11	3704593	3704593	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3704593C>A	ENST00000324932.7	-	30	5175	c.4755G>T	c.(4753-4755)gaG>gaT	p.E1585D	NUP98_ENST00000355260.3_Missense_Mutation_p.E1511D|NUP98_ENST00000359171.4_Missense_Mutation_p.E1511D	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1602					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.E1585D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAAGGAAAGTCTCTTTAGCCC	0.527			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.E1511D			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4533T	11						.						115.0	109.0	111.0					11																	3704593		2201	4298	6499	3661169	SO:0001583	missense	4928	exon29			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4755G>T	11.37:g.3704593C>A	ENSP00000316032:p.Glu1585Asp		3661169	NM_139132	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.525408|4.525408	0.85600|0.85600	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	6.02|6.02	3.18|3.18	0.36537|0.36537	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66066|0.66066	0.2752|0.2752	M|M	0.81497|0.81497	2.545|2.545	0.23731|0.23731	N|N	0.996995|0.996995	.|D;D;D	.|0.89917	.|0.997;0.999;1.0	.|D;D;D	.|0.83275	.|0.99;0.995;0.996	T|T	0.57596|0.57596	-0.7784|-0.7784	5|9	.|0.36615	.|T	.|0.2	-17.253|-17.253	10.3892|10.3892	0.44158|0.44158	0.0:0.7921:0.0:0.2079|0.0:0.7921:0.0:0.2079	.|.	.|1511;1585;1499	.|P52948-2;P52948-5;P52948-6	.|.;.;.	Y|D	538|1585;1511;1511	.|.	.|ENSP00000316032:E1585D	D|E	-|-	1|3	0|2	NUP98|NUP98	3661169|3661169	0.988000|0.988000	0.35896|0.35896	0.982000|0.982000	0.44146|0.44146	0.980000|0.980000	0.70556|0.70556	0.911000|0.911000	0.28584|0.28584	0.460000|0.460000	0.27045|0.27045	0.650000|0.650000	0.86243|0.86243	GAC|GAG		0.527	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
NUP98	4928	broad.mit.edu	37	11	3740705	3740705	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3740705C>A	ENST00000324932.7	-	18	2756	c.2336G>T	c.(2335-2337)aGg>aTg	p.R779M	NUP98_ENST00000397007.4_Missense_Mutation_p.R796M|NUP98_ENST00000355260.3_Missense_Mutation_p.R779M|NUP98_ENST00000397004.4_Missense_Mutation_p.R779M|NUP98_ENST00000359171.4_Missense_Mutation_p.R779M	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	796	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R779M(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TACTTCTTTCCTCCGGATATG	0.328			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.R796M			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387T	11						.						117.0	115.0	116.0					11																	3740705		2201	4295	6496	3697281	SO:0001583	missense	4928	exon18			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2336G>T	11.37:g.3740705C>A	ENSP00000316032:p.Arg779Met		3697281	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836161	0.91117	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.979;0.989;0.997;0.986	T	0.77534	-0.2552	9	0.48119	T	0.1	.	16.2641	0.82565	0.0:1.0:0.0:0.0	.	796;779;779;779	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	M	779;779;779;779;796	.	ENSP00000316032:R779M	R	-	2	0	NUP98	3697281	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.269000	0.78482	2.509000	0.84616	0.563000	0.77884	AGG		0.328	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
NUP98	4928	broad.mit.edu	37	11	3752790	3752790	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3752790G>T	ENST00000324932.7	-	14	1981	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	NUP98_ENST00000397007.4_Missense_Mutation_p.P538T|NUP98_ENST00000355260.3_Missense_Mutation_p.P521T|NUP98_ENST00000397004.4_Missense_Mutation_p.P521T|NUP98_ENST00000359171.4_Missense_Mutation_p.P521T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	538					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.P521T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGGGCTGCTGGATTTGTTGGT	0.428			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																p.P538T			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1612A	11						.						135.0	149.0	145.0					11																	3752790		2201	4298	6499	3709366	SO:0001583	missense	4928	exon14			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1561C>A	11.37:g.3752790G>T	ENSP00000316032:p.Pro521Thr		3709366	NM_005387	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.592781|4.592781	0.86953|0.86953	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007|ENST00000527104	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73916|0.73916	0.3648|0.3648	M|M	0.66439|0.66439	2.03|2.03	0.58432|0.58432	D|D	0.999999|0.999999	D;P;D;D|.	0.89917|.	1.0;0.939;1.0;1.0|.	D;P;D;D|.	0.91635|.	0.999;0.654;0.999;0.999|.	T|T	0.72874|0.72874	-0.4160|-0.4160	9|5	0.52906|.	T|.	0.07|.	.|.	17.8797|17.8797	0.88837|0.88837	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	538;521;521;521|.	P52948-3;P52948-4;P52948-2;P52948-5|.	.;.;.;.|.	T|Y	521;521;521;521;538|140	.|.	ENSP00000316032:P521T|.	P|S	-|-	1|2	0|0	NUP98|NUP98	3709366|3709366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.462000|2.462000	0.83206|0.83206	0.467000|0.467000	0.42956|0.42956	CCA|TCC		0.428	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
PGAP2	27315	broad.mit.edu	37	11	3838603	3838603	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3838603C>A	ENST00000463452.2	+	2	248				PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000465307.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000278243.4_Missense_Mutation_p.F62L|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F62L	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.F62L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						GCAGGATGTTCTCTGCGGCCT	0.597																																					p.F62L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C186A	11						.						125.0	115.0	118.0					11																	3838603		2201	4298	6499	3795179	SO:0001627	intron_variant	27315	exon3			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+5949C>A	11.37:g.3838603C>A			3795179	NM_014489	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Missense_Mutation	SNP	ENST00000463452.2	37	CCDS58112.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.16|15.16	2.749892|2.749892	0.49257|0.49257	.|.	.|.	ENSG00000148985|ENSG00000148985	ENST00000396991;ENST00000278243;ENST00000502872|ENST00000464906	.|.	.|.	.|.	5.53|5.53	2.43|2.43	0.29744|0.29744	.|.	0.277861|.	0.29053|.	N|.	0.013295|.	T|T	0.03564|0.03564	0.0102|0.0102	N|N	0.00034|0.00034	-2.56|-2.56	0.26521|0.26521	N|N	0.974425|0.974425	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38457|0.38457	-0.9660|-0.9660	9|5	0.07030|.	T|.	0.85|.	-12.5783|-12.5783	5.4408|5.4408	0.16507|0.16507	0.0:0.654:0.1657:0.1802|0.0:0.654:0.1657:0.1802	.|.	62|.	Q9UHJ9|.	PGAP2_HUMAN|.	L|Y	62;62;2|92	.|.	ENSP00000278243:F62L|.	F|S	+|+	3|2	2|0	PGAP2|PGAP2	3795179|3795179	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.081000|0.081000	0.14823|0.14823	1.330000|1.330000	0.45394|0.45394	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.597	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1		
PGAP2	27315	broad.mit.edu	37	11	3838696	3838696	+	Intron	SNP	C	C	T	rs75812077		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:3838696C>T	ENST00000463452.2	+	2	248				PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000465307.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000278243.4_Silent_p.F93F|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396991.2_Silent_p.F93F	NM_001256240.1	NP_001243169.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2						GPI anchor biosynthetic process (GO:0006506)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|signal transduction in response to DNA damage (GO:0042770)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.F93F(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TTCCTGTGTTCGGCTTCTTCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18775	0.001		0.0	False		,,,				2504	0.0				p.F93F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	11						.						160.0	143.0	149.0					11																	3838696		2201	4298	6499	3795272	SO:0001627	intron_variant	27315	exon3			AF159615	CCDS7747.1, CCDS44523.1, CCDS58112.1, CCDS58113.1, CCDS73244.1, CCDS73245.1	11p15.4	2014-01-31			ENSG00000148985	ENSG00000148985			17893	protein-coding gene	gene with protein product	"""FGF receptor activating protein 1"", ""cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)"""	615187	"""mental retardation, non-syndromic, autosomal recessive, 21"""	MRT21		10585768, 16407401, 23561846	Standard	NM_014489		Approved	FRAG1, CWH43-N	uc010qxw.3	Q9UHJ9	OTTHUMG00000012238	ENST00000463452.2:c.165+6042C>T	11.37:g.3838696C>T			3795272	NM_014489	E9PJG5|H7BXL9|Q6UC77|Q96G66|Q9UF01|Q9Y4N1	Silent	SNP	ENST00000463452.2	37	CCDS58112.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.15	2.747595	0.49257	.	.	ENSG00000148985	ENST00000532535;ENST00000464906	.	.	.	5.39	4.47	0.54385	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59674	-0.7410	4	.	.	.	-17.504	10.4435	0.44479	0.0:0.9089:0.0:0.0911	.	.	.	.	L	106;123	.	.	S	+	2	0	PGAP2	3795272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.689000	0.25437	1.246000	0.43901	0.650000	0.86243	TCG		0.597	PGAP2-049	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383260.1		
RRM1	6240	broad.mit.edu	37	11	4148290	4148290	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4148290G>A	ENST00000300738.5	+	14	1700	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	RRM1_ENST00000534285.1_Missense_Mutation_p.R277H|RRM1_ENST00000423050.2_Missense_Mutation_p.R402H|RRM1_ENST00000537197.1_Missense_Mutation_p.R161H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	499					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.R499H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAACGCCATCGCCCCATTGGA	0.408																																					p.R499H	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	11						.						105.0	108.0	107.0					11																	4148290		2201	4298	6499	4104866	SO:0001583	missense	6240	exon14			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1496G>A	11.37:g.4148290G>A	ENSP00000300738:p.Arg499His		4104866	NM_001033	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278779	0.95489	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.74	5.74	0.90152	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90014	0.4123	10	0.87932	D	0	-8.2326	18.483	0.90819	0.0:0.0:1.0:0.0	.	499	P23921	RIR1_HUMAN	H	499;402;412;277;277;161	ENSP00000300738:R499H;ENSP00000390539:R402H;ENSP00000431464:R277H;ENSP00000442148:R161H	ENSP00000300738:R499H	R	+	2	0	RRM1	4104866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.407000	0.97325	2.719000	0.93026	0.655000	0.94253	CGC		0.408	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	
OR52B4	143496	broad.mit.edu	37	11	4388943	4388943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4388943G>A	ENST00000408920.2	-	1	673	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R195*(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTATTCGAATGTCATTA	0.338																																					p.R195X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C583T	11						.						72.0	69.0	70.0					11																	4388943		1854	4097	5951	4345519	SO:0001587	stop_gained	143496	exon1			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.583C>T	11.37:g.4388943G>A	ENSP00000386160:p.Arg195*		4345519	NM_001005161	A6NP68|Q6IFK6	Nonsense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863359	0.32884	.	.	ENSG00000221996	ENST00000408920	.	.	.	5.29	-0.0532	0.13819	.	1.058310	0.07455	N	0.899735	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7048	0.08397	0.2928:0.0:0.3248:0.3824	.	.	.	.	X	195	.	ENSP00000386160:R195X	R	-	1	2	OR52B4	4345519	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.420000	0.07062	0.072000	0.16694	-0.182000	0.12963	CGA		0.338	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
OR52B4	143496	broad.mit.edu	37	11	4389010	4389010	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4389010C>T	ENST00000408920.2	-	1	606	c.516G>A	c.(514-516)caG>caA	p.Q172Q		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	172					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q172Q(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATATTATTCTGGCAGAAAG	0.333																																					p.Q172Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G516A	11						.						62.0	60.0	61.0					11																	4389010		1824	4078	5902	4345586	SO:0001819	synonymous_variant	143496	exon1			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.516G>A	11.37:g.4389010C>T			4345586	NM_001005161	A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	CCDS41609.1																																																																																				0.333	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161	
OR52K1	390036	broad.mit.edu	37	11	4510907	4510907	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4510907C>A	ENST00000307632.3	+	1	799	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I259I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTAGTCATCTCTTCAGTCA	0.527																																					p.I259I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777A	11						.						250.0	220.0	230.0					11																	4510907		2201	4298	6499	4467483	SO:0001819	synonymous_variant	390036	exon1			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.777C>A	11.37:g.4510907C>A			4467483	NM_001005171	B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	CCDS31352.1																																																																																				0.527	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171	
C11orf40	143501	broad.mit.edu	37	11	4594546	4594546	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4594546A>C	ENST00000307616.1	-	2	297	c.298T>G	c.(298-300)Ttt>Gtt	p.F100V		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	100			F -> S (in dbSNP:rs12795289).					p.F100V(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTACCCTAAAGCAAGGTCTT	0.488																																					p.F100V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T298G	11						.						213.0	174.0	187.0					11																	4594546		2201	4298	6499	4551122	SO:0001583	missense	143501	exon2				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.298T>G	11.37:g.4594546A>C	ENSP00000302918:p.Phe100Val		4551122	NM_144663		Missense_Mutation	SNP	ENST00000307616.1	37	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	A	5.104	0.204870	0.09704	.	.	ENSG00000171987	ENST00000307616	T	0.54279	0.58	1.45	-1.26	0.09376	.	.	.	.	.	T	0.25680	0.0625	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.16335	-1.0406	9	0.87932	D	0	.	1.5754	0.02624	0.3149:0.2195:0.0:0.4656	.	100	Q8WZ69	CK040_HUMAN	V	100	ENSP00000302918:F100V	ENSP00000302918:F100V	F	-	1	0	C11orf40	4551122	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.711000	0.05019	-0.377000	0.07930	-0.811000	0.03165	TTT		0.488	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663	
C11orf40	143501	broad.mit.edu	37	11	4599000	4599000	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4599000G>T	ENST00000307616.1	-	1	50	c.51C>A	c.(49-51)tcC>tcA	p.S17S		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	17								p.S17S(1)		large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		tctgcaaaatggacagctttg	0.542																																					p.S17S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51A	11						.						51.0	44.0	46.0					11																	4599000		2201	4297	6498	4555576	SO:0001819	synonymous_variant	143501	exon1				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.51C>A	11.37:g.4599000G>T			4555576	NM_144663		Silent	SNP	ENST00000307616.1	37	CCDS31354.1																																																																																				0.542	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663	
OR52I2	143502	broad.mit.edu	37	11	4608533	4608533	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4608533G>T	ENST00000312614.4	+	1	513	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R164I(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACTACAAGAGAATTCTCACG	0.493																																					p.R164I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491T	11						.						57.0	58.0	58.0					11																	4608533		2201	4298	6499	4565109	SO:0001583	missense	143502	exon1			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.491G>T	11.37:g.4608533G>T	ENSP00000308764:p.Arg164Ile		4565109	NM_001005170	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	5.779	0.328066	0.10956	.	.	ENSG00000226288	ENST00000312614	T	0.00418	7.49	4.18	0.72	0.18214	GPCR, rhodopsin-like superfamily (1);	0.766887	0.11161	N	0.593031	T	0.00300	0.0009	N	0.17278	0.47	0.28659	N	0.906235	B	0.22003	0.063	B	0.27170	0.077	T	0.38090	-0.9677	10	0.66056	D	0.02	-2.0024	13.9525	0.64126	0.0:0.5153:0.4846:0.0	.	164	Q8NH67	O52I2_HUMAN	I	164	ENSP00000308764:R164I	ENSP00000308764:R164I	R	+	2	0	OR52I2	4565109	0.000000	0.05858	0.986000	0.45419	0.160000	0.22226	-0.743000	0.04845	0.347000	0.23924	0.644000	0.83932	AGA		0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170	
OR52I1	390037	broad.mit.edu	37	11	4615426	4615426	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4615426T>G	ENST00000530443.2	+	1	158	c.158T>G	c.(157-159)aTc>aGc	p.I53S	OR52I1_ENST00000450052.2_Missense_Mutation_p.I77S	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I78S(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGACTGCAATCTGGATGGAT	0.512																																					p.I53S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T158G	11						.						175.0	143.0	154.0					11																	4615426		2201	4298	6499	4572002	SO:0001583	missense	390037	exon1			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.158T>G	11.37:g.4615426T>G	ENSP00000436453:p.Ile53Ser		4572002	NM_001005169	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387034	0.42308	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.08634	3.07;3.07	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.150415	0.30704	N	0.009051	T	0.29620	0.0739	M	0.82132	2.575	0.36698	D	0.879936	D	0.89917	1.0	D	0.76575	0.988	T	0.40646	-0.9552	9	0.87932	D	0	-8.1494	12.8674	0.57948	0.0:0.0:0.0:1.0	.	53	Q8NGK6	O52I1_HUMAN	S	77;53	ENSP00000409094:I77S;ENSP00000436453:I53S	ENSP00000409094:I77S	I	+	2	0	OR52I1	4572002	0.000000	0.05858	0.918000	0.36340	0.209000	0.24338	0.883000	0.28200	2.208000	0.71279	0.449000	0.29647	ATC		0.512	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169	
OR52I1	390037	broad.mit.edu	37	11	4615635	4615635	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4615635G>A	ENST00000530443.2	+	1	367	c.367G>A	c.(367-369)Gct>Act	p.A123T	OR52I1_ENST00000450052.2_Missense_Mutation_p.A147T	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGACCATGGCTTTTGACCG	0.517																																					p.A123T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	11						.						49.0	43.0	45.0					11																	4615635		2200	4278	6478	4572211	SO:0001583	missense	390037	exon1			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.367G>A	11.37:g.4615635G>A	ENSP00000436453:p.Ala123Thr		4572211	NM_001005169	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145117	0.57044	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.76186	-1.0;-1.0	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000449	D	0.90338	0.6977	H	0.96518	3.835	0.33532	D	0.593752	D	0.89917	1.0	D	0.77004	0.989	D	0.92962	0.6390	9	0.87932	D	0	-10.8267	16.0681	0.80903	0.0:0.0:1.0:0.0	.	123	Q8NGK6	O52I1_HUMAN	T	147;123	ENSP00000409094:A147T;ENSP00000436453:A123T	ENSP00000409094:A147T	A	+	1	0	OR52I1	4572211	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	2.546000	0.45778	2.741000	0.93983	0.555000	0.69702	GCT		0.517	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169	
OR51E1	143503	broad.mit.edu	37	11	4673952	4673952	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4673952C>A	ENST00000396952.5	+	2	846	c.196C>A	c.(196-198)Ctt>Att	p.L66I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L65I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTATATATTTCTTTGCATGCT	0.468																																					p.L66I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196A	11						.						163.0	130.0	141.0					11																	4673952		2201	4298	6499	4630528	SO:0001583	missense	143503	exon2			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.196C>A	11.37:g.4673952C>A	ENSP00000380155:p.Leu66Ile		4630528	NM_152430	A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200663	0.58126	.	.	ENSG00000180785	ENST00000396952	T	0.13778	2.56	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000166	T	0.40015	0.1100	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29305	-1.0016	10	0.66056	D	0.02	.	16.7377	0.85451	0.0:1.0:0.0:0.0	.	65	Q8TCB6	O51E1_HUMAN	I	66	ENSP00000380155:L66I	ENSP00000380155:L66I	L	+	1	0	OR51E1	4630528	0.662000	0.27439	1.000000	0.80357	0.996000	0.88848	0.760000	0.26475	2.530000	0.85305	0.655000	0.94253	CTT		0.468	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430	
OR51E2	81285	broad.mit.edu	37	11	4703157	4703157	+	Missense_Mutation	SNP	C	C	T	rs143376710		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4703157C>T	ENST00000396950.3	-	2	1024	c.785G>A	c.(784-786)cGc>cAc	p.R262H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	262					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.R262H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTTTCCAAAGCGGTGTACCAC	0.522																																					p.R262H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785A	11						.	C	HIS/ARG	0,4402		0,0,2201	161.0	119.0	133.0		785	5.0	1.0	11	dbSNP_134	133	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51E2	NM_030774.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/321	4703157	1,12997	2201	4298	6499	4659733	SO:0001583	missense	81285	exon2			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.785G>A	11.37:g.4703157C>T	ENSP00000380153:p.Arg262His		4659733	NM_030774	B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303602	0.60305	0.0	1.16E-4	ENSG00000167332	ENST00000396950	T	0.37235	1.21	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000236	T	0.63319	0.2501	M	0.88775	2.98	0.21020	N	0.999805	D	0.89917	1.0	D	0.97110	1.0	T	0.60296	-0.7291	10	0.87932	D	0	.	10.5365	0.45007	0.0:0.9112:0.0:0.0888	.	262	Q9H255	O51E2_HUMAN	H	262	ENSP00000380153:R262H	ENSP00000380153:R262H	R	-	2	0	OR51E2	4659733	0.596000	0.26866	0.994000	0.49952	0.984000	0.73092	1.610000	0.36869	2.589000	0.87451	0.655000	0.94253	CGC		0.522	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774	
OR51F1	256892	broad.mit.edu	37	11	4790355	4790355	+	Missense_Mutation	SNP	G	G	A	rs369623823		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4790355G>A	ENST00000380383.1	-	1	813	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	OR51F1_ENST00000343430.3_Missense_Mutation_p.R265C|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265C(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGACCATAGCGATACACCAAG	0.512																																					p.R265C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C793T	11						.	G	CYS/ARG	0,4402		0,0,2201	97.0	87.0	90.0		793	3.4	0.7	11		90	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51F1	NM_001004752.1	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	265/313	4790355	1,12997	2201	4298	6499	4746931	SO:0001583	missense	256892	exon1			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.814C>T	11.37:g.4790355G>A	ENSP00000369744:p.Arg272Cys		4746931	NM_001004752		Missense_Mutation	SNP	ENST00000380383.1	37		.	.	.	.	.	.	.	.	.	.	G	7.811	0.715763	0.15306	0.0	1.16E-4	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00164	8.64;8.64	5.24	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.106625	0.42294	N	0.000721	T	0.00300	0.0009	M	0.92268	3.29	0.09310	N	0.999997	P	0.45715	0.865	B	0.43194	0.411	T	0.25398	-1.0133	10	0.87932	D	0	.	7.2545	0.26168	0.0788:0.0:0.6216:0.2996	.	272	A6NGY5	O51F1_HUMAN	C	265;272	ENSP00000345163:R265C;ENSP00000369744:R272C	ENSP00000345163:R265C	R	-	1	0	OR51F1	4746931	0.004000	0.15560	0.747000	0.31113	0.050000	0.14768	0.526000	0.22971	0.776000	0.33473	0.655000	0.94253	CGC		0.512	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752	
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552																																					p.R194C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C580T	11						.	G	CYS/ARG	0,4402		0,0,2201	82.0	89.0	87.0		580	4.3	0.0	11	dbSNP_134	87	3,8593	3.0+/-9.4	0,3,4295	no	missense	OR51S1	NM_001004758.1	180	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	194/324	4869859	3,12995	2201	4298	6499	4826435	SO:0001583	missense	119692	exon1			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.580C>T	11.37:g.4869859G>A	ENSP00000322754:p.Arg194Cys		4826435	NM_001004758	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409326	0.42715	0.0	3.49E-4	ENSG00000176922	ENST00000322101	T	0.38240	1.15	5.25	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.358179	0.19328	N	0.116980	T	0.59280	0.2182	M	0.89414	3.03	0.09310	N	1	D	0.71674	0.998	P	0.57846	0.828	T	0.57602	-0.7783	10	0.72032	D	0.01	-5.9604	11.4627	0.50219	0.0:0.0:0.5644:0.4356	.	194	Q8NGJ8	O51S1_HUMAN	C	194	ENSP00000322754:R194C	ENSP00000322754:R194C	R	-	1	0	OR51S1	4826435	0.000000	0.05858	0.003000	0.11579	0.714000	0.41099	0.496000	0.22499	1.428000	0.47296	0.655000	0.94253	CGT		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
MMP26	56547	broad.mit.edu	37	11	4903051	4903051	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4903051G>T	ENST00000380390.1	+	2	72				OR51T1_ENST00000322049.1_5'Flank|OR51T1_ENST00000380378.1_Start_Codon_SNP_p.M1I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M1I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TATATAAAATGACTAATAAAA	0.259																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	11						.						9.0	9.0	9.0					11																	4903051		2134	4212	6346	4859627	SO:0001627	intron_variant	401665	exon1			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-144-106247G>T	11.37:g.4903051G>T			4859627	NM_001004759	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	8.728	0.915992	0.17907	.	.	ENSG00000176900	ENST00000380378	T	0.01059	5.39	3.76	0.584	0.17422	.	.	.	.	.	T	0.01387	0.0045	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.48479	-0.9032	6	0.56958	D	0.05	.	3.7843	0.08694	0.2416:0.2042:0.5541:0.0	.	.	.	.	I	1	ENSP00000369738:M1I	ENSP00000369738:M1I	M	+	3	0	OR51T1	4859627	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.343000	0.07791	0.286000	0.22352	0.650000	0.86243	ATG		0.259	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
OR51T1	401665	broad.mit.edu	37	11	4903504	4903504	+	Silent	SNP	C	C	T	rs143185351	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4903504C>T	ENST00000322049.1	+	1	375	c.375C>T	c.(373-375)ttC>ttT	p.F125F	OR51T1_ENST00000380378.1_Silent_p.F152F|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F152F(1)|p.F125F(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGACCGCTTCGTGGCTATCT	0.488													C|||	3	0.000599042	0.0023	0.0	5008	,	,		22774	0.0		0.0	False		,,,				2504	0.0				p.F152F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C456T	11						.	C		21,4381	28.1+/-56.4	0,21,2180	147.0	125.0	133.0		456	2.5	1.0	11	dbSNP_134	133	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	OR51T1	NM_001004759.1		0,23,6476	TT,TC,CC		0.0233,0.4771,0.177		152/355	4903504	23,12975	2201	4298	6499	4860080	SO:0001819	synonymous_variant	401665	exon1			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.375C>T	11.37:g.4903504C>T			4860080	NM_001004759	Q6IFH9	Silent	SNP	ENST00000322049.1	37																																																																																					0.488	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759	
OR51G2	81282	broad.mit.edu	37	11	4936413	4936413	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4936413T>G	ENST00000322013.3	-	1	509	c.481A>C	c.(481-483)Att>Ctt	p.I161L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I161L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGAAAAATGAGTGCTACA	0.463																																					p.I161L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A481C	11						.						78.0	81.0	80.0					11																	4936413		2201	4298	6499	4892989	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.481A>C	11.37:g.4936413T>G	ENSP00000322593:p.Ile161Leu		4892989	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	T	3.379	-0.126870	0.06795	.	.	ENSG00000176893	ENST00000322013	T	0.00020	9.05	5.58	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.270733	0.26507	N	0.023985	T	0.00144	0.0004	N	0.16790	0.44	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.47724	-0.9095	10	0.02654	T	1	.	5.542	0.17043	0.0:0.1468:0.1492:0.704	.	161	Q8NGK0	O51G2_HUMAN	L	161	ENSP00000322593:I161L	ENSP00000322593:I161L	I	-	1	0	OR51G2	4892989	0.000000	0.05858	0.922000	0.36590	0.112000	0.19704	-0.302000	0.08221	1.110000	0.41699	0.533000	0.62120	ATT		0.463	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
OR51G2	81282	broad.mit.edu	37	11	4936570	4936570	+	Missense_Mutation	SNP	G	G	T	rs184375832		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:4936570G>T	ENST00000322013.3	-	1	352	c.324C>A	c.(322-324)ttC>ttA	p.F108L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F108L(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGTGAATGAAAAAGAGCT	0.507																																					p.F108L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C324A	11						.						95.0	87.0	90.0					11																	4936570		2201	4298	6499	4893146	SO:0001583	missense	81282	exon1			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.324C>A	11.37:g.4936570G>T	ENSP00000322593:p.Phe108Leu		4893146	NM_001005238	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582124	0.65992	.	.	ENSG00000176893	ENST00000322013	T	0.00625	6.14	5.58	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.01940	0.0061	L	0.53617	1.68	0.33606	D	0.602926	D	0.76494	0.999	D	0.75484	0.986	T	0.49661	-0.8916	10	0.52906	T	0.07	.	7.4005	0.26960	0.2998:0.0:0.7002:0.0	.	108	Q8NGK0	O51G2_HUMAN	L	108	ENSP00000322593:F108L	ENSP00000322593:F108L	F	-	3	2	OR51G2	4893146	0.031000	0.19500	1.000000	0.80357	0.990000	0.78478	0.393000	0.20817	1.597000	0.50072	0.655000	0.94253	TTC		0.507	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238	
MMP26	56547	broad.mit.edu	37	11	5011871	5011871	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5011871G>T	ENST00000380390.1	+	4	580	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	MMP26_ENST00000300762.1_Missense_Mutation_p.D122Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	122					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D122Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CGCAGTGAAAGACAGTATATA	0.408																																					p.D122Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364T	11						.						112.0	105.0	107.0					11																	5011871		2201	4298	6499	4968447	SO:0001583	missense	56547	exon3			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.364G>T	11.37:g.5011871G>T	ENSP00000369753:p.Asp122Tyr		4968447	NM_021801	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296998	0.23650	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.54279	0.58;0.58	4.12	-3.64	0.04515	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.528680	0.04322	N	0.350974	T	0.54838	0.1883	L	0.46157	1.445	0.09310	N	1	D	0.55385	0.971	P	0.55161	0.77	T	0.53920	-0.8370	10	0.39692	T	0.17	1.7436	6.8296	0.23902	0.4586:0.1236:0.4178:0.0	.	122	Q9NRE1	MMP26_HUMAN	Y	122	ENSP00000369753:D122Y;ENSP00000300762:D122Y	ENSP00000300762:D122Y	D	+	1	0	MMP26	4968447	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.041000	0.13927	-0.712000	0.04988	-0.965000	0.02619	GAC		0.408	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
MMP26	56547	broad.mit.edu	37	11	5013288	5013288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5013288C>A	ENST00000380390.1	+	6	906	c.690C>A	c.(688-690)taC>taA	p.Y230*	MMP26_ENST00000300762.1_Nonsense_Mutation_p.Y230*			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	230					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y230*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACCCCACTTACTGGTATCACG	0.473																																					p.Y230X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C690A	11						.						83.0	76.0	78.0					11																	5013288		2201	4298	6499	4969864	SO:0001587	stop_gained	56547	exon5			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.690C>A	11.37:g.5013288C>A	ENSP00000369753:p.Tyr230*		4969864	NM_021801	Q3MJ78|Q9GZS2|Q9NR87	Nonsense_Mutation	SNP	ENST00000380390.1	37	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023809	0.19433	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	.	.	.	3.79	-1.18	0.09617	.	3.647060	0.01066	N	0.004728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6542	8.903	0.35505	0.0:0.5752:0.0:0.4248	.	.	.	.	X	230	.	ENSP00000300762:Y230X	Y	+	3	2	MMP26	4969864	0.357000	0.24938	0.002000	0.10522	0.099000	0.18886	0.174000	0.16743	-0.459000	0.07013	-0.291000	0.09656	TAC		0.473	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801	
OR51L1	119682	broad.mit.edu	37	11	5020890	5020890	+	Silent	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5020890T>A	ENST00000321543.1	+	1	678	c.678T>A	c.(676-678)acT>acA	p.T226T		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T226T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTAATACTGTGCTGGATA	0.418																																					p.T226T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T678A	11						.						204.0	181.0	189.0					11																	5020890		2201	4298	6499	4977466	SO:0001819	synonymous_variant	119682	exon1			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.678T>A	11.37:g.5020890T>A			4977466	NM_001004755	Q6IFE5	Silent	SNP	ENST00000321543.1	37	CCDS31369.1																																																																																				0.418	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755	
OR52A5	390054	broad.mit.edu	37	11	5153356	5153356	+	Nonsense_Mutation	SNP	G	G	A	rs139667116	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5153356G>A	ENST00000307388.1	-	1	516	c.517C>T	c.(517-519)Cga>Tga	p.R173*		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R173*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACTGTAGTTCGATAGTGTTTC	0.448													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21860	0.0		0.001	False		,,,				2504	0.0				p.R173X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C517T	11						.	G	stop/ARG	0,4402		0,0,2201	122.0	117.0	118.0		517	-1.4	0.0	11	dbSNP_134	118	2,8594	2.2+/-6.3	0,2,4296	yes	stop-gained	OR52A5	NM_001005160.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		173/317	5153356	2,12996	2201	4298	6499	5109932	SO:0001587	stop_gained	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.517C>T	11.37:g.5153356G>A	ENSP00000303469:p.Arg173*		5109932	NM_001005160		Nonsense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359996	0.24598	0.0	2.33E-4	ENSG00000171944	ENST00000307388	.	.	.	5.22	-1.4	0.08968	.	1.505630	0.04679	N	0.412078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7493	0.18138	0.0703:0.1031:0.2667:0.5599	.	.	.	.	X	173	.	ENSP00000303469:R173X	R	-	1	2	OR52A5	5109932	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.700000	0.01905	-0.310000	0.08766	0.655000	0.94253	CGA		0.448	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
OR51B4	79339	broad.mit.edu	37	11	5322877	5322877	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5322877G>T	ENST00000380224.1	-	1	349	c.300C>A	c.(298-300)ttC>ttA	p.F100L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	100					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F100L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATGAATGAAGGATTGGG	0.493																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300A	11						.						152.0	138.0	143.0					11																	5322877		2201	4297	6498	5279453	SO:0001583	missense	79339	exon1			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.300C>A	11.37:g.5322877G>T	ENSP00000369573:p.Phe100Leu		5279453	NM_033179	A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	G	0.781	-0.762157	0.02996	.	.	ENSG00000183251	ENST00000380224	T	0.05382	3.45	0.893	-1.32	0.09201	GPCR, rhodopsin-like superfamily (1);	0.241431	0.29335	N	0.012454	T	0.07052	0.0179	M	0.72576	2.205	0.22531	N	0.999016	B	0.14012	0.009	B	0.15052	0.012	T	0.25606	-1.0127	10	0.87932	D	0	.	3.9796	0.09489	0.5228:0.0:0.4772:0.0	.	100	Q9Y5P0	O51B4_HUMAN	L	100	ENSP00000369573:F100L	ENSP00000369573:F100L	F	-	3	2	OR51B4	5279453	0.696000	0.27757	0.183000	0.23137	0.001000	0.01503	-0.048000	0.11944	-0.562000	0.06086	-0.768000	0.03414	TTC		0.493	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179	
OR51B2	79345	broad.mit.edu	37	11	5345022	5345022	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5345022G>A	ENST00000328813.2	-	1	560	c.506C>T	c.(505-507)tCt>tTt	p.S169F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S169F(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATAACATGAGATTTGCAATA	0.388																																					p.S169F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C506T	11						.						98.0	96.0	97.0					11																	5345022		2201	4297	6498	5301598	SO:0001583	missense	79345	exon1			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.506C>T	11.37:g.5345022G>A	ENSP00000327540:p.Ser169Phe		5301598	NM_033180	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529712	0.27387	.	.	ENSG00000184881	ENST00000328813	T	0.38887	1.11	4.28	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.200626	0.24633	U	0.036871	T	0.63651	0.2529	M	0.90369	3.11	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57219	-0.7849	10	0.87932	D	0	.	3.1132	0.06365	0.0979:0.1734:0.5501:0.1786	.	169	Q9Y5P1	O51B2_HUMAN	F	169	ENSP00000327540:S169F	ENSP00000327540:S169F	S	-	2	0	OR51B2	5301598	0.001000	0.12720	0.202000	0.23494	0.463000	0.32649	1.079000	0.30766	1.051000	0.40369	0.644000	0.83932	TCT		0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR51B6	390058	broad.mit.edu	37	11	5373588	5373588	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5373588T>G	ENST00000380219.1	+	1	851	c.851T>G	c.(850-852)tTt>tGt	p.F284C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	284					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F284C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCCACCTTTTATGAACCCA	0.388																																					p.F284C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T851G	11						.						139.0	133.0	135.0					11																	5373588		2201	4297	6498	5330164	SO:0001583	missense	390058	exon1				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.851T>G	11.37:g.5373588T>G	ENSP00000369568:p.Phe284Cys		5330164	NM_001004750		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861593	0.51482	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.33438	1.41	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.275080	0.26450	N	0.024315	T	0.41650	0.1168	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	P	0.60345	0.873	T	0.28396	-1.0045	10	0.87932	D	0	.	13.8994	0.63794	0.0:0.0:0.0:1.0	.	284	Q9H340	O51B6_HUMAN	C	283;284	ENSP00000369568:F284C	ENSP00000369568:F284C	F	+	2	0	OR51B6	5330164	0.000000	0.05858	0.997000	0.53966	0.897000	0.52465	0.485000	0.22324	2.148000	0.66965	0.528000	0.53228	TTT		0.388	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
OR51M1	390059	broad.mit.edu	37	11	5411032	5411032	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5411032T>G	ENST00000328611.3	+	1	426	c.404T>G	c.(403-405)cTt>cGt	p.L135R	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	135			L -> F (in dbSNP:rs1498468). {ECO:0000269|PubMed:11121057, ECO:0000269|PubMed:14983052}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L135R(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCCTTGTGGCCATC	0.512																																					p.L135R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T404G	11						.						219.0	209.0	212.0					11																	5411032		2060	4241	6301	5367608	SO:0001583	missense	390059	exon1			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.404T>G	11.37:g.5411032T>G	ENSP00000333196:p.Leu135Arg		5367608	NM_001004756	Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	9.360	1.067808	0.20067	.	.	ENSG00000184698	ENST00000328611	T	0.38401	1.14	5.06	1.1	0.20463	.	0.231155	0.22128	U	0.064226	T	0.57755	0.2075	H	0.94925	3.6	0.20403	N	0.999905	.	.	.	.	.	.	T	0.52859	-0.8519	8	0.87932	D	0	.	6.3473	0.21357	0.2186:0.0:0.2475:0.5339	.	.	.	.	R	135	ENSP00000333196:L135R	ENSP00000333196:L135R	L	+	2	0	OR51M1	5367608	0.008000	0.16893	0.994000	0.49952	0.306000	0.27790	0.096000	0.15147	0.369000	0.24510	0.533000	0.62120	CTT		0.512	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
OR51I1	390063	broad.mit.edu	37	11	5461969	5461969	+	Missense_Mutation	SNP	G	G	A	rs373951420		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5461969G>A	ENST00000380211.1	-	1	775	c.776C>T	c.(775-777)gCt>gTt	p.A259V	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	259					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A259V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACAGCAATTATGGG	0.498																																					p.A259V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	11						.	G	VAL/ALA	0,4402		0,0,2201	132.0	114.0	120.0		776	1.1	0.8	11		120	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51I1	NM_001005288.2	64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	259/315	5461969	1,12995	2201	4297	6498	5418545	SO:0001583	missense	390063	exon1			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.776C>T	11.37:g.5461969G>A	ENSP00000369559:p.Ala259Val		5418545	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475858	0.63737	0.0	1.16E-4	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.00039	8.85	5.47	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.365985	0.23487	N	0.047652	T	0.00109	0.0003	N	0.02539	-0.55	0.09310	N	1	P	0.51351	0.944	P	0.55785	0.784	T	0.57808	-0.7747	10	0.66056	D	0.02	.	8.9425	0.35738	0.1158:0.5664:0.3177:0.0	.	259	Q9H343	O51I1_HUMAN	V	256;259	ENSP00000369559:A259V	ENSP00000439622:A256V	A	-	2	0	OR51I1	5418545	0.000000	0.05858	0.807000	0.32361	0.976000	0.68499	-0.947000	0.03901	0.641000	0.30601	0.551000	0.68910	GCT		0.498	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
OR51I1	390063	broad.mit.edu	37	11	5462341	5462341	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5462341A>G	ENST00000380211.1	-	1	403	c.404T>C	c.(403-405)gTc>gCc	p.V135A	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	135					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V135A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACAGTGACATAGCGTAA	0.473																																					p.V135A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T404C	11						.						151.0	116.0	128.0					11																	5462341		2201	4297	6498	5418917	SO:0001583	missense	390063	exon1			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.404T>C	11.37:g.5462341A>G	ENSP00000369559:p.Val135Ala		5418917	NM_001005288	B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	A	0.092	-1.166186	0.01673	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.18960	2.18	5.74	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.519505	0.17552	N	0.170149	T	0.04227	0.0117	N	0.00098	-2.145	0.21527	N	0.999658	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	10	0.02654	T	1	.	13.6054	0.62044	0.0756:0.0:0.9244:0.0	.	135	Q9H343	O51I1_HUMAN	A	120;132;135	ENSP00000369559:V135A	ENSP00000348350:V120A	V	-	2	0	OR51I1	5418917	0.105000	0.21958	0.995000	0.50966	0.265000	0.26407	2.601000	0.46249	1.454000	0.47793	-0.288000	0.09946	GTC		0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288	
OR51I2	390064	broad.mit.edu	37	11	5474755	5474755	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5474755C>A	ENST00000341449.2	+	1	118	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	13					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13I(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCATTCTTCCTCCTGACTGG	0.498																																					p.L13I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37A	11						.						134.0	113.0	120.0					11																	5474755		2201	4297	6498	5431331	SO:0001583	missense	390064	exon1			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.37C>A	11.37:g.5474755C>A	ENSP00000341987:p.Leu13Ile		5431331	NM_001004754	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	9.532	1.111197	0.20714	.	.	ENSG00000187918	ENST00000341449	T	0.00540	6.7	5.58	3.71	0.42584	.	0.104093	0.43260	D	0.000589	T	0.00271	0.0008	N	0.02685	-0.53	0.25597	N	0.986639	B	0.10296	0.003	B	0.08055	0.003	T	0.41945	-0.9480	10	0.26408	T	0.33	.	7.4559	0.27266	0.297:0.6267:0.0:0.0763	.	13	Q9H344	O51I2_HUMAN	I	13	ENSP00000341987:L13I	ENSP00000341987:L13I	L	+	1	0	OR51I2	5431331	0.000000	0.05858	1.000000	0.80357	0.920000	0.55202	-0.956000	0.03865	0.900000	0.36469	0.655000	0.94253	CTC		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754	
OR52D1	390066	broad.mit.edu	37	11	5510073	5510073	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5510073C>T	ENST00000322641.5	+	1	159	c.137C>T	c.(136-138)gCt>gTt	p.A46V	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	46					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A46V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGGAAATGCTGCCCTCATC	0.522																																					p.A46V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137T	11						.						284.0	221.0	242.0					11																	5510073		2201	4297	6498	5466649	SO:0001583	missense	390066	exon1			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.137C>T	11.37:g.5510073C>T	ENSP00000326232:p.Ala46Val		5466649	NM_001005163	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	2.432	-0.330523	0.05314	.	.	ENSG00000181609	ENST00000322641	T	0.00949	5.51	5.37	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.786081	0.11516	N	0.556195	T	0.00496	0.0016	N	0.02539	-0.55	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46527	-0.9185	10	0.23302	T	0.38	.	3.9807	0.09493	0.0:0.4821:0.1696:0.3483	.	46	Q9H346	O52D1_HUMAN	V	46	ENSP00000326232:A46V	ENSP00000326232:A46V	A	+	2	0	OR52D1	5466649	0.000000	0.05858	0.716000	0.30569	0.467000	0.32768	-0.845000	0.04340	0.848000	0.35191	0.650000	0.86243	GCT		0.522	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
OR52D1	390066	broad.mit.edu	37	11	5510308	5510308	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5510308T>A	ENST00000322641.5	+	1	394	c.372T>A	c.(370-372)gaT>gaA	p.D124E	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D124E(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTTTGATAGGTATGTGG	0.458																																					p.D124E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T372A	11						.						182.0	168.0	173.0					11																	5510308		2201	4297	6498	5466884	SO:0001583	missense	390066	exon1			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.372T>A	11.37:g.5510308T>A	ENSP00000326232:p.Asp124Glu		5466884	NM_001005163	B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629167	0.67015	.	.	ENSG00000181609	ENST00000322641	T	0.51817	0.69	5.58	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.81498	0.4835	H	0.99909	4.93	0.32876	D	0.509845	D	0.89917	1.0	D	0.83275	0.996	D	0.87315	0.2314	10	0.87932	D	0	.	9.3884	0.38359	0.0:0.1497:0.0:0.8503	.	124	Q9H346	O52D1_HUMAN	E	124	ENSP00000326232:D124E	ENSP00000326232:D124E	D	+	3	2	OR52D1	5466884	0.388000	0.25197	0.924000	0.36721	0.883000	0.51084	-0.153000	0.10144	1.143000	0.42306	0.533000	0.62120	GAT		0.458	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
UBQLN3	50613	broad.mit.edu	37	11	5528988	5528988	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5528988C>A	ENST00000311659.4	-	2	1948	c.1801G>T	c.(1801-1803)Gat>Tat	p.D601Y	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	601								p.D601Y(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACTAAATCTTGCAGCATA	0.542																																					p.D601Y	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1801T	11						.						60.0	65.0	64.0					11																	5528988		2201	4297	6498	5485564	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1801G>T	11.37:g.5528988C>A	ENSP00000347997:p.Asp601Tyr		5485564	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	0.679	-0.798958	0.02841	.	.	ENSG00000175520	ENST00000311659	T	0.41758	0.99	5.02	0.997	0.19851	UBA-like (1);	0.635267	0.13901	N	0.354881	T	0.19604	0.0471	N	0.22421	0.69	0.09310	N	1	P	0.42785	0.79	B	0.28916	0.096	T	0.13469	-1.0508	10	0.62326	D	0.03	-0.3937	4.1391	0.10184	0.323:0.5032:0.0:0.1738	.	601	Q9H347	UBQL3_HUMAN	Y	601	ENSP00000347997:D601Y	ENSP00000347997:D601Y	D	-	1	0	UBQLN3	5485564	0.396000	0.25262	0.001000	0.08648	0.141000	0.21300	1.527000	0.35975	0.096000	0.17463	0.655000	0.94253	GAT		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
UBQLN3	50613	broad.mit.edu	37	11	5529738	5529738	+	Missense_Mutation	SNP	C	C	T	rs201503283		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5529738C>T	ENST00000311659.4	-	2	1198	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	351								p.E351K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGTTCTCGTGTAATTGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		20438	0.0		0.001	False		,,,				2504	0.0				p.E351K	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1051A	11						.						113.0	114.0	113.0					11																	5529738		2201	4297	6498	5486314	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1051G>A	11.37:g.5529738C>T	ENSP00000347997:p.Glu351Lys		5486314	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.284	0.420577	0.11928	.	.	ENSG00000175520	ENST00000311659	T	0.41400	1.0	5.39	4.47	0.54385	.	0.358239	0.20243	N	0.096253	T	0.38639	0.1048	M	0.80982	2.52	0.09310	N	1	P	0.41710	0.76	B	0.19666	0.026	T	0.50608	-0.8808	10	0.87932	D	0	-7.9073	12.0289	0.53386	0.0:0.8268:0.1732:0.0	.	351	Q9H347	UBQL3_HUMAN	K	351	ENSP00000347997:E351K	ENSP00000347997:E351K	E	-	1	0	UBQLN3	5486314	0.008000	0.16893	0.010000	0.14722	0.002000	0.02628	2.228000	0.42981	1.489000	0.48450	0.655000	0.94253	GAG		0.493	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
OR52H1	390067	broad.mit.edu	37	11	5566564	5566564	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5566564G>T	ENST00000322653.4	-	1	215	c.190C>A	c.(190-192)Cat>Aat	p.H64N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H64N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGTTCATGAAGACTATGC	0.468																																					p.H64N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190A	11						.						90.0	75.0	80.0					11																	5566564		2201	4297	6498	5523140	SO:0001583	missense	390067	exon1			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.190C>A	11.37:g.5566564G>T	ENSP00000326259:p.His64Asn		5523140	NM_001005289	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765579	0.69878	.	.	ENSG00000181616	ENST00000322653	T	0.15952	2.38	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.46014	0.1371	H	0.94345	3.525	0.38717	D	0.953359	D	0.56287	0.975	P	0.51453	0.67	T	0.66085	-0.6011	10	0.87932	D	0	.	17.7507	0.88432	0.0:0.0:1.0:0.0	.	64	Q8NGJ2	O52H1_HUMAN	N	64	ENSP00000326259:H64N	ENSP00000326259:H64N	H	-	1	0	OR52H1	5523140	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	6.421000	0.73353	2.539000	0.85634	0.650000	0.86243	CAT		0.468	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289	
TRIM6	117854	broad.mit.edu	37	11	5632525	5632525	+	Missense_Mutation	SNP	C	C	A	rs143334533		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5632525C>A	ENST00000278302.5	+	8	1560	c.1420C>A	c.(1420-1422)Cct>Act	p.P474T	HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.P299T|TRIM6-TRIM34_ENST00000354852.5_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Missense_Mutation_p.P502T|TRIM6_ENST00000445329.1_Missense_Mutation_p.P299T|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000507320.1_Missense_Mutation_p.P299T|TRIM6_ENST00000380107.1_Missense_Mutation_p.P448T|TRIM6_ENST00000515022.1_Missense_Mutation_p.P299T	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	474	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.P502T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATATTTTAATCCTTGCAACTG	0.418																																					p.P502T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1504A	11						.	C	THR/PRO,,THR/PRO,THR/PRO,THR/PRO	1,4401	2.1+/-5.4	0,1,2200	123.0	123.0	123.0		1504,,895,895,1420	4.1	1.0	11	dbSNP_134	123	0,8594		0,0,4297	yes	missense,intron,missense,missense,missense	TRIM6,TRIM6-TRIM34	NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4	38,,38,38,38	0,1,6497	AA,AC,CC		0.0,0.0227,0.0077	,,,,	502/517,,299/314,299/314,474/489	5632525	1,12995	2201	4297	6498	5589101	SO:0001583	missense	117854	exon8			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1420C>A	11.37:g.5632525C>A	ENSP00000278302:p.Pro474Thr		5589101	NM_001003818	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519927	0.64634	2.27E-4	0.0	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.81221	0.4777	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.81531	-0.0890	9	0.42905	T	0.14	.	14.5622	0.68148	0.0:1.0:0.0:0.0	.	448;502;474	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	T	474;299;448;502;299;381;299;299	ENSP00000278302:P474T;ENSP00000427704:P299T;ENSP00000369450:P448T;ENSP00000369440:P502T;ENSP00000399215:P299T;ENSP00000421802:P299T;ENSP00000421079:P299T	ENSP00000278302:P474T	P	+	1	0	TRIM6	5589101	0.968000	0.33430	1.000000	0.80357	0.880000	0.50808	1.241000	0.32743	2.573000	0.86826	0.491000	0.48974	CCT		0.418	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM22	10346	broad.mit.edu	37	11	5717856	5717856	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5717856C>T	ENST00000379965.3	+	2	671	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	132					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R132C(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCAAACATTCCGCATAAACGA	0.448																																					p.R132C	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C394T	11						.						71.0	74.0	73.0					11																	5717856		2033	4223	6256	5674432	SO:0001583	missense	10346	exon2			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.394C>T	11.37:g.5717856C>T	ENSP00000369299:p.Arg132Cys		5674432	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247016	0.39697	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.67	1.7	0.24286	Zinc finger, B-box (2);	.	.	.	.	T	0.33411	0.0862	N	0.03608	-0.345	0.09310	N	1	B;P;P	0.52170	0.017;0.951;0.917	B;P;P	0.48901	0.017;0.594;0.56	T	0.15607	-1.0431	9	0.87932	D	0	.	6.1154	0.20124	0.1516:0.6902:0.0:0.1582	.	132;132;132	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	C	132	ENSP00000369299:R132C;ENSP00000400417:R132C;ENSP00000393250:R132C;ENSP00000396849:R132C	ENSP00000369299:R132C	R	+	1	0	TRIM22	5674432	0.000000	0.05858	0.001000	0.08648	0.196000	0.23810	1.027000	0.30115	0.157000	0.19338	0.461000	0.40582	CGC		0.448	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
OR52E8	390079	broad.mit.edu	37	11	5878108	5878108	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5878108C>A	ENST00000537935.1	-	1	856	c.825G>T	c.(823-825)caG>caT	p.Q275H	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q275H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTATATACTGTGGGATAT	0.408																																					p.Q275H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G825T	11						.						99.0	115.0	110.0					11																	5878108		2145	4296	6441	5834684	SO:0001583	missense	390079	exon1			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.825G>T	11.37:g.5878108C>A	ENSP00000444054:p.Gln275His		5834684	NM_001005168	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.908860	0.00508	.	.	ENSG00000183269	ENST00000537935	T	0.00123	8.7	4.12	-7.15	0.01521	GPCR, rhodopsin-like superfamily (1);	1.115960	0.06930	N	0.810906	T	0.00039	0.0001	N	0.01473	-0.845	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.06232	-1.0838	10	0.11182	T	0.66	.	5.1731	0.15120	0.1042:0.4617:0.1056:0.3285	.	275	Q6IFG1	O52E8_HUMAN	H	275	ENSP00000444054:Q275H	ENSP00000444054:Q275H	Q	-	3	2	OR52E8	5834684	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.197000	0.00042	-1.112000	0.02984	-1.328000	0.01277	CAG		0.408	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168	
OR52E4	390081	broad.mit.edu	37	11	5905728	5905728	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5905728C>A	ENST00000316987.2	+	1	228	c.206C>A	c.(205-207)tCt>tAt	p.S69Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S69Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGTTGTCTATGATTGAT	0.458																																					p.S69Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206A	11						.						186.0	158.0	168.0					11																	5905728		2201	4296	6497	5862304	SO:0001583	missense	390081	exon1			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.206C>A	11.37:g.5905728C>A	ENSP00000321426:p.Ser69Tyr		5862304	NM_001005165	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223604	0.58668	.	.	ENSG00000180974	ENST00000316987	T	0.12361	2.69	5.04	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.145220	0.32028	N	0.006694	T	0.44456	0.1294	H	0.96269	3.795	0.32262	N	0.570061	D	0.59357	0.985	D	0.63033	0.91	T	0.64884	-0.6302	10	0.87932	D	0	.	8.5746	0.33590	0.0:0.8248:0.0:0.1752	.	69	Q8NGH9	O52E4_HUMAN	Y	69	ENSP00000321426:S69Y	ENSP00000321426:S69Y	S	+	2	0	OR52E4	5862304	0.002000	0.14202	0.957000	0.39632	0.994000	0.84299	1.226000	0.32563	1.345000	0.45676	0.643000	0.83706	TCT		0.458	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
OR52E4	390081	broad.mit.edu	37	11	5906119	5906119	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5906119C>A	ENST00000316987.2	+	1	619	c.597C>A	c.(595-597)atC>atA	p.I199I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I199I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAACATAATCTATGGGCTCA	0.463																																					p.I199I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C597A	11						.						259.0	227.0	237.0					11																	5906119		2201	4296	6497	5862695	SO:0001819	synonymous_variant	390081	exon1			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.597C>A	11.37:g.5906119C>A			5862695	NM_001005165	Q6IFG0	Silent	SNP	ENST00000316987.2	37	CCDS31401.1																																																																																				0.463	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
OR52E4	390081	broad.mit.edu	37	11	5906298	5906298	+	Missense_Mutation	SNP	C	C	A	rs201423767		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5906298C>A	ENST00000316987.2	+	1	798	c.776C>A	c.(775-777)tCt>tAt	p.S259Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S259Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATTTTTTTCTTTTATGACA	0.428																																					p.S259Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776A	11						.						207.0	189.0	195.0					11																	5906298		2201	4296	6497	5862874	SO:0001583	missense	390081	exon1			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.776C>A	11.37:g.5906298C>A	ENSP00000321426:p.Ser259Tyr		5862874	NM_001005165	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279990	0.59758	.	.	ENSG00000180974	ENST00000316987	T	0.00115	8.71	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.142319	0.32655	N	0.005815	T	0.00784	0.0026	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.54833	-0.8234	10	0.87932	D	0	.	16.0581	0.80820	0.0:1.0:0.0:0.0	.	259	Q8NGH9	O52E4_HUMAN	Y	259	ENSP00000321426:S259Y	ENSP00000321426:S259Y	S	+	2	0	OR52E4	5862874	0.001000	0.12720	1.000000	0.80357	0.958000	0.62258	1.414000	0.34736	2.660000	0.90430	0.643000	0.83706	TCT		0.428	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
OR56A3	390083	broad.mit.edu	37	11	5968959	5968959	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:5968959T>C	ENST00000329564.6	+	1	390	c.383T>C	c.(382-384)gTa>gCa	p.V128A	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V128A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCGTTATGTAGCCATCTGC	0.453																																					p.V128A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T383C	11						.						178.0	169.0	172.0					11																	5968959		2201	4296	6497	5925535	SO:0001583	missense	390083	exon1				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.383T>C	11.37:g.5968959T>C	ENSP00000331572:p.Val128Ala		5925535	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652758	0.29336	.	.	ENSG00000184478	ENST00000329564	T	0.20738	2.05	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.363846	0.14725	U	0.302113	T	0.36276	0.0961	M	0.82193	2.58	0.09310	N	0.999993	P	0.39903	0.694	B	0.43018	0.405	T	0.34925	-0.9809	10	0.87932	D	0	-4.8374	13.9713	0.64242	0.0:0.0:0.0:1.0	.	128	Q8NH54	O56A3_HUMAN	A	128	ENSP00000331572:V128A	ENSP00000331572:V128A	V	+	2	0	OR56A3	5925535	0.542000	0.26426	0.048000	0.18961	0.033000	0.12548	4.395000	0.59678	2.170000	0.68504	0.529000	0.55759	GTA		0.453	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR52L1	338751	broad.mit.edu	37	11	6008035	6008035	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6008035C>T	ENST00000332249.4	-	1	180	c.126G>A	c.(124-126)caG>caA	p.Q42Q		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATCCAGTGCTGGCTTTCCT	0.493																																					p.Q42Q	Melanoma(121;653 1666 10547 22796 51255)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G126A	11						.						57.0	57.0	57.0					11																	6008035		1921	4140	6061	5964611	SO:0001819	synonymous_variant	338751	exon1			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.126G>A	11.37:g.6008035C>T			5964611	NM_001005173	B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	CCDS44529.1																																																																																				0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173	
OR56A4	120793	broad.mit.edu	37	11	6023558	6023558	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6023558G>T	ENST00000330728.4	-	1	866	c.821C>A	c.(820-822)tCt>tAt	p.S274Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S274Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATATAAAAGAATAGGAGAT	0.463																																					p.S274Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C821A	11						.						36.0	36.0	36.0					11																	6023558		2201	4296	6497	5980134	SO:0001583	missense	120793	exon1			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.821C>A	11.37:g.6023558G>T	ENSP00000328215:p.Ser274Tyr		5980134	NM_001005179	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.553596	0.00918	.	.	ENSG00000183389	ENST00000330728	T	0.00152	8.66	3.72	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.518300	0.13961	U	0.350853	T	0.00210	0.0006	M	0.81497	2.545	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.32955	-0.9887	10	0.62326	D	0.03	.	8.8874	0.35411	0.0:0.1637:0.6667:0.1696	.	222	Q8NGH8	O56A4_HUMAN	Y	274	ENSP00000328215:S274Y	ENSP00000328215:S274Y	S	-	2	0	OR56A4	5980134	0.000000	0.05858	0.076000	0.20297	0.082000	0.17680	-0.143000	0.10296	0.327000	0.23409	-0.127000	0.14921	TCT		0.463	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
OR56A1	120796	broad.mit.edu	37	11	6048164	6048164	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6048164G>T	ENST00000316650.5	-	1	807	c.771C>A	c.(769-771)ttC>ttA	p.F257L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F257L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGCTGAAGAAAAGAATGA	0.502																																					p.F257L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C771A	11						.						77.0	75.0	76.0					11																	6048164		2201	4296	6497	6004740	SO:0001583	missense	120796	exon1			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.771C>A	11.37:g.6048164G>T	ENSP00000321246:p.Phe257Leu		6004740	NM_001001917	B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890836	0.52014	.	.	ENSG00000180934	ENST00000316650	T	0.00013	9.23	4.27	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000417	T	0.00144	0.0004	N	0.25144	0.715	0.26246	N	0.978793	D	0.89917	1.0	D	0.91635	0.999	T	0.50775	-0.8788	10	0.22706	T	0.39	.	4.774	0.13169	0.2763:0.2438:0.4799:0.0	.	257	Q8NGH5	O56A1_HUMAN	L	257	ENSP00000321246:F257L	ENSP00000321246:F257L	F	-	3	2	OR56A1	6004740	0.237000	0.23815	0.987000	0.45799	0.807000	0.45602	0.465000	0.22004	0.184000	0.20083	-0.150000	0.13652	TTC		0.502	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
CNGA4	1262	broad.mit.edu	37	11	6261486	6261486	+	Silent	SNP	C	C	T	rs201074130	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6261486C>T	ENST00000379936.2	+	4	577	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	154					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.F154F(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGAGGCCTTCGACCGCACAG	0.587													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18214	0.0		0.001	False		,,,				2504	0.0				p.F154F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462T	11						.	C		0,4402		0,0,2201	74.0	81.0	79.0		462	-6.3	0.9	11		79	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous	CNGA4	NM_001037329.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		154/576	6261486	3,12991	2201	4296	6497	6218062	SO:0001819	synonymous_variant	1262	exon4			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.462C>T	11.37:g.6261486C>T			6218062	NM_001037329		Silent	SNP	ENST00000379936.2	37	CCDS31408.1																																																																																				0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
APBB1	322	broad.mit.edu	37	11	6422619	6422619	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6422619C>A	ENST00000609360.1	-	11	1643	c.1544G>T	c.(1543-1545)gGa>gTa	p.G515V	APBB1_ENST00000299402.6_Missense_Mutation_p.G513V|APBB1_ENST00000609331.1_Missense_Mutation_p.G280V|APBB1_ENST00000608645.1_Missense_Mutation_p.G256V|APBB1_ENST00000608394.1_Missense_Mutation_p.G256V|APBB1_ENST00000530885.1_Missense_Mutation_p.G293V|APBB1_ENST00000311051.3_Missense_Mutation_p.G513V|APBB1_ENST00000389906.2_Missense_Mutation_p.G515V|APBB1_ENST00000608655.1_Missense_Mutation_p.G295V|APBB1_ENST00000529519.1_Missense_Mutation_p.G40V|APBB1_ENST00000608704.1_Missense_Mutation_p.G256V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	515					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.G513V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGGGAGAGTCCATTTACCAA	0.552																																					p.G515V	GBM(147;1810 2556 5672 39622)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544T	11						.						75.0	68.0	71.0					11																	6422619		2201	4296	6497	6379195	SO:0001583	missense	322	exon10			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1544G>T	11.37:g.6422619C>A	ENSP00000477213:p.Gly515Val		6379195	NM_001164	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	19.80	3.895497	0.72639	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.18016	2.49;2.49;2.5;2.24	4.94	4.94	0.65067	.	0.244366	0.33875	N	0.004472	T	0.32133	0.0819	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.994;0.968	D;P;P;P	0.91635	0.999;0.879;0.865;0.79	T	0.01626	-1.1309	10	0.28530	T	0.3	-7.7601	15.6382	0.76973	0.0:1.0:0.0:0.0	.	118;515;293;513	B7Z4M4;O00213;B7Z2Y0;O00213-2	.;APBB1_HUMAN;.;.	V	513;513;515;364;256;280;293	ENSP00000299402:G513V;ENSP00000311912:G513V;ENSP00000374556:G515V;ENSP00000433338:G293V	ENSP00000299402:G513V	G	-	2	0	APBB1	6379195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.054000	0.57434	2.269000	0.75478	0.655000	0.94253	GGA		0.552	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
TRIM3	10612	broad.mit.edu	37	11	6470405	6470405	+	Missense_Mutation	SNP	G	G	T	rs370951694		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6470405G>T	ENST00000525074.1	-	12	2482	c.2088C>A	c.(2086-2088)ttC>ttA	p.F696L	TRIM3_ENST00000536344.1_Missense_Mutation_p.F577L|TRIM3_ENST00000345851.3_Missense_Mutation_p.F696L|TRIM3_ENST00000537602.1_Missense_Mutation_p.F618L|TRIM3_ENST00000359518.3_Missense_Mutation_p.F696L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	696					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F696L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562																																					p.F696L	Melanoma(6;5 510 1540 25169 29084)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2088A	11						.						91.0	79.0	83.0					11																	6470405		2201	4296	6497	6426981	SO:0001583	missense	10612	exon13			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.2088C>A	11.37:g.6470405G>T	ENSP00000433102:p.Phe696Leu		6426981	NM_006458	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645872	0.47258	.	.	ENSG00000110171	ENST00000525074;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.8	1.21	0.21127	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.81014	0.4735	M	0.72118	2.19	0.48452	D	0.999655	B;B	0.31256	0.139;0.316	B;P	0.48454	0.177;0.578	T	0.75593	-0.3264	10	0.46703	T	0.11	-16.8289	6.992	0.24761	0.725:0.0:0.275:0.0	.	577;696	F5H2Q8;O75382	.;TRIM3_HUMAN	L	696;696;685;618;696;577	ENSP00000433102:F696L;ENSP00000340797:F696L;ENSP00000441091:F618L;ENSP00000352508:F696L;ENSP00000445460:F577L	ENSP00000337094:F685L	F	-	3	2	TRIM3	6426981	0.980000	0.34600	0.999000	0.59377	0.997000	0.91878	0.320000	0.19540	0.160000	0.19432	0.563000	0.77884	TTC		0.562	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458	
DNHD1	144132	broad.mit.edu	37	11	6524034	6524034	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6524034C>A	ENST00000527990.2	+	2	798	c.798C>A	c.(796-798)agC>agA	p.S266R	DNHD1_ENST00000254579.6_Missense_Mutation_p.S266R|DNHD1_ENST00000354685.3_Missense_Mutation_p.S266R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	266					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.S266R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAAGAGCAGCACCGGCTTTT	0.468																																					p.S266R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C798A	11						.						104.0	87.0	92.0					11																	6524034		2201	4296	6497	6480610	SO:0001583	missense	144132	exon4			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.798C>A	11.37:g.6524034C>A	ENSP00000436180:p.Ser266Arg		6480610	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821254	0.32237	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28069	1.63;2.6;1.63	5.64	-0.238	0.13055	.	0.496507	0.21739	N	0.069857	T	0.32496	0.0831	L	0.42245	1.32	0.09310	N	1	B;D	0.59357	0.139;0.985	B;P	0.55391	0.058;0.775	T	0.15809	-1.0424	10	0.62326	D	0.03	.	5.4677	0.16652	0.0:0.5381:0.1424:0.3195	.	266;266	Q96M86;Q96M86-4	DNHD1_HUMAN;.	R	266	ENSP00000254579:S266R;ENSP00000346716:S266R;ENSP00000436180:S266R	ENSP00000254579:S266R	S	+	3	2	DNHD1	6480610	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.206000	0.09398	-0.321000	0.08627	0.563000	0.77884	AGC		0.468	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DNHD1	144132	broad.mit.edu	37	11	6587953	6587953	+	Missense_Mutation	SNP	G	G	T	rs372317431		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6587953G>T	ENST00000527990.2	+	33	11343	c.11343G>T	c.(11341-11343)aaG>aaT	p.K3781N	DNHD1_ENST00000254579.6_Missense_Mutation_p.K3781N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3781					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.K3781N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGGACCTAAAGATCAGAGCCC	0.537																																					p.K3781N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11343T	11						.						53.0	56.0	55.0					11																	6587953		2012	4188	6200	6544529	SO:0001583	missense	144132	exon35			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11343G>T	11.37:g.6587953G>T	ENSP00000436180:p.Lys3781Asn		6544529	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657456	0.29425	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.26223	1.75;1.75	4.52	-3.64	0.04515	.	0.694941	0.12509	N	0.462610	T	0.11836	0.0288	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33694	0.421;0.421;0.421	B;B;B	0.27500	0.08;0.08;0.08	T	0.15292	-1.0442	10	0.37606	T	0.19	-3.3849	6.6029	0.22710	0.5544:0.2557:0.1899:0.0	.	2869;49;3781	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	N	3781;3781;49;49	ENSP00000254579:K3781N;ENSP00000436180:K3781N	ENSP00000254579:K3781N	K	+	3	2	DNHD1	6544529	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-0.352000	0.07701	-0.604000	0.05760	0.655000	0.94253	AAG		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DNHD1	144132	broad.mit.edu	37	11	6588357	6588357	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6588357T>G	ENST00000527990.2	+	34	11618	c.11618T>G	c.(11617-11619)cTt>cGt	p.L3873R	DNHD1_ENST00000254579.6_Missense_Mutation_p.L3873R			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3873					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.L3873R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCTGCCACTTTTCTGTATG	0.537																																					p.L3873R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11618G	11						.						92.0	93.0	92.0					11																	6588357		1964	4155	6119	6544933	SO:0001583	missense	144132	exon36			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11618T>G	11.37:g.6588357T>G	ENSP00000436180:p.Leu3873Arg		6544933	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	8.813	0.935635	0.18206	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.27402	1.67;1.67	4.78	-0.618	0.11576	.	0.915968	0.09099	N	0.848815	T	0.23014	0.0556	N	0.24115	0.695	0.09310	N	0.999991	P;P;P	0.40476	0.718;0.718;0.718	B;B;B	0.42422	0.387;0.293;0.293	T	0.25467	-1.0131	10	0.87932	D	0	0.1716	8.2719	0.31849	0.0:0.3746:0.0:0.6254	.	2961;141;3873	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	R	3873;3873;141;141	ENSP00000254579:L3873R;ENSP00000436180:L3873R	ENSP00000254579:L3873R	L	+	2	0	DNHD1	6544933	0.374000	0.25081	0.545000	0.28153	0.479000	0.33129	0.314000	0.19432	-0.273000	0.09246	0.459000	0.35465	CTT		0.537	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DCHS1	8642	broad.mit.edu	37	11	6655082	6655082	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6655082C>T	ENST00000299441.3	-	4	2567	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	719	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R719Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGGAGAGTCGCCCATGGGA	0.592																																					p.R719Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2156A	11						.						66.0	71.0	69.0					11																	6655082		2201	4296	6497	6611658	SO:0001583	missense	8642	exon4			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2156G>A	11.37:g.6655082C>T	ENSP00000299441:p.Arg719Gln		6611658	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.009104	0.35415	.	.	ENSG00000166341	ENST00000299441	T	0.52526	0.66	4.64	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.398969	0.16571	N	0.208638	T	0.32255	0.0823	L	0.38649	1.16	0.38092	D	0.936996	B	0.16396	0.017	B	0.11329	0.006	T	0.12218	-1.0556	10	0.11794	T	0.64	.	8.2209	0.31541	0.0:0.7311:0.1737:0.0952	.	719	Q96JQ0	PCD16_HUMAN	Q	719	ENSP00000299441:R719Q	ENSP00000299441:R719Q	R	-	2	0	DCHS1	6611658	0.061000	0.20836	1.000000	0.80357	0.997000	0.91878	0.665000	0.25083	2.410000	0.81850	0.561000	0.74099	CGA		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR6A2	8590	broad.mit.edu	37	11	6816052	6816052	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6816052G>A	ENST00000332601.3	-	1	1076	c.888C>T	c.(886-888)tgC>tgT	p.C296C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C296C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATTGCGCAGGCAGTAAATGA	0.483																																					p.C296C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	11						.						140.0	132.0	135.0					11																	6816052		2201	4296	6497	6772628	SO:0001819	synonymous_variant	8590	exon1			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.888C>T	11.37:g.6816052G>A			6772628	NM_003696	Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	CCDS7772.1																																																																																				0.483	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696	
OR10A2	341276	broad.mit.edu	37	11	6891362	6891362	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6891362G>T	ENST00000307322.4	+	1	439	c.377G>T	c.(376-378)aGg>aTg	p.R126M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R126M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAACCAAAGGACTCGTGCC	0.532																																					p.R126M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377T	11						.						159.0	150.0	153.0					11																	6891362		2201	4296	6497	6847938	SO:0001583	missense	341276	exon1			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.377G>T	11.37:g.6891362G>T	ENSP00000303862:p.Arg126Met		6847938	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	g	7.958	0.746335	0.15710	.	.	ENSG00000170790	ENST00000307322	T	0.01599	4.74	3.99	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.509728	0.19729	N	0.107382	T	0.04497	0.0123	M	0.72479	2.2	0.09310	N	1	P	0.36222	0.544	P	0.44477	0.451	T	0.08249	-1.0731	10	0.72032	D	0.01	.	9.4715	0.38844	0.1094:0.0:0.8906:0.0	.	126	Q9H208	O10A2_HUMAN	M	126	ENSP00000303862:R126M	ENSP00000303862:R126M	R	+	2	0	OR10A2	6847938	0.000000	0.05858	0.998000	0.56505	0.079000	0.17450	-0.847000	0.04331	2.222000	0.72286	0.650000	0.86243	AGG		0.532	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
OR10A2	341276	broad.mit.edu	37	11	6891840	6891840	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6891840G>T	ENST00000307322.4	+	1	917	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K285N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACGAGGTGAAGAATGCCCTCA	0.453																																					p.K285N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G855T	11						.						103.0	100.0	101.0					11																	6891840		2201	4296	6497	6848416	SO:0001583	missense	341276	exon1			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.855G>T	11.37:g.6891840G>T	ENSP00000303862:p.Lys285Asn		6848416	NM_001004460	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.893894	0.33442	.	.	ENSG00000170790	ENST00000307322	T	0.40756	1.02	4.18	-1.12	0.09808	.	0.000000	0.64402	D	0.000008	T	0.55257	0.1909	M	0.70787	2.145	0.30214	N	0.797439	D	0.89917	1.0	D	0.77557	0.99	T	0.54860	-0.8230	10	0.62326	D	0.03	.	8.0966	0.30833	0.5882:0.0:0.4118:0.0	.	285	Q9H208	O10A2_HUMAN	N	285	ENSP00000303862:K285N	ENSP00000303862:K285N	K	+	3	2	OR10A2	6848416	0.001000	0.12720	0.997000	0.53966	0.347000	0.29111	0.159000	0.16442	-0.063000	0.13065	-0.141000	0.14075	AAG		0.453	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
OR10A4	283297	broad.mit.edu	37	11	6898764	6898764	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6898764A>G	ENST00000379829.2	+	1	909	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	296					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K296E(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCAAGGAATAAAGAAGTGAA	0.483																																					p.K296E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A886G	11						.						105.0	104.0	105.0					11																	6898764		2201	4296	6497	6855340	SO:0001583	missense	283297	exon1			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.886A>G	11.37:g.6898764A>G	ENSP00000369157:p.Lys296Glu		6855340	NM_207186	B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	a	11.62	1.691562	0.30052	.	.	ENSG00000170782	ENST00000379829	T	0.44083	0.93	3.9	3.9	0.45041	.	0.292228	0.24742	N	0.035977	T	0.39886	0.1095	M	0.70787	2.145	0.09310	N	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.40590	-0.9555	10	0.72032	D	0.01	.	7.5996	0.28069	0.7827:0.2173:0.0:0.0	.	296	Q9H209	O10A4_HUMAN	E	296	ENSP00000369157:K296E	ENSP00000369157:K296E	K	+	1	0	OR10A4	6855340	0.012000	0.17670	0.813000	0.32504	0.841000	0.47740	2.729000	0.47327	1.999000	0.58509	0.529000	0.55759	AAA		0.483	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186	
OR2D3	120775	broad.mit.edu	37	11	6942290	6942290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6942290G>T	ENST00000317834.3	+	1	86	c.58G>T	c.(58-60)Gaa>Taa	p.E20*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E20*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATGGGAGAAGAAAACCAAAC	0.398																																					p.E20X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G58T	11						.						86.0	88.0	87.0					11																	6942290		2201	4296	6497	6898866	SO:0001587	stop_gained	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.58G>T	11.37:g.6942290G>T	ENSP00000320560:p.Glu20*		6898866	NM_001004684	B2RP06|Q6IFG8|Q96R51	Nonsense_Mutation	SNP	ENST00000317834.3	37	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.459988	0.43736	.	.	ENSG00000178358	ENST00000317834	.	.	.	5.12	2.09	0.27110	.	1.278540	0.05581	N	0.572808	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	0.5306	7.0213	0.24916	0.3859:0.0:0.6141:0.0	.	.	.	.	X	20	.	ENSP00000320560:E20X	E	+	1	0	OR2D3	6898866	0.061000	0.20836	0.603000	0.28903	0.083000	0.17756	0.981000	0.29526	0.371000	0.24564	-0.141000	0.14075	GAA		0.398	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
OR2D3	120775	broad.mit.edu	37	11	6942352	6942352	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:6942352G>A	ENST00000317834.3	+	1	148	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q40Q(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAGACCCAGATCCTGCTAT	0.438																																					p.Q40Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	11						.						105.0	105.0	105.0					11																	6942352		2201	4296	6497	6898928	SO:0001819	synonymous_variant	120775	exon1			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.120G>A	11.37:g.6942352G>A			6898928	NM_001004684	B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.438	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
NLRP14	338323	broad.mit.edu	37	11	7063733	7063733	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7063733G>T	ENST00000299481.4	+	4	822	c.476G>T	c.(475-477)aGa>aTa	p.R159I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	159					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.R159I(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAAAGATAGAAAACTGTTG	0.433																																					p.R159I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G476T	11						.						83.0	89.0	87.0					11																	7063733		2201	4296	6497	7020309	SO:0001583	missense	338323	exon4			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.476G>T	11.37:g.7063733G>T	ENSP00000299481:p.Arg159Ile		7020309	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837926	0.32513	.	.	ENSG00000158077	ENST00000299481	D	0.81739	-1.53	4.25	-4.07	0.03975	.	2.193420	0.02245	N	0.066158	T	0.72415	0.3457	L	0.34521	1.04	0.09310	N	1	P	0.36438	0.553	B	0.38712	0.28	T	0.60642	-0.7223	10	0.23302	T	0.38	.	10.9995	0.47596	0.7339:0.0:0.2661:0.0	.	159	Q86W24	NAL14_HUMAN	I	159	ENSP00000299481:R159I	ENSP00000299481:R159I	R	+	2	0	NLRP14	7020309	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.925000	0.03992	-1.061000	0.03185	-0.145000	0.13849	AGA		0.433	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
NLRP14	338323	broad.mit.edu	37	11	7064821	7064821	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7064821G>T	ENST00000299481.4	+	4	1910	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	522			D -> Q (associated with spermatogenic failure; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:16931801}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.D522Y(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGTTATAAAGACCCCCATTT	0.393																																					p.D522Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1564T	11						.						75.0	78.0	77.0					11																	7064821		2201	4296	6497	7021397	SO:0001583	missense	338323	exon4			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1564G>T	11.37:g.7064821G>T	ENSP00000299481:p.Asp522Tyr		7021397	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	6.531	0.466193	0.12402	.	.	ENSG00000158077	ENST00000299481	D	0.84442	-1.85	4.55	1.56	0.23342	.	0.380726	0.22703	N	0.056676	T	0.72708	0.3494	L	0.39245	1.2	0.09310	N	1	B	0.18310	0.027	B	0.13407	0.009	T	0.53429	-0.8440	10	0.18710	T	0.47	.	3.9529	0.09377	0.2016:0.0:0.6106:0.1878	.	522	Q86W24	NAL14_HUMAN	Y	522	ENSP00000299481:D522Y	ENSP00000299481:D522Y	D	+	1	0	NLRP14	7021397	0.001000	0.12720	0.002000	0.10522	0.029000	0.11900	0.805000	0.27112	0.240000	0.21263	-0.136000	0.14681	GAC		0.393	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
NLRP14	338323	broad.mit.edu	37	11	7067969	7067969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7067969G>T	ENST00000299481.4	+	5	2375	c.2029G>T	c.(2029-2031)Gaa>Taa	p.E677*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	677					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.E677*(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACACTTGAGAGAATTGGACCT	0.378																																					p.E677X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2029T	11						.						225.0	193.0	204.0					11																	7067969		2201	4296	6497	7024545	SO:0001587	stop_gained	338323	exon5			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2029G>T	11.37:g.7067969G>T	ENSP00000299481:p.Glu677*		7024545	NM_176822	Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	39	7.574328	0.98368	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.52	3.61	0.41365	.	0.149577	0.31323	N	0.007842	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	10.8792	0.46929	0.0:0.1903:0.8097:0.0	.	.	.	.	X	677	.	ENSP00000299481:E677X	E	+	1	0	NLRP14	7024545	1.000000	0.71417	0.391000	0.26233	0.307000	0.27823	1.718000	0.38001	1.275000	0.44379	-0.203000	0.12734	GAA		0.378	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
NLRP14	338323	broad.mit.edu	37	11	7079056	7079056	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7079056A>C	ENST00000299481.4	+	7	2786	c.2440A>C	c.(2440-2442)Aag>Cag	p.K814Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	814					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.K814Q(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGACATCCAAAGTGTTATCT	0.408																																					p.K814Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2440C	11						.						223.0	198.0	207.0					11																	7079056		2201	4296	6497	7035632	SO:0001583	missense	338323	exon7			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2440A>C	11.37:g.7079056A>C	ENSP00000299481:p.Lys814Gln		7035632	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	6.095	0.385818	0.11524	.	.	ENSG00000158077	ENST00000299481	T	0.52057	0.68	4.89	-3.38	0.04883	.	0.638092	0.13890	N	0.355641	T	0.17109	0.0411	N	0.12637	0.245	0.09310	N	1	B	0.23854	0.092	B	0.21360	0.034	T	0.26224	-1.0109	10	0.06625	T	0.88	.	1.9245	0.03314	0.3183:0.1532:0.3794:0.1491	.	814	Q86W24	NAL14_HUMAN	Q	814	ENSP00000299481:K814Q	ENSP00000299481:K814Q	K	+	1	0	NLRP14	7035632	0.001000	0.12720	0.056000	0.19401	0.905000	0.53344	-0.049000	0.11924	-0.204000	0.10235	-0.386000	0.06593	AAG		0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
NLRP14	338323	broad.mit.edu	37	11	7079555	7079555	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7079555C>A	ENST00000299481.4	+	8	2853	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	836					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.S836Y(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGTATCTTTCTTTGGCTCTC	0.448																																					p.S836Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2507A	11						.						187.0	168.0	175.0					11																	7079555		2201	4296	6497	7036131	SO:0001583	missense	338323	exon8			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2507C>A	11.37:g.7079555C>A	ENSP00000299481:p.Ser836Tyr		7036131	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514427	0.64522	.	.	ENSG00000158077	ENST00000299481	T	0.43294	0.95	3.85	3.85	0.44370	.	0.000000	0.38897	N	0.001538	T	0.64091	0.2567	M	0.82193	2.58	0.40303	D	0.978636	D	0.89917	1.0	D	0.81914	0.995	T	0.69355	-0.5167	10	0.56958	D	0.05	.	11.4723	0.50278	0.0:1.0:0.0:0.0	.	836	Q86W24	NAL14_HUMAN	Y	836	ENSP00000299481:S836Y	ENSP00000299481:S836Y	S	+	2	0	NLRP14	7036131	0.583000	0.26757	0.448000	0.26945	0.985000	0.73830	2.394000	0.44450	2.158000	0.67659	0.650000	0.86243	TCT		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
NLRP14	338323	broad.mit.edu	37	11	7081260	7081260	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7081260C>A	ENST00000299481.4	+	9	3115	c.2769C>A	c.(2767-2769)gtC>gtA	p.V923V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	923					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.V923V(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTGTGATGTCTTTCGGCATC	0.423																																					p.V923V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2769A	11						.						225.0	214.0	218.0					11																	7081260		2201	4295	6496	7037836	SO:0001819	synonymous_variant	338323	exon9			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2769C>A	11.37:g.7081260C>A			7037836	NM_176822	Q7RTR6	Silent	SNP	ENST00000299481.4	37	CCDS7776.1																																																																																				0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
RBMXL2	27288	broad.mit.edu	37	11	7110403	7110403	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7110403G>A	ENST00000306904.5	+	1	239	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	18	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E18K(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTCAACCTCGAAACCGACGA	0.607																																					p.E18K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	11						.						40.0	43.0	42.0					11																	7110403		2201	4296	6497	7066979	SO:0001583	missense	27288	exon1			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.52G>A	11.37:g.7110403G>A	ENSP00000304139:p.Glu18Lys		7066979	NM_014469	Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351853	0.41700	.	.	ENSG00000170748	ENST00000306904	D	0.93859	-3.3	2.39	2.39	0.29439	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.84848	0.5563	N	0.05510	-0.035	0.58432	D	0.999993	B	0.26672	0.156	B	0.33750	0.169	T	0.80346	-0.1421	10	0.30078	T	0.28	.	10.8937	0.47010	0.0:0.0:1.0:0.0	.	18	O75526	HNRGT_HUMAN	K	18	ENSP00000304139:E18K	ENSP00000304139:E18K	E	+	1	0	RBMXL2	7066979	1.000000	0.71417	0.843000	0.33291	0.877000	0.50540	8.872000	0.92352	1.624000	0.50355	0.455000	0.32223	GAA		0.607	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
SYT9	143425	broad.mit.edu	37	11	7334765	7334765	+	Missense_Mutation	SNP	G	G	A	rs568579361		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7334765G>A	ENST00000318881.6	+	3	874	c.637G>A	c.(637-639)Ggg>Agg	p.G213R	SYT9_ENST00000396716.2_Missense_Mutation_p.G181R	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	213					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.G213R(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TAATGATGACGGGAGACGGAG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19759	0.001		0.0	False		,,,				2504	0.0				p.G213R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	11						.						128.0	131.0	130.0					11																	7334765		2201	4296	6497	7291341	SO:0001583	missense	143425	exon3			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.637G>A	11.37:g.7334765G>A	ENSP00000324419:p.Gly213Arg		7291341	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249359	0.80024	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.57107	0.42;0.47	5.85	5.85	0.93711	.	0.076993	0.56097	D	0.000031	T	0.62877	0.2464	M	0.67953	2.075	0.51482	D	0.999929	D	0.54397	0.966	P	0.50791	0.65	T	0.61053	-0.7140	10	0.41790	T	0.15	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	213	Q86SS6	SYT9_HUMAN	R	181;213	ENSP00000379944:G181R;ENSP00000324419:G213R	ENSP00000324419:G213R	G	+	1	0	SYT9	7291341	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.892000	0.87324	2.932000	0.99384	0.643000	0.83706	GGG		0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
SYT9	143425	broad.mit.edu	37	11	7334914	7334914	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7334914C>A	ENST00000318881.6	+	3	1023	c.786C>A	c.(784-786)atC>atA	p.I262I	SYT9_ENST00000396716.2_Silent_p.I230I	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	262	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.I262I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGTCAAGATCTATTTGCTTC	0.413																																					p.I262I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786A	11						.						136.0	135.0	136.0					11																	7334914		2201	4296	6497	7291490	SO:0001819	synonymous_variant	143425	exon3			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.786C>A	11.37:g.7334914C>A			7291490	NM_175733		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.413	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
SYT9	143425	broad.mit.edu	37	11	7334975	7334975	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7334975C>A	ENST00000318881.6	+	3	1084	c.847C>A	c.(847-849)Cct>Act	p.P283T	SYT9_ENST00000396716.2_Missense_Mutation_p.P251T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	283	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.P283T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GACCCTGAACCCTGTGTTTGA	0.428																																					p.P283T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847A	11						.						205.0	204.0	205.0					11																	7334975		2201	4296	6497	7291551	SO:0001583	missense	143425	exon3			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.847C>A	11.37:g.7334975C>A	ENSP00000324419:p.Pro283Thr		7291551	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559913	0.86335	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	D;D	0.91295	-2.82;-2.82	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	D	0.97433	0.9160	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98198	1.0466	9	.	.	.	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	283	Q86SS6	SYT9_HUMAN	T	251;283	ENSP00000379944:P251T;ENSP00000324419:P283T	.	P	+	1	0	SYT9	7291551	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCT		0.428	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
SYT9	143425	broad.mit.edu	37	11	7439352	7439352	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7439352T>G	ENST00000318881.6	+	5	1567	c.1330T>G	c.(1330-1332)Tat>Gat	p.Y444D		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	444	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.Y444H(1)|p.Y444D(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGTCATGGACTATGACCGGTG	0.502																																					p.Y444D												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T1330G	11						.						141.0	122.0	129.0					11																	7439352		2201	4296	6497	7395928	SO:0001583	missense	143425	exon5			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1330T>G	11.37:g.7439352T>G	ENSP00000324419:p.Tyr444Asp		7395928	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552989	0.86127	.	.	ENSG00000170743	ENST00000318881	T	0.68025	-0.3	5.85	5.85	0.93711	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000060	T	0.76884	0.4050	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78783	-0.2069	10	0.72032	D	0.01	.	14.1896	0.65630	0.0:0.0:0.0:1.0	.	444	Q86SS6	SYT9_HUMAN	D	444	ENSP00000324419:Y444D	ENSP00000324419:Y444D	Y	+	1	0	SYT9	7395928	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.698000	0.84413	2.222000	0.72286	0.533000	0.62120	TAT		0.502	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
PPFIBP2	8495	broad.mit.edu	37	11	7631633	7631633	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7631633G>T	ENST00000299492.4	+	6	986	c.598G>T	c.(598-600)Gag>Tag	p.E200*	PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.E88*|PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.E57*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.E42*	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	200					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E200*(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAGCAGGAGGAGAAGCAGAG	0.512																																					p.E200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G598T	11						.						258.0	250.0	252.0					11																	7631633		2201	4296	6497	7588209	SO:0001587	stop_gained	8495	exon6			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.598G>T	11.37:g.7631633G>T	ENSP00000299492:p.Glu200*		7588209	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	37	6.288627	0.97444	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000525597;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	.	.	.	5.79	5.79	0.91817	.	0.071509	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-24.1382	17.5252	0.87798	0.0:0.0:1.0:0.0	.	.	.	.	X	200;42;42;42;42;123;88;57	.	ENSP00000299492:E200X	E	+	1	0	PPFIBP2	7588209	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	6.187000	0.72039	2.746000	0.94184	0.655000	0.94253	GAG		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
PPFIBP2	8495	broad.mit.edu	37	11	7672896	7672896	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7672896C>T	ENST00000299492.4	+	23	2645	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P641S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P610S|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P595S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	753	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.P753S(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GATCCTGGAGCCACGCTTCAC	0.577																																					p.P753S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2257T	11						.						99.0	90.0	93.0					11																	7672896		2201	4296	6497	7629472	SO:0001583	missense	8495	exon23			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2257C>T	11.37:g.7672896C>T	ENSP00000299492:p.Pro753Ser		7629472	NM_003621	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634829	0.67130	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.77	3.9	0.45041	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.078575	0.53938	N	0.000046	D	0.89539	0.6744	L	0.60067	1.865	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.921;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.701;1.0;0.999;0.999;1.0	D	0.88841	0.3312	10	0.59425	D	0.04	-4.9389	10.655	0.45669	0.0:0.8438:0.0:0.1562	.	641;641;676;595;610;753	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	S	753;94;595;676;641;610	ENSP00000299492:P753S;ENSP00000436498:P595S;ENSP00000435469:P641S;ENSP00000437321:P610S	ENSP00000299492:P753S	P	+	1	0	PPFIBP2	7629472	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	4.041000	0.57339	0.895000	0.36342	0.655000	0.94253	CCA		0.577	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621	
CYB5R2	51700	broad.mit.edu	37	11	7690472	7690472	+	Nonsense_Mutation	SNP	G	G	A	rs141969366		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7690472G>A	ENST00000533558.1	-	5	908	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Nonsense_Mutation_p.R118*|CYB5R2_ENST00000299498.6_Nonsense_Mutation_p.R118*|CYB5R2_ENST00000299497.9_Nonsense_Mutation_p.R118*			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	118	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.R118*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTGGCCCTCGAAAAAAGATG	0.473																																					p.R118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C352T	11						.	G	stop/ARG	1,4401	2.1+/-5.4	0,1,2200	147.0	140.0	142.0		352	5.4	1.0	11	dbSNP_134	142	0,8592		0,0,4296	no	stop-gained	CYB5R2	NM_016229.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		118/277	7690472	1,12993	2201	4296	6497	7647048	SO:0001587	stop_gained	51700	exon5			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.352C>T	11.37:g.7690472G>A	ENSP00000437041:p.Arg118*		7647048	NM_016229	Q9BVA3|Q9UF68|Q9UHJ0	Nonsense_Mutation	SNP	ENST00000533558.1	37	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312807	0.95655	2.27E-4	0.0	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096;ENST00000527542;ENST00000524608	.	.	.	5.37	5.37	0.77165	.	0.055448	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8108	16.6555	0.85227	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;118;118;178	.	ENSP00000299497:R118X	R	-	1	2	CYB5R2	7647048	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.810000	0.38932	2.793000	0.96121	0.563000	0.77884	CGA		0.473	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229	
OVCH2	341277	broad.mit.edu	37	11	7716871	7716871	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7716871G>T	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V404V(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		TGGCATCAGAGACGAATTTCA	0.458																																					p.V404V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212A	11						.						62.0	57.0	58.0					11																	7716871		1821	4068	5889	7673447			341277	exon12			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7716871G>T			7673447	NM_198185		Silent	SNP	ENST00000533663.1	37																																																																																					0.458	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185	
OVCH2	341277	broad.mit.edu	37	11	7725332	7725332	+	lincRNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7725332G>T	ENST00000527565.1	-	0	1178				OVCH2_ENST00000454689.1_RNA|RP11-35J10.4_ENST00000527443.1_RNA|OVCH2_ENST00000534193.2_RNA														p.S68Y(1)									TTGTTTCAGAGATACCTAAAT	0.458																																					p.S68Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203A	11						.						69.0	70.0	70.0					11																	7725332		1974	4148	6122	7681908			341277	exon3																															11.37:g.7725332G>T			7681908	NM_198185		Missense_Mutation	SNP	ENST00000527565.1	37		.	.	.	.	.	.	.	.	.	.	G	24.3	4.515608	0.85389	.	.	ENSG00000183378	ENST00000454689	D	0.93953	-3.32	5.77	5.77	0.91146	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45361	D	0.000370	D	0.96889	0.8984	M	0.83774	2.66	0.35620	D	0.80936	D	0.89917	1.0	D	0.91635	0.999	D	0.99918	1.1237	10	0.66056	D	0.02	-20.8633	17.4866	0.87691	0.0:0.0:1.0:0.0	.	68	Q7RTZ1	OVCH2_HUMAN	Y	68	ENSP00000407158:S68Y	ENSP00000407158:S68Y	S	-	2	0	OVCH2	7681908	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.338000	0.79269	2.745000	0.94114	0.650000	0.86243	TCT		0.458	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1		
OR10A6	390093	broad.mit.edu	37	11	7949470	7949470	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7949470G>T	ENST00000309838.2	-	1	739	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S247Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGGGTCACAGATGTGAGGTG	0.453																																					p.S247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C740A	11						.						128.0	115.0	119.0					11																	7949470		2201	4296	6497	7906046	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.740C>A	11.37:g.7949470G>T	ENSP00000312470:p.Ser247Tyr		7906046	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050582	0.55218	.	.	ENSG00000175393	ENST00000309838	T	0.00123	8.7	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.378221	0.19507	N	0.112613	T	0.00384	0.0012	L	0.61036	1.89	0.24646	N	0.993542	D	0.89917	1.0	D	0.91635	0.999	T	0.54443	-0.8293	10	0.87932	D	0	.	10.7212	0.46042	0.0:0.1935:0.8065:0.0	.	247	Q8NH74	O10A6_HUMAN	Y	247	ENSP00000312470:S247Y	ENSP00000312470:S247Y	S	-	2	0	OR10A6	7906046	0.015000	0.18098	0.999000	0.59377	0.982000	0.71751	1.928000	0.40104	2.452000	0.82932	0.655000	0.94253	TCT		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
OR10A6	390093	broad.mit.edu	37	11	7949552	7949552	+	Nonsense_Mutation	SNP	G	G	A	rs267603211		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7949552G>A	ENST00000309838.2	-	1	657	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACAGAACTCGAATGTAAGAC	0.433																																					p.R220X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C658T	11						.						89.0	78.0	81.0					11																	7949552		2201	4296	6497	7906128	SO:0001587	stop_gained	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.658C>T	11.37:g.7949552G>A	ENSP00000312470:p.Arg220*		7906128	NM_001004461	Q6IF59	Nonsense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	8.394	0.840452	0.16891	.	.	ENSG00000175393	ENST00000309838	.	.	.	4.43	0.33	0.15929	.	0.503989	0.14983	N	0.287139	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	2.6865	0.05109	0.2689:0.0:0.3631:0.368	.	.	.	.	X	220	.	ENSP00000312470:R220X	R	-	1	2	OR10A6	7906128	0.000000	0.05858	0.023000	0.16930	0.034000	0.12701	-0.226000	0.09139	0.203000	0.20529	-0.182000	0.12963	CGA		0.433	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
OR10A6	390093	broad.mit.edu	37	11	7949878	7949878	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7949878T>G	ENST00000309838.2	-	1	331	c.332A>C	c.(331-333)gAa>gCa	p.E111A		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAAAACATTCAGCCCCACC	0.388																																					p.E111A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332C	11						.						79.0	82.0	81.0					11																	7949878		2201	4296	6497	7906454	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.332A>C	11.37:g.7949878T>G	ENSP00000312470:p.Glu111Ala		7906454	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095570	0.56075	.	.	ENSG00000175393	ENST00000309838	T	0.02177	4.41	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.18173	0.0436	H	0.95539	3.685	0.25634	N	0.986274	D	0.76494	0.999	D	0.81914	0.995	T	0.16188	-1.0411	10	0.87932	D	0	.	11.9092	0.52729	0.0:0.0:0.0:1.0	.	111	Q8NH74	O10A6_HUMAN	A	111	ENSP00000312470:E111A	ENSP00000312470:E111A	E	-	2	0	OR10A6	7906454	0.983000	0.35010	0.998000	0.56505	0.937000	0.57800	3.041000	0.49807	1.983000	0.57843	0.533000	0.62120	GAA		0.388	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
OR10A3	26496	broad.mit.edu	37	11	7960755	7960755	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7960755G>T	ENST00000360759.3	-	1	386	c.313C>A	c.(313-315)Ctt>Att	p.L105I		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	105					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L105I(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAAAAAGAAGGATGAAATAC	0.438																																					p.L105I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313A	11						.						100.0	92.0	94.0					11																	7960755		2201	4296	6497	7917331	SO:0001583	missense	26496	exon1			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.313C>A	11.37:g.7960755G>T	ENSP00000353988:p.Leu105Ile		7917331	NM_001003745	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583540	0.46006	.	.	ENSG00000170683	ENST00000360759	T	0.01347	4.99	4.95	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.207048	0.23551	N	0.046980	T	0.01730	0.0055	L	0.37630	1.12	0.09310	N	1	P	0.43973	0.823	P	0.44732	0.459	T	0.52396	-0.8581	10	0.33940	T	0.23	.	6.4332	0.21809	0.0958:0.1861:0.718:0.0	.	105	P58181	O10A3_HUMAN	I	105	ENSP00000353988:L105I	ENSP00000353988:L105I	L	-	1	0	OR10A3	7917331	0.000000	0.05858	1.000000	0.80357	0.964000	0.63967	-0.211000	0.09332	2.742000	0.94016	0.650000	0.86243	CTT		0.438	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
NLRP10	338322	broad.mit.edu	37	11	7981498	7981498	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7981498G>T	ENST00000328600.2	-	2	1822	c.1661C>A	c.(1660-1662)tCt>tAt	p.S554Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	554					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.S554Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGCTTCATAGATTCCATCTG	0.388																																					p.S554Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1661A	11						.						62.0	64.0	64.0					11																	7981498		2201	4296	6497	7938074	SO:0001583	missense	338322	exon2			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1661C>A	11.37:g.7981498G>T	ENSP00000327763:p.Ser554Tyr		7938074	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252084	0.39797	.	.	ENSG00000182261	ENST00000328600	D	0.88818	-2.43	3.91	2.96	0.34315	.	0.497976	0.15194	N	0.275384	D	0.87601	0.6218	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.59703	0.862	T	0.78542	-0.2164	10	0.56958	D	0.05	.	9.8762	0.41205	0.0:0.2099:0.7901:0.0	.	554	Q86W26	NAL10_HUMAN	Y	554	ENSP00000327763:S554Y	ENSP00000327763:S554Y	S	-	2	0	NLRP10	7938074	0.001000	0.12720	0.001000	0.08648	0.116000	0.19942	0.581000	0.23819	0.914000	0.36822	0.563000	0.77884	TCT		0.388	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
NLRP10	338322	broad.mit.edu	37	11	7981569	7981569	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7981569C>T	ENST00000328600.2	-	2	1751	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	530					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.E530E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAACTTGAGCTCCAAGTTCG	0.453																																					p.E530E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1590A	11						.						73.0	70.0	71.0					11																	7981569		2201	4296	6497	7938145	SO:0001819	synonymous_variant	338322	exon2			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1590G>A	11.37:g.7981569C>T			7938145	NM_176821	Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	CCDS7784.1																																																																																				0.453	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
NLRP10	338322	broad.mit.edu	37	11	7982546	7982546	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:7982546A>G	ENST00000328600.2	-	2	774	c.613T>C	c.(613-615)Tat>Cat	p.Y205H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	205	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.Y205H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCTTACATAAAAGACATAA	0.532																																					p.Y205H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T613C	11						.						46.0	48.0	47.0					11																	7982546		2201	4296	6497	7939122	SO:0001583	missense	338322	exon2			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.613T>C	11.37:g.7982546A>G	ENSP00000327763:p.Tyr205His		7939122	NM_176821	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109283	0.37242	.	.	ENSG00000182261	ENST00000328600	D	0.81739	-1.53	5.25	4.13	0.48395	NACHT nucleoside triphosphatase (1);	0.211078	0.24115	N	0.041414	D	0.86502	0.5948	M	0.67953	2.075	0.24587	N	0.993849	D	0.89917	1.0	D	0.87578	0.998	T	0.77627	-0.2517	10	0.87932	D	0	.	7.9345	0.29923	0.9063:0.0:0.0937:0.0	.	205	Q86W26	NAL10_HUMAN	H	205	ENSP00000327763:Y205H	ENSP00000327763:Y205H	Y	-	1	0	NLRP10	7939122	0.996000	0.38824	0.993000	0.49108	0.024000	0.10985	2.407000	0.44565	0.967000	0.38186	0.533000	0.62120	TAT		0.532	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821	
EIF3F	8665	broad.mit.edu	37	11	8009135	8009135	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8009135G>A	ENST00000533626.1	+	3	862	c.236G>A	c.(235-237)gGt>gAt	p.G79D	EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.G94D|EIF3F_ENST00000309828.4_Missense_Mutation_p.G79D					eukaryotic translation initiation factor 3, subunit F									p.G79D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTCTGCCTGGTCCTGCTCTT	0.687											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G79D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	11						.						7.0	8.0	7.0					11																	8009135		2017	4087	6104	7965711	SO:0001583	missense	8665	exon1			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.236G>A	11.37:g.8009135G>A	ENSP00000431800:p.Gly79Asp	646	7965711	NM_003754		Missense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476887	0.44044	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607	T;T;T	0.46819	0.86;1.42;0.86	2.97	0.982	0.19762	.	0.685074	0.13328	N	0.396159	T	0.33498	0.0865	L	0.32530	0.975	0.20489	N	0.999899	B	0.20671	0.047	B	0.19946	0.027	T	0.29701	-1.0003	10	0.72032	D	0.01	-17.4027	6.3061	0.21139	0.0:0.3928:0.4063:0.2009	.	79	O00303	EIF3F_HUMAN	D	79;94;79;29	ENSP00000431800:G79D;ENSP00000442283:G94D;ENSP00000310040:G79D	ENSP00000310040:G79D	G	+	2	0	EIF3F	7965711	0.037000	0.19845	0.000000	0.03702	0.610000	0.37248	0.391000	0.20784	0.281000	0.22233	0.549000	0.68633	GGT		0.687	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
EIF3F	8665	broad.mit.edu	37	11	8013365	8013365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8013365C>A	ENST00000533626.1	+	4	1028	c.402C>A	c.(400-402)tgC>tgA	p.C134*	EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000537635.1_Nonsense_Mutation_p.C149*|EIF3F_ENST00000309828.4_Nonsense_Mutation_p.C134*					eukaryotic translation initiation factor 3, subunit F									p.C134*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCACCAATTGCTTTTCAGTGC	0.483																																					p.C134X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C402A	11						.						182.0	170.0	174.0					11																	8013365		2201	4296	6497	7969941	SO:0001587	stop_gained	8665	exon2			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.402C>A	11.37:g.8013365C>A	ENSP00000431800:p.Cys134*		7969941	NM_003754		Nonsense_Mutation	SNP	ENST00000533626.1	37	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	37	6.237258	0.97403	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607	.	.	.	4.39	2.41	0.29592	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2919	8.1104	0.30911	0.0:0.7842:0.0:0.2158	.	.	.	.	X	134;149;134;84	.	ENSP00000310040:C134X	C	+	3	2	EIF3F	7969941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.361000	0.44160	0.494000	0.27859	0.655000	0.94253	TGC		0.483	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
TUB	7275	broad.mit.edu	37	11	8060574	8060574	+	Splice_Site	SNP	C	C	T	rs150936269		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8060574C>T	ENST00000305253.4	+	1	395	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.R52W(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCGAAGAGATCGGTAAGCTTT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16519	0.0		0.0	False		,,,				2504	0.0				p.R52W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154T	11						.	C	TRP/ARG	0,4402		0,0,2201	60.0	56.0	58.0		154	-1.1	1.0	11	dbSNP_134	58	2,8590	2.2+/-6.3	0,2,4294	yes	missense-near-splice	TUB	NM_003320.4	101	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	52/562	8060574	2,12992	2201	4296	6497	8017150	SO:0001630	splice_region_variant	7275	exon1			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.155+1C>T	11.37:g.8060574C>T			8017150	NM_003320	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000305253.4	37	CCDS7786.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.49	2.251971	0.39797	0.0	2.33E-4	ENSG00000166402	ENST00000305253	D	0.86030	-2.06	4.79	-1.11	0.09840	.	1.310990	0.05836	N	0.618474	T	0.75004	0.3791	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64820	-0.6317	9	0.49607	T	0.09	-12.5866	1.5424	0.02558	0.1607:0.3622:0.2932:0.1838	.	52	P50607-2	.	W	52	ENSP00000305426:R52W	ENSP00000305426:R52W	R	+	1	2	TUB	8017150	0.195000	0.23338	0.998000	0.56505	0.827000	0.46813	-1.547000	0.02186	0.012000	0.14892	-0.222000	0.12452	CGG		0.577	TUB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385822.1	NM_003320	Missense_Mutation
AKIP1	56672	broad.mit.edu	37	11	8936409	8936409	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8936409A>G	ENST00000309377.4	+	4	430	c.340A>G	c.(340-342)Acc>Gcc	p.T114A	AKIP1_ENST00000525005.1_Missense_Mutation_p.T114A|AKIP1_ENST00000309357.4_Missense_Mutation_p.T114A|AKIP1_ENST00000396648.2_Missense_Mutation_p.T87A|AKIP1_ENST00000534147.1_Missense_Mutation_p.T114A|AKIP1_ENST00000534506.1_Missense_Mutation_p.T87A|AKIP1_ENST00000529876.1_Missense_Mutation_p.T87A|AKIP1_ENST00000299576.5_Missense_Mutation_p.T87A	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	114					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.T114A(1)		kidney(1)|large_intestine(2)|lung(2)	5						AGGAGGGGCAACCCATGTCTA	0.438											OREG0020740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T114A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A340G	11						.						196.0	169.0	178.0					11																	8936409		2201	4296	6497	8892985	SO:0001583	missense	56672	exon4			AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.340A>G	11.37:g.8936409A>G	ENSP00000310459:p.Thr114Ala	653	8892985	NM_020642	Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	ENST00000309377.4	37	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261337	0.23051	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000529876;ENST00000525005;ENST00000524577;ENST00000534506;ENST00000530281;ENST00000396648;ENST00000534147;ENST00000529942	T;T;T;T;T;T;T;T;T;T;T	0.44881	1.57;1.49;1.51;1.4;1.44;1.47;1.4;0.91;1.57;1.49;1.51	5.47	-0.875	0.10628	.	0.600495	0.16469	N	0.213071	T	0.22282	0.0537	N	0.17379	0.485	0.09310	N	1	B;B;B;B;B	0.20671	0.001;0.047;0.002;0.002;0.002	B;B;B;B;B	0.20767	0.004;0.031;0.003;0.003;0.004	T	0.20405	-1.0276	10	0.22706	T	0.39	-0.0041	8.8858	0.35402	0.526:0.0:0.474:0.0	.	87;114;114;87;114	E9PN38;B4DGE2;Q9NQ31-2;Q9NQ31-3;Q9NQ31	.;.;.;.;AKIP1_HUMAN	A	87;114;114;87;114;114;87;26;87;114;82	ENSP00000299576:T87A;ENSP00000310459:T114A;ENSP00000310644:T114A;ENSP00000434726:T87A;ENSP00000433510:T114A;ENSP00000434785:T114A;ENSP00000434820:T87A;ENSP00000436989:T26A;ENSP00000379885:T87A;ENSP00000431331:T114A;ENSP00000431602:T82A	ENSP00000299576:T87A	T	+	1	0	AKIP1	8892985	0.010000	0.17322	0.579000	0.28588	0.788000	0.44548	0.808000	0.27154	-0.100000	0.12241	-0.379000	0.06801	ACC		0.438	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642	
C11orf16	56673	broad.mit.edu	37	11	8942863	8942863	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8942863C>A	ENST00000326053.5	-	6	1510	c.1404G>T	c.(1402-1404)taG>taT	p.*468Y	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	0								p.*468Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GGCTCTTAGTCTAACGGGAAT	0.527																																					p.X468Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G1404T	11						.						109.0	108.0	109.0					11																	8942863		2201	4296	6497	8899439	SO:0001578	stop_lost	56673	exon6			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1404G>T	11.37:g.8942863C>A			8899439	NM_020643	Q53FB2|Q8N6Y9	Nonstop_Mutation	SNP	ENST00000326053.5	37	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	C	1.131	-0.652368	0.03480	.	.	ENSG00000176029	ENST00000326053	.	.	.	4.21	-2.84	0.05751	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5231	0.11969	0.0:0.2251:0.3213:0.4536	.	.	.	.	Y	468	.	.	X	-	3	2	C11orf16	8899439	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.165000	0.03132	-0.499000	0.06623	0.585000	0.79938	TAG		0.527	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643	
ASCL3	56676	broad.mit.edu	37	11	8959396	8959396	+	Missense_Mutation	SNP	G	G	A	rs560348439		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:8959396G>A	ENST00000531618.1	-	1	362	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	ASCL3_ENST00000325884.1_Missense_Mutation_p.R105W			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R105W(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CATTTCACCCGCTGCCTTTCC	0.552																																					p.R105W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313T	11						.						71.0	72.0	72.0					11																	8959396		2201	4295	6496	8915972	SO:0001583	missense	56676	exon2			AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.313C>T	11.37:g.8959396G>A	ENSP00000435770:p.Arg105Trp		8915972	NM_020646	Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661760	0.67700	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.99722	-6.53;-6.53	5.72	2.51	0.30379	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.98833	4.345	0.44337	D	0.997225	D	0.89917	1.0	D	0.97110	1.0	D	0.96197	0.9142	10	0.87932	D	0	-13.9271	16.5442	0.84410	0.0:0.0:0.667:0.333	.	104	Q9NQ33	ASCL3_HUMAN	W	105	ENSP00000318846:R105W;ENSP00000435770:R105W	ENSP00000318846:R105W	R	-	1	2	ASCL3	8915972	0.998000	0.40836	1.000000	0.80357	0.877000	0.50540	0.334000	0.19787	1.409000	0.46915	0.650000	0.86243	CGG		0.552	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1		
SCUBE2	57758	broad.mit.edu	37	11	9048966	9048966	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9048966C>A	ENST00000309263.3	-	19	2631	c.2559G>T	c.(2557-2559)gaG>gaT	p.E853D	SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.E882D|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E825D			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	853	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E853D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GCAGGAAGATCTCAGGGACCA	0.582																																					p.E825D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2475T	11						.						136.0	113.0	121.0					11																	9048966		2201	4296	6497	9005542	SO:0001583	missense	57758	exon19			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2559G>T	11.37:g.9048966C>A	ENSP00000310658:p.Glu853Asp		9005542	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.5|23.5|23.5	4.418855|4.418855|4.418855	0.83559|0.83559|0.83559	.|.|.	.|.|.	ENSG00000175356|ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000457346;ENST00000309263;ENST00000520467|ENST00000519202	.|T;T;T|.	.|0.17528|.	.|2.27;2.27;2.27|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|CUB (5);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.42471|0.42471|0.42471	0.1204|0.1204|0.1204	N|N|N	0.17764|0.17764|0.17764	0.52|0.52|0.52	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.999;0.999|.	T|T|T	0.27020|0.27020|0.27020	-1.0086|-1.0086|-1.0086	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	10.2465|10.2465|10.2465	0.43343|0.43343|0.43343	0.0:0.878:0.0:0.122|0.0:0.878:0.0:0.122|0.0:0.878:0.0:0.122	.|.|.	.|825;853|.	.|Q9NQ36-2;Q9NQ36|.	.|.;SCUB2_HUMAN|.	Y|D|I	41|882;853;825|36	.|ENSP00000390481:E882D;ENSP00000310658:E853D;ENSP00000429969:E825D|.	.|ENSP00000310658:E853D|.	D|E|R	-|-|-	1|3|2	0|2|0	SCUBE2|SCUBE2|SCUBE2	9005542|9005542|9005542	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	1.449000|1.449000|1.449000	0.35123|0.35123|0.35123	2.506000|2.506000|2.506000	0.84524|0.84524|0.84524	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAT|GAG|AGA		0.582	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
SCUBE2	57758	broad.mit.edu	37	11	9100984	9100984	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9100984C>T	ENST00000309263.3	-	3	401	c.329G>A	c.(328-330)cGt>cAt	p.R110H	SCUBE2_ENST00000450649.2_Missense_Mutation_p.R110H|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R110H|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R110H|SCUBE2_ENST00000534295.1_5'Flank			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	110	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R110H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACAAGTGCAACGATAATTGCC	0.428																																					p.R110H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	11						.						229.0	184.0	199.0					11																	9100984		2201	4296	6497	9057560	SO:0001583	missense	57758	exon3			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.329G>A	11.37:g.9100984C>T	ENSP00000310658:p.Arg110His		9057560	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	19.85	3.903110	0.72754	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.37	5.37	0.77165	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92896	0.7740	L	0.34521	1.04	0.80722	D	1	P;P;P	0.49447	0.924;0.467;0.523	P;B;B	0.50049	0.629;0.233;0.344	D	0.93157	0.6554	10	0.62326	D	0.03	.	13.7543	0.62926	0.0:0.9261:0.0:0.0739	.	110;110;110	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	H	110	ENSP00000390481:R110H;ENSP00000310658:R110H;ENSP00000415187:R110H;ENSP00000429969:R110H	ENSP00000310658:R110H	R	-	2	0	SCUBE2	9057560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.779000	0.62375	2.676000	0.91093	0.655000	0.94253	CGT		0.428	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
TMEM41B	440026	broad.mit.edu	37	11	9308005	9308005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9308005G>T	ENST00000528080.1	-	6	1041	c.703C>A	c.(703-705)Cta>Ata	p.L235I	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	235					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.L235I(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCTTACCTAGAAAAGTACCA	0.373																																					p.L235I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703A	11						.						104.0	102.0	103.0					11																	9308005		2201	4296	6497	9264581	SO:0001583	missense	440026	exon6			D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.703C>A	11.37:g.9308005G>T	ENSP00000433126:p.Leu235Ile		9264581	NM_015012	D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248685	0.22880	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.58940	0.3;0.3	5.45	4.53	0.55603	.	0.066647	0.64402	D	0.000009	T	0.36771	0.0979	N	0.11284	0.12	0.80722	D	1	B	0.09022	0.002	B	0.20577	0.03	T	0.15178	-1.0446	10	0.12430	T	0.62	.	13.6437	0.62267	0.0:0.0:0.7181:0.2819	.	235	Q5BJD5	TM41B_HUMAN	I	235	ENSP00000299596:L235I;ENSP00000433126:L235I	ENSP00000299596:L235I	L	-	1	2	TMEM41B	9264581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.763000	0.55257	1.435000	0.47434	0.585000	0.79938	CTA		0.373	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2		
IPO7	10527	broad.mit.edu	37	11	9459657	9459657	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9459657A>G	ENST00000379719.3	+	22	2662	c.2520A>G	c.(2518-2520)ggA>ggG	p.G840G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	840					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.G840G(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTGTTCTCGGACTCTGTGCTC	0.318																																					p.G840G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2520G	11						.						134.0	145.0	141.0					11																	9459657		2201	4294	6495	9416233	SO:0001819	synonymous_variant	10527	exon22			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2520A>G	11.37:g.9459657A>G			9416233	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	CCDS31425.1																																																																																				0.318	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	
ZNF143	7702	broad.mit.edu	37	11	9537756	9537756	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9537756A>G	ENST00000396602.2	+	14	1652	c.1533A>G	c.(1531-1533)atA>atG	p.I511M	ZNF143_ENST00000530463.1_Missense_Mutation_p.I510M|ZNF143_ENST00000396597.3_Missense_Mutation_p.I480M|ZNF143_ENST00000396604.1_Missense_Mutation_p.I510M|ZNF143_ENST00000299606.2_Missense_Mutation_p.I483M	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	511					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I511M(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AGGTCAACATATCTCAAGCTG	0.453																																					p.I511M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1533G	11						.						109.0	81.0	90.0					11																	9537756		2201	4294	6495	9494332	SO:0001583	missense	7702	exon14			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1533A>G	11.37:g.9537756A>G	ENSP00000379847:p.Ile511Met		9494332	NM_003442	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	CCDS7799.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.37|17.37	3.373511|3.373511	0.61624|0.61624	.|.	.|.	ENSG00000166478|ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000396597;ENST00000299606|ENST00000447186	T;T;T;T;T|T	0.10573|0.51071	2.86;2.87;2.86;2.91;2.92|0.72	5.92|5.92	3.43|3.43	0.39272|0.39272	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.24115|0.24115	0.695|0.695	0.44871|0.44871	D|D	0.997889|0.997889	P;P;P|.	0.49635|.	0.926;0.879;0.879|.	P;B;B|.	0.49999|.	0.628;0.328;0.328|.	T|T	0.27706|0.27706	-1.0066|-1.0066	10|8	0.35671|0.59425	T|D	0.21|0.04	.|.	7.4227|7.4227	0.27081|0.27081	0.6078:0.2605:0.0:0.1316|0.6078:0.2605:0.0:0.1316	.|.	480;510;511|.	P52747-2;E7ER34;P52747|.	.;.;ZN143_HUMAN|.	M|V	510;511;510;480;483|37	ENSP00000379849:I510M;ENSP00000379847:I511M;ENSP00000432154:I510M;ENSP00000379843:I480M;ENSP00000299606:I483M|ENSP00000401493:I37V	ENSP00000299606:I483M|ENSP00000401493:I37V	I|I	+|+	3|1	3|0	ZNF143|ZNF143	9494332|9494332	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.479000|0.479000	0.22228|0.22228	1.024000|1.024000	0.39682|0.39682	0.533000|0.533000	0.62120|0.62120	ATA|ATC		0.453	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442	
SBF2	81846	broad.mit.edu	37	11	9806724	9806724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9806724G>A	ENST00000256190.8	-	37	5316	c.5179C>T	c.(5179-5181)Cga>Tga	p.R1727*	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1727					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1727*(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GCTGCTCTTCGCTCCACTCCA	0.522																																					p.R1727X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5179T	11						.						154.0	121.0	132.0					11																	9806724		2201	4294	6495	9763300	SO:0001587	stop_gained	81846	exon37			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.5179C>T	11.37:g.9806724G>A	ENSP00000256190:p.Arg1727*		9763300	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	46	12.791679	0.99696	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	.	.	.	6.07	5.11	0.69529	.	0.094578	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.6162	0.56578	0.0:0.0:0.6873:0.3127	.	.	.	.	X	1727;115	.	ENSP00000256190:R1727X	R	-	1	2	SBF2	9763300	1.000000	0.71417	0.994000	0.49952	0.803000	0.45373	4.610000	0.61155	2.885000	0.99019	0.655000	0.94253	CGA		0.522	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
SBF2	81846	broad.mit.edu	37	11	9853897	9853897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:9853897G>A	ENST00000256190.8	-	27	3663	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1176	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1176*(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGATTGTGTCGATAGCAGCGA	0.473																																					p.R1176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3526T	11						.						121.0	105.0	110.0					11																	9853897		2201	4294	6495	9810473	SO:0001587	stop_gained	81846	exon27			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3526C>T	11.37:g.9853897G>A	ENSP00000256190:p.Arg1176*		9810473	NM_030962	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	44	10.715846	0.99455	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6961	0.77499	0.0:0.0:0.8625:0.1375	.	.	.	.	X	1176	.	ENSP00000256190:R1176X	R	-	1	2	SBF2	9810473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.217000	0.58547	2.835000	0.97688	0.591000	0.81541	CGA		0.473	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
PTH	5741	broad.mit.edu	37	11	13514157	13514157	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:13514157G>A	ENST00000282091.1	-	3	257	c.143C>T	c.(142-144)tCg>tTg	p.S48L	PTH_ENST00000529816.1_Missense_Mutation_p.S48L	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	48					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.S48L(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		TCTCTCCATCGAGTTCAGATG	0.498																																					p.S48L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C143T	11						.						86.0	88.0	88.0					11																	13514157		2200	4294	6494	13470733	SO:0001583	missense	5741	exon3			J00301	CCDS7812.1	11p15.3-p15.1	2013-02-28				ENSG00000152266		"""Endogenous ligands"""	9606	protein-coding gene	gene with protein product	"""parathyrin"", ""parathormone"", ""parathyroid hormone 1"", ""preproparathyroid hormone"", ""prepro-PTH"""	168450				1672845	Standard	NM_000315		Approved	PTH1	uc001mlb.3	P01270		ENST00000282091.1:c.143C>T	11.37:g.13514157G>A	ENSP00000282091:p.Ser48Leu		13470733	NM_000315	Q4VB48|Q9UD38	Missense_Mutation	SNP	ENST00000282091.1	37	CCDS7812.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351603	0.24512	.	.	ENSG00000152266	ENST00000282091;ENST00000529816	D;D	0.83163	-1.69;-1.69	5.24	2.14	0.27477	.	0.777662	0.12188	N	0.491515	T	0.73984	0.3657	L	0.53249	1.67	0.09310	N	1	B	0.24576	0.106	B	0.15484	0.013	T	0.57312	-0.7833	10	0.19147	T	0.46	0.4047	6.0101	0.19571	0.1794:0.0:0.6676:0.1529	.	48	P01270	PTHY_HUMAN	L	48	ENSP00000282091:S48L;ENSP00000433208:S48L	ENSP00000282091:S48L	S	-	2	0	PTH	13470733	0.000000	0.05858	0.012000	0.15200	0.961000	0.63080	0.642000	0.24735	1.354000	0.45846	0.650000	0.86243	TCG		0.498	PTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386198.1	NM_000315	
SPON1	10418	broad.mit.edu	37	11	14096949	14096949	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:14096949G>T	ENST00000310358.7	+	0	1075							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.K179N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CTCTGACCAAGAAACTTTGTG	0.517																																					p.K179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G537T	11						.						46.0	41.0	43.0					11																	14096949		1891	4099	5990	14053525			10418	exon4			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14096949G>T			14053525	NM_006108	A8K6W5|O94862|Q8NCD7|Q8WUR5	Missense_Mutation	SNP	ENST00000310358.7	37		.	.	.	.	.	.	.	.	.	.	G	19.05	3.751233	0.69533	.	.	ENSG00000152268	ENST00000310358	.	.	.	6.03	5.11	0.69529	Reeler domain (1);	0.229807	0.41500	D	0.000871	T	0.51635	0.1686	M	0.82193	2.58	0.58432	D	0.999993	P	0.52316	0.952	B	0.34779	0.189	T	0.72487	-0.4278	8	0.56958	D	0.05	.	12.9645	0.58475	0.0778:0.0:0.9222:0.0	.	179	Q9HCB6	SPON1_HUMAN	N	179	.	ENSP00000309297:K179N	K	+	3	2	SPON1	14053525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.625000	0.61262	1.547000	0.49401	0.655000	0.94253	AAG		0.517	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584	
RRAS2	22800	broad.mit.edu	37	11	14317365	14317365	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:14317365C>A	ENST00000256196.4	-	2	458	c.145G>T	c.(145-147)Gat>Tat	p.D49Y	RRAS2_ENST00000545643.1_Missense_Mutation_p.D55Y|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.D14Y			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	49					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D49Y(1)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTGTAAGAATCTTCAATGGTT	0.343																																					p.D49Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G145T	11						.						129.0	132.0	131.0					11																	14317365		2200	4294	6494	14273941	SO:0001583	missense	22800	exon2			M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.145G>T	11.37:g.14317365C>A	ENSP00000256196:p.Asp49Tyr		14273941	NM_012250	B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487131	0.84854	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.82	4.82	0.62117	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94745	0.8304	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96887	0.9650	10	0.87932	D	0	.	17.8569	0.88767	0.0:1.0:0.0:0.0	.	55;49	B7Z5Z2;P62070	.;RRAS2_HUMAN	Y	14;55;49;30	ENSP00000437547:D14Y;ENSP00000441722:D55Y;ENSP00000256196:D49Y;ENSP00000435453:D30Y	ENSP00000256196:D49Y	D	-	1	0	RRAS2	14273941	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.531000	0.81973	2.382000	0.81193	0.313000	0.20887	GAT		0.343	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	
COPB1	1315	broad.mit.edu	37	11	14501200	14501200	+	Missense_Mutation	SNP	G	G	A	rs377571611		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:14501200G>A	ENST00000249923.3	-	11	1573	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	COPB1_ENST00000439561.2_Missense_Mutation_p.R425C|RNU7-49P_ENST00000516182.1_RNA	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	425					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R425C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATGGCTTCACGAACAAACTCC	0.343																																					p.R425C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1273T	11						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4400		0,0,2200	73.0	74.0	74.0		1273,1273,1273	5.9	1.0	11		74	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense	COPB1	NM_001144061.1,NM_001144062.1,NM_016451.4	180,180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	425/954,425/954,425/954	14501200	1,12987	2200	4294	6494	14457776	SO:0001583	missense	1315	exon11			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1273C>T	11.37:g.14501200G>A	ENSP00000249923:p.Arg425Cys		14457776	NM_016451	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373147	0.95923	0.0	1.16E-4	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27557	1.66;1.66;1.66	5.92	5.92	0.95590	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77451	-0.2583	10	0.87932	D	0	-0.1037	20.3343	0.98733	0.0:0.0:1.0:0.0	.	425	P53618	COPB_HUMAN	C	425	ENSP00000249923:R425C;ENSP00000397873:R425C;ENSP00000436383:R425C	ENSP00000249923:R425C	R	-	1	0	COPB1	14457776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.822000	0.97130	0.650000	0.86243	CGT		0.343	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
COPB1	1315	broad.mit.edu	37	11	14515779	14515779	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:14515779G>T	ENST00000249923.3	-	3	598	c.298C>A	c.(298-300)Ctt>Att	p.L100I	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L100I|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	100					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.L100I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCACATACAAGGATCATCTCA	0.328																																					p.L100I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298A	11						.						74.0	76.0	75.0					11																	14515779		2198	4294	6492	14472355	SO:0001583	missense	1315	exon3			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.298C>A	11.37:g.14515779G>T	ENSP00000249923:p.Leu100Ile		14472355	NM_016451	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695772	0.88830	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.48	5.48	0.80851	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84840	0.0807	10	0.87932	D	0	.	19.3442	0.94357	0.0:0.0:1.0:0.0	.	100	P53618	COPB_HUMAN	I	100	ENSP00000249923:L100I;ENSP00000397873:L100I;ENSP00000436383:L100I;ENSP00000431530:L100I;ENSP00000436401:L100I	ENSP00000249923:L100I	L	-	1	0	COPB1	14472355	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.657000	0.67996	2.567000	0.86603	0.655000	0.94253	CTT		0.328	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451	
CALCB	797	broad.mit.edu	37	11	15096614	15096614	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:15096614C>A	ENST00000533448.1	+	3	205	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	CALCB_ENST00000324229.6_Missense_Mutation_p.L32M|CALCB_ENST00000523376.1_Missense_Mutation_p.L43M			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	32					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.L32M(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CAGGTCTGCCCTGGAGAGCAG	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L32M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94A	11						.						53.0	56.0	55.0					11																	15096614		2200	4294	6494	15053190	SO:0001583	missense	797	exon3				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.94C>A	11.37:g.15096614C>A	ENSP00000433490:p.Leu32Met	700	15053190	NM_000728	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841245	0.71488	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.37058	1.22;1.22;1.22	5.41	-5.49	0.02584	.	0.562827	0.14959	N	0.288462	T	0.50069	0.1594	M	0.89414	3.03	0.09310	N	0.999997	P	0.51147	0.942	P	0.62014	0.897	T	0.44112	-0.9349	10	0.66056	D	0.02	-3.0046	1.8752	0.03217	0.2077:0.3556:0.1148:0.3218	.	32	P10092	CALCB_HUMAN	M	43;32;32	ENSP00000428882:L43M;ENSP00000346017:L32M;ENSP00000433490:L32M	ENSP00000346017:L32M	L	+	1	2	CALCB	15053190	0.734000	0.28142	0.002000	0.10522	0.394000	0.30568	0.527000	0.22987	-1.237000	0.02539	0.561000	0.74099	CTG		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728	
SOX6	55553	broad.mit.edu	37	11	16362605	16362605	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:16362605G>T	ENST00000352083.6	-	2	267	c.190C>A	c.(190-192)Caa>Aaa	p.Q64K	SOX6_ENST00000396356.3_Missense_Mutation_p.Q64K|SOX6_ENST00000316399.6_Missense_Mutation_p.Q64K|SOX6_ENST00000528252.1_Missense_Mutation_p.Q64K|SOX6_ENST00000528429.1_Missense_Mutation_p.Q64K|SOX6_ENST00000527619.1_Missense_Mutation_p.Q67K|SOX6_ENST00000533658.1_5'UTR			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	64					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q64K(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCATCTTGTTGAATGGTACTG	0.478																																					p.Q64K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190A	11						.						251.0	198.0	216.0					11																	16362605		2200	4294	6494	16319181	SO:0001583	missense	55553	exon2			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.190C>A	11.37:g.16362605G>T	ENSP00000339876:p.Gln64Lys		16319181	NM_033326	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	G	17.31	3.357342	0.61293	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673;ENST00000529469	D;D;D;D;D;D	0.97598	-4.45;-4.44;-4.45;-4.44;-4.44;-4.44	5.18	5.18	0.71444	.	0.075171	0.56097	D	0.000035	D	0.93838	0.8029	L	0.27053	0.805	0.45867	D	0.99872	B;B;B;B;B	0.33549	0.07;0.114;0.162;0.07;0.417	B;B;B;B;B	0.30495	0.033;0.033;0.048;0.039;0.116	D	0.93259	0.6641	10	0.49607	T	0.09	.	18.2917	0.90133	0.0:0.0:1.0:0.0	.	64;64;64;64;67	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	K	64;64;64;64;67;64;64;64;64	ENSP00000324948:Q64K;ENSP00000339876:Q64K;ENSP00000379644:Q64K;ENSP00000432134:Q64K;ENSP00000434455:Q67K;ENSP00000433233:Q64K	ENSP00000324948:Q64K	Q	-	1	0	SOX6	16319181	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.397000	0.81536	0.467000	0.42956	CAA		0.478	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
PLEKHA7	144100	broad.mit.edu	37	11	16816563	16816563	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:16816563C>A	ENST00000355661.3	-	18	2422	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E804D|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E804D|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	804					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.E804D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTGCGATTTCTCCTGAGGAA	0.448																																					p.E804D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2412T	11						.						162.0	145.0	151.0					11																	16816563		2200	4294	6494	16773139	SO:0001583	missense	144100	exon18			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2412G>T	11.37:g.16816563C>A	ENSP00000347883:p.Glu804Asp		16773139	NM_175058	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.179336|3.179336	0.57800|0.57800	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581|ENST00000530489	T;T;T;T|.	0.41758|.	1.15;1.15;1.15;0.99|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.088563|.	0.85682|.	N|.	0.000000|.	T|T	0.65626|0.65626	0.2709|0.2709	L|L	0.60455|0.60455	1.87|1.87	0.46203|0.46203	D|D	0.998924|0.998924	B;B;P;B|.	0.43094|.	0.111;0.162;0.799;0.313|.	B;B;B;B|.	0.37650|.	0.148;0.051;0.255;0.133|.	T|T	0.62329|0.62329	-0.6877|-0.6877	10|5	0.21014|.	T|.	0.42|.	-33.2724|-33.2724	13.3367|13.3367	0.60522|0.60522	0.0:0.9276:0.0:0.0724|0.0:0.9276:0.0:0.0724	.|.	378;804;804;804|.	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2|.	.;.;PKHA7_HUMAN;.|.	D|I	804;804;804;135|435	ENSP00000435389:E804D;ENSP00000347883:E804D;ENSP00000416895:E804D;ENSP00000431455:E135D|.	ENSP00000347883:E804D|.	E|R	-|-	3|2	2|0	PLEKHA7|PLEKHA7	16773139|16773139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.418000|2.418000	0.44662|0.44662	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.448	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058	
PIK3C2A	5286	broad.mit.edu	37	11	17121459	17121459	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17121459C>A	ENST00000265970.7	-	25	4065	c.4066G>T	c.(4066-4068)Gat>Tat	p.D1356Y	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.D976Y	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1356	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.D1356Y(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGAAGTGCATCTCTAACGTAT	0.313																																					p.D1356Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4066T	11						.						125.0	127.0	126.0					11																	17121459		2200	4292	6492	17078035	SO:0001583	missense	5286	exon25			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4066G>T	11.37:g.17121459C>A	ENSP00000265970:p.Asp1356Tyr		17078035	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310439	0.81358	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	D;D	0.82893	-1.66;-1.66	5.43	5.43	0.79202	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.086868	0.85682	D	0.000000	D	0.93112	0.7807	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93965	0.7244	10	0.87932	D	0	-6.2936	19.6092	0.95599	0.0:1.0:0.0:0.0	.	1356	O00443	P3C2A_HUMAN	Y	1356;976	ENSP00000265970:D1356Y;ENSP00000438687:D976Y	ENSP00000265970:D1356Y	D	-	1	0	PIK3C2A	17078035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.711000	0.92665	0.655000	0.94253	GAT		0.313	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
PIK3C2A	5286	broad.mit.edu	37	11	17140199	17140199	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17140199A>G	ENST00000265970.7	-	17	3027	c.3028T>C	c.(3028-3030)Tta>Cta	p.L1010L	PIK3C2A_ENST00000531428.1_Intron|RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000540361.1_Silent_p.L630L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1010	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.L1010L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TACCAATATAAATTGTGTGCT	0.318																																					p.L1010L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3028C	11						.						74.0	79.0	77.0					11																	17140199		2200	4281	6481	17096775	SO:0001819	synonymous_variant	5286	exon17			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3028T>C	11.37:g.17140199A>G			17096775	NM_002645	B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	CCDS7824.1																																																																																				0.318	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
NUCB2	4925	broad.mit.edu	37	11	17351716	17351716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17351716G>T	ENST00000529010.1	+	12	1264	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	NUCB2_ENST00000323688.6_Nonsense_Mutation_p.E349*|NUCB2_ENST00000458064.2_Nonsense_Mutation_p.E319*	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	349	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.E349*(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAACTAAAAGAATATGAAAA	0.308																																					p.E349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1045T	11						.						31.0	29.0	30.0					11																	17351716		1818	4073	5891	17308292	SO:0001587	stop_gained	4925	exon12			AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1045G>T	11.37:g.17351716G>T	ENSP00000436455:p.Glu349*		17308292	NM_005013	A8K642|D3DQX5|Q8NFT5	Nonsense_Mutation	SNP	ENST00000529010.1	37	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.842348|6.842348	0.97877|0.97877	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.046069|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63733	.|0.2536	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69087	.|-0.5238	.|3	0.42905|.	T|.	0.14|.	-14.1579|-14.1579	13.0867|13.0867	0.59144|0.59144	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|.	.|.	.|.	X|I	349;349;319|126	.|.	ENSP00000320168:E349X|.	E|R	+|+	1|2	0|0	NUCB2|NUCB2	17308292|17308292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.024000|7.024000	0.76443|0.76443	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.308	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013	
ABCC8	6833	broad.mit.edu	37	11	17415271	17415271	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17415271G>A	ENST00000389817.3	-	38	4649	c.4581C>T	c.(4579-4581)ttC>ttT	p.F1527F	ABCC8_ENST00000302539.4_Silent_p.F1528F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1527	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.F1527F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGCGGTCTGCGAAGGCTGTCA	0.617																																					p.F1527F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4581T	11						.						224.0	187.0	199.0					11																	17415271		2200	4293	6493	17371847	SO:0001819	synonymous_variant	6833	exon38			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4581C>T	11.37:g.17415271G>A			17371847	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	CCDS31437.1																																																																																				0.617	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
USH1C	10083	broad.mit.edu	37	11	17531073	17531073	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17531073C>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.D615Y|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.D615Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGAGTGAGGTCTTGGGTGGGA	0.642																																					p.D615Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1843T	11						.						34.0	35.0	35.0					11																	17531073		2200	4293	6493	17487649	SO:0001627	intron_variant	10083	exon18			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7546G>T	11.37:g.17531073C>A			17487649	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110624	0.37242	.	.	ENSG00000006611	ENST00000005226	T	0.40756	1.02	5.93	4.08	0.47627	.	0.462111	0.24518	N	0.037827	T	0.27967	0.0689	.	.	.	0.25312	N	0.989197	P	0.41265	0.744	B	0.34038	0.174	T	0.23332	-1.0191	9	0.56958	D	0.05	.	7.9787	0.30170	0.0:0.6095:0.3104:0.0801	.	615	Q7RTU8	.	Y	615	ENSP00000005226:D615Y	ENSP00000005226:D615Y	D	-	1	0	USH1C	17487649	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.248000	0.18198	1.534000	0.49203	-0.188000	0.12872	GAC		0.642	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
USH1C	10083	broad.mit.edu	37	11	17532023	17532023	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17532023G>T	ENST00000318024.4	-	15	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.Q487K|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.Q487K(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACCCAATATTGAATCTTTTCC	0.493																																					p.Q487K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1459A	11						.						74.0	65.0	68.0					11																	17532023		2200	4293	6493	17488599	SO:0001627	intron_variant	10083	exon17			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+6924C>A	11.37:g.17532023G>T			17488599	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323364	0.95708	.	.	ENSG00000006611	ENST00000005226	T	0.63580	-0.05	5.92	5.92	0.95590	.	0.167646	0.39985	N	0.001210	T	0.80099	0.4561	.	.	.	0.45541	D	0.998491	D	0.63880	0.993	D	0.67548	0.952	T	0.80834	-0.1205	9	0.66056	D	0.02	.	19.0921	0.93231	0.0:0.0:1.0:0.0	.	487	Q7RTU8	.	K	487	ENSP00000005226:Q487K	ENSP00000005226:Q487K	Q	-	1	0	USH1C	17488599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.570000	0.90748	2.813000	0.96785	0.561000	0.74099	CAA		0.493	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
USH1C	10083	broad.mit.edu	37	11	17542514	17542514	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17542514C>A	ENST00000318024.4	-	14	1221	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	USH1C_ENST00000527020.1_Missense_Mutation_p.K352N|USH1C_ENST00000527720.1_Missense_Mutation_p.K340N|USH1C_ENST00000005226.7_Missense_Mutation_p.K371N	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	371					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.K371N(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCCATTGCTTCTTAAACTTCT	0.502																																					p.K371N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1113T	11						.						423.0	434.0	430.0					11																	17542514		2200	4293	6493	17499090	SO:0001583	missense	10083	exon14			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1113G>T	11.37:g.17542514C>A	ENSP00000317018:p.Lys371Asn		17499090	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804117	0.50315	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.66099	1.7;1.68;1.86;-0.19	5.88	4.96	0.65561	.	0.410430	0.31370	N	0.007778	T	0.44953	0.1318	N	0.19112	0.55	0.31537	N	0.660447	B;B;B	0.14438	0.01;0.006;0.004	B;B;B	0.12837	0.006;0.004;0.008	T	0.46498	-0.9187	10	0.37606	T	0.19	.	10.2257	0.43225	0.0:0.8568:0.0:0.1432	.	352;371;371	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	N	371;340;352;371	ENSP00000317018:K371N;ENSP00000432944:K340N;ENSP00000436934:K352N;ENSP00000005226:K371N	ENSP00000005226:K371N	K	-	3	2	USH1C	17499090	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.812000	0.27211	2.790000	0.95986	0.591000	0.81541	AAG		0.502	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
KCNC1	3746	broad.mit.edu	37	11	17794164	17794164	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:17794164G>A	ENST00000379472.3	+	2	1553	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	KCNC1_ENST00000265969.6_Intron	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	508					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.G508D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCTCTTAGAGGCATGTCGATC	0.522																																					p.G508D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523A	11						.						59.0	60.0	60.0					11																	17794164		2200	4290	6490	17750740	SO:0001583	missense	3746	exon2			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1523G>A	11.37:g.17794164G>A	ENSP00000368785:p.Gly508Asp		17750740	NM_004976	K4DI87	Intron	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703908	0.48412	.	.	ENSG00000129159	ENST00000379472	D	0.97138	-4.26	5.42	5.42	0.78866	.	2.715750	0.00897	N	0.002306	D	0.98036	0.9353	M	0.75264	2.295	0.47737	D	0.999506	D	0.61080	0.989	P	0.49665	0.618	D	0.90470	0.4452	9	.	.	.	.	19.2221	0.93801	0.0:0.0:1.0:0.0	.	508	P48547	KCNC1_HUMAN	D	508	ENSP00000368785:G508D	.	G	+	2	0	KCNC1	17750740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.976000	0.63785	2.530000	0.85305	0.561000	0.74099	GGC		0.522	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
SERGEF	26297	broad.mit.edu	37	11	18014478	18014478	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18014478C>A	ENST00000265965.5	-	7	836	c.685G>T	c.(685-687)Gat>Tat	p.D229Y	SERGEF_ENST00000532265.1_Splice_Site_p.D115Y|SERGEF_ENST00000528200.1_Splice_Site_p.D229Y	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	229					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.D229Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TGGTACCTACCTGTTAATGAA	0.383																																					p.D229Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685T	11						.						121.0	107.0	112.0					11																	18014478		2200	4293	6493	17971054	SO:0001630	splice_region_variant	26297	exon7			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.685+1G>T	11.37:g.18014478C>A			17971054	NM_012139	Q9UGK9	Missense_Mutation	SNP	ENST00000265965.5	37	CCDS7828.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.78|18.78|18.78	3.696965|3.696965|3.696965	0.68386|0.68386|0.68386	.|.|.	.|.|.	ENSG00000129158|ENSG00000129158|ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389|ENST00000525920|ENST00000529151	T;T;T;T;T;T|T|.	0.80994|0.33654|.	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44|1.4|.	5.19|5.19|5.19	5.19|5.19|5.19	0.71726|0.71726|0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.|.	0.355374|.|.	0.32608|.|.	N|.|.	0.005867|.|.	T|T|T	0.70850|0.70850|0.70850	0.3271|0.3271|0.3271	L|L|L	0.60067|0.60067|0.60067	1.865|1.865|1.865	0.45272|0.45272|0.45272	D|D|D	0.998278|0.998278|0.998278	D;D;D;D|.|.	0.89917|.|.	0.994;0.999;0.997;1.0|.|.	D;D;D;D|.|.	0.79108|.|.	0.925;0.983;0.916;0.992|.|.	T|T|T	0.67787|0.67787|0.67787	-0.5580|-0.5580|-0.5580	9|6|5	.|.|.	.|.|.	.|.|.	-17.8917|-17.8917|-17.8917	16.1002|16.1002|16.1002	0.81166|0.81166|0.81166	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	115;115;229;229|.|.	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8|.|.	.;.;.;SRGEF_HUMAN|.|.	Y|C|H	229;229;115;115;115;115|99|92	ENSP00000265965:D229Y;ENSP00000434188:D229Y;ENSP00000431314:D115Y;ENSP00000437297:D115Y;ENSP00000436080:D115Y;ENSP00000435898:D115Y|ENSP00000436648:G99C|.	.|.|.	D|G|Q	-|-|-	1|1|3	0|0|2	SERGEF|SERGEF|SERGEF	17971054|17971054|17971054	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.738000|0.738000|0.738000	0.42128|0.42128|0.42128	4.473000|4.473000|4.473000	0.60196|0.60196|0.60196	2.865000|2.865000|2.865000	0.98341|0.98341|0.98341	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|GGT|CAG		0.383	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	Missense_Mutation
TPH1	7166	broad.mit.edu	37	11	18062235	18062235	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18062235C>A	ENST00000250018.2	-	1	637	c.75G>T	c.(73-75)aaG>aaT	p.K25N	TPH1_ENST00000341556.2_Missense_Mutation_p.K25N	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	25	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.K25N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CAACTTCATTCTTTAAGGAAA	0.323																																					p.K25N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	11						.						51.0	47.0	49.0					11																	18062235		2198	4290	6488	18018811	SO:0001583	missense	7166	exon1			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.75G>T	11.37:g.18062235C>A	ENSP00000250018:p.Lys25Asn		18018811	NM_004179	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318953	0.41096	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99143	-5.48;-5.48;-5.48	5.28	2.31	0.28768	Amino acid-binding ACT (1);	0.089139	0.85682	D	0.000000	D	0.97161	0.9072	M	0.62723	1.935	0.52099	D	0.999942	B	0.14438	0.01	B	0.21917	0.037	D	0.93215	0.6603	10	0.41790	T	0.15	-7.232	6.0048	0.19541	0.1299:0.6457:0.0:0.2244	.	25	P17752	TPH1_HUMAN	N	25;25;35	ENSP00000250018:K25N;ENSP00000343550:K25N;ENSP00000436081:K35N	ENSP00000250018:K25N	K	-	3	2	TPH1	18018811	0.998000	0.40836	0.999000	0.59377	0.716000	0.41182	0.702000	0.25631	0.194000	0.20326	-0.424000	0.05967	AAG		0.323	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	
SAAL1	113174	broad.mit.edu	37	11	18105238	18105238	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18105238T>G	ENST00000524803.1	-	10	1132	c.1083A>C	c.(1081-1083)caA>caC	p.Q361H	SAAL1_ENST00000529318.1_Missense_Mutation_p.Q363H|SAAL1_ENST00000300013.4_Missense_Mutation_p.Q360H			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	361								p.Q361H(1)		breast(2)|large_intestine(5)|lung(8)	15						GTTCCATATTTTGTAAGACCC	0.368																																					p.Q361H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1083C	11						.						111.0	106.0	108.0					11																	18105238		2200	4293	6493	18061814	SO:0001583	missense	113174	exon10			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1083A>C	11.37:g.18105238T>G	ENSP00000432487:p.Gln361His		18061814	NM_138421	A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515746	0.44763	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318	T;T;T	0.36340	1.34;1.34;1.26	5.99	4.81	0.61882	Armadillo-like helical (1);	0.844921	0.11039	N	0.606397	T	0.29126	0.0724	L	0.27053	0.805	0.28564	N	0.910983	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.004	T	0.10683	-1.0619	10	0.45353	T	0.12	-1.2183	13.3415	0.60547	0.0:0.0:0.14:0.86	.	363;361;361	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	H	361;360;363	ENSP00000432487:Q361H;ENSP00000300013:Q360H;ENSP00000432216:Q363H	ENSP00000300013:Q360H	Q	-	3	2	SAAL1	18061814	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	1.958000	0.40402	2.291000	0.77112	0.533000	0.62120	CAA		0.368	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	
MRGPRX3	117195	broad.mit.edu	37	11	18159482	18159482	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18159482G>A	ENST00000396275.2	+	3	1094	c.733G>A	c.(733-735)Gat>Aat	p.D245N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D245N(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GATCCACCTGGATTGGAAAGT	0.512																																					p.D245N												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G733A	11						.						107.0	103.0	105.0					11																	18159482		2200	4293	6493	18116058	SO:0001583	missense	117195	exon3				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.733G>A	11.37:g.18159482G>A	ENSP00000379571:p.Asp245Asn		18116058	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786108	0.16189	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.70986	-0.53;4.24	0.956	0.956	0.19608	GPCR, rhodopsin-like superfamily (1);	2.700440	0.01045	N	0.004375	T	0.54870	0.1885	N	0.20357	0.565	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.38112	-0.9676	10	0.22706	T	0.39	.	5.2081	0.15302	0.0:0.0:1.0:0.0	.	245	Q96LB0	MRGX3_HUMAN	N	245	ENSP00000379571:D245N;ENSP00000436242:D245N	ENSP00000379571:D245N	D	+	1	0	MRGPRX3	18116058	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-1.323000	0.02692	0.796000	0.33947	0.195000	0.17529	GAT		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
SAA4	6291	broad.mit.edu	37	11	18257431	18257431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18257431C>A	ENST00000278222.4	-	2	223	c.43G>T	c.(43-45)Gga>Tga	p.G15*	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	15					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.G15*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						CTGGTGACTCCCATGACCAAG	0.468																																					p.G15X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G43T	11						.						121.0	116.0	117.0					11																	18257431		2199	4293	6492	18214007	SO:0001587	stop_gained	6291	exon2			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.43G>T	11.37:g.18257431C>A	ENSP00000278222:p.Gly15*		18214007	NM_006512	Q6FHJ4	Nonsense_Mutation	SNP	ENST00000278222.4	37	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305145	0.95601	.	.	ENSG00000148965	ENST00000278222	.	.	.	3.81	2.84	0.33178	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.4048	8.7793	0.34781	0.2268:0.7732:0.0:0.0	.	.	.	.	X	15	.	ENSP00000278222:G15X	G	-	1	0	SAA4	18214007	0.047000	0.20315	0.620000	0.29132	0.327000	0.28475	0.919000	0.28692	0.834000	0.34852	0.585000	0.79938	GGA		0.468	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512	
SAA1	6288	broad.mit.edu	37	11	18288472	18288472	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18288472T>C	ENST00000405158.2	+	2	222	c.38T>C	c.(37-39)gTc>gCc	p.V13A	SAA1_ENST00000356524.4_Missense_Mutation_p.V13A|SAA1_ENST00000532858.1_Missense_Mutation_p.V13A|RNA5SP334_ENST00000364825.1_RNA	NM_000331.4	NP_000322	P0DJI8	SAA1_HUMAN	serum amyloid A1	13					acute-phase response (GO:0006953)|innate immune response (GO:0045087)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of inflammatory response (GO:0050728)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of interleukin-1 secretion (GO:0050716)|regulation of protein secretion (GO:0050708)	endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)	p.V13A(1)		endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGCTCCTTGGTCCTGGGTGTC	0.522																																					p.V13A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38C	11						.						138.0	123.0	128.0					11																	18288472		2198	4291	6489	18245048	SO:0001583	missense	6288	exon2			M10906	CCDS7835.1	11p15.1	2014-01-30			ENSG00000173432	ENSG00000173432		"""Endogenous ligands"""	10513	protein-coding gene	gene with protein product		104750		SAA		2595451, 9305847	Standard	NM_199161		Approved	PIG4, TP53I4	uc021qeo.1	P0DJI8	OTTHUMG00000166147	ENST00000405158.2:c.38T>C	11.37:g.18288472T>C	ENSP00000384906:p.Val13Ala		18245048	NM_000331	P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000405158.2	37	CCDS7835.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.284077	0.23392	.	.	ENSG00000173432	ENST00000356524;ENST00000532858;ENST00000405158	T;T;T	0.10288	2.89;2.89;2.89	3.67	1.24	0.21308	.	0.282600	0.28042	N	0.016840	T	0.11410	0.0278	M	0.75085	2.285	0.09310	N	1	B;B	0.22909	0.001;0.077	B;B	0.18263	0.001;0.021	T	0.22173	-1.0224	10	0.59425	D	0.04	.	3.8316	0.08876	0.0:0.1178:0.2194:0.6629	.	13;13	D3DQX7;P02735	.;SAA_HUMAN	A	13	ENSP00000348918:V13A;ENSP00000436866:V13A;ENSP00000384906:V13A	ENSP00000348918:V13A	V	+	2	0	SAA1	18245048	0.403000	0.25319	0.001000	0.08648	0.087000	0.18053	0.704000	0.25661	0.254000	0.21573	0.374000	0.22700	GTC		0.522	SAA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395864.1	NM_199161	
HPS5	11234	broad.mit.edu	37	11	18318408	18318408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18318408C>A	ENST00000349215.3	-	12	1724	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	HPS5_ENST00000438420.2_Nonsense_Mutation_p.E369*|HPS5_ENST00000531848.1_Nonsense_Mutation_p.E369*|HPS5_ENST00000396253.3_Nonsense_Mutation_p.E369*|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	483					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E483*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAGGTGAATTCTTTAAATCTC	0.448									Hermansky-Pudlak syndrome																												p.E369X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1105T	11						.						188.0	174.0	179.0					11																	18318408		2199	4293	6492	18274984	SO:0001587	stop_gained	11234	exon11	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1447G>T	11.37:g.18318408C>A	ENSP00000265967:p.Glu483*		18274984	NM_181508	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Nonsense_Mutation	SNP	ENST00000349215.3	37	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	C	40	8.447732	0.98815	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	.	.	.	5.71	5.71	0.89125	.	0.107759	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	.	.	.	X	369;369;483;369	.	ENSP00000265967:E483X	E	-	1	0	HPS5	18274984	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.701000	0.92244	0.563000	0.77884	GAA		0.448	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
GTF2H1	2965	broad.mit.edu	37	11	18373950	18373950	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18373950G>T	ENST00000265963.4	+	11	1377	c.1217G>T	c.(1216-1218)aGt>aTt	p.S406I	GTF2H1_ENST00000526630.2_5'UTR|GTF2H1_ENST00000530496.2_Missense_Mutation_p.S94I|GTF2H1_ENST00000453096.2_Missense_Mutation_p.S406I|GTF2H1_ENST00000534641.1_Missense_Mutation_p.S290I	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	406					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S406I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TCTTTTCAAAGTATTAGACAA	0.383								Nucleotide excision repair (NER)																													p.S406I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1217T	11						.						153.0	152.0	153.0					11																	18373950		2199	4293	6492	18330526	SO:0001583	missense	2965	exon12				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1217G>T	11.37:g.18373950G>T	ENSP00000265963:p.Ser406Ile		18330526	NM_001142307	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104998	0.37145	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496	T;T;T;T	0.49139	1.85;1.84;1.85;0.79	6.06	6.06	0.98353	.	0.210279	0.56097	D	0.000031	T	0.43456	0.1248	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12656	-1.0539	10	0.33940	T	0.23	-18.2595	20.6208	0.99490	0.0:0.0:1.0:0.0	.	406	P32780	TF2H1_HUMAN	I	406;290;406;94	ENSP00000393638:S406I;ENSP00000435375:S290I;ENSP00000265963:S406I;ENSP00000433133:S94I	ENSP00000265963:S406I	S	+	2	0	GTF2H1	18330526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.002000	0.40835	2.882000	0.98803	0.655000	0.94253	AGT		0.383	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	
LDHAL6A	160287	broad.mit.edu	37	11	18500331	18500331	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18500331A>C	ENST00000280706.2	+	7	1710	c.913A>C	c.(913-915)Aaa>Caa	p.K305Q	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.K305Q	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	305					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)	p.K305Q(1)		large_intestine(3)|lung(9)|urinary_tract(1)	13						AGACCTCATAAAAGTAAAACT	0.393																																					p.K305Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A913C	11						.						148.0	160.0	156.0					11																	18500331		2199	4293	6492	18456907	SO:0001583	missense	160287	exon7			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.913A>C	11.37:g.18500331A>C	ENSP00000280706:p.Lys305Gln		18456907	NM_144972	D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241403	0.22711	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.67171	-0.25;-0.25	4.42	1.96	0.26148	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.340955	0.26840	U	0.022225	T	0.65069	0.2656	L	0.42686	1.345	0.29043	N	0.884999	P	0.50272	0.933	P	0.54544	0.755	T	0.59532	-0.7437	10	0.46703	T	0.11	.	6.5816	0.22598	0.6854:0.1607:0.0:0.1539	.	305	Q6ZMR3	LDH6A_HUMAN	Q	305	ENSP00000379516:K305Q;ENSP00000280706:K305Q	ENSP00000280706:K305Q	K	+	1	0	LDHAL6A	18456907	0.985000	0.35326	0.003000	0.11579	0.197000	0.23852	3.831000	0.55776	0.091000	0.17302	0.454000	0.30748	AAA		0.393	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972	
UEVLD	55293	broad.mit.edu	37	11	18566206	18566206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18566206C>A	ENST00000541984.1	-	6	615	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	UEVLD_ENST00000535484.1_Nonsense_Mutation_p.E304*|UEVLD_ENST00000543987.1_Nonsense_Mutation_p.E342*|UEVLD_ENST00000320750.6_Nonsense_Mutation_p.E320*|UEVLD_ENST00000379387.4_Nonsense_Mutation_p.E320*|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000396197.3_Nonsense_Mutation_p.E342*	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.E342*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACCCATACTTCTTTGCCTGAA	0.418																																					p.E342X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1024T	11						.						212.0	199.0	204.0					11																	18566206		2199	4293	6492	18522782	SO:0001587	stop_gained	55293	exon9			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.553G>T	11.37:g.18566206C>A	ENSP00000437538:p.Glu185*		18522782	NM_001040697		Nonsense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480500	0.96307	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110;ENST00000541984	.	.	.	5.74	2.84	0.33178	.	0.527621	0.21618	N	0.071686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.716	11.1296	0.48339	0.0:0.6816:0.2528:0.0656	.	.	.	.	X	342;304;342;320;320;119;185	.	ENSP00000323353:E320X	E	-	1	0	UEVLD	18522782	1.000000	0.71417	0.985000	0.45067	0.963000	0.63663	2.403000	0.44530	0.344000	0.23847	-0.142000	0.14014	GAA		0.418	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314	
SPTY2D1	144108	broad.mit.edu	37	11	18631437	18631437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18631437G>A	ENST00000336349.5	-	6	2264	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	677								p.R677*(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTGGCCCTTCGACGTTGCATT	0.418																																					p.R677X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2029T	11						.						210.0	201.0	204.0					11																	18631437		2199	4293	6492	18588013	SO:0001587	stop_gained	144108	exon6			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.2029C>T	11.37:g.18631437G>A	ENSP00000337991:p.Arg677*		18588013	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	39	7.356335	0.98231	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.69	1.28	0.21552	.	0.233173	0.31636	N	0.007301	.	.	.	.	.	.	0.45962	D	0.998788	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.7607	14.1144	0.65144	0.0:0.0:0.3067:0.6933	.	.	.	.	X	677	.	ENSP00000337991:R677X	R	-	1	2	SPTY2D1	18588013	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.293000	0.43558	0.279000	0.22186	0.655000	0.94253	CGA		0.418	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
SPTY2D1	144108	broad.mit.edu	37	11	18633993	18633993	+	Missense_Mutation	SNP	C	C	T	rs368321001		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18633993C>T	ENST00000336349.5	-	4	1989	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	585								p.R585Q(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCATATTCTCGCTGCCTTTT	0.368																																					p.R585Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1754A	11						.	C	GLN/ARG	0,4398		0,0,2199	116.0	109.0	111.0		1754	4.1	0.9	11		111	1,8585	1.2+/-3.3	0,1,4292	no	missense	SPTY2D1	NM_194285.2	43	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	585/686	18633993	1,12983	2199	4293	6492	18590569	SO:0001583	missense	144108	exon4			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1754G>A	11.37:g.18633993C>T	ENSP00000337991:p.Arg585Gln		18590569	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692650	0.68271	0.0	1.16E-4	ENSG00000179119	ENST00000336349	T	0.46451	0.87	5.99	4.13	0.48395	.	0.644446	0.15580	N	0.254991	T	0.37972	0.1023	N	0.22421	0.69	0.28869	N	0.895078	D	0.71674	0.998	P	0.57009	0.811	T	0.13308	-1.0514	10	0.22706	T	0.39	-3.7749	5.9502	0.19242	0.1624:0.6789:0.0:0.1587	.	585	Q68D10	SPT2_HUMAN	Q	585	ENSP00000337991:R585Q	ENSP00000337991:R585Q	R	-	2	0	SPTY2D1	18590569	0.989000	0.36119	0.932000	0.37286	0.959000	0.62525	2.162000	0.42367	0.869000	0.35703	0.655000	0.94253	CGA		0.368	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
SPTY2D1	144108	broad.mit.edu	37	11	18636920	18636920	+	Missense_Mutation	SNP	G	G	A	rs138155181	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18636920G>A	ENST00000336349.5	-	3	1136	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	301	Ser-rich.							p.R301C(3)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCCCTCACGAAGTGAGGGT	0.507																																					p.R301C												.	.	3	Substitution - Missense(3)	cervix(1)|large_intestine(1)|lung(1)	c.C901T	11						.	G	CYS/ARG	0,4398		0,0,2199	97.0	95.0	96.0		901	1.5	0.3	11	dbSNP_134	96	5,8581	4.3+/-15.6	0,5,4288	yes	missense	SPTY2D1	NM_194285.2	180	0,5,6487	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging	301/686	18636920	5,12979	2199	4293	6492	18593496	SO:0001583	missense	144108	exon3			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.901C>T	11.37:g.18636920G>A	ENSP00000337991:p.Arg301Cys		18593496	NM_194285	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	9.141	1.013773	0.19277	0.0	5.82E-4	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.23552	1.9	5.74	1.53	0.23141	.	0.456273	0.21728	N	0.070016	T	0.13243	0.0321	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.15037	-1.0451	10	0.51188	T	0.08	-1.2027	1.2617	0.02002	0.1644:0.2187:0.3716:0.2453	.	301	Q68D10	SPT2_HUMAN	C	301	ENSP00000337991:R301C	ENSP00000331447:R301C	R	-	1	0	SPTY2D1	18593496	0.000000	0.05858	0.295000	0.24960	0.762000	0.43233	0.407000	0.21049	0.785000	0.33685	0.563000	0.77884	CGT		0.507	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285	
IGSF22	283284	broad.mit.edu	37	11	18731034	18731034	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18731034G>A	ENST00000513874.1	-	18	3037	c.2898C>T	c.(2896-2898)atC>atT	p.I966I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	865								p.I865I(1)|p.I966I(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCTGCCTCTCGATGAGTCCTC	0.567																																					p.I966I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2898T	11						.						110.0	114.0	113.0					11																	18731034		1959	4149	6108	18687610	SO:0001819	synonymous_variant	283284	exon18			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2898C>T	11.37:g.18731034G>A			18687610	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
IGSF22	283284	broad.mit.edu	37	11	18735888	18735888	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18735888C>T	ENST00000513874.1	-	13	1873	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	578								p.E578E(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCCCTCGTGCTCAGGGCCCA	0.562																																					p.E578E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1734A	11						.						81.0	85.0	84.0					11																	18735888		2050	4186	6236	18692464	SO:0001819	synonymous_variant	283284	exon13			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1734G>A	11.37:g.18735888C>T			18692464	NM_173588	A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	CCDS41625.2																																																																																				0.562	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
MRGPRX1	259249	broad.mit.edu	37	11	18956050	18956050	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:18956050G>T	ENST00000302797.3	-	1	506	c.282C>A	c.(280-282)atC>atA	p.I94I	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	94					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I94I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGATTTTAGAGATGGTATGGG	0.522																																					p.I94I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	11						.						134.0	135.0	134.0					11																	18956050		2194	4287	6481	18912626	SO:0001819	synonymous_variant	259249	exon1				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.282C>A	11.37:g.18956050G>T			18912626	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	CCDS7846.1																																																																																				0.522	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
E2F8	79733	broad.mit.edu	37	11	19259671	19259671	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:19259671G>T	ENST00000527884.1	-	3	256	c.24C>A	c.(22-24)ctC>ctA	p.L8L	E2F8_ENST00000250024.4_Silent_p.L8L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	8					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L8L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTCACAAAAGAGATTTTCCT	0.368																																					p.L8L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24A	11						.						54.0	57.0	56.0					11																	19259671		2199	4293	6492	19216247	SO:0001819	synonymous_variant	79733	exon3				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.24C>A	11.37:g.19259671G>T			19216247	NM_024680	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	CCDS7849.1																																																																																				0.368	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680	
NAV2	89797	broad.mit.edu	37	11	19955232	19955232	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:19955232C>A	ENST00000396087.3	+	8	1610	c.1511C>A	c.(1510-1512)tCt>tAt	p.S504Y	NAV2_ENST00000396085.1_Missense_Mutation_p.S481Y|NAV2_ENST00000360655.4_Missense_Mutation_p.S417Y|NAV2_ENST00000540292.1_Missense_Mutation_p.S435Y|NAV2_ENST00000349880.4_Missense_Mutation_p.S481Y|NAV2_ENST00000527559.2_Missense_Mutation_p.S433Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	504					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.S504Y(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGAAGAGTTCTCTgaaaggc	0.537																																					p.S417Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1250A	11						.						73.0	87.0	82.0					11																	19955232		2199	4293	6492	19911808	SO:0001583	missense	89797	exon7			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1511C>A	11.37:g.19955232C>A	ENSP00000379396:p.Ser504Tyr		19911808	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287550	0.59976	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.34472	1.36;1.46;1.47;1.46;1.36;1.36	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000012	T	0.52191	0.1719	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.986;0.996	T	0.45512	-0.9256	9	.	.	.	.	12.551	0.56225	0.0:0.9237:0.0:0.0763	.	481;417	Q8IVL1-3;Q8IVL1-4	.;.	Y	417;481;481;504;433;435	ENSP00000353871:S417Y;ENSP00000379394:S481Y;ENSP00000309577:S481Y;ENSP00000379396:S504Y;ENSP00000435395:S433Y;ENSP00000443489:S435Y	.	S	+	2	0	NAV2	19911808	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	7.481000	0.81124	2.548000	0.85928	0.455000	0.32223	TCT		0.537	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NAV2	89797	broad.mit.edu	37	11	20070336	20070336	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20070336C>T	ENST00000396087.3	+	16	4133	c.4034C>T	c.(4033-4035)tCg>tTg	p.S1345L	NAV2_ENST00000396085.1_Missense_Mutation_p.S1322L|NAV2_ENST00000311043.8_Missense_Mutation_p.S408L|NAV2_ENST00000360655.4_Missense_Mutation_p.S1258L|NAV2_ENST00000540292.1_Missense_Mutation_p.S1276L|NAV2_ENST00000533917.1_Missense_Mutation_p.S408L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000349880.4_Missense_Mutation_p.S1322L|NAV2_ENST00000527559.2_Missense_Mutation_p.S1274L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1345					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.S1345L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGAAAAATTCGGTGGTCATC	0.532																																					p.S1258L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3773T	11						.						119.0	102.0	108.0					11																	20070336		2203	4300	6503	20026912	SO:0001583	missense	89797	exon15			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4034C>T	11.37:g.20070336C>T	ENSP00000379396:p.Ser1345Leu		20026912	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397524	0.62177	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.31769	1.49;1.59;1.6;1.58;1.48;1.48;3.12;1.76;3.12	5.87	4.02	0.46733	.	0.340395	0.25692	N	0.028928	T	0.31482	0.0798	L	0.46157	1.445	0.58432	D	0.999999	P;P;D;P;P;P	0.62365	0.791;0.787;0.991;0.854;0.786;0.579	B;B;P;B;B;B	0.46237	0.273;0.185;0.508;0.195;0.314;0.138	T	0.03051	-1.1078	9	.	.	.	.	12.743	0.57264	0.0:0.8674:0.0:0.1326	.	1322;1345;408;408;1322;1258	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	L	1258;1322;1322;1345;1274;1276;408;408;408;408	ENSP00000353871:S1258L;ENSP00000379394:S1322L;ENSP00000309577:S1322L;ENSP00000379396:S1345L;ENSP00000435395:S1274L;ENSP00000443489:S1276L;ENSP00000437316:S408L;ENSP00000437136:S408L;ENSP00000312169:S408L	.	S	+	2	0	NAV2	20026912	1.000000	0.71417	0.008000	0.14137	0.982000	0.71751	4.732000	0.62029	0.944000	0.37579	0.655000	0.94253	TCG		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
DBX1	120237	broad.mit.edu	37	11	20180780	20180780	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20180780G>A	ENST00000524983.2	-	2	714	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DBX1_ENST00000227256.3_Silent_p.F142F			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	142					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F142F(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGACCCTTCGAAGTAGGGAA	0.602																																					p.F142F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C426T	11						.						135.0	129.0	131.0					11																	20180780		2203	4300	6503	20137356	SO:0001819	synonymous_variant	120237	exon2					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.426C>T	11.37:g.20180780G>A			20137356	NM_001029865		Silent	SNP	ENST00000524983.2	37																																																																																					0.602	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865	
HTATIP2	10553	broad.mit.edu	37	11	20388726	20388726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20388726G>T	ENST00000451739.2	+	2	643	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	HTATIP2_ENST00000421577.2_Nonsense_Mutation_p.E68*|HTATIP2_ENST00000532505.1_Nonsense_Mutation_p.E68*|HTATIP2_ENST00000532081.1_Nonsense_Mutation_p.E68*|HTATIP2_ENST00000531058.1_Nonsense_Mutation_p.E68*|HTATIP2_ENST00000419348.2_Nonsense_Mutation_p.E102*|HTATIP2_ENST00000530266.1_Nonsense_Mutation_p.E68*|HTATIP2_ENST00000443524.2_Nonsense_Mutation_p.E68*	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa									p.E68*(1)		large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTAGAATCAAGAAGTGGTGGA	0.428																																					p.E102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G304T	11						.						157.0	153.0	155.0					11																	20388726		2203	4300	6503	20345302	SO:0001587	stop_gained	10553	exon3			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.202G>T	11.37:g.20388726G>T	ENSP00000394259:p.Glu68*		20345302	NM_001098520		Nonsense_Mutation	SNP	ENST00000451739.2	37	CCDS7852.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803738	0.70682	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	.	.	.	5.71	4.8	0.61643	.	0.135685	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.8883	12.5013	0.55957	0.081:0.0:0.919:0.0	.	.	.	.	X	68;68;68;102;68;68;68;68	.	ENSP00000392985:E102X	E	+	1	0	HTATIP2	20345302	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.799000	0.55529	1.424000	0.47217	0.555000	0.69702	GAA		0.428	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521	
PRMT3	10196	broad.mit.edu	37	11	20448392	20448392	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20448392T>C	ENST00000331079.6	+	10	1191	c.974T>C	c.(973-975)gTt>gCt	p.V325A	PRMT3_ENST00000437750.2_Missense_Mutation_p.V263A	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	325	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.V325A(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AAAGTAGATGTTATCATATCT	0.244																																					p.V325A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T974C	11						.						54.0	59.0	58.0					11																	20448392		2186	4284	6470	20404968	SO:0001583	missense	10196	exon10			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.974T>C	11.37:g.20448392T>C	ENSP00000331879:p.Val325Ala		20404968	NM_005788	B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044560	0.55110	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.80824	-1.42;-1.42	5.46	5.46	0.80206	.	0.117031	0.64402	D	0.000018	D	0.82360	0.5020	L	0.35593	1.075	0.51767	D	0.999939	B;D	0.54964	0.403;0.969	P;P	0.62435	0.503;0.902	T	0.82092	-0.0628	10	0.40728	T	0.16	-24.2648	13.0519	0.58960	0.0:0.0:0.0:1.0	.	263;325	O60678-2;O60678	.;ANM3_HUMAN	A	325;325;263	ENSP00000331879:V325A;ENSP00000397766:V263A	ENSP00000331879:V325A	V	+	2	0	PRMT3	20404968	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.235000	0.72332	2.074000	0.62210	0.528000	0.53228	GTT		0.244	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788	
SLC6A5	9152	broad.mit.edu	37	11	20625954	20625954	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20625954C>A	ENST00000525748.1	+	3	936	c.663C>A	c.(661-663)gcC>gcA	p.A221A		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	221					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A221A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCTACCTGGCCTTCCAGAACG	0.647																																					p.A221A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663A	11						.						114.0	111.0	112.0					11																	20625954		2203	4300	6503	20582530	SO:0001819	synonymous_variant	9152	exon3			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.663C>A	11.37:g.20625954C>A			20582530	NM_004211	O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																				0.647	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
SLC6A5	9152	broad.mit.edu	37	11	20668408	20668408	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20668408G>T	ENST00000525748.1	+	14	2271	c.1998G>T	c.(1996-1998)gaG>gaT	p.E666D	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	666					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.E666D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGATATAGAGATGATGATTG	0.453																																					p.E666D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1998T	11						.						129.0	115.0	120.0					11																	20668408		2203	4300	6503	20624984	SO:0001583	missense	9152	exon14			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1998G>T	11.37:g.20668408G>T	ENSP00000434364:p.Glu666Asp		20624984	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874427	0.72180	.	.	ENSG00000165970	ENST00000525748	T	0.75154	-0.91	5.86	1.42	0.22433	.	0.142736	0.64402	D	0.000007	T	0.79305	0.4423	M	0.68728	2.09	0.50313	D	0.999864	P	0.50156	0.932	P	0.57009	0.811	T	0.78814	-0.2056	10	0.72032	D	0.01	.	9.9906	0.41868	0.429:0.0:0.571:0.0	.	666	Q9Y345	SC6A5_HUMAN	D	666	ENSP00000434364:E666D	ENSP00000434364:E666D	E	+	3	2	SLC6A5	20624984	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.162000	0.42367	0.400000	0.25396	-0.768000	0.03414	GAG		0.453	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
NELL1	4745	broad.mit.edu	37	11	20805360	20805360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:20805360C>T	ENST00000357134.5	+	3	471	c.319C>T	c.(319-321)Cga>Tga	p.R107*	NELL1_ENST00000325319.5_Nonsense_Mutation_p.R107*|NELL1_ENST00000298925.5_Nonsense_Mutation_p.R135*|NELL1_ENST00000532434.1_Nonsense_Mutation_p.R107*	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	107	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R107*(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACTGTCCATTCGAGAACTGGA	0.418																																					p.R107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	11						.						109.0	98.0	102.0					11																	20805360		2203	4300	6503	20761936	SO:0001587	stop_gained	4745	exon3			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.319C>T	11.37:g.20805360C>T	ENSP00000349654:p.Arg107*		20761936	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Nonsense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	38	7.162540	0.98107	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	3.2	0.36748	.	0.218765	0.39475	N	0.001349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-0.518	12.9657	0.58483	0.1213:0.6457:0.233:0.0	.	.	.	.	X	135;107;107;107	.	ENSP00000298925:R135X	R	+	1	2	NELL1	20761936	1.000000	0.71417	0.948000	0.38648	0.512000	0.34134	3.144000	0.50616	0.432000	0.26286	0.655000	0.94253	CGA		0.418	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
NELL1	4745	broad.mit.edu	37	11	21556024	21556024	+	Missense_Mutation	SNP	G	G	A	rs201961389		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:21556024G>A	ENST00000357134.5	+	16	1902	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	NELL1_ENST00000325319.5_Missense_Mutation_p.D527N|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000298925.5_Missense_Mutation_p.D612N|NELL1_ENST00000532434.1_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	584	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.D584N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTTCCATGACGATGGGACCTA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16743	0.001		0.0	False		,,,				2504	0.0				p.D584N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1750A	11						.	G	ASN/ASP,	0,4406		0,0,2203	182.0	148.0	159.0		1750,	4.7	1.0	11		159	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron	NELL1	NM_006157.3,NM_201551.1	23,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,	584/811,	21556024	2,13004	2203	4300	6503	21512600	SO:0001583	missense	4745	exon16			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1750G>A	11.37:g.21556024G>A	ENSP00000349654:p.Asp584Asn		21512600	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.09	1.254131	0.22965	0.0	2.33E-4	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319	D;D;D	0.87887	-2.31;-2.31;-2.31	5.74	4.73	0.59995	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.073055	0.51477	D	0.000082	T	0.70988	0.3287	N	0.25286	0.73	0.39307	D	0.965017	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.62358	-0.6871	10	0.05620	T	0.96	-18.7381	3.7779	0.08668	0.3339:0.0:0.6661:0.0	.	527;612;584	F5H6I3;B3KXR2;Q92832	.;.;NELL1_HUMAN	N	612;584;527	ENSP00000298925:D612N;ENSP00000349654:D584N;ENSP00000317837:D527N	ENSP00000298925:D612N	D	+	1	0	NELL1	21512600	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.966000	0.76073	2.714000	0.92807	0.585000	0.79938	GAT		0.532	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
ANO5	203859	broad.mit.edu	37	11	22294425	22294425	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:22294425G>A	ENST00000324559.8	+	19	2442	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	709					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.A709T(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						TCGAGTGGATGCCTGGAAACT	0.393																																					p.A708T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2122A	11						.						151.0	139.0	143.0					11																	22294425		2203	4300	6503	22251001	SO:0001583	missense	203859	exon19			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2125G>A	11.37:g.22294425G>A	ENSP00000315371:p.Ala709Thr		22251001	NM_001142649		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.367341	0.82463	.	.	ENSG00000171714	ENST00000324559	T	0.69561	-0.41	5.57	3.4	0.38934	.	0.146155	0.64402	D	0.000007	D	0.83459	0.5259	M	0.93808	3.46	0.42502	D	0.992934	B	0.34147	0.438	P	0.52481	0.7	D	0.86645	0.1894	10	0.87932	D	0	.	12.2277	0.54470	0.0:0.0:0.4365:0.5635	.	709	Q75V66	ANO5_HUMAN	T	709	ENSP00000315371:A709T	ENSP00000315371:A709T	A	+	1	0	ANO5	22251001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.832000	0.62759	1.465000	0.48006	-0.187000	0.12897	GCC		0.393	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
SLC17A6	57084	broad.mit.edu	37	11	22384327	22384327	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:22384327T>G	ENST00000263160.3	+	6	1141	c.704T>G	c.(703-705)aTt>aGt	p.I235S	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	235					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.I235S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTAGCTGGCATTCTTGTGCAG	0.383																																					p.I235S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T704G	11						.						251.0	212.0	225.0					11																	22384327		2203	4300	6503	22340903	SO:0001583	missense	57084	exon6			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.704T>G	11.37:g.22384327T>G	ENSP00000263160:p.Ile235Ser		22340903	NM_020346	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.970454	0.92919	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59638	0.25	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	L	0.52823	1.66	0.80722	D	1	P	0.37015	0.578	B	0.43018	0.405	T	0.63444	-0.6636	10	0.54805	T	0.06	.	15.9669	0.79979	0.0:0.0:0.0:1.0	.	235	Q9P2U8	VGLU2_HUMAN	S	235;123	ENSP00000263160:I235S	ENSP00000263160:I235S	I	+	2	0	SLC17A6	22340903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.236000	0.73375	0.533000	0.62120	ATT		0.383	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
SLC17A6	57084	broad.mit.edu	37	11	22391672	22391672	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:22391672T>C	ENST00000263160.3	+	8	1416	c.979T>C	c.(979-981)Tat>Cat	p.Y327H		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	327					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Y327H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTGGACTTTTTATTTATTGCT	0.328																																					p.Y327H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T979C	11						.						71.0	72.0	72.0					11																	22391672		2202	4298	6500	22348248	SO:0001583	missense	57084	exon8			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.979T>C	11.37:g.22391672T>C	ENSP00000263160:p.Tyr327His		22348248	NM_020346	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619034	0.87460	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61859	0.07	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.82358	-0.0497	10	0.87932	D	0	.	15.7332	0.77822	0.0:0.0:0.0:1.0	.	327	Q9P2U8	VGLU2_HUMAN	H	327;215	ENSP00000263160:Y327H	ENSP00000263160:Y327H	Y	+	1	0	SLC17A6	22348248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.182000	0.69389	0.482000	0.46254	TAT		0.328	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
FANCF	2188	broad.mit.edu	37	11	22647289	22647289	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:22647289A>G	ENST00000327470.3	-	1	98	c.68T>C	c.(67-69)gTc>gCc	p.V23A	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	23					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.V23A(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CCAGGTGCTGACGTAGGTAGT	0.647			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.V23A		yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T68C	11						.						42.0	45.0	44.0					11																	22647289		2203	4300	6503	22603865	SO:0001583	missense	2188	exon1	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.68T>C	11.37:g.22647289A>G	ENSP00000330875:p.Val23Ala		22603865	NM_022725	Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961848	0.53400	.	.	ENSG00000183161	ENST00000327470	T	0.39056	1.1	5.39	4.23	0.50019	.	0.071524	0.56097	D	0.000037	T	0.53449	0.1797	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.60345	0.873	T	0.56854	-0.7910	10	0.87932	D	0	-15.5941	10.3287	0.43809	0.9239:0.0:0.0761:0.0	.	23	Q9NPI8	FANCF_HUMAN	A	23	ENSP00000330875:V23A	ENSP00000330875:V23A	V	-	2	0	FANCF	22603865	0.754000	0.28360	0.342000	0.25602	0.042000	0.13812	2.557000	0.45871	2.266000	0.75297	0.533000	0.62120	GTC		0.647	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725	
SVIP	258010	broad.mit.edu	37	11	22848810	22848810	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:22848810C>A	ENST00000354193.4	-	3	278	c.162G>T	c.(160-162)aaG>aaT	p.K54N	RP11-17A1.3_ENST00000499625.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA|RP11-17A1.3_ENST00000528701.1_RNA|SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	54					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)	p.K54N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						CTATTTTTTCCTTTTTCTTTC	0.343																																					p.K54N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	11						.						108.0	110.0	110.0					11																	22848810		1781	4056	5837	22805386	SO:0001583	missense	258010	exon3			AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.162G>T	11.37:g.22848810C>A	ENSP00000346130:p.Lys54Asn		22805386	NM_148893		Missense_Mutation	SNP	ENST00000354193.4	37	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254286	0.22965	.	.	ENSG00000198168	ENST00000354193	.	.	.	4.73	1.78	0.24846	.	0.249635	0.28156	N	0.016393	T	0.30355	0.0762	.	.	.	0.28977	N	0.8889	B	0.29301	0.241	B	0.32022	0.139	T	0.17592	-1.0364	8	0.42905	T	0.14	-9.7148	7.3283	0.26567	0.0:0.7122:0.0:0.2878	.	54	Q8NHG7	SVIP_HUMAN	N	54	.	ENSP00000346130:K54N	K	-	3	2	SVIP	22805386	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.584000	0.23864	0.153000	0.19213	-0.142000	0.14014	AAG		0.343	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893	
LUZP2	338645	broad.mit.edu	37	11	24750803	24750803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:24750803G>T	ENST00000336930.6	+	2	217	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	51						extracellular region (GO:0005576)		p.E51*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GACATCAAGAGAACTTGATGG	0.408																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	11						.						72.0	74.0	74.0					11																	24750803		2203	4299	6502	24707379	SO:0001587	stop_gained	338645	exon2			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.151G>T	11.37:g.24750803G>T	ENSP00000336817:p.Glu51*		24707379	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Nonsense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	37	6.057223	0.97241	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.839	17.923	0.88973	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000336817:E51X	E	+	1	0	LUZP2	24707379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.890000	0.92477	2.839000	0.97877	0.650000	0.86243	GAA		0.408	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
MUC15	143662	broad.mit.edu	37	11	26587324	26587324	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:26587324C>A	ENST00000455601.2	-	2	200	c.82G>T	c.(82-84)Gac>Tac	p.D28Y	ANO3_ENST00000537978.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.D55Y|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.D55Y|MUC15_ENST00000529533.1_Missense_Mutation_p.D55Y|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.D55Y	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	28					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D28Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTGTTTATGTCTTGATTTTCT	0.328																																					p.D55Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163T	11						.						81.0	77.0	78.0					11																	26587324		2203	4299	6502	26543900	SO:0001583	missense	143662	exon3			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.82G>T	11.37:g.26587324C>A	ENSP00000397339:p.Asp28Tyr		26543900	NM_001135092	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377941	0.24944	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.25085	1.85;1.83;1.82;1.83;1.82	4.61	-2.25	0.06888	.	1.637990	0.03274	N	0.185197	T	0.15609	0.0376	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17268	0.021;0.007;0.007	B;B;B	0.10450	0.005;0.002;0.002	T	0.24870	-1.0148	10	0.66056	D	0.02	-12.8881	1.2508	0.01982	0.1438:0.3667:0.1405:0.3491	.	55;28;55	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	Y	28;55;55;55;55	ENSP00000397339:D28Y;ENSP00000416753:D55Y;ENSP00000281268:D55Y;ENSP00000431983:D55Y;ENSP00000431945:D55Y	ENSP00000281268:D55Y	D	-	1	0	MUC15	26543900	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.712000	0.05013	-0.553000	0.06158	0.555000	0.69702	GAC		0.328	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650	
ANO3	63982	broad.mit.edu	37	11	26619919	26619919	+	Silent	SNP	C	C	A	rs375881108		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:26619919C>A	ENST00000256737.3	+	15	2307	c.1455C>A	c.(1453-1455)gtC>gtA	p.V485V	ANO3_ENST00000537978.1_Silent_p.V469V|ANO3_ENST00000531568.1_Silent_p.V339V|ANO3_ENST00000525139.1_Silent_p.V469V	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	485					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.V485V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAGCCACAGTCTTCCTGGAGT	0.318																																					p.V485V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1455A	11						.						84.0	86.0	85.0					11																	26619919		2203	4299	6502	26576495	SO:0001819	synonymous_variant	63982	exon15			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1455C>A	11.37:g.26619919C>A			26576495	NM_031418	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
ANO3	63982	broad.mit.edu	37	11	26664809	26664809	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:26664809G>A	ENST00000256737.3	+	23	3208	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	ANO3_ENST00000537978.1_Missense_Mutation_p.E770K|ANO3_ENST00000531568.1_Missense_Mutation_p.E640K|ANO3_ENST00000525139.1_Missense_Mutation_p.E770K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	786					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.E786K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATATCATTGAAATCAGGCT	0.408																																					p.E786K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2356A	11						.						109.0	101.0	104.0					11																	26664809		2203	4299	6502	26621385	SO:0001583	missense	63982	exon23			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2356G>A	11.37:g.26664809G>A	ENSP00000256737:p.Glu786Lys		26621385	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	36	5.721785	0.96839	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88332	0.6408	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.90065	0.4159	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	688;786	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	K	770;770;786;688;640	ENSP00000440737:E770K;ENSP00000432576:E770K;ENSP00000256737:E786K;ENSP00000432394:E640K	ENSP00000256737:E786K	E	+	1	0	ANO3	26621385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.732000	0.93576	0.655000	0.94253	GAA		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
SLC5A12	159963	broad.mit.edu	37	11	26694954	26694954	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:26694954C>T	ENST00000396005.3	-	14	2011	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	568					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.E568K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CTCACCTGCTCTGTCCCACTG	0.418																																					p.E568K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	11						.						153.0	156.0	155.0					11																	26694954		2067	4228	6295	26651530	SO:0001583	missense	159963	exon14			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1702G>A	11.37:g.26694954C>T	ENSP00000379326:p.Glu568Lys		26651530	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478143	0.26511	.	.	ENSG00000148942	ENST00000396005	D	0.85013	-1.93	5.62	2.09	0.27110	.	1.202440	0.06292	U	0.699335	T	0.69142	0.3078	N	0.11313	0.125	0.30755	N	0.744687	B	0.20887	0.049	B	0.19666	0.026	T	0.60286	-0.7293	10	0.08179	T	0.78	.	7.1549	0.25632	0.0:0.3734:0.5142:0.1124	.	568	Q1EHB4	SC5AC_HUMAN	K	568	ENSP00000379326:E568K	ENSP00000379326:E568K	E	-	1	0	SLC5A12	26651530	0.949000	0.32298	0.664000	0.29753	0.650000	0.38633	0.735000	0.26115	0.786000	0.33708	0.585000	0.79938	GAG		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
SLC5A12	159963	broad.mit.edu	37	11	26743181	26743181	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:26743181G>T	ENST00000396005.3	-	1	390	c.81C>A	c.(79-81)ttC>ttA	p.F27L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.F27L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	27					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.F27L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAATGGCAAAGAACACCCCAA	0.468																																					p.F27L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C81A	11						.						80.0	82.0	82.0					11																	26743181		2203	4299	6502	26699757	SO:0001583	missense	159963	exon1			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.81C>A	11.37:g.26743181G>T	ENSP00000379326:p.Phe27Leu		26699757	NM_178498	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292137	0.80914	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.85258	-1.96;-1.59	5.59	1.51	0.23008	.	0.059311	0.64402	D	0.000003	D	0.88202	0.6373	M	0.82056	2.57	0.42217	D	0.991836	P;D	0.59357	0.938;0.985	P;P	0.54815	0.755;0.761	D	0.86775	0.1975	10	0.87932	D	0	.	8.2565	0.31760	0.4714:0.0:0.5286:0.0	.	27;27	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	27	ENSP00000379326:F27L;ENSP00000280467:F27L	ENSP00000280467:F27L	F	-	3	2	SLC5A12	26699757	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.589000	0.36644	0.276000	0.22118	0.585000	0.79938	TTC		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	
BBOX1	8424	broad.mit.edu	37	11	27114906	27114906	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:27114906T>G	ENST00000529202.1	+	4	865	c.526T>G	c.(526-528)Ttt>Gtt	p.F176V	BBOX1_ENST00000263182.3_Missense_Mutation_p.F176V|BBOX1_ENST00000528583.1_Missense_Mutation_p.F176V|BBOX1_ENST00000525090.1_Missense_Mutation_p.F176V|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000525302.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	176					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.F176V(2)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTATCTCACATTTTATGGGTG	0.428																																					p.F176V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T526G	11						.						80.0	84.0	82.0					11																	27114906		2202	4299	6501	27071482	SO:0001583	missense	8424	exon5			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.526T>G	11.37:g.27114906T>G	ENSP00000435781:p.Phe176Val		27071482	NM_003986	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880959	0.72294	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.68952	2.095	0.53688	D	0.999979	P	0.42161	0.772	B	0.41088	0.347	T	0.78795	-0.2064	10	0.19147	T	0.46	.	13.6181	0.62121	0.0:0.0:0.0:1.0	.	176	O75936	BODG_HUMAN	V	176	ENSP00000435781:F176V;ENSP00000263182:F176V;ENSP00000434918:F176V;ENSP00000433772:F176V	ENSP00000263182:F176V	F	+	1	0	BBOX1	27071482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.463000	0.66712	2.087000	0.62958	0.528000	0.53228	TTT		0.428	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986	
CCDC34	91057	broad.mit.edu	37	11	27379058	27379058	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:27379058T>G	ENST00000328697.6	-	2	1063	c.390A>C	c.(388-390)gaA>gaC	p.E130D	CCDC34_ENST00000317945.6_Missense_Mutation_p.E130D	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	130								p.E130D(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GTTTCTGTTCTTCTTGGTTAT	0.433																																					p.E130D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A390C	11						.						142.0	130.0	134.0					11																	27379058		2202	4299	6501	27335634	SO:0001583	missense	91057	exon2			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.390A>C	11.37:g.27379058T>G	ENSP00000330240:p.Glu130Asp		27335634	NM_030771	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026757	0.35797	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.24350	1.86;1.86	5.53	1.86	0.25419	.	0.310256	0.25747	N	0.028573	T	0.20901	0.0503	L	0.53249	1.67	0.18873	N	0.999985	B;B	0.19331	0.035;0.024	B;B	0.24848	0.056;0.018	T	0.13072	-1.0523	10	0.37606	T	0.19	-4.5093	5.0648	0.14576	0.0:0.1692:0.1568:0.674	.	130;130	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	D	130	ENSP00000330240:E130D;ENSP00000321563:E130D	ENSP00000321563:E130D	E	-	3	2	CCDC34	27335634	0.476000	0.25901	0.982000	0.44146	0.784000	0.44337	0.328000	0.19681	1.035000	0.39972	0.533000	0.62120	GAA		0.433	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
LGR4	55366	broad.mit.edu	37	11	27390507	27390507	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:27390507C>T	ENST00000379214.4	-	18	2206	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	LGR4_ENST00000389858.4_Missense_Mutation_p.G564E	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	588					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.G588E(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTATAGATTCCCATGAATAA	0.413																																					p.G588E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1763A	11						.						84.0	86.0	86.0					11																	27390507		2202	4299	6501	27347083	SO:0001583	missense	55366	exon18			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1763G>A	11.37:g.27390507C>T	ENSP00000368516:p.Gly588Glu		27347083	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069726	0.76301	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.93712	-3.27;-3.27	5.95	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.048732	0.85682	N	0.000000	D	0.96315	0.8798	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96766	0.9565	10	0.87932	D	0	.	15.0393	0.71777	0.0:0.9321:0.0:0.0679	.	564;588	G5E9B3;Q9BXB1	.;LGR4_HUMAN	E	588;564	ENSP00000368516:G588E;ENSP00000374508:G564E	ENSP00000368516:G588E	G	-	2	0	LGR4	27347083	1.000000	0.71417	0.980000	0.43619	0.973000	0.67179	6.081000	0.71309	1.518000	0.48934	0.650000	0.86243	GGA		0.413	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
LGR4	55366	broad.mit.edu	37	11	27395535	27395535	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:27395535G>A	ENST00000379214.4	-	14	1683	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	LGR4_ENST00000389858.4_Missense_Mutation_p.P390S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	414					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.P414S(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTAGTTATTGGCCCAAGTGTG	0.328																																					p.P414S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1240T	11						.						232.0	234.0	234.0					11																	27395535		2202	4299	6501	27352111	SO:0001583	missense	55366	exon14			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1240C>T	11.37:g.27395535G>A	ENSP00000368516:p.Pro414Ser		27352111	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	0.796	-0.756995	0.03019	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.20200	4.55;2.09	5.15	1.6	0.23607	.	0.291939	0.32218	N	0.006401	T	0.01800	0.0057	N	0.00011	-3	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34650	-0.9820	10	0.02654	T	1	.	2.8934	0.05684	0.2543:0.4973:0.1126:0.1357	.	390;414	G5E9B3;Q9BXB1	.;LGR4_HUMAN	S	414;390	ENSP00000368516:P414S;ENSP00000374508:P390S	ENSP00000368516:P414S	P	-	1	0	LGR4	27352111	0.950000	0.32346	0.999000	0.59377	0.996000	0.88848	1.613000	0.36900	0.038000	0.15604	0.650000	0.86243	CCA		0.328	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
KIF18A	81930	broad.mit.edu	37	11	28104408	28104408	+	Silent	SNP	G	G	A	rs370457263		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:28104408G>A	ENST00000263181.6	-	9	1547	c.1257C>T	c.(1255-1257)atC>atT	p.I419I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.I419I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTACCTTTCGATTTCTTTTT	0.249																																					p.I419I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1257T	11						.	G		0,4394		0,0,2197	78.0	79.0	79.0		1257	-6.8	0.8	11		79	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	KIF18A	NM_031217.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		419/899	28104408	1,12979	2197	4293	6490	28060984	SO:0001819	synonymous_variant	81930	exon9			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1257C>T	11.37:g.28104408G>A			28060984	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	CCDS7867.1																																																																																				0.249	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KIF18A	81930	broad.mit.edu	37	11	28119446	28119446	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R17C(3)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGACGTACACGAACTACTACT	0.363																																					p.R17C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C49T	11						.						166.0	158.0	161.0					11																	28119446		2202	4299	6501	28076022	SO:0001583	missense	81930	exon2			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys		28076022	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KCNA4	3739	broad.mit.edu	37	11	30032434	30032434	+	Missense_Mutation	SNP	G	G	A	rs371670338		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30032434G>A	ENST00000328224.6	-	2	3025	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	598					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R598W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GTAGAGCTCCGAAATTTCTTG	0.458																																					p.R598W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1792T	11						.	G	TRP/ARG	1,3765		0,1,1882	84.0	84.0	84.0		1792	3.6	1.0	11		84	0,8236		0,0,4118	no	missense	KCNA4	NM_002233.3	101	0,1,6000	AA,AG,GG		0.0,0.0266,0.0083	probably-damaging	598/654	30032434	1,12001	1883	4118	6001	29989010	SO:0001583	missense	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1792C>T	11.37:g.30032434G>A	ENSP00000328511:p.Arg598Trp		29989010	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747679	0.49257	2.66E-4	0.0	ENSG00000182255	ENST00000328224	D	0.97089	-4.24	5.55	3.56	0.40772	.	0.889912	0.09660	N	0.772636	D	0.97167	0.9074	L	0.57536	1.79	0.47476	D	0.999439	D	0.65815	0.995	P	0.53809	0.735	D	0.94895	0.8051	10	0.87932	D	0	.	13.7446	0.62868	0.0:0.0:0.5674:0.4326	.	598	P22459	KCNA4_HUMAN	W	598	ENSP00000328511:R598W	ENSP00000328511:R598W	R	-	1	2	KCNA4	29989010	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.414000	0.59802	1.325000	0.45301	0.655000	0.94253	CGG		0.458	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
KCNA4	3739	broad.mit.edu	37	11	30033500	30033500	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30033500C>T	ENST00000328224.6	-	2	1959	c.726G>A	c.(724-726)aaG>aaA	p.K242K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	242					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.K242K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TGACTGGCCTCTTCAGGCGGC	0.493																																					p.K242K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G726A	11						.						96.0	87.0	90.0					11																	30033500		1868	4122	5990	29990076	SO:0001819	synonymous_variant	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.726G>A	11.37:g.30033500C>T			29990076	NM_002233		Silent	SNP	ENST00000328224.6	37	CCDS41629.1																																																																																				0.493	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
DCDC1	341019	broad.mit.edu	37	11	30902729	30902729	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30902729C>T	ENST00000597505.1	-	35	5199	c.5200G>A	c.(5200-5202)Gga>Aga	p.G1734R				P59894	DCDC1_HUMAN	doublecortin domain containing 1	240					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAACCATGTCCCATAGACACA	0.433																																					p.G971R												.	.	0			c.G2911A	11						.						102.0	97.0	99.0					11																	30902729		1930	4145	6075	30859305	SO:0001583	missense	0	exon19			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.5200G>A	11.37:g.30902729C>T	ENSP00000472625:p.Gly1734Arg		30859305	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000597505.1	37																																																																																					0.433	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
DCDC1	341019	broad.mit.edu	37	11	30921164	30921164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30921164C>A	ENST00000339794.5	-	15	2308	c.1909G>T	c.(1909-1911)Gaa>Taa	p.E637*	DCDC1_ENST00000597505.1_Missense_Mutation_p.E1560D|DCDC1_ENST00000406071.2_Missense_Mutation_p.E298D			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.E250D(1)|p.E637*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGTTCTGTTTCTCTAATTTTT	0.308																																					p.E797D												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G2391T	11						.						122.0	106.0	112.0					11																	30921164		2200	4294	6494	30877740	SO:0001587	stop_gained	0	exon16			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000339794.5:c.1909G>T	11.37:g.30921164C>A	ENSP00000341700:p.Glu637*		30877740	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000339794.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.400849|6.400849	0.97537|0.97537	.|.	.|.	ENSG00000170959|ENSG00000170959	ENST00000406071|ENST00000339794	.|.	.|.	.|.	5.64|5.64	3.63|3.63	0.41609|0.41609	.|.	0.501328|0.501328	0.19526|0.19526	N|N	0.112148|0.112148	T|.	0.36413|.	0.0966|.	L|L	0.36672|0.36672	1.1|1.1	0.37002|0.37002	D|D	0.895308|0.895308	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20273|.	-1.0280|.	7|.	0.32370|0.08381	T|T	0.25|0.77	-9.7865|-9.7865	2.9943|2.9943	0.05993|0.05993	0.2148:0.5311:0.0:0.2541|0.2148:0.5311:0.0:0.2541	.|.	.|.	.|.	.|.	D|X	298|637	.|.	ENSP00000385936:E298D|ENSP00000306898:E251X	E|E	-|-	3|1	2|0	DCDC5|DCDC5	30877740|30877740	0.946000|0.946000	0.32159|0.32159	0.956000|0.956000	0.39512|0.39512	0.468000|0.468000	0.32798|0.32798	0.638000|0.638000	0.24674|0.24674	0.596000|0.596000	0.29794|0.29794	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.308	DCDC1-201	KNOWN	basic	protein_coding	protein_coding		NM_181807	
DCDC1	341019	broad.mit.edu	37	11	30937100	30937100	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30937100G>T	ENST00000406071.2	-	0	1247				DCDC1_ENST00000339794.5_Missense_Mutation_p.S283Y|DCDC1_ENST00000597505.1_Missense_Mutation_p.S1204Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)			p.S283Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTACCATCAGATTTCTTCTC	0.458																																					p.S402Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1205A	11						.						151.0	137.0	142.0					11																	30937100		2202	4299	6501	30893676			0	exon8			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-185C>A	11.37:g.30937100G>T			30893676	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000406071.2	37		.	.	.	.	.	.	.	.	.	.	G	4.895	0.166296	0.09339	.	.	ENSG00000170959	ENST00000339794	T	0.39406	1.08	5.75	2.82	0.32997	Ricin B-related lectin (1);Ricin B lectin (2);	0.845233	0.10261	N	0.696033	T	0.21718	0.0523	N	0.19112	0.55	0.09310	N	1	B	0.25772	0.134	B	0.20767	0.031	T	0.29305	-1.0016	10	0.07482	T	0.82	0.068	4.5051	0.11883	0.2529:0.0:0.5948:0.1522	.	283	Q6ZRR9	DCDC5_HUMAN	Y	283	ENSP00000341700:S283Y	ENSP00000341700:S283Y	S	-	2	0	DCDC5	30893676	0.001000	0.12720	0.028000	0.17463	0.028000	0.11728	0.896000	0.28377	0.332000	0.23536	-0.136000	0.14681	TCT		0.458	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
DCDC1	341019	broad.mit.edu	37	11	30953320	30953320	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30953320C>T	ENST00000597505.1	-	20	2894	c.2895G>A	c.(2893-2895)acG>acA	p.T965T	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Silent_p.T44T|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	200					intracellular signal transduction (GO:0035556)			p.T44T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTCTTACTGCGTTTTCCGTC	0.368																																					p.T44T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G132A	11						.						68.0	64.0	65.0					11																	30953320		2202	4299	6501	30909896	SO:0001819	synonymous_variant	0	exon1			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2895G>A	11.37:g.30953320C>T			30909896	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000597505.1	37																																																																																					0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
DCDC1	341019	broad.mit.edu	37	11	30953389	30953389	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:30953389C>A	ENST00000597505.1	-	20	2825	c.2826G>T	c.(2824-2826)caG>caT	p.Q942H	DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.Q21H|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	180					intracellular signal transduction (GO:0035556)			p.Q21H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCTCTCCATTCTGCAAAACTC	0.443																																					p.Q21H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G63T	11						.						89.0	84.0	86.0					11																	30953389		2202	4298	6500	30909965	SO:0001583	missense	0	exon1			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2826G>T	11.37:g.30953389C>A	ENSP00000472625:p.Gln942His		30909965	NM_020869	A6PVL6|B7WNX6|Q6ZU04	IGR	SNP	ENST00000597505.1	37		.	.	.	.	.	.	.	.	.	.	C	10.56	1.384209	0.25031	.	.	ENSG00000170959	ENST00000339794;ENST00000437348	D	0.93366	-3.21	4.62	1.06	0.20224	Doublecortin domain (2);	0.602503	0.14466	N	0.317920	D	0.84835	0.5560	N	0.14661	0.345	0.19300	N	0.99997	B	0.28512	0.214	B	0.28784	0.094	T	0.75895	-0.3156	10	0.66056	D	0.02	2.3719	7.1856	0.25797	0.0:0.4602:0.0:0.5398	.	21	Q6ZRR9	DCDC5_HUMAN	H	21	ENSP00000341700:Q21H	ENSP00000341700:Q21H	Q	-	3	2	DCDC5	30909965	0.006000	0.16342	0.874000	0.34290	0.368000	0.29767	-0.217000	0.09253	0.072000	0.16694	0.455000	0.32223	CAG		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
PAX6	5080	broad.mit.edu	37	11	31815292	31815292	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:31815292C>A	ENST00000379132.3	-	9	1104	c.824G>T	c.(823-825)aGa>aTa	p.R275I	PAX6_ENST00000241001.8_Missense_Mutation_p.R275I|PAX6_ENST00000379107.2_Missense_Mutation_p.R289I|PAX6_ENST00000379123.5_Missense_Mutation_p.R275I|PAX6_ENST00000379111.2_Missense_Mutation_p.R275I|PAX6_ENST00000379115.4_Missense_Mutation_p.R289I|PAX6_ENST00000379129.2_Missense_Mutation_p.R289I|PAX6_ENST00000419022.1_Missense_Mutation_p.R289I			P26367	PAX6_HUMAN	paired box 6	275					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.R289I(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGCCTGTCTTCTCTGATTCCT	0.468									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.R275I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824T	11						.						283.0	287.0	286.0					11																	31815292		2202	4299	6501	31771868	SO:0001583	missense	5080	exon10	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.824G>T	11.37:g.31815292C>A	ENSP00000368427:p.Arg275Ile		31771868	NM_001127612	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504209	0.96371	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373;ENST00000531910	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.09;-3.46;-3.11;-3.46;-3.46;-3.46;-3.46;-2.96;-2.96;-3.46;-3.21;-3.0;-2.95	5.94	5.94	0.96194	.	0.044813	0.85682	D	0.000000	D	0.97942	0.9323	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.98156	1.0444	10	0.87932	D	0	.	20.3674	0.98886	0.0:1.0:0.0:0.0	.	289;275	F1T0F8;P26367	.;PAX6_HUMAN	I	289;275;289;104;289;74;275;289;275;275;139;139;275;230;74;139	ENSP00000404100:R289I;ENSP00000368427:R275I;ENSP00000368424:R289I;ENSP00000451885:R104I;ENSP00000368401:R289I;ENSP00000431961:R74I;ENSP00000241001:R275I;ENSP00000368410:R289I;ENSP00000368406:R275I;ENSP00000368418:R275I;ENSP00000451901:R139I;ENSP00000450775:R139I;ENSP00000368403:R275I;ENSP00000451372:R230I;ENSP00000452202:R74I;ENSP00000452558:R139I	ENSP00000241001:R275I	R	-	2	0	PAX6	31771868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.805000	0.96524	0.643000	0.83706	AGA		0.468	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
PAX6	5080	broad.mit.edu	37	11	31816274	31816274	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:31816274C>A	ENST00000379132.3	-	7	866	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	PAX6_ENST00000241001.8_Missense_Mutation_p.D196Y|PAX6_ENST00000379107.2_Missense_Mutation_p.D210Y|PAX6_ENST00000379123.5_Missense_Mutation_p.D196Y|PAX6_ENST00000379111.2_Missense_Mutation_p.D196Y|PAX6_ENST00000379115.4_Missense_Mutation_p.D210Y|PAX6_ENST00000379129.2_Missense_Mutation_p.D210Y|PAX6_ENST00000419022.1_Missense_Mutation_p.D210Y			P26367	PAX6_HUMAN	paired box 6	196	Gln/Gly-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.D210Y(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCATCTGAATCTTCTCCGTTG	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																												p.D196Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586T	11						.						131.0	117.0	122.0					11																	31816274		2202	4299	6501	31772850	SO:0001583	missense	5080	exon8	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.586G>T	11.37:g.31816274C>A	ENSP00000368427:p.Asp196Tyr		31772850	NM_001127612	Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972312	0.74246	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000531910;ENST00000471303	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.76	5.76	0.90799	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.64170	1.965	0.80722	D	1	D;P	0.65815	0.995;0.939	D;P	0.64042	0.921;0.781	D	0.97294	0.9926	10	0.72032	D	0.01	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	210;196	F1T0F8;P26367	.;PAX6_HUMAN	Y	210;196;210;25;210;196;210;196;196;60;60;196;151;60;60	ENSP00000404100:D210Y;ENSP00000368427:D196Y;ENSP00000368424:D210Y;ENSP00000451885:D25Y;ENSP00000368401:D210Y;ENSP00000241001:D196Y;ENSP00000368410:D210Y;ENSP00000368406:D196Y;ENSP00000368418:D196Y;ENSP00000451901:D60Y;ENSP00000450775:D60Y;ENSP00000368403:D196Y;ENSP00000451372:D151Y;ENSP00000452558:D60Y;ENSP00000435884:D60Y	ENSP00000241001:D196Y	D	-	1	0	PAX6	31772850	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.453000	0.80700	2.716000	0.92895	0.655000	0.94253	GAT		0.463	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604	
RCN1	5954	broad.mit.edu	37	11	32118795	32118795	+	Silent	SNP	C	C	T	rs141697360		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32118795C>T	ENST00000054950.3	+	2	653	c.360C>T	c.(358-360)gtC>gtT	p.V120V	RCN1_ENST00000532942.1_Silent_p.V69V|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	120	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.V120V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TTGATAATGTCGCCAAAGTCT	0.423													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19997	0.0		0.0	False		,,,				2504	0.0				p.V120V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	11						.	C		3,4401	6.2+/-15.9	0,3,2199	69.0	63.0	65.0		360	-1.2	1.0	11	dbSNP_134	65	0,8594		0,0,4297	no	coding-synonymous	RCN1	NM_002901.2		0,3,6496	TT,TC,CC		0.0,0.0681,0.0231		120/332	32118795	3,12995	2202	4297	6499	32075371	SO:0001819	synonymous_variant	5954	exon2			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.360C>T	11.37:g.32118795C>T			32075371	NM_002901	B7Z1M1|D3DR00	Silent	SNP	ENST00000054950.3	37	CCDS7876.1																																																																																				0.423	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901	
WT1	7490	broad.mit.edu	37	11	32421570	32421570	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32421570C>T	ENST00000379079.2	-	6	659	c.386G>A	c.(385-387)aGc>aAc	p.S129N	WT1_ENST00000530998.1_Missense_Mutation_p.S112N|WT1_ENST00000332351.3_Missense_Mutation_p.S341N|WT1_ENST00000448076.3_Missense_Mutation_p.S341N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	273					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.S273N(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)			GTGGTTATCGCTCTCGTACCC	0.537			"""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.S129N		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	WT1,peritoneum,NS,Substitution - Missense,-1	.	1	Substitution - Missense(1)	large_intestine(1)	c.G386A	11						.						267.0	225.0	239.0					11																	32421570		2202	4299	6501	32378146	SO:0001583	missense	7490	exon6	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.386G>A	11.37:g.32421570C>T	ENSP00000368370:p.Ser129Asn		32378146	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349018	0.24426	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.98	3.91	0.45181	Wilm&apos (1);s tumour protein, N-terminal (1);	0.126809	0.51477	U	0.000100	T	0.66237	0.2769	N	0.04355	-0.22	0.35555	D	0.804189	B;B;B;B;B	0.13145	0.007;0.003;0.004;0.0;0.001	B;B;B;B;B	0.19666	0.02;0.026;0.026;0.009;0.011	T	0.64685	-0.6349	10	0.32370	T	0.25	.	6.6096	0.22743	0.0:0.6541:0.0:0.3459	.	329;273;346;112;129	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	N	129;341;112;324;341;92	ENSP00000368370:S129N;ENSP00000331327:S341N;ENSP00000435307:S112N;ENSP00000415516:S324N;ENSP00000413452:S341N;ENSP00000435351:S92N	ENSP00000331327:S341N	S	-	2	0	WT1	32378146	0.944000	0.32072	0.890000	0.34922	0.672000	0.39443	1.864000	0.39469	1.529000	0.49120	0.650000	0.86243	AGC		0.537	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
CCDC73	493860	broad.mit.edu	37	11	32632747	32632747	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32632747C>A	ENST00000335185.5	-	17	3004	c.2961G>T	c.(2959-2961)aaG>aaT	p.K987N		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	987								p.K987N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TGGGTTCTCCCTTGGGATCTG	0.388																																					p.K987N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2961T	11						.						171.0	161.0	164.0					11																	32632747		1860	4108	5968	32589323	SO:0001583	missense	493860	exon17			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2961G>T	11.37:g.32632747C>A	ENSP00000335325:p.Lys987Asn		32589323	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901564	0.33535	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.56	4.65	0.58169	.	0.301266	0.28436	N	0.015358	T	0.54127	0.1839	L	0.55481	1.735	0.80722	D	1	B	0.34200	0.441	B	0.35312	0.2	T	0.58634	-0.7602	9	0.87932	D	0	.	12.5305	0.56111	0.0:0.9233:0.0:0.0767	.	987	Q6ZRK6	CCD73_HUMAN	N	987	.	ENSP00000335325:K987N	K	-	3	2	CCDC73	32589323	1.000000	0.71417	0.994000	0.49952	0.621000	0.37620	2.378000	0.44309	1.349000	0.45751	0.655000	0.94253	AAG		0.388	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
CCDC73	493860	broad.mit.edu	37	11	32636084	32636084	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32636084C>A	ENST00000335185.5	-	16	1823	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	594								p.D594Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCAGAAACATCTTTATTATTA	0.333																																					p.D594Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1780T	11						.						82.0	75.0	77.0					11																	32636084		1831	4082	5913	32592660	SO:0001583	missense	493860	exon16			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1780G>T	11.37:g.32636084C>A	ENSP00000335325:p.Asp594Tyr		32592660	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893152	0.17613	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.89	0.771	0.18504	.	0.236936	0.29444	N	0.012129	T	0.31451	0.0797	L	0.59436	1.845	0.09310	N	1	B	0.20261	0.043	B	0.21546	0.035	T	0.31861	-0.9928	9	0.56958	D	0.05	.	0.997	0.01469	0.1564:0.3873:0.1531:0.3033	.	594	Q6ZRK6	CCD73_HUMAN	Y	594	.	ENSP00000335325:D594Y	D	-	1	0	CCDC73	32592660	0.000000	0.05858	0.003000	0.11579	0.152000	0.21847	-0.069000	0.11542	-0.050000	0.13356	-0.274000	0.10170	GAT		0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
CCDC73	493860	broad.mit.edu	37	11	32663596	32663596	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32663596C>A	ENST00000335185.5	-	13	1015	c.972G>T	c.(970-972)gaG>gaT	p.E324D	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	324								p.E324D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTTTTACCTTCTCCCTTTGCA	0.279																																					p.E324D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G972T	11						.						78.0	70.0	72.0					11																	32663596		1788	4054	5842	32620172	SO:0001583	missense	493860	exon13			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.972G>T	11.37:g.32663596C>A	ENSP00000335325:p.Glu324Asp		32620172	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472903	0.63737	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.43	5.43	0.79202	.	0.308452	0.32473	N	0.006047	T	0.70378	0.3217	M	0.61703	1.905	0.80722	D	1	P;D	0.69078	0.873;0.997	P;D	0.66196	0.517;0.942	T	0.71381	-0.4610	9	0.52906	T	0.07	.	12.5824	0.56397	0.0:0.9237:0.0:0.0763	.	314;324	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	D	324	.	ENSP00000335325:E324D	E	-	3	2	CCDC73	32620172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.963000	0.49184	2.538000	0.85594	0.467000	0.42956	GAG		0.279	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
CCDC73	493860	broad.mit.edu	37	11	32697142	32697142	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32697142T>G	ENST00000335185.5	-	9	657	c.614A>C	c.(613-615)aAa>aCa	p.K205T	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	205								p.K205T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGCTTCTTGTTTTTTATTTAA	0.269																																					p.K205T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614C	11						.						32.0	31.0	31.0					11																	32697142		1787	4031	5818	32653718	SO:0001583	missense	493860	exon9			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.614A>C	11.37:g.32697142T>G	ENSP00000335325:p.Lys205Thr		32653718	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	12.85	2.061052	0.36373	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.1	3.9	0.45041	.	.	.	.	.	T	0.46737	0.1408	L	0.54323	1.7	0.80722	D	1	B;B	0.27932	0.041;0.194	B;B	0.26094	0.019;0.066	T	0.45026	-0.9289	8	0.32370	T	0.25	.	5.0666	0.14585	0.0:0.1244:0.178:0.6976	.	205;205	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	T	205	.	ENSP00000335325:K205T	K	-	2	0	CCDC73	32653718	0.958000	0.32768	0.995000	0.50966	0.851000	0.48451	1.558000	0.36309	1.928000	0.55862	0.397000	0.26171	AAA		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
QSER1	79832	broad.mit.edu	37	11	32954325	32954325	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32954325T>G	ENST00000399302.2	+	4	1469	c.1134T>G	c.(1132-1134)ttT>ttG	p.F378L	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	378	Ser-rich.							p.F378L(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTGACTTTTTCTGGGTCAT	0.378																																					p.F378L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1134G	11						.						105.0	97.0	99.0					11																	32954325		1828	4077	5905	32910901	SO:0001583	missense	79832	exon4			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1134T>G	11.37:g.32954325T>G	ENSP00000382241:p.Phe378Leu		32910901	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722575	0.48728	.	.	ENSG00000060749	ENST00000399302	T	0.48522	0.81	4.89	3.76	0.43208	.	0.000000	0.43260	U	0.000586	T	0.28034	0.0691	N	0.19112	0.55	0.80722	D	1	B	0.32071	0.355	B	0.29267	0.1	T	0.04128	-1.0975	10	0.12766	T	0.61	.	10.6649	0.45723	0.0:0.0763:0.0:0.9236	.	378	Q2KHR3	QSER1_HUMAN	L	378	ENSP00000382241:F378L	ENSP00000382241:F378L	F	+	3	2	QSER1	32910901	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.463000	0.45058	0.825000	0.34637	0.482000	0.46254	TTT		0.378	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
QSER1	79832	broad.mit.edu	37	11	32997884	32997884	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:32997884C>A	ENST00000399302.2	+	13	5407	c.5072C>A	c.(5071-5073)tCt>tAt	p.S1691Y	QSER1_ENST00000527788.1_Missense_Mutation_p.S1452Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1691								p.S1691Y(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTAGATTTCTTCGGTGCAG	0.294																																					p.S1691Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5072A	11						.						49.0	48.0	49.0					11																	32997884		1795	4055	5850	32954460	SO:0001583	missense	79832	exon13			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5072C>A	11.37:g.32997884C>A	ENSP00000382241:p.Ser1691Tyr		32954460	NM_001076786	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422482	0.25639	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.25414	2.13;1.8	5.78	4.86	0.63082	.	0.000000	0.41712	U	0.000839	T	0.20981	0.0505	L	0.43152	1.355	0.43647	D	0.996052	B;B	0.13145	0.007;0.004	B;B	0.15484	0.013;0.006	T	0.08827	-1.0703	10	0.02654	T	1	.	16.2413	0.82409	0.134:0.866:0.0:0.0	.	1452;1691	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	Y	1691;1452	ENSP00000382241:S1691Y;ENSP00000432766:S1452Y	ENSP00000382241:S1691Y	S	+	2	0	QSER1	32954460	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.785000	0.55424	1.445000	0.47624	0.563000	0.77884	TCT		0.294	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
CSTF3	1479	broad.mit.edu	37	11	33107279	33107279	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33107279C>T	ENST00000323959.4	-	20	2070	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	644					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R644Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTTGCATCTTCGGAAAATTTC	0.358																																					p.R644Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1931A	11						.						146.0	137.0	140.0					11																	33107279		2202	4298	6500	33063855	SO:0001583	missense	1479	exon20			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1931G>A	11.37:g.33107279C>T	ENSP00000315791:p.Arg644Gln		33063855	NM_001326	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077977	0.76528	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.88	5.88	0.94601	Suppressor of forked (1);	0.055348	0.64402	D	0.000001	T	0.54759	0.1878	L	0.59436	1.845	0.80722	D	1	P	0.44429	0.835	B	0.37550	0.253	T	0.52924	-0.8510	9	0.21014	T	0.42	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	644	Q12996	CSTF3_HUMAN	Q	644;577	.	ENSP00000315791:R644Q	R	-	2	0	CSTF3	33063855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.336000	0.79245	2.779000	0.95612	0.650000	0.86243	CGA		0.358	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326	
HIPK3	10114	broad.mit.edu	37	11	33361005	33361005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33361005G>T	ENST00000303296.4	+	6	1843	c.1538G>T	c.(1537-1539)aGa>aTa	p.R513I	HIPK3_ENST00000456517.1_Missense_Mutation_p.R513I|HIPK3_ENST00000525975.1_Missense_Mutation_p.R513I|HIPK3_ENST00000379016.3_Missense_Mutation_p.R513I	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	513	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R513I(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GCAGATTTAAGAATTACTCCA	0.353																																					p.R513I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538T	11						.						212.0	218.0	216.0					11																	33361005		2202	4298	6500	33317581	SO:0001583	missense	10114	exon6			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.1538G>T	11.37:g.33361005G>T	ENSP00000304226:p.Arg513Ile		33317581	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412374	0.96072	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.080808	0.53938	D	0.000058	D	0.90407	0.6997	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92722	0.6192	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	513;513	Q9H422-2;Q9H422	.;HIPK3_HUMAN	I	513	ENSP00000431710:R513I;ENSP00000304226:R513I;ENSP00000368301:R513I;ENSP00000398241:R513I	ENSP00000304226:R513I	R	+	2	0	HIPK3	33317581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	AGA		0.353	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
HIPK3	10114	broad.mit.edu	37	11	33370113	33370113	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33370113T>C	ENST00000303296.4	+	13	2720	c.2415T>C	c.(2413-2415)atT>atC	p.I805I	HIPK3_ENST00000456517.1_Silent_p.I784I|HIPK3_ENST00000525975.1_Silent_p.I784I|HIPK3_ENST00000379016.3_Silent_p.I784I	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	805	Interaction with AR. {ECO:0000250}.|Interaction with FAS. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I805I(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAGCATTTATTTCTCCAAAGA	0.313																																					p.I784I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2352C	11						.						38.0	41.0	40.0					11																	33370113		2201	4297	6498	33326689	SO:0001819	synonymous_variant	10114	exon12			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2415T>C	11.37:g.33370113T>C			33326689	NM_001048200	O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	CCDS7884.1																																																																																				0.313	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734	
KIAA1549L	25758	broad.mit.edu	37	11	33564420	33564420	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33564420C>A	ENST00000321505.4	+	1	600	c.420C>A	c.(418-420)gcC>gcA	p.A140A	KIAA1549L_ENST00000265654.5_Silent_p.A140A|KIAA1549L_ENST00000389726.3_Silent_p.A140A			Q6ZVL6	K154L_HUMAN	KIAA1549-like	140						integral component of membrane (GO:0016021)		p.A140A(2)									GAAAGCTAGCCTCTGCCACTG	0.517											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A140A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C420A	11						.						53.0	53.0	53.0					11																	33564420		1910	4109	6019	33520996	SO:0001819	synonymous_variant	25758	exon1			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.420C>A	11.37:g.33564420C>A		841	33520996	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																				0.517	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
KIAA1549L	25758	broad.mit.edu	37	11	33564564	33564564	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33564564C>A	ENST00000321505.4	+	1	744	c.564C>A	c.(562-564)atC>atA	p.I188I	KIAA1549L_ENST00000265654.5_Silent_p.I188I|KIAA1549L_ENST00000389726.3_Silent_p.I188I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	188						integral component of membrane (GO:0016021)		p.I188I(2)									AGCAAGCCATCCTTTCTGGGG	0.557											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I188I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C564A	11						.						153.0	151.0	152.0					11																	33564564		2008	4148	6156	33521140	SO:0001819	synonymous_variant	25758	exon1			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.564C>A	11.37:g.33564564C>A		841	33521140	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																				0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
KIAA1549L	25758	broad.mit.edu	37	11	33565195	33565195	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33565195T>G	ENST00000321505.4	+	1	1375	c.1195T>G	c.(1195-1197)Ttc>Gtc	p.F399V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.F399V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.F399V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	399						integral component of membrane (GO:0016021)		p.F399V(2)									CACAGATGTTTTCTGGAGTTC	0.408											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F399V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1195G	11						.						34.0	34.0	34.0					11																	33565195		1861	4106	5967	33521771	SO:0001583	missense	25758	exon1			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1195T>G	11.37:g.33565195T>G	ENSP00000315295:p.Phe399Val	841	33521771	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738588	0.49045	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.65	5.65	0.86999	.	0.432330	0.22293	N	0.061966	T	0.52709	0.1751	M	0.62723	1.935	0.32973	D	0.522586	P;P	0.42296	0.651;0.775	B;B	0.43916	0.162;0.436	T	0.60647	-0.7222	9	0.14252	T	0.57	-3.4441	13.3966	0.60856	0.0:0.0:0.0:1.0	.	399;399	E9PAT2;Q6ZVL6-2	.;.	V	399;399;399;239	.	ENSP00000265654:F399V	F	+	1	0	C11orf41	33521771	0.921000	0.31238	0.959000	0.39883	0.944000	0.59088	1.191000	0.32138	2.149000	0.67028	0.454000	0.30748	TTC		0.408	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
KIAA1549L	25758	broad.mit.edu	37	11	33565376	33565376	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33565376C>A	ENST00000321505.4	+	1	1556	c.1376C>A	c.(1375-1377)tCt>tAt	p.S459Y	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S459Y|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S459Y			Q6ZVL6	K154L_HUMAN	KIAA1549-like	459						integral component of membrane (GO:0016021)		p.S459Y(2)									GCCATAAAATCTCAGGATTTC	0.448											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S459Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1376A	11						.						138.0	133.0	135.0					11																	33565376		1871	4113	5984	33521952	SO:0001583	missense	25758	exon1			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1376C>A	11.37:g.33565376C>A	ENSP00000315295:p.Ser459Tyr	841	33521952	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.368050	0.01225	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.35	0.999	0.19862	.	0.719740	0.13072	N	0.416001	T	0.30008	0.0751	L	0.50333	1.59	0.09310	N	1	B;B	0.23806	0.004;0.091	B;B	0.17433	0.003;0.018	T	0.30937	-0.9961	9	0.54805	T	0.06	2.8877	1.4142	0.02298	0.1401:0.4041:0.1364:0.3194	.	459;459	E9PAT2;Q6ZVL6-2	.;.	Y	459;459;459;299	.	ENSP00000265654:S459Y	S	+	2	0	C11orf41	33521952	0.000000	0.05858	0.004000	0.12327	0.913000	0.54294	-0.377000	0.07456	0.627000	0.30340	0.442000	0.29010	TCT		0.448	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
KIAA1549L	25758	broad.mit.edu	37	11	33581404	33581404	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33581404C>T	ENST00000321505.4	+	6	3254	c.3074C>T	c.(3073-3075)tCg>tTg	p.S1025L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S1031L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1031L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1025						integral component of membrane (GO:0016021)		p.S1031L(1)|p.S1025L(1)									AGCCAGCTCTCGGCTGAGCTG	0.602																																					p.S1025L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3074T	11						.						115.0	121.0	119.0					11																	33581404		2134	4229	6363	33537980	SO:0001583	missense	25758	exon6			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3074C>T	11.37:g.33581404C>T	ENSP00000315295:p.Ser1025Leu		33537980	NM_012194	B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.553505|5.553505	0.96501|0.96501	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.119448	.|0.64402	.|D	.|0.000014	D|D	0.83151|0.83151	0.5192|0.5192	M|M	0.77103|0.77103	2.36|2.36	0.41093|0.41093	D|D	0.985616|0.985616	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.84883|0.84883	0.0832|0.0832	5|9	.|0.87932	.|D	.|0	-13.0799|-13.0799	19.6376|19.6376	0.95740|0.95740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1031;1031	.|E9PAT2;Q6ZVL6-2	.|.;.	W|L	423|1025;1031;1031;864	.|.	.|ENSP00000265654:S1031L	R|S	+|+	1|2	2|0	C11orf41|C11orf41	33537980|33537980	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.982000|0.982000	0.71751|0.71751	7.430000|7.430000	0.80321|0.80321	2.715000|2.715000	0.92844|0.92844	0.573000|0.573000	0.79308|0.79308	CGG|TCG		0.602	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
LMO2	4005	broad.mit.edu	37	11	33880946	33880946	+	Missense_Mutation	SNP	C	C	T	rs374739443		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:33880946C>T	ENST00000395833.3	-	3	862	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	LMO2_ENST00000257818.2_Missense_Mutation_p.E214K	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	145	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)	p.E145K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATGTCCTGTTCGCACACTATG	0.502			T	TRD@	T-ALL																																p.E145K			Dom	yes		11	11p13	4005	LIM domain only 2 (rhombotin-like 1) (RBTN2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	11						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4404		0,0,2202	134.0	109.0	117.0		433,433,640	5.4	1.0	11		117	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	LMO2	NM_001142315.1,NM_001142316.1,NM_005574.3	56,56,56	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	145/159,145/159,214/228	33880946	1,12999	2202	4298	6500	33837522	SO:0001583	missense	4005	exon3			X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.433G>A	11.37:g.33880946C>T	ENSP00000379175:p.Glu145Lys		33837522	NM_001142316	Q9HD58	Missense_Mutation	SNP	ENST00000395833.3	37	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411241	0.83340	0.0	1.16E-4	ENSG00000135363	ENST00000395833;ENST00000257818	D;D	0.86164	-2.08;-2.08	5.36	5.36	0.76844	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88724	0.6514	L	0.31845	0.965	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70227	0.947;0.968	T	0.82959	-0.0198	10	0.06891	T	0.86	.	19.4655	0.94935	0.0:1.0:0.0:0.0	.	214;145	P25791-3;P25791	.;RBTN2_HUMAN	K	145;214	ENSP00000379175:E145K;ENSP00000257818:E214K	ENSP00000257818:E214K	E	-	1	0	LMO2	33837522	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	7.577000	0.82486	2.692000	0.91855	0.491000	0.48974	GAA		0.502	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1	NM_005574	
CAPRIN1	4076	broad.mit.edu	37	11	34101238	34101238	+	Missense_Mutation	SNP	A	A	G	rs201905401		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34101238A>G	ENST00000341394.4	+	7	941	c.752A>G	c.(751-753)aAc>aGc	p.N251S	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.N251S|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.N251S|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.N251S|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.N170S	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	251					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N251S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGCACCCACAACCACCAGAAT	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		15582	0.0		0.001	False		,,,				2504	0.0				p.N251S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A752G	11						.						98.0	91.0	93.0					11																	34101238		2202	4298	6500	34057814	SO:0001583	missense	4076	exon7			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.752A>G	11.37:g.34101238A>G	ENSP00000340329:p.Asn251Ser		34057814	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	7.556	0.663728	0.14710	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.56	4.44	0.53790	.	0.183072	0.64402	D	0.000016	T	0.17280	0.0415	N	0.17474	0.49	0.34977	D	0.753702	B;B	0.18968	0.032;0.016	B;B	0.14023	0.007;0.01	T	0.17198	-1.0377	10	0.10902	T	0.67	-6.8484	11.6166	0.51094	0.9303:0.0:0.0697:0.0	.	251;251	Q14444;Q14444-2	CAPR1_HUMAN;.	S	251;251;251;251;170	ENSP00000340329:N251S;ENSP00000374296:N251S;ENSP00000434150:N251S;ENSP00000434204:N251S;ENSP00000431581:N170S	ENSP00000340329:N251S	N	+	2	0	CAPRIN1	34057814	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.266000	0.65525	1.056000	0.40484	-0.270000	0.10280	AAC		0.408	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898	
CAPRIN1	4076	broad.mit.edu	37	11	34104523	34104523	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34104523G>A	ENST00000341394.4	+	9	1090	c.901G>A	c.(901-903)Gca>Aca	p.A301T	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.A301T|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.A301T|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.A301T|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.A220T	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	301					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A301T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ACAGTTCATGGCAGAAACACA	0.378																																					p.A301T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901A	11						.						195.0	203.0	200.0					11																	34104523		2202	4298	6500	34061099	SO:0001583	missense	4076	exon9			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.901G>A	11.37:g.34104523G>A	ENSP00000340329:p.Ala301Thr		34061099	NM_203364	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	6.645	0.487455	0.12641	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	6.17	6.17	0.99709	.	0.251234	0.47852	D	0.000210	T	0.17746	0.0426	N	0.13235	0.315	0.36451	D	0.866064	B;B	0.21147	0.031;0.052	B;B	0.16289	0.006;0.015	T	0.16867	-1.0388	10	0.09843	T	0.71	-8.4438	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	301;301	Q14444;Q14444-2	CAPR1_HUMAN;.	T	301;301;301;301;220	ENSP00000340329:A301T;ENSP00000374296:A301T;ENSP00000434150:A301T;ENSP00000434204:A301T;ENSP00000431581:A220T	ENSP00000340329:A301T	A	+	1	0	CAPRIN1	34061099	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.333000	0.52090	2.941000	0.99782	0.655000	0.94253	GCA		0.378	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898	
NAT10	55226	broad.mit.edu	37	11	34133608	34133608	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34133608G>T	ENST00000257829.3	+	4	416	c.210G>T	c.(208-210)aaG>aaT	p.K70N	NAT10_ENST00000527971.1_Missense_Mutation_p.K70N|NAT10_ENST00000531159.2_5'UTR	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	70						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.K70N(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTCACCGGAAGAAAAGAATGC	0.483																																					p.K70N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	11						.						63.0	58.0	60.0					11																	34133608		2202	4298	6500	34090184	SO:0001583	missense	55226	exon4			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.210G>T	11.37:g.34133608G>T	ENSP00000257829:p.Lys70Asn		34090184	NM_024662	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350459	0.61183	.	.	ENSG00000135372	ENST00000257829;ENST00000529523;ENST00000527971	T;T;T	0.33865	1.39;1.39;1.39	5.31	3.44	0.39384	.	0.047342	0.85682	D	0.000000	T	0.66208	0.2766	H	0.94503	3.545	0.80722	D	1	D	0.63880	0.993	D	0.69479	0.964	T	0.71593	-0.4546	10	0.87932	D	0	-21.3798	10.0077	0.41968	0.2189:0.0:0.7811:0.0	.	70	Q9H0A0	NAT10_HUMAN	N	70	ENSP00000257829:K70N;ENSP00000435569:K70N;ENSP00000437324:K70N	ENSP00000257829:K70N	K	+	3	2	NAT10	34090184	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.632000	0.61311	0.629000	0.30376	-0.150000	0.13652	AAG		0.483	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
NAT10	55226	broad.mit.edu	37	11	34152464	34152464	+	Missense_Mutation	SNP	C	C	T	rs148211973	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34152464C>T	ENST00000257829.3	+	13	1555	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.T378M	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	450						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.T450M(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AAGACCACGACGACAGCCAGA	0.592																																					p.T378M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1133T	11						.	C	MET/THR,MET/THR	0,4404		0,0,2202	102.0	89.0	93.0		1133,1349	4.4	0.0	11	dbSNP_134	93	11,8585	8.4+/-32.0	0,11,4287	yes	missense,missense	NAT10	NM_001144030.1,NM_024662.2	81,81	0,11,6489	TT,TC,CC		0.128,0.0,0.0846	possibly-damaging,possibly-damaging	378/954,450/1026	34152464	11,12989	2202	4298	6500	34109040	SO:0001583	missense	55226	exon11			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1349C>T	11.37:g.34152464C>T	ENSP00000257829:p.Thr450Met		34109040	NM_001144030	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780205	0.31502	0.0	0.00128	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.31769	1.49;1.48	5.33	4.42	0.53409	Domain of unknown function DUF699, exodeoxyribonuclease V alpha chain (1);	0.496991	0.25798	N	0.028233	T	0.26484	0.0647	L	0.38175	1.15	0.20403	N	0.999903	B	0.19583	0.037	B	0.18871	0.023	T	0.18304	-1.0341	10	0.49607	T	0.09	-3.8836	14.0935	0.65006	0.0:0.9274:0.0:0.0726	.	450	Q9H0A0	NAT10_HUMAN	M	450;378	ENSP00000257829:T450M;ENSP00000433011:T378M	ENSP00000257829:T450M	T	+	2	0	NAT10	34109040	0.002000	0.14202	0.014000	0.15608	0.986000	0.74619	1.493000	0.35605	1.386000	0.46466	0.561000	0.74099	ACG		0.592	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
CAT	847	broad.mit.edu	37	11	34477737	34477737	+	Silent	SNP	C	C	T	rs373984976		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34477737C>T	ENST00000241052.4	+	7	980	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	297					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.F297F(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTAATCCATTCGATCTCACCA	0.328																																					p.F297F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	11						.	C		0,4404		0,0,2202	47.0	49.0	49.0		891	1.1	1.0	11		49	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	CAT	NM_001752.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		297/528	34477737	2,12998	2202	4298	6500	34434313	SO:0001819	synonymous_variant	847	exon7			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.891C>T	11.37:g.34477737C>T			34434313	NM_001752	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Silent	SNP	ENST00000241052.4	37	CCDS7891.1																																																																																				0.328	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752	
PDHX	8050	broad.mit.edu	37	11	34999702	34999702	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:34999702C>A	ENST00000227868.4	+	8	1080	c.996C>A	c.(994-996)atC>atA	p.I332I	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Silent_p.I317I			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	332					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.I332I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			ATGATTTTATCATCAAGGCAG	0.289																																					p.I332I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996A	11						.						133.0	137.0	136.0					11																	34999702		2202	4293	6495	34956278	SO:0001819	synonymous_variant	8050	exon8			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.996C>A	11.37:g.34999702C>A			34956278	NM_003477	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230393	0.22542	.	.	ENSG00000110435	ENST00000526309	.	.	.	5.74	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.3292	4.9812	0.14166	0.171:0.6154:0.0:0.2137	.	.	.	.	X	20	.	.	S	+	2	0	PDHX	34956278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.321000	0.33678	0.764000	0.33197	0.655000	0.94253	TCA		0.289	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477	
SLC1A2	6506	broad.mit.edu	37	11	35333783	35333783	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:35333783G>T	ENST00000278379.3	-	4	805	c.523C>A	c.(523-525)Ctc>Atc	p.L175I	SLC1A2_ENST00000395753.1_Missense_Mutation_p.L166I|SLC1A2_ENST00000395750.1_Missense_Mutation_p.L166I|SLC1A2_ENST00000606205.1_Missense_Mutation_p.L175I	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	175					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L175I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCAGGGAAGAGATTTCGAATA	0.478																																					p.L175I	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523A	11						.						212.0	208.0	209.0					11																	35333783		2202	4298	6500	35290359	SO:0001583	missense	6506	exon4			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.523C>A	11.37:g.35333783G>T	ENSP00000278379:p.Leu175Ile		35290359	NM_004171	B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918662	0.73098	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753;ENST00000449068	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.76	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	N	0.26042	0.785	0.58432	D	0.999999	P;P	0.41978	0.767;0.642	B;P	0.47528	0.348;0.549	T	0.39761	-0.9598	10	0.32370	T	0.25	-19.1331	8.7425	0.34567	0.1262:0.0:0.7461:0.1277	.	175;175	B4DQE9;P43004	.;EAA2_HUMAN	I	175;166;166;171	ENSP00000278379:L175I;ENSP00000379099:L166I;ENSP00000379102:L166I;ENSP00000406133:L171I	ENSP00000278379:L175I	L	-	1	0	SLC1A2	35290359	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.743000	0.74848	1.432000	0.47375	0.462000	0.41574	CTC		0.478	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171	
PAMR1	25891	broad.mit.edu	37	11	35456131	35456131	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:35456131C>A	ENST00000378880.2	-	10	2000	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	PAMR1_ENST00000278360.3_Missense_Mutation_p.D536Y|PAMR1_ENST00000378878.3_Missense_Mutation_p.D408Y|PAMR1_ENST00000532848.1_Missense_Mutation_p.D479Y	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	519	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.D536Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ACTTTCAGGTCTGCTGTCTTG	0.547																																					p.D519Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1555T	11						.						133.0	118.0	123.0					11																	35456131		2202	4298	6500	35412707	SO:0001583	missense	25891	exon10				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1555G>T	11.37:g.35456131C>A	ENSP00000368158:p.Asp519Tyr		35412707	NM_001001991	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235824	0.58886	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.252679	0.45867	D	0.000339	D	0.91851	0.7421	L	0.41632	1.29	0.44890	D	0.9979	D;D;P	0.71674	0.998;0.963;0.955	D;P;P	0.65323	0.934;0.776;0.748	D	0.92704	0.6177	10	0.87932	D	0	.	19.0909	0.93227	0.0:1.0:0.0:0.0	.	408;519;536	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	Y	536;519;408;479;496	ENSP00000278360:D536Y;ENSP00000368158:D519Y;ENSP00000368156:D408Y;ENSP00000433868:D479Y;ENSP00000432591:D496Y	ENSP00000278360:D536Y	D	-	1	0	PAMR1	35412707	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.087000	0.50167	2.526000	0.85167	0.555000	0.69702	GAC		0.547	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
RAG1	5896	broad.mit.edu	37	11	36595361	36595361	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:36595361G>A	ENST00000299440.5	+	2	619	c.507G>A	c.(505-507)tcG>tcA	p.S169S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	169	Interaction with importin alpha-1.		S -> L (in dbSNP:rs4151027).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S169S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGTTGACTCGATCCACCCCA	0.512									Familial Hemophagocytic Lymphohistiocytosis																												p.S169S	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G507A	11						.						84.0	76.0	79.0					11																	36595361		2202	4298	6500	36551937	SO:0001819	synonymous_variant	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.507G>A	11.37:g.36595361G>A			36551937	NM_000448	E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	CCDS7902.1																																																																																				0.512	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG1	5896	broad.mit.edu	37	11	36596514	36596514	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:36596514G>A	ENST00000299440.5	+	2	1772	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	554					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D554N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTACCCAGTGGACACCATTGC	0.478									Familial Hemophagocytic Lymphohistiocytosis																												p.D554N	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660A	11						.						107.0	92.0	97.0					11																	36596514		2202	4298	6500	36553090	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1660G>A	11.37:g.36596514G>A	ENSP00000299440:p.Asp554Asn		36553090	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411725	0.83340	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86097	-2.07;-2.07	5.58	5.58	0.84498	.	0.157978	0.53938	D	0.000044	D	0.89781	0.6814	M	0.76838	2.35	0.58432	D	0.999999	P	0.42010	0.768	P	0.47891	0.56	D	0.90679	0.4604	10	0.87932	D	0	.	19.6271	0.95682	0.0:0.0:1.0:0.0	.	554	P15918	RAG1_HUMAN	N	554	ENSP00000434610:D554N;ENSP00000299440:D554N	ENSP00000299440:D554N	D	+	1	0	RAG1	36553090	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.649000	0.89929	0.650000	0.86243	GAC		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
LRRC4C	57689	broad.mit.edu	37	11	40136877	40136877	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:40136877C>T	ENST00000278198.2	-	2	2929	c.966G>A	c.(964-966)tcG>tcA	p.S322S	LRRC4C_ENST00000528697.1_Silent_p.S322S|LRRC4C_ENST00000530763.1_Silent_p.S322S|LRRC4C_ENST00000527150.1_Silent_p.S322S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	322	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.S322S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTGTGTTCGAGGGGGCCA	0.493																																					p.S322S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G966A	11						.						92.0	80.0	84.0					11																	40136877		2203	4300	6503	40093453	SO:0001819	synonymous_variant	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.966G>A	11.37:g.40136877C>T			40093453	NM_020929	A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.493	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
HSD17B12	51144	broad.mit.edu	37	11	43876282	43876282	+	Silent	SNP	C	C	T	rs574266495		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:43876282C>T	ENST00000278353.4	+	10	821	c.702C>T	c.(700-702)ttC>ttT	p.F234F	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	234					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)	p.F234F(1)		endometrium(2)|large_intestine(4)|lung(4)	10						TGCCATACTTCGTAGCTACAA	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17933	0.0		0.0	False		,,,				2504	0.0				p.F234F	Ovarian(58;548 1143 13948 16572 34258)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702T	11						.						114.0	118.0	117.0					11																	43876282		2203	4300	6503	43832858	SO:0001819	synonymous_variant	51144	exon10			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.702C>T	11.37:g.43876282C>T			43832858	NM_016142	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	CCDS7905.1																																																																																				0.478	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1		
ACCSL	390110	broad.mit.edu	37	11	44075001	44075001	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44075001C>A	ENST00000378832.1	+	8	1050	c.994C>A	c.(994-996)Ctg>Atg	p.L332M		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	332					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.L332M(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TCAGAATCCTCTGGGTGACAT	0.433																																					p.L332M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C994A	11						.						113.0	104.0	107.0					11																	44075001		1858	4091	5949	44031577	SO:0001583	missense	390110	exon8				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.994C>A	11.37:g.44075001C>A	ENSP00000368109:p.Leu332Met		44031577	NM_001031854		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	9.649	1.141170	0.21205	.	.	ENSG00000205126	ENST00000378832	T	0.24908	1.83	4.45	-3.46	0.04767	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.242590	0.35525	N	0.003157	T	0.46756	0.1409	M	0.92691	3.335	0.36093	D	0.843598	D	0.65815	0.995	D	0.68943	0.961	T	0.51140	-0.8743	10	0.87932	D	0	-5.117	3.0703	0.06229	0.1057:0.4545:0.145:0.2948	.	332	Q4AC99	1A1L2_HUMAN	M	332	ENSP00000368109:L332M	ENSP00000368109:L332M	L	+	1	2	ACCSL	44031577	0.009000	0.17119	0.002000	0.10522	0.001000	0.01503	0.081000	0.14823	-0.726000	0.04895	-2.744000	0.00126	CTG		0.433	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
ACCSL	390110	broad.mit.edu	37	11	44081394	44081394	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44081394G>A	ENST00000378832.1	+	14	1687	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	544					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.R544H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTAGCTATGCGTCGGTTCTGT	0.512																																					p.R544H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1631A	11						.						348.0	343.0	345.0					11																	44081394		2009	4179	6188	44037970	SO:0001583	missense	390110	exon14				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1631G>A	11.37:g.44081394G>A	ENSP00000368109:p.Arg544His		44037970	NM_001031854		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	7.574	0.667313	0.14710	.	.	ENSG00000205126	ENST00000378832	T	0.23950	1.88	3.74	-3.63	0.04529	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.721314	0.13634	N	0.373461	T	0.13243	0.0321	L	0.28608	0.87	0.09310	N	1	B	0.13145	0.007	B	0.15484	0.013	T	0.22208	-1.0223	10	0.26408	T	0.33	0.9755	5.1411	0.14959	0.3484:0.0:0.4859:0.1657	.	544	Q4AC99	1A1L2_HUMAN	H	544	ENSP00000368109:R544H	ENSP00000368109:R544H	R	+	2	0	ACCSL	44037970	0.000000	0.05858	0.002000	0.10522	0.223000	0.24884	-0.069000	0.11542	-0.750000	0.04740	-0.310000	0.09108	CGT		0.512	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
ACCS	84680	broad.mit.edu	37	11	44089232	44089232	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44089232A>G	ENST00000263776.8	+	2	489	c.55A>G	c.(55-57)Acc>Gcc	p.T19A	ACCS_ENST00000432284.2_Missense_Mutation_p.T19A|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	19					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.T19A(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGCCCCACCTGCATGCA	0.557																																					p.T19A	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A55G	11						.						69.0	73.0	72.0					11																	44089232		2203	4300	6503	44045808	SO:0001583	missense	84680	exon2			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.55A>G	11.37:g.44089232A>G	ENSP00000263776:p.Thr19Ala		44045808	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	0.417	-0.910247	0.02434	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.59364	0.97;0.27;0.97;1.07	5.43	0.0996	0.14503	.	0.861636	0.10406	N	0.678505	T	0.26738	0.0654	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22836	-1.0205	10	0.07030	T	0.85	-0.427	7.4529	0.27248	0.2042:0.1334:0.6623:0.0	.	19;19	B4E219;Q96QU6	.;1A1L1_HUMAN	A	19	ENSP00000434156:T19A;ENSP00000263776:T19A;ENSP00000391775:T19A;ENSP00000435919:T19A	ENSP00000263776:T19A	T	+	1	0	ACCS	44045808	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.167000	0.09940	-0.164000	0.10927	-3.370000	0.00041	ACC		0.557	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
ACCS	84680	broad.mit.edu	37	11	44089380	44089380	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44089380G>T	ENST00000263776.8	+	2	637	c.203G>T	c.(202-204)aGa>aTa	p.R68I	ACCS_ENST00000432284.2_Missense_Mutation_p.R68I|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	68					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R68I(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTAGAGGAAGAATGATTAAA	0.517																																					p.R68I	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203T	11						.						84.0	75.0	78.0					11																	44089380		2203	4300	6503	44045956	SO:0001583	missense	84680	exon2			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.203G>T	11.37:g.44089380G>T	ENSP00000263776:p.Arg68Ile		44045956	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659664	0.29515	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.60797	0.93;0.16;0.93;0.66	5.57	0.586	0.17434	Pyridoxal phosphate-dependent transferase, major domain (1);	0.547984	0.20511	N	0.090885	T	0.47783	0.1464	N	0.25647	0.755	0.09310	N	0.999995	D;B	0.60575	0.988;0.0	P;B	0.51324	0.666;0.002	T	0.40850	-0.9541	9	.	.	.	-0.0063	8.2894	0.31948	0.5857:0.0:0.4143:0.0	.	68;68	B4E219;Q96QU6	.;1A1L1_HUMAN	I	68	ENSP00000434156:R68I;ENSP00000263776:R68I;ENSP00000391775:R68I;ENSP00000435919:R68I	.	R	+	2	0	ACCS	44045956	0.016000	0.18221	0.009000	0.14445	0.995000	0.86356	1.051000	0.30417	0.064000	0.16427	0.655000	0.94253	AGA		0.517	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
ACCS	84680	broad.mit.edu	37	11	44101168	44101168	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44101168A>C	ENST00000263776.8	+	10	1355	c.921A>C	c.(919-921)gaA>gaC	p.E307D		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	307					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.E307D(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TAAGCCTGGAAAGGTGAGGCT	0.582																																					p.E307D	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A921C	11						.						170.0	119.0	136.0					11																	44101168		2203	4300	6503	44057744	SO:0001583	missense	84680	exon10			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.921A>C	11.37:g.44101168A>C	ENSP00000263776:p.Glu307Asp		44057744	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	A	8.421	0.846383	0.16963	.	.	ENSG00000110455	ENST00000263776	D	0.90620	-2.7	5.84	-2.88	0.05682	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.151648	0.56097	N	0.000024	T	0.68081	0.2962	N	0.02721	-0.515	0.80722	D	1	B	0.13594	0.008	B	0.23150	0.044	T	0.49890	-0.8891	10	0.10636	T	0.68	-6.2727	2.7898	0.05384	0.4796:0.2717:0.1569:0.0918	.	307	Q96QU6	1A1L1_HUMAN	D	307	ENSP00000263776:E307D	ENSP00000263776:E307D	E	+	3	2	ACCS	44057744	0.560000	0.26570	0.773000	0.31616	0.113000	0.19764	-0.165000	0.09968	-0.391000	0.07763	-0.333000	0.08304	GAA		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
ACCS	84680	broad.mit.edu	37	11	44104770	44104770	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44104770C>T	ENST00000263776.8	+	13	1597	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	388					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.A388V(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTCAAGGCTGCCCACACCTAT	0.527																																					p.A388V	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1163T	11						.						121.0	118.0	119.0					11																	44104770		2203	4300	6503	44061346	SO:0001583	missense	84680	exon13			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1163C>T	11.37:g.44104770C>T	ENSP00000263776:p.Ala388Val		44061346	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895603	0.91962	.	.	ENSG00000110455	ENST00000263776	T	0.22134	1.97	5.77	5.77	0.91146	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	M	0.87547	2.89	0.80722	D	1	D	0.65815	0.995	D	0.65323	0.934	T	0.54603	-0.8269	10	0.46703	T	0.11	-23.0706	19.5934	0.95525	0.0:1.0:0.0:0.0	.	388	Q96QU6	1A1L1_HUMAN	V	388	ENSP00000263776:A388V	ENSP00000263776:A388V	A	+	2	0	ACCS	44061346	1.000000	0.71417	0.992000	0.48379	0.539000	0.34962	4.469000	0.60169	2.724000	0.93272	0.561000	0.74099	GCC		0.527	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
EXT2	2132	broad.mit.edu	37	11	44165823	44165823	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44165823G>T	ENST00000343631.3	+	7	1302				EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000358681.4_Missense_Mutation_p.E400D			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2						carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.E400D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCAGGAGAGAGAACTGGTCAG	0.453			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																												p.E400D		yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1200T	11						.						196.0	182.0	186.0					11																	44165823		876	1990	2866	44122399	SO:0001627	intron_variant	2132	exon8	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1173+14135G>T	11.37:g.44165823G>T			44122399	NM_001178083	B2R5Z6|C9JU51|J3KPT2|O15288	Intron	SNP	ENST00000343631.3	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931770	0.18131	.	.	ENSG00000151348	ENST00000358681	D	0.94723	-3.5	5.52	3.63	0.41609	.	.	.	.	.	D	0.86539	0.5957	N	0.08118	0	0.19775	N	0.999957	B	0.02656	0.0	B	0.06405	0.002	T	0.77838	-0.2439	9	0.66056	D	0.02	.	8.0902	0.30797	0.249:0.0:0.751:0.0	.	400	C9JU51	.	D	400	ENSP00000351509:E400D	ENSP00000351509:E400D	E	+	3	2	EXT2	44122399	0.183000	0.23186	0.025000	0.17156	0.738000	0.42128	0.579000	0.23788	0.680000	0.31366	0.650000	0.86243	GAG		0.453	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	
TSPAN18	90139	broad.mit.edu	37	11	44941422	44941422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:44941422C>T	ENST00000520358.2	+	8	902	c.487C>T	c.(487-489)Cga>Tga	p.R163*	TSPAN18_ENST00000340160.3_Nonsense_Mutation_p.R163*			Q96SJ8	TSN18_HUMAN	tetraspanin 18	163						integral component of membrane (GO:0016021)		p.R163*(1)		endometrium(1)|large_intestine(6)|lung(3)	10						ATCTGTGTTTCGACTCCTGAC	0.607																																					p.R163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C487T	11						.						147.0	149.0	149.0					11																	44941422		2203	4299	6502	44897998	SO:0001587	stop_gained	90139	exon7			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.487C>T	11.37:g.44941422C>T	ENSP00000429993:p.Arg163*		44897998	NM_130783	Q6UY44|Q8NBI9	Nonsense_Mutation	SNP	ENST00000520358.2	37	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.111874|3.111874	0.56398|0.56398	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533080;ENST00000520358;ENST00000340160|ENST00000518429	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	3.893800|.	0.00763|.	N|.	0.001152|.	.|T	.|0.74114	.|0.3674	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72811	.|-0.4180	.|4	0.02654|.	T|.	1|.	.|.	18.0206|18.0206	0.89253|0.89253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	98;163;163|166	.|.	ENSP00000339820:R163X|.	R|S	+|+	1|2	2|0	TSPAN18|TSPAN18	44897998|44897998	1.000000|1.000000	0.71417|0.71417	0.207000|0.207000	0.23584|0.23584	0.102000|0.102000	0.19082|0.19082	4.208000|4.208000	0.58486|0.58486	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.607	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783	
PEX16	9409	broad.mit.edu	37	11	45937274	45937274	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:45937274G>A	ENST00000378750.5	-	4	582	c.339C>T	c.(337-339)atC>atT	p.I113I	PEX16_ENST00000532681.1_Silent_p.I18I|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000241041.3_Silent_p.I113I			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	113					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)	p.I113I(1)		large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GGACGAGGGCGATGACAAGCC	0.612																																					p.I113I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C339T	11						.						149.0	144.0	146.0					11																	45937274		2203	4299	6502	45893850	SO:0001819	synonymous_variant	9409	exon4			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.339C>T	11.37:g.45937274G>A			45893850	NM_057174	Q9BWB9	Silent	SNP	ENST00000378750.5	37	CCDS31472.1																																																																																				0.612	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174	
GYLTL1B	120071	broad.mit.edu	37	11	45949913	45949913	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:45949913T>G	ENST00000531526.1	+	13	2051	c.1940T>G	c.(1939-1941)cTg>cGg	p.L647R	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.L647R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.L616R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.L616R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.L647R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	647					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L647R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATTGTGGAGCTGGATGCCCAG	0.602																																					p.L647R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1940G	11						.						105.0	103.0	104.0					11																	45949913		2203	4299	6502	45906489	SO:0001583	missense	120071	exon13				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1940T>G	11.37:g.45949913T>G	ENSP00000432869:p.Leu647Arg		45906489	NM_152312	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530514	0.85706	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	T	0.77918	-0.2408	10	0.87932	D	0	-15.5126	15.7274	0.77774	0.0:0.0:0.0:1.0	.	616;616;647	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	R	616;647;647;647;616	ENSP00000431932:L616R;ENSP00000432869:L647R;ENSP00000385235:L647R;ENSP00000324570:L647R;ENSP00000445044:L616R	ENSP00000324570:L647R	L	+	2	0	GYLTL1B	45906489	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.698000	0.84413	2.110000	0.64415	0.459000	0.35465	CTG		0.602	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
PHF21A	51317	broad.mit.edu	37	11	45957290	45957290	+	Splice_Site	SNP	G	G	T	rs368750735|rs375462362|rs183908133		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:45957290G>T	ENST00000418153.2	-	17	1881	c.1682C>A	c.(1681-1683)gCa>gAa	p.A561E	PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000257821.4_Splice_Site_p.A562E|PHF21A_ENST00000323180.6_Splice_Site_p.A515E			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	561	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTCTTCTTTTGCTaaaaaaaa	0.333																																					p.A561E												.	.	0			c.C1682A	11						.						94.0	82.0	86.0					11																	45957290		2201	4298	6499	45913866	SO:0001630	splice_region_variant	51317	exon17			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1682-1C>A	11.37:g.45957290G>T			45913866	NM_001101802	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	CCDS44578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437809|4.437809	0.83885|0.83885	.|.	.|.	ENSG00000135365|ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028|ENST00000525676	T;T;T|.	0.57752|.	0.38;0.38;0.38|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.049472|.	0.85682|.	D|.	0.000000|.	T|T	0.70833|0.70833	0.3269|0.3269	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.998|.	D;D;D|.	0.91635|.	0.993;0.999;0.994|.	T|T	0.68565|0.68565	-0.5375|-0.5375	10|5	0.05620|.	T|.	0.96|.	.|.	18.5929|18.5929	0.91220|0.91220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	561;515;562|.	Q96BD5;Q96BD5-2;Q96BD5-3|.	PF21A_HUMAN;.;.|.	E|R	562;515;561;36|5	ENSP00000257821:A562E;ENSP00000323152:A515E;ENSP00000398824:A561E|.	ENSP00000257821:A562E|.	A|S	-|-	2|3	0|2	PHF21A|PHF21A	45913866|45913866	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.676000|0.676000	0.39594|0.39594	9.571000|9.571000	0.98176|0.98176	2.461000|2.461000	0.83175|0.83175	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.333	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	Missense_Mutation
PHF21A	51317	broad.mit.edu	37	11	45991374	45991374	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:45991374G>T	ENST00000418153.2	-	8	890	c.691C>A	c.(691-693)Ctt>Att	p.L231I	PHF21A_ENST00000257821.4_Missense_Mutation_p.L232I|PHF21A_ENST00000323180.6_Missense_Mutation_p.L232I			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	231					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L232I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						ACCTGTGGAAGAAAGTTTGGA	0.463																																					p.L231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691A	11						.						102.0	95.0	97.0					11																	45991374		2202	4299	6501	45947950	SO:0001583	missense	51317	exon8			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.691C>A	11.37:g.45991374G>T	ENSP00000398824:p.Leu231Ile		45947950	NM_001101802	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	ENST00000418153.2	37	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467073	0.96257	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.49720	0.77;0.77;0.77	5.5	5.5	0.81552	.	0.067855	0.64402	D	0.000005	T	0.58278	0.2111	M	0.66939	2.045	0.53688	D	0.99997	D;D	0.63046	0.989;0.992	P;P	0.51385	0.572;0.668	T	0.53795	-0.8388	10	0.23302	T	0.38	-7.6421	19.3979	0.94614	0.0:0.0:1.0:0.0	.	231;232	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	I	232;232;231	ENSP00000257821:L232I;ENSP00000323152:L232I;ENSP00000398824:L231I	ENSP00000257821:L232I	L	-	1	0	PHF21A	45947950	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.074000	0.93998	2.595000	0.87683	0.655000	0.94253	CTT		0.463	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
CHRM4	1132	broad.mit.edu	37	11	46406921	46406921	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:46406921C>T	ENST00000433765.2	-	1	1186	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	396					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R396H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCACTTTGCGCTCCCGGGC	0.632																																					p.R396H	Esophageal Squamous(171;1020 1936 4566 30205 42542)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187A	11						.						83.0	87.0	86.0					11																	46406921		2189	4297	6486	46363497	SO:0001583	missense	1132	exon1			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1187G>A	11.37:g.46406921C>T	ENSP00000409378:p.Arg396His		46363497	NM_000741	B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	17.80	3.477497	0.63849	.	.	ENSG00000180720	ENST00000433765	T	0.73681	-0.77	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58864	0.2152	N	0.20845	0.615	0.33116	D	0.541173	P	0.52463	0.953	B	0.43386	0.418	T	0.68891	-0.5289	9	0.87932	D	0	-14.6387	5.431	0.16454	0.0:0.7546:0.0:0.2454	.	396	P08173	ACM4_HUMAN	H	396	ENSP00000409378:R396H	ENSP00000409378:R396H	R	-	2	0	CHRM4	46363497	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.167000	0.50793	2.395000	0.81488	0.457000	0.33378	CGC		0.632	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741	
ATG13	9776	broad.mit.edu	37	11	46693837	46693837	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:46693837G>T	ENST00000434074.1	+	17	2198	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	ATG13_ENST00000451945.1_Missense_Mutation_p.E466D|ATG13_ENST00000528494.1_Missense_Mutation_p.E536D|ATG13_ENST00000312040.4_Missense_Mutation_p.E503D|ATG13_ENST00000524625.1_Missense_Mutation_p.E466D|ATG13_ENST00000359513.4_Missense_Mutation_p.E503D|ATG13_ENST00000530500.1_Missense_Mutation_p.E387D|ATG13_ENST00000526508.1_Missense_Mutation_p.E503D|ATG13_ENST00000529655.1_Missense_Mutation_p.E466D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	503					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.E466D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CTGTGCATGAGAAGAATGTCC	0.547																																					p.E503D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1509T	11						.						190.0	186.0	187.0					11																	46693837		2201	4299	6500	46650413	SO:0001583	missense	9776	exon18			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1509G>T	11.37:g.46693837G>T	ENSP00000400642:p.Glu503Asp		46650413	NM_001142673	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	CCDS44582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.882900|4.882900	0.91740|0.91740	.|.	.|.	ENSG00000175224|ENSG00000175224	ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494|ENST00000531933	.|.	.|.	.|.	5.87|5.87	4.96|4.96	0.65561|0.65561	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.65831|.	0.2729|.	L|L	0.61218|0.61218	1.895|1.895	0.53688|0.53688	D|D	0.999978|0.999978	P;D;D;D|.	0.71674|.	0.849;0.998;0.998;0.997|.	B;D;D;D|.	0.77557|.	0.386;0.986;0.99;0.99|.	T|.	0.68903|.	-0.5286|.	9|.	0.87932|0.87932	D|D	0|0	-22.0275|-22.0275	10.9019|10.9019	0.47056|0.47056	0.1423:0.0:0.8577:0.0|0.1423:0.0:0.8577:0.0	.|.	387;503;536;466|.	B4DFI4;O75143;E9PQZ8;O75143-2|.	.;ATG13_HUMAN;.;.|.	D|X	503;503;466;466;387;503;466;503;536|33	.|.	ENSP00000310321:E503D|ENSP00000434125:E33X	E|E	+|+	3|1	2|0	ATG13|ATG13	46650413|46650413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.562000|5.562000	0.67346|0.67346	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.547	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741	
F2	2147	broad.mit.edu	37	11	46760879	46760879	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:46760879A>G	ENST00000311907.5	+	14	1846	c.1790A>G	c.(1789-1791)gAt>gGt	p.D597G	F2_ENST00000530231.1_Missense_Mutation_p.D558G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	597	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.D597G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TGTGACCGGGATGGGAAATAT	0.488																																					p.D597G	Esophageal Squamous(147;1147 1808 2148 38609 51144)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1790G	11						.						131.0	130.0	130.0					11																	46760879		2201	4299	6500	46717455	SO:0001583	missense	2147	exon14			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1790A>G	11.37:g.46760879A>G	ENSP00000308541:p.Asp597Gly		46717455	NM_000506	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582365	0.86748	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.87650	-2.28;-2.28	5.34	5.34	0.76211	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.204996	0.49916	D	0.000128	D	0.82490	0.5048	N	0.02876	-0.465	0.58432	D	0.999993	P	0.44627	0.839	P	0.55260	0.772	D	0.87694	0.2556	10	0.87932	D	0	.	15.3645	0.74510	1.0:0.0:0.0:0.0	.	597	P00734	THRB_HUMAN	G	597;558	ENSP00000308541:D597G;ENSP00000433907:D558G	ENSP00000308541:D597G	D	+	2	0	F2	46717455	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.339000	0.96797	2.027000	0.59764	0.456000	0.33151	GAT		0.488	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		
LRP4	4038	broad.mit.edu	37	11	46903303	46903303	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:46903303C>T	ENST00000378623.1	-	20	3006	c.2764G>A	c.(2764-2766)Gcc>Acc	p.A922T		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	922					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.A922T(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCATGCCGGCGTCAGCCCAG	0.498																																					p.A922T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2764A	11						.						136.0	127.0	130.0					11																	46903303		2201	4299	6500	46859879	SO:0001583	missense	4038	exon20			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2764G>A	11.37:g.46903303C>T	ENSP00000367888:p.Ala922Thr		46859879	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328550	0.95733	.	.	ENSG00000134569	ENST00000378623	D	0.96427	-4.01	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97933	1.0321	10	0.54805	T	0.06	.	20.0734	0.97734	0.0:1.0:0.0:0.0	.	922	O75096	LRP4_HUMAN	T	922	ENSP00000367888:A922T	ENSP00000367888:A922T	A	-	1	0	LRP4	46859879	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	7.779000	0.85648	2.751000	0.94390	0.555000	0.69702	GCC		0.498	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
ARFGAP2	84364	broad.mit.edu	37	11	47193020	47193020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47193020G>A	ENST00000524782.1	-	10	1126	c.898C>T	c.(898-900)Cga>Tga	p.R300*	ARFGAP2_ENST00000426335.2_Nonsense_Mutation_p.R164*|ARFGAP2_ENST00000419701.2_Nonsense_Mutation_p.R193*|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000319543.6_Nonsense_Mutation_p.R31*|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	300	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R300*(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCTGCTCTCGCTTCTTCCCT	0.552																																					p.R300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C898T	11						.						276.0	263.0	267.0					11																	47193020		2201	4299	6500	47149596	SO:0001587	stop_gained	84364	exon10			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.898C>T	11.37:g.47193020G>A	ENSP00000434442:p.Arg300*		47149596	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Nonsense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.744011|4.744011	0.89663|0.89663	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000527776|ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000527927;ENST00000525398	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.106715	.|0.64402	.|D	.|0.000006	T|.	0.53658|.	0.1810|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42085|.	-0.9472|.	3|.	.|0.07325	.|T	.|0.83	-0.5127|-0.5127	19.756|19.756	0.96291|0.96291	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	30|164;300;31;193;164;314	.|.	.|ENSP00000327309:R31X	A|R	-|-	2|1	0|2	ARFGAP2|ARFGAP2	47149596|47149596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.633000|4.633000	0.61318|0.61318	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.552	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	
DDB2	1643	broad.mit.edu	37	11	47259489	47259489	+	Silent	SNP	C	C	T	rs185380045		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47259489C>T	ENST00000256996.4	+	8	1320	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Silent_p.F311F|DDB2_ENST00000378600.3_Silent_p.F186F	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	375					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.F375F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TCGACGTGTTCGATGGAAACT	0.488			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C|||	1	0.000199681	0.0	0.0014	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0				p.F375F		yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1125T	11						.						119.0	108.0	111.0					11																	47259489		2201	4298	6499	47216065	SO:0001819	synonymous_variant	1643	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1125C>T	11.37:g.47259489C>T			47216065	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	ENST00000256996.4	37	CCDS7927.1																																																																																				0.488	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
MADD	8567	broad.mit.edu	37	11	47331142	47331142	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47331142C>A	ENST00000311027.5	+	28	4302	c.4137C>A	c.(4135-4137)atC>atA	p.I1379I	MADD_ENST00000405573.2_Silent_p.I189I|MADD_ENST00000406482.1_Silent_p.I1277I|MADD_ENST00000349238.3_Silent_p.I1340I|MADD_ENST00000402192.2_Silent_p.I1319I|MADD_ENST00000342922.4_Silent_p.I1320I|MADD_ENST00000407859.3_Silent_p.I1297I|MADD_ENST00000395344.3_Silent_p.I1273I|MADD_ENST00000395336.3_Silent_p.I1379I|MADD_ENST00000402799.1_Silent_p.I1277I	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.I1379I(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAACCTCATCTCCTACATGC	0.507																																					p.I1379I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4137A	11						.						150.0	132.0	138.0					11																	47331142		2201	4298	6499	47287718	SO:0001819	synonymous_variant	8567	exon28			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4137C>A	11.37:g.47331142C>A			47287718	NM_003682		Silent	SNP	ENST00000311027.5	37	CCDS7930.1																																																																																				0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
MADD	8567	broad.mit.edu	37	11	47333316	47333316	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47333316C>T	ENST00000311027.5	+	29	4357	c.4192C>T	c.(4192-4194)Cgc>Tgc	p.R1398C	MADD_ENST00000405573.2_Missense_Mutation_p.R208C|MADD_ENST00000406482.1_Missense_Mutation_p.R1296C|MADD_ENST00000349238.3_Missense_Mutation_p.R1359C|MADD_ENST00000402192.2_Missense_Mutation_p.R1338C|MADD_ENST00000342922.4_Missense_Mutation_p.R1339C|MADD_ENST00000407859.3_Missense_Mutation_p.R1316C|MADD_ENST00000395344.3_Missense_Mutation_p.R1292C|MADD_ENST00000395336.3_Missense_Mutation_p.R1398C|MADD_ENST00000402799.1_Missense_Mutation_p.R1296C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.R1398C(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAAGGTGAGGCGCCTAATGGG	0.502																																					p.R1398C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4192T	11						.						109.0	98.0	102.0					11																	47333316		2201	4298	6499	47289892	SO:0001583	missense	8567	exon29			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4192C>T	11.37:g.47333316C>T	ENSP00000310933:p.Arg1398Cys		47289892	NM_003682		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925140	0.92319	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.61274	2.6;2.43;2.45;2.57;2.55;2.45;2.47;2.57;2.6;0.12	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.983;0.983;0.999;0.993;0.993;0.993;0.999;0.999;0.998;0.999	T	0.78548	-0.2162	10	0.87932	D	0	-11.9969	18.6155	0.91302	0.0:1.0:0.0:0.0	.	208;1292;1292;1398;1296;1296;1296;1359;1316;1398;1339	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	1339;1296;1296;1296;1359;1398;1316;1292;1398;1338;208	ENSP00000343902:R1339C;ENSP00000385585:R1296C;ENSP00000384435:R1296C;ENSP00000304505:R1359C;ENSP00000310933:R1398C;ENSP00000384204:R1316C;ENSP00000378753:R1292C;ENSP00000378745:R1398C;ENSP00000384287:R1338C;ENSP00000384483:R208C	ENSP00000310933:R1398C	R	+	1	0	MADD	47289892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.375000	0.79646	2.378000	0.81104	0.563000	0.77884	CGC		0.502	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
AGBL2	79841	broad.mit.edu	37	11	47688556	47688556	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47688556C>A	ENST00000525123.1	-	17	2685	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	AGBL2_ENST00000528244.1_Missense_Mutation_p.E762D|AGBL2_ENST00000357610.3_Missense_Mutation_p.E802D|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000298861.4_Missense_Mutation_p.E800D	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	800						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E800D(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AACTGGAATTCTCTGAGTTTT	0.343																																					p.E800D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2400T	11						.						66.0	67.0	67.0					11																	47688556		2201	4298	6499	47645132	SO:0001583	missense	79841	exon16				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2400G>T	11.37:g.47688556C>A	ENSP00000435582:p.Glu800Asp		47645132	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060989	0.36373	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.10960	2.86;2.86;2.86;2.82	5.3	2.43	0.29744	.	0.284037	0.25270	N	0.031895	T	0.10981	0.0268	L	0.60455	1.87	0.22354	N	0.999178	P;P	0.46395	0.731;0.877	B;B	0.40901	0.343;0.257	T	0.14699	-1.0463	10	0.41790	T	0.15	-18.0701	7.5365	0.27712	0.0:0.7304:0.0:0.2696	.	762;800	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	D	183;800;802;800;762	ENSP00000435582:E800D;ENSP00000350228:E802D;ENSP00000298861:E800D;ENSP00000436630:E762D	ENSP00000298861:E800D	E	-	3	2	AGBL2	47645132	0.808000	0.29022	0.074000	0.20217	0.242000	0.25591	1.311000	0.33562	0.328000	0.23435	-0.218000	0.12543	GAG		0.343	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
AGBL2	79841	broad.mit.edu	37	11	47698868	47698868	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47698868A>C	ENST00000525123.1	-	14	2387	c.2102T>G	c.(2101-2103)tTa>tGa	p.L701*	AGBL2_ENST00000528244.1_Nonsense_Mutation_p.L663*|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.L701*|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000298861.4_Nonsense_Mutation_p.L701*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	701						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L701*(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACTTCCTTCTAAATCTACATC	0.348																																					p.L701X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2102G	11						.						90.0	83.0	85.0					11																	47698868		2201	4298	6499	47655444	SO:0001587	stop_gained	79841	exon13				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2102T>G	11.37:g.47698868A>C	ENSP00000435582:p.Leu701*		47655444	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Nonsense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	A	38	6.887491	0.97912	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	.	.	.	6.03	6.03	0.97812	.	0.509299	0.20538	N	0.090374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-12.5547	7.5872	0.27999	0.8488:0.0:0.1512:0.0	.	.	.	.	X	84;701;701;701;663	.	ENSP00000298861:L701X	L	-	2	0	AGBL2	47655444	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	2.316000	0.43761	2.313000	0.78055	0.454000	0.30748	TTA		0.348	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
AGBL2	79841	broad.mit.edu	37	11	47701597	47701597	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47701597G>A	ENST00000525123.1	-	13	2229	c.1944C>T	c.(1942-1944)atC>atT	p.I648I	AGBL2_ENST00000528244.1_Silent_p.I610I|AGBL2_ENST00000357610.3_Silent_p.I648I|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Silent_p.I648I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	648						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I648I(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCAGATCTTCGATGGTAAAGT	0.353																																					p.I648I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1944T	11						.						93.0	87.0	89.0					11																	47701597		2201	4298	6499	47658173	SO:0001819	synonymous_variant	79841	exon12				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1944C>T	11.37:g.47701597G>A			47658173	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	CCDS7944.1																																																																																				0.353	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
AGBL2	79841	broad.mit.edu	37	11	47707499	47707499	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:47707499G>A	ENST00000525123.1	-	11	2019	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	AGBL2_ENST00000528244.1_Silent_p.Y540Y|AGBL2_ENST00000357610.3_Silent_p.Y578Y|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Silent_p.Y578Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	578						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y578Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CATGAAGCCAGTATTTGCGAT	0.373																																					p.Y578Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1734T	11						.						228.0	209.0	215.0					11																	47707499		2201	4298	6499	47664075	SO:0001819	synonymous_variant	79841	exon10				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1734C>T	11.37:g.47707499G>A			47664075	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Silent	SNP	ENST00000525123.1	37	CCDS7944.1																																																																																				0.373	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
PTPRJ	5795	broad.mit.edu	37	11	48161171	48161171	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48161171G>A	ENST00000418331.2	+	11	2638	c.2286G>A	c.(2284-2286)gcG>gcA	p.A762A		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	762	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A762A(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAACAATGCGACCCACCTGG	0.537																																					p.A762A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2286A	11						.						91.0	85.0	87.0					11																	48161171		2201	4298	6499	48117747	SO:0001819	synonymous_variant	5795	exon11			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2286G>A	11.37:g.48161171G>A			48117747	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	CCDS7945.1																																																																																				0.537	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
PTPRJ	5795	broad.mit.edu	37	11	48171733	48171733	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48171733G>A	ENST00000418331.2	+	18	3488	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1046	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.E1046K(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGAGGAATACGAAGTATGTTG	0.443																																					p.E1046K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3136A	11						.						112.0	117.0	115.0					11																	48171733		2201	4298	6499	48128309	SO:0001583	missense	5795	exon18			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3136G>A	11.37:g.48171733G>A	ENSP00000400010:p.Glu1046Lys		48128309	NM_002843	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	36	5.606047	0.96626	.	.	ENSG00000149177	ENST00000418331	T	0.13778	2.56	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	.	.	.	.	T	0.31263	0.0791	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.01056	-1.1466	9	0.87932	D	0	.	16.8782	0.86057	0.0:0.0:1.0:0.0	.	1046	Q12913	PTPRJ_HUMAN	K	1046	ENSP00000400010:E1046K	ENSP00000400010:E1046K	E	+	1	0	PTPRJ	48128309	1.000000	0.71417	0.225000	0.23894	0.292000	0.27327	9.201000	0.95017	2.575000	0.86900	0.561000	0.74099	GAA		0.443	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1		
OR4B1	119765	broad.mit.edu	37	11	48238765	48238765	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48238765G>A	ENST00000309562.2	+	1	422	c.404G>A	c.(403-405)aGt>aAt	p.S135N		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S135N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AACATTATCAGTCGTCAACTG	0.463																																					p.S135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G404A	11						.						109.0	104.0	106.0					11																	48238765		2201	4298	6499	48195341	SO:0001583	missense	119765	exon1			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.404G>A	11.37:g.48238765G>A	ENSP00000311605:p.Ser135Asn		48195341	NM_001005470	Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	0.151	-1.090979	0.01858	.	.	ENSG00000175619	ENST00000309562	T	0.38887	1.11	5.38	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.199636	0.35585	N	0.003115	T	0.14830	0.0358	N	0.04636	-0.2	0.19775	N	0.999957	B	0.06786	0.001	B	0.15870	0.014	T	0.33240	-0.9876	10	0.02654	T	1	.	7.469	0.27338	0.4763:0.0:0.5237:0.0	.	135	Q8NGF8	OR4B1_HUMAN	N	135	ENSP00000311605:S135N	ENSP00000311605:S135N	S	+	2	0	OR4B1	48195341	0.000000	0.05858	0.329000	0.25429	0.871000	0.50021	-0.847000	0.04331	0.167000	0.19631	0.494000	0.49563	AGT		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470	
OR4X2	119764	broad.mit.edu	37	11	48266818	48266818	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48266818C>A	ENST00000302329.3	+	1	211	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L55I(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTACTTCTTCCTCAGCTACCT	0.493																																					p.L55I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163A	11						.						186.0	172.0	177.0					11																	48266818		2201	4298	6499	48223394	SO:0001583	missense	119764	exon1			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.163C>A	11.37:g.48266818C>A	ENSP00000307751:p.Leu55Ile		48223394	NM_001004727	B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827866	0.71143	.	.	ENSG00000172208	ENST00000302329	T	0.13778	2.56	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000195	T	0.41419	0.1158	M	0.81179	2.53	0.30506	N	0.769889	D	0.89917	1.0	D	0.83275	0.996	T	0.46400	-0.9194	10	0.87932	D	0	.	16.612	0.84885	0.0:1.0:0.0:0.0	.	55	Q8NGF9	OR4X2_HUMAN	I	55	ENSP00000307751:L55I	ENSP00000307751:L55I	L	+	1	0	OR4X2	48223394	0.257000	0.24022	0.998000	0.56505	0.931000	0.56810	0.048000	0.14078	2.496000	0.84212	0.650000	0.86243	CTC		0.493	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
OR4C3	256144	broad.mit.edu	37	11	48347317	48347317	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48347317C>A	ENST00000319856.4	+	1	846	c.825C>A	c.(823-825)ttC>ttA	p.F275L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F275L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTGCCTTGTTCTTTGTGCCCT	0.418																																					p.F275L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C825A	11						.						286.0	258.0	268.0					11																	48347317		2201	4298	6499	48303893	SO:0001583	missense	256144	exon1			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.825C>A	11.37:g.48347317C>A	ENSP00000321419:p.Phe275Leu		48303893	NM_001004702	B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968411	0.34754	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00285	8.3	5.97	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00328	0.0010	M	0.75615	2.305	0.31598	N	0.653069	B	0.25206	0.12	B	0.34873	0.191	T	0.04840	-1.0923	10	0.72032	D	0.01	.	9.6035	0.39619	0.0:0.8424:0.0:0.1576	.	248	Q8NH37	OR4C3_HUMAN	L	275;138	ENSP00000321419:F275L	ENSP00000321419:F275L	F	+	3	2	OR4C3	48303893	0.002000	0.14202	1.000000	0.80357	0.388000	0.30384	-0.210000	0.09345	2.838000	0.97847	0.561000	0.74099	TTC		0.418	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
OR4A47	403253	broad.mit.edu	37	11	48510852	48510852	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:48510852A>T	ENST00000446524.1	+	1	584	c.508A>T	c.(508-510)Aat>Tat	p.N170Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N170Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTGTGGCCCCAATGTCATTGA	0.463																																					p.N170Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A508T	11						.						149.0	142.0	144.0					11																	48510852		2201	4295	6496	48467428	SO:0001583	missense	403253	exon1			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.508A>T	11.37:g.48510852A>T	ENSP00000412752:p.Asn170Tyr		48467428	NM_001005512		Missense_Mutation	SNP	ENST00000446524.1	37	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.908	1.208681	0.22205	.	.	ENSG00000237388	ENST00000446524	T	0.00262	8.4	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.00666	0.0022	M	0.92923	3.36	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.29305	-1.0016	10	0.72032	D	0.01	.	7.231	0.26043	0.8995:0.0:0.1005:0.0	.	170	Q6IF82	O4A47_HUMAN	Y	170	ENSP00000412752:N170Y	ENSP00000412752:N170Y	N	+	1	0	OR4A47	48467428	0.087000	0.21565	0.470000	0.27216	0.058000	0.15608	2.786000	0.47790	1.799000	0.52666	0.418000	0.28097	AAT		0.463	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512	
OR4C13	283092	broad.mit.edu	37	11	49974602	49974602	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:49974602C>A	ENST00000555099.1	+	1	660	c.628C>A	c.(628-630)Ctc>Atc	p.L210I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L210I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GTTAAACTGTCTCTTGCTCCT	0.493																																					p.L210I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628A	11						.						202.0	165.0	177.0					11																	49974602		2201	4296	6497	49931178	SO:0001583	missense	283092	exon1			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.628C>A	11.37:g.49974602C>A	ENSP00000452277:p.Leu210Ile		49931178	NM_001001955	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	0.164	-1.078144	0.01903	.	.	ENSG00000258817	ENST00000555099	T	0.38401	1.14	2.7	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000759	T	0.25082	0.0609	L	0.41573	1.285	0.09310	N	1	B	0.13145	0.007	B	0.21151	0.033	T	0.16988	-1.0384	9	.	.	.	.	7.2289	0.26030	0.4779:0.5221:0.0:0.0	.	210	Q8NGP0	OR4CD_HUMAN	I	210	ENSP00000452277:L210I	.	L	+	1	0	OR4C13	49931178	0.000000	0.05858	0.573000	0.28510	0.136000	0.21042	-1.409000	0.02483	0.445000	0.26639	0.186000	0.17326	CTC		0.493	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955	
OR4C12	283093	broad.mit.edu	37	11	50003563	50003563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:50003563G>T	ENST00000335238.4	-	1	508	c.475C>A	c.(475-477)Ctc>Atc	p.L159I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L159I(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACTGTAAAGAGAATCTGAATA	0.468																																					p.L159I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475A	11						.						131.0	135.0	134.0					11																	50003563		2201	4296	6497	49960139	SO:0001583	missense	283093	exon1			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.475C>A	11.37:g.50003563G>T	ENSP00000334418:p.Leu159Ile		49960139	NM_001005270	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.883045	0.33255	.	.	ENSG00000221954	ENST00000335238	T	0.38722	1.12	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37761	U	0.001941	T	0.34366	0.0895	N	0.21097	0.63	0.23454	N	0.997645	P	0.40000	0.698	P	0.48524	0.58	T	0.09378	-1.0677	10	0.31617	T	0.26	.	8.2721	0.31851	0.0:0.2467:0.7533:0.0	.	159	Q96R67	OR4CC_HUMAN	I	159	ENSP00000334418:L159I	ENSP00000334418:L159I	L	-	1	0	OR4C12	49960139	0.000000	0.05858	0.856000	0.33681	0.722000	0.41435	-0.345000	0.07770	1.698000	0.51180	0.398000	0.26397	CTC		0.468	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR4A5	81318	broad.mit.edu	37	11	51412360	51412360	+	Silent	SNP	G	G	A	rs141556662		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:51412360G>A	ENST00000319760.6	-	1	88	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAAAGCCCAGGAGGACAAATT	0.428																																					p.L12L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	11						.	G		5,4393		0,5,2194	32.0	30.0	31.0		36	-0.0	0.2	11	dbSNP_134	31	0,8588		0,0,4294	no	coding-synonymous	OR4A5	NM_001005272.3		0,5,6488	AA,AG,GG		0.0,0.1137,0.0385		12/316	51412360	5,12981	2199	4294	6493	51268936	SO:0001819	synonymous_variant	81318	exon1			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.36C>T	11.37:g.51412360G>A			51268936	NM_001005272	Q6IF84	Silent	SNP	ENST00000319760.6	37	CCDS31497.1																																																																																				0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR4C15	81309	broad.mit.edu	37	11	55322127	55322127	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55322127C>A	ENST00000314644.2	+	1	345	c.345C>A	c.(343-345)ttC>ttA	p.F115L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F115L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTACTTCTTCTTGGGCTTCC	0.443										HNSCC(20;0.049)																											p.F115L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C345A	11						.						181.0	144.0	156.0					11																	55322127		2201	4296	6497	55078703	SO:0001583	missense	81309	exon1			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.345C>A	11.37:g.55322127C>A	ENSP00000324958:p.Phe115Leu		55078703	NM_001001920	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712413	0.48517	.	.	ENSG00000181939	ENST00000314644	T	0.13778	2.56	5.08	0.318	0.15867	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.33702	0.0872	M	0.76838	2.35	0.19775	N	0.999952	D	0.89917	1.0	D	0.87578	0.998	T	0.07947	-1.0746	9	0.72032	D	0.01	.	8.2242	0.31560	0.0:0.4542:0.0:0.5458	.	61	Q8NGM1	OR4CF_HUMAN	L	115	ENSP00000324958:F115L	ENSP00000324958:F115L	F	+	3	2	OR4C15	55078703	0.794000	0.28838	0.140000	0.22221	0.605000	0.37080	0.352000	0.20113	0.010000	0.14839	0.379000	0.24179	TTC		0.443	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR4C15	81309	broad.mit.edu	37	11	55322732	55322732	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55322732C>A	ENST00000314644.2	+	1	950	c.950C>A	c.(949-951)gCt>gAt	p.A317D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A317D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CCTCCATCTGCTTTTTCCCTT	0.408										HNSCC(20;0.049)																											p.A317D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950A	11						.						215.0	213.0	214.0					11																	55322732		2201	4296	6497	55079308	SO:0001583	missense	81309	exon1			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.950C>A	11.37:g.55322732C>A	ENSP00000324958:p.Ala317Asp		55079308	NM_001001920	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.281019	0.40394	.	.	ENSG00000181939	ENST00000314644	T	0.37584	1.19	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38639	0.1048	N	0.16166	0.38	0.09310	N	1	P	0.49783	0.928	P	0.55260	0.772	T	0.34502	-0.9826	9	0.72032	D	0.01	.	15.6476	0.77068	0.0:1.0:0.0:0.0	.	263	Q8NGM1	OR4CF_HUMAN	D	317	ENSP00000324958:A317D	ENSP00000324958:A317D	A	+	2	0	OR4C15	55079308	0.000000	0.05858	0.166000	0.22797	0.224000	0.24922	-0.298000	0.08265	2.561000	0.86390	0.385000	0.25706	GCT		0.408	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR4C15	81309	broad.mit.edu	37	11	55322892	55322892	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55322892T>G	ENST00000314644.2	+	1	1110	c.1110T>G	c.(1108-1110)ctT>ctG	p.L370L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L370L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATATTAAACTTTAAAAAATCC	0.308										HNSCC(20;0.049)																											p.L370L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1110G	11						.						19.0	19.0	19.0					11																	55322892		2151	4261	6412	55079468	SO:0001819	synonymous_variant	81309	exon1			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1110T>G	11.37:g.55322892T>G			55079468	NM_001001920	Q6IFE2	Silent	SNP	ENST00000314644.2	37	CCDS31501.1																																																																																				0.308	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR4C6	219432	broad.mit.edu	37	11	55433491	55433491	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55433491G>T	ENST00000314259.3	+	1	878	c.849G>T	c.(847-849)ttG>ttT	p.L283F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L283F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAAATCCCTTGATCTATACAC	0.458																																					p.L283F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G849T	11						.						87.0	86.0	87.0					11																	55433491		2200	4296	6496	55190067	SO:0001583	missense	219432	exon1			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.849G>T	11.37:g.55433491G>T	ENSP00000324769:p.Leu283Phe		55190067	NM_001004704	B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613156	0.28712	.	.	ENSG00000181903	ENST00000314259	T	0.38887	1.11	4.0	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31199	N	0.008063	T	0.35711	0.0941	L	0.60455	1.87	0.24623	N	0.993662	B	0.21309	0.054	B	0.27170	0.077	T	0.33777	-0.9855	10	0.54805	T	0.06	.	4.9123	0.13829	0.1964:0.3374:0.4662:0.0	.	283	Q8NH72	OR4C6_HUMAN	F	283	ENSP00000324769:L283F	ENSP00000324769:L283F	L	+	3	2	OR4C6	55190067	0.000000	0.05858	0.971000	0.41717	0.810000	0.45777	-3.820000	0.00358	0.190000	0.20209	0.530000	0.56133	TTG		0.458	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704	
OR5D13	390142	broad.mit.edu	37	11	55541691	55541691	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55541691C>A	ENST00000361760.1	+	1	778	c.778C>A	c.(778-780)Ctt>Att	p.L260I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L260I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATCCTTTTCCTTTACTGTGT	0.453																																					p.L260I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778A	11						.						123.0	100.0	108.0					11																	55541691		2200	4296	6496	55298267	SO:0001583	missense	390142	exon1			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.778C>A	11.37:g.55541691C>A	ENSP00000354800:p.Leu260Ile		55298267	NM_001001967	Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	4.462	0.085504	0.08583	.	.	ENSG00000198877	ENST00000361760	T	0.00115	8.71	3.82	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.285343	0.18785	N	0.131239	T	0.00210	0.0006	L	0.33137	0.985	0.09310	N	1	P	0.40681	0.727	P	0.57324	0.818	T	0.44452	-0.9327	10	0.45353	T	0.12	-11.7571	6.4132	0.21702	0.4932:0.3554:0.1514:0.0	.	260	Q8NGL4	OR5DD_HUMAN	I	260	ENSP00000354800:L260I	ENSP00000354800:L260I	L	+	1	0	OR5D13	55298267	0.000000	0.05858	0.009000	0.14445	0.219000	0.24729	-0.316000	0.08071	0.677000	0.31305	0.486000	0.48141	CTT		0.453	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5L1	219437	broad.mit.edu	37	11	55579153	55579153	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55579153T>G	ENST00000333973.2	+	1	300	c.211T>G	c.(211-213)Ttc>Gtc	p.F71V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F71V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCTGTAGATTTCTGCTACTC	0.458																																					p.F71V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T211G	11						.						249.0	227.0	235.0					11																	55579153		2200	4296	6496	55335729	SO:0001583	missense	219437	exon1			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.211T>G	11.37:g.55579153T>G	ENSP00000335529:p.Phe71Val		55335729	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	6.564	0.472408	0.12461	.	.	ENSG00000186117	ENST00000333973	T	0.02606	4.23	4.32	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.123623	0.37261	N	0.002172	T	0.02193	0.0068	N	0.26130	0.795	0.09310	N	0.999999	B	0.26975	0.165	B	0.29176	0.099	T	0.45249	-0.9274	10	0.33940	T	0.23	-44.2963	5.3665	0.16117	0.0:0.1074:0.377:0.5156	.	71	Q8NGL2	OR5L1_HUMAN	V	71	ENSP00000335529:F71V	ENSP00000335529:F71V	F	+	1	0	OR5L1	55335729	0.000000	0.05858	0.191000	0.23289	0.235000	0.25334	-2.460000	0.00999	0.546000	0.28920	0.358000	0.22013	TTC		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR5L1	219437	broad.mit.edu	37	11	55579581	55579581	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55579581C>T	ENST00000333973.2	+	1	728	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I213I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCATGATCATCCTCACCT	0.502																																					p.I213I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	11						.						243.0	194.0	211.0					11																	55579581		2200	4296	6496	55336157	SO:0001819	synonymous_variant	219437	exon1			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.639C>T	11.37:g.55579581C>T			55336157	NM_001004738	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																				0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR5L1	219437	broad.mit.edu	37	11	55579726	55579726	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55579726C>T	ENST00000333973.2	+	1	873	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P262S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTATTGCAGGCCCAGTTCAGG	0.507																																					p.P262S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784T	11						.						112.0	96.0	101.0					11																	55579726		2200	4296	6496	55336302	SO:0001583	missense	219437	exon1			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.784C>T	11.37:g.55579726C>T	ENSP00000335529:p.Pro262Ser		55336302	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.321834	0.41096	.	.	ENSG00000186117	ENST00000333973	T	0.00262	8.4	4.12	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.124690	0.37012	N	0.002285	T	0.00241	0.0007	L	0.50333	1.59	0.23602	N	0.997313	B	0.28082	0.2	B	0.37780	0.258	T	0.23332	-1.0191	10	0.72032	D	0.01	-31.8335	11.0165	0.47691	0.0:0.9045:0.0:0.0955	.	262	Q8NGL2	OR5L1_HUMAN	S	262	ENSP00000335529:P262S	ENSP00000335529:P262S	P	+	1	0	OR5L1	55336302	0.007000	0.16637	0.008000	0.14137	0.108000	0.19459	2.322000	0.43814	0.714000	0.32081	0.428000	0.28381	CCC		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR5D18	219438	broad.mit.edu	37	11	55587651	55587651	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55587651C>A	ENST00000333976.4	+	1	566	c.546C>A	c.(544-546)ttC>ttA	p.F182L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F182L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTGTGAGTTCTCCTCACTAC	0.428																																					p.F182L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C546A	11						.						222.0	201.0	208.0					11																	55587651		2200	4296	6496	55344227	SO:0001583	missense	219438	exon1			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.546C>A	11.37:g.55587651C>A	ENSP00000335025:p.Phe182Leu		55344227	NM_001001952	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.389435	0.00200	.	.	ENSG00000186119	ENST00000333976	T	0.35605	1.3	4.85	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.371554	0.20025	N	0.100833	T	0.08358	0.0208	N	0.01128	-1	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.30504	-0.9976	10	0.06625	T	0.88	-17.1055	2.0126	0.03491	0.1722:0.4769:0.1692:0.1816	.	182	Q8NGL1	OR5DI_HUMAN	L	182	ENSP00000335025:F182L	ENSP00000335025:F182L	F	+	3	2	OR5D18	55344227	0.000000	0.05858	0.644000	0.29465	0.082000	0.17680	-2.938000	0.00684	0.585000	0.29608	-1.932000	0.00510	TTC		0.428	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
OR5L2	26338	broad.mit.edu	37	11	55595161	55595161	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55595161C>A	ENST00000378397.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156Y(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACGGTGTGTTCTCTGATTCAC	0.488										HNSCC(27;0.073)																											p.S156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467A	11						.						220.0	189.0	200.0					11																	55595161		2200	4296	6496	55351737	SO:0001583	missense	26338	exon1			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.467C>A	11.37:g.55595161C>A	ENSP00000367650:p.Ser156Tyr		55351737	NM_001004739	Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.020326	0.35606	.	.	ENSG00000205030	ENST00000378397	T	0.45668	0.89	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.67505	0.2900	M	0.88377	2.95	0.21579	N	0.99964	D	0.89917	1.0	D	0.80764	0.994	T	0.64179	-0.6468	10	0.87932	D	0	-36.82	11.3343	0.49494	0.0:0.9155:0.0:0.0845	.	156	Q8NGL0	OR5L2_HUMAN	Y	156	ENSP00000367650:S156Y	ENSP00000367650:S156Y	S	+	2	0	OR5L2	55351737	0.003000	0.15002	0.925000	0.36789	0.057000	0.15508	1.637000	0.37155	2.613000	0.88420	0.626000	0.83405	TCT		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739	
TRIM51	84767	broad.mit.edu	37	11	55658984	55658984	+	Missense_Mutation	SNP	T	T	C	rs138269041		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55658984T>C	ENST00000449290.2	+	7	1327	c.1235T>C	c.(1234-1236)tTc>tCc	p.F412S	TRIM51_ENST00000244891.3_Missense_Mutation_p.F269S	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	412	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F253S(1)|p.F412S(1)									GTAGGATTATTCCTGGATTGT	0.473																																					p.F412S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1235C	11						.						74.0	70.0	71.0					11																	55658984		2174	4221	6395	55415560	SO:0001583	missense	84767	exon7			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1235T>C	11.37:g.55658984T>C	ENSP00000395086:p.Phe412Ser		55415560	NM_032681	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	14.79	2.640770	0.47153	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.65178	-0.14;-0.14	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80507	0.4636	M	0.93808	3.46	0.26691	N	0.971346	D	0.89917	1.0	D	0.91635	0.999	T	0.66874	-0.5813	9	0.87932	D	0	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	412	Q9BSJ1	SPRY5_HUMAN	S	412;269	ENSP00000395086:F412S;ENSP00000244891:F269S	ENSP00000244891:F269S	F	+	2	0	SPRYD5	55415560	0.990000	0.36364	0.015000	0.15790	0.171000	0.22731	-0.102000	0.10956	0.540000	0.28808	0.136000	0.15936	TTC		0.473	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
OR5W2	390148	broad.mit.edu	37	11	55681565	55681565	+	Missense_Mutation	SNP	C	C	T	rs148084259		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55681565C>T	ENST00000344514.1	-	1	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165H(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAGCATAGGCGGAAGGCCAG	0.428																																					p.R165H	Melanoma(48;171 1190 15239 43886 49348)											.	.	4	Substitution - Missense(4)	cervix(1)|large_intestine(1)|stomach(1)|kidney(1)	c.G494A	11						.	C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	77.0	80.0		494	1.5	0.0	11	dbSNP_134	80	0,8592		0,0,4296	yes	missense	OR5W2	NM_001001960.1	29	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	benign	165/311	55681565	2,12992	2201	4296	6497	55438141	SO:0001583	missense	390148	exon1			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.494G>A	11.37:g.55681565C>T	ENSP00000342448:p.Arg165His		55438141	NM_001001960		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190656	0.06299	4.54E-4	0.0	ENSG00000187612	ENST00000344514	T	0.00169	8.63	4.77	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.602095	0.13398	N	0.390838	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.18085	-1.0348	10	0.41790	T	0.15	.	5.688	0.17813	0.0:0.5609:0.1582:0.2809	.	165	Q8NH69	OR5W2_HUMAN	H	165	ENSP00000342448:R165H	ENSP00000342448:R165H	R	-	2	0	OR5W2	55438141	0.000000	0.05858	0.019000	0.16419	0.048000	0.14542	-3.276000	0.00530	0.435000	0.26365	0.549000	0.68633	CGC		0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR5I1	10798	broad.mit.edu	37	11	55703223	55703223	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55703223G>T	ENST00000301532.3	-	1	653	c.654C>A	c.(652-654)atC>atA	p.I218I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	218					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I218I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAAGTAGGAGATGATGATGA	0.438																																					p.I218I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654A	11						.						46.0	49.0	48.0					11																	55703223		2200	4295	6495	55459799	SO:0001819	synonymous_variant	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.654C>A	11.37:g.55703223G>T			55459799	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																				0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR5F1	338674	broad.mit.edu	37	11	55761584	55761584	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55761584A>G	ENST00000278409.1	-	1	517	c.518T>C	c.(517-519)gTc>gCc	p.V173A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V173A(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGATGACATTGGAGTC	0.458																																					p.V173A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T518C	11						.						88.0	83.0	85.0					11																	55761584		2201	4296	6497	55518160	SO:0001583	missense	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.518T>C	11.37:g.55761584A>G	ENSP00000278409:p.Val173Ala		55518160	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.823083	0.32237	.	.	ENSG00000149133	ENST00000278409	T	0.00169	8.63	3.03	-1.58	0.08479	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.59912	1.85	0.09310	N	1	P	0.38300	0.626	B	0.43508	0.422	T	0.25813	-1.0121	9	0.52906	T	0.07	.	0.6583	0.00838	0.4076:0.1601:0.1164:0.3158	.	173	O95221	OR5F1_HUMAN	A	173	ENSP00000278409:V173A	ENSP00000278409:V173A	V	-	2	0	OR5F1	55518160	0.000000	0.05858	0.033000	0.17914	0.694000	0.40290	-0.290000	0.08354	0.181000	0.19994	0.247000	0.18012	GTC		0.458	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5F1	338674	broad.mit.edu	37	11	55761802	55761802	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55761802C>A	ENST00000278409.1	-	1	299	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	100					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100H(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGAAGTACATCTGTAGGAAGC	0.468																																					p.Q100H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	11						.						86.0	83.0	84.0					11																	55761802		2201	4296	6497	55518378	SO:0001583	missense	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.300G>T	11.37:g.55761802C>A	ENSP00000278409:p.Gln100His		55518378	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228898	0.39399	.	.	ENSG00000149133	ENST00000278409	T	0.02121	4.44	3.03	-1.52	0.08637	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16171	0.0389	H	0.96365	3.81	0.21527	N	0.999659	D	0.89917	1.0	D	0.87578	0.998	T	0.01460	-1.1349	9	0.87932	D	0	.	8.0412	0.30523	0.0:0.5682:0.0:0.4318	.	100	O95221	OR5F1_HUMAN	H	100	ENSP00000278409:Q100H	ENSP00000278409:Q100H	Q	-	3	2	OR5F1	55518378	0.000000	0.05858	0.755000	0.31263	0.811000	0.45836	-1.304000	0.02741	-0.309000	0.08779	0.297000	0.19635	CAG		0.468	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5AS1	219447	broad.mit.edu	37	11	55798272	55798272	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55798272C>A	ENST00000313555.1	+	1	378	c.378C>A	c.(376-378)atC>atA	p.I126I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I126I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATGCAGCCATCTGCAACCCAC	0.463																																					p.I126I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378A	11						.						146.0	118.0	128.0					11																	55798272		2201	4296	6497	55554848	SO:0001819	synonymous_variant	219447	exon1			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.378C>A	11.37:g.55798272C>A			55554848	NM_001001921	Q6IFB8	Silent	SNP	ENST00000313555.1	37	CCDS31516.1																																																																																				0.463	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
OR8H3	390152	broad.mit.edu	37	11	55890405	55890405	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55890405C>A	ENST00000313472.3	+	1	557	c.557C>A	c.(556-558)gCt>gAt	p.A186D		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A186D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CCAATTTTAGCTCTGTCCTGC	0.413																																					p.A186D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557A	11						.						236.0	216.0	223.0					11																	55890405		2201	4296	6497	55646981	SO:0001583	missense	390152	exon1			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.557C>A	11.37:g.55890405C>A	ENSP00000323928:p.Ala186Asp		55646981	NM_001005201	Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021530	0.35701	.	.	ENSG00000181761	ENST00000313472	T	0.00115	8.71	3.62	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.387872	0.22363	N	0.061043	T	0.00241	0.0007	L	0.59436	1.845	0.09310	N	1	P	0.50528	0.936	P	0.58266	0.836	T	0.46414	-0.9193	10	0.46703	T	0.11	.	4.6704	0.12685	0.3534:0.4599:0.0:0.1867	.	186	Q8N146	OR8H3_HUMAN	D	186	ENSP00000323928:A186D	ENSP00000323928:A186D	A	+	2	0	OR8H3	55646981	0.000000	0.05858	0.946000	0.38457	0.447000	0.32167	-0.946000	0.03905	0.600000	0.29862	0.173000	0.16961	GCT		0.413	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201	
OR5J2	282775	broad.mit.edu	37	11	55944804	55944804	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:55944804C>A	ENST00000312298.1	+	1	711	c.711C>A	c.(709-711)gcC>gcA	p.A237A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GACAGCAAGCCTTCTCCACCT	0.468																																					p.A237A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711A	11						.						142.0	122.0	129.0					11																	55944804		2201	4296	6497	55701380	SO:0001819	synonymous_variant	282775	exon1			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.711C>A	11.37:g.55944804C>A			55701380	NM_001005492	Q6IEU5	Silent	SNP	ENST00000312298.1	37	CCDS31522.1																																																																																				0.468	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492	
OR5T3	390154	broad.mit.edu	37	11	56019969	56019969	+	Missense_Mutation	SNP	C	C	A	rs573806981		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56019969C>A	ENST00000303059.3	+	1	294	c.294C>A	c.(292-294)ttC>ttA	p.F98L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F98L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTTATCATTCTTGGATGCTT	0.383																																					p.F98L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C294A	11						.						100.0	100.0	100.0					11																	56019969		2201	4296	6497	55776545	SO:0001583	missense	390154	exon1			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.294C>A	11.37:g.56019969C>A	ENSP00000305403:p.Phe98Leu		55776545	NM_001004747	Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	c	5.301	0.240902	0.10077	.	.	ENSG00000172489	ENST00000303059	T	0.00966	5.49	4.55	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.433220	0.17255	U	0.180992	T	0.00815	0.0027	L	0.45137	1.4	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.48080	-0.9066	10	0.13470	T	0.59	.	6.244	0.20807	0.0:0.3758:0.2183:0.4059	.	98	Q8NGG3	OR5T3_HUMAN	L	98	ENSP00000305403:F98L	ENSP00000305403:F98L	F	+	3	2	OR5T3	55776545	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-4.264000	0.00263	-0.408000	0.07565	0.643000	0.83706	TTC		0.383	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
OR5T3	390154	broad.mit.edu	37	11	56020105	56020105	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56020105C>A	ENST00000303059.3	+	1	430	c.430C>A	c.(430-432)Ctc>Atc	p.L144I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGAATGTTTTCTCTTGGCTGC	0.403																																					p.L144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430A	11						.						197.0	188.0	191.0					11																	56020105		2201	4295	6496	55776681	SO:0001583	missense	390154	exon1			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.430C>A	11.37:g.56020105C>A	ENSP00000305403:p.Leu144Ile		55776681	NM_001004747	Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428389	0.25726	.	.	ENSG00000172489	ENST00000303059	T	0.03496	3.91	4.55	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000853	T	0.05090	0.0136	L	0.53780	1.695	0.09310	N	1	B	0.24132	0.098	B	0.34138	0.176	T	0.28744	-1.0034	10	0.59425	D	0.04	.	5.683	0.17786	0.2696:0.5658:0.0:0.1646	.	144	Q8NGG3	OR5T3_HUMAN	I	144	ENSP00000305403:L144I	ENSP00000305403:L144I	L	+	1	0	OR5T3	55776681	0.000000	0.05858	0.524000	0.27887	0.344000	0.29017	-3.007000	0.00649	0.566000	0.29273	0.643000	0.83706	CTC		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
OR8H1	219469	broad.mit.edu	37	11	56057622	56057622	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56057622C>A	ENST00000313022.2	-	1	944	c.917G>T	c.(916-918)aGa>aTa	p.R306I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R306I(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCCTGTCTTCTCTGCATGAC	0.338																																					p.R306I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917T	11						.						87.0	99.0	95.0					11																	56057622		2201	4295	6496	55814198	SO:0001583	missense	219469	exon1			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.917G>T	11.37:g.56057622C>A	ENSP00000323595:p.Arg306Ile		55814198	NM_001005199	B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	9.349	1.065025	0.20067	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.39229	1.09	3.45	1.0	0.19881	.	0.401911	0.21353	N	0.075935	T	0.39655	0.1086	M	0.77712	2.385	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.42103	-0.9471	10	0.72032	D	0.01	.	5.4074	0.16328	0.0:0.2713:0.0:0.7287	.	306	Q8NGG4	OR8H1_HUMAN	I	306;302	ENSP00000323595:R306I	ENSP00000323595:R306I	R	-	2	0	OR8H1	55814198	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.565000	0.05929	0.056000	0.16144	-0.410000	0.06199	AGA		0.338	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR8J1	219477	broad.mit.edu	37	11	56128214	56128214	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56128214C>A	ENST00000303039.3	+	1	524	c.492C>A	c.(490-492)ttC>ttA	p.F164L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F164L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTTATGTATTCTCTGTGTCTT	0.408																																					p.F164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C492A	11						.						114.0	104.0	107.0					11																	56128214		2201	4296	6497	55884790	SO:0001583	missense	219477	exon1			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.492C>A	11.37:g.56128214C>A	ENSP00000304060:p.Phe164Leu		55884790	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170994	0.21621	.	.	ENSG00000172487	ENST00000303039	T	0.00145	8.67	3.91	-0.338	0.12651	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00271	0.0008	L	0.51914	1.62	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52403	-0.8580	10	0.29301	T	0.29	.	10.7095	0.45975	0.0:0.6482:0.0:0.3518	.	164	Q8NGP2	OR8J1_HUMAN	L	164	ENSP00000304060:F164L	ENSP00000304060:F164L	F	+	3	2	OR8J1	55884790	0.000000	0.05858	0.995000	0.50966	0.061000	0.15899	-1.656000	0.01980	0.063000	0.16370	-1.197000	0.01672	TTC		0.408	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205	
OR8J1	219477	broad.mit.edu	37	11	56128426	56128426	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56128426A>C	ENST00000303039.3	+	1	736	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GAAGGAAGGAAAAAAGCCTTT	0.353																																					p.K235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704C	11						.						113.0	107.0	109.0					11																	56128426		2201	4296	6497	55885002	SO:0001583	missense	219477	exon1			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.704A>C	11.37:g.56128426A>C	ENSP00000304060:p.Lys235Thr		55885002	NM_001005205	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463727	0.26335	.	.	ENSG00000172487	ENST00000303039	T	0.00130	8.69	3.9	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.383998	0.25106	N	0.033088	T	0.00178	0.0005	L	0.54908	1.71	0.09310	N	0.999998	P	0.38863	0.65	P	0.45913	0.497	T	0.22765	-1.0207	10	0.40728	T	0.16	.	3.3582	0.07177	0.6468:0.0:0.1589:0.1944	.	235	Q8NGP2	OR8J1_HUMAN	T	235	ENSP00000304060:K235T	ENSP00000304060:K235T	K	+	2	0	OR8J1	55885002	0.000000	0.05858	0.994000	0.49952	0.606000	0.37113	-0.269000	0.08596	0.632000	0.30432	0.443000	0.29094	AAA		0.353	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205	
OR8U1	219417	broad.mit.edu	37	11	56143555	56143555	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56143555C>T	ENST00000302270.1	+	1	456	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S152S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATAGCTATAGCTTCCTAATGG	0.433																																					p.S152S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	11						.						140.0	141.0	140.0					11																	56143555		2098	4234	6332	55900131	SO:0001819	synonymous_variant	0	exon1			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.456C>T	11.37:g.56143555C>T			55900131	NM_001005204		IGR	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				0.433	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
OR5M9	390162	broad.mit.edu	37	11	56230655	56230655	+	Missense_Mutation	SNP	C	C	T	rs367845258		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56230655C>T	ENST00000279791.1	-	1	222	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V75I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTGGGGGTAACGTTGGAGGAG	0.438													c|||	1	0.000199681	0.0	0.0	5008	,	,		21609	0.0		0.0	False		,,,				2504	0.001				p.V75I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223A	11						.	C	ILE/VAL	0,4402		0,0,2201	85.0	87.0	87.0		223	1.9	0.1	11		87	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5M9	NM_001004743.1	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	75/311	56230655	1,12993	2201	4296	6497	55987231	SO:0001583	missense	390162	exon1			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.223G>A	11.37:g.56230655C>T	ENSP00000279791:p.Val75Ile		55987231	NM_001004743	Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	4.132	0.022778	0.08006	0.0	1.16E-4	ENSG00000150269	ENST00000279791	T	0.01406	4.93	4.85	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.172757	0.27518	N	0.019017	T	0.00784	0.0026	N	0.10837	0.055	0.09310	N	1	B	0.32101	0.356	B	0.29785	0.107	T	0.48614	-0.9020	10	0.08179	T	0.78	-18.8969	7.3237	0.26542	0.0:0.6235:0.0:0.3765	.	75	Q8NGP3	OR5M9_HUMAN	I	75	ENSP00000279791:V75I	ENSP00000279791:V75I	V	-	1	0	OR5M9	55987231	0.000000	0.05858	0.076000	0.20297	0.837000	0.47467	0.439000	0.21575	0.566000	0.29273	0.549000	0.68633	GTT		0.438	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
OR5M3	219482	broad.mit.edu	37	11	56237674	56237674	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56237674G>T	ENST00000312240.2	-	1	340	c.300C>A	c.(298-300)ttC>ttA	p.F100L		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F100L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CAATGAAGAAGAAACACTGTA	0.363																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C300A	11						.						88.0	84.0	85.0					11																	56237674		2201	4295	6496	55994250	SO:0001583	missense	219482	exon1			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.300C>A	11.37:g.56237674G>T	ENSP00000312208:p.Phe100Leu		55994250	NM_001004742	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527260	0.27299	.	.	ENSG00000174937	ENST00000312240	T	0.00448	7.38	5.13	-4.52	0.03472	GPCR, rhodopsin-like superfamily (1);	0.138136	0.33457	N	0.004892	T	0.00271	0.0008	L	0.39566	1.225	0.09310	N	0.999996	B	0.29571	0.249	B	0.32677	0.15	T	0.44097	-0.9350	10	0.37606	T	0.19	-18.3376	8.9423	0.35738	0.6127:0.1079:0.2794:0.0	.	100	Q8NGP4	OR5M3_HUMAN	L	100	ENSP00000312208:F100L	ENSP00000312208:F100L	F	-	3	2	OR5M3	55994250	0.000000	0.05858	0.838000	0.33150	0.927000	0.56198	-0.832000	0.04400	-0.804000	0.04410	0.478000	0.44815	TTC		0.363	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
OR5M8	219484	broad.mit.edu	37	11	56258164	56258164	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56258164C>T	ENST00000327216.2	-	1	707	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R228H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTCTGTAGAGCGAATCTTTAA	0.408																																					p.R228H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	11						.						40.0	43.0	42.0					11																	56258164		2201	4296	6497	56014740	SO:0001583	missense	219484	exon1			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.683G>A	11.37:g.56258164C>T	ENSP00000323354:p.Arg228His		56014740	NM_001005282	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	0.231	-1.021371	0.02061	.	.	ENSG00000181371	ENST00000327216	T	0.39229	1.09	4.35	-3.88	0.04205	GPCR, rhodopsin-like superfamily (1);	0.560040	0.14923	N	0.290544	T	0.22205	0.0535	L	0.35793	1.09	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.30563	-0.9974	10	0.11182	T	0.66	-0.053	4.7083	0.12860	0.2608:0.231:0.0:0.5082	.	228	Q8NGP6	OR5M8_HUMAN	H	228	ENSP00000323354:R228H	ENSP00000323354:R228H	R	-	2	0	OR5M8	56014740	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.341000	0.01100	-0.810000	0.04375	-0.211000	0.12701	CGC		0.408	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
OR5M10	390167	broad.mit.edu	37	11	56344667	56344667	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56344667G>T	ENST00000526812.2	-	1	596	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CAGCGCAGTAGAAATGATTGA	0.473																																					p.F177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C531A	11						.						88.0	86.0	87.0					11																	56344667		1953	4131	6084	56101243	SO:0001583	missense	390167	exon1			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.531C>A	11.37:g.56344667G>T	ENSP00000436004:p.Phe177Leu		56101243	NM_001004741	B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540404	0.45176	.	.	ENSG00000254834	ENST00000526812	T	0.00137	8.68	4.04	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.88377	2.95	0.30633	N	0.757273	D	0.89917	1.0	D	0.97110	1.0	T	0.25152	-1.0140	9	0.72032	D	0.01	.	8.1009	0.30857	0.2259:0.0:0.7741:0.0	.	177	Q6IEU7	OR5MA_HUMAN	L	177	ENSP00000436004:F177L	ENSP00000436004:F177L	F	-	3	2	OR5M10	56101243	0.989000	0.36119	0.995000	0.50966	0.244000	0.25665	0.928000	0.28831	0.364000	0.24374	0.632000	0.83419	TTC		0.473	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
OR5M1	390168	broad.mit.edu	37	11	56380921	56380921	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:56380921C>T	ENST00000526538.1	-	1	57	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D20N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGCACTGGGTCGTCTGTCAGT	0.458																																					p.D20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58A	11						.						170.0	158.0	162.0					11																	56380921		1920	4127	6047	56137497	SO:0001583	missense	390168	exon1			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.58G>A	11.37:g.56380921C>T	ENSP00000435416:p.Asp20Asn		56137497	NM_001004740	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	7.229	0.598893	0.13939	.	.	ENSG00000255012	ENST00000526538	T	0.01084	5.36	3.71	-3.9	0.04181	.	1.024230	0.07826	N	0.960527	T	0.00875	0.0029	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46803	-0.9165	10	0.21540	T	0.41	-5.7979	6.4189	0.21732	0.0:0.23:0.148:0.622	.	20	Q8NGP8	OR5M1_HUMAN	N	20	ENSP00000435416:D20N	ENSP00000435416:D20N	D	-	1	0	OR5M1	56137497	0.000000	0.05858	0.001000	0.08648	0.661000	0.39034	-2.385000	0.01062	-0.534000	0.06315	0.280000	0.19369	GAC		0.458	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
TNKS1BP1	85456	broad.mit.edu	37	11	57077719	57077719	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57077719G>A	ENST00000532437.1	-	5	2777	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Silent_p.D822D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	822	Acidic.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.D822D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAACTACCCGGTCCTGGGCTG	0.612																																					p.D822D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2466T	11						.						106.0	111.0	109.0					11																	57077719		2201	4296	6497	56834295	SO:0001819	synonymous_variant	85456	exon6			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2466C>T	11.37:g.57077719G>A			56834295	NM_033396	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																				0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396	
SSRP1	6749	broad.mit.edu	37	11	57094285	57094285	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57094285C>A	ENST00000278412.2	-	16	2216	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	650	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K650N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TTGAGGACGACTTGGATGATG	0.463																																					p.K650N	Colon(89;1000 1340 6884 23013 41819)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1950T	11						.						169.0	144.0	152.0					11																	57094285		2201	4296	6497	56850861	SO:0001583	missense	6749	exon16			M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1950G>T	11.37:g.57094285C>A	ENSP00000278412:p.Lys650Asn		56850861	NM_003146	Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238538	0.22711	.	.	ENSG00000149136	ENST00000278412	D	0.93247	-3.19	5.06	4.14	0.48551	.	0.192855	0.44902	D	0.000406	D	0.85687	0.5754	N	0.08118	0	0.44175	D	0.996988	P	0.41978	0.767	B	0.43445	0.42	D	0.84277	0.0492	10	0.40728	T	0.16	.	9.3284	0.38008	0.0:0.8352:0.0:0.1648	.	650	Q08945	SSRP1_HUMAN	N	650	ENSP00000278412:K650N	ENSP00000278412:K650N	K	-	3	2	SSRP1	56850861	1.000000	0.71417	0.975000	0.42487	0.407000	0.30961	2.369000	0.44231	1.133000	0.42147	0.462000	0.41574	AAG		0.463	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146	
PRG3	10394	broad.mit.edu	37	11	57147240	57147240	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57147240T>G	ENST00000287143.2	-	3	211	c.102A>C	c.(100-102)gcA>gcC	p.A34A		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.A34A(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCTAGGTCTGCCTGTGTCT	0.557																																					p.A34A	Melanoma(154;1456 2519 19358 45229)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A102C	11						.						78.0	73.0	75.0					11																	57147240		2201	4296	6497	56903816	SO:0001819	synonymous_variant	10394	exon3			AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.102A>C	11.37:g.57147240T>G			56903816	NM_006093	Q5VX23|Q9NXE2	Silent	SNP	ENST00000287143.2	37	CCDS7954.1																																																																																				0.557	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093	
PRG2	5553	broad.mit.edu	37	11	57156692	57156692	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57156692C>T	ENST00000311862.5	-	3	230	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PRG2_ENST00000533605.1_Missense_Mutation_p.E53K|PRG2_ENST00000525955.1_Missense_Mutation_p.E53K|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.E158K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	53					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.E53K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	TCCTCCAGCTCCCTGCAAGGG	0.547																																					p.E53K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	11						.						89.0	90.0	90.0					11																	57156692		2201	4296	6497	56913268	SO:0001583	missense	5553	exon3			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.157G>A	11.37:g.57156692C>T	ENSP00000312134:p.Glu53Lys		56913268	NM_002728	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021457	0.54576	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.43688	2.94;2.63;2.94;0.94	5.41	2.52	0.30459	.	0.328449	0.21115	U	0.079906	T	0.31979	0.0814	L	0.50333	1.59	0.09310	N	1	B;B	0.30584	0.158;0.286	B;B	0.27887	0.062;0.084	T	0.21621	-1.0240	10	0.51188	T	0.08	-16.0453	5.6709	0.17721	0.0:0.6627:0.161:0.1763	.	53;53	A6XMW0;P13727	.;PRG2_HUMAN	K	53;53;53;158	ENSP00000312134:E53K;ENSP00000433231:E53K;ENSP00000433016:E53K;ENSP00000431536:E158K	ENSP00000312134:E53K	E	-	1	0	RP11-872D17.8;PRG2	56913268	0.008000	0.16893	0.000000	0.03702	0.045000	0.14185	0.619000	0.24388	0.256000	0.21614	0.609000	0.83330	GAG		0.547	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
SERPING1	710	broad.mit.edu	37	11	57367425	57367425	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57367425A>G	ENST00000278407.4	+	3	352	c.125A>G	c.(124-126)gAa>gGa	p.E42G	SERPING1_ENST00000378323.4_Missense_Mutation_p.E47G|SERPING1_ENST00000378324.2_5'UTR|SERPING1_ENST00000340687.6_Missense_Mutation_p.E42G|SERPING1_ENST00000403558.1_Missense_Mutation_p.E76G	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	42					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E42G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GACAGAGGCGAAGGGAAGGTC	0.488																																					p.E42G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A125G	11						.						165.0	160.0	162.0					11																	57367425		2201	4296	6497	57124001	SO:0001583	missense	710	exon3			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.125A>G	11.37:g.57367425A>G	ENSP00000278407:p.Glu42Gly		57124001	NM_000062	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099175	0.37048	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000457869;ENST00000340687;ENST00000378323;ENST00000403558;ENST00000433668	D;D;T;D;D;D	0.90385	-2.66;-1.98;-1.48;-2.04;-1.99;-2.08	4.85	1.19	0.21007	.	1.226530	0.05647	N	0.584429	D	0.85362	0.5679	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.69587	-0.5105	10	0.66056	D	0.02	.	0.8222	0.01113	0.4952:0.1665:0.1771:0.1612	.	47;76;42;42	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	G	42;42;76;42;47;76;42	ENSP00000384561:E42G;ENSP00000278407:E42G;ENSP00000399746:E76G;ENSP00000341861:E42G;ENSP00000367574:E47G;ENSP00000384420:E76G	ENSP00000278407:E42G	E	+	2	0	SERPING1	57124001	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.037000	0.12164	0.098000	0.17522	0.459000	0.35465	GAA		0.488	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
ZDHHC5	25921	broad.mit.edu	37	11	57461380	57461380	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57461380G>T	ENST00000287169.3	+	8	2240	c.878G>T	c.(877-879)aGa>aTa	p.R293I	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R240I	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	293					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R293I(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GAGCTGAGGAGAACAAAGGTG	0.428																																					p.R293I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878T	11						.						76.0	71.0	73.0					11																	57461380		2201	4296	6497	57217956	SO:0001583	missense	25921	exon8			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.878G>T	11.37:g.57461380G>T	ENSP00000287169:p.Arg293Ile		57217956	NM_015457	Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112219	0.77210	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.85411	0.07;1.07;-1.98	5.42	5.42	0.78866	.	0.063062	0.64402	D	0.000016	D	0.87744	0.6254	L	0.49778	1.585	0.80722	D	1	P	0.46457	0.878	P	0.51170	0.661	D	0.88412	0.3022	10	0.72032	D	0.01	-8.0311	18.9933	0.92803	0.0:0.0:1.0:0.0	.	293	Q9C0B5	ZDHC5_HUMAN	I	240;293;127	ENSP00000432202:R240I;ENSP00000287169:R293I;ENSP00000435722:R127I	ENSP00000287169:R293I	R	+	2	0	ZDHHC5	57217956	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.207000	0.89746	2.820000	0.97059	0.650000	0.86243	AGA		0.428	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457	
TMX2	51075	broad.mit.edu	37	11	57506212	57506212	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57506212T>G	ENST00000278422.4	+	5	530	c.518T>G	c.(517-519)tTt>tGt	p.F173C	TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.F135C|C11orf31_ENST00000388857.4_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	173	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.F173C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGCCAATCATTTGCCCCTATC	0.473																																					p.F173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T518G	11						.						189.0	172.0	178.0					11																	57506212		2201	4296	6497	57262788	SO:0001583	missense	51075	exon5			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.518T>G	11.37:g.57506212T>G	ENSP00000278422:p.Phe173Cys		57262788	NM_015959	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416427	0.83449	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T;T	0.03468	3.92;3.92	5.95	5.95	0.96441	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	U	0.000000	T	0.22898	0.0553	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.00950	-1.1503	10	0.72032	D	0.01	-14.3507	16.0852	0.81042	0.0:0.0:0.0:1.0	.	135;173	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	C	135;173	ENSP00000367562:F135C;ENSP00000278422:F173C	ENSP00000278422:F173C	F	+	2	0	TMX2	57262788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.279000	0.76181	0.533000	0.62120	TTT		0.473	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959	
CTNND1	1500	broad.mit.edu	37	11	57569383	57569383	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57569383T>G	ENST00000399050.4	+	7	1671	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	CTNND1_ENST00000532463.1_Missense_Mutation_p.L278V|CTNND1_ENST00000415361.2_Missense_Mutation_p.L278V|CTNND1_ENST00000532245.1_Missense_Mutation_p.L278V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L379V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L56V|CTNND1_ENST00000526772.1_Missense_Mutation_p.L56V|CTNND1_ENST00000529986.1_Missense_Mutation_p.L278V|CTNND1_ENST00000530094.1_Missense_Mutation_p.L278V|CTNND1_ENST00000528621.1_Missense_Mutation_p.L325V|CTNND1_ENST00000529919.1_Missense_Mutation_p.L379V|CTNND1_ENST00000531014.1_Missense_Mutation_p.L56V|CTNND1_ENST00000532649.1_Missense_Mutation_p.L325V|CTNND1_ENST00000532844.1_Missense_Mutation_p.L325V|CTNND1_ENST00000533667.1_Missense_Mutation_p.L56V|CTNND1_ENST00000399039.4_Missense_Mutation_p.L379V|CTNND1_ENST00000360682.6_Missense_Mutation_p.L379V|CTNND1_ENST00000526938.1_Missense_Mutation_p.L379V|CTNND1_ENST00000525902.1_Missense_Mutation_p.L56V|CTNND1_ENST00000524630.1_Missense_Mutation_p.L379V|CTNND1_ENST00000426142.2_Missense_Mutation_p.L278V|CTNND1_ENST00000528232.1_Missense_Mutation_p.L278V|CTNND1_ENST00000358694.6_Missense_Mutation_p.L379V|CTNND1_ENST00000361796.4_Missense_Mutation_p.L379V|CTNND1_ENST00000530748.1_Missense_Mutation_p.L325V|CTNND1_ENST00000534579.1_Missense_Mutation_p.L325V|CTNND1_ENST00000532787.1_Missense_Mutation_p.L278V|CTNND1_ENST00000526357.1_Missense_Mutation_p.L325V|CTNND1_ENST00000361391.6_Missense_Mutation_p.L379V|CTNND1_ENST00000428599.2_Missense_Mutation_p.L379V|CTNND1_ENST00000529873.1_Missense_Mutation_p.L325V|CTNND1_ENST00000529526.1_Missense_Mutation_p.L325V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	379					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.L379V(1)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGATTCCGCTTGGATGCTGT	0.537																																					p.L379V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1135G	11						.						98.0	97.0	97.0					11																	57569383		2051	4214	6265	57325959	SO:0001583	missense	1500	exon7			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1135T>G	11.37:g.57569383T>G	ENSP00000382004:p.Leu379Val		57325959	NM_001331	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.179708	0.38511	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.85;0.85;0.85;0.71;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.58	-7.96	0.01144	Armadillo-like helical (1);Armadillo-type fold (1);	0.069969	0.56097	D	0.000023	T	0.51109	0.1655	L	0.31752	0.955	0.31175	N	0.702734	D;D;D;D;D;D;P;D;D	0.71674	0.998;0.998;0.997;0.998;0.998;0.998;0.537;0.998;0.997	D;D;D;D;D;D;B;D;D	0.83275	0.996;0.996;0.991;0.996;0.996;0.996;0.219;0.996;0.991	T	0.60424	-0.7266	10	0.21014	T	0.42	-4.7807	22.8404	0.99976	0.0:0.813:0.0:0.187	.	379;379;379;278;325;325;379;379;379	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	V	379;379;379;56;379;379;325;278;379;379;379;278;278;379;278;56;325;325;325;379;56;278;56;56;325;56;325;325;278;278;278;325;379	ENSP00000436543:L379V;ENSP00000434808:L379V;ENSP00000381996:L379V;ENSP00000435242:L56V;ENSP00000353902:L379V;ENSP00000354907:L379V;ENSP00000436323:L325V;ENSP00000409930:L278V;ENSP00000382004:L379V;ENSP00000354785:L379V;ENSP00000354823:L379V;ENSP00000432075:L278V;ENSP00000437156:L278V;ENSP00000351527:L379V;ENSP00000434949:L278V;ENSP00000437051:L56V;ENSP00000435379:L325V;ENSP00000432243:L325V;ENSP00000436744:L325V;ENSP00000413586:L379V;ENSP00000434900:L56V;ENSP00000435266:L278V;ENSP00000432623:L56V;ENSP00000433158:L56V;ENSP00000435494:L325V;ENSP00000434672:L56V;ENSP00000433276:L325V;ENSP00000433334:L325V;ENSP00000437327:L278V;ENSP00000403518:L278V;ENSP00000434017:L278V;ENSP00000435789:L325V;ENSP00000432041:L379V	ENSP00000351527:L379V	L	+	1	2	CTNND1	57325959	0.000000	0.05858	0.290000	0.24890	0.953000	0.61014	-0.233000	0.09041	-1.540000	0.01730	0.455000	0.32223	TTG		0.537	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
OR9Q1	219956	broad.mit.edu	37	11	57947558	57947558	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57947558C>A	ENST00000335397.3	+	3	958	c.642C>A	c.(640-642)atC>atA	p.I214I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I214I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGGTGGTGATCTTGGTGTCCT	0.512																																					p.I214I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642A	11						.						234.0	192.0	206.0					11																	57947558		2201	4296	6497	57704134	SO:0001819	synonymous_variant	219956	exon3			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.642C>A	11.37:g.57947558C>A			57704134	NM_001005212	Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	CCDS31543.1																																																																																				0.512	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212	
OR1S1	219959	broad.mit.edu	37	11	57982522	57982522	+	Silent	SNP	T	T	C	rs367962921		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:57982522T>C	ENST00000309433.6	+	1	306	c.306T>C	c.(304-306)agT>agC	p.S102S		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S102S(4)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAACCAAGAGTCAATCCATCT	0.423													T|||	1	0.000199681	0.0	0.0	5008	,	,		22479	0.001		0.0	False		,,,				2504	0.0				p.S102S												.	.	4	Substitution - coding silent(4)	endometrium(3)|large_intestine(1)	c.T306C	11						.						206.0	197.0	200.0					11																	57982522		2201	4296	6497	57739098	SO:0001819	synonymous_variant	219959	exon1			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.306T>C	11.37:g.57982522T>C			57739098	NM_001004458	Q6IFG3	Silent	SNP	ENST00000309433.6	37	CCDS31546.1																																																																																				0.423	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458	
OR5B3	441608	broad.mit.edu	37	11	58170314	58170314	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58170314C>A	ENST00000309403.2	-	1	568	c.569G>T	c.(568-570)aGa>aTa	p.R190I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R190I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTAATATGTCTATCAGAGCA	0.378																																					p.R190I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569T	11						.						87.0	82.0	83.0					11																	58170314		2201	4295	6496	57926890	SO:0001583	missense	441608	exon1			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.569G>T	11.37:g.58170314C>A	ENSP00000308270:p.Arg190Ile		57926890	NM_001005469	Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	0.260	-1.000512	0.02128	.	.	ENSG00000172769	ENST00000309403	T	0.00058	8.79	4.05	-0.167	0.13347	GPCR, rhodopsin-like superfamily (1);	0.266449	0.26975	N	0.021547	T	0.00039	0.0001	N	0.00215	-1.835	0.09310	N	1	B	0.12013	0.005	B	0.18561	0.022	T	0.37549	-0.9701	10	0.34782	T	0.22	-8.5078	0.5215	0.00613	0.2586:0.2882:0.2496:0.2036	.	190	Q8NH48	OR5B3_HUMAN	I	190	ENSP00000308270:R190I	ENSP00000308270:R190I	R	-	2	0	OR5B3	57926890	0.000000	0.05858	0.004000	0.12327	0.148000	0.21650	-0.215000	0.09279	0.118000	0.18165	0.650000	0.86243	AGA		0.378	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469	
OR5B12	390191	broad.mit.edu	37	11	58207141	58207141	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58207141A>T	ENST00000302572.2	-	1	505	c.484T>A	c.(484-486)Ttc>Atc	p.F162I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F162I(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGAGCCTGAAAGTGTTCCCA	0.448																																					p.F162I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T484A	11						.						126.0	117.0	120.0					11																	58207141		2201	4295	6496	57963717	SO:0001583	missense	390191	exon1			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.484T>A	11.37:g.58207141A>T	ENSP00000306657:p.Phe162Ile		57963717	NM_001004733	B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702377	0.48307	.	.	ENSG00000172362	ENST00000302572	T	0.00241	8.46	4.44	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.00328	0.0010	M	0.62154	1.92	0.09310	N	1	D	0.63046	0.992	P	0.62184	0.899	T	0.47045	-0.9147	10	0.87932	D	0	-28.1969	4.7075	0.12856	0.742:0.0:0.0896:0.1684	.	162	Q96R08	OR5BC_HUMAN	I	162	ENSP00000306657:F162I	ENSP00000306657:F162I	F	-	1	0	OR5B12	57963717	0.003000	0.15002	0.465000	0.27155	0.866000	0.49608	1.699000	0.37804	0.806000	0.34183	0.379000	0.24179	TTC		0.448	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
OR5B12	390191	broad.mit.edu	37	11	58207353	58207353	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58207353A>T	ENST00000302572.2	-	1	293	c.272T>A	c.(271-273)tTa>tAa	p.L91*		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L91*(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCATTATATAATATGAATTT	0.448																																					p.L91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T272A	11						.						69.0	66.0	67.0					11																	58207353		2201	4295	6496	57963929	SO:0001587	stop_gained	390191	exon1			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.272T>A	11.37:g.58207353A>T	ENSP00000306657:p.Leu91*		57963929	NM_001004733	B2RNL2|Q6IEV5	Nonsense_Mutation	SNP	ENST00000302572.2	37	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	A	7.830	0.719602	0.15372	.	.	ENSG00000172362	ENST00000302572	.	.	.	4.75	2.82	0.32997	.	0.273813	0.26439	N	0.024378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.2856	8.2311	0.31599	0.0847:0.0:0.7594:0.1558	.	.	.	.	X	91	.	ENSP00000306657:L91X	L	-	2	0	OR5B12	57963929	0.695000	0.27747	0.002000	0.10522	0.000000	0.00434	3.749000	0.55150	0.669000	0.31146	-0.468000	0.05107	TTA		0.448	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
OR5B21	219968	broad.mit.edu	37	11	58275056	58275056	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58275056A>C	ENST00000360374.2	-	1	522	c.523T>G	c.(523-525)Ttc>Gtc	p.F175V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F175V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCACAGAAGAAATGATTAATC	0.493																																					p.F175V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T523G	11						.						61.0	56.0	58.0					11																	58275056		2201	4295	6496	58031632	SO:0001583	missense	219968	exon1				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.523T>G	11.37:g.58275056A>C	ENSP00000353537:p.Phe175Val		58031632	NM_001005218		Missense_Mutation	SNP	ENST00000360374.2	37	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717775	0.48622	.	.	ENSG00000198283	ENST00000360374	T	0.00350	7.98	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37857	U	0.001907	T	0.01061	0.0035	M	0.90814	3.15	0.28821	N	0.897676	D	0.89917	1.0	D	0.97110	1.0	T	0.20638	-1.0269	10	0.54805	T	0.06	-16.0353	14.3011	0.66352	1.0:0.0:0.0:0.0	.	175	A6NL26	OR5BL_HUMAN	V	175	ENSP00000353537:F175V	ENSP00000353537:F175V	F	-	1	0	OR5B21	58031632	0.080000	0.21391	0.746000	0.31095	0.674000	0.39518	2.440000	0.44855	2.248000	0.74166	0.533000	0.62120	TTC		0.493	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218	
LPXN	9404	broad.mit.edu	37	11	58295000	58295000	+	Missense_Mutation	SNP	G	G	A	rs149511007		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58295000G>A	ENST00000395074.2	-	9	1176	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	LPXN_ENST00000528954.1_Missense_Mutation_p.S368L|LPXN_ENST00000528489.1_Missense_Mutation_p.S343L	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	363	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.S363L(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AATGCCCTTCGACAACTGTGT	0.498																																					p.S368L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1103T	11						.	G	LEU/SER,LEU/SER	0,4402		0,0,2201	101.0	89.0	93.0		1103,1088	4.0	1.0	11	dbSNP_134	93	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	LPXN	NM_001143995.1,NM_004811.2	145,145	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	368/392,363/387	58295000	1,12991	2201	4295	6496	58051576	SO:0001583	missense	9404	exon9			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.1088C>T	11.37:g.58295000G>A	ENSP00000378512:p.Ser363Leu		58051576	NM_001143995	B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241584	0.79912	0.0	1.16E-4	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87809	-2.3;-2.3	6.03	3.95	0.45737	Zinc finger, LIM-type (4);	0.625127	0.17490	N	0.172369	D	0.82600	0.5072	L	0.56396	1.775	0.35584	D	0.806537	P;P;P	0.51057	0.941;0.938;0.933	B;B;B	0.40199	0.322;0.196;0.284	D	0.85805	0.1376	10	0.49607	T	0.09	.	9.4025	0.38442	0.0:0.1184:0.5723:0.3092	.	343;368;363	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	L	368;363	ENSP00000431284:S368L;ENSP00000378512:S363L	ENSP00000378512:S363L	S	-	2	0	LPXN	58051576	0.885000	0.30320	0.972000	0.41901	0.989000	0.77384	3.365000	0.52335	2.868000	0.98415	0.557000	0.71058	TCG		0.498	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811	
ZFP91	80829	broad.mit.edu	37	11	58385068	58385068	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58385068C>A	ENST00000316059.6	+	11	1773	c.1602C>A	c.(1600-1602)atC>atA	p.I534I	ZFP91-CNTF_ENST00000389919.4_Intron	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	534					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.I534I(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGGAAGATCTTTGTGGGAA	0.512																																					p.I534I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1602A	11						.						92.0	87.0	89.0					11																	58385068		2201	4295	6496	58141644	SO:0001819	synonymous_variant	80829	exon11			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1602C>A	11.37:g.58385068C>A			58141644	NM_053023	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Silent	SNP	ENST00000316059.6	37	CCDS31553.1																																																																																				0.512	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023	
GLYATL2	219970	broad.mit.edu	37	11	58604538	58604538	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58604538C>A	ENST00000287275.1	-	5	816	c.426G>T	c.(424-426)aaG>aaT	p.K142N	GLYATL2_ENST00000532258.1_Missense_Mutation_p.K142N|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	142						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)	p.K142N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TACTTGAGGTCTTGTGTTTCT	0.358																																					p.K142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	11						.						188.0	172.0	177.0					11																	58604538		1894	4116	6010	58361114	SO:0001583	missense	219970	exon5			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.426G>T	11.37:g.58604538C>A	ENSP00000287275:p.Lys142Asn		58361114	NM_145016	A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	ENST00000287275.1	37	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.189633	0.01607	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.19532	2.14;2.14	1.61	-0.508	0.11980	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.396910	0.04800	N	0.433361	T	0.11067	0.0270	N	0.16790	0.44	0.09310	N	1	B	0.25272	0.122	B	0.15870	0.014	T	0.25950	-1.0117	10	0.27082	T	0.32	.	3.0687	0.06222	0.0:0.5241:0.285:0.1909	.	142	Q8WU03	GLYL2_HUMAN	N	142	ENSP00000287275:K142N;ENSP00000434277:K142N	ENSP00000287275:K142N	K	-	3	2	GLYATL2	58361114	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-0.268000	0.08607	-0.114000	0.11936	-1.006000	0.02489	AAG		0.358	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016	
GLYATL1	92292	broad.mit.edu	37	11	58722327	58722327	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58722327A>G	ENST00000317391.4	+	6	611	c.271A>G	c.(271-273)Aat>Gat	p.N91D	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Missense_Mutation_p.N122D	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	91						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.N122D(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGTTTTGAAAAATTGTGAGAT	0.383																																					p.N122D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A364G	11						.						80.0	77.0	78.0					11																	58722327		2201	4295	6496	58478903	SO:0001583	missense	92292	exon5			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.271A>G	11.37:g.58722327A>G	ENSP00000322223:p.Asn91Asp		58478903	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	5.247	0.231123	0.09969	.	.	ENSG00000166840	ENST00000526351;ENST00000444580;ENST00000317391;ENST00000300079	T;T;T	0.13778	2.56;2.56;2.56	2.37	-4.73	0.03259	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	1.167940	0.06758	U	0.781200	T	0.08670	0.0215	N	0.25647	0.755	0.09310	N	1	P;P	0.50710	0.938;0.862	B;P	0.45474	0.444;0.482	T	0.10314	-1.0635	10	0.15952	T	0.53	.	4.4696	0.11706	0.218:0.0:0.1362:0.6458	.	122;91	Q969I3-2;Q969I3	.;GLYL1_HUMAN	D	114;68;91;122	ENSP00000434652:N114D;ENSP00000322223:N91D;ENSP00000300079:N122D	ENSP00000300079:N122D	N	+	1	0	GLYATL1	58478903	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.617000	0.02051	-1.786000	0.01269	0.164000	0.16699	AAT		0.383	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
GLYATL1	92292	broad.mit.edu	37	11	58723383	58723383	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58723383C>A	ENST00000317391.4	+	8	1132	c.792C>A	c.(790-792)atC>atA	p.I264I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000300079.5_Silent_p.I295I|RP11-142C4.6_ENST00000525714.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	264						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)	p.I295I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CATTTTACATCTCTGTGTTGG	0.468																																					p.I295I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885A	11						.						72.0	69.0	70.0					11																	58723383		2201	4295	6496	58479959	SO:0001819	synonymous_variant	92292	exon7			AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.792C>A	11.37:g.58723383C>A			58479959	NM_080661	A6NDT0|Q7Z510|Q8NAW8	Silent	SNP	ENST00000317391.4	37	CCDS55768.1																																																																																				0.468	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
FAM111B	374393	broad.mit.edu	37	11	58891794	58891794	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58891794A>C	ENST00000343597.3	+	4	415	c.224A>C	c.(223-225)aAc>aCc	p.N75T	FAM111B_ENST00000411426.1_Missense_Mutation_p.N45T|FAM111B_ENST00000529618.1_Missense_Mutation_p.N45T	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	75							catalytic activity (GO:0003824)	p.N75T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCAAATTTGAACAATAAAGAA	0.378																																					p.N45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134C	11						.						120.0	113.0	115.0					11																	58891794		2201	4295	6496	58648370	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.224A>C	11.37:g.58891794A>C	ENSP00000341565:p.Asn75Thr		58648370	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.341824	0.01277	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000534403;ENST00000343597	T;T;T	0.30981	1.52;1.52;1.51	2.75	-0.896	0.10557	.	1.277380	0.06005	N	0.648489	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.26360	-1.0105	10	0.10902	T	0.67	.	4.0486	0.09785	0.3521:0.2164:0.4314:0.0	.	75	Q6SJ93	F111B_HUMAN	T	45;45;45;75	ENSP00000393855:N45T;ENSP00000432875:N45T;ENSP00000341565:N75T	ENSP00000341565:N75T	N	+	2	0	FAM111B	58648370	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.863000	0.04259	-0.159000	0.11021	-0.256000	0.11100	AAC		0.378	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111B	374393	broad.mit.edu	37	11	58892158	58892158	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58892158G>T	ENST00000343597.3	+	4	779	c.588G>T	c.(586-588)aaG>aaT	p.K196N	FAM111B_ENST00000411426.1_Missense_Mutation_p.K166N|FAM111B_ENST00000529618.1_Missense_Mutation_p.K166N	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	196							catalytic activity (GO:0003824)	p.K196N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGACAAGAAAGAAGATTGTTA	0.373																																					p.K166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	11						.						106.0	102.0	103.0					11																	58892158		2201	4294	6495	58648734	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.588G>T	11.37:g.58892158G>T	ENSP00000341565:p.Lys196Asn		58648734	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752686	0.49362	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.37235	1.23;1.23;1.21	4.52	0.00148	0.14046	.	0.331184	0.21983	U	0.066267	T	0.44787	0.1310	M	0.70275	2.135	0.09310	N	1	D	0.62365	0.991	P	0.58013	0.831	T	0.30001	-0.9993	10	0.87932	D	0	.	3.8874	0.09103	0.5571:0.0:0.26:0.183	.	196	Q6SJ93	F111B_HUMAN	N	166;166;196	ENSP00000393855:K166N;ENSP00000432875:K166N;ENSP00000341565:K196N	ENSP00000341565:K196N	K	+	3	2	FAM111B	58648734	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.481000	0.06552	0.121000	0.18284	0.655000	0.94253	AAG		0.373	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111B	374393	broad.mit.edu	37	11	58892819	58892819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58892819C>T	ENST00000343597.3	+	4	1440	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	FAM111B_ENST00000411426.1_Missense_Mutation_p.R387W|FAM111B_ENST00000529618.1_Missense_Mutation_p.R387W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	417							catalytic activity (GO:0003824)	p.R417W(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AAAATATTTTCGGGAAGAACA	0.343																																					p.R387W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159T	11						.						64.0	69.0	68.0					11																	58892819		2200	4294	6494	58649395	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1249C>T	11.37:g.58892819C>T	ENSP00000341565:p.Arg417Trp		58649395	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529875	0.27387	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.33216	1.42;1.42;1.42	3.85	-4.95	0.03048	.	1.340670	0.05675	N	0.589333	T	0.18173	0.0436	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.72032	D	0.01	.	5.8326	0.18588	0.5503:0.2761:0.0:0.1736	.	417	Q6SJ93	F111B_HUMAN	W	387;387;417	ENSP00000393855:R387W;ENSP00000432875:R387W;ENSP00000341565:R417W	ENSP00000341565:R417W	R	+	1	2	FAM111B	58649395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.625000	0.02036	-0.669000	0.05289	-0.894000	0.02916	CGG		0.343	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111B	374393	broad.mit.edu	37	11	58893108	58893108	+	Missense_Mutation	SNP	C	C	T	rs139496218		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58893108C>T	ENST00000343597.3	+	4	1729	c.1538C>T	c.(1537-1539)gCg>gTg	p.A513V	FAM111B_ENST00000411426.1_Missense_Mutation_p.A483V|FAM111B_ENST00000529618.1_Missense_Mutation_p.A483V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	513							catalytic activity (GO:0003824)	p.A513V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGCAAATGTGCGAAGGTAACC	0.393																																					p.A483V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448T	11						.	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4402		0,0,2201	105.0	101.0	102.0		1448,1448,1538	-2.3	0.0	11	dbSNP_134	102	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	64,64,64	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	483/705,483/705,513/735	58893108	1,12989	2201	4294	6495	58649684	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1538C>T	11.37:g.58893108C>T	ENSP00000341565:p.Ala513Val		58649684	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	4.837	0.155598	0.09236	0.0	1.16E-4	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.88586	-2.4;-2.4;-2.4	4.63	-2.27	0.06846	Peptidase cysteine/serine, trypsin-like (1);	0.579805	0.15421	N	0.263247	T	0.63663	0.2530	N	0.04636	-0.2	0.09310	N	1	P	0.36647	0.563	B	0.31751	0.135	T	0.67581	-0.5634	10	0.02654	T	1	.	4.7182	0.12904	0.1419:0.4201:0.0:0.438	.	513	Q6SJ93	F111B_HUMAN	V	483;483;513	ENSP00000393855:A483V;ENSP00000432875:A483V;ENSP00000341565:A513V	ENSP00000341565:A513V	A	+	2	0	FAM111B	58649684	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-0.128000	0.10531	-0.273000	0.09246	-0.150000	0.13652	GCG		0.393	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111B	374393	broad.mit.edu	37	11	58893641	58893641	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58893641C>A	ENST00000343597.3	+	4	2262	c.2071C>A	c.(2071-2073)Ctt>Att	p.L691I	FAM111B_ENST00000411426.1_Missense_Mutation_p.L661I|FAM111B_ENST00000529618.1_Missense_Mutation_p.L661I	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	691							catalytic activity (GO:0003824)	p.L691I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GGATTCTATTCTTTGTGATAT	0.333																																					p.L661I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1981A	11						.						83.0	84.0	83.0					11																	58893641		2201	4295	6496	58650217	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.2071C>A	11.37:g.58893641C>A	ENSP00000341565:p.Leu691Ile		58650217	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	9.047	0.991149	0.18966	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.36340	1.26;1.26;1.26	4.36	1.27	0.21489	Peptidase cysteine/serine, trypsin-like (1);	0.433027	0.17855	N	0.159729	T	0.33847	0.0877	L	0.61387	1.9	0.09310	N	1	P	0.41673	0.759	B	0.40565	0.333	T	0.16600	-1.0397	10	0.59425	D	0.04	.	8.2939	0.31973	0.2981:0.5522:0.1497:0.0	.	691	Q6SJ93	F111B_HUMAN	I	661;661;691	ENSP00000393855:L661I;ENSP00000432875:L661I;ENSP00000341565:L691I	ENSP00000341565:L691I	L	+	1	0	FAM111B	58650217	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.922000	0.04004	0.167000	0.19631	0.650000	0.86243	CTT		0.333	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111A	63901	broad.mit.edu	37	11	58919840	58919840	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58919840C>A	ENST00000528737.1	+	5	3517	c.699C>A	c.(697-699)tcC>tcA	p.S233S	FAM111A_ENST00000531147.1_Silent_p.S233S|FAM111A_ENST00000420244.1_Silent_p.S233S|FAM111A_ENST00000533703.1_Silent_p.S233S|FAM111A_ENST00000361723.3_Silent_p.S233S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	233					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S233S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GATTTCTTTCCTTTCTGGAGA	0.413																																					p.S233S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C699A	11						.						120.0	120.0	120.0					11																	58919840		2201	4295	6496	58676416	SO:0001819	synonymous_variant	63901	exon5			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.699C>A	11.37:g.58919840C>A			58676416	NM_001142521	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	CCDS7973.1																																																																																				0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
FAM111A	63901	broad.mit.edu	37	11	58920755	58920755	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:58920755T>C	ENST00000528737.1	+	5	4432	c.1614T>C	c.(1612-1614)ttT>ttC	p.F538F	FAM111A_ENST00000531147.1_Silent_p.F538F|FAM111A_ENST00000420244.1_Silent_p.F538F|FAM111A_ENST00000533703.1_Silent_p.F538F|FAM111A_ENST00000361723.3_Silent_p.F538F			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	538	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F538F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATTTTTCTTTGGGGCTTCCG	0.413																																					p.F538F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1614C	11						.						98.0	104.0	102.0					11																	58920755		2201	4295	6496	58677331	SO:0001819	synonymous_variant	63901	exon5			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1614T>C	11.37:g.58920755T>C			58677331	NM_001142521	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	CCDS7973.1																																																																																				0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
OR4D6	219983	broad.mit.edu	37	11	59224526	59224526	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59224526C>A	ENST00000300127.2	+	1	116	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTGGTCTTCTTTGCTGTGT	0.468																																					p.F31L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C93A	11						.						244.0	223.0	230.0					11																	59224526		2201	4295	6496	58981102	SO:0001583	missense	219983	exon1			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.93C>A	11.37:g.59224526C>A	ENSP00000300127:p.Phe31Leu		58981102	NM_001004708	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493590	0.26774	.	.	ENSG00000166884	ENST00000300127	T	0.04454	3.62	5.9	1.79	0.24919	.	0.000000	0.56097	D	0.000033	T	0.04724	0.0128	L	0.47716	1.5	0.09310	N	0.999997	B	0.13145	0.007	B	0.15484	0.013	T	0.35822	-0.9773	10	0.41790	T	0.15	-23.6324	5.8416	0.18637	0.2694:0.5785:0.0:0.1521	.	31	Q8NGJ1	OR4D6_HUMAN	L	31	ENSP00000300127:F31L	ENSP00000300127:F31L	F	+	3	2	OR4D6	58981102	0.000000	0.05858	0.065000	0.19835	0.943000	0.58893	-1.199000	0.03032	0.068000	0.16574	0.655000	0.94253	TTC		0.468	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708	
OR4D10	390197	broad.mit.edu	37	11	59244933	59244933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59244933G>T	ENST00000530162.1	+	1	88	c.31G>T	c.(31-33)Gaa>Taa	p.E11*		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E9*(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGGTAAAAGAATTTATTTT	0.388																																					p.E11X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G31T	11						.						68.0	68.0	68.0					11																	59244933		1918	4127	6045	59001509	SO:0001587	stop_gained	390197	exon1			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.31G>T	11.37:g.59244933G>T	ENSP00000436424:p.Glu11*		59001509	NM_001004705	B2RNH6	Nonsense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605045	0.66445	.	.	ENSG00000254466	ENST00000530162	.	.	.	4.02	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.5802	0.45250	0.0985:0.0:0.9015:0.0	.	.	.	.	X	11	.	ENSP00000436424:E11X	E	+	1	0	OR4D10	59001509	1.000000	0.71417	0.071000	0.20095	0.050000	0.14768	4.272000	0.58908	0.782000	0.33613	0.655000	0.94253	GAA		0.388	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
OR4D10	390197	broad.mit.edu	37	11	59245240	59245240	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59245240T>G	ENST00000530162.1	+	1	395	c.338T>G	c.(337-339)tTt>tGt	p.F113C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F111C(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGATGTATTTTCTCTTTCG	0.463																																					p.F113C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T338G	11						.						81.0	83.0	83.0					11																	59245240		2164	4280	6444	59001816	SO:0001583	missense	390197	exon1			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.338T>G	11.37:g.59245240T>G	ENSP00000436424:p.Phe113Cys		59001816	NM_001004705	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	T	5.241	0.229970	0.09969	.	.	ENSG00000254466	ENST00000530162	T	0.06449	3.3	4.4	-1.05	0.10036	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06826	0.0174	L	0.56340	1.77	0.09310	N	1	B	0.21905	0.062	B	0.30316	0.114	T	0.43925	-0.9361	9	0.66056	D	0.02	.	1.5171	0.02508	0.1395:0.1644:0.1448:0.5513	.	113	Q8NGI6	OR4DA_HUMAN	C	113	ENSP00000436424:F113C	ENSP00000436424:F113C	F	+	2	0	OR4D10	59001816	0.000000	0.05858	0.006000	0.13384	0.032000	0.12392	0.557000	0.23454	-0.431000	0.07307	0.533000	0.62120	TTT		0.463	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
OR4D11	219986	broad.mit.edu	37	11	59271355	59271355	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59271355C>A	ENST00000313253.1	+	1	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L103I(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAGATATTTCTCTTCCACCT	0.468																																					p.L103I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307A	11						.						186.0	175.0	179.0					11																	59271355		2201	4295	6496	59027931	SO:0001583	missense	219986	exon1			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.307C>A	11.37:g.59271355C>A	ENSP00000320077:p.Leu103Ile		59027931	NM_001004706		Missense_Mutation	SNP	ENST00000313253.1	37	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727901	0.30593	.	.	ENSG00000176200	ENST00000313253	T	0.00406	7.55	5.44	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.243896	0.29165	N	0.012946	T	0.00241	0.0007	N	0.16862	0.45	0.21950	N	0.999456	B	0.15930	0.015	B	0.23150	0.044	T	0.41610	-0.9499	10	0.36615	T	0.2	-47.4943	4.3623	0.11208	0.0:0.1943:0.168:0.6377	.	103	Q8NGI4	OR4DB_HUMAN	I	103	ENSP00000320077:L103I	ENSP00000320077:L103I	L	+	1	0	OR4D11	59027931	0.000000	0.05858	0.974000	0.42286	0.988000	0.76386	0.064000	0.14437	0.368000	0.24481	-0.484000	0.04775	CTC		0.468	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706	
OR4D9	390199	broad.mit.edu	37	11	59282396	59282396	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59282396G>A	ENST00000329328.3	+	1	11	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R4K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGGATCAGAGAAATTACACC	0.373																																					p.R4K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11A	11						.						85.0	84.0	84.0					11																	59282396		2201	4294	6495	59038972	SO:0001583	missense	390199	exon1			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.11G>A	11.37:g.59282396G>A	ENSP00000328563:p.Arg4Lys		59038972	NM_001004711	Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267075	0.01433	.	.	ENSG00000172742	ENST00000329328	T	0.00253	8.43	3.76	2.84	0.33178	.	1.671880	0.04014	U	0.298698	T	0.00109	0.0003	N	0.13299	0.325	0.19945	N	0.999942	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.07813	T	0.8	.	6.2286	0.20722	0.3214:0.0:0.6786:0.0	.	4	Q8NGE8	OR4D9_HUMAN	K	4	ENSP00000328563:R4K	ENSP00000328563:R4K	R	+	2	0	OR4D9	59038972	0.016000	0.18221	0.599000	0.28851	0.314000	0.28054	0.724000	0.25954	0.681000	0.31386	-0.189000	0.12847	AGA		0.373	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711	
STX3	6809	broad.mit.edu	37	11	59560961	59560961	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59560961G>T	ENST00000337979.4	+	8	1196	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	STX3_ENST00000437946.2_Missense_Mutation_p.D120Y|STX3_ENST00000300150.7_Missense_Mutation_p.D186Y|STX3_ENST00000529177.1_Missense_Mutation_p.D217Y|STX3_ENST00000535361.1_Missense_Mutation_p.D217Y	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	217	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.D217Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CATGTTTATGGACATCGCCAT	0.537																																					p.D217Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649T	11						.						130.0	105.0	113.0					11																	59560961		2201	4295	6496	59317537	SO:0001583	missense	6809	exon8			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.649G>T	11.37:g.59560961G>T	ENSP00000338562:p.Asp217Tyr		59317537	NM_001178040	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993773	0.74703	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805;ENST00000530221	T;T;T;T;T;T;T	0.35421	1.44;1.44;1.44;1.44;1.44;1.44;1.31	5.34	4.43	0.53597	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.086033	0.85682	D	0.000000	T	0.68522	0.3010	H	0.95504	3.68	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.74657	-0.3592	10	0.33940	T	0.23	-2.3346	12.528	0.56098	0.0815:0.0:0.9185:0.0	.	120;217;217;217	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	Y	186;217;217;120;217;169;4	ENSP00000300150:D186Y;ENSP00000338562:D217Y;ENSP00000441649:D217Y;ENSP00000393536:D120Y;ENSP00000433248:D217Y;ENSP00000431386:D169Y;ENSP00000434836:D4Y	ENSP00000300150:D186Y	D	+	1	0	STX3	59317537	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.273000	0.95719	1.229000	0.43630	0.650000	0.86243	GAC		0.537	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177	
GIF	2694	broad.mit.edu	37	11	59599178	59599178	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59599178G>T	ENST00000257248.2	-	8	1212	c.1165C>A	c.(1165-1167)Ctt>Att	p.L389I	GIF_ENST00000541311.1_Missense_Mutation_p.L364I	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	389	Cobalamin binding.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.L389I(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	ACACCACTAAGAAACTGCCAG	0.358																																					p.L389I	NSCLC(53;1139 1245 16872 38474 42853)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1165A	11						.						117.0	106.0	110.0					11																	59599178		2201	4295	6496	59355754	SO:0001583	missense	2694	exon8			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1165C>A	11.37:g.59599178G>T	ENSP00000257248:p.Leu389Ile		59355754	NM_005142	B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167494	0.78339	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.52057	0.79;0.68	5.41	5.41	0.78517	.	0.108239	0.40385	N	0.001112	T	0.56615	0.1997	M	0.79011	2.435	0.37681	D	0.923487	P	0.44946	0.846	P	0.46110	0.504	T	0.66460	-0.5918	10	0.52906	T	0.07	-13.1848	14.7112	0.69232	0.0:0.0:1.0:0.0	.	389	P27352	IF_HUMAN	I	389;364	ENSP00000257248:L389I;ENSP00000440427:L364I	ENSP00000257248:L389I	L	-	1	0	GIF	59355754	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.416000	0.44644	2.532000	0.85374	0.655000	0.94253	CTT		0.358	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142	
GIF	2694	broad.mit.edu	37	11	59610014	59610014	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59610014G>A	ENST00000257248.2	-	4	460	c.413C>T	c.(412-414)gCg>gTg	p.A138V	GIF_ENST00000541311.1_Missense_Mutation_p.A113V	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	138					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.A138V(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TGCCAAGATCGCTAGACTGGG	0.557																																					p.A138V	NSCLC(53;1139 1245 16872 38474 42853)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	11						.						92.0	78.0	83.0					11																	59610014		2201	4295	6496	59366590	SO:0001583	missense	2694	exon4			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.413C>T	11.37:g.59610014G>A	ENSP00000257248:p.Ala138Val		59366590	NM_005142	B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599931	0.87055	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.37411	1.2;1.2	5.63	4.67	0.58626	.	0.181621	0.38663	N	0.001607	T	0.49881	0.1583	M	0.65975	2.015	0.39727	D	0.971558	D	0.76494	0.999	P	0.56648	0.803	T	0.48080	-0.9066	10	0.41790	T	0.15	-15.2944	13.1224	0.59334	0.0:0.161:0.8389:0.0	.	138	P27352	IF_HUMAN	V	138;113	ENSP00000257248:A138V;ENSP00000440427:A113V	ENSP00000257248:A138V	A	-	2	0	GIF	59366590	0.978000	0.34361	0.984000	0.44739	0.969000	0.65631	1.859000	0.39418	2.826000	0.97356	0.655000	0.94253	GCG		0.557	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142	
TCN1	6947	broad.mit.edu	37	11	59626700	59626700	+	Missense_Mutation	SNP	C	C	A	rs200450074		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59626700C>A	ENST00000257264.3	-	5	701	c.597G>T	c.(595-597)aaG>aaT	p.K199N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	199	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)	p.K199N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGACTCTTCTTCACACAGG	0.428																																					p.K199N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G597T	11						.						180.0	160.0	167.0					11																	59626700		2201	4295	6496	59383276	SO:0001583	missense	6947	exon5			J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.597G>T	11.37:g.59626700C>A	ENSP00000257264:p.Lys199Asn		59383276	NM_001062	A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545591	0.27652	.	.	ENSG00000134827	ENST00000257264	T	0.40476	1.03	4.92	-4.72	0.03269	.	0.904208	0.09325	N	0.817645	T	0.39911	0.1096	L	0.56769	1.78	0.09310	N	1	P	0.49307	0.922	P	0.49953	0.627	T	0.39210	-0.9625	10	0.19590	T	0.45	.	7.2377	0.26079	0.0:0.2845:0.4578:0.2577	.	199	P20061	TCO1_HUMAN	N	199	ENSP00000257264:K199N	ENSP00000257264:K199N	K	-	3	2	TCN1	59383276	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-1.482000	0.02320	-0.707000	0.05022	-1.954000	0.00483	AAG		0.428	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
MS4A2	2206	broad.mit.edu	37	11	59857288	59857288	+	Silent	SNP	C	C	T	rs267603048		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59857288C>T	ENST00000278888.3	+	2	282	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	60					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.F60F(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGCAGGAGTTCCTGGGGGTGA	0.458																																					p.F60F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	11						.						64.0	63.0	63.0					11																	59857288		2201	4295	6496	59613864	SO:0001819	synonymous_variant	2206	exon2			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.180C>T	11.37:g.59857288C>T			59613864	NM_000139	Q54A81	Silent	SNP	ENST00000278888.3	37	CCDS7980.1																																																																																				0.458	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		
MS4A2	2206	broad.mit.edu	37	11	59861518	59861518	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:59861518G>T	ENST00000278888.3	+	6	721	c.619G>T	c.(619-621)Gaa>Taa	p.E207*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	207					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.E207*(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGCTGGGGAAGAACTCAAAGG	0.403																																					p.E207X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G619T	11						.						106.0	95.0	99.0					11																	59861518		2201	4295	6496	59618094	SO:0001587	stop_gained	2206	exon6			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.619G>T	11.37:g.59861518G>T	ENSP00000278888:p.Glu207*		59618094	NM_000139	Q54A81	Nonsense_Mutation	SNP	ENST00000278888.3	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478973	0.26511	.	.	ENSG00000149534	ENST00000278888	.	.	.	4.32	-6.03	0.02185	.	1.713730	0.03534	N	0.222830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	0.1268	1.0545	0.01587	0.1611:0.112:0.3391:0.3878	.	.	.	.	X	207	.	ENSP00000278888:E207X	E	+	1	0	MS4A2	59618094	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.207000	0.01230	-1.251000	0.02494	0.637000	0.83480	GAA		0.403	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		
MS4A4A	51338	broad.mit.edu	37	11	60064746	60064746	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60064746G>A	ENST00000337908.4	+	3	368	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MS4A4A_ENST00000395016.3_Missense_Mutation_p.G74E|MS4A4A_ENST00000532114.1_Missense_Mutation_p.G93E|MS4A4A_ENST00000355131.3_Missense_Mutation_p.G74E	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	93						integral component of membrane (GO:0016021)		p.G74E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AATACTTATGGAAGTAACCCT	0.378																																					p.G93E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	11						.						174.0	148.0	157.0					11																	60064746		2203	4300	6503	59821322	SO:0001583	missense	51338	exon3			AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.278G>A	11.37:g.60064746G>A	ENSP00000338648:p.Gly93Glu		59821322	NM_148975	Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	0.338	-0.951895	0.02285	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.18657	2.2;3.1;3.12;3.12	4.07	-8.13	0.01073	.	3.721670	0.01263	N	0.009254	T	0.11665	0.0284	N	0.10945	0.07	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.14578	0.003;0.011	T	0.12041	-1.0563	10	0.29301	T	0.29	7.1007	13.1781	0.59639	0.7576:0.0:0.2424:0.0	.	93;93	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	E	93;93;74;74	ENSP00000434506:G93E;ENSP00000338648:G93E;ENSP00000347252:G74E;ENSP00000378462:G74E	ENSP00000338648:G93E	G	+	2	0	MS4A4A	59821322	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.894000	0.01607	-1.970000	0.01003	-1.462000	0.01023	GGA		0.378	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		
MS4A4A	51338	broad.mit.edu	37	11	60068514	60068514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60068514G>T	ENST00000337908.4	+	4	461	c.371G>T	c.(370-372)aGa>aTa	p.R124I	MS4A4A_ENST00000395016.3_Missense_Mutation_p.R105I|MS4A4A_ENST00000532114.1_Missense_Mutation_p.R124I|MS4A4A_ENST00000355131.3_Missense_Mutation_p.R105I	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	124						integral component of membrane (GO:0016021)		p.R105I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GCAGGAATTAGAACTACAAAA	0.313																																					p.R124I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371T	11						.						74.0	74.0	74.0					11																	60068514		2203	4299	6502	59825090	SO:0001583	missense	51338	exon4			AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.371G>T	11.37:g.60068514G>T	ENSP00000338648:p.Arg124Ile		59825090	NM_148975	Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864444	0.51482	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.02606	4.23;4.23;4.23;4.23	4.3	3.39	0.38822	.	1.316680	0.05234	N	0.510874	T	0.09905	0.0243	M	0.67953	2.075	0.39160	D	0.962398	D;P	0.55605	0.972;0.938	P;P	0.53549	0.729;0.726	T	0.06752	-1.0809	10	0.54805	T	0.06	-10.4007	8.3998	0.32579	0.1092:0.0:0.8908:0.0	.	124;124	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	I	124;124;105;105	ENSP00000434506:R124I;ENSP00000338648:R124I;ENSP00000347252:R105I;ENSP00000378462:R105I	ENSP00000338648:R124I	R	+	2	0	MS4A4A	59825090	0.119000	0.22226	0.771000	0.31576	0.831000	0.47069	0.086000	0.14935	1.172000	0.42781	0.467000	0.42956	AGA		0.313	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2		
MS4A14	84689	broad.mit.edu	37	11	60183576	60183576	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60183576G>T	ENST00000300187.6	+	5	1412	c.1135G>T	c.(1135-1137)Gat>Tat	p.D379Y	MS4A14_ENST00000531783.1_Missense_Mutation_p.D412Y|MS4A14_ENST00000395005.2_Missense_Mutation_p.D362Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.D267Y|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	379						integral component of membrane (GO:0016021)		p.D379Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						gacatcccaagatatgcaatc	0.458																																					p.D379Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135T	11						.						141.0	109.0	120.0					11																	60183576		2203	4300	6503	59940152	SO:0001583	missense	84689	exon5			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1135G>T	11.37:g.60183576G>T	ENSP00000300187:p.Asp379Tyr		59940152	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	6.317	0.426653	0.11987	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.33865	1.39;2.63;1.4;2.97	2.97	-1.22	0.09494	.	4.068660	0.00639	N	0.000518	T	0.44350	0.1289	L	0.34521	1.04	0.09310	N	0.999998	D;D	0.67145	0.996;0.994	D;P	0.66847	0.947;0.885	T	0.28744	-1.0034	10	0.51188	T	0.08	0.0019	3.5797	0.07947	0.3819:0.2171:0.401:0.0	.	362;379	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	267;379;362;412	ENSP00000437222:D267Y;ENSP00000300187:D379Y;ENSP00000378453:D362Y;ENSP00000433761:D412Y	ENSP00000300187:D379Y	D	+	1	0	MS4A14	59940152	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.874000	0.04210	-0.262000	0.09392	-0.300000	0.09419	GAT		0.458	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MS4A14	84689	broad.mit.edu	37	11	60183940	60183940	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60183940G>T	ENST00000300187.6	+	5	1776	c.1499G>T	c.(1498-1500)aGa>aTa	p.R500I	MS4A14_ENST00000531783.1_Missense_Mutation_p.R533I|MS4A14_ENST00000395005.2_Missense_Mutation_p.R483I|MS4A14_ENST00000531787.1_Missense_Mutation_p.R388I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	500	Gln-rich.					integral component of membrane (GO:0016021)		p.R500I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACTTAAGGAGACATTCTTTA	0.433																																					p.R500I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1499T	11						.						87.0	91.0	90.0					11																	60183940		2203	4300	6503	59940516	SO:0001583	missense	84689	exon5			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1499G>T	11.37:g.60183940G>T	ENSP00000300187:p.Arg500Ile		59940516	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	7.178	0.589052	0.13812	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.35605	1.3;2.49;1.3;2.85	2.66	-3.74	0.04385	.	6.479460	0.00166	N	0.000014	T	0.24928	0.0605	L	0.49126	1.545	0.09310	N	1	P;P	0.37548	0.599;0.464	B;B	0.20184	0.028;0.012	T	0.20207	-1.0282	10	0.40728	T	0.16	-0.0023	4.8077	0.13328	0.4644:0.3461:0.1895:0.0	.	483;500	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	388;500;483;533	ENSP00000437222:R388I;ENSP00000300187:R500I;ENSP00000378453:R483I;ENSP00000433761:R533I	ENSP00000300187:R500I	R	+	2	0	MS4A14	59940516	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.028000	0.13644	-0.808000	0.04387	-1.342000	0.01247	AGA		0.433	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MS4A5	64232	broad.mit.edu	37	11	60215195	60215195	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60215195G>T	ENST00000300190.2	+	5	652	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	189						integral component of membrane (GO:0016021)		p.C189F(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ATTTTGGGGTGCCACTCAGAG	0.333																																					p.C189F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566T	11						.						174.0	175.0	175.0					11																	60215195		2203	4300	6503	59971771	SO:0001583	missense	64232	exon5			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.566G>T	11.37:g.60215195G>T	ENSP00000300190:p.Cys189Phe		59971771	NM_023945	Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.329983	0.01298	.	.	ENSG00000166930	ENST00000300190	T	0.03065	4.06	4.22	0.118	0.14667	.	0.100234	0.40640	U	0.001050	T	0.05044	0.0135	M	0.83012	2.62	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35895	-0.9770	10	0.52906	T	0.07	2.7918	0.9163	0.01305	0.2117:0.1853:0.4121:0.1909	.	189	Q9H3V2	MS4A5_HUMAN	F	189	ENSP00000300190:C189F	ENSP00000300190:C189F	C	+	2	0	MS4A5	59971771	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.764000	0.04735	0.150000	0.19136	0.467000	0.42956	TGC		0.333	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1		
MS4A1	931	broad.mit.edu	37	11	60235878	60235878	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60235878G>A	ENST00000534668.1	+	7	1120	c.831G>A	c.(829-831)acG>acA	p.T277T	MS4A1_ENST00000345732.4_Silent_p.T277T|MS4A1_ENST00000532073.1_Silent_p.T264T|MS4A1_ENST00000528313.1_Silent_p.T110T|MS4A1_ENST00000389939.2_Silent_p.T277T	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	277					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.T277T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AAACAGAGACGAACTTTCCAG	0.378																																					p.T277T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G831A	11						.						105.0	102.0	103.0					11																	60235878		2203	4300	6503	59992454	SO:0001819	synonymous_variant	931	exon7			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.831G>A	11.37:g.60235878G>A			59992454	NM_021950	A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	ENST00000534668.1	37	CCDS31570.1																																																																																				0.378	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1		
MS4A8	83661	broad.mit.edu	37	11	60468341	60468341	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60468341C>T	ENST00000300226.2	+	2	211	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	3						integral component of membrane (GO:0016021)		p.S3L(2)									AGCATGAATTCGATGACTTCA	0.458																																					p.S3L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8T	11						.						140.0	140.0	140.0					11																	60468341		2203	4300	6503	60224917	SO:0001583	missense	83661	exon2			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.8C>T	11.37:g.60468341C>T	ENSP00000300226:p.Ser3Leu		60224917	NM_031457	Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879347	0.33162	.	.	ENSG00000166959	ENST00000300226;ENST00000529752	T;T	0.16743	3.22;2.32	3.42	2.49	0.30216	.	1.016890	0.07937	N	0.978600	T	0.15003	0.0362	L	0.40543	1.245	0.09310	N	1	B;B	0.21452	0.056;0.015	B;B	0.12156	0.007;0.001	T	0.26883	-1.0090	10	0.59425	D	0.04	0.4409	6.9132	0.24346	0.0:0.8677:0.0:0.1323	.	3;3	E9PQE1;Q9BY19	.;M4A8B_HUMAN	L	3	ENSP00000300226:S3L;ENSP00000436857:S3L	ENSP00000300226:S3L	S	+	2	0	MS4A8B	60224917	0.001000	0.12720	0.015000	0.15790	0.052000	0.14988	1.420000	0.34804	0.775000	0.33450	-0.320000	0.08662	TCG		0.458	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
MS4A15	219995	broad.mit.edu	37	11	60541334	60541334	+	Missense_Mutation	SNP	G	G	A	rs200402929		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60541334G>A	ENST00000405633.3	+	6	602	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	MS4A15_ENST00000528170.1_Missense_Mutation_p.V134M|MS4A15_ENST00000337911.4_Missense_Mutation_p.V82M	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	175						integral component of membrane (GO:0016021)		p.V82M(1)		breast(1)|large_intestine(2)|lung(3)	6						CTATCTGGCCGTGCTTACTAT	0.577																																					p.V175M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	11						.						247.0	192.0	210.0					11																	60541334		2203	4300	6503	60297910	SO:0001583	missense	219995	exon6			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.523G>A	11.37:g.60541334G>A	ENSP00000386022:p.Val175Met		60297910	NM_001098835	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913197	0.33815	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.19250	2.19;2.16;2.48	4.83	4.83	0.62350	.	0.132904	0.49305	D	0.000143	T	0.40196	0.1107	M	0.62016	1.91	0.37912	D	0.931418	D;D	0.89917	0.959;1.0	B;D	0.80764	0.362;0.994	T	0.27571	-1.0070	10	0.20519	T	0.43	-25.2779	13.4224	0.61005	0.0:0.0:1.0:0.0	.	134;175	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	M	134;82;175	ENSP00000434165:V134M;ENSP00000338692:V82M;ENSP00000386022:V175M	ENSP00000338692:V82M	V	+	1	0	MS4A15	60297910	0.960000	0.32886	0.981000	0.43875	0.074000	0.17049	1.506000	0.35747	2.243000	0.73865	0.555000	0.69702	GTG		0.577	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		
MS4A15	219995	broad.mit.edu	37	11	60543093	60543093	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60543093C>T	ENST00000405633.3	+	7	707	c.628C>T	c.(628-630)Cca>Tca	p.P210S	MS4A15_ENST00000528170.1_Missense_Mutation_p.P169S|MS4A15_ENST00000337911.4_Missense_Mutation_p.P117S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	210						integral component of membrane (GO:0016021)		p.P117S(1)		breast(1)|large_intestine(2)|lung(3)	6						GATCTTCCTGCCAAACGCCTT	0.572											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	11						.						148.0	150.0	150.0					11																	60543093		2203	4300	6503	60299669	SO:0001583	missense	219995	exon7			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.628C>T	11.37:g.60543093C>T	ENSP00000386022:p.Pro210Ser	1046	60299669	NM_001098835	A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173715	0.57692	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.27720	1.72;1.65;1.94	5.43	5.43	0.79202	.	1.137480	0.06514	N	0.738526	T	0.61615	0.2361	M	0.77103	2.36	0.39901	D	0.973894	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46498	-0.9187	10	0.56958	D	0.05	-15.5389	14.7453	0.69485	0.0:1.0:0.0:0.0	.	169;210	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	S	169;117;210	ENSP00000434165:P169S;ENSP00000338692:P117S;ENSP00000386022:P210S	ENSP00000338692:P117S	P	+	1	0	MS4A15	60299669	1.000000	0.71417	0.993000	0.49108	0.251000	0.25915	3.656000	0.54467	2.538000	0.85594	0.643000	0.83706	CCA		0.572	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		
MS4A10	341116	broad.mit.edu	37	11	60558512	60558512	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60558512G>A	ENST00000308287.1	+	3	345	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	83						integral component of membrane (GO:0016021)		p.K83K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CTATAGTCAAGAACCTTCACC	0.582																																					p.K83K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	11						.						136.0	134.0	135.0					11																	60558512		2203	4300	6503	60315088	SO:0001819	synonymous_variant	341116	exon3			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.249G>A	11.37:g.60558512G>A			60315088	NM_206893	B2RP45|Q96PG3	Silent	SNP	ENST00000308287.1	37	CCDS7992.1																																																																																				0.582	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395619.1	NM_206893	
CCDC86	79080	broad.mit.edu	37	11	60610023	60610023	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60610023G>T	ENST00000227520.5	+	1	480	c.426G>T	c.(424-426)aaG>aaT	p.K142N	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	142	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K142N(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CCCAGAATAAGGAGGAGCTGA	0.637																																					p.K142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	11						.						38.0	41.0	40.0					11																	60610023		2203	4298	6501	60366599	SO:0001583	missense	79080	exon1			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.426G>T	11.37:g.60610023G>T	ENSP00000227520:p.Lys142Asn		60366599	NM_024098	B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941479	0.53079	.	.	ENSG00000110104	ENST00000227520;ENST00000339492	T	0.52754	0.65	3.71	-2.41	0.06562	.	0.789446	0.11341	N	0.574012	T	0.31949	0.0813	L	0.60455	1.87	0.09310	N	0.999999	P	0.36535	0.557	B	0.32864	0.154	T	0.17684	-1.0361	10	0.28530	T	0.3	-4.0133	1.6851	0.02840	0.2871:0.1397:0.4314:0.1418	.	142	Q9H6F5	CCD86_HUMAN	N	142;106	ENSP00000227520:K142N	ENSP00000227520:K142N	K	+	3	2	CCDC86	60366599	0.002000	0.14202	0.002000	0.10522	0.037000	0.13140	-0.642000	0.05427	-0.239000	0.09710	0.561000	0.74099	AAG		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098	
ZP1	22917	broad.mit.edu	37	11	60635212	60635212	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60635212C>T	ENST00000278853.5	+	1	178	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	60					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.L60F(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCCAGACTCTCCGCTTCAA	0.677																																					p.L60F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	11						.						67.0	48.0	54.0					11																	60635212		2203	4299	6502	60391788	SO:0001583	missense	22917	exon1			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.178C>T	11.37:g.60635212C>T	ENSP00000278853:p.Leu60Phe		60391788	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104372	0.08731	.	.	ENSG00000149506	ENST00000278853	T	0.23147	1.92	3.71	-7.43	0.01383	.	1.391850	0.05101	N	0.487031	T	0.06554	0.0168	N	0.02539	-0.55	0.09310	N	0.999999	B	0.29432	0.244	B	0.26310	0.068	T	0.19128	-1.0315	10	0.09843	T	0.71	-3.5511	2.7148	0.05184	0.4574:0.1145:0.3157:0.1125	.	60	P60852	ZP1_HUMAN	F	60	ENSP00000278853:L60F	ENSP00000278853:L60F	L	+	1	0	ZP1	60391788	0.000000	0.05858	0.003000	0.11579	0.173000	0.22820	-1.206000	0.03011	-1.785000	0.01271	-1.498000	0.00962	CTC		0.677	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
ZP1	22917	broad.mit.edu	37	11	60638578	60638578	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60638578C>A	ENST00000278853.5	+	5	975	c.975C>A	c.(973-975)gtC>gtA	p.V325V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	325	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.V325V(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCGTGGTCTTCTACTTCC	0.597																																					p.V325V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C975A	11						.						106.0	95.0	99.0					11																	60638578		2203	4299	6502	60395154	SO:0001819	synonymous_variant	22917	exon5			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.975C>A	11.37:g.60638578C>A			60395154	NM_207341		Silent	SNP	ENST00000278853.5	37	CCDS31572.1																																																																																				0.597	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
TMEM109	79073	broad.mit.edu	37	11	60689289	60689289	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60689289C>T	ENST00000227525.3	+	4	787	c.384C>T	c.(382-384)gtC>gtT	p.V128V	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_Silent_p.V128V|TMEM132A_ENST00000453848.2_5'Flank	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	128					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)		p.V128V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGGCCAGGTCCAGACCTTCC	0.637																																					p.V128V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	11						.						102.0	105.0	104.0					11																	60689289		2203	4299	6502	60445865	SO:0001819	synonymous_variant	79073	exon4				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.384C>T	11.37:g.60689289C>T			60445865	NM_024092		Silent	SNP	ENST00000227525.3	37	CCDS7996.1																																																																																				0.637	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092	
TMEM132A	54972	broad.mit.edu	37	11	60704344	60704344	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60704344C>T	ENST00000453848.2	+	11	3195	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R1014C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	1013	Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R1014C(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGAGGAGCTTCGCAACTACAT	0.647																																					p.R1014C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3040T	11						.						31.0	38.0	36.0					11																	60704344		2201	4294	6495	60460920	SO:0001583	missense	54972	exon11			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.3037C>T	11.37:g.60704344C>T	ENSP00000405823:p.Arg1013Cys		60460920	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881188	0.72294	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.13538	2.59;2.58	4.55	3.56	0.40772	.	0.101149	0.41294	D	0.000905	T	0.35856	0.0946	M	0.75085	2.285	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.22487	-1.0215	10	0.87932	D	0	-16.1454	14.3582	0.66752	0.1482:0.8518:0.0:0.0	.	1013;1014	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	764;1013;1014	ENSP00000405823:R1013C;ENSP00000005286:R1014C	ENSP00000005286:R1014C	R	+	1	0	TMEM132A	60460920	0.238000	0.23825	0.998000	0.56505	0.994000	0.84299	1.069000	0.30641	2.537000	0.85549	0.655000	0.94253	CGC		0.647	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
CD5	921	broad.mit.edu	37	11	60886814	60886814	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60886814A>G	ENST00000347785.3	+	5	738	c.572A>G	c.(571-573)gAc>gGc	p.D191G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	191	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.D191G(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GAGGCCCAGGACAAGACCCAG	0.617																																					p.D191G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A572G	11						.						67.0	70.0	69.0					11																	60886814		2203	4299	6502	60643390	SO:0001583	missense	921	exon5			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.572A>G	11.37:g.60886814A>G	ENSP00000342681:p.Asp191Gly		60643390	NM_014207	A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.996321|1.996321	0.35226|0.35226	.|.	.|.	ENSG00000110448|ENSG00000110448	ENST00000347785|ENST00000544014	T|T	0.02280|0.03330	4.36|3.97	5.4|5.4	0.243|0.243	0.15503|0.15503	Speract/scavenger receptor (1);|.	0.566946|.	0.16535|.	N|.	0.210200|.	T|T	0.03871|0.03871	0.0109|0.0109	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B|.	0.28378|.	0.209|.	B|.	0.18561|.	0.022|.	T|T	0.44772|0.44772	-0.9306|-0.9306	10|7	0.66056|0.08179	D|T	0.02|0.78	-14.4616|-14.4616	7.5011|7.5011	0.27518|0.27518	0.345:0.5613:0.0938:0.0|0.345:0.5613:0.0938:0.0	.|.	191|.	P06127|.	CD5_HUMAN|.	G|A	191|160	ENSP00000342681:D191G|ENSP00000440899:T160A	ENSP00000342681:D191G|ENSP00000440899:T160A	D|T	+|+	2|1	0|0	CD5|CD5	60643390|60643390	0.040000|0.040000	0.19996|0.19996	0.002000|0.002000	0.10522|0.10522	0.016000|0.016000	0.09150|0.09150	0.688000|0.688000	0.25422|0.25422	0.028000|0.028000	0.15324|0.15324	-0.387000|-0.387000	0.06579|0.06579	GAC|ACA		0.617	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
CD5	921	broad.mit.edu	37	11	60892516	60892516	+	Missense_Mutation	SNP	G	G	A	rs139956085		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60892516G>A	ENST00000347785.3	+	9	1458	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	431					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.R431H(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTTTCCATCGCAACCACACG	0.562																																					p.R431H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	11						.	G	HIS/ARG	0,4406		0,0,2203	204.0	134.0	158.0		1292	5.1	1.0	11	dbSNP_134	158	1,8597	1.2+/-3.3	0,1,4298	no	missense	CD5	NM_014207.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	431/496	60892516	1,13003	2203	4299	6502	60649092	SO:0001583	missense	921	exon9			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1292G>A	11.37:g.60892516G>A	ENSP00000342681:p.Arg431His		60649092	NM_014207	A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271893	0.59649	0.0	1.16E-4	ENSG00000110448	ENST00000347785	T	0.30448	1.53	5.05	5.05	0.67936	.	0.000000	0.53938	D	0.000046	T	0.44498	0.1296	L	0.34521	1.04	0.42913	D	0.994269	D	0.89917	1.0	D	0.87578	0.998	T	0.43294	-0.9400	10	0.87932	D	0	-38.409	13.8954	0.63768	0.0:0.0:1.0:0.0	.	431	P06127	CD5_HUMAN	H	431	ENSP00000342681:R431H	ENSP00000342681:R431H	R	+	2	0	CD5	60649092	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	5.137000	0.64789	2.356000	0.79943	0.462000	0.41574	CGC		0.562	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
VPS37C	55048	broad.mit.edu	37	11	60901570	60901570	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:60901570G>A	ENST00000301765.5	-	3	435	c.203C>T	c.(202-204)tCg>tTg	p.S68L		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	68					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)		p.S68L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTATCTATCCGAGAGGTTTGA	0.612																																					p.S68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	11						.						73.0	75.0	74.0					11																	60901570		2203	4299	6502	60658146	SO:0001583	missense	55048	exon3			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.203C>T	11.37:g.60901570G>A	ENSP00000301765:p.Ser68Leu		60658146	NM_017966	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432421	0.25813	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.76968	-1.06;-1.06	5.3	4.19	0.49359	Modifier of rudimentary, Modr (1);	0.232990	0.37348	N	0.002124	T	0.58935	0.2157	N	0.17474	0.49	0.33019	D	0.528575	B;B	0.30973	0.302;0.056	B;B	0.18871	0.023;0.016	T	0.65384	-0.6181	10	0.24483	T	0.36	-16.1477	13.0898	0.59160	0.0887:0.0:0.9113:0.0	.	68;68	B4DYD9;A5D8V6	.;VP37C_HUMAN	L	68	ENSP00000301765:S68L;ENSP00000446013:S68L	ENSP00000301765:S68L	S	-	2	0	VPS37C	60658146	0.976000	0.34144	0.948000	0.38648	0.274000	0.26718	1.799000	0.38824	2.496000	0.84212	0.491000	0.48974	TCG		0.612	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
DDB1	1642	broad.mit.edu	37	11	61089810	61089810	+	Silent	SNP	G	G	A	rs146385795		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61089810G>A	ENST00000301764.7	-	9	1477	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	360	Interaction with CDT1.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.V360V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CGCACATATCGACAATGGGTC	0.473								Nucleotide excision repair (NER)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		19766	0.0		0.0	False		,,,				2504	0.0				p.V360V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080T	11						.	G		1,4405	2.1+/-5.4	0,1,2202	157.0	132.0	141.0		1080	2.4	1.0	11	dbSNP_134	141	0,8598		0,0,4299	no	coding-synonymous	DDB1	NM_001923.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		360/1141	61089810	1,13003	2203	4299	6502	60846386	SO:0001819	synonymous_variant	1642	exon9			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1080C>T	11.37:g.61089810G>A			60846386	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.473	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
DDB1	1642	broad.mit.edu	37	11	61090520	61090520	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61090520A>C	ENST00000301764.7	-	8	1365	c.968T>G	c.(967-969)tTt>tGt	p.F323C	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	323	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.F323C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGACCCGACAAACACAACACC	0.448								Nucleotide excision repair (NER)																													p.F323C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T968G	11						.						101.0	84.0	90.0					11																	61090520		2203	4299	6502	60847096	SO:0001583	missense	1642	exon8			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.968T>G	11.37:g.61090520A>C	ENSP00000301764:p.Phe323Cys		60847096	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303550	0.81136	.	.	ENSG00000167986	ENST00000301764;ENST00000539739;ENST00000535174;ENST00000541513	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.66	5.66	0.87406	.	0.047947	0.85682	D	0.000000	T	0.70945	0.3282	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.965;0.997	T	0.75614	-0.3257	10	0.87932	D	0	-16.1257	15.9004	0.79369	1.0:0.0:0.0:0.0	.	323;323;323	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	C	323;42;106;138	ENSP00000301764:F323C;ENSP00000445563:F42C;ENSP00000446044:F106C;ENSP00000442660:F138C	ENSP00000301764:F323C	F	-	2	0	DDB1	60847096	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.102000	0.77005	2.167000	0.68274	0.533000	0.62120	TTT		0.448	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
TMEM138	51524	broad.mit.edu	37	11	61133520	61133520	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61133520C>A	ENST00000278826.6	+	3	691	c.132C>A	c.(130-132)atC>atA	p.I44I	TMEM138_ENST00000542946.1_Silent_p.I44I|TMEM138_ENST00000381787.2_5'UTR|TMEM138_ENST00000540194.1_3'UTR	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	44					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)		p.I44I(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						TCTACAGCATCCAGGATATTG	0.468																																					p.I44I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132A	11						.						243.0	224.0	231.0					11																	61133520		2203	4299	6502	60890096	SO:0001819	synonymous_variant	51524	exon3			AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.132C>A	11.37:g.61133520C>A			60890096	NM_016464	A6NGA7|B4E044|Q5JPE1	Silent	SNP	ENST00000278826.6	37	CCDS8005.1																																																																																				0.468	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398399.2	NM_016464	
CPSF7	79869	broad.mit.edu	37	11	61183740	61183740	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61183740G>A	ENST00000394888.4	-	6	974	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	CPSF7_ENST00000439958.3_Missense_Mutation_p.P259S|CPSF7_ENST00000340437.4_Missense_Mutation_p.P311S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P259S	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	268	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P268S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGAGGTGGGGGCATGAGATGC	0.612																																					p.P268S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C802T	11						.						51.0	55.0	53.0					11																	61183740		2202	4299	6501	60940316	SO:0001583	missense	79869	exon6				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.802C>T	11.37:g.61183740G>A	ENSP00000378352:p.Pro268Ser		60940316	NM_001136040	B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647690	0.67358	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000539952	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.29	5.29	0.74685	.	0.064918	0.64402	D	0.000007	T	0.80874	0.4707	L	0.28400	0.85	0.80722	D	1	B;B;B;B	0.21606	0.035;0.02;0.058;0.034	B;B;B;B	0.25291	0.012;0.011;0.059;0.025	T	0.75396	-0.3332	10	0.23302	T	0.38	-4.5797	15.0193	0.71617	0.0:0.1427:0.8573:0.0	.	259;268;311;259	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	S	311;268;259;259;34;259	ENSP00000345412:P311S;ENSP00000378352:P268S;ENSP00000397203:P259S;ENSP00000407394:P259S	ENSP00000345412:P311S	P	-	1	0	CPSF7	60940316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.109000	0.50345	2.465000	0.83290	0.650000	0.86243	CCC		0.612	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811	
SDHAF2	54949	broad.mit.edu	37	11	61205131	61205131	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61205131C>A	ENST00000543265.1	+	2	74	c.71C>A	c.(70-72)cCt>cAt	p.P24H	SDHAF2_ENST00000534878.1_Missense_Mutation_p.P24H|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000301761.2_Missense_Mutation_p.P24H|SDHAF2_ENST00000537782.1_Missense_Mutation_p.P24H|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P12H					succinate dehydrogenase complex assembly factor 2									p.P24H(1)		large_intestine(3)|lung(4)|ovary(2)	9						CTATTGTCTCCTTTGCTCAGT	0.433																																					p.P24H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C71A	11						.						200.0	196.0	197.0					11																	61205131		2202	4299	6501	60961707	SO:0001583	missense	54949	exon2			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000543265.1:c.71C>A	11.37:g.61205131C>A	ENSP00000443660:p.Pro24His		60961707	NM_017841		Missense_Mutation	SNP	ENST00000543265.1	37		.	.	.	.	.	.	.	.	.	.	C	18.46	3.628788	0.67015	.	.	ENSG00000256591;ENSG00000167985;ENSG00000167985	ENST00000541135;ENST00000301761;ENST00000543265	T;T;T	0.79749	-1.2;-1.13;-1.3	5.65	4.74	0.60224	.	0.101972	0.64402	D	0.000001	T	0.74943	0.3783	M	0.63428	1.95	0.34193	D	0.672257	B	0.21821	0.061	B	0.20767	0.031	T	0.76537	-0.2923	10	0.41790	T	0.15	-14.3468	7.0779	0.25215	0.1706:0.745:0.0:0.0844	.	24	Q9NX18	SDHF2_HUMAN	H	24	ENSP00000443130:P24H;ENSP00000301761:P24H;ENSP00000443660:P24H	ENSP00000440939:P24H	P	+	2	0	SDHAF2;RP11-286N22.8	60961707	0.362000	0.24980	0.492000	0.27490	0.180000	0.23129	2.567000	0.45956	1.620000	0.50308	0.655000	0.94253	CCT		0.433	SDHAF2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398484.1	NM_017841	
PPP1R32	220004	broad.mit.edu	37	11	61249334	61249334	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61249334C>T	ENST00000338608.2	+	2	178	c.53C>T	c.(52-54)tCg>tTg	p.S18L	RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.S18L|RP11-286N22.8_ENST00000543044.1_3'UTR	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	18							phosphatase binding (GO:0019902)	p.S18L(1)									AAGATGAGTTCGGGGGGCTAC	0.627																																					p.S18L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	11						.						33.0	35.0	34.0					11																	61249334		2202	4299	6501	61005910	SO:0001583	missense	220004	exon2			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.53C>T	11.37:g.61249334C>T	ENSP00000344140:p.Ser18Leu		61005910	NM_145017	Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941536	0.73557	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.46451	0.87;1.44	4.9	3.97	0.46021	.	0.131532	0.34700	N	0.003758	T	0.50120	0.1597	L	0.48877	1.53	0.80722	D	1	P;D	0.89917	0.757;1.0	B;D	0.83275	0.135;0.996	T	0.39663	-0.9603	10	0.09084	T	0.74	-11.93	10.8813	0.46939	0.0:0.9073:0.0:0.0927	.	18;18	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	L	18	ENSP00000391560:S18L;ENSP00000344140:S18L	ENSP00000344140:S18L	S	+	2	0	C11orf66	61005910	0.983000	0.35010	0.979000	0.43373	0.996000	0.88848	2.681000	0.46926	2.278000	0.76064	0.511000	0.50034	TCG		0.627	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017	
MYRF	745	broad.mit.edu	37	11	61541497	61541497	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61541497G>A	ENST00000278836.5	+	8	1270	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.D19N|MYRF_ENST00000265460.5_Missense_Mutation_p.D383N	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	392					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D383N(1)									GGTGGGCGACGACGCCTTTGT	0.642																																					p.D383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147A	11						.						80.0	67.0	72.0					11																	61541497		2202	4299	6501	61298073	SO:0001583	missense	745	exon8				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1174G>A	11.37:g.61541497G>A	ENSP00000278836:p.Asp392Asn		61298073	NM_013279	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066422	0.76187	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.42131	1.55;1.55;0.98	4.43	4.43	0.53597	NDT80 DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);	0.124581	0.56097	D	0.000023	T	0.43389	0.1245	L	0.59436	1.845	0.80722	D	1	P;B	0.42357	0.777;0.414	B;B	0.40444	0.329;0.126	T	0.45071	-0.9286	10	0.39692	T	0.17	-27.6325	17.6067	0.88040	0.0:0.0:1.0:0.0	.	383;392	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	N	392;383;19	ENSP00000278836:D392N;ENSP00000265460:D383N;ENSP00000333261:D19N	ENSP00000265460:D383N	D	+	1	0	C11orf9	61298073	1.000000	0.71417	0.971000	0.41717	0.525000	0.34531	9.204000	0.95041	2.484000	0.83849	0.462000	0.41574	GAC		0.642	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279	
FEN1	2237	broad.mit.edu	37	11	61563819	61563819	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61563819G>A	ENST00000305885.2	+	2	1399	c.986G>A	c.(985-987)aGt>aAt	p.S329N	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1									p.S329N(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AAGAGGCTGAGTAAGAGCCGC	0.552								Editing and processing nucleases																													p.S329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G986A	11						.						37.0	40.0	39.0					11																	61563819		2202	4299	6501	61320395	SO:0001583	missense	2237	exon2			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.986G>A	11.37:g.61563819G>A	ENSP00000305480:p.Ser329Asn		61320395	NM_004111		Missense_Mutation	SNP	ENST00000305885.2	37	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549212	0.27652	.	.	ENSG00000168496	ENST00000305885	T	0.29397	1.57	5.44	3.56	0.40772	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.431794	0.27841	N	0.017629	T	0.18130	0.0435	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07158	-1.0787	10	0.15499	T	0.54	-16.621	6.4987	0.22155	0.2129:0.1305:0.6566:0.0	.	329	P39748	FEN1_HUMAN	N	329	ENSP00000305480:S329N	ENSP00000305480:S329N	S	+	2	0	FEN1	61320395	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.033000	0.49743	0.768000	0.33290	0.561000	0.74099	AGT		0.552	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111	
SCGB1D1	10648	broad.mit.edu	37	11	61960885	61960885	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:61960885G>T	ENST00000306238.3	+	3	327	c.258G>T	c.(256-258)gaG>gaT	p.E86D		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	86						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.E86D(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						AAATAGCAGAGAAATGTGATC	0.413																																					p.E86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	11						.						160.0	150.0	153.0					11																	61960885		2202	4299	6501	61717461	SO:0001583	missense	10648	exon3			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.258G>T	11.37:g.61960885G>T	ENSP00000303070:p.Glu86Asp		61717461	NM_006552		Missense_Mutation	SNP	ENST00000306238.3	37	CCDS8015.1	.	.	.	.	.	.	.	.	.	.	G	2.153	-0.394026	0.04899	.	.	ENSG00000168515	ENST00000306238	T	0.14144	2.53	2.72	-3.59	0.04583	.	4.184240	0.01265	U	0.009294	T	0.07593	0.0191	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21724	-1.0237	9	0.35671	T	0.21	.	0.2403	0.00191	0.2367:0.167:0.2575:0.3388	.	86	O95968	SG1D1_HUMAN	D	86	ENSP00000303070:E86D	ENSP00000303070:E86D	E	+	3	2	SCGB1D1	61717461	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.033000	0.01425	-0.924000	0.03780	-0.282000	0.10007	GAG		0.413	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552	
AHNAK	79026	broad.mit.edu	37	11	62286253	62286253	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62286253G>A	ENST00000378024.4	-	5	15910	c.15636C>T	c.(15634-15636)gtC>gtT	p.V5212V	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5212					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V5212V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACGCTGGGGACATCACCCT	0.483																																					p.V5212V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C15636T	11						.						100.0	88.0	92.0					11																	62286253		2202	4299	6501	62042829	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15636C>T	11.37:g.62286253G>A			62042829	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62286315	62286315	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62286315G>A	ENST00000378024.4	-	5	15848	c.15574C>T	c.(15574-15576)Cct>Tct	p.P5192S	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5192					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P5192S(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGACTTGAGGGGCAGAAATG	0.502																																					p.P5192S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15574T	11						.						89.0	83.0	85.0					11																	62286315		2202	4299	6501	62042891	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15574C>T	11.37:g.62286315G>A	ENSP00000367263:p.Pro5192Ser		62042891	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540372	0.45176	.	.	ENSG00000124942	ENST00000378024	T	0.04654	3.58	4.84	3.92	0.45320	.	0.138507	0.33272	N	0.005092	T	0.18087	0.0434	M	0.88105	2.93	0.41929	D	0.990553	P	0.41345	0.746	P	0.49451	0.611	T	0.02437	-1.1159	10	0.51188	T	0.08	-3.1713	14.4349	0.67274	0.0:0.0:0.8512:0.1488	.	5192	Q09666	AHNK_HUMAN	S	5192	ENSP00000367263:P5192S	ENSP00000367263:P5192S	P	-	1	0	AHNAK	62042891	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	3.346000	0.52190	1.142000	0.42291	0.643000	0.83706	CCT		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62286994	62286994	+	Silent	SNP	G	G	A	rs537813230		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62286994G>A	ENST00000378024.4	-	5	15169	c.14895C>T	c.(14893-14895)atC>atT	p.I4965I	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4965					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.I4965I(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCCCTTCGATGTTAATAT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19357	0.0		0.0	False		,,,				2504	0.001				p.I4965I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C14895T	11						.						91.0	89.0	90.0					11																	62286994		2202	4299	6501	62043570	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14895C>T	11.37:g.62286994G>A			62043570	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62290273	62290273	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62290273C>A	ENST00000378024.4	-	5	11890	c.11616G>T	c.(11614-11616)aaG>aaT	p.K3872N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3872					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K3872N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGGAGATCTTGGGGGCTT	0.463																																					p.K3872N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11616T	11						.						224.0	232.0	230.0					11																	62290273		2202	4299	6501	62046849	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11616G>T	11.37:g.62290273C>A	ENSP00000367263:p.Lys3872Asn		62046849	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	14.57	2.575459	0.45902	.	.	ENSG00000124942	ENST00000378024	T	0.01252	5.1	4.48	3.57	0.40892	.	0.000000	0.43260	D	0.000588	T	0.03695	0.0105	M	0.88906	2.99	0.42482	D	0.99286	B	0.27316	0.175	B	0.27887	0.084	T	0.09487	-1.0672	10	0.51188	T	0.08	.	10.4956	0.44775	0.0:0.9084:0.0:0.0916	.	3872	Q09666	AHNK_HUMAN	N	3872	ENSP00000367263:K3872N	ENSP00000367263:K3872N	K	-	3	2	AHNAK	62046849	0.008000	0.16893	0.998000	0.56505	0.918000	0.54935	-1.043000	0.03535	1.130000	0.42092	0.537000	0.68136	AAG		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62290725	62290725	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62290725C>T	ENST00000378024.4	-	5	11438	c.11164G>A	c.(11164-11166)Gaa>Aaa	p.E3722K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3722					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E3722K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGAGCCTTCGATGTTAATG	0.458																																					p.E3722K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11164A	11						.						131.0	139.0	136.0					11																	62290725		2202	4299	6501	62047301	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11164G>A	11.37:g.62290725C>T	ENSP00000367263:p.Glu3722Lys		62047301	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	15.45	2.838388	0.51057	.	.	ENSG00000124942	ENST00000378024	T	0.05786	3.39	5.32	4.35	0.52113	.	0.608457	0.13581	N	0.377359	T	0.19604	0.0471	M	0.73430	2.235	0.39039	D	0.960091	D	0.76494	0.999	D	0.74023	0.982	T	0.02625	-1.1132	10	0.17369	T	0.5	.	8.7771	0.34769	0.0:0.7676:0.1525:0.0798	.	3722	Q09666	AHNK_HUMAN	K	3722	ENSP00000367263:E3722K	ENSP00000367263:E3722K	E	-	1	0	AHNAK	62047301	0.447000	0.25673	0.946000	0.38457	0.071000	0.16799	0.417000	0.21214	2.492000	0.84095	0.579000	0.79373	GAA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62293792	62293792	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62293792C>A	ENST00000378024.4	-	5	8371	c.8097G>T	c.(8095-8097)gaG>gaT	p.E2699D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2699					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.E2699D(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATATTCATCTCTGGCATCT	0.453																																					p.E2699D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8097T	11						.						191.0	189.0	189.0					11																	62293792		2202	4299	6501	62050368	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8097G>T	11.37:g.62293792C>A	ENSP00000367263:p.Glu2699Asp		62050368	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	7.613	0.675144	0.14841	.	.	ENSG00000124942	ENST00000378024	T	0.03004	4.08	4.61	-4.26	0.03755	.	.	.	.	.	T	0.04137	0.0115	N	0.13272	0.32	0.09310	N	1	D	0.67145	0.996	D	0.77557	0.99	T	0.34304	-0.9834	9	0.15499	T	0.54	-3.8156	1.9367	0.03338	0.1118:0.2704:0.3315:0.2862	.	2699	Q09666	AHNK_HUMAN	D	2699	ENSP00000367263:E2699D	ENSP00000367263:E2699D	E	-	3	2	AHNAK	62050368	0.000000	0.05858	0.007000	0.13788	0.732000	0.41865	-9.647000	0.00010	-0.428000	0.07339	0.473000	0.43528	GAG		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62296327	62296327	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62296327C>A	ENST00000378024.4	-	5	5836	c.5562G>T	c.(5560-5562)aaG>aaT	p.K1854N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1854					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K1854N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGGAGATCTTGGGGGCCT	0.522																																					p.K1854N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5562T	11						.						193.0	204.0	201.0					11																	62296327		2202	4297	6499	62052903	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5562G>T	11.37:g.62296327C>A	ENSP00000367263:p.Lys1854Asn		62052903	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	8.185	0.794700	0.16327	.	.	ENSG00000124942	ENST00000378024	T	0.01379	4.96	3.04	3.04	0.35103	.	0.000000	0.42294	D	0.000731	T	0.08133	0.0203	M	0.93978	3.48	0.26841	N	0.968378	D	0.71674	0.998	D	0.64321	0.924	T	0.11641	-1.0579	10	0.25106	T	0.35	.	7.5486	0.27781	0.0:0.8697:0.0:0.1303	.	1854	Q09666	AHNK_HUMAN	N	1854	ENSP00000367263:K1854N	ENSP00000367263:K1854N	K	-	3	2	AHNAK	62052903	0.852000	0.29690	0.782000	0.31804	0.027000	0.11550	-0.100000	0.10990	1.394000	0.46624	0.205000	0.17691	AAG		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62297539	62297539	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62297539C>A	ENST00000378024.4	-	5	4624	c.4350G>T	c.(4348-4350)aaG>aaT	p.K1450N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1450					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K1450N(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTATGGATATCTTCTGAGGCT	0.378																																					p.K1450N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4350T	11						.						193.0	202.0	199.0					11																	62297539		2202	4299	6501	62054115	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4350G>T	11.37:g.62297539C>A	ENSP00000367263:p.Lys1450Asn		62054115	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	10.39	1.337219	0.24253	.	.	ENSG00000124942	ENST00000378024	T	0.01252	5.1	4.38	3.45	0.39498	.	.	.	.	.	T	0.05686	0.0149	M	0.88377	2.95	0.28658	N	0.906276	P	0.46142	0.873	P	0.50352	0.638	T	0.02983	-1.1086	9	0.48119	T	0.1	.	8.5657	0.33538	0.0:0.8177:0.0:0.1823	.	1450	Q09666	AHNK_HUMAN	N	1450	ENSP00000367263:K1450N	ENSP00000367263:K1450N	K	-	3	2	AHNAK	62054115	0.876000	0.30132	0.994000	0.49952	0.076000	0.17211	0.878000	0.28126	2.007000	0.58848	0.550000	0.68814	AAG		0.378	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62297650	62297650	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62297650G>A	ENST00000378024.4	-	5	4513	c.4239C>T	c.(4237-4239)gtC>gtT	p.V1413V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1413					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V1413V(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGTCCTGAGACATCAACGT	0.468																																					p.V1413V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4239T	11						.						191.0	204.0	200.0					11																	62297650		2202	4299	6501	62054226	SO:0001819	synonymous_variant	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4239C>T	11.37:g.62297650G>A			62054226	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62299529	62299529	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62299529A>C	ENST00000378024.4	-	5	2634	c.2360T>G	c.(2359-2361)gTt>gGt	p.V787G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	787					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V787G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGAGCAGTAACATCTATCTT	0.498																																					p.V787G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2360G	11						.						137.0	142.0	141.0					11																	62299529		2202	4299	6501	62056105	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2360T>G	11.37:g.62299529A>C	ENSP00000367263:p.Val787Gly		62056105	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455937	0.26161	.	.	ENSG00000124942	ENST00000378024	T	0.01228	5.14	5.46	5.46	0.80206	.	0.361502	0.19065	N	0.123669	T	0.08313	0.0207	M	0.86097	2.795	0.09310	N	0.999993	D	0.61697	0.99	D	0.64042	0.921	T	0.27400	-1.0075	10	0.25106	T	0.35	-7.0466	14.3616	0.66776	1.0:0.0:0.0:0.0	.	787	Q09666	AHNK_HUMAN	G	787	ENSP00000367263:V787G	ENSP00000367263:V787G	V	-	2	0	AHNAK	62056105	0.140000	0.22579	0.003000	0.11579	0.138000	0.21146	2.458000	0.45014	2.085000	0.62840	0.374000	0.22700	GTT		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62303454	62303454	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62303454C>A	ENST00000378024.4	-	3	391	c.117G>T	c.(115-117)caG>caT	p.Q39H	AHNAK_ENST00000257247.7_Missense_Mutation_p.Q39H|AHNAK_ENST00000530124.1_Missense_Mutation_p.Q39H|RP11-864I4.3_ENST00000544108.1_RNA	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	39	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.Q39H(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGGGAGTTCTGCGTCACCT	0.682																																					p.Q39H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G117T	11						.						59.0	56.0	57.0					11																	62303454		2202	4299	6501	62060030	SO:0001583	missense	79026	exon3			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.117G>T	11.37:g.62303454C>A	ENSP00000367263:p.Gln39His		62060030	NM_024060	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476433	0.63737	.	.	ENSG00000124942	ENST00000530124;ENST00000257247;ENST00000533365;ENST00000378024;ENST00000530285;ENST00000528508;ENST00000531324	T;T;T;T;T;T;T	0.41758	1.69;1.69;1.69;0.99;1.69;1.69;1.69	5.36	4.43	0.53597	PDZ/DHR/GLGF (3);	0.485483	0.16646	U	0.205411	T	0.35537	0.0935	L	0.29908	0.895	0.23023	N	0.998414	P;P	0.41569	0.755;0.602	B;B	0.44224	0.444;0.353	T	0.18967	-1.0320	10	0.72032	D	0.01	-2.2412	9.0778	0.36534	0.0:0.7678:0.151:0.0812	.	39;39	Q09666;A1A586	AHNK_HUMAN;.	H	39	ENSP00000433789:Q39H;ENSP00000257247:Q39H;ENSP00000433635:Q39H;ENSP00000367263:Q39H;ENSP00000433286:Q39H;ENSP00000435357:Q39H;ENSP00000436845:Q39H	ENSP00000257247:Q39H	Q	-	3	2	AHNAK	62060030	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.526000	0.22971	1.221000	0.43506	0.655000	0.94253	CAG		0.682	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
B3GAT3	26229	broad.mit.edu	37	11	62384514	62384514	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62384514C>A	ENST00000265471.5	-	3	790	c.563G>T	c.(562-564)gGa>gTa	p.G188V	B3GAT3_ENST00000531383.1_Missense_Mutation_p.G188V|B3GAT3_ENST00000534026.1_Missense_Mutation_p.G188V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	188					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)	p.G188V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GTAGACGACTCCTTGGGTCCC	0.647																																					p.G188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563T	11						.						114.0	115.0	115.0					11																	62384514		2202	4299	6501	62141090	SO:0001583	missense	26229	exon3			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.563G>T	11.37:g.62384514C>A	ENSP00000265471:p.Gly188Val		62141090	NM_012200	B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	c	19.92	3.915899	0.73098	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.56	5.56	0.83823	.	0.159130	0.56097	N	0.000039	D	0.96744	0.8937	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97623	1.0137	10	0.87932	D	0	.	17.0258	0.86446	0.0:1.0:0.0:0.0	.	188;194;188	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	V	188;188;188;211	ENSP00000265471:G188V;ENSP00000431359:G188V;ENSP00000432474:G188V;ENSP00000432854:G211V	ENSP00000265471:G188V	G	-	2	0	B3GAT3	62141090	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	3.026000	0.49689	2.616000	0.88540	0.556000	0.70494	GGA		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200	
NXF1	10482	broad.mit.edu	37	11	62566033	62566033	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62566033C>T	ENST00000532297.1	-	12	1660	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	NXF1_ENST00000294172.2_Missense_Mutation_p.R344Q|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	344					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R344Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGGGAAATCGTTCGCGAAT	0.473																																					p.R344Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031A	11						.						143.0	135.0	137.0					11																	62566033		2201	4299	6500	62322609	SO:0001583	missense	10482	exon11			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1031G>A	11.37:g.62566033C>T	ENSP00000436679:p.Arg344Gln		62322609	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260539	0.80246	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.41400	1.0;1.0;1.0	5.77	5.77	0.91146	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.058428	0.64402	D	0.000002	T	0.58963	0.2159	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.987;0.998	B;P	0.51974	0.382;0.686	T	0.59037	-0.7529	10	0.30854	T	0.27	-2.9944	17.535	0.87827	0.0:1.0:0.0:0.0	.	387;344	E9PIN3;Q9UBU9	.;NXF1_HUMAN	Q	344;344;387	ENSP00000294172:R344Q;ENSP00000436679:R344Q;ENSP00000435742:R387Q	ENSP00000294172:R344Q	R	-	2	0	NXF1	62322609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.356000	0.59430	2.751000	0.94390	0.650000	0.86243	CGA		0.473	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
SLC22A6	9356	broad.mit.edu	37	11	62747001	62747001	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62747001G>A	ENST00000377871.3	-	8	1586	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	SLC22A6_ENST00000421062.2_Silent_p.C440C|SLC22A6_ENST00000360421.4_Silent_p.C440C|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Silent_p.C440C	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	440					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.C440C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACAGGAAGATGCAGTTGAAGG	0.517																																					p.C440C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1320T	11						.						80.0	69.0	73.0					11																	62747001		2201	4298	6499	62503577	SO:0001819	synonymous_variant	9356	exon8			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1320C>T	11.37:g.62747001G>A			62503577	NM_004790	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.517	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790	
SLC22A25	387601	broad.mit.edu	37	11	62995978	62995978	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62995978G>T	ENST00000403374.2	-	0	8				SLC22A25_ENST00000306494.6_Missense_Mutation_p.A154D|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron					solute carrier family 22, member 25									p.A154D(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATCATTCCAGCCATGAATAG	0.423																																					p.A154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461A	11						.						112.0	101.0	105.0					11																	62995978		2201	4298	6499	62752554			387601	exon2			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000403374.2:c.-296C>A	11.37:g.62995978G>T			62752554	NM_199352		Missense_Mutation	SNP	ENST00000403374.2	37		.	.	.	.	.	.	.	.	.	.	G	13.92	2.380181	0.42207	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.78707	-1.2	3.47	-3.8	0.04307	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.269718	0.34932	U	0.003569	D	0.84311	0.5444	M	0.89163	3.01	0.09310	N	0.999996	D;D	0.59357	0.985;0.958	D;P	0.69142	0.962;0.821	T	0.75396	-0.3332	10	0.72032	D	0.01	.	5.2475	0.15504	0.4171:0.1451:0.4378:0.0	.	152;154	A4IF29;Q6T423	.;S22AP_HUMAN	D	154	ENSP00000307443:A154D	ENSP00000307443:A154D	A	-	2	0	SLC22A25	62752554	0.733000	0.28132	0.001000	0.08648	0.017000	0.09413	0.082000	0.14847	-0.555000	0.06142	0.478000	0.44815	GCT		0.423	SLC22A25-201	KNOWN	basic	protein_coding	protein_coding		NM_199352	
SLC22A25	387601	broad.mit.edu	37	11	62997109	62997109	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62997109G>T	ENST00000306494.6	-	1	15	c.16C>A	c.(16-18)Ctc>Atc	p.L6I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.L6I(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGATCTAGGAGGTCCTGAAAG	0.418																																					p.L6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C16A	11						.						42.0	46.0	45.0					11																	62997109		2201	4298	6499	62753685	SO:0001583	missense	387601	exon1			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.16C>A	11.37:g.62997109G>T	ENSP00000307443:p.Leu6Ile		62753685	NM_199352		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515822	0.27123	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.39787	1.06	3.98	3.02	0.34903	.	0.069188	0.64402	D	0.000015	T	0.59169	0.2174	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.91635	0.922;0.999	T	0.59440	-0.7454	10	0.56958	D	0.05	.	10.8623	0.46833	0.0:0.0:0.8098:0.1902	.	4;6	A4IF29;Q6T423	.;S22AP_HUMAN	I	6	ENSP00000307443:L6I	ENSP00000307443:L6I	L	-	1	0	SLC22A25	62753685	0.977000	0.34250	0.015000	0.15790	0.157000	0.22087	1.770000	0.38532	0.741000	0.32674	0.472000	0.43445	CTC		0.418	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
LGALS12	85329	broad.mit.edu	37	11	63283095	63283095	+	Silent	SNP	C	C	T	rs36007310	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63283095C>T	ENST00000394618.3	+	8	1065	c.774C>T	c.(772-774)ttC>ttT	p.F258F	LGALS12_ENST00000255684.5_Silent_p.F249F|LGALS12_ENST00000415491.2_Silent_p.F197F|LGALS12_ENST00000340246.5_Silent_p.F259F|LGALS12_ENST00000425950.2_Silent_p.F188F	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	258	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.F258F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GGGCCTCCTTCGCAGACAGAA	0.567													C|||	16	0.00319489	0.0121	0.0	5008	,	,		20315	0.0		0.0	False		,,,				2504	0.0				p.F249F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747T	11						.	C	,,,,	48,4354	50.2+/-85.5	0,48,2153	68.0	65.0	66.0		777,747,591,564,774	1.8	0.4	11	dbSNP_126	66	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LGALS12	NM_001142535.1,NM_001142536.1,NM_001142537.1,NM_001142538.1,NM_033101.3	,,,,	0,48,6451	TT,TC,CC		0.0,1.0904,0.3693	,,,,	259/338,249/328,197/276,188/267,258/337	63283095	48,12950	2201	4298	6499	63039671	SO:0001819	synonymous_variant	85329	exon7			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.774C>T	11.37:g.63283095C>T			63039671	NM_001142536	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000394618.3	37	CCDS8045.1																																																																																				0.567	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	
RTN3	10313	broad.mit.edu	37	11	63486240	63486240	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63486240C>A	ENST00000377819.5	+	3	420	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.S70Y|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	89					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S70Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTTCTTTCATCTTCTGAAATA	0.368																																					p.S70Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209A	11						.						48.0	46.0	47.0					11																	63486240		2201	4298	6499	63242816	SO:0001583	missense	10313	exon2			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.266C>A	11.37:g.63486240C>A	ENSP00000367050:p.Ser89Tyr		63242816	NM_201428	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051361	0.55218	.	.	ENSG00000133318	ENST00000377819;ENST00000339997	T;T	0.35605	1.3;1.32	5.3	4.37	0.52481	.	0.324031	0.22726	N	0.056387	T	0.47820	0.1466	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.48103	-0.9064	10	0.87932	D	0	-9.3634	11.9164	0.52767	0.0:0.8245:0.1755:0.0	.	89;70	O95197;O95197-2	RTN3_HUMAN;.	Y	89;70	ENSP00000367050:S89Y;ENSP00000344106:S70Y	ENSP00000344106:S70Y	S	+	2	0	RTN3	63242816	0.990000	0.36364	0.999000	0.59377	0.903000	0.53119	2.044000	0.41241	1.197000	0.43143	0.591000	0.81541	TCT		0.368	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
RTN3	10313	broad.mit.edu	37	11	63488381	63488381	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63488381C>A	ENST00000377819.5	+	3	2561	c.2407C>A	c.(2407-2409)Ctt>Att	p.L803I	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.L691I|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.L784I|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	803					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L784I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGATCTGATCTTGGGATTTC	0.418																																					p.L784I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2350A	11						.						71.0	71.0	71.0					11																	63488381		2201	4298	6499	63244957	SO:0001583	missense	10313	exon2			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2407C>A	11.37:g.63488381C>A	ENSP00000367050:p.Leu803Ile		63244957	NM_201428	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424747	0.62733	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.32753	1.44;1.45;1.48	5.67	4.74	0.60224	.	2.937730	0.01078	N	0.004935	T	0.41903	0.1179	L	0.32530	0.975	0.80722	D	1	D;D;D	0.59767	0.986;0.976;0.986	P;P;P	0.56163	0.793;0.626;0.793	T	0.31861	-0.9928	10	0.13853	T	0.58	-13.6471	12.8375	0.57782	0.0:0.8359:0.1641:0.0	.	691;803;784	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	I	803;784;691	ENSP00000367050:L803I;ENSP00000344106:L784I;ENSP00000442733:L691I	ENSP00000344106:L784I	L	+	1	0	RTN3	63244957	0.999000	0.42202	0.996000	0.52242	0.819000	0.46315	0.475000	0.22164	1.495000	0.48549	0.655000	0.94253	CTT		0.418	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
MARK2	2011	broad.mit.edu	37	11	63667414	63667414	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63667414C>T	ENST00000509502.2	+	8	964	c.501C>T	c.(499-501)ttC>ttT	p.F167F	MARK2_ENST00000361128.5_Silent_p.F200F|MARK2_ENST00000350490.7_Silent_p.F200F|MARK2_ENST00000513765.2_Silent_p.F167F|MARK2_ENST00000413835.2_Silent_p.F200F|MARK2_ENST00000425897.2_Silent_p.F167F|MARK2_ENST00000377810.3_Silent_p.F167F|MARK2_ENST00000402010.2_Silent_p.F200F|MARK2_ENST00000408948.3_Silent_p.F167F|MARK2_ENST00000502399.3_Silent_p.F200F|MARK2_ENST00000377809.4_Silent_p.F200F|MARK2_ENST00000315032.8_Silent_p.F200F|MARK2_ENST00000508192.1_Silent_p.F200F	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.F167F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAATGAATTCACCTTTGGGA	0.488																																					p.F167F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	11						.						156.0	150.0	152.0					11																	63667414		2201	4297	6498	63423990	SO:0001819	synonymous_variant	2011	exon8			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.501C>T	11.37:g.63667414C>T			63423990	NM_017490		Silent	SNP	ENST00000509502.2	37	CCDS41665.1																																																																																				0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490	
MARK2	2011	broad.mit.edu	37	11	63668075	63668075	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63668075C>A	ENST00000509502.2	+	9	1177	c.714C>A	c.(712-714)ttC>ttA	p.F238L	MARK2_ENST00000361128.5_Missense_Mutation_p.F271L|MARK2_ENST00000350490.7_Missense_Mutation_p.F271L|MARK2_ENST00000513765.2_Missense_Mutation_p.F238L|MARK2_ENST00000413835.2_Missense_Mutation_p.F271L|MARK2_ENST00000425897.2_Missense_Mutation_p.F238L|MARK2_ENST00000377810.3_Missense_Mutation_p.F238L|MARK2_ENST00000402010.2_Missense_Mutation_p.F271L|MARK2_ENST00000408948.3_Missense_Mutation_p.F238L|MARK2_ENST00000502399.3_Missense_Mutation_p.F271L|MARK2_ENST00000377809.4_Missense_Mutation_p.F271L|MARK2_ENST00000315032.8_Missense_Mutation_p.F271L|MARK2_ENST00000508192.1_Missense_Mutation_p.F271L	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.F238L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTATTCCATTCTACATGTCCA	0.488																																					p.F238L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C714A	11						.						179.0	206.0	197.0					11																	63668075		2201	4297	6498	63424651	SO:0001583	missense	2011	exon9			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.714C>A	11.37:g.63668075C>A	ENSP00000423974:p.Phe238Leu		63424651	NM_017490		Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731578	0.89390	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	N	0.05031	-0.125	0.80722	D	1	D;D;D;D;D;D	0.67145	0.996;0.974;0.97;0.99;0.974;0.985	D;P;P;D;P;P	0.68765	0.932;0.511;0.75;0.96;0.638;0.81	T	0.19257	-1.0311	10	0.87932	D	0	.	11.2533	0.49039	0.0:0.9158:0.0:0.0842	.	238;238;271;271;271;271	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	L	271;271;271;271;238;271;271;271;271;238;238;238;238	ENSP00000385751:F271L;ENSP00000326632:F271L;ENSP00000367040:F271L;ENSP00000389184:F271L;ENSP00000367041:F238L;ENSP00000425765:F271L;ENSP00000355091:F271L;ENSP00000294247:F271L;ENSP00000423974:F238L;ENSP00000421075:F238L;ENSP00000386128:F238L;ENSP00000415494:F238L	ENSP00000326632:F271L	F	+	3	2	MARK2	63424651	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.246000	0.51414	2.732000	0.93576	0.557000	0.71058	TTC		0.488	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490	
RCOR2	283248	broad.mit.edu	37	11	63681556	63681556	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63681556C>T	ENST00000301459.4	-	8	1148	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	254					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R254Q(2)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ACGCCGGGTTCGCAAGGGATG	0.637																																					p.R254Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G761A	11						.						105.0	97.0	100.0					11																	63681556		2201	4297	6498	63438132	SO:0001583	missense	283248	exon8			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.761G>A	11.37:g.63681556C>T	ENSP00000301459:p.Arg254Gln		63438132	NM_173587	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136161	0.77662	.	.	ENSG00000167771	ENST00000301459	T	0.46451	0.87	4.58	4.58	0.56647	.	0.162858	0.43747	D	0.000524	T	0.60599	0.2281	M	0.76574	2.34	0.51482	D	0.999924	D	0.76494	0.999	P	0.58331	0.837	T	0.66164	-0.5992	10	0.66056	D	0.02	.	16.6689	0.85260	0.0:1.0:0.0:0.0	.	254	Q8IZ40	RCOR2_HUMAN	Q	254	ENSP00000301459:R254Q	ENSP00000301459:R254Q	R	-	2	0	RCOR2	63438132	0.998000	0.40836	0.363000	0.25875	0.076000	0.17211	5.842000	0.69417	2.532000	0.85374	0.561000	0.74099	CGA		0.637	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
RCOR2	283248	broad.mit.edu	37	11	63681949	63681949	+	Missense_Mutation	SNP	C	C	T	rs140081088		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63681949C>T	ENST00000301459.4	-	6	932	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	182					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R182Q(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CACACTAGTTCGGCTGCGGGT	0.597																																					p.R182Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	11						.	C	GLN/ARG	0,4402		0,0,2201	61.0	72.0	68.0		545	3.5	1.0	11	dbSNP_134	68	1,8593	1.2+/-3.3	0,1,4296	no	missense	RCOR2	NM_173587.3	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/524	63681949	1,12995	2201	4297	6498	63438525	SO:0001583	missense	283248	exon6			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.545G>A	11.37:g.63681949C>T	ENSP00000301459:p.Arg182Gln		63438525	NM_173587	Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150138	0.78001	0.0	1.16E-4	ENSG00000167771	ENST00000301459	T	0.28895	1.59	4.37	3.46	0.39613	Homeodomain-like (1);	0.068380	0.52532	D	0.000070	T	0.52108	0.1714	M	0.83774	2.66	0.52501	D	0.999955	D	0.76494	0.999	P	0.61132	0.884	T	0.56613	-0.7950	10	0.51188	T	0.08	.	11.6708	0.51399	0.0:0.9104:0.0:0.0896	.	182	Q8IZ40	RCOR2_HUMAN	Q	182	ENSP00000301459:R182Q	ENSP00000301459:R182Q	R	-	2	0	RCOR2	63438525	0.993000	0.37304	0.971000	0.41717	0.984000	0.73092	4.858000	0.62947	0.964000	0.38108	0.561000	0.74099	CGA		0.597	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
STIP1	10963	broad.mit.edu	37	11	63965024	63965024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63965024G>T	ENST00000305218.4	+	7	1006	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	STIP1_ENST00000538945.1_Nonsense_Mutation_p.E263*|STIP1_ENST00000358794.5_Nonsense_Mutation_p.E334*	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	287					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E287*(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGGCCATTGAAGTGGGGAG	0.498																																					p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	11						.						67.0	69.0	69.0					11																	63965024		2201	4297	6498	63721600	SO:0001587	stop_gained	10963	exon7			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.859G>T	11.37:g.63965024G>T	ENSP00000305958:p.Glu287*		63721600	NM_006819	B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Nonsense_Mutation	SNP	ENST00000305218.4	37	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	G	37	6.281134	0.97440	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945	.	.	.	5.73	5.73	0.89815	.	0.199495	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-24.2585	19.059	0.93080	0.0:0.0:1.0:0.0	.	.	.	.	X	334;287;263	.	ENSP00000305958:E287X	E	+	1	0	STIP1	63721600	1.000000	0.71417	0.961000	0.40146	0.851000	0.48451	7.320000	0.79064	2.882000	0.98803	0.655000	0.94253	GAA		0.498	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819	
NUDT22	84304	broad.mit.edu	37	11	63995105	63995105	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63995105C>A	ENST00000279206.3	+	3	702	c.546C>A	c.(544-546)ctC>ctA	p.L182L	TRPT1_ENST00000546133.1_5'Flank|TRPT1_ENST00000317459.6_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394546.2_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|TRPT1_ENST00000546089.1_5'Flank|DNAJC4_ENST00000321685.3_5'Flank|TRPT1_ENST00000394547.3_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Intron|TRPT1_ENST00000541278.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	182	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)	p.L182L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TACATGAACTCTTTTCCAGTG	0.597																																					p.L182L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546A	11						.						110.0	98.0	102.0					11																	63995105		2201	4297	6498	63751681	SO:0001819	synonymous_variant	84304	exon3			BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.546C>A	11.37:g.63995105C>A			63751681	NM_001128612	C9JY06|Q71RD5	Silent	SNP	ENST00000279206.3	37	CCDS8061.1																																																																																				0.597	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344	
KCNK4	50801	broad.mit.edu	37	11	64064727	64064727	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64064727C>T	ENST00000539216.1	+	3	810	c.450C>T	c.(448-450)atC>atT	p.I150I	Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.I150I|KCNK4_ENST00000538767.1_Missense_Mutation_p.S84L|KCNK4_ENST00000394525.2_Silent_p.I150I|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	150					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.I150I(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GCCATGGCATCGGTCACATTG	0.627																																					p.I150I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	11						.						47.0	47.0	47.0					11																	64064727		2201	4297	6498	63821303	SO:0001819	synonymous_variant	50801	exon4			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.450C>T	11.37:g.64064727C>T			63821303	NM_033310	B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320064	0.41096	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.05	-2.44	0.06502	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.11329	0.006;0.006	T	0.36817	-0.9732	7	0.87932	D	0	.	10.8859	0.46965	0.0:0.5438:0.0:0.4562	.	123;84	B4DJC9;F5GYE0	.;.	L	84	.	ENSP00000446454:S84L	S	+	2	0	KCNK4	63821303	0.030000	0.19436	0.729000	0.30791	0.995000	0.86356	-0.960000	0.03849	-0.504000	0.06577	0.561000	0.74099	TCG		0.627	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311	
KCNK4	50801	broad.mit.edu	37	11	64064980	64064980	+	Silent	SNP	G	G	A	rs147311763	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64064980G>A	ENST00000539216.1	+	4	876	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TEX40_ENST00000539943.1_5'Flank|Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.A172A|KCNK4_ENST00000538767.1_Intron|KCNK4_ENST00000394525.2_Silent_p.A172A|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000539651.1_Intron			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	172					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A172A(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TGCTGTCGGCGATGCTTTTCC	0.577																																					p.A172A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G516A	11						.						128.0	102.0	110.0					11																	64064980		2201	4297	6498	63821556	SO:0001819	synonymous_variant	50801	exon5			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.516G>A	11.37:g.64064980G>A			63821556	NM_033310	B5TJL1|Q96T94	Silent	SNP	ENST00000539216.1	37	CCDS8067.1																																																																																				0.577	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311	
SLC22A11	55867	broad.mit.edu	37	11	64331885	64331885	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64331885G>T	ENST00000301891.4	+	5	1301	c.927G>T	c.(925-927)aaG>aaT	p.K309N	SLC22A11_ENST00000377581.3_Missense_Mutation_p.K309N|SLC22A11_ENST00000377585.3_Missense_Mutation_p.K309N|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	309					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.K309N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	AGGAGGCCAAGAACCTGACCA	0.562																																					p.K309N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	11						.						93.0	86.0	88.0					11																	64331885		2201	4297	6498	64088461	SO:0001583	missense	55867	exon5			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.927G>T	11.37:g.64331885G>T	ENSP00000301891:p.Lys309Asn		64088461	NM_018484	A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871796	0.33069	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.75154	-0.91;-0.91;-0.91	4.31	-4.06	0.03986	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.546580	0.04187	U	0.327503	T	0.61590	0.2359	N	0.05351	-0.065	0.09310	N	1	D;D;P;P	0.58970	0.958;0.984;0.889;0.889	P;P;P;P	0.57846	0.676;0.828;0.659;0.524	T	0.53697	-0.8402	10	0.27785	T	0.31	.	1.7548	0.02980	0.1652:0.3717:0.2116:0.2515	.	309;103;309;309	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	N	309	ENSP00000301891:K309N;ENSP00000366809:K309N;ENSP00000366804:K309N	ENSP00000301891:K309N	K	+	3	2	SLC22A11	64088461	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.232000	0.17891	-0.515000	0.06479	-0.302000	0.09304	AAG		0.562	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
NRXN2	9379	broad.mit.edu	37	11	64418761	64418761	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64418761C>T	ENST00000377551.1	-	13	3095	c.2884G>A	c.(2884-2886)Ggc>Agc	p.G962S	NRXN2_ENST00000265459.6_Missense_Mutation_p.G962S|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.G955S|NRXN2_ENST00000377559.3_Missense_Mutation_p.G922S			Q9P2S2	NRX2A_HUMAN	neurexin 2	962	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.G962S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGTCATTGCCGTTGCCCGAG	0.587											OREG0004037|OREG0021057	type=REGULATORY REGION|Gene=AL137356|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G962S												NRXN2,skin,NS,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G2884A	11						.						67.0	55.0	59.0					11																	64418761		2201	4297	6498	64175337	SO:0001583	missense	9379	exon14				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2884G>A	11.37:g.64418761C>T	ENSP00000366774:p.Gly962Ser	1076	64175337	NM_015080	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855841	0.71834	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.2	4.2	0.49525	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.290921	0.18872	N	0.128818	D	0.84370	0.5457	L	0.52759	1.655	0.54753	D	0.999983	D;B;B	0.89917	1.0;0.424;0.02	D;B;B	0.97110	1.0;0.377;0.009	D	0.85476	0.1176	10	0.66056	D	0.02	.	14.0926	0.65000	0.0:1.0:0.0:0.0	.	922;962;708	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	S	962;922;962;922;955	ENSP00000366774:G962S;ENSP00000366782:G922S;ENSP00000265459:G962S;ENSP00000386416:G955S	ENSP00000265459:G962S	G	-	1	0	NRXN2	64175337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.610000	0.82949	2.172000	0.68678	0.561000	0.74099	GGC		0.587	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
RASGRP2	10235	broad.mit.edu	37	11	64503026	64503026	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64503026C>A	ENST00000354024.3	-	11	1536	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	RASGRP2_ENST00000377497.3_Missense_Mutation_p.E428D|RASGRP2_ENST00000377494.1_Missense_Mutation_p.E428D|RASGRP2_ENST00000394432.3_Missense_Mutation_p.E428D	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	428	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.E490D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACCATCTTCTCGATGTGCT	0.647																																					p.E428D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1284T	11						.						60.0	56.0	57.0					11																	64503026		2201	4297	6498	64259602	SO:0001583	missense	10235	exon11			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1284G>T	11.37:g.64503026C>A	ENSP00000338864:p.Glu428Asp		64259602	NM_001098670	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296169	0.81025	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.9	3.99	0.46301	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.53249	1.67	0.80722	D	1	P;P	0.44734	0.842;0.495	B;B	0.33750	0.169;0.169	T	0.26849	-1.0091	10	0.59425	D	0.04	-8.5918	11.2484	0.49010	0.0:0.9095:0.0:0.0905	.	428;428	Q7LDG7;A6NDC7	GRP2_HUMAN;.	D	428	ENSP00000366714:E428D;ENSP00000377953:E428D;ENSP00000366717:E428D;ENSP00000338864:E428D	ENSP00000338864:E428D	E	-	3	2	RASGRP2	64259602	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.060000	0.41394	1.212000	0.43366	0.561000	0.74099	GAG		0.647	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
RASGRP2	10235	broad.mit.edu	37	11	64503052	64503052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64503052G>A	ENST00000354024.3	-	11	1510	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	RASGRP2_ENST00000377497.3_Nonsense_Mutation_p.Q420*|RASGRP2_ENST00000377494.1_Nonsense_Mutation_p.Q420*|RASGRP2_ENST00000394432.3_Nonsense_Mutation_p.Q420*	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	420					blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.Q482*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGAGGGCCTGATCCAGCTTG	0.647																																					p.Q420X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1258T	11						.						57.0	52.0	54.0					11																	64503052		2201	4297	6498	64259628	SO:0001587	stop_gained	10235	exon11			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1258C>T	11.37:g.64503052G>A	ENSP00000338864:p.Gln420*		64259628	NM_001098670	A6NDC7|O00538|Q9UL65	Nonsense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418785	0.98272	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	.	.	.	4.9	4.9	0.64082	.	0.060349	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-20.7837	15.9583	0.79906	0.0:0.0:1.0:0.0	.	.	.	.	X	420	.	ENSP00000338864:Q420X	Q	-	1	0	RASGRP2	64259628	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	6.810000	0.75216	2.446000	0.82766	0.561000	0.74099	CAG		0.647	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
PYGM	5837	broad.mit.edu	37	11	64519471	64519471	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64519471C>T	ENST00000164139.3	-	14	2091	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	PYGM_ENST00000377432.3_Missense_Mutation_p.D477N|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	565					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.D565N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCTGGATGTCGAAGAGTGAG	0.517																																					p.D477N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1429A	11						.						218.0	185.0	196.0					11																	64519471		2201	4297	6498	64276047	SO:0001583	missense	5837	exon12				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1693G>A	11.37:g.64519471C>T	ENSP00000164139:p.Asp565Asn		64276047	NM_001164716	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501420	0.96371	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96200	-3.94;-3.94	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000012	D	0.98469	0.9490	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.99449	1.0940	10	0.87932	D	0	-44.0514	17.3513	0.87324	0.0:1.0:0.0:0.0	.	477;565	A6NDY6;P11217	.;PYGM_HUMAN	N	477;565;546	ENSP00000366650:D477N;ENSP00000164139:D565N	ENSP00000164139:D565N	D	-	1	0	PYGM	64276047	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.783000	0.85696	2.698000	0.92095	0.561000	0.74099	GAC		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
SF1	7536	broad.mit.edu	37	11	64537040	64537040	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64537040T>G	ENST00000377390.3	-	6	858	c.521A>C	c.(520-522)aAg>aCg	p.K174T	SF1_ENST00000227503.9_Missense_Mutation_p.K174T|SF1_ENST00000377387.1_Missense_Mutation_p.K299T|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Missense_Mutation_p.K59T|SF1_ENST00000433274.2_Missense_Mutation_p.K148T|SF1_ENST00000377394.3_Missense_Mutation_p.K174T|SF1_ENST00000334944.5_Missense_Mutation_p.K174T	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	174	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K174T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GATCATAATCTTGGCATTGCA	0.483																																					p.K174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521C	11						.						224.0	228.0	227.0					11																	64537040		2201	4297	6498	64293616	SO:0001583	missense	7536	exon6			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.521A>C	11.37:g.64537040T>G	ENSP00000366607:p.Lys174Thr		64293616	NM_201998	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986590	0.93106	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39	6.04	6.04	0.98038	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.997;0.996;0.998;0.997;0.997	T	0.70425	-0.4875	10	0.87932	D	0	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	59;174;174;174;174;299	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	T	299;174;174;174;174;59;148	ENSP00000366604:K299T;ENSP00000366607:K174T;ENSP00000227503:K174T;ENSP00000366611:K174T;ENSP00000334414:K174T;ENSP00000413084:K59T;ENSP00000396793:K148T	ENSP00000227503:K174T	K	-	2	0	SF1	64293616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.670000	0.83925	2.317000	0.78254	0.460000	0.39030	AAG		0.483	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
EHD1	10938	broad.mit.edu	37	11	64622929	64622929	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64622929C>A	ENST00000320631.3	-	4	1199	c.945G>T	c.(943-945)aaG>aaT	p.K315N	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Missense_Mutation_p.K315N	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	315					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.K315N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCATCTCTTTCTTGAGGGAGC	0.547											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945T	11						.						151.0	140.0	144.0					11																	64622929		2201	4297	6498	64379505	SO:0001583	missense	10938	exon4			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.945G>T	11.37:g.64622929C>A	ENSP00000320516:p.Lys315Asn	1078	64379505	NM_006795	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362391	0.82353	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.51574	2.0;2.0;0.7;1.3	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.92412	3.305	0.58432	D	0.999998	P;P	0.49358	0.923;0.923	P;P	0.52957	0.714;0.714	T	0.78590	-0.2145	10	0.87932	D	0	.	15.0511	0.71872	0.0:1.0:0.0:0.0	.	315;315	B2R5U3;Q9H4M9	.;EHD1_HUMAN	N	315;315;291;329;179;329	ENSP00000320516:K315N;ENSP00000352354:K315N;ENSP00000391429:K179N;ENSP00000404944:K329N	ENSP00000320516:K315N	K	-	3	2	EHD1	64379505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.439000	0.44846	2.420000	0.82092	0.561000	0.74099	AAG		0.547	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795	
PPP2R5B	5526	broad.mit.edu	37	11	64697809	64697809	+	Silent	SNP	C	C	T	rs186585758		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64697809C>T	ENST00000164133.2	+	7	1360	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	246					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.F246F(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCTATGAATTCGAGCACTTCA	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		19032	0.001		0.0	False		,,,				2504	0.0				p.F246F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C738T	11						.						125.0	110.0	115.0					11																	64697809		2201	4297	6498	64454385	SO:0001819	synonymous_variant	5526	exon7			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.738C>T	11.37:g.64697809C>T			64454385	NM_006244	Q13853	Silent	SNP	ENST00000164133.2	37	CCDS8085.1																																																																																				0.582	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244	
ZFPL1	7542	broad.mit.edu	37	11	64853947	64853947	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64853947C>A	ENST00000294258.3	+	4	427	c.275C>A	c.(274-276)cCt>cAt	p.P92H	AP003068.6_ENST00000525544.2_5'Flank|CDCA5_ENST00000275517.3_5'Flank|CDCA5_ENST00000404147.3_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	92					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P92H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AACACGGCACCTGCCGGCTAT	0.617																																					p.P92H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C275A	11						.						145.0	153.0	151.0					11																	64853947		2201	4297	6498	64610523	SO:0001583	missense	7542	exon4				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.275C>A	11.37:g.64853947C>A	ENSP00000294258:p.Pro92His		64610523	NM_006782	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659672	0.88154	.	.	ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200	D;D;D	0.96232	-3.95;-3.95;-3.95	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.051783	0.85682	D	0.000000	D	0.98353	0.9453	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99232	1.0882	10	0.72032	D	0.01	-7.8398	16.8521	0.85996	0.0:1.0:0.0:0.0	.	92	O95159	ZFPL1_HUMAN	H	92;92;86;92	ENSP00000294258:P92H;ENSP00000434454:P92H;ENSP00000437090:P92H	ENSP00000294258:P92H	P	+	2	0	ZFPL1	64610523	1.000000	0.71417	0.998000	0.56505	0.885000	0.51271	6.990000	0.76225	2.578000	0.87016	0.462000	0.41574	CCT		0.617	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782	
SYVN1	84447	broad.mit.edu	37	11	64896042	64896042	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64896042C>T	ENST00000377190.3	-	15	1834	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Silent_p.R579R|SYVN1_ENST00000307289.6_Silent_p.R528R|SYVN1_ENST00000526060.1_Silent_p.R579R	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	580					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)	p.R580R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TACCTGGAGGCCTTTCCATTT	0.617																																					p.R579R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1737A	11						.						50.0	59.0	56.0					11																	64896042		2201	4297	6498	64652618	SO:0001819	synonymous_variant	84447	exon15			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1740G>A	11.37:g.64896042C>T			64652618	NM_032431	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Silent	SNP	ENST00000377190.3	37	CCDS31605.1	.	.	.	.	.	.	.	.	.	.	c	0.304	-0.971915	0.02215	.	.	ENSG00000162298	ENST00000434219	.	.	.	4.73	1.83	0.25207	.	.	.	.	.	T	0.52709	0.1751	.	.	.	0.49798	D	0.999824	.	.	.	.	.	.	T	0.41502	-0.9505	5	0.35671	T	0.21	-4.6004	4.6044	0.12371	0.0:0.6:0.1982:0.2018	.	.	.	.	D	580	.	ENSP00000412962:G580D	G	-	2	0	SYVN1	64652618	0.834000	0.29399	0.747000	0.31113	0.231000	0.25187	0.854000	0.27791	0.218000	0.20820	0.550000	0.68814	GGC		0.617	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431	
SLC22A20	440044	broad.mit.edu	37	11	64990004	64990004	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:64990004G>T	ENST00000525437.1	+	0	902							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.E234*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TAGCTGTACAGAATCTGCAGA	0.587																																					p.E234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G700T	11						.						64.0	62.0	62.0					11																	64990004		2040	4202	6242	64746580			440044	exon4			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64990004G>T			64746580	NM_001004326	B9EJB2|Q6ZN88	Nonsense_Mutation	SNP	ENST00000525437.1	37																																																																																					0.587	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1	NM_001004326	
KAT5	10524	broad.mit.edu	37	11	65482032	65482032	+	Nonsense_Mutation	SNP	C	C	T	rs4645921		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65482032C>T	ENST00000377046.3	+	8	930	c.658C>T	c.(658-660)Cga>Tga	p.R220*	KAT5_ENST00000530446.1_Nonsense_Mutation_p.R201*|KAT5_ENST00000534650.1_Nonsense_Mutation_p.R9*|KAT5_ENST00000341318.4_Nonsense_Mutation_p.R253*|KAT5_ENST00000352980.4_Nonsense_Mutation_p.R168*	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	220					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)	p.R253*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGTGTCTGATCGAAGCCACGA	0.582																																					p.R253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C757T	11						.						98.0	78.0	85.0					11																	65482032		2201	4297	6498	65238608	SO:0001587	stop_gained	10524	exon7			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.658C>T	11.37:g.65482032C>T	ENSP00000366245:p.Arg220*		65238608	NM_182710	B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Nonsense_Mutation	SNP	ENST00000377046.3	37	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732762	0.30684	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534104;ENST00000528198;ENST00000531880;ENST00000534650;ENST00000534681	.	.	.	4.97	3.03	0.35002	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-17.2735	7.9251	0.29870	0.1839:0.6388:0.1772:0.0	.	.	.	.	X	220;168;253;201;9;162;214;9;9	.	ENSP00000340330:R253X	R	+	1	2	KAT5	65238608	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	3.322000	0.52007	0.632000	0.30432	-0.305000	0.09177	CGA		0.582	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	
SNX32	254122	broad.mit.edu	37	11	65620387	65620387	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65620387G>T	ENST00000308342.6	+	12	1541	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	372					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.K372N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CTTTTCGAAAGAATCTCATTG	0.627																																					p.K372N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1116T	11						.						88.0	93.0	91.0					11																	65620387		2201	4297	6498	65376963	SO:0001583	missense	254122	exon12			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1116G>T	11.37:g.65620387G>T	ENSP00000310620:p.Lys372Asn		65376963	NM_152760	Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650807	0.67472	.	.	ENSG00000172803	ENST00000308342	T	0.20332	2.08	3.88	1.92	0.25849	.	0.148826	0.31113	N	0.008240	T	0.40619	0.1124	M	0.79475	2.455	0.35826	D	0.824947	D	0.76494	0.999	D	0.67900	0.954	T	0.52859	-0.8519	10	0.87932	D	0	-21.2832	8.2013	0.31426	0.211:0.0:0.789:0.0	.	372	Q86XE0	SNX32_HUMAN	N	372	ENSP00000310620:K372N	ENSP00000310620:K372N	K	+	3	2	SNX32	65376963	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	2.118000	0.41949	0.840000	0.34995	0.561000	0.74099	AAG		0.627	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760	
BANF1	8815	broad.mit.edu	37	11	65771217	65771217	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65771217C>T	ENST00000312175.2	+	3	752	c.244C>T	c.(244-246)Cga>Tga	p.R82*	BANF1_ENST00000445560.2_Nonsense_Mutation_p.R82*|EIF1AD_ENST00000529964.1_5'Flank|EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000527249.1_5'Flank|BANF1_ENST00000533166.1_Nonsense_Mutation_p.R82*|EIF1AD_ENST00000526451.1_5'Flank|BANF1_ENST00000524628.1_3'UTR|EIF1AD_ENST00000533544.1_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|BANF1_ENST00000527348.1_Nonsense_Mutation_p.R82*	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	82					DNA integration (GO:0015074)|establishment of integrated proviral latency (GO:0075713)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|response to virus (GO:0009615)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R82*(1)		large_intestine(2)|prostate(1)	3						CGGATGCCTTCGAGAGTGGTG	0.567																																					p.R82X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C244T	11						.						73.0	69.0	70.0					11																	65771217		2201	4296	6497	65527793	SO:0001587	stop_gained	8815	exon3			AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334			17397	protein-coding gene	gene with protein product		603811				9465049	Standard	NM_003860		Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.244C>T	11.37:g.65771217C>T	ENSP00000310275:p.Arg82*		65527793	NM_001143985	O60558|Q6FGG7	Nonsense_Mutation	SNP	ENST00000312175.2	37	CCDS8125.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708975	0.89018	.	.	ENSG00000175334	ENST00000312175;ENST00000445560;ENST00000533166;ENST00000527348	.	.	.	4.91	4.01	0.46588	.	0.191724	0.43260	D	0.000596	.	.	.	.	.	.	0.49130	D	0.999757	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.1095	6.1307	0.20203	0.1848:0.7214:0.0:0.0938	.	.	.	.	X	82	.	ENSP00000310275:R82X	R	+	1	2	BANF1	65527793	0.991000	0.36638	0.950000	0.38849	0.053000	0.15095	3.250000	0.51445	1.323000	0.45263	-0.142000	0.14014	CGA		0.567	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391340.1	NM_003860	
CATSPER1	117144	broad.mit.edu	37	11	65787826	65787826	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65787826T>C	ENST00000312106.5	-	8	2163	c.2026A>G	c.(2026-2028)Acg>Gcg	p.T676A		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.T676A(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AACAGCGCCGTCTGGAAGCTA	0.627																																					p.T676A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2026G	11						.						116.0	112.0	113.0					11																	65787826		2201	4296	6497	65544402	SO:0001583	missense	117144	exon8			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2026A>G	11.37:g.65787826T>C	ENSP00000309052:p.Thr676Ala		65544402	NM_053054	Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213396	0.22289	.	.	ENSG00000175294	ENST00000312106	D	0.96427	-4.01	5.14	5.14	0.70334	.	0.195350	0.25386	U	0.031058	D	0.88815	0.6539	N	0.08118	0	0.21933	N	0.999461	B	0.10296	0.003	B	0.09377	0.004	T	0.74393	-0.3680	10	0.09338	T	0.73	-20.654	11.34	0.49527	0.0:0.0:0.0:1.0	.	676	Q8NEC5	CTSR1_HUMAN	A	676	ENSP00000309052:T676A	ENSP00000309052:T676A	T	-	1	0	CATSPER1	65544402	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	1.341000	0.33907	1.936000	0.56123	0.402000	0.26972	ACG		0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
PACS1	55690	broad.mit.edu	37	11	65977848	65977848	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65977848C>A	ENST00000320580.4	+	3	493	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	154					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)	p.L154I(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AAAAAGAATTCTTCGCTCCAA	0.507																																					p.L154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C460A	11						.						133.0	118.0	123.0					11																	65977848		2201	4295	6496	65734424	SO:0001583	missense	55690	exon3			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.460C>A	11.37:g.65977848C>A	ENSP00000316454:p.Leu154Ile		65734424	NM_018026	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356807	0.82243	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.57907	0.37	5.28	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.80764	0.987;0.994	T	0.76063	-0.3096	10	0.87932	D	0	-10.7761	9.2592	0.37601	0.0:0.832:0.0:0.168	.	154;154	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	I	154;51;56	ENSP00000316454:L154I	ENSP00000316454:L154I	L	+	1	0	PACS1	65734424	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.896000	0.56266	1.228000	0.43614	0.585000	0.79938	CTT		0.507	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	
KLC2	64837	broad.mit.edu	37	11	66029609	66029609	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66029609G>A	ENST00000417856.1	+	4	718	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	KLC2_ENST00000394078.1_Missense_Mutation_p.V159I|KLC2_ENST00000394067.2_Missense_Mutation_p.V159I|KLC2_ENST00000394066.2_Missense_Mutation_p.V82I|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.V20I|KLC2_ENST00000316924.5_Missense_Mutation_p.V159I|KLC2_ENST00000421552.1_Missense_Mutation_p.V82I|RP11-867G23.1_ENST00000530805.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	159					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAGGGGGACGTCCCCAAAGA	0.602																																					p.V159I												.	.	0			c.G475A	11						.						105.0	84.0	91.0					11																	66029609		2200	4295	6495	65786185	SO:0001583	missense	64837	exon4			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.475G>A	11.37:g.66029609G>A	ENSP00000399403:p.Val159Ile		65786185	NM_001134775	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	7.136	0.580784	0.13686	.	.	ENSG00000174996	ENST00000417856;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394078;ENST00000461611;ENST00000475757;ENST00000394066;ENST00000394065	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.04	3.13	0.36017	Rabaptin, GTPase-Rab5 binding (1);	0.367485	0.25291	N	0.031729	T	0.22781	0.0550	N	0.14661	0.345	0.09310	N	0.999998	B;B;B;B	0.24721	0.09;0.007;0.002;0.11	B;B;B;B	0.30179	0.112;0.003;0.001;0.066	T	0.11036	-1.0604	10	0.36615	T	0.2	-19.0825	3.5661	0.07900	0.2096:0.0:0.5912:0.1992	.	159;20;82;159	A8MX29;A8MZ87;A8MXL7;Q9H0B6	.;.;.;KLC2_HUMAN	I	159;159;159;159;82;159;82;159;82;20	ENSP00000399403:V159I;ENSP00000396952:V159I;ENSP00000377631:V159I;ENSP00000314837:V159I;ENSP00000408484:V82I;ENSP00000377641:V159I;ENSP00000434538:V82I;ENSP00000431253:V159I;ENSP00000377630:V82I;ENSP00000377629:V20I	ENSP00000314837:V159I	V	+	1	0	KLC2	65786185	0.038000	0.19896	0.905000	0.35620	0.422000	0.31414	1.184000	0.32053	0.910000	0.36722	-0.258000	0.10820	GTC		0.602	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	
SLC29A2	3177	broad.mit.edu	37	11	66136895	66136895	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66136895G>A	ENST00000357440.2	-	3	448	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	SLC29A2_ENST00000311161.7_Silent_p.L74L|SLC29A2_ENST00000546034.1_Silent_p.L74L|SLC29A2_ENST00000544554.1_Silent_p.L74L	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	74					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.L74L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGCTGGGACAGCAGCGTCACC	0.647																																					p.L74L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C220T	11						.						180.0	161.0	168.0					11																	66136895		2200	4295	6495	65893471	SO:0001819	synonymous_variant	3177	exon3			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.220C>T	11.37:g.66136895G>A			65893471	NM_001532	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Silent	SNP	ENST00000357440.2	37	CCDS8137.1																																																																																				0.647	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532	
NPAS4	266743	broad.mit.edu	37	11	66191166	66191166	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66191166C>G	ENST00000311034.2	+	6	1102	c.926C>G	c.(925-927)gCc>gGc	p.A309G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	309	PAC.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.A309G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCATTACTGCCAATAACTAC	0.532																																					p.A309G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926G	11						.						75.0	74.0	74.0					11																	66191166		2200	4295	6495	65947742	SO:0001583	missense	266743	exon6			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.926C>G	11.37:g.66191166C>G	ENSP00000311196:p.Ala309Gly		65947742	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641565	0.29157	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	4.97	4.97	0.65823	.	0.119241	0.38217	N	0.001776	T	0.34366	0.0895	N	0.14661	0.345	0.36269	D	0.855056	B	0.16396	0.017	B	0.20767	0.031	T	0.39542	-0.9609	10	0.66056	D	0.02	-6.2824	15.7617	0.78087	0.0:1.0:0.0:0.0	.	309	Q8IUM7	NPAS4_HUMAN	G	309	ENSP00000311196:A309G	ENSP00000311196:A309G	A	+	2	0	NPAS4	65947742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.395000	0.59678	2.566000	0.86566	0.561000	0.74099	GCC		0.532	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
NPAS4	266743	broad.mit.edu	37	11	66192122	66192122	+	Silent	SNP	G	G	A	rs373430880		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66192122G>A	ENST00000311034.2	+	7	1937	c.1761G>A	c.(1759-1761)acG>acA	p.T587T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.T587T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGACTGCACGCTCTTGGCCC	0.607																																					p.T587T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1761A	11						.						77.0	86.0	83.0					11																	66192122		2200	4295	6495	65948698	SO:0001819	synonymous_variant	266743	exon7			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1761G>A	11.37:g.66192122G>A			65948698	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	CCDS8138.1																																																																																				0.607	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
PELI3	246330	broad.mit.edu	37	11	66240754	66240754	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66240754G>T	ENST00000320740.7	+	6	659	c.499G>T	c.(499-501)Gac>Tac	p.D167Y	CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.D167Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Missense_Mutation_p.D143Y	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	167					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D167Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGTGGTAACAGACACGTCCCC	0.607																																					p.D167Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499T	11						.						72.0	69.0	70.0					11																	66240754		2200	4295	6495	65997330	SO:0001583	missense	246330	exon6			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.499G>T	11.37:g.66240754G>T	ENSP00000322532:p.Asp167Tyr		65997330	NM_145065	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862613	0.91511	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.998;1.0	D	0.85504	0.1193	10	0.87932	D	0	-39.4691	16.2303	0.82332	0.0:0.0:1.0:0.0	.	143;167;167	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Y	143;167;167;60	ENSP00000309848:D143Y;ENSP00000322532:D167Y;ENSP00000434677:D167Y;ENSP00000436722:D60Y	ENSP00000322532:D167Y	D	+	1	0	PELI3	65997330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.688000	0.91661	0.655000	0.94253	GAC		0.607	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065	
DPP3	10072	broad.mit.edu	37	11	66260299	66260299	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66260299G>T	ENST00000360510.2	+	10	1166	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000530165.1_Missense_Mutation_p.K337N|DPP3_ENST00000453114.1_Missense_Mutation_p.K367N|DPP3_ENST00000531863.1_Missense_Mutation_p.K387N|DPP3_ENST00000541961.1_Missense_Mutation_p.K367N|DPP3_ENST00000532677.1_Missense_Mutation_p.K386N			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	367					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K367N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAAGGACAAGTTCCTCACCC	0.602																																					p.K367N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1101T	11						.						94.0	92.0	93.0					11																	66260299		2200	4295	6495	66016875	SO:0001583	missense	10072	exon10			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1101G>T	11.37:g.66260299G>T	ENSP00000353701:p.Lys367Asn		66016875	NM_005700	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018360	0.35606	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	5.26	3.37	0.38596	.	0.171337	0.50627	D	0.000107	T	0.25005	0.0607	L	0.58354	1.805	0.33356	D	0.5717	B;B	0.20671	0.035;0.047	B;B	0.30029	0.028;0.11	T	0.26018	-1.0115	10	0.49607	T	0.09	.	6.1119	0.20106	0.1725:0.1535:0.674:0.0	.	386;367	G3V1D3;Q9NY33	.;DPP3_HUMAN	N	387;386;367;367;367;337;265	ENSP00000432782:K387N;ENSP00000435284:K386N;ENSP00000353701:K367N;ENSP00000389943:K367N;ENSP00000440502:K367N;ENSP00000436941:K337N	ENSP00000353701:K367N	K	+	3	2	DPP3	66016875	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.230000	0.32612	1.219000	0.43474	-0.140000	0.14226	AAG		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2		
CTSF	8722	broad.mit.edu	37	11	66329762	66329762	+	IGR	SNP	G	G	A	rs114618009	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66329762G>A	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GATGACTTCCGAGCTTGCCTC	0.577													G|||	45	0.00898562	0.0333	0.0	5008	,	,		18503	0.0		0.001	False		,,,				2504	0.0				p.R786Q												.	.	0			c.G2357A	11						.	G	GLN/ARG	74,4118		1,72,2023	126.0	141.0	136.0		2357	5.7	1.0	11	dbSNP_132	136	1,8467		0,1,4233	yes	missense	ACTN3	NM_001104.1	43	1,73,6256	AA,AG,GG		0.0118,1.7653,0.5924	possibly-damaging	786/902	66329762	75,12585	2096	4234	6330	66086338	SO:0001628	intergenic_variant	89	exon19			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329762G>A			66086338	NM_001104	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.577	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
CTSF	8722	broad.mit.edu	37	11	66330556	66330556	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66330556C>T	ENST00000310325.5	-	0	2035				CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CCAAGCAGGCCGAGTACTGCA	0.672																																					p.A866A												.	.	0			c.C2598T	11						.						38.0	44.0	42.0					11																	66330556		1991	4146	6137	66087132	SO:0001628	intergenic_variant	89	exon21			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330556C>T			66087132	NM_001104	B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.672	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
CTSF	8722	broad.mit.edu	37	11	66334760	66334760	+	Missense_Mutation	SNP	C	C	A	rs140630766		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66334760C>A	ENST00000310325.5	-	4	673	c.564G>T	c.(562-564)aaG>aaT	p.K188N	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	188					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)	p.K188N(1)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGACAAAGTTCTTGAAGATTG	0.498																																					p.K188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	11						.						135.0	129.0	131.0					11																	66334760		2200	4295	6495	66091336	SO:0001583	missense	8722	exon4			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.564G>T	11.37:g.66334760C>A	ENSP00000310832:p.Lys188Asn		66091336	NM_003793	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.72|14.72	2.620951|2.620951	0.46736|0.46736	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325;ENST00000526010	.|D;T	.|0.84589	.|-1.87;0.51	5.14|5.14	4.23|4.23	0.50019|0.50019	.|Proteinase inhibitor I29, cathepsin propeptide (2);	.|0.111799	.|0.64402	.|D	.|0.000013	.|T	.|0.81470	.|0.4829	L|L	0.53561|0.53561	1.675|1.675	0.49483|0.49483	D|D	0.99979|0.99979	.|B	.|0.22604	.|0.072	.|B	.|0.25614	.|0.062	.|T	.|0.77115	.|-0.2707	.|10	.|0.36615	.|T	.|0.2	.|.	11.8491|11.8491	0.52401|0.52401	0.0:0.9135:0.0:0.0865|0.0:0.9135:0.0:0.0865	.|.	.|188	.|Q9UBX1	.|CATF_HUMAN	X|N	37|188;96	.|ENSP00000310832:K188N;ENSP00000435822:K96N	.|ENSP00000310832:K188N	E|K	-|-	1|3	0|2	CTSF|CTSF	66091336|66091336	0.996000|0.996000	0.38824|0.38824	0.922000|0.922000	0.36590|0.36590	0.739000|0.739000	0.42172|0.42172	1.159000|1.159000	0.31749|0.31749	1.292000|1.292000	0.44672|0.44672	0.462000|0.462000	0.41574|0.41574	GAA|AAG		0.498	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
CCDC87	55231	broad.mit.edu	37	11	66360129	66360129	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66360129C>T	ENST00000333861.3	-	1	425	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	120					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.V120M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTCAGCAGCACGTAGGCCTCG	0.622											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V120M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358A	11						.						49.0	51.0	51.0					11																	66360129		2200	4295	6495	66116705	SO:0001583	missense	55231	exon1			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.358G>A	11.37:g.66360129C>T	ENSP00000328487:p.Val120Met	1091	66116705	NM_018219	Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242120	0.79912	.	.	ENSG00000182791	ENST00000333861	T	0.39592	1.07	5.11	5.11	0.69529	.	0.000000	0.43919	D	0.000508	T	0.63943	0.2554	M	0.73962	2.25	0.38601	D	0.950674	D	0.89917	1.0	D	0.85130	0.997	T	0.69390	-0.5158	10	0.72032	D	0.01	.	13.8971	0.63778	0.0:1.0:0.0:0.0	.	120	Q9NVE4	CCD87_HUMAN	M	120	ENSP00000328487:V120M	ENSP00000328487:V120M	V	-	1	0	CCDC87	66116705	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	0.981000	0.29526	2.650000	0.89964	0.655000	0.94253	GTG		0.622	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219	
RBM14	10432	broad.mit.edu	37	11	66391988	66391988	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66391988G>A	ENST00000310137.4	+	2	780	c.641G>A	c.(640-642)cGc>cAc	p.R214H	RBM4_ENST00000503028.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409372.1_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	214					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.R214H(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGTCGCGACCGCAGCCCTCTG	0.637																																					p.R214H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	11						.						43.0	44.0	44.0					11																	66391988		2200	4295	6495	66148564	SO:0001583	missense	10432	exon2			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.641G>A	11.37:g.66391988G>A	ENSP00000311747:p.Arg214His		66148564	NM_006328	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271789	0.59649	.	.	ENSG00000239306	ENST00000310137	D	0.84800	-1.9	5.45	4.54	0.55810	.	0.281210	0.30989	N	0.008462	T	0.74974	0.3787	N	0.19112	0.55	0.80722	D	1	B	0.19331	0.035	B	0.06405	0.002	T	0.71457	-0.4587	10	0.59425	D	0.04	-1.0761	12.1185	0.53878	0.0836:0.0:0.9164:0.0	.	214	Q96PK6	RBM14_HUMAN	H	214	ENSP00000311747:R214H	ENSP00000311747:R214H	R	+	2	0	RBM14	66148564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.297000	0.78799	1.317000	0.45149	0.655000	0.94253	CGC		0.637	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328	
RBM4	5936	broad.mit.edu	37	11	66407465	66407465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66407465C>T	ENST00000409406.1	+	1	1060	c.283C>T	c.(283-285)Cga>Tga	p.R95*	RBM4_ENST00000503028.2_Nonsense_Mutation_p.R95*|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000310092.7_Nonsense_Mutation_p.R95*|RBM4_ENST00000532968.1_Nonsense_Mutation_p.R95*|RBM4_ENST00000506523.2_Nonsense_Mutation_p.R95*|RBM4_ENST00000483858.1_Nonsense_Mutation_p.R95*|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Nonsense_Mutation_p.R95*|RBM4_ENST00000408993.2_Nonsense_Mutation_p.R95*|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Nonsense_Mutation_p.R95*|RBM4_ENST00000398692.4_Nonsense_Mutation_p.R95*|RBM4_ENST00000578778.1_Nonsense_Mutation_p.R95*			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	95	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R95*(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TAAGGAGCTTCGAGCCAAGTT	0.502																																					p.R95X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C283T	11						.						185.0	171.0	176.0					11																	66407465		2200	4295	6495	66164041	SO:0001587	stop_gained	5936	exon2			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.283C>T	11.37:g.66407465C>T	ENSP00000386894:p.Arg95*		66164041	NM_001198843	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Nonsense_Mutation	SNP	ENST00000409406.1	37	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294978	0.98192	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7462	16.141	0.81522	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000425760:R95X	R	+	1	2	RBM4;RBM14-RBM4	66164041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.765000	0.47621	2.485000	0.83878	0.650000	0.86243	CGA		0.502	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
RBM4B	83759	broad.mit.edu	37	11	66436474	66436474	+	Missense_Mutation	SNP	G	G	A	rs146310422		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66436474G>A	ENST00000525754.1	-	2	1369	c.701C>T	c.(700-702)gCg>gTg	p.A234V	RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.A234V|RBM4B_ENST00000529195.2_5'Flank|RBM4B_ENST00000531969.1_Intron|RP11-658F2.8_ENST00000550837.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	234	Interaction with TNPO3. {ECO:0000250}.|Poly-Ala.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A234V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CGCTGCCGCCGCTGCTACTGC	0.527																																					p.A234V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C701T	11						.	G	VAL/ALA	0,4400		0,0,2200	76.0	71.0	73.0		701	5.9	0.8	11	dbSNP_134	73	1,8589	1.2+/-3.3	0,1,4294	no	missense	RBM4B	NM_031492.2	64	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	234/360	66436474	1,12989	2200	4295	6495	66193050	SO:0001583	missense	83759	exon3			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.701C>T	11.37:g.66436474G>A	ENSP00000433071:p.Ala234Val		66193050	NM_031492	B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775930	0.49786	0.0	1.16E-4	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.25912	1.77;1.77	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000005	T	0.19644	0.0472	L	0.36672	1.1	0.80722	D	1	B	0.33841	0.428	B	0.19391	0.025	T	0.05435	-1.0885	10	0.13470	T	0.59	-22.4295	19.1058	0.93294	0.0:0.0:1.0:0.0	.	234	Q9BQ04	RBM4B_HUMAN	V	234	ENSP00000433071:A234V;ENSP00000310471:A234V	ENSP00000310471:A234V	A	-	2	0	RBM4B	66193050	0.989000	0.36119	0.750000	0.31169	0.541000	0.35023	4.927000	0.63440	2.822000	0.97130	0.650000	0.86243	GCG		0.527	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492	
SPTBN2	6712	broad.mit.edu	37	11	66454566	66454566	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66454566G>A	ENST00000533211.1	-	36	7126	c.6795C>T	c.(6793-6795)agC>agT	p.S2265S	SPTBN2_ENST00000529997.1_Silent_p.S2265S|SPTBN2_ENST00000309996.2_Silent_p.S2265S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2265	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.S2265S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCACTCCCGCGCTGGCTGCCT	0.632																																					p.S2265S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6795T	11						.						81.0	74.0	76.0					11																	66454566		2200	4295	6495	66211142	SO:0001819	synonymous_variant	6712	exon35			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6795C>T	11.37:g.66454566G>A			66211142	NM_006946	O14872|O14873	Silent	SNP	ENST00000533211.1	37	CCDS8150.1																																																																																				0.632	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SPTBN2	6712	broad.mit.edu	37	11	66456216	66456216	+	Missense_Mutation	SNP	C	C	T	rs201985455		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66456216C>T	ENST00000533211.1	-	31	6470	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E2047K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E2047K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2047					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.E2047K(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCTCAACTTCGTCGACCGTG	0.617																																					p.E2047K												SPTBN2,skin,NS,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G6139A	11						.	C	LYS/GLU	0,4400		0,0,2200	69.0	59.0	62.0		6139	4.8	0.9	11		62	1,8589	1.2+/-3.3	0,1,4294	yes	missense	SPTBN2	NM_006946.2	56	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2047/2391	66456216	1,12989	2200	4295	6495	66212792	SO:0001583	missense	6712	exon30			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6139G>A	11.37:g.66456216C>T	ENSP00000432568:p.Glu2047Lys		66212792	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466577	0.84425	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.67698	-0.28;-0.28;-0.28	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.82323	2.585	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	D	0.83940	0.0311	10	0.54805	T	0.06	.	16.7389	0.85454	0.0:1.0:0.0:0.0	.	2047	O15020	SPTN2_HUMAN	K	2047	ENSP00000432568:E2047K;ENSP00000311489:E2047K;ENSP00000433593:E2047K	ENSP00000311489:E2047K	E	-	1	0	SPTBN2	66212792	1.000000	0.71417	0.851000	0.33527	0.058000	0.15608	7.604000	0.82830	2.477000	0.83638	0.591000	0.81541	GAA		0.617	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SPTBN2	6712	broad.mit.edu	37	11	66482812	66482812	+	Missense_Mutation	SNP	C	C	T	rs376084729		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66482812C>T	ENST00000533211.1	-	5	695	c.364G>A	c.(364-366)Gca>Aca	p.A122T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A122T|RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A122T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	122	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A122T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AACTGCAGTGCCTTGTCCACG	0.587																																					p.A122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	11						.	C	THR/ALA	0,4400		0,0,2200	152.0	126.0	135.0		364	4.7	0.9	11		135	1,8589	1.2+/-3.3	0,1,4294	no	missense	SPTBN2	NM_006946.2	58	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	122/2391	66482812	1,12989	2200	4295	6495	66239388	SO:0001583	missense	6712	exon4			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.364G>A	11.37:g.66482812C>T	ENSP00000432568:p.Ala122Thr		66239388	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387890	0.82902	0.0	1.16E-4	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.64085	-0.08;-0.08;-0.08	4.65	4.65	0.58169	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88085	0.2809	10	0.87932	D	0	.	16.4528	0.83997	0.0:1.0:0.0:0.0	.	122	O15020	SPTN2_HUMAN	T	122	ENSP00000432568:A122T;ENSP00000311489:A122T;ENSP00000433593:A122T	ENSP00000311489:A122T	A	-	1	0	SPTBN2	66239388	1.000000	0.71417	0.936000	0.37596	0.158000	0.22134	7.604000	0.82830	2.417000	0.82017	0.561000	0.74099	GCA		0.587	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
RCE1	9986	broad.mit.edu	37	11	66613522	66613522	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:66613522C>A	ENST00000309657.3	+	8	990	c.946C>A	c.(946-948)Ctt>Att	p.L316I	RCE1_ENST00000525356.1_Missense_Mutation_p.L193I|RCE1_ENST00000524506.1_Missense_Mutation_p.L295I|PC_ENST00000528224.1_5'Flank	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	316					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)	p.L316I(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTTTGTGTGCTTTTGGAGCG	0.637																																					p.L316I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C946A	11						.						60.0	65.0	64.0					11																	66613522		2200	4295	6495	66370098	SO:0001583	missense	9986	exon8			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.946C>A	11.37:g.66613522C>A	ENSP00000309163:p.Leu316Ile		66370098	NM_005133	Q52LZ9	Missense_Mutation	SNP	ENST00000309657.3	37	CCDS8151.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936295	0.73442	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	5.04	4.09	0.47781	.	0.078219	0.49916	N	0.000134	T	0.69405	0.3107	L	0.57536	1.79	0.39712	D	0.97134	D	0.63880	0.993	D	0.73708	0.981	T	0.72934	-0.4141	9	0.87932	D	0	-10.623	10.3161	0.43738	0.1964:0.8036:0.0:0.0	.	316	Q9Y256	FACE2_HUMAN	I	316;295;193	.	ENSP00000309163:L316I	L	+	1	0	RCE1	66370098	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	4.469000	0.60169	1.278000	0.44430	0.655000	0.94253	CTT		0.637	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393105.1	NM_005133	
CABP4	57010	broad.mit.edu	37	11	67225907	67225907	+	Silent	SNP	C	C	T	rs145493184	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:67225907C>T	ENST00000325656.5	+	5	794	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Silent_p.L134L	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	239	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)	p.L239L(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGGCTCTGCTCGGGGAGCCGC	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		9576	0.0		0.0	False		,,,				2504	0.0				p.L239L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	11						.	C		4,4396	8.1+/-20.4	0,4,2196	51.0	58.0	55.0		717	-9.7	0.4	11	dbSNP_134	55	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	CABP4	NM_145200.3		0,5,6490	TT,TC,CC		0.0116,0.0909,0.0385		239/276	67225907	5,12985	2200	4295	6495	66982483	SO:0001819	synonymous_variant	57010	exon5			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.717C>T	11.37:g.67225907C>T			66982483	NM_145200	Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	CCDS8166.1																																																																																				0.637	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2		
ALDH3B2	222	broad.mit.edu	37	11	67434115	67434115	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:67434115G>A	ENST00000349015.3	-	4	519	c.81C>T	c.(79-81)gtC>gtT	p.V27V	ALDH3B2_ENST00000530069.1_Silent_p.V27V|ALDH3B2_ENST00000531881.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	27					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.V27V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CGATGATGAGGACCAGGCCAA	0.622																																					p.V27V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T	11						.						101.0	97.0	98.0					11																	67434115		2200	4294	6494	67190691	SO:0001819	synonymous_variant	222	exon4			U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.81C>T	11.37:g.67434115G>A			67190691	NM_000695	Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	CCDS31622.1																																																																																				0.622	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
SUV420H1	51111	broad.mit.edu	37	11	67925807	67925807	+	Missense_Mutation	SNP	G	G	A	rs377489614		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:67925807G>A	ENST00000304363.4	-	11	2359	c.2006C>T	c.(2005-2007)gCt>gTt	p.A669V		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	669					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.A669V(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGGTGAAGGAGCACAGTCTGT	0.498																																					p.A669V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2006T	11						.						90.0	80.0	83.0					11																	67925807		2200	4294	6494	67682383	SO:0001583	missense	51111	exon11			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2006C>T	11.37:g.67925807G>A	ENSP00000305899:p.Ala669Val		67682383	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825095	0.50739	.	.	ENSG00000110066	ENST00000304363	T	0.43294	0.95	5.04	4.05	0.47172	.	0.374676	0.33144	N	0.005230	T	0.23965	0.0580	N	0.19112	0.55	0.22771	N	0.99875	B	0.06786	0.001	B	0.08055	0.003	T	0.05937	-1.0855	10	0.25106	T	0.35	-8.1964	7.4362	0.27156	0.1735:0.0:0.8265:0.0	.	669	Q4FZB7	SV421_HUMAN	V	669	ENSP00000305899:A669V	ENSP00000305899:A669V	A	-	2	0	SUV420H1	67682383	0.095000	0.21747	0.198000	0.23420	0.938000	0.57974	3.266000	0.51569	2.623000	0.88846	0.491000	0.48974	GCT		0.498	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
SUV420H1	51111	broad.mit.edu	37	11	67939085	67939085	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:67939085C>T	ENST00000304363.4	-	7	1098	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N|SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	249	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.D249N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413																																					p.D249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	11						.						129.0	128.0	128.0					11																	67939085		2200	4294	6494	67695661	SO:0001583	missense	51111	exon7			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.745G>A	11.37:g.67939085C>T	ENSP00000305899:p.Asp249Asn		67695661	NM_016028	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139032	0.94560	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.73	4.82	0.62117	SET domain (2);	0.133067	0.64402	N	0.000002	D	0.90017	0.6883	L	0.52011	1.625	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.999;0.343	D;D;D;B	0.91635	0.994;0.999;0.994;0.145	D	0.91014	0.4852	10	0.72032	D	0.01	-32.9519	15.2633	0.73640	0.0:0.9324:0.0:0.0676	.	226;249;249;249	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	N	249;249;249;249;226	ENSP00000305899:D249N;ENSP00000385965:D249N;ENSP00000385640:D249N;ENSP00000385005:D249N;ENSP00000384724:D226N	ENSP00000305899:D249N	D	-	1	0	SUV420H1	67695661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.552000	0.49463	0.655000	0.94253	GAC		0.413	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
SUV420H1	51111	broad.mit.edu	37	11	67957497	67957497	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:67957497C>A	ENST00000304363.4	-	2	400	c.47G>T	c.(46-48)aGa>aTa	p.R16I	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R16I|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R16I|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R16I|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R16I	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	16					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.R16I(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCTCCATTTCTCCTGCCATT	0.478																																					p.R16I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47T	11						.						299.0	255.0	270.0					11																	67957497		2200	4294	6494	67714073	SO:0001583	missense	51111	exon2			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.47G>T	11.37:g.67957497C>A	ENSP00000305899:p.Arg16Ile		67714073	NM_016028	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432194	0.96150	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.61158	0.96;0.96;0.96;0.96;0.13;0.96	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.76494	0.99;0.995;0.997;0.999	D;D;D;D	0.85130	0.944;0.986;0.994;0.997	T	0.72491	-0.4277	10	0.87932	D	0	-36.7089	20.3559	0.98840	0.0:1.0:0.0:0.0	.	16;16;16;16	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	I	16	ENSP00000305899:R16I;ENSP00000385965:R16I;ENSP00000385640:R16I;ENSP00000385005:R16I;ENSP00000384724:R16I;ENSP00000402921:R16I	ENSP00000305899:R16I	R	-	2	0	SUV420H1	67714073	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.556000	0.67307	2.890000	0.99128	0.585000	0.79938	AGA		0.478	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
PPP6R3	55291	broad.mit.edu	37	11	68369342	68369342	+	Missense_Mutation	SNP	C	C	A	rs555381830		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:68369342C>A	ENST00000393800.2	+	21	2458	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	PPP6R3_ENST00000524845.1_Missense_Mutation_p.S706Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S735Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S689Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S655Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S735Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S503Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S729Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S655Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S700Y	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	735					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.S735Y(1)|p.S655Y(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACAAAAGATTCTTTAAGGAGT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		22664	0.0		0.0	False		,,,				2504	0.001				p.S655Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1964A	11						.						93.0	103.0	99.0					11																	68369342		2200	4294	6494	68125918	SO:0001583	missense	55291	exon20			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2204C>A	11.37:g.68369342C>A	ENSP00000377389:p.Ser735Tyr		68125918	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.246018	0.59103	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.91	2.98	0.34508	.	0.222920	0.48286	D	0.000188	T	0.58764	0.2145	L	0.36672	1.1	0.37118	D	0.900651	B;B;D;D;D;P;D;D	0.58620	0.232;0.187;0.98;0.964;0.964;0.939;0.983;0.964	B;B;P;P;P;P;P;P	0.59889	0.229;0.172;0.694;0.601;0.847;0.615;0.865;0.709	T	0.66681	-0.5862	10	0.62326	D	0.03	.	14.9506	0.71071	0.0:0.7283:0.2717:0.0	.	418;503;655;706;729;735;735;655	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	Y	735;735;503;706;689;729;735;655;655;700;442	ENSP00000377388:S735Y;ENSP00000377389:S735Y;ENSP00000434429:S503Y;ENSP00000431415:S706Y;ENSP00000265637:S689Y;ENSP00000433058:S729Y;ENSP00000377390:S735Y;ENSP00000265636:S655Y;ENSP00000437329:S655Y;ENSP00000433565:S700Y;ENSP00000436209:S442Y	ENSP00000265636:S655Y	S	+	2	0	PPP6R3	68125918	1.000000	0.71417	0.696000	0.30242	0.989000	0.77384	5.144000	0.64832	0.623000	0.30267	-0.282000	0.10007	TCT		0.458	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
CPT1A	1374	broad.mit.edu	37	11	68527092	68527092	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:68527092A>G	ENST00000265641.5	-	18	2334	c.2180T>C	c.(2179-2181)gTg>gCg	p.V727A	CPT1A_ENST00000540367.1_Missense_Mutation_p.V727A|CPT1A_ENST00000376618.2_Missense_Mutation_p.V727A|CPT1A_ENST00000539743.1_Missense_Mutation_p.V727A	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	727					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.V727A(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTTCTCTCCCACAAGGATGTA	0.428																																					p.V727A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2180C	11						.						92.0	89.0	90.0					11																	68527092		2200	4294	6494	68283668	SO:0001583	missense	1374	exon18			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2180T>C	11.37:g.68527092A>G	ENSP00000265641:p.Val727Ala		68283668	NM_001031847	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	A	1.083	-0.666482	0.03428	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.75	3.57	0.40892	.	0.425291	0.22855	N	0.054807	T	0.79493	0.4455	N	0.17278	0.47	0.37139	D	0.901608	B;B	0.27380	0.177;0.02	B;B	0.36092	0.217;0.02	T	0.70644	-0.4815	10	0.06236	T	0.91	.	10.7691	0.46312	0.8577:0.0:0.0:0.1423	.	727;727	P50416;P50416-2	CPT1A_HUMAN;.	A	727	ENSP00000439084:V727A;ENSP00000365803:V727A;ENSP00000265641:V727A;ENSP00000446108:V727A	ENSP00000265641:V727A	V	-	2	0	CPT1A	68283668	0.999000	0.42202	0.501000	0.27601	0.415000	0.31203	8.656000	0.91102	0.901000	0.36495	0.459000	0.35465	GTG		0.428	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
MRGPRD	116512	broad.mit.edu	37	11	68748274	68748274	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:68748274A>C	ENST00000309106.3	-	1	181	c.182T>G	c.(181-183)tTc>tGc	p.F61C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	61						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F61C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATAGATGCAGAAGGGGTTCCT	0.592																																					p.F61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T182G	11						.						66.0	68.0	67.0					11																	68748274		2200	4294	6494	68504850	SO:0001583	missense	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.182T>G	11.37:g.68748274A>C	ENSP00000310631:p.Phe61Cys		68504850	NM_198923	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946445	0.34377	.	.	ENSG00000172938	ENST00000309106	T	0.16073	2.37	5.17	-0.534	0.11883	GPCR, rhodopsin-like superfamily (1);	0.517384	0.15912	U	0.238573	T	0.29749	0.0743	M	0.91920	3.255	0.26931	N	0.96646	P	0.40970	0.734	P	0.48571	0.582	T	0.21109	-1.0255	10	0.52906	T	0.07	-23.5033	1.5691	0.02611	0.3509:0.1631:0.0815:0.4045	.	61	Q8TDS7	MRGRD_HUMAN	C	61	ENSP00000310631:F61C	ENSP00000310631:F61C	F	-	2	0	MRGPRD	68504850	0.258000	0.24033	0.414000	0.26521	0.020000	0.10135	0.118000	0.15605	-0.036000	0.13669	0.383000	0.25322	TTC		0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
FGF19	9965	broad.mit.edu	37	11	69514117	69514117	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:69514117G>T	ENST00000294312.3	-	3	1329	c.564C>A	c.(562-564)ttC>ttA	p.F188L		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	188					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bile acid biosynthetic process (GO:0070858)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of JNK cascade (GO:0046330)	extracellular region (GO:0005576)	fibroblast growth factor receptor binding (GO:0005104)	p.F188L(1)		large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GGGGCGAAGAGAACATGTCAG	0.572																																					p.F188L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C564A	11						.						103.0	100.0	101.0					11																	69514117		2200	4294	6494	69223298	SO:0001583	missense	9965	exon3			AB018122	CCDS8193.1	11q13.1	2008-02-01			ENSG00000162344	ENSG00000162344			3675	protein-coding gene	gene with protein product		603891				9931477, 10525310	Standard	NM_005117		Approved		uc001opf.3	O95750	OTTHUMG00000167886	ENST00000294312.3:c.564C>A	11.37:g.69514117G>T	ENSP00000294312:p.Phe188Leu		69223298	NM_005117		Missense_Mutation	SNP	ENST00000294312.3	37	CCDS8193.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416264	0.42918	.	.	ENSG00000162344	ENST00000294312	T	0.76316	-1.01	5.22	-1.64	0.08318	.	1.049570	0.07421	N	0.894011	T	0.55862	0.1947	N	0.17082	0.46	0.09310	N	1	P	0.37330	0.59	B	0.30251	0.113	T	0.43393	-0.9394	10	0.27082	T	0.32	-26.5021	7.774	0.29026	0.2071:0.233:0.5599:0.0	.	188	O95750	FGF19_HUMAN	L	188	ENSP00000294312:F188L	ENSP00000294312:F188L	F	-	3	2	FGF19	69223298	0.026000	0.19158	0.001000	0.08648	0.405000	0.30901	0.127000	0.15790	0.104000	0.17725	0.555000	0.69702	TTC		0.572	FGF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396833.1	NM_005117	
PPFIA1	8500	broad.mit.edu	37	11	70172707	70172707	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:70172707C>A	ENST00000253925.7	+	7	928	c.713C>A	c.(712-714)tCt>tAt	p.S238Y	PPFIA1_ENST00000389547.3_Missense_Mutation_p.S238Y|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	238					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.S238Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TATCAGAGATCTTCTGATGGT	0.353																																					p.S238Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C713A	11						.						174.0	192.0	186.0					11																	70172707		2200	4294	6494	69850355	SO:0001583	missense	8500	exon7			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.713C>A	11.37:g.70172707C>A	ENSP00000253925:p.Ser238Tyr		69850355	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551764	0.13374	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.39997	1.05;1.05	4.67	4.67	0.58626	.	0.414999	0.23797	U	0.044467	T	0.32315	0.0825	N	0.14661	0.345	0.29078	N	0.882889	B;B	0.26744	0.158;0.001	B;B	0.32149	0.141;0.016	T	0.29792	-1.0000	10	0.42905	T	0.14	.	17.9762	0.89128	0.0:1.0:0.0:0.0	.	238;238	Q13136;Q13136-2	LIPA1_HUMAN;.	Y	238	ENSP00000253925:S238Y;ENSP00000374198:S238Y	ENSP00000253925:S238Y	S	+	2	0	PPFIA1	69850355	0.914000	0.31030	0.976000	0.42696	0.810000	0.45777	1.974000	0.40559	2.309000	0.77851	0.655000	0.94253	TCT		0.353	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
PPFIA1	8500	broad.mit.edu	37	11	70224285	70224285	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:70224285G>T	ENST00000253925.7	+	26	3749	c.3534G>T	c.(3532-3534)aaG>aaT	p.K1178N	PPFIA1_ENST00000389547.3_Missense_Mutation_p.K1178N|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000524619.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1178					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.K1178N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGCAGCCAAAGAAGATGCAGA	0.488																																					p.K1178N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3534T	11						.						127.0	112.0	117.0					11																	70224285		2200	4294	6494	69901933	SO:0001583	missense	8500	exon26			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3534G>T	11.37:g.70224285G>T	ENSP00000253925:p.Lys1178Asn		69901933	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216298	0.95104	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950;ENST00000528853	T;T	0.20463	2.13;2.07	4.55	4.55	0.56014	.	0.062566	0.64402	U	0.000007	T	0.30696	0.0773	L	0.59436	1.845	0.50171	D	0.999854	B;B;P	0.40731	0.019;0.104;0.728	B;B;P	0.44359	0.019;0.059;0.447	T	0.16988	-1.0384	10	0.87932	D	0	.	17.3212	0.87236	0.0:0.0:1.0:0.0	.	675;1178;1178	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	1178;1178;675;34	ENSP00000253925:K1178N;ENSP00000374198:K1178N	ENSP00000253925:K1178N	K	+	3	2	PPFIA1	69901933	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.662000	0.83803	2.095000	0.63458	0.561000	0.74099	AAG		0.488	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
CTTN	2017	broad.mit.edu	37	11	70265868	70265868	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:70265868C>T	ENST00000301843.8	+	9	791	c.585C>T	c.(583-585)ttC>ttT	p.F195F	CTTN_ENST00000346329.3_Silent_p.F195F|CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000376561.3_Silent_p.F195F	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	195					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.F195F(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAAGGTTTCGGCGGCAAAT	0.398																																					p.F195F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	11						.						63.0	61.0	62.0					11																	70265868		2200	4294	6494	69943516	SO:0001819	synonymous_variant	2017	exon9			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.585C>T	11.37:g.70265868C>T			69943516	NM_005231	Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332785	0.05314	.	.	ENSG00000085733	ENST00000415461	.	.	.	5.01	-1.48	0.08745	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52419	-0.8578	4	.	.	.	-19.8223	10.8041	0.46507	0.0:0.335:0.0:0.665	.	.	.	.	L	177	.	.	S	+	2	0	CTTN	69943516	0.175000	0.23083	0.715000	0.30552	0.153000	0.21895	-0.539000	0.06113	-0.480000	0.06803	-1.074000	0.02243	TCG		0.398	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
CTTN	2017	broad.mit.edu	37	11	70279774	70279774	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:70279774A>G	ENST00000301843.8	+	17	1672	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C	CTTN_ENST00000346329.3_Missense_Mutation_p.Y452C|CTTN_ENST00000538675.1_Missense_Mutation_p.Y173C|CTTN_ENST00000376561.3_Missense_Mutation_p.Y452C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	489					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)		p.Y489C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TACGATGAGTACGAGAACGAT	0.547																																					p.Y489C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1466G	11						.						153.0	147.0	149.0					11																	70279774		2200	4294	6494	69957422	SO:0001583	missense	2017	exon17			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1466A>G	11.37:g.70279774A>G	ENSP00000301843:p.Tyr489Cys		69957422	NM_005231	Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597268	0.46318	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.33865	1.44;1.45;1.39;1.77;1.76	4.96	3.83	0.44106	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.68593	2.085	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;P	0.91635	0.999;0.995;0.972;0.887	T	0.50898	-0.8773	10	0.41790	T	0.15	-18.6328	10.5254	0.44945	0.9235:0.0:0.0765:0.0	.	173;452;489;452	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	C	452;489;452;173;146	ENSP00000317189:Y452C;ENSP00000301843:Y489C;ENSP00000365745:Y452C;ENSP00000439762:Y173C;ENSP00000431421:Y146C	ENSP00000301843:Y489C	Y	+	2	0	CTTN	69957422	1.000000	0.71417	0.052000	0.19188	0.506000	0.33950	6.409000	0.73289	0.741000	0.32674	0.529000	0.55759	TAC		0.547	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
IL18BP	10068	broad.mit.edu	37	11	71712298	71712298	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:71712298G>T	ENST00000393703.4	+	4	824	c.287G>T	c.(286-288)aGc>aTc	p.S96I	IL18BP_ENST00000337131.5_Missense_Mutation_p.S96I|IL18BP_ENST00000260049.5_Missense_Mutation_p.S96I|IL18BP_ENST00000531053.1_Missense_Mutation_p.S96I|IL18BP_ENST00000404792.1_Missense_Mutation_p.S96I|IL18BP_ENST00000497194.2_Missense_Mutation_p.S96I|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000393705.4_Missense_Mutation_p.S96I	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	96	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.S96I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCCAACTTCAGCATCCTCTAC	0.612																																					p.S96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287T	11						.						53.0	57.0	56.0					11																	71712298		2096	4207	6303	71389946	SO:0001583	missense	10068	exon4			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.287G>T	11.37:g.71712298G>T	ENSP00000377306:p.Ser96Ile		71389946	NM_001039660	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332104	0.60853	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.64	0.5	0.16919	Immunoglobulin-like (1);	0.445990	0.22959	N	0.053571	T	0.42314	0.1197	M	0.71581	2.175	0.29485	N	0.856037	D;D	0.76494	0.998;0.999	D;D	0.67548	0.93;0.952	T	0.35001	-0.9806	10	0.87932	D	0	-3.9242	7.9028	0.29744	0.4682:0.0:0.5318:0.0	.	96;96	G3V1C5;O95998	.;I18BP_HUMAN	I	96	ENSP00000377306:S96I;ENSP00000434717:S96I;ENSP00000377308:S96I;ENSP00000338723:S96I;ENSP00000434835:S96I;ENSP00000384212:S96I;ENSP00000260049:S96I	ENSP00000260049:S96I	S	+	2	0	IL18BP	71389946	0.649000	0.27322	0.994000	0.49952	0.864000	0.49448	0.452000	0.21795	-0.067000	0.12976	0.561000	0.74099	AGC		0.612	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
IL18BP	10068	broad.mit.edu	37	11	71715795	71715795	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:71715795C>T	ENST00000393703.4	+	0	1788				NUMA1_ENST00000351960.6_Missense_Mutation_p.R830H|NUMA1_ENST00000393695.3_Missense_Mutation_p.R1966H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1952H	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.R1966H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGGCTCGGCGCAGGGTCTC	0.627																																					p.R1966H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5897A	11						.						44.0	44.0	44.0					11																	71715795		2200	4293	6493	71393443	SO:0001628	intergenic_variant	4926	exon24			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715795C>T			71393443	NM_006185	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.231003|5.231003	0.95207|0.95207	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.35789	.|1.29;1.72;1.71	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.56097	.|D	.|0.000034	T|T	0.51839|0.51839	0.1698|0.1698	L|L	0.32530|0.32530	0.975|0.975	0.46478|0.46478	D|D	0.99906|0.99906	.|D;D;D;D	.|0.89917	.|0.995;1.0;0.995;0.99	.|P;D;P;P	.|0.91635	.|0.88;0.999;0.88;0.787	T|T	0.54774|0.54774	-0.8243|-0.8243	5|10	.|0.87932	.|D	.|0	.|.	18.5904|18.5904	0.91210|0.91210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1972;1952;1966;830	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	T|H	815|830;1952;1966;1515;939	.|ENSP00000260051:R830H;ENSP00000351851:R1952H;ENSP00000377298:R1966H	.|ENSP00000260051:R830H	A|R	-|-	1|2	0|0	NUMA1|NUMA1	71393443|71393443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.246000|3.246000	0.51414|0.51414	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.627	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042	
NUMA1	4926	broad.mit.edu	37	11	71728806	71728806	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:71728806C>A	ENST00000393695.3	-	13	1377	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	NUMA1_ENST00000351960.6_Missense_Mutation_p.S349I|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.S349I	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.S349I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGTGGCCTTGCTGTGCTCCTC	0.607			T	RARA	APL																																p.S349I			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1046T	11						.						81.0	72.0	75.0					11																	71728806		2200	4293	6493	71406454	SO:0001583	missense	4926	exon13			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1046G>T	11.37:g.71728806C>A	ENSP00000377298:p.Ser349Ile		71406454	NM_006185		Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940767	0.52972	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.46819	2.19;2.66;2.66;1.44;0.86	5.35	4.24	0.50183	.	0.551376	0.20904	N	0.083595	T	0.51719	0.1691	L	0.53249	1.67	0.26471	N	0.975282	P;D;D;P;P;B	0.56968	0.898;0.978;0.978;0.514;0.874;0.32	P;P;P;B;B;B	0.55508	0.736;0.777;0.777;0.264;0.347;0.147	T	0.48547	-0.9026	10	0.62326	D	0.03	.	6.0444	0.19752	0.0:0.6552:0.1753:0.1695	.	349;349;349;349;349;349	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	I	349	ENSP00000260051:S349I;ENSP00000351851:S349I;ENSP00000377298:S349I;ENSP00000444880:S349I;ENSP00000442936:S349I	ENSP00000260051:S349I	S	-	2	0	NUMA1	71406454	0.739000	0.28196	1.000000	0.80357	0.359000	0.29487	0.248000	0.18198	2.504000	0.84457	0.655000	0.94253	AGC		0.607	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
FOLR2	2350	broad.mit.edu	37	11	71932698	71932698	+	Silent	SNP	G	G	A	rs1803567		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:71932698G>A	ENST00000298223.6	+	5	847	c.660G>A	c.(658-660)gcG>gcA	p.A220A	FOLR2_ENST00000449475.2_Silent_p.A216A|FOLR2_ENST00000454954.2_Silent_p.A179A	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	220					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)	p.A220A(1)		breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	AGGAAGTGGCGAGGTTCTATG	0.582																																					p.A220A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660A	11						.						94.0	91.0	92.0					11																	71932698		2200	4293	6493	71610346	SO:0001819	synonymous_variant	2350	exon5			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.660G>A	11.37:g.71932698G>A			71610346	NM_001113536	Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	g	3.165	-0.171168	0.06421	.	.	ENSG00000165457	ENST00000413873	.	.	.	4.58	-9.15	0.00698	.	.	.	.	.	T	0.49712	0.1573	.	.	.	0.49915	D	0.999833	.	.	.	.	.	.	T	0.61997	-0.6947	5	0.87932	D	0	.	3.0134	0.06052	0.2068:0.4228:0.1118:0.2586	.	.	.	.	Q	234	.	ENSP00000412980:R234Q	R	+	2	0	FOLR2	71610346	0.000000	0.05858	0.018000	0.16275	0.548000	0.35241	-4.792000	0.00185	-1.783000	0.01274	-1.244000	0.01528	CGA		0.582	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803	
FCHSD2	9873	broad.mit.edu	37	11	72553794	72553794	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:72553794C>A	ENST00000409418.4	-	17	2181	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000311172.7_Nonsense_Mutation_p.E544*|FCHSD2_ENST00000409314.1_Nonsense_Mutation_p.E624*|FCHSD2_ENST00000458644.2_Nonsense_Mutation_p.E464*	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	600	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.E544*(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTTGGTTTTCTTTGTTCAAG	0.428																																					p.E600X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1798T	11						.						137.0	133.0	134.0					11																	72553794		2200	4293	6493	72231442	SO:0001587	stop_gained	9873	exon17			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1798G>T	11.37:g.72553794C>A	ENSP00000386722:p.Glu600*		72231442	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Nonsense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	42	9.202047	0.99099	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644	.	.	.	6.03	6.03	0.97812	.	0.163796	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.3241	19.5548	0.95338	0.0:1.0:0.0:0.0	.	.	.	.	X	544;624;600;464	.	ENSP00000308978:E544X	E	-	1	0	FCHSD2	72231442	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.697000	0.68295	2.854000	0.98071	0.655000	0.94253	GAA		0.428	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
FCHSD2	9873	broad.mit.edu	37	11	72560840	72560840	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:72560840C>A	ENST00000409418.4	-	14	1786	c.1403G>T	c.(1402-1404)aGa>aTa	p.R468I	FCHSD2_ENST00000311172.7_Missense_Mutation_p.R412I|FCHSD2_ENST00000409853.1_Missense_Mutation_p.R412I|FCHSD2_ENST00000409314.1_Missense_Mutation_p.R492I|FCHSD2_ENST00000458644.2_Missense_Mutation_p.R332I	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	468								p.R412I(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TGGATAATTTCTTAAGGTGCC	0.373																																					p.R468I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1403T	11						.						145.0	154.0	151.0					11																	72560840		2200	4293	6493	72238488	SO:0001583	missense	9873	exon14			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1403G>T	11.37:g.72560840C>A	ENSP00000386722:p.Arg468Ile		72238488	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	31	5.062240	0.93846	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.50548	2.36;2.49;2.51;2.37;0.74	5.33	5.33	0.75918	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.74258	2.255	0.80722	D	1	D;D;D	0.69078	0.997;0.988;0.993	P;P;P	0.62298	0.83;0.797;0.9	T	0.69815	-0.5043	10	0.54805	T	0.06	-5.7345	18.0092	0.89218	0.0:1.0:0.0:0.0	.	332;468;412	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	I	412;492;468;332;412	ENSP00000308978:R412I;ENSP00000386987:R492I;ENSP00000386722:R468I;ENSP00000402972:R332I;ENSP00000386314:R412I	ENSP00000308978:R412I	R	-	2	0	FCHSD2	72238488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.730000	0.68546	2.490000	0.84030	0.650000	0.86243	AGA		0.373	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
FCHSD2	9873	broad.mit.edu	37	11	72579065	72579065	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:72579065T>G	ENST00000409418.4	-	13	1536	c.1153A>C	c.(1153-1155)Aaa>Caa	p.K385Q	RNU6-672P_ENST00000383911.1_RNA|FCHSD2_ENST00000311172.7_Missense_Mutation_p.K329Q|FCHSD2_ENST00000409853.1_Missense_Mutation_p.K329Q|FCHSD2_ENST00000409314.1_Missense_Mutation_p.K409Q|FCHSD2_ENST00000458644.2_Missense_Mutation_p.K249Q	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	385								p.K329Q(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCTTTCAATTTAATTATCTAG	0.403																																					p.K385Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1153C	11						.						29.0	29.0	29.0					11																	72579065		2162	4217	6379	72256713	SO:0001583	missense	9873	exon13			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1153A>C	11.37:g.72579065T>G	ENSP00000386722:p.Lys385Gln		72256713	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567559	0.65651	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.54071	2.17;2.24;2.42;2.09;0.59	5.87	5.87	0.94306	.	0.101328	0.64402	D	0.000002	T	0.66489	0.2794	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.62586	-0.6823	10	0.28530	T	0.3	-19.4599	15.4512	0.75274	0.0:0.0:0.0:1.0	.	249;385;329	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	Q	329;409;385;249;329	ENSP00000308978:K329Q;ENSP00000386987:K409Q;ENSP00000386722:K385Q;ENSP00000402972:K249Q;ENSP00000386314:K329Q	ENSP00000308978:K329Q	K	-	1	0	FCHSD2	72256713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.698000	0.84413	2.248000	0.74166	0.533000	0.62120	AAA		0.403	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
FCHSD2	9873	broad.mit.edu	37	11	72700017	72700017	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:72700017G>A	ENST00000409418.4	-	6	896	c.513C>T	c.(511-513)atC>atT	p.I171I	FCHSD2_ENST00000311172.7_Silent_p.I115I|FCHSD2_ENST00000409853.1_Silent_p.I115I|FCHSD2_ENST00000409314.1_Silent_p.I171I|FCHSD2_ENST00000458644.2_Silent_p.I11I	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	171								p.I115I(1)		endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTTTGCCTCGATGTCAGCTT	0.343																																					p.I171I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C513T	11						.						194.0	164.0	174.0					11																	72700017		2198	4291	6489	72377665	SO:0001819	synonymous_variant	9873	exon6			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.513C>T	11.37:g.72700017G>A			72377665	NM_014824	B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	G	9.397	1.077133	0.20227	.	.	ENSG00000137478	ENST00000543644	.	.	.	5.5	2.18	0.27775	.	.	.	.	.	T	0.46927	0.1418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31916	-0.9926	4	.	.	.	-28.9911	4.3027	0.10932	0.3258:0.0:0.5124:0.1618	.	.	.	.	L	14	.	.	S	-	2	0	FCHSD2	72377665	0.118000	0.22208	1.000000	0.80357	0.985000	0.73830	-0.552000	0.06020	0.709000	0.31976	0.462000	0.41574	TCG		0.343	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	
ARHGEF17	9828	broad.mit.edu	37	11	73020614	73020614	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73020614G>A	ENST00000263674.3	+	1	1281	c.931G>A	c.(931-933)Gat>Aat	p.D311N	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	311					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D311N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCCTGACAGTGATGGGTTAAA	0.617																																					p.D311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	11						.						46.0	58.0	54.0					11																	73020614		2198	4291	6489	72698262	SO:0001583	missense	9828	exon1			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.931G>A	11.37:g.73020614G>A	ENSP00000263674:p.Asp311Asn		72698262	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615845	0.46631	.	.	ENSG00000110237	ENST00000263674	T	0.58506	0.33	4.72	3.77	0.43336	.	0.626707	0.13224	N	0.404124	T	0.42426	0.1202	N	0.19112	0.55	0.29512	N	0.854118	B	0.19583	0.037	B	0.18871	0.023	T	0.37865	-0.9687	10	0.42905	T	0.14	-1.937	10.8288	0.46649	0.0:0.0:0.7699:0.2301	.	311	Q96PE2	ARHGH_HUMAN	N	311	ENSP00000263674:D311N	ENSP00000263674:D311N	D	+	1	0	ARHGEF17	72698262	0.999000	0.42202	0.992000	0.48379	0.665000	0.39181	1.995000	0.40767	0.895000	0.36342	0.313000	0.20887	GAT		0.617	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
PLEKHB1	58473	broad.mit.edu	37	11	73372620	73372620	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73372620G>A	ENST00000354190.5	+	8	1136	c.705G>A	c.(703-705)tcG>tcA	p.S235S	PLEKHB1_ENST00000398492.4_Silent_p.S200S|PLEKHB1_ENST00000543085.1_Silent_p.S130S|PLEKHB1_ENST00000535129.1_Silent_p.S181S|PLEKHB1_ENST00000227214.6_Silent_p.S181S|PLEKHB1_ENST00000398494.4_Silent_p.S216S|Y_RNA_ENST00000516923.1_RNA	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	235					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.S235S(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CGCTGGGCTCGCTCATGTGGT	0.667											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S235S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G705A	11						.						52.0	59.0	57.0					11																	73372620		2039	4190	6229	73050268	SO:0001819	synonymous_variant	58473	exon8			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.705G>A	11.37:g.73372620G>A		1144	73050268	NM_021200	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Silent	SNP	ENST00000354190.5	37	CCDS44672.1																																																																																				0.667	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1		
C2CD3	26005	broad.mit.edu	37	11	73753122	73753122	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73753122T>G	ENST00000334126.7	-	29	5863	c.5637A>C	c.(5635-5637)caA>caC	p.Q1879H	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q1879H			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1879					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.Q1879H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAATGGAGGTTTGGGAGGACA	0.483																																					p.Q1879H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5637C	11						.						210.0	179.0	189.0					11																	73753122		2200	4293	6493	73430770	SO:0001583	missense	26005	exon29			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5637A>C	11.37:g.73753122T>G	ENSP00000334379:p.Gln1879His		73430770	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.809|7.809	0.715271|0.715271	0.15306|0.15306	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000538361|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	.|T;T;T	.|0.14144	.|2.95;2.95;2.53	5.82|5.82	-1.66|-1.66	0.08265|0.08265	.|.	.|0.635660	.|0.17829	.|N	.|0.160603	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.01267|0.01267	-0.92|-0.92	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.39722|0.39722	-0.9600|-0.9600	5|10	.|0.22109	.|T	.|0.4	2.7702|2.7702	3.9707|3.9707	0.09452|0.09452	0.3051:0.1154:0.4586:0.1209|0.3051:0.1154:0.4586:0.1209	.|.	.|1879	.|Q4AC94-1	.|.	H|H	113|1879;1879;1860;687	.|ENSP00000334379:Q1879H;ENSP00000323339:Q1879H;ENSP00000388750:Q687H	.|ENSP00000323339:Q1879H	N|Q	-|-	1|3	0|2	C2CD3|C2CD3	73430770|73430770	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.967000|0.967000	0.64934|0.64934	-2.877000|-2.877000	0.00717|0.00717	-0.294000|-0.294000	0.08973|0.08973	-0.672000|-0.672000	0.03802|0.03802	AAC|CAA		0.483	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2CD3	26005	broad.mit.edu	37	11	73789470	73789470	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73789470C>A	ENST00000334126.7	-	23	4519	c.4293G>T	c.(4291-4293)aaG>aaT	p.K1431N	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1431N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1431					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.K1431N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AATATGTATTCTTATGAATGT	0.478																																					p.K1431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4293T	11						.						71.0	66.0	68.0					11																	73789470		2200	4293	6493	73467118	SO:0001583	missense	26005	exon23			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4293G>T	11.37:g.73789470C>A	ENSP00000334379:p.Lys1431Asn		73467118	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	16.74	3.206047	0.58234	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	D;D;D	0.87571	-2.27;-2.27;-2.27	5.35	5.35	0.76521	.	0.172954	0.51477	D	0.000089	D	0.89719	0.6796	L	0.60455	1.87	0.32017	N	0.601329	D	0.71674	0.998	D	0.64237	0.923	D	0.90145	0.4216	10	0.66056	D	0.02	-11.1805	7.3573	0.26727	0.0:0.7921:0.0:0.2079	.	1431	Q4AC94-1	.	N	1431;1431;1412;239	ENSP00000334379:K1431N;ENSP00000323339:K1431N;ENSP00000388750:K239N	ENSP00000323339:K1431N	K	-	3	2	C2CD3	73467118	1.000000	0.71417	0.994000	0.49952	0.674000	0.39518	1.953000	0.40352	2.502000	0.84385	0.650000	0.86243	AAG		0.478	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2CD3	26005	broad.mit.edu	37	11	73789536	73789536	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73789536G>A	ENST00000334126.7	-	23	4453	c.4227C>T	c.(4225-4227)atC>atT	p.I1409I	C2CD3_ENST00000313663.7_Silent_p.I1409I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1409					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.I1409I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGGGGTGGAGATGGTGACAG	0.502																																					p.I1409I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4227T	11						.						66.0	62.0	63.0					11																	73789536		2200	4293	6493	73467184	SO:0001819	synonymous_variant	26005	exon23			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4227C>T	11.37:g.73789536G>A			73467184	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37																																																																																					0.502	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
C2CD3	26005	broad.mit.edu	37	11	73829279	73829279	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:73829279C>A	ENST00000334126.7	-	9	1740	c.1514G>T	c.(1513-1515)aGa>aTa	p.R505I	C2CD3_ENST00000313663.7_Missense_Mutation_p.R505I			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	505					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.R505I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCACCTATTTCTCTTGCCTGC	0.423																																					p.R505I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514T	11						.						105.0	99.0	101.0					11																	73829279		2200	4293	6493	73506927	SO:0001583	missense	26005	exon9			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1514G>T	11.37:g.73829279C>A	ENSP00000334379:p.Arg505Ile		73506927	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	C	12.57	1.976596	0.34848	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09538	2.97;2.97	5.78	2.2	0.27929	.	0.222683	0.44285	D	0.000466	T	0.05686	0.0149	N	0.08118	0	0.20489	N	0.999899	B;P	0.35923	0.003;0.528	B;B	0.37943	0.004;0.261	T	0.32929	-0.9888	10	0.40728	T	0.16	-5.5186	8.3545	0.32323	0.0:0.3013:0.0:0.6987	.	505;505	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	I	505	ENSP00000334379:R505I;ENSP00000323339:R505I	ENSP00000323339:R505I	R	-	2	0	C2CD3	73506927	0.999000	0.42202	0.772000	0.31596	0.747000	0.42532	1.304000	0.33482	0.127000	0.18452	-1.273000	0.01405	AGA		0.423	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
P4HA3	283208	broad.mit.edu	37	11	74015429	74015429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74015429C>A	ENST00000331597.4	-	2	274	c.229G>T	c.(229-231)Gag>Tag	p.E77*	P4HA3_ENST00000427714.2_Nonsense_Mutation_p.E77*	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	77						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.E77*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTTGAATCCTCATGCAAAGAA	0.483																																					p.E77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G229T	11						.						140.0	134.0	136.0					11																	74015429		2200	4293	6493	73693077	SO:0001587	stop_gained	283208	exon2			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.229G>T	11.37:g.74015429C>A	ENSP00000332170:p.Glu77*		73693077	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Nonsense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755832	0.49362	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	.	.	.	5.79	2.71	0.32032	.	0.486061	0.22798	N	0.055518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.1017	6.0909	0.19993	0.0:0.5794:0.2534:0.1672	.	.	.	.	X	77	.	ENSP00000332170:E77X	E	-	1	0	P4HA3	73693077	0.984000	0.35163	1.000000	0.80357	0.158000	0.22134	0.958000	0.29227	1.439000	0.47511	-0.140000	0.14226	GAG		0.483	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	
PGM2L1	283209	broad.mit.edu	37	11	74047777	74047777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74047777C>A	ENST00000298198.4	-	14	2100	c.1789G>T	c.(1789-1791)Gaa>Taa	p.E597*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	597					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.E597*(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCTTCAGTTCTTCCTCCAGT	0.338																																					p.E597X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1789T	11						.						107.0	96.0	100.0					11																	74047777		2200	4293	6493	73725425	SO:0001587	stop_gained	283209	exon14			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1789G>T	11.37:g.74047777C>A	ENSP00000298198:p.Glu597*		73725425	NM_173582	Q96MQ7|Q9UIK3	Nonsense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	39	7.845117	0.98522	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.38	4.45	0.53987	.	0.053464	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.3654	14.0603	0.64795	0.0:0.8476:0.1524:0.0	.	.	.	.	X	597	.	ENSP00000298198:E597X	E	-	1	0	PGM2L1	73725425	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.437000	0.52863	1.359000	0.45940	0.563000	0.77884	GAA		0.338	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	
PGM2L1	283209	broad.mit.edu	37	11	74056556	74056556	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74056556T>G	ENST00000298198.4	-	9	1487	c.1176A>C	c.(1174-1176)aaA>aaC	p.K392N		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	392					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.K392N(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTTCAGAATTTTAGAAGAGA	0.318																																					p.K392N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1176C	11						.						103.0	98.0	99.0					11																	74056556		2200	4293	6493	73734204	SO:0001583	missense	283209	exon9			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1176A>C	11.37:g.74056556T>G	ENSP00000298198:p.Lys392Asn		73734204	NM_173582	Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757239	0.69648	.	.	ENSG00000165434	ENST00000298198	T	0.42900	0.96	5.25	5.25	0.73442	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.48174	1.505	0.47584	D	0.999464	P	0.37731	0.607	B	0.42163	0.378	T	0.25847	-1.0120	10	0.34782	T	0.22	-21.6555	13.4021	0.60889	0.0:0.0:0.0:1.0	.	392	Q6PCE3	PGM2L_HUMAN	N	392	ENSP00000298198:K392N	ENSP00000298198:K392N	K	-	3	2	PGM2L1	73734204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.689000	0.25437	2.096000	0.63516	0.528000	0.53228	AAA		0.318	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582	
POLD3	10714	broad.mit.edu	37	11	74329822	74329822	+	Silent	SNP	G	G	A	rs370291355		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74329822G>A	ENST00000263681.2	+	6	762	c.633G>A	c.(631-633)acG>acA	p.T211T	POLD3_ENST00000527458.1_Silent_p.T172T|POLD3_ENST00000532497.1_Silent_p.T105T	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	211					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)	p.T211T(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACAAGGAAACGAAAACAGAGG	0.443																																					p.T211T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G633A	11						.	G		0,4400		0,0,2200	72.0	69.0	70.0		633	-0.1	1.0	11		70	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	POLD3	NM_006591.1		0,1,6492	AA,AG,GG		0.0116,0.0,0.0077		211/467	74329822	1,12985	2200	4293	6493	74007470	SO:0001819	synonymous_variant	10714	exon6			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.633G>A	11.37:g.74329822G>A			74007470	NM_006591	B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	ENST00000263681.2	37	CCDS8233.1																																																																																				0.443	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591	
CHRDL2	25884	broad.mit.edu	37	11	74429789	74429789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74429789G>T	ENST00000376332.3	-	2	667	c.171C>A	c.(169-171)taC>taA	p.Y57*	MIR4696_ENST00000581431.1_RNA|CHRDL2_ENST00000534159.1_5'UTR|SNORD43_ENST00000390975.1_RNA|CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.Y57*	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	57	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.Y57*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGCGCAGGCAGTACATCAGGC	0.587																																					p.Y57X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C171A	11						.						80.0	61.0	68.0					11																	74429789		2200	4293	6493	74107437	SO:0001587	stop_gained	25884	exon2			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.171C>A	11.37:g.74429789G>T	ENSP00000365510:p.Tyr57*		74107437	NM_015424	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP	ENST00000376332.3	37		.	.	.	.	.	.	.	.	.	.	G	40	8.369798	0.98781	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	.	.	.	5.47	2.61	0.31194	.	0.073354	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-30.4021	8.9331	0.35684	0.2453:0.0:0.7547:0.0	.	.	.	.	X	57	.	ENSP00000263671:Y57X	Y	-	3	2	CHRDL2	74107437	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.311000	0.59147	0.294000	0.22547	0.561000	0.74099	TAC		0.587	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
RNF169	254225	broad.mit.edu	37	11	74546777	74546777	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74546777G>A	ENST00000299563.4	+	6	1142	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	377					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.E377K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGCATCTCCGAAGAACTAAA	0.502																																					p.E377K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1129A	11						.						169.0	174.0	172.0					11																	74546777		2046	4200	6246	74224425	SO:0001583	missense	254225	exon6			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1129G>A	11.37:g.74546777G>A	ENSP00000299563:p.Glu377Lys		74224425	NM_001098638	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094166	0.94149	.	.	ENSG00000166439	ENST00000299563	T	0.56611	0.45	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75941	-0.3140	10	0.87932	D	0	-39.5918	18.1147	0.89549	0.0:0.0:1.0:0.0	.	377	Q8NCN4	RN169_HUMAN	K	377	ENSP00000299563:E377K	ENSP00000299563:E377K	E	+	1	0	RNF169	74224425	1.000000	0.71417	0.969000	0.41365	0.983000	0.72400	9.164000	0.94755	2.882000	0.98803	0.655000	0.94253	GAA		0.502	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886	
XRRA1	143570	broad.mit.edu	37	11	74570303	74570303	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74570303G>T	ENST00000340360.6	-	12	1377	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.P349H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTCGAATATGGGAGGAAGTGA	0.478																																					p.P349H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1046A	11						.						61.0	61.0	61.0					11																	74570303		1876	4103	5979	74247951	SO:0001583	missense	143570	exon12			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1046C>A	11.37:g.74570303G>T	ENSP00000339918:p.Pro349His		74247951	NM_182969		Missense_Mutation	SNP	ENST00000340360.6	37	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405714	0.62288	.	.	ENSG00000166435	ENST00000340360;ENST00000344880	T	0.52295	0.67	5.97	5.97	0.96955	.	.	.	.	.	T	0.60728	0.2291	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.58820	0.846	T	0.60244	-0.7301	9	0.59425	D	0.04	-13.1437	15.924	0.79597	0.0:0.0:1.0:0.0	.	349	Q6P2D8	XRRA1_HUMAN	H	349;335	ENSP00000339918:P349H	ENSP00000339918:P349H	P	-	2	0	XRRA1	74247951	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.489000	0.60309	2.828000	0.97474	0.655000	0.94253	CCC		0.478	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969	
XRRA1	143570	broad.mit.edu	37	11	74618254	74618254	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74618254G>A	ENST00000340360.6	-	9	1028	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	XRRA1_ENST00000527087.1_Silent_p.L233L|XRRA1_ENST00000321448.8_5'UTR|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000533598.1_5'Flank	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.L233L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TCCAGCATCAGTGTCTCCAGC	0.542																																					p.L233L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C697T	11						.						129.0	132.0	131.0					11																	74618254		2037	4206	6243	74295902	SO:0001819	synonymous_variant	143570	exon9			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.697C>T	11.37:g.74618254G>A			74295902	NM_182969		Silent	SNP	ENST00000340360.6	37	CCDS44680.1																																																																																				0.542	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969	
SLCO2B1	11309	broad.mit.edu	37	11	74880776	74880776	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:74880776C>T	ENST00000289575.5	+	6	1143	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R106C|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R228C|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R134C|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	250					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R250C(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCTCATGCTGCGCCTTTATGT	0.542																																					p.R106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C316T	11						.						128.0	120.0	123.0					11																	74880776		2200	4293	6493	74558424	SO:0001583	missense	11309	exon3			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.748C>T	11.37:g.74880776C>T	ENSP00000289575:p.Arg250Cys		74558424	NM_001145212	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650407	0.67472	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.83	2.77	0.32553	Major facilitator superfamily domain, general substrate transporter (1);	0.060626	0.64402	D	0.000004	T	0.64000	0.2559	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.69569	-0.5110	10	0.72032	D	0.01	.	11.6849	0.51481	0.326:0.674:0.0:0.0	.	106;250	E9PPU8;O94956	.;SO2B1_HUMAN	C	250;134;106;228;126	ENSP00000289575:R250C;ENSP00000434112:R134C;ENSP00000436324:R106C;ENSP00000388912:R228C;ENSP00000434742:R126C	ENSP00000289575:R250C	R	+	1	0	SLCO2B1	74558424	0.932000	0.31603	0.996000	0.52242	0.937000	0.57800	1.528000	0.35985	1.218000	0.43458	0.650000	0.86243	CGC		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
MAP6	4135	broad.mit.edu	37	11	75298463	75298463	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:75298463C>T	ENST00000304771.3	-	4	2833	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.D366N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	695	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.D695N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACTGCAGAATCGTGAACCTTT	0.488																																					p.D695N	Esophageal Squamous(181;1115 2007 8647 17065 22697)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2083A	11						.						173.0	169.0	171.0					11																	75298463		2200	4293	6493	74976111	SO:0001583	missense	4135	exon4			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2083G>A	11.37:g.75298463C>T	ENSP00000307093:p.Asp695Asn		74976111	NM_033063	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904430	0.33628	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.55760	0.5	5.01	4.09	0.47781	.	1.620210	0.03501	N	0.218036	T	0.37544	0.1007	L	0.39898	1.24	0.29829	N	0.830197	P	0.44006	0.824	B	0.30251	0.113	T	0.34428	-0.9829	10	0.16420	T	0.52	0.5423	6.6494	0.22953	0.0:0.8127:0.0:0.1872	.	695	Q96JE9	MAP6_HUMAN	N	695;366;366	ENSP00000307093:D695N	ENSP00000307093:D695N	D	-	1	0	MAP6	74976111	0.001000	0.12720	0.006000	0.13384	0.231000	0.25187	1.235000	0.32671	2.723000	0.93209	0.655000	0.94253	GAT		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063	
DGAT2	84649	broad.mit.edu	37	11	75511508	75511508	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:75511508G>T	ENST00000228027.7	+	8	1382	c.1122G>T	c.(1120-1122)aaG>aaT	p.K374N	DGAT2_ENST00000376262.3_Missense_Mutation_p.K331N|RP11-535A19.2_ENST00000533590.1_RNA|RP11-535A19.2_ENST00000533945.1_RNA|RP11-535A19.1_ENST00000534354.1_RNA	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	374					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.K374N(1)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					ACAAGCACAAGACCAAGTTCG	0.567																																					p.K374N	Melanoma(35;811 1096 8354 24009 39363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1122T	11						.						102.0	82.0	88.0					11																	75511508		2200	4293	6493	75189156	SO:0001583	missense	84649	exon8				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.1122G>T	11.37:g.75511508G>T	ENSP00000228027:p.Lys374Asn		75189156	NM_032564	A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091651	0.76756	.	.	ENSG00000062282	ENST00000228027;ENST00000376262	T;T	0.26223	1.75;1.75	5.55	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62784	-0.6781	10	0.62326	D	0.03	-34.9708	10.4695	0.44629	0.1672:0.0:0.8328:0.0	.	331;374	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	N	374;331	ENSP00000228027:K374N;ENSP00000365438:K331N	ENSP00000228027:K374N	K	+	3	2	DGAT2	75189156	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.575000	0.60908	2.622000	0.88805	0.655000	0.94253	AAG		0.567	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564	
UVRAG	7405	broad.mit.edu	37	11	75590944	75590944	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:75590944G>A	ENST00000356136.3	+	4	533	c.292G>A	c.(292-294)Gat>Aat	p.D98N	UVRAG_ENST00000528420.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	98	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.D98N(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GCGAAGTCTCGATTTTGGAAT	0.398																																					p.D98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	11						.						249.0	239.0	242.0					11																	75590944		2200	4293	6493	75268592	SO:0001583	missense	7405	exon4			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.292G>A	11.37:g.75590944G>A	ENSP00000348455:p.Asp98Asn		75268592	NM_003369	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462927	0.96257	.	.	ENSG00000198382	ENST00000356136	T	0.41758	0.99	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.60772	-0.7197	10	0.51188	T	0.08	-20.5642	18.3143	0.90213	0.0:0.0:1.0:0.0	.	98	Q9P2Y5	UVRAG_HUMAN	N	98	ENSP00000348455:D98N	ENSP00000348455:D98N	D	+	1	0	UVRAG	75268592	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.410000	0.97335	2.678000	0.91216	0.655000	0.94253	GAT		0.398	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
C11orf30	56946	broad.mit.edu	37	11	76162982	76162982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:76162982G>T	ENST00000529032.1	+	2	151	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	C11orf30_ENST00000533988.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000343878.3_Nonsense_Mutation_p.E51*|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000524767.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.E51*|C11orf30_ENST00000334736.3_Nonsense_Mutation_p.E51*			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	51	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E51*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCTTCTTGGAGAACTATCAAA	0.338																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	11						.						33.0	33.0	33.0					11																	76162982		2200	4292	6492	75840630	SO:0001587	stop_gained	56946	exon3			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.151G>T	11.37:g.76162982G>T	ENSP00000432327:p.Glu51*		75840630	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Nonsense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210486	0.95069	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.7	5.7	0.88788	.	0.201106	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.507	19.8297	0.96630	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000334130:E51X	E	+	1	0	C11orf30	75840630	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.923000	0.87546	2.697000	0.92050	0.557000	0.71058	GAA		0.338	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
TSKU	25987	broad.mit.edu	37	11	76507335	76507335	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:76507335C>T	ENST00000527881.1	+	2	1701	c.675C>T	c.(673-675)ttC>ttT	p.F225F	TSKU_ENST00000333090.4_Silent_p.F225F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	225					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)		p.F225F(1)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGGTGCCTTCGCGGGGCTGG	0.672																																					p.F225F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675T	11						.						67.0	69.0	69.0					11																	76507335		2200	4289	6489	76184983	SO:0001819	synonymous_variant	25987	exon2			AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.675C>T	11.37:g.76507335C>T			76184983	NM_015516	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	CCDS8246.1																																																																																				0.672	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516	
RSF1	51773	broad.mit.edu	37	11	77378474	77378474	+	Nonsense_Mutation	SNP	G	G	A	rs374487749		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77378474G>A	ENST00000308488.6	-	16	4116	c.3814C>T	c.(3814-3816)Cga>Tga	p.R1272*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R1020*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R1241*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1272					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1272*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCCCGCTTTCGAACTGACCGC	0.483																																					p.R1272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3814T	11						.						74.0	74.0	74.0					11																	77378474		2200	4292	6492	77056122	SO:0001587	stop_gained	51773	exon16			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3814C>T	11.37:g.77378474G>A	ENSP00000311513:p.Arg1272*		77056122	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	48	13.910734	0.99770	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.13	4.22	0.49857	.	0.182394	0.26987	N	0.021485	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4901	13.1533	0.59503	0.0776:0.0:0.9223:0.0	.	.	.	.	X	1272;1020;1241	.	ENSP00000311513:R1272X	R	-	1	2	RSF1	77056122	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.917000	0.56424	1.397000	0.46682	0.462000	0.41574	CGA		0.483	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
RSF1	51773	broad.mit.edu	37	11	77387910	77387910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77387910G>A	ENST00000308488.6	-	13	3570	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.R838*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.R1059*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1090					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.R1090*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCATTTAATCGCCGGCGTTTC	0.473																																					p.R1090X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3268T	11						.						169.0	157.0	161.0					11																	77387910		2200	4292	6492	77065558	SO:0001587	stop_gained	51773	exon13			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3268C>T	11.37:g.77387910G>A	ENSP00000311513:p.Arg1090*		77065558	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	49	16.000178	0.99851	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	.	.	.	4.8	4.8	0.61643	.	0.000000	0.41001	D	0.000964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4603	18.0227	0.89259	0.0:0.0:1.0:0.0	.	.	.	.	X	1090;838;1059;199	.	ENSP00000311513:R1090X	R	-	1	2	RSF1	77065558	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.920000	0.92779	2.670000	0.90874	0.655000	0.94253	CGA		0.473	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
RSF1	51773	broad.mit.edu	37	11	77411962	77411962	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77411962A>G	ENST00000308488.6	-	6	2614	c.2312T>C	c.(2311-2313)gTg>gCg	p.V771A	RSF1_ENST00000480887.1_Missense_Mutation_p.V519A|RSF1_ENST00000360355.2_Missense_Mutation_p.V740A			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	771					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.V771A(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTACGACCCACATTTGTTTT	0.418																																					p.V771A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2312C	11						.						173.0	172.0	172.0					11																	77411962		2200	4292	6492	77089610	SO:0001583	missense	51773	exon6			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2312T>C	11.37:g.77411962A>G	ENSP00000311513:p.Val771Ala		77089610	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.522|6.522	0.464567|0.464567	0.12402|0.12402	.|.	.|.	ENSG00000048649|ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324|ENST00000532556	D;D;D;D|.	0.84800|.	-1.88;-1.89;-1.88;-1.9|.	5.82|5.82	4.69|4.69	0.59074|0.59074	.|.	0.455473|.	0.18596|.	N|.	0.136613|.	T|T	0.43389|0.43389	0.1245|0.1245	L|L	0.27053|0.27053	0.805|0.805	0.35330|0.35330	D|D	0.785491|0.785491	B|.	0.10296|.	0.003|.	B|.	0.09377|.	0.004|.	T|T	0.51317|0.51317	-0.8721|-0.8721	10|5	0.30078|.	T|.	0.28|.	-6.3117|-6.3117	8.6157|8.6157	0.33831|0.33831	0.8826:0.0:0.1174:0.0|0.8826:0.0:0.1174:0.0	.|.	771|.	Q96T23|.	RSF1_HUMAN|.	A|R	771;519;740;572|28	ENSP00000311513:V771A;ENSP00000434509:V519A;ENSP00000353511:V740A;ENSP00000432022:V572A|.	ENSP00000311513:V771A|.	V|W	-|-	2|1	0|0	RSF1|RSF1	77089610|77089610	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.166000|1.166000	0.31834|0.31834	2.234000|2.234000	0.73211|0.73211	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.418	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
INTS4	92105	broad.mit.edu	37	11	77649828	77649828	+	Missense_Mutation	SNP	G	G	A	rs151018256	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77649828G>A	ENST00000534064.1	-	10	1068	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	INTS4_ENST00000525931.1_5'Flank|INTS4_ENST00000529807.1_Missense_Mutation_p.S345L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	345					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S345L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AAACTCCCCCGAACTGTAAAG	0.483													G|||	2	0.000399361	0.0	0.0	5008	,	,		19414	0.0		0.002	False		,,,				2504	0.0				p.S345L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1034T	11						.	G	LEU/SER	1,4399	2.1+/-5.4	0,1,2199	82.0	81.0	81.0		1034	4.2	1.0	11	dbSNP_134	81	8,8576	6.4+/-24.3	0,8,4284	yes	missense	INTS4	NM_033547.3	145	0,9,6483	AA,AG,GG		0.0932,0.0227,0.0693	possibly-damaging	345/964	77649828	9,12975	2200	4292	6492	77327476	SO:0001583	missense	92105	exon10			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1034C>T	11.37:g.77649828G>A	ENSP00000434466:p.Ser345Leu		77327476	NM_033547	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	23.8	4.456243	0.84317	2.27E-4	9.32E-4	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	D;D	0.85556	-2.0;-2.0	4.17	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.74881	2.28	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.91551	0.5257	10	0.51188	T	0.08	-11.4634	16.6644	0.85248	0.0:0.0:1.0:0.0	.	345	Q96HW7	INT4_HUMAN	L	345;196;345	ENSP00000434466:S345L;ENSP00000433644:S345L	ENSP00000346913:S196L	S	-	2	0	INTS4	77327476	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.864000	0.92294	2.140000	0.66376	0.471000	0.43371	TCG		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	
ALG8	79053	broad.mit.edu	37	11	77812074	77812074	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77812074G>T	ENST00000299626.5	-	13	1588	c.1517C>A	c.(1516-1518)gCt>gAt	p.A506D	ALG8_ENST00000532552.2_5'Flank|ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	506					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.A506D(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TTTGAACCAAGCATATGTGAT	0.393																																					p.A506D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1517A	11						.						149.0	140.0	143.0					11																	77812074		2200	4292	6492	77489722	SO:0001583	missense	79053	exon13			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1517C>A	11.37:g.77812074G>T	ENSP00000299626:p.Ala506Asp		77489722	NM_024079	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.750845|3.750845	0.69533|0.69533	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000299626;ENST00000526849|ENST00000530608	D;D|.	0.83992|.	-1.79;-1.79|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.300661|.	0.36972|.	N|.	0.002315|.	T|T	0.75539|0.75539	0.3863|0.3863	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	B;B|.	0.27013|.	0.166;0.154|.	B;B|.	0.36567|.	0.148;0.228|.	T|T	0.74615|0.74615	-0.3606|-0.3606	10|5	0.35671|.	T|.	0.21|.	-7.0463|-7.0463	18.7487|18.7487	0.91804|0.91804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	506;506|.	B3KQL8;Q9BVK2|.	.;ALG8_HUMAN|.	D|I	506;177|208	ENSP00000299626:A506D;ENSP00000434388:A177D|.	ENSP00000299626:A506D|.	A|L	-|-	2|1	0|0	ALG8|ALG8	77489722|77489722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.337000|6.337000	0.72958|0.72958	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GCT|CTT		0.393	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
ALG8	79053	broad.mit.edu	37	11	77815466	77815466	+	Silent	SNP	C	C	A	rs200575151		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77815466C>A	ENST00000299626.5	-	11	1283	c.1212G>T	c.(1210-1212)tcG>tcT	p.S404S	ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000376156.3_Silent_p.S404S	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	404					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.S404S(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCAGAAAAATCGAAGCGTCTC	0.353													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16672	0.0		0.0	False		,,,				2504	0.0				p.S404S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1212T	11						.						65.0	66.0	65.0					11																	77815466		2200	4292	6492	77493114	SO:0001819	synonymous_variant	79053	exon11			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1212G>T	11.37:g.77815466C>A			77493114	NM_001007027	A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	CCDS8258.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.092	-1.165148	0.01673	.	.	ENSG00000159063	ENST00000530608;ENST00000532306	.	.	.	4.94	-9.88	0.00467	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	T	0.55140	-0.8187	4	.	.	.	-5.1213	5.9378	0.19175	0.0678:0.5041:0.2167:0.2114	.	.	.	.	L	106;191	.	.	R	-	2	0	ALG8	77493114	0.001000	0.12720	0.010000	0.14722	0.206000	0.24218	-1.893000	0.01609	-3.612000	0.00132	-2.926000	0.00089	CGA		0.353	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079	
KCTD21	283219	broad.mit.edu	37	11	77884838	77884838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77884838G>A	ENST00000340067.3	-	2	1041	c.763C>T	c.(763-765)Cga>Tga	p.R255*	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	255					protein homooligomerization (GO:0051260)			p.R255*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CGTATTAATCGAATAATCTTA	0.488																																					p.R255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C763T	11						.						107.0	112.0	110.0					11																	77884838		2200	4292	6492	77562486	SO:0001587	stop_gained	283219	exon2			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.763C>T	11.37:g.77884838G>A	ENSP00000339340:p.Arg255*		77562486	NM_001029859	B4DTR0	Nonsense_Mutation	SNP	ENST00000340067.3	37	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	37	6.081195	0.97267	.	.	ENSG00000188997	ENST00000340067	.	.	.	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000203	.	.	.	.	.	.	0.44711	D	0.997706	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7606	0.88463	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000339340:R255X	R	-	1	2	KCTD21	77562486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.230000	0.65321	2.861000	0.98227	0.655000	0.94253	CGA		0.488	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859	
KCTD21	283219	broad.mit.edu	37	11	77885445	77885445	+	Silent	SNP	G	G	A	rs575414089		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77885445G>A	ENST00000340067.3	-	2	434	c.156C>T	c.(154-156)gaC>gaT	p.D52D	KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	52	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.D52D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			ACACTTTGCCGTCACGGTCAA	0.607																																					p.D52D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	11						.						148.0	113.0	124.0					11																	77885445		2200	4292	6492	77563093	SO:0001819	synonymous_variant	283219	exon2			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.156C>T	11.37:g.77885445G>A			77563093	NM_001029859	B4DTR0	Silent	SNP	ENST00000340067.3	37	CCDS31645.1																																																																																				0.607	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859	
USP35	57558	broad.mit.edu	37	11	77911746	77911746	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77911746G>A	ENST00000529308.1	+	6	1350	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.S94S|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	363					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.S119S(1)|p.S363S(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGAGGACTCGAACTCGGGGA	0.647																																					p.S363S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1089A	11						.						46.0	53.0	51.0					11																	77911746		1949	4116	6065	77589394	SO:0001819	synonymous_variant	57558	exon6			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1089G>A	11.37:g.77911746G>A			77589394	NM_020798		Silent	SNP	ENST00000529308.1	37	CCDS41693.1																																																																																				0.647	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
USP35	57558	broad.mit.edu	37	11	77921074	77921074	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77921074A>T	ENST00000529308.1	+	10	2434	c.2173A>T	c.(2173-2175)Aag>Tag	p.K725*	USP35_ENST00000530267.1_Nonsense_Mutation_p.K293*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Nonsense_Mutation_p.K456*|USP35_ENST00000441408.2_Nonsense_Mutation_p.K311*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	725	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.K725*(1)|p.K481*(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggagacagaaaaggaggctga	0.602																																					p.K725X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.A2173T	11						.						70.0	92.0	85.0					11																	77921074		2090	4222	6312	77598722	SO:0001587	stop_gained	57558	exon10			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2173A>T	11.37:g.77921074A>T	ENSP00000431876:p.Lys725*		77598722	NM_020798		Nonsense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	A	39	7.750077	0.98468	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	.	.	.	5.11	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1561	7.5767	0.27939	0.6327:0.2342:0.1331:0.0	.	.	.	.	X	293;725;311;456	.	ENSP00000400825:K311X	K	+	1	0	USP35	77598722	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.508000	0.06344	-1.090000	0.03069	0.496000	0.49642	AAG		0.602	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
NARS2	79731	broad.mit.edu	37	11	78277216	78277216	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78277216G>A	ENST00000281038.5	-	4	850	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	159					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.R159C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GCTTCACTGCGAATCCTCAAT	0.383																																					p.R159C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475T	11						.						115.0	115.0	115.0					11																	78277216		2200	4291	6491	77954864	SO:0001583	missense	79731	exon4			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.475C>T	11.37:g.78277216G>A	ENSP00000281038:p.Arg159Cys		77954864	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609169	0.87258	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	D;D	0.85861	-2.04;-2.04	5.13	5.13	0.70059	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94850	0.8336	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96217	0.9157	10	0.87932	D	0	-9.3895	17.7175	0.88342	0.0:0.0:1.0:0.0	.	159	Q96I59	SYNM_HUMAN	C	159	ENSP00000281038:R159C;ENSP00000432240:R159C	ENSP00000281038:R159C	R	-	1	0	NARS2	77954864	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.731000	0.74785	2.547000	0.85894	0.655000	0.94253	CGC		0.383	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
NARS2	79731	broad.mit.edu	37	11	78285492	78285492	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78285492A>G	ENST00000281038.5	-	1	417	c.42T>C	c.(40-42)tgT>tgC	p.C14C	NARS2_ENST00000528850.1_5'Flank	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	14					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.C14C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGGCGGAGGAACAGAAGCGCA	0.692																																					p.C14C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T42C	11						.						43.0	44.0	43.0					11																	78285492		2200	4291	6491	77963140	SO:0001819	synonymous_variant	79731	exon1			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.42T>C	11.37:g.78285492A>G			77963140	NM_024678	G3V178	Silent	SNP	ENST00000281038.5	37	CCDS8261.1																																																																																				0.692	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
TENM4	26011	broad.mit.edu	37	11	78380283	78380283	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78380283G>T	ENST00000278550.7	-	32	7569	c.7107C>A	c.(7105-7107)gtC>gtA	p.V2369V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2369					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.V2369V(2)									TTCCACTAAAGACAGCAAGAG	0.478																																					p.V2369V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7107A	11						.						90.0	91.0	91.0					11																	78380283		1988	4162	6150	78057931	SO:0001819	synonymous_variant	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7107C>A	11.37:g.78380283G>T			78057931	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TENM4	26011	broad.mit.edu	37	11	78381069	78381069	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78381069G>T	ENST00000278550.7	-	32	6783	c.6321C>A	c.(6319-6321)ctC>ctA	p.L2107L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2107					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.L2107L(2)									CATAGCGATAGAGATCAATGG	0.488																																					p.L2107L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6321A	11						.						60.0	62.0	61.0					11																	78381069		2074	4207	6281	78058717	SO:0001819	synonymous_variant	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6321C>A	11.37:g.78381069G>T			78058717	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.488	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TENM4	26011	broad.mit.edu	37	11	78381549	78381549	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78381549G>A	ENST00000278550.7	-	32	6303	c.5841C>T	c.(5839-5841)ttC>ttT	p.F1947F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1947					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.F1947F(4)									CATTCTTGTCGAACTCAAAGA	0.532																																					p.F1947F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C5841T	11						.						71.0	74.0	73.0					11																	78381549		2006	4165	6171	78059197	SO:0001819	synonymous_variant	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5841C>T	11.37:g.78381549G>A			78059197	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TENM4	26011	broad.mit.edu	37	11	78433868	78433868	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:78433868G>T	ENST00000278550.7	-	24	4107	c.3645C>A	c.(3643-3645)atC>atA	p.I1215I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1215					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.I1215I(2)									TGGGGCAGGAGATGCTTCTCC	0.602																																					p.I1215I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3645A	11						.						59.0	65.0	63.0					11																	78433868		2035	4184	6219	78111516	SO:0001819	synonymous_variant	26011	exon24			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.3645C>A	11.37:g.78433868G>T			78111516	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
DDIAS	220042	broad.mit.edu	37	11	82643396	82643396	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:82643396T>G	ENST00000533655.1	+	6	1228	c.1016T>G	c.(1015-1017)tTa>tGa	p.L339*	C11orf82_ENST00000329143.3_Nonsense_Mutation_p.L38*|C11orf82_ENST00000430323.2_Nonsense_Mutation_p.L339*|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		339					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L339*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GACTCTAATTTATTCTCTTTG	0.408																																					p.L339X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1016G	11						.						80.0	87.0	84.0					11																	82643396		2203	4300	6503	82321044	SO:0001587	stop_gained	220042	exon6																														ENST00000533655.1:c.1016T>G	11.37:g.82643396T>G	ENSP00000435421:p.Leu339*		82321044	NM_145018	Q96LK6|Q9H856	Nonsense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278698	0.95459	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	.	.	.	5.52	5.52	0.82312	.	0.978397	0.08372	N	0.955970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0399	0.53446	0.0:0.0:0.0:1.0	.	.	.	.	X	339;339;38	.	.	L	+	2	0	C11orf82	82321044	0.097000	0.21791	0.030000	0.17652	0.223000	0.24884	1.897000	0.39799	2.109000	0.64355	0.416000	0.27883	TTA		0.408	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
RAB30	27314	broad.mit.edu	37	11	82708346	82708346	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:82708346C>A	ENST00000533486.1	-	3	297	c.13G>T	c.(13-15)Gat>Tat	p.D5Y	RAB30_ENST00000260056.2_Missense_Mutation_p.D5Y|RAB30_ENST00000525117.1_Missense_Mutation_p.D5Y|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Missense_Mutation_p.D5Y|RAB30_ENST00000532548.1_Missense_Mutation_p.D5Y|RAB30_ENST00000534141.1_Missense_Mutation_p.D5Y	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	5					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D5Y(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AAATCATAATCTTCCATACTC	0.483																																					p.D5Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13T	11						.						83.0	76.0	78.0					11																	82708346		2203	4300	6503	82385994	SO:0001583	missense	27314	exon3			U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.13G>T	11.37:g.82708346C>A	ENSP00000435189:p.Asp5Tyr		82385994	NM_014488	Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961546	0.92791	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000526205;ENST00000534103;ENST00000530224;ENST00000533276;ENST00000528379	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	M	0.69463	2.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.966;0.987;0.994	D	0.87631	0.2516	9	.	.	.	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	5;5;5	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	Y	5	ENSP00000435189:D5Y;ENSP00000434974:D5Y;ENSP00000260056:D5Y;ENSP00000435089:D5Y;ENSP00000434953:D5Y;ENSP00000432193:D5Y;ENSP00000433243:D5Y;ENSP00000437235:D5Y;ENSP00000432336:D5Y;ENSP00000435542:D5Y;ENSP00000436282:D5Y;ENSP00000434528:D5Y;ENSP00000434106:D5Y	.	D	-	1	0	RAB30	82385994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	2.755000	0.94549	0.655000	0.94253	GAT		0.483	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488	
DLG2	1740	broad.mit.edu	37	11	83641486	83641486	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:83641486C>T	ENST00000532653.1	-	10	1368	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	DLG2_ENST00000280241.8_Missense_Mutation_p.D395N|DLG2_ENST00000531015.1_Missense_Mutation_p.D323N|DLG2_ENST00000524982.1_Missense_Mutation_p.D356N|DLG2_ENST00000330014.6_Missense_Mutation_p.D295N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.D461N|DLG2_ENST00000543673.1_Missense_Mutation_p.D461N|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.D395N|DLG2_ENST00000537455.1_Missense_Mutation_p.D110N|DLG2_ENST00000398309.2_Missense_Mutation_p.D356N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.D356N(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCAGGCTTATCACATAGTTTG	0.488																																					p.D356N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1066A	11						.						162.0	166.0	165.0					11																	83641486		1996	4190	6186	83319134	SO:0001583	missense	1740	exon10			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1066G>A	11.37:g.83641486C>T	ENSP00000435849:p.Asp356Asn		83319134	NM_001364	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	C	18.32	3.598710	0.66332	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.20069	2.64;2.66;2.66;2.61;2.56;2.42;2.65;2.6;2.47;2.1	5.78	5.78	0.91487	.	0.082208	0.46145	D	0.000320	T	0.16085	0.0387	N	0.14661	0.345	0.80722	D	1	P;B;B;P;B;P;B	0.40731	0.598;0.319;0.319;0.598;0.204;0.728;0.319	B;B;B;B;B;B;B	0.39339	0.19;0.111;0.111;0.19;0.046;0.297;0.111	T	0.05370	-1.0889	9	.	.	.	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	323;356;356;295;395;461;356	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	N	356;461;461;395;295;110;356;356;461;323;395	ENSP00000381355:D356N;ENSP00000365272:D461N;ENSP00000441994:D461N;ENSP00000280241:D395N;ENSP00000381353:D295N;ENSP00000443248:D110N;ENSP00000432894:D356N;ENSP00000435849:D356N;ENSP00000433848:D323N;ENSP00000381346:D395N	.	D	-	1	0	DLG2	83319134	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.344000	0.79328	2.730000	0.93505	0.655000	0.94253	GAT		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
SYTL2	54843	broad.mit.edu	37	11	85409098	85409098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85409098C>A	ENST00000528231.1	-	16	2654	c.2377G>T	c.(2377-2379)Gaa>Taa	p.E793*	SYTL2_ENST00000524452.1_Nonsense_Mutation_p.E769*|SYTL2_ENST00000316356.4_Nonsense_Mutation_p.E794*|SYTL2_ENST00000389960.4_Nonsense_Mutation_p.E769*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.E761*|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.E1115*|SYTL2_ENST00000389958.3_Nonsense_Mutation_p.E224*|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.E1131*|SYTL2_ENST00000525702.1_Nonsense_Mutation_p.E235*|SYTL2_ENST00000533892.1_Nonsense_Mutation_p.E195*|SYTL2_ENST00000359152.5_Nonsense_Mutation_p.E1639*|SYTL2_ENST00000529581.1_Nonsense_Mutation_p.E235*	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	793	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E1131*(1)|p.E794*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATGTGCACTTCTCCAGTTGTA	0.398																																					p.E235X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G703T	11						.						90.0	84.0	86.0					11																	85409098		2203	4299	6502	85086746	SO:0001587	stop_gained	54843	exon10			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2377G>T	11.37:g.85409098C>A	ENSP00000431701:p.Glu793*		85086746	NM_206929	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	39	7.537714	0.98345	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.3912	19.8241	0.96610	0.0:1.0:0.0:0.0	.	.	.	.	X	769;1639;1131;794;235;1115;235;224;510;793;195;761;769	.	.	E	-	1	0	SYTL2	85086746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.350000	0.79385	2.758000	0.94735	0.655000	0.94253	GAA		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
SYTL2	54843	broad.mit.edu	37	11	85437122	85437122	+	Intron	SNP	C	C	A	rs574962856		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85437122C>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.K126N|SYTL2_ENST00000354566.3_Missense_Mutation_p.K126N|SYTL2_ENST00000359152.5_Missense_Mutation_p.K650N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K126N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCCGTATTCTTTTCCACAT	0.358																																					p.K126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G378T	11						.						161.0	158.0	159.0					11																	85437122		2203	4299	6502	85114770	SO:0001627	intron_variant	54843	exon1			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1816G>T	11.37:g.85437122C>A			85114770	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	9.494	1.101434	0.20632	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.34072	1.4;1.38;1.39	5.32	1.79	0.24919	.	0.374949	0.23007	N	0.053005	T	0.21841	0.0526	L	0.32530	0.975	0.09310	N	1	B;B;B	0.24368	0.102;0.102;0.047	B;B;B	0.25759	0.063;0.063;0.032	T	0.15780	-1.0425	9	.	.	.	-3.8828	4.0897	0.09963	0.0:0.3835:0.1902:0.4263	.	126;126;126	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	N	650;126;126	ENSP00000352065:K650N;ENSP00000346576:K126N;ENSP00000432694:K126N	.	K	-	3	2	SYTL2	85114770	0.837000	0.29446	0.684000	0.30055	0.100000	0.18952	-0.039000	0.12124	0.166000	0.19597	0.655000	0.94253	AAG		0.358	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
SYTL2	54843	broad.mit.edu	37	11	85459427	85459427	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85459427C>A	ENST00000528231.1	-	2	418	c.141G>T	c.(139-141)aaG>aaT	p.K47N	SYTL2_ENST00000524452.1_Missense_Mutation_p.K47N|SYTL2_ENST00000316356.4_Missense_Mutation_p.K47N|SYTL2_ENST00000389960.4_Missense_Mutation_p.K47N|SYTL2_ENST00000527523.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	47	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K47N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTCATATTCTTCAGCTGCT	0.393																																					p.K47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	11						.						148.0	137.0	141.0					11																	85459427		2203	4299	6502	85137075	SO:0001583	missense	54843	exon3			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.141G>T	11.37:g.85459427C>A	ENSP00000431701:p.Lys47Asn		85137075	NM_032943	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260422	0.80246	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000524452	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.05	4.12	0.48240	Rab-binding domain (1);	.	.	.	.	D	0.84392	0.5462	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.94;0.973	D	0.83633	0.0146	8	.	.	.	.	10.3881	0.44152	0.0:0.9067:0.0:0.0933	.	47;47;47	Q9HCH5-6;Q9HCH5;Q9HCH5-13	.;SYTL2_HUMAN;.	N	47	ENSP00000374610:K47N;ENSP00000318803:K47N;ENSP00000431701:K47N;ENSP00000435238:K47N	.	K	-	3	2	SYTL2	85137075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.407000	0.44565	2.513000	0.84729	0.655000	0.94253	AAG		0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
SYTL2	54843	broad.mit.edu	37	11	85468684	85468684	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85468684C>T	ENST00000528231.1	-	1	362	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SYTL2_ENST00000524452.1_Missense_Mutation_p.E29K|SYTL2_ENST00000316356.4_Missense_Mutation_p.E29K|SYTL2_ENST00000389960.4_Missense_Mutation_p.E29K|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	29	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E29K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCTCTTCTTCGGCCCTCTTC	0.478																																					p.E29K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	11						.						235.0	239.0	238.0					11																	85468684		2203	4299	6502	85146332	SO:0001583	missense	54843	exon2			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.85G>A	11.37:g.85468684C>T	ENSP00000431701:p.Glu29Lys		85146332	NM_032943	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479921	0.96307	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000524452	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.6	5.6	0.85130	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	D	0.90604	0.7054	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.79784	0.99;0.878;0.993	D	0.89426	0.3713	8	.	.	.	.	18.3897	0.90478	0.0:1.0:0.0:0.0	.	29;29;29	Q9HCH5-6;Q9HCH5;Q9HCH5-13	.;SYTL2_HUMAN;.	K	29	ENSP00000374610:E29K;ENSP00000318803:E29K;ENSP00000431701:E29K;ENSP00000435238:E29K	.	E	-	1	0	SYTL2	85146332	1.000000	0.71417	0.957000	0.39632	0.985000	0.73830	6.404000	0.73268	2.626000	0.88956	0.650000	0.86243	GAA		0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
CCDC83	220047	broad.mit.edu	37	11	85606366	85606366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85606366G>T	ENST00000342404.3	+	6	758	c.542G>T	c.(541-543)aGa>aTa	p.R181I	CCDC83_ENST00000376067.1_Missense_Mutation_p.R82I|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000280245.4_Missense_Mutation_p.R181I			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	181								p.R181I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GAAGATACTAGAAAGAAAATA	0.274																																					p.R181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542T	11						.						41.0	46.0	44.0					11																	85606366		2202	4292	6494	85284014	SO:0001583	missense	220047	exon6			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.542G>T	11.37:g.85606366G>T	ENSP00000344512:p.Arg181Ile		85284014	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.648|6.648	0.488028|0.488028	0.12641|0.12641	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000526729|ENST00000280245;ENST00000376067;ENST00000342404	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	4.65|4.65	0.199|0.199	0.15175|0.15175	.|.	.|0.235291	.|0.35936	.|N	.|0.002886	.|T	.|0.44286	.|0.1286	L|L	0.55481|0.55481	1.735|1.735	0.26230|0.26230	N|N	0.979027|0.979027	.|D;B;P	.|0.59767	.|0.986;0.225;0.454	.|P;B;B	.|0.58454	.|0.839;0.048;0.082	.|T	.|0.21930	.|-1.0231	.|9	.|.	.|.	.|.	-11.4535|-11.4535	3.2357|3.2357	0.06763|0.06763	0.3705:0.0:0.4491:0.1804|0.3705:0.0:0.4491:0.1804	.|.	.|82;181;181	.|Q8IWF9-3;Q8IWF9;Q8IWF9-2	.|.;CCD83_HUMAN;.	X|I	87|181;82;181	.|ENSP00000280245:R181I;ENSP00000365235:R82I;ENSP00000344512:R181I	.|.	E|R	+|+	1|2	0|0	CCDC83|CCDC83	85284014|85284014	0.967000|0.967000	0.33354|0.33354	0.560000|0.560000	0.28344|0.28344	0.148000|0.148000	0.21650|0.21650	0.487000|0.487000	0.22356|0.22356	0.463000|0.463000	0.27118|0.27118	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.274	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
CCDC83	220047	broad.mit.edu	37	11	85622351	85622351	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85622351G>T	ENST00000342404.3	+	8	916	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	CCDC83_ENST00000376067.1_Nonsense_Mutation_p.E135*|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000280245.4_Nonsense_Mutation_p.E234*			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	234								p.E234*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAGTTGAAGAATTAAAAAA	0.333																																					p.E234X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G700T	11						.						100.0	110.0	107.0					11																	85622351		2203	4299	6502	85299999	SO:0001587	stop_gained	220047	exon8			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.700G>T	11.37:g.85622351G>T	ENSP00000344512:p.Glu234*		85299999	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Nonsense_Mutation	SNP	ENST00000342404.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.456155|6.456155	0.97581|0.97581	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	.|.	.|.	.|.	5.08|5.08	2.2|2.2	0.27929|0.27929	.|.	0.453670|.	0.22269|.	N|.	0.062282|.	.|T	.|0.42177	.|0.1191	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48603	.|-0.9021	.|3	.|.	.|.	.|.	-0.4613|-0.4613	7.0839|7.0839	0.25247|0.25247	0.2838:0.0:0.7162:0.0|0.2838:0.0:0.7162:0.0	.|.	.|.	.|.	.|.	X|N	234;135;234|139	.|.	.|.	E|K	+|+	1|3	0|2	CCDC83|CCDC83	85299999|85299999	0.129000|0.129000	0.22400|0.22400	0.536000|0.536000	0.28039|0.28039	0.283000|0.283000	0.27025|0.27025	-0.609000|-0.609000	0.05635|0.05635	0.192000|0.192000	0.20272|0.20272	0.313000|0.313000	0.20887|0.20887	GAA|AAG		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
CCDC83	220047	broad.mit.edu	37	11	85627112	85627112	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:85627112G>A	ENST00000342404.3	+	10	1132	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CCDC83_ENST00000376067.1_Missense_Mutation_p.D206N|CCDC83_ENST00000280245.4_Missense_Mutation_p.D337N|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	306								p.D337N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAAGTAGAGACTTGATGTC	0.323																																					p.D337N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	11						.						116.0	117.0	116.0					11																	85627112		2203	4299	6502	85304760	SO:0001583	missense	220047	exon11			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.916G>A	11.37:g.85627112G>A	ENSP00000344512:p.Asp306Asn		85304760	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37		.	.	.	.	.	.	.	.	.	.	G	8.358	0.832543	0.16820	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.42131	0.98;0.98;0.98	4.87	-0.91	0.10511	.	0.840949	0.10708	N	0.643167	T	0.29620	0.0739	L	0.46157	1.445	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.10450	0.004;0.005;0.005	T	0.25152	-1.0140	9	.	.	.	-1.4926	4.3272	0.11046	0.2958:0.3162:0.388:0.0	.	206;306;337	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	N	337;206;306	ENSP00000280245:D337N;ENSP00000365235:D206N;ENSP00000344512:D306N	.	D	+	1	0	CCDC83	85304760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.235000	0.09016	0.027000	0.15297	-0.216000	0.12614	GAC		0.323	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
CCDC81	60494	broad.mit.edu	37	11	86111738	86111738	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:86111738G>T	ENST00000445632.2	+	7	1048	c.776G>T	c.(775-777)aGa>aTa	p.R259I	CCDC81_ENST00000278487.3_Missense_Mutation_p.R42I|CCDC81_ENST00000528728.1_Missense_Mutation_p.R42I|CCDC81_ENST00000354755.1_Missense_Mutation_p.R169I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	259								p.R169I(2)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCACCCAAAAGACTTCGAGAT	0.398																																					p.R169I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G506T	11						.						127.0	130.0	129.0					11																	86111738		2202	4299	6501	85789386	SO:0001583	missense	60494	exon6			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.776G>T	11.37:g.86111738G>T	ENSP00000415528:p.Arg259Ile		85789386	NM_021827	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	ENST00000445632.2	37	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331174	0.24167	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.63	-5.64	0.02466	.	0.626680	0.15431	N	0.262736	T	0.19805	0.0476	L	0.43152	1.355	0.20926	N	0.99983	P;P;B	0.42961	0.617;0.795;0.002	B;B;B	0.39805	0.105;0.31;0.007	T	0.08289	-1.0729	9	.	.	.	0.0039	1.9419	0.03348	0.3826:0.0904:0.333:0.194	.	42;259;169	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	169;42;259;42	ENSP00000346800:R169I;ENSP00000278487:R42I;ENSP00000415528:R259I;ENSP00000437165:R42I	.	R	+	2	0	CCDC81	85789386	0.000000	0.05858	0.003000	0.11579	0.139000	0.21198	-1.163000	0.03138	-0.957000	0.03627	0.655000	0.94253	AGA		0.398	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827	
FZD4	8322	broad.mit.edu	37	11	86663064	86663064	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:86663064G>T	ENST00000531380.1	-	2	1039	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	245					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S245Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACCTAGAAGAATCGATCAG	0.478																																					p.S245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C734A	11						.						62.0	60.0	61.0					11																	86663064		2201	4299	6500	86340712	SO:0001583	missense	8322	exon2			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.734C>A	11.37:g.86663064G>T	ENSP00000434034:p.Ser245Tyr		86340712	NM_012193	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270816	0.59540	.	.	ENSG00000174804	ENST00000531380	T	0.48836	0.8	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.54323	1.7	0.80722	D	1	P	0.52463	0.953	P	0.59761	0.863	T	0.57590	-0.7785	9	.	.	.	.	19.8211	0.96595	0.0:0.0:1.0:0.0	.	245	Q9ULV1	FZD4_HUMAN	Y	245	ENSP00000434034:S245Y	.	S	-	2	0	FZD4	86340712	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	8.062000	0.89475	2.687000	0.91594	0.655000	0.94253	TCT		0.478	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193	
TMEM135	65084	broad.mit.edu	37	11	86782644	86782644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:86782644G>T	ENST00000305494.5	+	3	388	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	TMEM135_ENST00000340353.7_Nonsense_Mutation_p.E117*|TMEM135_ENST00000355734.4_Nonsense_Mutation_p.E117*|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	117					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)		p.E117*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATTCTCATTGAAAGAAAAAG	0.348																																					p.E117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G349T	11						.						56.0	59.0	58.0					11																	86782644		2199	4299	6498	86460292	SO:0001587	stop_gained	65084	exon3			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.349G>T	11.37:g.86782644G>T	ENSP00000306344:p.Glu117*		86460292	NM_001168724	Q6AW91|Q8ND01|Q9H6M3	Nonsense_Mutation	SNP	ENST00000305494.5	37	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.746110	0.98465	.	.	ENSG00000166575	ENST00000340353;ENST00000525018;ENST00000355734;ENST00000305494	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.5349	18.035	0.89298	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	.	E	+	1	0	TMEM135	86460292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.846000	0.92159	2.509000	0.84616	0.655000	0.94253	GAA		0.348	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
CTSC	1075	broad.mit.edu	37	11	88045581	88045581	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:88045581C>T	ENST00000227266.5	-	3	574	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	154					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.A154T(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTAAGGTGTGCTATGTTGACA	0.408																																					p.A154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	11						.						159.0	155.0	157.0					11																	88045581		2201	4299	6500	87685229	SO:0001583	missense	1075	exon3			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.460G>A	11.37:g.88045581C>T	ENSP00000227266:p.Ala154Thr		87685229	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667917	0.14710	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	T	0.69926	-0.44	5.75	1.7	0.24286	.	0.966433	0.08595	N	0.922410	T	0.60366	0.2263	M	0.68317	2.08	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48352	-0.9043	9	.	.	.	.	4.9518	0.14019	0.0:0.4666:0.2451:0.2883	.	154	P53634	CATC_HUMAN	T	137;154	ENSP00000227266:A154T	.	A	-	1	0	CTSC	87685229	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.138000	0.16016	0.372000	0.24591	0.655000	0.94253	GCA		0.408	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
GRM5	2915	broad.mit.edu	37	11	88337993	88337993	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:88337993C>A	ENST00000305447.4	-	4	1436	c.1287G>T	c.(1285-1287)atG>atT	p.M429I	GRM5_ENST00000305432.5_Missense_Mutation_p.M429I|GRM5_ENST00000455756.2_Missense_Mutation_p.M429I|GRM5_ENST00000418177.2_Missense_Mutation_p.M429I|GRM5_ENST00000393297.1_Missense_Mutation_p.M429I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	429					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.M429I(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAATTGGCTTCATGGCATCAC	0.473																																					p.M429I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1287T	11						.						82.0	75.0	77.0					11																	88337993		2201	4299	6500	87977641	SO:0001583	missense	2915	exon5			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1287G>T	11.37:g.88337993C>A	ENSP00000306138:p.Met429Ile		87977641	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135751	0.94517	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	M	0.71581	2.175	0.80722	D	1	D;D	0.57257	0.979;0.965	D;D	0.74674	0.98;0.984	D	0.89486	0.3753	9	.	.	.	.	19.984	0.97341	0.0:1.0:0.0:0.0	.	429;429	P41594-2;P41594	.;GRM5_HUMAN	I	429	ENSP00000402912:M429I;ENSP00000405690:M429I;ENSP00000305905:M429I;ENSP00000306138:M429I;ENSP00000376975:M429I	.	M	-	3	0	GRM5	87977641	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.734000	0.93682	0.446000	0.29264	ATG		0.473	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
NOX4	50507	broad.mit.edu	37	11	89135607	89135607	+	Nonsense_Mutation	SNP	C	C	A	rs201436866		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:89135607C>A	ENST00000263317.4	-	9	971	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	NOX4_ENST00000535633.1_Nonsense_Mutation_p.E221*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.E221*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.E245*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.E221*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.E221*|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Nonsense_Mutation_p.E266*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.E221*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Nonsense_Mutation_p.E79*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.E220*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.E221*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	245	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.E245*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGAAAATGTTCTGAGAAATAC	0.428																																					p.E245X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G733T	11						.						94.0	104.0	101.0					11																	89135607		2201	4298	6499	88775255	SO:0001587	stop_gained	50507	exon9			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.733G>T	11.37:g.89135607C>A	ENSP00000263317:p.Glu245*		88775255	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	37	5.985175	0.97173	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	.	.	.	4.76	1.53	0.23141	.	0.997777	0.08115	N	0.995556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.4074	6.9078	0.24319	0.0:0.5756:0.2708:0.1535	.	.	.	.	X	221;221;221;245;245;221;221;221;79;220;266	.	.	E	-	1	0	NOX4	88775255	0.388000	0.25197	0.934000	0.37439	0.914000	0.54420	1.424000	0.34848	0.512000	0.28257	0.467000	0.42956	GAA		0.428	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
NOX4	50507	broad.mit.edu	37	11	89173876	89173876	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:89173876C>A	ENST00000263317.4	-	6	693	c.455G>T	c.(454-456)aGa>aTa	p.R152I	NOX4_ENST00000535633.1_Missense_Mutation_p.R128I|NOX4_ENST00000527956.1_Missense_Mutation_p.R128I|NOX4_ENST00000534731.1_Missense_Mutation_p.R152I|NOX4_ENST00000532825.1_Missense_Mutation_p.R128I|NOX4_ENST00000542487.1_Missense_Mutation_p.R128I|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.R173I|NOX4_ENST00000343727.5_Missense_Mutation_p.R128I|NOX4_ENST00000525196.1_Missense_Mutation_p.R152I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.R127I|NOX4_ENST00000424319.1_Missense_Mutation_p.R128I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	152	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.R152I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAGAAGTTTTCTAGGATCCTG	0.333																																					p.R152I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455T	11						.						38.0	38.0	38.0					11																	89173876		2201	4298	6499	88813524	SO:0001583	missense	50507	exon6			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.455G>T	11.37:g.89173876C>A	ENSP00000263317:p.Arg152Ile		88813524	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016493	0.54468	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.62;-3.62;-3.62;-3.6;-3.62;-3.55;-3.69;-3.62;-3.62;-3.58;-3.66	5.92	5.92	0.95590	Flavoprotein transmembrane component (1);	0.231983	0.40728	N	0.001029	D	0.95082	0.8407	N	0.17474	0.49	0.80722	D	1	B;P;D;B;P	0.67145	0.198;0.8;0.996;0.009;0.623	B;P;D;B;B	0.75020	0.326;0.474;0.985;0.007;0.268	D	0.94168	0.7420	9	.	.	.	-18.5498	17.2374	0.87002	0.0:1.0:0.0:0.0	.	128;127;152;152;152	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	I	128;128;128;152;152;152;128;128;128;127;173	ENSP00000412446:R128I;ENSP00000440172:R128I;ENSP00000344747:R128I;ENSP00000436892:R152I;ENSP00000436716:R152I;ENSP00000263317:R152I;ENSP00000434924:R128I;ENSP00000433797:R128I;ENSP00000439373:R128I;ENSP00000436970:R127I;ENSP00000405705:R173I	.	R	-	2	0	NOX4	88813524	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.991000	0.49409	2.809000	0.96659	0.655000	0.94253	AGA		0.333	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
TRIM49	57093	broad.mit.edu	37	11	89537438	89537438	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:89537438T>C	ENST00000329758.1	-	3	528	c.200A>G	c.(199-201)aAc>aGc	p.N67S	TRIM49_ENST00000532501.2_Missense_Mutation_p.N67S	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	67						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N67S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAAATGAATGTTGGTTTTGAG	0.458																																					p.N67S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200G	11						.						91.0	83.0	86.0					11																	89537438		2191	4296	6487	89177086	SO:0001583	missense	57093	exon3			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.200A>G	11.37:g.89537438T>C	ENSP00000327604:p.Asn67Ser		89177086	NM_020358	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	T	9.641	1.138980	0.21123	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	D	0.84146	-1.81	0.821	-0.817	0.10836	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.64103	0.2568	N	0.08118	0	0.09310	N	1	P	0.36577	0.558	B	0.35899	0.213	T	0.56092	-0.8036	8	.	.	.	.	2.7916	0.05390	0.415:0.0:0.0:0.585	.	67	P0CI25	TRI49_HUMAN	S	67	ENSP00000327604:N67S	.	N	-	2	0	TRIM49	89177086	0.010000	0.17322	0.000000	0.03702	0.005000	0.04900	1.001000	0.29783	-0.241000	0.09681	0.163000	0.16589	AAC		0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358	
FAT3	120114	broad.mit.edu	37	11	92085332	92085332	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92085332C>A	ENST00000298047.6	+	1	71	c.54C>A	c.(52-54)ctC>ctA	p.L18L	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000541502.1_Silent_p.L18L|FAT3_ENST00000409404.2_Silent_p.L18L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	18					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L18L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGTTGCCTCATCCTCCTGC	0.507										TCGA Ovarian(4;0.039)																											p.L18L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C54A	11						.						50.0	52.0	51.0					11																	92085332		1960	4140	6100	91724980	SO:0001819	synonymous_variant	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.54C>A	11.37:g.92085332C>A			91724980	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92086402	92086402	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92086402G>T	ENST00000298047.6	+	1	1141	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	FAT3_ENST00000525166.1_Missense_Mutation_p.R225I|FAT3_ENST00000541502.1_Missense_Mutation_p.R375I|FAT3_ENST00000409404.2_Missense_Mutation_p.R375I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	375	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R375I(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCCCATTAGATTTGAAAAA	0.413										TCGA Ovarian(4;0.039)																											p.R375I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1124T	11						.						82.0	78.0	79.0					11																	92086402		1893	4129	6022	91726050	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1124G>T	11.37:g.92086402G>T	ENSP00000298047:p.Arg375Ile		91726050	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	9.667	1.145751	0.21288	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.9	-1.87	0.07737	.	.	.	.	.	T	0.39886	0.1095	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.30880	-0.9963	9	0.52906	T	0.07	.	10.7402	0.46149	0.7067:0.0:0.2933:0.0	.	375	Q8TDW7-3	.	I	375;375;375;225	ENSP00000298047:R375I;ENSP00000387040:R375I;ENSP00000443786:R375I;ENSP00000432586:R225I	ENSP00000298047:R375I	R	+	2	0	FAT3	91726050	0.000000	0.05858	0.081000	0.20488	0.961000	0.63080	-0.227000	0.09126	-0.318000	0.08665	0.655000	0.94253	AGA		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92086977	92086977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92086977C>T	ENST00000298047.6	+	1	1716	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.R417*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.R567*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.R567*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	567	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R567*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGACTATTCGAATAGGAAA	0.438										TCGA Ovarian(4;0.039)																											p.R567X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1699T	11						.						80.0	81.0	81.0					11																	92086977		1870	4110	5980	91726625	SO:0001587	stop_gained	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1699C>T	11.37:g.92086977C>T	ENSP00000298047:p.Arg567*		91726625	NM_001008781	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	38	6.764816	0.97821	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.82	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.4691	0.16660	0.1745:0.6751:0.0:0.1504	.	.	.	.	X	567;567;567;417	.	ENSP00000298047:R567X	R	+	1	2	FAT3	91726625	0.044000	0.20184	0.292000	0.24919	0.993000	0.82548	2.385000	0.44371	1.450000	0.47717	0.591000	0.81541	CGA		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92087131	92087131	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92087131G>A	ENST00000298047.6	+	1	1870	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	FAT3_ENST00000525166.1_Missense_Mutation_p.G468E|FAT3_ENST00000541502.1_Missense_Mutation_p.G618E|FAT3_ENST00000409404.2_Missense_Mutation_p.G618E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G618E(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCATTTCTGGAAATGAACTT	0.363										TCGA Ovarian(4;0.039)																											p.G618E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1853A	11						.						38.0	39.0	38.0					11																	92087131		1842	4085	5927	91726779	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1853G>A	11.37:g.92087131G>A	ENSP00000298047:p.Gly618Glu		91726779	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769402	0.69992	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.74	5.74	0.90152	.	.	.	.	.	T	0.69151	0.3079	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70479	-0.4860	9	0.51188	T	0.08	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	618	Q8TDW7-3	.	E	618;618;618;468	ENSP00000298047:G618E;ENSP00000387040:G618E;ENSP00000443786:G618E;ENSP00000432586:G468E	ENSP00000298047:G618E	G	+	2	0	FAT3	91726779	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.787000	0.99055	2.709000	0.92574	0.591000	0.81541	GGA		0.363	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92498146	92498146	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92498146C>T	ENST00000298047.6	+	5	4103	c.4086C>T	c.(4084-4086)ttC>ttT	p.F1362F	FAT3_ENST00000525166.1_Silent_p.F1212F|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Silent_p.F1362F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1362					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1362F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTGACCTTCGATGAGCCGT	0.498										TCGA Ovarian(4;0.039)																											p.F1362F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4086T	11						.						127.0	122.0	124.0					11																	92498146		1893	4104	5997	92137794	SO:0001819	synonymous_variant	120114	exon5			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4086C>T	11.37:g.92498146C>T			92137794	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92507291	92507291	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92507291C>T	ENST00000298047.6	+	6	4297	c.4280C>T	c.(4279-4281)tCc>tTc	p.S1427F	FAT3_ENST00000525166.1_Missense_Mutation_p.S1277F|FAT3_ENST00000409404.2_Missense_Mutation_p.S1427F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1427	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1427F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCAGAGGTCCATCTATAAT	0.443										TCGA Ovarian(4;0.039)																											p.S1427F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4280T	11						.						93.0	92.0	93.0					11																	92507291		1911	4118	6029	92146939	SO:0001583	missense	120114	exon6			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4280C>T	11.37:g.92507291C>T	ENSP00000298047:p.Ser1427Phe		92146939	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	27.3	4.823041	0.90873	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03181	4.02;4.02;4.02	5.59	5.59	0.84812	.	.	.	.	.	T	0.27663	0.0680	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.18272	-1.0342	9	0.87932	D	0	.	19.5708	0.95413	0.0:1.0:0.0:0.0	.	1427	Q8TDW7-3	.	F	1427;1427;1277	ENSP00000298047:S1427F;ENSP00000387040:S1427F;ENSP00000432586:S1277F	ENSP00000298047:S1427F	S	+	2	0	FAT3	92146939	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	5.614000	0.67695	2.625000	0.88918	0.650000	0.86243	TCC		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92531061	92531061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92531061G>T	ENST00000298047.6	+	9	4899	c.4882G>T	c.(4882-4884)Gaa>Taa	p.E1628*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.E1478*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E1628*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1628	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1628*(2)|p.E1628K(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTTGCAAAGAACCAGACAT	0.458										TCGA Ovarian(4;0.039)																											p.E1628X												.	.	3	Substitution - Nonsense(2)|Substitution - Missense(1)	large_intestine(2)|NS(1)	c.G4882T	11						.						125.0	121.0	122.0					11																	92531061		2002	4164	6166	92170709	SO:0001587	stop_gained	120114	exon9			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4882G>T	11.37:g.92531061G>T	ENSP00000298047:p.Glu1628*		92170709	NM_001008781	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	45	11.541347	0.99574	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	X	1628;1628;1478	.	ENSP00000298047:E1628X	E	+	1	0	FAT3	92170709	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.643000	0.74334	2.755000	0.94549	0.650000	0.86243	GAA		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92532619	92532619	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92532619C>T	ENST00000298047.6	+	9	6457	c.6440C>T	c.(6439-6441)tCt>tTt	p.S2147F	FAT3_ENST00000525166.1_Missense_Mutation_p.S1997F|FAT3_ENST00000409404.2_Missense_Mutation_p.S2147F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2147	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2147F(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATTCAACTCTGACTTGTCC	0.433										TCGA Ovarian(4;0.039)																											p.S2147F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6440T	11						.						42.0	42.0	42.0					11																	92532619		1915	4129	6044	92172267	SO:0001583	missense	120114	exon9			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6440C>T	11.37:g.92532619C>T	ENSP00000298047:p.Ser2147Phe		92172267	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	11.43	1.637380	0.29157	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01838	4.61;4.61;4.61	5.78	5.78	0.91487	.	.	.	.	.	T	0.04497	0.0123	N	0.05554	-0.025	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.67711	-0.5600	9	0.11182	T	0.66	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	2147	Q8TDW7-3	.	F	2147;2147;1997	ENSP00000298047:S2147F;ENSP00000387040:S2147F;ENSP00000432586:S1997F	ENSP00000298047:S2147F	S	+	2	0	FAT3	92172267	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.755000	0.85180	2.749000	0.94314	0.655000	0.94253	TCT		0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92623844	92623844	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92623844C>A	ENST00000298047.6	+	27	13352	c.13335C>A	c.(13333-13335)ttC>ttA	p.F4445L	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.F4295L|FAT3_ENST00000533797.1_Missense_Mutation_p.F748L|FAT3_ENST00000409404.2_Missense_Mutation_p.F4413L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4445	Pro-rich.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F4413L(1)|p.F1020L(1)|p.F4445L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAGAGGAGTTCTTGAGTCAGG	0.592										TCGA Ovarian(4;0.039)																											p.F4413L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C13239A	11						.						42.0	48.0	46.0					11																	92623844		2034	4188	6222	92263492	SO:0001583	missense	120114	exon25			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13335C>A	11.37:g.92623844C>A	ENSP00000298047:p.Phe4445Leu		92263492	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	15.47	2.843796	0.51164	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.66	3.47	0.39725	.	.	.	.	.	T	0.57621	0.2066	M	0.78456	2.415	0.80722	D	1	P;B	0.42871	0.792;0.025	B;B	0.38264	0.269;0.017	T	0.60031	-0.7342	9	0.45353	T	0.12	.	6.4806	0.22061	0.0:0.6369:0.0:0.3631	.	4413;4445	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	L	4445;4413;4295;748	ENSP00000298047:F4445L;ENSP00000387040:F4413L;ENSP00000432586:F4295L;ENSP00000436399:F748L	ENSP00000298047:F4445L	F	+	3	2	FAT3	92263492	0.961000	0.32948	0.965000	0.40720	0.940000	0.58332	2.077000	0.41557	1.400000	0.46741	-0.136000	0.14681	TTC		0.592	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
SLC36A4	120103	broad.mit.edu	37	11	92881895	92881895	+	Silent	SNP	C	C	T	rs142625181	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:92881895C>T	ENST00000326402.4	-	11	1453	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	SLC36A4_ENST00000529184.1_Silent_p.S306S	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	441					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.S441S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATGTTCCTTCGAAAATGTAA	0.368																																					p.S441S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1323A	11						.						60.0	66.0	64.0					11																	92881895		2201	4298	6499	92521543	SO:0001819	synonymous_variant	120103	exon11			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1323G>A	11.37:g.92881895C>T			92521543	NM_152313	Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	CCDS8291.1																																																																																				0.368	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2		
HEPHL1	341208	broad.mit.edu	37	11	93800715	93800715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:93800715G>T	ENST00000315765.9	+	5	870	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	288	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E289*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTGTTGGAGAATCTGTGTC	0.483																																					p.E288X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G862T	11						.						155.0	156.0	155.0					11																	93800715		1933	4118	6051	93440363	SO:0001587	stop_gained	341208	exon5			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.862G>T	11.37:g.93800715G>T	ENSP00000313699:p.Glu288*		93440363	NM_001098672	Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574583	0.96553	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.36	5.36	0.76844	.	0.495174	0.23824	N	0.044202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.2185	0.59873	0.0829:0.0:0.9171:0.0	.	.	.	.	X	288	.	ENSP00000313699:E288X	E	+	1	0	HEPHL1	93440363	0.943000	0.32029	0.993000	0.49108	0.940000	0.58332	2.003000	0.40844	2.670000	0.90874	0.561000	0.74099	GAA		0.483	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
HEPHL1	341208	broad.mit.edu	37	11	93815698	93815698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:93815698G>T	ENST00000315765.9	+	10	1839	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	611	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E615*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATTGACAAAGAAGATAAAGA	0.373																																					p.E611X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1831T	11						.						64.0	58.0	60.0					11																	93815698		1831	4082	5913	93455346	SO:0001587	stop_gained	341208	exon10			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1831G>T	11.37:g.93815698G>T	ENSP00000313699:p.Glu611*		93455346	NM_001098672	Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257642	0.98168	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.59	4.69	0.59074	.	0.382752	0.27088	N	0.020984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.2582	0.49067	0.1578:0.0:0.8422:0.0	.	.	.	.	X	611	.	ENSP00000313699:E611X	E	+	1	0	HEPHL1	93455346	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.153000	0.64888	1.370000	0.46153	0.655000	0.94253	GAA		0.373	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
HEPHL1	341208	broad.mit.edu	37	11	93826685	93826685	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:93826685G>A	ENST00000315765.9	+	13	2321	c.2313G>A	c.(2311-2313)atG>atA	p.M771I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	771	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.M775I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATATATTTATGAACCGCACTG	0.418																																					p.M771I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2313A	11						.						188.0	181.0	183.0					11																	93826685		1850	4100	5950	93466333	SO:0001583	missense	341208	exon13			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2313G>A	11.37:g.93826685G>A	ENSP00000313699:p.Met771Ile		93466333	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951293	0.53186	.	.	ENSG00000181333	ENST00000315765	D	0.98849	-5.18	5.35	5.35	0.76521	Cupredoxin (2);	0.162309	0.56097	D	0.000023	D	0.96534	0.8869	L	0.32530	0.975	0.40108	D	0.976458	B	0.12630	0.006	B	0.12837	0.008	D	0.94349	0.7577	10	0.49607	T	0.09	.	16.1601	0.81698	0.0:0.133:0.867:0.0	.	771	Q6MZM0	HPHL1_HUMAN	I	771	ENSP00000313699:M771I	ENSP00000313699:M771I	M	+	3	0	HEPHL1	93466333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.867000	0.39499	2.510000	0.84645	0.542000	0.68232	ATG		0.418	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
HEPHL1	341208	broad.mit.edu	37	11	93844085	93844085	+	Missense_Mutation	SNP	G	G	A	rs554555752	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:93844085G>A	ENST00000315765.9	+	18	3070	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1021	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R1025Q(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAATCTTACCGAGAAGATGTG	0.403													G|||	2	0.000399361	0.0	0.0	5008	,	,		21305	0.0		0.0	False		,,,				2504	0.002				p.R1021Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3062A	11						.						101.0	93.0	96.0					11																	93844085		1968	4159	6127	93483733	SO:0001583	missense	341208	exon18			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3062G>A	11.37:g.93844085G>A	ENSP00000313699:p.Arg1021Gln		93483733	NM_001098672	Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141572	0.94560	.	.	ENSG00000181333	ENST00000315765	D	0.99735	-6.58	5.97	5.03	0.67393	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	M	0.85859	2.78	0.39215	D	0.963395	D	0.89917	1.0	D	0.79108	0.992	D	0.98294	1.0515	10	0.44086	T	0.13	-7.2308	16.6592	0.85237	0.0:0.0:0.8698:0.1302	.	1021	Q6MZM0	HPHL1_HUMAN	Q	1021	ENSP00000313699:R1021Q	ENSP00000313699:R1021Q	R	+	2	0	HEPHL1	93483733	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.361000	0.79497	2.840000	0.97914	0.655000	0.94253	CGA		0.403	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
MRE11A	4361	broad.mit.edu	37	11	94153324	94153324	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94153324C>A	ENST00000323929.3	-	20	2316	c.2094G>T	c.(2092-2094)atG>atT	p.M698I	MRE11A_ENST00000393241.4_Missense_Mutation_p.M697I|MRE11A_ENST00000323977.3_Missense_Mutation_p.M670I|MRE11A_ENST00000407439.3_Missense_Mutation_p.M701I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	698			M -> V (in dbSNP:rs1805362). {ECO:0000269|Ref.6}.		base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.M670I(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AACTAGTGTTCATAAAAGGAT	0.318								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.M698I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2094T	11						.						93.0	91.0	91.0					11																	94153324		2197	4283	6480	93792972	SO:0001583	missense	4361	exon20	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2094G>T	11.37:g.94153324C>A	ENSP00000325863:p.Met698Ile		93792972	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479138	0.44044	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.74209	-0.8;-0.8;-0.82;-0.8	5.4	5.4	0.78164	.	0.047526	0.85682	D	0.000000	T	0.68412	0.2998	L	0.44542	1.39	0.80722	D	1	B;B;B	0.14805	0.011;0.006;0.011	B;B;B	0.17433	0.018;0.009;0.01	T	0.64266	-0.6448	10	0.46703	T	0.11	-14.1581	15.0286	0.71687	0.0:1.0:0.0:0.0	.	701;670;698	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	I	698;701;670;697	ENSP00000325863:M698I;ENSP00000385614:M701I;ENSP00000326094:M670I;ENSP00000376933:M697I	ENSP00000325863:M698I	M	-	3	0	MRE11A	93792972	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	3.627000	0.54252	2.691000	0.91804	0.557000	0.71058	ATG		0.318	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
MRE11A	4361	broad.mit.edu	37	11	94170365	94170365	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94170365A>G	ENST00000323929.3	-	17	2126	c.1904T>C	c.(1903-1905)gTc>gCc	p.V635A	MRE11A_ENST00000393241.4_Missense_Mutation_p.V634A|MRE11A_ENST00000323977.3_Missense_Mutation_p.V607A|MRE11A_ENST00000407439.3_Missense_Mutation_p.V638A	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	635					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.V607A(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTAGTAGTGACATTTCGGGA	0.284								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.V635A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1904C	11						.						72.0	75.0	74.0					11																	94170365		2201	4295	6496	93810013	SO:0001583	missense	4361	exon17	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1904T>C	11.37:g.94170365A>G	ENSP00000325863:p.Val635Ala		93810013	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	A	4.922	0.171301	0.09391	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.73897	-0.79;-0.79;-0.78;-0.79	5.69	0.0407	0.14210	.	0.451973	0.21788	N	0.069119	T	0.48077	0.1480	N	0.21448	0.665	0.09310	N	0.999998	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.08179	T	0.78	-14.0396	2.3532	0.04289	0.5997:0.1264:0.1504:0.1236	.	638;607;635	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	A	635;638;607;634	ENSP00000325863:V635A;ENSP00000385614:V638A;ENSP00000326094:V607A;ENSP00000376933:V634A	ENSP00000325863:V635A	V	-	2	0	MRE11A	93810013	0.015000	0.18098	0.685000	0.30070	0.267000	0.26476	0.061000	0.14366	0.060000	0.16281	0.533000	0.62120	GTC		0.284	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
MRE11A	4361	broad.mit.edu	37	11	94189500	94189500	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94189500C>T	ENST00000323929.3	-	14	1727	c.1505G>A	c.(1504-1506)cGt>cAt	p.R502H	MRE11A_ENST00000393241.4_Missense_Mutation_p.R502H|MRE11A_ENST00000323977.3_Missense_Mutation_p.R502H|MRE11A_ENST00000407439.3_Missense_Mutation_p.R505H	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	502					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.R502H(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCTGAAACGACGTACCTAGAT	0.313								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.R502H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1505A	11						.						128.0	128.0	128.0					11																	94189500		2200	4298	6498	93829148	SO:0001583	missense	4361	exon14	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1505G>A	11.37:g.94189500C>T	ENSP00000325863:p.Arg502His		93829148	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058253	0.55325	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.78	5.78	0.91487	.	0.149506	0.64402	D	0.000006	T	0.72162	0.3426	M	0.66939	2.045	0.80722	D	1	B;B;B	0.24675	0.109;0.106;0.109	B;B;B	0.18561	0.022;0.017;0.012	T	0.69269	-0.5189	10	0.48119	T	0.1	-14.7923	14.1901	0.65633	0.0:0.9287:0.0:0.0713	.	505;502;502	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	H	502;505;502;502	ENSP00000325863:R502H;ENSP00000385614:R505H;ENSP00000326094:R502H;ENSP00000376933:R502H	ENSP00000325863:R502H	R	-	2	0	MRE11A	93829148	1.000000	0.71417	0.983000	0.44433	0.850000	0.48378	2.868000	0.48436	2.738000	0.93877	0.591000	0.81541	CGT		0.313	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
MRE11A	4361	broad.mit.edu	37	11	94224094	94224094	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94224094C>A	ENST00000323929.3	-	3	280	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.D20Y|MRE11A_ENST00000540013.1_Missense_Mutation_p.D20Y|MRE11A_ENST00000323977.3_Missense_Mutation_p.D20Y|MRE11A_ENST00000407439.3_Missense_Mutation_p.D23Y|ANKRD49_ENST00000544612.1_5'Flank	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	20					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.D20Y(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGATGAATATCTGTTGCAACT	0.284								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.D20Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G58T	11						.						82.0	78.0	79.0					11																	94224094		2201	4298	6499	93863742	SO:0001583	missense	4361	exon3	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.58G>T	11.37:g.94224094C>A	ENSP00000325863:p.Asp20Tyr		93863742	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161204	0.78226	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	D;D;D;D;D;D;D	0.99981	-10.53;-10.53;-10.53;-10.53;-10.53;-10.53;-10.53	4.46	4.46	0.54185	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.99984	0.9995	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.99	D	0.98173	1.0453	10	0.87932	D	0	-19.9319	17.1299	0.86724	0.0:1.0:0.0:0.0	.	23;20;20	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	Y	20;23;20;20;20;20;20	ENSP00000325863:D20Y;ENSP00000385614:D23Y;ENSP00000326094:D20Y;ENSP00000376933:D20Y;ENSP00000440986:D20Y;ENSP00000439511:D20Y;ENSP00000442809:D20Y	ENSP00000325863:D20Y	D	-	1	0	MRE11A	93863742	1.000000	0.71417	0.948000	0.38648	0.986000	0.74619	7.091000	0.76923	2.029000	0.59856	0.462000	0.41574	GAT		0.284	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
ANKRD49	54851	broad.mit.edu	37	11	94231625	94231625	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94231625C>G	ENST00000544612.1	+	3	1144	c.647C>G	c.(646-648)gCc>gGc	p.A216G	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Missense_Mutation_p.A216G	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	216					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.A216G(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTGATATTGCCAGGAGGACA	0.408																																					p.A216G	Melanoma(113;823 1621 4352 9582 22033)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647G	11						.						75.0	77.0	76.0					11																	94231625		2201	4298	6499	93871273	SO:0001583	missense	54851	exon3			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.647C>G	11.37:g.94231625C>G	ENSP00000440396:p.Ala216Gly		93871273	NM_017704	Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772757	0.90108	.	.	ENSG00000168876	ENST00000544612;ENST00000302755	D;D	0.82255	-1.59;-1.59	5.64	5.64	0.86602	Ankyrin repeat-containing domain (2);	0.103596	0.64402	D	0.000003	D	0.93207	0.7836	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.94306	0.7541	10	0.87932	D	0	-6.4911	19.6932	0.96010	0.0:1.0:0.0:0.0	.	216	Q8WVL7	ANR49_HUMAN	G	216	ENSP00000440396:A216G;ENSP00000303518:A216G	ENSP00000303518:A216G	A	+	2	0	ANKRD49	93871273	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.185000	0.77714	2.664000	0.90586	0.655000	0.94253	GCC		0.408	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704	
PIWIL4	143689	broad.mit.edu	37	11	94331025	94331025	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94331025A>G	ENST00000299001.6	+	11	1535	c.1324A>G	c.(1324-1326)Ata>Gta	p.I442V	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	442					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.I442V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGGAAGCCAGATATCTCTGAC	0.338																																					p.I442V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1324G	11						.						99.0	103.0	102.0					11																	94331025		2201	4298	6499	93970673	SO:0001583	missense	143689	exon11			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1324A>G	11.37:g.94331025A>G	ENSP00000299001:p.Ile442Val		93970673	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669015	0.29604	.	.	ENSG00000134627	ENST00000299001	T	0.03717	3.83	4.83	-4.13	0.03904	Ribonuclease H-like (1);	0.639867	0.15408	N	0.263946	T	0.01695	0.0054	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49952	-0.8884	10	0.08381	T	0.77	-4.7809	7.2884	0.26352	0.3253:0.2793:0.3954:0.0	.	442	Q7Z3Z4	PIWL4_HUMAN	V	442	ENSP00000299001:I442V	ENSP00000299001:I442V	I	+	1	0	PIWIL4	93970673	0.138000	0.22547	0.978000	0.43139	0.836000	0.47400	-0.570000	0.05895	-0.609000	0.05724	0.482000	0.46254	ATA		0.338	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
AMOTL1	154810	broad.mit.edu	37	11	94533042	94533042	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94533042G>A	ENST00000433060.2	+	3	827	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	AMOTL1_ENST00000317837.9_Missense_Mutation_p.R229Q|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R179Q	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	229					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.R229Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGAAGTCCCGAACTGAGGGG	0.637																																					p.R229Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	11						.						24.0	27.0	26.0					11																	94533042		2101	4220	6321	94172690	SO:0001583	missense	154810	exon3			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.686G>A	11.37:g.94533042G>A	ENSP00000387739:p.Arg229Gln		94172690	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813199	0.70912	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.44083	0.93;0.93;0.93	5.28	5.28	0.74379	.	0.080141	0.50627	D	0.000112	T	0.50701	0.1631	M	0.74881	2.28	0.48975	D	0.999734	D;P	0.63880	0.993;0.944	P;B	0.49276	0.605;0.34	T	0.54255	-0.8321	9	.	.	.	-28.3066	12.2812	0.54765	0.078:0.0:0.922:0.0	.	179;229	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	Q	179;235;229;229	ENSP00000320968:R179Q;ENSP00000323474:R229Q;ENSP00000387739:R229Q	.	R	+	2	0	AMOTL1	94172690	1.000000	0.71417	0.989000	0.46669	0.947000	0.59692	5.105000	0.64591	2.472000	0.83506	0.555000	0.69702	CGA		0.637	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
AMOTL1	154810	broad.mit.edu	37	11	94602626	94602626	+	Missense_Mutation	SNP	G	G	A	rs77127753	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:94602626G>A	ENST00000433060.2	+	12	2893	c.2752G>A	c.(2752-2754)Gca>Aca	p.A918T	AMOTL1_ENST00000317837.9_Missense_Mutation_p.A505T|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A868T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	918					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.A919T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAAAGGGACCGCAGAGAAACT	0.602													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17533	0.0		0.001	False		,,,				2504	0.0				p.A918T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2752A	11						.	G	THR/ALA	6,3886		0,6,1940	16.0	19.0	18.0		2752	2.4	0.0	11	dbSNP_131	18	0,8262		0,0,4131	yes	missense	AMOTL1	NM_130847.2	58	0,6,6071	AA,AG,GG		0.0,0.1542,0.0494	benign	918/957	94602626	6,12148	1946	4131	6077	94242274	SO:0001583	missense	154810	exon12			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2752G>A	11.37:g.94602626G>A	ENSP00000387739:p.Ala918Thr		94242274	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.82	2.351981	0.41700	0.001542	0.0	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	T;T;T	0.44083	2.26;0.93;2.25	5.26	2.41	0.29592	.	0.552954	0.18358	N	0.143664	T	0.20333	0.0489	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15037	-1.0451	10	0.52906	T	0.07	-0.3659	5.633	0.17522	0.2675:0.0:0.6053:0.1273	.	868;918	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	T	868;505;918	ENSP00000320968:A868T;ENSP00000323474:A505T;ENSP00000387739:A918T	ENSP00000320968:A868T	A	+	1	0	AMOTL1	94242274	0.001000	0.12720	0.001000	0.08648	0.171000	0.22731	0.261000	0.18442	0.252000	0.21531	-0.215000	0.12644	GCA		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
CEP57	9702	broad.mit.edu	37	11	95562478	95562478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:95562478C>T	ENST00000325542.5	+	10	1493	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	CEP57_ENST00000541150.1_Nonsense_Mutation_p.R410*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R392*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R393*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	419	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.R419*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACTAAAGTTCGAAAATACCA	0.368									Mosaic Variegated Aneuploidy Syndrome																												p.R419X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1255T	11						.						175.0	181.0	179.0					11																	95562478		2201	4298	6499	95202126	SO:0001587	stop_gained	9702	exon10	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1255C>T	11.37:g.95562478C>T	ENSP00000317902:p.Arg419*		95202126	NM_014679	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonsense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.150626|6.150626	0.97329|0.97329	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150|ENST00000535224	.|.	.|.	.|.	5.54|5.54	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	.|T	.|0.71117	.|0.3302	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70687	.|-0.4803	.|4	0.87932|.	D|.	0|.	-11.8853|-11.8853	15.6938|15.6938	0.77477|0.77477	0.1381:0.8619:0.0:0.0|0.1381:0.8619:0.0:0.0	.|.	.|.	.|.	.|.	X|L	392;419;393;410|208	.|.	ENSP00000317487:R393X|.	R|S	+|+	1|2	2|0	CEP57|CEP57	95202126|95202126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.836000|2.836000	0.48183|0.48183	1.320000|1.320000	0.45209|0.45209	0.491000|0.491000	0.48974|0.48974	CGA|TCG		0.368	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679	
MTMR2	8898	broad.mit.edu	37	11	95578127	95578127	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:95578127C>T	ENST00000346299.5	-	11	1716	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	MTMR2_ENST00000409459.1_Missense_Mutation_p.R387Q|MTMR2_ENST00000352297.7_Missense_Mutation_p.R387Q|MTMR2_ENST00000393223.3_Missense_Mutation_p.R387Q	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	459	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R387Q(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGTTGAAATCGATGTCCAAA	0.383																																					p.R387Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	11						.						102.0	91.0	95.0					11																	95578127		2201	4298	6499	95217775	SO:0001583	missense	8898	exon13			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1376G>A	11.37:g.95578127C>T	ENSP00000345752:p.Arg459Gln		95217775	NM_201278	A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925006	0.52759	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.66	4.75	0.60458	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.92244	0.7540	L	0.37561	1.115	0.80722	D	1	D;B	0.57257	0.979;0.429	P;B	0.50970	0.655;0.124	D	0.92554	0.6052	10	0.59425	D	0.04	.	14.8028	0.69929	0.0:0.9304:0.0:0.0696	.	459;459	A8K5G2;Q13614	.;MTMR2_HUMAN	Q	459;387;387;387;387	ENSP00000345752:R459Q;ENSP00000376915:R387Q;ENSP00000386882:R387Q;ENSP00000343737:R387Q;ENSP00000396020:R387Q	ENSP00000345752:R459Q	R	-	2	0	MTMR2	95217775	1.000000	0.71417	0.973000	0.42090	0.680000	0.39746	4.922000	0.63404	1.392000	0.46585	0.462000	0.41574	CGA		0.383	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156	
CCDC82	79780	broad.mit.edu	37	11	96117829	96117829	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:96117829C>T	ENST00000278520.5	-	3	511	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	CCDC82_ENST00000542662.1_Missense_Mutation_p.R28Q|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.R28Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	28								p.R28Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCTTTTAGTTCGCCTCCAATC	0.353																																					p.R28Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	11						.						96.0	90.0	92.0					11																	96117829		2201	4295	6496	95757477	SO:0001583	missense	79780	exon4			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.83G>A	11.37:g.96117829C>T	ENSP00000278520:p.Arg28Gln		95757477	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088786	0.94100	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.56611	0.59;0.59;0.59;0.45	5.77	5.77	0.91146	.	0.000000	0.52532	D	0.000065	T	0.73032	0.3535	M	0.70595	2.14	0.39958	D	0.974627	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75371	-0.3341	10	0.87932	D	0	-11.4971	18.1503	0.89672	0.0:1.0:0.0:0.0	.	28;28	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	Q	28	ENSP00000278520:R28Q;ENSP00000444010:R28Q;ENSP00000397156:R28Q;ENSP00000442723:R28Q	ENSP00000278520:R28Q	R	-	2	0	CCDC82	95757477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.436000	0.59948	2.885000	0.99019	0.655000	0.94253	CGA		0.353	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
JRKL	8690	broad.mit.edu	37	11	96125030	96125030	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:96125030C>A	ENST00000332349.4	+	2	1464	c.1217C>A	c.(1216-1218)tCt>tAt	p.S406Y	JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.S406Y	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	406					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S406Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAGATATTTCTGTGGCTACT	0.413																																					p.S406Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217A	11						.						89.0	89.0	89.0					11																	96125030		2201	4298	6499	95764678	SO:0001583	missense	8690	exon1			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1217C>A	11.37:g.96125030C>A	ENSP00000333350:p.Ser406Tyr		95764678	NM_003772	A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789330	0.31685	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.25414	1.8;1.8	4.79	3.88	0.44766	.	0.462473	0.16139	N	0.227830	T	0.23370	0.0565	L	0.40543	1.245	0.27034	N	0.964171	D	0.57899	0.981	P	0.44597	0.454	T	0.07271	-1.0781	10	0.59425	D	0.04	-8.6915	9.4023	0.38440	0.0:0.8991:0.0:0.1009	.	406	Q9Y4A0	JERKL_HUMAN	Y	406	ENSP00000333350:S406Y;ENSP00000389989:S406Y	ENSP00000333350:S406Y	S	+	2	0	JRKL	95764678	0.991000	0.36638	0.585000	0.28666	0.968000	0.65278	3.743000	0.55104	1.137000	0.42214	0.462000	0.41574	TCT		0.413	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772	
CNTN5	53942	broad.mit.edu	37	11	99827692	99827692	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:99827692G>A	ENST00000524871.1	+	8	1118	c.828G>A	c.(826-828)acG>acA	p.T276T	CNTN5_ENST00000527185.1_Silent_p.T276T|CNTN5_ENST00000528682.1_Silent_p.T276T|CNTN5_ENST00000418526.2_Silent_p.T202T|CNTN5_ENST00000279463.3_Silent_p.T276T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	276	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T276T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACACAGTGACGAATGCTAGAG	0.448																																					p.T202T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	11						.						52.0	51.0	51.0					11																	99827692		1953	4138	6091	99332902	SO:0001819	synonymous_variant	53942	exon7			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.828G>A	11.37:g.99827692G>A			99332902	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	CCDS53696.1																																																																																				0.448	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
GLB1L3	112937	broad.mit.edu	37	11	134183914	134183914	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:134183914C>A	ENST00000431683.2	+	17	1659	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	553					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.F553L(1)|p.F214L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAATGAGCTTCTTTGAGAGGT	0.478																																					p.F553L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1659A	11						.						70.0	65.0	67.0					11																	134183914		1895	4115	6010	133689124	SO:0001583	missense	112937	exon17				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1659C>A	11.37:g.134183914C>A	ENSP00000396615:p.Phe553Leu		133689124	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561484	0.45590	.	.	ENSG00000166105	ENST00000431683	D	0.94092	-3.35	4.78	3.87	0.44632	Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92084	0.7491	M	0.77313	2.365	0.40809	D	0.983401	B	0.24368	0.102	B	0.23419	0.046	D	0.90706	0.4624	10	0.56958	D	0.05	.	10.7441	0.46170	0.0:0.9092:0.0:0.0908	.	553	Q8NCI6	GLBL3_HUMAN	L	553	ENSP00000396615:F553L	ENSP00000396615:F553L	F	+	3	2	GLB1L3	133689124	1.000000	0.71417	0.510000	0.27712	0.012000	0.07955	1.548000	0.36201	1.361000	0.45981	0.563000	0.77884	TTC		0.478	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
SLC35F1	222553	broad.mit.edu	37	6	118606379	118606379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:118606379delT	ENST00000360388.4	+	7	1081	c.880delT	c.(880-882)tttfs	p.F294fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	294					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F294fs*11(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGCCTGCATGTTTGGTCTCTA	0.527											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F294fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.880delT	6						.						260.0	252.0	255.0					6																	118606379		2203	4300	6503	118713072	SO:0001589	frameshift_variant	222553	exon7			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.880delT	6.37:g.118606379delT	ENSP00000353557:p.Phe294fs	1489	118713072	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Frame_Shift_Del	DEL	ENST00000360388.4	37	CCDS34524.1																																																																																				0.527	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	
USP45	85015	broad.mit.edu	37	6	99894322	99894322	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99894322G>A	ENST00000327681.6	-	14	1858	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D	USP45_ENST00000539675.1_Intron|USP45_ENST00000500704.2_Silent_p.D442D|USP45_ENST00000392738.2_Silent_p.D122D|USP45_ENST00000369233.2_Silent_p.D394D	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	442	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D442D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TACATTTTCGGTCATGAATTA	0.323																																					p.D442D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326T	6						.						32.0	31.0	31.0					6																	99894322		2203	4300	6503	100001043	SO:0001819	synonymous_variant	85015	exon14			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.1326C>T	6.37:g.99894322G>A			100001043	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	CCDS34501.1																																																																																				0.323	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
MCHR2	84539	broad.mit.edu	37	6	100403892	100403892	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:100403892G>T	ENST00000281806.2	-	2	446	c.132C>A	c.(130-132)atC>atA	p.I44I	MCHR2_ENST00000369212.2_Silent_p.I44I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I44I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTGAACAGATAATCCCAA	0.388																																					p.I44I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132A	6						.						116.0	108.0	110.0					6																	100403892		2203	4300	6503	100510613	SO:0001819	synonymous_variant	84539	exon2			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.132C>A	6.37:g.100403892G>T			100510613	NM_001040179	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	CCDS5044.1																																																																																				0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
MCHR2	84539	broad.mit.edu	37	6	100403984	100403984	+	Missense_Mutation	SNP	C	C	T	rs142259467		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:100403984C>T	ENST00000281806.2	-	2	354	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MCHR2_ENST00000369212.2_Missense_Mutation_p.E14K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTAAAAGTTCGGCAGAGGTG	0.388																																					p.E14K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G40A	6						.						144.0	145.0	145.0					6																	100403984		2203	4300	6503	100510705	SO:0001583	missense	84539	exon2			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.40G>A	6.37:g.100403984C>T	ENSP00000281806:p.Glu14Lys		100510705	NM_001040179	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320291	0.41096	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.69306	-0.39;-0.39;-0.39	4.86	3.98	0.46160	.	0.459428	0.18287	N	0.145830	T	0.25306	0.0615	L	0.27053	0.805	0.23325	N	0.9979	B	0.27853	0.191	B	0.15052	0.012	T	0.10245	-1.0638	10	0.06099	T	0.92	.	11.704	0.51587	0.0:0.9058:0.0:0.0942	.	14	Q969V1	MCHR2_HUMAN	K	14	ENSP00000403490:E14K;ENSP00000281806:E14K;ENSP00000358214:E14K	ENSP00000281806:E14K	E	-	1	0	MCHR2	100510705	0.715000	0.27946	0.967000	0.41034	0.528000	0.34623	1.606000	0.36826	2.386000	0.81285	0.561000	0.74099	GAA		0.388	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
ASCC3	10973	broad.mit.edu	37	6	101214448	101214448	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:101214448C>T	ENST00000369162.2	-	10	2074	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	ASCC3_ENST00000522650.1_Missense_Mutation_p.R577Q	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	577	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.R577Q(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACCTGAGTTCGTAAAATTTC	0.318																																					p.R577Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1730A	6						.						115.0	111.0	112.0					6																	101214448		2203	4300	6503	101321169	SO:0001583	missense	10973	exon10			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1730G>A	6.37:g.101214448C>T	ENSP00000358159:p.Arg577Gln		101321169	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079089	0.55753	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.35048	1.33;1.33	5.3	5.3	0.74995	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.11196	0.0273	N	0.11427	0.14	0.80722	D	1	P;B	0.40250	0.709;0.307	B;B	0.33890	0.172;0.069	T	0.06215	-1.0839	10	0.23302	T	0.38	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	577;577	E7EW23;Q8N3C0	.;HELC1_HUMAN	Q	577	ENSP00000358159:R577Q;ENSP00000430769:R577Q	ENSP00000358159:R577Q	R	-	2	0	ASCC3	101321169	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.445000	0.80570	2.636000	0.89361	0.591000	0.81541	CGA		0.318	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ASCC3	10973	broad.mit.edu	37	6	101248365	101248365	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:101248365A>T	ENST00000369162.2	-	6	1282	c.938T>A	c.(937-939)aTt>aAt	p.I313N	ASCC3_ENST00000522650.1_Missense_Mutation_p.I313N	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	313					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I313N(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTCCTAAAATTTTTTTACA	0.303																																					p.I313N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T938A	6						.						46.0	44.0	45.0					6																	101248365		2200	4298	6498	101355086	SO:0001583	missense	10973	exon6			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.938T>A	6.37:g.101248365A>T	ENSP00000358159:p.Ile313Asn		101355086	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457177	0.26161	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	.	0.467407	0.22701	N	0.056693	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09840	-1.0656	10	0.17369	T	0.5	.	15.6243	0.76840	1.0:0.0:0.0:0.0	.	313;313	E7EW23;Q8N3C0	.;HELC1_HUMAN	N	313	ENSP00000358159:I313N;ENSP00000430769:I313N	ENSP00000358159:I313N	I	-	2	0	ASCC3	101355086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.640000	0.54350	2.091000	0.63221	0.459000	0.35465	ATT		0.303	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ASCC3	10973	broad.mit.edu	37	6	101296492	101296492	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:101296492T>G	ENST00000369162.2	-	4	677	c.333A>C	c.(331-333)gaA>gaC	p.E111D	ASCC3_ENST00000522650.1_Missense_Mutation_p.E111D	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	111					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E111D(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAGCCTTTGTTTCCTTGTGAC	0.398																																					p.E111D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A333C	6						.						69.0	70.0	69.0					6																	101296492		2203	4299	6502	101403213	SO:0001583	missense	10973	exon4			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.333A>C	6.37:g.101296492T>G	ENSP00000358159:p.Glu111Asp		101403213	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580444	0.46006	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723	T;T;T	0.61742	0.29;0.08;0.51	5.85	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.61664	0.2365	M	0.61703	1.905	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.842	D;D;B	0.78314	0.991;0.991;0.237	T	0.65738	-0.6095	10	0.66056	D	0.02	.	10.9099	0.47103	0.0:0.7029:0.0:0.2971	.	111;111;111	Q4G1A0;E7EW23;Q8N3C0	.;.;HELC1_HUMAN	D	111	ENSP00000358159:E111D;ENSP00000430769:E111D;ENSP00000320777:E111D	ENSP00000320777:E111D	E	-	3	2	ASCC3	101403213	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.775000	0.26689	0.800000	0.34041	-0.242000	0.12053	GAA		0.398	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
GRIK2	2898	broad.mit.edu	37	6	102074301	102074301	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:102074301A>G	ENST00000421544.1	+	3	820	c.330A>G	c.(328-330)tcA>tcG	p.S110S	GRIK2_ENST00000369138.1_Silent_p.S110S|GRIK2_ENST00000369134.4_Silent_p.S61S|GRIK2_ENST00000318991.6_Silent_p.S110S|GRIK2_ENST00000413795.1_Silent_p.S110S|GRIK2_ENST00000358361.3_Silent_p.S110S|GRIK2_ENST00000369137.3_Silent_p.S110S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	110					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S110S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCGGGCCTTCACACAGCTCAT	0.532																																					p.S110S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A330G	6						.						171.0	172.0	172.0					6																	102074301		2203	4300	6503	102180994	SO:0001819	synonymous_variant	2898	exon3				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.330A>G	6.37:g.102074301A>G			102180994	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.532	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
HACE1	57531	broad.mit.edu	37	6	105233165	105233165	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105233165A>G	ENST00000262903.4	-	12	1380	c.1104T>C	c.(1102-1104)gaT>gaC	p.D368D	HACE1_ENST00000517995.1_5'Flank|HACE1_ENST00000369125.2_Silent_p.D368D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	368					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.D368D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CTAGCCATTCATCTAACGAGT	0.323																																					p.D368D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1104C	6						.						60.0	62.0	61.0					6																	105233165		2203	4300	6503	105339858	SO:0001819	synonymous_variant	57531	exon12			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1104T>C	6.37:g.105233165A>G			105339858	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1																																																																																				0.323	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
HACE1	57531	broad.mit.edu	37	6	105259193	105259193	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105259193C>T	ENST00000262903.4	-	7	886	c.610G>A	c.(610-612)Gct>Act	p.A204T	HACE1_ENST00000369125.2_Missense_Mutation_p.A204T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	204					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.A204T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TACCTGCAAGCAAAGTACAAT	0.303																																					p.A204T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	6						.						95.0	91.0	92.0					6																	105259193		2203	4300	6503	105365886	SO:0001583	missense	57531	exon7			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.610G>A	6.37:g.105259193C>T	ENSP00000262903:p.Ala204Thr		105365886	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099103	0.76983	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645	T;T;T	0.81163	-1.46;-1.46;-1.46	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90810	0.7114	M	0.90425	3.115	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.989;0.994	D	0.92484	0.5995	10	0.87932	D	0	.	18.5746	0.91150	0.0:1.0:0.0:0.0	.	204;204	E9PGP0;Q8IYU2	.;HACE1_HUMAN	T	204;204;160	ENSP00000262903:A204T;ENSP00000358121:A204T;ENSP00000429765:A160T	ENSP00000262903:A204T	A	-	1	0	HACE1	105365886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.350000	0.73017	2.451000	0.82905	0.563000	0.77884	GCT		0.303	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
HACE1	57531	broad.mit.edu	37	6	105291167	105291167	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105291167C>A	ENST00000262903.4	-	5	609	c.333G>T	c.(331-333)aaG>aaT	p.K111N	RP11-809N15.2_ENST00000422930.2_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.K111N	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	111					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.K111N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCATACATTTCTTCTGCCTGA	0.289																																					p.K111N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G333T	6						.						108.0	121.0	117.0					6																	105291167		2202	4297	6499	105397860	SO:0001583	missense	57531	exon5			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.333G>T	6.37:g.105291167C>A	ENSP00000262903:p.Lys111Asn		105397860	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954823	0.73902	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.71817	-0.17;-0.17;-0.6;-0.17	5.92	5.02	0.67125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	L	0.49699	1.58	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	T	0.77011	-0.2746	10	0.72032	D	0.01	.	10.6671	0.45736	0.0:0.8271:0.0:0.1729	.	111;111	E9PGP0;Q8IYU2	.;HACE1_HUMAN	N	111;111;111;77	ENSP00000262903:K111N;ENSP00000358121:K111N;ENSP00000429765:K111N;ENSP00000427901:K77N	ENSP00000262903:K111N	K	-	3	2	HACE1	105397860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.221000	0.42917	1.422000	0.47177	0.650000	0.86243	AAG		0.289	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
LIN28B	389421	broad.mit.edu	37	6	105526629	105526629	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105526629C>T	ENST00000345080.4	+	4	927	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	242					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P242S(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CAAAAAGGGGCCTTCAGTTCA	0.463																																					p.P242S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	6						.						74.0	75.0	75.0					6																	105526629		2203	4300	6503	105633322	SO:0001583	missense	389421	exon4			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.724C>T	6.37:g.105526629C>T	ENSP00000344401:p.Pro242Ser		105633322	NM_001004317	A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456537	0.84317	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	6.02	0.97574	.	0.049098	0.85682	D	0.000000	T	0.72128	0.3422	L	0.46157	1.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.71826	-0.4475	9	0.66056	D	0.02	-8.1618	20.5407	0.99260	0.0:1.0:0.0:0.0	.	242	Q6ZN17	LN28B_HUMAN	S	242	.	ENSP00000344401:P242S	P	+	1	0	LIN28B	105633322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.462000	0.60121	2.865000	0.98341	0.655000	0.94253	CCT		0.463	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317	
BVES	11149	broad.mit.edu	37	6	105564709	105564709	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105564709A>C	ENST00000314641.5	-	6	899	c.683T>G	c.(682-684)tTa>tGa	p.L228*	BVES_ENST00000336775.5_Nonsense_Mutation_p.L228*|BVES_ENST00000446408.2_Nonsense_Mutation_p.L228*	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	228					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.L228*(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGACCAGCATAAAAATCTGCA	0.323																																					p.L228X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T683G	6						.						59.0	56.0	57.0					6																	105564709		2203	4293	6496	105671402	SO:0001587	stop_gained	11149	exon6			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.683T>G	6.37:g.105564709A>C	ENSP00000313172:p.Leu228*		105671402	NM_007073	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Nonsense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	A	38	6.644138	0.97730	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4858	16.3809	0.83461	1.0:0.0:0.0:0.0	.	.	.	.	X	228	.	ENSP00000313172:L228X	L	-	2	0	BVES	105671402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.326000	0.78906	0.528000	0.53228	TTA		0.323	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
GCNT2	2651	broad.mit.edu	37	6	10529382	10529382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10529382C>T	ENST00000379597.3	+	1	794	c.238C>T	c.(238-240)Cga>Tga	p.R80*	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Nonsense_Mutation_p.R80*|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	80					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R80*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTACATGGTTCGAAGCCACTA	0.433																																					p.R80X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C238T	6						.						124.0	130.0	128.0					6																	10529382		2203	4300	6503	10637368	SO:0001587	stop_gained	2651	exon3			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.238C>T	6.37:g.10529382C>T	ENSP00000368917:p.Arg80*		10637368	NM_145649		Nonsense_Mutation	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	37	6.013081	0.97200	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	.	.	.	5.43	5.43	0.79202	.	0.350897	0.27659	N	0.018390	.	.	.	.	.	.	0.23082	N	0.998323	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-19.4036	13.8371	0.63415	0.153:0.847:0.0:0.0	.	.	.	.	X	80	.	ENSP00000368917:R80X	R	+	1	2	GCNT2	10637368	0.000000	0.05858	0.009000	0.14445	0.324000	0.28378	0.505000	0.22642	2.563000	0.86464	0.555000	0.69702	CGA		0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
GCNT2	2651	broad.mit.edu	37	6	10529972	10529972	+	Silent	SNP	C	C	T	rs532935757		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10529972C>T	ENST00000379597.3	+	1	1384	c.828C>T	c.(826-828)ttC>ttT	p.F276F	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Silent_p.F276F|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	276					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.F276F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTGCTAACTTCGTCCTCCAAG	0.488																																					p.F276F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	6						.						134.0	126.0	129.0					6																	10529972		2203	4300	6503	10637958	SO:0001819	synonymous_variant	2651	exon3			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.828C>T	6.37:g.10529972C>T			10637958	NM_145649		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.488	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
GCNT2	2651	broad.mit.edu	37	6	10556722	10556722	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10556722C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Silent_p.F22F			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.F22F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTATCGTCTTCTCTGTGTTCA	0.388																																					p.F22F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	6						.						101.0	99.0	100.0					6																	10556722		2203	4300	6503	10664708	SO:0001627	intron_variant	2651	exon1			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26653C>T	6.37:g.10556722C>T			10664708	NM_001491		Intron	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
PREP	5550	broad.mit.edu	37	6	105733372	105733372	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:105733372G>A	ENST00000369110.3	-	12	1730	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	513					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.T513M(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTTATGCCACGTCTCTCCATA	0.453																																					p.T513M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1538T	6						.						148.0	127.0	134.0					6																	105733372		2203	4300	6503	105840065	SO:0001583	missense	5550	exon12				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1538C>T	6.37:g.105733372G>A	ENSP00000358106:p.Thr513Met		105840065	NM_002726	Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229398	0.58777	.	.	ENSG00000085377	ENST00000369110	T	0.31247	1.5	6.02	4.25	0.50352	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.043963	0.85682	N	0.000000	T	0.31979	0.0814	M	0.64260	1.97	0.58432	D	0.999999	D	0.58620	0.983	P	0.55222	0.771	T	0.13255	-1.0516	10	0.62326	D	0.03	-5.4864	11.9869	0.53153	0.0651:0.1223:0.8126:0.0	.	513	P48147	PPCE_HUMAN	M	513	ENSP00000358106:T513M	ENSP00000358106:T513M	T	-	2	0	PREP	105840065	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.348000	0.73009	0.873000	0.35799	0.650000	0.86243	ACG		0.453	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		
PRDM1	639	broad.mit.edu	37	6	106555185	106555185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:106555185G>T	ENST00000369096.4	+	7	2536	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	PRDM1_ENST00000369089.3_Nonsense_Mutation_p.E634*|PRDM1_ENST00000369091.2_Nonsense_Mutation_p.E732*	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	768					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E732*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAAAGAGAAAGAAGAAACTGG	0.488			"""D, N, Mis, F, S"""		DLBCL																																p.E768X			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2302T	6						.						81.0	87.0	85.0					6																	106555185		2203	4300	6503	106661878	SO:0001587	stop_gained	639	exon7				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2302G>T	6.37:g.106555185G>T	ENSP00000358092:p.Glu768*		106661878	NM_001198	B2REA6|E1P5E0|Q86WM7	Nonsense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	39	7.806516	0.98501	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	.	.	.	5.78	5.78	0.91487	.	0.147080	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-25.3936	20.0137	0.97470	0.0:0.0:1.0:0.0	.	.	.	.	X	732;768;731;634	.	ENSP00000358085:E634X	E	+	1	0	PRDM1	106661878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.501000	0.90501	2.734000	0.93682	0.563000	0.77884	GAA		0.488	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
GCNT2	2651	broad.mit.edu	37	6	10586695	10586695	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10586695C>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000265012.4_Missense_Mutation_p.S158Y|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.S158Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAGACAGAGTCTGTGGTTTAT	0.478																																					p.S158Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473A	6						.						127.0	122.0	124.0					6																	10586695		2203	4300	6503	10694681	SO:0001627	intron_variant	2651	exon1			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-34889C>A	6.37:g.10586695C>A			10694681	NM_145655		Intron	SNP	ENST00000379597.3	37	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	7.480	0.648510	0.14516	.	.	ENSG00000111846	ENST00000265012	T	0.12672	2.66	5.58	2.81	0.32909	.	.	.	.	.	T	0.04861	0.0131	L	0.46157	1.445	0.19300	N	0.99997	B	0.16396	0.017	B	0.24974	0.057	T	0.39522	-0.9610	9	0.72032	D	0.01	.	6.6955	0.23197	0.1174:0.5631:0.2516:0.068	.	158	Q8NFS9	GNT2C_HUMAN	Y	158	ENSP00000265012:S158Y	ENSP00000265012:S158Y	S	+	2	0	GCNT2	10694681	0.000000	0.05858	0.040000	0.18447	0.568000	0.35870	0.381000	0.20619	0.297000	0.22615	-0.140000	0.14226	TCT		0.478	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	
ATG5	9474	broad.mit.edu	37	6	106727584	106727584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:106727584C>A	ENST00000369076.3	-	5	753	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Nonsense_Mutation_p.E144*|ATG5_ENST00000369070.1_Nonsense_Mutation_p.E66*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	144					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.E144*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTCTGCATTTCATTGATTACT	0.313																																					p.E144X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G430T	6						.						118.0	109.0	112.0					6																	106727584		2203	4300	6503	106834277	SO:0001587	stop_gained	9474	exon5			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.430G>T	6.37:g.106727584C>A	ENSP00000358072:p.Glu144*		106834277	NM_004849	O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	C	41	8.749738	0.98939	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	6.07	0.98685	.	0.043646	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.3837	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	144;144;66	.	ENSP00000343313:E144X	E	-	1	0	ATG5	106834277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.580000	0.67464	2.885000	0.99019	0.655000	0.94253	GAA		0.313	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849	
AIM1	202	broad.mit.edu	37	6	106967178	106967178	+	Nonsense_Mutation	SNP	C	C	T	rs558701608	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:106967178C>T	ENST00000369066.3	+	2	1358	c.871C>T	c.(871-873)Cga>Tga	p.R291*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R291*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTGACATTCGAGGCCAAAG	0.433																																					p.R291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C871T	6						.						56.0	56.0	56.0					6																	106967178		2203	4300	6503	107073871	SO:0001587	stop_gained	202	exon2			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.871C>T	6.37:g.106967178C>T	ENSP00000358062:p.Arg291*		107073871	NM_001624	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	39	7.436096	0.98282	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	5.73	5.73	0.89815	.	0.232228	0.22390	N	0.060695	.	.	.	.	.	.	0.30402	N	0.779886	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.438	0.44448	0.0:0.8515:0.0:0.1485	.	.	.	.	X	699;291	.	ENSP00000285105:R699X	R	+	1	2	AIM1	107073871	0.966000	0.33281	0.222000	0.23844	0.200000	0.23975	2.622000	0.46427	2.709000	0.92574	0.655000	0.94253	CGA		0.433	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
AIM1	202	broad.mit.edu	37	6	106968528	106968528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:106968528G>T	ENST00000369066.3	+	2	2708	c.2221G>T	c.(2221-2223)Gaa>Taa	p.E741*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.E741*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGACCATTTAGAAAAGGTGTT	0.453																																					p.E741X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2221T	6						.						61.0	65.0	63.0					6																	106968528		2203	4300	6503	107075221	SO:0001587	stop_gained	202	exon2			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2221G>T	6.37:g.106968528G>T	ENSP00000358062:p.Glu741*		107075221	NM_001624	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	45	12.000447	0.99626	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	6.16	6.16	0.99307	.	0.385177	0.27266	N	0.020143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	1149;741	.	ENSP00000285105:E1149X	E	+	1	0	AIM1	107075221	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	7.927000	0.87577	2.937000	0.99478	0.650000	0.86243	GAA		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
RTN4IP1	84816	broad.mit.edu	37	6	107019952	107019952	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:107019952A>G	ENST00000369063.3	-	9	1575	c.1110T>C	c.(1108-1110)ttT>ttC	p.F370F	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	370						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.F370F(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAGAAAAAGGAAAGGTTTGTT	0.383																																					p.F370F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1110C	6						.						111.0	113.0	112.0					6																	107019952		2203	4300	6503	107126645	SO:0001819	synonymous_variant	84816	exon9			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1110T>C	6.37:g.107019952A>G			107126645	NM_032730	Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	ENST00000369063.3	37	CCDS5056.1																																																																																				0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1		
QRSL1	55278	broad.mit.edu	37	6	107113791	107113791	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:107113791C>T	ENST00000369046.4	+	11	1605	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1									p.P501S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGTACAGTTTCCTGTTATTCA	0.383																																					p.P501S	NSCLC(192;2127 2142 11668 26277 49545)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1501T	6						.						57.0	54.0	55.0					6																	107113791		2203	4300	6503	107220484	SO:0001583	missense	55278	exon11			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1501C>T	6.37:g.107113791C>T	ENSP00000358042:p.Pro501Ser		107220484	NM_018292		Missense_Mutation	SNP	ENST00000369046.4	37	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150805	0.57151	.	.	ENSG00000130348	ENST00000369046	T	0.43688	0.94	5.74	5.74	0.90152	.	0.100169	0.64402	D	0.000001	T	0.17365	0.0417	N	0.20766	0.605	0.80722	D	1	B	0.23316	0.083	B	0.19391	0.025	T	0.04551	-1.0943	10	0.54805	T	0.06	-16.3761	13.1603	0.59540	0.0:0.9272:0.0:0.0728	.	501	Q9H0R6	GATA_HUMAN	S	501	ENSP00000358042:P501S	ENSP00000358042:P501S	P	+	1	0	QRSL1	107220484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.912000	0.63335	2.711000	0.92665	0.561000	0.74099	CCT		0.383	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292	
PDSS2	57107	broad.mit.edu	37	6	107475967	107475967	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:107475967G>T	ENST00000369037.4	-	8	1333	c.1056C>A	c.(1054-1056)atC>atA	p.I352I	PDSS2_ENST00000453874.2_Silent_p.I250I	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	352					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.I352I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TGCCAGCTTTGATTCTTTCTC	0.453																																					p.I352I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056A	6						.						62.0	57.0	59.0					6																	107475967		2203	4300	6503	107582660	SO:0001819	synonymous_variant	57107	exon8			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.1056C>A	6.37:g.107475967G>T			107582660	NM_020381	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	CCDS5059.1																																																																																				0.453	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	
SCML4	256380	broad.mit.edu	37	6	108066254	108066254	+	Missense_Mutation	SNP	C	C	T	rs555376188		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:108066254C>T	ENST00000369020.3	-	5	826	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	SCML4_ENST00000369021.3_Missense_Mutation_p.R165Q|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369022.2_Missense_Mutation_p.R136Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R165Q(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CAGGAGGCTTCGGCACAGCTT	0.587																																					p.R194Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G581A	6						.						65.0	55.0	59.0					6																	108066254		2203	4300	6503	108172947	SO:0001583	missense	256380	exon5				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.581G>A	6.37:g.108066254C>T	ENSP00000358016:p.Arg194Gln		108172947	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900077	0.52227	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.38	3.44	0.39384	.	0.169399	0.53938	N	0.000054	T	0.14700	0.0355	L	0.37750	1.13	0.58432	D	0.999999	B;B;P	0.39003	0.393;0.327;0.654	B;B;B	0.35312	0.081;0.053;0.2	T	0.03662	-1.1015	10	0.11794	T	0.64	.	12.8262	0.57721	0.0:0.8468:0.0:0.1532	.	194;194;165	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	136;194;165;165	ENSP00000358018:R136Q;ENSP00000358016:R194Q;ENSP00000358017:R165Q;ENSP00000404688:R165Q	ENSP00000358016:R194Q	R	-	2	0	SCML4	108172947	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	2.326000	0.43849	1.475000	0.48197	0.655000	0.94253	CGA		0.587	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
SNX3	8724	broad.mit.edu	37	6	108535732	108535732	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:108535732C>A	ENST00000230085.8	-	3	691	c.353G>T	c.(352-354)aGa>aTa	p.R118I	SNX3_ENST00000349379.5_Missense_Mutation_p.R96I|SNX3_ENST00000426155.2_Missense_Mutation_p.R86I	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	118	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)	p.R118I(1)		large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		CCCTTGTTTTCTTTCCTCAAT	0.393																																					p.R86I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257T	6						.						96.0	85.0	89.0					6																	108535732		2203	4300	6503	108642425	SO:0001583	missense	8724	exon2			AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"""Sorting nexins"""	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.353G>T	6.37:g.108535732C>A	ENSP00000230085:p.Arg118Ile		108642425	NM_152827	A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530541	0.85706	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T;T	0.64085	-0.08;-0.08;-0.08	5.46	5.46	0.80206	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	H	0.99712	4.72	0.80722	D	1	D;D	0.62365	0.989;0.991	D;D	0.71870	0.951;0.975	D	0.92039	0.5639	10	0.87932	D	0	-21.0364	14.5159	0.67818	0.0:0.9274:0.0:0.0726	.	86;118	O60493-2;O60493	.;SNX3_HUMAN	I	118;86;96	ENSP00000230085:R118I;ENSP00000401779:R86I;ENSP00000296991:R96I	ENSP00000230085:R118I	R	-	2	0	SNX3	108642425	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.033000	0.70925	2.562000	0.86427	0.462000	0.41574	AGA		0.393	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1		
MAK	4117	broad.mit.edu	37	6	10791917	10791917	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10791917G>T	ENST00000313243.2	-	10	1689	c.1307C>A	c.(1306-1308)tCt>tAt	p.S436Y	MAK_ENST00000354489.2_Missense_Mutation_p.S436Y|MAK_ENST00000474039.1_Missense_Mutation_p.S436Y|MAK_ENST00000538030.1_Missense_Mutation_p.S436Y|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	436					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.S436Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CCGAAATGGAGAATCTTTTTT	0.348																																					p.S436Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1307A	6						.						46.0	49.0	48.0					6																	10791917		2203	4300	6503	10899903	SO:0001583	missense	4117	exon9				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1307C>A	6.37:g.10791917G>T	ENSP00000313021:p.Ser436Tyr		10899903	NM_005906	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936939	0.18206	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030	T;T;T	0.72725	-0.68;-0.68;-0.67	5.25	1.32	0.21799	.	0.920541	0.09167	N	0.839425	T	0.48750	0.1517	M	0.62723	1.935	0.44890	D	0.997909	B	0.33477	0.413	B	0.35813	0.211	T	0.56226	-0.8014	10	0.54805	T	0.06	.	2.7053	0.05160	0.2723:0.1186:0.4878:0.1213	.	436	P20794	MAK_HUMAN	Y	436	ENSP00000313021:S436Y;ENSP00000346484:S436Y;ENSP00000442250:S436Y	ENSP00000313021:S436Y	S	-	2	0	MAK	10899903	0.854000	0.29725	0.729000	0.30791	0.153000	0.21895	0.993000	0.29680	0.282000	0.22254	-0.150000	0.13652	TCT		0.348	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906	
LACE1	246269	broad.mit.edu	37	6	108723252	108723252	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:108723252C>A	ENST00000368977.4	+	7	987	c.801C>A	c.(799-801)gtC>gtA	p.V267V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	267						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.V267V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCATAGCAGTCTTGAAGGTAA	0.308																																					p.V267V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C801A	6						.						36.0	35.0	35.0					6																	108723252		2199	4291	6490	108829945	SO:0001819	synonymous_variant	246269	exon7			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.801C>A	6.37:g.108723252C>A			108829945	NM_145315	Q8N6A3	Silent	SNP	ENST00000368977.4	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	8.112	0.779009	0.16120	.	.	ENSG00000135537	ENST00000421954	.	.	.	5.03	1.9	0.25705	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30621	-0.9972	4	.	.	.	-10.2509	8.618	0.33845	0.0:0.4637:0.4453:0.0911	.	.	.	.	Y	135	.	.	S	+	2	0	LACE1	108829945	0.956000	0.32656	1.000000	0.80357	0.931000	0.56810	0.138000	0.16016	0.571000	0.29365	0.579000	0.79373	TCT		0.308	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
ARMC2	84071	broad.mit.edu	37	6	109220944	109220944	+	Missense_Mutation	SNP	G	G	A	rs6911885	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109220944G>A	ENST00000392644.4	+	7	964	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ARMC2_ENST00000368972.3_Missense_Mutation_p.E101K	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	266								p.E259K(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGAAGTAGACGAAGTCTTTTG	0.358																																					p.E266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	6						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	55.0	58.0	57.0		796	5.7	0.8	6	dbSNP_116	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC2	NM_032131.4	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	266/868	109220944	2,13004	2203	4300	6503	109327637	SO:0001583	missense	84071	exon7			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.796G>A	6.37:g.109220944G>A	ENSP00000376417:p.Glu266Lys		109327637	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555730	0.27827	2.27E-4	1.16E-4	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.56275	0.47;0.47	5.65	5.65	0.86999	Armadillo-like helical (1);	0.433276	0.25616	N	0.029447	T	0.28433	0.0703	L	0.55481	1.735	0.29837	N	0.829578	B	0.30193	0.272	B	0.15052	0.012	T	0.08330	-1.0727	10	0.31617	T	0.26	.	12.6187	0.56592	0.0791:0.0:0.9209:0.0	rs6911885;rs6911885	266	Q8NEN0	ARMC2_HUMAN	K	101;266	ENSP00000357968:E101K;ENSP00000376417:E266K	ENSP00000357968:E101K	E	+	1	0	ARMC2	109327637	0.996000	0.38824	0.826000	0.32828	0.328000	0.28507	4.015000	0.57152	2.821000	0.97095	0.650000	0.86243	GAA		0.358	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
ARMC2	84071	broad.mit.edu	37	6	109232174	109232174	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109232174G>T	ENST00000392644.4	+	9	1264	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	ARMC2_ENST00000368972.3_Missense_Mutation_p.D201Y	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	366								p.D359Y(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGAGAAGAATGATTCTTTGAT	0.338																																					p.D366Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096T	6						.						51.0	51.0	51.0					6																	109232174		2203	4298	6501	109338867	SO:0001583	missense	84071	exon9			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1096G>T	6.37:g.109232174G>T	ENSP00000376417:p.Asp366Tyr		109338867	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966431	0.53507	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.48201	0.82;0.82	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.83483	2.645	0.54753	D	0.999989	P	0.37122	0.583	B	0.32342	0.144	T	0.51896	-0.8647	10	0.52906	T	0.07	.	15.3039	0.73976	0.0:0.0:0.8597:0.1403	.	366	Q8NEN0	ARMC2_HUMAN	Y	201;366	ENSP00000357968:D201Y;ENSP00000376417:D366Y	ENSP00000357968:D201Y	D	+	1	0	ARMC2	109338867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.276000	0.65580	2.441000	0.82636	0.655000	0.94253	GAT		0.338	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
GCM2	9247	broad.mit.edu	37	6	10874321	10874321	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10874321C>A	ENST00000379491.4	-	5	1575	c.1428G>T	c.(1426-1428)gaG>gaT	p.E476D	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	476					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.E476D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CATCCCAAGTCTCTGCTTCAT	0.517																																					p.E476D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1428T	6						.						71.0	67.0	68.0					6																	10874321		2203	4300	6503	10982307	SO:0001583	missense	9247	exon5			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.1428G>T	6.37:g.10874321C>A	ENSP00000368805:p.Glu476Asp		10982307	NM_004752	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323965	0.24080	.	.	ENSG00000124827	ENST00000379491	T	0.68624	-0.34	5.27	-3.09	0.05331	.	0.180277	0.48286	N	0.000190	T	0.21761	0.0524	L	0.31845	0.965	0.53688	D	0.999976	B	0.21606	0.058	B	0.17098	0.017	T	0.08229	-1.0732	10	0.20519	T	0.43	-18.2543	0.5356	0.00636	0.2454:0.3074:0.2053:0.2419	.	476	O75603	GCM2_HUMAN	D	476	ENSP00000368805:E476D	ENSP00000368805:E476D	E	-	3	2	GCM2	10982307	0.010000	0.17322	0.011000	0.14972	0.838000	0.47535	-0.082000	0.11304	-0.572000	0.06006	0.591000	0.81541	GAG		0.517	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
GCM2	9247	broad.mit.edu	37	6	10876732	10876732	+	Silent	SNP	G	G	A	rs145276001	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10876732G>A	ENST00000379491.4	-	3	549	c.402C>T	c.(400-402)agC>agT	p.S134S	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	134					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.S134S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CGGGGTATCCGCTGTGCCCTC	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0				p.S134S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	6						.	G		3,4403	6.2+/-15.9	0,3,2200	105.0	90.0	95.0		402	-7.8	0.4	6	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GCM2	NM_004752.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		134/507	10876732	4,13002	2203	4300	6503	10984718	SO:0001819	synonymous_variant	9247	exon3			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.402C>T	6.37:g.10876732G>A			10984718	NM_004752	D3GDV6|Q5THN5	Silent	SNP	ENST00000379491.4	37	CCDS4517.1																																																																																				0.478	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
ARMC2	84071	broad.mit.edu	37	6	109294665	109294665	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109294665G>A	ENST00000392644.4	+	18	2720	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	ARMC2_ENST00000368972.3_Missense_Mutation_p.R686Q	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	851								p.R844Q(1)|p.R844P(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTTCTAAACCGAATTCAGAGA	0.448																																					p.R851Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2552A	6						.						172.0	168.0	169.0					6																	109294665		2203	4300	6503	109401358	SO:0001583	missense	84071	exon18			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2552G>A	6.37:g.109294665G>A	ENSP00000376417:p.Arg851Gln		109401358	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	ENST00000392644.4	37	CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125547	0.77436	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	T;T	0.35048	1.33;1.35	5.16	4.27	0.50696	.	0.326060	0.29473	N	0.012058	T	0.32224	0.0822	L	0.32530	0.975	0.40379	D	0.979425	D	0.76494	0.999	P	0.58970	0.849	T	0.07462	-1.0771	10	0.66056	D	0.02	-1.487	11.4828	0.50335	0.1424:0.0:0.8576:0.0	.	851	Q8NEN0	ARMC2_HUMAN	Q	686;851	ENSP00000357968:R686Q;ENSP00000376417:R851Q	ENSP00000357968:R686Q	R	+	2	0	ARMC2	109401358	0.991000	0.36638	0.966000	0.40874	0.966000	0.64601	3.656000	0.54467	2.677000	0.91161	0.655000	0.94253	CGA		0.448	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
PPIL6	285755	broad.mit.edu	37	6	109752505	109752505	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109752505G>T	ENST00000521072.2	-	3	855	c.275C>A	c.(274-276)tCt>tAt	p.S92Y	PPIL6_ENST00000424445.2_Missense_Mutation_p.S60Y|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.S92Y|PPIL6_ENST00000524031.1_5'Flank	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	92					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S92Y(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ATTAACAAAAGAAATCACAGA	0.403																																					p.S92Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C275A	6						.						73.0	72.0	73.0					6																	109752505		2203	4300	6503	109859198	SO:0001583	missense	285755	exon3				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.275C>A	6.37:g.109752505G>T	ENSP00000427929:p.Ser92Tyr		109859198	NM_001111298	A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.656060|1.656060	0.29425|0.29425	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000520723;ENST00000518648|ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394	.|T;T;T;T	.|0.30714	.|2.1;2.11;2.11;1.52	5.26|5.26	4.39|4.39	0.52855|0.52855	.|.	.|0.108693	.|0.64402	.|D	.|0.000005	T|T	0.11281|0.11281	0.0275|0.0275	N|N	0.19112|0.19112	0.55|0.55	0.34160|0.34160	D|D	0.668536|0.668536	.|P;P;P	.|0.47302	.|0.824;0.893;0.824	.|B;B;B	.|0.39738	.|0.242;0.308;0.242	T|T	0.02774|0.02774	-1.1112|-1.1112	5|10	.|0.87932	.|D	.|0	-10.7778|-10.7778	14.5991|14.5991	0.68427|0.68427	0.0:0.8457:0.1543:0.0|0.0:0.8457:0.1543:0.0	.|.	.|92;60;92	.|A9NIU9;E7EX15;Q8IXY8	.|.;.;PPIL6_HUMAN	L|Y	31;39|60;92;92;49	.|ENSP00000407731:S60Y;ENSP00000392257:S92Y;ENSP00000427929:S92Y;ENSP00000411731:S49Y	.|ENSP00000411731:S49Y	F|S	-|-	3|2	2|0	PPIL6|PPIL6	109859198|109859198	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.270000|0.270000	0.26580|0.26580	4.103000|4.103000	0.57783|0.57783	1.198000|1.198000	0.43158|0.43158	-0.165000|-0.165000	0.13383|0.13383	TTC|TCT		0.403	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4		
ZBTB24	9841	broad.mit.edu	37	6	109788857	109788857	+	Splice_Site	SNP	G	G	A	rs387907106		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109788857G>A	ENST00000230122.3	-	6	1536	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	457					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R457*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AAACTTTACCGATGGATTCTG	0.388																																					p.R457X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1369T	6						.						101.0	99.0	100.0					6																	109788857		2203	4300	6503	109895550	SO:0001630	splice_region_variant	9841	exon6			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1370+1C>T	6.37:g.109788857G>A			109895550	NM_014797	Q17RC6|Q5TED5|Q8N455	Nonsense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280252	0.98182	.	.	ENSG00000112365	ENST00000230122	.	.	.	5.71	4.83	0.62350	.	0.058878	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.9129	13.0125	0.58739	0.0:0.0:0.5577:0.4423	.	.	.	.	X	457	.	ENSP00000230122:R457X	R	-	1	2	ZBTB24	109895550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.381000	0.44336	1.397000	0.46682	0.650000	0.86243	CGA		0.388	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	Nonsense_Mutation
AK9	221264	broad.mit.edu	37	6	109962806	109962806	+	Missense_Mutation	SNP	C	C	T	rs148448147	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109962806C>T	ENST00000424296.2	-	10	924	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R283Q|AK9_ENST00000285397.5_Missense_Mutation_p.R283Q	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	283	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R283Q(2)									ATATTTAAGTCGATCCATAAC	0.348													C|||	3	0.000599042	0.0023	0.0	5008	,	,		19792	0.0		0.0	False		,,,				2504	0.0				p.R283Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G848A	6						.	C	GLN/ARG,GLN/ARG	17,4389	24.3+/-50.5	0,17,2186	105.0	96.0	99.0		848,848	3.7	0.6	6	dbSNP_134	99	0,8598		0,0,4299	yes	missense,missense	AKD1	NM_001145128.2,NM_145025.4	43,43	0,17,6485	TT,TC,CC		0.0,0.3858,0.1307	probably-damaging,probably-damaging	283/1912,283/422	109962806	17,12987	2203	4299	6502	110069499	SO:0001583	missense	221264	exon10			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.848G>A	6.37:g.109962806C>T	ENSP00000410186:p.Arg283Gln		110069499	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.29	1.593716	0.28445	0.003858	0.0	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084	T;T;T;T	0.69806	-0.43;-0.34;-0.28;0.55	5.44	3.65	0.41850	.	0.183932	0.44688	N	0.000436	T	0.37571	0.1008	L	0.40543	1.245	0.26402	N	0.97641	D;P	0.57899	0.981;0.854	B;B	0.41510	0.359;0.187	T	0.14282	-1.0478	9	.	.	.	-6.5868	9.6202	0.39716	0.0:0.8365:0.0:0.1635	.	283;283	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	Q	283;283;283;206	ENSP00000410186:R283Q;ENSP00000357944:R283Q;ENSP00000285397:R283Q;ENSP00000407510:R206Q	.	R	-	2	0	AKD1	110069499	0.519000	0.26242	0.631000	0.29282	0.272000	0.26649	1.281000	0.33214	1.303000	0.44873	0.650000	0.86243	CGA		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
SYCP2L	221711	broad.mit.edu	37	6	10912948	10912948	+	Missense_Mutation	SNP	G	G	A	rs375562683		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10912948G>A	ENST00000283141.6	+	13	1257	c.961G>A	c.(961-963)Gac>Aac	p.D321N	SYCP2L_ENST00000543878.1_Missense_Mutation_p.D162N|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	321						nucleus (GO:0005634)		p.D321N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATTTTGGATCGACTTCAACCT	0.348																																					p.D321N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961A	6						.						114.0	105.0	108.0					6																	10912948		1846	4080	5926	11020934	SO:0001583	missense	221711	exon13			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.961G>A	6.37:g.10912948G>A	ENSP00000283141:p.Asp321Asn		11020934	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227519	0.79576	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.71579	-0.58;0.42	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.97110	0.839;1.0	D	0.85247	0.1042	10	0.87932	D	0	-5.5838	15.9513	0.79840	0.0:0.1353:0.8647:0.0	.	162;321	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	N	162;321	ENSP00000440676:D162N;ENSP00000283141:D321N	ENSP00000283141:D321N	D	+	1	0	SYCP2L	11020934	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.569000	0.82380	1.284000	0.44531	-0.150000	0.13652	GAC		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
AK9	221264	broad.mit.edu	37	6	109996917	109996917	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:109996917G>T	ENST00000424296.2	-	2	108	c.32C>A	c.(31-33)cCt>cAt	p.P11H	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.P11H|AK9_ENST00000285397.5_Missense_Mutation_p.P11H	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	11					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.P11H(2)									ATCTGCAAAAGGATACTCTTC	0.328																																					p.P11H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32A	6						.						63.0	66.0	65.0					6																	109996917		2203	4294	6497	110103610	SO:0001583	missense	221264	exon2			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.32C>A	6.37:g.109996917G>T	ENSP00000410186:p.Pro11His		110103610	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563284	0.65538	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.72282	-0.48;-0.64;-0.38;-0.46	5.15	5.15	0.70609	.	0.224630	0.46145	D	0.000301	T	0.74756	0.3758	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.963;0.997	P;P	0.58013	0.73;0.831	T	0.74000	-0.3805	9	.	.	.	-9.2772	17.768	0.88484	0.0:0.0:1.0:0.0	.	11;11	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	H	11	ENSP00000410186:P11H;ENSP00000357944:P11H;ENSP00000285397:P11H;ENSP00000436325:P11H	.	P	-	2	0	AKD1	110103610	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	6.012000	0.70767	2.567000	0.86603	0.591000	0.81541	CCT		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
GPR6	2830	broad.mit.edu	37	6	110301377	110301377	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:110301377T>G	ENST00000275169.3	+	1	1080	c.1062T>G	c.(1060-1062)ttT>ttG	p.F354L	GPR6_ENST00000414000.2_Missense_Mutation_p.F369L	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	354					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F354L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AAGTGCCCTTTCGTTCCAGGT	0.592																																					p.F354L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1062G	6						.						102.0	105.0	104.0					6																	110301377		2203	4300	6503	110408070	SO:0001583	missense	2830	exon1				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.1062T>G	6.37:g.110301377T>G	ENSP00000275169:p.Phe354Leu		110408070	NM_005284	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222420	0.39300	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.36340	1.26;1.26	4.93	4.05	0.47172	.	0.235104	0.37136	N	0.002239	T	0.08044	0.0201	N	0.17474	0.49	0.53005	D	0.99996	P;B	0.48089	0.905;0.002	B;B	0.40825	0.341;0.004	T	0.05903	-1.0857	10	0.11182	T	0.66	.	7.4603	0.27291	0.0:0.7186:0.0:0.2814	.	369;354	B4DHS9;P46095	.;GPR6_HUMAN	L	332;369;354	ENSP00000406986:F369L;ENSP00000275169:F354L	ENSP00000275169:F354L	F	+	3	2	GPR6	110408070	0.995000	0.38212	1.000000	0.80357	0.903000	0.53119	0.421000	0.21280	1.276000	0.44395	-0.242000	0.12053	TTT		0.592	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1		
SYCP2L	221711	broad.mit.edu	37	6	10956428	10956428	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:10956428C>A	ENST00000283141.6	+	25	2412	c.2116C>A	c.(2116-2118)Ctc>Atc	p.L706I		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	706						nucleus (GO:0005634)		p.L706I(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTCTGCCATTCTCCCAACCTT	0.358																																					p.L706I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2116A	6						.						74.0	67.0	69.0					6																	10956428		1823	4089	5912	11064414	SO:0001583	missense	221711	exon25			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2116C>A	6.37:g.10956428C>A	ENSP00000283141:p.Leu706Ile		11064414	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	0.553	-0.848558	0.02651	.	.	ENSG00000153157	ENST00000283141	T	0.15372	2.43	5.76	-0.581	0.11713	.	0.400583	0.22752	N	0.056062	T	0.01189	0.0039	N	0.02011	-0.69	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.44452	-0.9327	10	0.14656	T	0.56	-0.1132	5.289	0.15717	0.4361:0.3244:0.2394:0.0	.	706	Q5T4T6	SYC2L_HUMAN	I	706	ENSP00000283141:L706I	ENSP00000283141:L706I	L	+	1	0	SYCP2L	11064414	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.353000	0.07691	-0.320000	0.08640	0.655000	0.94253	CTC		0.358	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
WASF1	8936	broad.mit.edu	37	6	110429816	110429816	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:110429816C>T	ENST00000392589.1	-	6	1173	c.337G>A	c.(337-339)Gat>Aat	p.D113N	WASF1_ENST00000392586.1_Missense_Mutation_p.D113N|WASF1_ENST00000392587.2_Missense_Mutation_p.D113N|WASF1_ENST00000392588.1_Missense_Mutation_p.D113N|WASF1_ENST00000359451.2_Missense_Mutation_p.D113N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	113					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)	p.D113N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTCTTGCGATCGAAAAGCTGC	0.368																																					p.D113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337A	6						.						99.0	92.0	95.0					6																	110429816		2203	4300	6503	110536509	SO:0001583	missense	8936	exon5			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.337G>A	6.37:g.110429816C>T	ENSP00000376368:p.Asp113Asn		110536509	NM_001024934	E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372774	0.82573	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451;ENST00000444391;ENST00000265601;ENST00000368938	T;T;T;T;T;T;T;T	0.41400	1.01;1.01;1.01;1.01;1.01;1.01;1.0;1.0	6.06	6.06	0.98353	.	0.133860	0.64402	D	0.000002	T	0.16557	0.0398	L	0.34521	1.04	0.48830	D	0.999717	P	0.35493	0.505	B	0.21360	0.034	T	0.03684	-1.1013	10	0.23891	T	0.37	.	16.0477	0.80731	0.0:0.8667:0.1333:0.0	.	113	Q92558	WASF1_HUMAN	N	113	ENSP00000376365:D113N;ENSP00000376366:D113N;ENSP00000376368:D113N;ENSP00000376367:D113N;ENSP00000352425:D113N;ENSP00000407041:D113N;ENSP00000265601:D113N;ENSP00000357934:D113N	ENSP00000265601:D113N	D	-	1	0	WASF1	110536509	0.999000	0.42202	0.989000	0.46669	0.964000	0.63967	2.962000	0.49176	2.880000	0.98712	0.650000	0.86243	GAT		0.368	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931	
SLC22A16	85413	broad.mit.edu	37	6	110763546	110763546	+	Missense_Mutation	SNP	C	C	T	rs149834139		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:110763546C>T	ENST00000368919.3	-	4	1150	c.1084G>A	c.(1084-1086)Gtt>Att	p.V362I	SLC22A16_ENST00000439654.1_Missense_Mutation_p.V362I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.V328I|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	362					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.V362I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ATTAGCCAAACGGTAAGTGTC	0.418																																					p.V362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	6						.	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	117.0	115.0	116.0		1084	-6.7	0.0	6	dbSNP_134	116	0,8600		0,0,4300	yes	missense	SLC22A16	NM_033125.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	362/578	110763546	2,13004	2203	4300	6503	110870239	SO:0001583	missense	85413	exon4				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1084G>A	6.37:g.110763546C>T	ENSP00000357915:p.Val362Ile		110870239	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546545	0.13312	4.54E-4	0.0	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.73681	0.36;0.36;0.36;0.36;0.36;-0.77	4.78	-6.67	0.01783	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.881639	0.09911	N	0.739817	T	0.19525	0.0469	N	0.20483	0.58	0.24646	N	0.993546	B;B	0.33000	0.393;0.108	B;B	0.24006	0.05;0.029	T	0.26326	-1.0106	10	0.02654	T	1	.	7.2502	0.26146	0.0:0.3758:0.27:0.3542	.	362;328	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	I	362;279;328;362;192;319	ENSP00000357915:V362I;ENSP00000395642:V279I;ENSP00000328583:V328I;ENSP00000408799:V362I;ENSP00000409306:V192I;ENSP00000416310:V319I	ENSP00000328583:V328I	V	-	1	0	SLC22A16	110870239	0.036000	0.19791	0.000000	0.03702	0.112000	0.19704	0.163000	0.16520	-1.787000	0.01268	0.655000	0.94253	GTT		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125	
CDK19	23097	broad.mit.edu	37	6	110948235	110948235	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:110948235G>A	ENST00000368911.3	-	7	939	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	CDK19_ENST00000323817.3_Missense_Mutation_p.R194W|CDK19_ENST00000413605.2_Missense_Mutation_p.R130W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R254W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTAAATATCCGATCCAGTTGA	0.328																																					p.R254W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C760T	6						.						120.0	114.0	116.0					6																	110948235		2203	4300	6503	111054928	SO:0001583	missense	23097	exon7			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.760C>T	6.37:g.110948235G>A	ENSP00000357907:p.Arg254Trp		111054928	NM_015076	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528512	0.64860	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.11	4.23	0.50019	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.76934	-0.2775	10	0.87932	D	0	-25.4413	14.9032	0.70696	0.0:0.0:0.8555:0.1445	.	130;254	B4DUB1;Q9BWU1	.;CDK19_HUMAN	W	254;194;193;130;194	ENSP00000357907:R254W;ENSP00000317665:R194W;ENSP00000410604:R130W;ENSP00000415621:R194W	ENSP00000317665:R194W	R	-	1	2	CDK19	111054928	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.263000	0.58853	1.146000	0.42352	-0.538000	0.04264	CGG		0.328	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	
CDK19	23097	broad.mit.edu	37	6	110948306	110948306	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:110948306G>A	ENST00000368911.3	-	7	868	c.689C>T	c.(688-690)tCg>tTg	p.S230L	CDK19_ENST00000323817.3_Missense_Mutation_p.S170L|CDK19_ENST00000413605.2_Missense_Mutation_p.S106L	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S230L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						AATAGGTTCCGAAGTCAACAA	0.353																																					p.S230L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C689T	6						.						106.0	104.0	104.0					6																	110948306		2203	4300	6503	111054999	SO:0001583	missense	23097	exon7			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.689C>T	6.37:g.110948306G>A	ENSP00000357907:p.Ser230Leu		111054999	NM_015076	Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892511	0.52121	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	N	0.00859	-1.14	0.80722	D	1	D;P	0.62365	0.991;0.891	P;B	0.58780	0.845;0.34	T	0.59873	-0.7372	10	0.26408	T	0.33	-29.8161	18.8613	0.92273	0.0:0.0:1.0:0.0	.	106;230	B4DUB1;Q9BWU1	.;CDK19_HUMAN	L	230;170;169;106;170	ENSP00000357907:S230L;ENSP00000317665:S170L;ENSP00000410604:S106L;ENSP00000415621:S170L	ENSP00000317665:S170L	S	-	2	0	CDK19	111054999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.464000	0.83262	0.455000	0.32223	TCG		0.353	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076	
AMD1	262	broad.mit.edu	37	6	111210151	111210151	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111210151C>A	ENST00000368885.3	+	3	625	c.289C>A	c.(289-291)Ctt>Att	p.L97I	AMD1_ENST00000368877.5_Missense_Mutation_p.L68I|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.L28I	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	97					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)	p.L97I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CCTGTTGAAGCTTGCTAGGGA	0.403																																					p.L97I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C289A	6						.						99.0	90.0	93.0					6																	111210151		2203	4300	6503	111316844	SO:0001583	missense	262	exon3			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.289C>A	6.37:g.111210151C>A	ENSP00000357880:p.Leu97Ile		111316844	NM_001634	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822211	0.90873	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.45228	1.405	0.80722	D	1	P;P	0.47191	0.891;0.614	P;P	0.56960	0.81;0.775	T	0.56123	-0.8031	9	0.27082	T	0.32	.	19.5083	0.95130	0.0:1.0:0.0:0.0	.	68;97	A6NNH3;P17707	.;DCAM_HUMAN	I	97;68;28	.	ENSP00000357870:L28I	L	+	1	0	AMD1	111316844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.635000	0.67841	2.611000	0.88343	0.591000	0.81541	CTT		0.403	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		
RPF2	84154	broad.mit.edu	37	6	111306257	111306257	+	Silent	SNP	G	G	A	rs370938715		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111306257G>A	ENST00000441448.2	+	2	164	c.72G>A	c.(70-72)ccG>ccA	p.P24P		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	24						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P24P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AGAGAGAACCGAAACTCAATG	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17698	0.0		0.0	False		,,,				2504	0.0				p.P24P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	6						.	G		1,4405	2.1+/-5.4	0,1,2202	87.0	100.0	95.0		72	-6.0	1.0	6		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RPF2	NM_032194.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		24/307	111306257	2,13004	2203	4300	6503	111412950	SO:0001819	synonymous_variant	84154	exon2			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.72G>A	6.37:g.111306257G>A			111412950	NM_032194	Q5VXN1|Q8N4A1	Silent	SNP	ENST00000441448.2	37	CCDS5088.1																																																																																				0.338	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
REV3L	5980	broad.mit.edu	37	6	111672895	111672895	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111672895C>A	ENST00000358835.3	-	20	7738	c.7284G>T	c.(7282-7284)atG>atT	p.M2428I	REV3L_ENST00000368802.3_Missense_Mutation_p.M2428I|REV3L_ENST00000368805.1_Missense_Mutation_p.M2428I|REV3L_ENST00000435970.1_Missense_Mutation_p.M2350I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2428					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.M2350I(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCCGAGAGATCATCCGACATA	0.388								DNA polymerases (catalytic subunits)																													p.M2428I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7284T	6						.						92.0	80.0	84.0					6																	111672895		2203	4300	6503	111779588	SO:0001583	missense	5980	exon19			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7284G>T	6.37:g.111672895C>A	ENSP00000351697:p.Met2428Ile		111779588	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934145	0.73442	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.40476	3.05;3.05;3.05;1.03	4.83	4.83	0.62350	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.136421	0.50627	D	0.000112	T	0.35393	0.0930	L	0.39245	1.2	0.41594	D	0.988813	P	0.38978	0.652	P	0.48063	0.565	T	0.13737	-1.0498	10	0.35671	T	0.21	-5.2963	17.9332	0.89005	0.0:1.0:0.0:0.0	.	2428	O60673	DPOLZ_HUMAN	I	2428;2428;2428;2350;501	ENSP00000357792:M2428I;ENSP00000357795:M2428I;ENSP00000351697:M2428I;ENSP00000402003:M2350I	ENSP00000351697:M2428I	M	-	3	0	REV3L	111779588	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.073000	0.50057	2.217000	0.71921	0.585000	0.79938	ATG		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111688541	111688541	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111688541C>A	ENST00000358835.3	-	15	6904	c.6450G>T	c.(6448-6450)gaG>gaT	p.E2150D	REV3L_ENST00000368802.3_Missense_Mutation_p.E2150D|REV3L_ENST00000368805.1_Missense_Mutation_p.E2150D|REV3L_ENST00000435970.1_Missense_Mutation_p.E2072D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2150					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.E2072D(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGGCAGCTCCTCTACTGGTG	0.443								DNA polymerases (catalytic subunits)																													p.E2150D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6450T	6						.						91.0	91.0	91.0					6																	111688541		2203	4300	6503	111795234	SO:0001583	missense	5980	exon14			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6450G>T	6.37:g.111688541C>A	ENSP00000351697:p.Glu2150Asp		111795234	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285321	0.23478	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.01548	4.88;4.88;4.88;4.78	5.73	1.4	0.22301	Ribonuclease H-like (1);	0.880504	0.10012	N	0.727013	T	0.00328	0.0010	N	0.12182	0.205	0.22305	N	0.999213	B	0.02656	0.0	B	0.04013	0.001	T	0.40979	-0.9534	10	0.13108	T	0.6	-0.4527	2.7196	0.05197	0.2034:0.4248:0.0:0.3718	.	2150	O60673	DPOLZ_HUMAN	D	2150;2150;2150;2072;223	ENSP00000357792:E2150D;ENSP00000357795:E2150D;ENSP00000351697:E2150D;ENSP00000402003:E2072D	ENSP00000351697:E2150D	E	-	3	2	REV3L	111795234	0.529000	0.26322	0.766000	0.31476	0.206000	0.24218	0.364000	0.20325	0.436000	0.26393	-0.136000	0.14681	GAG		0.443	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111693893	111693893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111693893C>A	ENST00000358835.3	-	14	6119	c.5665G>T	c.(5665-5667)Gaa>Taa	p.E1889*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.E1889*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.E1889*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.E1811*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1889	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.E1811*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCCATAATTTCTTCCCTACTT	0.433								DNA polymerases (catalytic subunits)																													p.E1889X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5665T	6						.						147.0	155.0	152.0					6																	111693893		2203	4300	6503	111800586	SO:0001587	stop_gained	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5665G>T	6.37:g.111693893C>A	ENSP00000351697:p.Glu1889*		111800586	NM_002912	O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	50	16.963013	0.99876	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	6.03	6.03	0.97812	.	0.279939	0.38326	N	0.001734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.2869	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	1889;1889;1889;1811	.	ENSP00000351697:E1889X	E	-	1	0	REV3L	111800586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.861000	0.98227	0.655000	0.94253	GAA		0.433	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111695024	111695024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111695024G>A	ENST00000358835.3	-	14	4988	c.4534C>T	c.(4534-4536)Cga>Tga	p.R1512*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.R1512*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R1512*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.R1434*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1512					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1434*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GACACATTTCGATTTTTACAC	0.353								DNA polymerases (catalytic subunits)																													p.R1512X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4534T	6						.						171.0	166.0	168.0					6																	111695024		2203	4300	6503	111801717	SO:0001587	stop_gained	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4534C>T	6.37:g.111695024G>A	ENSP00000351697:p.Arg1512*		111801717	NM_002912	O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	48	14.507187	0.99798	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	6.04	5.17	0.71159	.	0.635768	0.13924	N	0.353398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3473	8.1816	0.31313	0.0723:0.0:0.5815:0.3462	.	.	.	.	X	1512;1512;1512;1434	.	ENSP00000351697:R1512X	R	-	1	2	REV3L	111801717	0.997000	0.39634	0.983000	0.44433	0.942000	0.58702	2.717000	0.47227	1.559000	0.49555	0.563000	0.77884	CGA		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111695977	111695977	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111695977C>T	ENST00000358835.3	-	14	4035	c.3581G>A	c.(3580-3582)cGa>cAa	p.R1194Q	REV3L_ENST00000368802.3_Missense_Mutation_p.R1194Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1194Q|REV3L_ENST00000435970.1_Missense_Mutation_p.R1116Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1194					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1116Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGTCTGATTTCGTTTGTTCCT	0.338								DNA polymerases (catalytic subunits)																													p.R1194Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3581A	6						.						90.0	89.0	89.0					6																	111695977		2203	4300	6503	111802670	SO:0001583	missense	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3581G>A	6.37:g.111695977C>T	ENSP00000351697:p.Arg1194Gln		111802670	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848445	0.32699	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01474	4.94;4.94;4.94;4.85	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.581231	0.16598	N	0.207462	T	0.00666	0.0022	L	0.44542	1.39	0.29515	N	0.853917	P	0.44006	0.824	B	0.30105	0.111	T	0.52704	-0.8540	10	0.36615	T	0.2	.	9.0681	0.36475	0.1571:0.7674:0.0:0.0755	.	1194	O60673	DPOLZ_HUMAN	Q	1194;1194;1194;1116	ENSP00000357792:R1194Q;ENSP00000357795:R1194Q;ENSP00000351697:R1194Q;ENSP00000402003:R1116Q	ENSP00000351697:R1194Q	R	-	2	0	REV3L	111802670	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	1.623000	0.37008	2.764000	0.94973	0.655000	0.94253	CGA		0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111697683	111697683	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111697683C>A	ENST00000358835.3	-	14	2329	c.1875G>T	c.(1873-1875)atG>atT	p.M625I	REV3L_ENST00000368802.3_Missense_Mutation_p.M625I|REV3L_ENST00000368805.1_Missense_Mutation_p.M625I|REV3L_ENST00000435970.1_Missense_Mutation_p.M547I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	625					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.M547I(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGGGTATTTCATAGAATAAG	0.333								DNA polymerases (catalytic subunits)																													p.M625I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1875T	6						.						58.0	62.0	61.0					6																	111697683		2196	4296	6492	111804376	SO:0001583	missense	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1875G>T	6.37:g.111697683C>A	ENSP00000351697:p.Met625Ile		111804376	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	6.656	0.489498	0.12641	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01446	4.97;4.97;4.97;4.88	5.31	2.55	0.30701	Ribonuclease H-like (1);	2.133630	0.02441	N	0.084599	T	0.00608	0.0020	L	0.29908	0.895	0.24072	N	0.995978	B	0.02656	0.0	B	0.01281	0.0	T	0.46965	-0.9153	10	0.26408	T	0.33	-11.3494	6.3012	0.21113	0.0:0.5865:0.1285:0.285	.	625	O60673	DPOLZ_HUMAN	I	625;625;625;547	ENSP00000357792:M625I;ENSP00000357795:M625I;ENSP00000351697:M625I;ENSP00000402003:M547I	ENSP00000351697:M625I	M	-	3	0	REV3L	111804376	0.966000	0.33281	0.999000	0.59377	0.739000	0.42172	0.215000	0.17562	0.623000	0.30267	0.563000	0.77884	ATG		0.333	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111702606	111702606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111702606C>A	ENST00000358835.3	-	11	1592	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.E380*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.E380*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.E302*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	380					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.E302*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAATTGCTTCTTCATTAATA	0.338								DNA polymerases (catalytic subunits)																													p.E380X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1138T	6						.						111.0	107.0	108.0					6																	111702606		2203	4300	6503	111809299	SO:0001587	stop_gained	5980	exon10			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1138G>T	6.37:g.111702606C>A	ENSP00000351697:p.Glu380*		111809299	NM_002912	O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	45	11.598683	0.99580	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	4.85	4.85	0.62838	.	0.168624	0.40908	D	0.000988	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.3301	0.90265	0.0:1.0:0.0:0.0	.	.	.	.	X	380;380;380;302	.	ENSP00000351697:E380X	E	-	1	0	REV3L	111809299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.748000	0.74877	2.404000	0.81709	0.591000	0.81541	GAA		0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111709211	111709211	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111709211A>C	ENST00000358835.3	-	9	1394	c.940T>G	c.(940-942)Ttc>Gtc	p.F314V	REV3L_ENST00000368802.3_Missense_Mutation_p.F314V|REV3L_ENST00000368805.1_Missense_Mutation_p.F314V|REV3L_ENST00000435970.1_Missense_Mutation_p.F236V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	314					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F236V(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TACACAGAGAAATCATTCTGT	0.289								DNA polymerases (catalytic subunits)																													p.F314V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T940G	6						.						46.0	49.0	48.0					6																	111709211		2203	4295	6498	111815904	SO:0001583	missense	5980	exon8			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.940T>G	6.37:g.111709211A>C	ENSP00000351697:p.Phe314Val		111815904	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206713	0.58343	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.35	5.35	0.76521	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.59436	1.845	0.38355	D	0.944432	P	0.48407	0.91	B	0.42462	0.388	T	0.04509	-1.0946	10	0.39692	T	0.17	.	10.5319	0.44981	0.9242:0.0:0.0758:0.0	.	314	O60673	DPOLZ_HUMAN	V	314;314;314;236	ENSP00000357792:F314V;ENSP00000357795:F314V;ENSP00000351697:F314V;ENSP00000402003:F236V	ENSP00000351697:F314V	F	-	1	0	REV3L	111815904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.284000	0.72652	2.017000	0.59298	0.482000	0.46254	TTC		0.289	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
ERVFRD-1	405754	broad.mit.edu	37	6	11105315	11105315	+	Nonsense_Mutation	SNP	G	G	A	rs200815152		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:11105315G>A	ENST00000472091.1	-	2	604	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ERVFRD-1_ENST00000542862.1_Nonsense_Mutation_p.R77*|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	77					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.R77*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						GGGTCCCATCGATAGGAAATA	0.458																																					p.R77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C229T	6						.						133.0	120.0	125.0					6																	11105315		2203	4300	6503	11213301	SO:0001587	stop_gained	405754	exon2			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.229C>T	6.37:g.11105315G>A	ENSP00000420174:p.Arg77*		11213301	NM_207582		Nonsense_Mutation	SNP	ENST00000472091.1	37	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	36	5.666458	0.96745	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	.	.	.	.	.	.	.	X	77	.	ENSP00000420174:R77X	R	-	1	2	ERVFRD-1	11213301	0.834000	0.29399	0.470000	0.27216	0.472000	0.32918	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CGA		0.458	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582	
TRAF3IP2	10758	broad.mit.edu	37	6	111913115	111913115	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:111913115C>A	ENST00000340026.6	-	3	796	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.D59Y|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.D59Y|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	68	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.D68Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TGAGAAAAGTCTCCGGAGGAA	0.517																																					p.D59Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G175T	6						.						105.0	106.0	106.0					6																	111913115		2203	4300	6503	112019808	SO:0001583	missense	10758	exon2			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.202G>T	6.37:g.111913115C>A	ENSP00000345984:p.Asp68Tyr		112019808	NM_147686	B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37		.	.	.	.	.	.	.	.	.	.	C	6.770	0.510914	0.12883	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.37584	1.2;1.2;1.19	5.49	3.64	0.41730	.	0.422253	0.22976	N	0.053376	T	0.24198	0.0586	L	0.51422	1.61	0.22819	N	0.998696	P;P;P	0.51351	0.745;0.944;0.745	P;P;B	0.53006	0.522;0.715;0.303	T	0.05162	-1.0902	10	0.46703	T	0.11	-40.548	5.9042	0.18984	0.0:0.6701:0.1586:0.1713	.	68;59;59	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	Y	68;59;68;59	ENSP00000357750:D59Y;ENSP00000345984:D68Y;ENSP00000352889:D59Y	ENSP00000345984:D68Y	D	-	1	0	TRAF3IP2	112019808	0.001000	0.12720	0.123000	0.21794	0.019000	0.09904	0.740000	0.26188	1.322000	0.45245	0.511000	0.50034	GAC		0.517	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2		
FYN	2534	broad.mit.edu	37	6	112041099	112041099	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112041099G>T	ENST00000354650.3	-	4	762	c.156C>A	c.(154-156)aaC>aaA	p.N52K	FYN_ENST00000229470.5_Missense_Mutation_p.N52K|FYN_ENST00000368682.3_Missense_Mutation_p.N52K|FYN_ENST00000368678.4_Missense_Mutation_p.N52K|FYN_ENST00000538466.1_Missense_Mutation_p.N52K|FYN_ENST00000356013.2_Missense_Mutation_p.N52K|FYN_ENST00000368667.2_Missense_Mutation_p.N52K|FYN_ENST00000229471.4_Missense_Mutation_p.N52K	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	52					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N52K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTGCGTGGAAGTTGTTGTAGT	0.602																																					p.N52K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C156A	6						.						116.0	95.0	102.0					6																	112041099		2203	4300	6503	112147792	SO:0001583	missense	2534	exon4			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.156C>A	6.37:g.112041099G>T	ENSP00000346671:p.Asn52Lys		112147792	NM_002037	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465213	0.63513	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419;ENST00000518295;ENST00000523238;ENST00000524310;ENST00000523574;ENST00000462598;ENST00000518630;ENST00000523570;ENST00000484067;ENST00000521062;ENST00000487824	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74632	-0.76;-0.68;-0.83;-0.68;-0.76;-0.86;-0.83;-0.76;-0.39;0.38;1.0;1.37;1.38;1.25;1.31;1.59;0.98;0.98	5.55	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.61703	1.905	0.80722	D	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.10450	0.002;0.005;0.005	T	0.66791	-0.5834	10	0.72032	D	0.01	.	13.8129	0.63274	0.0732:0.0:0.9268:0.0	.	52;52;52	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	K	52	ENSP00000357671:N52K;ENSP00000346671:N52K;ENSP00000229471:N52K;ENSP00000357656:N52K;ENSP00000357667:N52K;ENSP00000229470:N52K;ENSP00000348295:N52K;ENSP00000440646:N52K;ENSP00000427993:N52K;ENSP00000429294:N52K;ENSP00000429866:N52K;ENSP00000428695:N52K;ENSP00000430364:N52K;ENSP00000428493:N52K;ENSP00000429992:N52K;ENSP00000429590:N52K;ENSP00000429813:N52K;ENSP00000428045:N52K	ENSP00000229470:N52K	N	-	3	2	FYN	112147792	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.651000	0.83577	2.621000	0.88768	0.561000	0.74099	AAC		0.602	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
WISP3	8838	broad.mit.edu	37	6	112390774	112390774	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112390774G>T	ENST00000368666.2	+	5	1302	c.1016G>T	c.(1015-1017)aGa>aTa	p.R339I	WISP3_ENST00000361714.1_Missense_Mutation_p.R357I|TUBE1_ENST00000604814.1_5'Flank|WISP3_ENST00000368663.3_Missense_Mutation_p.R316I|WISP3_ENST00000409166.1_Missense_Mutation_p.R115I|WISP3_ENST00000604763.1_Missense_Mutation_p.R339I|WISP3_ENST00000230529.5_Missense_Mutation_p.R339I	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	339	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.R357I(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTGTGTCAGAGAAACTGCAGA	0.348																																					p.R357I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1070T	6						.						84.0	81.0	82.0					6																	112390774		2203	4300	6503	112497467	SO:0001583	missense	8838	exon5			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.1016G>T	6.37:g.112390774G>T	ENSP00000357655:p.Arg339Ile		112497467	NM_198239	Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	CCDS5098.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951592	0.53186	.	.	ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000541491;ENST00000361714;ENST00000368663;ENST00000409166	T;T;T;T;D	0.81739	-1.27;-1.27;-1.27;-1.26;-1.53	5.33	4.34	0.51931	Cystine knot (1);Cystine knot, C-terminal (2);	0.096626	0.64402	D	0.000001	T	0.71392	0.3334	L	0.56769	1.78	0.58432	D	0.999995	P;P	0.50710	0.935;0.938	P;P	0.50314	0.505;0.637	T	0.69529	-0.5121	10	0.23302	T	0.38	-11.1563	7.1587	0.25652	0.2657:0.0:0.7343:0.0	.	357;339	O95389-2;O95389	.;WISP3_HUMAN	I	339;339;115;357;316;115	ENSP00000357655:R339I;ENSP00000230529:R339I;ENSP00000354734:R357I;ENSP00000357652:R316I;ENSP00000386467:R115I	ENSP00000230529:R339I	R	+	2	0	WISP3	112497467	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.845000	0.39279	2.506000	0.84524	0.467000	0.42956	AGA		0.348	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880	
TUBE1	51175	broad.mit.edu	37	6	112394052	112394052	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112394052G>A	ENST00000368662.5	-	10	1081	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	335					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R335W(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GGGTCTGCCCGAAGCAGCTGG	0.373																																					p.R335W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1003T	6						.						113.0	120.0	117.0					6																	112394052		2203	4300	6503	112500745	SO:0001583	missense	51175	exon10			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.1003C>T	6.37:g.112394052G>A	ENSP00000357651:p.Arg335Trp		112500745	NM_016262	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362841	0.82353	.	.	ENSG00000074935	ENST00000368662	D	0.81821	-1.54	6.06	6.06	0.98353	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.408588	0.26514	N	0.023946	T	0.80808	0.4694	L	0.46157	1.445	0.80722	D	1	D	0.53745	0.962	P	0.51453	0.67	T	0.81974	-0.0687	10	0.87932	D	0	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	335	Q9UJT0	TBE_HUMAN	W	335	ENSP00000357651:R335W	ENSP00000357651:R335W	R	-	1	2	TUBE1	112500745	1.000000	0.71417	0.241000	0.24154	0.701000	0.40568	7.636000	0.83301	2.879000	0.98667	0.650000	0.86243	CGG		0.373	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262	
TUBE1	51175	broad.mit.edu	37	6	112397237	112397237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112397237G>T	ENST00000368662.5	-	8	793	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	239					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L239M(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	GAAGTAACCAGACTCTTTGGC	0.398																																					p.L239M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C715A	6						.						160.0	173.0	168.0					6																	112397237		2203	4300	6503	112503930	SO:0001583	missense	51175	exon8			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.715C>A	6.37:g.112397237G>T	ENSP00000357651:p.Leu239Met		112503930	NM_016262	Q5H8W8|Q8NEG3	Missense_Mutation	SNP	ENST00000368662.5	37	CCDS5100.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931165	0.52866	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191	T	0.78816	-1.21	5.92	4.09	0.47781	Tubulin/FtsZ, GTPase domain (3);	0.125198	0.53938	D	0.000046	T	0.49287	0.1548	N	0.08118	0	0.80722	D	1	P	0.51240	0.943	P	0.46718	0.525	T	0.61372	-0.7076	10	0.62326	D	0.03	.	7.828	0.29326	0.2829:0.0:0.7171:0.0	.	239	Q9UJT0	TBE_HUMAN	M	195;239;195	ENSP00000357651:L239M	ENSP00000357647:L195M	L	-	1	2	TUBE1	112503930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.576000	0.36504	1.434000	0.47414	0.650000	0.86243	CTG		0.398	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041867.1	NM_016262	
LAMA4	3910	broad.mit.edu	37	6	112457365	112457365	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112457365G>A	ENST00000230538.7	-	25	3771	c.3374C>T	c.(3373-3375)aCg>aTg	p.T1125M	LAMA4_ENST00000424408.2_Missense_Mutation_p.T1118M|LAMA4_ENST00000522006.1_Missense_Mutation_p.T1118M|LAMA4_ENST00000389463.4_Missense_Mutation_p.T1118M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1125	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.T1118M(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTTAACGTATCTTCAAG	0.363																																					p.T1118M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3353T	6						.						137.0	122.0	127.0					6																	112457365		2203	4300	6503	112564058	SO:0001583	missense	3910	exon25				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3374C>T	6.37:g.112457365G>A	ENSP00000230538:p.Thr1125Met		112564058	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	g	17.31	3.357414	0.61293	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.93	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.202649	0.51477	N	0.000086	T	0.70745	0.3259	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60886	0.88;0.809	T	0.80106	-0.1521	10	0.59425	D	0.04	.	15.3825	0.74669	0.0666:0.0:0.9334:0.0	.	1125;1118	Q16363;Q16363-2	LAMA4_HUMAN;.	M	1125;1118;1118;1118	ENSP00000230538:T1125M;ENSP00000429488:T1118M;ENSP00000374114:T1118M;ENSP00000416470:T1118M	ENSP00000230538:T1125M	T	-	2	0	LAMA4	112564058	1.000000	0.71417	0.896000	0.35187	0.415000	0.31203	5.135000	0.64777	1.527000	0.49086	-0.119000	0.15052	ACG		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112480078	112480078	+	Missense_Mutation	SNP	G	G	A	rs137893207		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112480078G>A	ENST00000230538.7	-	14	2070	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0				p.A551V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1652T	6						.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	95.0	86.0	89.0		1673,1652,1652	5.7	1.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	558/1824,551/1817,551/1817	112480078	2,13002	2202	4300	6502	112586771	SO:0001583	missense	3910	exon14				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1673C>T	6.37:g.112480078G>A	ENSP00000230538:p.Ala558Val		112586771	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.996	0.754395	0.15778	0.0	2.33E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12672	2.68;2.66;2.66;2.66	5.68	5.68	0.88126	.	0.251709	0.39210	N	0.001423	T	0.02610	0.0079	N	0.12182	0.205	0.80722	D	1	B;B	0.27971	0.123;0.196	B;B	0.19148	0.008;0.024	T	0.17653	-1.0362	10	0.05959	T	0.93	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	558;551	Q16363;Q16363-2	LAMA4_HUMAN;.	V	558;551;551;551	ENSP00000230538:A558V;ENSP00000429488:A551V;ENSP00000374114:A551V;ENSP00000416470:A551V	ENSP00000230538:A558V	A	-	2	0	LAMA4	112586771	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.197000	0.42696	2.668000	0.90789	0.591000	0.81541	GCG		0.303	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
NEDD9	4739	broad.mit.edu	37	6	11213906	11213906	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:11213906C>T	ENST00000379446.5	-	2	233	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NEDD9_ENST00000504387.1_Missense_Mutation_p.A23T|RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Missense_Mutation_p.A23T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	23	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A23T(2)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGCGAAAGGCCAGTTCCTCG	0.527																																					p.A23T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G67A	6						.						117.0	102.0	107.0					6																	11213906		2203	4300	6503	11321892	SO:0001583	missense	4739	exon2			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.67G>A	6.37:g.11213906C>T	ENSP00000368759:p.Ala23Thr		11321892	NM_006403	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039356	0.75617	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433;ENST00000513989;ENST00000397378	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.17	6.17	0.99709	Src homology-3 domain (4);	0.047700	0.85682	D	0.000000	T	0.15565	0.0375	N	0.03903	-0.33	0.80722	D	1	P;D;D	0.76494	0.725;0.999;0.999	P;D;D	0.85130	0.544;0.997;0.981	T	0.37033	-0.9723	10	0.37606	T	0.19	-34.0678	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	23;23;23	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	T	23;23;23;17;23	ENSP00000368759:A23T;ENSP00000422871:A23T;ENSP00000368745:A23T;ENSP00000421282:A17T;ENSP00000380534:A23T	ENSP00000368745:A23T	A	-	1	0	NEDD9	11321892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.596000	0.67570	2.941000	0.99782	0.655000	0.94253	GCC		0.527	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403	
RFPL4B	442247	broad.mit.edu	37	6	112671465	112671465	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:112671465G>T	ENST00000441065.2	+	3	867	c.555G>T	c.(553-555)aaG>aaT	p.K185N	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	185	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.K185N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TCAGCATGAAGGCAGGAGCAA	0.532																																					p.K185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G555T	6						.						73.0	72.0	73.0					6																	112671465		2203	4300	6503	112778158	SO:0001583	missense	442247	exon3			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.555G>T	6.37:g.112671465G>T	ENSP00000423391:p.Lys185Asn		112778158	NM_001013734	A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615629	0.28801	.	.	ENSG00000251258	ENST00000441065	T	0.61040	0.14	4.38	0.242	0.15498	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.214318	0.23545	N	0.047037	T	0.23410	0.0566	L	0.45470	1.425	0.09310	N	1	B	0.22541	0.071	B	0.29663	0.105	T	0.25606	-1.0127	10	0.28530	T	0.3	.	4.3258	0.11039	0.2711:0.0:0.537:0.1919	.	185	Q6ZWI9	RFPLB_HUMAN	N	185	ENSP00000423391:K185N	ENSP00000423391:K185N	K	+	3	2	RFPL4B	112778158	0.000000	0.05858	0.001000	0.08648	0.228000	0.25075	0.581000	0.23819	0.012000	0.14892	0.655000	0.94253	AAG		0.532	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734	
HS3ST5	222537	broad.mit.edu	37	6	114378562	114378562	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:114378562G>A	ENST00000312719.5	-	5	2088	c.900C>T	c.(898-900)atC>atT	p.I300I	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I300I			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	300					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.I300I(3)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ACTTATTAAAGATAATATTAA	0.418																																					p.I300I												.	.	3	Substitution - coding silent(3)	large_intestine(1)|lung(1)|endometrium(1)	c.C900T	6						.						61.0	66.0	64.0					6																	114378562		2203	4300	6503	114485255	SO:0001819	synonymous_variant	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.900C>T	6.37:g.114378562G>A			114485255	NM_153612	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																				0.418	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
HS3ST5	222537	broad.mit.edu	37	6	114378706	114378706	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:114378706G>T	ENST00000312719.5	-	5	1944	c.756C>A	c.(754-756)gtC>gtA	p.V252V	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.V252V			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	252					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.V252V(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTCCATCGACGACATGAAATT	0.423																																					p.V252V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756A	6						.						171.0	165.0	167.0					6																	114378706		2203	4300	6503	114485399	SO:0001819	synonymous_variant	222537	exon2			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.756C>A	6.37:g.114378706G>T			114485399	NM_153612	A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	CCDS34517.1																																																																																				0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612	
TMEM170B	100113407	broad.mit.edu	37	6	11565900	11565900	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:11565900G>T	ENST00000379426.1	+	2	99	c.99G>T	c.(97-99)gaG>gaT	p.E33D	TMEM170B_ENST00000543875.1_Splice_Site_p.E33D	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	33						integral component of membrane (GO:0016021)		p.E33D(1)		large_intestine(3)|lung(5)	8						TCCTTTCAGAGATGTGGTACT	0.423																																					p.E33D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	6						.						299.0	278.0	285.0					6																	11565900		1947	4141	6088	11673886	SO:0001630	splice_region_variant	100113407	exon2				CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.98-1G>T	6.37:g.11565900G>T			11673886	NM_001100829		Missense_Mutation	SNP	ENST00000379426.1	37	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418924	0.62622	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.54	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	L	0.49350	1.555	0.54753	D	0.999981	P	0.42409	0.779	B	0.43623	0.425	T	0.49670	-0.8915	9	0.54805	T	0.06	.	10.7759	0.46350	0.1717:0.0:0.8283:0.0	.	33	Q5T4T1	T170B_HUMAN	D	33	.	ENSP00000368737:E33D	E	+	3	2	TMEM170B	11673886	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.776000	0.68924	2.608000	0.88229	0.558000	0.71614	GAG		0.423	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829	Missense_Mutation
TSPYL1	7259	broad.mit.edu	37	6	116600075	116600075	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116600075A>C	ENST00000368608.3	-	1	991	c.919T>G	c.(919-921)Tta>Gta	p.L307V	DSE_ENST00000540275.1_Intron|RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	307					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L307V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTCACCTCTAAATTGGTTATG	0.453																																					p.L307V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T919G	6						.						118.0	124.0	122.0					6																	116600075		2203	4300	6503	116706768	SO:0001583	missense	7259	exon1			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.919T>G	6.37:g.116600075A>C	ENSP00000357597:p.Leu307Val		116706768	NM_003309	O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379147	0.61735	.	.	ENSG00000189241	ENST00000368608	T	0.33216	1.42	4.27	-0.422	0.12329	.	0.000000	0.28659	N	0.014571	T	0.25382	0.0617	L	0.41906	1.305	0.44946	D	0.997968	D	0.89917	1.0	D	0.87578	0.998	T	0.06917	-1.0800	10	0.42905	T	0.14	-3.741	7.2473	0.26129	0.4826:0.0:0.5174:0.0	.	307	Q9H0U9	TSYL1_HUMAN	V	307	ENSP00000357597:L307V	ENSP00000357597:L307V	L	-	1	2	TSPYL1	116706768	0.923000	0.31300	0.988000	0.46212	0.989000	0.77384	0.138000	0.16016	-0.058000	0.13177	0.379000	0.24179	TTA		0.453	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1		
TMEM170B	100113407	broad.mit.edu	37	6	11575717	11575717	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:11575717G>A	ENST00000379426.1	+	3	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	TMEM170B_ENST00000543875.1_Missense_Mutation_p.E108K	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	108						integral component of membrane (GO:0016021)		p.E108K(1)		large_intestine(3)|lung(5)	8						GGCCCCTTTGGAAGCGCTGGT	0.473																																					p.E108K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	6						.						186.0	181.0	183.0					6																	11575717		1955	4145	6100	11683703	SO:0001583	missense	100113407	exon3				CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.322G>A	6.37:g.11575717G>A	ENSP00000368737:p.Glu108Lys		11683703	NM_001100829		Missense_Mutation	SNP	ENST00000379426.1	37	CCDS43425.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504658	0.85176	.	.	ENSG00000205269	ENST00000543875;ENST00000379426	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.61800	0.894	T	0.62459	-0.6850	9	0.33141	T	0.24	-37.3358	19.0673	0.93116	0.0:0.0:1.0:0.0	.	108	Q5T4T1	T170B_HUMAN	K	108	.	ENSP00000368737:E108K	E	+	1	0	TMEM170B	11683703	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.466000	0.97665	2.502000	0.84385	0.579000	0.79373	GAA		0.473	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829	
DSE	29940	broad.mit.edu	37	6	116720488	116720488	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116720488C>T	ENST00000331677.3	+	3	519	c.75C>T	c.(73-75)acC>acT	p.T25T	DSE_ENST00000359564.2_Silent_p.T25T|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.T44T|DSE_ENST00000452085.3_Silent_p.T25T			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	25			T -> I (in dbSNP:rs10485183).		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.T25T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTACATCACCGACGAGAACC	0.512																																					p.T25T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	6						.						89.0	78.0	81.0					6																	116720488		2203	4300	6503	116827181	SO:0001819	synonymous_variant	29940	exon2			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.75C>T	6.37:g.116720488C>T			116827181	NM_001080976	Q5R3K6	Silent	SNP	ENST00000331677.3	37	CCDS5107.1																																																																																				0.512	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
DSE	29940	broad.mit.edu	37	6	116747871	116747871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116747871C>A	ENST00000331677.3	+	4	995	c.551C>A	c.(550-552)gCc>gAc	p.A184D	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.A184D|DSE_ENST00000537543.1_Missense_Mutation_p.A203D|DSE_ENST00000452085.3_Missense_Mutation_p.A184D			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	184					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)	p.A184D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATTGCCAATGCCTCAGGGTAT	0.463																																					p.A184D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551A	6						.						112.0	100.0	104.0					6																	116747871		2203	4300	6503	116854564	SO:0001583	missense	29940	exon3			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.551C>A	6.37:g.116747871C>A	ENSP00000332151:p.Ala184Asp		116854564	NM_001080976	Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686356	0.68157	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	6.06	4.23	0.50019	.	0.154369	0.64402	D	0.000018	T	0.21674	0.0522	L	0.59436	1.845	0.58432	D	0.999999	P;P	0.43231	0.801;0.693	P;B	0.49332	0.607;0.354	T	0.01225	-1.1413	9	.	.	.	-11.8466	12.1131	0.53850	0.0:0.8577:0.0:0.1423	.	203;184	B7Z765;Q9UL01	.;DSE_HUMAN	D	184;203;184;184	ENSP00000404049:A184D;ENSP00000441152:A203D;ENSP00000332151:A184D;ENSP00000352567:A184D	.	A	+	2	0	DSE	116854564	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.128000	0.42045	0.838000	0.34948	0.655000	0.94253	GCC		0.463	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
FAM26F	441168	broad.mit.edu	37	6	116784651	116784651	+	Missense_Mutation	SNP	C	C	T	rs557482432		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116784651C>T	ENST00000368605.1	+	3	826	c.731C>T	c.(730-732)tCg>tTg	p.S244L	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.S72L	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	244					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.S244L(1)		large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TTTGAGGGCTCGCATCCAAAA	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0				p.S244L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C731T	6						.						124.0	126.0	125.0					6																	116784651		2203	4300	6503	116891344	SO:0001583	missense	441168	exon3			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 187"""	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.731C>T	6.37:g.116784651C>T	ENSP00000357594:p.Ser244Leu		116891344	NM_001010919	B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673276	0.29693	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.17370	2.28;2.28;2.28	5.11	-0.172	0.13327	.	0.709020	0.12631	N	0.452187	T	0.04003	0.0112	L	0.47716	1.5	0.09310	N	1	B	0.28667	0.219	B	0.21360	0.034	T	0.37314	-0.9711	10	0.38643	T	0.18	-4.0028	5.1432	0.14971	0.2869:0.5098:0.0:0.2033	.	244	Q5R3K3	FA26F_HUMAN	L	72;244;87	ENSP00000357595:S72L;ENSP00000357594:S244L;ENSP00000357593:S87L	ENSP00000357593:S87L	S	+	2	0	FAM26F	116891344	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.767000	0.26575	-0.255000	0.09486	-0.897000	0.02905	TCG		0.398	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919	
RWDD1	51389	broad.mit.edu	37	6	116892815	116892815	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116892815A>G	ENST00000466444.2	+	1	286	c.70A>G	c.(70-72)Aca>Gca	p.T24A	RWDD1_ENST00000487832.2_5'UTR|RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000517800.1_3'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	24	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.T24A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TGACTCCTTCACAGGTGACTC	0.647																																					p.T24A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A70G	6						.						40.0	32.0	34.0					6																	116892815		2203	4299	6502	116999508	SO:0001583	missense	51389	exon1			AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.70A>G	6.37:g.116892815A>G	ENSP00000420357:p.Thr24Ala		116999508	NM_015952	A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738477	0.69304	.	.	ENSG00000111832	ENST00000466444	T	0.40756	1.02	5.88	5.88	0.94601	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.38268	0.1034	M	0.77313	2.365	0.80722	D	1	B	0.17852	0.024	B	0.36666	0.23	T	0.35674	-0.9779	10	0.27082	T	0.32	-0.4468	13.8241	0.63340	1.0:0.0:0.0:0.0	.	24	Q9H446	RWDD1_HUMAN	A	24	ENSP00000420357:T24A	ENSP00000420357:T24A	T	+	1	0	RWDD1	116999508	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.107000	0.64603	2.246000	0.74042	0.533000	0.62120	ACA		0.647	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	NM_015952	
RSPH4A	345895	broad.mit.edu	37	6	116938122	116938122	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116938122G>T	ENST00000229554.5	+	1	473	c.336G>T	c.(334-336)agG>agT	p.R112S	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R112S|RSPH4A_ENST00000368580.4_Missense_Mutation_p.R112S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	112					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.R112S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCGGACAGGACCACGAGTG	0.552									Kartagener syndrome																												p.R112S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	6						.						64.0	66.0	65.0					6																	116938122		2203	4300	6503	117044815	SO:0001583	missense	345895	exon1	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.336G>T	6.37:g.116938122G>T	ENSP00000229554:p.Arg112Ser		117044815	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996477	0.35226	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.66638	-0.22;1.43;1.35	5.53	2.68	0.31781	.	0.530412	0.18057	N	0.153078	T	0.23532	0.0569	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.002	T	0.17961	-1.0352	10	0.26408	T	0.33	-7.0196	5.0845	0.14675	0.19:0.1692:0.6407:0.0	.	112;112	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	S	112	ENSP00000357570:R112S;ENSP00000229554:R112S;ENSP00000357569:R112S	ENSP00000229554:R112S	R	+	3	2	RSPH4A	117044815	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.699000	0.25586	0.389000	0.25086	0.655000	0.94253	AGG		0.552	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
RSPH4A	345895	broad.mit.edu	37	6	116949371	116949371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:116949371G>T	ENST00000229554.5	+	3	1638	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G501*|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	501					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.G501*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTCCTCTAGGATTTTATCA	0.463									Kartagener syndrome																												p.G501X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1501T	6						.						65.0	68.0	67.0					6																	116949371		2203	4300	6503	117056064	SO:0001587	stop_gained	345895	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1501G>T	6.37:g.116949371G>T	ENSP00000229554:p.Gly501*		117056064	NM_001161664	B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	38	7.195125	0.98129	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.74	5.74	0.90152	.	0.100592	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.7375	17.4199	0.87512	0.0:0.0:1.0:0.0	.	.	.	.	X	501;501;296	.	ENSP00000229554:G501X	G	+	1	0	RSPH4A	117056064	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.273000	0.95719	2.707000	0.92482	0.655000	0.94253	GGA		0.463	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892	
KPNA5	3841	broad.mit.edu	37	6	117023265	117023265	+	Silent	SNP	G	G	A	rs374140887		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117023265G>A	ENST00000368564.1	+	6	667	c.519G>A	c.(517-519)ccG>ccA	p.P173P	KPNA5_ENST00000356348.1_Silent_p.P173P			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	170	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.P173P(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGGCTGTTCCGATTTTTATCA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		17552	0.001		0.0	False		,,,				2504	0.0				p.P173P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	6						.						109.0	109.0	109.0					6																	117023265		2203	4300	6503	117129958	SO:0001819	synonymous_variant	3841	exon6			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.519G>A	6.37:g.117023265G>A			117129958	NM_002269	B2RAI5|Q86X23	Silent	SNP	ENST00000368564.1	37	CCDS5111.1																																																																																				0.348	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
GPRC6A	222545	broad.mit.edu	37	6	117130538	117130538	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117130538G>T	ENST00000310357.3	-	2	458	c.437C>A	c.(436-438)tCt>tAt	p.S146Y	GPRC6A_ENST00000530250.1_Missense_Mutation_p.S146Y|GPRC6A_ENST00000368549.3_Missense_Mutation_p.S146Y	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	146					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S146Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAGTACCCAGAACCTATGAC	0.423																																					p.S146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437A	6						.						90.0	87.0	88.0					6																	117130538		2203	4300	6503	117237231	SO:0001583	missense	222545	exon2			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.437C>A	6.37:g.117130538G>T	ENSP00000309493:p.Ser146Tyr		117237231	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551354	0.65311	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.83250	-1.7;-1.7;-1.7	4.86	4.86	0.63082	Extracellular ligand-binding receptor (1);	0.236875	0.32287	N	0.006305	T	0.65091	0.2658	N	0.24115	0.695	0.27806	N	0.94231	P;P;P	0.46277	0.875;0.683;0.754	B;B;B	0.43445	0.309;0.243;0.42	T	0.65504	-0.6152	10	0.59425	D	0.04	.	13.1878	0.59691	0.0:0.0:0.8407:0.1593	.	146;146;146	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	Y	146	ENSP00000309493:S146Y;ENSP00000357537:S146Y;ENSP00000433465:S146Y	ENSP00000309493:S146Y	S	-	2	0	GPRC6A	117237231	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	4.511000	0.60462	2.531000	0.85337	0.585000	0.79938	TCT		0.423	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
GPRC6A	222545	broad.mit.edu	37	6	117150134	117150134	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117150134G>T	ENST00000310357.3	-	1	64	c.43C>A	c.(43-45)Ctt>Att	p.L15I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L15I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.L15I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	15					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L15I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAAGTAGCAAGAATAATCACA	0.393																																					p.L15I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C43A	6						.						100.0	102.0	101.0					6																	117150134		2203	4300	6503	117256827	SO:0001583	missense	222545	exon1			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.43C>A	6.37:g.117150134G>T	ENSP00000309493:p.Leu15Ile		117256827	NM_148963	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998213	0.35226	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.91011	-2.55;-2.77;-2.76	5.18	-0.128	0.13506	.	0.934464	0.09040	N	0.857425	T	0.60117	0.2244	N	0.08118	0	0.09310	N	1	P;P;B	0.38078	0.617;0.51;0.376	B;B;B	0.37144	0.242;0.154;0.141	T	0.58719	-0.7587	10	0.21014	T	0.42	.	4.9839	0.14180	0.5774:0.0:0.2641:0.1585	.	15;15;15	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	15	ENSP00000309493:L15I;ENSP00000357537:L15I;ENSP00000433465:L15I	ENSP00000309493:L15I	L	-	1	0	GPRC6A	117256827	0.969000	0.33509	0.918000	0.36340	0.895000	0.52256	0.658000	0.24979	0.062000	0.16340	-0.136000	0.14681	CTT		0.393	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
RFX6	222546	broad.mit.edu	37	6	117232115	117232115	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117232115A>C	ENST00000332958.2	+	7	706	c.690A>C	c.(688-690)aaA>aaC	p.K230N	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	230					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.K230N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCACTCGTAAATATTCGCTTA	0.343																																					p.K230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A690C	6						.						97.0	101.0	100.0					6																	117232115		2203	4300	6503	117338808	SO:0001583	missense	222546	exon7			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.690A>C	6.37:g.117232115A>C	ENSP00000332208:p.Lys230Asn		117338808	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054176	0.75960	.	.	ENSG00000185002	ENST00000332958	T	0.57752	0.38	5.77	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.44542	1.39	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.54536	-0.8279	10	0.45353	T	0.12	-24.8661	11.8778	0.52558	0.9317:0.0:0.0683:0.0	.	230	Q8HWS3	RFX6_HUMAN	N	230	ENSP00000332208:K230N	ENSP00000332208:K230N	K	+	3	2	RFX6	117338808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.179000	0.58290	1.114000	0.41781	0.533000	0.62120	AAA		0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX6	222546	broad.mit.edu	37	6	117250120	117250120	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117250120G>A	ENST00000332958.2	+	18	2613	c.2597G>A	c.(2596-2598)cGa>cAa	p.R866Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	866					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R866Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTGCATGTCGAACTCCAGTC	0.403																																					p.R866Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2597A	6						.						112.0	99.0	103.0					6																	117250120		2203	4300	6503	117356813	SO:0001583	missense	222546	exon18			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2597G>A	6.37:g.117250120G>A	ENSP00000332208:p.Arg866Gln		117356813	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583543	0.65992	.	.	ENSG00000185002	ENST00000332958	T	0.56776	0.44	5.63	5.63	0.86233	.	0.406919	0.25762	N	0.028472	T	0.28333	0.0700	L	0.29908	0.895	0.46478	D	0.999069	B	0.33135	0.399	B	0.16289	0.015	T	0.10474	-1.0628	10	0.41790	T	0.15	-17.6006	20.0442	0.97604	0.0:0.0:1.0:0.0	.	866	Q8HWS3	RFX6_HUMAN	Q	866	ENSP00000332208:R866Q	ENSP00000332208:R866Q	R	+	2	0	RFX6	117356813	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	4.649000	0.61433	2.814000	0.96858	0.655000	0.94253	CGA		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
ROS1	6098	broad.mit.edu	37	6	117629975	117629975	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117629975C>A	ENST00000368508.3	-	41	6749	c.6551G>T	c.(6550-6552)aGa>aTa	p.R2184I	ROS1_ENST00000368507.3_Missense_Mutation_p.R2178I	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R2184I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGACAATTTCTTGGTGGCTC	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.R2184I			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6551T	6						.						91.0	85.0	87.0					6																	117629975		2203	4300	6503	117736668	SO:0001583	missense	6098	exon41			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6551G>T	6.37:g.117629975C>A	ENSP00000357494:p.Arg2184Ile		117736668	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451709	0.43531	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83075	-1.68;-1.68	5.05	2.09	0.27110	.	0.380247	0.25358	N	0.031246	T	0.55000	0.1893	N	0.16307	0.4	0.25383	N	0.988597	P	0.46142	0.873	P	0.49192	0.602	T	0.52815	-0.8525	10	0.34782	T	0.22	.	1.664	0.02798	0.1443:0.4507:0.141:0.2639	.	2184	P08922	ROS1_HUMAN	I	2184;2178	ENSP00000357494:R2184I;ENSP00000357493:R2178I	ENSP00000357493:R2178I	R	-	2	0	ROS1	117736668	0.001000	0.12720	1.000000	0.80357	0.990000	0.78478	1.002000	0.29796	0.626000	0.30322	0.650000	0.86243	AGA		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117658398	117658398	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117658398C>A	ENST00000368508.3	-	31	5383	c.5185G>T	c.(5185-5187)Gta>Tta	p.V1729L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1723L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1729	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1729L(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCACCACTACTCTGACATTA	0.358			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.V1729L			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5185T	6						.						131.0	127.0	128.0					6																	117658398		2203	4299	6502	117765091	SO:0001583	missense	6098	exon31			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5185G>T	6.37:g.117658398C>A	ENSP00000357494:p.Val1729Leu		117765091	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975894	0.18736	.	.	ENSG00000047936	ENST00000368508;ENST00000368507;ENST00000403284	T;T;T	0.72282	-0.64;-0.64;-0.18	4.6	3.73	0.42828	.	0.341802	0.24901	N	0.034690	T	0.42426	0.1202	L	0.32530	0.975	0.80722	D	1	P	0.36412	0.552	B	0.42462	0.388	T	0.39231	-0.9624	10	0.08837	T	0.75	.	9.2176	0.37358	0.0:0.8963:0.0:0.1037	.	1729	P08922	ROS1_HUMAN	L	1729;1723;36	ENSP00000357494:V1729L;ENSP00000357493:V1723L;ENSP00000384647:V36L	ENSP00000357493:V1723L	V	-	1	0	ROS1	117765091	0.409000	0.25368	0.686000	0.30086	0.911000	0.54048	1.280000	0.33202	1.256000	0.44068	0.655000	0.94253	GTA		0.358	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117663577	117663577	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117663577T>G	ENST00000368508.3	-	28	4853	c.4655A>C	c.(4654-4656)aAa>aCa	p.K1552T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1546T	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1552	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1552T(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTTTTAGTTTTTCCCCAAAT	0.318			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.K1552T			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4655C	6						.						127.0	136.0	133.0					6																	117663577		2202	4300	6502	117770270	SO:0001583	missense	6098	exon28			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4655A>C	6.37:g.117663577T>G	ENSP00000357494:p.Lys1552Thr		117770270	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	9.180	1.023334	0.19433	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.51071	0.72;0.72	5.32	2.7	0.31948	.	0.274767	0.30695	N	0.009062	T	0.11537	0.0281	N	0.11560	0.145	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.06006	-1.0851	10	0.24483	T	0.36	.	9.2525	0.37564	0.0:0.0:0.3549:0.6451	.	1552	P08922	ROS1_HUMAN	T	1552;1546	ENSP00000357494:K1552T;ENSP00000357493:K1546T	ENSP00000357493:K1546T	K	-	2	0	ROS1	117770270	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	0.509000	0.22707	0.947000	0.37659	0.459000	0.35465	AAA		0.318	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117681131	117681131	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117681131C>A	ENST00000368508.3	-	23	3687	c.3489G>T	c.(3487-3489)aaG>aaT	p.K1163N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1158N	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1163					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1163N(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAAAAACTATCTTGTTACCAA	0.358			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.K1163N			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3489T	6						.						89.0	86.0	87.0					6																	117681131		2203	4300	6503	117787824	SO:0001583	missense	6098	exon23			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3489G>T	6.37:g.117681131C>A	ENSP00000357494:p.Lys1163Asn		117787824	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310009	0.23821	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91180	-2.8;-2.8	4.62	3.74	0.42951	.	0.195708	0.35555	N	0.003131	D	0.82632	0.5079	L	0.51422	1.61	0.80722	D	1	P	0.37781	0.608	B	0.37943	0.261	T	0.83299	-0.0029	10	0.48119	T	0.1	.	12.8997	0.58119	0.0:0.8362:0.1638:0.0	.	1163	P08922	ROS1_HUMAN	N	1163;1158	ENSP00000357494:K1163N;ENSP00000357493:K1158N	ENSP00000357493:K1158N	K	-	3	2	ROS1	117787824	0.993000	0.37304	0.846000	0.33378	0.276000	0.26787	0.643000	0.24750	1.235000	0.43724	0.655000	0.94253	AAG		0.358	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ADTRP	84830	broad.mit.edu	37	6	11735842	11735842	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:11735842T>C	ENST00000414691.3	-	4	875	c.465A>G	c.(463-465)ggA>ggG	p.G155G	ADTRP_ENST00000229583.5_Silent_p.G173G|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Silent_p.G155G	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G155G(1)									GCAAGGTGAGTCCTGTCTTCT	0.483																																					p.G173G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A519G	6						.						85.0	76.0	79.0					6																	11735842		2203	4300	6503	11843828	SO:0001819	synonymous_variant	84830	exon5			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.465A>G	6.37:g.11735842T>C			11843828	NM_001143948	B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	37	CCDS4521.1																																																																																				0.483	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744	
GOPC	57120	broad.mit.edu	37	6	117896422	117896422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:117896422G>A	ENST00000368498.2	-	4	643	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	GOPC_ENST00000467125.1_5'Flank|GOPC_ENST00000535237.1_Missense_Mutation_p.R190C|GOPC_ENST00000052569.6_Missense_Mutation_p.R182C	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	190					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)	p.R190C(1)	GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ATATGTCTACGAAGGGCTTCA	0.408			O	ROS1	glioblastoma																																p.R190C			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568T	6						.						140.0	122.0	128.0					6																	117896422		2203	4300	6503	118003115	SO:0001583	missense	57120	exon4			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.568C>T	6.37:g.117896422G>A	ENSP00000357484:p.Arg190Cys		118003115	NM_020399	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570760	0.86542	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	D;T;T	0.84730	-1.89;2.04;0.74	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	D	0.90890	0.4760	10	0.72032	D	0.01	-20.0627	16.0078	0.80374	0.0:0.0:0.8651:0.1349	.	182;190	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	C	182;190;190	ENSP00000052569:R182C;ENSP00000357484:R190C;ENSP00000445690:R190C	ENSP00000052569:R182C	R	-	1	0	GOPC	118003115	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.001000	0.88508	2.660000	0.90430	0.591000	0.81541	CGT		0.408	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	
SLC35F1	222553	broad.mit.edu	37	6	118475625	118475625	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:118475625T>C	ENST00000360388.4	+	2	392	c.191T>C	c.(190-192)gTg>gCg	p.V64A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	64					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.V64A(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTAATCTCTGTGGCCCTAGGC	0.423																																					p.V64A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T191C	6						.						168.0	159.0	162.0					6																	118475625		2203	4300	6503	118582318	SO:0001583	missense	222553	exon2			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.191T>C	6.37:g.118475625T>C	ENSP00000353557:p.Val64Ala		118582318	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836039	0.71373	.	.	ENSG00000196376	ENST00000360388	.	.	.	6.02	6.02	0.97574	.	0.071450	0.56097	D	0.000032	T	0.52092	0.1713	L	0.49126	1.545	0.48236	D	0.999615	B	0.30914	0.3	B	0.37198	0.243	T	0.59423	-0.7457	9	0.72032	D	0.01	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	64	Q5T1Q4	S35F1_HUMAN	A	64	.	ENSP00000353557:V64A	V	+	2	0	SLC35F1	118582318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.967000	0.76079	2.311000	0.77944	0.533000	0.62120	GTG		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	
SLC35F1	222553	broad.mit.edu	37	6	118596708	118596708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:118596708C>T	ENST00000360388.4	+	5	925	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	242					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R242*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ATACATCATCCGAACTCTGAG	0.423																																					p.R242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C724T	6						.						113.0	111.0	112.0					6																	118596708		2203	4300	6503	118703401	SO:0001587	stop_gained	222553	exon5			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.724C>T	6.37:g.118596708C>T	ENSP00000353557:p.Arg242*		118703401	NM_001029858	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	37	6.554281	0.97658	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.144445	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.9102	0.63862	0.1521:0.8479:0.0:0.0	.	.	.	.	X	242	.	ENSP00000353557:R242X	R	+	1	2	SLC35F1	118703401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.769000	0.68865	2.780000	0.95670	0.655000	0.94253	CGA		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	
PLN	5350	broad.mit.edu	37	6	118880208	118880208	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:118880208C>T	ENST00000357525.5	+	2	316	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000392500.3_Intron|CEP85L_ENST00000368491.3_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	42					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)	p.L42F(1)		large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		CTTAATATGTCTCTTGCTGAT	0.413																																					p.L42F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C124T	6						.						190.0	173.0	179.0					6																	118880208		2203	4300	6503	118986901	SO:0001583	missense	5350	exon2				CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.124C>T	6.37:g.118880208C>T	ENSP00000350132:p.Leu42Phe		118986901	NM_002667		Missense_Mutation	SNP	ENST00000357525.5	37	CCDS5120.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024610	0.54683	.	.	ENSG00000198523	ENST00000357525	D	0.92149	-2.98	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	D	0.95790	0.8630	.	.	.	0.58432	D	0.999999	D	0.63880	0.993	D	0.68943	0.961	D	0.96045	0.9027	9	0.87932	D	0	-12.2407	19.1001	0.93270	0.0:1.0:0.0:0.0	.	42	P26678	PPLA_HUMAN	F	42	ENSP00000350132:L42F	ENSP00000350132:L42F	L	+	1	0	PLN	118986901	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	6.473000	0.73572	2.514000	0.84764	0.655000	0.94253	CTC		0.413	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1	NM_002667	
FAM184A	79632	broad.mit.edu	37	6	119296213	119296213	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:119296213C>T	ENST00000338891.7	-	13	3187	c.2744G>A	c.(2743-2745)cGa>cAa	p.R915Q	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.R915Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.R795Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.R795Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	915						extracellular space (GO:0005615)		p.R915Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGATTCACTTCGTATTCTGAG	0.368																																					p.R915Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2744A	6						.						153.0	133.0	139.0					6																	119296213		1854	4098	5952	119337912	SO:0001583	missense	79632	exon13			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2744G>A	6.37:g.119296213C>T	ENSP00000342604:p.Arg915Gln		119337912	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673085	0.67928	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.30182	2.32;2.34;1.55;1.54	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.72894	2.215	0.80722	D	1	D;D;D	0.64830	0.98;0.994;0.991	P;P;P	0.53593	0.467;0.73;0.576	T	0.06197	-1.0840	10	0.39692	T	0.17	-10.2862	14.7443	0.69480	0.0:0.9286:0.0:0.0714	.	915;795;915	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	78;915;795;795;915	ENSP00000342604:R915Q;ENSP00000326608:R795Q;ENSP00000357460:R795Q;ENSP00000430442:R915Q	ENSP00000342604:R915Q	R	-	2	0	FAM184A	119337912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.746000	0.68681	2.705000	0.92388	0.650000	0.86243	CGA		0.368	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119301401	119301401	+	Nonsense_Mutation	SNP	C	C	A	rs368304565		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:119301401C>A	ENST00000338891.7	-	10	2646	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E735*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E615*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E615*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	735						extracellular space (GO:0005615)		p.E735*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCTCTAATTCTTCAAGCTCT	0.428																																					p.E735X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2203T	6						.						141.0	130.0	133.0					6																	119301401		1894	4132	6026	119343100	SO:0001587	stop_gained	79632	exon10			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2203G>T	6.37:g.119301401C>A	ENSP00000342604:p.Glu735*		119343100	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	44	10.892873	0.99484	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	6.17	5.31	0.75309	.	0.100426	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-8.5402	15.5968	0.76590	0.0:0.9345:0.0:0.0655	.	.	.	.	X	735;615;615;735	.	ENSP00000342604:E735X	E	-	1	0	FAM184A	119343100	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.267000	0.78462	1.627000	0.50400	0.655000	0.94253	GAA		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119324102	119324102	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:119324102C>A	ENST00000338891.7	-	9	2493	c.2050G>T	c.(2050-2052)Gat>Tat	p.D684Y	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.D684Y|FAM184A_ENST00000368475.4_Missense_Mutation_p.D564Y|FAM184A_ENST00000352896.5_Missense_Mutation_p.D564Y	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	684						extracellular space (GO:0005615)		p.D684Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCCATGAATCTCTTGCTGCA	0.373																																					p.D684Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2050T	6						.						165.0	162.0	163.0					6																	119324102		1864	4105	5969	119365801	SO:0001583	missense	79632	exon9			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2050G>T	6.37:g.119324102C>A	ENSP00000342604:p.Asp684Tyr		119365801	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644365	0.87859	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.97	5.97	0.96955	.	0.098155	0.64402	D	0.000001	T	0.48786	0.1519	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.964;0.986	T	0.43458	-0.9390	10	0.66056	D	0.02	-15.4749	20.4238	0.99064	0.0:1.0:0.0:0.0	.	684;564;684	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Y	684;564;564;684	ENSP00000342604:D684Y;ENSP00000326608:D564Y;ENSP00000357460:D564Y;ENSP00000430442:D684Y	ENSP00000342604:D684Y	D	-	1	0	FAM184A	119365801	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.467000	0.73547	2.834000	0.97654	0.650000	0.86243	GAT		0.373	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119338090	119338090	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:119338090C>T	ENST00000338891.7	-	5	1795	c.1352G>A	c.(1351-1353)aGa>aAa	p.R451K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.R451K|FAM184A_ENST00000368475.4_Missense_Mutation_p.R331K|FAM184A_ENST00000352896.5_Missense_Mutation_p.R331K|FAM184A_ENST00000522284.1_Missense_Mutation_p.R331K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	451						extracellular space (GO:0005615)		p.R451I(1)|p.R451K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTGCTGAGTTCTCTTTGCTTC	0.328																																					p.R451K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1352A	6						.						87.0	82.0	84.0					6																	119338090		1804	4066	5870	119379789	SO:0001583	missense	79632	exon5			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1352G>A	6.37:g.119338090C>T	ENSP00000342604:p.Arg451Lys		119379789	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.867|4.867	0.161138|0.161138	0.09287|0.09287	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000448815|ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.|T;T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61;1.61	4.94|4.94	2.79|2.79	0.32731|0.32731	.|.	.|0.391115	.|0.27122	.|N	.|0.020840	T|T	0.03011|0.03011	0.0089|0.0089	N|N	0.02539|0.02539	-0.55|-0.55	0.21184|0.21184	N|N	0.999763|0.999763	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.0;0.001	T|T	0.46555|0.46555	-0.9183|-0.9183	5|10	.|0.15499	.|T	.|0.54	-5.8195|-5.8195	7.6499|7.6499	0.28342|0.28342	0.0:0.1432:0.0:0.8568|0.0:0.1432:0.0:0.8568	.|.	.|451;331;451	.|Q8NB25-2;F8W8D6;Q8NB25	.|.;.;F184A_HUMAN	K|K	37|451;331;331;451;331	.|ENSP00000342604:R451K;ENSP00000326608:R331K;ENSP00000357460:R331K;ENSP00000430442:R451K;ENSP00000429826:R331K	.|ENSP00000342604:R451K	E|R	-|-	1|2	0|0	FAM184A|FAM184A	119379789|119379789	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.896000|0.896000	0.52359|0.52359	2.652000|2.652000	0.46682|0.46682	0.344000|0.344000	0.23847|0.23847	-0.424000|-0.424000	0.05967|0.05967	GAA|AGA		0.328	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
MAN1A1	4121	broad.mit.edu	37	6	119510835	119510835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:119510835G>A	ENST00000368468.3	-	10	1981	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	514					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R514*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACATGTTCGATTATATGAT	0.453																																					p.R514X	Ovarian(136;8 1825 12608 33541 47587)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1540T	6						.						138.0	137.0	137.0					6																	119510835		2203	4300	6503	119552534	SO:0001587	stop_gained	4121	exon10			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1540C>T	6.37:g.119510835G>A	ENSP00000357453:p.Arg514*		119552534	NM_005907	E7EU32|Q6P052|Q9NU44|Q9UJI3	Nonsense_Mutation	SNP	ENST00000368468.3	37	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	38	7.201029	0.98132	.	.	ENSG00000111885	ENST00000368468	.	.	.	5.11	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2159	15.0397	0.71781	0.0:0.0:0.8567:0.1433	.	.	.	.	X	514	.	ENSP00000357453:R514X	R	-	1	2	MAN1A1	119552534	1.000000	0.71417	0.977000	0.42913	0.121000	0.20230	6.399000	0.73248	1.130000	0.42092	-0.152000	0.13540	CGA		0.453	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
TBC1D32	221322	broad.mit.edu	37	6	121412019	121412019	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121412019C>A	ENST00000398212.2	-	31	3683	c.3634G>T	c.(3634-3636)Gat>Tat	p.D1212Y	TBC1D32_ENST00000275159.6_Missense_Mutation_p.D1253Y|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1212	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.D1212Y(1)									ACTTGCAGATCTTGAGTCTGA	0.338																																					p.D1212Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3634T	6						.						135.0	129.0	131.0					6																	121412019		1847	4101	5948	121453718	SO:0001583	missense	221322	exon31			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3634G>T	6.37:g.121412019C>A	ENSP00000381270:p.Asp1212Tyr		121453718	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283027	0.80692	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.27890	1.64;1.64	5.17	5.17	0.71159	Rab-GAP/TBC domain (1);	0.052010	0.85682	D	0.000000	T	0.47358	0.1441	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.46911	-0.9157	10	0.87932	D	0	.	17.8272	0.88669	0.0:1.0:0.0:0.0	.	1212	Q96NH3	BROMI_HUMAN	Y	1253;1212	ENSP00000275159:D1253Y;ENSP00000381270:D1212Y	ENSP00000275159:D1253Y	D	-	1	0	C6orf170	121453718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.647000	0.67923	2.679000	0.91253	0.585000	0.79938	GAT		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121427278	121427278	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121427278C>T	ENST00000398212.2	-	30	3405	c.3356G>A	c.(3355-3357)gGc>gAc	p.G1119D	TBC1D32_ENST00000275159.6_Missense_Mutation_p.G1160D|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1119	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.G1119D(1)									TGGATGGATGCCAGATTCTAC	0.299																																					p.G1119D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3356A	6						.						171.0	161.0	164.0					6																	121427278		1821	4080	5901	121468977	SO:0001583	missense	221322	exon30			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3356G>A	6.37:g.121427278C>T	ENSP00000381270:p.Gly1119Asp		121468977	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765987	0.49574	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.19806	2.12;2.12	5.06	4.13	0.48395	Rab-GAP/TBC domain (1);	0.109401	0.64402	D	0.000009	T	0.30479	0.0766	L	0.59436	1.845	0.49051	D	0.999745	D	0.76494	0.999	D	0.70227	0.968	T	0.00647	-1.1628	10	0.29301	T	0.29	.	15.3958	0.74790	0.0:0.8602:0.1398:0.0	.	1119	Q96NH3	BROMI_HUMAN	D	1160;1119	ENSP00000275159:G1160D;ENSP00000381270:G1119D	ENSP00000275159:G1160D	G	-	2	0	C6orf170	121468977	1.000000	0.71417	0.997000	0.53966	0.257000	0.26127	3.684000	0.54671	2.775000	0.95449	0.650000	0.86243	GGC		0.299	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121576485	121576485	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121576485T>C	ENST00000398212.2	-	17	2056	c.2007A>G	c.(2005-2007)gaA>gaG	p.E669E	TBC1D32_ENST00000275159.6_Silent_p.E669E	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	669					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.E669E(1)									TGTTTTGGGATTCCTGGCTTA	0.279																																					p.E669E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2007G	6						.						59.0	58.0	58.0					6																	121576485		1791	4055	5846	121618184	SO:0001819	synonymous_variant	221322	exon17			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2007A>G	6.37:g.121576485T>C			121618184	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																				0.279	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121577429	121577429	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121577429G>T	ENST00000398212.2	-	16	1785	c.1736C>A	c.(1735-1737)cCt>cAt	p.P579H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.P579H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	579					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P579H(1)									AGCACCTGTAGGACTAAAAGA	0.353																																					p.P579H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1736A	6						.						32.0	29.0	30.0					6																	121577429		1818	4084	5902	121619128	SO:0001583	missense	221322	exon16			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1736C>A	6.37:g.121577429G>T	ENSP00000381270:p.Pro579His		121619128	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340614	0.24339	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.18502	2.21;2.21	5.21	0.243	0.15503	.	0.683081	0.15074	N	0.282024	T	0.08358	0.0208	L	0.54323	1.7	0.09310	N	1	P;B	0.36315	0.547;0.005	B;B	0.43331	0.416;0.011	T	0.22800	-1.0206	10	0.72032	D	0.01	-8.9712	5.6096	0.17398	0.404:0.0:0.4722:0.1238	.	579;579	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	579	ENSP00000275159:P579H;ENSP00000381270:P579H	ENSP00000275159:P579H	P	-	2	0	C6orf170	121619128	0.998000	0.40836	0.616000	0.29078	0.552000	0.35366	0.957000	0.29215	0.026000	0.15269	-0.136000	0.14681	CCT		0.353	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121624817	121624817	+	Silent	SNP	C	C	T	rs374800522		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121624817C>T	ENST00000398212.2	-	9	1075	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TBC1D32_ENST00000275159.6_Silent_p.P342P	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	342					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.P342P(2)									AAAAGTAGATCGGATCCAAAA	0.323																																					p.P342P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.G1026A	6						.						95.0	87.0	90.0					6																	121624817		1810	4074	5884	121666516	SO:0001819	synonymous_variant	221322	exon9			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1026G>A	6.37:g.121624817C>T			121666516	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																				0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121642797	121642797	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121642797C>A	ENST00000398212.2	-	2	348	c.299G>T	c.(298-300)aGa>aTa	p.R100I	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R100I	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	100					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.R100I(1)									TTCTTGAGTTCTTTTAGTGAC	0.403																																					p.R100I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299T	6						.						259.0	239.0	245.0					6																	121642797		1894	4117	6011	121684496	SO:0001583	missense	221322	exon2			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.299G>T	6.37:g.121642797C>A	ENSP00000381270:p.Arg100Ile		121684496	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197545	0.22037	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.19806	2.12;2.12;2.12	5.44	2.25	0.28309	.	0.381500	0.27345	N	0.019797	T	0.08044	0.0201	L	0.54323	1.7	0.42155	D	0.991578	B	0.28584	0.216	B	0.23852	0.049	T	0.06180	-1.0841	10	0.72032	D	0.01	-5.8151	5.8378	0.18617	0.1452:0.5505:0.0:0.3043	.	100	Q96NH3	BROMI_HUMAN	I	100	ENSP00000275159:R100I;ENSP00000381270:R100I;ENSP00000397993:R100I	ENSP00000275159:R100I	R	-	2	0	C6orf170	121684496	0.650000	0.27331	0.961000	0.40146	0.306000	0.27790	0.665000	0.25083	0.642000	0.30620	0.609000	0.83330	AGA		0.403	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
GJA1	2697	broad.mit.edu	37	6	121768295	121768295	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121768295G>A	ENST00000282561.3	+	2	459	c.302G>A	c.(301-303)cGa>cAa	p.R101Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	101					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.R101Q(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TATGTGATGCGAAAGGAAGAG	0.443																																					p.R101Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	6						.						83.0	73.0	76.0					6																	121768295		2203	4300	6503	121809994	SO:0001583	missense	2697	exon2			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.302G>A	6.37:g.121768295G>A	ENSP00000282561:p.Arg101Gln		121809994	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661625	0.88154	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.99089	-5.41	5.32	4.45	0.53987	Connexin, N-terminal (1);	0.190029	0.41500	D	0.000861	D	0.96800	0.8955	M	0.62154	1.92	0.51012	D	0.999903	P	0.38565	0.637	B	0.35550	0.205	D	0.96731	0.9539	10	0.66056	D	0.02	.	13.8968	0.63778	0.0734:0.0:0.9265:0.0	.	101	P17302	CXA1_HUMAN	Q	85;101	ENSP00000282561:R101Q	ENSP00000282561:R101Q	R	+	2	0	GJA1	121809994	1.000000	0.71417	0.333000	0.25482	0.700000	0.40528	9.813000	0.99286	1.264000	0.44198	0.460000	0.39030	CGA		0.443	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
GJA1	2697	broad.mit.edu	37	6	121768540	121768540	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121768540G>A	ENST00000282561.3	+	2	704	c.547G>A	c.(547-549)Gct>Act	p.A183T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	183					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.A183T(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAGCTTGAGTGCTGTTTACAC	0.488																																					p.A183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	6						.						119.0	111.0	114.0					6																	121768540		2203	4300	6503	121810239	SO:0001583	missense	2697	exon2			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.547G>A	6.37:g.121768540G>A	ENSP00000282561:p.Ala183Thr		121810239	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689605	0.48097	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.95554	-3.74	5.81	5.81	0.92471	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	L	0.37750	1.13	0.58432	D	0.999999	B	0.32862	0.387	B	0.35859	0.212	D	0.90333	0.4353	10	0.45353	T	0.12	.	20.0796	0.97766	0.0:0.0:1.0:0.0	.	183	P17302	CXA1_HUMAN	T	167;183	ENSP00000282561:A183T	ENSP00000282561:A183T	A	+	1	0	GJA1	121810239	1.000000	0.71417	0.357000	0.25798	0.088000	0.18126	6.539000	0.73856	2.758000	0.94735	0.460000	0.39030	GCT		0.488	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
GJA1	2697	broad.mit.edu	37	6	121768668	121768668	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121768668C>A	ENST00000282561.3	+	2	832	c.675C>A	c.(673-675)atC>atA	p.I225I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	225					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.I225I(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCTTGAATATCATTGAACTCT	0.522																																					p.I225I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675A	6						.						140.0	140.0	140.0					6																	121768668		2203	4300	6503	121810367	SO:0001819	synonymous_variant	2697	exon2			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.675C>A	6.37:g.121768668C>A			121810367	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	CCDS5123.1																																																																																				0.522	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
HIVEP1	3096	broad.mit.edu	37	6	12121650	12121650	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:12121650T>C	ENST00000379388.2	+	4	1954	c.1622T>C	c.(1621-1623)gTg>gCg	p.V541A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	541					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V541A(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAGAAAATGTGATAGGTGAC	0.458																																					p.V541A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1622C	6						.						55.0	53.0	53.0					6																	12121650		2005	4183	6188	12229636	SO:0001583	missense	3096	exon4			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1622T>C	6.37:g.12121650T>C	ENSP00000368698:p.Val541Ala		12229636	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	2.157	-0.393101	0.04899	.	.	ENSG00000095951	ENST00000379388	T	0.10099	2.91	5.61	1.89	0.25635	.	0.531081	0.14195	N	0.335043	T	0.02418	0.0074	L	0.41027	1.25	0.20975	N	0.999812	B	0.06786	0.001	B	0.08055	0.003	T	0.45293	-0.9271	9	.	.	.	-3.7613	5.9058	0.19001	0.0:0.1552:0.1393:0.7055	.	541	P15822	ZEP1_HUMAN	A	541	ENSP00000368698:V541A	.	V	+	2	0	HIVEP1	12229636	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.365000	0.20348	0.382000	0.24878	0.533000	0.62120	GTG		0.458	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HIVEP1	3096	broad.mit.edu	37	6	12122765	12122765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:12122765C>A	ENST00000379388.2	+	4	3069	c.2737C>A	c.(2737-2739)Ctt>Att	p.L913I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	913					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L913I(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGTCATGTTCTTGGTACTGG	0.537																																					p.L913I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2737A	6						.						57.0	58.0	58.0					6																	12122765		2033	4188	6221	12230751	SO:0001583	missense	3096	exon4			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2737C>A	6.37:g.12122765C>A	ENSP00000368698:p.Leu913Ile		12230751	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395252	0.25205	.	.	ENSG00000095951	ENST00000379388	T	0.11277	2.79	6.02	5.14	0.70334	.	0.277746	0.19518	N	0.112357	T	0.08268	0.0206	M	0.73319	2.225	0.80722	D	1	P	0.49635	0.926	B	0.42882	0.401	T	0.07731	-1.0757	9	.	.	.	-7.2476	11.3941	0.49832	0.0:0.805:0.1277:0.0674	.	913	P15822	ZEP1_HUMAN	I	913	ENSP00000368698:L913I	.	L	+	1	0	HIVEP1	12230751	0.902000	0.30710	0.005000	0.12908	0.126000	0.20510	2.056000	0.41355	1.521000	0.48983	0.655000	0.94253	CTT		0.537	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HIVEP1	3096	broad.mit.edu	37	6	12124863	12124863	+	Missense_Mutation	SNP	C	C	T	rs373301856		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:12124863C>T	ENST00000379388.2	+	4	5167	c.4835C>T	c.(4834-4836)tCg>tTg	p.S1612L	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1612					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1612L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGTCTAATTCGCATCCTCTG	0.458																																					p.S1612L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4835T	6						.	C	LEU/SER	0,4122		0,0,2061	122.0	122.0	122.0		4835	4.4	0.0	6		122	1,8391		0,1,4195	no	missense	HIVEP1	NM_002114.2	145	0,1,6256	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	1612/2719	12124863	1,12513	2061	4196	6257	12232849	SO:0001583	missense	3096	exon4			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4835C>T	6.37:g.12124863C>T	ENSP00000368698:p.Ser1612Leu		12232849	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850533	0.51270	0.0	1.19E-4	ENSG00000095951	ENST00000379388	T	0.09630	2.96	5.24	4.36	0.52297	.	0.330324	0.17166	N	0.184441	T	0.06188	0.0160	M	0.73598	2.24	0.22280	N	0.999239	P	0.45986	0.87	B	0.33846	0.171	T	0.11227	-1.0596	9	.	.	.	-1.2047	15.8325	0.78764	0.0:0.8639:0.1361:0.0	.	1612	P15822	ZEP1_HUMAN	L	1612	ENSP00000368698:S1612L	.	S	+	2	0	HIVEP1	12232849	0.033000	0.19621	0.002000	0.10522	0.003000	0.03518	2.663000	0.46774	1.395000	0.46643	0.650000	0.86243	TCG		0.458	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HIVEP1	3096	broad.mit.edu	37	6	12161713	12161713	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:12161713C>T	ENST00000379388.2	+	8	6861	c.6529C>T	c.(6529-6531)Ctt>Ttt	p.L2177F	HIVEP1_ENST00000541134.1_Missense_Mutation_p.L42F	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2177					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L2177F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGATATGATCTTGAAGAATC	0.428																																					p.L2177F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6529T	6						.						83.0	91.0	88.0					6																	12161713		1997	4175	6172	12269699	SO:0001583	missense	3096	exon8			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6529C>T	6.37:g.12161713C>T	ENSP00000368698:p.Leu2177Phe		12269699	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433521	0.62955	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.33654	2.9;1.4	5.77	3.85	0.44370	.	0.277119	0.19473	N	0.113405	T	0.10465	0.0256	L	0.49126	1.545	0.33567	D	0.598129	P	0.42735	0.788	B	0.33750	0.169	T	0.06180	-1.0841	10	0.11794	T	0.64	-9.3251	7.2537	0.26164	0.1714:0.5186:0.31:0.0	.	2177	P15822	ZEP1_HUMAN	F	2177;104;42;159	ENSP00000368698:L2177F;ENSP00000445617:L42F	ENSP00000368698:L2177F	L	+	1	0	HIVEP1	12269699	0.994000	0.37717	0.263000	0.24496	0.870000	0.49936	4.838000	0.62803	1.381000	0.46364	0.655000	0.94253	CTT		0.428	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
GJA1	2697	broad.mit.edu	37	6	121769011	121769011	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:121769011G>T	ENST00000282561.3	+	2	1175	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	340					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.D340Y(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTTCCCCGATGATAACCAGAA	0.493																																					p.D340Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018T	6						.						65.0	69.0	68.0					6																	121769011		2203	4300	6503	121810710	SO:0001583	missense	2697	exon2			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.1018G>T	6.37:g.121769011G>T	ENSP00000282561:p.Asp340Tyr		121810710	NM_000165	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798592	0.50208	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.79352	-1.26	4.75	4.75	0.60458	.	1.387560	0.04996	N	0.468186	T	0.74619	0.3740	N	0.24115	0.695	0.58432	D	0.999999	P	0.35793	0.521	P	0.48901	0.594	T	0.65450	-0.6165	10	0.72032	D	0.01	.	18.2902	0.90127	0.0:0.0:1.0:0.0	.	340	P17302	CXA1_HUMAN	Y	324;340	ENSP00000282561:D340Y	ENSP00000282561:D340Y	D	+	1	0	GJA1	121810710	1.000000	0.71417	0.994000	0.49952	0.899000	0.52679	9.066000	0.93949	2.625000	0.88918	0.484000	0.47621	GAT		0.493	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165	
SERINC1	57515	broad.mit.edu	37	6	122774931	122774931	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:122774931C>T	ENST00000339697.4	-	5	657	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	191					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.S191S(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ACCAACATCTCGAGTTCCCTT	0.383																																					p.S191S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G573A	6						.						152.0	133.0	139.0					6																	122774931		2203	4300	6503	122816630	SO:0001819	synonymous_variant	57515	exon5			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.573G>A	6.37:g.122774931C>T			122816630	NM_020755	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Silent	SNP	ENST00000339697.4	37	CCDS5125.1																																																																																				0.383	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755	
SMPDL3A	10924	broad.mit.edu	37	6	123126129	123126129	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:123126129A>C	ENST00000368440.4	+	6	991	c.814A>C	c.(814-816)Aat>Cat	p.N272H	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.N141H	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	272					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.N272H(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGAATACTATAATGAGAAATT	0.363																																					p.N272H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A814C	6						.						107.0	108.0	108.0					6																	123126129		2203	4300	6503	123167828	SO:0001583	missense	10924	exon6			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.814A>C	6.37:g.123126129A>C	ENSP00000357425:p.Asn272His		123167828	NM_006714	B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301149	0.60195	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.90788	-2.73;-2.73	5.7	5.7	0.88788	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94614	0.7807	10	0.51188	T	0.08	-30.6155	15.9645	0.79956	1.0:0.0:0.0:0.0	.	272	Q92484	ASM3A_HUMAN	H	272;141	ENSP00000357425:N272H;ENSP00000442152:N141H	ENSP00000357425:N272H	N	+	1	0	SMPDL3A	123167828	1.000000	0.71417	0.983000	0.44433	0.217000	0.24651	8.962000	0.93254	2.174000	0.68829	0.533000	0.62120	AAT		0.363	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714	
CLVS2	134829	broad.mit.edu	37	6	123332304	123332304	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:123332304G>T	ENST00000275162.5	+	3	1899	c.564G>T	c.(562-564)caG>caT	p.Q188H	CLVS2_ENST00000368438.1_Splice_Site_p.Q42H	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	188	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Q188H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGGCCTGCAGGTAGGATATG	0.373																																					p.Q188H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	6						.						97.0	83.0	88.0					6																	123332304		2203	4300	6503	123374003	SO:0001630	splice_region_variant	134829	exon3			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.564+1G>T	6.37:g.123332304G>T			123374003	NM_001010852	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591504	0.66219	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.87571	-2.27;-2.27	5.07	5.07	0.68467	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.89353	3.025	0.80722	D	1	B	0.18863	0.031	B	0.28385	0.089	D	0.86841	0.2017	10	0.66056	D	0.02	-21.3705	18.6278	0.91347	0.0:0.0:1.0:0.0	.	188	Q5SYC1	CLVS2_HUMAN	H	188;42	ENSP00000275162:Q188H;ENSP00000357423:Q42H	ENSP00000275162:Q188H	Q	+	3	2	CLVS2	123374003	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.578000	0.98200	2.625000	0.88918	0.585000	0.79938	CAG		0.373	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852	Missense_Mutation
TRDN	10345	broad.mit.edu	37	6	123539774	123539774	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:123539774G>T	ENST00000398178.3	-	41	2183	c.2162C>A	c.(2161-2163)tCt>tAt	p.S721Y	TRDN_ENST00000334268.4_Missense_Mutation_p.S713Y	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	721					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.S721Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTGTCCTGGAGAATTTGCTTG	0.438																																					p.S721Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2162A	6						.						128.0	116.0	120.0					6																	123539774		1886	4108	5994	123581473	SO:0001583	missense	10345	exon41			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.2162C>A	6.37:g.123539774G>T	ENSP00000381240:p.Ser721Tyr		123581473	NM_006073	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389057	0.42410	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.32023	1.48;1.47	4.94	4.94	0.65067	.	0.197503	0.25461	N	0.030504	T	0.22898	0.0553	L	0.27053	0.805	0.80722	D	1	P	0.48407	0.91	P	0.51487	0.671	T	0.03017	-1.1082	10	0.87932	D	0	-1.6955	14.0166	0.64527	0.0:0.0:1.0:0.0	.	721	Q13061	TRDN_HUMAN	Y	721;723;713	ENSP00000381240:S721Y;ENSP00000333984:S713Y	ENSP00000333984:S713Y	S	-	2	0	TRDN	123581473	1.000000	0.71417	0.756000	0.31282	0.092000	0.18411	4.951000	0.63610	2.439000	0.82584	0.655000	0.94253	TCT		0.438	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
HEY2	23493	broad.mit.edu	37	6	126080403	126080403	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126080403C>A	ENST00000368364.3	+	5	666	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	HEY2_ENST00000368365.1_Missense_Mutation_p.L111I	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	157	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L157I(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGTGTCTCATCTCAGCACTTG	0.647																																					p.L157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469A	6						.						74.0	69.0	71.0					6																	126080403		2203	4300	6503	126122096	SO:0001583	missense	23493	exon5			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.469C>A	6.37:g.126080403C>A	ENSP00000357348:p.Leu157Ile		126122096	NM_012259		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812505	0.96975	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.79749	-1.3;-1.3	5.64	5.64	0.86602	Orange subgroup (1);Orange (2);	0.078608	0.51477	D	0.000081	D	0.91888	0.7432	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92987	0.6411	10	0.72032	D	0.01	-24.6888	19.7025	0.96060	0.0:1.0:0.0:0.0	.	157	Q9UBP5	HEY2_HUMAN	I	111;157	ENSP00000357349:L111I;ENSP00000357348:L157I	ENSP00000357348:L157I	L	+	1	0	HEY2	126122096	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.731000	0.84895	2.664000	0.90586	0.561000	0.74099	CTC		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
NCOA7	135112	broad.mit.edu	37	6	126210166	126210166	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126210166C>A	ENST00000368357.3	+	10	1318	c.966C>A	c.(964-966)ttC>ttA	p.F322L	NCOA7_ENST00000229634.9_Missense_Mutation_p.F207L|NCOA7_ENST00000392477.2_Missense_Mutation_p.F322L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.F322L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TCAACCCATTCAGTAAGTTCA	0.443																																					p.F322L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C966A	6						.						107.0	112.0	110.0					6																	126210166		2203	4300	6503	126251859	SO:0001583	missense	135112	exon11			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.966C>A	6.37:g.126210166C>A	ENSP00000357341:p.Phe322Leu		126251859	NM_001199620	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047570	0.75846	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.37915	2.62;2.62;2.66;1.17	5.61	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.36672	1.1	0.50467	D	0.999879	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.994;0.994;0.94	T	0.06303	-1.0834	10	0.17832	T	0.49	.	9.0626	0.36444	0.0:0.7626:0.0:0.2374	.	311;311;322	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	L	322;322;207;120	ENSP00000357341:F322L;ENSP00000376269:F322L;ENSP00000229634:F207L;ENSP00000389186:F120L	ENSP00000229634:F207L	F	+	3	2	NCOA7	126251859	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.753000	0.55180	0.749000	0.32854	0.591000	0.81541	TTC		0.443	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
NCOA7	135112	broad.mit.edu	37	6	126210984	126210984	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126210984C>A	ENST00000368357.3	+	10	2136	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y	NCOA7_ENST00000229634.9_Missense_Mutation_p.S480Y|NCOA7_ENST00000392477.2_Missense_Mutation_p.S595Y	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	595					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.S595Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AAACTGAACTCTTCTACAGAA	0.453																																					p.S595Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1784A	6						.						59.0	63.0	62.0					6																	126210984		2203	4300	6503	126252677	SO:0001583	missense	135112	exon11			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1784C>A	6.37:g.126210984C>A	ENSP00000357341:p.Ser595Tyr		126252677	NM_001199620	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676892	0.14841	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.42	3.59	0.41128	.	0.971136	0.08466	N	0.941758	T	0.14227	0.0344	L	0.27053	0.805	0.09310	N	1	B;P;P	0.42649	0.0;0.786;0.681	B;P;B	0.47251	0.001;0.542;0.254	T	0.27191	-1.0081	10	0.72032	D	0.01	1.0312	7.4467	0.27215	0.3014:0.6229:0.0:0.0757	.	584;584;595	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	Y	595;595;480;393	ENSP00000357341:S595Y;ENSP00000376269:S595Y;ENSP00000229634:S480Y;ENSP00000389186:S393Y	ENSP00000229634:S480Y	S	+	2	0	NCOA7	126252677	0.000000	0.05858	0.001000	0.08648	0.372000	0.29890	0.949000	0.29109	0.613000	0.30089	0.655000	0.94253	TCT		0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748	
HINT3	135114	broad.mit.edu	37	6	126296098	126296098	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126296098C>A	ENST00000229633.5	+	4	692	c.495C>A	c.(493-495)gtC>gtA	p.V165V		NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	165						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)	p.V165V(1)		endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		TTTATAGAGTCAATTCCTATT	0.363																																					p.V165V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C495A	6						.						160.0	149.0	153.0					6																	126296098		2203	4300	6503	126337791	SO:0001819	synonymous_variant	135114	exon4			AK057688	CCDS5133.1	6q22.33	2007-12-04			ENSG00000111911	ENSG00000111911			18468	protein-coding gene	gene with protein product		609998				11805111	Standard	NM_138571		Approved	FLJ33126	uc003qal.4	Q9NQE9	OTTHUMG00000015514	ENST00000229633.5:c.495C>A	6.37:g.126296098C>A			126337791	NM_138571	B3KQ91|Q8N0Y9	Silent	SNP	ENST00000229633.5	37	CCDS5133.1																																																																																				0.363	HINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042090.1	NM_138571	
TRMT11	60487	broad.mit.edu	37	6	126332553	126332553	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126332553C>A	ENST00000334379.5	+	9	1036	c.915C>A	c.(913-915)atC>atA	p.I305I	TRMT11_ENST00000368332.3_Silent_p.I305I	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	305					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.I305I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTGATGCAATCATTACTGATC	0.333																																					p.I305I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915A	6						.						81.0	68.0	73.0					6																	126332553		2203	4300	6503	126374246	SO:0001819	synonymous_variant	60487	exon9			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.915C>A	6.37:g.126332553C>A			126374246	NM_001031712	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	C	8.722	0.914615	0.17907	.	.	ENSG00000066651	ENST00000453993	.	.	.	5.49	2.59	0.31030	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26780	-1.0093	4	.	.	.	-5.4922	6.2129	0.20640	0.1265:0.6484:0.0:0.2251	.	.	.	.	N	104	.	.	H	+	1	0	TRMT11	126374246	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.734000	0.26101	0.620000	0.30215	-0.345000	0.07892	CAT		0.333	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820	
CENPW	387103	broad.mit.edu	37	6	126667416	126667416	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:126667416G>A	ENST00000368328.4	+	2	292	c.192G>A	c.(190-192)gcG>gcA	p.A64A	CENPW_ENST00000368325.1_Silent_p.A79A|CENPW_ENST00000368326.1_Missense_Mutation_p.R51Q			Q5EE01	CENPW_HUMAN	centromere protein W	64					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A64A(2)		kidney(2)|large_intestine(1)|lung(3)	6						ACGCTTGTGCGAGTAAATGTA	0.373																																					p.A64A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G192A	6						.						115.0	110.0	112.0					6																	126667416		2203	4300	6503	126709109	SO:0001819	synonymous_variant	387103	exon2			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.192G>A	6.37:g.126667416G>A			126709109	NM_001012507	A6NIR0|A6NJC2	Silent	SNP	ENST00000368328.4	37	CCDS34529.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567507	0.28003	.	.	ENSG00000203760	ENST00000368326	.	.	.	5.61	1.85	0.25348	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	5	0.87932	D	0	-4.8312	6.7698	0.23587	0.38:0.0:0.62:0.0	.	.	.	.	Q	51	.	ENSP00000357309:R51Q	R	+	2	0	CENPW	126709109	1.000000	0.71417	0.944000	0.38274	0.569000	0.35902	1.863000	0.39459	0.308000	0.22923	-0.244000	0.11960	CGA		0.373	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042104.1		
KIAA0408	9729	broad.mit.edu	37	6	127768124	127768124	+	Missense_Mutation	SNP	C	C	T	rs267600792		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:127768124C>T	ENST00000483725.3	-	5	1676	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	447								p.R447K(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAATACAGTTCTGTTAAATTC	0.413																																					p.R447K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1340A	6						.						68.0	71.0	70.0					6																	127768124		2203	4300	6503	127809817	SO:0001583	missense	9729	exon5			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1340G>A	6.37:g.127768124C>T	ENSP00000435150:p.Arg447Lys		127809817	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905602	0.92107	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.59906	0.23	5.18	5.18	0.71444	.	0.000000	0.41605	U	0.000853	T	0.69967	0.3170	M	0.66939	2.045	0.46725	D	0.999176	D	0.89917	1.0	D	0.85130	0.997	T	0.73892	-0.3839	10	0.87932	D	0	-13.2877	16.8826	0.86067	0.0:1.0:0.0:0.0	.	447	Q6ZU52	K0408_HUMAN	K	36;447	ENSP00000435150:R447K	ENSP00000436178:R36K	R	-	2	0	KIAA0408	127809817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.589000	0.74080	2.410000	0.81850	0.655000	0.94253	AGA		0.413	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	
KIAA0408	9729	broad.mit.edu	37	6	127768215	127768215	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:127768215C>T	ENST00000483725.3	-	5	1585	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	417								p.E417K(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTACTGCTCTCTGCTACTGAG	0.413																																					p.E417K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1249A	6						.						67.0	69.0	68.0					6																	127768215		2203	4300	6503	127809908	SO:0001583	missense	9729	exon5			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1249G>A	6.37:g.127768215C>T	ENSP00000435150:p.Glu417Lys		127809908	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	1.137	-0.650626	0.03506	.	.	ENSG00000189367	ENST00000465254;ENST00000483725	T	0.29655	1.56	5.38	2.58	0.30949	.	0.663482	0.11386	U	0.569350	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36866	-0.9730	10	0.44086	T	0.13	0.098	5.2513	0.15522	0.0757:0.2785:0.5123:0.1335	.	417	Q6ZU52	K0408_HUMAN	K	6;417	ENSP00000435150:E417K	ENSP00000436178:E6K	E	-	1	0	KIAA0408	127809908	0.041000	0.20044	0.003000	0.11579	0.002000	0.02628	0.902000	0.28459	0.237000	0.21200	-0.165000	0.13383	GAG		0.413	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	
KIAA0408	9729	broad.mit.edu	37	6	127770989	127770989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:127770989G>A	ENST00000483725.3	-	4	892	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	186								p.R186*(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GACCGCTTTCGAATTTCCTCT	0.363																																					p.R186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C556T	6						.						125.0	123.0	124.0					6																	127770989		2203	4300	6503	127812682	SO:0001587	stop_gained	9729	exon4			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.556C>T	6.37:g.127770989G>A	ENSP00000435150:p.Arg186*		127812682	NM_014702	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Nonsense_Mutation	SNP	ENST00000483725.3	37	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	G	39	7.343593	0.98224	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.71	4.82	0.62117	.	0.445152	0.17657	U	0.166443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6788	15.7786	0.78243	0.0:0.0:0.8627:0.1373	.	.	.	.	X	186;198	.	ENSP00000435150:R186X	R	-	1	2	KIAA0408	127812682	0.997000	0.39634	0.963000	0.40424	0.996000	0.88848	2.953000	0.49105	1.353000	0.45828	0.655000	0.94253	CGA		0.363	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	
SOGA3	387104	broad.mit.edu	37	6	127797080	127797080	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:127797080C>A	ENST00000525778.1	-	6	2836	c.2091G>T	c.(2089-2091)aaG>aaT	p.K697N	SOGA3_ENST00000556132.1_Missense_Mutation_p.K697N|SOGA3_ENST00000368268.2_Missense_Mutation_p.K697N|SOGA3_ENST00000465909.2_Missense_Mutation_p.K697N|SOGA3_ENST00000481848.2_Missense_Mutation_p.K697N|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	697					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.K697N(1)									GGGCCTCGGTCTTGGCGTTGT	0.632																																					p.K697N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2091T	6						.						75.0	82.0	79.0					6																	127797080		2192	4295	6487	127838773	SO:0001583	missense	387104	exon6			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2091G>T	6.37:g.127797080C>A	ENSP00000434570:p.Lys697Asn		127838773	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977737	0.53720	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33865	1.39;1.39;1.39;1.4	5.22	4.35	0.52113	.	0.257134	0.45606	D	0.000358	T	0.34861	0.0912	L	0.57536	1.79	0.53688	D	0.999973	P	0.43633	0.813	P	0.52710	0.707	T	0.08680	-1.0710	10	0.35671	T	0.21	-26.6774	13.3714	0.60715	0.0:0.9242:0.0:0.0758	.	697	Q5TF21	CF174_HUMAN	N	697	ENSP00000451768:K697N;ENSP00000357251:K697N;ENSP00000434570:K697N;ENSP00000435559:K697N	ENSP00000435559:K697N	K	-	3	2	C6orf174	127838773	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.485000	0.45250	1.207000	0.43291	0.561000	0.74099	AAG		0.632	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
SOGA3	387104	broad.mit.edu	37	6	127836142	127836142	+	Missense_Mutation	SNP	G	G	T	rs371537730		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:127836142G>T	ENST00000525778.1	-	3	1897	c.1152C>A	c.(1150-1152)ttC>ttA	p.F384L	SOGA3_ENST00000556132.1_Missense_Mutation_p.F384L|SOGA3_ENST00000368268.2_Missense_Mutation_p.F384L|SOGA3_ENST00000465909.2_Missense_Mutation_p.F384L|SOGA3_ENST00000481848.2_Missense_Mutation_p.F384L			Q5TF21	SOGA3_HUMAN	SOGA family member 3	384					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.F384L(1)									CCTCCTCGAAGAAAGTGTCCC	0.562																																					p.F384L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1152A	6						.						190.0	190.0	190.0					6																	127836142		2124	4243	6367	127877835	SO:0001583	missense	387104	exon3			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.1152C>A	6.37:g.127836142G>T	ENSP00000434570:p.Phe384Leu		127877835	NM_001012279		Missense_Mutation	SNP	ENST00000525778.1	37	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682952	0.88542	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.65	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.77103	2.36	0.48762	D	0.999709	P	0.46859	0.885	P	0.49799	0.622	T	0.02257	-1.1187	10	0.72032	D	0.01	-13.9869	10.8309	0.46659	0.1462:0.0:0.8538:0.0	.	384	Q5TF21	CF174_HUMAN	L	384	ENSP00000451768:F384L;ENSP00000357251:F384L;ENSP00000434570:F384L;ENSP00000435559:F384L	ENSP00000435559:F384L	F	-	3	2	C6orf174	127877835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.812000	0.69194	2.666000	0.90696	0.557000	0.71058	TTC		0.562	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
THEMIS	387357	broad.mit.edu	37	6	128150625	128150625	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:128150625C>A	ENST00000368248.2	-	3	853	c.705G>T	c.(703-705)atG>atT	p.M235I	THEMIS_ENST00000537166.1_Missense_Mutation_p.M200I|THEMIS_ENST00000543064.1_Missense_Mutation_p.M235I|THEMIS_ENST00000368250.1_Missense_Mutation_p.M156I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	235	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M235I(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACTCACATTTCATCACACCTT	0.373																																					p.M235I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G705T	6						.						99.0	95.0	96.0					6																	128150625		2203	4300	6503	128192318	SO:0001583	missense	387357	exon3			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.705G>T	6.37:g.128150625C>A	ENSP00000357231:p.Met235Ile		128192318	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890145	0.52014	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	6.14	5.27	0.74061	.	0.216084	0.49916	D	0.000122	T	0.09774	0.0240	M	0.77313	2.365	0.26814	N	0.968934	P;P	0.40000	0.617;0.698	B;B	0.36845	0.173;0.234	T	0.06881	-1.0802	10	0.42905	T	0.14	-17.0971	15.4432	0.75204	0.0:0.9339:0.0:0.0661	.	235;235	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	156;235;235;200	ENSP00000357233:M156I;ENSP00000439594:M235I;ENSP00000357231:M235I;ENSP00000439863:M200I	ENSP00000357231:M235I	M	-	3	0	THEMIS	128192318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.475000	0.53136	1.612000	0.50221	0.650000	0.86243	ATG		0.373	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
THEMIS	387357	broad.mit.edu	37	6	128150791	128150791	+	Missense_Mutation	SNP	C	C	T	rs537149882	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:128150791C>T	ENST00000368248.2	-	3	687	c.539G>A	c.(538-540)cGt>cAt	p.R180H	THEMIS_ENST00000537166.1_Missense_Mutation_p.R145H|THEMIS_ENST00000543064.1_Missense_Mutation_p.R180H|THEMIS_ENST00000368250.1_Missense_Mutation_p.R101H	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	180	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R180H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGTGTAAATACGTTCATCTTC	0.363													C|||	3	0.000599042	0.0	0.0	5008	,	,		21536	0.0		0.0	False		,,,				2504	0.0031				p.R180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	6						.						139.0	134.0	136.0					6																	128150791		2203	4300	6503	128192484	SO:0001583	missense	387357	exon3			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.539G>A	6.37:g.128150791C>T	ENSP00000357231:p.Arg180His		128192484	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251022	0.22880	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	6.14	3.78	0.43462	.	0.402393	0.27388	N	0.019586	T	0.01092	0.0036	N	0.01048	-1.04	0.22896	N	0.998599	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	10	0.15952	T	0.53	-7.4055	9.137	0.36879	0.0:0.2076:0.0:0.7924	.	180;180	F5H1J9;Q8N1K5	.;THMS1_HUMAN	H	101;180;180;145	ENSP00000357233:R101H;ENSP00000439594:R180H;ENSP00000357231:R180H;ENSP00000439863:R145H	ENSP00000357231:R180H	R	-	2	0	THEMIS	128192484	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.782000	0.38654	0.573000	0.29400	-0.312000	0.09012	CGT		0.363	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
THEMIS	387357	broad.mit.edu	37	6	128176286	128176286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:128176286C>A	ENST00000368248.2	-	2	287	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	THEMIS_ENST00000537166.1_Nonsense_Mutation_p.E12*|THEMIS_ENST00000543064.1_Nonsense_Mutation_p.E47*|THEMIS_ENST00000368250.1_5'UTR	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	47	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E47*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTAATCACTTCTCCTGTTGAA	0.323																																					p.E47X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G139T	6						.						77.0	76.0	76.0					6																	128176286		2203	4300	6503	128217979	SO:0001587	stop_gained	387357	exon2			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.139G>T	6.37:g.128176286C>A	ENSP00000357231:p.Glu47*		128217979	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Nonsense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	37	6.493518	0.97612	.	.	ENSG00000172673	ENST00000543064;ENST00000368248;ENST00000537166	.	.	.	5.73	5.73	0.89815	.	0.067569	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.9145	19.8863	0.96913	0.0:1.0:0.0:0.0	.	.	.	.	X	47;47;12	.	ENSP00000357231:E47X	E	-	1	0	THEMIS	128217979	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.652000	0.67959	2.688000	0.91661	0.650000	0.86243	GAA		0.323	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
LAMA2	3908	broad.mit.edu	37	6	129712699	129712699	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:129712699G>T	ENST00000421865.2	+	36	5184	c.5135G>T	c.(5134-5136)aGa>aTa	p.R1712I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1712	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1712I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCTTTGAGAGAAATTTGGAA	0.368																																					p.R1712I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5135T	6						.						100.0	112.0	108.0					6																	129712699		2203	4300	6503	129754392	SO:0001583	missense	3908	exon36			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5135G>T	6.37:g.129712699G>T	ENSP00000400365:p.Arg1712Ile		129754392	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959517	0.34565	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10192	2.9	6.06	1.86	0.25419	Laminin I (1);	0.200765	0.51477	D	0.000088	T	0.01592	0.0051	N	0.12182	0.205	0.44085	D	0.996849	B;B	0.14012	0.009;0.009	B;B	0.14578	0.011;0.011	T	0.40289	-0.9571	10	0.36615	T	0.2	.	2.6986	0.05142	0.4547:0.0:0.3359:0.2095	.	1712;1712	A6NF00;P24043	.;LAMA2_HUMAN	I	1712	ENSP00000400365:R1712I	ENSP00000346769:R1712I	R	+	2	0	LAMA2	129754392	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.120000	0.41968	0.459000	0.27016	-0.158000	0.13435	AGA		0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129813150	129813150	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:129813150A>C	ENST00000421865.2	+	57	8052	c.8003A>C	c.(8002-8004)gAa>gCa	p.E2668A	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2668	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E2668A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTCCACCTGAATTTCAACCT	0.398																																					p.E2664A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7991C	6						.						80.0	83.0	82.0					6																	129813150		2203	4300	6503	129854843	SO:0001583	missense	3908	exon56			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8003A>C	6.37:g.129813150A>C	ENSP00000400365:p.Glu2668Ala		129854843	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	3.238	-0.155965	0.06544	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.80123	-1.34	5.55	5.55	0.83447	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.231876	0.49916	D	0.000130	T	0.72439	0.3460	M	0.61703	1.905	0.39353	D	0.965783	B;B	0.29212	0.237;0.237	B;B	0.37731	0.257;0.257	T	0.71938	-0.4441	9	.	.	.	.	13.0338	0.58859	0.8661:0.1339:0.0:0.0	.	2669;2668	A6NF00;P24043	.;LAMA2_HUMAN	A	2668;2667;2668;686	ENSP00000400365:E2668A	.	E	+	2	0	LAMA2	129854843	1.000000	0.71417	0.984000	0.44739	0.075000	0.17131	2.947000	0.49058	2.233000	0.73108	0.533000	0.62120	GAA		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129824404	129824404	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:129824404C>A	ENST00000421865.2	+	60	8575	c.8526C>A	c.(8524-8526)atC>atA	p.I2842I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2842	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.I2842I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCACCAAAATCAATGATGGCC	0.493																																					p.I2838I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8514A	6						.						81.0	76.0	78.0					6																	129824404		2203	4300	6503	129866097	SO:0001819	synonymous_variant	3908	exon59			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8526C>A	6.37:g.129824404C>A			129866097	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.493	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
ARHGAP18	93663	broad.mit.edu	37	6	129963089	129963089	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:129963089C>T	ENST00000368149.2	-	2	276	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.R63Q(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGAAATTGATCGATCAAATGG	0.388																																					p.R63Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	6						.						143.0	140.0	141.0					6																	129963089		2203	4300	6503	130004782	SO:0001583	missense	93663	exon2			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.188G>A	6.37:g.129963089C>T	ENSP00000357131:p.Arg63Gln		130004782	NM_033515		Missense_Mutation	SNP	ENST00000368149.2	37	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198859	0.38806	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.89	5.0	0.66597	.	0.305297	0.25042	N	0.033587	T	0.44664	0.1304	M	0.81497	2.545	0.41605	D	0.988874	P;P	0.42456	0.78;0.629	B;B	0.35073	0.138;0.195	T	0.53479	-0.8433	8	.	.	.	.	13.8728	0.63629	0.0:0.9234:0.0:0.0766	.	63;63	A9UK01;Q8N392	.;RHG18_HUMAN	Q	18;63	.	.	R	-	2	0	ARHGAP18	130004782	1.000000	0.71417	0.687000	0.30102	0.065000	0.16274	2.615000	0.46368	1.426000	0.47256	0.655000	0.94253	CGA		0.388	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515	
TMEM200A	114801	broad.mit.edu	37	6	130762628	130762628	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:130762628C>T	ENST00000296978.3	+	3	1932	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	TMEM200A_ENST00000392429.1_Missense_Mutation_p.S354L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S354L	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	354						integral component of membrane (GO:0016021)		p.S354L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTGGGGAGTCGTTGTCGAGT	0.517																																					p.S354L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1061T	6						.						85.0	83.0	84.0					6																	130762628		2203	4300	6503	130804321	SO:0001583	missense	114801	exon2			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1061C>T	6.37:g.130762628C>T	ENSP00000296978:p.Ser354Leu		130804321	NM_052913	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602463	0.28534	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.129722	0.53938	D	0.000057	T	0.34629	0.0904	L	0.29908	0.895	0.50171	D	0.999853	B	0.32781	0.384	B	0.21546	0.035	T	0.23226	-1.0194	9	0.44086	T	0.13	-8.4043	20.3368	0.98748	0.0:1.0:0.0:0.0	.	354	Q86VY9	T200A_HUMAN	L	354	.	ENSP00000296978:S354L	S	+	2	0	TMEM200A	130804321	0.989000	0.36119	0.939000	0.37840	0.078000	0.17371	2.876000	0.48498	2.805000	0.96524	0.655000	0.94253	TCG		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913	
ARG1	383	broad.mit.edu	37	6	131894434	131894434	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131894434G>A	ENST00000368087.3	+	1	151	c.12G>A	c.(10-12)aaG>aaA	p.K4K	ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Silent_p.K4K			P05089	ARGI1_HUMAN	arginase 1	4					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.K4K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TGAGCGCCAAGTCCAGAACCA	0.423																																					p.K4K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	6						.						105.0	100.0	102.0					6																	131894434		2203	4300	6503	131936127	SO:0001819	synonymous_variant	383	exon1				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.12G>A	6.37:g.131894434G>A			131936127	NM_000045	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Silent	SNP	ENST00000368087.3	37	CCDS5145.1																																																																																				0.423	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1		
MED23	9439	broad.mit.edu	37	6	131913540	131913540	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131913540G>T	ENST00000368068.3	-	25	3638	c.3459C>A	c.(3457-3459)atC>atA	p.I1153I	MED23_ENST00000368058.1_Silent_p.I1159I|MED23_ENST00000354577.4_Silent_p.I1159I|MED23_ENST00000545957.1_Silent_p.I794I|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Silent_p.I1159I|MED23_ENST00000368060.3_Silent_p.I1153I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1153					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.I1159I(1)|p.I1153I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAGGGCAGTGATGATCAAAC	0.373																																					p.I1159I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3477A	6						.						159.0	147.0	151.0					6																	131913540		2203	4300	6503	131955233	SO:0001819	synonymous_variant	9439	exon26			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3459C>A	6.37:g.131913540G>T			131955233	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	CCDS5147.1																																																																																				0.373	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
MED23	9439	broad.mit.edu	37	6	131915359	131915359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131915359G>A	ENST00000368068.3	-	23	3291	c.3112C>T	c.(3112-3114)Cga>Tga	p.R1038*	MED23_ENST00000368058.1_Nonsense_Mutation_p.R1044*|MED23_ENST00000354577.4_Nonsense_Mutation_p.R1044*|MED23_ENST00000545957.1_Nonsense_Mutation_p.R679*|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Nonsense_Mutation_p.R1044*|MED23_ENST00000368060.3_Nonsense_Mutation_p.R1038*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1038					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.R1038*(1)|p.R1044*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCCTGCGGTCGATTATCCTTC	0.458																																					p.R1044X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3130T	6						.						113.0	95.0	101.0					6																	131915359		2203	4300	6503	131957052	SO:0001587	stop_gained	9439	exon24			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3112C>T	6.37:g.131915359G>A	ENSP00000357047:p.Arg1038*		131957052	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	39	7.597745	0.98381	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	6.17	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4923	14.4851	0.67611	0.0:0.0:0.6142:0.3857	.	.	.	.	X	1044;1038;1044;1038;1044;679	.	ENSP00000346588:R1044X	R	-	1	2	MED23	131957052	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	5.550000	0.67268	0.904000	0.36572	-0.152000	0.13540	CGA		0.458	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
MED23	9439	broad.mit.edu	37	6	131917670	131917670	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131917670C>A	ENST00000368068.3	-	21	2945	c.2766G>T	c.(2764-2766)atG>atT	p.M922I	MED23_ENST00000368058.1_Missense_Mutation_p.M928I|MED23_ENST00000354577.4_Missense_Mutation_p.M928I|MED23_ENST00000545957.1_Missense_Mutation_p.M563I|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000403834.3_Missense_Mutation_p.M928I|MED23_ENST00000368060.3_Missense_Mutation_p.M922I	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	922					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.M928I(1)|p.M922I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGTGATAATTCATGTGCTTGG	0.378																																					p.M928I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2784T	6						.						172.0	168.0	170.0					6																	131917670		2203	4300	6503	131959363	SO:0001583	missense	9439	exon22			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2766G>T	6.37:g.131917670C>A	ENSP00000357047:p.Met922Ile		131959363	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388363	0.61956	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	L	0.43152	1.355	0.80722	D	1	B;B;B	0.27791	0.189;0.189;0.157	B;B;B	0.27380	0.079;0.079;0.047	T	0.56619	-0.7949	10	0.25751	T	0.34	-13.4342	20.5373	0.99239	0.0:1.0:0.0:0.0	.	563;922;928	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	I	928;922;928;922;928;563	ENSP00000346588:M928I;ENSP00000357047:M922I;ENSP00000384536:M928I;ENSP00000357039:M922I;ENSP00000357037:M928I;ENSP00000439977:M563I	ENSP00000346588:M928I	M	-	3	0	MED23	131959363	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.818000	0.86416	2.857000	0.98124	0.650000	0.86243	ATG		0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
MED23	9439	broad.mit.edu	37	6	131939626	131939626	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131939626G>A	ENST00000368068.3	-	9	880	c.701C>T	c.(700-702)tCg>tTg	p.S234L	MED23_ENST00000368053.4_Missense_Mutation_p.S234L|MED23_ENST00000539158.1_Missense_Mutation_p.S234L|MED23_ENST00000368058.1_Missense_Mutation_p.S234L|MED23_ENST00000354577.4_Missense_Mutation_p.S234L|MED23_ENST00000540546.1_Missense_Mutation_p.S234L|MED23_ENST00000403834.3_Missense_Mutation_p.S234L|MED23_ENST00000368060.3_Missense_Mutation_p.S234L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	234					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.S234L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATGGCACCCGAATTATTTAC	0.358																																					p.S234L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C701T	6						.						90.0	82.0	84.0					6																	131939626		2203	4300	6503	131981319	SO:0001583	missense	9439	exon9			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.701C>T	6.37:g.131939626G>A	ENSP00000357047:p.Ser234Leu		131981319	NM_015979	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722434	0.89298	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.49	5.49	0.81192	.	0.108809	0.64402	D	0.000006	T	0.77857	0.4193	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.976;0.971	D;P;P	0.66847	0.947;0.611;0.476	T	0.74247	-0.3727	10	0.27082	T	0.32	-0.0088	19.3773	0.94517	0.0:0.0:1.0:0.0	.	234;234;234	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	L	234	ENSP00000346588:S234L;ENSP00000357047:S234L;ENSP00000384536:S234L;ENSP00000357039:S234L;ENSP00000357037:S234L;ENSP00000357032:S234L;ENSP00000437818:S234L;ENSP00000445072:S234L	ENSP00000346588:S234L	S	-	2	0	MED23	131981319	1.000000	0.71417	0.951000	0.38953	0.960000	0.62799	7.515000	0.81761	2.583000	0.87209	0.650000	0.86243	TCG		0.358	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
ENPP3	5169	broad.mit.edu	37	6	131996245	131996245	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:131996245G>A	ENST00000414305.1	+	10	1116	c.788G>A	c.(787-789)gGt>gAt	p.G263D	ENPP3_ENST00000358229.5_Missense_Mutation_p.G263D|ENPP3_ENST00000357639.3_Missense_Mutation_p.G263D|ENPP3_ENST00000543135.1_Missense_Mutation_p.G229D|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	263	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G263D(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTATCAAGGTTTAAAAGCC	0.403																																					p.G263D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G788A	6						.						96.0	92.0	93.0					6																	131996245		2203	4300	6503	132037938	SO:0001583	missense	5169	exon9			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.788G>A	6.37:g.131996245G>A	ENSP00000406261:p.Gly263Asp		132037938	NM_005021	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358077	0.82243	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000358229	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.64	5.64	0.86602	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	D	0.86180	0.5871	M	0.85945	2.785	0.80722	D	1	P	0.35944	0.529	B	0.44163	0.443	D	0.87421	0.2382	10	0.62326	D	0.03	-20.7115	18.4893	0.90841	0.0:0.0:1.0:0.0	.	263	O14638	ENPP3_HUMAN	D	263;263;229;263	ENSP00000406261:G263D;ENSP00000350265:G263D;ENSP00000440810:G229D;ENSP00000350964:G263D	ENSP00000350265:G263D	G	+	2	0	ENPP3	132037938	0.963000	0.33076	0.987000	0.45799	0.764000	0.43329	1.579000	0.36536	2.654000	0.90174	0.542000	0.68232	GGT		0.403	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
ENPP1	5167	broad.mit.edu	37	6	132179887	132179887	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132179887C>T	ENST00000360971.2	+	7	815	c.795C>T	c.(793-795)acC>acT	p.T265T		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	265	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.T213T(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GCATTGTCACCGTAAGCTCTG	0.323																																					p.T265T	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C795T	6						.						124.0	111.0	116.0					6																	132179887		2203	4300	6503	132221580	SO:0001630	splice_region_variant	5167	exon7			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.795+1C>T	6.37:g.132179887C>T			132221580	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																				0.323	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		Silent
MOXD1	26002	broad.mit.edu	37	6	132618355	132618355	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132618355G>T	ENST00000367963.3	-	12	1897	c.1779C>A	c.(1777-1779)ttC>ttA	p.F593L	MOXD1_ENST00000336749.3_Missense_Mutation_p.F525L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	593						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.F525L(1)|p.F593L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGTTGATGGAGAAATCTCTGT	0.438																																					p.F593L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1779A	6						.						150.0	134.0	139.0					6																	132618355		2203	4300	6503	132660048	SO:0001583	missense	26002	exon12			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1779C>A	6.37:g.132618355G>T	ENSP00000356940:p.Phe593Leu		132660048	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	6.233	0.411130	0.11812	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.43294	0.97;0.95	5.7	1.33	0.21861	.	1.363200	0.04540	N	0.388044	T	0.06371	0.0164	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.11485	T	0.65	0.728	2.7927	0.05392	0.1622:0.2427:0.4563:0.1388	.	593;525	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	L	593;525	ENSP00000356940:F593L;ENSP00000336998:F525L	ENSP00000336998:F525L	F	-	3	2	MOXD1	132660048	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.685000	0.25378	0.329000	0.23460	0.591000	0.81541	TTC		0.438	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
MOXD1	26002	broad.mit.edu	37	6	132618927	132618927	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132618927G>A	ENST00000367963.3	-	11	1794	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	MOXD1_ENST00000336749.3_Splice_Site_p.S491L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	559						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418																																					p.S559L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1676T	6						.						120.0	111.0	114.0					6																	132618927		2203	4300	6503	132660620	SO:0001630	splice_region_variant	26002	exon11			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1677+1C>T	6.37:g.132618927G>A			132660620	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817598	0.70912	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.49432	0.78;0.78	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.33673	0.0871	M	0.70595	2.14	0.80722	D	1	P;P	0.52170	0.84;0.951	B;B	0.34590	0.054;0.186	T	0.33317	-0.9873	10	0.29301	T	0.29	-12.6328	18.8014	0.92018	0.0:0.0:1.0:0.0	.	559;491	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	L	559;491	ENSP00000356940:S559L;ENSP00000336998:S491L	ENSP00000336998:S491L	S	-	2	0	MOXD1	132660620	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.383000	0.66219	2.882000	0.98803	0.655000	0.94253	TCG		0.418	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	Missense_Mutation
MOXD1	26002	broad.mit.edu	37	6	132641803	132641803	+	Missense_Mutation	SNP	G	G	A	rs138817081	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132641803G>A	ENST00000367963.3	-	9	1448	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.R376C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	444						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.R444C(1)|p.R376C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTGTTGTAGCGACACTCAGTA	0.308																																					p.R444C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1330T	6						.	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	80.0	78.0	79.0		1330	4.7	1.0	6	dbSNP_134	79	0,8600		0,0,4300	no	missense	MOXD1	NM_015529.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	444/614	132641803	2,13004	2203	4300	6503	132683496	SO:0001583	missense	26002	exon9			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1330C>T	6.37:g.132641803G>A	ENSP00000356940:p.Arg444Cys		132683496	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435217	0.43224	4.54E-4	0.0	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76448	-1.02;-1.02	5.58	4.65	0.58169	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.224065	0.37053	N	0.002280	T	0.59851	0.2224	L	0.39898	1.24	0.80722	D	1	B;B	0.18741	0.017;0.03	B;B	0.18561	0.022;0.005	T	0.58381	-0.7646	10	0.38643	T	0.18	-23.7408	15.2453	0.73502	0.0:0.0:0.8588:0.1411	.	444;376	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	C	444;376	ENSP00000356940:R444C;ENSP00000336998:R376C	ENSP00000336998:R376C	R	-	1	0	MOXD1	132683496	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	2.749000	0.47492	2.782000	0.95742	0.563000	0.77884	CGC		0.308	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
MOXD1	26002	broad.mit.edu	37	6	132695900	132695900	+	Missense_Mutation	SNP	G	G	A	rs146200701		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132695900G>A	ENST00000367963.3	-	2	399	c.281C>T	c.(280-282)gCa>gTa	p.A94V	MOXD1_ENST00000336749.3_Missense_Mutation_p.A26V	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	94	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.A94V(1)|p.A26V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTCTCTATTTGCATTTGTAAA	0.328																																					p.A94V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C281T	6						.	G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	115.0	111.0	112.0		281	1.6	1.0	6	dbSNP_134	112	0,8598		0,0,4299	no	missense	MOXD1	NM_015529.2	64	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	94/614	132695900	2,13002	2203	4299	6502	132737593	SO:0001583	missense	26002	exon2			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.281C>T	6.37:g.132695900G>A	ENSP00000356940:p.Ala94Val		132737593	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718399	0.48622	4.54E-4	0.0	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.77098	-1.07;-1.07	5.62	1.63	0.23807	DOMON domain (3);	0.495547	0.20972	N	0.082368	T	0.65238	0.2672	M	0.73962	2.25	0.80722	D	1	B;B	0.27765	0.188;0.082	B;B	0.39119	0.291;0.035	T	0.64947	-0.6287	10	0.45353	T	0.12	-28.3031	3.5679	0.07907	0.1357:0.0986:0.4567:0.309	.	94;26	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	V	94;26	ENSP00000356940:A94V;ENSP00000336998:A26V	ENSP00000336998:A26V	A	-	2	0	MOXD1	132737593	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.715000	0.25822	0.727000	0.32360	-0.136000	0.14681	GCA		0.328	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
TAAR9	134860	broad.mit.edu	37	6	132860310	132860310	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132860310G>T	ENST00000434551.1	+	0	882					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATGTTTATGAGATTTTAGTTT	0.348																																					p.E294D	Colon(10;433 445 15992 45047 47213)											.	.	0			c.G882T	6						.						99.0	92.0	94.0					6																	132860310		1858	4110	5968	132902003			134860	exon1			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860310G>T			132902003	NM_175057		Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.348	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057	
TAAR9	134860	broad.mit.edu	37	6	132860453	132860453	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132860453C>A	ENST00000434551.1	+	0	1025					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AATTTATTTTCTGAAGAAGTA	0.338																																					p.S342Y	Colon(10;433 445 15992 45047 47213)											.	.	0			c.C1025A	6						.						39.0	34.0	36.0					6																	132860453		1829	4081	5910	132902146			134860	exon1			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860453C>A			132902146	NM_175057		Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.338	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057	
TAAR8	83551	broad.mit.edu	37	6	132874763	132874763	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132874763C>T	ENST00000275200.1	+	1	932	c.932C>T	c.(931-933)gCt>gTt	p.A311V		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A311V(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTGATTTATGCTCTATTTTAT	0.328																																					p.A311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	6						.						108.0	113.0	111.0					6																	132874763		2203	4300	6503	132916456	SO:0001583	missense	83551	exon1			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.932C>T	6.37:g.132874763C>T	ENSP00000275200:p.Ala311Val		132916456	NM_053278	Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153058	0.57259	.	.	ENSG00000146385	ENST00000275200	T	0.38560	1.13	4.58	3.64	0.41730	.	0.104931	0.34853	N	0.003632	T	0.52789	0.1756	M	0.78285	2.405	0.31668	N	0.644742	P	0.47841	0.901	P	0.61397	0.888	T	0.49390	-0.8945	10	0.39692	T	0.17	-13.0216	16.093	0.81102	0.0:0.8042:0.1958:0.0	.	311	Q969N4	TAAR8_HUMAN	V	311	ENSP00000275200:A311V	ENSP00000275200:A311V	A	+	2	0	TAAR8	132916456	0.045000	0.20229	1.000000	0.80357	0.930000	0.56654	0.481000	0.22260	2.524000	0.85096	0.561000	0.74099	GCT		0.328	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278	
TAAR6	319100	broad.mit.edu	37	6	132891697	132891697	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132891697C>A	ENST00000275198.1	+	1	237	c.237C>A	c.(235-237)ttC>ttA	p.F79L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	79					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.F79L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCGCTGATTTCTTGGTGGGTG	0.507																																					p.F79L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C237A	6						.						173.0	155.0	161.0					6																	132891697		2203	4300	6503	132933390	SO:0001583	missense	319100	exon1			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.237C>A	6.37:g.132891697C>A	ENSP00000275198:p.Phe79Leu		132933390	NM_175067	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298388	0.10622	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.26660	1.72	4.99	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.111853	0.36854	N	0.002379	T	0.03095	0.0091	N	0.16037	0.36	0.19775	N	0.999959	B	0.06786	0.001	B	0.15484	0.013	T	0.36504	-0.9745	10	0.13853	T	0.58	-2.972	12.2446	0.54563	0.0:0.3646:0.0788:0.5566	.	79	Q96RI8	TAAR6_HUMAN	L	79;62	ENSP00000275198:F79L	ENSP00000275198:F79L	F	+	3	2	TAAR6	132933390	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-3.477000	0.00458	-1.580000	0.01644	-0.253000	0.11424	TTC		0.507	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
TAAR6	319100	broad.mit.edu	37	6	132892150	132892150	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132892150G>T	ENST00000275198.1	+	1	690	c.690G>T	c.(688-690)aaG>aaT	p.K230N		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	230					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.K230N(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGCGAAAAAGATAGAAAATA	0.413																																					p.K230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	6						.						60.0	61.0	60.0					6																	132892150		2203	4300	6503	132933843	SO:0001583	missense	319100	exon1			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.690G>T	6.37:g.132892150G>T	ENSP00000275198:p.Lys230Asn		132933843	NM_175067	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	3.055	-0.194434	0.06259	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.73363	-0.74	4.87	-0.0908	0.13663	GPCR, rhodopsin-like superfamily (1);	0.262894	0.27513	N	0.019034	T	0.41166	0.1147	L	0.58925	1.835	0.19300	N	0.99998	B	0.14438	0.01	B	0.23852	0.049	T	0.33650	-0.9860	10	0.28530	T	0.3	-12.1813	1.251	0.01982	0.2585:0.1091:0.4091:0.2234	.	230	Q96RI8	TAAR6_HUMAN	N	230;213	ENSP00000275198:K230N	ENSP00000275198:K230N	K	+	3	2	TAAR6	132933843	0.000000	0.05858	0.014000	0.15608	0.174000	0.22865	-0.327000	0.07955	-0.217000	0.10033	0.650000	0.86243	AAG		0.413	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
TAAR1	134864	broad.mit.edu	37	6	132967108	132967108	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:132967108G>A	ENST00000275216.1	-	1	34	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	12					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S12F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TTTCACACAGGAAATATTAAT	0.378																																					p.S12F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C35T	6						.						160.0	162.0	162.0					6																	132967108		2203	4299	6502	133008801	SO:0001583	missense	134864	exon1			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.35C>T	6.37:g.132967108G>A	ENSP00000275216:p.Ser12Phe		133008801	NM_138327	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775913	0.70107	.	.	ENSG00000146399	ENST00000275216	T	0.57907	0.37	5.51	4.65	0.58169	.	0.058444	0.64402	D	0.000002	T	0.66237	0.2769	M	0.80332	2.49	0.46396	D	0.999022	D	0.89917	1.0	D	0.72982	0.979	T	0.73603	-0.3930	10	0.87932	D	0	-14.1303	14.2441	0.65975	0.0719:0.0:0.9281:0.0	.	12	Q96RJ0	TAAR1_HUMAN	F	12	ENSP00000275216:S12F	ENSP00000275216:S12F	S	-	2	0	TAAR1	133008801	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	3.871000	0.56077	1.333000	0.45449	0.555000	0.69702	TCC		0.378	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
VNN1	8876	broad.mit.edu	37	6	133004348	133004348	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:133004348G>A	ENST00000367928.4	-	7	1486	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	491					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.G491G(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGCTGTGAGGCCTGATGAAG	0.393																																					p.G491G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473T	6						.						147.0	134.0	138.0					6																	133004348		2203	4300	6503	133046041	SO:0001819	synonymous_variant	8876	exon7			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1473C>T	6.37:g.133004348G>A			133046041	NM_004666	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	CCDS5159.1																																																																																				0.393	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
VNN2	8875	broad.mit.edu	37	6	133072586	133072586	+	Missense_Mutation	SNP	G	G	T	rs35700463		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:133072586G>T	ENST00000326499.6	-	5	1022	c.898C>A	c.(898-900)Ctc>Atc	p.L300I	VNN2_ENST00000526192.1_5'Flank|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.L247I	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	300	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.L300I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCTGAAAGGAGAAGTTTTCCC	0.428																																					p.L300I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898A	6						.						73.0	72.0	73.0					6																	133072586		2202	4286	6488	133114279	SO:0001583	missense	8875	exon5			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.898C>A	6.37:g.133072586G>T	ENSP00000322276:p.Leu300Ile		133114279	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360228	0.24598	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.88431	-2.38;-2.38	5.56	2.68	0.31781	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.102660	0.42172	D	0.000754	T	0.77039	0.4072	L	0.57536	1.79	0.27367	N	0.955808	P	0.42203	0.773	B	0.42214	0.38	T	0.67593	-0.5631	10	0.33141	T	0.24	-13.3196	7.2964	0.26395	0.1169:0.0:0.5383:0.3448	.	300	O95498	VNN2_HUMAN	I	300;247	ENSP00000322276:L300I;ENSP00000436822:L247I	ENSP00000322276:L300I	L	-	1	0	VNN2	133114279	0.000000	0.05858	0.007000	0.13788	0.023000	0.10783	-0.351000	0.07711	0.760000	0.33108	0.609000	0.83330	CTC		0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
EYA4	2070	broad.mit.edu	37	6	133767875	133767875	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:133767875C>A	ENST00000367895.5	+	4	655	c.191C>A	c.(190-192)aCt>aAt	p.T64N	EYA4_ENST00000430974.2_Missense_Mutation_p.T64N|EYA4_ENST00000355167.3_Missense_Mutation_p.T64N|EYA4_ENST00000355286.6_Missense_Mutation_p.T64N|EYA4_ENST00000431403.2_Missense_Mutation_p.T64N|EYA4_ENST00000531901.1_Missense_Mutation_p.T64N|EYA4_ENST00000525849.1_Missense_Mutation_p.T64N|EYA4_ENST00000452339.2_Missense_Mutation_p.T64N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	64					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.T64N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		ACATCAGTTACTACAAATGGG	0.393																																					p.T64N	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C191A	6						.						115.0	106.0	109.0					6																	133767875		2203	4300	6503	133809568	SO:0001583	missense	2070	exon4			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.191C>A	6.37:g.133767875C>A	ENSP00000356870:p.Thr64Asn		133809568	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453515	0.84209	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;D;D;T;D;T;D	0.87179	-0.31;-0.31;-2.22;-2.22;0.09;-2.22;0.09;-2.22	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D	0.76494	0.993;0.997;0.998;0.999;0.992;0.997	D;P;D;D;D;D	0.76575	0.956;0.854;0.973;0.988;0.931;0.959	D	0.89361	0.3668	10	0.45353	T	0.12	-2.1598	18.5374	0.91015	0.0:1.0:0.0:0.0	.	64;64;64;64;64;64	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	N	64	ENSP00000395916:T64N;ENSP00000388670:T64N;ENSP00000356870:T64N;ENSP00000347294:T64N;ENSP00000347434:T64N;ENSP00000432770:T64N;ENSP00000433219:T64N;ENSP00000404558:T64N	ENSP00000347294:T64N	T	+	2	0	EYA4	133809568	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.256000	0.78350	2.418000	0.82041	0.591000	0.81541	ACT		0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
TBC1D7	51256	broad.mit.edu	37	6	13306704	13306704	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:13306704C>T	ENST00000379300.3	-	7	964	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	TBC1D7_ENST00000356436.4_Missense_Mutation_p.E241K|TBC1D7_ENST00000607532.1_5'Flank|TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E214K|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E195K	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	241					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E241K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AATAAAATTTCGACAGCTACA	0.308																																					p.E241K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721A	6						.						66.0	74.0	71.0					6																	13306704		2203	4295	6498	13414683	SO:0001583	missense	51256	exon7			AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.721G>A	6.37:g.13306704C>T	ENSP00000368602:p.Glu241Lys		13414683	NM_001143965	E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	31	5.073744	0.94000	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136	T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.87	5.87	0.94306	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.986;0.994;0.999	P;P;D	0.63703	0.507;0.768;0.917	T	0.04454	-1.0950	10	0.41790	T	0.15	-24.4491	19.5705	0.95413	0.0:1.0:0.0:0.0	.	195;214;241	Q2TU37;Q9P0N9-2;Q9P0N9	.;.;TBCD7_HUMAN	K	182;241;241;214;195;214;214;241	ENSP00000348813:E241K;ENSP00000368602:E241K;ENSP00000368609:E214K;ENSP00000343100:E195K;ENSP00000414292:E214K;ENSP00000404680:E214K;ENSP00000394425:E241K	ENSP00000334212:E182K	E	-	1	0	TBC1D7	13414683	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.908000	0.75730	2.941000	0.99782	0.655000	0.94253	GAA		0.308	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495	
EYA4	2070	broad.mit.edu	37	6	133827283	133827283	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:133827283G>T	ENST00000367895.5	+	14	1695	c.1231G>T	c.(1231-1233)Gaa>Taa	p.E411*	EYA4_ENST00000430974.2_Nonsense_Mutation_p.E363*|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Nonsense_Mutation_p.E411*|EYA4_ENST00000355286.6_Nonsense_Mutation_p.E388*|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000431403.2_Nonsense_Mutation_p.E411*|EYA4_ENST00000531901.1_Nonsense_Mutation_p.E417*|EYA4_ENST00000525849.1_Nonsense_Mutation_p.E388*|EYA4_ENST00000452339.2_Nonsense_Mutation_p.E357*	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	411					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.E411*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCGCATGGAAGAAATGATTTT	0.338																																					p.E388X	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1162T	6						.						80.0	81.0	81.0					6																	133827283		2203	4300	6503	133868976	SO:0001587	stop_gained	2070	exon13			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1231G>T	6.37:g.133827283G>T	ENSP00000356870:p.Glu411*		133868976	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Nonsense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	41	8.933363	0.99008	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	.	.	.	5.63	3.75	0.43078	.	0.087568	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.114	11.1147	0.48254	0.0687:0.0:0.8029:0.1284	.	.	.	.	X	357;363;411;411;388;417;388;411	.	ENSP00000347294:E411X	E	+	1	0	EYA4	133868976	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.271000	0.78506	1.523000	0.49018	0.650000	0.86243	GAA		0.338	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
SLC2A12	154091	broad.mit.edu	37	6	134328047	134328047	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:134328047G>T	ENST00000275230.5	-	3	1625	c.1470C>A	c.(1468-1470)atC>atA	p.I490I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	490					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.I490I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CACCAGGAAAGATCTCGCTGA	0.507																																					p.I490I	Melanoma(122;1663 1672 14489 35294 41228)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470A	6						.						111.0	93.0	99.0					6																	134328047		2203	4300	6503	134369740	SO:0001819	synonymous_variant	154091	exon3			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1470C>A	6.37:g.134328047G>T			134369740	NM_145176	B3KV17|Q7Z6U3|Q96MR8	Silent	SNP	ENST00000275230.5	37	CCDS5169.1																																																																																				0.507	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1		
SGK1	6446	broad.mit.edu	37	6	134492033	134492033	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:134492033G>T	ENST00000237305.7	-	11	1147	c.1059C>A	c.(1057-1059)gtC>gtA	p.V353V	SGK1_ENST00000367858.5_Silent_p.V448V|SGK1_ENST00000475719.2_Silent_p.V309V|SGK1_ENST00000367857.5_Silent_p.V343V|SGK1_ENST00000528577.1_Silent_p.V381V|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000413996.3_Silent_p.V367V	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.V353V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGGAGAAGAAGACATGACTCT	0.418																																					p.V448V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1344A	6						.						100.0	108.0	105.0					6																	134492033		2203	4300	6503	134533726	SO:0001819	synonymous_variant	6446	exon13			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1059C>A	6.37:g.134492033G>T			134533726	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	CCDS5170.1																																																																																				0.418	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
SGK1	6446	broad.mit.edu	37	6	134498882	134498882	+	5'Flank	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:134498882C>T	ENST00000237305.7	-	0	0				SGK1_ENST00000367858.5_Intron|SGK1_ENST00000475719.2_5'Flank|SGK1_ENST00000367857.5_5'Flank|SGK1_ENST00000528577.1_Missense_Mutation_p.A27T|SGK1_ENST00000413996.3_5'Flank	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.A27T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTTCTGGAGGCTGGAGGTAGA	0.498																																					p.A27T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	6						.						119.0	109.0	112.0					6																	134498882		1568	3582	5150	134540575	SO:0001631	upstream_gene_variant	6446	exon1			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613		6.37:g.134498882C>T	Exception_encountered		134540575	NM_001143677	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Intron	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030485	0.54790	.	.	ENSG00000118515	ENST00000528577	T	0.72167	-0.63	5.84	-1.0	0.10196	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	8	0.31617	T	0.26	.	6.3804	0.21531	0.0:0.1824:0.157:0.6606	.	27	O00141-5	.	T	27	ENSP00000434450:A27T	ENSP00000434450:A27T	A	-	1	0	SGK1	134540575	0.964000	0.33143	0.000000	0.03702	0.514000	0.34195	-0.193000	0.09573	-0.406000	0.07588	0.655000	0.94253	GCC		0.498	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
MYB	4602	broad.mit.edu	37	6	135511466	135511466	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:135511466G>A	ENST00000367814.4	+	5	694	c.508G>A	c.(508-510)Gca>Aca	p.A170T	MYB_ENST00000525369.1_Missense_Mutation_p.A170T|MYB_ENST00000528774.1_Missense_Mutation_p.A170T|MYB_ENST00000533624.1_Missense_Mutation_p.A170T|MYB_ENST00000316528.8_Missense_Mutation_p.A170T|MYB_ENST00000534044.1_Missense_Mutation_p.A170T|MYB_ENST00000442647.2_Missense_Mutation_p.A170T|MYB_ENST00000341911.5_Missense_Mutation_p.A170T|MYB_ENST00000534121.1_Missense_Mutation_p.A170T|MYB_ENST00000527615.1_Missense_Mutation_p.A170T|MYB_ENST00000420123.2_Missense_Mutation_p.A146T|MYB_ENST00000531845.1_3'UTR	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	170	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A170T(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGCAGAAATCGCAAAGCTACT	0.418			T	NFIB	adenoid cystic carcinoma																																p.A170T			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G508A	6						.						55.0	58.0	57.0					6																	135511466		2203	4300	6503	135553159	SO:0001583	missense	4602	exon5				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.508G>A	6.37:g.135511466G>A	ENSP00000356788:p.Ala170Thr		135553159	NM_001161657	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037006	0.93630	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.93	5.93	0.95920	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.74061	0.3667	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.77004	0.983;0.961;0.983;0.975;0.974;0.802;0.983;0.949;0.989	T	0.76817	-0.2819	10	0.87932	D	0	-14.1146	20.3311	0.98718	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170;170	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	T	170;170;170;170;170;170;146;170;170;170;170;170;124	ENSP00000339992:A170T;ENSP00000410825:A170T;ENSP00000326328:A170T;ENSP00000356788:A170T;ENSP00000433227:A170T;ENSP00000435938:A170T;ENSP00000434723:A170T;ENSP00000432851:A170T;ENSP00000435055:A170T;ENSP00000436605:A170T	ENSP00000237302:A170T	A	+	1	0	MYB	135553159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	GCA		0.418	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
AHI1	54806	broad.mit.edu	37	6	135621647	135621647	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:135621647G>T	ENST00000367800.4	-	25	3692	c.3476C>A	c.(3475-3477)tCt>tAt	p.S1159Y	AHI1_ENST00000457866.2_Missense_Mutation_p.S1159Y|RP3-388E23.2_ENST00000444302.1_RNA|AHI1_ENST00000417892.2_3'UTR	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1159					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.S1159Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTGTGTCATAGATTCTGAGCC	0.318																																					p.S1159Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3476A	6						.						121.0	111.0	114.0					6																	135621647		1820	4076	5896	135663340	SO:0001583	missense	54806	exon26			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3476C>A	6.37:g.135621647G>T	ENSP00000356774:p.Ser1159Tyr		135663340	NM_017651	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.414|3.414	-0.119543|-0.119543	0.06838|0.06838	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000265602	.|T;T;T	.|0.58358	.|0.34;0.34;0.34	5.78|5.78	3.99|3.99	0.46301|0.46301	.|.	.|0.395100	.|0.24178	.|N	.|0.040833	T|T	0.21801|0.21801	0.0525|0.0525	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.999953|0.999953	.|D;P	.|0.56521	.|0.976;0.79	.|P;B	.|0.47744	.|0.556;0.365	T|T	0.04191|0.04191	-1.0970|-1.0970	5|10	.|0.51188	.|T	.|0.08	-0.204|-0.204	7.8284|7.8284	0.29328|0.29328	0.0856:0.1634:0.751:0.0|0.0856:0.1634:0.751:0.0	.|.	.|1159;1159	.|Q8N157;Q4FD35	.|AHI1_HUMAN;.	I|Y	659|1159	.|ENSP00000356774:S1159Y;ENSP00000388650:S1159Y;ENSP00000265602:S1159Y	.|ENSP00000265602:S1159Y	L|S	-|-	1|2	2|0	AHI1|AHI1	135663340|135663340	0.574000|0.574000	0.26684|0.26684	0.002000|0.002000	0.10522|0.10522	0.117000|0.117000	0.20001|0.20001	2.024000|2.024000	0.41049|0.41049	0.800000|0.800000	0.34041|0.34041	-0.181000|-0.181000	0.13052|0.13052	CTA|TCT		0.318	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
AHI1	54806	broad.mit.edu	37	6	135778680	135778680	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:135778680A>C	ENST00000367800.4	-	7	1319	c.1103T>G	c.(1102-1104)aTt>aGt	p.I368S	AHI1_ENST00000457866.2_Missense_Mutation_p.I368S|AHI1_ENST00000327035.6_Missense_Mutation_p.I368S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	368	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.I368S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AACCACATGAATTTTTACCAT	0.338																																					p.I368S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1103G	6						.						99.0	90.0	93.0					6																	135778680		1851	4093	5944	135820373	SO:0001583	missense	54806	exon8			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1103T>G	6.37:g.135778680A>C	ENSP00000356774:p.Ile368Ser		135820373	NM_017651	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423745	0.83667	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	T;T;T;T	0.64618	-0.04;-0.04;-0.04;-0.11	5.48	5.48	0.80851	.	0.054681	0.64402	D	0.000001	T	0.72439	0.3460	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.76987	-0.2755	10	0.87932	D	0	-20.5623	15.5818	0.76448	1.0:0.0:0.0:0.0	.	368;368	Q8N157-2;Q8N157	.;AHI1_HUMAN	S	368	ENSP00000356774:I368S;ENSP00000388650:I368S;ENSP00000265602:I368S;ENSP00000322478:I368S	ENSP00000265602:I368S	I	-	2	0	AHI1	135820373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.474000	0.90413	2.077000	0.62373	0.455000	0.32223	ATT		0.338	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
AHI1	54806	broad.mit.edu	37	6	135811801	135811801	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:135811801T>G	ENST00000367800.4	-	3	311	c.95A>C	c.(94-96)aAa>aCa	p.K32T	AHI1_ENST00000457866.2_Missense_Mutation_p.K32T|AHI1_ENST00000528103.1_Missense_Mutation_p.K32T|AHI1_ENST00000534469.1_Missense_Mutation_p.K32T|AHI1_ENST00000488690.2_Missense_Mutation_p.K32T|AHI1_ENST00000531527.1_5'Flank|AHI1_ENST00000327035.6_Missense_Mutation_p.K32T|AHI1_ENST00000367798.2_Missense_Mutation_p.K32T	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	32					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.K32T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTTCTTCAGTTTTTTCTTTTC	0.353																																					p.K32T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95C	6						.						202.0	187.0	192.0					6																	135811801		1824	4073	5897	135853494	SO:0001583	missense	54806	exon4			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.95A>C	6.37:g.135811801T>G	ENSP00000356774:p.Lys32Thr		135853494	NM_017651	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	9.160	1.018519	0.19355	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469;ENST00000488690;ENST00000367798;ENST00000528103;ENST00000534469	T;T;T;T;T	0.57907	0.96;0.96;0.96;0.96;0.37	4.97	2.51	0.30379	.	0.344757	0.24474	N	0.038216	T	0.40272	0.1110	L	0.54323	1.7	0.38647	D	0.951754	P;P	0.44429	0.835;0.745	P;B	0.49999	0.628;0.425	T	0.41734	-0.9492	10	0.87932	D	0	-14.1057	6.3116	0.21169	0.0:0.2284:0.0:0.7716	.	32;32	Q8N157-2;Q8N157	.;AHI1_HUMAN	T	32	ENSP00000356774:K32T;ENSP00000388650:K32T;ENSP00000265602:K32T;ENSP00000322478:K32T;ENSP00000433063:K32T	ENSP00000265602:K32T	K	-	2	0	AHI1	135853494	0.992000	0.36948	0.993000	0.49108	0.165000	0.22458	1.329000	0.33770	0.732000	0.32470	0.455000	0.32223	AAA		0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
BCLAF1	9774	broad.mit.edu	37	6	136589371	136589371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:136589371C>A	ENST00000531224.1	-	10	2578	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.E776*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.E774*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.E603*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	776					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E776*(2)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTTAAATTCTTCTTCTCTT	0.383																																					p.E776X	Colon(142;1534 1789 5427 7063 28491)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2326T	6						.						175.0	162.0	167.0					6																	136589371		2203	4300	6503	136631064	SO:0001587	stop_gained	9774	exon10			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2326G>T	6.37:g.136589371C>A	ENSP00000435210:p.Glu776*		136631064	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.208172|9.208172	0.99101|0.99101	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348|ENST00000534762	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	.|T	.|0.54791	.|0.1880	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54523	.|-0.8281	.|4	0.12430|.	T|.	0.62|.	-11.1231|-11.1231	12.4947|12.4947	0.55921|0.55921	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	.|.	.|.	.|.	X|I	776;774;776;603;774;774|42	.|.	ENSP00000229446:E774X|.	E|R	-|-	1|2	0|0	BCLAF1|BCLAF1	136631064|136631064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.166000|3.166000	0.50785|0.50785	2.549000|2.549000	0.85964|0.85964	0.484000|0.484000	0.47621|0.47621	GAA|AGA		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
BCLAF1	9774	broad.mit.edu	37	6	136597534	136597534	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:136597534C>A	ENST00000531224.1	-	5	1381	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D375Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D375Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D377Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D375Y|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	377					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.D377Y(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)		GCTTCCTGATCTTCCCATTCT	0.423																																					p.D377Y	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1129T	6						.						222.0	239.0	233.0					6																	136597534		2203	4297	6500	136639227	SO:0001583	missense	9774	exon5			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.1129G>T	6.37:g.136597534C>A	ENSP00000435210:p.Asp377Tyr		136639227	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608099	0.46527	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.11067	0.0270	N	0.22421	0.69	0.80722	D	1	P;P;P	0.41848	0.763;0.763;0.763	P;P;P	0.44359	0.447;0.447;0.447	T	0.05007	-1.0912	10	0.45353	T	0.12	-14.1837	19.8217	0.96599	0.0:1.0:0.0:0.0	.	375;375;377	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	Y	377;375;377;375;375;377	ENSP00000435210:D377Y;ENSP00000229446:D375Y;ENSP00000435441:D377Y;ENSP00000434826:D375Y;ENSP00000376159:D375Y;ENSP00000431734:D377Y	ENSP00000229446:D375Y	D	-	1	0	BCLAF1	136639227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.194000	0.58393	2.775000	0.95449	0.650000	0.86243	GAT		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
MAP7	9053	broad.mit.edu	37	6	136686974	136686974	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:136686974T>G	ENST00000354570.3	-	10	1582	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	MAP7_ENST00000438100.2_Missense_Mutation_p.K376T|MAP7_ENST00000544465.1_Missense_Mutation_p.K376T|MAP7_ENST00000432797.2_Missense_Mutation_p.K245T|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000454590.1_Missense_Mutation_p.K413T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	391	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.K391T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		ATTGGCAACTTTCTGAGGTTC	0.552																																					p.K413T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1238C	6						.						86.0	88.0	87.0					6																	136686974		2203	4300	6503	136728667	SO:0001583	missense	9053	exon11			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1172A>C	6.37:g.136686974T>G	ENSP00000346581:p.Lys391Thr		136728667	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761260	0.31137	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	5.72	1.88	0.25563	.	0.572415	0.16822	N	0.198132	T	0.01905	0.0060	L	0.48362	1.52	0.32402	N	0.551785	B;B;B;B;B;B;B	0.23377	0.007;0.007;0.011;0.007;0.084;0.021;0.012	B;B;B;B;B;B;B	0.21917	0.006;0.006;0.015;0.006;0.037;0.037;0.011	T	0.45220	-0.9276	10	0.25106	T	0.35	-5.4656	7.2384	0.26082	0.0:0.0705:0.2769:0.6526	.	376;413;376;413;297;354;391	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	T	391;413;376;376;245;297	ENSP00000346581:K391T;ENSP00000414712:K413T;ENSP00000445737:K376T;ENSP00000400790:K376T;ENSP00000414879:K245T	ENSP00000344217:K297T	K	-	2	0	MAP7	136728667	0.503000	0.26115	0.080000	0.20451	0.998000	0.95712	0.661000	0.25023	0.084000	0.17077	0.528000	0.53228	AAA		0.552	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
SIRT5	23408	broad.mit.edu	37	6	13604714	13604714	+	Missense_Mutation	SNP	G	G	T	rs199651501		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:13604714G>T	ENST00000379262.4	+	10	1082	c.864G>T	c.(862-864)ttG>ttT	p.L288F	SIRT5_ENST00000606117.1_Intron|SIRT5_ENST00000359782.3_Intron|SIRT5_ENST00000397350.2_Intron	NM_031244.3	NP_112534.1			sirtuin 5									p.L288F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TCAGTCATTTGATCTCCATCT	0.348																																					p.L288F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G864T	6						.						117.0	119.0	118.0					6																	13604714		2203	4300	6503	13712693	SO:0001583	missense	23408	exon10			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000379262.4:c.864G>T	6.37:g.13604714G>T	ENSP00000368564:p.Leu288Phe		13712693	NM_031244		Intron	SNP	ENST00000379262.4	37	CCDS4527.1	.	.	.	.	.	.	.	.	.	.	G	5.004	0.186360	0.09495	.	.	ENSG00000124523	ENST00000379262	T	0.44083	0.93	2.17	1.23	0.21249	.	.	.	.	.	T	0.06462	0.0166	.	.	.	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.42275	-0.9461	8	0.09590	T	0.72	.	6.447	0.21882	0.0:0.3091:0.6909:0.0	.	288	Q9NXA8-2	.	F	288	ENSP00000368564:L288F	ENSP00000368564:L288F	L	+	3	2	SIRT5	13712693	0.007000	0.16637	0.003000	0.11579	0.009000	0.06853	2.061000	0.41403	0.451000	0.26802	0.467000	0.42956	TTG		0.348	SIRT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039907.1		
MAP3K5	4217	broad.mit.edu	37	6	136958511	136958511	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:136958511C>A	ENST00000359015.4	-	14	2328	c.1968G>T	c.(1966-1968)gaG>gaT	p.E656D	MAP3K5_ENST00000355845.4_5'UTR|RP3-325F22.3_ENST00000432477.1_RNA	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	656					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.E656D(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCTCCCCTTCTCTTCGGTAA	0.378																																					p.E656D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1968T	6						.						171.0	137.0	148.0					6																	136958511		2203	4300	6503	137000204	SO:0001583	missense	4217	exon14			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1968G>T	6.37:g.136958511C>A	ENSP00000351908:p.Glu656Asp		137000204	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	7.299	0.612666	0.14066	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.69685	-0.42	5.69	2.43	0.29744	.	0.193032	0.53938	D	0.000059	T	0.30135	0.0755	L	0.54323	1.7	0.80722	D	1	B;B	0.29378	0.243;0.009	B;B	0.28465	0.09;0.007	T	0.39231	-0.9624	10	0.02654	T	1	.	5.3151	0.15850	0.0:0.5877:0.1668:0.2454	.	736;656	Q59GL6;Q99683	.;M3K5_HUMAN	D	656;736	ENSP00000351908:E656D	ENSP00000351908:E656D	E	-	3	2	MAP3K5	137000204	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.218000	0.17622	0.857000	0.35407	0.591000	0.81541	GAG		0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
IL20RA	53832	broad.mit.edu	37	6	137323365	137323365	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:137323365C>A	ENST00000316649.5	-	7	1227	c.992G>T	c.(991-993)gGa>gTa	p.G331V	IL20RA_ENST00000367748.1_Missense_Mutation_p.G220V|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000541547.1_Missense_Mutation_p.G282V|RP11-204P2.3_ENST00000458017.1_RNA	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	331					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.G331V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ACTGCTTTTTCCCAGTAAACT	0.433																																					p.G331V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G992T	6						.						52.0	56.0	55.0					6																	137323365		2203	4300	6503	137365058	SO:0001583	missense	53832	exon7			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.992G>T	6.37:g.137323365C>A	ENSP00000314976:p.Gly331Val		137365058	NM_014432	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822423	0.50739	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.60299	0.47;1.94;0.2	5.75	0.346	0.16017	.	0.970208	0.08522	N	0.933340	T	0.21227	0.0511	L	0.29908	0.895	0.21064	N	0.999797	P;P	0.49961	0.899;0.93	B;B	0.41571	0.299;0.36	T	0.08994	-1.0695	10	0.14656	T	0.56	-3.5397	9.1654	0.37048	0.0:0.3572:0.0:0.6428	.	220;331	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	331;220;282	ENSP00000314976:G331V;ENSP00000356722:G220V;ENSP00000437843:G282V	ENSP00000314976:G331V	G	-	2	0	IL20RA	137365058	0.000000	0.05858	0.015000	0.15790	0.181000	0.23173	-0.479000	0.06567	0.131000	0.18576	-0.471000	0.05019	GGA		0.433	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
IFNGR1	3459	broad.mit.edu	37	6	137525525	137525525	+	Missense_Mutation	SNP	C	C	T	rs146687518		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:137525525C>T	ENST00000367739.4	-	4	611	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IFNGR1_ENST00000543628.1_Missense_Mutation_p.E136K|IFNGR1_ENST00000367735.2_Missense_Mutation_p.E154K|IFNGR1_ENST00000478333.1_5'Flank	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	164					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.E164K(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CAGGTAGTTTCGGGATCATAA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		21320	0.0		0.0	False		,,,				2504	0.001				p.E164K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	6						.	C	LYS/GLU	0,4406		0,0,2203	181.0	161.0	168.0		490	5.4	0.0	6	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFNGR1	NM_000416.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	164/490	137525525	1,13005	2203	4300	6503	137567218	SO:0001583	missense	3459	exon4				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.490G>A	6.37:g.137525525C>T	ENSP00000356713:p.Glu164Lys		137567218	NM_000416	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945598	0.53079	0.0	1.16E-4	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.36	5.36	0.76844	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.662303	0.15694	N	0.249281	T	0.28499	0.0705	L	0.60455	1.87	0.09310	N	1	D;P;D	0.55605	0.972;0.936;0.959	B;B;B	0.42214	0.158;0.143;0.38	T	0.16394	-1.0404	10	0.51188	T	0.08	-6.404	14.5865	0.68328	0.0:1.0:0.0:0.0	.	154;136;164	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	K	164;164;136;130;154;154	ENSP00000356713:E164K;ENSP00000443282:E136K;ENSP00000389249:E130K;ENSP00000356709:E154K;ENSP00000394230:E154K	ENSP00000356709:E154K	E	-	1	0	IFNGR1	137567218	0.042000	0.20092	0.008000	0.14137	0.001000	0.01503	1.921000	0.40035	2.494000	0.84150	0.655000	0.94253	GAA		0.373	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
KIAA1244	57221	broad.mit.edu	37	6	138576826	138576826	+	Missense_Mutation	SNP	G	G	A	rs141449825		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:138576826G>A	ENST00000251691.4	+	10	1190	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_020340.4	NP_065073.3			KIAA1244									p.V271M(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGAAGCCCGTGCTCCAGTC	0.617																																					p.V342M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	6						.	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	23.0	23.0	23.0		1024	4.8	0.9	6	dbSNP_134	23	0,8600		0,0,4300	no	missense	KIAA1244	NM_020340.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	342/2178	138576826	1,13005	2203	4300	6503	138618519	SO:0001583	missense	57221	exon10			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1024G>A	6.37:g.138576826G>A	ENSP00000251691:p.Val342Met		138618519	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775065	0.70107	2.27E-4	0.0	ENSG00000112379	ENST00000251691	T	0.05258	3.47	5.68	4.82	0.62117	.	0.059279	0.64402	D	0.000002	T	0.02970	0.0088	L	0.46157	1.445	0.53688	D	0.999979	P	0.35077	0.483	B	0.21546	0.035	T	0.32025	-0.9922	10	0.87932	D	0	-27.7221	14.7436	0.69474	0.0695:0.0:0.9305:0.0	.	342	Q5TH69	BIG3_HUMAN	M	342	ENSP00000251691:V342M	ENSP00000251691:V342M	V	+	1	0	KIAA1244	138618519	1.000000	0.71417	0.920000	0.36463	0.951000	0.60555	8.007000	0.88571	1.420000	0.47138	0.655000	0.94253	GTG		0.617	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1244	57221	broad.mit.edu	37	6	138584581	138584581	+	Missense_Mutation	SNP	G	G	A	rs374061664		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:138584581G>A	ENST00000251691.4	+	12	2127	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q		NM_020340.4	NP_065073.3			KIAA1244									p.R583Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGTCCCTGCGAACTGCCGCC	0.617																																					p.R654Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1961A	6						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	66.0	64.0		1961	5.5	0.9	6		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	654/2178	138584581	2,13004	2203	4300	6503	138626274	SO:0001583	missense	57221	exon12			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1961G>A	6.37:g.138584581G>A	ENSP00000251691:p.Arg654Gln		138626274	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	31	5.088112	0.94100	2.27E-4	1.16E-4	ENSG00000112379	ENST00000251691	T	0.24350	1.86	5.47	5.47	0.80525	SEC7-like (1);	0.616769	0.14049	N	0.344886	T	0.41511	0.1162	L	0.57536	1.79	0.53005	D	0.99996	D	0.76494	0.999	D	0.72625	0.978	T	0.06391	-1.0829	10	0.40728	T	0.16	-1.0	19.3197	0.94233	0.0:0.0:1.0:0.0	.	654	Q5TH69	BIG3_HUMAN	Q	654	ENSP00000251691:R654Q	ENSP00000251691:R654Q	R	+	2	0	KIAA1244	138626274	1.000000	0.71417	0.918000	0.36340	0.945000	0.59286	9.496000	0.97967	2.569000	0.86673	0.655000	0.94253	CGA		0.617	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1244	57221	broad.mit.edu	37	6	138635034	138635034	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:138635034G>T	ENST00000251691.4	+	26	4469	c.4303G>T	c.(4303-4305)Gat>Tat	p.D1435Y		NM_020340.4	NP_065073.3			KIAA1244									p.D1364Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCAGTGAGGATGGAATTGA	0.438																																					p.D1435Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4303T	6						.						119.0	103.0	108.0					6																	138635034		2203	4300	6503	138676727	SO:0001583	missense	57221	exon26			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4303G>T	6.37:g.138635034G>T	ENSP00000251691:p.Asp1435Tyr		138676727	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505142	0.85282	.	.	ENSG00000112379	ENST00000251691	T	0.05786	3.39	5.03	5.03	0.67393	.	0.058672	0.64402	D	0.000002	T	0.14657	0.0354	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.01245	-1.1407	10	0.87932	D	0	-21.8746	18.3612	0.90375	0.0:0.0:1.0:0.0	.	1435	Q5TH69	BIG3_HUMAN	Y	1435	ENSP00000251691:D1435Y	ENSP00000251691:D1435Y	D	+	1	0	KIAA1244	138676727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.648000	0.91062	2.342000	0.79632	0.655000	0.94253	GAT		0.438	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
KIAA1244	57221	broad.mit.edu	37	6	138656288	138656288	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:138656288T>G	ENST00000251691.4	+	33	6471	c.6305T>G	c.(6304-6306)cTc>cGc	p.L2102R		NM_020340.4	NP_065073.3			KIAA1244									p.L2031R(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGGAGCTCCCTCAGTGTCTCG	0.642																																					p.L2102R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6305G	6						.						14.0	15.0	15.0					6																	138656288		2203	4300	6503	138697981	SO:0001583	missense	57221	exon33			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6305T>G	6.37:g.138656288T>G	ENSP00000251691:p.Leu2102Arg		138697981	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569701	0.28003	.	.	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.18338	2.22	5.76	3.37	0.38596	.	0.355744	0.30193	N	0.010194	T	0.03651	0.0104	N	0.17082	0.46	0.38703	D	0.953035	B	0.06786	0.001	B	0.06405	0.002	T	0.31530	-0.9940	10	0.18710	T	0.47	-26.3311	12.8316	0.57748	0.0:0.0:0.2989:0.7011	.	2102	Q5TH69	BIG3_HUMAN	R	2102;143	ENSP00000251691:L2102R	ENSP00000251691:L2102R	L	+	2	0	KIAA1244	138697981	1.000000	0.71417	0.923000	0.36655	0.914000	0.54420	3.749000	0.55150	0.439000	0.26476	0.418000	0.28097	CTC		0.642	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
MCUR1	63933	broad.mit.edu	37	6	13792179	13792179	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:13792179C>T	ENST00000379170.4	-	8	1093	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_001031713.3	NP_001026883.1	Q96AQ8	MCUR1_HUMAN	mitochondrial calcium uniporter regulator 1	319					calcium ion import (GO:0070509)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	integral component of mitochondrial inner membrane (GO:0031305)		p.E319K(1)									ACCTCAGTTTCGATCTTCCTG	0.438																																					p.E319K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	6						.						139.0	108.0	118.0					6																	13792179		2203	4300	6503	13900158	SO:0001583	missense	63933	exon8			BC016850	CCDS35495.1	6p23	2013-03-13	2013-03-13	2013-03-13	ENSG00000050393	ENSG00000050393			21097	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 79"", ""coiled-coil domain containing 90A"""	C6orf79, CCDC90A		23178883	Standard	NM_001031713		Approved	FLJ20958	uc003nbc.2	Q96AQ8	OTTHUMG00000014279	ENST00000379170.4:c.955G>A	6.37:g.13792179C>T	ENSP00000368468:p.Glu319Lys		13900158	NM_001031713	Q96JS7|Q9H7F8	Missense_Mutation	SNP	ENST00000379170.4	37	CCDS35495.1	.	.	.	.	.	.	.	.	.	.	C	35	5.481023	0.96307	.	.	ENSG00000050393	ENST00000379170	T	0.50813	0.73	5.42	5.42	0.78866	.	0.087388	0.85682	D	0.000000	T	0.54398	0.1856	L	0.57536	1.79	0.80722	D	1	D	0.64830	0.994	P	0.59357	0.856	T	0.52124	-0.8617	10	0.44086	T	0.13	-6.2727	18.006	0.89209	0.0:1.0:0.0:0.0	.	319	Q96AQ8	CC90A_HUMAN	K	319	ENSP00000368468:E319K	ENSP00000368468:E319K	E	-	1	0	CCDC90A	13900158	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	6.649000	0.74364	2.550000	0.86006	0.655000	0.94253	GAA		0.438	MCUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039909.3	NM_022102	
HEBP2	23593	broad.mit.edu	37	6	138734054	138734054	+	Nonsense_Mutation	SNP	G	G	T	rs34750897		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:138734054G>T	ENST00000607197.1	+	4	734	c.457G>T	c.(457-459)Gaa>Taa	p.E153*	HEBP2_ENST00000448741.1_Missense_Mutation_p.K124N|HEBP2_ENST00000367697.3_Missense_Mutation_p.K113N	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	153					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.E153*(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AAAGAATCAAGAACAACTTTT	0.373																																					p.E153X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G457T	6						.						151.0	148.0	149.0					6																	138734054		2203	4300	6503	138775747	SO:0001587	stop_gained	23593	exon4			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.457G>T	6.37:g.138734054G>T	ENSP00000475750:p.Glu153*		138775747	NM_014320	Q96P57	Nonsense_Mutation	SNP	ENST00000607197.1	37	CCDS5191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.757065|6.757065	0.97817|0.97817	.|.	.|.	ENSG00000051620|ENSG00000051620	ENST00000058691|ENST00000448741;ENST00000367697	.|T;T	.|0.22539	.|1.95;1.95	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.269694|.	0.41500|.	D|.	0.000880|.	.|T	.|0.31670	.|0.0804	.|.	.|.	.|.	0.34908|0.34908	D|D	0.747142|0.747142	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.06607	.|-1.0817	.|6	0.10636|0.72032	T|D	0.68|0.01	.|.	16.855|16.855	0.86003|0.86003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs34750897|rs34750897	.|.	.|.	.|.	X|N	153|124;113	.|ENSP00000392101:K124N;ENSP00000356670:K113N	ENSP00000058691:E153X|ENSP00000356670:K113N	E|K	+|+	1|3	0|2	HEBP2|HEBP2	138775747|138775747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.328000|6.328000	0.72915|0.72915	2.720000|2.720000	0.93068|0.93068	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.373	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2		
ECT2L	345930	broad.mit.edu	37	6	139202164	139202164	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:139202164G>T	ENST00000423192.1	+	14	1897	c.1736G>T	c.(1735-1737)aGa>aTa	p.R579I	ECT2L_ENST00000541398.1_Missense_Mutation_p.R510I|RP3-509I19.6_ENST00000572284.1_RNA|ECT2L_ENST00000367682.2_Missense_Mutation_p.R579I			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	579	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R579I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGAGTGAGAGAAAATACGTG	0.433			"""N, Splice, Mis"""		ETP ALL																																p.R579I			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1736T	6						.						110.0	103.0	105.0					6																	139202164		1922	4148	6070	139243857	SO:0001583	missense	345930	exon15				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1736G>T	6.37:g.139202164G>T	ENSP00000387388:p.Arg579Ile		139243857	NM_001077706	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712313	0.68730	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.67523	-0.27;-0.27;-0.27	5.53	5.53	0.82687	Dbl homology (DH) domain (5);	0.260319	0.22934	U	0.053861	T	0.72170	0.3427	M	0.61703	1.905	0.51767	D	0.999937	D;D	0.89917	0.999;1.0	D;D	0.79108	0.992;0.986	T	0.73994	-0.3807	10	0.52906	T	0.07	-4.9585	10.4802	0.44689	0.0887:0.0:0.9113:0.0	.	510;579	F5H7S9;Q008S8	.;ECT2L_HUMAN	I	579;579;510	ENSP00000387388:R579I;ENSP00000356655:R579I;ENSP00000442307:R510I	ENSP00000356655:R579I	R	+	2	0	ECT2L	139243857	0.998000	0.40836	0.956000	0.39512	0.887000	0.51463	2.746000	0.47467	2.609000	0.88269	0.655000	0.94253	AGA		0.433	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
ECT2L	345930	broad.mit.edu	37	6	139210149	139210149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:139210149G>T	ENST00000423192.1	+	19	2556	c.2395G>T	c.(2395-2397)Gaa>Taa	p.E799*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E653*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E799*			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	799							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E799*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTGATGAAGAAATAAGTTT	0.368			"""N, Splice, Mis"""		ETP ALL																																p.E799X			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2395T	6						.						93.0	94.0	94.0					6																	139210149		1868	4111	5979	139251842	SO:0001587	stop_gained	345930	exon20				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2395G>T	6.37:g.139210149G>T	ENSP00000387388:p.Glu799*		139251842	NM_001077706	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Nonsense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	39	7.476814	0.98309	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	.	.	.	4.86	3.98	0.46160	.	0.658638	0.11349	U	0.573192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.0845	7.1675	0.25700	0.2072:0.0:0.7928:0.0	.	.	.	.	X	799;799;653	.	ENSP00000356655:E799X	E	+	1	0	ECT2L	139251842	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	2.268000	0.43338	1.165000	0.42670	0.561000	0.74099	GAA		0.368	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
ECT2L	345930	broad.mit.edu	37	6	139223644	139223644	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:139223644G>A	ENST00000423192.1	+	21	2756	c.2595G>A	c.(2593-2595)aaG>aaA	p.K865K	ECT2L_ENST00000541398.1_Silent_p.K719K|ECT2L_ENST00000367682.2_Silent_p.K865K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	865							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K865K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGATGTCAAGAATGCATTTA	0.303			"""N, Splice, Mis"""		ETP ALL																																p.K865K			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2595A	6						.						79.0	76.0	77.0					6																	139223644		1805	4075	5880	139265337	SO:0001819	synonymous_variant	345930	exon22				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2595G>A	6.37:g.139223644G>A			139265337	NM_001077706	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	CCDS43508.1																																																																																				0.303	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
RNF182	221687	broad.mit.edu	37	6	13977507	13977507	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:13977507G>T	ENST00000488300.1	+	3	680	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	RNF182_ENST00000537663.1_Missense_Mutation_p.D53Y|RNF182_ENST00000537388.1_Missense_Mutation_p.D53Y|RNF182_ENST00000544682.1_Missense_Mutation_p.D53Y	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	53					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D53Y(1)		cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			CAAGATCATAGACTTTGGGGA	0.463																																					p.D53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157T	6						.						165.0	156.0	159.0					6																	13977507		2203	4300	6503	14085486	SO:0001583	missense	221687	exon4			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.157G>T	6.37:g.13977507G>T	ENSP00000420465:p.Asp53Tyr		14085486	NM_001165032	B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024815	0.75390	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000423553;ENST00000537388	D;D;D;T;T;D	0.86432	-2.12;-2.12;-2.12;-0.29;-0.29;-2.12	5.52	3.68	0.42216	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.405101	0.27253	N	0.020210	D	0.88463	0.6443	M	0.83483	2.645	0.52501	D	0.999956	P	0.51057	0.941	P	0.54174	0.744	D	0.88745	0.3246	9	.	.	.	-22.9684	11.3221	0.49428	0.0693:0.1265:0.8042:0.0	.	53	Q8N6D2	RN182_HUMAN	Y	53	ENSP00000443228:D53Y;ENSP00000420465:D53Y;ENSP00000442021:D53Y;ENSP00000419329:D53Y;ENSP00000418717:D53Y;ENSP00000441271:D53Y	.	D	+	1	0	RNF182	14085486	1.000000	0.71417	0.991000	0.47740	0.926000	0.56050	6.354000	0.73036	1.342000	0.45619	0.563000	0.77884	GAC		0.463	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737	
REPS1	85021	broad.mit.edu	37	6	139229911	139229911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:139229911G>A	ENST00000450536.2	-	18	2684	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	REPS1_ENST00000415951.2_Nonsense_Mutation_p.R645*|REPS1_ENST00000258062.5_Nonsense_Mutation_p.R703*|REPS1_ENST00000367663.4_Nonsense_Mutation_p.R677*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R613*			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	704	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R651*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATCTTCTTCGAACAGGTTTA	0.378																																					p.R703X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2107T	6						.						164.0	148.0	154.0					6																	139229911		2203	4300	6503	139271604	SO:0001587	stop_gained	85021	exon18				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2110C>T	6.37:g.139229911G>A	ENSP00000392065:p.Arg704*		139271604	NM_031922	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Nonsense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.449137	0.97577	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	.	.	.	5.35	2.57	0.30868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3038	8.537	0.33368	0.0679:0.0:0.5428:0.3893	.	.	.	.	X	704;677;662;613;703;645;652	.	ENSP00000258062:R703X	R	-	1	2	REPS1	139271604	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.200000	0.51051	0.373000	0.24621	-0.291000	0.09656	CGA		0.378	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
GPR126	57211	broad.mit.edu	37	6	142726906	142726906	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:142726906G>T	ENST00000230173.6	+	15	2685	c.2209G>T	c.(2209-2211)Gat>Tat	p.D737Y	GPR126_ENST00000367609.3_Missense_Mutation_p.D737Y|GPR126_ENST00000367608.2_Missense_Mutation_p.D709Y|GPR126_ENST00000296932.8_Missense_Mutation_p.D709Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	737					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D708Y(1)|p.D737Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAGTCCAGAAGATTCTGTATT	0.363																																					p.D709Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2125T	6						.						91.0	86.0	88.0					6																	142726906		1825	4077	5902	142768599	SO:0001583	missense	57211	exon14			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2209G>T	6.37:g.142726906G>T	ENSP00000230173:p.Asp737Tyr		142768599	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442327	0.63067	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.27402	1.67;1.67;1.68;1.67	5.79	4.92	0.64577	.	0.577602	0.17629	N	0.167463	T	0.40297	0.1111	L	0.56769	1.78	0.41804	D	0.989936	D;D;D;D	0.63046	0.992;0.983;0.992;0.986	D;P;D;P	0.64144	0.922;0.898;0.922;0.838	T	0.39663	-0.9603	10	0.87932	D	0	.	14.8813	0.70534	0.0688:0.0:0.9312:0.0	.	709;737;709;737	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	Y	737;709;709;737	ENSP00000230173:D737Y;ENSP00000356580:D709Y;ENSP00000296932:D709Y;ENSP00000356581:D737Y	ENSP00000230173:D737Y	D	+	1	0	GPR126	142768599	1.000000	0.71417	0.943000	0.38184	0.773000	0.43773	2.858000	0.48356	1.431000	0.47355	-0.140000	0.14226	GAT		0.363	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
GPR126	57211	broad.mit.edu	37	6	142738465	142738465	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:142738465C>A	ENST00000230173.6	+	21	3470	c.2994C>A	c.(2992-2994)gtC>gtA	p.V998V	GPR126_ENST00000367609.3_Silent_p.V998V|GPR126_ENST00000367608.2_Silent_p.V970V|GPR126_ENST00000296932.8_Silent_p.V970V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	998					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V998V(1)|p.V969V(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ACAATGAAGTCTATGGAAAAG	0.353																																					p.V970V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2910A	6						.						118.0	107.0	111.0					6																	142738465		1830	4091	5921	142780158	SO:0001819	synonymous_variant	57211	exon20			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2994C>A	6.37:g.142738465C>A			142780158	NM_001032394	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	CCDS47490.1																																																																																				0.353	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
HIVEP2	3097	broad.mit.edu	37	6	143074678	143074678	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143074678G>A	ENST00000367604.1	-	9	7546	c.6907C>T	c.(6907-6909)Cgg>Tgg	p.R2303W	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2303W|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2303W|RP1-67K17.3_ENST00000437067.1_RNA			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2303					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.R2303W(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCAACAGCCGAGGAGAGGAG	0.512																																					p.R2303W	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6907T	6						.						90.0	92.0	91.0					6																	143074678		2013	4183	6196	143116371	SO:0001583	missense	3097	exon10			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6907C>T	6.37:g.143074678G>A	ENSP00000356576:p.Arg2303Trp		143116371	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368137	0.24771	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02472	4.28;4.28;4.28	5.78	3.99	0.46301	.	0.450941	0.25987	N	0.027028	T	0.00695	0.0023	L	0.34521	1.04	0.27789	N	0.942907	D	0.54047	0.964	B	0.32805	0.153	T	0.50825	-0.8782	10	0.54805	T	0.06	-12.0397	5.0456	0.14483	0.2171:0.0:0.6173:0.1657	.	2303	P31629	ZEP2_HUMAN	W	2303	ENSP00000356576:R2303W;ENSP00000356575:R2303W;ENSP00000012134:R2303W	ENSP00000012134:R2303W	R	-	1	2	HIVEP2	143116371	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	2.468000	0.45102	1.434000	0.47414	0.655000	0.94253	CGG		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143091958	143091958	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143091958A>C	ENST00000367604.1	-	4	4557	c.3918T>G	c.(3916-3918)acT>acG	p.T1306T	HIVEP2_ENST00000012134.2_Silent_p.T1306T|HIVEP2_ENST00000367603.2_Silent_p.T1306T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1306					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.T1306T(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGGCGTTTCAGTTGACTTAC	0.498																																					p.T1306T	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3918G	6						.						169.0	169.0	169.0					6																	143091958		1937	4131	6068	143133651	SO:0001819	synonymous_variant	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3918T>G	6.37:g.143091958A>C			143133651	NM_006734	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.498	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
HIVEP2	3097	broad.mit.edu	37	6	143094200	143094200	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143094200G>T	ENST00000367604.1	-	4	2315	c.1676C>A	c.(1675-1677)tCt>tAt	p.S559Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S559Y|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S559Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S559Y(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCTCTCAAAGAAGGAGGAAT	0.468																																					p.S559Y	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1676A	6						.						90.0	89.0	89.0					6																	143094200		1902	4127	6029	143135893	SO:0001583	missense	3097	exon5			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1676C>A	6.37:g.143094200G>T	ENSP00000356576:p.Ser559Tyr		143135893	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512071	0.44660	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.12039	2.72;2.72;2.72	5.48	5.48	0.80851	.	0.374019	0.31624	N	0.007324	T	0.10078	0.0247	L	0.53249	1.67	0.30671	N	0.753345	D	0.56521	0.976	P	0.44732	0.459	T	0.02098	-1.1214	10	0.72032	D	0.01	-21.5276	14.217	0.65800	0.0:0.0:0.8507:0.1493	.	559	P31629	ZEP2_HUMAN	Y	559	ENSP00000356576:S559Y;ENSP00000356575:S559Y;ENSP00000012134:S559Y	ENSP00000012134:S559Y	S	-	2	0	HIVEP2	143135893	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	3.893000	0.56243	2.566000	0.86566	0.655000	0.94253	TCT		0.468	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
ADAT2	134637	broad.mit.edu	37	6	143759816	143759816	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143759816C>T	ENST00000237283.8	-	2	126	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	AL031320.1_ENST00000595616.1_Intron|ADAT2_ENST00000606514.1_5'UTR	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	38					tRNA wobble adenosine to inosine editing (GO:0002100)		tRNA-specific adenosine deaminase activity (GO:0008251)|zinc ion binding (GO:0008270)	p.E38K(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TCAGTATTTTCGAGGGCTTCT	0.393																																					p.E38K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	6						.						153.0	136.0	141.0					6																	143759816		1864	4095	5959	143801509	SO:0001583	missense	134637	exon2			BC037955	CCDS43511.1, CCDS69219.1	6q24.2	2014-01-28	2011-05-19	2007-08-16	ENSG00000189007	ENSG00000189007			21172	protein-coding gene	gene with protein product	tRNA-specific adenosine deaminase 2 homolog (S. cerevisiae)	615388	"""deaminase domain containing 1"", ""adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae)"""	DEADC1		12457566	Standard	NM_182503		Approved	dJ20N2.1, TAD2	uc003qjj.3	Q7Z6V5	OTTHUMG00000015725	ENST00000237283.8:c.112G>A	6.37:g.143759816C>T	ENSP00000237283:p.Glu38Lys		143801509	NM_182503	A6NL12|B3KWY3|Q7Z327|Q8IY39	Missense_Mutation	SNP	ENST00000237283.8	37	CCDS43511.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577853	0.28180	.	.	ENSG00000189007	ENST00000237283	T	0.39592	1.07	5.89	5.03	0.67393	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.269079	0.42682	N	0.000677	T	0.07324	0.0185	N	0.04245	-0.25	0.80722	D	1	B	0.18166	0.026	B	0.14578	0.011	T	0.19289	-1.0310	10	0.07644	T	0.81	-10.9942	10.9233	0.47178	0.0:0.8581:0.0:0.1419	.	38	Q7Z6V5	ADAT2_HUMAN	K	38	ENSP00000237283:E38K	ENSP00000237283:E38K	E	-	1	0	ADAT2	143801509	0.996000	0.38824	0.517000	0.27799	0.677000	0.39632	2.248000	0.43160	1.507000	0.48752	0.563000	0.77884	GAA		0.393	ADAT2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042517.1	XM_059727	
PEX3	8504	broad.mit.edu	37	6	143780306	143780306	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143780306G>A	ENST00000367591.4	+	2	221	c.158G>A	c.(157-159)cGa>cAa	p.R53Q		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	53					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.R53Q(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GCCCAAGCACGACGACAATAT	0.353																																					p.R53Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	6						.						126.0	121.0	122.0					6																	143780306		2203	4300	6503	143821999	SO:0001583	missense	8504	exon2			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.158G>A	6.37:g.143780306G>A	ENSP00000356563:p.Arg53Gln		143821999	NM_003630	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	G	35	5.426895	0.96131	.	.	ENSG00000034693	ENST00000367591	T	0.39229	1.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.703;0.996	T	0.30937	-0.9961	10	0.07482	T	0.82	-12.4305	19.6691	0.95903	0.0:0.0:1.0:0.0	.	53;53	B4DV31;P56589	.;PEX3_HUMAN	Q	53	ENSP00000356563:R53Q	ENSP00000356563:R53Q	R	+	2	0	PEX3	143821999	1.000000	0.71417	0.948000	0.38648	0.879000	0.50718	9.343000	0.97047	2.721000	0.93114	0.591000	0.81541	CGA		0.353	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		
PEX3	8504	broad.mit.edu	37	6	143792154	143792154	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:143792154C>T	ENST00000367591.4	+	5	451	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	130	Interaction with PEX19.				peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.R130W(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TGTTCTTTTGCGGGTCCAGTT	0.363																																					p.R130W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388T	6						.						143.0	135.0	138.0					6																	143792154		2203	4300	6503	143833847	SO:0001583	missense	8504	exon5			AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.388C>T	6.37:g.143792154C>T	ENSP00000356563:p.Arg130Trp		143833847	NM_003630	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975325	0.74360	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.59772	0.24;0.24	5.48	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77099	-0.2713	10	0.87932	D	0	-11.0984	14.5306	0.67923	0.2593:0.7407:0.0:0.0	.	130;130	B4DV31;P56589	.;PEX3_HUMAN	W	86;86;130	ENSP00000356564:R86W;ENSP00000356563:R130W	ENSP00000344195:R86W	R	+	1	2	PEX3	143833847	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	1.779000	0.38624	0.630000	0.30394	0.591000	0.81541	CGG		0.363	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		
PHACTR2	9749	broad.mit.edu	37	6	144074943	144074943	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144074943C>T	ENST00000427704.2	+	4	445	c.315C>T	c.(313-315)atC>atT	p.I105I	PHACTR2_ENST00000367582.3_Silent_p.I116I|PHACTR2_ENST00000440869.2_Silent_p.I116I|PHACTR2_ENST00000305766.6_Silent_p.I105I|PHACTR2_ENST00000397980.3_Silent_p.I116I|PHACTR2_ENST00000367584.4_Silent_p.I173I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	105							protein phosphatase inhibitor activity (GO:0004864)	p.I105I(1)|p.I116I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGATACCCATCGGAGAGGAAT	0.408																																					p.I116I	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C348T	6						.						88.0	80.0	82.0					6																	144074943		1814	4082	5896	144116636	SO:0001819	synonymous_variant	9749	exon4			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.315C>T	6.37:g.144074943C>T			144116636	NM_001100165	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	CCDS47492.1																																																																																				0.408	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
PHACTR2	9749	broad.mit.edu	37	6	144086576	144086576	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144086576C>T	ENST00000427704.2	+	6	970	c.840C>T	c.(838-840)tcC>tcT	p.S280S	PHACTR2_ENST00000367582.3_Silent_p.S211S|PHACTR2_ENST00000440869.2_Silent_p.S291S|PHACTR2_ENST00000305766.6_Silent_p.S200S|PHACTR2_ENST00000367584.4_Silent_p.S268S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	280							protein phosphatase inhibitor activity (GO:0004864)	p.S291S(1)|p.S200S(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCACCTGTCCTCAGACACAA	0.512																																					p.S211S	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C633T	6						.						89.0	94.0	93.0					6																	144086576		1990	4184	6174	144128269	SO:0001819	synonymous_variant	9749	exon5			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.840C>T	6.37:g.144086576C>T			144128269	NM_001100165	A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	CCDS47492.1																																																																																				0.512	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	
PLAGL1	5325	broad.mit.edu	37	6	144263204	144263204	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144263204T>C	ENST00000360537.2	-	5	2662	c.749A>G	c.(748-750)aAc>aGc	p.N250S	PLAGL1_ENST00000392307.1_Missense_Mutation_p.N198S|PLAGL1_ENST00000437412.1_Missense_Mutation_p.N198S|PLAGL1_ENST00000392309.1_Missense_Mutation_p.N250S|PLAGL1_ENST00000444202.1_Missense_Mutation_p.N250S|PLAGL1_ENST00000354765.2_Missense_Mutation_p.N250S|PLAGL1_ENST00000416623.1_Missense_Mutation_p.N250S|PLAGL1_ENST00000429150.1_Missense_Mutation_p.N250S|PLAGL1_ENST00000367571.1_Missense_Mutation_p.N250S|PLAGL1_ENST00000367572.1_Missense_Mutation_p.N198S			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	250					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N250S(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGCAAGCCCGTTCTGGGCAGA	0.602											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N198S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A593G	6						.						93.0	97.0	95.0					6																	144263204		2203	4300	6503	144304897	SO:0001583	missense	5325	exon6			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.749A>G	6.37:g.144263204T>C	ENSP00000353734:p.Asn250Ser	1685	144304897	NM_001080955	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	ENST00000360537.2	37	CCDS5202.1	.	.	.	.	.	.	.	.	.	.	T	2.750	-0.260340	0.05791	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000451709;ENST00000367572;ENST00000367571	T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;3.96;3.96;3.96;2.9	5.39	2.94	0.34122	.	0.263495	0.32343	N	0.006227	T	0.01695	0.0054	N	0.24115	0.695	0.23882	N	0.996578	B	0.12630	0.006	B	0.16722	0.016	T	0.47861	-0.9084	10	0.07990	T	0.79	-9.7547	9.4522	0.38734	0.0:0.1352:0.0:0.8648	.	250	Q9UM63	PLAL1_HUMAN	S	250;250;250;250;250;250;198;198;39;198;250	ENSP00000353734:N250S;ENSP00000346810:N250S;ENSP00000400929:N250S;ENSP00000398409:N250S;ENSP00000376125:N250S;ENSP00000400060:N250S;ENSP00000392418:N198S;ENSP00000376124:N198S;ENSP00000356544:N198S;ENSP00000356543:N250S	ENSP00000346810:N250S	N	-	2	0	PLAGL1	144304897	1.000000	0.71417	0.228000	0.23943	0.847000	0.48162	5.408000	0.66368	0.335000	0.23614	0.402000	0.26972	AAC		0.602	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1		
STX11	8676	broad.mit.edu	37	6	144508154	144508154	+	Silent	SNP	G	G	A	rs544924911		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144508154G>A	ENST00000367568.4	+	2	573	c.390G>A	c.(388-390)gcG>gcA	p.A130A		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	130					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.A130A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TTTCGCGGGCGCAGTACAACG	0.667									Familial Hemophagocytic Lymphohistiocytosis																												p.A130A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G390A	6						.						26.0	24.0	24.0					6																	144508154		2203	4300	6503	144549847	SO:0001819	synonymous_variant	8676	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.390G>A	6.37:g.144508154G>A			144549847	NM_003764	E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	CCDS5205.1																																																																																				0.667	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1		
STX11	8676	broad.mit.edu	37	6	144508523	144508523	+	Silent	SNP	C	C	T	rs369303487		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144508523C>T	ENST00000367568.4	+	2	942	c.759C>T	c.(757-759)gtC>gtT	p.V253V		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	253	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.V253V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		AAAAGACGGTCGACTACACCG	0.622									Familial Hemophagocytic Lymphohistiocytosis																												p.V253V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C759T	6						.						59.0	47.0	51.0					6																	144508523		2203	4300	6503	144550216	SO:0001819	synonymous_variant	8676	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.759C>T	6.37:g.144508523C>T			144550216	NM_003764	E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	CCDS5205.1																																																																																				0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1		
UTRN	7402	broad.mit.edu	37	6	144757231	144757231	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144757231C>A	ENST00000367545.3	+	9	1016	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	339	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S339Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GATGATATTTCTGATGATGTT	0.473																																					p.S339Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1016A	6						.						159.0	142.0	148.0					6																	144757231		2203	4300	6503	144798924	SO:0001583	missense	7402	exon9			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1016C>A	6.37:g.144757231C>A	ENSP00000356515:p.Ser339Tyr		144798924	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960034	0.92791	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.53640	0.61	5.77	5.77	0.91146	.	0.000000	0.53938	D	0.000054	T	0.72495	0.3467	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76280	-0.3017	10	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	339	P46939	UTRO_HUMAN	Y	339	ENSP00000356515:S339Y	ENSP00000356499:S339Y	S	+	2	0	UTRN	144798924	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.687000	0.84139	2.884000	0.98904	0.655000	0.94253	TCT		0.473	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144768443C>T	ENST00000367545.3	+	14	1711	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	571	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R571*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383																																					p.R571X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)	c.C1711T	6						.						118.0	104.0	109.0					6																	144768443		2203	4300	6503	144810136	SO:0001587	stop_gained	7402	exon14			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1711C>T	6.37:g.144768443C>T	ENSP00000356515:p.Arg571*		144810136	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240768	0.98157	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.85	4.98	0.66077	.	0.000000	0.44902	D	0.000415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7217	0.40306	0.1401:0.7897:0.0:0.0702	.	.	.	.	X	571	.	ENSP00000356499:R571X	R	+	1	2	UTRN	144810136	1.000000	0.71417	0.110000	0.21437	0.686000	0.39977	4.662000	0.61525	1.470000	0.48102	0.561000	0.74099	CGA		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144768895	144768895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144768895G>T	ENST00000367545.3	+	15	1880	c.1880G>T	c.(1879-1881)aGa>aTa	p.R627I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	627	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R627I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGGTTCAGAGACTAGAAGAT	0.368																																					p.R627I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1880T	6						.						113.0	113.0	113.0					6																	144768895		2203	4300	6503	144810588	SO:0001583	missense	7402	exon15			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1880G>T	6.37:g.144768895G>T	ENSP00000356515:p.Arg627Ile		144810588	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517226	0.85495	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.36157	1.27	5.87	4.99	0.66335	.	0.101083	0.43919	D	0.000501	T	0.25158	0.0611	L	0.44542	1.39	0.80722	D	1	P	0.52316	0.952	P	0.50896	0.653	T	0.06303	-1.0834	10	0.51188	T	0.08	.	5.9329	0.19148	0.2468:0.0:0.7532:0.0	.	627	P46939	UTRO_HUMAN	I	627	ENSP00000356515:R627I	ENSP00000356499:R627I	R	+	2	0	UTRN	144810588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.975000	0.63777	2.941000	0.99782	0.655000	0.94253	AGA		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144772609	144772609	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144772609G>A	ENST00000367545.3	+	17	2176	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	726	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E726K(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGACACTTCCGAAATGAAAAA	0.348																																					p.E726K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2176A	6						.						88.0	84.0	85.0					6																	144772609		2203	4300	6503	144814302	SO:0001583	missense	7402	exon17			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2176G>A	6.37:g.144772609G>A	ENSP00000356515:p.Glu726Lys		144814302	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100637	0.37048	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.61742	0.08	5.99	5.99	0.97316	.	0.543702	0.16825	N	0.198016	T	0.30230	0.0758	L	0.38175	1.15	0.80722	D	1	P	0.38110	0.618	B	0.24541	0.054	T	0.23084	-1.0198	10	0.42905	T	0.14	.	14.0646	0.64821	0.0771:0.0:0.9229:0.0	.	726	P46939	UTRO_HUMAN	K	726	ENSP00000356515:E726K	ENSP00000356499:E726K	E	+	1	0	UTRN	144814302	1.000000	0.71417	0.895000	0.35142	0.023000	0.10783	4.616000	0.61197	2.847000	0.97988	0.655000	0.94253	GAA		0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144783844	144783844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144783844G>T	ENST00000367545.3	+	22	2908	c.2908G>T	c.(2908-2910)Gaa>Taa	p.E970*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	970					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E970*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACTTGCAGAAGAAACAAAGGC	0.328																																					p.E970X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2908T	6						.						52.0	59.0	56.0					6																	144783844		2201	4298	6499	144825537	SO:0001587	stop_gained	7402	exon22			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2908G>T	6.37:g.144783844G>T	ENSP00000356515:p.Glu970*		144825537	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	40	8.413451	0.98801	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.36	4.48	0.54585	.	0.118708	0.37483	N	0.002067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	16.0496	0.80745	0.0:0.1345:0.8655:0.0	.	.	.	.	X	970	.	ENSP00000356499:E970X	E	+	1	0	UTRN	144825537	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	4.769000	0.62300	1.221000	0.43506	-0.176000	0.13171	GAA		0.328	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144795803	144795803	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144795803A>C	ENST00000367545.3	+	24	3244	c.3244A>C	c.(3244-3246)Aat>Cat	p.N1082H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1082					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.N1082H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATAGAGACTAATCTTCGAAG	0.363																																					p.N1082H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3244C	6						.						105.0	105.0	105.0					6																	144795803		2203	4300	6503	144837496	SO:0001583	missense	7402	exon24			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3244A>C	6.37:g.144795803A>C	ENSP00000356515:p.Asn1082His		144837496	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	0.089	-1.170605	0.01660	.	.	ENSG00000152818	ENST00000367545	T	0.51071	0.72	5.68	0.263	0.15602	.	1.103270	0.06912	N	0.807875	T	0.16128	0.0388	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31752	-0.9932	10	0.46703	T	0.11	.	5.5389	0.17028	0.5218:0.2515:0.2267:0.0	.	1082	P46939	UTRO_HUMAN	H	1082	ENSP00000356515:N1082H	ENSP00000356515:N1082H	N	+	1	0	UTRN	144837496	0.000000	0.05858	0.015000	0.15790	0.041000	0.13682	-0.313000	0.08103	0.062000	0.16340	0.460000	0.39030	AAT		0.363	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
UTRN	7402	broad.mit.edu	37	6	144843278	144843278	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:144843278G>T	ENST00000367545.3	+	39	5704	c.5704G>T	c.(5704-5706)Gac>Tac	p.D1902Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1902					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D1902Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATTTACGAAGACTTCTCTTT	0.378																																					p.D1902Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5704T	6						.						122.0	114.0	117.0					6																	144843278		2203	4300	6503	144884971	SO:0001583	missense	7402	exon39			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5704G>T	6.37:g.144843278G>T	ENSP00000356515:p.Asp1902Tyr		144884971	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759231	0.49468	.	.	ENSG00000152818	ENST00000367545	T	0.63580	-0.05	5.51	4.61	0.57282	.	0.107611	0.40818	N	0.001012	T	0.47820	0.1466	M	0.72894	2.215	0.80722	D	1	P	0.45474	0.859	B	0.39419	0.299	T	0.59606	-0.7423	10	0.62326	D	0.03	.	9.8873	0.41268	0.0731:0.1396:0.7872:0.0	.	1902	P46939	UTRO_HUMAN	Y	1902	ENSP00000356515:D1902Y	ENSP00000356515:D1902Y	D	+	1	0	UTRN	144884971	1.000000	0.71417	0.981000	0.43875	0.377000	0.30045	6.073000	0.71245	2.593000	0.87608	0.491000	0.48974	GAC		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	broad.mit.edu	37	6	146243422	146243422	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146243422G>A	ENST00000367505.2	-	20	4046	c.3782C>T	c.(3781-3783)aCa>aTa	p.T1261I	SHPRH_ENST00000275233.7_Splice_Site_p.T1261I|SHPRH_ENST00000438092.2_Splice_Site_p.T1265I|SHPRH_ENST00000367503.3_Splice_Site_p.T1265I			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1261					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1265I(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGAACTTACGTGTTGGAAAA	0.313																																					p.T1265I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3794T	6						.						74.0	70.0	71.0					6																	146243422		1816	4058	5874	146285115	SO:0001630	splice_region_variant	257218	exon20			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3782+1C>T	6.37:g.146243422G>A			146285115	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912772	0.72983	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.74947	-0.89;-0.89;-0.88;-0.89	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.91635	0.657;0.998;0.999	T	0.78863	-0.2036	9	.	.	.	-17.3411	14.6902	0.69080	0.0:0.1456:0.8544:0.0	.	460;1261;1265	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	I	1261;1265;1265;1261	ENSP00000356475:T1261I;ENSP00000356473:T1265I;ENSP00000412797:T1265I;ENSP00000275233:T1261I	.	T	-	2	0	SHPRH	146285115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.302000	0.65733	2.423000	0.82170	0.655000	0.94253	ACA		0.313	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	Missense_Mutation
SHPRH	257218	broad.mit.edu	37	6	146264506	146264506	+	Missense_Mutation	SNP	G	G	A	rs369914151		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146264506G>A	ENST00000367505.2	-	9	2275	c.2011C>T	c.(2011-2013)Cgt>Tgt	p.R671C	SHPRH_ENST00000275233.7_Missense_Mutation_p.R671C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R671C|SHPRH_ENST00000367503.3_Missense_Mutation_p.R671C			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	671					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R671C(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CGAGGCTTACGATCTATCTGA	0.418																																					p.R671C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2011T	6						.	G	CYS/ARG,CYS/ARG	0,3950		0,0,1975	112.0	106.0	108.0		2011,2011	-0.6	0.0	6		108	1,8321		0,1,4160	no	missense,missense	SHPRH	NM_001042683.2,NM_173082.3	180,180	0,1,6135	AA,AG,GG		0.012,0.0,0.0081	benign,benign	671/1684,671/1660	146264506	1,12271	1975	4161	6136	146306199	SO:0001583	missense	257218	exon9			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2011C>T	6.37:g.146264506G>A	ENSP00000356475:p.Arg671Cys		146306199	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622288	0.28889	0.0	1.2E-4	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.46	-0.575	0.11734	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);DEAD-like helicase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	1.190550	0.05905	N	0.630643	T	0.27454	0.0674	L	0.27053	0.805	0.23056	N	0.998361	B;B;B;B	0.14012	0.001;0.003;0.002;0.009	B;B;B;B	0.09377	0.001;0.002;0.002;0.004	T	0.31613	-0.9937	10	0.38643	T	0.18	3.442	10.7864	0.46407	0.6361:0.0:0.3639:0.0	.	560;671;671;560	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	C	671;671;671;671;560	ENSP00000356475:R671C;ENSP00000356473:R671C;ENSP00000412797:R671C;ENSP00000275233:R671C	ENSP00000275233:R671C	R	-	1	0	SHPRH	146306199	0.992000	0.36948	0.001000	0.08648	0.806000	0.45545	2.755000	0.47540	-0.092000	0.12417	-0.142000	0.14014	CGT		0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	broad.mit.edu	37	6	146264908	146264908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146264908C>A	ENST00000367505.2	-	9	1873	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.E537*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.E537*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.E537*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	537					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E537*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTCTAGTTTCTTTCTGAATT	0.333																																					p.E537X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1609T	6						.						70.0	66.0	67.0					6																	146264908		1821	4084	5905	146306601	SO:0001587	stop_gained	257218	exon9			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1609G>T	6.37:g.146264908C>A	ENSP00000356475:p.Glu537*		146306601	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	41	8.688860	0.98916	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.62	4.74	0.60224	.	0.288858	0.31082	N	0.008292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.0477	10.6835	0.45828	0.0:0.8396:0.0:0.1604	.	.	.	.	X	537;537;537;537;426	.	ENSP00000275233:E537X	E	-	1	0	SHPRH	146306601	0.999000	0.42202	1.000000	0.80357	0.887000	0.51463	1.529000	0.35996	2.822000	0.97130	0.650000	0.86243	GAA		0.333	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SHPRH	257218	broad.mit.edu	37	6	146267402	146267402	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146267402C>T	ENST00000367505.2	-	7	1552	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E430K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E430K|SHPRH_ENST00000367503.3_Missense_Mutation_p.E430K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	430					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E430K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTTCAAATTCGATATTCTGG	0.338																																					p.E430K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	6						.						183.0	160.0	167.0					6																	146267402		1820	4067	5887	146309095	SO:0001583	missense	257218	exon7			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1288G>A	6.37:g.146267402C>T	ENSP00000356475:p.Glu430Lys		146309095	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511743	0.85389	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74632	-0.86;-0.86;-0.84;-0.86	5.33	5.33	0.75918	DEAD-like helicase (1);	0.282690	0.29106	N	0.013140	T	0.75532	0.3862	L	0.47716	1.5	0.42336	D	0.992317	P;D;P;D	0.64830	0.938;0.971;0.926;0.994	B;P;B;P	0.55785	0.294;0.619;0.382;0.784	T	0.78518	-0.2173	10	0.72032	D	0.01	-21.6379	18.9987	0.92824	0.0:1.0:0.0:0.0	.	319;430;430;319	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	K	430;430;430;430;319	ENSP00000356475:E430K;ENSP00000356473:E430K;ENSP00000412797:E430K;ENSP00000275233:E430K	ENSP00000275233:E430K	E	-	1	0	SHPRH	146309095	1.000000	0.71417	0.844000	0.33320	0.531000	0.34715	6.253000	0.72453	2.494000	0.84150	0.561000	0.74099	GAA		0.338	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
GRM1	2911	broad.mit.edu	37	6	146350902	146350902	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146350902C>T	ENST00000282753.1	+	1	484	c.249C>T	c.(247-249)ttC>ttT	p.F83F	GRM1_ENST00000361719.2_Silent_p.F83F|GRM1_ENST00000392299.2_Silent_p.F83F|GRM1_ENST00000492807.2_Silent_p.F83F|GRM1_ENST00000355289.4_Silent_p.F83F|GRM1_ENST00000507907.1_Silent_p.F83F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	83					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.F83F(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AGGCCATGTTCCACACGTTGG	0.607																																					p.F83F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	6						.						70.0	60.0	64.0					6																	146350902		2203	4300	6503	146392595	SO:0001819	synonymous_variant	2911	exon2			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.249C>T	6.37:g.146350902C>T			146392595	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.607	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GRM1	2911	broad.mit.edu	37	6	146351112	146351112	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146351112G>T	ENST00000282753.1	+	1	694	c.459G>T	c.(457-459)aaG>aaT	p.K153N	GRM1_ENST00000361719.2_Missense_Mutation_p.K153N|GRM1_ENST00000392299.2_Missense_Mutation_p.K153N|GRM1_ENST00000492807.2_Missense_Mutation_p.K153N|GRM1_ENST00000355289.4_Missense_Mutation_p.K153N|GRM1_ENST00000507907.1_Missense_Mutation_p.K153N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	153					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.K153N(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAGGACTAAGAAGCCCATTG	0.557																																					p.K153N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459T	6						.						68.0	72.0	71.0					6																	146351112		2203	4300	6503	146392805	SO:0001583	missense	2911	exon2			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.459G>T	6.37:g.146351112G>T	ENSP00000282753:p.Lys153Asn		146392805	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109863	0.56398	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.69	3.59	0.41128	Extracellular ligand-binding receptor (1);	0.096714	0.64402	D	0.000001	T	0.79179	0.4402	L	0.45581	1.43	0.54753	D	0.999985	B;P;B;B	0.51147	0.38;0.942;0.433;0.38	B;P;P;B	0.51777	0.425;0.679;0.456;0.425	T	0.80513	-0.1349	10	0.54805	T	0.06	.	8.9963	0.36055	0.3291:0.0:0.6709:0.0	.	153;153;148;153	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	N	153	ENSP00000354896:K153N;ENSP00000376119:K153N;ENSP00000424095:K153N;ENSP00000282753:K153N;ENSP00000347437:K153N;ENSP00000425599:K153N	ENSP00000282753:K153N	K	+	3	2	GRM1	146392805	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.207000	0.42788	1.405000	0.46838	0.561000	0.74099	AAG		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
GRM1	2911	broad.mit.edu	37	6	146720611	146720611	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146720611C>A	ENST00000282753.1	+	7	2671	c.2436C>A	c.(2434-2436)atC>atA	p.I812I	GRM1_ENST00000361719.2_Silent_p.I812I|GRM1_ENST00000392299.2_Silent_p.I812I|GRM1_ENST00000492807.2_Silent_p.I812I|GRM1_ENST00000355289.4_Silent_p.I812I|GRM1_ENST00000507907.1_Silent_p.I812I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	812					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I812I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTACAAGATCATCACAACTT	0.463																																					p.I812I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2436A	6						.						160.0	129.0	140.0					6																	146720611		2203	4300	6503	146762304	SO:0001819	synonymous_variant	2911	exon8			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2436C>A	6.37:g.146720611C>A			146762304	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.463	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
RAB32	10981	broad.mit.edu	37	6	146875640	146875640	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:146875640C>A	ENST00000367495.3	+	3	756	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	193	PKA-RII subunit binding domain.				antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.L193I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GGAGAAGATTCTTGTAAACCA	0.383																																					p.L193I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577A	6						.						97.0	99.0	99.0					6																	146875640		2203	4300	6503	146917333	SO:0001583	missense	10981	exon3			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.577C>A	6.37:g.146875640C>A	ENSP00000356465:p.Leu193Ile		146917333	NM_006834		Missense_Mutation	SNP	ENST00000367495.3	37	CCDS5210.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709783	0.68730	.	.	ENSG00000118508	ENST00000367495	T	0.80653	-1.4	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	L	0.35288	1.05	0.80722	D	1	B	0.28128	0.201	B	0.39119	0.291	T	0.70565	-0.4837	10	0.48119	T	0.1	-20.1965	14.2916	0.66281	0.0:0.9294:0.0:0.0706	.	193	Q13637	RAB32_HUMAN	I	193	ENSP00000356465:L193I	ENSP00000356465:L193I	L	+	1	0	RAB32	146917333	1.000000	0.71417	0.886000	0.34754	0.971000	0.66376	3.627000	0.54252	2.735000	0.93741	0.655000	0.94253	CTT		0.383	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834	
STXBP5	134957	broad.mit.edu	37	6	147560406	147560406	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:147560406G>T	ENST00000321680.6	+	4	431	c.431G>T	c.(430-432)aGg>aTg	p.R144M	STXBP5_ENST00000367480.3_Splice_Site_p.R144M|STXBP5_ENST00000367481.3_Splice_Site_p.R144M|STXBP5_ENST00000546097.1_Splice_Site_p.R144M|STXBP5_ENST00000179882.6_5'UTR	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	144					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R144M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGCAGAGAAAGGTAAGAATTC	0.373																																					p.R144M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431T	6						.						86.0	81.0	83.0					6																	147560406		2203	4300	6503	147602099	SO:0001630	splice_region_variant	134957	exon4			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.431+1G>T	6.37:g.147560406G>T			147602099	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835878	0.91117	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.66638	1.54;4.96;1.54;-0.22	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82449	0.5039	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.981	D	0.84745	0.0753	10	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	144;144	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	M	144	ENSP00000356451:R144M;ENSP00000441479:R144M;ENSP00000321826:R144M;ENSP00000356450:R144M	ENSP00000321826:R144M	R	+	2	0	STXBP5	147602099	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.223000	0.95203	2.664000	0.90586	0.563000	0.77884	AGG		0.373	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		Missense_Mutation
STXBP5	134957	broad.mit.edu	37	6	147583481	147583481	+	Missense_Mutation	SNP	G	G	A	rs367614502		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:147583481G>A	ENST00000321680.6	+	6	622	c.622G>A	c.(622-624)Gag>Aag	p.E208K	STXBP5_ENST00000367480.3_Missense_Mutation_p.E208K|STXBP5_ENST00000367481.3_Missense_Mutation_p.E208K|STXBP5_ENST00000546097.1_Missense_Mutation_p.E208K|STXBP5_ENST00000179882.6_5'UTR	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	208					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.E208K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCAATGGACGAGGGAAAGGT	0.284													G|||	1	0.000199681	0.0	0.0	5008	,	,		12301	0.0		0.0	False		,,,				2504	0.001				p.E208K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622A	6						.	G	LYS/GLU,LYS/GLU	1,4377		0,1,2188	22.0	23.0	23.0		622,622	5.2	1.0	6		23	0,8546		0,0,4273	no	missense,missense	STXBP5	NM_001127715.2,NM_139244.4	56,56	0,1,6461	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	208/1152,208/1116	147583481	1,12923	2189	4273	6462	147625174	SO:0001583	missense	134957	exon6			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.622G>A	6.37:g.147583481G>A	ENSP00000321826:p.Glu208Lys		147625174	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868282	0.91587	2.28E-4	0.0	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.64085	1.56;4.99;1.56;-0.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.911	T	0.60291	-0.7292	10	0.08179	T	0.78	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	208;208	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	K	208	ENSP00000356451:E208K;ENSP00000441479:E208K;ENSP00000321826:E208K;ENSP00000356450:E208K	ENSP00000321826:E208K	E	+	1	0	STXBP5	147625174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.392000	0.97252	2.583000	0.87209	0.655000	0.94253	GAG		0.284	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
STXBP5	134957	broad.mit.edu	37	6	147632635	147632635	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:147632635T>G	ENST00000321680.6	+	11	1117	c.1117T>G	c.(1117-1119)Tta>Gta	p.L373V	STXBP5_ENST00000367480.3_Missense_Mutation_p.L373V|STXBP5_ENST00000367481.3_Missense_Mutation_p.L373V|STXBP5_ENST00000179882.6_Missense_Mutation_p.L44V	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	373					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.L373V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGAAAAGGATTTAGTACTTAT	0.323																																					p.L373V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1117G	6						.						124.0	125.0	125.0					6																	147632635		2203	4299	6502	147674328	SO:0001583	missense	134957	exon11			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1117T>G	6.37:g.147632635T>G	ENSP00000321826:p.Leu373Val		147674328	NM_001127715	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845040	0.71603	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.20200	3.01;3.01;2.09;2.38	5.64	4.47	0.54385	WD40 repeat-like-containing domain (2);Lethal giant larvae homologue 2 (1);	0.000000	0.64402	D	0.000001	T	0.36248	0.0960	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.87578	0.99;0.998;0.994	T	0.36407	-0.9749	10	0.87932	D	0	.	11.38	0.49752	0.0:0.071:0.0:0.929	.	373;373;44	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	V	373;373;373;44	ENSP00000356451:L373V;ENSP00000321826:L373V;ENSP00000356450:L373V;ENSP00000179882:L44V	ENSP00000179882:L44V	L	+	1	2	STXBP5	147674328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.320000	0.51991	0.965000	0.38133	0.459000	0.35465	TTA		0.323	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
SASH1	23328	broad.mit.edu	37	6	148848723	148848723	+	Silent	SNP	C	C	A	rs368513083		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:148848723C>A	ENST00000367467.3	+	12	1894	c.1419C>A	c.(1417-1419)gtC>gtA	p.V473V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	473					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.V473V(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCAGCTCTGTCTCTGAGCAGG	0.423																																					p.V473V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1419A	6						.						114.0	116.0	115.0					6																	148848723		2203	4300	6503	148890416	SO:0001819	synonymous_variant	23328	exon12			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1419C>A	6.37:g.148848723C>A			148890416	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																				0.423	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
SASH1	23328	broad.mit.edu	37	6	148865259	148865259	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:148865259G>T	ENST00000367467.3	+	18	3128	c.2653G>T	c.(2653-2655)Gac>Tac	p.D885Y		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	885					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.D885Y(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCTGGAGCAAGACTCTGCTGT	0.537																																					p.D885Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2653T	6						.						129.0	142.0	137.0					6																	148865259		2203	4300	6503	148906952	SO:0001583	missense	23328	exon18			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2653G>T	6.37:g.148865259G>T	ENSP00000356437:p.Asp885Tyr		148906952	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	6.469	0.454623	0.12283	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.38240	1.15	5.21	3.4	0.38934	.	0.723087	0.13565	N	0.378500	T	0.08714	0.0216	L	0.36672	1.1	0.09310	N	1	B;B	0.28512	0.214;0.214	B;B	0.34873	0.191;0.094	T	0.40421	-0.9564	10	0.05620	T	0.96	-6.6203	4.7248	0.12936	0.1599:0.2052:0.6349:0.0	.	866;885	Q6P4R9;O94885	.;SASH1_HUMAN	Y	885;646;295	ENSP00000356437:D885Y	ENSP00000356437:D885Y	D	+	1	0	SASH1	148906952	0.000000	0.05858	0.002000	0.10522	0.148000	0.21650	0.687000	0.25407	1.183000	0.42943	0.650000	0.86243	GAC		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
ZC3H12D	340152	broad.mit.edu	37	6	149783045	149783045	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:149783045C>A	ENST00000409806.3	-	3	685	c.367G>T	c.(367-369)Gac>Tac	p.D123Y	ZC3H12D_ENST00000389942.5_Missense_Mutation_p.D123Y|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.D123Y|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.D123Y|ZC3H12D_ENST00000409948.1_Missense_Mutation_p.D123Y			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	123					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.D123Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGTCCTCTGTCCCTGAACCAG	0.473																																					p.D123Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367T	6						.						83.0	85.0	84.0					6																	149783045		1991	4168	6159	149824738	SO:0001583	missense	340152	exon3					6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.367G>T	6.37:g.149783045C>A	ENSP00000386616:p.Asp123Tyr		149824738	NM_207360	A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37		.	.	.	.	.	.	.	.	.	.	C	22.7	4.320023	0.81469	.	.	ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614;ENST00000409948	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.19	5.19	0.71726	Ribonuclease Zc3h12a-like (1);	0.325480	0.31797	N	0.007048	T	0.52125	0.1715	M	0.65498	2.005	0.41431	D	0.987867	D;P	0.58970	0.984;0.81	P;P	0.60541	0.876;0.647	T	0.55438	-0.8141	10	0.87932	D	0	-17.1924	15.2987	0.73931	0.0:0.8599:0.1401:0.0	.	123;123	A2A288;B7WNU7	ZC12D_HUMAN;.	Y	123	ENSP00000374592:D123Y;ENSP00000408686:D123Y;ENSP00000386616:D123Y;ENSP00000440813:D123Y;ENSP00000387062:D123Y	ENSP00000374592:D123Y	D	-	1	0	ZC3H12D	149824738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.326000	0.59241	2.709000	0.92574	0.563000	0.77884	GAC		0.473	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360	
KATNA1	11104	broad.mit.edu	37	6	149916262	149916262	+	Silent	SNP	G	G	A	rs375745597		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:149916262G>A	ENST00000335647.5	-	10	1430	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	KATNA1_ENST00000367411.2_Silent_p.F462F|KATNA1_ENST00000335643.8_3'UTR|RP1-12G14.7_ENST00000419134.1_RNA|KATNA1_ENST00000494504.1_5'Flank|SNORA2_ENST00000365473.1_RNA					katanin p60 (ATPase containing) subunit A 1									p.F462F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCCATCTCGAAATCCTCCA	0.398																																					p.F462F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1386T	6						.	G	,	0,4406		0,0,2203	135.0	127.0	130.0		,1386	-1.2	1.0	6		130	4,8596	4.3+/-15.6	0,4,4296	no	utr-3,coding-synonymous	KATNA1	NM_001204076.1,NM_007044.3	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,462/492	149916262	4,13002	2203	4300	6503	149957955	SO:0001819	synonymous_variant	11104	exon10			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1386C>T	6.37:g.149916262G>A			149957955	NM_007044		Silent	SNP	ENST00000335647.5	37	CCDS5217.1																																																																																				0.398	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044	
LATS1	9113	broad.mit.edu	37	6	150001395	150001395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:150001395G>A	ENST00000543571.1	-	5	2756	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.R737*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R737*(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCTTTCTTTCGAAGAGTTTTT	0.378																																					p.R737X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2209T	6						.						102.0	101.0	102.0					6																	150001395		2203	4300	6503	150043088	SO:0001587	stop_gained	9113	exon5			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2209C>T	6.37:g.150001395G>A	ENSP00000437550:p.Arg737*		150043088	NM_004690		Nonsense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	40	8.165884	0.98686	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.64	5.64	0.86602	.	0.000000	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9906	0.64364	0.0:0.0:0.7498:0.2502	.	.	.	.	X	737	.	.	R	-	1	2	LATS1	150043088	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.999000	0.63934	2.812000	0.96745	0.557000	0.71058	CGA		0.378	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
PCMT1	5110	broad.mit.edu	37	6	150117635	150117635	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:150117635C>T	ENST00000367380.5	+	6	710	c.503C>T	c.(502-504)gCg>gTg	p.A168V	PCMT1_ENST00000367384.2_Splice_Site_p.A226V|PCMT1_ENST00000464889.1_Splice_Site_p.A226V|PCMT1_ENST00000367378.1_Splice_Site_p.A226V|PCMT1_ENST00000544496.1_Splice_Site_p.A133V|RP11-350J20.5_ENST00000455607.2_RNA	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	168				A -> P (in Ref. 10; AA sequence). {ECO:0000305}.	protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.A168V(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GTACCCCAGGCGGTGAGTCGG	0.408																																					p.A226V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677T	6						.						110.0	108.0	109.0					6																	150117635		2203	4300	6503	150159328	SO:0001630	splice_region_variant	5110	exon6				CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.504+1C>T	6.37:g.150117635C>T			150159328	NM_005389	A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.356982	0.82243	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496	T;T;T;T;T	0.50001	0.87;0.87;0.87;0.87;0.76	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	M	0.64260	1.97	0.80722	D	1	B;D;P	0.59767	0.329;0.986;0.7	B;B;B	0.41466	0.206;0.358;0.108	T	0.43956	-0.9359	10	0.48119	T	0.1	-15.813	19.4376	0.94804	0.0:1.0:0.0:0.0	.	133;168;168	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	V	226;226;226;168;133	ENSP00000356354:A226V;ENSP00000356348:A226V;ENSP00000420813:A226V;ENSP00000356350:A168V;ENSP00000438247:A133V	ENSP00000356348:A226V	A	+	2	0	PCMT1	150159328	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.731000	0.84895	2.605000	0.88082	0.563000	0.77884	GCG		0.408	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			Missense_Mutation
RAET1E	135250	broad.mit.edu	37	6	150210578	150210578	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:150210578C>T	ENST00000357183.4	-	3	660	c.528G>A	c.(526-528)ggG>ggA	p.G176G	RAET1E_ENST00000367363.3_Silent_p.G140G|RAET1E_ENST00000532335.1_Silent_p.G176G|RAET1E_ENST00000529948.1_Silent_p.G176G|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	176	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.G176G(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACTTTTCCAGCCCTCTGTCTT	0.473																																					p.G176G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	6						.						168.0	157.0	161.0					6																	150210578		2203	4300	6503	150252271	SO:0001819	synonymous_variant	135250	exon3			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.528G>A	6.37:g.150210578C>T			150252271	NM_139165	A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	CCDS5221.1																																																																																				0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165	
MTHFD1L	25902	broad.mit.edu	37	6	151243371	151243371	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151243371C>T	ENST00000367321.3	+	10	1289	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	339	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.R339C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GAGATGGCTTCGTGAACAGCA	0.483																																					p.R339C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1015T	6						.						235.0	192.0	207.0					6																	151243371		2203	4300	6503	151285064	SO:0001583	missense	25902	exon10			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1015C>T	6.37:g.151243371C>T	ENSP00000356290:p.Arg339Cys		151285064	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558607	0.65538	.	.	ENSG00000120254	ENST00000367321;ENST00000441122	T;T	0.45276	2.71;0.9	5.26	3.44	0.39384	.	0.165679	0.53938	D	0.000056	T	0.14442	0.0349	L	0.29908	0.895	0.25026	N	0.991306	D;P;D	0.64830	0.994;0.93;0.994	B;B;B	0.43123	0.409;0.39;0.409	T	0.05852	-1.0860	10	0.72032	D	0.01	.	5.6733	0.17735	0.1293:0.5516:0.2474:0.0717	.	340;94;339	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	C	339;10	ENSP00000356290:R339C;ENSP00000407070:R10C	ENSP00000356290:R339C	R	+	1	0	MTHFD1L	151285064	0.070000	0.21116	0.175000	0.22980	0.992000	0.81027	0.898000	0.28404	1.191000	0.43056	0.650000	0.86243	CGT		0.483	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
MTHFD1L	25902	broad.mit.edu	37	6	151330992	151330992	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151330992G>T	ENST00000367321.3	+	21	2437	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	721	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.E721D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TCGGAATGGAGAAATTCTTCA	0.498																																					p.E721D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2163T	6						.						145.0	138.0	141.0					6																	151330992		2203	4300	6503	151372685	SO:0001583	missense	25902	exon21			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2163G>T	6.37:g.151330992G>T	ENSP00000356290:p.Glu721Asp		151372685	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520042	0.85495	.	.	ENSG00000120254	ENST00000367321	T	0.33654	1.4	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	H	0.99525	4.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	D	0.87231	0.2260	10	0.87932	D	0	.	17.0632	0.86553	0.0:0.0:1.0:0.0	.	722;476;721	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	D	721	ENSP00000356290:E721D	ENSP00000356290:E721D	E	+	3	2	MTHFD1L	151372685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.757000	0.62213	2.010000	0.58986	0.650000	0.86243	GAG		0.498	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
AKAP12	9590	broad.mit.edu	37	6	151672474	151672474	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151672474G>T	ENST00000253332.1	+	3	3137	c.2948G>T	c.(2947-2949)gGg>gTg	p.G983V	AKAP12_ENST00000354675.6_Missense_Mutation_p.G885V|AKAP12_ENST00000359755.5_Missense_Mutation_p.G878V|AKAP12_ENST00000402676.2_Missense_Mutation_p.G983V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	983					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.G983V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAAACTGCAGGGCCATTGGGT	0.572																																					p.G983V	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2948T	6						.						67.0	66.0	66.0					6																	151672474		2203	4300	6503	151714167	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2948G>T	6.37:g.151672474G>T	ENSP00000253332:p.Gly983Val		151714167	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.781012	0.31502	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	5.04	1.38	0.22167	.	0.833475	0.10066	N	0.720366	T	0.02380	0.0073	L	0.40543	1.245	0.26411	N	0.976258	P;P;P	0.41265	0.744;0.744;0.627	B;B;B	0.38327	0.271;0.211;0.139	T	0.45234	-0.9275	10	0.35671	T	0.21	.	7.6098	0.28124	0.7577:0.0:0.2423:0.0	.	878;885;983	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	V	983;983;885;878	ENSP00000384537:G983V;ENSP00000253332:G983V;ENSP00000346702:G885V;ENSP00000352794:G878V	ENSP00000253332:G983V	G	+	2	0	AKAP12	151714167	0.490000	0.26012	0.007000	0.13788	0.013000	0.08279	0.816000	0.27267	0.007000	0.14760	-0.379000	0.06801	GGG		0.572	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	broad.mit.edu	37	6	151672668	151672668	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151672668G>A	ENST00000253332.1	+	3	3331	c.3142G>A	c.(3142-3144)Gaa>Aaa	p.E1048K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E950K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E943K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1048K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1048					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E1048K(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAGTGGCAGAAAAAGTGAA	0.587																																					p.E1048K	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3142A	6						.						49.0	53.0	52.0					6																	151672668		2203	4300	6503	151714361	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3142G>A	6.37:g.151672668G>A	ENSP00000253332:p.Glu1048Lys		151714361	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491826	0.84962	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.26	5.26	0.73747	.	0.162443	0.29522	N	0.011904	T	0.18045	0.0433	L	0.32530	0.975	0.48975	D	0.999733	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.65443	0.935;0.935;0.862	T	0.02115	-1.1211	10	0.37606	T	0.19	.	18.8893	0.92392	0.0:0.0:1.0:0.0	.	943;950;1048	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1048;1048;950;943	ENSP00000384537:E1048K;ENSP00000253332:E1048K;ENSP00000346702:E950K;ENSP00000352794:E943K	ENSP00000253332:E1048K	E	+	1	0	AKAP12	151714361	1.000000	0.71417	0.973000	0.42090	0.616000	0.37450	8.968000	0.93407	2.462000	0.83206	0.455000	0.32223	GAA		0.587	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	broad.mit.edu	37	6	151673370	151673370	+	Missense_Mutation	SNP	G	G	A	rs368517285		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151673370G>A	ENST00000253332.1	+	3	4033	c.3844G>A	c.(3844-3846)Gaa>Aaa	p.E1282K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1184K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1177K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1282K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1282					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E1282K(3)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACCATTTTTCGAAGGACTTGA	0.458																																					p.E1282K	Melanoma(141;1616 1805 10049 24534 51979)											.	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.G3844A	6						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	82.0	79.0	80.0		3550,3844	-1.4	0.0	6		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP12	NM_144497.2,NM_005100.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1184/1685,1282/1783	151673370	1,13005	2203	4300	6503	151715063	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3844G>A	6.37:g.151673370G>A	ENSP00000253332:p.Glu1282Lys		151715063	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.059	0.767736	0.15983	0.0	1.16E-4	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	4.48	-1.38	0.09027	.	1.166780	0.06567	N	0.747894	T	0.00967	0.0032	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.48885	-0.8995	10	0.18710	T	0.47	.	1.0087	0.01492	0.3548:0.1151:0.3179:0.2122	.	1177;1184;1282	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1282;1282;1184;1177	ENSP00000384537:E1282K;ENSP00000253332:E1282K;ENSP00000346702:E1184K;ENSP00000352794:E1177K	ENSP00000253332:E1282K	E	+	1	0	AKAP12	151715063	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.435000	0.21510	-0.217000	0.10033	-0.252000	0.11476	GAA		0.458	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
AKAP12	9590	broad.mit.edu	37	6	151673522	151673522	+	Silent	SNP	C	C	T	rs142473808		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151673522C>T	ENST00000253332.1	+	3	4185	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	AKAP12_ENST00000354675.6_Silent_p.P1234P|AKAP12_ENST00000359755.5_Silent_p.P1227P|AKAP12_ENST00000402676.2_Silent_p.P1332P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1332					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.P1332P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CTCCATCCCCCGTGGAGAGAG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		22842	0.001		0.0	False		,,,				2504	0.0				p.P1332P	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3996T	6						.	C	,	1,4405	2.1+/-5.4	0,1,2202	93.0	89.0	90.0		3996,3702	-1.5	0.0	6	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AKAP12	NM_005100.3,NM_144497.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1332/1783,1234/1685	151673522	1,13005	2203	4300	6503	151715215	SO:0001819	synonymous_variant	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3996C>T	6.37:g.151673522C>T			151715215	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																				0.478	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
ZBTB2	57621	broad.mit.edu	37	6	151694683	151694683	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151694683G>A	ENST00000325144.4	-	2	230	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	30	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.I30I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATACATCGCCGATTGCAACCG	0.408																																					p.I30I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	6						.						145.0	135.0	138.0					6																	151694683		2203	4300	6503	151736376	SO:0001819	synonymous_variant	57621	exon2			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.90C>T	6.37:g.151694683G>A			151736376	NM_020861	A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	CCDS5231.1																																																																																				0.408	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861	
CCDC170	80129	broad.mit.edu	37	6	151857562	151857562	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151857562T>G	ENST00000239374.7	+	2	266	c.167T>G	c.(166-168)tTt>tGt	p.F56C	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.F56C	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	56								p.F56C(1)									TTGGTCAAATTTGAATGTGCT	0.443																																					p.F56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T167G	6						.						86.0	83.0	84.0					6																	151857562		1909	4123	6032	151899255	SO:0001583	missense	80129	exon2			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.167T>G	6.37:g.151857562T>G	ENSP00000239374:p.Phe56Cys		151899255	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756574	0.49362	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08546	3.08;3.08	5.8	5.8	0.92144	.	0.264750	0.36778	N	0.002410	T	0.14184	0.0343	M	0.75447	2.3	0.29565	N	0.850368	D	0.76494	0.999	D	0.69654	0.965	T	0.11916	-1.0568	10	0.39692	T	0.17	-8.6959	9.6723	0.40019	0.2597:0.0:0.0:0.7403	.	56	Q8IYT3	CF097_HUMAN	C	56	ENSP00000239374:F56C;ENSP00000356259:F56C	ENSP00000239374:F56C	F	+	2	0	C6orf97	151899255	1.000000	0.71417	0.988000	0.46212	0.528000	0.34623	4.450000	0.60041	2.216000	0.71823	0.528000	0.53228	TTT		0.443	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151859200	151859200	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151859200G>T	ENST00000239374.7	+	3	306	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.K69N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	69								p.K69N(1)									TCCGATCCAAGATGCTTTCTA	0.358																																					p.K69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G207T	6						.						61.0	56.0	58.0					6																	151859200		1812	4085	5897	151900893	SO:0001583	missense	80129	exon3			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.207G>T	6.37:g.151859200G>T	ENSP00000239374:p.Lys69Asn		151900893	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810948	0.50421	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09817	2.94;2.94	5.53	2.63	0.31362	.	0.053556	0.64402	D	0.000001	T	0.07188	0.0182	M	0.75447	2.3	0.26627	N	0.972534	P	0.45827	0.867	P	0.46629	0.522	T	0.14254	-1.0479	10	0.59425	D	0.04	-42.1112	5.8804	0.18852	0.3638:0.1269:0.5093:0.0	.	69	Q8IYT3	CF097_HUMAN	N	69	ENSP00000239374:K69N;ENSP00000356259:K69N	ENSP00000239374:K69N	K	+	3	2	C6orf97	151900893	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	0.769000	0.26604	0.235000	0.21160	0.650000	0.86243	AAG		0.358	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151894594	151894594	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151894594G>A	ENST00000239374.7	+	6	1159	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	CCDC170_ENST00000367290.5_Missense_Mutation_p.E354K	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	354								p.E354K(1)									GAAGATTCGAGAAATGGACAG	0.493																																					p.E354K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060A	6						.						51.0	53.0	52.0					6																	151894594		1923	4128	6051	151936287	SO:0001583	missense	80129	exon6			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1060G>A	6.37:g.151894594G>A	ENSP00000239374:p.Glu354Lys		151936287	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973921	0.74246	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09255	3.0;3.0	5.55	5.55	0.83447	.	0.105878	0.64402	D	0.000006	T	0.08802	0.0218	M	0.76574	2.34	0.49130	D	0.999751	P	0.38110	0.618	B	0.29862	0.108	T	0.03922	-1.0992	10	0.49607	T	0.09	-23.9043	18.0488	0.89341	0.0:0.0:1.0:0.0	.	354	Q8IYT3	CF097_HUMAN	K	354	ENSP00000239374:E354K;ENSP00000356259:E354K	ENSP00000239374:E354K	E	+	1	0	C6orf97	151936287	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	4.929000	0.63455	2.776000	0.95493	0.643000	0.83706	GAA		0.493	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
CCDC170	80129	broad.mit.edu	37	6	151936783	151936783	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:151936783C>A	ENST00000239374.7	+	10	2015	c.1916C>A	c.(1915-1917)tCt>tAt	p.S639Y	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.S646Y	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	639								p.S639Y(1)									CTAAAAAAATCTCTGGAAGAA	0.383																																					p.S639Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1916A	6						.						131.0	128.0	129.0					6																	151936783		1822	4076	5898	151978476	SO:0001583	missense	80129	exon10			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1916C>A	6.37:g.151936783C>A	ENSP00000239374:p.Ser639Tyr		151978476	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487687	0.84854	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.09538	2.97;2.97	5.95	5.95	0.96441	.	0.178650	0.47852	D	0.000203	T	0.22742	0.0549	M	0.68317	2.08	0.38968	D	0.958687	D	0.65815	0.995	P	0.59643	0.861	T	0.00229	-1.1898	10	0.54805	T	0.06	0.1688	20.3967	0.98985	0.0:1.0:0.0:0.0	.	639	Q8IYT3	CF097_HUMAN	Y	639;646	ENSP00000239374:S639Y;ENSP00000356259:S646Y	ENSP00000239374:S639Y	S	+	2	0	C6orf97	151978476	0.229000	0.23729	0.967000	0.41034	0.970000	0.65996	2.508000	0.45450	2.829000	0.97493	0.655000	0.94253	TCT		0.383	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
SYNE1	23345	broad.mit.edu	37	6	152551733	152551733	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152551733C>T	ENST00000367255.5	-	115	21745	c.21144G>A	c.(21142-21144)caG>caA	p.Q7048Q	SYNE1_ENST00000448038.1_Silent_p.Q6977Q|SYNE1_ENST00000423061.1_Silent_p.Q6977Q|SYNE1_ENST00000356820.4_Silent_p.Q1572Q|SYNE1_ENST00000341594.5_Silent_p.Q6660Q|SYNE1_ENST00000265368.4_Silent_p.Q7048Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7048					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q7048Q(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAATTCGATGCTGTTGTTTTA	0.398										HNSCC(10;0.0054)																											p.Q1572Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4716A	6						.						254.0	212.0	226.0					6																	152551733		2203	4300	6503	152593426	SO:0001819	synonymous_variant	23345	exon30			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21144G>A	6.37:g.152551733C>T			152593426	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152565708	152565708	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152565708G>A	ENST00000367255.5	-	106	20257	c.19656C>T	c.(19654-19656)gtC>gtT	p.V6552V	SYNE1_ENST00000448038.1_Silent_p.V6481V|SYNE1_ENST00000423061.1_Silent_p.V6481V|SYNE1_ENST00000356820.4_Silent_p.V1076V|SYNE1_ENST00000341594.5_Silent_p.V6164V|SYNE1_ENST00000265368.4_Silent_p.V6552V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6552					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V6552V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGGCTGCTCGACCTGTAGCT	0.453										HNSCC(10;0.0054)																											p.V1076V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3228T	6						.						173.0	155.0	161.0					6																	152565708		2203	4300	6503	152607401	SO:0001819	synonymous_variant	23345	exon21			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19656C>T	6.37:g.152565708G>A			152607401	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152615173	152615173	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152615173G>T	ENST00000367255.5	-	94	18373	c.17772C>A	c.(17770-17772)ttC>ttA	p.F5924L	SYNE1_ENST00000448038.1_Missense_Mutation_p.F5853L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F5853L|SYNE1_ENST00000356820.4_Missense_Mutation_p.F448L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F5536L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F5924L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5924					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F5924L(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCGGTTCATAGAACTCCTGGG	0.493										HNSCC(10;0.0054)																											p.F448L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1344A	6						.						103.0	94.0	97.0					6																	152615173		2203	4300	6503	152656866	SO:0001583	missense	23345	exon9			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17772C>A	6.37:g.152615173G>T	ENSP00000356224:p.Phe5924Leu		152656866	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.016964	0.00418	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.39406	1.17;1.14;1.08;1.21;1.22;2.91;1.17	4.69	1.82	0.25136	.	0.614797	0.14259	N	0.330946	T	0.05823	0.0152	N	0.04508	-0.205	0.24662	N	0.99346	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44937	-0.9295	10	0.13108	T	0.6	.	8.8784	0.35358	0.1365:0.3697:0.4938:0.0	.	339;5924;5924;5853	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	L	5924;5853;5924;5853;5536;448;99;146	ENSP00000356224:F5924L;ENSP00000396024:F5853L;ENSP00000265368:F5924L;ENSP00000390975:F5853L;ENSP00000341887:F5536L;ENSP00000349276:F448L;ENSP00000437411:F99L	ENSP00000265368:F5924L	F	-	3	2	SYNE1	152656866	0.984000	0.35163	0.776000	0.31678	0.123000	0.20343	0.244000	0.18124	-0.187000	0.10516	-1.273000	0.01405	TTC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152642463	152642463	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152642463C>A	ENST00000367255.5	-	84	16747	c.16146G>T	c.(16144-16146)aaG>aaT	p.K5382N	SYNE1_ENST00000448038.1_Missense_Mutation_p.K5311N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5311N|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5055N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5382N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5382					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K5382N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTACTTCTCCTTCTGTTCTT	0.388										HNSCC(10;0.0054)																											p.K5311N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G15933T	6						.						112.0	106.0	108.0					6																	152642463		2203	4300	6503	152684156	SO:0001583	missense	23345	exon83			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16146G>T	6.37:g.152642463C>A	ENSP00000356224:p.Lys5382Asn		152684156	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312540	0.23908	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.59906	0.32;0.27;0.23;0.27;0.45	5.38	1.04	0.20106	.	0.118890	0.38663	N	0.001619	T	0.36468	0.0968	L	0.51422	1.61	0.80722	D	1	P;P;P;P	0.47762	0.9;0.704;0.704;0.804	B;B;B;B	0.42522	0.39;0.165;0.165;0.311	T	0.34004	-0.9846	10	0.62326	D	0.03	.	11.1891	0.48675	0.0:0.6418:0.0:0.3581	.	5382;5382;5382;5311	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5382;5311;5382;5311;5055	ENSP00000356224:K5382N;ENSP00000396024:K5311N;ENSP00000265368:K5382N;ENSP00000390975:K5311N;ENSP00000341887:K5055N	ENSP00000265368:K5382N	K	-	3	2	SYNE1	152684156	0.999000	0.42202	0.960000	0.40013	0.741000	0.42261	0.717000	0.25851	0.259000	0.21709	-0.150000	0.13652	AAG		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152642938	152642938	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152642938G>T	ENST00000367255.5	-	83	16602	c.16001C>A	c.(16000-16002)tCt>tAt	p.S5334Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.S5263Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5263Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5007Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5334Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5334					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S5334Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACATTTCACAGAATTGATCTG	0.398										HNSCC(10;0.0054)																											p.S5263Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C15788A	6						.						172.0	162.0	166.0					6																	152642938		2203	4300	6503	152684631	SO:0001583	missense	23345	exon82			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16001C>A	6.37:g.152642938G>T	ENSP00000356224:p.Ser5334Tyr		152684631	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897790	0.33535	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55930	0.58;0.58;0.49;0.58;0.66	5.53	5.53	0.82687	.	0.230089	0.31082	N	0.008285	T	0.49064	0.1535	M	0.62723	1.935	0.80722	D	1	D;P;P;P	0.61080	0.989;0.793;0.793;0.868	P;B;B;B	0.53649	0.731;0.176;0.176;0.397	T	0.55921	-0.8064	10	0.52906	T	0.07	.	8.6015	0.33747	0.0825:0.0:0.7628:0.1547	.	5334;5334;5334;5263	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	5334;5263;5334;5263;5007	ENSP00000356224:S5334Y;ENSP00000396024:S5263Y;ENSP00000265368:S5334Y;ENSP00000390975:S5263Y;ENSP00000341887:S5007Y	ENSP00000265368:S5334Y	S	-	2	0	SYNE1	152684631	0.278000	0.24230	0.995000	0.50966	0.978000	0.69477	3.692000	0.54727	2.605000	0.88082	0.655000	0.94253	TCT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152650912	152650912	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152650912G>A	ENST00000367255.5	-	78	15509	c.14908C>T	c.(14908-14910)Ctc>Ttc	p.L4970F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4899F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4899F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4717F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4970F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4970					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L4970F(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCTGAGAGCTCAGCGAGG	0.468										HNSCC(10;0.0054)																											p.L4899F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14695T	6						.						154.0	157.0	156.0					6																	152650912		2203	4300	6503	152692605	SO:0001583	missense	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14908C>T	6.37:g.152650912G>A	ENSP00000356224:p.Leu4970Phe		152692605	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287068	0.59867	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	6.03	6.03	0.97812	.	0.000000	0.52532	D	0.000065	T	0.73401	0.3582	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.998	D;P;P;D	0.71870	0.975;0.889;0.889;0.944	T	0.71034	-0.4709	10	0.51188	T	0.08	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	4970;4970;4970;4899	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	4970;4899;4970;4899;4717	ENSP00000356224:L4970F;ENSP00000396024:L4899F;ENSP00000265368:L4970F;ENSP00000390975:L4899F;ENSP00000341887:L4717F	ENSP00000265368:L4970F	L	-	1	0	SYNE1	152692605	1.000000	0.71417	0.770000	0.31555	0.940000	0.58332	6.177000	0.71961	2.861000	0.98227	0.655000	0.94253	CTC		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152651968	152651968	+	Missense_Mutation	SNP	G	G	T	rs147125369		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152651968G>T	ENST00000367255.5	-	78	14453	c.13852C>A	c.(13852-13854)Ctt>Att	p.L4618I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4547I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4547I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4365I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4618I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4618					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L4618I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAAGTAGAAGATTTTCATAT	0.393										HNSCC(10;0.0054)																											p.L4547I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C13639A	6						.	G	ILE/LEU,ILE/LEU	0,4406		0,0,2203	164.0	165.0	165.0		13639,13852	6.0	0.4	6	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	5,5	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	4547/8750,4618/8798	152651968	1,13005	2203	4300	6503	152693661	SO:0001583	missense	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13852C>A	6.37:g.152651968G>T	ENSP00000356224:p.Leu4618Ile		152693661	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271828	0.59649	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54866	1.34;1.34;1.34;1.34;0.55	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000030	T	0.64692	0.2621	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.53975	-0.8362	10	0.17369	T	0.5	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	4618;4618;4618;4547	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	4618;4547;4618;4547;4365	ENSP00000356224:L4618I;ENSP00000396024:L4547I;ENSP00000265368:L4618I;ENSP00000390975:L4547I;ENSP00000341887:L4365I	ENSP00000265368:L4618I	L	-	1	0	SYNE1	152693661	1.000000	0.71417	0.430000	0.26722	0.893000	0.52053	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CTT		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152674833	152674833	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152674833A>C	ENST00000367255.5	-	68	11574	c.10973T>G	c.(10972-10974)gTg>gGg	p.V3658G	SYNE1_ENST00000448038.1_Missense_Mutation_p.V3643G|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3643G|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3629G|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3658G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3658					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTAGCTCCCACTTCCTCAAC	0.498										HNSCC(10;0.0054)																											p.V3643G												.	.	0			c.T10928G	6						.						163.0	138.0	147.0					6																	152674833		2203	4300	6503	152716526	SO:0001583	missense	23345	exon68			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10973T>G	6.37:g.152674833A>C	ENSP00000356224:p.Val3658Gly		152716526	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960782	0.53400	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000054	T	0.51669	0.1688	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67725	0.925;0.925;0.925;0.953	T	0.53767	-0.8392	10	0.52906	T	0.07	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	3658;3658;3658;3643	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	3658;3643;3658;3643;3629	ENSP00000356224:V3658G;ENSP00000396024:V3643G;ENSP00000265368:V3658G;ENSP00000390975:V3643G;ENSP00000341887:V3629G	ENSP00000265368:V3658G	V	-	2	0	SYNE1	152716526	1.000000	0.71417	0.983000	0.44433	0.466000	0.32739	8.962000	0.93254	2.194000	0.70268	0.533000	0.62120	GTG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152680581	152680581	+	Missense_Mutation	SNP	C	C	T	rs550171329		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152680581C>T	ENST00000367255.5	-	65	10913	c.10312G>A	c.(10312-10314)Gaa>Aaa	p.E3438K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E3445K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3445K|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3438K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3438					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E3438K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCACTTCTTCATTTAAT	0.413										HNSCC(10;0.0054)																											p.E3445K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10333A	6						.						94.0	85.0	88.0					6																	152680581		2203	4300	6503	152722274	SO:0001583	missense	23345	exon65			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10312G>A	6.37:g.152680581C>T	ENSP00000356224:p.Glu3438Lys		152722274	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209986	0.79240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000024	T	0.59569	0.2203	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74674	0.968;0.968;0.968;0.984	T	0.55817	-0.8081	10	0.27082	T	0.32	.	18.1974	0.89828	0.0:1.0:0.0:0.0	.	3438;3438;3438;3445	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	3438;3445;3438;3445	ENSP00000356224:E3438K;ENSP00000396024:E3445K;ENSP00000265368:E3438K;ENSP00000390975:E3445K	ENSP00000265368:E3438K	E	-	1	0	SYNE1	152722274	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.354000	0.79902	0.650000	0.86243	GAA		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152690652	152690652	+	Missense_Mutation	SNP	C	C	T	rs146769373	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152690652C>T	ENST00000367255.5	-	60	10206	c.9605G>A	c.(9604-9606)cGc>cAc	p.R3202H	SYNE1_ENST00000448038.1_Missense_Mutation_p.R3209H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3209H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3241H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3202H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3202					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R3202H(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATAGAGGCGATTGCTGCT	0.512										HNSCC(10;0.0054)			C|||	9	0.00179712	0.0053	0.0014	5008	,	,		18257	0.0		0.0	False		,,,				2504	0.001				p.R3209H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9626A	6						.	C	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	140.0	121.0	127.0		9626,9605	5.4	1.0	6	dbSNP_134	127	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	3209/8750,3202/8798	152690652	3,13003	2203	4300	6503	152732345	SO:0001583	missense	23345	exon60			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9605G>A	6.37:g.152690652C>T	ENSP00000356224:p.Arg3202His		152732345	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	8|8	0.003663003663003663|0.003663003663003663	7|7	0.014227642276422764|0.014227642276422764	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	21.4|21.4	4.136295|4.136295	0.77662|0.77662	6.81E-4|6.81E-4	0.0|0.0	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33;1.33	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.56097	.|D	.|0.000022	T|T	0.43411|0.43411	0.1246|0.1246	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.17018|0.17018	-1.0383|-1.0383	5|10	.|0.36615	.|T	.|0.2	.|.	19.1929|19.1929	0.93674|0.93674	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3202;319;3202;3209	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	T|H	319|3202;3209;3202;3209;3241	.|ENSP00000356224:R3202H;ENSP00000396024:R3209H;ENSP00000265368:R3202H;ENSP00000390975:R3209H;ENSP00000341887:R3241H	.|ENSP00000265368:R3202H	A|R	-|-	1|2	0|0	SYNE1|SYNE1	152732345|152732345	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.472000|0.472000	0.32918|0.32918	5.766000|5.766000	0.68843|0.68843	2.540000|2.540000	0.85666|0.85666	0.551000|0.551000	0.68910|0.68910	GCC|CGC		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152694198	152694198	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152694198G>T	ENST00000367255.5	-	59	10082	c.9481C>A	c.(9481-9483)Ctc>Atc	p.L3161I	SYNE1_ENST00000448038.1_Missense_Mutation_p.L3168I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3168I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3200I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3161I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3161					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L3161I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTGGTGGAGATTTGAATGA	0.388										HNSCC(10;0.0054)																											p.L3168I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9502A	6						.						196.0	207.0	203.0					6																	152694198		2203	4300	6503	152735891	SO:0001583	missense	23345	exon59			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9481C>A	6.37:g.152694198G>T	ENSP00000356224:p.Leu3161Ile		152735891	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.901477|4.901477	0.92035|0.92035	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000469439	T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.72382|0.72382	0.3453|0.3453	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.997;0.997;0.997;0.999|.	T|T	0.68735|0.68735	-0.5330|-0.5330	10|5	0.08837|.	T|.	0.75|.	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3161;278;3161;3168|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	I|Y	3161;3168;3161;3168;3200|25	ENSP00000356224:L3161I;ENSP00000396024:L3168I;ENSP00000265368:L3161I;ENSP00000390975:L3168I;ENSP00000341887:L3200I|.	ENSP00000265368:L3161I|.	L|S	-|-	1|2	0|0	SYNE1|SYNE1	152735891|152735891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	7.489000|7.489000	0.81451|0.81451	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152697995	152697995	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152697995G>A	ENST00000367255.5	-	57	9663	c.9062C>T	c.(9061-9063)tCt>tTt	p.S3021F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S3028F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3028F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S3060F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3021F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3021					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S3021F(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCAGCTGAGACTTGAGATC	0.408										HNSCC(10;0.0054)																											p.S3028F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9083T	6						.						91.0	85.0	87.0					6																	152697995		2203	4300	6503	152739688	SO:0001583	missense	23345	exon57			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9062C>T	6.37:g.152697995G>A	ENSP00000356224:p.Ser3021Phe		152739688	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.011175|4.011175	0.75046|0.75046	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.56941	.|0.53;0.55;0.43;0.55;0.65	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.208444	.|0.33792	.|N	.|0.004546	T|T	0.32556|0.32556	0.0833|0.0833	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.50710	.|0.855;0.898;0.883;0.898;0.938	.|B;B;B;B;P	.|0.47705	.|0.365;0.352;0.341;0.352;0.555	T|T	0.09751|0.09751	-1.0660|-1.0660	5|10	.|0.10377	.|T	.|0.69	.|.	19.3499|19.3499	0.94379|0.94379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3004;3021;138;3021;3028	.|B3W695;Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.;.	F|F	138|3021;3028;3021;3028;3060	.|ENSP00000356224:S3021F;ENSP00000396024:S3028F;ENSP00000265368:S3021F;ENSP00000390975:S3028F;ENSP00000341887:S3060F	.|ENSP00000265368:S3021F	L|S	-|-	1|2	0|0	SYNE1|SYNE1	152739688|152739688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.180000|5.180000	0.65048|0.65048	2.585000|2.585000	0.87301|0.87301	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152702484	152702484	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152702484G>T	ENST00000367255.5	-	56	9267	c.8666C>A	c.(8665-8667)tCc>tAc	p.S2889Y	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2896Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2896Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2928Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2889Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2889					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S2889Y(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCTCTCTGGAATCTATCAG	0.517										HNSCC(10;0.0054)																											p.S2896Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8687A	6						.						116.0	118.0	118.0					6																	152702484		2203	4300	6503	152744177	SO:0001583	missense	23345	exon56			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8666C>A	6.37:g.152702484G>T	ENSP00000356224:p.Ser2889Tyr		152744177	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.408908|4.408908	0.83340|0.83340	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.57907	.|0.46;0.49;0.37;0.5;0.58	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.69593|0.69593	0.3128|0.3128	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.972;0.979;0.979;0.991	T|T	0.69146|0.69146	-0.5222|-0.5222	5|10	.|0.62326	.|D	.|0.03	.|.	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2872;2889;2889;2896	.|B3W695;Q8NF91;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.	T|Y	6|2889;2896;2889;2896;2928	.|ENSP00000356224:S2889Y;ENSP00000396024:S2896Y;ENSP00000265368:S2889Y;ENSP00000390975:S2896Y;ENSP00000341887:S2928Y	.|ENSP00000265368:S2889Y	P|S	-|-	1|2	0|0	SYNE1|SYNE1	152744177|152744177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.196000|9.196000	0.94978|0.94978	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	CCA|TCC		0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152708384	152708384	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152708384G>A	ENST00000367255.5	-	54	8911	c.8310C>T	c.(8308-8310)ttC>ttT	p.F2770F	SYNE1_ENST00000448038.1_Silent_p.F2777F|SYNE1_ENST00000423061.1_Silent_p.F2777F|SYNE1_ENST00000341594.5_Silent_p.F2809F|SYNE1_ENST00000265368.4_Silent_p.F2770F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2770					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F2770F(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAAGCAGGACGAACTTCTCTT	0.483										HNSCC(10;0.0054)																											p.F2777F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C8331T	6						.						265.0	230.0	242.0					6																	152708384		2203	4300	6503	152750077	SO:0001819	synonymous_variant	23345	exon54			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8310C>T	6.37:g.152708384G>A			152750077	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152823852	152823852	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152823852C>A	ENST00000367255.5	-	10	1405	c.804G>T	c.(802-804)gaG>gaT	p.E268D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E275D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E275D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E268D|SYNE1_ENST00000466159.2_Missense_Mutation_p.E268D|SYNE1_ENST00000413186.2_Missense_Mutation_p.E268D|SYNE1_ENST00000367248.3_Missense_Mutation_p.E275D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E268D|SYNE1_ENST00000367253.4_Missense_Mutation_p.E268D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	268	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E268D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAATAGATTTCTCATCTGGTT	0.343										HNSCC(10;0.0054)																											p.E275D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G825T	6						.						135.0	123.0	127.0					6																	152823852		2203	4300	6503	152865545	SO:0001583	missense	23345	exon10			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.804G>T	6.37:g.152823852C>A	ENSP00000356224:p.Glu268Asp		152865545	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043571	0.36085	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	4.83	2.03	0.26663	Calponin homology domain (5);	0.272343	0.25166	U	0.032639	D	0.96664	0.8911	M	0.84156	2.68	0.80722	D	1	B;B;B;B;D	0.67145	0.005;0.44;0.01;0.44;0.996	B;B;B;B;D	0.65987	0.015;0.356;0.019;0.356;0.94	D	0.95639	0.8696	10	0.87932	D	0	.	7.6866	0.28544	0.0:0.6126:0.0:0.3874	.	268;268;268;268;275	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	D	268;275;268;275;268;268;275;268;268;268	ENSP00000356224:E268D;ENSP00000396024:E275D;ENSP00000265368:E268D;ENSP00000390975:E275D;ENSP00000341887:E268D;ENSP00000356222:E268D;ENSP00000356217:E275D;ENSP00000414510:E268D;ENSP00000446021:E268D;ENSP00000441264:E268D	ENSP00000265368:E268D	E	-	3	2	SYNE1	152865545	0.969000	0.33509	1.000000	0.80357	0.938000	0.57974	0.140000	0.16056	0.454000	0.26884	-0.162000	0.13425	GAG		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152841605	152841605	+	Missense_Mutation	SNP	C	C	T	rs187117263		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:152841605C>T	ENST00000367255.5	-	6	899	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E100K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E100K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E100K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E100K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E100K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E100K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E100K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E100K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E100K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTTCCTTCGAGGAACTTG	0.443										HNSCC(10;0.0054)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		17625	0.0		0.0	False		,,,				2504	0.0				p.E100K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G298A	6						.						141.0	140.0	140.0					6																	152841605		2203	4300	6503	152883298	SO:0001583	missense	23345	exon5			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.298G>A	6.37:g.152841605C>T	ENSP00000356224:p.Glu100Lys		152883298	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	34	5.321335	0.95682	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42;-3.42	5.45	5.45	0.79879	Calponin homology domain (5);	0.000000	0.64402	D	0.000010	D	0.91157	0.7215	N	0.02412	-0.56	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;0.999	D;D;P;D;D	0.70716	0.97;0.945;0.88;0.945;0.909	D	0.93930	0.7213	10	0.49607	T	0.09	.	19.6439	0.95769	0.0:1.0:0.0:0.0	.	100;100;100;100;100	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	100	ENSP00000356224:E100K;ENSP00000396024:E100K;ENSP00000265368:E100K;ENSP00000390975:E100K;ENSP00000341887:E100K;ENSP00000356222:E100K;ENSP00000356217:E100K;ENSP00000414510:E100K;ENSP00000446021:E100K;ENSP00000441264:E100K	ENSP00000265368:E100K	E	-	1	0	SYNE1	152883298	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.187000	0.77730	2.716000	0.92895	0.650000	0.86243	GAA		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FBXO5	26271	broad.mit.edu	37	6	153296106	153296106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:153296106G>A	ENST00000229758.3	-	2	812	c.754C>T	c.(754-756)Cga>Tga	p.R252*	FBXO5_ENST00000477822.1_5'Flank|FBXO5_ENST00000367241.3_Nonsense_Mutation_p.R206*	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	252	F-box.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R252*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		AGTCCCCTTCGAAAGAGTTCG	0.358																																					p.R252X	NSCLC(121;372 1757 17721 17977 29669)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C754T	6						.						120.0	123.0	122.0					6																	153296106		2203	4300	6503	153337799	SO:0001587	stop_gained	26271	exon2			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.754C>T	6.37:g.153296106G>A	ENSP00000229758:p.Arg252*		153337799	NM_012177	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Nonsense_Mutation	SNP	ENST00000229758.3	37	CCDS5242.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289943	0.95546	.	.	ENSG00000112029	ENST00000229758;ENST00000367241	.	.	.	6.07	3.21	0.36854	.	0.667620	0.16246	N	0.222939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0089	12.7641	0.57383	0.0:0.2354:0.6422:0.1224	.	.	.	.	X	252;206	.	ENSP00000229758:R252X	R	-	1	2	FBXO5	153337799	0.987000	0.35691	0.736000	0.30914	0.595000	0.36748	1.566000	0.36396	0.383000	0.24910	0.655000	0.94253	CGA		0.358	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042757.1		
MTRF1L	54516	broad.mit.edu	37	6	153311183	153311183	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:153311183T>C	ENST00000367233.5	-	7	989	c.990A>G	c.(988-990)ccA>ccG	p.P330P	MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	330						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.P330P(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CCCGGTTCTGTGGAAAATTAT	0.358																																					p.P330P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A990G	6						.						68.0	69.0	69.0					6																	153311183		2202	4295	6497	153352876	SO:0001819	synonymous_variant	54516	exon7			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.990A>G	6.37:g.153311183T>C			153352876	NM_019041	B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																				0.358	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041	
RGS17	26575	broad.mit.edu	37	6	153345514	153345514	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:153345514C>A	ENST00000367225.2	-	3	351	c.327G>T	c.(325-327)gaG>gaT	p.E109D	RGS17_ENST00000206262.1_Missense_Mutation_p.E109D			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	109	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E109D(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAAGTAGGTTCTCTTCACTGT	0.388																																					p.E109D	Esophageal Squamous(78;500 1236 6775 24364 49058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G327T	6						.						106.0	98.0	101.0					6																	153345514		2203	4300	6503	153387207	SO:0001583	missense	26575	exon4			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.327G>T	6.37:g.153345514C>A	ENSP00000356194:p.Glu109Asp		153387207	NM_012419	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714552	0.48622	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.37058	1.22;1.22	6.03	4.26	0.50523	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.044972	0.85682	D	0.000000	T	0.30039	0.0752	M	0.84326	2.69	0.80722	D	1	B	0.23377	0.084	B	0.32583	0.148	T	0.24225	-1.0166	10	0.66056	D	0.02	.	9.8584	0.41098	0.0:0.7936:0.0:0.2064	.	109	Q9UGC6	RGS17_HUMAN	D	109	ENSP00000356194:E109D;ENSP00000206262:E109D	ENSP00000206262:E109D	E	-	3	2	RGS17	153387207	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.155000	0.42301	0.877000	0.35895	0.655000	0.94253	GAG		0.388	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2		
SCAF8	22828	broad.mit.edu	37	6	155095158	155095158	+	Silent	SNP	G	G	A	rs559874211	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155095158G>A	ENST00000367178.3	+	2	642	c.66G>A	c.(64-66)tcG>tcA	p.S22S	SCAF8_ENST00000367186.4_Silent_p.S88S|SCAF8_ENST00000417268.1_Silent_p.S22S|SCAF8_ENST00000461219.1_3'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	22	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.S22S(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CACCCATTTCGAAAGCGAAAA	0.303													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17849	0.0		0.0	False		,,,				2504	0.0				p.S22S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G66A	6						.						126.0	128.0	127.0					6																	155095158		2203	4300	6503	155136850	SO:0001819	synonymous_variant	22828	exon2			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.66G>A	6.37:g.155095158G>A			155136850	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	CCDS5247.1																																																																																				0.303	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
SCAF8	22828	broad.mit.edu	37	6	155109056	155109056	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155109056G>A	ENST00000367178.3	+	4	797	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	SCAF8_ENST00000367186.4_Missense_Mutation_p.R140Q|SCAF8_ENST00000417268.1_Missense_Mutation_p.R74Q|SCAF8_ENST00000461219.1_3'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	74	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.R74Q(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGACAATCCCGACATCAGTTT	0.383																																					p.R74Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221A	6						.						159.0	150.0	153.0					6																	155109056		2203	4300	6503	155150748	SO:0001583	missense	22828	exon4			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.221G>A	6.37:g.155109056G>A	ENSP00000356146:p.Arg74Gln		155150748	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605672	0.87157	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.42513	0.97;0.97;0.97	5.27	5.27	0.74061	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.64402	U	0.000003	T	0.57315	0.2045	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.995;0.998	T	0.56511	-0.7967	10	0.51188	T	0.08	.	19.2563	0.93947	0.0:0.0:1.0:0.0	.	119;140;152;74	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	Q	74;74;140	ENSP00000356146:R74Q;ENSP00000413098:R74Q;ENSP00000356154:R140Q	ENSP00000356146:R74Q	R	+	2	0	SCAF8	155150748	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.621000	0.88768	0.655000	0.94253	CGA		0.383	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
SCAF8	22828	broad.mit.edu	37	6	155141455	155141455	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155141455A>G	ENST00000367178.3	+	15	2356	c.1780A>G	c.(1780-1782)Act>Gct	p.T594A	SCAF8_ENST00000367186.4_Missense_Mutation_p.T660A|SCAF8_ENST00000417268.1_Missense_Mutation_p.T594A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	594					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.T594A(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGATCAGGAGACTGTAAATAC	0.368																																					p.T594A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1780G	6						.						75.0	78.0	77.0					6																	155141455		2203	4300	6503	155183147	SO:0001583	missense	22828	exon15			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1780A>G	6.37:g.155141455A>G	ENSP00000356146:p.Thr594Ala		155183147	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463580	0.84425	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.67698	-0.25;-0.25;-0.28	5.33	5.33	0.75918	.	0.071533	0.56097	U	0.000039	T	0.69415	0.3108	M	0.81802	2.56	0.80722	D	1	P;P;P;P	0.51351	0.894;0.944;0.807;0.944	B;P;B;P	0.49708	0.437;0.62;0.294;0.62	T	0.75516	-0.3290	10	0.59425	D	0.04	.	15.6101	0.76710	1.0:0.0:0.0:0.0	.	639;660;672;594	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	A	594;594;660	ENSP00000356146:T594A;ENSP00000413098:T594A;ENSP00000356154:T660A	ENSP00000356146:T594A	T	+	1	0	SCAF8	155183147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.142000	0.66516	0.533000	0.62120	ACT		0.368	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
JARID2	3720	broad.mit.edu	37	6	15452403	15452403	+	Nonsense_Mutation	SNP	C	C	T	rs371399734		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:15452403C>T	ENST00000341776.2	+	4	734	c.490C>T	c.(490-492)Cga>Tga	p.R164*	JARID2_ENST00000541660.1_Nonsense_Mutation_p.R126*|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	164					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R164*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTGCCTTCGAGGTAAGAC	0.468																																					p.R164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C490T	6						.	C	stop/ARG	0,4406		0,0,2203	73.0	68.0	70.0		490	5.4	1.0	6		70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	JARID2	NM_004973.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/1247	15452403	1,13005	2203	4300	6503	15560382	SO:0001587	stop_gained	3720	exon4			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.490C>T	6.37:g.15452403C>T	ENSP00000341280:p.Arg164*		15560382	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Nonsense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	38	6.644455	0.97730	0.0	1.16E-4	ENSG00000008083	ENST00000341776;ENST00000541660	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5322	14.0707	0.64858	0.1506:0.8494:0.0:0.0	.	.	.	.	X	164;126	.	ENSP00000341280:R164X	R	+	1	2	JARID2	15560382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	2.513000	0.84729	0.655000	0.94253	CGA		0.468	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
TIAM2	26230	broad.mit.edu	37	6	155458622	155458622	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155458622G>T	ENST00000461783.3	+	7	2779	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	TIAM2_ENST00000318981.5_Missense_Mutation_p.K502N|TIAM2_ENST00000529824.2_Missense_Mutation_p.K502N|TIAM2_ENST00000360366.4_Missense_Mutation_p.K502N|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.K502N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	502					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K502N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCTTTGAGAAGGAACAGGGGG	0.552																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	6						.						70.0	76.0	74.0					6																	155458622		2203	4300	6503	155500314	SO:0001583	missense	26230	exon4				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1506G>T	6.37:g.155458622G>T	ENSP00000437188:p.Lys502Asn		155500314	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774439	0.70107	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.06371	3.42;3.31;3.38;3.42;3.43;3.38	6.08	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00099	-1.2068	10	0.42905	T	0.14	.	8.5601	0.33505	0.1492:0.1271:0.7237:0.0	.	502;502	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	N	502;748;502;502;502;502;502	ENSP00000437188:K502N;ENSP00000434901:K502N;ENSP00000407746:K502N;ENSP00000327315:K502N;ENSP00000353528:K502N;ENSP00000433348:K502N	ENSP00000327315:K502N	K	+	3	2	TIAM2	155500314	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.286000	0.33273	2.894000	0.99253	0.655000	0.94253	AAG		0.552	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
TIAM2	26230	broad.mit.edu	37	6	155578058	155578058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155578058C>T	ENST00000461783.3	+	29	6182	c.4909C>T	c.(4909-4911)Cga>Tga	p.R1637*	TIAM2_ENST00000275246.7_Nonsense_Mutation_p.R562*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R1637*|TIAM2_ENST00000528391.2_Nonsense_Mutation_p.R981*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R1666*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R1661*|TIAM2_ENST00000367174.2_Nonsense_Mutation_p.R1013*|TIAM2_ENST00000456877.2_Nonsense_Mutation_p.R949*|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R1666*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1637					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1637*(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCCATTAAACGAAAAGCCAA	0.587																																					p.R1637X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4909T	6						.						61.0	59.0	59.0					6																	155578058		2203	4300	6503	155619750	SO:0001587	stop_gained	26230	exon26				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4909C>T	6.37:g.155578058C>T	ENSP00000437188:p.Arg1637*		155619750	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Nonsense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	42	9.451428	0.99175	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8027	0.69926	0.1434:0.8566:0.0:0.0	.	.	.	.	X	1637;1883;1666;1637;1013;1661;1666;949;981;562	.	ENSP00000275246:R562X	R	+	1	2	TIAM2	155619750	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	3.270000	0.51600	2.775000	0.95449	0.655000	0.94253	CGA		0.587	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
NOX3	50508	broad.mit.edu	37	6	155750078	155750078	+	Missense_Mutation	SNP	G	G	A	rs376763861		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155750078G>A	ENST00000159060.2	-	9	1097	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	332	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.S332L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACTCCAGCGAAGATATGGC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17050	0.0		0.0	False		,,,				2504	0.0				p.S332L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C995T	6						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	76.0	77.0	77.0		995	-0.9	0.0	6		77	0,8600		0,0,4300	no	missense	NOX3	NM_015718.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	332/569	155750078	1,13005	2203	4300	6503	155791770	SO:0001583	missense	50508	exon9			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.995C>T	6.37:g.155750078G>A	ENSP00000159060:p.Ser332Leu		155791770	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	2.526	-0.309681	0.05458	2.27E-4	0.0	ENSG00000074771	ENST00000159060	D	0.92299	-3.01	5.78	-0.917	0.10485	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	2.308480	0.01620	N	0.022967	T	0.61022	0.2314	N	0.05414	-0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.67241	-0.5720	10	0.07813	T	0.8	0.0623	4.1018	0.10017	0.0714:0.2634:0.3351:0.3301	.	332	Q9HBY0	NOX3_HUMAN	L	332	ENSP00000159060:S332L	ENSP00000159060:S332L	S	-	2	0	NOX3	155791770	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-0.429000	0.06982	0.056000	0.16144	0.557000	0.71058	TCG		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
JARID2	3720	broad.mit.edu	37	6	15497178	15497178	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:15497178C>T	ENST00000341776.2	+	7	1966	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	JARID2_ENST00000541660.1_Silent_p.I536I|JARID2_ENST00000397311.3_Silent_p.I402I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	574	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I574I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCATCTACATCGAGTCGGTCC	0.662																																					p.I574I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1722T	6						.						55.0	49.0	51.0					6																	15497178		2203	4300	6503	15605157	SO:0001819	synonymous_variant	3720	exon7			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1722C>T	6.37:g.15497178C>T			15605157	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	CCDS4533.1																																																																																				0.662	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
JARID2	3720	broad.mit.edu	37	6	15501261	15501261	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:15501261C>A	ENST00000341776.2	+	8	2313	c.2069C>A	c.(2068-2070)gCc>gAc	p.A690D	JARID2_ENST00000541660.1_Missense_Mutation_p.A652D|JARID2_ENST00000397311.3_Missense_Mutation_p.A518D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	690	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A690D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCCAGAACTGCCCAGGACCGG	0.577																																					p.A690D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2069A	6						.						67.0	77.0	73.0					6																	15501261		2203	4300	6503	15609240	SO:0001583	missense	3720	exon8			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2069C>A	6.37:g.15501261C>A	ENSP00000341280:p.Ala690Asp		15609240	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882693	0.91740	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.45668	0.89;0.89;0.89	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.60728	0.2291	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.66073	-0.6014	10	0.87932	D	0	-13.4379	18.621	0.91321	0.0:1.0:0.0:0.0	.	652;690	F5H590;Q92833	.;JARD2_HUMAN	D	690;518;652	ENSP00000341280:A690D;ENSP00000380478:A518D;ENSP00000444623:A652D	ENSP00000341280:A690D	A	+	2	0	JARID2	15609240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.625000	0.83145	2.396000	0.81511	0.561000	0.74099	GCC		0.577	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
NOX3	50508	broad.mit.edu	37	6	155775979	155775979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:155775979C>T	ENST00000159060.2	-	3	323	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	74	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.R74Q(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAAGGTTTCGACTGACAGG	0.368																																					p.R74Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221A	6						.						65.0	64.0	64.0					6																	155775979		2203	4299	6502	155817671	SO:0001583	missense	50508	exon3			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.221G>A	6.37:g.155775979C>T	ENSP00000159060:p.Arg74Gln		155817671	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364222	0.82463	.	.	ENSG00000074771	ENST00000159060	D	0.98633	-5.04	5.91	5.05	0.67936	Flavoprotein transmembrane component (1);	0.000000	0.51477	D	0.000085	D	0.97879	0.9303	M	0.93550	3.43	0.40176	D	0.977237	P	0.39847	0.691	B	0.34180	0.177	D	0.98321	1.0528	10	0.87932	D	0	-11.3805	15.2862	0.73831	0.0:0.9327:0.0:0.0673	.	74	Q9HBY0	NOX3_HUMAN	Q	74	ENSP00000159060:R74Q	ENSP00000159060:R74Q	R	-	2	0	NOX3	155817671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.321000	0.72881	1.509000	0.48786	0.650000	0.86243	CGA		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
ARID1B	57492	broad.mit.edu	37	6	157431621	157431621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:157431621C>T	ENST00000350026.5	+	6	2259	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	RP1-137K2.2_ENST00000442936.1_RNA|ARID1B_ENST00000346085.5_Missense_Mutation_p.P766L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P695L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P753L	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	753	Ser-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P695L(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGATGCCTCCGCAGCCACCC	0.512																																					p.P753L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2258T	6						.						103.0	92.0	96.0					6																	157431621		2203	4300	6503	157473313	SO:0001583	missense	57492	exon6			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2258C>T	6.37:g.157431621C>T	ENSP00000055163:p.Pro753Leu		157473313	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720898	0.68959	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000319584	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.37	5.37	0.77165	.	0.127860	0.53938	D	0.000052	T	0.26629	0.0651	L	0.49778	1.585	0.58432	D	0.999999	D;D;D;D	0.67145	0.98;0.993;0.996;0.996	P;P;P;P	0.54100	0.689;0.557;0.742;0.742	T	0.02208	-1.1195	10	0.87932	D	0	.	19.1266	0.93388	0.0:1.0:0.0:0.0	.	137;753;766;695	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	L	766;753;753;695;174;137;175	ENSP00000344546:P766L;ENSP00000055163:P753L;ENSP00000356116:P753L;ENSP00000275248:P695L;ENSP00000313006:P175L	ENSP00000275248:P695L	P	+	2	0	ARID1B	157473313	0.993000	0.37304	0.732000	0.30844	0.500000	0.33767	5.652000	0.67959	2.493000	0.84123	0.655000	0.94253	CCG		0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
SNX9	51429	broad.mit.edu	37	6	158317968	158317968	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158317968A>C	ENST00000392185.3	+	5	581	c.410A>C	c.(409-411)aAc>aCc	p.N137T		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	137					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.N137T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCCAAAGAAACACAAACACT	0.637																																					p.N137T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A410C	6						.						67.0	75.0	72.0					6																	158317968		2203	4300	6503	158237956	SO:0001583	missense	51429	exon5			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.410A>C	6.37:g.158317968A>C	ENSP00000376024:p.Asn137Thr		158237956	NM_016224	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.170238	0.00315	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.44881	0.91	0.235	-0.47	0.12131	.	1.243050	0.05569	N	0.570822	T	0.06735	0.0172	N	0.04508	-0.205	0.33477	D	0.587009	B	0.02656	0.0	B	0.06405	0.002	T	0.31138	-0.9954	9	0.12430	T	0.62	.	.	.	.	.	137	Q9Y5X1	SNX9_HUMAN	T	137	ENSP00000376024:N137T	ENSP00000376024:N137T	N	+	2	0	SNX9	158237956	0.989000	0.36119	0.009000	0.14445	0.273000	0.26683	-0.560000	0.05964	0.308000	0.22923	0.313000	0.20887	AAC		0.637	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
SYNJ2	8871	broad.mit.edu	37	6	158514049	158514049	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158514049G>T	ENST00000355585.4	+	26	3732	c.3657G>T	c.(3655-3657)gaG>gaT	p.E1219D	SYNJ2_ENST00000367112.1_Missense_Mutation_p.E304D|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1174D|SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1219D	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1219	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E1219D(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAAACCAGAGACCCCACAGG	0.607																																					p.E1219D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3657T	6						.						48.0	53.0	52.0					6																	158514049		2203	4300	6503	158434037	SO:0001583	missense	8871	exon26			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3657G>T	6.37:g.158514049G>T	ENSP00000347792:p.Glu1219Asp		158434037	NM_003898	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	2.038	-0.420645	0.04734	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94330	-3.1;-3.4;-3.16;0.8	3.72	-1.58	0.08479	.	0.973778	0.08375	N	0.955494	T	0.71854	0.3389	L	0.34521	1.04	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.58457	-0.7633	10	0.13470	T	0.59	.	3.2877	0.06937	0.187:0.3504:0.3534:0.1092	.	614;1219;1219	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	D	1174;1219;1219;304	ENSP00000356089:E1174D;ENSP00000356088:E1219D;ENSP00000347792:E1219D;ENSP00000356079:E304D	ENSP00000347792:E1219D	E	+	3	2	SYNJ2	158434037	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.052000	0.11865	-0.645000	0.05458	-0.321000	0.08615	GAG		0.607	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
SERAC1	84947	broad.mit.edu	37	6	158532439	158532439	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158532439G>T	ENST00000367104.3	-	17	2055	c.1924C>A	c.(1924-1926)Caa>Aaa	p.Q642K	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	642					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.Q642K(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGAATGAATTGTAAAGTACGC	0.363																																					p.Q642K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1924A	6						.						117.0	109.0	112.0					6																	158532439		2203	4300	6503	158452427	SO:0001583	missense	84947	exon17			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1924C>A	6.37:g.158532439G>T	ENSP00000356071:p.Gln642Lys		158452427	NM_032861	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.799654	0.31869	.	.	ENSG00000122335	ENST00000367104	D	0.95342	-3.68	5.67	4.75	0.60458	.	0.103621	0.64402	D	0.000002	T	0.80523	0.4639	N	0.20986	0.625	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.71130	-0.4682	10	0.07813	T	0.8	-10.8553	13.9304	0.63991	0.0:0.0:0.775:0.225	.	642	Q96JX3	SRAC1_HUMAN	K	642	ENSP00000356071:Q642K	ENSP00000356071:Q642K	Q	-	1	0	SERAC1	158452427	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.644000	0.67902	0.445000	0.26639	0.528000	0.53228	CAA		0.363	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	
TULP4	56995	broad.mit.edu	37	6	158902147	158902147	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158902147G>A	ENST00000367097.3	+	8	2669	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	TULP4_ENST00000367094.2_Missense_Mutation_p.E438K	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	438					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E438K(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCCGGCAACGAGCGGCTGCA	0.597																																					p.E438K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	6						.						69.0	73.0	72.0					6																	158902147		2203	4300	6503	158822135	SO:0001583	missense	56995	exon8				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1312G>A	6.37:g.158902147G>A	ENSP00000356064:p.Glu438Lys		158822135	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911129	0.92178	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.64438	-0.1;-0.1	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.77557	0.981;0.98;0.99	T	0.63849	-0.6544	10	0.31617	T	0.26	-35.684	18.9788	0.92747	0.0:0.0:1.0:0.0	.	438;438;438	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	K	438	ENSP00000356064:E438K;ENSP00000356061:E438K	ENSP00000356061:E438K	E	+	1	0	TULP4	158822135	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	9.275000	0.95738	2.491000	0.84063	0.561000	0.74099	GAG		0.597	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
TULP4	56995	broad.mit.edu	37	6	158910647	158910647	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158910647C>A	ENST00000367097.3	+	9	2871	c.1514C>A	c.(1513-1515)tCt>tAt	p.S505Y	TULP4_ENST00000367094.2_Missense_Mutation_p.S505Y	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	505					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S505Y(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGCTTGATTTCTACTGTGATC	0.428																																					p.S505Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1514A	6						.						144.0	134.0	137.0					6																	158910647		2203	4300	6503	158830635	SO:0001583	missense	56995	exon9				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1514C>A	6.37:g.158910647C>A	ENSP00000356064:p.Ser505Tyr		158830635	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329205	0.95733	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.63417	-0.04;0.78	5.57	5.57	0.84162	.	0.055415	0.85682	D	0.000000	T	0.62986	0.2473	L	0.39898	1.24	0.58432	D	0.999993	D;D	0.62365	0.974;0.991	P;P	0.55871	0.748;0.786	T	0.66416	-0.5929	10	0.72032	D	0.01	-21.4308	19.5417	0.95277	0.0:1.0:0.0:0.0	.	505;505	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	Y	505	ENSP00000356064:S505Y;ENSP00000356061:S505Y	ENSP00000356061:S505Y	S	+	2	0	TULP4	158830635	1.000000	0.71417	0.005000	0.12908	0.937000	0.57800	7.371000	0.79600	2.614000	0.88457	0.655000	0.94253	TCT		0.428	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
TULP4	56995	broad.mit.edu	37	6	158919770	158919770	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:158919770A>G	ENST00000367097.3	+	12	3297	c.1940A>G	c.(1939-1941)aAa>aGa	p.K647R	TULP4_ENST00000367094.2_Missense_Mutation_p.K647R	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	647					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K647R(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAAGTTCGGAAAATTTCCATG	0.413																																					p.K647R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1940G	6						.						114.0	116.0	115.0					6																	158919770		2203	4300	6503	158839758	SO:0001583	missense	56995	exon12				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1940A>G	6.37:g.158919770A>G	ENSP00000356064:p.Lys647Arg		158839758	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466288	0.84425	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	D;D	0.85484	-1.99;-1.99	5.77	5.77	0.91146	Tubby, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	N	0.17474	0.49	0.58432	D	0.999998	P;P	0.47762	0.675;0.9	B;B	0.43413	0.218;0.419	T	0.69412	-0.5152	10	0.19147	T	0.46	-31.5574	14.6668	0.68915	1.0:0.0:0.0:0.0	.	647;647	Q9NRJ4-2;Q9NRJ4	.;TULP4_HUMAN	R	647	ENSP00000356064:K647R;ENSP00000356061:K647R	ENSP00000356061:K647R	K	+	2	0	TULP4	158839758	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	8.762000	0.91711	2.199000	0.70637	0.533000	0.62120	AAA		0.413	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
SYTL3	94120	broad.mit.edu	37	6	159166581	159166581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159166581G>T	ENST00000297239.9	+	11	1119	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	SYTL3_ENST00000367081.3_Nonsense_Mutation_p.E35*|SYTL3_ENST00000360448.3_Nonsense_Mutation_p.E241*			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	309	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.E241*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGTCACTGGAGAAATAGAATT	0.343																																					p.E241X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G721T	6						.						86.0	83.0	84.0					6																	159166581		2203	4300	6503	159086569	SO:0001587	stop_gained	94120	exon11			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.925G>T	6.37:g.159166581G>T	ENSP00000297239:p.Glu309*		159086569	NM_001009991	Q496J4|Q496J6|Q5U3B9	Nonsense_Mutation	SNP	ENST00000297239.9	37	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	40	8.515929	0.98845	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	.	.	.	5.51	5.51	0.81932	.	0.179153	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	.	.	.	X	241;309;309;35	.	ENSP00000297239:E309X	E	+	1	0	SYTL3	159086569	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.629000	0.83207	2.600000	0.87896	0.655000	0.94253	GAA		0.343	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		
TAGAP	117289	broad.mit.edu	37	6	159457356	159457356	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159457356G>A	ENST00000367066.3	-	10	2030	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R389C|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	567					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R567C(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGAAGCCGCGGGCTGTTTGG	0.597																																					p.R567C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1699T	6						.						60.0	67.0	65.0					6																	159457356		2202	4299	6501	159377344	SO:0001583	missense	117289	exon10			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1699C>T	6.37:g.159457356G>A	ENSP00000356033:p.Arg567Cys		159377344	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883882	0.33255	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.17854	2.25;2.51	5.54	-1.25	0.09405	.	1.289820	0.05495	N	0.557396	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	P	0.47302	0.893	B	0.35182	0.197	T	0.32640	-0.9899	10	0.72032	D	0.01	-0.0297	4.4677	0.11698	0.1279:0.4598:0.2155:0.1968	.	567	Q8N103	TAGAP_HUMAN	C	567;389;232	ENSP00000356033:R567C;ENSP00000322650:R389C	ENSP00000322650:R389C	R	-	1	0	TAGAP	159377344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.253000	0.08794	-0.616000	0.05671	0.655000	0.94253	CGC		0.597	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
TAGAP	117289	broad.mit.edu	37	6	159461769	159461769	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159461769G>A	ENST00000367066.3	-	7	904	c.573C>T	c.(571-573)atC>atT	p.I191I	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Silent_p.I191I|TAGAP_ENST00000326965.6_Silent_p.I13I|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	191	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I191I(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAGGGCCTCGATTCTGTCCT	0.498																																					p.I191I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	6						.						195.0	175.0	182.0					6																	159461769		2203	4300	6503	159381757	SO:0001819	synonymous_variant	117289	exon7			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.573C>T	6.37:g.159461769G>A			159381757	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	CCDS5261.1																																																																																				0.498	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
TAGAP	117289	broad.mit.edu	37	6	159462392	159462392	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159462392G>T	ENST00000367066.3	-	6	802	c.471C>A	c.(469-471)gtC>gtA	p.V157V	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Silent_p.V157V|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	157	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V157V(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCACCTTAAAGACCACAGCGA	0.562																																					p.V157V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471A	6						.						94.0	86.0	89.0					6																	159462392		2203	4300	6503	159382380	SO:0001819	synonymous_variant	117289	exon6			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.471C>A	6.37:g.159462392G>T			159382380	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	CCDS5261.1																																																																																				0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159642721G>T	ENST00000297267.9	+	6	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.K253N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K253N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGCGAAAGATTTCAGGTA	0.473																																					p.K253N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G759T	6						.						101.0	110.0	107.0					6																	159642721		1951	4142	6093	159562709	SO:0001583	missense	84624	exon6			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.759G>T	6.37:g.159642721G>T	ENSP00000297267:p.Lys253Asn		159562709	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.468197|2.468197	0.43839|0.43839	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08807	.|3.05;3.99	6.17|6.17	1.98|1.98	0.26296|0.26296	.|Fibronectin, type III (1);	.|0.111909	.|0.64402	.|D	.|0.000011	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.36672|0.36672	1.1|1.1	0.28380|0.28380	N|N	0.919585|0.919585	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.975	T|T	0.15093|0.15093	-1.0449|-1.0449	5|10	.|0.46703	.|T	.|0.11	-34.0927|-34.0927	6.5326|6.5326	0.22336|0.22336	0.5231:0.0:0.4769:0.0|0.5231:0.0:0.4769:0.0	.|.	.|253;253	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	Y|N	212|253	.|ENSP00000297267:K253N;ENSP00000342460:K253N	.|ENSP00000297267:K253N	D|K	+|+	1|3	0|2	FNDC1|FNDC1	159562709|159562709	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.810000|0.810000	0.45777|0.45777	1.578000|1.578000	0.36525|0.36525	0.492000|0.492000	0.27815|0.27815	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159653331	159653331	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159653331G>A	ENST00000297267.9	+	11	1987	c.1787G>A	c.(1786-1788)gGc>gAc	p.G596D	FNDC1_ENST00000340366.6_Missense_Mutation_p.G533D	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	596					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G596D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGAAGGGAAGGCGTAGATAAG	0.706																																					p.G596D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1787A	6						.						20.0	25.0	24.0					6																	159653331		2021	4176	6197	159573321	SO:0001583	missense	84624	exon11			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1787G>A	6.37:g.159653331G>A	ENSP00000297267:p.Gly596Asp		159573321	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374576	0.24857	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07114	3.22;4.02	5.16	0.405	0.16361	.	1.461170	0.03812	N	0.266102	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	P;B	0.43938	0.822;0.294	B;B	0.38225	0.268;0.084	T	0.36114	-0.9761	10	0.09590	T	0.72	-0.7005	4.9225	0.13876	0.1017:0.4461:0.3351:0.1171	.	533;596	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	D	596;533	ENSP00000297267:G596D;ENSP00000342460:G533D	ENSP00000297267:G596D	G	+	2	0	FNDC1	159573321	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.022000	0.13511	0.141000	0.18875	0.655000	0.94253	GGC		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159653499	159653499	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159653499G>A	ENST00000297267.9	+	11	2155	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R589H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	652					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R652H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAGATGAGCGCGCTGTGGGC	0.677																																					p.R652H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1955A	6						.						30.0	35.0	33.0					6																	159653499		2050	4170	6220	159573489	SO:0001583	missense	84624	exon11			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1955G>A	6.37:g.159653499G>A	ENSP00000297267:p.Arg652His		159573489	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	g	11.03	1.517544	0.27123	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08282	3.11;3.87	4.06	-5.09	0.02920	.	1.251300	0.05499	N	0.558041	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.46275	-0.9203	10	0.49607	T	0.09	2.5948	0.4558	0.00508	0.3328:0.2595:0.123:0.2847	.	589;652	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	652;589	ENSP00000297267:R652H;ENSP00000342460:R589H	ENSP00000297267:R652H	R	+	2	0	FNDC1	159573489	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.235000	0.01202	-0.707000	0.05022	-1.718000	0.00708	CGC		0.677	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159655446	159655446	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159655446G>T	ENST00000297267.9	+	11	4102	c.3902G>T	c.(3901-3903)aGg>aTg	p.R1301M	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1238M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1301					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1301M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TTGCGCCAGAGGATGATGCAT	0.587																																					p.R1301M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3902T	6						.						28.0	30.0	29.0					6																	159655446		2065	4154	6219	159575436	SO:0001583	missense	84624	exon11			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3902G>T	6.37:g.159655446G>T	ENSP00000297267:p.Arg1301Met		159575436	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.542860|2.542860	0.45280|0.45280	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.13089	.|2.62;3.41	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.340357	.|0.27591	.|N	.|0.018700	T|T	0.18964|0.18964	0.0455|0.0455	L|L	0.34521|0.34521	1.04|1.04	0.35252|0.35252	D|D	0.778758|0.778758	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.98	T|T	0.01390|0.01390	-1.1367|-1.1367	5|10	.|0.72032	.|D	.|0.01	-24.0719|-24.0719	15.5087|15.5087	0.75764|0.75764	0.0:0.1386:0.8613:0.0|0.0:0.1386:0.8613:0.0	.|.	.|1238;1301	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	D|M	1196|1301;1238	.|ENSP00000297267:R1301M;ENSP00000342460:R1238M	.|ENSP00000297267:R1301M	E|R	+|+	3|2	2|0	FNDC1|FNDC1	159575436|159575436	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.425000|0.425000	0.31504|0.31504	4.356000|4.356000	0.59430|0.59430	2.612000|2.612000	0.88384|0.88384	0.650000|0.650000	0.86243|0.86243	GAG|AGG		0.587	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159667987	159667987	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159667987T>A	ENST00000297267.9	+	15	4876	c.4676T>A	c.(4675-4677)gTt>gAt	p.V1559D	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1496D	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1559					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1559D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGGCCTACGTTATATATGAT	0.423																																					p.V1559D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4676A	6						.						131.0	125.0	127.0					6																	159667987		1896	4125	6021	159587977	SO:0001583	missense	84624	exon15			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4676T>A	6.37:g.159667987T>A	ENSP00000297267:p.Val1559Asp		159587977	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550953	0.45383	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.11277	2.79;3.59	5.54	4.38	0.52667	.	0.151509	0.43579	D	0.000545	T	0.15739	0.0379	M	0.62723	1.935	0.39635	D	0.970233	D	0.71674	0.998	D	0.74023	0.982	T	0.01349	-1.1378	9	.	.	.	-10.0047	9.5659	0.39398	0.0:0.0803:0.0:0.9197	.	1559	Q4ZHG4	FNDC1_HUMAN	D	1559;1496	ENSP00000297267:V1559D;ENSP00000342460:V1496D	.	V	+	2	0	FNDC1	159587977	0.933000	0.31639	0.000000	0.03702	0.382000	0.30200	1.611000	0.36879	0.936000	0.37367	0.482000	0.46254	GTT		0.423	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	broad.mit.edu	37	6	159682295	159682295	+	Missense_Mutation	SNP	G	G	A	rs560595190		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:159682295G>A	ENST00000297267.9	+	19	5448	c.5248G>A	c.(5248-5250)Gaa>Aaa	p.E1750K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E1687K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1750	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1750K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATTTGTCACCGAATCAGGTAT	0.343																																					p.E1750K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5248A	6						.						104.0	97.0	99.0					6																	159682295		1834	4084	5918	159602285	SO:0001583	missense	84624	exon19			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5248G>A	6.37:g.159682295G>A	ENSP00000297267:p.Glu1750Lys		159602285	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.365498|4.365498	0.82463|0.82463	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09817|.	2.94;3.79|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Fibronectin, type III (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66356|0.66356	0.2781|0.2781	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.61327|0.61327	-0.7085|-0.7085	9|5	.|.	.|.	.|.	-26.527|-26.527	20.073|20.073	0.97731|0.97731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1750|.	Q4ZHG4|.	FNDC1_HUMAN|.	K|Q	1750;1687|1645	ENSP00000297267:E1750K;ENSP00000342460:E1687K|.	.|.	E|R	+|+	1|2	0|0	FNDC1|FNDC1	159602285|159602285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.240000|0.240000	0.25518|0.25518	9.424000|9.424000	0.97464|0.97464	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.343	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
PNLDC1	154197	broad.mit.edu	37	6	160225025	160225025	+	Missense_Mutation	SNP	C	C	T	rs138958903		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160225025C>T	ENST00000610273.1	+	5	415	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.L93F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	82						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.L82F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TAACTTCTATCTCTTCCCTAC	0.393																																					p.L82F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244T	6						.						139.0	142.0	141.0					6																	160225025		2203	4300	6503	160145015	SO:0001583	missense	154197	exon5			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.244C>T	6.37:g.160225025C>T	ENSP00000476448:p.Leu82Phe		160145015	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228784	0.79576	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.23950	1.88;1.88	5.47	5.47	0.80525	Ribonuclease H-like (1);	0.000000	0.53938	D	0.000048	T	0.47581	0.1453	M	0.79805	2.47	0.43444	D	0.995628	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.52343	-0.8588	10	0.87932	D	0	.	16.4851	0.84182	0.0:1.0:0.0:0.0	.	93;82	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	82;93	ENSP00000275275:L82F;ENSP00000376007:L93F	ENSP00000275275:L82F	L	+	1	0	PNLDC1	160145015	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.709000	0.61867	2.553000	0.86117	0.655000	0.94253	CTC		0.393	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
PNLDC1	154197	broad.mit.edu	37	6	160225665	160225665	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160225665C>T	ENST00000610273.1	+	6	595	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.R153C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	142						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R142C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGGAGAGTTCGCAGGTATGG	0.473																																					p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	6						.						98.0	94.0	95.0					6																	160225665		2203	4300	6503	160145655	SO:0001583	missense	154197	exon6			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.424C>T	6.37:g.160225665C>T	ENSP00000476448:p.Arg142Cys		160145655	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197597	0.22037	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	5.28	4.41	0.53225	Ribonuclease H-like (1);	0.207467	0.34200	N	0.004166	T	0.24314	0.0589	L	0.27053	0.805	0.47441	D	0.999428	B;B	0.19706	0.038;0.022	B;B	0.17722	0.007;0.019	T	0.10706	-1.0618	9	0.38643	T	0.18	.	7.8886	0.29665	0.0:0.805:0.0:0.195	.	153;142	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	C	142;153	.	ENSP00000275275:R142C	R	+	1	0	PNLDC1	160145655	0.761000	0.28439	0.958000	0.39756	0.399000	0.30720	1.163000	0.31798	1.215000	0.43411	0.655000	0.94253	CGC		0.473	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
PNLDC1	154197	broad.mit.edu	37	6	160232740	160232740	+	Silent	SNP	C	C	T	rs181607194		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160232740C>T	ENST00000610273.1	+	11	999	c.828C>T	c.(826-828)taC>taT	p.Y276Y	PNLDC1_ENST00000392167.3_Silent_p.Y287Y	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	276						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Y276Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGAAAGCTACGATCAATTTA	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.0				p.Y276Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	6						.						110.0	108.0	109.0					6																	160232740		2203	4300	6503	160152730	SO:0001819	synonymous_variant	154197	exon11			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.828C>T	6.37:g.160232740C>T			160152730	NM_173516	Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	37	CCDS5271.1																																																																																				0.408	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
PNLDC1	154197	broad.mit.edu	37	6	160240086	160240086	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160240086C>A	ENST00000610273.1	+	17	1504	c.1333C>A	c.(1333-1335)Ctc>Atc	p.L445I	PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456I	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	445						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.L445I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTCAGAATCTCTGCAAGTT	0.517																																					p.L445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333A	6						.						103.0	99.0	101.0					6																	160240086		2203	4300	6503	160160076	SO:0001583	missense	154197	exon17			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1333C>A	6.37:g.160240086C>A	ENSP00000476448:p.Leu445Ile		160160076	NM_173516	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206135	0.09704	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.78	0.32641	.	0.137105	0.31102	N	0.008250	T	0.10981	0.0268	L	0.27053	0.805	0.27208	N	0.95998	B;B	0.22146	0.065;0.018	B;B	0.23716	0.048;0.023	T	0.19647	-1.0299	9	0.36615	T	0.2	.	5.9447	0.19211	0.0:0.6722:0.158:0.1698	.	456;445	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	I	445;456	.	ENSP00000275275:L445I	L	+	1	0	PNLDC1	160160076	0.009000	0.17119	0.997000	0.53966	0.057000	0.15508	0.207000	0.17395	0.537000	0.28751	-0.379000	0.06801	CTC		0.517	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
IGF2R	3482	broad.mit.edu	37	6	160453696	160453696	+	Silent	SNP	C	C	T	rs201732709		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160453696C>T	ENST00000356956.1	+	8	1144	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	332					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.G332G(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTCTGAGCGGCGAGCAGCAGG	0.512																																					p.G332G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996T	6						.	C		3,4403	6.2+/-15.9	0,3,2200	93.0	89.0	90.0		996	-5.2	0.0	6		90	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	IGF2R	NM_000876.2		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		332/2492	160453696	4,13002	2203	4300	6503	160373686	SO:0001819	synonymous_variant	3482	exon8			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.996C>T	6.37:g.160453696C>T			160373686	NM_000876	Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	CCDS5273.1																																																																																				0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	broad.mit.edu	37	6	160485885	160485885	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160485885G>A	ENST00000356956.1	+	29	4215	c.4067G>A	c.(4066-4068)cGa>cAa	p.R1356Q		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1356					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.R1356Q(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTTGAGTGGCGAACGCAGTAT	0.383																																					p.R1356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4067A	6						.						165.0	145.0	152.0					6																	160485885		2203	4300	6503	160405875	SO:0001583	missense	3482	exon29			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4067G>A	6.37:g.160485885G>A	ENSP00000349437:p.Arg1356Gln		160405875	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323756	0.60634	.	.	ENSG00000197081	ENST00000356956	T	0.02140	4.43	5.19	4.32	0.51571	Mannose-6-phosphate receptor, binding (1);	0.246858	0.36665	N	0.002476	T	0.01387	0.0045	M	0.70842	2.15	0.34975	D	0.753543	D	0.60575	0.988	P	0.46275	0.51	T	0.53781	-0.8390	10	0.14656	T	0.56	-14.7369	4.8397	0.13483	0.2178:0.1728:0.6094:0.0	.	1356	P11717	MPRI_HUMAN	Q	1356	ENSP00000349437:R1356Q	ENSP00000349437:R1356Q	R	+	2	0	IGF2R	160405875	1.000000	0.71417	0.422000	0.26621	0.980000	0.70556	3.619000	0.54196	1.199000	0.43173	0.655000	0.94253	CGA		0.383	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
SLC22A3	6581	broad.mit.edu	37	6	160858073	160858073	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160858073G>T	ENST00000275300.2	+	7	1270	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	SLC22A3_ENST00000392145.1_Missense_Mutation_p.G373V	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	373					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)	p.G373V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	ATGCGCCTGGGAATTATAGGG	0.468																																					p.G373V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	6						.						123.0	132.0	129.0					6																	160858073		2203	4300	6503	160778063	SO:0001583	missense	6581	exon7			AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1118G>T	6.37:g.160858073G>T	ENSP00000275300:p.Gly373Val		160778063	NM_021977	Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006408	0.74932	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.57273	0.41;0.41	5.83	5.83	0.93111	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70073	-0.4972	10	0.72032	D	0.01	.	18.2967	0.90148	0.0:0.0:1.0:0.0	.	373	O75751	S22A3_HUMAN	V	373	ENSP00000275300:G373V;ENSP00000375989:G373V	ENSP00000275300:G373V	G	+	2	0	SLC22A3	160778063	1.000000	0.71417	0.042000	0.18584	0.998000	0.95712	8.972000	0.93424	2.756000	0.94617	0.655000	0.94253	GGA		0.468	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977	
LPA	4018	broad.mit.edu	37	6	160952893	160952893	+	Silent	SNP	G	G	A	rs531254436		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160952893G>A	ENST00000316300.5	-	39	6035	c.5991C>T	c.(5989-5991)ttC>ttT	p.F1997F	LPA_ENST00000447678.1_Silent_p.F1997F			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4505	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.F1997F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCCTTCTCGAAGCAAACCA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		18694	0.0		0.0	False		,,,				2504	0.001				p.F1997F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5991T	6						.						105.0	100.0	102.0					6																	160952893		2203	4300	6503	160872883	SO:0001819	synonymous_variant	4018	exon40			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5991C>T	6.37:g.160952893G>A			160872883	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LPA	4018	broad.mit.edu	37	6	160962147	160962147	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160962147G>A	ENST00000316300.5	-	35	5630	c.5586C>T	c.(5584-5586)tgC>tgT	p.C1862C	LPA_ENST00000447678.1_Silent_p.C1862C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4370	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.C1862C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTTCTTCAAGCAGTGAGCAG	0.473																																					p.C1862C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5586T	6						.						92.0	97.0	95.0					6																	160962147		2203	4300	6503	160882137	SO:0001819	synonymous_variant	4018	exon36			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5586C>T	6.37:g.160962147G>A			160882137	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LPA	4018	broad.mit.edu	37	6	161006106	161006106	+	Silent	SNP	G	G	T	rs370130400		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:161006106G>T	ENST00000316300.5	-	26	4305	c.4261C>A	c.(4261-4263)Cgg>Agg	p.R1421R	LPA_ENST00000447678.1_Silent_p.R1421R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3929	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1421R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCTCCGATGCCAATGT	0.443																																					p.R1421R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4261A	6						.						216.0	214.0	215.0					6																	161006106		2176	4295	6471	160926096	SO:0001819	synonymous_variant	4018	exon27			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4261C>A	6.37:g.161006106G>T			160926096	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LPA	4018	broad.mit.edu	37	6	161010695	161010695	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:161010695T>C	ENST00000316300.5	-	24	3881	c.3837A>G	c.(3835-3837)ggA>ggG	p.G1279G	LPA_ENST00000447678.1_Silent_p.G1279G			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3787	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.G1279G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATAACTCTGTCCATCACCAT	0.473																																					p.G1279G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3837G	6						.						153.0	158.0	157.0					6																	161010695		2185	4296	6481	160930685	SO:0001819	synonymous_variant	4018	exon25			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3837A>G	6.37:g.161010695T>C			160930685	NM_005577	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
PLG	5340	broad.mit.edu	37	6	161137753	161137753	+	Missense_Mutation	SNP	G	G	A	rs532027310		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:161137753G>A	ENST00000308192.9	+	7	808	c.745G>A	c.(745-747)Gac>Aac	p.D249N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	249	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D249N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTCACCACCGACCCCAACAA	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18241	0.0		0.0	False		,,,				2504	0.0				p.D249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	6						.						69.0	65.0	66.0					6																	161137753		2203	4300	6503	161057743	SO:0001583	missense	5340	exon7			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.745G>A	6.37:g.161137753G>A	ENSP00000308938:p.Asp249Asn		161057743	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892139	0.17613	.	.	ENSG00000122194	ENST00000308192	T	0.64085	-0.08	5.26	-0.578	0.11724	Kringle (4);Kringle-like fold (1);	0.172675	0.26832	U	0.022271	T	0.22551	0.0544	L	0.28014	0.82	0.09310	N	1	B	0.17268	0.021	B	0.19148	0.024	T	0.31110	-0.9955	10	0.27785	T	0.31	.	9.4995	0.39008	0.5999:0.0:0.4001:0.0	.	249	P00747	PLMN_HUMAN	N	249	ENSP00000308938:D249N	ENSP00000308938:D249N	D	+	1	0	PLG	161057743	0.000000	0.05858	0.029000	0.17559	0.661000	0.39034	0.480000	0.22244	-0.075000	0.12798	-0.440000	0.05779	GAC		0.488	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
AGPAT4	56895	broad.mit.edu	37	6	161587403	161587403	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:161587403G>T	ENST00000320285.4	-	3	437	c.225C>A	c.(223-225)atC>atA	p.I75I	AGPAT4_ENST00000366905.3_Silent_p.I75I|AGPAT4_ENST00000366906.5_Silent_p.I13I|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.I75I|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	75					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I75I(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GGTCCGTGAAGATGGTGCATT	0.527																																					p.I75I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225A	6						.						90.0	79.0	83.0					6																	161587403		2203	4300	6503	161507393	SO:0001819	synonymous_variant	56895	exon3			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.225C>A	6.37:g.161587403G>T			161507393	NM_020133	B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	CCDS5280.1																																																																																				0.527	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133	
PARK2	5071	broad.mit.edu	37	6	161990401	161990401	+	Missense_Mutation	SNP	G	G	T	rs138920699	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:161990401G>T	ENST00000366898.1	-	8	1021	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	PARK2_ENST00000366897.1_Missense_Mutation_p.L279M|PARK2_ENST00000366894.1_Missense_Mutation_p.L116M|PARK2_ENST00000366892.1_Missense_Mutation_p.L307M|PARK2_ENST00000366896.1_Missense_Mutation_p.L158M|PARK2_ENST00000338468.3_Missense_Mutation_p.L116M	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	307					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.L307M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCTTCTCCCAGAATCCTGAAG	0.473																																					p.L307M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919A	6	GRCh37	CM063012	PARK2	M	rs138920699	.						116.0	109.0	112.0					6																	161990401		2203	4300	6503	161910391	SO:0001583	missense	5071	exon8				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.919C>A	6.37:g.161990401G>T	ENSP00000355865:p.Leu307Met		161910391	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.695842	0.68386	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000004	D	0.95768	0.8623	M	0.83953	2.67	0.45541	D	0.998498	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;1.0	D;D;P;P;D	0.91635	0.999;0.994;0.906;0.906;0.987	D	0.95931	0.8938	10	0.59425	D	0.04	.	16.7149	0.85395	0.0:0.0:1.0:0.0	.	326;158;279;307;116	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	M	307;279;158;116;116;116;307	ENSP00000355865:L307M;ENSP00000355863:L279M;ENSP00000355862:L158M;ENSP00000355860:L116M;ENSP00000343589:L116M;ENSP00000355858:L307M	ENSP00000343589:L116M	L	-	1	2	PARK2	161910391	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.444000	0.73452	2.383000	0.81215	0.643000	0.83706	CTG		0.473	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
PACRG	135138	broad.mit.edu	37	6	163735866	163735866	+	Silent	SNP	C	C	T	rs191922264	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:163735866C>T	ENST00000337019.3	+	7	962	c.738C>T	c.(736-738)tcC>tcT	p.S246S	PACRG_ENST00000366888.2_Silent_p.S207S|PACRG_ENST00000366889.2_Silent_p.S207S	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	246					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.S246S(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CAGTGAACTCCGGAGACGGCA	0.498													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20219	0.0		0.0	False		,,,				2504	0.0				p.S207S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	6						.						93.0	85.0	87.0					6																	163735866		2203	4300	6503	163655856	SO:0001819	synonymous_variant	135138	exon6			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.738C>T	6.37:g.163735866C>T			163655856	NM_001080378	E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	ENST00000337019.3	37	CCDS5284.1																																																																																				0.498	PACRG-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400424.1	NM_152410	
ATXN1	6310	broad.mit.edu	37	6	16328137	16328137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:16328137G>T	ENST00000244769.4	-	8	1341	c.405C>A	c.(403-405)taC>taA	p.Y135*	ATXN1_ENST00000436367.1_Nonsense_Mutation_p.Y135*	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	135					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Y135*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGGTTCCACTGTATTGGGAGG	0.657																																					p.Y135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C405A	6						.						72.0	76.0	75.0					6																	16328137		2203	4300	6503	16436116	SO:0001587	stop_gained	6310	exon8			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.405C>A	6.37:g.16328137G>T	ENSP00000244769:p.Tyr135*		16436116	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Nonsense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	41	9.020921	0.99038	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	.	.	.	5.11	2.28	0.28536	.	0.057614	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.033	8.8418	0.35146	0.3683:0.0:0.6317:0.0	.	.	.	.	X	135	.	ENSP00000244769:Y135X	Y	-	3	2	ATXN1	16436116	1.000000	0.71417	0.992000	0.48379	0.199000	0.23934	1.729000	0.38115	0.534000	0.28695	0.467000	0.42956	TAC		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
QKI	9444	broad.mit.edu	37	6	163876327	163876327	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:163876327G>T	ENST00000361752.3	+	2	710	c.159G>T	c.(157-159)cgG>cgT	p.R53R	QKI_ENST00000392127.2_Silent_p.R53R|QKI_ENST00000275262.7_Silent_p.R53R|QKI_ENST00000453779.2_Silent_p.R53R|QKI_ENST00000424802.3_Silent_p.R53R|QKI_ENST00000361195.2_Silent_p.R53R	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	53					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R53R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCAGAGTACGGAAAGACATGT	0.373																																					p.R53R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G159T	6						.						115.0	111.0	112.0					6																	163876327		2203	4300	6503	163796317	SO:0001819	synonymous_variant	9444	exon2			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.159G>T	6.37:g.163876327G>T			163796317	NM_206855	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	CCDS5285.1																																																																																				0.373	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
C6orf118	168090	broad.mit.edu	37	6	165713964	165713964	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:165713964T>A	ENST00000230301.8	-	3	785	c.765A>T	c.(763-765)aaA>aaT	p.K255N	C6orf118_ENST00000543069.1_Missense_Mutation_p.K151N	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	255								p.K255N(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACGTGCAAATTTTCTGGAGCT	0.453																																					p.K255N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A765T	6						.						118.0	136.0	130.0					6																	165713964		2203	4300	6503	165633954	SO:0001583	missense	168090	exon3				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.765A>T	6.37:g.165713964T>A	ENSP00000230301:p.Lys255Asn		165633954	NM_144980	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651636	0.29336	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.19532	2.46;2.14	5.02	-6.44	0.01920	.	0.260506	0.31347	N	0.007812	T	0.14442	0.0349	M	0.67397	2.05	0.27970	N	0.936431	D	0.76494	0.999	D	0.69479	0.964	T	0.04537	-1.0944	10	0.62326	D	0.03	.	1.0767	0.01634	0.2295:0.3261:0.2341:0.2103	.	255	Q5T5N4	CF118_HUMAN	N	255;151	ENSP00000230301:K255N;ENSP00000439288:K151N	ENSP00000230301:K255N	K	-	3	2	C6orf118	165633954	0.000000	0.05858	0.666000	0.29783	0.017000	0.09413	-1.463000	0.02361	-1.659000	0.01488	-0.408000	0.06270	AAA		0.453	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
PDE10A	10846	broad.mit.edu	37	6	165756884	165756884	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:165756884G>T	ENST00000366882.1	-	20	2217	c.2063C>A	c.(2062-2064)gCt>gAt	p.A688D	PDE10A_ENST00000539869.2_Missense_Mutation_p.A698D|PDE10A_ENST00000354448.4_Missense_Mutation_p.A688D			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	688					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A688D(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACATACCTCAGCCCAGAATTC	0.363																																					p.A688D	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2063A	6						.						107.0	103.0	104.0					6																	165756884		2203	4300	6503	165676874	SO:0001583	missense	10846	exon20			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2063C>A	6.37:g.165756884G>T	ENSP00000355847:p.Ala688Asp		165676874	NM_006661	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	G	14.89	2.671025	0.47781	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.81078	-1.45;-1.45	5.67	5.67	0.87782	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.046666	0.85682	D	0.000000	T	0.63965	0.2556	N	0.10782	0.045	0.80722	D	1	P;B	0.45986	0.87;0.002	P;B	0.49276	0.605;0.003	T	0.65549	-0.6141	10	0.15499	T	0.54	.	19.3597	0.94432	0.0:0.0:1.0:0.0	.	698;688	Q9ULW9;Q9Y233	.;PDE10_HUMAN	D	688;716;698;688;687	ENSP00000355847:A688D;ENSP00000346435:A688D	ENSP00000341187:A698D	A	-	2	0	PDE10A	165676874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.975000	0.93437	2.671000	0.90904	0.585000	0.79938	GCT		0.363	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
PDE10A	10846	broad.mit.edu	37	6	165809816	165809816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:165809816C>A	ENST00000366882.1	-	15	1535	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E471*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E461*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	461					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.E461*(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AATTCAATTTCTTTGCAGAGA	0.388																																					p.E461X	Esophageal Squamous(22;308 615 5753 12038 40624)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1381T	6						.						160.0	139.0	146.0					6																	165809816		2203	4300	6503	165729806	SO:0001587	stop_gained	10846	exon15			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1381G>T	6.37:g.165809816C>A	ENSP00000355847:p.Glu461*		165729806	NM_006661	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.599085	0.96614	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.46	4.58	0.56647	.	0.473959	0.25071	N	0.033363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	15.6303	0.76904	0.1385:0.8615:0.0:0.0	.	.	.	.	X	461;489;471;461;460	.	ENSP00000341187:E471X	E	-	1	0	PDE10A	165729806	1.000000	0.71417	0.067000	0.19924	0.444000	0.32077	7.463000	0.80869	1.292000	0.44672	0.650000	0.86243	GAA		0.388	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
RPS6KA2	6196	broad.mit.edu	37	6	166914411	166914411	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:166914411T>C	ENST00000265678.4	-	7	791	c.568A>G	c.(568-570)Atc>Gtc	p.I190V	RPS6KA2_ENST00000405189.3_Splice_Site_p.I101V|RPS6KA2_ENST00000481261.2_Splice_Site_p.I101V|RPS6KA2_ENST00000503859.1_Splice_Site_p.I198V|RPS6KA2_ENST00000510118.1_Splice_Site_p.I215V|RPS6KA2_ENST00000366863.2_Splice_Site_p.I36V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	190	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.I190V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCCAGGAGGATGCTAAAAGAA	0.572																																					p.I190V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A568G	6						.						71.0	67.0	68.0					6																	166914411		2203	4300	6503	166834401	SO:0001630	splice_region_variant	6196	exon7			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.567-1A>G	6.37:g.166914411T>C			166834401	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414091	0.42817	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863;ENST00000507350	T;T;T;T;T;T;T	0.72942	1.42;1.42;1.42;1.42;1.42;-0.7;1.42	4.38	4.38	0.52667	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70159	0.3192	L	0.39514	1.22	0.80722	D	1	B;B;P	0.49447	0.205;0.082;0.924	B;B;D	0.68765	0.248;0.077;0.96	T	0.72286	-0.4338	10	0.45353	T	0.12	.	13.0844	0.59132	0.0:0.0:0.0:1.0	.	215;198;190	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	V	190;215;198;101;101;36;101	ENSP00000265678:I190V;ENSP00000422435:I215V;ENSP00000427015:I198V;ENSP00000422484:I101V;ENSP00000386050:I101V;ENSP00000355828:I36V;ENSP00000422197:I101V	ENSP00000265678:I190V	I	-	1	0	RPS6KA2	166834401	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.902000	0.75699	1.739000	0.51704	0.460000	0.39030	ATC		0.572	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	Missense_Mutation
RPS6KA2	6196	broad.mit.edu	37	6	167271690	167271690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167271690C>A	ENST00000510118.1	-	2	461	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	RPS6KA2_ENST00000503859.1_Nonsense_Mutation_p.E41*|RP11-514O12.4_ENST00000507747.1_Missense_Mutation_p.K164N			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.E41*(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATAGTTACTTCTTCTGCAGTG	0.433																																					p.E41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G121T	6						.						267.0	219.0	236.0					6																	167271690		2203	4300	6503	167191680	SO:0001587	stop_gained	6196	exon2			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000510118.1:c.121G>T	6.37:g.167271690C>A	ENSP00000422435:p.Glu41*		167191680	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Nonsense_Mutation	SNP	ENST00000510118.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.93|15.93	2.979605|2.979605	0.53827|0.53827	.|.	.|.	ENSG00000071242|ENSG00000249141	ENST00000510118;ENST00000503859;ENST00000506565|ENST00000507747	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.462954|.	0.22443|.	N|.	0.059987|.	.|T	.|0.55273	.|0.1910	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54403	.|-0.8299	.|4	0.07482|.	T|.	0.82|.	.|.	13.0924|13.0924	0.59172|0.59172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	41|164	.|.	ENSP00000427015:E41X|.	E|K	-|-	1|3	0|2	RPS6KA2|RP11-514O12.4	167191680|167191680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.270000|0.270000	0.26580|0.26580	1.551000|1.551000	0.36233|0.36233	2.458000|2.458000	0.83093|0.83093	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.433	RPS6KA2-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000362836.2	NM_021135	
RNASET2	8635	broad.mit.edu	37	6	167344591	167344591	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167344591C>A	ENST00000508775.1	-	8	1027	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	RNASET2_ENST00000476238.2_Missense_Mutation_p.D170Y|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000496851.2_5'Flank|RNASET2_ENST00000366855.6_Missense_Mutation_p.D132Y	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2	170					RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)	p.D170Y(1)		large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GCAAGGGCATCTTTAAAATCT	0.393																																					p.D170Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508T	6						.						149.0	147.0	148.0					6																	167344591		2203	4300	6503	167264581	SO:0001583	missense	8635	exon8			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.508G>T	6.37:g.167344591C>A	ENSP00000426455:p.Asp170Tyr		167264581	NM_003730	B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	Missense_Mutation	SNP	ENST00000508775.1	37	CCDS5295.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554675	0.27739	.	.	ENSG00000026297	ENST00000366855;ENST00000508775;ENST00000428859;ENST00000476238;ENST00000478180	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.5	3.47	0.39725	.	0.428900	0.27841	N	0.017623	T	0.79209	0.4407	M	0.75150	2.29	0.40781	D	0.983174	D;D	0.61697	0.99;0.98	D;P	0.67103	0.949;0.747	T	0.81109	-0.1082	10	0.66056	D	0.02	-17.3238	3.9528	0.09377	0.0:0.683:0.0:0.317	.	220;170	C9JIU8;O00584	.;RNT2_HUMAN	Y	132;170;220;170;170	ENSP00000424947:D132Y;ENSP00000426455:D170Y;ENSP00000422846:D170Y;ENSP00000426059:D170Y	ENSP00000424947:D132Y	D	-	1	0	RNASET2	167264581	0.998000	0.40836	0.807000	0.32361	0.027000	0.11550	1.288000	0.33296	2.045000	0.60652	0.563000	0.77884	GAT		0.393	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043089.2	NM_003730	
FGFR1OP	11116	broad.mit.edu	37	6	167447412	167447412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167447412G>T	ENST00000366847.4	+	12	1309	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Nonsense_Mutation_p.E340*	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	360					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.E340*(1)		large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGAAGAGATAGAAGAAGACCT	0.338			T	FGFR1	"""MPD, NHL"""																																p.E340X			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1018T	6						.						98.0	99.0	99.0					6																	167447412		2203	4299	6502	167367402	SO:0001587	stop_gained	11116	exon11			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.1078G>T	6.37:g.167447412G>T	ENSP00000355812:p.Glu360*		167367402	NM_194429	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Nonsense_Mutation	SNP	ENST00000366847.4	37	CCDS5296.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939314	0.92526	.	.	ENSG00000213066	ENST00000366847;ENST00000420493;ENST00000349556	.	.	.	5.13	5.13	0.70059	.	0.125962	0.51477	U	0.000083	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.5135	17.5512	0.87876	0.0:0.0:1.0:0.0	.	.	.	.	X	360;313;340	.	ENSP00000230248:E340X	E	+	1	0	FGFR1OP	167367402	1.000000	0.71417	0.366000	0.25914	0.988000	0.76386	5.944000	0.70219	2.366000	0.80165	0.650000	0.86243	GAA		0.338	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	
GPR31	2853	broad.mit.edu	37	6	167570744	167570744	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167570744G>T	ENST00000366834.1	-	1	1073	c.576C>A	c.(574-576)ctC>ctA	p.L192L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L192L(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGAACACGATGAGGCCAAAGG	0.582																																					p.L192L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576A	6						.						92.0	99.0	96.0					6																	167570744		2203	4300	6503	167490734	SO:0001819	synonymous_variant	2853	exon1			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.576C>A	6.37:g.167570744G>T			167490734	NM_005299	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	ENST00000366834.1	37	CCDS5299.1																																																																																				0.582	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299	
GPR31	2853	broad.mit.edu	37	6	167571106	167571106	+	Missense_Mutation	SNP	C	C	T	rs200346870		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167571106C>T	ENST00000366834.1	-	1	711	c.214G>A	c.(214-216)Gcc>Acc	p.A72T		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	72					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A72T(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGTAGAAGGCGGCCAGGAAA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17905	0.001		0.0	False		,,,				2504	0.0				p.A72T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	6						.						38.0	33.0	35.0					6																	167571106		2202	4299	6501	167491096	SO:0001583	missense	2853	exon1			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.214G>A	6.37:g.167571106C>T	ENSP00000355799:p.Ala72Thr		167491096	NM_005299	B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	CCDS5299.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.021	-1.430632	0.01117	.	.	ENSG00000120436	ENST00000366834	T	0.37915	1.17	3.54	-1.9	0.07665	GPCR, rhodopsin-like superfamily (1);	0.695757	0.11786	N	0.529700	T	0.08223	0.0205	L	0.43701	1.375	0.09310	N	1	B	0.32731	0.382	B	0.25506	0.061	T	0.26189	-1.0110	10	0.22109	T	0.4	-5.3889	5.6258	0.17482	0.1312:0.5408:0.0:0.328	.	72	O00270	GPR31_HUMAN	T	72	ENSP00000355799:A72T	ENSP00000355799:A72T	A	-	1	0	GPR31	167491096	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.872000	0.04219	-0.063000	0.13065	-0.671000	0.03813	GCC		0.657	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299	
TTLL2	83887	broad.mit.edu	37	6	167752266	167752266	+	Missense_Mutation	SNP	G	G	A	rs200446307	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167752266G>A	ENST00000239587.5	+	2	267	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	60					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.R60H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGGCGAGGCCGCCCAACACCA	0.572													g|||	3	0.000599042	0.0015	0.0	5008	,	,		18206	0.0		0.0	False		,,,				2504	0.001				p.R60H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179A	6						.						89.0	61.0	70.0					6																	167752266		2203	4300	6503	167672256	SO:0001583	missense	83887	exon2			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.179G>A	6.37:g.167752266G>A	ENSP00000239587:p.Arg60His		167672256	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	5.998	0.368011	0.11352	.	.	ENSG00000120440	ENST00000239587	T	0.02890	4.12	1.57	0.361	0.16107	.	.	.	.	.	T	0.00300	0.0009	N	0.03608	-0.345	0.09310	N	1	P	0.40107	0.703	B	0.18263	0.021	T	0.31081	-0.9956	9	0.15066	T	0.55	.	4.4473	0.11604	0.0:0.0:0.3896:0.6104	.	60	Q9BWV7	TTLL2_HUMAN	H	60	ENSP00000239587:R60H	ENSP00000239587:R60H	R	+	2	0	TTLL2	167672256	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.560000	0.05964	0.102000	0.17638	0.299000	0.19835	CGC		0.572	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
TTLL2	83887	broad.mit.edu	37	6	167754239	167754239	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:167754239A>C	ENST00000239587.5	+	3	939	c.851A>C	c.(850-852)aAg>aCg	p.K284T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	284	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.K284T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCCACGGAAAAGTTTGACCTC	0.398																																					p.K284T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A851C	6						.						160.0	165.0	163.0					6																	167754239		2203	4300	6503	167674229	SO:0001583	missense	83887	exon3			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.851A>C	6.37:g.167754239A>C	ENSP00000239587:p.Lys284Thr		167674229	NM_031949	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001698	0.35320	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.08193	3.12	3.59	3.59	0.41128	.	0.080583	0.45606	D	0.000351	T	0.19765	0.0475	M	0.83603	2.65	0.39486	D	0.967965	D	0.89917	1.0	D	0.79784	0.993	T	0.01800	-1.1271	10	0.72032	D	0.01	.	11.4294	0.50032	1.0:0.0:0.0:0.0	.	284	Q9BWV7	TTLL2_HUMAN	T	284;211	ENSP00000239587:K284T	ENSP00000239587:K284T	K	+	2	0	TTLL2	167674229	1.000000	0.71417	0.063000	0.19743	0.043000	0.13939	4.854000	0.62918	1.620000	0.50308	0.397000	0.26171	AAG		0.398	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949	
MLLT4	4301	broad.mit.edu	37	6	168311795	168311795	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:168311795C>A	ENST00000447894.2	+	14	1784	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y	MLLT4_ENST00000366806.2_Missense_Mutation_p.S595Y|MLLT4_ENST00000392112.1_Missense_Mutation_p.S579Y|MLLT4_ENST00000392108.3_Missense_Mutation_p.S595Y|MLLT4_ENST00000351017.4_Missense_Mutation_p.S595Y|MLLT4_ENST00000400822.3_Missense_Mutation_p.S594Y|MLLT4_ENST00000344191.4_Missense_Mutation_p.S595Y			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	595					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.S579Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGATGCTTCTGGGCCTGAG	0.363			T	MLL	AL																																p.S595Y			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1784A	6						.						144.0	141.0	142.0					6																	168311795		2203	4300	6503	168054644	SO:0001583	missense	4301	exon14			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1784C>A	6.37:g.168311795C>A	ENSP00000404595:p.Ser595Tyr		168054644	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.14|10.14	1.268871|1.268871	0.23136|0.23136	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000423229|ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.|T;T;T;T;T;T;T	.|0.04502	.|3.81;3.72;3.81;3.81;3.61;3.71;3.71	5.3|5.3	3.53|3.53	0.40419|0.40419	.|.	.|0.958916	.|0.08673	.|N	.|0.910684	T|T	0.00998|0.00998	0.0033|0.0033	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.21821	.|0.011;0.037;0.061;0.061	.|B;B;B;B	.|0.26614	.|0.042;0.043;0.071;0.071	T|T	0.49762|0.49762	-0.8905|-0.8905	5|10	.|0.56958	.|D	.|0.05	-4.3227|-4.3227	5.7862|5.7862	0.18334|0.18334	0.1375:0.6381:0.0:0.2244|0.1375:0.6381:0.0:0.2244	.|.	.|293;594;595;579	.|Q96C95;P55196-5;P55196-6;P55196-2	.|.;.;.;.	L|Y	293|595;595;595;595;579;595;594;595	.|ENSP00000341118:S595Y;ENSP00000252692:S595Y;ENSP00000375956:S595Y;ENSP00000355771:S595Y;ENSP00000375960:S579Y;ENSP00000383623:S594Y;ENSP00000404595:S595Y	.|ENSP00000345834:S595Y	F|S	+|+	3|2	2|0	MLLT4|MLLT4	168054644|168054644	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.928000|0.928000	0.56348|0.56348	-0.371000|-0.371000	0.07513|0.07513	0.638000|0.638000	0.30545|0.30545	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.363	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
MLLT4	4301	broad.mit.edu	37	6	168312121	168312121	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:168312121C>A	ENST00000447894.2	+	15	1989	c.1989C>A	c.(1987-1989)gtC>gtA	p.V663V	MLLT4_ENST00000366806.2_Silent_p.V663V|MLLT4_ENST00000392112.1_Silent_p.V647V|MLLT4_ENST00000392108.3_Silent_p.V663V|MLLT4_ENST00000351017.4_Silent_p.V663V|MLLT4_ENST00000400822.3_Silent_p.V662V|MLLT4_ENST00000344191.4_Silent_p.V663V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	663					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.V647V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CACATAAAGTCATTGCAGTCG	0.483			T	MLL	AL																																p.V663V			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.C1989A	6						.						105.0	91.0	96.0					6																	168312121		2203	4300	6503	168054970	SO:0001819	synonymous_variant	4301	exon15			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.1989C>A	6.37:g.168312121C>A			168054970	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	8.232	0.804798	0.16467	.	.	ENSG00000130396	ENST00000423229	.	.	.	5.5	3.7	0.42460	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	0.5846	10.1366	0.42710	0.0:0.7213:0.1359:0.1428	.	.	.	.	N	362	.	.	H	+	1	0	MLLT4	168054970	1.000000	0.71417	0.977000	0.42913	0.744000	0.42396	1.979000	0.40608	0.651000	0.30788	0.467000	0.42956	CAT		0.483	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
MLLT4	4301	broad.mit.edu	37	6	168351893	168351893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:168351893C>T	ENST00000447894.2	+	29	3838	c.3838C>T	c.(3838-3840)Cga>Tga	p.R1280*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.R1280*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.R1263*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.R1280*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.R1287*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.R1279*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.R1280*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1280					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1264*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAAGAACTTCGAGAAGATAA	0.378			T	MLL	AL																																p.R1280X			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3838T	6						.						68.0	70.0	69.0					6																	168351893		2203	4300	6503	168094742	SO:0001587	stop_gained	4301	exon29			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3838C>T	6.37:g.168351893C>T	ENSP00000404595:p.Arg1280*		168094742	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	40	8.019383	0.98613	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.5	2.46	0.29980	.	0.304658	0.25604	N	0.029535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2537	15.7486	0.77967	0.5748:0.4252:0.0:0.0	.	.	.	.	X	1280;1287;1280;1280;1263;1280;1279;1280	.	ENSP00000345834:R1280X	R	+	1	2	MLLT4	168094742	0.052000	0.20516	0.082000	0.20525	0.267000	0.26476	0.256000	0.18351	0.722000	0.32252	-0.182000	0.12963	CGA		0.378	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
FRMD1	79981	broad.mit.edu	37	6	168464367	168464367	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:168464367G>T	ENST00000283309.6	-	6	782	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.L172M|FRMD1_ENST00000537786.1_Missense_Mutation_p.L11M	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	240	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.L240M(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTGGGGCTCAGGCCCTGGCGC	0.642																																					p.L172M	GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514A	6						.						89.0	75.0	80.0					6																	168464367		2203	4300	6503	168207216	SO:0001583	missense	79981	exon6				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.718C>A	6.37:g.168464367G>T	ENSP00000283309:p.Leu240Met		168207216	NM_001122841	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	7.527	0.657943	0.14645	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.81163	-1.46;-1.46;0.93	2.83	0.801	0.18679	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.104953	0.38837	U	0.001558	T	0.61324	0.2338	L	0.46741	1.465	0.09310	N	1	P;P;P;P	0.46395	0.771;0.877;0.851;0.771	P;P;P;P	0.54026	0.673;0.74;0.623;0.673	T	0.58645	-0.7600	10	0.08599	T	0.76	.	5.4427	0.16517	0.1932:0.0:0.6507:0.156	.	152;240;172;112	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	M	240;172;11	ENSP00000283309:L240M;ENSP00000414115:L172M;ENSP00000440078:L11M	ENSP00000283309:L240M	L	-	1	2	FRMD1	168207216	0.078000	0.21339	0.267000	0.24556	0.229000	0.25112	0.305000	0.19254	0.398000	0.25338	-0.680000	0.03767	CTG		0.642	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919	
THBS2	7058	broad.mit.edu	37	6	169623400	169623400	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:169623400G>A	ENST00000366787.3	-	19	3193	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	982	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R982C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTTGATGGCGAATGACCCAG	0.557																																					p.R982C	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2944T	6						.						102.0	91.0	95.0					6																	169623400		2203	4300	6503	169365325	SO:0001583	missense	7058	exon19				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2944C>T	6.37:g.169623400G>A	ENSP00000355751:p.Arg982Cys		169365325	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822508	0.71028	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95412	-3.7	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.41938	U	0.000797	D	0.97093	0.9050	M	0.71581	2.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97517	1.0070	10	0.59425	D	0.04	-34.6025	17.7107	0.88321	0.0:0.0:1.0:0.0	.	982	P35442	TSP2_HUMAN	C	982;240	ENSP00000355751:R982C	ENSP00000355751:R982C	R	-	1	0	THBS2	169365325	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.720000	0.54933	2.150000	0.67090	0.471000	0.43371	CGC		0.557	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	broad.mit.edu	37	6	169629749	169629749	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:169629749G>T	ENST00000366787.3	-	15	2426	c.2177C>A	c.(2176-2178)tCt>tAt	p.S726Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	726					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S726Y(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGCCCAGAATTTGGCAG	0.483																																					p.S726Y	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2177A	6						.						160.0	140.0	147.0					6																	169629749		2203	4300	6503	169371674	SO:0001583	missense	7058	exon15				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2177C>A	6.37:g.169629749G>T	ENSP00000355751:p.Ser726Tyr		169371674	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557130	0.86231	.	.	ENSG00000186340	ENST00000366787	D	0.97906	-4.6	4.51	4.51	0.55191	.	0.000000	0.40385	U	0.001101	D	0.98998	0.9658	M	0.92833	3.35	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99712	1.1007	10	0.87932	D	0	-26.1935	17.5907	0.87995	0.0:0.0:1.0:0.0	.	726	P35442	TSP2_HUMAN	Y	726	ENSP00000355751:S726Y	ENSP00000355751:S726Y	S	-	2	0	THBS2	169371674	1.000000	0.71417	0.729000	0.30791	0.949000	0.60115	9.159000	0.94728	2.211000	0.71520	0.579000	0.79373	TCT		0.483	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
THBS2	7058	broad.mit.edu	37	6	169648592	169648592	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:169648592C>T	ENST00000366787.3	-	4	778	c.529G>A	c.(529-531)Gag>Aag	p.E177K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	177	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E177K(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TAGAAGGGCTCGTCCAGAGCG	0.612																																					p.E177K	Esophageal Squamous(91;219 1934 18562 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	6						.						77.0	74.0	75.0					6																	169648592		2203	4300	6503	169390517	SO:0001583	missense	7058	exon4				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.529G>A	6.37:g.169648592C>T	ENSP00000355751:p.Glu177Lys		169390517	NM_003247	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636439	0.87760	.	.	ENSG00000186340	ENST00000366787	T	0.02216	4.39	4.5	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.41396	U	0.000888	T	0.04861	0.0131	M	0.69823	2.125	0.49299	D	0.999771	D	0.89917	1.0	D	0.80764	0.994	T	0.47484	-0.9114	10	0.06891	T	0.86	-50.2577	17.5714	0.87935	0.0:1.0:0.0:0.0	.	177	P35442	TSP2_HUMAN	K	177	ENSP00000355751:E177K	ENSP00000355751:E177K	E	-	1	0	THBS2	169390517	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	5.608000	0.67654	2.204000	0.70986	0.563000	0.77884	GAG		0.612	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
WDR27	253769	broad.mit.edu	37	6	170062510	170062510	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170062510C>T	ENST00000448612.1	-	9	1024	c.915G>A	c.(913-915)caG>caA	p.Q305Q	WDR27_ENST00000333572.6_Silent_p.Q305Q|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Silent_p.Q178Q	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	275						nucleus (GO:0005634)		p.Q305Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TAGAGGGAAGCTGGCTTTCTT	0.448																																					p.Q305Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G915A	6						.						94.0	96.0	95.0					6																	170062510		1910	4146	6056	169804435	SO:0001819	synonymous_variant	253769	exon9			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.915G>A	6.37:g.170062510C>T			169804435	NM_182552	A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	CCDS47520.2																																																																																				0.448	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552	
PHF10	55274	broad.mit.edu	37	6	170105399	170105399	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170105399T>C	ENST00000339209.4	-	11	1364	c.1241A>G	c.(1240-1242)gAt>gGt	p.D414G	PHF10_ENST00000366780.4_Missense_Mutation_p.D412G|C6orf120_ENST00000332290.2_3'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	414					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)	p.D326G(1)		endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CATTGTCATATCCAGGCAAGA	0.363																																					p.D414G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1241G	6						.						107.0	90.0	96.0					6																	170105399		2203	4299	6502	169847324	SO:0001583	missense	55274	exon11			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1241A>G	6.37:g.170105399T>C	ENSP00000341805:p.Asp414Gly		169847324	NM_018288	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896198	0.72639	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.85861	-2.04;-2.04	5.97	5.97	0.96955	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.88596	0.6479	L	0.54323	1.7	0.80722	D	1	D;B	0.71674	0.998;0.256	D;B	0.81914	0.995;0.348	D	0.89307	0.3630	10	0.54805	T	0.06	-30.2833	15.6316	0.76912	0.0:0.0:0.0:1.0	.	412;414	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	G	412;414	ENSP00000355743:D412G;ENSP00000341805:D414G	ENSP00000341805:D414G	D	-	2	0	PHF10	169847324	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.457000	0.80775	2.288000	0.76882	0.533000	0.62120	GAT		0.363	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288	
DLL1	28514	broad.mit.edu	37	6	170597420	170597420	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170597420G>A	ENST00000366756.3	-	4	910	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	193	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.R193C(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TCCCGGGGACGGCAGAAAACG	0.627																																					p.R193C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	6						.						84.0	70.0	74.0					6																	170597420		2203	4300	6503	170439345	SO:0001583	missense	28514	exon4			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.577C>T	6.37:g.170597420G>A	ENSP00000355718:p.Arg193Cys		170439345	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634615	0.47049	.	.	ENSG00000198719	ENST00000366756	T	0.03330	3.97	4.35	3.39	0.38822	Delta/Serrate/lag-2 (DSL) protein (3);	0.058856	0.64402	N	0.000003	T	0.17152	0.0412	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.07424	-1.0773	10	0.87932	D	0	.	14.7455	0.69488	0.0:0.0:0.8456:0.1544	.	193;193	B5M0B3;O00548	.;DLL1_HUMAN	C	193	ENSP00000355718:R193C	ENSP00000355718:R193C	R	-	1	0	DLL1	170439345	1.000000	0.71417	0.995000	0.50966	0.198000	0.23893	4.167000	0.58209	2.258000	0.74832	0.462000	0.41574	CGT		0.627	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
DLL1	28514	broad.mit.edu	37	6	170597466	170597466	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170597466G>A	ENST00000366756.3	-	4	864	c.531C>T	c.(529-531)ttC>ttT	p.F177F	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	177	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.F177F(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CGTCACACACGAAGCGGTAGG	0.652																																					p.F177F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	6						.						79.0	65.0	70.0					6																	170597466		2203	4300	6503	170439391	SO:0001819	synonymous_variant	28514	exon4			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.531C>T	6.37:g.170597466G>A			170439391	NM_005618	B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	CCDS5313.1																																																																																				0.652	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		
FAM120B	84498	broad.mit.edu	37	6	170626643	170626643	+	Silent	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170626643A>T	ENST00000476287.1	+	2	273	c.165A>T	c.(163-165)ccA>ccT	p.P55P	FAM120B_ENST00000537664.1_Silent_p.P78P|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Silent_p.P67P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	55					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P55P(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GGTATACTCCAGAATCTTGGA	0.443																																					p.P55P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A165T	6						.						173.0	161.0	165.0					6																	170626643		2203	4300	6503	170468568	SO:0001819	synonymous_variant	84498	exon2			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.165A>T	6.37:g.170626643A>T			170468568	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																				0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
FAM120B	84498	broad.mit.edu	37	6	170667322	170667322	+	Silent	SNP	G	G	A	rs150094606		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170667322G>A	ENST00000476287.1	+	6	2307	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	FAM120B_ENST00000252510.9_Silent_p.T65T|FAM120B_ENST00000537664.1_Silent_p.T756T|FAM120B_ENST00000540480.1_Silent_p.T745T	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	733					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T733T(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGTGGACACGCTTTGCCTGG	0.443																																					p.T733T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2199A	6						.	G		1,4403	2.1+/-5.4	0,1,2201	111.0	83.0	92.0		2199	-9.0	0.0	6	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	FAM120B	NM_032448.1		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		733/911	170667322	1,13003	2202	4300	6502	170509247	SO:0001819	synonymous_variant	84498	exon6			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2199G>A	6.37:g.170667322G>A			170509247	NM_032448	B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	CCDS5314.1																																																																																				0.443	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
FAM120B	84498	broad.mit.edu	37	6	170697567	170697567	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170697567C>A	ENST00000476287.1	+	7	2584	c.2476C>A	c.(2476-2478)Ctt>Att	p.L826I	FAM120B_ENST00000252510.9_Missense_Mutation_p.L158I|FAM120B_ENST00000537664.1_Missense_Mutation_p.L849I|FAM120B_ENST00000540480.1_Missense_Mutation_p.L838I	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	826					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L826I(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGTGGAGGTTCTTTTAGAACA	0.438																																					p.L826I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2476A	6						.						75.0	74.0	74.0					6																	170697567		2203	4300	6503	170539492	SO:0001583	missense	84498	exon7			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2476C>A	6.37:g.170697567C>A	ENSP00000417970:p.Leu826Ile		170539492	NM_032448	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159520	0.78226	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.51	5.51	0.81932	.	0.085279	0.47093	D	0.000251	T	0.48857	0.1523	N	0.24115	0.695	0.38138	D	0.938373	D;D	0.55605	0.972;0.972	P;P	0.60541	0.876;0.876	T	0.50215	-0.8854	10	0.46703	T	0.11	-23.9951	17.5538	0.87885	0.0:1.0:0.0:0.0	.	826;826	Q96EK7;F2Z2E1	F120B_HUMAN;.	I	838;849;826;158	ENSP00000444125:L838I;ENSP00000440125:L849I;ENSP00000417970:L826I;ENSP00000252510:L158I	ENSP00000252510:L158I	L	+	1	0	FAM120B	170539492	0.989000	0.36119	0.085000	0.20634	0.140000	0.21249	3.905000	0.56333	2.745000	0.94114	0.655000	0.94253	CTT		0.438	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448	
IRF4	3662	broad.mit.edu	37	6	407593	407593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:407593G>T	ENST00000380956.4	+	9	1477	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	451					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E451*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTCTATTCAAGAATGAAAAAT	0.413			T	IGH@	MM																																p.E450X			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1348T	6						.						64.0	65.0	65.0					6																	407593		2203	4300	6503	352593	SO:0001587	stop_gained	3662	exon9			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1351G>T	6.37:g.407593G>T	ENSP00000370343:p.Glu451*		352593	NM_001195286	Q5VUI7|Q99660	Nonsense_Mutation	SNP	ENST00000380956.4	37	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	37	6.301761	0.97458	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	.	.	.	5.51	5.51	0.81932	.	0.799759	0.11784	N	0.529910	.	.	.	.	.	.	0.35176	D	0.772002	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	.	.	.	X	451;480	.	ENSP00000370343:E451X	E	+	1	0	IRF4	352593	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.789000	0.85783	2.600000	0.87896	0.655000	0.94253	GAA		0.413	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1		
SERPINB6	5269	broad.mit.edu	37	6	2954880	2954880	+	Missense_Mutation	SNP	C	C	T	rs368785463		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:2954880C>T	ENST00000380520.1	-	3	2370	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	SERPINB6_ENST00000335686.5_Missense_Mutation_p.A126T|SERPINB6_ENST00000380546.3_Missense_Mutation_p.A126T|SERPINB6_ENST00000380539.1_Missense_Mutation_p.A126T|SERPINB6_ENST00000380529.1_Missense_Mutation_p.A126T|SERPINB6_ENST00000380524.1_Missense_Mutation_p.A126T			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	126					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A126T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TTCTCTACGGCGCTGATAAAG	0.398																																					p.A126T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	6						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	165.0	155.0	159.0		376,376	4.3	0.0	6		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB6	NM_001195291.1,NM_004568.5	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	126/377,126/377	2954880	1,13005	2203	4300	6503	2899879	SO:0001583	missense	5269	exon5			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.376G>A	6.37:g.2954880C>T	ENSP00000369891:p.Ala126Thr		2899879	NM_001195291	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402525	0.25291	0.0	1.16E-4	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.22	4.34	0.51931	Serpin domain (3);	0.670320	0.16382	N	0.216849	T	0.73946	0.3652	M	0.77820	2.39	0.09310	N	1	P	0.39003	0.654	B	0.40901	0.343	T	0.68153	-0.5484	10	0.45353	T	0.12	.	8.4231	0.32712	0.1557:0.7643:0.0:0.0799	.	126	P35237	SPB6_HUMAN	T	126	ENSP00000369896:A126T;ENSP00000369891:A126T;ENSP00000338358:A126T;ENSP00000369901:A126T;ENSP00000369912:A126T;ENSP00000369919:A126T	ENSP00000338358:A126T	A	-	1	0	SERPINB6	2899879	0.006000	0.16342	0.007000	0.13788	0.005000	0.04900	2.113000	0.41902	1.491000	0.48482	0.650000	0.86243	GCC		0.398	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1		
TUBB2B	347733	broad.mit.edu	37	6	3225000	3225000	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:3225000G>A	ENST00000259818.7	-	4	1514	c.1323C>T	c.(1321-1323)ggC>ggT	p.G441G	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	441					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G441G(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCTCGTCCTCGCCCTCCTCCT	0.647																																					p.G441G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323T	6						.						84.0	61.0	69.0					6																	3225000		2203	4300	6503	3169999	SO:0001819	synonymous_variant	347733	exon4			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.1323C>T	6.37:g.3225000G>A			3169999	NM_178012	A8K068	Silent	SNP	ENST00000259818.7	37	CCDS4485.1																																																																																				0.647	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012	
PRPF4B	8899	broad.mit.edu	37	6	4032029	4032029	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4032029C>A	ENST00000337659.6	+	2	378	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S79Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	93	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S93Y(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGGGTATGTCTCCAGCAAAA	0.333																																					p.S93Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278A	6						.						86.0	82.0	83.0					6																	4032029		2203	4300	6503	3977028	SO:0001583	missense	8899	exon2			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.278C>A	6.37:g.4032029C>A	ENSP00000337194:p.Ser93Tyr		3977028	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406793	0.62399	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70399	-0.48;-0.48	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000005	T	0.71273	0.3320	L	0.29908	0.895	0.52099	D	0.999941	D	0.61697	0.99	D	0.69142	0.962	T	0.76105	-0.3081	10	0.87932	D	0	.	16.6747	0.85275	0.0:1.0:0.0:0.0	.	93	Q13523	PRP4B_HUMAN	Y	93;79	ENSP00000337194:S93Y;ENSP00000439331:S79Y	ENSP00000337194:S93Y	S	+	2	0	PRPF4B	3977028	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.276000	0.72601	2.511000	0.84671	0.462000	0.41574	TCT		0.333	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4032160	4032160	+	Missense_Mutation	SNP	T	T	G	rs149525756		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4032160T>G	ENST00000337659.6	+	2	509	c.409T>G	c.(409-411)Ttg>Gtg	p.L137V	PRPF4B_ENST00000538861.1_Missense_Mutation_p.L123V	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	137	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L137V(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGGGCTCATTTTGCAAGGTTA	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		19720	0.001		0.0	False		,,,				2504	0.0				p.L137V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T409G	6						.						81.0	88.0	86.0					6																	4032160		2203	4300	6503	3977159	SO:0001583	missense	8899	exon2			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.409T>G	6.37:g.4032160T>G	ENSP00000337194:p.Leu137Val		3977159	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.02	3.003471	0.54254	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.71341	-0.56;-0.51	5.54	3.07	0.35406	.	0.000000	0.53938	D	0.000053	T	0.68924	0.3054	L	0.50333	1.59	0.49130	D	0.999751	D	0.63880	0.993	D	0.70016	0.967	T	0.70502	-0.4854	10	0.59425	D	0.04	.	9.2309	0.37437	0.0:0.1562:0.0:0.8438	.	137	Q13523	PRP4B_HUMAN	V	137;123	ENSP00000337194:L137V;ENSP00000439331:L123V	ENSP00000337194:L137V	L	+	1	2	PRPF4B	3977159	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	0.861000	0.27885	0.353000	0.24079	0.379000	0.24179	TTG		0.418	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4037801	4037801	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4037801G>T	ENST00000337659.6	+	3	1509	c.1409G>T	c.(1408-1410)aGa>aTa	p.R470I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R456I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	470	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R470I(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCTCCTCGGAGAAGGTAAAGA	0.438																																					p.R470I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1409T	6						.						80.0	66.0	71.0					6																	4037801		2203	4300	6503	3982800	SO:0001583	missense	8899	exon3			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1409G>T	6.37:g.4037801G>T	ENSP00000337194:p.Arg470Ile		3982800	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736471	0.69189	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70749	-0.5;-0.51	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.61703	1.905	0.80722	D	1	D	0.56968	0.978	B	0.42738	0.396	T	0.71603	-0.4543	10	0.62326	D	0.03	.	18.4896	0.90842	0.0:0.0:1.0:0.0	.	470	Q13523	PRP4B_HUMAN	I	470;456	ENSP00000337194:R470I;ENSP00000439331:R456I	ENSP00000337194:R470I	R	+	2	0	PRPF4B	3982800	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.857000	0.62939	2.342000	0.79632	0.561000	0.74099	AGA		0.438	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4041050	4041050	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4041050G>A	ENST00000337659.6	+	4	1557	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R472Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	486	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R486Q(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGGCGGTCTCGATCACGCGGT	0.433																																					p.R486Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1457A	6						.						65.0	70.0	68.0					6																	4041050		2203	4300	6503	3986049	SO:0001583	missense	8899	exon4			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1457G>A	6.37:g.4041050G>A	ENSP00000337194:p.Arg486Gln		3986049	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452050	0.63290	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70869	-0.5;-0.52	5.49	5.49	0.81192	.	0.111160	0.39083	N	0.001475	T	0.37972	0.1023	L	0.34521	1.04	0.50632	D	0.99988	P	0.35328	0.495	B	0.19946	0.027	T	0.37686	-0.9695	10	0.15952	T	0.53	.	13.0158	0.58757	0.074:0.0:0.926:0.0	.	486	Q13523	PRP4B_HUMAN	Q	486;472	ENSP00000337194:R486Q;ENSP00000439331:R472Q	ENSP00000337194:R486Q	R	+	2	0	PRPF4B	3986049	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.743000	0.55104	2.735000	0.93741	0.591000	0.81541	CGA		0.433	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4057346	4057346	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4057346A>C	ENST00000337659.6	+	13	2758	c.2658A>C	c.(2656-2658)aaA>aaC	p.K886N	PRPF4B_ENST00000538861.1_Missense_Mutation_p.K872N	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	886	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K375N(1)|p.K886N(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATACTGGAAAAATTTTATTCC	0.343																																					p.K886N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2658C	6						.						96.0	96.0	96.0					6																	4057346		2203	4300	6503	4002345	SO:0001583	missense	8899	exon13			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2658A>C	6.37:g.4057346A>C	ENSP00000337194:p.Lys886Asn		4002345	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560938	0.45590	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.67171	-0.25;-0.25	6.04	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	L	0.53561	1.675	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68648	-0.5353	10	0.66056	D	0.02	.	9.7957	0.40733	0.7793:0.0:0.2207:0.0	.	886	Q13523	PRP4B_HUMAN	N	886;872	ENSP00000337194:K886N;ENSP00000439331:K872N	ENSP00000337194:K886N	K	+	3	2	PRPF4B	4002345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.560000	0.36331	0.167000	0.19631	0.460000	0.39030	AAA		0.343	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
PRPF4B	8899	broad.mit.edu	37	6	4058968	4058968	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4058968C>T	ENST00000337659.6	+	14	2840	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R900*|PRPF4B_ENST00000494674.1_3'UTR	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	914	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R403*(1)|p.R914*(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGATGATTCGAAAAGGTGT	0.294																																					p.R914X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2740T	6						.						50.0	49.0	50.0					6																	4058968		2203	4298	6501	4003967	SO:0001587	stop_gained	8899	exon14			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2740C>T	6.37:g.4058968C>T	ENSP00000337194:p.Arg914*		4003967	NM_003913	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Nonsense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570608	0.96540	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	.	.	.	5.93	3.95	0.45737	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6523	0.85219	0.2478:0.7521:0.0:0.0	.	.	.	.	X	914;900	.	ENSP00000337194:R914X	R	+	1	2	PRPF4B	4003967	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.723000	0.47277	1.472000	0.48140	0.655000	0.94253	CGA		0.294	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2		
FAM217A	222826	broad.mit.edu	37	6	4069220	4069220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4069220C>A	ENST00000274673.3	-	7	1640	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	413								p.E413*(1)									AATGAGAGTTCTTGGCATGGA	0.383																																					p.E413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1237T	6						.						114.0	115.0	115.0					6																	4069220		2203	4300	6503	4014219	SO:0001587	stop_gained	222826	exon7			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1237G>T	6.37:g.4069220C>A	ENSP00000274673:p.Glu413*		4014219	NM_173563	Q5JYK1	Nonsense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751902	0.89753	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	.	.	.	4.76	4.76	0.60689	.	0.398250	0.25055	N	0.033498	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.6916	13.1418	0.59438	0.0:1.0:0.0:0.0	.	.	.	.	X	413;260;541	.	ENSP00000274673:E413X	E	-	1	0	C6orf146	4014219	0.996000	0.38824	0.335000	0.25508	0.107000	0.19398	1.552000	0.36244	2.471000	0.83476	0.460000	0.39030	GAA		0.383	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563	
FAM217A	222826	broad.mit.edu	37	6	4069599	4069599	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4069599C>A	ENST00000274673.3	-	7	1261	c.858G>T	c.(856-858)ttG>ttT	p.L286F	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	286								p.L286F(1)									AACGAGTTATCAAGTGTTCAA	0.423																																					p.L286F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G858T	6						.						113.0	111.0	112.0					6																	4069599		2203	4300	6503	4014598	SO:0001583	missense	222826	exon7			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.858G>T	6.37:g.4069599C>A	ENSP00000274673:p.Leu286Phe		4014598	NM_173563	Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824796	0.50739	.	.	ENSG00000145975	ENST00000274673;ENST00000538080;ENST00000470599	T	0.26067	1.76	5.43	4.54	0.55810	.	0.191235	0.34067	N	0.004284	T	0.33585	0.0868	M	0.67953	2.075	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.14035	-1.0487	10	0.48119	T	0.1	-9.8763	11.8424	0.52361	0.0:0.8245:0.1755:0.0	.	286	Q8IXS0	CF146_HUMAN	F	286;133;414	ENSP00000274673:L286F	ENSP00000274673:L286F	L	-	3	2	C6orf146	4014598	0.938000	0.31826	0.047000	0.18901	0.819000	0.46315	0.150000	0.16263	1.468000	0.48064	0.650000	0.86243	TTG		0.423	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563	
CDYL	9425	broad.mit.edu	37	6	4935846	4935846	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4935846C>T	ENST00000328908.5	+	5	1082	c.951C>T	c.(949-951)gaC>gaT	p.D317D	CDYL_ENST00000397588.3_Silent_p.D263D|CDYL_ENST00000449732.2_Silent_p.D131D|CDYL_ENST00000343762.5_Silent_p.D131D|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	317					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.D317D(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AATTTATTGACGACAGAAGAG	0.458																																					p.D131D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C393T	6						.						115.0	112.0	113.0					6																	4935846		2203	4300	6503	4880845	SO:0001819	synonymous_variant	9425	exon3			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.951C>T	6.37:g.4935846C>T			4880845	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																					0.458	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
CDYL	9425	broad.mit.edu	37	6	4943786	4943786	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4943786C>T	ENST00000328908.5	+	7	1421	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CDYL_ENST00000397588.3_Silent_p.F376F|CDYL_ENST00000449732.2_Silent_p.F244F|CDYL_ENST00000343762.5_Silent_p.F244F|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	430					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.F430F(3)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTAGAAACTTCGTGAATACTT	0.338																																					p.F244F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C732T	6						.						64.0	67.0	66.0					6																	4943786		2203	4300	6503	4888785	SO:0001819	synonymous_variant	9425	exon5			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1290C>T	6.37:g.4943786C>T			4888785	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																					0.338	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
CDYL	9425	broad.mit.edu	37	6	4943889	4943889	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4943889G>T	ENST00000328908.5	+	7	1524	c.1393G>T	c.(1393-1395)Gct>Tct	p.A465S	CDYL_ENST00000397588.3_Missense_Mutation_p.A411S|CDYL_ENST00000449732.2_Missense_Mutation_p.A279S|CDYL_ENST00000343762.5_Missense_Mutation_p.A279S|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	465					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.A465S(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGTGGTTTGGGCTAATGAAAA	0.443																																					p.A279S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835T	6						.						151.0	147.0	148.0					6																	4943889		2203	4300	6503	4888888	SO:0001583	missense	9425	exon5			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1393G>T	6.37:g.4943889G>T	ENSP00000330512:p.Ala465Ser		4888888	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37		.	.	.	.	.	.	.	.	.	.	G	35	5.525392	0.96431	.	.	ENSG00000153046	ENST00000328908;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.63	5.63	0.86233	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75484	0.986;0.986	T	0.74699	-0.3577	10	0.87932	D	0	.	18.669	0.91504	0.0:0.0:1.0:0.0	.	411;465	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	S	465;411;279;279	ENSP00000330512:A465S;ENSP00000380718:A411S;ENSP00000394076:A279S;ENSP00000340908:A279S	ENSP00000330512:A465S	A	+	1	0	CDYL	4888888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.640000	0.98453	2.644000	0.89710	0.655000	0.94253	GCT		0.443	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
RPP40	10799	broad.mit.edu	37	6	4995410	4995410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:4995410G>A	ENST00000380051.2	-	8	1038	c.994C>T	c.(994-996)Cga>Tga	p.R332*	RPP40_ENST00000464646.1_Nonsense_Mutation_p.R272*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.R309*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	332					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.R332*(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCTCCTTTTCGAAAACCATGT	0.398																																					p.R332X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C994T	6						.						75.0	76.0	76.0					6																	4995410		2203	4300	6503	4940409	SO:0001587	stop_gained	10799	exon8			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.994C>T	6.37:g.4995410G>A	ENSP00000369391:p.Arg332*		4940409	NM_006638	Q5VX97|Q8WVK8	Nonsense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487181	0.26686	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	.	.	.	5.07	1.29	0.21616	.	1.273270	0.05010	N	0.470744	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.923	10.4971	0.44783	0.351:0.0:0.649:0.0	.	.	.	.	X	332;309;272	.	ENSP00000317998:R309X	R	-	1	2	RPP40	4940409	1.000000	0.71417	0.001000	0.08648	0.064000	0.16182	3.228000	0.51270	-0.277000	0.09193	-0.797000	0.03246	CGA		0.398	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	
NRN1	51299	broad.mit.edu	37	6	5999314	5999314	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:5999314G>A	ENST00000244766.2	-	3	541	c.324C>T	c.(322-324)ttC>ttT	p.F108F	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	108					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)		p.F108F(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CGCAGAGTTCGAATAAGCTGC	0.582																																					p.F108F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	6						.						86.0	80.0	82.0					6																	5999314		2203	4300	6503	5944313	SO:0001819	synonymous_variant	51299	exon3			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.324C>T	6.37:g.5999314G>A			5944313	NM_016588	B2RA93|Q7Z4Y1	Silent	SNP	ENST00000244766.2	37	CCDS4495.1																																																																																				0.582	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1		
RREB1	6239	broad.mit.edu	37	6	7231542	7231542	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:7231542G>T	ENST00000349384.6	+	10	3524	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H	RREB1_ENST00000379938.2_Missense_Mutation_p.Q1070H|RREB1_ENST00000379933.3_Missense_Mutation_p.Q1070H|RREB1_ENST00000334984.6_Missense_Mutation_p.Q1070H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1070					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1070H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCATTGCCCAGATCATCTCAT	0.642																																					p.Q1070H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3210T	6						.						37.0	45.0	42.0					6																	7231542		2203	4300	6503	7176541	SO:0001583	missense	6239	exon10			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3210G>T	6.37:g.7231542G>T	ENSP00000305560:p.Gln1070His		7176541	NM_001003700	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244987	0.79912	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.27557	1.83;1.83;1.83;1.66	5.84	4.98	0.66077	.	0.000000	0.56097	D	0.000021	T	0.41994	0.1183	M	0.66939	2.045	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.46076	-0.9217	10	0.72032	D	0.01	-54.9402	11.19	0.48679	0.1401:0.0:0.8599:0.0	.	1070;1070;1070	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	1070	ENSP00000369265:Q1070H;ENSP00000369270:Q1070H;ENSP00000305560:Q1070H;ENSP00000335574:Q1070H	ENSP00000335574:Q1070H	Q	+	3	2	RREB1	7176541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.556000	0.67307	1.473000	0.48159	-0.150000	0.13652	CAG		0.642	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
CAGE1	285782	broad.mit.edu	37	6	7374037	7374037	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:7374037C>A	ENST00000512086.1	-	5	1217	c.1015G>T	c.(1015-1017)Gaa>Taa	p.E339*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.E339*|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.E203*|CAGE1_ENST00000502583.1_Nonsense_Mutation_p.E339*|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.E339*			Q8TC20	CAGE1_HUMAN	cancer antigen 1	339								p.E339*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATCTGTAGTTCTTTAACCCTC	0.328																																					p.E203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G607T	6						.						121.0	107.0	111.0					6																	7374037		1846	4104	5950	7319036	SO:0001587	stop_gained	285782	exon4			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1015G>T	6.37:g.7374037C>A	ENSP00000427583:p.Glu339*		7319036	NM_205864	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Nonsense_Mutation	SNP	ENST00000512086.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.448282	0.96205	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	.	.	.	5.42	5.42	0.78866	.	0.094643	0.46442	D	0.000297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.9155	14.7243	0.69332	0.0:1.0:0.0:0.0	.	.	.	.	X	339;339;339;203;339;339;339;351	.	ENSP00000296742:E203X	E	-	1	0	CAGE1	7319036	0.998000	0.40836	0.327000	0.25402	0.803000	0.45373	1.884000	0.39668	2.553000	0.86117	0.591000	0.81541	GAA		0.328	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745	
RIOK1	83732	broad.mit.edu	37	6	7403054	7403054	+	Missense_Mutation	SNP	C	C	T	rs138314843		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:7403054C>T	ENST00000379834.2	+	8	1198	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	231	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R224C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTCAAGATTTCGTCATGGCTA	0.318																																					p.R231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	6						.	C	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	67.0	70.0	69.0		691,	6.2	1.0	6	dbSNP_134	69	0,8600		0,0,4300	yes	missense,utr-5	RIOK1	NM_031480.2,NM_153005.1	180,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	231/569,	7403054	1,13005	2203	4300	6503	7348053	SO:0001583	missense	83732	exon8			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.691C>T	6.37:g.7403054C>T	ENSP00000369162:p.Arg231Cys		7348053	NM_031480	B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261834	0.95368	2.27E-4	0.0	ENSG00000124784	ENST00000379834	T	0.07800	3.16	6.17	6.17	0.99709	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58284	-0.7663	10	0.87932	D	0	-14.4981	19.8676	0.96824	0.0:1.0:0.0:0.0	.	231	Q9BRS2	RIOK1_HUMAN	C	231	ENSP00000369162:R231C	ENSP00000369162:R231C	R	+	1	0	RIOK1	7348053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.401000	0.79962	2.941000	0.99782	0.655000	0.94253	CGT		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	
DSP	1832	broad.mit.edu	37	6	7581641	7581641	+	Missense_Mutation	SNP	G	G	A	rs142885240	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:7581641G>A	ENST00000379802.3	+	23	5559	c.5218G>A	c.(5218-5220)Gaa>Aaa	p.E1740K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1740	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1740K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACGAAGCGAAGCGGACAG	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		17292	0.0		0.002	False		,,,				2504	0.0				p.E1740K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5218A	6						.	G	,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	121.0	126.0	124.0		,5218	5.1	0.0	6	dbSNP_134	124	11,8589	8.4+/-32.0	0,11,4289	yes	intron,missense	DSP	NM_001008844.1,NM_004415.2	,56	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	,possibly-damaging	,1740/2872	7581641	12,12994	2203	4300	6503	7526640	SO:0001583	missense	1832	exon23			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5218G>A	6.37:g.7581641G>A	ENSP00000369129:p.Glu1740Lys		7526640	NM_004415	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686523	0.29962	2.27E-4	0.001279	ENSG00000096696	ENST00000379802	T	0.74526	-0.85	5.98	5.09	0.68999	.	0.087662	0.48767	D	0.000161	T	0.46658	0.1404	L	0.36672	1.1	0.80722	D	1	D	0.53745	0.962	B	0.33960	0.173	T	0.51068	-0.8752	10	0.22706	T	0.39	.	17.0821	0.86601	0.0:0.1268:0.8732:0.0	.	1740	P15924	DESP_HUMAN	K	1740	ENSP00000369129:E1740K	ENSP00000369129:E1740K	E	+	1	0	DSP	7526640	1.000000	0.71417	0.049000	0.19019	0.282000	0.26991	3.140000	0.50585	1.496000	0.48567	0.650000	0.86243	GAA		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
TXNDC5	81567	broad.mit.edu	37	6	7883385	7883385	+	Missense_Mutation	SNP	C	C	T	rs530530741		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:7883385C>T	ENST00000379757.4	-	10	1328	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	TXNDC5_ENST00000473453.1_Missense_Mutation_p.E323K|TXNDC5_ENST00000539054.1_Missense_Mutation_p.E359K|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	431					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.E431K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TCCTAAAGTTCGTCTTTCGCT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17811	0.0		0.001	False		,,,				2504	0.0				p.E431K	Ovarian(119;1430 1625 3928 26125 34589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	6						.						158.0	115.0	130.0					6																	7883385		2203	4300	6503	7828384	SO:0001583	missense	81567	exon10			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1291G>A	6.37:g.7883385C>T	ENSP00000369081:p.Glu431Lys		7828384	NM_030810	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518717	0.85495	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03860	3.8;3.78;3.83	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	0.977;1.0	P;D	0.79784	0.672;0.993	T	0.01982	-1.1235	10	0.87932	D	0	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	359;431	Q86UY0;Q8NBS9	.;TXND5_HUMAN	K	359;431;323	ENSP00000442453:E359K;ENSP00000369081:E431K;ENSP00000420784:E323K	ENSP00000442453:E359K	E	-	1	0	TXNDC5	7828384	1.000000	0.71417	0.110000	0.21437	0.083000	0.17756	6.631000	0.74277	2.735000	0.93741	0.655000	0.94253	GAA		0.557	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810	
RBM24	221662	broad.mit.edu	37	6	17292141	17292141	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17292141G>A	ENST00000379052.5	+	4	738	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.A123T|RBM24_ENST00000425446.2_Missense_Mutation_p.A110T	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	168	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.A123T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			tgctgctgccgccgccgctgc	0.597																																					p.A123T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	6						.						19.0	26.0	24.0					6																	17292141		2145	4161	6306	17400120	SO:0001583	missense	221662	exon3			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.502G>A	6.37:g.17292141G>A	ENSP00000368341:p.Ala168Thr		17400120	NM_153020	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474843	0.43942	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.30714	1.52;1.52;1.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.01819	-1.1267	10	0.19590	T	0.45	-23.1528	19.8414	0.96690	0.0:0.0:1.0:0.0	.	123;168	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	T	168;110;123	ENSP00000368341:A168T;ENSP00000396898:A110T;ENSP00000319551:A123T	ENSP00000319551:A123T	A	+	1	0	RBM24	17400120	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	7.529000	0.81952	2.695000	0.91970	0.591000	0.81541	GCC		0.597	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020	
CAP2	10486	broad.mit.edu	37	6	17539541	17539541	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17539541C>A	ENST00000229922.2	+	8	1210	c.678C>A	c.(676-678)tcC>tcA	p.S226S	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Silent_p.S114S|CAP2_ENST00000465994.1_Silent_p.S162S|CAP2_ENST00000378990.2_Silent_p.S200S	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	226					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.S226S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CTGTCCTCTCCTCTGGGCCTG	0.542																																					p.S226S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678A	6						.						249.0	210.0	223.0					6																	17539541		2203	4300	6503	17647520	SO:0001819	synonymous_variant	10486	exon8			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.678C>A	6.37:g.17539541C>A			17647520	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																				0.542	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		
CAP2	10486	broad.mit.edu	37	6	17541337	17541337	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17541337A>G	ENST00000229922.2	+	9	1492	c.960A>G	c.(958-960)aaA>aaG	p.K320K	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Silent_p.K208K|CAP2_ENST00000465994.1_Silent_p.K256K|CAP2_ENST00000378990.2_Silent_p.K294K	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	320	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.K320K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CTTCTCAAAAACATGCCCCAG	0.453																																					p.K320K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A960G	6						.						135.0	118.0	124.0					6																	17541337		2203	4300	6503	17649316	SO:0001819	synonymous_variant	10486	exon9			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.960A>G	6.37:g.17541337A>G			17649316	NM_006366	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	CCDS4539.1																																																																																				0.453	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		
NUP153	9972	broad.mit.edu	37	6	17637604	17637604	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17637604C>T	ENST00000262077.2	-	16	2243	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	NUP153_ENST00000537253.1_Silent_p.P779P	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	748					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.P748P(2)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTCCAGGTTTCGGTGTTTCAC	0.433																																					p.P748P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2244A	6						.						183.0	180.0	181.0					6																	17637604		2203	4300	6503	17745583	SO:0001819	synonymous_variant	9972	exon16			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2244G>A	6.37:g.17637604C>T			17745583	NM_005124	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	CCDS4541.1																																																																																				0.433	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1		
KIF13A	63971	broad.mit.edu	37	6	17765136	17765136	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17765136C>A	ENST00000259711.6	-	39	4728	c.4623G>T	c.(4621-4623)agG>agT	p.R1541S	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1506S|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1493S|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1493S|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1506S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1541					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1541S(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTAGCTTCCTGTTAATAG	0.423																																					p.R1541S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4623T	6						.						49.0	47.0	48.0					6																	17765136		1879	4113	5992	17873115	SO:0001583	missense	63971	exon39			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4623G>T	6.37:g.17765136C>A	ENSP00000259711:p.Arg1541Ser		17873115	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471739	0.26423	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.74106	-0.79;1.69;-0.74;-0.81;-0.79;-0.81	5.92	2.78	0.32641	.	0.552272	0.18280	N	0.146053	T	0.30572	0.0769	N	0.14661	0.345	0.25913	N	0.983203	B;B;B;B	0.13145	0.0;0.0;0.007;0.0	B;B;B;B	0.13407	0.002;0.001;0.009;0.001	T	0.21449	-1.0245	10	0.09084	T	0.74	.	10.6119	0.45427	0.0:0.7145:0.0:0.2855	.	1493;1506;1541;1493	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	S	1493;545;1541;1506;1493;1506	ENSP00000368091:R1493S;ENSP00000425616:R545S;ENSP00000259711:R1541S;ENSP00000368103:R1506S;ENSP00000368120:R1493S;ENSP00000368093:R1506S	ENSP00000259711:R1541S	R	-	3	2	KIF13A	17873115	1.000000	0.71417	0.976000	0.42696	0.572000	0.35998	2.205000	0.42770	0.856000	0.35383	0.585000	0.79938	AGG		0.423	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KIF13A	63971	broad.mit.edu	37	6	17779201	17779201	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17779201G>T	ENST00000259711.6	-	33	4174	c.4069C>A	c.(4069-4071)Ctg>Atg	p.L1357M	KIF13A_ENST00000378816.5_Missense_Mutation_p.L1357M|KIF13A_ENST00000378814.5_Missense_Mutation_p.L1344M|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1344M|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1357M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1357					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1357M(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAAGACTCAGAATGTTTTCC	0.512																																					p.L1357M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4069A	6						.						97.0	95.0	96.0					6																	17779201		2122	4244	6366	17887180	SO:0001583	missense	63971	exon33			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4069C>A	6.37:g.17779201G>T	ENSP00000259711:p.Leu1357Met		17887180	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.694217|3.694217	0.68386|0.68386	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|D;T;D;D;D;D	.|0.82081	.|-1.53;0.75;-1.57;-1.52;-1.53;-1.52	5.36|5.36	3.54|3.54	0.40534|0.40534	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88459|0.88459	0.6442|0.6442	M|M	0.82823|0.82823	2.61|2.61	0.52501|0.52501	D|D	0.999953|0.999953	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;1.0;0.999	D|D	0.89880|0.89880	0.4029|0.4029	5|10	.|0.87932	.|D	.|0	.|.	11.2789|11.2789	0.49181|0.49181	0.2421:0.0:0.7579:0.0|0.2421:0.0:0.7579:0.0	.|.	.|1344;1357;1357;1344	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|M	750|1344;361;1357;1357;1344;1357	.|ENSP00000368091:L1344M;ENSP00000425616:L361M;ENSP00000259711:L1357M;ENSP00000368103:L1357M;ENSP00000368120:L1344M;ENSP00000368093:L1357M	.|ENSP00000259711:L1357M	F|L	-|-	3|1	2|2	KIF13A|KIF13A	17887180|17887180	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	2.116000|2.116000	0.41930|0.41930	1.391000|1.391000	0.46566|0.46566	0.561000|0.561000	0.74099|0.74099	TTC|CTG		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KIF13A	63971	broad.mit.edu	37	6	17856348	17856348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:17856348C>A	ENST00000259711.6	-	5	331	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E76*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E76*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAAACCACTTCTTGACCTAAA	0.303																																					p.E76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G226T	6						.						53.0	49.0	50.0					6																	17856348		1792	4061	5853	17964327	SO:0001587	stop_gained	63971	exon5			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.226G>T	6.37:g.17856348C>A	ENSP00000259711:p.Glu76*		17964327	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372496	0.82573	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.87	5.87	0.94306	.	0.051954	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	.	.	.	X	76	.	ENSP00000259711:E76X	E	-	1	0	KIF13A	17964327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.620000	0.67736	2.941000	0.99782	0.655000	0.94253	GAA		0.303	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
NHLRC1	378884	broad.mit.edu	37	6	18122594	18122594	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:18122594C>T	ENST00000340650.3	-	1	257	c.244G>A	c.(244-246)Gac>Aac	p.D82N		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	82					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D82N(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCAGGCAGTCGCTGGTGTCG	0.746																																					p.D82N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	6						.						5.0	7.0	6.0					6																	18122594		2044	3988	6032	18230573	SO:0001583	missense	378884	exon1			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.244G>A	6.37:g.18122594C>T	ENSP00000345464:p.Asp82Asn		18230573	NM_198586	Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067166	0.36470	.	.	ENSG00000187566	ENST00000340650	D	0.93712	-3.27	5.23	4.35	0.52113	.	0.251598	0.39687	N	0.001281	D	0.82967	0.5152	L	0.51422	1.61	0.30047	N	0.812138	D	0.53151	0.958	B	0.40864	0.342	T	0.76413	-0.2968	10	0.29301	T	0.29	-23.1509	8.3937	0.32544	0.1558:0.7661:0.0:0.0781	.	82	Q6VVB1	NHLC1_HUMAN	N	82	ENSP00000345464:D82N	ENSP00000345464:D82N	D	-	1	0	NHLRC1	18230573	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	3.904000	0.56325	1.163000	0.42636	-0.181000	0.13052	GAC		0.746	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1		
TPMT	7172	broad.mit.edu	37	6	18139903	18139903	+	Missense_Mutation	SNP	G	G	T	rs372997906		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:18139903G>T	ENST00000309983.4	-	5	497	c.412C>A	c.(412-414)Ctt>Att	p.L138I		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	138					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)	p.L138I(1)		large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	TACCTGGGAAGATCAAAAATA	0.363																																					p.L138I	Colon(190;1381 2791 16728 32493)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412A	6						.						69.0	72.0	71.0					6																	18139903		2203	4300	6503	18247882	SO:0001583	missense	7172	exon5				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.412C>A	6.37:g.18139903G>T	ENSP00000312304:p.Leu138Ile		18247882	NM_000367	O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	ENST00000309983.4	37	CCDS4543.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196938	0.58126	.	.	ENSG00000137364	ENST00000309983	T	0.75704	-0.96	5.21	2.43	0.29744	.	0.211536	0.47455	D	0.000230	T	0.72526	0.3471	M	0.83852	2.665	0.35742	D	0.818766	B;B	0.24483	0.104;0.018	P;B	0.47864	0.559;0.196	T	0.71361	-0.4616	10	0.48119	T	0.1	-10.3876	3.3494	0.07147	0.3103:0.0:0.5146:0.1751	.	138;138	Q9BS45;P51580	.;TPMT_HUMAN	I	138	ENSP00000312304:L138I	ENSP00000312304:L138I	L	-	1	0	TPMT	18247882	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	1.342000	0.33919	0.577000	0.29470	-0.347000	0.07816	CTT		0.363	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039960.1		
CDKAL1	54901	broad.mit.edu	37	6	20955687	20955687	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:20955687G>A	ENST00000378610.1	+	8	790	c.780G>A	c.(778-780)acG>acA	p.T260T	CDKAL1_ENST00000378624.4_Silent_p.T190T|CDKAL1_ENST00000274695.4_Silent_p.T260T			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	260					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)	p.T260T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTGAAGACACGGGGGCTTATG	0.468																																					p.T260T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	6						.						139.0	134.0	135.0					6																	20955687		2203	4300	6503	21063666	SO:0001819	synonymous_variant	54901	exon10			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.780G>A	6.37:g.20955687G>A			21063666	NM_017774	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Silent	SNP	ENST00000378610.1	37	CCDS4546.1																																																																																				0.468	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	NM_017774	
PRL	5617	broad.mit.edu	37	6	22294709	22294709	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:22294709C>A	ENST00000306482.1	-	2	651	c.133G>T	c.(133-135)Gac>Tac	p.D45Y	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	45					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.D45Y(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TCAAACAGGTCTCGAAGGGTC	0.602																																					p.D45Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133T	6						.						77.0	70.0	72.0					6																	22294709		2203	4300	6503	22402688	SO:0001583	missense	5617	exon2			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.133G>T	6.37:g.22294709C>A	ENSP00000302150:p.Asp45Tyr		22402688	NM_000948	Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603159	0.66445	.	.	ENSG00000172179	ENST00000306482	D	0.90563	-2.69	5.85	5.85	0.93711	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.278761	0.44483	D	0.000443	D	0.94716	0.8295	M	0.72479	2.2	0.53688	D	0.999977	B;D	0.71674	0.382;0.998	B;D	0.75020	0.345;0.985	D	0.94486	0.7697	10	0.87932	D	0	-3.7208	20.1542	0.98100	0.0:1.0:0.0:0.0	.	45;46	P01236;Q5I0G2	PRL_HUMAN;.	Y	45	ENSP00000302150:D45Y	ENSP00000302150:D45Y	D	-	1	0	PRL	22402688	0.981000	0.34729	0.918000	0.36340	0.766000	0.43426	3.787000	0.55439	2.767000	0.95098	0.563000	0.77884	GAC		0.602	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948	
NRSN1	140767	broad.mit.edu	37	6	24134677	24134677	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24134677T>G	ENST00000378491.4	+	3	423	c.122T>G	c.(121-123)aTt>aGt	p.I41S	NRSN1_ENST00000378478.1_Missense_Mutation_p.I41S|NRSN1_ENST00000378475.1_Missense_Mutation_p.I41S	NM_080723.4	NP_542454.3			neurensin 1									p.I41S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGCCTCAATTTGGGAGTAT	0.502																																					p.I41S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T122G	6						.						132.0	116.0	121.0					6																	24134677		2203	4300	6503	24242656	SO:0001583	missense	140767	exon3			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.122T>G	6.37:g.24134677T>G	ENSP00000367752:p.Ile41Ser		24242656	NM_080723		Missense_Mutation	SNP	ENST00000378491.4	37	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424551	0.83667	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.20738	2.05;2.05;2.05	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.26395	-1.0104	10	0.87932	D	0	-11.3363	16.0421	0.80691	0.0:0.0:0.0:1.0	.	41	Q8IZ57	NRSN1_HUMAN	S	41	ENSP00000367752:I41S;ENSP00000367739:I41S;ENSP00000367736:I41S	ENSP00000367736:I41S	I	+	2	0	NRSN1	24242656	1.000000	0.71417	0.995000	0.50966	0.851000	0.48451	7.671000	0.83941	2.192000	0.70111	0.533000	0.62120	ATT		0.502	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723	
DCDC2	51473	broad.mit.edu	37	6	24353827	24353827	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24353827C>A	ENST00000378454.3	-	2	619	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	106					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)			p.K106N(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTGGTCTTTTCTTGATTTCTC	0.274																																					p.K106N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G318T	6						.						89.0	88.0	89.0					6																	24353827		2201	4298	6499	24461806	SO:0001583	missense	51473	exon3			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.318G>T	6.37:g.24353827C>A	ENSP00000367715:p.Lys106Asn		24461806	NM_001195610	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	CCDS4550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.862273|3.862273	0.71949|0.71949	.|.	.|.	ENSG00000146038|ENSG00000146038	ENST00000378454;ENST00000451359|ENST00000436313	D|.	0.86769|.	-2.17|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Doublecortin domain (2);|.	0.157620|.	0.56097|.	D|.	0.000039|.	T|T	0.60077|0.60077	0.2241|0.2241	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.50272|.	0.933|.	P|.	0.46479|.	0.518|.	T|T	0.57207|0.57207	-0.7851|-0.7851	10|5	0.20519|.	T|.	0.43|.	-0.0567|-0.0567	17.797|17.797	0.88575|0.88575	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q9UHG0|.	DCDC2_HUMAN|.	N|I	106|74	ENSP00000367715:K106N|.	ENSP00000367715:K106N|.	K|R	-|-	3|2	2|0	DCDC2|DCDC2	24461806|24461806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.930000|2.930000	0.48924|0.48924	2.591000|2.591000	0.87537|0.87537	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.274	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	NM_016356	
MRS2	57380	broad.mit.edu	37	6	24423172	24423172	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24423172G>T	ENST00000378386.3	+	10	1208	c.1115G>T	c.(1114-1116)aGa>aTa	p.R372I	MRS2_ENST00000443868.2_Missense_Mutation_p.R375I|MRS2_ENST00000378353.1_Missense_Mutation_p.R372I|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.R322I|MRS2_ENST00000543597.1_Missense_Mutation_p.R81I	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	372						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R372K(1)|p.R372I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TAGGACCATAGAATTTTTTGG	0.443																																					p.R372I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1115T	6						.						147.0	138.0	141.0					6																	24423172		2203	4300	6503	24531151	SO:0001583	missense	57380	exon10			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1115G>T	6.37:g.24423172G>T	ENSP00000367637:p.Arg372Ile		24531151	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705547	0.30232	.	.	ENSG00000124532	ENST00000543597;ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T;T	0.46063	0.88;1.53;1.5;0.93;1.5	6.15	6.15	0.99193	.	0.105135	0.64402	D	0.000007	T	0.18882	0.0453	L	0.32530	0.975	0.40091	D	0.976257	B;P;B;B	0.35527	0.32;0.507;0.366;0.083	B;B;B;B	0.34093	0.121;0.175;0.08;0.047	T	0.03534	-1.1027	10	0.22706	T	0.39	-24.363	13.9607	0.64177	0.0687:0.0:0.9313:0.0	.	322;375;372;372	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	I	81;322;372;372;375	ENSP00000438118:R81I;ENSP00000441839:R322I;ENSP00000367637:R372I;ENSP00000367604:R372I;ENSP00000399585:R375I	ENSP00000367604:R372I	R	+	2	0	MRS2	24531151	0.998000	0.40836	0.085000	0.20634	0.373000	0.29922	7.853000	0.86934	2.932000	0.99384	0.643000	0.83706	AGA		0.443	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1		
GPLD1	2822	broad.mit.edu	37	6	24446036	24446036	+	Missense_Mutation	SNP	C	C	T	rs566324510		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24446036C>T	ENST00000230036.1	-	19	1954	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	615					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.R615Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTTCTCATCTCGGATGTGTAA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20460	0.0		0.001	False		,,,				2504	0.0				p.R615Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1844A	6						.						105.0	103.0	103.0					6																	24446036		2203	4300	6503	24554015	SO:0001583	missense	2822	exon19			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1844G>A	6.37:g.24446036C>T	ENSP00000230036:p.Arg615Gln		24554015	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221119	0.39201	.	.	ENSG00000112293	ENST00000230036	T	0.64803	-0.12	5.49	-2.38	0.06622	.	1.427420	0.04182	N	0.326777	T	0.21103	0.0508	N	0.20685	0.6	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.14476	-1.0471	10	0.10902	T	0.67	5.0E-4	12.3407	0.55093	0.0:0.2967:0.0:0.7033	.	615	P80108	PHLD_HUMAN	Q	615	ENSP00000230036:R615Q	ENSP00000230036:R615Q	R	-	2	0	GPLD1	24554015	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.364000	0.02590	-0.573000	0.05998	0.655000	0.94253	CGA		0.532	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
GPLD1	2822	broad.mit.edu	37	6	24456737	24456737	+	Silent	SNP	C	C	T	rs1139464		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24456737C>T	ENST00000230036.1	-	13	1247	c.1137G>A	c.(1135-1137)gcG>gcA	p.A379A		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	379					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.A379A(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AGCCAAGCCTCGCATAAGGAA	0.358																																					p.A379A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1137A	6						.						142.0	132.0	135.0					6																	24456737		2203	4300	6503	24564716	SO:0001819	synonymous_variant	2822	exon13			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1137G>A	6.37:g.24456737C>T			24564716	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	CCDS4553.1																																																																																				0.358	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
KIAA0319	9856	broad.mit.edu	37	6	24547397	24547397	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24547397C>A	ENST00000378214.3	-	21	3739	c.3215G>T	c.(3214-3216)aGa>aTa	p.R1072I	KIAA0319_ENST00000535378.1_Missense_Mutation_p.R1063I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R1072I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R1011I|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R1027I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1072					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1072I(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCGCCATTATCTGTCCTTTGA	0.433																																					p.R1011I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3032T	6						.						195.0	182.0	186.0					6																	24547397		2203	4300	6503	24655376	SO:0001583	missense	9856	exon19			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3215G>T	6.37:g.24547397C>A	ENSP00000367459:p.Arg1072Ile		24655376	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977635	0.74360	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19532	2.14;2.77;2.79;2.76;2.76	4.76	3.88	0.44766	.	0.084025	0.47852	D	0.000218	T	0.29588	0.0738	L	0.53249	1.67	0.50813	D	0.999899	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.994	T	0.08229	-1.0732	10	0.87932	D	0	.	12.7607	0.57363	0.0:0.9209:0.0:0.0791	.	1011;1063;1072	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	I	1011;1063;1027;1072;1072	ENSP00000439700:R1011I;ENSP00000442403:R1063I;ENSP00000401086:R1027I;ENSP00000367459:R1072I;ENSP00000437656:R1072I	ENSP00000367459:R1072I	R	-	2	0	KIAA0319	24655376	1.000000	0.71417	0.952000	0.39060	0.920000	0.55202	5.105000	0.64591	1.204000	0.43247	0.655000	0.94253	AGA		0.433	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
C6orf62	81688	broad.mit.edu	37	6	24716477	24716477	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24716477T>C	ENST00000378119.4	-	2	2372	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	C6orf62_ENST00000378102.3_Missense_Mutation_p.K40E|C6orf62_ENST00000540769.1_Missense_Mutation_p.K11E	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	69						intracellular (GO:0005622)		p.K69E(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CGCACACCTTTCAGGATATTT	0.383																																					p.K69E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A205G	6						.						83.0	84.0	83.0					6																	24716477		2203	4300	6503	24824456	SO:0001583	missense	81688	exon2			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.205A>G	6.37:g.24716477T>C	ENSP00000367359:p.Lys69Glu		24824456	NM_030939	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739868	0.49045	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.35236	1.32;1.32;1.32	5.83	5.83	0.93111	.	0.100488	0.64402	D	0.000002	T	0.11793	0.0287	N	0.12182	0.205	0.42996	D	0.994502	B	0.33612	0.419	B	0.31614	0.133	T	0.09185	-1.0686	10	0.28530	T	0.3	-2.3629	16.192	0.81996	0.0:0.0:0.0:1.0	.	69	Q9GZU0	CF062_HUMAN	E	69;11;40	ENSP00000367359:K69E;ENSP00000446225:K11E;ENSP00000367342:K40E	ENSP00000367342:K40E	K	-	1	0	C6orf62	24824456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.848000	0.55903	2.229000	0.72834	0.482000	0.46254	AAA		0.383	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939	
FAM65B	9750	broad.mit.edu	37	6	24873987	24873987	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:24873987G>A	ENST00000259698.4	-	3	317	c.142C>T	c.(142-144)Cct>Tct	p.P48S	FAM65B_ENST00000540914.1_Missense_Mutation_p.P48S|FAM65B_ENST00000510784.2_Missense_Mutation_p.P82S|FAM65B_ENST00000538035.1_Missense_Mutation_p.P77S|FAM65B_ENST00000378023.4_Missense_Mutation_p.P48S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	48					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.P48S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGGCCTGAGGCTTCTTGAGA	0.438																																					p.P48S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C142T	6						.						108.0	95.0	99.0					6																	24873987		1831	4092	5923	24981966	SO:0001583	missense	9750	exon3			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.142C>T	6.37:g.24873987G>A	ENSP00000259698:p.Pro48Ser		24981966	NM_015864	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155372	0.78114	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59	5.53	4.61	0.57282	.	0.050046	0.85682	D	0.000000	T	0.04048	0.0113	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71656	0.929;0.974;0.929;0.962	T	0.61187	-0.7113	10	0.30854	T	0.27	-18.32	15.1785	0.72934	0.0:0.0:0.8585:0.1415	.	82;77;48;48	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	S	48;77;48;48;82	ENSP00000259698:P48S;ENSP00000441138:P77S;ENSP00000367262:P48S;ENSP00000438425:P48S;ENSP00000441305:P82S	ENSP00000259698:P48S	P	-	1	0	FAM65B	24981966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.316000	0.72857	2.605000	0.88082	0.655000	0.94253	CCT		0.438	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		
HIST1H2AA	221613	broad.mit.edu	37	6	25726541	25726541	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25726541C>T	ENST00000297012.3	-	1	249	c.215G>A	c.(214-216)cGc>cAc	p.R72H	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	72						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R72H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTGTTATCGCGAGACGCATT	0.527																																					p.R72H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	6						.						286.0	230.0	249.0					6																	25726541		2203	4300	6503	25834520	SO:0001583	missense	221613	exon1			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.215G>A	6.37:g.25726541C>T	ENSP00000297012:p.Arg72His		25834520	NM_170745		Missense_Mutation	SNP	ENST00000297012.3	37	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288585	0.23478	.	.	ENSG00000164508	ENST00000297012	T	0.69306	-0.39	3.55	0.791	0.18619	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.49305	D	0.000152	T	0.46795	0.1411	M	0.84082	2.675	0.25952	N	0.982731	B	0.02656	0.0	B	0.04013	0.001	T	0.53479	-0.8433	10	0.72032	D	0.01	.	7.3667	0.26776	0.0:0.6861:0.0:0.3139	.	72	Q96QV6	H2A1A_HUMAN	H	72	ENSP00000297012:R72H	ENSP00000297012:R72H	R	-	2	0	HIST1H2AA	25834520	0.424000	0.25490	0.001000	0.08648	0.001000	0.01503	1.862000	0.39448	0.155000	0.19261	0.650000	0.86243	CGC		0.527	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745	
HIST1H2BA	255626	broad.mit.edu	37	6	25727399	25727399	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25727399G>A	ENST00000274764.2	+	1	263	c.263G>A	c.(262-264)cGc>cAc	p.R88H	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	88					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R88H(1)		breast(1)|kidney(1)	2						TACAGCAAGCGCTCCACCATT	0.512																																					p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	6						.						348.0	258.0	289.0					6																	25727399		2203	4300	6503	25835378	SO:0001583	missense	255626	exon1			AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.263G>A	6.37:g.25727399G>A	ENSP00000274764:p.Arg88His		25835378	NM_170610	B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124308	0.20959	.	.	ENSG00000146047	ENST00000274764	T	0.77358	-1.09	3.32	0.44	0.16572	Histone-fold (2);Histone core (1);	0.162877	0.38605	N	0.001624	T	0.78848	0.4348	M	0.88181	2.935	0.45528	D	0.998487	D	0.76494	0.999	P	0.59221	0.854	T	0.76277	-0.3018	10	0.49607	T	0.09	.	5.2561	0.15548	0.1916:0.0:0.6456:0.1628	.	88	Q96A08	H2B1A_HUMAN	H	88	ENSP00000274764:R88H	ENSP00000274764:R88H	R	+	2	0	HIST1H2BA	25835378	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	4.368000	0.59505	0.068000	0.16574	0.644000	0.83932	CGC		0.512	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
SLC17A1	6568	broad.mit.edu	37	6	25801200	25801200	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25801200C>A	ENST00000244527.4	-	11	1302	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	SLC17A1_ENST00000468082.1_Missense_Mutation_p.G342V|SLC17A1_ENST00000476801.1_Missense_Mutation_p.G396V|SLC17A1_ENST00000427328.1_Missense_Mutation_p.G342V	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	396					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.G396V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TTTAATAAATCCAAAATATCT	0.313																																					p.G396V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187T	6						.						78.0	78.0	78.0					6																	25801200		2203	4295	6498	25909179	SO:0001583	missense	6568	exon11				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1187G>T	6.37:g.25801200C>A	ENSP00000244527:p.Gly396Val		25909179	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164752	0.38217	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.70749	-0.51;-0.26;-0.51;-0.26	3.67	0.845	0.18950	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.576183	0.14720	N	0.302389	T	0.60663	0.2286	M	0.79693	2.465	0.54753	D	0.999986	B;P	0.43477	0.441;0.808	B;P	0.44811	0.331;0.461	T	0.62562	-0.6828	10	0.72032	D	0.01	.	6.7926	0.23707	0.1906:0.4388:0.3706:0.0	.	342;396	Q14916-2;Q14916	.;NPT1_HUMAN	V	396;342;396;342	ENSP00000244527:G396V;ENSP00000410549:G342V;ENSP00000420614:G396V;ENSP00000420546:G342V	ENSP00000244527:G396V	G	-	2	0	SLC17A1	25909179	0.465000	0.25815	0.716000	0.30569	0.167000	0.22549	0.819000	0.27308	0.161000	0.19458	0.655000	0.94253	GGA		0.313	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
SLC17A1	6568	broad.mit.edu	37	6	25826804	25826804	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25826804A>G	ENST00000244527.4	-	3	207	c.92T>C	c.(91-93)gTt>gCt	p.V31A	SLC17A1_ENST00000468082.1_Missense_Mutation_p.V31A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.V31A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.V31A	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	31					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.V31A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTATTATAACATTACAACA	0.448																																					p.V31A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T92C	6						.						137.0	114.0	122.0					6																	25826804		2203	4300	6503	25934783	SO:0001583	missense	6568	exon3				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.92T>C	6.37:g.25826804A>G	ENSP00000244527:p.Val31Ala		25934783	NM_005074	A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Missense_Mutation	SNP	ENST00000244527.4	37	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641837	0.29157	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	3.29	2.1	0.27182	Major facilitator superfamily domain, general substrate transporter (1);	1.493010	0.04814	N	0.435798	T	0.19604	0.0471	N	0.21583	0.68	0.09310	N	1	P;P	0.36183	0.486;0.542	B;B	0.42462	0.185;0.388	T	0.25950	-1.0117	10	0.09590	T	0.72	.	6.6532	0.22973	0.7554:0.2446:0.0:0.0	.	31;31	Q14916-2;Q14916	.;NPT1_HUMAN	A	31	ENSP00000244527:V31A;ENSP00000410549:V31A;ENSP00000420614:V31A;ENSP00000420546:V31A	ENSP00000244527:V31A	V	-	2	0	SLC17A1	25934783	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	0.714000	0.25808	0.626000	0.30322	0.533000	0.62120	GTT		0.448	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		
SLC17A2	10246	broad.mit.edu	37	6	25916003	25916003	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25916003G>T	ENST00000265425.3	-	8	1044	c.1024C>A	c.(1024-1026)Ctc>Atc	p.L342I	SLC17A2_ENST00000377850.3_Missense_Mutation_p.L342I|SLC17A2_ENST00000360488.3_Missense_Mutation_p.L342I			O00624	NPT3_HUMAN	solute carrier family 17, member 2	342					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.L342I(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ATCAATCTGAGAAGATTCCTG	0.468																																					p.L342I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1024A	6						.						78.0	77.0	77.0					6																	25916003		2203	4300	6503	26023982	SO:0001583	missense	10246	exon9			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.1024C>A	6.37:g.25916003G>T	ENSP00000265425:p.Leu342Ile		26023982	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	G	23.8	4.457516	0.84317	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.60797	0.16;0.16;0.16	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.47852	D	0.000208	T	0.56187	0.1968	L	0.48986	1.54	0.37970	D	0.933267	D;D;P	0.60575	0.967;0.988;0.86	P;P;P	0.58391	0.838;0.838;0.614	T	0.52503	-0.8567	10	0.32370	T	0.25	.	13.9025	0.63815	0.0:0.0:1.0:0.0	.	342;342;342	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	I	342	ENSP00000353677:L342I;ENSP00000367081:L342I;ENSP00000265425:L342I	ENSP00000265425:L342I	L	-	1	0	SLC17A2	26023982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.884000	0.48562	2.730000	0.93505	0.650000	0.86243	CTC		0.468	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
SLC17A2	10246	broad.mit.edu	37	6	25916985	25916985	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:25916985G>T	ENST00000265425.3	-	7	878	c.858C>A	c.(856-858)ttC>ttA	p.F286L	SLC17A2_ENST00000377850.3_Missense_Mutation_p.F286L|SLC17A2_ENST00000360488.3_Missense_Mutation_p.F286L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	286					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.F286L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGCACAACCAGAAATGGCTGA	0.448																																					p.F286L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C858A	6						.						124.0	111.0	115.0					6																	25916985		2203	4300	6503	26024964	SO:0001583	missense	10246	exon8			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.858C>A	6.37:g.25916985G>T	ENSP00000265425:p.Phe286Leu		26024964	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	G	13.44	2.237841	0.39598	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.59638	0.25;0.25;0.25	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000019	T	0.27832	0.0685	N	0.25201	0.72	0.43708	D	0.99617	B;B;B	0.22414	0.011;0.011;0.069	B;B;B	0.25614	0.034;0.034;0.062	T	0.08371	-1.0725	10	0.23891	T	0.37	.	13.2415	0.59999	0.0:0.0:1.0:0.0	.	286;286;286	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	L	286	ENSP00000353677:F286L;ENSP00000367081:F286L;ENSP00000265425:F286L	ENSP00000265425:F286L	F	-	3	2	SLC17A2	26024964	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.897000	0.63231	2.557000	0.86248	0.563000	0.77884	TTC		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
HIST1H4A	8359	broad.mit.edu	37	6	26022088	26022088	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26022088T>C	ENST00000359907.3	+	1	182	c.182T>C	c.(181-183)gTg>gCg	p.V61A		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	61					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V61A(1)		large_intestine(1)|skin(1)	2						GTGCTCAAGGTGTTTTTGGAG	0.617																																					p.V61A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T182C	6						.						119.0	111.0	114.0					6																	26022088		2203	4300	6503	26130067	SO:0001583	missense	8359	exon1			X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.182T>C	6.37:g.26022088T>C	ENSP00000352980:p.Val61Ala		26130067	NM_003538	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	t	16.28	3.078011	0.55753	.	.	ENSG00000196176	ENST00000359907	T	0.64260	-0.09	4.09	4.09	0.47781	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.43564	D	0.995884	.	.	.	.	.	.	T	0.59637	-0.7417	5	.	.	.	.	12.9803	0.58559	0.0:0.0:0.0:1.0	.	.	.	.	A	61	ENSP00000352980:V61A	.	V	+	2	0	HIST1H4A	26130067	1.000000	0.71417	0.997000	0.53966	0.352000	0.29268	6.016000	0.70798	1.783000	0.52377	0.533000	0.62120	GTG		0.617	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538	
HIST1H2BB	3018	broad.mit.edu	37	6	26043521	26043521	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26043521T>C	ENST00000357905.2	-	1	364	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	122					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y122C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGAGCTAGTGTACTTGGTAAC	0.502																																					p.Y122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A365G	6						.						30.0	30.0	30.0					6																	26043521		2203	4300	6503	26151500	SO:0001583	missense	3018	exon1			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.365A>G	6.37:g.26043521T>C	ENSP00000350580:p.Tyr122Cys		26151500	NM_021062	Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	t	9.719	1.159263	0.21454	.	.	ENSG00000196226	ENST00000357905	T	0.43294	0.95	5.08	5.08	0.68730	Histone-fold (2);	0.000000	0.53938	U	0.000052	T	0.46171	0.1379	H	0.95114	3.625	0.47994	D	0.999569	B	0.11235	0.004	B	0.11329	0.006	T	0.59941	-0.7359	10	0.66056	D	0.02	.	14.3169	0.66457	0.0:0.0:0.0:1.0	.	122	P33778	H2B1B_HUMAN	C	122	ENSP00000350580:Y122C	ENSP00000350580:Y122C	Y	-	2	0	HIST1H2BB	26151500	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	8.036000	0.88901	2.020000	0.59435	0.383000	0.25322	TAC		0.502	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062	
BTN3A2	11118	broad.mit.edu	37	6	26370573	26370573	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26370573G>A	ENST00000356386.2	+	5	645	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BTN3A2_ENST00000396948.1_Missense_Mutation_p.E153K|BTN3A2_ENST00000527422.1_Missense_Mutation_p.E153K|BTN3A2_ENST00000508906.2_Missense_Mutation_p.E111K|BTN3A2_ENST00000377708.2_Missense_Mutation_p.E153K|BTN3A2_ENST00000396934.3_Missense_Mutation_p.E130K|BTN3A2_ENST00000532994.1_3'UTR	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	153					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E153K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCTTCACGTCGAAGTGAAGGG	0.512																																					p.E111K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	6						.						97.0	87.0	91.0					6																	26370573		2203	4300	6503	26478552	SO:0001583	missense	11118	exon4			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.457G>A	6.37:g.26370573G>A	ENSP00000348751:p.Glu153Lys		26478552	NM_001197249	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.349604	0.41599	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T;T	0.13657	2.57;3.37;4.02;4.02;3.88;4.02;4.02;4.43	2.84	-5.69	0.02428	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04952	0.0133	M	0.67700	2.07	0.09310	N	1	D;P	0.56035	0.974;0.923	P;B	0.44696	0.458;0.207	T	0.03249	-1.1056	9	0.37606	T	0.19	.	4.5092	0.11903	0.1229:0.5794:0.1682:0.1295	.	130;153	F8W6E0;P78410	.;BT3A2_HUMAN	K	111;111;153;153;153;130;153;153;111	ENSP00000435952:E111K;ENSP00000434102:E111K;ENSP00000432138:E153K;ENSP00000348751:E153K;ENSP00000380140:E130K;ENSP00000366937:E153K;ENSP00000380152:E153K;ENSP00000442687:E111K	ENSP00000348751:E153K	E	+	1	0	BTN3A2	26478552	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.941000	0.01542	-1.394000	0.02077	0.405000	0.27470	GAA		0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2		
BTN3A3	10384	broad.mit.edu	37	6	26444502	26444502	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26444502G>A	ENST00000244519.2	+	4	646	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	BTN3A3_ENST00000339789.4_Missense_Mutation_p.E93K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.E93K	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	135	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E135K(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGACTTCTACGAAAAAGCCCT	0.502																																					p.E135K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	6						.						133.0	131.0	131.0					6																	26444502		2203	4300	6503	26552481	SO:0001583	missense	10384	exon4			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.403G>A	6.37:g.26444502G>A	ENSP00000244519:p.Glu135Lys		26552481	NM_006994	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135639	0.77662	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.06933	3.24;4.22;4.22;4.22;4.22;4.22;4.22;4.22;4.22;4.22	2.5	1.58	0.23477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04497	0.0123	L	0.59967	1.855	0.09310	N	1	P;D	0.55172	0.931;0.97	B;P	0.45506	0.307;0.483	T	0.31833	-0.9929	9	0.44086	T	0.13	.	9.0583	0.36419	0.0:0.2292:0.7708:0.0	.	93;135	E9PCP5;O00478	.;BT3A3_HUMAN	K	135;117;135;93;93;93;93;135;93;93;93	ENSP00000417234:E135K;ENSP00000419312:E117K;ENSP00000244519:E135K;ENSP00000344968:E93K;ENSP00000417717:E93K;ENSP00000355238:E93K;ENSP00000420339:E93K;ENSP00000420147:E135K;ENSP00000419736:E93K;ENSP00000419445:E93K	ENSP00000244519:E135K	E	+	1	0	BTN3A3	26552481	0.000000	0.05858	0.001000	0.08648	0.930000	0.56654	0.132000	0.15891	0.570000	0.29347	0.555000	0.69702	GAA		0.502	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
BTN1A1	696	broad.mit.edu	37	6	26502086	26502086	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26502086C>A	ENST00000244513.6	+	2	414	c.348C>A	c.(346-348)gtC>gtA	p.V116V		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	116	Ig-like V-type 1.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.V116V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCGTCAGAGTCTCTGACGACG	0.622																																					p.V116V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348A	6						.						39.0	41.0	40.0					6																	26502086		2201	4295	6496	26610065	SO:0001819	synonymous_variant	696	exon2			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.348C>A	6.37:g.26502086C>A			26610065	NM_001732	Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	CCDS4614.1																																																																																				0.622	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
ABT1	29777	broad.mit.edu	37	6	26598209	26598209	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26598209G>T	ENST00000274849.1	+	2	340	c.309G>T	c.(307-309)aaG>aaT	p.K103N		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	103	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.K103N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CCTACACCAAGGACTACACCG	0.622																																					p.K103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G309T	6						.						57.0	53.0	54.0					6																	26598209		2203	4300	6503	26706188	SO:0001583	missense	29777	exon2			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.309G>T	6.37:g.26598209G>T	ENSP00000274849:p.Lys103Asn		26706188	NM_013375		Missense_Mutation	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363229	0.82353	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.23	2.35	0.29111	Nucleotide-binding, alpha-beta plait (1);	0.327319	0.35555	N	0.003140	T	0.36496	0.0969	L	0.35854	1.095	0.39955	D	0.97458	D	0.64830	0.994	P	0.57548	0.823	T	0.12682	-1.0538	9	0.25751	T	0.34	-0.7713	8.1855	0.31337	0.2826:0.0:0.7174:0.0	.	103	Q9ULW3	ABT1_HUMAN	N	103	.	ENSP00000274849:K103N	K	+	3	2	ABT1	26706188	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.807000	0.47955	0.260000	0.21731	0.563000	0.77884	AAG		0.622	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1		
ZNF391	346157	broad.mit.edu	37	6	27368192	27368192	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27368192G>T	ENST00000244576.4	+	3	588	c.43G>T	c.(43-45)Gaa>Taa	p.E15*		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	15					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.E15*(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCCTACAAATGAAGAAGACTA	0.423																																					p.E15X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G43T	6						.						97.0	89.0	92.0					6																	27368192		1845	4095	5940	27476171	SO:0001587	stop_gained	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.43G>T	6.37:g.27368192G>T	ENSP00000244576:p.Glu15*		27476171	NM_001076781	B4DH77	Nonsense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711936	0.68730	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	.	.	.	3.74	0.76	0.18442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	4.5162	0.11935	0.2069:0.0:0.6181:0.1749	.	.	.	.	X	15	.	ENSP00000244576:E15X	E	+	1	0	ZNF391	27476171	0.000000	0.05858	0.045000	0.18777	0.512000	0.34134	0.411000	0.21115	0.275000	0.22094	0.655000	0.94253	GAA		0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZNF391	346157	broad.mit.edu	37	6	27368259	27368259	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27368259C>A	ENST00000244576.4	+	3	655	c.110C>A	c.(109-111)tCt>tAt	p.S37Y		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S37Y(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAGAAATCCTCTTTTGAGAAC	0.423																																					p.S37Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C110A	6						.						114.0	105.0	108.0					6																	27368259		1868	4095	5963	27476238	SO:0001583	missense	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.110C>A	6.37:g.27368259C>A	ENSP00000244576:p.Ser37Tyr		27476238	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323921	0.41096	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.08370	3.1;6.01	3.42	-0.61	0.11604	.	.	.	.	.	T	0.02267	0.0070	L	0.61387	1.9	0.09310	N	1	B	0.23128	0.08	B	0.21917	0.037	T	0.45425	-0.9262	9	0.35671	T	0.21	.	0.3005	0.00272	0.1974:0.2912:0.1942:0.3173	.	37	Q9UJN7	ZN391_HUMAN	Y	37	ENSP00000244576:S37Y;ENSP00000419498:S37Y	ENSP00000244576:S37Y	S	+	2	0	ZNF391	27476238	0.000000	0.05858	0.018000	0.16275	0.670000	0.39368	-0.044000	0.12023	-0.040000	0.13580	0.655000	0.94253	TCT		0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZNF391	346157	broad.mit.edu	37	6	27368953	27368953	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27368953G>A	ENST00000244576.4	+	3	1349	c.804G>A	c.(802-804)caG>caA	p.Q268Q	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	268					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.Q268Q(1)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTGAACATCAGAGAACACACA	0.448																																					p.Q268Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804A	6						.						63.0	70.0	67.0					6																	27368953		2196	4296	6492	27476932	SO:0001819	synonymous_variant	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.804G>A	6.37:g.27368953G>A			27476932	NM_001076781	B4DH77	Silent	SNP	ENST00000244576.4	37	CCDS43429.1																																																																																				0.448	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZNF391	346157	broad.mit.edu	37	6	27369096	27369096	+	Missense_Mutation	SNP	G	G	A	rs372035777		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27369096G>A	ENST00000244576.4	+	3	1492	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	316					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.R316Q(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGCTTCAGTCGAAGCTCATCC	0.463																																					p.R316Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G947A	6						.	G	GLN/ARG	2,4130		0,2,2064	76.0	79.0	78.0		947	-1.1	0.0	6		78	0,8482		0,0,4241	no	missense	ZNF391	NM_001076781.1	43	0,2,6305	AA,AG,GG		0.0,0.0484,0.0159	probably-damaging	316/359	27369096	2,12612	2066	4241	6307	27477075	SO:0001583	missense	346157	exon3			BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.947G>A	6.37:g.27369096G>A	ENSP00000244576:p.Arg316Gln		27477075	NM_001076781	B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	0.931	-0.712537	0.03206	4.84E-4	0.0	ENSG00000124613	ENST00000244576	T	0.07444	3.19	3.91	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.11364	0.135	0.09310	N	1	P	0.44139	0.827	B	0.19391	0.025	T	0.39482	-0.9612	9	0.02654	T	1	.	4.4301	0.11524	0.4016:0.172:0.4264:0.0	.	316	Q9UJN7	ZN391_HUMAN	Q	316	ENSP00000244576:R316Q	ENSP00000244576:R316Q	R	+	2	0	ZNF391	27477075	0.000000	0.05858	0.044000	0.18714	0.793000	0.44817	0.134000	0.15932	0.155000	0.19261	0.557000	0.71058	CGA		0.463	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781	
ZNF184	7738	broad.mit.edu	37	6	27419185	27419185	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27419185C>A	ENST00000211936.6	-	6	2437	c.2153G>T	c.(2152-2154)aGa>aTa	p.R718I	ZNF184_ENST00000377419.1_Missense_Mutation_p.R718I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R718I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGAATGAATTCTCTGGTGCTG	0.403																																					p.R718I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2153T	6						.						142.0	146.0	145.0					6																	27419185		2203	4300	6503	27527164	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2153G>T	6.37:g.27419185C>A	ENSP00000211936:p.Arg718Ile		27527164	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097292	0.37048	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.10005	2.92;2.92	4.95	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.118619	0.38778	N	0.001568	T	0.05410	0.0143	M	0.61703	1.905	0.46954	D	0.999263	P	0.44776	0.843	B	0.36922	0.236	T	0.18999	-1.0319	10	0.46703	T	0.11	.	10.2604	0.43423	0.0:0.9012:0.0:0.0988	.	718	Q99676	ZN184_HUMAN	I	718;718;634	ENSP00000211936:R718I;ENSP00000366636:R718I	ENSP00000211936:R718I	R	-	2	0	ZNF184	27527164	0.000000	0.05858	0.973000	0.42090	0.988000	0.76386	0.508000	0.22692	1.289000	0.44618	0.591000	0.81541	AGA		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF184	7738	broad.mit.edu	37	6	27419906	27419906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27419906C>A	ENST00000211936.6	-	6	1716	c.1432G>T	c.(1432-1434)Gaa>Taa	p.E478*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.E478*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E478*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCCACATTCATTGCATTTG	0.408																																					p.E478X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1432T	6						.						81.0	76.0	78.0					6																	27419906		2203	4300	6503	27527885	SO:0001587	stop_gained	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1432G>T	6.37:g.27419906C>A	ENSP00000211936:p.Glu478*		27527885	NM_007149	B2R715|O60792|Q8TBA9	Nonsense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	37	6.269881	0.97431	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	.	.	.	5.27	5.27	0.74061	.	0.130764	0.35262	N	0.003338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	16.4094	0.83703	0.0:1.0:0.0:0.0	.	.	.	.	X	478	.	ENSP00000211936:E478X	E	-	1	0	ZNF184	27527885	0.000000	0.05858	0.553000	0.28255	0.999000	0.98932	0.659000	0.24994	2.744000	0.94065	0.655000	0.94253	GAA		0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF184	7738	broad.mit.edu	37	6	27420219	27420219	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27420219C>A	ENST00000211936.6	-	6	1403	c.1119G>T	c.(1117-1119)agG>agT	p.R373S	ZNF184_ENST00000377419.1_Missense_Mutation_p.R373S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R373S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGTGTGTGCTCCTGGTGAAGG	0.383																																					p.R373S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1119T	6						.						53.0	54.0	54.0					6																	27420219		2203	4300	6503	27528198	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1119G>T	6.37:g.27420219C>A	ENSP00000211936:p.Arg373Ser		27528198	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857732	0.32791	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.16743	2.32;2.32	5.25	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000036	T	0.01489	0.0048	N	0.03324	-0.35	0.09310	N	1	B	0.30455	0.28	B	0.20955	0.032	T	0.41858	-0.9485	10	0.15066	T	0.55	.	5.2067	0.15295	0.1639:0.6627:0.0:0.1734	.	373	Q99676	ZN184_HUMAN	S	373;373;373;61	ENSP00000211936:R373S;ENSP00000366636:R373S	ENSP00000211936:R373S	R	-	3	2	ZNF184	27528198	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.368000	0.07543	1.453000	0.47775	0.650000	0.86243	AGG		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
HIST1H2BM	8342	broad.mit.edu	37	6	27783011	27783011	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27783011A>C	ENST00000359465.4	+	1	190	c.190A>C	c.(190-192)Aac>Cac	p.N64H	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	64					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N64H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GGGAATCATGAACTCCTTCGT	0.552																																					p.N64H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A190C	6						.						169.0	157.0	161.0					6																	27783011		2203	4300	6503	27890990	SO:0001583	missense	8342	exon1			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.190A>C	6.37:g.27783011A>C	ENSP00000352442:p.Asn64His		27890990	NM_003521	Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	15.34	2.805458	0.50315	.	.	ENSG00000196374	ENST00000359465	T	0.22134	1.97	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000007	T	0.51227	0.1662	H	0.96889	3.9	0.58432	D	0.999999	D	0.71674	0.998	D	0.74674	0.984	T	0.68625	-0.5359	10	0.87932	D	0	.	12.8248	0.57714	1.0:0.0:0.0:0.0	.	64	Q99879	H2B1M_HUMAN	H	64	ENSP00000352442:N64H	ENSP00000352442:N64H	N	+	1	0	HIST1H2BM	27890990	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	8.604000	0.90877	1.869000	0.54173	0.460000	0.39030	AAC		0.552	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521	
OR2B2	81697	broad.mit.edu	37	6	27879649	27879649	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27879649A>T	ENST00000303324.2	-	1	525	c.449T>A	c.(448-450)aTt>aAt	p.I150N		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I150N(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAAGCCACTAATCCAGGATGC	0.463																																					p.I150N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T449A	6						.						78.0	75.0	76.0					6																	27879649		2203	4300	6503	27987628	SO:0001583	missense	81697	exon1			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.449T>A	6.37:g.27879649A>T	ENSP00000304419:p.Ile150Asn		27987628	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556663	0.45487	.	.	ENSG00000168131	ENST00000303324	T	0.42131	0.98	4.42	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.673320	0.11958	U	0.513001	T	0.34077	0.0885	M	0.75884	2.315	0.09310	N	1	P	0.48294	0.908	P	0.50136	0.632	T	0.22941	-1.0202	10	0.62326	D	0.03	.	6.3086	0.21153	0.7932:0.0:0.2068:0.0	.	150	Q9GZK3	OR2B2_HUMAN	N	150	ENSP00000304419:I150N	ENSP00000304419:I150N	I	-	2	0	OR2B2	27987628	0.000000	0.05858	0.176000	0.23000	0.818000	0.46254	1.249000	0.32839	0.782000	0.33613	0.460000	0.39030	ATT		0.463	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
OR2B2	81697	broad.mit.edu	37	6	27879758	27879758	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27879758G>T	ENST00000303324.2	-	1	416	c.340C>A	c.(340-342)Ctc>Atc	p.L114I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L114I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACGGCCAGGAGAAGACATTCT	0.478																																					p.L114I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340A	6						.						108.0	98.0	101.0					6																	27879758		2203	4300	6503	27987737	SO:0001583	missense	81697	exon1			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.340C>A	6.37:g.27879758G>T	ENSP00000304419:p.Leu114Ile		27987737	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983860	0.35036	.	.	ENSG00000168131	ENST00000303324	T	0.12984	2.63	4.52	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	U	0.003309	T	0.26048	0.0635	M	0.84948	2.725	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.07366	-1.0776	10	0.66056	D	0.02	.	10.9497	0.47321	0.0961:0.0:0.9039:0.0	.	114	Q9GZK3	OR2B2_HUMAN	I	114	ENSP00000304419:L114I	ENSP00000304419:L114I	L	-	1	0	OR2B2	27987737	0.598000	0.26882	0.994000	0.49952	0.450000	0.32258	1.292000	0.33342	1.185000	0.42971	0.563000	0.77884	CTC		0.478	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
OR2B2	81697	broad.mit.edu	37	6	27879871	27879871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:27879871C>A	ENST00000303324.2	-	1	303	c.227G>T	c.(226-228)aGt>aTt	p.S76I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S76I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGGAACTGTACTTGTGGTATA	0.433																																					p.S76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227T	6						.						160.0	140.0	147.0					6																	27879871		2203	4300	6503	27987850	SO:0001583	missense	81697	exon1			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.227G>T	6.37:g.27879871C>A	ENSP00000304419:p.Ser76Ile		27987850	NM_033057	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512850	0.27123	.	.	ENSG00000168131	ENST00000303324	T	0.00348	8.0	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	U	0.000324	T	0.00210	0.0006	M	0.73430	2.235	0.09310	N	1	P	0.52842	0.956	P	0.48368	0.575	T	0.34229	-0.9837	10	0.87932	D	0	.	11.4182	0.49965	0.0:0.8161:0.1839:0.0	.	76	Q9GZK3	OR2B2_HUMAN	I	76	ENSP00000304419:S76I	ENSP00000304419:S76I	S	-	2	0	OR2B2	27987850	0.000000	0.05858	0.768000	0.31515	0.167000	0.22549	-1.985000	0.01485	2.428000	0.82296	0.563000	0.77884	AGT		0.433	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
ZSCAN16	80345	broad.mit.edu	37	6	28093321	28093321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28093321C>T	ENST00000340487.4	+	2	249	c.100C>T	c.(100-102)Cct>Tct	p.P34S	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	34					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.P34S(1)		large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAAGTGCAGTCCTCACAGGAG	0.522																																					p.P34S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100T	6						.						194.0	199.0	197.0					6																	28093321		2203	4300	6503	28201300	SO:0001583	missense	80345	exon2			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.100C>T	6.37:g.28093321C>T	ENSP00000366527:p.Pro34Ser		28201300	NM_025231	Q9H6K2	Missense_Mutation	SNP	ENST00000340487.4	37	CCDS4644.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490762	0.26774	.	.	ENSG00000196812	ENST00000340487	T	0.05447	3.44	3.65	2.72	0.32119	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.01835	0.0058	L	0.50333	1.59	0.09310	N	1	B;B	0.30793	0.057;0.295	B;B	0.24701	0.01;0.055	T	0.44787	-0.9305	9	0.16420	T	0.52	.	8.7414	0.34560	0.0:0.7663:0.2337:0.0	.	34;34	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	S	34	ENSP00000366527:P34S	ENSP00000366527:P34S	P	+	1	0	ZSCAN16	28201300	0.000000	0.05858	0.023000	0.16930	0.681000	0.39784	0.432000	0.21461	0.799000	0.34018	0.557000	0.71058	CCT		0.522	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231	
ZKSCAN8	7745	broad.mit.edu	37	6	28121776	28121776	+	Missense_Mutation	SNP	C	C	A	rs374105856		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28121776C>A	ENST00000330236.6	+	6	1902	c.1718C>A	c.(1717-1719)tCt>tAt	p.S573Y	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.S573Y	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	573					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.S573Y(1)									GGTGAAAAATCTGAATCCATA	0.423																																					p.S573Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1718A	6						.						99.0	96.0	97.0					6																	28121776		2203	4300	6503	28229755	SO:0001583	missense	7745	exon6				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1718C>A	6.37:g.28121776C>A	ENSP00000332750:p.Ser573Tyr		28229755	NM_006298	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126603	0.37533	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.06768	3.26;3.26	5.44	3.59	0.41128	Zinc finger, C2H2 (1);	0.392212	0.22197	N	0.063286	T	0.04092	0.0114	L	0.54323	1.7	0.80722	D	1	B	0.32425	0.371	B	0.30716	0.119	T	0.14868	-1.0457	10	0.87932	D	0	.	9.6044	0.39624	0.1402:0.7833:0.0:0.0765	.	573	Q15776	ZN192_HUMAN	Y	573	ENSP00000332750:S573Y;ENSP00000402948:S573Y	ENSP00000332750:S573Y	S	+	2	0	ZNF192	28229755	0.998000	0.40836	0.972000	0.41901	0.946000	0.59487	3.070000	0.50033	1.234000	0.43709	0.655000	0.94253	TCT		0.423	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2		
NKAPL	222698	broad.mit.edu	37	6	28227462	28227462	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28227462C>T	ENST00000343684.3	+	1	365	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	105								p.R105W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGCAGAAGAACGGCAGTCAGC	0.582																																					p.R105W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313T	6						.						69.0	69.0	69.0					6																	28227462		2203	4300	6503	28335441	SO:0001583	missense	222698	exon1			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.313C>T	6.37:g.28227462C>T	ENSP00000345716:p.Arg105Trp		28335441	NM_001007531	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104958	0.37145	.	.	ENSG00000189134	ENST00000343684	T	0.15487	2.42	4.77	-2.11	0.07187	.	0.634420	0.16795	N	0.199208	T	0.04452	0.0122	M	0.65975	2.015	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.35226	-0.9797	10	0.36615	T	0.2	-0.0126	1.511	0.02496	0.1413:0.4193:0.1455:0.2939	.	105	Q5M9Q1	NKAPL_HUMAN	W	105	ENSP00000345716:R105W	ENSP00000345716:R105W	R	+	1	2	NKAPL	28335441	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.869000	0.04232	-0.533000	0.06323	0.655000	0.94253	CGG		0.582	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
NKAPL	222698	broad.mit.edu	37	6	28227693	28227693	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28227693C>T	ENST00000343684.3	+	1	596	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	182	Lys-rich.							p.R182C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGACCAGTCGTTCAAGAAA	0.383																																					p.R182C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	6						.						36.0	44.0	41.0					6																	28227693		2203	4298	6501	28335672	SO:0001583	missense	222698	exon1			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.544C>T	6.37:g.28227693C>T	ENSP00000345716:p.Arg182Cys		28335672	NM_001007531	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272190	0.23221	.	.	ENSG00000189134	ENST00000343684	T	0.14266	2.52	4.74	2.95	0.34219	.	.	.	.	.	T	0.08935	0.0221	L	0.44542	1.39	0.09310	N	0.999999	D	0.76494	0.999	P	0.54856	0.762	T	0.13495	-1.0507	9	0.62326	D	0.03	5.0E-4	5.9821	0.19413	0.1877:0.7159:0.0:0.0965	.	182	Q5M9Q1	NKAPL_HUMAN	C	182	ENSP00000345716:R182C	ENSP00000345716:R182C	R	+	1	0	NKAPL	28335672	0.605000	0.26941	0.301000	0.25044	0.525000	0.34531	0.937000	0.28951	0.722000	0.32252	0.655000	0.94253	CGT		0.383	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1		
Unknown	0	broad.mit.edu	37	6	28244371	28244371	+	IGR	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28244371G>C								NKAPL (15635 upstream) : PGBD1 (4942 downstream)																							CCTTATCAGTGCAATGAGTGT	0.433																																					p.C178S												.	.	0			c.G533C	6						.						66.0	68.0	68.0					6																	28244371		2069	4230	6299	28352350	SO:0001628	intergenic_variant	7741	exon4																															6.37:g.28244371G>C			28352350	NM_152736		Missense_Mutation	SNP		37																																																																																				0	0.433								
PGBD1	84547	broad.mit.edu	37	6	28269597	28269597	+	Missense_Mutation	SNP	G	G	A	rs200203742		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28269597G>A	ENST00000405948.2	+	7	2386	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E656K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	656						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E656K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACAGGACCGAAAAATGTCC	0.373																																					p.E656K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966A	6						.						89.0	87.0	87.0					6																	28269597		2203	4300	6503	28377576	SO:0001583	missense	84547	exon7			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1966G>A	6.37:g.28269597G>A	ENSP00000385213:p.Glu656Lys		28377576	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036827	0.54896	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01388	4.95;4.95	4.76	3.88	0.44766	.	0.643417	0.14046	N	0.345079	T	0.00524	0.0017	L	0.41710	1.295	0.25659	N	0.986029	P	0.39903	0.694	B	0.37780	0.258	T	0.41556	-0.9502	10	0.11182	T	0.66	-5.526	8.7917	0.34854	0.1027:0.0:0.8973:0.0	.	656	Q96JS3	PGBD1_HUMAN	K	656	ENSP00000385213:E656K;ENSP00000259883:E656K	ENSP00000259883:E656K	E	+	1	0	PGBD1	28377576	0.997000	0.39634	0.900000	0.35374	0.946000	0.59487	2.279000	0.43435	1.356000	0.45884	0.655000	0.94253	GAA		0.373	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
ZBED9	114821	broad.mit.edu	37	6	28541333	28541333	+	Missense_Mutation	SNP	C	C	T	rs150277871	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28541333C>T	ENST00000452236.2	-	4	2950	c.2333G>A	c.(2332-2334)cGa>cAa	p.R778Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.R778Q(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atataaatgtcgcttaagttt	0.333													C|||	3	0.000599042	0.0	0.0	5008	,	,		18583	0.0		0.003	False		,,,				2504	0.0				p.R778Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2333A	6						.	C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	60.0	56.0	57.0		2333	2.3	1.0	6	dbSNP_134	57	37,8559	24.0+/-70.4	0,37,4261	yes	missense	SCAND3	NM_052923.1	43	0,41,6460	TT,TC,CC		0.4304,0.0908,0.3153	possibly-damaging	778/1326	28541333	41,12961	2203	4298	6501	28649312	SO:0001583	missense	114821	exon4																														ENST00000452236.2:c.2333G>A	6.37:g.28541333C>T	ENSP00000395259:p.Arg778Gln		28649312	NM_052923		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.13	3.037053	0.54896	9.08E-4	0.004304	ENSG00000232040	ENST00000452236	T	0.02158	4.42	2.27	2.27	0.28462	.	0.124609	0.29246	U	0.012714	T	0.03520	0.0101	M	0.63843	1.955	0.26074	N	0.981186	D	0.61697	0.99	D	0.67725	0.953	T	0.25257	-1.0137	10	0.66056	D	0.02	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	778	Q6R2W3	SCND3_HUMAN	Q	778	ENSP00000395259:R778Q	ENSP00000395259:R778Q	R	-	2	0	SCAND3	28649312	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	CGA		0.333	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28542810	28542810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28542810C>A	ENST00000452236.2	-	3	2289	c.1672G>T	c.(1672-1674)Gaa>Taa	p.E558*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E558*(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAAGTATTTTCTAACTCTTTG	0.398																																					p.E558X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1672T	6						.						87.0	86.0	86.0					6																	28542810		2203	4300	6503	28650789	SO:0001587	stop_gained	114821	exon3																														ENST00000452236.2:c.1672G>T	6.37:g.28542810C>A	ENSP00000395259:p.Glu558*		28650789	NM_052923		Nonsense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	41	9.123980	0.99073	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	10.5109	0.44862	0.0:1.0:0.0:0.0	.	.	.	.	X	558	.	ENSP00000395259:E558X	E	-	1	0	SCAND3	28650789	0.116000	0.22171	0.097000	0.21041	0.977000	0.68977	0.501000	0.22578	1.913000	0.55393	0.563000	0.77884	GAA		0.398	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28542901	28542901	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28542901A>C	ENST00000452236.2	-	3	2198	c.1581T>G	c.(1579-1581)gcT>gcG	p.A527A	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.A527A(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGCCCAGTTTAGCTTCAGAGC	0.408																																					p.A527A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1581G	6						.						118.0	116.0	116.0					6																	28542901		2203	4300	6503	28650880	SO:0001819	synonymous_variant	114821	exon3																														ENST00000452236.2:c.1581T>G	6.37:g.28542901A>C			28650880	NM_052923		Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
ZBED9	114821	broad.mit.edu	37	6	28543116	28543116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:28543116C>A	ENST00000452236.2	-	3	1983	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E456*(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTTTCAATTCTGGCCAAATA	0.423																																					p.E456X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1366T	6						.						65.0	67.0	66.0					6																	28543116		2203	4300	6503	28651095	SO:0001587	stop_gained	114821	exon3																														ENST00000452236.2:c.1366G>T	6.37:g.28543116C>A	ENSP00000395259:p.Glu456*		28651095	NM_052923		Nonsense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712347	0.98925	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.95	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.6318	0.28243	0.0:0.8625:0.0:0.1375	.	.	.	.	X	456	.	ENSP00000395259:E456X	E	-	1	0	SCAND3	28651095	0.973000	0.33851	1.000000	0.80357	0.996000	0.88848	0.530000	0.23036	1.668000	0.50843	0.563000	0.77884	GAA		0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
OR2W1	26692	broad.mit.edu	37	6	29012509	29012509	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29012509G>T	ENST00000377175.1	-	1	508	c.444C>A	c.(442-444)atC>atA	p.I148I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I148I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TAATACTCCAGATCATGATAA	0.373																																					p.I148I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444A	6						.						96.0	94.0	94.0					6																	29012509		1511	2709	4220	29120488	SO:0001819	synonymous_variant	26692	exon1			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.444C>A	6.37:g.29012509G>T			29120488	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	CCDS4656.1																																																																																				0.373	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR14J1	442191	broad.mit.edu	37	6	29275118	29275118	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29275118C>T	ENST00000377160.2	+	1	716	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R218C(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTCCTACATTCGCATCTTCTC	0.463																																					p.R218C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652T	6						.						164.0	169.0	167.0					6																	29275118		1511	2709	4220	29383097	SO:0001583	missense	442191	exon1				CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.652C>T	6.37:g.29275118C>T	ENSP00000366365:p.Arg218Cys		29383097	NM_030946	A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086134	0.36855	.	.	ENSG00000204695	ENST00000377160	T	0.00099	8.73	4.86	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.846689	0.09943	N	0.735688	T	0.00073	0.0002	L	0.28274	0.84	0.09310	N	1	D	0.69078	0.997	P	0.53185	0.72	T	0.01492	-1.1341	10	0.34782	T	0.22	.	7.3129	0.26485	0.0:0.6427:0.0:0.3573	.	218	Q9UGF5	O14J1_HUMAN	C	218	ENSP00000366365:R218C	ENSP00000366365:R218C	R	+	1	0	OR14J1	29383097	0.000000	0.05858	0.005000	0.12908	0.442000	0.32017	-0.720000	0.04969	1.268000	0.44264	0.650000	0.86243	CGC		0.463	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2		
OR5V1	81696	broad.mit.edu	37	6	29323965	29323965	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29323965C>A	ENST00000377154.1	-	4	307	c.8G>T	c.(7-9)aGa>aTa	p.R3I	OR5V1_ENST00000543825.1_Missense_Mutation_p.R3I			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R3I(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGATTCTTTCTTTCCATGAT	0.348																																					p.R3I	Ovarian(32;43 883 21137 32120 42650)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8T	6						.						54.0	54.0	54.0					6																	29323965		2151	4196	6347	29431944	SO:0001583	missense	81696	exon1				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.8G>T	6.37:g.29323965C>A	ENSP00000366359:p.Arg3Ile		29431944	NM_030876	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	2.343	-0.350657	0.05173	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.09817	2.94;2.94	3.96	-1.35	0.09114	.	0.261544	0.20203	N	0.097059	T	0.01905	0.0060	L	0.33189	0.99	0.09310	N	1	B	0.24823	0.112	B	0.19666	0.026	T	0.44697	-0.9311	10	0.27785	T	0.31	-4.4132	5.981	0.19407	0.1289:0.352:0.0:0.5191	.	3	Q9UGF6	OR5V1_HUMAN	I	3	ENSP00000366359:R3I;ENSP00000443309:R3I	ENSP00000366356:R3I	R	-	2	0	OR5V1	29431944	0.000000	0.05858	0.003000	0.11579	0.050000	0.14768	-0.988000	0.03739	-0.297000	0.08934	-0.310000	0.09108	AGA		0.348	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3		
OR12D3	81797	broad.mit.edu	37	6	29342605	29342605	+	Missense_Mutation	SNP	C	C	T	rs151096169		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29342605C>T	ENST00000396806.3	-	1	463	c.460G>A	c.(460-462)Gct>Act	p.A154T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A154T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGCATCAGAGCGTAAAAGAAG	0.483																																					p.A154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	6						.	C	THR/ALA	1,3017		0,1,1508	61.0	62.0	62.0		460	4.2	0.2	6	dbSNP_134	62	0,5418		0,0,2709	no	missense	OR12D3	NM_030959.2	58	0,1,4217	TT,TC,CC		0.0,0.0331,0.0119	probably-damaging	154/317	29342605	1,8435	1509	2709	4218	29450584	SO:0001583	missense	81797	exon1				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.460G>A	6.37:g.29342605C>T	ENSP00000380023:p.Ala154Thr		29450584	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509489	0.44660	3.31E-4	0.0	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.39056	1.1	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43919	0.1269	M	0.61703	1.905	0.24595	N	0.993802	D	0.89917	1.0	D	0.75484	0.986	T	0.37454	-0.9705	9	0.66056	D	0.02	-8.6486	5.3109	0.15829	0.2618:0.6352:0.0:0.103	.	154	Q9UGF7	O12D3_HUMAN	T	154	ENSP00000380023:A154T	ENSP00000366348:A154T	A	-	1	0	OR12D3	29450584	0.000000	0.05858	0.197000	0.23402	0.291000	0.27294	-0.382000	0.07408	2.142000	0.66516	0.195000	0.17529	GCT		0.483	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
OR12D3	81797	broad.mit.edu	37	6	29343059	29343059	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29343059C>A	ENST00000396806.3	-	1	9	c.6G>T	c.(4-6)gaG>gaT	p.E2D	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAGTGACATTCTCCATTGCTC	0.333																																					p.E2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6T	6						.						31.0	34.0	33.0					6																	29343059		1489	2689	4178	29451038	SO:0001583	missense	81797	exon1				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.6G>T	6.37:g.29343059C>A	ENSP00000380023:p.Glu2Asp		29451038	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	c	3.233	-0.157039	0.06544	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01406	4.93	4.34	-0.148	0.13424	.	.	.	.	.	T	0.00440	0.0014	L	0.41415	1.275	0.09310	N	0.999997	B	0.10296	0.003	B	0.09377	0.004	T	0.42949	-0.9421	9	0.28530	T	0.3	-0.1701	3.4493	0.07493	0.4232:0.2824:0.0:0.2945	.	2	Q9UGF7	O12D3_HUMAN	D	2	ENSP00000380023:E2D	ENSP00000366348:E2D	E	-	3	2	OR12D3	29451038	0.000000	0.05858	0.016000	0.15963	0.799000	0.45148	-0.928000	0.03980	0.094000	0.17404	0.431000	0.28591	GAG		0.333	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
OR11A1	26531	broad.mit.edu	37	6	29394864	29394864	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29394864G>A	ENST00000377149.1	-	5	1027	c.555C>T	c.(553-555)ttC>ttT	p.F185F	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.F185F|OR11A1_ENST00000377147.2_Silent_p.F185F			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F185F(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCAGGCCCACGAAAAGCATAA	0.512																																					p.F185F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	6						.						49.0	49.0	49.0					6																	29394864		1509	2707	4216	29502843	SO:0001819	synonymous_variant	26531	exon1				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.555C>T	6.37:g.29394864G>A			29502843	NM_013937	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	CCDS34363.1																																																																																				0.512	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1		
OR2H1	26716	broad.mit.edu	37	6	29430435	29430435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29430435C>T	ENST00000377136.1	+	4	1354	c.889C>T	c.(889-891)Cga>Tga	p.R297*	OR2H1_ENST00000377132.1_Nonsense_Mutation_p.R297*|OR2H1_ENST00000377133.1_Nonsense_Mutation_p.R297*|OR2H1_ENST00000396792.2_Nonsense_Mutation_p.R297*|OR2H1_ENST00000442615.1_Nonsense_Mutation_p.R297*|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R297*(1)		large_intestine(5)|lung(12)	17						GGAGATAAAGCGAGCACTCAG	0.463																																					p.R297X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C889T	6						.						64.0	66.0	65.0					6																	29430435		1510	2707	4217	29538414	SO:0001587	stop_gained	26716	exon3			AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.889C>T	6.37:g.29430435C>T	ENSP00000366340:p.Arg297*		29538414	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Nonsense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568741	0.65765	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	.	.	.	3.18	-0.73	0.11154	.	0.658896	0.13367	N	0.393254	.	.	.	.	.	.	0.25250	N	0.98969	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	4.705	0.12846	0.4837:0.169:0.3473:0.0	.	.	.	.	X	297	.	ENSP00000366336:R297X	R	+	1	2	OR2H1	29538414	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.021000	0.12504	-0.113000	0.11958	-0.324000	0.08512	CGA		0.463	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
MAS1L	116511	broad.mit.edu	37	6	29454673	29454673	+	Missense_Mutation	SNP	G	G	A	rs566796111	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29454673G>A	ENST00000377127.3	-	1	1065	c.1007C>T	c.(1006-1008)gCg>gTg	p.A336V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	336					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A336V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ATCTGCTAACGCCCGTTGGAG	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0				p.A336V	NSCLC(153;755 1987 3859 11251 32945)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1007T	6						.						137.0	138.0	138.0					6																	29454673		2203	4300	6503	29562652	SO:0001583	missense	116511	exon1			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1007C>T	6.37:g.29454673G>A	ENSP00000366331:p.Ala336Val		29562652	NM_052967	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	8.581	0.882339	0.17467	.	.	ENSG00000204687	ENST00000377127	T	0.36878	1.23	2.23	0.27	0.15635	.	.	.	.	.	T	0.10680	0.0261	L	0.45285	1.41	0.09310	N	1	B	0.27700	0.186	B	0.29942	0.109	T	0.33033	-0.9884	9	0.44086	T	0.13	.	2.6171	0.04907	0.2894:0.0:0.4883:0.2223	.	336	P35410	MAS1L_HUMAN	V	336	ENSP00000366331:A336V	ENSP00000366331:A336V	A	-	2	0	MAS1L	29562652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.361000	0.07612	-0.075000	0.12798	-0.364000	0.07487	GCG		0.493	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
MAS1L	116511	broad.mit.edu	37	6	29455365	29455365	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29455365C>T	ENST00000377127.3	-	1	373	c.315G>A	c.(313-315)acG>acA	p.T105T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	105					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T105T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGTAGGGATTCGTGGCCCCAC	0.537																																					p.T105T	NSCLC(153;755 1987 3859 11251 32945)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G315A	6						.						69.0	64.0	66.0					6																	29455365		2203	4300	6503	29563344	SO:0001819	synonymous_variant	116511	exon1			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.315G>A	6.37:g.29455365C>T			29563344	NM_052967	Q5SUN5	Silent	SNP	ENST00000377127.3	37	CCDS4661.1																																																																																				0.537	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
MAS1L	116511	broad.mit.edu	37	6	29455563	29455563	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29455563C>A	ENST00000377127.3	-	1	175	c.117G>T	c.(115-117)caG>caT	p.Q39H		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	39					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q39H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGTTTGGGTTCTGTGCCTCCT	0.507																																					p.Q39H	NSCLC(153;755 1987 3859 11251 32945)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G117T	6						.						83.0	85.0	84.0					6																	29455563		2203	4300	6503	29563542	SO:0001583	missense	116511	exon1			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.117G>T	6.37:g.29455563C>A	ENSP00000366331:p.Gln39His		29563542	NM_052967	Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	6.148	0.395427	0.11638	.	.	ENSG00000204687	ENST00000377127	T	0.03982	3.74	0.493	0.493	0.16878	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.31290	0.127	T	0.50294	-0.8845	8	0.42905	T	0.14	.	.	.	.	.	39	P35410	MAS1L_HUMAN	H	39	ENSP00000366331:Q39H	ENSP00000366331:Q39H	Q	-	3	2	MAS1L	29563542	0.017000	0.18338	0.016000	0.15963	0.022000	0.10575	1.242000	0.32755	0.545000	0.28902	0.395000	0.25975	CAG		0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967	
GABBR1	2550	broad.mit.edu	37	6	29574676	29574676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29574676C>A	ENST00000377034.4	-	18	2550	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	GABBR1_ENST00000377016.4_Nonsense_Mutation_p.E677*|GABBR1_ENST00000355973.3_Nonsense_Mutation_p.E622*|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Nonsense_Mutation_p.E622*	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	739					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.E739*(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGTGGTACCTCAATGGTCCGG	0.597																																					p.E677X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2029T	6						.						64.0	54.0	57.0					6																	29574676		1511	2709	4220	29682655	SO:0001587	stop_gained	2550	exon17			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2215G>T	6.37:g.29574676C>A	ENSP00000366233:p.Glu739*		29682655	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Nonsense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.055650|8.055650	0.98632|0.98632	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034|ENST00000485026	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.35671|.	T|.	0.21|.	-13.3019|-13.3019	14.7425|14.7425	0.69467|0.69467	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	622;677;622;739|119	.|.	ENSP00000348248:E622X|.	E|X	-|-	1|2	0|2	GABBR1|GABBR1	29682655|29682655	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.364000|0.364000	0.29643|0.29643	7.286000|7.286000	0.78671|0.78671	2.121000|2.121000	0.65114|0.65114	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.597	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
GABBR1	2550	broad.mit.edu	37	6	29577098	29577098	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29577098C>T	ENST00000377034.4	-	15	2102	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	GABBR1_ENST00000377016.4_Silent_p.Q527Q|GABBR1_ENST00000355973.3_Silent_p.Q472Q|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Silent_p.Q472Q	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	589					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.Q589Q(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TAAAGAGTTTCTGTGACAGGA	0.522																																					p.Q527Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1581A	6						.						118.0	94.0	103.0					6																	29577098		1511	2709	4220	29685077	SO:0001819	synonymous_variant	2550	exon14			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1767G>A	6.37:g.29577098C>T			29685077	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	CCDS4663.1																																																																																				0.522	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
GABBR1	2550	broad.mit.edu	37	6	29581160	29581160	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29581160C>T	ENST00000377034.4	-	12	1761	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	GABBR1_ENST00000377016.4_Missense_Mutation_p.A414T|GABBR1_ENST00000355973.3_Missense_Mutation_p.A359T|GABBR1_ENST00000376977.3_Missense_Mutation_p.A476T|GABBR1_ENST00000377012.4_Missense_Mutation_p.A359T	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	476					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.A476T(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGTGCCAAGGCCCAGATGGCA	0.552																																					p.A414T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	6						.						114.0	121.0	118.0					6																	29581160		1510	2709	4219	29689139	SO:0001583	missense	2550	exon11			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1426G>A	6.37:g.29581160C>T	ENSP00000366233:p.Ala476Thr		29689139	NM_021904	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428446	0.96131	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.108366	0.64402	D	0.000007	D	0.85496	0.5710	L	0.58354	1.805	0.80722	D	1	B;P;P;P	0.43938	0.3;0.802;0.698;0.822	B;P;P;P	0.51055	0.223;0.592;0.618;0.657	D	0.84323	0.0517	10	0.40728	T	0.16	-18.8442	17.64	0.88133	0.0:1.0:0.0:0.0	.	476;414;476;359	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	T	359;476;414;359;476	ENSP00000348248:A359T;ENSP00000366176:A476T;ENSP00000366215:A414T;ENSP00000366211:A359T;ENSP00000366233:A476T	ENSP00000348248:A359T	A	-	1	0	GABBR1	29689139	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.421000	0.80204	2.769000	0.95229	0.655000	0.94253	GCC		0.552	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
ZFP57	346171	broad.mit.edu	37	6	29644661	29644661	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29644661C>A	ENST00000488757.1	-	1	270	c.120G>T	c.(118-120)aaG>aaT	p.K40N	ZFP57_ENST00000376883.1_Missense_Mutation_p.K20N|ZFP57_ENST00000376881.3_Missense_Mutation_p.K20N	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	0	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K20N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TCCTCACCTTCTTCACCCGTG	0.552																																					p.K40N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G120T	6						.						131.0	123.0	125.0					6																	29644661		1967	4143	6110	29752640	SO:0001583	missense	346171	exon1			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"""Zinc fingers, C2H2-type"", ""-"""	18791	protein-coding gene	gene with protein product		612192	"""chromosome 6 open reading frame 40"", ""zinc finger protein 57 homolog (mouse)"""	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.120G>T	6.37:g.29644661C>A	ENSP00000418259:p.Lys40Asn		29752640	NM_001109809	B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP	ENST00000488757.1	37	CCDS43436.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344838	0.41498	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05382	3.45;3.68;3.68	4.11	1.36	0.22044	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	0.999994	P;P	0.51351	0.944;0.944	P;P	0.49853	0.624;0.624	T	0.42749	-0.9433	9	0.17832	T	0.49	.	5.9825	0.19415	0.0:0.6784:0.0:0.3216	.	40;20	Q9NU63-3;Q9NU63-2	.;.	N	40;20;20	ENSP00000418259:K40N;ENSP00000366078:K20N;ENSP00000366080:K20N	ENSP00000366078:K20N	K	-	3	2	ZFP57	29752640	0.000000	0.05858	0.409000	0.26459	0.837000	0.47467	-0.640000	0.05440	0.295000	0.22570	0.655000	0.94253	AAG		0.552	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355773.1	XM_294093	
HLA-F	3134	broad.mit.edu	37	6	29694860	29694860	+	IGR	SNP	C	C	T	rs57486551	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29694860C>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Missense_Mutation_p.R413C|HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.R413C(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCAAAGCCTTCGCTTTGGCTT	0.488													C|||	10	0.00199681	0.0061	0.0029	5008	,	,		17637	0.0		0.0	False		,,,				2504	0.0				p.R413C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1237T	6						.	C	CYS/ARG	7,2757		0,7,1375	221.0	250.0	240.0		1237	-1.1	0.4	6	dbSNP_129	240	0,5258		0,0,2629	no	missense	HLA-F	NM_001098479.1	180	0,7,4004	TT,TC,CC		0.0,0.2533,0.0873	possibly-damaging	413/443	29694860	7,8015	1382	2629	4011	29802839	SO:0001628	intergenic_variant	3134	exon7			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694860C>T			29802839	NM_001098479	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	CCDS43438.1	.	.	.	.	.	.	.	.	.	.	.	8.328	0.825901	0.16749	0.002533	0.0	ENSG00000204642	ENST00000449921;ENST00000259951	T	0.00922	5.54	0.62	-1.07	0.09968	.	.	.	.	.	T	0.00271	0.0008	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49390	-0.8945	9	0.87932	D	0	.	1.4855	0.02446	0.3167:0.289:0.0:0.3943	rs57486551;rs61743557	413	P30511-3	.	C	390;413	ENSP00000259951:R413C	ENSP00000259951:R413C	R	+	1	0	HLA-F	29802839	0.905000	0.30787	0.412000	0.26496	0.047000	0.14425	-0.664000	0.05292	-0.438000	0.07232	-0.436000	0.05848	CGC		0.488	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950	
HLA-G	3135	broad.mit.edu	37	6	29797599	29797599	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29797599C>A	ENST00000360323.6	+	5	926	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	HLA-G_ENST00000428701.1_Missense_Mutation_p.S301Y|HLA-G_ENST00000376818.3_Missense_Mutation_p.S209Y|HLA-G_ENST00000376815.3_Missense_Mutation_p.S117Y|HLA-G_ENST00000376828.2_Missense_Mutation_p.S306Y			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	301	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S301Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CCAGAGCAGTCTTCCCTGCCC	0.582																																					p.S301Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C902A	6						.						100.0	84.0	89.0					6																	29797599		2203	4300	6503	29905578	SO:0001583	missense	3135	exon6				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.902C>A	6.37:g.29797599C>A	ENSP00000353472:p.Ser301Tyr		29905578	NM_002127		Missense_Mutation	SNP	ENST00000360323.6	37	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535552	0.27475	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00882	5.86;5.84;5.84;5.58;5.76	2.23	1.15	0.20763	Immunoglobulin-like fold (1);	2.614290	0.02505	U	0.090914	T	0.03915	0.0110	H	0.95712	3.71	0.09310	N	1	B;D;P;D	0.76494	0.224;0.984;0.842;0.999	B;D;B;D	0.85130	0.096;0.928;0.099;0.997	T	0.29397	-1.0013	10	0.87932	D	0	.	6.2866	0.21037	0.2893:0.7106:0.0:0.0	.	117;306;209;301	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	Y	306;301;301;209;117	ENSP00000366024:S306Y;ENSP00000412927:S301Y;ENSP00000353472:S301Y;ENSP00000366014:S209Y;ENSP00000366011:S117Y	ENSP00000353472:S301Y	S	+	2	0	HLA-G	29905578	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.231000	0.09069	0.948000	0.37687	0.291000	0.19559	TCT		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
HLA-A	3105	broad.mit.edu	37	6	29911983	29911983	+	Missense_Mutation	SNP	C	C	T	rs150135282		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:29911983C>T	ENST00000396634.1	+	6	1045	c.704C>T	c.(703-705)gCg>gTg	p.A235V	HLA-A_ENST00000376806.5_Missense_Mutation_p.A235V|HLA-A_ENST00000376809.5_Missense_Mutation_p.A235V|HLA-A_ENST00000376802.2_Missense_Mutation_p.A235V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	235	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.A235V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TTCTACCCTGCGGAGATCACA	0.632									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																											p.A235V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C704T	6						.	C	VAL/ALA	0,3012		0,0,1506	52.0	68.0	62.0		704	-4.4	0.4	6	dbSNP_134	62	1,5397		0,1,2698	no	missense	HLA-A	NM_002116.7	64	0,1,4204	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging	235/366	29911983	1,8409	1506	2699	4205	30019962	SO:0001583	missense	3105	exon4	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.704C>T	6.37:g.29911983C>T	ENSP00000379873:p.Ala235Val		30019962	NM_002116	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127152	0.37533	0.0	1.85E-4	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000536480;ENST00000376809;ENST00000376802	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	3.69	-4.39	0.03611	Immunoglobulin-like (4);Immunoglobulin C1-set (8);Immunoglobulin-like fold (4);	0.407067	0.17516	U	0.171440	T	0.15003	0.0362	M	0.68317	2.08	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.999;0.997;1.0;0.997;1.0;0.995;0.997	D;P;D;P;D;P;P	0.83275	0.955;0.824;0.996;0.885;0.996;0.885;0.885	T	0.03898	-1.0994	10	0.87932	D	0	.	3.5053	0.07688	0.5454:0.2272:0.1347:0.0927	.	114;235;235;235;235;235;235	B4DVB9;P13746;Q5SRN7;P16188;Q5SRN5;P30455;P04439	.;1A11_HUMAN;.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	235;235;23;235;235	ENSP00000379873:A235V;ENSP00000366002:A235V;ENSP00000366005:A235V;ENSP00000365998:A235V	ENSP00000365998:A235V	A	+	2	0	HLA-A	30019962	0.000000	0.05858	0.397000	0.26308	0.997000	0.91878	-0.498000	0.06420	-1.153000	0.02829	0.485000	0.47835	GCG		0.632	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	
RNF39	80352	broad.mit.edu	37	6	30043369	30043369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30043369C>T	ENST00000244360.6	-	1	295	c.198G>A	c.(196-198)tgG>tgA	p.W66*	RNF39_ENST00000376751.3_Nonsense_Mutation_p.W66*	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	66						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.W66*(1)									CCATGGAAAGCCAGGATCTGG	0.701																																					p.W66X	NSCLC(8;188 360 1520 20207 31481)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G198A	6						.						17.0	20.0	19.0					6																	30043369		2200	4297	6497	30151348	SO:0001587	stop_gained	80352	exon1			AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.198G>A	6.37:g.30043369C>T	ENSP00000244360:p.Trp66*		30151348	NM_025236	A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Nonsense_Mutation	SNP	ENST00000244360.6	37	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	19.16	3.772800	0.69992	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	.	.	.	4.04	2.02	0.26589	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	6.403	0.21648	0.1487:0.6596:0.0:0.1917	.	.	.	.	X	66	.	ENSP00000244360:W66X	W	-	3	0	RNF39	30151348	0.450000	0.25697	0.004000	0.12327	0.006000	0.05464	1.728000	0.38105	0.308000	0.22923	-1.800000	0.00619	TGG		0.701	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769	
TRIM10	10107	broad.mit.edu	37	6	30122009	30122009	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30122009G>A	ENST00000449742.2	-	7	1258	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R395W(1)		ovary(1)	1						GGCCGCAGCCGAAGCTCCCCC	0.682																																					p.R395W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183T	6						.						43.0	31.0	35.0					6																	30122009		1510	2706	4216	30229988	SO:0001583	missense	10107	exon7			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1183C>T	6.37:g.30122009G>A	ENSP00000397073:p.Arg395Trp		30229988	NM_006778	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767471	0.31320	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.70631	-0.5	5.49	1.23	0.21249	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.118609	0.37715	N	0.001961	T	0.72740	0.3498	M	0.73430	2.235	0.09310	N	0.999999	D	0.76494	0.999	D	0.63381	0.914	T	0.69705	-0.5073	10	0.66056	D	0.02	.	14.0514	0.64739	0.0:0.0:0.3124:0.6876	.	395	Q9UDY6	TRI10_HUMAN	W	395	ENSP00000397073:R395W	ENSP00000365896:R395W	R	-	1	2	TRIM10	30229988	0.000000	0.05858	0.008000	0.14137	0.135000	0.20990	-1.067000	0.03451	0.325000	0.23359	0.643000	0.83706	CGG		0.682	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
TRIM10	10107	broad.mit.edu	37	6	30122254	30122254	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30122254G>T	ENST00000449742.2	-	7	1013	c.938C>A	c.(937-939)tCt>tAt	p.S313Y	TRIM10_ENST00000376704.3_Missense_Mutation_p.S313Y	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	313	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S313F(1)|p.S313Y(1)		ovary(1)	1						AGGGTCTAGAGAAATGTGAGC	0.537																																					p.S313Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C938A	6						.						53.0	65.0	61.0					6																	30122254		1508	2707	4215	30230233	SO:0001583	missense	10107	exon7			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.938C>A	6.37:g.30122254G>T	ENSP00000397073:p.Ser313Tyr		30230233	NM_006778	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759475	0.49468	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.10960	2.82;2.82	6.01	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.222920	0.32314	N	0.006273	T	0.14787	0.0357	M	0.83118	2.625	0.34943	D	0.750491	P;P	0.43542	0.81;0.773	B;P	0.48840	0.255;0.592	T	0.00915	-1.1516	10	0.72032	D	0.01	.	9.8027	0.40775	0.1552:0.0:0.8448:0.0	.	313;313	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	Y	313	ENSP00000397073:S313Y;ENSP00000365894:S313Y	ENSP00000365894:S313Y	S	-	2	0	TRIM10	30230233	0.016000	0.18221	0.863000	0.33907	0.866000	0.49608	1.546000	0.36179	2.845000	0.97973	0.643000	0.83706	TCT		0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
ABCF1	23	broad.mit.edu	37	6	30558400	30558400	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30558400C>T	ENST00000326195.8	+	25	2572	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	ABCF1_ENST00000396515.4_Silent_p.I213I|ABCF1_ENST00000376545.3_Silent_p.I782I	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	820	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.I820I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTAGCCAAATCGATGGTGACT	0.542																																					p.I820I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2460T	6						.						275.0	292.0	286.0					6																	30558400		1510	2709	4219	30666379	SO:0001819	synonymous_variant	23	exon25			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2460C>T	6.37:g.30558400C>T			30666379	NM_001025091	A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	CCDS34380.1																																																																																				0.542	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
PPP1R18	170954	broad.mit.edu	37	6	30652888	30652888	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30652888G>A	ENST00000274853.3	-	1	2784	c.908C>T	c.(907-909)gCc>gTc	p.A303V	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Missense_Mutation_p.A303V	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	303						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A303V(1)									GTTGCCTTGGGCCTCCCTTGT	0.572																																					p.A303V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C908T	6						.						88.0	107.0	101.0					6																	30652888		1431	2652	4083	30760867	SO:0001583	missense	170954	exon2			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.908C>T	6.37:g.30652888G>A	ENSP00000274853:p.Ala303Val		30760867	NM_001134870	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325176	0.05350	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.21734	1.99;1.99	5.27	-3.84	0.04256	.	1.204620	0.06234	N	0.689171	T	0.02610	0.0079	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34428	-0.9829	10	0.02654	T	1	0.5484	6.0357	0.19706	0.3447:0.3544:0.3008:0.0	.	303	Q6NYC8	PPR18_HUMAN	V	303	ENSP00000274853:A303V;ENSP00000382150:A303V	ENSP00000274853:A303V	A	-	2	0	KIAA1949	30760867	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.144000	0.10280	-0.347000	0.08299	0.561000	0.74099	GCC		0.572	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471	
PPP1R18	170954	broad.mit.edu	37	6	30653331	30653331	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30653331C>A	ENST00000274853.3	-	1	2341	c.465G>T	c.(463-465)ggG>ggT	p.G155G	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.G155G	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	155						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G155G(1)									CTCCCCCTATCCCCAGCCTCC	0.627																																					p.G155G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465T	6						.						139.0	155.0	150.0					6																	30653331		1200	2507	3707	30761310	SO:0001819	synonymous_variant	170954	exon2			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.465G>T	6.37:g.30653331C>A			30761310	NM_001134870	A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	CCDS43444.1																																																																																				0.627	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471	
MDC1	9656	broad.mit.edu	37	6	30672717	30672717	+	Missense_Mutation	SNP	C	C	T	rs200570441		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30672717C>T	ENST00000376406.3	-	10	4890	c.4243G>A	c.(4243-4245)Gag>Aag	p.E1415K	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E1151K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1415	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.E1415K(1)		breast(2)|kidney(1)|ovary(1)	4						GTGGAAGGCTCGAGCTTAGGG	0.562								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		20498	0.001		0.0	False		,,,				2504	0.0				p.E1415K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4243A	6						.						91.0	99.0	96.0					6																	30672717		2203	4300	6503	30780696	SO:0001583	missense	9656	exon10			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4243G>A	6.37:g.30672717C>T	ENSP00000365588:p.Glu1415Lys		30780696	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.041	0.989607	0.18966	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05199	3.48;3.48	3.23	0.336	0.15958	.	0.582839	0.12950	N	0.425882	T	0.00754	0.0025	N	0.08118	0	0.09310	N	1	B;B	0.28258	0.002;0.205	B;B	0.13407	0.0;0.009	T	0.47071	-0.9145	10	0.28530	T	0.3	-0.3845	3.6554	0.08218	0.2435:0.2121:0.5445:0.0	.	1151;1415	Q14676-2;Q14676	.;MDC1_HUMAN	K	1415;1151;1128;981	ENSP00000365588:E1415K;ENSP00000365587:E1151K	ENSP00000365587:E1151K	E	-	1	0	MDC1	30780696	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.144000	0.10280	-0.061000	0.13110	-0.749000	0.03505	GAG		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
DPCR1	135656	broad.mit.edu	37	6	30920189	30920189	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30920189G>T	ENST00000462446.1	+	2	3976	c.3948G>T	c.(3946-3948)gaG>gaT	p.E1316D	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.E158D			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	440						integral component of membrane (GO:0016021)		p.E158D(1)|p.E440D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGATGGGAGAGAATGATTCAT	0.488																																					p.E1316D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3948T	6						.						101.0	80.0	87.0					6																	30920189		2203	4300	6503	31028168	SO:0001583	missense	135656	exon2			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3948G>T	6.37:g.30920189G>T	ENSP00000417182:p.Glu1316Asp		31028168	NM_080870	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943381	0.34283	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.35605	1.3;1.61	3.78	-0.373	0.12516	.	.	.	.	.	T	0.24967	0.0606	L	0.52573	1.65	0.09310	N	1	D	0.64830	0.994	P	0.57846	0.828	T	0.06661	-1.0814	9	0.87932	D	0	-5.1966	4.0131	0.09631	0.3169:0.1791:0.504:0.0	.	1316	E9PEI6	.	D	1316;440;158	ENSP00000417182:E1316D;ENSP00000305948:E158D	ENSP00000305948:E158D	E	+	3	2	DPCR1	31028168	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.158000	0.10070	-0.234000	0.09782	-0.271000	0.10264	GAG		0.488	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
DPCR1	135656	broad.mit.edu	37	6	30920862	30920862	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:30920862C>A	ENST00000462446.1	+	3	4178	c.4150C>A	c.(4150-4152)Ctt>Att	p.L1384I	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.L226I			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	508						integral component of membrane (GO:0016021)		p.L508I(1)|p.L226I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GCAGCAGAATCTTGGCATGGG	0.597																																					p.L1384I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4150A	6						.						138.0	99.0	112.0					6																	30920862		2203	4300	6503	31028841	SO:0001583	missense	135656	exon3			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.4150C>A	6.37:g.30920862C>A	ENSP00000417182:p.Leu1384Ile		31028841	NM_080870	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	c	24.4	4.531531	0.85706	.	.	ENSG00000168631	ENST00000462446;ENST00000450344;ENST00000304311	T;T	0.52295	0.67;0.78	3.72	2.55	0.30701	.	.	.	.	.	T	0.43919	0.1269	L	0.54323	1.7	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.21759	-1.0236	9	0.87932	D	0	-9.5808	5.2669	0.15603	0.0:0.7718:0.0:0.2282	.	1384	E9PEI6	.	I	1384;508;226	ENSP00000417182:L1384I;ENSP00000305948:L226I	ENSP00000305948:L226I	L	+	1	0	DPCR1	31028841	0.006000	0.16342	0.169000	0.22859	0.810000	0.45777	-0.142000	0.10311	0.597000	0.29811	0.574000	0.79327	CTT		0.597	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
PSORS1C1	170679	broad.mit.edu	37	6	31084529	31084529	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31084529G>T	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Missense_Mutation_p.S288Y|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1									p.S288Y(1)		kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TTTGTCTACAGAGGTGATTGG	0.567																																					p.V288E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T863A	6						.						36.0	36.0	36.0					6																	31084529		1946	3856	5802	31192508	SO:0001627	intron_variant	1041	exon2			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1861G>T	6.37:g.31084529G>T			31192508	NM_001264	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571754	0.65765	.	.	ENSG00000204539	ENST00000376288	T	0.12569	2.67	4.76	4.76	0.60689	.	0.000000	0.50627	D	0.000117	T	0.18130	0.0435	L	0.36672	1.1	0.37584	D	0.919912	D	0.76494	0.999	D	0.85130	0.997	T	0.01440	-1.1354	10	0.87932	D	0	-10.3629	13.2439	0.60012	0.0:0.0:1.0:0.0	.	288	Q15517	CDSN_HUMAN	Y	288	ENSP00000365465:S288Y	ENSP00000365465:S288Y	S	-	2	0	CDSN	31192508	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	4.470000	0.60175	2.192000	0.70111	0.549000	0.68633	TCT		0.567	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
CCHCR1	54535	broad.mit.edu	37	6	31118749	31118749	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31118749G>A	ENST00000376266.5	-	5	807	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.R318W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R282W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R229W	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	229					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R318W(1)|p.R229W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTGCTTCCGAAGCAGCTCG	0.622																																					p.R282W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C844T	6						.						128.0	154.0	145.0					6																	31118749		1509	2707	4216	31226728	SO:0001583	missense	54535	exon5			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.685C>T	6.37:g.31118749G>A	ENSP00000365442:p.Arg229Trp		31226728	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.938693	0.52972	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	4.63	2.18	0.27775	.	1.134070	0.06794	N	0.787524	T	0.08758	0.0217	M	0.65975	2.015	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.998;0.998;1.0;1.0	D;P;P;D;D	0.64595	0.927;0.88;0.896;0.927;0.917	T	0.26608	-1.0098	10	0.72032	D	0.01	-4.8282	10.392	0.44179	0.0:0.0:0.5463:0.4537	.	229;229;229;282;318	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	W	318;229;229;229;282	ENSP00000379566:R318W;ENSP00000365442:R229W;ENSP00000379561:R229W;ENSP00000401039:R282W	ENSP00000365442:R229W	R	-	1	2	CCHCR1	31226728	0.105000	0.21958	0.030000	0.17652	0.756000	0.42949	1.672000	0.37523	0.712000	0.32039	0.274000	0.19336	CGG		0.622	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
MICB	4277	broad.mit.edu	37	6	31474903	31474903	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31474903C>T	ENST00000252229.6	+	4	797	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	MICB_ENST00000399150.3_Missense_Mutation_p.R197C|MICB_ENST00000538442.1_Missense_Mutation_p.R208C	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B									p.R240C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACTGACCTGGCGTCAGGATGG	0.582																																					p.R240C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718T	6						.						59.0	63.0	62.0					6																	31474903		1380	2619	3999	31582882	SO:0001583	missense	4277	exon4				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.718C>T	6.37:g.31474903C>T	ENSP00000252229:p.Arg240Cys		31582882	NM_005931		Missense_Mutation	SNP	ENST00000252229.6	37	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.576952	0.28092	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.14022	2.54;2.54;2.54	2.73	0.86	0.19042	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.944910	0.03628	U	0.237521	T	0.21267	0.0512	M	0.82630	2.6	0.27540	N	0.950812	D;P;P	0.89917	1.0;0.764;0.942	D;B;B	0.87578	0.998;0.359;0.396	T	0.01734	-1.1285	10	0.87932	D	0	.	2.5125	0.04660	0.2314:0.4854:0.0:0.2832	.	208;197;240	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	C	208;197;240	ENSP00000442345:R208C;ENSP00000382103:R197C;ENSP00000252229:R240C	ENSP00000252229:R240C	R	+	1	0	MICB	31582882	0.010000	0.17322	0.057000	0.19452	0.096000	0.18686	-0.414000	0.07114	0.053000	0.16036	0.305000	0.20034	CGT		0.582	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931	
DDX39B	7919	broad.mit.edu	37	6	31504294	31504294	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31504294T>G	ENST00000396172.1	-	5	1229	c.599A>C	c.(598-600)aAg>aCg	p.K200T	DDX39B_ENST00000458640.1_Missense_Mutation_p.K200T|DDX39B_ENST00000453105.2_Missense_Mutation_p.K153T|DDX39B_ENST00000376177.2_Missense_Mutation_p.K200T|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000417556.2_Missense_Mutation_p.K215T|DDX39B_ENST00000415382.2_Missense_Mutation_p.K122T	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	200	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.K200T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TTCAAGCATCTTATCACATTC	0.473																																					p.K200T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A599C	6						.						97.0	101.0	100.0					6																	31504294		1509	2709	4218	31612273	SO:0001583	missense	7919	exon5			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.599A>C	6.37:g.31504294T>G	ENSP00000379475:p.Lys200Thr		31612273	NM_004640	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373056	0.82573	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662	D;T;T;T;T;T;T;T;T;T;T	0.92397	-3.03;3.57;3.57;3.57;3.57;3.57;1.0;2.45;1.0;1.0;2.45	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.058359	0.64402	D	0.000004	D	0.91425	0.7294	L	0.37800	1.135	0.80722	D	1	P;P;D;P;D;P	0.56968	0.777;0.777;0.978;0.563;0.974;0.788	P;P;P;P;D;P	0.62955	0.721;0.798;0.786;0.497;0.909;0.456	D	0.92876	0.6319	10	0.66056	D	0.02	-22.611	13.6578	0.62348	0.0:0.0:0.0:1.0	.	122;153;122;220;200;200	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	T	200;200;200;215;122;122;200;153;200;200;200	ENSP00000365347:K200T;ENSP00000416269:K200T;ENSP00000379475:K200T;ENSP00000412582:K215T;ENSP00000392669:K122T;ENSP00000408000:K122T;ENSP00000399371:K200T;ENSP00000400328:K153T;ENSP00000392672:K200T;ENSP00000410313:K200T;ENSP00000416350:K200T	ENSP00000365347:K200T	K	-	2	0	DDX39B	31612273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.594000	0.82698	2.161000	0.67846	0.528000	0.53228	AAG		0.473	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	
DDX39B	7919	broad.mit.edu	37	6	31508301	31508301	+	Silent	SNP	C	C	T	rs371622727		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31508301C>T	ENST00000396172.1	-	2	639	c.9G>A	c.(7-9)gaG>gaA	p.E3E	DDX39B_ENST00000458640.1_Silent_p.E3E|DDX39B-AS1_ENST00000420520.1_RNA|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000453105.2_5'UTR|DDX39B_ENST00000376177.2_Silent_p.E3E|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_Silent_p.E3E|DDX39B_ENST00000449074.2_Silent_p.E3E|DDX39B_ENST00000415382.2_5'UTR	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	3					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.E3E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCACATCGTTCTCTGCCATAA	0.547																																					p.E3E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9A	6						.						71.0	65.0	67.0					6																	31508301		2203	4300	6503	31616280	SO:0001819	synonymous_variant	7919	exon2			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.9G>A	6.37:g.31508301C>T			31616280	NM_004640	B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	CCDS4697.1																																																																																				0.547	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	
ATP6V1G2	534	broad.mit.edu	37	6	31513262	31513262	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31513262G>A	ENST00000303892.5	-	3	564	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	DDX39B-AS1_ENST00000420520.1_RNA|ATP6V1G2-DDX39B_ENST00000475917.1_Intron|ATP6V1G2_ENST00000376151.4_Missense_Mutation_p.R54C|ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.R53C|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|ATP6V1G2_ENST00000483170.1_5'UTR|DDX39B-AS1_ENST00000416684.1_RNA|NFKBIL1_ENST00000376148.4_5'Flank|NFKBIL1_ENST00000376145.4_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	94					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R94C(1)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GCCAGGACACGCTCTCGGTTT	0.647																																					p.R53C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	6						.						53.0	48.0	50.0					6																	31513262		2203	4300	6503	31621241	SO:0001583	missense	534	exon3			Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.280C>T	6.37:g.31513262G>A	ENSP00000302194:p.Arg94Cys		31621241	NM_138282	B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Missense_Mutation	SNP	ENST00000303892.5	37	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651670	0.67472	.	.	ENSG00000213760	ENST00000376151;ENST00000303892;ENST00000483251;ENST00000415099	T;T;T;T	0.45668	0.89;0.92;0.92;0.92	4.81	3.0	0.34707	.	0.320980	0.25854	U	0.027879	T	0.27933	0.0688	L	0.46157	1.445	0.27837	N	0.941246	P	0.49783	0.928	P	0.53062	0.717	T	0.07424	-1.0773	10	0.62326	D	0.03	-3.7461	5.2228	0.15377	0.1871:0.1698:0.643:0.0	.	94	O95670	VATG2_HUMAN	C	54;94;53;134	ENSP00000365321:R54C;ENSP00000302194:R94C;ENSP00000419698:R53C;ENSP00000390148:R134C	ENSP00000302194:R94C	R	-	1	0	ATP6V1G2	31621241	0.995000	0.38212	0.576000	0.28549	0.992000	0.81027	1.688000	0.37690	1.245000	0.43885	0.655000	0.94253	CGT		0.647	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463	
PRRC2A	7916	broad.mit.edu	37	6	31593584	31593584	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31593584C>A	ENST00000376033.2	+	8	1009	c.775C>A	c.(775-777)Ctc>Atc	p.L259I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L259I|PRRC2A_ENST00000469577.1_3'UTR|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	259	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L259I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCCCATATCTCCCGTTCCC	0.562																																					p.L259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C775A	6						.						89.0	76.0	81.0					6																	31593584		1511	2709	4220	31701563	SO:0001583	missense	7916	exon8			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.775C>A	6.37:g.31593584C>A	ENSP00000365201:p.Leu259Ile		31701563	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902422	0.33628	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01787	4.64;4.64	4.98	4.98	0.66077	.	0.000000	0.45126	D	0.000381	T	0.02688	0.0081	L	0.48642	1.525	0.44789	D	0.997798	D	0.62365	0.991	P	0.58820	0.846	T	0.49872	-0.8893	10	0.87932	D	0	-19.3667	10.726	0.46068	0.0:0.912:0.0:0.088	.	259	P48634	PRC2A_HUMAN	I	259	ENSP00000365175:L259I;ENSP00000365201:L259I	ENSP00000365175:L259I	L	+	1	0	PRRC2A	31701563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.852000	0.48310	2.605000	0.88082	0.655000	0.94253	CTC		0.562	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
PRRC2A	7916	broad.mit.edu	37	6	31599457	31599457	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31599457C>A	ENST00000376033.2	+	16	3241	c.3007C>A	c.(3007-3009)Ctt>Att	p.L1003I	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L1003I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1003	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L1003I(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAATGGAAATCTTTCCCCTGC	0.592																																					p.L1003I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3007A	6						.						16.0	19.0	18.0					6																	31599457		1506	2709	4215	31707436	SO:0001583	missense	7916	exon16			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3007C>A	6.37:g.31599457C>A	ENSP00000365201:p.Leu1003Ile		31707436	NM_004638	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798181	0.16397	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01981	4.52;4.52	5.2	4.34	0.51931	.	0.000000	0.46145	D	0.000307	T	0.00580	0.0019	N	0.14661	0.345	0.24179	N	0.995591	B	0.25719	0.132	B	0.20184	0.028	T	0.48703	-0.9012	10	0.87932	D	0	-16.0634	6.4097	0.21684	0.2778:0.636:0.0:0.0862	.	1003	P48634	PRC2A_HUMAN	I	1003;992;1003;1003;228	ENSP00000365175:L1003I;ENSP00000365201:L1003I	ENSP00000365175:L1003I	L	+	1	0	PRRC2A	31707436	0.997000	0.39634	0.980000	0.43619	0.957000	0.61999	3.543000	0.53633	1.445000	0.47624	0.655000	0.94253	CTT		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
BAG6	7917	broad.mit.edu	37	6	31609993	31609993	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31609993C>T	ENST00000375964.6	-	15	2454	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	BAG6_ENST00000362049.6_Missense_Mutation_p.G708D|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000439687.2_Missense_Mutation_p.G582D|BAG6_ENST00000211379.5_Missense_Mutation_p.G708D|BAG6_ENST00000375976.4_Missense_Mutation_p.G708D|BAG6_ENST00000404765.2_Missense_Mutation_p.G744D	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	714					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.G708D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCCAGGGAGCCCAGCAGGGA	0.607																																					p.G708D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2123A	6						.						39.0	39.0	39.0					6																	31609993		1509	2709	4218	31717972	SO:0001583	missense	7917	exon15			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2141G>A	6.37:g.31609993C>T	ENSP00000365131:p.Gly714Asp		31717972	NM_001098534	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891288	0.91889	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.75	5.75	0.90469	.	0.048960	0.85682	D	0.000000	T	0.48554	0.1506	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.949;0.985;0.996;0.998	T	0.42682	-0.9437	10	0.59425	D	0.04	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	582;708;714;708	E7EMZ4;F8VXY4;P46379;P46379-2	.;.;BAG6_HUMAN;.	D	708;714;708;744;582;708	ENSP00000365143:G708D;ENSP00000365131:G714D;ENSP00000211379:G708D;ENSP00000384494:G744D;ENSP00000402856:G582D;ENSP00000354875:G708D	ENSP00000211379:G708D	G	-	2	0	BAG6	31717972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.307000	0.72815	2.731000	0.93534	0.650000	0.86243	GGC		0.607	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703	
APOM	55937	broad.mit.edu	37	6	31625862	31625862	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31625862A>G	ENST00000375916.3	+	6	1059	c.563A>G	c.(562-564)aAc>aGc	p.N188S	C6orf47-AS1_ENST00000422049.1_RNA|APOM_ENST00000375920.4_Missense_Mutation_p.N116S	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	188				LTPRNQEACELSNN -> VDS (in Ref. 2; CAB51604). {ECO:0000305}.	cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)	p.N188S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CTGTCCAATAACTGACCTGTA	0.517																																					p.N188S	Colon(39;129 858 13764 41453 42617)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A563G	6						.						180.0	170.0	173.0					6																	31625862		2203	4300	6503	31733841	SO:0001583	missense	55937	exon6			AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.563A>G	6.37:g.31625862A>G	ENSP00000365081:p.Asn188Ser		31733841	NM_019101	B0UX98|Q5SRP4|Q9P046|Q9UMP6	Missense_Mutation	SNP	ENST00000375916.3	37	CCDS4710.1	.	.	.	.	.	.	.	.	.	.	A	2.178	-0.388350	0.04932	.	.	ENSG00000204444	ENST00000375920;ENST00000375916	.	.	.	4.75	2.32	0.28847	Calycin-like (1);	0.870478	0.10307	N	0.690485	T	0.04137	0.0115	N	0.08118	0	0.21652	N	0.99961	B	0.02656	0.0	B	0.01281	0.0	T	0.43972	-0.9358	9	0.08179	T	0.78	-0.3355	3.8653	0.09013	0.7144:0.0:0.1003:0.1853	.	188	O95445	APOM_HUMAN	S	116;188	.	ENSP00000365081:N188S	N	+	2	0	APOM	31733841	0.878000	0.30173	0.666000	0.29783	0.045000	0.14185	1.200000	0.32247	0.314000	0.23086	-0.695000	0.03696	AAC		0.517	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3	NM_019101	
C6orf47	57827	broad.mit.edu	37	6	31627614	31627614	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31627614C>A	ENST00000375911.1	-	1	935	c.111G>T	c.(109-111)gaG>gaT	p.E37D	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	37						cytoplasm (GO:0005737)		p.E37D(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTCCTGAATTCTCCGAGGAGC	0.607																																					p.E37D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G111T	6						.						39.0	37.0	37.0					6																	31627614		1510	2708	4218	31735593	SO:0001583	missense	57827	exon1			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.111G>T	6.37:g.31627614C>A	ENSP00000365076:p.Glu37Asp		31735593	NM_021184	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	ENST00000375911.1	37	CCDS34399.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977915	0.74360	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.43688	0.94	5.44	3.68	0.42216	.	0.000000	0.47093	D	0.000242	T	0.43634	0.1256	M	0.62723	1.935	0.25802	N	0.984497	D	0.76494	0.999	D	0.80764	0.994	T	0.34403	-0.9830	10	0.87932	D	0	-19.7986	8.1562	0.31171	0.0:0.8213:0.0:0.1787	.	37	O95873	CF047_HUMAN	D	37	ENSP00000365076:E37D	ENSP00000365076:E37D	E	-	3	2	C6orf47	31735593	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.985000	0.40668	0.873000	0.35799	0.655000	0.94253	GAG		0.607	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076324.1	NM_021184	
DDAH2	23564	broad.mit.edu	37	6	31696520	31696520	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31696520G>A	ENST00000375789.2	-	2	930	c.300C>T	c.(298-300)gtC>gtT	p.V100V	DDAH2_ENST00000375787.2_Silent_p.V100V|DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Silent_p.V100V			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	100					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.V100V(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGACTCCATCGACCTTAGGAT	0.567																																					p.V100V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	6						.						58.0	56.0	57.0					6																	31696520		1510	2709	4219	31804499	SO:0001819	synonymous_variant	23564	exon3			AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.300C>T	6.37:g.31696520G>A			31804499	NM_013974	A2BEZ7	Silent	SNP	ENST00000375789.2	37	CCDS4718.1	.	.	.	.	.	.	.	.	.	.	G	8.462	0.855636	0.17106	.	.	ENSG00000213722	ENST00000437288	.	.	.	4.99	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5478	8.0	0.30291	0.3915:0.4489:0.1595:0.0	.	.	.	.	X	6	.	.	R	-	1	2	DDAH2	31804499	0.227000	0.23707	0.950000	0.38849	0.926000	0.56050	-0.834000	0.04391	-1.114000	0.02977	-0.345000	0.07892	CGA		0.567	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2		
SAPCD1	401251	broad.mit.edu	37	6	31731208	31731208	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31731208C>T	ENST00000425424.1	+	2	190	c.131C>T	c.(130-132)gCt>gTt	p.A44V	SAPCD1_ENST00000415669.2_Missense_Mutation_p.A44V|VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	44								p.A44V(1)									AGGATGCAGGCTCTGGAGAGA	0.592																																					p.A44V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C131T	6						.						75.0	76.0	76.0					6																	31731208		1511	2708	4219	31839187	SO:0001583	missense	401251	exon2				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.131C>T	6.37:g.31731208C>T	ENSP00000413372:p.Ala44Val		31839187	NM_001039651	A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	ENST00000425424.1	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.195637	0.78902	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	T;T	0.81330	-1.48;-1.48	4.41	4.41	0.53225	.	.	.	.	.	D	0.84179	0.5415	.	.	.	0.30640	N	0.756515	D	0.89917	1.0	D	0.67725	0.953	T	0.79757	-0.1669	8	0.59425	D	0.04	-3.8138	12.6963	0.57005	0.0:1.0:0.0:0.0	.	44	Q5SSQ6-2	.	V	44	ENSP00000411948:A44V;ENSP00000413372:A44V	ENSP00000411948:A44V	A	+	2	0	C6orf26	31839187	0.977000	0.34250	1.000000	0.80357	0.964000	0.63967	1.222000	0.32515	2.432000	0.82394	0.655000	0.94253	GCT		0.592	SAPCD1-203	KNOWN	basic	protein_coding	protein_coding		NM_001039651	
C2	717	broad.mit.edu	37	6	31895546	31895546	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31895546T>C	ENST00000299367.5	+	1	293	c.17T>C	c.(16-18)gTt>gCt	p.V6A	CFB_ENST00000556679.1_Missense_Mutation_p.V6A|CFB_ENST00000477310.1_Missense_Mutation_p.V6A|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.V6A|CFB_ENST00000456570.1_Missense_Mutation_p.V6A|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Missense_Mutation_p.V6A	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	6					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V6A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCACTGATGGTTCTTTTTTGC	0.582																																					p.V6A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T17C	6						.						228.0	270.0	255.0					6																	31895546		1511	2709	4220	32003525	SO:0001583	missense	717	exon1				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.17T>C	6.37:g.31895546T>C	ENSP00000299367:p.Val6Ala		32003525	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.953|8.953	0.968718|0.968718	0.18659|0.18659	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000413154;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	.|T;T;D;T;T;D;D;T	.|0.88975	.|1.45;-1.4;-2.45;1.26;1.27;-1.52;-1.52;-1.35	5.75|5.75	2.91|2.91	0.33838|0.33838	.|.	.|0.425540	.|0.17372	.|N	.|0.176622	T|T	0.52885|0.52885	0.1762|0.1762	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.001;0.001	T|T	0.48055|0.48055	-0.9068|-0.9068	4|9	.|0.07813	.|T	.|0.8	-0.3984|-0.3984	5.6526|5.6526	0.17625|0.17625	0.0:0.6453:0.0:0.3547|0.0:0.6453:0.0:0.3547	.|.	.|6;6;6;6;6	.|B4E1Z4;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;CO2_HUMAN;.	L|A	3|6	.|ENSP00000403325:V6A;ENSP00000299367:V6A;ENSP00000395683:V6A;ENSP00000391354:V6A;ENSP00000406190:V6A;ENSP00000451848:V6A;ENSP00000410815:V6A;ENSP00000418996:V6A	.|ENSP00000299367:V6A	F|V	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32003525|32003525	0.037000|0.037000	0.19845|0.19845	0.024000|0.024000	0.17045|0.17045	0.716000|0.716000	0.41182|0.41182	-0.002000|-0.002000	0.12924|0.12924	0.719000|0.719000	0.32188|0.32188	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.582	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
C2	717	broad.mit.edu	37	6	31905145	31905145	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31905145C>A	ENST00000299367.5	+	8	1314	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	CFB_ENST00000556679.1_Silent_p.V193V|CFB_ENST00000477310.1_Silent_p.V164V|C2_ENST00000469372.1_Silent_p.V100V|CFB_ENST00000456570.1_Silent_p.V193V|C2_ENST00000452323.2_Silent_p.V132V|C2_ENST00000442278.2_Silent_p.V214V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	346	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V346V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TAAACAGTGTCTATCTCATGA	0.478																																					p.V214V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642A	6						.						201.0	196.0	198.0					6																	31905145		1511	2709	4220	32013124	SO:0001819	synonymous_variant	717	exon6				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1038C>A	6.37:g.31905145C>A			32013124	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	1.646	-0.515179	0.04200	.	.	ENSG00000166278	ENST00000383177	.	.	.	4.97	0.925	0.19424	.	.	.	.	.	T	0.35278	0.0926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20140	-1.0284	4	.	.	.	-30.3314	4.9528	0.14023	0.1459:0.604:0.0:0.2501	.	.	.	.	Y	120	.	.	S	+	2	0	C2	32013124	0.919000	0.31177	0.260000	0.24451	0.148000	0.21650	0.000000	0.12993	0.277000	0.22141	0.544000	0.68410	TCT		0.478	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
C2	717	broad.mit.edu	37	6	31910803	31910803	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31910803G>T	ENST00000299367.5	+	10	1563	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	CFB_ENST00000556679.1_Missense_Mutation_p.K276N|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.K183N|CFB_ENST00000456570.1_Missense_Mutation_p.K276N|C2_ENST00000452323.2_Missense_Mutation_p.K215N|CFB_ENST00000425368.2_5'Flank|C2_ENST00000442278.2_Missense_Mutation_p.K297N	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	429	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K429N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TAGGGTCCAAGAAGGATGGTG	0.537																																					p.K297N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G891T	6						.						311.0	321.0	317.0					6																	31910803		1511	2709	4220	32018782	SO:0001583	missense	717	exon8				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1287G>T	6.37:g.31910803G>T	ENSP00000299367:p.Lys429Asn		32018782	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094810|4.094810	0.76870|0.76870	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570|ENST00000383177	D;D;D;D;D;D;D|.	0.83755|.	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76|.	5.8|5.8	4.04|4.04	0.47022|0.47022	von Willebrand factor, type A (3);|.	0.000000|.	0.41294|.	D|.	0.000915|.	T|T	0.43033|0.43033	0.1229|0.1229	M|M	0.64080|0.64080	1.96|1.96	0.33369|0.33369	D|D	0.573329|0.573329	D;D;D;D;D;D;D;P;P|.	0.63046|.	0.976;0.977;0.992;0.987;0.987;0.984;0.977;0.921;0.952|.	P;P;P;P;P;P;P;P;P|.	0.57911|.	0.62;0.763;0.804;0.763;0.829;0.65;0.763;0.694;0.629|.	T|T	0.40664|0.40664	-0.9551|-0.9551	10|5	0.72032|.	D|.	0.01|.	-21.662|-21.662	9.9729|9.9729	0.41765|0.41765	0.1587:0.0:0.8413:0.0|0.1587:0.0:0.8413:0.0	.|.	276;400;215;183;297;114;297;429;216|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	N|I	183;216;216;215;429;114;297;276;276|203	ENSP00000418923:K183N;ENSP00000417482:K216N;ENSP00000392322:K215N;ENSP00000299367:K429N;ENSP00000395683:K297N;ENSP00000451848:K276N;ENSP00000410815:K276N|.	ENSP00000299367:K429N|.	K|R	+|+	3|2	2|0	CFB;C2;XXbac-BPG116M5.17|C2	32018782|32018782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	3.267000|3.267000	0.51577|0.51577	0.820000|0.820000	0.34516|0.34516	0.455000|0.455000	0.32223|0.32223	AAG|AGA		0.537	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
C2	717	broad.mit.edu	37	6	31911277	31911277	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31911277G>A	ENST00000299367.5	+	12	1816	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	CFB_ENST00000556679.1_Missense_Mutation_p.D361N|CFB_ENST00000477310.1_Missense_Mutation_p.D285N|C2_ENST00000469372.1_Missense_Mutation_p.D268N|CFB_ENST00000456570.1_Missense_Mutation_p.D361N|C2_ENST00000452323.2_Missense_Mutation_p.D300N|CFB_ENST00000425368.2_5'Flank|C2_ENST00000442278.2_Missense_Mutation_p.D382N	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	514	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.D514N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CGATGGCAACGACCACTCCCT	0.627																																					p.D382N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144A	6						.						92.0	105.0	100.0					6																	31911277		1510	2709	4219	32019256	SO:0001583	missense	717	exon10				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1540G>A	6.37:g.31911277G>A	ENSP00000299367:p.Asp514Asn		32019256	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572499	0.45798	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.11	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.352908	0.20603	N	0.089119	T	0.07098	0.0180	L	0.31664	0.95	0.26837	N	0.968463	B;B;B;B;B;B;B;B;B	0.17667	0.003;0.018;0.004;0.023;0.003;0.008;0.005;0.001;0.018	B;B;B;B;B;B;B;B;B	0.13407	0.002;0.008;0.003;0.006;0.002;0.005;0.008;0.001;0.009	T	0.35101	-0.9802	10	0.16896	T	0.51	-7.4961	8.9805	0.35961	0.254:0.0:0.746:0.0	.	361;485;300;268;382;199;382;514;301	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.;.;.;.;.;.;.;CO2_HUMAN;.	N	268;301;301;300;514;199;382;361;361;285	ENSP00000418923:D268N;ENSP00000417482:D301N;ENSP00000392322:D300N;ENSP00000299367:D514N;ENSP00000395683:D382N;ENSP00000451848:D361N;ENSP00000410815:D361N;ENSP00000418996:D285N	ENSP00000299367:D514N	D	+	1	0	CFB;C2;XXbac-BPG116M5.17	32019256	0.542000	0.26426	0.881000	0.34555	0.291000	0.27294	1.005000	0.29834	0.907000	0.36646	0.563000	0.77884	GAC		0.627	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
C2	717	broad.mit.edu	37	6	31911991	31911991	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31911991G>T	ENST00000299367.5	+	15	2166	c.1890G>T	c.(1888-1890)aaG>aaT	p.K630N	CFB_ENST00000556679.1_Missense_Mutation_p.K477N|CFB_ENST00000477310.1_Missense_Mutation_p.K401N|C2_ENST00000469372.1_Missense_Mutation_p.K384N|CFB_ENST00000456570.1_Missense_Mutation_p.K477N|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.K416N|CFB_ENST00000425368.2_5'Flank|C2_ENST00000442278.2_Missense_Mutation_p.K498N	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	630	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.K630N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TTAACCTTAAGATGGGAGTGG	0.498																																					p.K498N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1494T	6						.						85.0	79.0	81.0					6																	31911991		1510	2709	4219	32019970	SO:0001583	missense	717	exon13				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1890G>T	6.37:g.31911991G>T	ENSP00000299367:p.Lys630Asn		32019970	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.71|17.71	3.457274|3.457274	0.63401|0.63401	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	T;T;T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.205306|.	0.24470|.	N|.	0.038254|.	T|T	0.47469|0.47469	0.1447|0.1447	M|M	0.70903|0.70903	2.155|2.155	0.26195|0.26195	N|N	0.979533|0.979533	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.99;0.999;1.0;0.999;0.999;0.999;0.999;0.976;0.991|.	D;D;D;D;D;D;D;D;D|.	0.79784|.	0.93;0.993;0.99;0.993;0.993;0.989;0.993;0.959;0.936|.	T|T	0.43877|0.43877	-0.9364|-0.9364	10|5	0.87932|.	D|.	0|.	-16.7601|-16.7601	14.4085|14.4085	0.67099|0.67099	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	477;601;416;384;498;315;498;630;417|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	N|I	384;417;416;630;315;498;477;477;401|404	ENSP00000418923:K384N;ENSP00000417482:K417N;ENSP00000392322:K416N;ENSP00000299367:K630N;ENSP00000395683:K498N;ENSP00000451848:K477N;ENSP00000410815:K477N;ENSP00000418996:K401N|.	ENSP00000299367:K630N|.	K|R	+|+	3|2	2|0	CFB;C2;XXbac-BPG116M5.17|C2	32019970|32019970	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.427000|0.427000	0.31564|0.31564	4.868000|4.868000	0.63021|0.63021	2.493000|2.493000	0.84123|0.84123	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.498	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
CFB	629	broad.mit.edu	37	6	31914358	31914358	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31914358G>T	ENST00000425368.2	+	2	786	c.273G>T	c.(271-273)aaG>aaT	p.K91N	CFB_ENST00000556679.1_Missense_Mutation_p.K593N|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.K593N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	91	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.K91N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGACCAAAAGACTGTCAGGA	0.567																																					p.K91N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G273T	6						.						67.0	51.0	57.0					6																	31914358		1511	2708	4219	32022337	SO:0001583	missense	629	exon2			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.273G>T	6.37:g.31914358G>T	ENSP00000416561:p.Lys91Asn		32022337	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830236	0.16749	.	.	ENSG00000243649;ENSG00000243649;ENSG00000243649;ENSG00000244255	ENST00000556679;ENST00000475617;ENST00000425368;ENST00000456570	D;T;T;D	0.82433	-1.61;2.4;-1.48;-1.61	5.17	3.39	0.38822	Sushi/SCR/CCP (1);	0.120167	0.37623	N	0.002007	T	0.77955	0.4208	M	0.65975	2.015	0.37439	D	0.914325	D;B;B;B	0.67145	0.996;0.242;0.008;0.047	P;B;B;B	0.54544	0.755;0.032;0.002;0.006	T	0.74919	-0.3500	10	0.26408	T	0.33	-7.2198	8.1055	0.30883	0.1875:0.0:0.8125:0.0	.	91;593;91;91	B4E1Z1;B4E1Z4;P00751;P00751-2	.;.;CFAB_HUMAN;.	N	593;91;91;593	ENSP00000451848:K593N;ENSP00000420090:K91N;ENSP00000416561:K91N;ENSP00000410815:K593N	ENSP00000416561:K91N	K	+	3	2	CFB;XXbac-BPG116M5.17	32022337	0.996000	0.38824	0.185000	0.23176	0.104000	0.19210	2.751000	0.47508	0.598000	0.29829	-0.671000	0.03813	AAG		0.567	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
CFB	629	broad.mit.edu	37	6	31919009	31919009	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31919009G>T	ENST00000425368.2	+	15	2457	c.1944G>T	c.(1942-1944)aaG>aaT	p.K648N	CFB_ENST00000556679.1_Missense_Mutation_p.K1150N|CFB_ENST00000477310.1_Missense_Mutation_p.K999N|CFB_ENST00000456570.1_Missense_Mutation_p.K1150N	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	648	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.K648N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTACATCAAGAATGGGGATA	0.502																																					p.K648N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1944T	6						.						83.0	83.0	83.0					6																	31919009		1511	2709	4220	32026988	SO:0001583	missense	629	exon15			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1944G>T	6.37:g.31919009G>T	ENSP00000416561:p.Lys648Asn		32026988	NM_001710	B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.60|18.60	3.659782|3.659782	0.67586|0.67586	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	T;T;T;T|.	0.29917|.	1.55;1.55;1.55;1.55|.	5.53|5.53	4.66|4.66	0.58398|0.58398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.49305|.	D|.	0.000144|.	T|T	0.38585|0.38585	0.1046|0.1046	L|L	0.35288|0.35288	1.05|1.05	0.51482|0.51482	D|D	0.999926|0.999926	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.30031|0.30031	-0.9992|-0.9992	10|5	0.72032|.	D|.	0.01|.	-30.1475|-30.1475	11.505|11.505	0.50461|0.50461	0.0843:0.0:0.9157:0.0|0.0843:0.0:0.9157:0.0	.|.	1150;648|.	B4E1Z4;P00751|.	.;CFAB_HUMAN|.	N|I	1150;648;1150;999|189	ENSP00000451848:K1150N;ENSP00000416561:K648N;ENSP00000410815:K1150N;ENSP00000418996:K999N|.	ENSP00000416561:K648N|.	K|R	+|+	3|2	2|0	CFB;XXbac-BPG116M5.17|CFB	32026988|32026988	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.891000|0.891000	0.51852|0.51852	0.828000|0.828000	0.27435|0.27435	1.339000|1.339000	0.45563|0.45563	-0.218000|-0.218000	0.12543|0.12543	AAG|AGA		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710	
C4A	720	broad.mit.edu	37	6	31964244	31964244	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31964244G>T	ENST00000428956.2	+	28	3627	c.3543G>T	c.(3541-3543)gaG>gaT	p.E1181D	C4A_ENST00000498271.1_Missense_Mutation_p.E1181D	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1181					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTTTGGGGGAGAAAGCAAGTG	0.597																																					p.E1181D												.	.	0			c.G3543T	6						.						79.0	91.0	87.0					6																	31964244		1553	3539	5092	32072223	SO:0001583	missense	721	exon28			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3543G>T	6.37:g.31964244G>T	ENSP00000396688:p.Glu1181Asp		32072223	NM_007293	A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	g	1.815	-0.473632	0.04414	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37752	1.18;1.18	3.53	-0.96	0.10340	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	2.012690	0.01810	N	0.033414	T	0.10895	0.0266	L	0.40543	1.245	0.09310	N	1	B;B	0.17465	0.022;0.002	B;B	0.29524	0.103;0.044	T	0.14117	-1.0484	10	0.18710	T	0.47	.	3.2258	0.06731	0.4116:0.217:0.3714:0.0	.	1181;1181	A6H8M8;P0C0L4	.;CO4A_HUMAN	D	1181	ENSP00000396688:E1181D;ENSP00000420212:E1181D	ENSP00000396688:E1181D	E	+	3	2	C4A	32072223	0.000000	0.05858	0.039000	0.18376	0.521000	0.34408	-0.926000	0.03988	0.128000	0.18479	0.423000	0.28283	GAG		0.597	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293	
TNXB	7148	broad.mit.edu	37	6	32015689	32015689	+	Silent	SNP	G	G	A	rs146798373	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32015689G>A	ENST00000375244.3	-	30	10347	c.10146C>T	c.(10144-10146)ttC>ttT	p.F3382F	TNXB_ENST00000375247.2_Silent_p.F3380F|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3427	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.F3447F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGAAGGAGTCGAATTCGCCCT	0.652													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19561	0.001		0.0	False		,,,				2504	0.0				p.F3380F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10140T	6						.						46.0	56.0	53.0					6																	32015689		1466	2666	4132	32123667	SO:0001819	synonymous_variant	7148	exon30			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10146C>T	6.37:g.32015689G>A			32123667	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
TNXB	7148	broad.mit.edu	37	6	32037419	32037419	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32037419C>G	ENST00000375244.3	-	15	5699	c.5498G>C	c.(5497-5499)gGc>gCc	p.G1833A	TNXB_ENST00000375247.2_Missense_Mutation_p.G1833A			P22105	TENX_HUMAN	tenascin XB	1915	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.G1920A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGTCCAGGCCCGGCACGCT	0.662																																					p.G1833A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5498C	6						.						23.0	29.0	27.0					6																	32037419		2173	4279	6452	32145397	SO:0001583	missense	7148	exon15			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5498G>C	6.37:g.32037419C>G	ENSP00000364393:p.Gly1833Ala		32145397	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	C	13.90	2.376290	0.42105	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.07327	3.2;3.2	5.5	3.72	0.42706	.	0.446584	0.19087	N	0.123091	T	0.09247	0.0228	H	0.94847	3.59	0.21416	N	0.999697	P	0.48162	0.906	P	0.47134	0.539	T	0.35871	-0.9771	10	0.16896	T	0.51	.	7.5744	0.27926	0.0:0.7379:0.0:0.2621	.	1833	P22105-3	.	A	1833	ENSP00000364393:G1833A;ENSP00000364396:G1833A	ENSP00000364393:G1833A	G	-	2	0	TNXB	32145397	0.817000	0.29147	0.974000	0.42286	0.592000	0.36648	0.629000	0.24538	0.700000	0.31782	-0.218000	0.12543	GGC		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
FKBPL	63943	broad.mit.edu	37	6	32096866	32096866	+	Missense_Mutation	SNP	C	C	T	rs368026293		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32096866C>T	ENST00000375156.3	-	2	962	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	231					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R231Q(1)									TCCATAGCATCGGGCAGCTCC	0.587																																					p.R231Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692A	6						.	C	GLN/ARG	0,4406		0,0,2203	66.0	72.0	70.0		692	4.4	1.0	6		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	FKBPL	NM_022110.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	231/350	32096866	1,13005	2203	4300	6503	32204844	SO:0001583	missense	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.692G>A	6.37:g.32096866C>T	ENSP00000364298:p.Arg231Gln		32204844	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600807	0.66332	0.0	1.16E-4	ENSG00000204315	ENST00000375156	T	0.58940	0.3	5.24	4.38	0.52667	Tetratricopeptide-like helical (1);	0.787900	0.10933	N	0.618171	T	0.25306	0.0615	N	0.21142	0.635	0.33192	D	0.551022	P	0.40180	0.705	B	0.38954	0.286	T	0.01839	-1.1263	10	0.16896	T	0.51	-4.454	11.7339	0.51755	0.0:0.9152:0.0:0.0848	.	231	Q9UIM3	FKBPL_HUMAN	Q	231	ENSP00000364298:R231Q	ENSP00000364298:R231Q	R	-	2	0	FKBPL	32204844	0.913000	0.31002	1.000000	0.80357	0.949000	0.60115	1.952000	0.40343	1.444000	0.47605	0.561000	0.74099	CGA		0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
PPT2	9374	broad.mit.edu	37	6	32130687	32130687	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32130687G>A	ENST00000324816.6	+	9	1437	c.869G>A	c.(868-870)cGt>cAt	p.R290H	EGFL8_ENST00000333845.6_5'Flank|PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H|PPT2_ENST00000445576.2_Intron|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2-EGFL8_ENST00000453656.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	290					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.R296H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACTCCAACCGTACCCTTTAT	0.552																																					p.R296H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G887A	6						.						139.0	150.0	146.0					6																	32130687		2203	4300	6503	32238665	SO:0001583	missense	9374	exon9			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.869G>A	6.37:g.32130687G>A	ENSP00000320528:p.Arg290His		32238665	NM_138717	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646223	0.47258	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000324816;ENST00000375137;ENST00000375143	D;D;D;D;D	0.91686	-2.89;-2.88;-2.88;-2.88;-2.88	5.63	2.79	0.32731	.	0.354936	0.30260	N	0.010040	T	0.62998	0.2474	N	0.02539	-0.55	0.80722	D	1	B;B	0.19706	0.038;0.038	B;B	0.06405	0.002;0.002	T	0.56739	-0.7929	10	0.37606	T	0.19	-7.5675	6.5205	0.22272	0.0844:0.0:0.5831:0.3325	.	290;296	Q9UMR5;B0S872	PPT2_HUMAN;.	H	296;290;290;290;290	ENSP00000354608:R296H;ENSP00000378894:R290H;ENSP00000320528:R290H;ENSP00000364279:R290H;ENSP00000364285:R290H	ENSP00000320528:R290H	R	+	2	0	PPT2	32238665	0.791000	0.28800	0.957000	0.39632	0.983000	0.72400	1.338000	0.33873	0.281000	0.22233	0.655000	0.94253	CGT		0.552	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	
NOTCH4	4855	broad.mit.edu	37	6	32166818	32166818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32166818G>A	ENST00000375023.3	-	24	4558	c.4420C>T	c.(4420-4422)Cga>Tga	p.R1474*	NOTCH4_ENST00000443903.2_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1474	Poly-Arg.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R1474*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTCGGCGTCGACGCCGGATG	0.682																																					p.R1474W												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4420T	6						.						48.0	60.0	56.0					6																	32166818		1508	2707	4215	32274796	SO:0001587	stop_gained	4855	exon24				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4420C>T	6.37:g.32166818G>A	ENSP00000364163:p.Arg1474*		32274796	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	42	9.476191	0.99181	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.9	1.85	0.25348	.	0.000000	0.38492	N	0.001677	.	.	.	.	.	.	0.45183	D	0.998194	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0752	0.53638	0.0:0.0:0.5468:0.4531	.	.	.	.	X	1474	.	ENSP00000364163:R1474X	R	-	1	2	NOTCH4	32274796	0.979000	0.34478	0.018000	0.16275	0.231000	0.25187	2.953000	0.49105	0.725000	0.32318	0.555000	0.69702	CGA		0.682	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
NOTCH4	4855	broad.mit.edu	37	6	32183113	32183113	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32183113C>T	ENST00000375023.3	-	12	2049	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	637	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.K637K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TACATATCTGCTTGGGCTGGC	0.577																																					p.Q637Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1911A	6						.						99.0	70.0	80.0					6																	32183113		1511	2709	4220	32291091	SO:0001819	synonymous_variant	4855	exon12				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1911G>A	6.37:g.32183113C>T			32291091	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1																																																																																				0.577	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
NOTCH4	4855	broad.mit.edu	37	6	32184750	32184750	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32184750G>T	ENST00000375023.3	-	11	1971	c.1833C>A	c.(1831-1833)ttC>ttA	p.F611L	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	611	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.F611L(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGCAAAAGAAGGCTCCTG	0.537																																					p.G611G												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.A1833A	6						.						102.0	85.0	91.0					6																	32184750		1511	2709	4220	32292728	SO:0001583	missense	4855	exon11				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1833C>A	6.37:g.32184750G>T	ENSP00000364163:p.Phe611Leu		32292728	NM_004557	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167467	0.78339	.	.	ENSG00000204301	ENST00000375023	D	0.93488	-3.23	4.07	3.18	0.36537	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42548	D	0.000688	D	0.95884	0.8660	M	0.88241	2.94	0.80722	D	1	D;D	0.62365	0.99;0.991	D;D	0.83275	0.996;0.928	D	0.95755	0.8795	10	0.72032	D	0.01	.	10.0793	0.42379	0.1024:0.0:0.8976:0.0	.	611;611	Q6P3V5;Q99466	.;NOTC4_HUMAN	L	611	ENSP00000364163:F611L	ENSP00000364163:F611L	F	-	3	2	NOTCH4	32292728	0.996000	0.38824	0.445000	0.26908	0.992000	0.81027	3.465000	0.53064	1.018000	0.39521	0.563000	0.77884	TTC		0.537	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
C6orf10	10665	broad.mit.edu	37	6	32260813	32260813	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32260813G>A	ENST00000447241.2	-	23	1809	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	C6orf10_ENST00000375015.4_Missense_Mutation_p.S545L|C6orf10_ENST00000527965.1_Missense_Mutation_p.S530L|C6orf10_ENST00000375007.4_Missense_Mutation_p.S544L|C6orf10_ENST00000533191.1_Missense_Mutation_p.S544L|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	546	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S546L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CGCCCTTTTCGAGCCTTTTGA	0.333																																					p.Y546F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1637T	6						.						122.0	131.0	128.0					6																	32260813		1511	2709	4220	32368791	SO:0001583	missense	10665	exon23			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1637C>T	6.37:g.32260813G>A	ENSP00000415517:p.Ser546Leu		32368791	NM_006781	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726286	0.30593	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.03717	3.84;3.84;3.83;3.84;3.84	3.44	1.06	0.20224	.	.	.	.	.	T	0.03305	0.0096	L	0.47716	1.5	0.09310	N	1	D	0.71674	0.998	D	0.72982	0.979	T	0.40664	-0.9551	9	0.32370	T	0.25	.	3.9093	0.09196	0.1856:0.0:0.3124:0.502	.	546	Q5SRN2	CF010_HUMAN	L	546;545;544;530;544;543;543	ENSP00000415517:S546L;ENSP00000364155:S545L;ENSP00000431199:S544L;ENSP00000435103:S530L;ENSP00000364146:S544L	ENSP00000303292:S543L	S	-	2	0	C6orf10	32368791	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.992000	0.29667	0.216000	0.20781	-0.262000	0.10625	TCG		0.333	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	
C6orf10	10665	broad.mit.edu	37	6	32317571	32317571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32317571C>A	ENST00000447241.2	-	9	467	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	C6orf10_ENST00000375015.4_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000375007.4_Nonsense_Mutation_p.E97*|C6orf10_ENST00000533191.1_Intron|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	99						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E99*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AGAATGAGTTCTGTTTGTCCC	0.368																																					p.E99X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G295T	6						.						159.0	153.0	155.0					6																	32317571		1511	2709	4220	32425549	SO:0001587	stop_gained	10665	exon9			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.295G>T	6.37:g.32317571C>A	ENSP00000415517:p.Glu99*		32425549	NM_006781	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Nonsense_Mutation	SNP	ENST00000447241.2	37	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780899	0.70222	.	.	ENSG00000204296	ENST00000447241;ENST00000375007;ENST00000534588	.	.	.	3.65	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.4774	0.11750	0.0:0.2509:0.3212:0.4279	.	.	.	.	X	99;97;99	.	.	E	-	1	0	C6orf10	32425549	0.000000	0.05858	0.000000	0.03702	0.460000	0.32559	-0.776000	0.04674	-0.659000	0.05359	-0.182000	0.12963	GAA		0.368	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	
BTNL2	56244	broad.mit.edu	37	6	32364160	32364160	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32364160G>T	ENST00000374993.1	-	5	733	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	BTNL2_ENST00000374995.3_Missense_Mutation_p.S151Y|BTNL2_ENST00000540315.1_Missense_Mutation_p.S35Y|BTNL2_ENST00000454136.3_Missense_Mutation_p.S245Y|BTNL2_ENST00000544175.1_5'UTR|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000429232.2_Missense_Mutation_p.S152Y|BTNL2_ENST00000414363.1_Missense_Mutation_p.S35Y	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	245	Ig-like V-type 3.					integral component of membrane (GO:0016021)		p.S245Y(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CACTTTTAAAGAAGCTGTTAA	0.428																																					p.S245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C734A	6						.						40.0	41.0	41.0					6																	32364160		1510	2708	4218	32472138	SO:0001583	missense	56244	exon5			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.734C>A	6.37:g.32364160G>T	ENSP00000364132:p.Ser245Tyr		32472138	NM_019602	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	g	9.240	1.038089	0.19669	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000429232	T;T;T;T;T	0.10192	4.09;4.23;3.68;4.25;2.9	5.16	-0.193	0.13244	Immunoglobulin-like (1);	0.149392	0.31884	N	0.006905	T	0.11623	0.0283	M	0.75264	2.295	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.961;0.982	T	0.06391	-1.0829	10	0.59425	D	0.04	.	2.5114	0.04658	0.2395:0.1221:0.5013:0.1371	.	35;245	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	Y	245;151;35;245;35;152	ENSP00000364134:S151Y;ENSP00000390512:S35Y;ENSP00000364132:S245Y;ENSP00000444714:S35Y;ENSP00000411166:S152Y	ENSP00000364132:S245Y	S	-	2	0	BTNL2	32472138	0.272000	0.24172	0.147000	0.22382	0.081000	0.17604	1.477000	0.35431	0.096000	0.17463	-0.878000	0.02970	TCT		0.428	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
HLA-DRA	3122	broad.mit.edu	37	6	32411076	32411076	+	Missense_Mutation	SNP	G	G	A	rs138462914		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32411076G>A	ENST00000374982.5	+	3	441	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R148Q			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	148	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.R148Q(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ACGTGGCTTCGAAATGGAAAA	0.527									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		21476	0.0		0.001	False		,,,				2504	0.0				p.R148Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	6						.	G	GLN/ARG	0,3022		0,0,1511	150.0	132.0	138.0		443	-6.2	0.0	6	dbSNP_134	138	1,5417		0,1,2708	yes	missense	HLA-DRA	NM_019111.4	43	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	benign	148/255	32411076	1,8439	1511	2709	4220	32519054	SO:0001583	missense	3122	exon3	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.368G>A	6.37:g.32411076G>A	ENSP00000364121:p.Arg123Gln		32519054	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	12.97	2.098481	0.37048	0.0	1.85E-4	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.00626	6.13;6.13	5.59	-6.22	0.02058	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.686460	0.02872	N	0.131730	T	0.00468	0.0015	M	0.75150	2.29	0.09310	N	1	B;B	0.16166	0.016;0.009	B;B	0.21360	0.034;0.004	T	0.33548	-0.9864	10	0.48119	T	0.1	.	14.6496	0.68786	0.4293:0.0:0.5707:0.0	.	123;148	Q30118;P01903	.;DRA_HUMAN	Q	148;123	ENSP00000378786:R148Q;ENSP00000364121:R123Q	ENSP00000364121:R123Q	R	+	2	0	HLA-DRA	32519054	0.000000	0.05858	0.002000	0.10522	0.649000	0.38597	-0.189000	0.09629	-1.318000	0.02289	-1.006000	0.02489	CGA		0.527	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
HLA-DRB5	3127	broad.mit.edu	37	6	32487369	32487369	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32487369G>T	ENST00000374975.3	-	3	492	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5									p.L144M(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GAGCAGACCAGGAGGTTGTGG	0.532																																					p.L144M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430A	6						.						38.0	45.0	43.0					6																	32487369		1910	4097	6007	32595347	SO:0001583	missense	3127	exon3				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.430C>A	6.37:g.32487369G>T	ENSP00000364114:p.Leu144Met		32595347	NM_002125		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	16.28	3.079278	0.55753	.	.	ENSG00000198502	ENST00000374975	T	0.35236	1.32	4.69	3.82	0.43975	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.248014	0.34338	N	0.004042	T	0.61085	0.2319	H	0.97611	4.04	0.39383	D	0.966285	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.69383	-0.5160	10	0.87932	D	0	.	6.0755	0.19913	0.0958:0.0:0.7182:0.186	.	71;144	Q29973;Q30154	.;DRB5_HUMAN	M	144	ENSP00000364114:L144M	ENSP00000364114:L144M	L	-	1	2	HLA-DRB5	32595347	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.119000	0.31258	1.354000	0.45846	0.556000	0.70494	CTG		0.532	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
HLA-DRB1	3123	broad.mit.edu	37	6	32549556	32549556	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32549556G>T	ENST00000360004.5	-	3	535	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	144	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)		p.L144M(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GAGCAGACCAGGAGGTTGTGG	0.522										Multiple Myeloma(14;0.17)																											p.S144T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T430A	6						.						100.0	121.0	114.0					6																	32549556		1511	2709	4220	32657534	SO:0001583	missense	3123	exon3			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.430C>A	6.37:g.32549556G>T	ENSP00000353099:p.Leu144Met		32657534	NM_002124	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939495	0.52972	.	.	ENSG00000196126	ENST00000360004	T	0.21361	2.01	3.87	3.87	0.44632	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.248014	0.34338	N	0.004042	T	0.50000	0.1590	H	0.97682	4.055	0.38849	D	0.956237	D	0.89917	1.0	D	0.97110	1.0	T	0.64664	-0.6354	10	0.87932	D	0	.	9.1917	0.37204	0.0:0.0:0.7829:0.2171	.	144	P01911	2B1F_HUMAN	M	144	ENSP00000353099:L144M	ENSP00000353099:L144M	L	-	1	2	HLA-DRB1	32657534	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.020000	0.30027	1.883000	0.54544	0.453000	0.30009	CTG		0.522	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	
HLA-DQA2	3118	broad.mit.edu	37	6	32713027	32713027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32713027C>A	ENST00000374940.3	+	2	276	c.174C>A	c.(172-174)ttC>ttA	p.F58L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	58	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)	p.F58L(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	ACGAGGAGTTCTATGTGGACC	0.488																																					p.F58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C174A	6						.						188.0	181.0	184.0					6																	32713027		1511	2709	4220	32821005	SO:0001583	missense	3118	exon2				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.174C>A	6.37:g.32713027C>A	ENSP00000364076:p.Phe58Leu		32821005	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	9.272	1.045915	0.19748	.	.	ENSG00000237541	ENST00000374940	T	0.01422	4.91	3.2	2.31	0.28768	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.285984	0.35555	U	0.003140	T	0.00967	0.0032	M	0.80508	2.5	0.28286	N	0.923772	B	0.27997	0.197	B	0.30251	0.113	T	0.38929	-0.9638	10	0.72032	D	0.01	.	6.2146	0.20648	0.0:0.8523:0.0:0.1477	.	58	P01906	DQA2_HUMAN	L	58	ENSP00000364076:F58L	ENSP00000364076:F58L	F	+	3	2	HLA-DQA2	32821005	0.724000	0.28038	0.638000	0.29380	0.007000	0.05969	0.082000	0.14847	0.655000	0.30866	0.390000	0.25778	TTC		0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
TAP2	6891	broad.mit.edu	37	6	32798533	32798533	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32798533C>A	ENST00000452392.2	-	8	1496	c.1323G>T	c.(1321-1323)gaG>gaT	p.E441D	TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374897.2_Missense_Mutation_p.E441D|TAP2_ENST00000374899.4_Missense_Mutation_p.E441D			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.E441D(1)								Vitamin E(DB00163)	AGAAAACCTTCTCTGCAGCTC	0.517																																					p.E441D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1323T	6						.						63.0	51.0	55.0					6																	32798533		1511	2709	4220	32906511	SO:0001583	missense	6891	exon8			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1323G>T	6.37:g.32798533C>A	ENSP00000391806:p.Glu441Asp		32906511	NM_018833	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37		.	.	.	.	.	.	.	.	.	.	C	11.76	1.733321	0.30684	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.82344	-1.6;-1.6;-1.6	5.58	3.79	0.43588	ABC transporter, transmembrane domain, type 1 (1);	0.762005	0.11178	N	0.591237	T	0.65407	0.2688	L	0.39326	1.205	0.24009	N	0.996181	P;P;P;P	0.51351	0.94;0.944;0.944;0.944	P;B;B;P	0.46110	0.497;0.367;0.367;0.504	T	0.52208	-0.8606	9	0.13853	T	0.58	-27.6708	11.3768	0.49733	0.0:0.791:0.1308:0.0782	.	441;442;441;441	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	D	441	ENSP00000364034:E441D;ENSP00000364032:E441D;ENSP00000391806:E441D	ENSP00000364032:E441D	E	-	3	2	XXbac-BPG246D15.9;TAP2	32906511	0.154000	0.22792	0.936000	0.37596	0.037000	0.13140	0.427000	0.21379	0.294000	0.22547	-0.836000	0.03065	GAG		0.517	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	
TAP1	6890	broad.mit.edu	37	6	32815404	32815404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32815404C>A	ENST00000354258.4	-	9	2130	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000374881.2_5'Flank|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.E396*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	657	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E657*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAATATTTTCTTGAAGACTT	0.473																																					p.E657X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1969T	6						.						103.0	99.0	100.0					6																	32815404		2203	4300	6503	32923382	SO:0001587	stop_gained	6890	exon9				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1969G>T	6.37:g.32815404C>A	ENSP00000346206:p.Glu657*		32923382	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	42	9.367215	0.99150	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.315	15.3873	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	657;396	.	ENSP00000346206:E657X	E	-	1	0	TAP1	32923382	0.995000	0.38212	0.964000	0.40570	0.973000	0.67179	3.384000	0.52478	2.706000	0.92434	0.643000	0.83706	GAA		0.473	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
TAP1	6890	broad.mit.edu	37	6	32818213	32818213	+	Nonsense_Mutation	SNP	G	G	A	rs143800384		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32818213G>A	ENST00000354258.4	-	5	1473	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Nonsense_Mutation_p.R177*	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	438	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.R438*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAAAGCTTCGAACTGTAGGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20485	0.0		0.0	False		,,,				2504	0.001				p.R438X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1312T	6	GRCh37	CM066242	TAP1	M	rs143800384	.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	91.0	90.0		1312	3.7	1.0	6	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	TAP1	NM_000593.5		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		438/809	32818213	3,13003	2203	4300	6503	32926191	SO:0001587	stop_gained	6890	exon5				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1312C>T	6.37:g.32818213G>A	ENSP00000346206:p.Arg438*		32926191	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	40	8.369631	0.98781	2.27E-4	2.33E-4	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	3.73	0.42828	.	0.329018	0.21658	N	0.071066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5546	12.5898	0.56437	0.0:0.0:0.6139:0.3861	.	.	.	.	X	438;177	.	ENSP00000346206:R438X	R	-	1	2	TAP1	32926191	1.000000	0.71417	0.959000	0.39883	0.901000	0.52897	3.935000	0.56560	1.401000	0.46761	0.643000	0.83706	CGA		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
TAP1	6890	broad.mit.edu	37	6	32819981	32819981	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32819981T>G	ENST00000354258.4	-	3	1090	c.929A>C	c.(928-930)aAc>aCc	p.N310T	PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.N49T|PSMB9_ENST00000453265.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	310	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.N310T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CATGGTGTTGTTATAGATCCC	0.542																																					p.N310T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929C	6						.						102.0	90.0	94.0					6																	32819981		1510	2709	4219	32927959	SO:0001583	missense	6890	exon3				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.929A>C	6.37:g.32819981T>G	ENSP00000346206:p.Asn310Thr		32927959	NM_000593	Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	T	5.364	0.252400	0.10185	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.88664	-2.41;-2.41	4.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	.	.	.	.	T	0.80560	0.4646	L	0.40543	1.245	0.48288	D	0.99962	P	0.34815	0.47	P	0.44623	0.455	T	0.77975	-0.2385	9	0.11485	T	0.65	-6.4503	12.502	0.55960	0.0:0.0:0.0:1.0	.	310	Q03518	TAP1_HUMAN	T	310;49	ENSP00000346206:N310T;ENSP00000401919:N49T	ENSP00000346206:N310T	N	-	2	0	TAP1	32927959	0.998000	0.40836	0.982000	0.44146	0.090000	0.18270	2.931000	0.48932	2.037000	0.60232	0.450000	0.29827	AAC		0.542	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
HLA-DMB	3109	broad.mit.edu	37	6	32906624	32906624	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32906624C>A	ENST00000418107.2	-	2	436	c.174G>T	c.(172-174)gaG>gaT	p.E58D	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.E58D|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.E90D|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	58	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.E58D(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CCATCTTATTCTCCTCTGGAT	0.512																																					p.E58D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G174T	6						.						117.0	121.0	119.0					6																	32906624		1511	2709	4220	33014602	SO:0001583	missense	3109	exon2				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.174G>T	6.37:g.32906624C>A	ENSP00000398890:p.Glu58Asp		33014602	NM_002118	O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	6.257	0.415447	0.11870	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00342	8.03;8.03;8.03	5.07	2.07	0.26955	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.410940	0.04511	N	0.382938	T	0.00073	0.0002	L	0.60455	1.87	0.09310	N	1	B;B;P	0.34587	0.029;0.039;0.458	B;B;B	0.29077	0.032;0.024;0.098	T	0.21518	-1.0243	9	.	.	.	.	4.0491	0.09786	0.1966:0.6054:0.0:0.1979	.	58;58;67	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	D	58;58;58;90	ENSP00000398890:E58D;ENSP00000391010:E58D;ENSP00000412457:E90D	.	E	-	3	2	XXbac-BPG181M17.5;HLA-DMB	33014602	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.070000	0.14573	0.718000	0.32166	0.637000	0.83480	GAG		0.512	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	
BRD2	6046	broad.mit.edu	37	6	32948370	32948370	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32948370A>G	ENST00000374825.4	+	13	3982	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	BRD2_ENST00000395287.1_Missense_Mutation_p.T796A|BRD2_ENST00000374831.4_Missense_Mutation_p.T761A|BRD2_ENST00000449085.2_Missense_Mutation_p.T714A|BRD2_ENST00000395289.2_Missense_Mutation_p.T796A|BRD2_ENST00000443797.2_Missense_Mutation_p.T641A	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	761					chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)	p.T796A(1)		central_nervous_system(3)|stomach(2)	5						GAATGAGAAAACAGAGTCATC	0.463																																					p.T761A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2281G	6						.						90.0	81.0	85.0					6																	32948370		1511	2709	4220	33056348	SO:0001583	missense	6046	exon13			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2281A>G	6.37:g.32948370A>G	ENSP00000363958:p.Thr761Ala		33056348	NM_005104	A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	ENST00000374825.4	37	CCDS4762.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666043	0.14710	.	.	ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	6.01	3.66	0.41972	.	0.273019	0.26620	N	0.023378	T	0.01523	0.0049	N	0.04959	-0.14	0.29613	N	0.846807	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46679	-0.9174	10	0.05959	T	0.93	-9.9294	5.2418	0.15475	0.6818:0.0:0.3182:0.0	.	796;761	A2AAU0;P25440	.;BRD2_HUMAN	A	761;761;796;641;796;714	ENSP00000363958:T761A;ENSP00000363964:T761A;ENSP00000378704:T796A;ENSP00000413495:T641A;ENSP00000378702:T796A;ENSP00000409145:T714A	ENSP00000363958:T761A	T	+	1	0	BRD2	33056348	0.998000	0.40836	0.994000	0.49952	0.973000	0.67179	1.721000	0.38032	1.088000	0.41272	0.523000	0.50628	ACA		0.463	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		
HLA-DOA	3111	broad.mit.edu	37	6	32975122	32975122	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:32975122G>T	ENST00000229829.5	-	3	654	c.579C>A	c.(577-579)caC>caA	p.H193Q	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.H163Q|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	193	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)	p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCAGGCCCCAGTGCTCCACCT	0.587																																					p.H193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C579A	6						.						99.0	113.0	108.0					6																	32975122		1511	2709	4220	33083100	SO:0001583	missense	3111	exon3			M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.579C>A	6.37:g.32975122G>T	ENSP00000229829:p.His193Gln		33083100	NM_002119	Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016058	0.75161	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.06142	3.34;3.34	4.51	4.51	0.55191	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	H	0.98996	4.395	0.46678	D	0.999152	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.60647	-0.7222	10	0.87932	D	0	.	15.1456	0.72647	0.0:0.0:1.0:0.0	.	163;193	B4DW77;P06340	.;DOA_HUMAN	Q	193;163	ENSP00000229829:H193Q;ENSP00000403896:H163Q	ENSP00000229829:H193Q	H	-	3	2	HLA-DOA	33083100	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.191000	0.58372	2.501000	0.84356	0.650000	0.86243	CAC		0.587	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119	
HLA-DPB1	3115	broad.mit.edu	37	6	33048540	33048540	+	Silent	SNP	C	C	T	rs41555415		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33048540C>T	ENST00000418931.2	+	2	308	c.192C>T	c.(190-192)ttC>ttT	p.F64F	HLA-DPB1_ENST00000535465.1_Silent_p.F64F|HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPA1_ENST00000419277.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	64	Beta-1.		F -> L (in allele DPB1*02:02, allele DPB1*02:03, allele DPB1*05:01, allele DPB1*15:02, allele DPB1*17:02, allele DPB1*19:02, allele DPB1*21:01, allele DPB1*21:01, allele DPB1*22:01, allele DPB1*34:01, allele DPB1*36:01, allele DPB1*38:01, allele DPB1*44:01, allele DPB1*48:01, allele DPB1*58:01, allele DPB1*62:01, allele DPB1*63:01, allele DPB1*95:01 and allele DPB1*97:01; dbSNP:rs9277348).|F -> Y (in allele DPB1*01:01, allele DPB1*01:02, allele DPB1*09:02, allele DPB1*11:01, allele DPB1*13:01, allele DPB1*15:01, allele DPB1*20:02, allele DPB1*21:02, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*39:01, allele DPB1*40:01, allele DPB1*49:01, allele DPB1*53:01, allele DPB1*65:01, allele DPB1*74:01, allele DPB1*85:01, allele DPB1*89:01 and allele DPB1*96:01; dbSNP:rs1042117).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.F64F(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GGGAGGAGTTCGCGCGCTTCG	0.607																																					p.F64F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	6						.						69.0	69.0	69.0					6																	33048540		1511	2709	4220	33156518	SO:0001819	synonymous_variant	3115	exon2				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.192C>T	6.37:g.33048540C>T			33156518	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Silent	SNP	ENST00000418931.2	37	CCDS4765.1	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.760016	0.03019	.	.	ENSG00000223865	ENST00000416804	.	.	.	3.94	1.15	0.20763	.	.	.	.	.	T	0.09949	0.0244	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.30794	-0.9966	4	.	.	.	.	4.4029	0.11395	0.0:0.4218:0.3666:0.2116	rs41555415	.	.	.	L	31	.	.	S	+	2	0	HLA-DPB1	33156518	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.264000	0.18497	0.451000	0.26802	-0.134000	0.14843	TCG		0.607	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121	
HSD17B8	7923	broad.mit.edu	37	6	33173617	33173617	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33173617C>A	ENST00000374662.3	+	6	606	c.579C>A	c.(577-579)cgC>cgA	p.R193R	RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	193				R -> P (in Ref. 5; BAA11529). {ECO:0000305}.	androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.R193R(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						ATGGGATCCGCTGTAACTCTG	0.582																																					p.R193R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579A	6						.						123.0	125.0	124.0					6																	33173617		1509	2708	4217	33281595	SO:0001819	synonymous_variant	7923	exon6			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.579C>A	6.37:g.33173617C>A			33281595	NM_014234	A6NLX7|Q5STP7|Q9UIQ1	Silent	SNP	ENST00000374662.3	37	CCDS4769.1																																																																																				0.582	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234	
VPS52	6293	broad.mit.edu	37	6	33237315	33237315	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33237315A>G	ENST00000445902.2	-	5	542	c.324T>C	c.(322-324)aaT>aaC	p.N108N	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_5'UTR|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	108					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.N108N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GAGATGCTATATTCTCACTCT	0.443																																					p.N108N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T324C	6						.						133.0	127.0	129.0					6																	33237315		1511	2709	4220	33345293	SO:0001819	synonymous_variant	6293	exon5			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.324T>C	6.37:g.33237315A>G			33345293	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	CCDS4770.2																																																																																				0.443	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
WDR46	9277	broad.mit.edu	37	6	33255438	33255438	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33255438C>A	ENST00000374617.4	-	7	1037	c.681G>T	c.(679-681)aaG>aaT	p.K227N	WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	227							poly(A) RNA binding (GO:0044822)	p.K227N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						ACATAAGCTTCTTTGTTACCC	0.582																																					p.K173N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G519T	6						.						85.0	76.0	79.0					6																	33255438		2203	4300	6503	33363416	SO:0001583	missense	9277	exon7			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.681G>T	6.37:g.33255438C>A	ENSP00000363746:p.Lys227Asn		33363416	NM_001164267	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.538144	0.65085	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.16597	5.05;2.33	4.56	1.62	0.23740	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.78223	2.4	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.972;1.0	T	0.04825	-1.0924	10	0.27082	T	0.32	-25.4543	7.6767	0.28490	0.0:0.6854:0.0:0.3146	.	173;227	B4DP15;O15213	.;WDR46_HUMAN	N	227;154	ENSP00000363746:K227N;ENSP00000405568:K154N	ENSP00000363746:K227N	K	-	3	2	WDR46	33363416	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.219000	0.32479	0.486000	0.27676	0.549000	0.68633	AAG		0.582	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452	
WDR46	9277	broad.mit.edu	37	6	33255751	33255751	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33255751C>T	ENST00000374617.4	-	6	970	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	205							poly(A) RNA binding (GO:0044822)	p.R205Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCTTCCAGTTCGAGAGTAGTT	0.448																																					p.R151Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	6						.						189.0	196.0	193.0					6																	33255751		2203	4300	6503	33363729	SO:0001583	missense	9277	exon6			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.614G>A	6.37:g.33255751C>T	ENSP00000363746:p.Arg205Gln		33363729	NM_001164267	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	ENST00000374617.4	37	CCDS4772.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576537	0.45902	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.16897	5.03;2.31	4.76	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.250259	0.37669	N	0.001987	T	0.09291	0.0229	M	0.81682	2.555	0.37099	D	0.899788	B;B	0.28026	0.198;0.122	B;B	0.19946	0.018;0.027	T	0.02519	-1.1147	10	0.44086	T	0.13	-0.8314	8.1852	0.31335	0.0:0.7524:0.1591:0.0885	.	151;205	B4DP15;O15213	.;WDR46_HUMAN	Q	205;132	ENSP00000363746:R205Q;ENSP00000405568:R132Q	ENSP00000363746:R205Q	R	-	2	0	WDR46	33363729	0.823000	0.29233	0.996000	0.52242	0.927000	0.56198	1.360000	0.34125	0.601000	0.29879	0.549000	0.68633	CGA		0.448	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076382.2	NM_005452	
SYNGAP1	8831	broad.mit.edu	37	6	33405452	33405452	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33405452G>T	ENST00000418600.2	+	8	871	c.770G>T	c.(769-771)aGc>aTc	p.S257I	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S257I|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S198I|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	257	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S257I(1)|p.S242I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGGACAACAGCCGCCGGGTA	0.552																																					p.S257I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G770T	6						.						166.0	185.0	179.0					6																	33405452		2203	4300	6503	33513430	SO:0001583	missense	8831	exon8			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.770G>T	6.37:g.33405452G>T	ENSP00000403636:p.Ser257Ile		33513430	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573050	0.65765	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93247	-3.19;-3.19;-3.19	4.51	4.51	0.55191	SynGAP C2 domain, N-terminal (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.67953	2.075	0.58432	D	0.999998	D;D;B	0.76494	0.998;0.999;0.077	D;D;B	0.83275	0.991;0.996;0.053	D	0.94897	0.8053	10	0.49607	T	0.09	.	14.7891	0.69827	0.0:0.0:1.0:0.0	.	257;257;257	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	I	257;257;257;198	ENSP00000293748:S257I;ENSP00000403636:S257I;ENSP00000412475:S198I	ENSP00000293748:S257I	S	+	2	0	SYNGAP1	33513430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.660000	0.83776	2.341000	0.79615	0.655000	0.94253	AGC		0.552	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
SYNGAP1	8831	broad.mit.edu	37	6	33405818	33405818	+	Missense_Mutation	SNP	C	C	T	rs371883908		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33405818C>T	ENST00000418600.2	+	8	1237	c.1136C>T	c.(1135-1137)tCg>tTg	p.S379L	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S379L|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S320L|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	379					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.S364L(1)|p.S379L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGCATGGGTTCGGGAGGGGGA	0.652																																					p.S379L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1136T	6						.	C	LEU/SER	0,4096		0,0,2048	9.0	12.0	11.0		1136	4.4	0.8	6		11	1,7985		0,1,3992	no	missense	SYNGAP1	NM_006772.2	145	0,1,6040	TT,TC,CC		0.0125,0.0,0.0083	possibly-damaging	379/1344	33405818	1,12081	2048	3993	6041	33513796	SO:0001583	missense	8831	exon8			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1136C>T	6.37:g.33405818C>T	ENSP00000403636:p.Ser379Leu		33513796	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084260	0.36758	0.0	1.25E-4	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.89681	-2.55;-2.55;-2.55	4.4	4.4	0.53042	.	0.000000	0.32430	U	0.006107	D	0.84606	0.5509	L	0.29908	0.895	0.42590	D	0.993247	B;B;B;D	0.69078	0.015;0.009;0.026;0.997	B;B;B;P	0.54590	0.002;0.005;0.005;0.756	D	0.87237	0.2264	10	0.72032	D	0.01	.	12.3364	0.55069	0.0:1.0:0.0:0.0	.	379;379;379;379	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	L	379;379;379;320	ENSP00000293748:S379L;ENSP00000403636:S379L;ENSP00000412475:S320L	ENSP00000293748:S379L	S	+	2	0	SYNGAP1	33513796	.	.	0.830000	0.32933	0.532000	0.34746	.	.	2.251000	0.74343	0.650000	0.86243	TCG		0.652	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
SYNGAP1	8831	broad.mit.edu	37	6	33411044	33411044	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33411044C>A	ENST00000418600.2	+	15	2816	c.2715C>A	c.(2713-2715)cgC>cgA	p.R905R	SYNGAP1_ENST00000293748.5_Silent_p.R905R|SYNGAP1_ENST00000428982.2_Silent_p.R846R|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	905					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)	p.R905R(1)|p.R890R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTGGCATGCGCCTCAGCCAGA	0.662																																					p.R905R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2715A	6						.						70.0	68.0	69.0					6																	33411044		2203	4300	6503	33519022	SO:0001819	synonymous_variant	8831	exon15			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2715C>A	6.37:g.33411044C>A			33519022	NM_006772	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	CCDS34434.2																																																																																				0.662	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
UQCC2	84300	broad.mit.edu	37	6	33669152	33669152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33669152G>A	ENST00000607484.1	-	2	224	c.184C>T	c.(184-186)Cga>Tga	p.R62*	UQCC2_ENST00000374214.3_Intron	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	62					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R62*(1)									GAATGGAGTCGCGCTAAGCTC	0.473																																					p.R62X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C184T	6						.						178.0	166.0	170.0					6																	33669152		2203	4300	6503	33777130	SO:0001587	stop_gained	84300	exon2				CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.184C>T	6.37:g.33669152G>A	ENSP00000476140:p.Arg62*		33777130	NM_032340	B2R4I0	Nonsense_Mutation	SNP	ENST00000607484.1	37	CCDS4784.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637385	0.87760	.	.	ENSG00000137288	ENST00000374231	.	.	.	6.02	3.09	0.35607	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9392	0.70980	0.0:0.0:0.3467:0.6532	.	.	.	.	X	62	.	ENSP00000363348:R62X	R	-	1	2	C6orf125	33777130	1.000000	0.71417	0.952000	0.39060	0.931000	0.56810	0.902000	0.28459	0.310000	0.22990	-0.169000	0.13324	CGA		0.473	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340	
IP6K3	117283	broad.mit.edu	37	6	33690771	33690771	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:33690771C>T	ENST00000293756.4	-	6	1285	c.959G>A	c.(958-960)cGc>cAc	p.R320H	IP6K3_ENST00000451316.1_Missense_Mutation_p.R320H	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	320					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R320H(1)		skin(1)	1						GGAATAGAAGCGGTATGAACT	0.597																																					p.R320H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	6						.						60.0	64.0	63.0					6																	33690771		2203	4300	6503	33798749	SO:0001583	missense	117283	exon6			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.959G>A	6.37:g.33690771C>T	ENSP00000293756:p.Arg320His		33798749	NM_054111	Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359293	0.95854	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.16324	2.35;2.35	5.99	5.99	0.97316	.	0.176453	0.40469	N	0.001089	T	0.39517	0.1081	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07888	-1.0749	10	0.51188	T	0.08	-46.5309	20.0728	0.97731	0.0:1.0:0.0:0.0	.	320	Q96PC2	IP6K3_HUMAN	H	320	ENSP00000398861:R320H;ENSP00000293756:R320H	ENSP00000293756:R320H	R	-	2	0	IP6K3	33798749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CGC		0.597	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111	
SNRPC	6631	broad.mit.edu	37	6	34730475	34730475	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:34730475A>C	ENST00000244520.5	+	3	293	c.155A>C	c.(154-156)aAa>aCa	p.K52T	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.K11T|SNRPC_ENST00000374017.3_Missense_Mutation_p.K73T	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C									p.K52T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CTGATTGACAAAACAAGTATG	0.403																																					p.K52T	NSCLC(131;576 1831 5287 11175 13324)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A155C	6						.						79.0	69.0	72.0					6																	34730475		2203	4300	6503	34838453	SO:0001583	missense	6631	exon3				CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.155A>C	6.37:g.34730475A>C	ENSP00000244520:p.Lys52Thr		34838453	NM_003093		Missense_Mutation	SNP	ENST00000244520.5	37	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788947	0.90367	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.32023	1.47;1.47;1.47	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	M	0.69823	2.125	0.80722	D	1	P	0.48998	0.918	B	0.43701	0.428	T	0.04373	-1.0956	10	0.32370	T	0.25	.	16.4837	0.84171	1.0:0.0:0.0:0.0	.	52	P09234	RU1C_HUMAN	T	52;11;73	ENSP00000244520:K52T;ENSP00000363130:K11T;ENSP00000363129:K73T	ENSP00000244520:K52T	K	+	2	0	SNRPC	34838453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.818000	0.91991	2.371000	0.80710	0.533000	0.62120	AAA		0.403	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093	
UHRF1BP1	54887	broad.mit.edu	37	6	34802535	34802535	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:34802535G>A	ENST00000192788.5	+	6	737	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R189Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	189							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.R189Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAAACACTCCGAATTGAGGCA	0.418																																					p.R189Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	6						.						140.0	138.0	139.0					6																	34802535		1918	4130	6048	34910513	SO:0001583	missense	54887	exon6			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.566G>A	6.37:g.34802535G>A	ENSP00000192788:p.Arg189Gln		34910513	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104064	0.94245	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.12984	2.63;2.63	4.56	3.69	0.42338	.	0.000000	0.64402	D	0.000002	T	0.28863	0.0716	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16808	-1.0390	10	0.87932	D	0	-2.5876	12.5072	0.55987	0.0807:0.0:0.9193:0.0	.	189	Q6BDS2	URFB1_HUMAN	Q	189	ENSP00000192788:R189Q;ENSP00000400628:R189Q	ENSP00000192788:R189Q	R	+	2	0	UHRF1BP1	34910513	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	9.593000	0.98250	1.151000	0.42436	0.655000	0.94253	CGA		0.418	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
UHRF1BP1	54887	broad.mit.edu	37	6	34838694	34838694	+	Missense_Mutation	SNP	G	G	A	rs76166303	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:34838694G>A	ENST00000192788.5	+	18	3953	c.3782G>A	c.(3781-3783)cGc>cAc	p.R1261H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R1261H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1261							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.R1261H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GTGGGCCTTCGCTTTGAGGTG	0.502													G|||	4	0.000798722	0.003	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.0				p.R1261H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3782A	6						.	G	HIS/ARG	8,3864		0,8,1928	71.0	71.0	71.0		3782	5.3	1.0	6	dbSNP_131	71	0,8296		0,0,4148	yes	missense	UHRF1BP1	NM_017754.3	29	0,8,6076	AA,AG,GG		0.0,0.2066,0.0657	probably-damaging	1261/1441	34838694	8,12160	1936	4148	6084	34946672	SO:0001583	missense	54887	exon18			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3782G>A	6.37:g.34838694G>A	ENSP00000192788:p.Arg1261His		34946672	NM_017754	Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	33	5.251664	0.95305	0.002066	0.0	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.18810	2.19;2.21	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	M	0.71036	2.16	0.48040	D	0.999571	D	0.89917	1.0	D	0.87578	0.998	T	0.38908	-0.9639	10	0.87932	D	0	-14.0054	18.9033	0.92452	0.0:0.0:1.0:0.0	.	1261	Q6BDS2	URFB1_HUMAN	H	1261	ENSP00000192788:R1261H;ENSP00000400628:R1261H	ENSP00000192788:R1261H	R	+	2	0	UHRF1BP1	34946672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.304000	0.59104	2.427000	0.82271	0.655000	0.94253	CGC		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
ZNF76	7629	broad.mit.edu	37	6	35255511	35255511	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35255511G>T	ENST00000373953.3	+	5	587	c.321G>T	c.(319-321)gaG>gaT	p.E107D	ZNF76_ENST00000339411.5_Missense_Mutation_p.E107D|ZNF76_ENST00000440666.2_Missense_Mutation_p.E81D	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	107					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E107D(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGCCATCGGAGAGCACCATCC	0.607																																					p.E107D	Esophageal Squamous(52;92 1039 20612 23956 34676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G321T	6						.						109.0	93.0	98.0					6																	35255511		2203	4300	6503	35363489	SO:0001583	missense	7629	exon5			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.321G>T	6.37:g.35255511G>T	ENSP00000363064:p.Glu107Asp		35363489	NM_003427	Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.326832	0.00017	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.09350	2.99;3.01;3.01;3.03	5.17	-2.42	0.06542	.	0.485962	0.17210	N	0.182756	T	0.00936	0.0031	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.40098	-0.9581	10	0.08837	T	0.75	.	9.0388	0.36305	0.0:0.4465:0.2599:0.2935	.	107;107;107;107	B7Z851;B7Z991;P36508-2;P36508	.;.;.;ZNF76_HUMAN	D	107;107;107;107;81;107	ENSP00000419106:E107D;ENSP00000363064:E107D;ENSP00000392243:E81D;ENSP00000344097:E107D	ENSP00000229405:E107D	E	+	3	2	ZNF76	35363489	0.414000	0.25408	0.000000	0.03702	0.000000	0.00434	-0.001000	0.12947	-1.012000	0.03387	-4.439000	0.00006	GAG		0.607	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	
ZNF76	7629	broad.mit.edu	37	6	35259412	35259412	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35259412C>T	ENST00000373953.3	+	9	1095	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ZNF76_ENST00000339411.5_Missense_Mutation_p.R277C|ZNF76_ENST00000440666.2_Missense_Mutation_p.R251C	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	277					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R277C(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGTACATGTGCGCACCCACAC	0.602																																					p.R277C	Esophageal Squamous(52;92 1039 20612 23956 34676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C829T	6						.						84.0	73.0	77.0					6																	35259412		2203	4300	6503	35367390	SO:0001583	missense	7629	exon9			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.829C>T	6.37:g.35259412C>T	ENSP00000363064:p.Arg277Cys		35367390	NM_003427	Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252317	0.95336	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000339	T	0.51753	0.1693	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.59941	-0.7359	10	0.87932	D	0	.	17.7212	0.88351	0.0:1.0:0.0:0.0	.	277;277;277	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	C	277;277;277;277;251;277	ENSP00000419106:R277C;ENSP00000363064:R277C;ENSP00000392243:R251C;ENSP00000344097:R277C	ENSP00000344097:R277C	R	+	1	0	ZNF76	35367390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.827000	0.69300	2.652000	0.90054	0.655000	0.94253	CGC		0.602	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427	
RPL10A	4736	broad.mit.edu	37	6	35438370	35438370	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35438370C>T	ENST00000322203.6	+	6	524	c.497C>T	c.(496-498)gCt>gTt	p.A166V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	166					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A166V(1)		breast(1)|large_intestine(2)|ovary(1)	4						TTATGTCTGGCTGTAGCTGTT	0.517																																					p.A166V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	6						.						166.0	154.0	158.0					6																	35438370		2203	4300	6503	35546348	SO:0001583	missense	4736	exon6			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.497C>T	6.37:g.35438370C>T	ENSP00000363018:p.Ala166Val		35546348	NM_007104	B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223273	0.79464	.	.	ENSG00000198755	ENST00000322203	T	0.44881	0.91	4.67	4.67	0.58626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.86420	2.815	0.80722	D	1	P	0.39576	0.679	B	0.43990	0.438	T	0.60875	-0.7176	10	0.87932	D	0	.	16.1695	0.81793	0.0:1.0:0.0:0.0	.	166	P62906	RL10A_HUMAN	V	166	ENSP00000363018:A166V	ENSP00000363018:A166V	A	+	2	0	RPL10A	35546348	1.000000	0.71417	0.983000	0.44433	0.713000	0.41058	7.683000	0.84093	2.139000	0.66308	0.561000	0.74099	GCT		0.517	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104	
FKBP5	2289	broad.mit.edu	37	6	35587936	35587936	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35587936A>C	ENST00000539068.1	-	4	568	c.366T>G	c.(364-366)atT>atG	p.I122M	FKBP5_ENST00000542713.1_Missense_Mutation_p.I122M|FKBP5_ENST00000357266.4_Missense_Mutation_p.I122M|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000536438.1_Missense_Mutation_p.I122M	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	122	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I122M(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CATTCGAGGGAATTTTAGGGA	0.463																																					p.I122M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T366G	6						.						138.0	118.0	125.0					6																	35587936		2203	4300	6503	35695914	SO:0001583	missense	2289	exon4			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.366T>G	6.37:g.35587936A>C	ENSP00000441205:p.Ile122Met		35695914	NM_001145777	F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093365	0.76756	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.75	-0.396	0.12427	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.058128	0.64402	D	0.000003	T	0.80874	0.4707	H	0.98487	4.245	0.47441	D	0.999424	D;D	0.89917	1.0;0.971	D;P	0.85130	0.997;0.856	D	0.83586	0.0120	10	0.87932	D	0	-6.2849	10.5262	0.44950	0.3835:0.0:0.6165:0.0	.	122;122	F5H7R1;Q13451	.;FKBP5_HUMAN	M	122;122;122;122;85;122;120	ENSP00000444810:I122M;ENSP00000349811:I122M;ENSP00000441205:I122M;ENSP00000442340:I122M	ENSP00000338160:I122M	I	-	3	3	FKBP5	35695914	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	0.652000	0.24888	-0.070000	0.12908	0.528000	0.53228	ATT		0.463	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2		
CLPSL1	340204	broad.mit.edu	37	6	35755728	35755728	+	Missense_Mutation	SNP	G	G	A	rs201001742		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35755728G>A	ENST00000373861.5	+	3	401	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	CLPSL1_ENST00000542261.1_Missense_Mutation_p.A102T			A2RUU4	COLL1_HUMAN	colipase-like 1	103					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)	p.A103T(1)									GCTTAGCATCGCCTATGGCCG	0.488													G|||	1	0.000199681	0.0	0.0014	5008	,	,		26916	0.0		0.0	False		,,,				2504	0.0				p.A103T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307A	6						.						169.0	169.0	169.0					6																	35755728		2026	4197	6223	35863706	SO:0001583	missense	340204	exon3				CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.307G>A	6.37:g.35755728G>A	ENSP00000362968:p.Ala103Thr		35863706	NM_001010886	A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.566951	0.00895	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261	T;T	0.31510	1.49;1.49	2.69	-0.0658	0.13767	.	1.242570	0.06409	U	0.720168	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.39522	-0.9610	10	0.18276	T	0.48	.	4.6867	0.12760	0.6908:0.0:0.3092:0.0	.	103	A2RUU4	CF127_HUMAN	T	103;103;102	ENSP00000362968:A103T;ENSP00000438478:A102T	ENSP00000362967:A103T	A	+	1	0	C6orf127	35863706	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.143000	0.16115	0.045000	0.15804	-0.423000	0.05987	GCC		0.488	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886	
CLPS	1208	broad.mit.edu	37	6	35765035	35765035	+	Missense_Mutation	SNP	C	C	T	rs529464575		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35765035C>T	ENST00000259938.2	-	1	53	c.31G>A	c.(31-33)Gcc>Acc	p.A11T		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	11					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)	p.A11T(1)		large_intestine(2)|lung(2)|prostate(1)	5						ACAGAGAGGGCGACAAGCAGG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		27577	0.001		0.0	False		,,,				2504	0.0				p.A11T	Melanoma(167;2962 3494 37796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	6						.						119.0	106.0	111.0					6																	35765035		2203	4300	6503	35873013	SO:0001583	missense	1208	exon1				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.31G>A	6.37:g.35765035C>T	ENSP00000259938:p.Ala11Thr		35873013	NM_001832	Q5T9G7|Q5U809	Missense_Mutation	SNP	ENST00000259938.2	37	CCDS4811.1	.	.	.	.	.	.	.	.	.	.	C	3.218	-0.160092	0.06502	.	.	ENSG00000137392	ENST00000259938;ENST00000541088	T	0.28454	1.61	4.92	-0.933	0.10431	.	0.990985	0.08205	N	0.981612	T	0.04003	0.0112	N	0.13098	0.295	0.09310	N	1	B;B	0.17667	0.021;0.023	B;B	0.08055	0.002;0.003	T	0.41963	-0.9479	10	0.14252	T	0.57	-12.623	3.582	0.07957	0.3158:0.2414:0.0:0.4427	.	11;11	G3V1M8;P04118	.;COL_HUMAN	T	11	ENSP00000259938:A11T	ENSP00000259938:A11T	A	-	1	0	CLPS	35873013	0.000000	0.05858	0.009000	0.14445	0.179000	0.23085	-2.520000	0.00951	-0.033000	0.13736	0.655000	0.94253	GCC		0.602	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040312.1	NM_001832	
LHFPL5	222662	broad.mit.edu	37	6	35773483	35773483	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35773483G>T	ENST00000373853.1	+	1	414	c.36G>T	c.(34-36)aaG>aaT	p.K12N	LHFPL5_ENST00000360215.1_Missense_Mutation_p.K12N			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	12					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.K12N(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						AGGCAGCCAAGATCTACCATA	0.612																																					p.K12N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G36T	6						.						110.0	98.0	102.0					6																	35773483		2203	4300	6503	35881461	SO:0001583	missense	222662	exon1			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.36G>T	6.37:g.35773483G>T	ENSP00000362960:p.Lys12Asn		35881461	NM_182548	B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861737	0.51482	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.78246	-1.16;-1.16	5.54	4.66	0.58398	.	0.147155	0.64402	D	0.000013	T	0.58061	0.2096	M	0.67397	2.05	0.39213	D	0.963352	B	0.32968	0.392	B	0.26770	0.073	T	0.64478	-0.6398	10	0.54805	T	0.06	-28.319	6.5667	0.22515	0.1843:0.1486:0.667:0.0	.	12	Q8TAF8	TMHS_HUMAN	N	12	ENSP00000362960:K12N;ENSP00000353346:K12N	ENSP00000353346:K12N	K	+	3	2	LHFPL5	35881461	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.122000	0.50446	1.300000	0.44818	0.542000	0.68232	AAG		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548	
SRPK1	6732	broad.mit.edu	37	6	35837432	35837432	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35837432G>T	ENST00000373825.2	-	11	1523	c.1238C>A	c.(1237-1239)tCt>tAt	p.S413Y	SRPK1_ENST00000373822.1_Missense_Mutation_p.S306Y|SRPK1_ENST00000423325.2_Missense_Mutation_p.S397Y					SRSF protein kinase 1									p.S413Y(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGGTGTACAAGAGTCTGTTTC	0.418																																					p.S413Y	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238A	6						.						176.0	165.0	168.0					6																	35837432		1984	4157	6141	35945410	SO:0001583	missense	6732	exon11			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1238C>A	6.37:g.35837432G>T	ENSP00000362931:p.Ser413Tyr		35945410	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	5.337	0.247585	0.10130	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.29917	1.56;1.55;1.55;1.61	5.66	5.66	0.87406	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.32466	0.0830	M	0.67700	2.07	0.38478	D	0.947655	P;P	0.44429	0.835;0.826	P;P	0.49561	0.615;0.467	T	0.04767	-1.0928	9	0.48119	T	0.1	-11.2859	13.563	0.61802	0.0739:0.0:0.9261:0.0	.	397;413	B4DS61;Q96SB4	.;SRPK1_HUMAN	Y	413;429;397;306	ENSP00000362931:S413Y;ENSP00000354674:S429Y;ENSP00000391069:S397Y;ENSP00000362928:S306Y	ENSP00000354674:S429Y	S	-	2	0	SRPK1	35945410	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.120000	0.41968	2.832000	0.97577	0.655000	0.94253	TCT		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
SLC26A8	116369	broad.mit.edu	37	6	35965661	35965661	+	Missense_Mutation	SNP	C	C	T	rs199595123		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:35965661C>T	ENST00000490799.1	-	5	834	c.481G>A	c.(481-483)Gtt>Att	p.V161I	SLC26A8_ENST00000394602.2_Missense_Mutation_p.V161I|SLC26A8_ENST00000355574.2_Missense_Mutation_p.V161I	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V161I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACTTTCAGAACGTTGATCAGC	0.443																																					p.V161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481A	6						.						122.0	108.0	113.0					6																	35965661		2203	4300	6503	36073639	SO:0001583	missense	116369	exon5			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.481G>A	6.37:g.35965661C>T	ENSP00000417638:p.Val161Ile		36073639	NM_052961		Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866742	0.32977	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.91996	-2.95;-2.95;-2.95	5.82	4.95	0.65309	.	0.200900	0.35013	N	0.003510	D	0.85388	0.5685	N	0.21373	0.66	0.32838	D	0.504994	B;D	0.55605	0.341;0.972	B;P	0.53224	0.031;0.721	D	0.85512	0.1198	10	0.46703	T	0.11	.	10.741	0.46154	0.0:0.9127:0.0:0.0873	.	161;161	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	I	161	ENSP00000417638:V161I;ENSP00000378100:V161I;ENSP00000347778:V161I	ENSP00000347778:V161I	V	-	1	0	SLC26A8	36073639	0.953000	0.32496	0.995000	0.50966	0.193000	0.23685	1.480000	0.35464	1.453000	0.47775	0.650000	0.86243	GTT		0.443	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		
BRPF3	27154	broad.mit.edu	37	6	36168316	36168316	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:36168316G>A	ENST00000357641.6	+	2	470	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	BRPF3_ENST00000534400.1_Missense_Mutation_p.E73K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E73K|BRPF3_ENST00000543502.1_Missense_Mutation_p.E73K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E73K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E73K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	73					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.E73K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGATATCACCGAATGCAATAG	0.463																																					p.E73K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	6						.						97.0	90.0	92.0					6																	36168316		2203	4300	6503	36276294	SO:0001583	missense	27154	exon2			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.217G>A	6.37:g.36168316G>A	ENSP00000350267:p.Glu73Lys		36276294	NM_015695	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169648	0.57584	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000446974;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T;T;T	0.50001	0.87;0.87;0.87;0.76;0.87;0.87;0.87;0.87	5.43	5.43	0.79202	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.995;0.995;0.996	T	0.62599	-0.6820	10	0.49607	T	0.09	.	19.3065	0.94164	0.0:0.0:1.0:0.0	.	73;73;73	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	K	73	ENSP00000350267:E73K;ENSP00000345419:E73K;ENSP00000434501:E73K;ENSP00000410669:E73K;ENSP00000413655:E73K;ENSP00000445352:E73K;ENSP00000387368:E73K;ENSP00000436504:E73K	ENSP00000345419:E73K	E	+	1	0	BRPF3	36276294	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	9.411000	0.97342	2.563000	0.86464	0.551000	0.68910	GAA		0.463	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
BRPF3	27154	broad.mit.edu	37	6	36182072	36182072	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:36182072C>T	ENST00000357641.6	+	8	3151	c.2898C>T	c.(2896-2898)atC>atT	p.I966I	BRPF3_ENST00000534400.1_Silent_p.I966I|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000443324.2_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	966					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.I966I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGCCAGCATCGAGGAAGAGC	0.622																																					p.I966I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2898T	6						.						35.0	41.0	39.0					6																	36182072		2201	4298	6499	36290050	SO:0001819	synonymous_variant	27154	exon8			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2898C>T	6.37:g.36182072C>T			36290050	NM_015695	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	CCDS34437.1																																																																																				0.622	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
KCTD20	222658	broad.mit.edu	37	6	36447474	36447474	+	Missense_Mutation	SNP	G	G	A	rs182729907		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:36447474G>A	ENST00000373731.2	+	5	1035	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	KCTD20_ENST00000536244.1_Missense_Mutation_p.R70Q|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	215					protein homooligomerization (GO:0051260)			p.R215Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AACACTATCCGATGTCAAGAT	0.378																																					p.R215Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	6						.						76.0	70.0	72.0					6																	36447474		2203	4300	6503	36555452	SO:0001583	missense	222658	exon5			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.644G>A	6.37:g.36447474G>A	ENSP00000362836:p.Arg215Gln		36555452	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085069	0.55861	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	T;T	0.81247	-1.47;-1.47	4.72	3.76	0.43208	BTB/POZ-like (1);BTB/POZ fold (2);	0.178769	0.34700	N	0.003742	T	0.48241	0.1489	L	0.31578	0.945	0.80722	D	1	P	0.42161	0.772	B	0.33392	0.163	T	0.58008	-0.7712	10	0.40728	T	0.16	-9.9284	3.8347	0.08889	0.3323:0.0:0.6677:0.0	.	215	Q7Z5Y7	KCD20_HUMAN	Q	215;70	ENSP00000362836:R215Q;ENSP00000439118:R70Q	ENSP00000362836:R215Q	R	+	2	0	KCTD20	36555452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.204000	0.72143	2.448000	0.82819	0.591000	0.81541	CGA		0.378	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	
STK38	11329	broad.mit.edu	37	6	36493413	36493413	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:36493413C>A	ENST00000229812.7	-	3	423	c.138G>T	c.(136-138)aaG>aaT	p.K46N		NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.K46N(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCTAACTTCTTTTGTCTAA	0.313																																					p.K46N	Colon(180;997 3561 16158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	6						.						203.0	172.0	182.0					6																	36493413		2202	4299	6501	36601391	SO:0001583	missense	11329	exon3				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.138G>T	6.37:g.36493413C>A	ENSP00000229812:p.Lys46Asn		36601391	NM_007271		Missense_Mutation	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193828	0.38707	.	.	ENSG00000112079	ENST00000229812	T	0.44482	0.92	5.69	5.69	0.88448	.	0.045886	0.85682	D	0.000000	T	0.22166	0.0534	L	0.35644	1.08	0.80722	D	1	B	0.32781	0.384	B	0.31337	0.128	T	0.05616	-1.0874	10	0.17369	T	0.5	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	46	Q15208	STK38_HUMAN	N	46	ENSP00000229812:K46N	ENSP00000229812:K46N	K	-	3	2	STK38	36601391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.525000	0.60559	2.683000	0.91414	0.655000	0.94253	AAG		0.313	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	
C6orf89	221477	broad.mit.edu	37	6	36887430	36887430	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:36887430G>A	ENST00000480824.2	+	8	1196	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	C6orf89_ENST00000359359.2_Missense_Mutation_p.R195Q|C6orf89_ENST00000355190.3_Missense_Mutation_p.R308Q|C6orf89_ENST00000373685.1_Missense_Mutation_p.R301Q|C6orf89_ENST00000510325.2_Missense_Mutation_p.R195Q			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	301					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R308Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TTCCAGTGCCGAAGACATTGT	0.512																																					p.R308Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	6						.						109.0	94.0	99.0					6																	36887430		2203	4300	6503	36995408	SO:0001583	missense	221477	exon7			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.902G>A	6.37:g.36887430G>A	ENSP00000475947:p.Arg301Gln		36995408	NM_152734	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219593	0.79464	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685	.	.	.	6.17	5.31	0.75309	.	0.207438	0.42682	N	0.000662	T	0.37972	0.1023	L	0.39397	1.21	0.42308	D	0.992208	D;D	0.67145	0.996;0.99	P;P	0.50537	0.643;0.525	T	0.25293	-1.0136	9	0.32370	T	0.25	0.1827	11.6356	0.51202	0.081:0.0:0.919:0.0	.	301;308	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	Q	195;195;308;301	.	ENSP00000347322:R308Q	R	+	2	0	C6orf89	36995408	0.997000	0.39634	1.000000	0.80357	0.759000	0.43091	0.985000	0.29578	1.630000	0.50440	0.655000	0.94253	CGA		0.512	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734	
CMTR1	23070	broad.mit.edu	37	6	37430662	37430662	+	Silent	SNP	C	C	T	rs542774031		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:37430662C>T	ENST00000373451.4	+	13	1547	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	461					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.F461F(1)									ATTACCTCTTCGCAGTGAATA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		21541	0.0		0.0	False		,,,				2504	0.001				p.F461F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1383T	6						.						211.0	174.0	186.0					6																	37430662		2203	4300	6503	37538640	SO:0001819	synonymous_variant	23070	exon13			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1383C>T	6.37:g.37430662C>T			37538640	NM_015050	A8K949|Q14670|Q96FJ9	Silent	SNP	ENST00000373451.4	37	CCDS4835.1																																																																																				0.512	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
CMTR1	23070	broad.mit.edu	37	6	37443954	37443954	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:37443954G>A	ENST00000373451.4	+	20	2253	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	697					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.D697N(1)									TAGTCGGCCCGACATGAATCC	0.547																																					p.D697N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2089A	6						.						122.0	116.0	118.0					6																	37443954		2203	4300	6503	37551932	SO:0001583	missense	23070	exon20			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2089G>A	6.37:g.37443954G>A	ENSP00000362550:p.Asp697Asn		37551932	NM_015050	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508422	0.85282	.	.	ENSG00000137200	ENST00000373451;ENST00000373420;ENST00000452299	D	0.84516	-1.86	5.39	5.39	0.77823	.	0.082444	0.85682	D	0.000000	T	0.76535	0.4001	M	0.75264	2.295	0.80722	D	1	P	0.43938	0.822	B	0.23419	0.046	T	0.82378	-0.0487	10	0.52906	T	0.07	-14.88	17.8968	0.88891	0.0:0.0:1.0:0.0	.	697	Q8N1G2	MTR1_HUMAN	N	697;104;41	ENSP00000362550:D697N	ENSP00000362519:D104N	D	+	1	0	FTSJD2	37551932	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.285000	0.95894	2.812000	0.96745	0.555000	0.69702	GAC		0.547	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
MDGA1	266727	broad.mit.edu	37	6	37619980	37619980	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:37619980C>A	ENST00000434837.3	-	7	2297	c.1119G>T	c.(1117-1119)aaG>aaT	p.K373N	MDGA1_ENST00000505425.1_Missense_Mutation_p.K373N|MDGA1_ENST00000297153.7_Missense_Mutation_p.K373N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	373	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.K373N(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCTTGCCATTCTTGAACCACT	0.582																																					p.K373N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1119T	6						.						77.0	82.0	80.0					6																	37619980		2118	4226	6344	37727958	SO:0001583	missense	266727	exon7			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1119G>T	6.37:g.37619980C>A	ENSP00000402584:p.Lys373Asn		37727958	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459233	0.84317	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.20463	2.07;2.07;2.07	5.25	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000066	T	0.40522	0.1120	M	0.87682	2.9	0.52099	D	0.999943	D	0.89917	1.0	D	0.87578	0.998	T	0.50617	-0.8807	10	0.87932	D	0	.	11.9734	0.53075	0.0:0.9154:0.0:0.0846	.	373	Q8NFP4	MDGA1_HUMAN	N	373	ENSP00000402584:K373N;ENSP00000297153:K373N;ENSP00000422042:K373N	ENSP00000297153:K373N	K	-	3	2	MDGA1	37727958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.628000	0.37060	1.186000	0.42985	0.655000	0.94253	AAG		0.582	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
MDGA1	266727	broad.mit.edu	37	6	37626117	37626117	+	Missense_Mutation	SNP	C	C	T	rs199521705		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:37626117C>T	ENST00000434837.3	-	3	1464	c.286G>A	c.(286-288)Gag>Aag	p.E96K	MDGA1_ENST00000505425.1_Missense_Mutation_p.E96K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E96K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	96	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.E96K(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCAATACGCTCGATGCGCAGC	0.652																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	6						.						66.0	76.0	73.0					6																	37626117		2125	4221	6346	37734095	SO:0001583	missense	266727	exon3			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.286G>A	6.37:g.37626117C>T	ENSP00000402584:p.Glu96Lys		37734095	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150253	0.57151	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437;ENST00000508399	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000132	T	0.42743	0.1216	N	0.14661	0.345	0.40412	D	0.979756	D	0.61697	0.99	P	0.51229	0.663	T	0.47005	-0.9150	10	0.06365	T	0.9	.	17.8109	0.88616	0.0:1.0:0.0:0.0	.	96	Q8NFP4	MDGA1_HUMAN	K	96;96;96;40;40	ENSP00000402584:E96K;ENSP00000297153:E96K;ENSP00000422042:E96K;ENSP00000421510:E40K;ENSP00000427645:E40K	ENSP00000297153:E96K	E	-	1	0	MDGA1	37734095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.063000	0.57499	2.515000	0.84797	0.655000	0.94253	GAG		0.652	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
DNAH8	1769	broad.mit.edu	37	6	38738325	38738325	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38738325G>T	ENST00000359357.3	+	10	1357	c.1103G>T	c.(1102-1104)aGa>aTa	p.R368I	DNAH8_ENST00000441566.1_Missense_Mutation_p.R368I|DNAH8_ENST00000449981.2_Missense_Mutation_p.R585I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	368					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R368I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTTGCAAAAGACTGGAGAAG	0.353																																					p.R368I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1103T	6						.						41.0	40.0	40.0					6																	38738325		2203	4300	6503	38846303	SO:0001583	missense	1769	exon10			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1103G>T	6.37:g.38738325G>T	ENSP00000352312:p.Arg368Ile		38846303	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.183734	0.78677	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.65364	-0.15;-0.15;-0.15	5.27	5.27	0.74061	Dynein heavy chain, domain-1 (1);	0.059450	0.64402	D	0.000007	T	0.78735	0.4330	M	0.87682	2.9	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	T	0.80538	-0.1338	10	0.51188	T	0.08	.	17.022	0.86436	0.0:0.0:1.0:0.0	.	368	Q96JB1	DYH8_HUMAN	I	573;573;368;368	ENSP00000333363:R573I;ENSP00000352312:R368I;ENSP00000402294:R368I	ENSP00000333363:R573I	R	+	2	0	DNAH8	38846303	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.545000	0.60698	2.624000	0.88883	0.643000	0.83706	AGA		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38754599	38754599	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38754599C>T	ENST00000359357.3	+	16	2057	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DNAH8_ENST00000441566.1_Silent_p.F601F|DNAH8_ENST00000449981.2_Silent_p.F818F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	601					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F601F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGTTAATTTCGATCCCAAAA	0.358																																					p.F601F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1803T	6						.						89.0	89.0	89.0					6																	38754599		2203	4300	6503	38862577	SO:0001819	synonymous_variant	1769	exon16			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1803C>T	6.37:g.38754599C>T			38862577	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38758142	38758142	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38758142C>T	ENST00000359357.3	+	18	2345	c.2091C>T	c.(2089-2091)gtC>gtT	p.V697V	DNAH8_ENST00000441566.1_Silent_p.V697V|DNAH8_ENST00000449981.2_Silent_p.V914V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	697					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V697V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAAGAAGTCGAATTAGTTT	0.333																																					p.V697V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2091T	6						.						126.0	119.0	121.0					6																	38758142		2203	4300	6503	38866120	SO:0001819	synonymous_variant	1769	exon18			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2091C>T	6.37:g.38758142C>T			38866120	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38775483	38775483	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38775483T>G	ENST00000359357.3	+	22	2851	c.2597T>G	c.(2596-2598)tTt>tGt	p.F866C	DNAH8_ENST00000441566.1_Missense_Mutation_p.F866C|DNAH8_ENST00000449981.2_Missense_Mutation_p.F1083C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	866					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F866C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGAATATTTGTTGCAAGG	0.299																																					p.F866C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2597G	6						.						95.0	95.0	95.0					6																	38775483		2203	4298	6501	38883461	SO:0001583	missense	1769	exon22			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2597T>G	6.37:g.38775483T>G	ENSP00000352312:p.Phe866Cys		38883461	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	14.00	2.403758	0.42613	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.86;1.85;1.82	6.07	4.91	0.64330	.	0.431769	0.27668	N	0.018345	T	0.16981	0.0408	L	0.50333	1.59	0.38610	D	0.950873	B	0.31640	0.333	B	0.42087	0.375	T	0.04811	-1.0925	10	0.38643	T	0.18	.	9.9806	0.41811	0.0:0.0773:0.0:0.9227	.	866	Q96JB1	DYH8_HUMAN	C	1071;1071;866;866	ENSP00000333363:F1071C;ENSP00000352312:F866C;ENSP00000402294:F866C	ENSP00000333363:F1071C	F	+	2	0	DNAH8	38883461	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.457000	0.45005	1.121000	0.41925	0.528000	0.53228	TTT		0.299	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38831813	38831813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38831813G>T	ENST00000359357.3	+	43	6078	c.5824G>T	c.(5824-5826)Gaa>Taa	p.E1942*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1942*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E2159*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1942	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E1942*(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTAAATCCAGAATTTGGAAT	0.289																																					p.E1942X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G5824T	6						.						67.0	68.0	68.0					6																	38831813		2202	4300	6502	38939791	SO:0001587	stop_gained	1769	exon43			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5824G>T	6.37:g.38831813G>T	ENSP00000352312:p.Glu1942*		38939791	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.901193|15.901193	0.99848|0.99848	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70911	.|0.3278	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69323	.|-0.5175	.|3	0.25751|.	T|.	0.34|.	.|.	19.3403|19.3403	0.94337|0.94337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	2147;2147;1942;1942|23	.|.	ENSP00000333363:E2147X|.	E|Q	+|+	1|3	0|2	DNAH8|DNAH8	38939791|38939791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.813000|9.813000	0.99286|0.99286	2.582000|2.582000	0.87167|0.87167	0.491000|0.491000	0.48974|0.48974	GAA|CAG		0.289	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38840734	38840734	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38840734G>T	ENST00000359357.3	+	49	6893	c.6639G>T	c.(6637-6639)gaG>gaT	p.E2213D	DNAH8_ENST00000441566.1_Missense_Mutation_p.E2177D|DNAH8_ENST00000449981.2_Missense_Mutation_p.E2430D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2213	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2213D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGGATTGAGAACTTAAATT	0.368																																					p.E2213D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6639T	6						.						76.0	77.0	77.0					6																	38840734		2203	4300	6503	38948712	SO:0001583	missense	1769	exon49			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6639G>T	6.37:g.38840734G>T	ENSP00000352312:p.Glu2213Asp		38948712	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	18.83	3.707774	0.68615	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.97041	-4.22;-4.22;-4.22	5.78	0.954	0.19595	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	H	0.94264	3.515	0.51012	D	0.999909	D	0.89917	1.0	D	0.97110	1.0	D	0.97887	1.0295	10	0.87932	D	0	.	9.312	0.37910	0.4111:0.0:0.5889:0.0	.	2213	Q96JB1	DYH8_HUMAN	D	2418;2418;2213;2177	ENSP00000333363:E2418D;ENSP00000352312:E2213D;ENSP00000402294:E2177D	ENSP00000333363:E2418D	E	+	3	2	DNAH8	38948712	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	1.607000	0.36836	0.089000	0.17243	-0.140000	0.14226	GAG		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38950164	38950164	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:38950164G>A	ENST00000359357.3	+	84	12480	c.12226G>A	c.(12226-12228)Gaa>Aaa	p.E4076K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E4040K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4076	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E4076K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTCCCTACGAATTCAATTC	0.358																																					p.E4076K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12226A	6						.						183.0	181.0	182.0					6																	38950164		2203	4300	6503	39058142	SO:0001583	missense	1769	exon84			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12226G>A	6.37:g.38950164G>A	ENSP00000352312:p.Glu4076Lys		39058142	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	36	5.902336	0.97087	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.11495	2.77;2.77;2.77	6.17	6.17	0.99709	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65565	-0.6137	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	4040;4076	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	K	4281;4076;4040	ENSP00000333363:E4281K;ENSP00000352312:E4076K;ENSP00000402294:E4040K	ENSP00000333363:E4281K	E	+	1	0	DNAH8	39058142	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.673000	0.98631	2.941000	0.99782	0.655000	0.94253	GAA		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
GLP1R	2740	broad.mit.edu	37	6	39024224	39024224	+	Missense_Mutation	SNP	C	C	T	rs201675748		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39024224C>T	ENST00000373256.4	+	2	173	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	44			R -> H (in dbSNP:rs2295006). {ECO:0000269|Ref.7}.		activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.R44C(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	AGAATACCGACGCCAGTGCCA	0.617																																					p.R44C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C130T	6						.						68.0	57.0	61.0					6																	39024224		2203	4300	6503	39132202	SO:0001583	missense	2740	exon2				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.130C>T	6.37:g.39024224C>T	ENSP00000362353:p.Arg44Cys		39132202	NM_002062	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657449	0.67586	.	.	ENSG00000112164	ENST00000373256	T	0.52983	0.64	5.53	5.53	0.82687	.	0.663516	0.14585	N	0.310599	T	0.35508	0.0934	L	0.50333	1.59	0.19300	N	0.999979	D	0.54207	0.965	P	0.46049	0.502	T	0.24225	-1.0166	10	0.46703	T	0.11	.	14.9658	0.71193	0.0:1.0:0.0:0.0	.	44	P43220	GLP1R_HUMAN	C	44	ENSP00000362353:R44C	ENSP00000362353:R44C	R	+	1	0	GLP1R	39132202	0.007000	0.16637	0.313000	0.25210	0.869000	0.49853	1.806000	0.38892	2.587000	0.87381	0.655000	0.94253	CGC		0.617	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
GLP1R	2740	broad.mit.edu	37	6	39040720	39040720	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39040720G>T	ENST00000373256.4	+	6	635	c.592G>T	c.(592-594)Gac>Tac	p.D198Y		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	198					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)	p.D198Y(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CTTCATCAAGGACGCAGCCCT	0.582																																					p.D198Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592T	6						.						197.0	156.0	170.0					6																	39040720		2203	4300	6503	39148698	SO:0001583	missense	2740	exon6				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.592G>T	6.37:g.39040720G>T	ENSP00000362353:p.Asp198Tyr		39148698	NM_002062	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991818	0.93106	.	.	ENSG00000112164	ENST00000373256	T	0.48522	0.81	5.71	5.71	0.89125	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	T	0.66528	0.2798	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68899	-0.5287	10	0.87932	D	0	.	19.8599	0.96779	0.0:0.0:1.0:0.0	.	198	P43220	GLP1R_HUMAN	Y	198	ENSP00000362353:D198Y	ENSP00000362353:D198Y	D	+	1	0	GLP1R	39148698	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.773000	0.98989	2.710000	0.92621	0.655000	0.94253	GAC		0.582	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
KCNK5	8645	broad.mit.edu	37	6	39159259	39159259	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39159259C>A	ENST00000359534.3	-	5	1245	c.907G>T	c.(907-909)Gac>Tac	p.D303Y		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	303					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D303Y(1)|p.D303N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTGATGAGGTCGTTGTAGGTC	0.627																																					p.D303Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G907T	6						.						128.0	131.0	130.0					6																	39159259		2203	4300	6503	39267237	SO:0001583	missense	8645	exon5			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.907G>T	6.37:g.39159259C>A	ENSP00000352527:p.Asp303Tyr		39267237	NM_003740	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639635	0.87760	.	.	ENSG00000164626	ENST00000359534	T	0.26067	1.76	5.7	5.7	0.88788	.	2.194870	0.01375	N	0.012711	T	0.42291	0.1196	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31833	-0.9929	10	0.87932	D	0	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	303	O95279	KCNK5_HUMAN	Y	303	ENSP00000352527:D303Y	ENSP00000352527:D303Y	D	-	1	0	KCNK5	39267237	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	GAC		0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	
KIF6	221458	broad.mit.edu	37	6	39325111	39325111	+	Missense_Mutation	SNP	G	G	A	rs372001923		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39325111G>A	ENST00000287152.7	-	19	2216	c.2122C>T	c.(2122-2124)Cca>Tca	p.P708S	KIF6_ENST00000394362.1_Missense_Mutation_p.P159S|KIF6_ENST00000373216.3_Missense_Mutation_p.P708S|KIF6_ENST00000229913.5_Missense_Mutation_p.P159S|KIF6_ENST00000373215.3_Missense_Mutation_p.P691S|KIF6_ENST00000541946.1_Missense_Mutation_p.P159S|KIF6_ENST00000538893.1_Missense_Mutation_p.P652S|KIF6_ENST00000373213.4_Missense_Mutation_p.P547S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	708					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P708S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGAGAAATGGCTTCGTGTGA	0.453																																					p.P708S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2122T	6						.						176.0	157.0	164.0					6																	39325111		2203	4300	6503	39433089	SO:0001583	missense	221458	exon19			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.2122C>T	6.37:g.39325111G>A	ENSP00000287152:p.Pro708Ser		39433089	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.784|8.784	0.929036|0.929036	0.18131|0.18131	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000540362|ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946	.|T;T;T;T;T;T;T;T	.|0.72051	.|-0.48;1.44;-0.48;-0.33;1.46;-0.5;-0.62;1.49	4.0|4.0	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34048	.|0.0884	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.14805	.|0.011;0.001;0.002;0.006	.|B;B;B;B	.|0.14578	.|0.011;0.002;0.007;0.005	.|T	.|0.20706	.|-1.0267	.|9	.|0.34782	.|T	.|0.22	.|.	5.0487|5.0487	0.14497|0.14497	0.304:0.0:0.696:0.0|0.304:0.0:0.696:0.0	.|.	.|691;652;708;708	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	.|S	-1|708;159;708;547;159;691;652;159	.|ENSP00000287152:P708S;ENSP00000377889:P159S;ENSP00000362312:P708S;ENSP00000362309:P547S;ENSP00000229913:P159S;ENSP00000362311:P691S;ENSP00000441435:P652S;ENSP00000439064:P159S	.|ENSP00000229913:P159S	.|P	-|-	.|1	.|0	KIF6|KIF6	39433089|39433089	0.000000|0.000000	0.05858|0.05858	0.025000|0.025000	0.17156|0.17156	0.010000|0.010000	0.07245|0.07245	-0.017000|-0.017000	0.12590|0.12590	0.569000|0.569000	0.29329|0.29329	0.655000|0.655000	0.94253|0.94253	.|CCA		0.453	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
KIF6	221458	broad.mit.edu	37	6	39507841	39507841	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39507841G>A	ENST00000287152.7	-	13	1677	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	KIF6_ENST00000373216.3_Missense_Mutation_p.P528L|KIF6_ENST00000373215.3_Missense_Mutation_p.P528L|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.P367L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	528					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P528L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCTGTGAGGGAGCTGAGGA	0.478																																					p.P528L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1583T	6						.						216.0	219.0	218.0					6																	39507841		2203	4300	6503	39615819	SO:0001583	missense	221458	exon13			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1583C>T	6.37:g.39507841G>A	ENSP00000287152:p.Pro528Leu		39615819	NM_145027	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.62|12.62	1.991538|1.991538	0.35131|0.35131	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|T	0.71341|0.72725	-0.56;-0.53;-0.36;-0.51|-0.68	6.04|6.04	5.17|5.17	0.71159|0.71159	.|.	.|.	.|.	.|.	.|.	T|T	0.48554|0.48554	0.1506|0.1506	L|L	0.50333|0.50333	1.59|1.59	0.28625|0.28625	N|N	0.907995|0.907995	B;B;B|.	0.18166|.	0.003;0.026;0.002|.	B;B;B|.	0.17433|.	0.009;0.018;0.004|.	T|T	0.45131|0.45131	-0.9282|-0.9282	9|7	0.21540|0.09843	T|T	0.41|0.71	.|.	11.6642|11.6642	0.51364|0.51364	0.0821:0.0:0.9179:0.0|0.0821:0.0:0.9179:0.0	.|.	528;528;528|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	L|S	528;528;367;528|420	ENSP00000287152:P528L;ENSP00000362312:P528L;ENSP00000362309:P367L;ENSP00000362311:P528L|ENSP00000409417:P420S	ENSP00000287152:P528L|ENSP00000409417:P420S	P|P	-|-	2|1	0|0	KIF6|KIF6	39615819|39615819	0.007000|0.007000	0.16637|0.16637	0.126000|0.126000	0.21872|0.21872	0.082000|0.082000	0.17680|0.17680	1.568000|1.568000	0.36418|0.36418	1.540000|1.540000	0.49301|0.49301	0.563000|0.563000	0.77884|0.77884	CCC|CCT		0.478	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
DAAM2	23500	broad.mit.edu	37	6	39869137	39869137	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:39869137C>A	ENST00000398904.2	+	24	3053	c.2871C>A	c.(2869-2871)ttC>ttA	p.F957L	DAAM2_ENST00000538976.1_Missense_Mutation_p.F956L|DAAM2_ENST00000274867.4_Missense_Mutation_p.F957L|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	957	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.F956L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAGACGAATTCTTTGGCATCT	0.582																																					p.F956L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2868A	6						.						146.0	148.0	147.0					6																	39869137		2054	4203	6257	39977115	SO:0001583	missense	23500	exon24			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2871C>A	6.37:g.39869137C>A	ENSP00000381876:p.Phe957Leu		39977115	NM_015345	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200304	0.79015	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.22539	1.95;1.95;1.95	5.5	3.37	0.38596	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.056331	0.64402	D	0.000001	T	0.25791	0.0628	M	0.73319	2.225	0.80722	D	1	D;P	0.55385	0.971;0.666	P;P	0.57911	0.829;0.562	T	0.03641	-1.1017	10	0.66056	D	0.02	.	9.5385	0.39237	0.0:0.7456:0.0:0.2544	.	956;957	G5EA45;Q86T65	.;DAAM2_HUMAN	L	957;957;956	ENSP00000274867:F957L;ENSP00000381876:F957L;ENSP00000437808:F956L	ENSP00000274867:F957L	F	+	3	2	DAAM2	39977115	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	1.075000	0.30716	1.309000	0.44985	0.655000	0.94253	TTC		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
UNC5CL	222643	broad.mit.edu	37	6	41002622	41002622	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:41002622G>T	ENST00000373164.1	-	1	252	c.192C>A	c.(190-192)gtC>gtA	p.V64V	UNC5CL_ENST00000244565.3_Silent_p.V64V|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	64					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.V64V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCTGCCTTGAGACCTCATTTT	0.582																																					p.V64V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192A	6						.						159.0	140.0	146.0					6																	41002622		2203	4300	6503	41110600	SO:0001819	synonymous_variant	222643	exon2			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.192C>A	6.37:g.41002622G>T			41110600	NM_173561	Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																				0.582	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
TREM2	54209	broad.mit.edu	37	6	41127535	41127535	+	Silent	SNP	G	G	T	rs546844731		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:41127535G>T	ENST00000373113.3	-	3	570	c.477C>A	c.(475-477)atC>atA	p.I159I	TREM2_ENST00000373122.4_Silent_p.I159I|TREM2_ENST00000338469.3_Silent_p.I159I	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	159					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.I159I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTACCTGGAGATGCTGTGCT	0.602																																					p.I159I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477A	6						.						66.0	63.0	64.0					6																	41127535		2203	4300	6503	41235513	SO:0001819	synonymous_variant	54209	exon3			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.477C>A	6.37:g.41127535G>T			41235513	NM_018965	Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	37	CCDS4852.1																																																																																				0.602	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965	
TREML4	285852	broad.mit.edu	37	6	41196546	41196546	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:41196546C>A	ENST00000341495.2	+	2	262	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	TREML4_ENST00000448827.2_Missense_Mutation_p.S53Y	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	53	Ig-like V-type.					extracellular region (GO:0005576)		p.S53Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCAAATCCTGGTGTCAG	0.527																																					p.S53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158A	6						.						87.0	83.0	85.0					6																	41196546		2203	4300	6503	41304524	SO:0001583	missense	285852	exon2			AF534826	CCDS34446.1	6p21.1	2013-01-11			ENSG00000188056	ENSG00000188056		"""Immunoglobulin superfamily / V-set domain containing"""	30807	protein-coding gene	gene with protein product	"""TREM like transcript 4"""	614664				12645956	Standard	NM_198153		Approved	TLT4	uc003oqc.3	Q6UXN2	OTTHUMG00000016408	ENST00000341495.2:c.158C>A	6.37:g.41196546C>A	ENSP00000342570:p.Ser53Tyr		41304524	NM_198153	B7ZL92	Missense_Mutation	SNP	ENST00000341495.2	37	CCDS34446.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.230404	0.39399	.	.	ENSG00000188056	ENST00000341495;ENST00000445267;ENST00000448827	T;T	0.64085	-0.08;-0.08	4.35	1.37	0.22104	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24084	0.0583	N	0.03115	-0.41	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.33727	-0.9857	9	0.02654	T	1	-1.8341	2.9787	0.05946	0.1816:0.5391:0.1765:0.1027	.	53	Q6UXN2	TRML4_HUMAN	Y	53	ENSP00000342570:S53Y;ENSP00000418078:S53Y	ENSP00000342570:S53Y	S	+	2	0	TREML4	41304524	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.555000	0.05999	0.425000	0.26087	0.591000	0.81541	TCC		0.527	TREML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043873.2		
PRICKLE4	29964	broad.mit.edu	37	6	41754642	41754642	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:41754642G>T	ENST00000394260.1	+	5	810	c.810G>T	c.(808-810)gaG>gaT	p.E270D	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.E310D|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.E310D|TOMM6_ENST00000398884.3_5'Flank|TOMM6_ENST00000398881.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	270						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E310D(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCAGCAGGAGAACCGACCTG	0.627											OREG0017435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E310D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G930T	6						.						91.0	104.0	100.0					6																	41754642		2203	4300	6503	41862620	SO:0001583	missense	29964	exon8			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.810G>T	6.37:g.41754642G>T	ENSP00000377803:p.Glu270Asp	903	41862620	NM_013397	A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37		.	.	.	.	.	.	.	.	.	.	G	6.136	0.393382	0.11638	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	D;D;D	0.84730	-1.89;-1.89;-1.89	3.58	-0.483	0.12075	.	0.165275	0.28527	N	0.015038	T	0.49592	0.1566	N	0.20986	0.625	0.27833	N	0.94137	B	0.02656	0.0	B	0.09377	0.004	T	0.43669	-0.9377	10	0.18276	T	0.48	-6.5822	7.2191	0.25977	0.4311:0.0:0.5689:0.0	.	310	Q2TBC4-3	.	D	310;310;270	ENSP00000404911:E310D;ENSP00000377806:E310D;ENSP00000377803:E270D	ENSP00000335185:E310D	E	+	3	2	PRICKLE4	41862620	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.007000	0.12810	-0.268000	0.09312	-1.069000	0.02264	GAG		0.627	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1	NM_013397	
TAF8	129685	broad.mit.edu	37	6	42036321	42036321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42036321G>T	ENST00000372977.3	+	7	774	c.756G>T	c.(754-756)gaG>gaT	p.E252D	TAF8_ENST00000372982.4_Missense_Mutation_p.E252D|TAF8_ENST00000494547.1_Missense_Mutation_p.E252D|TAF8_ENST00000465926.1_Missense_Mutation_p.E176D|TAF8_ENST00000456846.2_Missense_Mutation_p.E252D	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	252					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)		p.E252D(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CAGACACAGAGAACCTTGCTC	0.527																																					p.E252D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G756T	6						.						178.0	187.0	184.0					6																	42036321		2073	4204	6277	42144299	SO:0001583	missense	129685	exon7			AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.756G>T	6.37:g.42036321G>T	ENSP00000362068:p.Glu252Asp		42144299	NM_138572	Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476974	0.44044	.	.	ENSG00000137413	ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000465926	.	.	.	6.05	4.27	0.50696	.	0.044468	0.85682	D	0.000000	T	0.25754	0.0627	L	0.28556	0.865	0.80722	D	1	B;B;B;B	0.22683	0.005;0.01;0.073;0.002	B;B;B;B	0.20767	0.003;0.009;0.031;0.003	T	0.09751	-1.0660	9	0.18710	T	0.47	-31.0245	12.0482	0.53491	0.1392:0.0:0.8608:0.0	.	176;252;252;252	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8	.;.;.;TAF8_HUMAN	D	252;252;252;252;176	.	ENSP00000362068:E252D	E	+	3	2	TAF8	42144299	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.612000	0.54142	1.580000	0.49851	0.650000	0.86243	GAG		0.527	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572	
GUCA1A	2978	broad.mit.edu	37	6	42141420	42141420	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42141420G>T	ENST00000394237.1	+	3	1045	c.69G>T	c.(67-69)aaG>aaT	p.K23N	GUCA1A_ENST00000053469.4_Missense_Mutation_p.K23N|GUCA1A_ENST00000541991.1_Missense_Mutation_p.K23N|GUCA1A_ENST00000372958.1_Missense_Mutation_p.K23N			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.K23N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTGGTACAAGAAGTTCATGA	0.592																																					p.K23N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G69T	6						.						148.0	123.0	131.0					6																	42141420		2203	4300	6503	42249398	SO:0001583	missense	2978	exon3				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.69G>T	6.37:g.42141420G>T	ENSP00000377784:p.Lys23Asn		42249398	NM_000409	B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384971	0.42308	.	.	ENSG00000048545	ENST00000418175;ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.75	3.96	0.45880	EF-hand-like domain (1);	0.111694	0.64402	D	0.000007	T	0.68384	0.2995	M	0.75150	2.29	0.50632	D	0.999888	D	0.71674	0.998	P	0.57468	0.821	T	0.73936	-0.3825	10	0.87932	D	0	.	10.0034	0.41942	0.1631:0.0:0.8369:0.0	.	23	P43080	GUC1A_HUMAN	N	23;23;19;23;23;23	ENSP00000388438:K23N;ENSP00000437476:K23N;ENSP00000053469:K23N;ENSP00000377784:K23N;ENSP00000362049:K23N	ENSP00000053469:K23N	K	+	3	2	GUCA1A	42249398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.544000	0.53640	1.426000	0.47256	0.655000	0.94253	AAG		0.592	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1		
UBR2	23304	broad.mit.edu	37	6	42574351	42574351	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42574351G>T	ENST00000372899.1	+	7	1084	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	UBR2_ENST00000372903.2_Missense_Mutation_p.D276Y|UBR2_ENST00000372901.1_Missense_Mutation_p.D276Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	276					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D276Y(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCGATATGGAGATTTTCAGTA	0.259																																					p.D276Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826T	6						.						71.0	76.0	75.0					6																	42574351		2203	4287	6490	42682329	SO:0001583	missense	23304	exon7			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.826G>T	6.37:g.42574351G>T	ENSP00000361990:p.Asp276Tyr		42682329	NM_001184801	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251146	0.80135	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73897	-0.79;0.19;0.19	5.48	5.48	0.80851	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.047740	0.85682	D	0.000000	T	0.66228	0.2768	L	0.38175	1.15	0.80722	D	1	B;P	0.42296	0.162;0.775	B;P	0.45343	0.315;0.477	T	0.70655	-0.4812	10	0.56958	D	0.05	-1.5858	19.3648	0.94458	0.0:0.0:1.0:0.0	.	276;276	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	Y	276	ENSP00000361994:D276Y;ENSP00000361990:D276Y;ENSP00000361992:D276Y	ENSP00000361990:D276Y	D	+	1	0	UBR2	42682329	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.421000	0.97455	2.569000	0.86673	0.557000	0.71058	GAT		0.259	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	broad.mit.edu	37	6	42600420	42600420	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42600420T>G	ENST00000372899.1	+	12	1670	c.1412T>G	c.(1411-1413)tTt>tGt	p.F471C	UBR2_ENST00000372901.1_Missense_Mutation_p.F471C|UBR2_ENST00000372883.3_5'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	471					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F471C(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GCCTTCAAATTTAGGAGAGTA	0.328																																					p.F471C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1412G	6						.						73.0	75.0	75.0					6																	42600420		2203	4300	6503	42708398	SO:0001583	missense	23304	exon12			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1412T>G	6.37:g.42600420T>G	ENSP00000361990:p.Phe471Cys		42708398	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430800	0.83776	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.65732	-0.17;-0.17	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.75554	-0.3277	10	0.38643	T	0.18	-12.9727	15.4672	0.75409	0.0:0.0:0.0:1.0	.	471;471	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	C	471	ENSP00000361990:F471C;ENSP00000361992:F471C	ENSP00000361990:F471C	F	+	2	0	UBR2	42708398	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.104000	0.64026	0.533000	0.62120	TTT		0.328	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
UBR2	23304	broad.mit.edu	37	6	42658815	42658815	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42658815T>G	ENST00000372899.1	+	47	5430	c.5172T>G	c.(5170-5172)atT>atG	p.I1724M	UBR2_ENST00000372901.1_Missense_Mutation_p.I1724M|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1724					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I1724M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCAAGAAGATTCAGAAGCTCT	0.403																																					p.I1724M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5172G	6						.						106.0	104.0	105.0					6																	42658815		2203	4300	6503	42766793	SO:0001583	missense	23304	exon47			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5172T>G	6.37:g.42658815T>G	ENSP00000361990:p.Ile1724Met		42766793	NM_015255	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063586	0.76187	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.52295	0.67;0.67	5.76	-7.72	0.01250	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	N	0.17631	0.505	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.992	D;D;D	0.74674	0.984;0.975;0.923	T	0.57562	-0.7790	10	0.62326	D	0.03	-17.5919	9.3931	0.38386	0.2108:0.5362:0.0:0.2529	.	312;1724;1724	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	M	1724	ENSP00000361990:I1724M;ENSP00000361992:I1724M	ENSP00000361990:I1724M	I	+	3	3	UBR2	42766793	0.131000	0.22433	0.809000	0.32408	0.998000	0.95712	-0.544000	0.06077	-1.273000	0.02424	0.528000	0.53228	ATT		0.403	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255	
GLTSCR1L	23506	broad.mit.edu	37	6	42797492	42797492	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42797492C>A	ENST00000314073.5	+	6	1597	c.1421C>A	c.(1420-1422)tCt>tAt	p.S474Y	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S474Y			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	474								p.S474Y(1)									CACTTAGTGTCTGGGCAGACA	0.502																																					p.S474Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1421A	6						.						130.0	116.0	121.0					6																	42797492		2203	4300	6503	42905470	SO:0001583	missense	23506	exon5			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1421C>A	6.37:g.42797492C>A	ENSP00000313933:p.Ser474Tyr		42905470	NM_015349	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429122	0.62844	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.50277	0.75;0.75	5.77	5.77	0.91146	.	0.162830	0.44902	D	0.000420	T	0.49643	0.1569	L	0.51422	1.61	0.53005	D	0.999962	D;P;P	0.69078	0.997;0.946;0.955	D;P;P	0.80764	0.994;0.808;0.714	T	0.40421	-0.9564	10	0.02654	T	1	-7.7862	20.3627	0.98863	0.0:1.0:0.0:0.0	.	474;474;474	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	Y	474	ENSP00000313933:S474Y;ENSP00000377723:S474Y	ENSP00000313933:S474Y	S	+	2	0	KIAA0240	42905470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.759000	0.62227	2.885000	0.99019	0.655000	0.94253	TCT		0.502	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	
PEX6	5190	broad.mit.edu	37	6	42936079	42936079	+	Missense_Mutation	SNP	C	C	T	rs201061728		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42936079C>T	ENST00000304611.8	-	7	1706	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	PEX6_ENST00000244546.4_Missense_Mutation_p.R546H	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	546					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.R546H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGCCATCACACGGGCATCCTC	0.657																																					p.R546H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1637A	6						.	C	HIS/ARG	0,4406		0,0,2203	47.0	50.0	49.0		1637	5.0	1.0	6		49	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PEX6	NM_000287.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	546/981	42936079	1,13005	2203	4300	6503	43044057	SO:0001583	missense	5190	exon7			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1637G>A	6.37:g.42936079C>T	ENSP00000303511:p.Arg546His		43044057	NM_000287	Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413303	0.62511	0.0	1.16E-4	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.94046	-3.34;-3.34	6.08	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047618	0.85682	D	0.000000	D	0.88786	0.6531	M	0.62016	1.91	0.44754	D	0.997753	B	0.32425	0.371	B	0.31614	0.133	D	0.88694	0.3211	10	0.54805	T	0.06	-12.2189	13.2209	0.59887	0.0:0.9129:0.0:0.0871	.	546	Q13608	PEX6_HUMAN	H	546	ENSP00000303511:R546H;ENSP00000244546:R546H	ENSP00000244546:R546H	R	-	2	0	PEX6	43044057	0.997000	0.39634	0.997000	0.53966	0.979000	0.70002	3.865000	0.56033	2.894000	0.99253	0.655000	0.94253	CGT		0.657	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287	
MEA1	4201	broad.mit.edu	37	6	42980278	42980278	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42980278G>A	ENST00000244711.3	-	4	642	c.488C>T	c.(487-489)tCg>tTg	p.S163L	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	163					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.S163L(1)		central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGGGCATCCGATATCTCCCG	0.567																																					p.S163L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C488T	6						.						102.0	102.0	102.0					6																	42980278		2203	4300	6503	43088256	SO:0001583	missense	4201	exon4				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.488C>T	6.37:g.42980278G>A	ENSP00000244711:p.Ser163Leu		43088256	NM_014623	Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632967	0.87660	.	.	ENSG00000124733	ENST00000244711	T	0.54866	0.55	6.17	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.29850	0.0746	L	0.34521	1.04	0.58432	D	0.999994	B	0.26775	0.159	B	0.23852	0.049	T	0.28299	-1.0048	10	0.87932	D	0	-8.8802	15.3678	0.74538	0.0671:0.0:0.9329:0.0	.	163	Q16626	MEA1_HUMAN	L	163	ENSP00000244711:S163L	ENSP00000244711:S163L	S	-	2	0	MEA1	43088256	1.000000	0.71417	0.662000	0.29724	0.996000	0.88848	7.109000	0.77062	1.630000	0.50440	0.655000	0.94253	TCG		0.567	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2		
RRP36	88745	broad.mit.edu	37	6	42992793	42992793	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42992793A>C	ENST00000244496.5	+	2	211	c.201A>C	c.(199-201)caA>caC	p.Q67H		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	67					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q67H(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CGTACAAACAATTGGTAGCTG	0.458																																					p.Q67H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A201C	6						.						136.0	116.0	123.0					6																	42992793		2203	4300	6503	43100771	SO:0001583	missense	88745	exon2			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.201A>C	6.37:g.42992793A>C	ENSP00000244496:p.Gln67His		43100771	NM_033112	Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577598	0.28180	.	.	ENSG00000124541	ENST00000244496	T	0.46451	0.87	4.82	-5.45	0.02616	.	0.376667	0.26594	N	0.023506	T	0.09905	0.0243	N	0.24115	0.695	0.19575	N	0.999969	P	0.45283	0.855	B	0.41510	0.359	T	0.27157	-1.0082	10	0.62326	D	0.03	.	6.5772	0.22573	0.2084:0.0:0.5059:0.2858	.	67	Q96EU6	RRP36_HUMAN	H	67	ENSP00000244496:Q67H	ENSP00000244496:Q67H	Q	+	3	2	RRP36	43100771	0.000000	0.05858	0.124000	0.21820	0.263000	0.26337	-1.860000	0.01656	-0.839000	0.04212	-0.379000	0.06801	CAA		0.458	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
RRP36	88745	broad.mit.edu	37	6	42993034	42993034	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:42993034A>G	ENST00000244496.5	+	3	322	c.312A>G	c.(310-312)ccA>ccG	p.P104P		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	104					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P104P(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCCGAGTACCATTTTTACGTC	0.507																																					p.P104P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A312G	6						.						113.0	110.0	111.0					6																	42993034		2203	4300	6503	43101012	SO:0001819	synonymous_variant	88745	exon3			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.312A>G	6.37:g.42993034A>G			43101012	NM_033112	Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	CCDS34453.1																																																																																				0.507	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112	
PTK7	5754	broad.mit.edu	37	6	43109416	43109416	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43109416C>T	ENST00000230419.4	+	11	1850	c.1629C>T	c.(1627-1629)agC>agT	p.S543S	PTK7_ENST00000345201.2_Silent_p.S503S|PTK7_ENST00000349241.2_Silent_p.S413S|PTK7_ENST00000481273.1_Silent_p.S551S|PTK7_ENST00000352931.2_Silent_p.S543S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	543	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S543S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ATGGGAGCAGCCTCCCAGAGT	0.557																																					p.S503S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1509T	6						.						118.0	117.0	117.0					6																	43109416		2203	4300	6503	43217394	SO:0001819	synonymous_variant	5754	exon10			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1629C>T	6.37:g.43109416C>T			43217394	NM_152880	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	CCDS4884.1																																																																																				0.557	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
PTK7	5754	broad.mit.edu	37	6	43127601	43127601	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43127601C>A	ENST00000230419.4	+	19	3170	c.2949C>A	c.(2947-2949)ttC>ttA	p.F983L	PTK7_ENST00000345201.2_Missense_Mutation_p.F943L|PTK7_ENST00000352931.2_Missense_Mutation_p.F927L|PTK7_ENST00000349241.2_Missense_Mutation_p.F853L|PTK7_ENST00000481273.1_Missense_Mutation_p.F991L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	983	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F983L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGGTGACTTCTCTACCAAGT	0.592																																					p.F943L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2829A	6						.						148.0	116.0	127.0					6																	43127601		2203	4300	6503	43235579	SO:0001583	missense	5754	exon18			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2949C>A	6.37:g.43127601C>A	ENSP00000230419:p.Phe983Leu		43235579	NM_152880	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.868890|3.868890	0.72065|0.72065	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339|ENST00000489707	D;D;D;D;D;D|.	0.88896|.	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44|.	5.59|5.59	3.82|3.82	0.43975|0.43975	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.053035|.	0.85682|.	D|.	0.000000|.	T|T	0.45677|0.45677	0.1354|0.1354	L|L	0.48362|0.48362	1.52|1.52	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B;P;B;P|.	0.43578|.	0.642;0.025;0.767;0.383;0.811;0.383;0.587|.	P;B;P;B;B;B;B|.	0.47376|.	0.53;0.016;0.545;0.219;0.227;0.219;0.268|.	T|T	0.40194|0.40194	-0.9576|-0.9576	10|5	0.40728|.	T|.	0.16|.	.|.	12.3187|12.3187	0.54973|0.54973	0.0:0.8619:0.0:0.1381|0.0:0.8619:0.0:0.1381	.|.	991;309;328;853;943;927;983|.	E9PFZ5;F8W9X8;B3KP36;Q13308-3;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;.;.;PTK7_HUMAN|.	L|Y	983;309;853;927;943;991;251|278	ENSP00000230419:F983L;ENSP00000325462:F853L;ENSP00000326029:F927L;ENSP00000325992:F943L;ENSP00000418754:F991L;ENSP00000420186:F251L|.	ENSP00000230419:F983L|.	F|S	+|+	3|2	2|0	PTK7|PTK7	43235579|43235579	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	3.237000|3.237000	0.51344|0.51344	0.834000|0.834000	0.34852|0.34852	-0.229000|-0.229000	0.12294|0.12294	TTC|TCT		0.592	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
CUL9	23113	broad.mit.edu	37	6	43164514	43164514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43164514G>T	ENST00000252050.4	+	11	2801	c.2717G>T	c.(2716-2718)aGa>aTa	p.R906I	CUL9_ENST00000372647.2_Missense_Mutation_p.R906I|CUL9_ENST00000354495.3_Missense_Mutation_p.R796I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	906					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R906I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATAGCACCAAGAACAGAACCT	0.532																																					p.R906I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2717T	6						.						190.0	156.0	168.0					6																	43164514		2203	4300	6503	43272492	SO:0001583	missense	23113	exon11			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2717G>T	6.37:g.43164514G>T	ENSP00000252050:p.Arg906Ile		43272492	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182807	0.38511	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74002	-0.8;-0.79;-0.69	5.61	5.61	0.85477	Armadillo-type fold (1);	1.074150	0.07014	N	0.825604	T	0.44201	0.1282	N	0.08118	0	0.29945	N	0.820769	P;B;B	0.44578	0.838;0.001;0.001	B;B;B	0.37550	0.253;0.0;0.0	T	0.47873	-0.9083	10	0.52906	T	0.07	-17.5939	15.1351	0.72558	0.0:0.0:1.0:0.0	.	796;906;906	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	I	906;796;906	ENSP00000252050:R906I;ENSP00000346490:R796I;ENSP00000361730:R906I	ENSP00000252050:R906I	R	+	2	0	CUL9	43272492	0.995000	0.38212	1.000000	0.80357	0.236000	0.25371	4.240000	0.58701	2.656000	0.90262	0.655000	0.94253	AGA		0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
TTBK1	84630	broad.mit.edu	37	6	43221049	43221049	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43221049T>C	ENST00000259750.4	+	4	360	c.277T>C	c.(277-279)Ttc>Ctc	p.F93L	TTBK1_ENST00000304139.5_Missense_Mutation_p.F42L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F93L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGTGCAGGTTCATTGGCTG	0.532																																					p.F93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T277C	6						.						162.0	134.0	143.0					6																	43221049		2203	4300	6503	43329027	SO:0001583	missense	84630	exon4			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.277T>C	6.37:g.43221049T>C	ENSP00000259750:p.Phe93Leu		43329027	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151114	0.57151	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.14766	2.48	4.76	2.19	0.27852	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063358	0.64402	D	0.000004	T	0.10465	0.0256	L	0.27053	0.805	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.08371	-1.0725	10	0.54805	T	0.06	.	6.0023	0.19527	0.1445:0.0848:0.0:0.7706	.	93	Q5TCY1	TTBK1_HUMAN	L	42;93;42	ENSP00000259750:F93L	ENSP00000259750:F93L	F	+	1	0	TTBK1	43329027	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.588000	0.82629	0.618000	0.30179	0.379000	0.24179	TTC		0.532	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
TTBK1	84630	broad.mit.edu	37	6	43222820	43222820	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43222820C>T	ENST00000259750.4	+	7	693	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R153C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R204C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGAACGGTTCGCTATGCCTC	0.622																																					p.R204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610T	6						.						139.0	105.0	117.0					6																	43222820		2203	4300	6503	43330798	SO:0001583	missense	84630	exon7			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.610C>T	6.37:g.43222820C>T	ENSP00000259750:p.Arg204Cys		43330798	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375935	0.82682	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.06608	3.28	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.42172	-0.9467	10	0.87932	D	0	.	11.8928	0.52638	0.1748:0.8252:0.0:0.0	.	204	Q5TCY1	TTBK1_HUMAN	C	153;204;153	ENSP00000259750:R204C	ENSP00000259750:R204C	R	+	1	0	TTBK1	43330798	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	5.551000	0.67274	2.242000	0.73789	0.655000	0.94253	CGC		0.622	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
TTBK1	84630	broad.mit.edu	37	6	43223519	43223519	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43223519G>A	ENST00000259750.4	+	9	869	c.786G>A	c.(784-786)aaG>aaA	p.K262K	TTBK1_ENST00000304139.5_Silent_p.K211K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K262K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGCTGCTGAAGCACATGCCGT	0.597																																					p.K262K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	6						.						186.0	136.0	153.0					6																	43223519		2203	4300	6503	43331497	SO:0001819	synonymous_variant	84630	exon9			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.786G>A	6.37:g.43223519G>A			43331497	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	CCDS34455.1																																																																																				0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
SLC22A7	10864	broad.mit.edu	37	6	43266468	43266468	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43266468C>A	ENST00000372585.5	+	1	467	c.372C>A	c.(370-372)ttC>ttA	p.F124L	SLC22A7_ENST00000372589.3_Missense_Mutation_p.F124L|SLC22A7_ENST00000372574.3_Missense_Mutation_p.F124L|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	124					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.F124L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ACTCAGAATTCTCCTCTACCA	0.552																																					p.F124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C372A	6						.						62.0	65.0	64.0					6																	43266468		2203	4300	6503	43374446	SO:0001583	missense	10864	exon1			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.372C>A	6.37:g.43266468C>A	ENSP00000361666:p.Phe124Leu		43374446	NM_006672	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267368	0.80469	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.79141	0.69;-1.24;-1.24;-1.24	5.63	3.85	0.44370	Major facilitator superfamily domain (1);	0.227866	0.46145	D	0.000304	T	0.78355	0.4270	M	0.61703	1.905	0.40706	D	0.982528	D;D;D	0.60160	0.987;0.983;0.983	D;P;P	0.63381	0.914;0.86;0.86	T	0.80417	-0.1391	10	0.72032	D	0.01	.	10.1217	0.42625	0.0:0.8362:0.0:0.1638	.	124;124;124	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	L	124	ENSP00000411818:F124L;ENSP00000361670:F124L;ENSP00000361666:F124L;ENSP00000361655:F124L	ENSP00000361655:F124L	F	+	3	2	SLC22A7	43374446	0.900000	0.30661	1.000000	0.80357	0.931000	0.56810	0.757000	0.26433	0.736000	0.32559	0.563000	0.77884	TTC		0.552	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1		
ZNF318	24149	broad.mit.edu	37	6	43325277	43325277	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43325277C>A	ENST00000361428.2	-	3	852	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C	ZNF318_ENST00000318149.3_Missense_Mutation_p.G259C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	259					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G259C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATGGAGTAGCCTTTGAGTTTT	0.458																																					p.G259C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775T	6						.						111.0	105.0	107.0					6																	43325277		2203	4300	6503	43433255	SO:0001583	missense	24149	exon3			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.775G>T	6.37:g.43325277C>A	ENSP00000354964:p.Gly259Cys		43433255	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330320	0.60743	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03496	3.91;3.91	5.62	2.12	0.27331	.	0.980070	0.08370	N	0.956332	T	0.01489	0.0048	N	0.08118	0	0.26524	N	0.97439	D	0.63880	0.993	P	0.53360	0.724	T	0.50423	-0.8830	10	0.72032	D	0.01	-0.0173	7.6053	0.28100	0.0:0.4965:0.0:0.5035	.	259	Q5VUA4	ZN318_HUMAN	C	259	ENSP00000323032:G259C;ENSP00000354964:G259C	ENSP00000323032:G259C	G	-	1	0	ZNF318	43433255	0.961000	0.32948	0.977000	0.42913	0.990000	0.78478	0.799000	0.27028	0.103000	0.17682	0.555000	0.69702	GGC		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
XPO5	57510	broad.mit.edu	37	6	43521127	43521127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43521127G>A	ENST00000265351.7	-	14	1765	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	519					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.R519*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TTTAGTGTTCGAAACATCTGG	0.388																																					p.R519X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1555T	6						.						65.0	64.0	64.0					6																	43521127		1888	4109	5997	43629105	SO:0001587	stop_gained	57510	exon14			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1555C>T	6.37:g.43521127G>A	ENSP00000265351:p.Arg519*		43629105	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Nonsense_Mutation	SNP	ENST00000265351.7	37	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	G	38	7.134127	0.98085	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372252;ENST00000372258;ENST00000439465	.	.	.	5.36	4.47	0.54385	.	0.139039	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-3.8447	15.2204	0.73306	0.0:0.0:0.8581:0.1419	.	.	.	.	X	519;224;59;59;147	.	ENSP00000265351:R519X	R	-	1	2	XPO5	43629105	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.857000	0.62939	1.209000	0.43321	0.655000	0.94253	CGA		0.388	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	
POLH	5429	broad.mit.edu	37	6	43581501	43581501	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43581501C>A	ENST00000372236.4	+	11	1644	c.1349C>A	c.(1348-1350)tCt>tAt	p.S450Y	POLH_ENST00000535400.1_Missense_Mutation_p.S388Y|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S450Y(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACCCAAGTTCTCTGCCAAAG	0.507								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																												p.S450Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1349A	6						.						89.0	92.0	91.0					6																	43581501		2203	4300	6503	43689479	SO:0001583	missense	5429	exon11	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1349C>A	6.37:g.43581501C>A	ENSP00000361310:p.Ser450Tyr		43689479	NM_006502	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	C	8.631	0.893635	0.17613	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.60424	0.32;0.19	5.41	2.4	0.29515	.	0.865218	0.10555	N	0.660914	T	0.39118	0.1066	M	0.63843	1.955	0.80722	D	1	B;B	0.16396	0.004;0.017	B;B	0.15484	0.013;0.009	T	0.40440	-0.9563	10	0.37606	T	0.19	-25.4071	13.0809	0.59114	0.0:0.5039:0.4961:0.0	.	388;450	B4DG64;Q9Y253	.;POLH_HUMAN	Y	450;388	ENSP00000361310:S450Y;ENSP00000442102:S388Y	ENSP00000361310:S450Y	S	+	2	0	POLH	43689479	0.017000	0.18338	0.639000	0.29394	0.471000	0.32888	0.596000	0.24044	0.735000	0.32537	-0.440000	0.05779	TCT		0.507	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502	
RSPH9	221421	broad.mit.edu	37	6	43623416	43623416	+	Missense_Mutation	SNP	C	C	T	rs139002825		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43623416C>T	ENST00000372163.4	+	3	564	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	RSPH9_ENST00000372165.4_Missense_Mutation_p.R156W	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	171					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.R171W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCATGTCAATCGGACCTTTGA	0.572									Kartagener syndrome																												p.R156W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C466T	6						.	C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	134.0	133.0		466,511	4.6	1.0	6	dbSNP_134	133	0,8600		0,0,4300	no	missense,missense	RSPH9	NM_001193341.1,NM_152732.4	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	156/307,171/277	43623416	1,13005	2203	4300	6503	43731394	SO:0001583	missense	221421	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.511C>T	6.37:g.43623416C>T	ENSP00000361236:p.Arg171Trp		43731394	NM_001193341	A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.714898|3.714898	0.68844|0.68844	2.27E-4|2.27E-4	0.0|0.0	ENSG00000172426|ENSG00000172426	ENST00000372165;ENST00000372163;ENST00000372154|ENST00000417236	T|.	0.48201|.	0.82|.	5.58|5.58	4.63|4.63	0.57726|0.57726	.|.	0.054900|.	0.64402|.	D|.	0.000001|.	T|T	0.67869|0.67869	0.2939|0.2939	M|M	0.79475|0.79475	2.455|2.455	0.48632|0.48632	D|D	0.999684|0.999684	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.975;0.996|.	T|T	0.69083|0.69083	-0.5239|-0.5239	10|5	0.72032|.	D|.	0.01|.	-17.4249|-17.4249	12.6176|12.6176	0.56586|0.56586	0.1981:0.8019:0.0:0.0|0.1981:0.8019:0.0:0.0	.|.	156;171|.	Q96NH9;Q9H1X1|.	.;RSPH9_HUMAN|.	W|L	156;171;139|95	ENSP00000361236:R171W|.	ENSP00000361227:R139W|.	R|S	+|+	1|2	2|0	RSPH9|RSPH9	43731394|43731394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	2.384000|2.384000	0.44362|0.44362	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	CGG|TCG		0.572	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732	
RSPH9	221421	broad.mit.edu	37	6	43638535	43638535	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43638535G>T	ENST00000372163.4	+	5	733	c.680G>T	c.(679-681)aGc>aTc	p.S227I	RSPH9_ENST00000372165.4_Missense_Mutation_p.E244D	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	227					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.S227I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGTCCTGGAGCATCCAGATG	0.637									Kartagener syndrome																												p.E244D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G732T	6						.						73.0	63.0	67.0					6																	43638535		2203	4300	6503	43746513	SO:0001583	missense	221421	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.680G>T	6.37:g.43638535G>T	ENSP00000361236:p.Ser227Ile		43746513	NM_001193341	A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.862024|4.862024	0.91433|0.91433	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000372165|ENST00000372163	.|T	.|0.17691	.|2.26	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.059957|.	0.64402|.	D|.	0.000003|.	T|T	0.33147|0.33147	0.0853|0.0853	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.65815	1.0|0.995	D|D	0.83275|0.66602	0.996|0.945	T|T	0.00809|0.00809	-1.1557|-1.1557	8|8	0.08179|0.48119	T|T	0.78|0.1	-13.3297|-13.3297	17.9218|17.9218	0.88969|0.88969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244|227	Q96NH9|Q9H1X1	.|RSPH9_HUMAN	D|I	244|227	.|ENSP00000361236:S227I	ENSP00000361238:E244D|ENSP00000361236:S227I	E|S	+|+	3|2	2|0	RSPH9|RSPH9	43746513|43746513	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.914000|0.914000	0.54420|0.54420	4.874000|4.874000	0.63064|0.63064	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|AGC		0.637	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732	
MRPS18A	55168	broad.mit.edu	37	6	43642962	43642962	+	Silent	SNP	C	C	T	rs571547048		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:43642962C>T	ENST00000372133.3	-	5	434	c.423G>A	c.(421-423)ccG>ccA	p.P141P	MRPS18A_ENST00000372116.1_Intron	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	141					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.P141P(1)		kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			GTTTGCTCTTCGGAACAACTC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19248	0.001		0.0	False		,,,				2504	0.0				p.P141P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	6						.						139.0	132.0	134.0					6																	43642962		2203	4300	6503	43750940	SO:0001819	synonymous_variant	55168	exon5			AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"""Mitochondrial ribosomal proteins / small subunits"""	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.423G>A	6.37:g.43642962C>T			43750940	NM_018135	A6XND3|Q5QPA4	Silent	SNP	ENST00000372133.3	37	CCDS4906.1																																																																																				0.552	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135	
TMEM63B	55362	broad.mit.edu	37	6	44108077	44108077	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:44108077C>T	ENST00000259746.9	+	9	874	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R231C|TMEM63B_ENST00000527188.1_3'UTR			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	231					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R231C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCCAAGATGCGCTACAAGGA	0.587																																					p.R231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	6						.						115.0	83.0	94.0					6																	44108077		2202	4300	6502	44216055	SO:0001583	missense	55362	exon9			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.691C>T	6.37:g.44108077C>T	ENSP00000259746:p.Arg231Cys		44216055	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644971	0.87859	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.37915	1.17;1.17	4.45	4.45	0.53987	.	0.053599	0.85682	D	0.000000	T	0.39708	0.1088	L	0.50333	1.59	0.80722	D	1	P;D;D	0.76494	0.917;0.998;0.999	P;P;P	0.56700	0.707;0.696;0.804	T	0.37079	-0.9721	10	0.72032	D	0.01	.	16.264	0.82565	0.0:1.0:0.0:0.0	.	231;231;231	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	C	231	ENSP00000259746:R231C;ENSP00000327154:R231C	ENSP00000259746:R231C	R	+	1	0	TMEM63B	44216055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.650000	0.61440	2.317000	0.78254	0.561000	0.74099	CGC		0.587	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
CAPN11	11131	broad.mit.edu	37	6	44140733	44140733	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:44140733G>T	ENST00000398776.1	+	6	623	c.585G>T	c.(583-585)aaG>aaT	p.K195N	CAPN11_ENST00000542245.1_Missense_Mutation_p.K195N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	195	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.K195N(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCCCACAAAGAATGACAAGC	0.547											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G585T	6						.						47.0	51.0	50.0					6																	44140733		2167	4272	6439	44248711	SO:0001583	missense	11131	exon6			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.585G>T	6.37:g.44140733G>T	ENSP00000381758:p.Lys195Asn	921	44248711	NM_007058	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745566	0.49151	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.89123	-2.47;-2.47	4.16	1.37	0.22104	Peptidase C2, calpain, catalytic domain (3);	0.149441	0.31542	N	0.007480	D	0.88265	0.6390	M	0.75615	2.305	0.23959	N	0.996347	D	0.67145	0.996	D	0.66351	0.943	T	0.79940	-0.1591	10	0.45353	T	0.12	.	7.5342	0.27700	0.3642:0.0:0.6358:0.0	.	195	Q9UMQ6	CAN11_HUMAN	N	195	ENSP00000381758:K195N;ENSP00000441078:K195N	ENSP00000381758:K195N	K	+	3	2	CAPN11	44248711	1.000000	0.71417	0.035000	0.18076	0.694000	0.40290	2.356000	0.44116	0.516000	0.28340	0.609000	0.83330	AAG		0.547	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
HSP90AB1	3326	broad.mit.edu	37	6	44218276	44218276	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:44218276G>T	ENST00000371554.1	+	6	1111	c.897G>T	c.(895-897)gaG>gaT	p.E299D	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E299D|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E299D			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	299					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.E299D(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCACCCAAGAGGAGTATGGAG	0.423																																					p.E299D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G897T	6						.						91.0	85.0	87.0					6																	44218276		2203	4300	6503	44326254	SO:0001583	missense	3326	exon6			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.897G>T	6.37:g.44218276G>T	ENSP00000360609:p.Glu299Asp		44326254	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283226	0.40394	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11604	2.76;2.76;2.76	4.41	2.19	0.27852	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	U	0.000002	T	0.04998	0.0134	L	0.58428	1.81	0.80722	D	1	B;B;B	0.13145	0.001;0.007;0.006	B;B;B	0.21546	0.01;0.035;0.018	T	0.08351	-1.0726	10	0.48119	T	0.1	-17.9711	8.4362	0.32789	0.3542:0.0:0.6458:0.0	.	261;289;299	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	D	299	ENSP00000360709:E299D;ENSP00000325875:E299D;ENSP00000360609:E299D	ENSP00000325875:E299D	E	+	3	2	HSP90AB1	44326254	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.190000	0.32126	0.859000	0.35456	0.460000	0.39030	GAG		0.423	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
HSP90AB1	3326	broad.mit.edu	37	6	44221324	44221324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:44221324G>T	ENST00000371554.1	+	12	2378	c.2164G>T	c.(2164-2166)Gaa>Taa	p.E722*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.E722*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.E722*|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	722					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)	p.E722*(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCGCATGGAAGAAGTCGATTA	0.542											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E722X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2164T	6						.						70.0	73.0	72.0					6																	44221324		2203	4300	6503	44329302	SO:0001587	stop_gained	3326	exon12			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2164G>T	6.37:g.44221324G>T	ENSP00000360609:p.Glu722*	922	44329302	NM_007355	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Nonsense_Mutation	SNP	ENST00000371554.1	37	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	40	8.017993	0.98613	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	3.91	3.91	0.45181	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.49582	D	0.999803	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.342	16.4352	0.83873	0.0:0.0:1.0:0.0	.	.	.	.	X	722	.	ENSP00000325875:E722X	E	+	1	0	HSP90AB1	44329302	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.605000	0.98321	2.188000	0.69820	0.609000	0.83330	GAA		0.542	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
RUNX2	860	broad.mit.edu	37	6	45515041	45515041	+	Nonstop_Mutation	SNP	G	G	T	rs104893994		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:45515041G>T	ENST00000371438.1	+	8	1923	c.1565G>T	c.(1564-1566)tGa>tTa	p.*522L	RUNX2_ENST00000371432.3_Nonstop_Mutation_p.*486L|RUNX2_ENST00000541979.1_Nonstop_Mutation_p.*568L|RUNX2_ENST00000371436.6_Nonstop_Mutation_p.*500L|RUNX2_ENST00000465038.2_Nonstop_Mutation_p.*522L|RUNX2_ENST00000359524.5_Nonstop_Mutation_p.*508L|RUNX2_ENST00000352853.5_Nonstop_Mutation_p.*590L|RUNX2_ENST00000576263.1_Intron	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	0					BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.*522L(1)|p.*590L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGACCATATTGAAATTCCTCA	0.433																																					p.X508L												.	.	2	Nonstop extension(2)	large_intestine(2)	c.G1523T	6	GRCh37	CM021322	RUNX2	M	rs104893994	.						77.0	82.0	81.0					6																	45515041		2202	4300	6502	45623019	SO:0001578	stop_lost	860	exon7			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1565G>T	6.37:g.45515041G>T	ENSP00000360493:p.*522Leuext*23		45623019	NM_004348	O14614|O14615|O95181	Nonstop_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211401	0.79240	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	L	522;590;568;522;500;508;486	.	.	X	+	2	2	RUNX2	45623019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.586000	0.82596	2.776000	0.95493	0.655000	0.94253	TGA		0.433	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
CLIC5	53405	broad.mit.edu	37	6	45922972	45922972	+	Missense_Mutation	SNP	C	C	T	rs145250435	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:45922972C>T	ENST00000185206.6	-	2	702	c.550G>A	c.(550-552)Gat>Aat	p.D184N	CLIC5_ENST00000544153.1_Missense_Mutation_p.D25N|CLIC5_ENST00000339561.6_Missense_Mutation_p.D25N	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	184					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)	p.D25N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTTCTCCATCGATTCCAGCC	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		20573	0.002		0.0	False		,,,				2504	0.0				p.D25N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73A	6						.						96.0	79.0	85.0					6																	45922972		2203	4300	6503	46030950	SO:0001583	missense	53405	exon2			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.550G>A	6.37:g.45922972C>T	ENSP00000185206:p.Asp184Asn		46030950	NM_016929	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	CCDS47438.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	34	5.389985	0.95988	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	T;T;T	0.42131	0.98;0.98;0.98	5.36	5.36	0.76844	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	N	0.19112	0.55	0.80722	D	1	D;D;D	0.67145	0.996;0.976;0.996	P;P;P	0.58970	0.849;0.53;0.803	T	0.39881	-0.9592	10	0.72032	D	0.01	.	18.2208	0.89901	0.0:1.0:0.0:0.0	.	25;184;25	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	N	184;25;25	ENSP00000185206:D184N;ENSP00000344165:D25N;ENSP00000439195:D25N	ENSP00000185206:D184N	D	-	1	0	CLIC5	46030950	1.000000	0.71417	0.916000	0.36221	0.978000	0.69477	7.448000	0.80631	2.676000	0.91093	0.650000	0.86243	GAT		0.493	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1		
ENPP5	59084	broad.mit.edu	37	6	46135742	46135742	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46135742C>A	ENST00000371383.2	-	3	518	c.258G>T	c.(256-258)gaG>gaT	p.E86D	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.E86D					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)									p.E86D(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCCCATGATTCTCTGCAAAGA	0.338																																					p.E86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	6						.						63.0	60.0	61.0					6																	46135742		2203	4300	6503	46243701	SO:0001583	missense	59084	exon2			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.258G>T	6.37:g.46135742C>A	ENSP00000360436:p.Glu86Asp		46243701	NM_021572		Missense_Mutation	SNP	ENST00000371383.2	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278440	0.59758	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73789	-0.78;-0.78	5.51	3.75	0.43078	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.67397	2.05	0.37443	D	0.914503	D;D	0.71674	0.998;0.998	D;D	0.70016	0.967;0.967	T	0.79337	-0.1845	10	0.87932	D	0	-21.9521	8.7386	0.34543	0.0:0.6526:0.0:0.3474	.	86;86	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	D	86	ENSP00000360436:E86D;ENSP00000230565:E86D	ENSP00000230565:E86D	E	-	3	2	ENPP5	46243701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.910000	0.28571	0.815000	0.34398	-0.229000	0.12294	GAG		0.338	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2		
CYP39A1	51302	broad.mit.edu	37	6	46518128	46518128	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46518128C>T	ENST00000275016.2	-	12	1588	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	462					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.R462Q(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						ATATTCAATTCGGCATTGCCC	0.468																																					p.R462Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1385A	6						.						133.0	138.0	136.0					6																	46518128		2203	4300	6503	46626087	SO:0001583	missense	51302	exon12			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1385G>A	6.37:g.46518128C>T	ENSP00000275016:p.Arg462Gln		46626087	NM_016593	Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667797	0.47677	.	.	ENSG00000146233	ENST00000275016	D	0.85171	-1.95	5.82	3.11	0.35812	.	0.328524	0.24909	N	0.034625	T	0.58163	0.2103	L	0.47716	1.5	0.20975	N	0.999813	P;P	0.44659	0.722;0.84	B;B	0.36666	0.138;0.23	T	0.53457	-0.8436	10	0.13470	T	0.59	-1.274	8.0835	0.30758	0.0:0.7505:0.0:0.2495	.	442;462	B7Z786;Q9NYL5	.;CP39A_HUMAN	Q	462	ENSP00000275016:R462Q	ENSP00000275016:R462Q	R	-	2	0	CYP39A1	46626087	0.428000	0.25522	0.433000	0.26760	0.991000	0.79684	0.603000	0.24149	0.395000	0.25257	0.655000	0.94253	CGA		0.468	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1		
PLA2G7	7941	broad.mit.edu	37	6	46672344	46672344	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46672344G>T	ENST00000274793.7	-	12	1475	c.1279C>A	c.(1279-1281)Caa>Aaa	p.Q427K	PLA2G7_ENST00000537365.1_Missense_Mutation_p.Q427K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	427					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.Q427K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGATGTGTTGATTGGTTGTG	0.313																																					p.Q427K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1279A	6						.						118.0	107.0	111.0					6																	46672344		2202	4300	6502	46780303	SO:0001583	missense	7941	exon12			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1279C>A	6.37:g.46672344G>T	ENSP00000274793:p.Gln427Lys		46780303	NM_001168357	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417344	0.11870	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.40756	1.02;1.02	4.27	1.17	0.20885	.	1.093960	0.06891	N	0.804198	T	0.08537	0.0212	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.05351	T	0.99	.	0.9838	0.01442	0.1571:0.1913:0.364:0.2876	.	427	Q13093	PAFA_HUMAN	K	427	ENSP00000274793:Q427K;ENSP00000445666:Q427K	ENSP00000274793:Q427K	Q	-	1	0	PLA2G7	46780303	0.006000	0.16342	0.002000	0.10522	0.003000	0.03518	0.632000	0.24583	0.419000	0.25927	0.561000	0.74099	CAA		0.313	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
GPR116	221395	broad.mit.edu	37	6	46823752	46823752	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46823752G>T	ENST00000283296.7	-	20	4208	c.3920C>A	c.(3919-3921)tCt>tAt	p.S1307Y	GPR116_ENST00000456426.2_Missense_Mutation_p.S1165Y|GPR116_ENST00000362015.4_Missense_Mutation_p.S1287Y|GPR116_ENST00000265417.7_Missense_Mutation_p.S1307Y|GPR116_ENST00000545669.1_Missense_Mutation_p.S736Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1307					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1307Y(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGATATTGGAGAACTCATAGA	0.418																																					p.S1307Y	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3920A	6						.						56.0	50.0	52.0					6																	46823752		2203	4296	6499	46931711	SO:0001583	missense	221395	exon20			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3920C>A	6.37:g.46823752G>T	ENSP00000283296:p.Ser1307Tyr		46931711	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060150	0.36373	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.42	5.42	0.78866	.	0.101172	0.44902	D	0.000420	T	0.16214	0.0390	N	0.08118	0	0.32277	N	0.568073	B;B;P;B;P	0.34864	0.241;0.091;0.473;0.335;0.473	B;B;B;B;B	0.30943	0.082;0.039;0.069;0.122;0.069	T	0.08576	-1.0715	10	0.27785	T	0.31	-15.8516	13.4976	0.61434	0.0:0.0:0.8441:0.1559	.	736;862;1287;1165;1307	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	Y	1307;1307;1287;1165;678;1307;736	ENSP00000283296:S1307Y;ENSP00000354563:S1287Y;ENSP00000412866:S1165Y;ENSP00000265417:S1307Y;ENSP00000441581:S736Y	ENSP00000265417:S1307Y	S	-	2	0	GPR116	46931711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.156000	0.58138	2.702000	0.92279	0.650000	0.86243	TCT		0.418	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR116	221395	broad.mit.edu	37	6	46828469	46828469	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46828469T>G	ENST00000283296.7	-	16	2650	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	GPR116_ENST00000456426.2_Missense_Mutation_p.N646H|GPR116_ENST00000362015.4_Missense_Mutation_p.N788H|GPR116_ENST00000265417.7_Missense_Mutation_p.N788H|GPR116_ENST00000545669.1_Missense_Mutation_p.N217H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	788					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N788H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTTCTGAATTTACTTGGGTT	0.423																																					p.N788H	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2362C	6						.						133.0	130.0	131.0					6																	46828469		2203	4300	6503	46936428	SO:0001583	missense	221395	exon16			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2362A>C	6.37:g.46828469T>G	ENSP00000283296:p.Asn788His		46936428	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.897675	0.52121	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.30714	1.57;1.96;1.59;1.57;1.52	5.68	5.68	0.88126	.	0.188825	0.36778	N	0.002401	T	0.35799	0.0944	L	0.60455	1.87	0.27796	N	0.942644	D;D;D;D;D	0.63880	0.98;0.966;0.981;0.993;0.981	P;P;P;P;P	0.62649	0.804;0.702;0.635;0.905;0.635	T	0.29488	-1.0010	10	0.66056	D	0.02	-18.0487	12.3287	0.55026	0.0:0.0:0.0:1.0	.	217;343;788;646;788	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	H	788;788;788;646;159;788;217	ENSP00000283296:N788H;ENSP00000354563:N788H;ENSP00000412866:N646H;ENSP00000265417:N788H;ENSP00000441581:N217H	ENSP00000265417:N788H	N	-	1	0	GPR116	46936428	0.993000	0.37304	0.993000	0.49108	0.511000	0.34104	1.289000	0.33307	2.172000	0.68678	0.533000	0.62120	AAT		0.423	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR116	221395	broad.mit.edu	37	6	46856116	46856116	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:46856116T>G	ENST00000283296.7	-	4	572	c.284A>C	c.(283-285)aAc>aCc	p.N95T	GPR116_ENST00000456426.2_Missense_Mutation_p.N95T|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000362015.4_Missense_Mutation_p.N95T|GPR116_ENST00000265417.7_Missense_Mutation_p.N95T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	95					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N95T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCAGTGTTATTCCCATG	0.383																																					p.N95T	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A284C	6						.						141.0	134.0	137.0					6																	46856116		2203	4300	6503	46964075	SO:0001583	missense	221395	exon4			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.284A>C	6.37:g.46856116T>G	ENSP00000283296:p.Asn95Thr		46964075	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	1.093	-0.663496	0.03428	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.25414	1.83;2.21;1.8;1.83	5.66	-5.18	0.02840	.	1.597120	0.03495	N	0.217172	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.30208	-0.9986	10	0.23891	T	0.37	-0.3031	9.2403	0.37493	0.0:0.5926:0.1292:0.2782	.	95;95;95	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	T	95	ENSP00000283296:N95T;ENSP00000354563:N95T;ENSP00000412866:N95T;ENSP00000265417:N95T	ENSP00000265417:N95T	N	-	2	0	GPR116	46964075	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.023000	0.03607	-0.466000	0.06943	-0.290000	0.09829	AAC		0.383	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:47200581C>T	ENST00000296861.2	-	6	2281	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493																																					p.E630K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1888A	6						.						109.0	120.0	116.0					6																	47200581		2203	4300	6503	47308540	SO:0001583	missense	27242	exon6			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1888G>A	6.37:g.47200581C>T	ENSP00000296861:p.Glu630Lys		47308540	NM_014452	B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125369	0.94429	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.045975	0.85682	D	0.000000	T	0.70254	0.3203	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.74200	-0.3742	10	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	630	O75509	TNR21_HUMAN	K	630;319	ENSP00000296861:E630K	ENSP00000296861:E630K	E	-	1	0	TNFRSF21	47308540	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAA		0.493	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452	
GPR115	221393	broad.mit.edu	37	6	47681856	47681856	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:47681856G>T	ENST00000283303.2	+	6	1133	c.875G>T	c.(874-876)aGc>aTc	p.S292I	GPR115_ENST00000327753.3_Missense_Mutation_p.S292I|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.S349I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	292					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S292I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CAAGCCATTAGCATAGCTTTC	0.468																																					p.S292I	GBM(22;431 510 9010 26644 32828)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G875T	6						.						55.0	58.0	57.0					6																	47681856		2203	4300	6503	47789815	SO:0001583	missense	221393	exon6			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.875G>T	6.37:g.47681856G>T	ENSP00000283303:p.Ser292Ile		47789815	NM_153838	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877515	0.17395	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37752	1.42;1.18;1.18	5.19	1.12	0.20585	.	0.697449	0.14950	N	0.288947	T	0.26159	0.0638	M	0.77486	2.375	0.09310	N	1	P	0.45283	0.855	B	0.43413	0.419	T	0.11792	-1.0573	10	0.72032	D	0.01	-0.9993	12.0708	0.53616	0.0:0.5071:0.3625:0.1304	.	292	Q8IZF3	GP115_HUMAN	I	349;292;292	ENSP00000360264:S349I;ENSP00000328319:S292I;ENSP00000283303:S292I	ENSP00000283303:S292I	S	+	2	0	GPR115	47789815	0.311000	0.24536	0.128000	0.21923	0.655000	0.38815	1.829000	0.39121	-0.020000	0.14032	0.655000	0.94253	AGC		0.468	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
MUT	4594	broad.mit.edu	37	6	49419385	49419385	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:49419385C>A	ENST00000274813.3	-	6	1253	c.1126G>T	c.(1126-1128)Gca>Tca	p.A376S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	376					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.A376S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATACTGCTGCCATTGCTTCT	0.373																																					p.A376S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126T	6						.						79.0	71.0	73.0					6																	49419385		2203	4300	6503	49527344	SO:0001583	missense	4594	exon6				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1126G>T	6.37:g.49419385C>A	ENSP00000274813:p.Ala376Ser		49527344	NM_000255	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449372	0.84101	.	.	ENSG00000146085	ENST00000274813	D	0.98835	-5.17	5.05	5.05	0.67936	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	M	0.61703	1.905	0.80722	D	1	B	0.32338	0.365	P	0.50934	0.654	D	0.99795	1.1033	10	0.44086	T	0.13	-16.6432	17.3928	0.87437	0.0:1.0:0.0:0.0	.	376	P22033	MUTA_HUMAN	S	376	ENSP00000274813:A376S	ENSP00000274813:A376S	A	-	1	0	MUT	49527344	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.347000	0.79759	0.467000	0.42956	GCA		0.373	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
CRISP1	167	broad.mit.edu	37	6	49808636	49808636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:49808636G>T	ENST00000335847.4	-	6	609	c.508C>A	c.(508-510)Ctc>Atc	p.L170I	CRISP1_ENST00000329411.5_Missense_Mutation_p.L170I|CRISP1_ENST00000355791.2_Missense_Mutation_p.L170I|CRISP1_ENST00000505118.1_Missense_Mutation_p.L170I|CRISP1_ENST00000536021.1_Missense_Mutation_p.L170I|CRISP1_ENST00000507853.1_Missense_Mutation_p.L170I	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	170	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.L170I(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CAAACGTAGAGATATCGAGGT	0.348																																					p.L170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508A	6						.						100.0	90.0	93.0					6																	49808636		2203	4300	6503	49916595	SO:0001583	missense	167	exon6			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.508C>A	6.37:g.49808636G>T	ENSP00000338276:p.Leu170Ile		49916595	NM_001131	B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896164	0.33442	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	4.8	-4.55	0.03441	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	1.107840	0.06749	N	0.779711	T	0.02418	0.0074	L	0.43646	1.37	0.09310	N	1	B;P	0.40660	0.011;0.726	B;B	0.42138	0.01;0.377	T	0.26360	-1.0105	9	.	.	.	.	5.6769	0.17753	0.4068:0.0:0.3859:0.2073	.	170;170	P54107-2;P54107	.;CRIS1_HUMAN	I	170	ENSP00000425020:L170I;ENSP00000338276:L170I;ENSP00000348044:L170I;ENSP00000331317:L170I;ENSP00000427589:L170I;ENSP00000441798:L170I	.	L	-	1	0	CRISP1	49916595	0.048000	0.20356	0.001000	0.08648	0.001000	0.01503	0.027000	0.13621	-1.352000	0.02194	-3.020000	0.00074	CTC		0.348	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131	
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:49928133G>A	ENST00000322066.3	-	2	81	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	28					defense response to bacterium (GO:0042742)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)	p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353																																					p.R28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	6						.						99.0	89.0	93.0					6																	49928133		2203	4299	6502	50036092	SO:0001583	missense	245928	exon2			DQ012018	CCDS34474.1	6p12.3	2010-03-30			ENSG00000177684	ENSG00000177684		"""Defensins, beta"""	18095	protein-coding gene	gene with protein product		615243				11854508, 16033865	Standard	NM_001037499		Approved	DEFB-14	uc011dwp.2	Q30KQ6	OTTHUMG00000160209	ENST00000322066.3:c.82C>T	6.37:g.49928133G>A	ENSP00000312702:p.Arg28Cys		50036092	NM_001037499	Q8NES9	Missense_Mutation	SNP	ENST00000322066.3	37	CCDS34474.1	.	.	.	.	.	.	.	.	.	.	G	7.567	0.665989	0.14710	.	.	ENSG00000177684	ENST00000322066	T	0.14516	2.5	3.55	1.57	0.23409	.	0.497156	0.15401	N	0.264318	T	0.14570	0.0352	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.64595	0.927	T	0.04360	-1.0957	8	.	.	.	-6.758	8.1693	0.31245	0.0:0.0:0.5073:0.4927	.	28	Q30KQ6	DB114_HUMAN	C	28	ENSP00000312702:R28C	.	R	-	1	0	DEFB114	50036092	0.004000	0.15560	0.001000	0.08648	0.481000	0.33189	1.070000	0.30653	0.383000	0.24910	0.650000	0.86243	CGT		0.353	DEFB114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359665.1	NM_001037499	
TFAP2D	83741	broad.mit.edu	37	6	50718949	50718949	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:50718949C>A	ENST00000008391.3	+	7	1279	c.1051C>A	c.(1051-1053)Ctc>Atc	p.L351I	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.L351I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATTCCAAGACCTCTTGAGCCA	0.343																																					p.L351I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1051A	6						.						89.0	83.0	85.0					6																	50718949		2203	4299	6502	50826908	SO:0001583	missense	83741	exon7			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1051C>A	6.37:g.50718949C>A	ENSP00000008391:p.Leu351Ile		50826908	NM_172238		Missense_Mutation	SNP	ENST00000008391.3	37	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068889	0.76301	.	.	ENSG00000008197	ENST00000008391	D	0.96992	-4.2	5.48	4.61	0.57282	Transcription factor AP-2, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94282	0.8163	L	0.50993	1.605	0.58432	D	0.999999	P	0.41498	0.752	P	0.46917	0.531	D	0.94334	0.7564	10	0.51188	T	0.08	-12.8213	13.6818	0.62489	0.0:0.9258:0.0:0.0742	.	351	Q7Z6R9	AP2D_HUMAN	I	351	ENSP00000008391:L351I	ENSP00000008391:L351I	L	+	1	0	TFAP2D	50826908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.774000	0.55341	2.574000	0.86865	0.484000	0.47621	CTC		0.343	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
TFAP2B	7021	broad.mit.edu	37	6	50791466	50791466	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:50791466C>T	ENST00000393655.3	+	2	597	c.428C>T	c.(427-429)tCg>tTg	p.S143L	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S152L|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	143					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S143L(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTACCACTCGGTCCGCCGG	0.716																																					p.S143L	Pancreas(116;1373 2332 5475 10752)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C428T	6						.						10.0	12.0	11.0					6																	50791466		2184	4284	6468	50899425	SO:0001583	missense	7021	exon2			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.428C>T	6.37:g.50791466C>T	ENSP00000377265:p.Ser143Leu		50899425	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486240	0.63962	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;T;D	0.97378	-4.36;-1.12;-4.35	5.43	4.57	0.56435	.	0.272626	0.36591	N	0.002515	D	0.89065	0.6609	N	0.14661	0.345	0.52501	D	0.999955	B	0.24368	0.102	B	0.12837	0.008	D	0.87059	0.2152	10	0.72032	D	0.01	-1.5245	13.9744	0.64262	0.0:0.927:0.0:0.073	.	143	Q92481	AP2B_HUMAN	L	143;141;152	ENSP00000377265:S143L;ENSP00000342252:S141L;ENSP00000263046:S152L	ENSP00000263046:S152L	S	+	2	0	TFAP2B	50899425	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	4.027000	0.57239	1.303000	0.44873	0.563000	0.77884	TCG		0.716	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
TFAP2B	7021	broad.mit.edu	37	6	50796339	50796339	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:50796339A>T	ENST00000393655.3	+	3	717	c.548A>T	c.(547-549)gAa>gTa	p.E183V	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E192V	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	183					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E183V(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CAGTCAGTTGAAGATGCCAAT	0.338																																					p.E183V	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A548T	6						.						112.0	110.0	111.0					6																	50796339		2203	4300	6503	50904298	SO:0001583	missense	7021	exon3			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.548A>T	6.37:g.50796339A>T	ENSP00000377265:p.Glu183Val		50904298	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418426	0.42918	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	D;D;D	0.83250	-1.7;-1.7;-1.7	5.9	5.9	0.94986	.	0.076902	0.56097	D	0.000033	T	0.77624	0.4158	M	0.67397	2.05	0.80722	D	1	P	0.48911	0.917	B	0.44315	0.446	T	0.77024	-0.2741	10	0.25106	T	0.35	-15.5372	16.3317	0.83023	1.0:0.0:0.0:0.0	.	183	Q92481	AP2B_HUMAN	V	183;181;192	ENSP00000377265:E183V;ENSP00000342252:E181V;ENSP00000263046:E192V	ENSP00000263046:E192V	E	+	2	0	TFAP2B	50904298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.815000	0.91973	2.264000	0.75181	0.533000	0.62120	GAA		0.338	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
TFAP2B	7021	broad.mit.edu	37	6	50803903	50803903	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:50803903C>T	ENST00000393655.3	+	4	900	c.731C>T	c.(730-732)tCg>tTg	p.S244L	TFAP2B_ENST00000263046.4_Missense_Mutation_p.S253L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	244					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S244L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGTTCAACTTCGAAGTACAAA	0.537																																					p.S244L	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C731T	6						.						70.0	68.0	69.0					6																	50803903		2203	4300	6503	50911862	SO:0001583	missense	7021	exon4			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.731C>T	6.37:g.50803903C>T	ENSP00000377265:p.Ser244Leu		50911862	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989448	0.74589	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97811	-4.55;-4.55	5.44	5.44	0.79542	Transcription factor AP-2, C-terminal (1);	0.119560	0.64402	D	0.000018	D	0.98979	0.9652	M	0.90252	3.1	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99764	1.1022	10	0.87932	D	0	-5.3343	19.2724	0.94016	0.0:1.0:0.0:0.0	.	244	Q92481	AP2B_HUMAN	L	244;253	ENSP00000377265:S244L;ENSP00000263046:S253L	ENSP00000263046:S253L	S	+	2	0	TFAP2B	50911862	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.818000	0.86416	2.561000	0.86390	0.650000	0.86243	TCG		0.537	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
PKHD1	5314	broad.mit.edu	37	6	51484119	51484119	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51484119C>A	ENST00000371117.3	-	67	12260	c.11985G>T	c.(11983-11985)gaG>gaT	p.E3995D	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3995					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E3995D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGTTCCCAGTCTCTTGCAGGT	0.572																																					p.E3995D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11985T	6						.						74.0	69.0	71.0					6																	51484119		2203	4300	6503	51592078	SO:0001583	missense	5314	exon67			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11985G>T	6.37:g.51484119C>A	ENSP00000360158:p.Glu3995Asp		51592078	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186908	0.57909	.	.	ENSG00000170927	ENST00000371117	D	0.91237	-2.81	4.83	2.02	0.26589	.	0.000000	0.47852	D	0.000205	D	0.90442	0.7007	M	0.66939	2.045	0.32910	D	0.514356	D	0.63880	0.993	D	0.70016	0.967	D	0.88064	0.2796	10	0.87932	D	0	.	7.3426	0.26646	0.0:0.6988:0.0:0.3012	.	3995	P08F94	PKHD1_HUMAN	D	3995	ENSP00000360158:E3995D	ENSP00000360158:E3995D	E	-	3	2	PKHD1	51592078	0.211000	0.23529	0.497000	0.27552	0.859000	0.49053	0.391000	0.20784	0.578000	0.29487	0.655000	0.94253	GAG		0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51523790	51523790	+	Missense_Mutation	SNP	C	C	T	rs200358765		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51523790C>T	ENST00000371117.3	-	61	11409	c.11134G>A	c.(11134-11136)Gcc>Acc	p.A3712T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3712					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A3712T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTAGTAAGGCCCCGATAGTC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18485	0.001		0.0	False		,,,				2504	0.0				p.A3712T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11134A	6						.						129.0	128.0	128.0					6																	51523790		2203	4300	6503	51631749	SO:0001583	missense	5314	exon61			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11134G>A	6.37:g.51523790C>T	ENSP00000360158:p.Ala3712Thr		51631749	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.835	1.189543	0.21954	.	.	ENSG00000170927	ENST00000371117	D	0.86497	-2.13	5.8	4.84	0.62591	.	0.338429	0.28865	N	0.013891	T	0.70116	0.3187	L	0.49350	1.555	0.47778	D	0.99951	B	0.10296	0.003	B	0.12156	0.007	T	0.67309	-0.5703	10	0.30078	T	0.28	.	5.2549	0.15542	0.1594:0.6552:0.0:0.1854	.	3712	P08F94	PKHD1_HUMAN	T	3712	ENSP00000360158:A3712T	ENSP00000360158:A3712T	A	-	1	0	PKHD1	51631749	0.643000	0.27269	0.966000	0.40874	0.595000	0.36748	1.058000	0.30504	1.283000	0.44513	0.655000	0.94253	GCC		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	rs148617572		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3482C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAAAAAGCGCAAAACTTGA	0.443																																					p.R3482C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10444T	6	GRCh37	CM032336	PKHD1	M	rs148617572	.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	78.0		10444	3.9	0.5	6	dbSNP_134	78	0,8600		0,0,4300	no	missense	PKHD1	NM_138694.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3482/4075	51524480	1,13005	2203	4300	6503	51632439	SO:0001583	missense	5314	exon61			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10444C>T	6.37:g.51524480G>A	ENSP00000360158:p.Arg3482Cys		51632439	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201621	0.58234	2.27E-4	0.0	ENSG00000170927	ENST00000371117	D	0.94184	-3.37	5.72	3.89	0.44902	.	0.341409	0.25765	N	0.028456	D	0.90045	0.6891	L	0.34521	1.04	0.29128	N	0.879818	D	0.89917	1.0	P	0.57846	0.828	D	0.86300	0.1679	10	0.66056	D	0.02	.	13.3409	0.60545	0.0:0.0:0.4578:0.5422	.	3482	P08F94	PKHD1_HUMAN	C	3482	ENSP00000360158:R3482C	ENSP00000360158:R3482C	R	-	1	0	PKHD1	51632439	0.999000	0.42202	0.472000	0.27241	0.911000	0.54048	2.559000	0.45888	0.717000	0.32145	0.655000	0.94253	CGC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51640637	51640637	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51640637C>A	ENST00000371117.3	-	54	8798	c.8523G>T	c.(8521-8523)atG>atT	p.M2841I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M2841I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2841	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.M2841I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATTCCATTCATACGGTCAC	0.338																																					p.M2841I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8523T	6						.						75.0	75.0	75.0					6																	51640637		2203	4299	6502	51748596	SO:0001583	missense	5314	exon54			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8523G>T	6.37:g.51640637C>A	ENSP00000360158:p.Met2841Ile		51748596	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050007	0.19827	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.98;-2.19	5.63	-4.58	0.03410	G8 domain (2);	0.741661	0.13003	N	0.421530	T	0.45756	0.1358	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45556	-0.9253	10	0.33940	T	0.23	.	3.5785	0.07943	0.3191:0.423:0.1666:0.0913	.	2841;2841;2841	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	2841	ENSP00000360158:M2841I;ENSP00000341097:M2841I	ENSP00000341097:M2841I	M	-	3	0	PKHD1	51748596	0.002000	0.14202	0.000000	0.03702	0.508000	0.34012	-0.199000	0.09491	-0.805000	0.04404	0.313000	0.20887	ATG		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51640698	51640698	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51640698T>C	ENST00000371117.3	-	54	8737	c.8462A>G	c.(8461-8463)gAa>gGa	p.E2821G	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2821G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2821	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E2821G(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGTTCCTTTTCTAAGGGATT	0.338																																					p.E2821G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8462G	6						.						67.0	67.0	67.0					6																	51640698		2203	4299	6502	51748657	SO:0001583	missense	5314	exon54			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8462A>G	6.37:g.51640698T>C	ENSP00000360158:p.Glu2821Gly		51748657	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055442	0.36277	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89617	-2.54;-2.54	5.63	3.16	0.36331	G8 domain (2);	0.648906	0.15549	N	0.256504	T	0.76919	0.4055	M	0.65975	2.015	0.09310	N	1	B;B;B	0.22003	0.063;0.013;0.003	B;B;B	0.23018	0.043;0.017;0.007	T	0.66968	-0.5789	10	0.35671	T	0.21	.	8.55	0.33447	0.0:0.1543:0.0:0.8457	.	2821;2821;2821	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	G	2821	ENSP00000360158:E2821G;ENSP00000341097:E2821G	ENSP00000341097:E2821G	E	-	2	0	PKHD1	51748657	0.961000	0.32948	0.560000	0.28344	0.935000	0.57460	1.349000	0.33998	0.386000	0.24997	0.260000	0.18958	GAA		0.338	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51712645	51712645	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51712645G>T	ENST00000371117.3	-	50	8310	c.8035C>A	c.(8035-8037)Ctt>Att	p.L2679I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2679I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2679					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L2679I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTGATGGAAGAAATGGAAAA	0.483																																					p.L2679I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8035A	6						.						149.0	135.0	140.0					6																	51712645		2203	4300	6503	51820604	SO:0001583	missense	5314	exon50			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8035C>A	6.37:g.51712645G>T	ENSP00000360158:p.Leu2679Ile		51820604	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	7.843	0.722255	0.15372	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.05;-2.24	5.47	4.58	0.56647	.	0.567197	0.16951	N	0.192881	T	0.71567	0.3355	L	0.40543	1.245	0.09310	N	1	P;P;P	0.39424	0.666;0.673;0.483	B;B;B	0.39706	0.162;0.307;0.122	T	0.61959	-0.6955	10	0.18710	T	0.47	.	11.3979	0.49854	0.0738:0.1292:0.797:0.0	.	2679;2679;2679	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	2679	ENSP00000360158:L2679I;ENSP00000341097:L2679I	ENSP00000341097:L2679I	L	-	1	0	PKHD1	51820604	0.397000	0.25270	0.361000	0.25849	0.121000	0.20230	2.197000	0.42696	2.720000	0.93068	0.650000	0.86243	CTT		0.483	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51732787	51732787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51732787C>A	ENST00000371117.3	-	48	7882	c.7607G>T	c.(7606-7608)aGa>aTa	p.R2536I	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2536I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2536					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R2536I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGTGACTTCTGTTTTTCCC	0.443																																					p.R2536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7607T	6						.						88.0	82.0	84.0					6																	51732787		2203	4299	6502	51840746	SO:0001583	missense	5314	exon48			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7607G>T	6.37:g.51732787C>A	ENSP00000360158:p.Arg2536Ile		51840746	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663418	0.29515	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87103	-2.0;-2.21	5.67	3.87	0.44632	.	0.636295	0.16798	N	0.199106	T	0.70789	0.3264	L	0.44542	1.39	0.30788	N	0.741281	P;P;P	0.46277	0.761;0.875;0.855	B;B;B	0.40534	0.135;0.332;0.187	T	0.67055	-0.5767	10	0.87932	D	0	.	6.8874	0.24209	0.0:0.7044:0.1451:0.1505	.	2536;2536;2536	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	2536	ENSP00000360158:R2536I;ENSP00000341097:R2536I	ENSP00000341097:R2536I	R	-	2	0	PKHD1	51840746	0.611000	0.26992	0.208000	0.23602	0.685000	0.39939	0.980000	0.29513	0.742000	0.32697	-0.282000	0.10007	AGA		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51735425	51735425	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51735425T>C	ENST00000371117.3	-	47	7638	c.7363A>G	c.(7363-7365)Atg>Gtg	p.M2455V	PKHD1_ENST00000340994.4_Missense_Mutation_p.M2455V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2455					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.M2455V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGATGACATACACAGACTT	0.333																																					p.M2455V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7363G	6						.						106.0	103.0	104.0					6																	51735425		2203	4300	6503	51843384	SO:0001583	missense	5314	exon47			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7363A>G	6.37:g.51735425T>C	ENSP00000360158:p.Met2455Val		51843384	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447023	0.63178	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-2.01;-2.2	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	M	0.72479	2.2	0.36083	D	0.842948	D;D;D	0.67145	0.983;0.984;0.996	P;P;D	0.70227	0.829;0.879;0.968	D	0.92277	0.5830	10	0.54805	T	0.06	.	15.4114	0.74923	0.0:0.0:0.0:1.0	.	2455;2455;2455	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2455	ENSP00000360158:M2455V;ENSP00000341097:M2455V	ENSP00000341097:M2455V	M	-	1	0	PKHD1	51843384	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.219000	0.65262	2.233000	0.73108	0.533000	0.62120	ATG		0.333	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51777270	51777270	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51777270C>A	ENST00000371117.3	-	38	6501	c.6226G>T	c.(6226-6228)Gtt>Ttt	p.V2076F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2076F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2076					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V2076F(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGATGACAACTTCATCCCCA	0.478																																					p.V2076F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6226T	6						.						179.0	163.0	169.0					6																	51777270		2203	4300	6503	51885229	SO:0001583	missense	5314	exon38			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6226G>T	6.37:g.51777270C>A	ENSP00000360158:p.Val2076Phe		51885229	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574086	0.86542	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.93247	-3.19;-3.19	5.99	5.99	0.97316	.	0.889096	0.09735	N	0.762686	D	0.91540	0.7328	L	0.61218	1.895	0.31061	N	0.714091	P;P;P	0.50710	0.877;0.938;0.877	B;B;P	0.45037	0.368;0.435;0.467	D	0.88334	0.2970	10	0.72032	D	0.01	.	15.9758	0.80063	0.0:1.0:0.0:0.0	.	2076;2076;2076	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2076	ENSP00000360158:V2076F;ENSP00000341097:V2076F	ENSP00000341097:V2076F	V	-	1	0	PKHD1	51885229	1.000000	0.71417	0.979000	0.43373	0.948000	0.59901	2.682000	0.46934	2.847000	0.97988	0.655000	0.94253	GTT		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51875137	51875137	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51875137C>A	ENST00000371117.3	-	35	5996	c.5721G>T	c.(5719-5721)gaG>gaT	p.E1907D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1907D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1907					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E1907D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTTCCGTATCTCAGTAATCT	0.383																																					p.E1907D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5721T	6						.						141.0	125.0	130.0					6																	51875137		2203	4300	6503	51983096	SO:0001583	missense	5314	exon35			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5721G>T	6.37:g.51875137C>A	ENSP00000360158:p.Glu1907Asp		51983096	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638812	0.47153	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88354	-2.17;-2.37	5.53	4.65	0.58169	.	0.071141	0.64402	D	0.000019	D	0.86464	0.5939	L	0.32530	0.975	0.32774	N	0.503348	D;D	0.69078	0.997;0.988	P;P	0.62184	0.899;0.76	D	0.86984	0.2106	10	0.56958	D	0.05	.	13.3876	0.60805	0.0:0.9232:0.0:0.0768	.	1907;1907	P08F94-2;P08F94	.;PKHD1_HUMAN	D	1907	ENSP00000360158:E1907D;ENSP00000341097:E1907D	ENSP00000341097:E1907D	E	-	3	2	PKHD1	51983096	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.214000	0.51161	1.307000	0.44944	0.557000	0.71058	GAG		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51918880	51918880	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51918880C>A	ENST00000371117.3	-	20	2195	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N	PKHD1_ENST00000340994.4_Missense_Mutation_p.K640N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	640					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K640N(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTGGTATTCTTTACCATGT	0.493																																					p.K640N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1920T	6						.						143.0	117.0	126.0					6																	51918880		2203	4300	6503	52026839	SO:0001583	missense	5314	exon20			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1920G>T	6.37:g.51918880C>A	ENSP00000360158:p.Lys640Asn		52026839	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754618	0.31046	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.09;-2.29	5.36	5.36	0.76844	.	0.162599	0.42548	D	0.000683	T	0.74321	0.3701	M	0.64997	1.995	0.31366	N	0.680748	B;P	0.39480	0.347;0.675	B;B	0.30782	0.12;0.111	T	0.76903	-0.2787	10	0.54805	T	0.06	.	9.8404	0.40996	0.0:0.8427:0.0:0.1573	.	640;640	P08F94-2;P08F94	.;PKHD1_HUMAN	N	640	ENSP00000360158:K640N;ENSP00000341097:K640N	ENSP00000341097:K640N	K	-	3	2	PKHD1	52026839	0.959000	0.32827	0.987000	0.45799	0.136000	0.21042	0.725000	0.25970	2.516000	0.84829	0.591000	0.81541	AAG		0.493	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51929780	51929780	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:51929780C>A	ENST00000371117.3	-	13	1224	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.D317Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	317	IPT/TIG 3.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.D317Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCCTCACATCTTTTCCTGGA	0.448																																					p.D317Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G949T	6						.						98.0	97.0	97.0					6																	51929780		2203	4300	6503	52037739	SO:0001583	missense	5314	exon13			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.949G>T	6.37:g.51929780C>A	ENSP00000360158:p.Asp317Tyr		52037739	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743665	0.15642	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87729	-2.08;-2.29	5.77	3.04	0.35103	Cell surface receptor IPT/TIG (1);	0.642544	0.15132	N	0.278769	T	0.66015	0.2747	N	0.22421	0.69	0.09310	N	1	P;P	0.40834	0.683;0.73	B;B	0.41440	0.163;0.357	T	0.59107	-0.7516	10	0.56958	D	0.05	.	6.8385	0.23949	0.0:0.6607:0.1269:0.2125	.	317;317	P08F94-2;P08F94	.;PKHD1_HUMAN	Y	317	ENSP00000360158:D317Y;ENSP00000341097:D317Y	ENSP00000341097:D317Y	D	-	1	0	PKHD1	52037739	0.000000	0.05858	0.334000	0.25495	0.311000	0.27955	-0.229000	0.09098	0.454000	0.26884	-0.137000	0.14449	GAT		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
MCM3	4172	broad.mit.edu	37	6	52141212	52141212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52141212C>A	ENST00000229854.7	-	9	1304	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	MCM3_ENST00000419835.2_Nonsense_Mutation_p.E364*|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000596288.1_Nonsense_Mutation_p.E455*			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	410	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E410*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TTGTCAAATTCATCAATGCAA	0.532																																					p.E410X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1228T	6						.						89.0	72.0	77.0					6																	52141212		2203	4300	6503	52249171	SO:0001587	stop_gained	4172	exon9			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1228G>T	6.37:g.52141212C>A	ENSP00000229854:p.Glu410*		52249171	NM_002388	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Nonsense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	C	38	6.683601	0.97759	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8408	18.7743	0.91904	0.0:1.0:0.0:0.0	.	.	.	.	X	410;364	.	ENSP00000229854:E410X	E	-	1	0	MCM3	52249171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.669000	0.90835	0.655000	0.94253	GAA		0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
MCM3	4172	broad.mit.edu	37	6	52146962	52146962	+	Missense_Mutation	SNP	G	G	A	rs371347878		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52146962G>A	ENST00000229854.7	-	4	488	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	MCM3_ENST00000419835.2_Missense_Mutation_p.R92C|MCM3_ENST00000476448.1_5'Flank|MCM3_ENST00000596288.1_Missense_Mutation_p.R183C			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	138					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R138C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACTTTGGGACGAACTAGAGAA	0.478																																					p.R138C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412T	6						.	G	CYS/ARG	0,4406		0,0,2203	137.0	125.0	129.0		412	5.7	1.0	6		129	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCM3	NM_002388.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	138/809	52146962	1,13005	2203	4300	6503	52254921	SO:0001583	missense	4172	exon4			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.412C>T	6.37:g.52146962G>A	ENSP00000229854:p.Arg138Cys		52254921	NM_002388	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	G	29.4	5.004579	0.93287	0.0	1.16E-4	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.05447	3.44;3.44	5.69	5.69	0.88448	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.959;0.993	T	0.49062	-0.8978	10	0.62326	D	0.03	-9.1986	19.8155	0.96566	0.0:0.0:1.0:0.0	.	92;138	B4DUQ9;P25205	.;MCM3_HUMAN	C	138;92	ENSP00000229854:R138C;ENSP00000388647:R92C	ENSP00000229854:R138C	R	-	1	0	MCM3	52254921	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.803000	0.85983	2.691000	0.91804	0.563000	0.77884	CGT		0.478	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
EFHC1	114327	broad.mit.edu	37	6	52303219	52303219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52303219G>T	ENST00000371068.5	+	3	506	c.403G>T	c.(403-405)Gag>Tag	p.E135*	EFHC1_ENST00000538167.1_Nonsense_Mutation_p.E116*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.E44*|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	135	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.E135*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTCTGTCATAGAGCCTGTTGT	0.423																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	6						.						61.0	62.0	62.0					6																	52303219		2203	4300	6503	52411178	SO:0001587	stop_gained	114327	exon3			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.403G>T	6.37:g.52303219G>T	ENSP00000360107:p.Glu135*		52411178	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Nonsense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530879	0.96446	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5359	0.95254	0.0:0.0:1.0:0.0	.	.	.	.	X	135;44;116	.	ENSP00000360107:E135X	E	+	1	0	EFHC1	52411178	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	7.897000	0.87356	2.617000	0.88574	0.655000	0.94253	GAG		0.423	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
EFHC1	114327	broad.mit.edu	37	6	52318904	52318904	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52318904C>A	ENST00000371068.5	+	5	838	c.735C>A	c.(733-735)ttC>ttA	p.F245L	EFHC1_ENST00000538167.1_Missense_Mutation_p.F226L|EFHC1_ENST00000433625.2_Missense_Mutation_p.F154L	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	245	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.F245L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TCCTTCGATTCTATGCAATCT	0.403																																					p.F245L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C735A	6						.						130.0	118.0	122.0					6																	52318904		2203	4300	6503	52426863	SO:0001583	missense	114327	exon5			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.735C>A	6.37:g.52318904C>A	ENSP00000360107:p.Phe245Leu		52426863	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725480	0.68959	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.80653	-1.11;-1.35;-1.4	5.87	3.15	0.36227	Uncharacterised domain DM10 (2);	0.042830	0.85682	D	0.000000	D	0.90954	0.7156	H	0.95884	3.735	0.46437	D	0.999041	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75484	0.983;0.967;0.986	D	0.93273	0.6653	10	0.87932	D	0	-17.5269	15.0862	0.72155	0.0:0.87:0.0:0.13	.	226;154;245	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	L	245;154;226	ENSP00000360107:F245L;ENSP00000416492:F154L;ENSP00000444521:F226L	ENSP00000360107:F245L	F	+	3	2	EFHC1	52426863	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	1.149000	0.31626	0.396000	0.25283	-1.287000	0.01368	TTC		0.403	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
EFHC1	114327	broad.mit.edu	37	6	52318995	52318995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52318995C>T	ENST00000371068.5	+	5	929	c.826C>T	c.(826-828)Cga>Tga	p.R276*	EFHC1_ENST00000538167.1_Nonsense_Mutation_p.R257*|EFHC1_ENST00000433625.2_Nonsense_Mutation_p.R185*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.R276*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GGTGGAAATTCGAGAGGTCCA	0.448																																					p.R276X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C826T	6						.						179.0	162.0	167.0					6																	52318995		2203	4300	6503	52426954	SO:0001587	stop_gained	114327	exon5			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.826C>T	6.37:g.52318995C>T	ENSP00000360107:p.Arg276*		52426954	NM_018100	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Nonsense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	38	6.971522	0.97971	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.87	4.99	0.66335	.	0.250637	0.40469	N	0.001087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.2299	14.2317	0.65898	0.2703:0.7297:0.0:0.0	.	.	.	.	X	276;185;257	.	ENSP00000360107:R276X	R	+	1	2	EFHC1	52426954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.974000	0.29436	1.460000	0.47911	0.591000	0.81541	CGA		0.448	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
TRAM2	9697	broad.mit.edu	37	6	52400622	52400622	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52400622A>C	ENST00000182527.3	-	2	142	c.143T>G	c.(142-144)cTa>cGa	p.L48R		NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	48					collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.L48R(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TAAAATAAATAGAAAGGCAGT	0.453																																					p.L48R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T143G	6						.						97.0	95.0	96.0					6																	52400622		2203	4300	6503	52508581	SO:0001583	missense	9697	exon2			D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.143T>G	6.37:g.52400622A>C	ENSP00000182527:p.Leu48Arg		52508581	NM_012288	A8K6T6	Missense_Mutation	SNP	ENST00000182527.3	37	CCDS34477.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229468	0.79688	.	.	ENSG00000065308	ENST00000182527	.	.	.	5.14	5.14	0.70334	TRAM1-like protein (1);	0.074317	0.53938	D	0.000048	T	0.58075	0.2097	M	0.61703	1.905	0.58432	D	0.999999	D	0.54047	0.964	P	0.58077	0.832	T	0.57849	-0.7740	9	0.31617	T	0.26	.	12.788	0.57518	1.0:0.0:0.0:0.0	.	48	Q15035	TRAM2_HUMAN	R	48	.	ENSP00000182527:L48R	L	-	2	0	TRAM2	52508581	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.240000	0.65378	2.071000	0.62044	0.533000	0.62120	CTA		0.453	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288	
GSTA3	2940	broad.mit.edu	37	6	52768485	52768485	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52768485T>G	ENST00000211122.3	-	3	193	c.128A>C	c.(127-129)aAg>aCg	p.K43T	GSTA3_ENST00000370968.1_5'UTR	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	43	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K43T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATTTCTTAACTTTCCCAAATC	0.368																																					p.K43T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A128C	6						.						124.0	120.0	121.0					6																	52768485		2202	4300	6502	52876444	SO:0001583	missense	2940	exon3			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.128A>C	6.37:g.52768485T>G	ENSP00000211122:p.Lys43Thr		52876444	NM_000847	O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843116	0.32606	.	.	ENSG00000174156	ENST00000211122	T	0.08807	3.05	3.94	2.77	0.32553	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.171641	0.49916	D	0.000140	T	0.09423	0.0232	M	0.82433	2.59	0.24266	N	0.995261	P	0.39940	0.696	P	0.48141	0.568	T	0.04090	-1.0978	10	0.87932	D	0	.	9.0867	0.36586	0.0:0.0902:0.0:0.9098	.	43	Q16772	GSTA3_HUMAN	T	43	ENSP00000211122:K43T	ENSP00000211122:K43T	K	-	2	0	GSTA3	52876444	0.979000	0.34478	0.005000	0.12908	0.048000	0.14542	3.442000	0.52900	0.678000	0.31325	-0.262000	0.10625	AAG		0.368	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1		
ICK	22858	broad.mit.edu	37	6	52876668	52876668	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52876668C>A	ENST00000350082.5	-	11	1737	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V	ICK_ENST00000356971.3_Missense_Mutation_p.G464V	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	464					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.G464V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GGCACTGTTTCCTGTGCCCAC	0.542																																					p.G464V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1391T	6						.						98.0	99.0	99.0					6																	52876668		2203	4300	6503	52984627	SO:0001583	missense	22858	exon12			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1391G>T	6.37:g.52876668C>A	ENSP00000263043:p.Gly464Val		52984627	NM_016513	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179790	0.38511	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.72167	-0.63;-0.63	5.66	5.66	0.87406	.	0.111999	0.64402	D	0.000008	T	0.51719	0.1691	L	0.46157	1.445	0.80722	D	1	B	0.27765	0.188	B	0.26864	0.074	T	0.55438	-0.8141	10	0.44086	T	0.13	-3.5697	12.9995	0.58667	0.0:0.9265:0.0:0.0735	.	464	Q9UPZ9	ICK_HUMAN	V	464	ENSP00000263043:G464V;ENSP00000349458:G464V	ENSP00000263043:G464V	G	-	2	0	ICK	52984627	1.000000	0.71417	0.951000	0.38953	0.450000	0.32258	2.174000	0.42482	2.665000	0.90641	0.561000	0.74099	GGA		0.542	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	
FBXO9	26268	broad.mit.edu	37	6	52958696	52958696	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:52958696C>A	ENST00000244426.6	+	10	1175	c.1003C>A	c.(1003-1005)Cta>Ata	p.L335I	FBXO9_ENST00000370939.3_Missense_Mutation_p.L291I|RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000323557.7_Missense_Mutation_p.L325I	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	335					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L335I(1)		kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TGATGCAATTCTACTGGGTCA	0.308																																					p.L335I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1003A	6						.						45.0	39.0	41.0					6																	52958696		1805	4028	5833	53066655	SO:0001583	missense	26268	exon10			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1003C>A	6.37:g.52958696C>A	ENSP00000244426:p.Leu335Ile		53066655	NM_012347	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	ENST00000244426.6	37	CCDS55023.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.43|12.43|12.43	1.934180|1.934180|1.934180	0.34096|0.34096|0.34096	.|.|.	.|.|.	ENSG00000112146|ENSG00000112146|ENSG00000112146	ENST00000473318|ENST00000370939;ENST00000323557;ENST00000244426|ENST00000484436	.|T;T;T|.	.|0.79845|.	.|-1.3;-1.31;-1.31|.	5.53|5.53|5.53	3.75|3.75|3.75	0.43078|0.43078|0.43078	.|F-box domain, Skp2-like (1);|.	.|0.068182|.	.|0.64402|.	.|D|.	.|0.000011|.	T|T|T	0.66597|0.66597|0.66597	0.2805|0.2805|0.2805	M|M|M	0.82517|0.82517|0.82517	2.595|2.595|2.595	0.50467|0.50467|0.50467	D|D|D	0.999875|0.999875|0.999875	.|D;D;D|.	.|0.60160|.	.|0.987;0.972;0.969|.	.|P;P;P|.	.|0.59889|.	.|0.865;0.757;0.489|.	T|T|T	0.70163|0.70163|0.70163	-0.4947|-0.4947|-0.4947	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-9.5132|-9.5132|-9.5132	10.9906|10.9906|10.9906	0.47547|0.47547|0.47547	0.0:0.7853:0.0:0.2147|0.0:0.7853:0.0:0.2147|0.0:0.7853:0.0:0.2147	.|.|.	.|325;442;335|.	.|Q9UK97-2;Q59EH8;Q9UK97|.	.|.;.;FBX9_HUMAN|.	L|I|Y	33|291;325;335|45	.|ENSP00000359977:L291I;ENSP00000326968:L325I;ENSP00000244426:L335I|.	.|ENSP00000244426:L335I|.	F|L|S	+|+|+	3|1|2	2|2|0	FBXO9|FBXO9|FBXO9	53066655|53066655|53066655	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.565000|0.565000|0.565000	0.35776|0.35776|0.35776	0.592000|0.592000|0.592000	0.23984|0.23984|0.23984	1.343000|1.343000|1.343000	0.45638|0.45638|0.45638	-0.363000|-0.363000|-0.363000	0.07495|0.07495|0.07495	TTC|CTA|TCT		0.308	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040950.3		
LRRC1	55227	broad.mit.edu	37	6	53769233	53769233	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:53769233A>C	ENST00000370888.1	+	10	1240	c.963A>C	c.(961-963)agA>agC	p.R321S		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	321						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R321S(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATGCAGACAGAAATAAATTAG	0.279																																					p.R321S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A963C	6						.						89.0	85.0	86.0					6																	53769233		1822	4071	5893	53877192	SO:0001583	missense	55227	exon10			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.963A>C	6.37:g.53769233A>C	ENSP00000359925:p.Arg321Ser		53877192	NM_018214	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107398	0.77096	.	.	ENSG00000137269	ENST00000370888	T	0.54866	0.55	5.5	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	N	0.05592	-0.015	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.27123	-1.0083	10	0.24483	T	0.36	.	7.447	0.27217	0.8313:0.0:0.1687:0.0	.	321	Q9BTT6	LRRC1_HUMAN	S	321	ENSP00000359925:R321S	ENSP00000359925:R321S	R	+	3	2	LRRC1	53877192	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.663000	0.46774	0.917000	0.36895	0.528000	0.53228	AGA		0.279	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
TINAG	27283	broad.mit.edu	37	6	54173366	54173366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:54173366G>T	ENST00000259782.4	+	1	114	c.18G>T	c.(16-18)aaG>aaT	p.K6N	TINAG_ENST00000370869.3_Intron|TINAG_ENST00000370864.3_5'Flank|TINAG_ENST00000486436.1_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	6					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.K6N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCGGATATAAGATCTTAATCT	0.408																																					p.K6N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G18T	6						.						47.0	46.0	46.0					6																	54173366		2203	4300	6503	54281325	SO:0001583	missense	27283	exon1			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.18G>T	6.37:g.54173366G>T	ENSP00000259782:p.Lys6Asn		54281325	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906938	0.33628	.	.	ENSG00000137251	ENST00000339741;ENST00000259782	T	0.67345	-0.26	5.49	1.68	0.24146	.	0.283721	0.31071	N	0.008313	T	0.39860	0.1094	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.27559	0.09;0.181	B;B	0.24155	0.051;0.03	T	0.39418	-0.9615	10	0.59425	D	0.04	.	7.9011	0.29736	0.3546:0.0:0.6454:0.0	.	6;6	Q9UJW2;Q7Z477	TINAG_HUMAN;.	N	6	ENSP00000259782:K6N	ENSP00000259782:K6N	K	+	3	2	TINAG	54281325	0.750000	0.28316	0.980000	0.43619	0.855000	0.48748	1.162000	0.31786	0.377000	0.24735	0.655000	0.94253	AAG		0.408	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
TINAG	27283	broad.mit.edu	37	6	54254624	54254624	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:54254624G>T	ENST00000259782.4	+	11	1428	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	444					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E444D(1)|p.E444E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATGGGGAGAGAATGGCTATT	0.393																																					p.E444D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1332T	6						.						132.0	130.0	131.0					6																	54254624		2203	4300	6503	54362583	SO:0001583	missense	27283	exon11			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1332G>T	6.37:g.54254624G>T	ENSP00000259782:p.Glu444Asp		54362583	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863652	0.71949	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.85556	-2.0	5.89	4.1	0.47936	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000002	D	0.83866	0.5347	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82727	-0.0314	10	0.36615	T	0.2	.	9.2285	0.37421	0.1681:0.0:0.8319:0.0	.	444	Q9UJW2	TINAG_HUMAN	D	303;444;123	ENSP00000259782:E444D	ENSP00000259782:E444D	E	+	3	2	TINAG	54362583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.137000	0.42130	0.821000	0.34540	-0.218000	0.12543	GAG		0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
FAM83B	222584	broad.mit.edu	37	6	54792319	54792319	+	Missense_Mutation	SNP	G	G	A	rs76434524	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:54792319G>A	ENST00000306858.7	+	4	739	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	208								p.R208Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATTCGAGTGCGAACAGTAAAA	0.313													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		12276	0.0		0.0	False		,,,				2504	0.0				p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	6						.	G	GLN/ARG	16,4388	20.2+/-43.8	0,16,2186	73.0	77.0	76.0		623	5.9	1.0	6	dbSNP_131	76	2,8598	1.2+/-3.3	0,2,4298	yes	missense	FAM83B	NM_001010872.1	43	0,18,6484	AA,AG,GG		0.0233,0.3633,0.1384	probably-damaging	208/1012	54792319	18,12986	2202	4300	6502	54900278	SO:0001583	missense	222584	exon4			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.623G>A	6.37:g.54792319G>A	ENSP00000304078:p.Arg208Gln		54900278	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	35	5.537151	0.96460	0.003633	2.33E-4	ENSG00000168143	ENST00000306858	T	0.22336	1.96	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.84511	2.7	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.52139	-0.8615	10	0.72032	D	0.01	-18.9956	20.3931	0.98965	0.0:0.0:1.0:0.0	.	208	Q5T0W9	FA83B_HUMAN	Q	208	ENSP00000304078:R208Q	ENSP00000304078:R208Q	R	+	2	0	FAM83B	54900278	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.439000	0.97543	2.824000	0.97209	0.655000	0.94253	CGA		0.313	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
FAM83B	222584	broad.mit.edu	37	6	54805889	54805889	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:54805889C>A	ENST00000306858.7	+	5	2236	c.2120C>A	c.(2119-2121)tCt>tAt	p.S707Y	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	707								p.S707Y(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGAAAAGTTCTAAAAGCATG	0.388																																					p.S707Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2120A	6						.						90.0	92.0	91.0					6																	54805889		2203	4300	6503	54913848	SO:0001583	missense	222584	exon5			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2120C>A	6.37:g.54805889C>A	ENSP00000304078:p.Ser707Tyr		54913848	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729146	0.15507	.	.	ENSG00000168143	ENST00000306858	T	0.34275	1.37	5.55	2.78	0.32641	.	11.160900	0.00166	N	0.000000	T	0.27765	0.0683	M	0.65975	2.015	0.39101	D	0.961283	P	0.42785	0.79	B	0.40782	0.34	T	0.25779	-1.0122	10	0.59425	D	0.04	-12.6889	10.8617	0.46831	0.0:0.5604:0.3743:0.0654	.	707	Q5T0W9	FA83B_HUMAN	Y	707	ENSP00000304078:S707Y	ENSP00000304078:S707Y	S	+	2	0	FAM83B	54913848	0.520000	0.26250	0.844000	0.33320	0.511000	0.34104	0.787000	0.26858	0.382000	0.24878	-0.150000	0.13652	TCT		0.388	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
FAM83B	222584	broad.mit.edu	37	6	54806507	54806507	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:54806507C>A	ENST00000306858.7	+	5	2854	c.2738C>A	c.(2737-2739)aCt>aAt	p.T913N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	913								p.T913N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAAGACCTACTTCTTCTCCA	0.463																																					p.T913N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2738A	6						.						111.0	100.0	103.0					6																	54806507		2203	4300	6503	54914466	SO:0001583	missense	222584	exon5			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2738C>A	6.37:g.54806507C>A	ENSP00000304078:p.Thr913Asn		54914466	NM_001010872	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	5.255	0.232510	0.09969	.	.	ENSG00000168143	ENST00000306858	T	0.07114	3.22	5.24	4.37	0.52481	.	2.791760	0.01197	N	0.007461	T	0.03348	0.0097	L	0.40543	1.245	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.41752	-0.9491	10	0.26408	T	0.33	-1.9391	11.1085	0.48218	0.0:0.8371:0.0:0.1629	.	913	Q5T0W9	FA83B_HUMAN	N	913	ENSP00000304078:T913N	ENSP00000304078:T913N	T	+	2	0	FAM83B	54914466	0.011000	0.17503	0.022000	0.16811	0.046000	0.14306	2.015000	0.40961	1.345000	0.45676	0.655000	0.94253	ACT		0.463	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
HCRTR2	3062	broad.mit.edu	37	6	55039580	55039580	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55039580C>T	ENST00000370862.3	+	1	531	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	65					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.F65F(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCATCGTGTTCGTCGTGGCTC	0.597																																					p.F65F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	6						.						122.0	103.0	110.0					6																	55039580		2203	4300	6503	55147539	SO:0001819	synonymous_variant	3062	exon1			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.195C>T	6.37:g.55039580C>T			55147539	NM_001526	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.597	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
HCRTR2	3062	broad.mit.edu	37	6	55113600	55113600	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55113600G>T	ENST00000370862.3	+	2	723	c.387G>T	c.(385-387)gtG>gtT	p.V129V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	129					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.V129V(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGCAAAGTGATTCCTTATC	0.423																																					p.V129V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G387T	6						.						222.0	210.0	214.0					6																	55113600		2203	4299	6502	55221559	SO:0001819	synonymous_variant	3062	exon2			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.387G>T	6.37:g.55113600G>T			55221559	NM_001526	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.423	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
GFRAL	389400	broad.mit.edu	37	6	55264003	55264003	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55264003A>C	ENST00000340465.2	+	7	1064	c.978A>C	c.(976-978)aaA>aaC	p.K326N		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	326					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K326N(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTAATGTCAAAGGCATGGCAT	0.284																																					p.K326N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A978C	6						.						37.0	37.0	37.0					6																	55264003		2203	4292	6495	55371962	SO:0001583	missense	389400	exon7			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.978A>C	6.37:g.55264003A>C	ENSP00000343636:p.Lys326Asn		55371962	NM_207410	Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942180	0.34283	.	.	ENSG00000187871	ENST00000340465	T	0.39787	1.06	5.79	3.41	0.39046	.	0.641614	0.14166	N	0.337044	T	0.22936	0.0554	L	0.27053	0.805	0.09310	N	0.999999	D	0.59767	0.986	P	0.58660	0.843	T	0.07309	-1.0779	10	0.22109	T	0.4	-2.6064	7.4661	0.27322	0.8303:0.0:0.1697:0.0	.	326	Q6UXV0	GFRAL_HUMAN	N	326	ENSP00000343636:K326N	ENSP00000343636:K326N	K	+	3	2	GFRAL	55371962	0.056000	0.20664	0.026000	0.17262	0.041000	0.13682	0.873000	0.28052	0.466000	0.27193	0.533000	0.62120	AAA		0.284	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410	
HMGCLL1	54511	broad.mit.edu	37	6	55300533	55300533	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55300533G>A	ENST00000398661.2	-	10	1171	c.1040C>T	c.(1039-1041)gCt>gTt	p.A347V	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.A214V|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.A285V|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.A151V|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A317V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	347					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.A347V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGTCACCAGCTTCCATCAC	0.388																																					p.A347V	Ovarian(35;840 893 7837 15538 42887)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1040T	6						.						117.0	116.0	117.0					6																	55300533		1849	4081	5930	55408492	SO:0001583	missense	54511	exon10			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.1040C>T	6.37:g.55300533G>A	ENSP00000381654:p.Ala347Val		55408492	NM_019036	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788618	0.70337	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98120	-4.73;-4.73;-4.44;-4.73;-4.73	5.36	5.36	0.76844	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	L	0.45285	1.41	0.80722	D	1	D;D;B;B;P	0.76494	0.999;0.997;0.429;0.351;0.464	D;D;B;B;B	0.78314	0.991;0.967;0.263;0.062;0.028	D	0.97498	1.0058	10	0.39692	T	0.17	-16.0533	19.0955	0.93249	0.0:0.0:1.0:0.0	.	151;214;285;317;347	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	V	317;347;214;151;285	ENSP00000274901:A317V;ENSP00000381654:A347V;ENSP00000359887:A214V;ENSP00000424309:A151V;ENSP00000309737:A285V	ENSP00000274901:A317V	A	-	2	0	HMGCLL1	55408492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.511000	0.84671	0.655000	0.94253	GCT		0.388	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
HMGCLL1	54511	broad.mit.edu	37	6	55360281	55360281	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55360281G>A	ENST00000398661.2	-	8	952	c.821C>T	c.(820-822)gCt>gTt	p.A274V	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.A141V|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.A212V|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.A244V	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	274					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)	p.A274V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AACAGCAAGAGCACCTGGTGG	0.428																																					p.A274V	Ovarian(35;840 893 7837 15538 42887)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C821T	6						.						145.0	131.0	136.0					6																	55360281		1896	4117	6013	55468240	SO:0001583	missense	54511	exon8			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.821C>T	6.37:g.55360281G>A	ENSP00000381654:p.Ala274Val		55468240	NM_019036	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116870	0.56505	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.98178	-4.77;-4.77;-4.73;-4.77	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.72118	2.19	0.80722	D	1	D;P;P;P	0.89917	1.0;0.611;0.923;0.938	D;B;B;P	0.83275	0.996;0.29;0.335;0.595	D	0.98583	1.0651	10	0.40728	T	0.16	-18.3909	19.6685	0.95901	0.0:0.0:1.0:0.0	.	141;212;244;274	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	V	244;274;141;212	ENSP00000274901:A244V;ENSP00000381654:A274V;ENSP00000359887:A141V;ENSP00000309737:A212V	ENSP00000274901:A244V	A	-	2	0	HMGCLL1	55468240	1.000000	0.71417	0.977000	0.42913	0.743000	0.42351	9.776000	0.99001	2.639000	0.89480	0.655000	0.94253	GCT		0.428	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383	
BMP5	653	broad.mit.edu	37	6	55638897	55638897	+	Missense_Mutation	SNP	C	C	T	rs371743666		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:55638897C>T	ENST00000370830.3	-	4	1675	c.977G>A	c.(976-978)cGc>cAc	p.R326H	BMP5_ENST00000446683.2_Missense_Mutation_p.R326H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	326					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R326H(1)|p.R326L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGATTTATTGCGGTTTTGATT	0.473																																					p.R326H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G977A	6						.	C	HIS/ARG	0,4406		0,0,2203	186.0	161.0	169.0		977	5.7	1.0	6		169	2,8598	2.2+/-6.3	0,2,4298	no	missense	BMP5	NM_021073.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	326/455	55638897	2,13004	2203	4300	6503	55746856	SO:0001583	missense	653	exon4				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.977G>A	6.37:g.55638897C>T	ENSP00000359866:p.Arg326His		55746856	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299688	0.95574	0.0	2.33E-4	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.75367	-0.93;-0.62	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.73949	-0.3821	10	0.34782	T	0.22	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	326;326	B4E0Y4;P22003	.;BMP5_HUMAN	H	326	ENSP00000359866:R326H;ENSP00000391818:R326H	ENSP00000359866:R326H	R	-	2	0	BMP5	55746856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.703000	0.92315	0.655000	0.94253	CGC		0.473	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
COL21A1	81578	broad.mit.edu	37	6	56035610	56035610	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56035610C>A	ENST00000244728.5	-	5	1260	c.863G>T	c.(862-864)aGa>aTa	p.R288I	COL21A1_ENST00000535941.1_Missense_Mutation_p.R288I|COL21A1_ENST00000370819.1_Missense_Mutation_p.R288I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	288	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R288I(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACTTTAAATCTTTGAGTAGA	0.333																																					p.R288I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G863T	6						.						66.0	58.0	61.0					6																	56035610		1817	4073	5890	56143569	SO:0001583	missense	81578	exon5			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.863G>T	6.37:g.56035610C>A	ENSP00000244728:p.Arg288Ile		56143569	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581578	0.46006	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.02216	4.39;4.39;4.39	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000017	T	0.10121	0.0248	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.991	T	0.02581	-1.1138	10	0.87932	D	0	.	17.5385	0.87840	0.0:1.0:0.0:0.0	.	288;288	Q96P44-3;Q96P44	.;COLA1_HUMAN	I	288	ENSP00000244728:R288I;ENSP00000359855:R288I;ENSP00000444384:R288I	ENSP00000244728:R288I	R	-	2	0	COL21A1	56143569	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.359000	0.52292	2.126000	0.65437	0.591000	0.81541	AGA		0.333	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56044469	56044469	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56044469C>T	ENST00000244728.5	-	3	944	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	COL21A1_ENST00000535941.1_Missense_Mutation_p.A183T|COL21A1_ENST00000370819.1_Missense_Mutation_p.A183T	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	183	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.A183T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGCTTGTTGGCAATAGCTCTA	0.393																																					p.A183T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G547A	6						.						88.0	81.0	83.0					6																	56044469		1902	4133	6035	56152428	SO:0001583	missense	81578	exon3			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.547G>A	6.37:g.56044469C>T	ENSP00000244728:p.Ala183Thr		56152428	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982169	0.74474	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.87650	-2.28;-2.28;-2.28	4.66	4.66	0.58398	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000021	D	0.92028	0.7474	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92935	0.6367	10	0.72032	D	0.01	.	17.9099	0.88930	0.0:1.0:0.0:0.0	.	183;183	Q96P44-3;Q96P44	.;COLA1_HUMAN	T	183	ENSP00000244728:A183T;ENSP00000359855:A183T;ENSP00000444384:A183T	ENSP00000244728:A183T	A	-	1	0	COL21A1	56152428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.524000	0.81866	2.283000	0.76528	0.585000	0.79938	GCC		0.393	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56044618	56044618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56044618C>T	ENST00000244728.5	-	3	795	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	COL21A1_ENST00000535941.1_Missense_Mutation_p.R133Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.R133Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	133	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.R133Q(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGTCAGAAATCGTGAGGACTT	0.448																																					p.R133Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G398A	6						.						94.0	90.0	91.0					6																	56044618		1989	4169	6158	56152577	SO:0001583	missense	81578	exon3			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.398G>A	6.37:g.56044618C>T	ENSP00000244728:p.Arg133Gln		56152577	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379664	0.82682	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;D	0.98889	-4.4;-4.4;-4.4;-5.21	4.75	4.75	0.60458	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000021	D	0.98833	0.9606	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99320	1.0906	10	0.46703	T	0.11	.	18.1172	0.89559	0.0:1.0:0.0:0.0	.	133;133	Q96P44-3;Q96P44	.;COLA1_HUMAN	Q	133	ENSP00000244728:R133Q;ENSP00000359855:R133Q;ENSP00000444384:R133Q;ENSP00000359853:R133Q	ENSP00000244728:R133Q	R	-	2	0	COL21A1	56152577	1.000000	0.71417	0.936000	0.37596	0.994000	0.84299	7.500000	0.81588	2.331000	0.79229	0.650000	0.86243	CGA		0.448	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56357099	56357099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56357099G>A	ENST00000361203.3	-	80	19730	c.19723C>T	c.(19723-19725)Cga>Tga	p.R6575*	DST_ENST00000244364.6_Nonsense_Mutation_p.R4272*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.R4598*|DST_ENST00000370769.4_Nonsense_Mutation_p.R6686*|DST_ENST00000370754.5_Nonsense_Mutation_p.R6864*|DST_ENST00000370788.2_Nonsense_Mutation_p.R4489*|DST_ENST00000340834.4_5'Flank|DST_ENST00000446842.2_Nonsense_Mutation_p.R6360*			Q03001	DYST_HUMAN	dystonin	6575					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R6686*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTCCCATCGACTTTGTACA	0.383																																					p.R4272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C12814T	6						.						142.0	130.0	134.0					6																	56357099		1861	4091	5952	56465058	SO:0001587	stop_gained	667	exon66			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19723C>T	6.37:g.56357099G>A	ENSP00000354508:p.Arg6575*		56465058	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	58	32.432126	0.99980	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.54	4.61	0.57282	.	0.000000	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5389	0.76024	0.0:0.0:0.7928:0.2072	.	.	.	.	X	4272;6864;6686;4598;6360;4489;6575	.	ENSP00000244364:R4272X	R	-	1	2	DST	56465058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.223000	0.58587	2.758000	0.94735	0.591000	0.81541	CGA		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56362797	56362797	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56362797C>A	ENST00000361203.3	-	76	18998	c.18991G>T	c.(18991-18993)Gca>Tca	p.A6331S	DST_ENST00000244364.6_Missense_Mutation_p.A4028S|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A4354S|DST_ENST00000370769.4_Missense_Mutation_p.A6442S|DST_ENST00000370754.5_Missense_Mutation_p.A6620S|DST_ENST00000370788.2_Missense_Mutation_p.A4245S|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.A6116S			Q03001	DYST_HUMAN	dystonin	6330					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A6442S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTTCCTGCTTTATTAACG	0.373																																					p.A4028S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12082T	6						.						193.0	179.0	183.0					6																	56362797		1888	4118	6006	56470756	SO:0001583	missense	667	exon62			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18991G>T	6.37:g.56362797C>A	ENSP00000354508:p.Ala6331Ser		56470756	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427030	0.83667	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000096	T	0.63094	0.2482	M	0.71581	2.175	0.30539	N	0.7666189999999999	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.993	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.993	T	0.55774	-0.8088	9	0.30854	T	0.27	.	20.0503	0.97624	0.0:1.0:0.0:0.0	.	4354;6442;6620;6440;4028	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	4028;6620;6442;4354;6116;4245;6331	ENSP00000244364:A4028S;ENSP00000359790:A6620S;ENSP00000359805:A6442S;ENSP00000400883:A4354S;ENSP00000393645:A6116S;ENSP00000359824:A4245S;ENSP00000354508:A6331S	ENSP00000244364:A4028S	A	-	1	0	DST	56470756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.461000	0.80834	2.736000	0.93811	0.591000	0.81541	GCA		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56417040	56417040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56417040G>T	ENST00000361203.3	-	57	15924	c.15917C>A	c.(15916-15918)tCa>tAa	p.S5306*	DST_ENST00000244364.6_Nonsense_Mutation_p.S2894*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.S3220*|DST_ENST00000370769.4_Nonsense_Mutation_p.S5308*|DST_ENST00000370754.5_Nonsense_Mutation_p.S5486*|DST_ENST00000370788.2_Nonsense_Mutation_p.S3220*|DST_ENST00000446842.2_Nonsense_Mutation_p.S4982*			Q03001	DYST_HUMAN	dystonin	5306					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S5308*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGACCTTGTGACTCTTCATG	0.388																																					p.S2894X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C8681A	6						.						95.0	92.0	93.0					6																	56417040		1840	4087	5927	56524999	SO:0001587	stop_gained	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15917C>A	6.37:g.56417040G>T	ENSP00000354508:p.Ser5306*		56524999	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	56	25.960887	0.99967	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.88	5.88	0.94601	.	0.000000	0.44688	D	0.000437	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	.	.	.	X	2894;5486;5308;3220;4982;3220;5306	.	ENSP00000244364:S2894X	S	-	2	0	DST	56524999	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	TCA		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56417396	56417396	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56417396G>A	ENST00000361203.3	-	57	15568	c.15561C>T	c.(15559-15561)ttC>ttT	p.F5187F	DST_ENST00000244364.6_Silent_p.F2775F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.F3101F|DST_ENST00000370769.4_Silent_p.F5189F|DST_ENST00000370754.5_Silent_p.F5367F|DST_ENST00000370788.2_Silent_p.F3101F|DST_ENST00000446842.2_Silent_p.F4863F			Q03001	DYST_HUMAN	dystonin	5187					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.F5189F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAACTCTGCGAACTGAGAAA	0.408																																					p.F2775F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8325T	6						.						58.0	54.0	55.0					6																	56417396		1872	4107	5979	56525355	SO:0001819	synonymous_variant	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15561C>T	6.37:g.56417396G>A			56525355	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56418058	56418058	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56418058G>T	ENST00000361203.3	-	57	14906	c.14899C>A	c.(14899-14901)Ctc>Atc	p.L4967I	DST_ENST00000244364.6_Missense_Mutation_p.L2555I|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L2881I|DST_ENST00000370769.4_Missense_Mutation_p.L4969I|DST_ENST00000370754.5_Missense_Mutation_p.L5147I|DST_ENST00000370788.2_Missense_Mutation_p.L2881I|DST_ENST00000446842.2_Missense_Mutation_p.L4643I			Q03001	DYST_HUMAN	dystonin	4967					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L4969I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATGGCCAGAGAGTCTCTACT	0.368																																					p.L2555I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7663A	6						.						180.0	181.0	181.0					6																	56418058		1828	4072	5900	56526017	SO:0001583	missense	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14899C>A	6.37:g.56418058G>T	ENSP00000354508:p.Leu4967Ile		56526017	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	13.02	2.111151	0.37242	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.76	3.96	0.45880	.	0.000000	0.42420	D	0.000704	T	0.36880	0.0983	M	0.68317	2.08	0.24566	N	0.99395	B;P;P;B;P	0.47545	0.108;0.897;0.897;0.379;0.63	B;P;P;B;B	0.54346	0.025;0.749;0.593;0.048;0.347	T	0.39078	-0.9631	9	0.44086	T	0.13	.	6.3993	0.21630	0.2013:0.0:0.6657:0.133	.	2881;4969;5147;4967;2555	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	2555;5147;4969;2881;4643;2881;4967	ENSP00000244364:L2555I;ENSP00000359790:L5147I;ENSP00000359805:L4969I;ENSP00000400883:L2881I;ENSP00000393645:L4643I;ENSP00000359824:L2881I;ENSP00000354508:L4967I	ENSP00000244364:L2555I	L	-	1	0	DST	56526017	1.000000	0.71417	0.112000	0.21494	0.980000	0.70556	5.468000	0.66743	1.576000	0.49790	0.655000	0.94253	CTC		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56418217	56418217	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56418217A>C	ENST00000361203.3	-	57	14747	c.14740T>G	c.(14740-14742)Tta>Gta	p.L4914V	DST_ENST00000244364.6_Missense_Mutation_p.L2502V|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L2828V|DST_ENST00000370769.4_Missense_Mutation_p.L4916V|DST_ENST00000370754.5_Missense_Mutation_p.L5094V|DST_ENST00000370788.2_Missense_Mutation_p.L2828V|DST_ENST00000446842.2_Missense_Mutation_p.L4590V			Q03001	DYST_HUMAN	dystonin	4914					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L4916V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTTTAATAACAGATTTTCA	0.333																																					p.L2502V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7504G	6						.						112.0	105.0	107.0					6																	56418217		1818	4085	5903	56526176	SO:0001583	missense	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14740T>G	6.37:g.56418217A>C	ENSP00000354508:p.Leu4914Val		56526176	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	12.26	1.885035	0.33255	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.61	1.85	0.25348	.	0.000000	0.38005	N	0.001858	T	0.40979	0.1139	M	0.76574	2.34	0.30609	N	0.759733	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.998;0.99	T	0.35101	-0.9802	9	0.33940	T	0.23	.	9.1933	0.37213	0.6466:0.0:0.3534:0.0	.	2828;4916;5094;4914;2502	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	2502;5094;4916;2828;4590;2828;4914	ENSP00000244364:L2502V;ENSP00000359790:L5094V;ENSP00000359805:L4916V;ENSP00000400883:L2828V;ENSP00000393645:L4590V;ENSP00000359824:L2828V;ENSP00000354508:L4914V	ENSP00000244364:L2502V	L	-	1	2	DST	56526176	0.994000	0.37717	0.709000	0.30452	0.961000	0.63080	2.560000	0.45896	0.141000	0.18875	0.533000	0.62120	TTA		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56443634	56443634	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56443634C>T	ENST00000361203.3	-	46	12379	c.12372G>A	c.(12370-12372)aaG>aaA	p.K4124K	DST_ENST00000244364.6_Silent_p.K1712K|DST_ENST00000312431.6_Silent_p.K4124K|DST_ENST00000421834.2_Silent_p.K2038K|DST_ENST00000370769.4_Silent_p.K4126K|DST_ENST00000370754.5_Silent_p.K4304K|DST_ENST00000370788.2_Silent_p.K2038K|DST_ENST00000446842.2_Silent_p.K3800K			Q03001	DYST_HUMAN	dystonin	4124					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K4126K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATATCATTCTTGGCTGGAA	0.398																																					p.K1712K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5136A	6						.						78.0	79.0	79.0					6																	56443634		1846	4096	5942	56551593	SO:0001819	synonymous_variant	667	exon31			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12372G>A	6.37:g.56443634C>T			56551593	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56480713	56480713	+	Nonsense_Mutation	SNP	G	G	A	rs201023684		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56480713G>A	ENST00000370765.6	-	24	7659	c.7552C>T	c.(7552-7554)Cga>Tga	p.R2518*	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1814					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R2518*(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCACACTGTCGCAGCTGCTGG	0.458																																					p.R2518X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C7552T	6						.	G	stop/ARG,	0,4406		0,0,2203	81.0	83.0	82.0		7552,	4.1	1.0	6		82	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,intron	DST	NM_001723.5,NM_015548.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2518/2650,	56480713	1,13005	2203	4300	6503	56588672	SO:0001587	stop_gained	667	exon24			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7552C>T	6.37:g.56480713G>A	ENSP00000359801:p.Arg2518*		56588672	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	47	13.524804	0.99747	0.0	1.16E-4	ENSG00000151914	ENST00000370765	.	.	.	5.94	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.8795	0.70522	0.0:0.0:0.6272:0.3728	.	.	.	.	X	2518	.	ENSP00000359801:R2518X	R	-	1	2	DST	56588672	1.000000	0.71417	0.993000	0.49108	0.945000	0.59286	4.776000	0.62354	0.809000	0.34255	0.557000	0.71058	CGA		0.458	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56481658	56481658	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56481658C>T	ENST00000370765.6	-	24	6714	c.6607G>A	c.(6607-6609)Gaa>Aaa	p.E2203K	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1619					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E2203K(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCTGAATTCGGGGTCAACA	0.388																																					p.E2203K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6607A	6						.						58.0	62.0	61.0					6																	56481658		2203	4300	6503	56589617	SO:0001583	missense	667	exon24			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6607G>A	6.37:g.56481658C>T	ENSP00000359801:p.Glu2203Lys		56589617	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143802	0.57044	.	.	ENSG00000151914	ENST00000370765	T	0.76578	-1.03	5.77	5.77	0.91146	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.09310	N	0.999993	P	0.43909	0.821	B	0.37550	0.253	T	0.63765	-0.6563	7	0.29301	T	0.29	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	2203	Q03001-3	.	K	2203	ENSP00000359801:E2203K	ENSP00000359801:E2203K	E	-	1	0	DST	56589617	0.995000	0.38212	0.998000	0.56505	0.905000	0.53344	3.173000	0.50839	2.890000	0.99128	0.650000	0.86243	GAA		0.388	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56483424	56483424	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56483424A>C	ENST00000370765.6	-	23	5515	c.5408T>G	c.(5407-5409)cTt>cGt	p.L1803R	DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6536					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L1803R(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGTCTTTCAAGTTCTTTAAT	0.378																																					p.L1803R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5408G	6						.						156.0	146.0	149.0					6																	56483424		2203	4300	6503	56591383	SO:0001583	missense	667	exon23			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5408T>G	6.37:g.56483424A>C	ENSP00000359801:p.Leu1803Arg		56591383	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000370765.6	37	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145046	0.37825	.	.	ENSG00000151914	ENST00000370765	T	0.36340	1.26	5.21	5.21	0.72293	.	.	.	.	.	T	0.28863	0.0716	.	.	.	0.27540	N	0.950815	D	0.55172	0.97	P	0.47981	0.563	T	0.35450	-0.9788	7	0.87932	D	0	.	10.629	0.45525	0.8569:0.0:0.0:0.1431	.	1803	Q03001-3	.	R	1803	ENSP00000359801:L1803R	ENSP00000359801:L1803R	L	-	2	0	DST	56591383	0.927000	0.31430	0.974000	0.42286	0.803000	0.45373	3.574000	0.53863	2.095000	0.63458	0.528000	0.53228	CTT		0.378	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
DST	667	broad.mit.edu	37	6	56499632	56499632	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56499632C>T	ENST00000361203.3	-	21	2680	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P	DST_ENST00000244364.6_Silent_p.P565P|DST_ENST00000518935.1_Silent_p.P565P|DST_ENST00000312431.6_Silent_p.P891P|DST_ENST00000421834.2_Silent_p.P891P|DST_ENST00000370769.4_Silent_p.P891P|DST_ENST00000370754.5_Silent_p.P1069P|DST_ENST00000370788.2_Silent_p.P891P|DST_ENST00000370765.6_Silent_p.P565P|DST_ENST00000446842.2_Silent_p.P565P			Q03001	DYST_HUMAN	dystonin	891	SH3.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.P565P(2)|p.P891P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGCTTTGATCGGAATAGAAG	0.348																																					p.P565P												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G1695A	6						.						225.0	227.0	226.0					6																	56499632		2203	4300	6503	56607591	SO:0001819	synonymous_variant	667	exon11			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2673G>A	6.37:g.56499632C>T			56607591	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56505357	56505357	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56505357A>G	ENST00000361203.3	-	14	1448	c.1441T>C	c.(1441-1443)Tct>Cct	p.S481P	DST_ENST00000244364.6_Missense_Mutation_p.S155P|DST_ENST00000518935.1_Missense_Mutation_p.S155P|DST_ENST00000312431.6_Missense_Mutation_p.S481P|DST_ENST00000421834.2_Missense_Mutation_p.S481P|DST_ENST00000370769.4_Missense_Mutation_p.S481P|DST_ENST00000370754.5_Missense_Mutation_p.S659P|DST_ENST00000370788.2_Missense_Mutation_p.S481P|DST_ENST00000370765.6_Missense_Mutation_p.S155P|DST_ENST00000446842.2_Missense_Mutation_p.S155P			Q03001	DYST_HUMAN	dystonin	481					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.S155P(2)|p.S659P(1)|p.S481P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACACAGAAGAACATTCGTTC	0.393																																					p.S155P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T463C	6						.						100.0	98.0	98.0					6																	56505357		2203	4300	6503	56613316	SO:0001583	missense	667	exon4			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1441T>C	6.37:g.56505357A>G	ENSP00000354508:p.Ser481Pro		56613316	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	17.90	3.502847	0.64298	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55;-3.55	5.65	4.46	0.54185	.	0.000000	0.53938	D	0.000046	D	0.94066	0.8098	L	0.53249	1.67	0.33136	D	0.543702	D;D;D;D;D;P;D;D;P;P	0.89917	0.966;0.966;0.998;0.966;0.999;0.954;0.998;1.0;0.938;0.813	P;B;D;P;D;P;D;D;B;B	0.80764	0.598;0.422;0.986;0.502;0.943;0.548;0.976;0.994;0.422;0.245	D	0.94121	0.7379	9	0.59425	D	0.04	.	8.1458	0.31110	0.7259:0.1403:0.0:0.1339	.	510;481;481;659;597;155;155;155;481;155	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	P	155;659;481;481;155;481;481;481;155;521;155;155;659	ENSP00000244364:S155P;ENSP00000359790:S659P;ENSP00000359805:S481P;ENSP00000400883:S481P;ENSP00000393645:S155P;ENSP00000307959:S481P;ENSP00000359824:S481P;ENSP00000354508:S481P;ENSP00000404924:S155P;ENSP00000431030:S521P;ENSP00000359801:S155P;ENSP00000431003:S155P;ENSP00000393082:S659P	ENSP00000244364:S155P	S	-	1	0	DST	56613316	1.000000	0.71417	0.994000	0.49952	0.683000	0.39861	6.792000	0.75125	1.118000	0.41863	0.533000	0.62120	TCT		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
BEND6	221336	broad.mit.edu	37	6	56879960	56879960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56879960G>T	ENST00000370746.3	+	4	597	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Nonsense_Mutation_p.E12*|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.E110*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCAGTTTGAAGAATTGGTTGG	0.428																																					p.E110X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G328T	6						.						102.0	99.0	100.0					6																	56879960		1935	4130	6065	56987919	SO:0001587	stop_gained	221336	exon4			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.328G>T	6.37:g.56879960G>T	ENSP00000359782:p.Glu110*		56987919	NM_152731	Q4G0W8|Q8N662|Q96NS6	Nonsense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913136	0.92178	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.7276	15.4347	0.75137	0.0:0.0:1.0:0.0	.	.	.	.	X	110;110;12	.	ENSP00000322773:E110X	E	+	1	0	BEND6	56987919	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.990000	0.56965	2.547000	0.85894	0.467000	0.42956	GAA		0.428	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731	
KIAA1586	57691	broad.mit.edu	37	6	56918189	56918189	+	Nonsense_Mutation	SNP	G	G	T	rs370357858		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56918189G>T	ENST00000370733.4	+	4	1099	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	KIAA1586_ENST00000545356.1_Nonsense_Mutation_p.E271*	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	298							nucleic acid binding (GO:0003676)	p.E298*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TATTGCAAAAGAAATGAAGAT	0.323																																					p.E298X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G892T	6						.						37.0	40.0	39.0					6																	56918189		2202	4294	6496	57026148	SO:0001587	stop_gained	57691	exon4			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.892G>T	6.37:g.56918189G>T	ENSP00000359768:p.Glu298*		57026148	NM_020931	A8K4M3|Q8IW25	Nonsense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.708435	0.89018	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	.	.	.	3.82	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	8.5206	0.33273	0.0:0.0:0.7686:0.2314	.	.	.	.	X	298;271	.	ENSP00000359768:E298X	E	+	1	0	KIAA1586	57026148	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.833000	0.27504	0.889000	0.36185	0.467000	0.42956	GAA		0.323	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
KIAA1586	57691	broad.mit.edu	37	6	56918626	56918626	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:56918626T>C	ENST00000370733.4	+	4	1536	c.1329T>C	c.(1327-1329)ttT>ttC	p.F443F	KIAA1586_ENST00000545356.1_Silent_p.F416F	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	443							nucleic acid binding (GO:0003676)	p.F443F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			taaaaatatttattgataaaa	0.239																																					p.F443F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1329C	6						.						7.0	7.0	7.0					6																	56918626		1899	4022	5921	57026585	SO:0001819	synonymous_variant	57691	exon4			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1329T>C	6.37:g.56918626T>C			57026585	NM_020931	A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	CCDS34480.1																																																																																				0.239	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931	
ZNF451	26036	broad.mit.edu	37	6	57006239	57006239	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:57006239G>T	ENST00000370706.4	+	8	1086	c.842G>T	c.(841-843)aGt>aTt	p.S281I	RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S281I|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S281I|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S281I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCCATCAGAGTTTCAAACTG	0.348																																					p.S281I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G842T	6						.						102.0	94.0	97.0					6																	57006239		2203	4300	6503	57114198	SO:0001583	missense	26036	exon8			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.842G>T	6.37:g.57006239G>T	ENSP00000359740:p.Ser281Ile		57114198	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973611	0.34848	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.07567	3.18;3.18;3.18	5.67	0.254	0.15557	.	0.735164	0.14104	N	0.341196	T	0.02156	0.0067	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.08055	0.002;0.001;0.003;0.001	T	0.37384	-0.9708	10	0.22109	T	0.4	-0.5228	2.2229	0.03977	0.1527:0.3803:0.2373:0.2296	.	281;281;281;281	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	I	281	ENSP00000359740:S281I;ENSP00000350083:S281I;ENSP00000421645:S281I	ENSP00000350083:S281I	S	+	2	0	ZNF451	57114198	0.978000	0.34361	0.986000	0.45419	0.990000	0.78478	0.276000	0.18716	0.015000	0.14971	0.585000	0.79938	AGT		0.348	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
RAB23	51715	broad.mit.edu	37	6	57075096	57075096	+	Missense_Mutation	SNP	C	C	T	rs376394715		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:57075096C>T	ENST00000317483.3	-	2	702	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	RAB23_ENST00000468148.1_Missense_Mutation_p.R28Q	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	28					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R28Q(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTGCAATATCGCTGAATCAT	0.378																																					p.R28Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	6						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	216.0	195.0	202.0		83,83	5.6	1.0	6		202	0,8600		0,0,4300	no	missense,missense	RAB23	NM_016277.3,NM_183227.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	28/238,28/238	57075096	1,13005	2203	4300	6503	57183055	SO:0001583	missense	51715	exon2			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.83G>A	6.37:g.57075096C>T	ENSP00000320413:p.Arg28Gln		57183055	NM_016277	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581682	0.86748	2.27E-4	0.0	ENSG00000112210	ENST00000317483;ENST00000468148	D;D	0.81739	-1.53;-1.53	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.87361	0.2344	10	0.87932	D	0	-0.0328	19.4985	0.95083	0.0:1.0:0.0:0.0	.	28	Q9ULC3	RAB23_HUMAN	Q	28	ENSP00000320413:R28Q;ENSP00000417610:R28Q	ENSP00000320413:R28Q	R	-	2	0	RAB23	57183055	1.000000	0.71417	0.980000	0.43619	0.280000	0.26924	7.814000	0.86154	2.602000	0.87976	0.655000	0.94253	CGA		0.378	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		
PRIM2	5558	broad.mit.edu	37	6	57183364	57183364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:57183364G>T	ENST00000607273.1	+	2	208	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	41					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.E41*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATCTTTAATAGAATTTGAAAA	0.368																																					p.E41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G121T	6						.						34.0	33.0	33.0					6																	57183364		1821	4076	5897	57291323	SO:0001587	stop_gained	5558	exon2				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.121G>T	6.37:g.57183364G>T	ENSP00000475738:p.Glu41*		57291323	NM_000947	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Nonsense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.368	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	
PRIM2	5558	broad.mit.edu	37	6	57472420	57472420	+	3'UTR	SNP	C	C	A	rs377484942		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:57472420C>A	ENST00000389488.2	+	0	1296				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.I403I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CATACAAGATCTCTCCTGGAG	0.443																																					p.I403I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1209A	6						.	C		1,4033		0,1,2016	190.0	177.0	181.0		1209	-0.4	0.7	6		181	0,8392		0,0,4196	no	coding-synonymous	PRIM2	XM_003403439.1		0,1,6212	AA,AC,CC		0.0,0.0248,0.0080		403/510	57472420	1,12425	2017	4196	6213	57580379	SO:0001624	3_prime_UTR_variant	5558	exon12				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1293C>A	6.37:g.57472420C>A			57580379	NM_000947	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000389488.2	37																																																																																					0.443	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947	
KHDRBS2	202559	broad.mit.edu	37	6	62688056	62688056	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:62688056A>G	ENST00000281156.4	-	4	676	c.398T>C	c.(397-399)gTa>gCa	p.V133A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	133	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.V133A(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCAATTAATACATGAAGCTC	0.383																																					p.V133A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T398C	6						.						121.0	109.0	113.0					6																	62688056		2203	4300	6503	62746015	SO:0001583	missense	202559	exon4			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.398T>C	6.37:g.62688056A>G	ENSP00000281156:p.Val133Ala		62746015	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658472	0.88154	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.57107	0.42	5.46	5.46	0.80206	K Homology (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.71230	-0.4654	10	0.87932	D	0	-3.77	15.5442	0.76081	1.0:0.0:0.0:0.0	.	133	Q5VWX1	KHDR2_HUMAN	A	133	ENSP00000281156:V133A	ENSP00000281156:V133A	V	-	2	0	KHDRBS2	62746015	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	9.339000	0.96797	2.078000	0.62432	0.528000	0.53228	GTA		0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
PTP4A1	7803	broad.mit.edu	37	6	64288417	64288417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:64288417G>T	ENST00000370651.3	+	3	1334	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	PTP4A1_ENST00000370650.2_Nonsense_Mutation_p.E61*	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	61					cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.E61*(1)		large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TGTGGAGAAAGAAGGTATCCA	0.303																																					p.E61X	Pancreas(91;1019 1502 28028 38110 51645)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G181T	6						.						85.0	81.0	83.0					6																	64288417		2203	4291	6494	64346376	SO:0001587	stop_gained	7803	exon3			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.181G>T	6.37:g.64288417G>T	ENSP00000359685:p.Glu61*		64346376	NM_003463	B2R6C8|O00648|Q49A54	Nonsense_Mutation	SNP	ENST00000370651.3	37	CCDS4965.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454413	0.96223	.	.	ENSG00000112245	ENST00000370651;ENST00000370650;ENST00000370644	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-34.8605	20.33	0.98713	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000359678:E61X	E	+	1	0	PTP4A1	64346376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.764000	0.85297	2.810000	0.96702	0.585000	0.79938	GAA		0.303	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041083.2		
PHF3	23469	broad.mit.edu	37	6	64401724	64401724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:64401724G>T	ENST00000262043.3	+	5	2627	c.2287G>T	c.(2287-2289)Gaa>Taa	p.E763*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.E763*			Q92576	PHF3_HUMAN	PHD finger protein 3	763					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E763*(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGAAGACAAAGAATATGTCTG	0.413																																					p.E763X	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2287T	6						.						156.0	157.0	156.0					6																	64401724		2203	4300	6503	64459683	SO:0001587	stop_gained	23469	exon4			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2287G>T	6.37:g.64401724G>T	ENSP00000262043:p.Glu763*		64459683	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	38	7.188887	0.98121	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	.	.	.	5.11	5.11	0.69529	.	0.000000	0.40908	D	0.000996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.403	18.8994	0.92435	0.0:0.0:1.0:0.0	.	.	.	.	X	577;675;32;763;716;763	.	ENSP00000262043:E763X	E	+	1	0	PHF3	64459683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.542000	0.82095	2.536000	0.85505	0.585000	0.79938	GAA		0.413	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64421526	64421526	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:64421526C>T	ENST00000262043.3	+	16	4382	c.4042C>T	c.(4042-4044)Cgt>Tgt	p.R1348C	PHF3_ENST00000393387.1_Missense_Mutation_p.R1348C			Q92576	PHF3_HUMAN	PHD finger protein 3	1348					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R1348C(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTTAATTATTCGTCAGAAACT	0.378																																					p.R1348C	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4042T	6						.						83.0	88.0	87.0					6																	64421526		2195	4289	6484	64479485	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4042C>T	6.37:g.64421526C>T	ENSP00000262043:p.Arg1348Cys		64479485	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099894	0.56183	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.51574	0.7;1.98;1.98	5.88	5.88	0.94601	.	0.443356	0.17105	N	0.186848	T	0.35970	0.0950	L	0.41492	1.28	0.80722	D	1	P	0.38677	0.642	B	0.42361	0.385	T	0.09292	-1.0681	10	0.23891	T	0.37	-4.162	20.2884	0.98536	0.0:1.0:0.0:0.0	.	1348	Q92576	PHF3_HUMAN	C	617;1348;1348	ENSP00000425338:R617C;ENSP00000262043:R1348C;ENSP00000377048:R1348C	ENSP00000262043:R1348C	R	+	1	0	PHF3	64479485	1.000000	0.71417	0.994000	0.49952	0.816000	0.46133	4.445000	0.60007	2.791000	0.96007	0.650000	0.86243	CGT		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64422599	64422599	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:64422599G>T	ENST00000262043.3	+	16	5455	c.5115G>T	c.(5113-5115)gaG>gaT	p.E1705D	PHF3_ENST00000393387.1_Missense_Mutation_p.E1705D			Q92576	PHF3_HUMAN	PHD finger protein 3	1705					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E1705D(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTCTGCAGAGAAAAACTCGT	0.418																																					p.E1705D	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5115T	6						.						59.0	59.0	59.0					6																	64422599		2203	4300	6503	64480558	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5115G>T	6.37:g.64422599G>T	ENSP00000262043:p.Glu1705Asp		64480558	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.978025	0.18812	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.22336	1.96;1.96	5.97	3.23	0.37069	.	0.000000	0.40064	N	0.001188	T	0.17195	0.0413	L	0.32530	0.975	0.35870	D	0.828184	D	0.76494	0.999	D	0.78314	0.991	T	0.02877	-1.1099	9	.	.	.	-18.1246	6.5729	0.22549	0.3587:0.0:0.6413:0.0	.	1705	Q92576	PHF3_HUMAN	D	1705	ENSP00000262043:E1705D;ENSP00000377048:E1705D	.	E	+	3	2	PHF3	64480558	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	1.251000	0.32862	1.544000	0.49359	0.655000	0.94253	GAG		0.418	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
EYS	346007	broad.mit.edu	37	6	66205145	66205145	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:66205145G>T	ENST00000370621.3	-	4	685	c.159C>A	c.(157-159)ttC>ttA	p.F53L	EYS_ENST00000393380.2_Missense_Mutation_p.F53L|EYS_ENST00000503581.1_Missense_Mutation_p.F53L|EYS_ENST00000370618.3_Missense_Mutation_p.F53L|EYS_ENST00000342421.5_Missense_Mutation_p.F53L|EYS_ENST00000370616.2_Missense_Mutation_p.F53L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	53					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.F53L(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						AATCTCTGTAGAAGTCCAAGC	0.398																																					p.F53L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C159A	6						.						108.0	107.0	107.0					6																	66205145		2203	4300	6503	66261866	SO:0001583	missense	346007	exon3				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.159C>A	6.37:g.66205145G>T	ENSP00000359655:p.Phe53Leu		66261866	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		.	.	.	.	.	.	.	.	.	.	G	10.21	1.287438	0.23478	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89552	-1.52;-1.51;-1.51;-2.53;-2.48;-2.48	5.13	1.12	0.20585	.	.	.	.	.	T	0.60830	0.2299	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28419	0.211;0.069;0.041	B;B;B	0.26094	0.066;0.035;0.026	T	0.55528	-0.8127	9	0.66056	D	0.02	.	3.8543	0.08968	0.2272:0.0:0.4621:0.3107	.	53;53;53	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	53	ENSP00000424243:F53L;ENSP00000359655:F53L;ENSP00000359650:F53L;ENSP00000377042:F53L;ENSP00000341818:F53L;ENSP00000359652:F53L	ENSP00000341818:F53L	F	-	3	2	EYS	66261866	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	0.067000	0.14510	0.223000	0.20920	0.591000	0.81541	TTC		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	broad.mit.edu	37	6	69666022	69666022	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:69666022C>T	ENST00000370598.1	+	7	2123	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	434	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.G434G(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)				CCCATGGAGGCTCCGAATGCA	0.557																																					p.G434G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1302T	6						.						72.0	65.0	67.0					6																	69666022		2203	4300	6503	69722743	SO:0001819	synonymous_variant	577	exon7			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.1302C>T	6.37:g.69666022C>T			69722743	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.557	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	broad.mit.edu	37	6	70048824	70048824	+	Missense_Mutation	SNP	C	C	A	rs370985736		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:70048824C>A	ENST00000370598.1	+	25	4026	c.3205C>A	c.(3205-3207)Cat>Aat	p.H1069N	BAI3_ENST00000238918.8_Missense_Mutation_p.H275N|BAI3_ENST00000546190.1_Missense_Mutation_p.H33N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1069					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.H1069N(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)				GAGTGAGCCTCATAGCGGTTT	0.408																																					p.H1069N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3205A	6						.						219.0	217.0	217.0					6																	70048824		2203	4300	6503	70105545	SO:0001583	missense	577	exon25			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.3205C>A	6.37:g.70048824C>A	ENSP00000359630:p.His1069Asn		70105545	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521971	0.64747	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.42900	2.11;2.71;0.96	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	N	0.05441	-0.05	0.58432	D	0.999999	D;D;P	0.62365	0.991;0.991;0.925	D;D;D	0.76575	0.988;0.988;0.954	T	0.05131	-1.0904	10	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	275;1069;1069	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	N	1069;275;33	ENSP00000359630:H1069N;ENSP00000238918:H275N;ENSP00000441821:H33N	ENSP00000238918:H275N	H	+	1	0	BAI3	70105545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.037000	0.70956	2.937000	0.99478	0.650000	0.86243	CAT		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	broad.mit.edu	37	6	70092801	70092801	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:70092801C>T	ENST00000370598.1	+	31	5175	c.4354C>T	c.(4354-4356)Cgg>Tgg	p.R1452W	BAI3_ENST00000238918.8_Missense_Mutation_p.R658W|BAI3_ENST00000546190.1_Missense_Mutation_p.R416W	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					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.R1452W(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)				GGACAGATTTCGGGATATACC	0.383																																					p.R1452W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4354T	6						.						94.0	92.0	92.0					6																	70092801		2203	4299	6502	70149522	SO:0001583	missense	577	exon31			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.4354C>T	6.37:g.70092801C>T	ENSP00000359630:p.Arg1452Trp		70149522	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253697	0.80135	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.14266	2.52;2.52;2.52	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.55990	1.75	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.928	T	0.01093	-1.1454	10	0.87932	D	0	.	19.9675	0.97275	0.0:1.0:0.0:0.0	.	658;1452	B7Z356;O60242	.;BAI3_HUMAN	W	1452;658;416	ENSP00000359630:R1452W;ENSP00000238918:R658W;ENSP00000441821:R416W	ENSP00000238918:R658W	R	+	1	2	BAI3	70149522	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.709000	0.92574	0.655000	0.94253	CGG		0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
LMBRD1	55788	broad.mit.edu	37	6	70411350	70411350	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:70411350C>T	ENST00000370577.3	-	11	1297	c.1068G>A	c.(1066-1068)ttG>ttA	p.L356L	LMBRD1_ENST00000370570.1_Silent_p.L283L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	356					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.L356L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GTAGTAAAGGCAAAAGCATAT	0.318																																					p.L356L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1068A	6						.						54.0	55.0	55.0					6																	70411350		2198	4285	6483	70468071	SO:0001819	synonymous_variant	55788	exon11			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1068G>A	6.37:g.70411350C>T			70468071	NM_018368	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	CCDS4969.1																																																																																				0.318	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368	
COL19A1	1310	broad.mit.edu	37	6	70847624	70847624	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:70847624A>G	ENST00000322773.4	+	19	1533	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G	COL19A1_ENST00000393344.1_Silent_p.G99G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	477	Collagen-like 4.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G477G(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCTAAAGGACAAAAAGGAG	0.403																																					p.G477G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1431G	6						.						142.0	142.0	142.0					6																	70847624		2203	4300	6503	70904345	SO:0001819	synonymous_variant	1310	exon19				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1431A>G	6.37:g.70847624A>G			70904345	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	CCDS4970.1																																																																																				0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
FAM135A	57579	broad.mit.edu	37	6	71235542	71235542	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:71235542G>T	ENST00000418814.2	+	15	3369	c.2755G>T	c.(2755-2757)Gac>Tac	p.D919Y	FAM135A_ENST00000370479.3_Missense_Mutation_p.D706Y|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.D706Y|FAM135A_ENST00000361499.3_Missense_Mutation_p.D723Y|FAM135A_ENST00000505868.1_Missense_Mutation_p.D919Y	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	919								p.D706Y(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCATTAAAGACCCTTTACA	0.358																																					p.D919Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2755T	6						.						62.0	66.0	64.0					6																	71235542		2203	4298	6501	71292263	SO:0001583	missense	57579	exon13			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2755G>T	6.37:g.71235542G>T	ENSP00000410768:p.Asp919Tyr		71292263	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546685	0.45383	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.19669	2.15;2.14;2.14;2.13;2.14	5.96	5.96	0.96718	.	0.290992	0.40144	N	0.001163	T	0.36991	0.0987	M	0.64997	1.995	0.47905	D	0.999544	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.959;0.999;0.994	T	0.04333	-1.0959	10	0.66056	D	0.02	.	15.9476	0.79806	0.0:0.0:0.8645:0.1355	.	919;919;723;706	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	Y	919;706;706;723;919	ENSP00000410768:D919Y;ENSP00000359510:D706Y;ENSP00000409201:D706Y;ENSP00000354913:D723Y;ENSP00000423307:D919Y	ENSP00000354913:D723Y	D	+	1	0	FAM135A	71292263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.966000	0.63715	2.826000	0.97356	0.655000	0.94253	GAC		0.358	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
SMAP1	60682	broad.mit.edu	37	6	71464750	71464750	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:71464750G>A	ENST00000370455.3	+	3	568	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	SMAP1_ENST00000370452.3_Missense_Mutation_p.R107Q|SMAP1_ENST00000316999.5_Missense_Mutation_p.R107Q|SMAP1_ENST00000422334.2_Missense_Mutation_p.R107Q	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	107	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R107Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GAGAACTTTCGAAGACCACAG	0.279																																					p.R107Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	6						.						135.0	149.0	144.0					6																	71464750		2202	4295	6497	71521471	SO:0001583	missense	60682	exon3			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.320G>A	6.37:g.71464750G>A	ENSP00000359484:p.Arg107Gln		71521471	NM_001044305	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238049	0.95240	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442;ENST00000422334	T;T;T;T	0.41400	1.01;1.01;1.01;1.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	L	0.33293	1	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;0.992	P;D;D;P	0.80764	0.487;0.994;0.994;0.832	T	0.47045	-0.9147	10	0.56958	D	0.05	-11.0745	18.5994	0.91242	0.0:0.0:1.0:0.0	.	107;107;107;107	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	Q	107;107;107;19;107	ENSP00000359481:R107Q;ENSP00000313382:R107Q;ENSP00000359484:R107Q;ENSP00000398541:R107Q	ENSP00000313382:R107Q	R	+	2	0	SMAP1	71521471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.007000	0.93597	2.695000	0.91970	0.644000	0.83932	CGA		0.279	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305	
OGFRL1	79627	broad.mit.edu	37	6	72011203	72011203	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:72011203G>T	ENST00000370435.4	+	7	941	c.807G>T	c.(805-807)gaG>gaT	p.E269D	RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	269						membrane (GO:0016020)	receptor activity (GO:0004872)	p.E269D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTCTTGTGGAGAATACTATTC	0.358																																					p.E269D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G807T	6						.						87.0	101.0	97.0					6																	72011203		2203	4300	6503	72067924	SO:0001583	missense	79627	exon7				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.807G>T	6.37:g.72011203G>T	ENSP00000359464:p.Glu269Asp		72067924	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360806	0.41801	.	.	ENSG00000119900	ENST00000370435	T	0.46819	0.86	6.04	0.136	0.14780	Opioid growth factor receptor (OGFr) conserved domain (1);	0.290315	0.39615	N	0.001315	T	0.28333	0.0700	N	0.20986	0.625	0.31372	N	0.679996	D	0.69078	0.997	D	0.64042	0.921	T	0.13522	-1.0506	10	0.35671	T	0.21	-23.0941	6.8913	0.24230	0.5768:0.1177:0.3055:0.0	.	269	Q5TC84	OGRL1_HUMAN	D	269	ENSP00000359464:E269D	ENSP00000359464:E269D	E	+	3	2	OGFRL1	72067924	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	0.926000	0.28804	0.150000	0.19136	-0.440000	0.05779	GAG		0.358	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
OGFRL1	79627	broad.mit.edu	37	6	72011393	72011393	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:72011393G>A	ENST00000370435.4	+	7	1131	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	333						membrane (GO:0016020)	receptor activity (GO:0004872)	p.A333T(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTCCCCTCTCGCCTCCAGTCA	0.463																																					p.A333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	6						.						44.0	48.0	47.0					6																	72011393		2203	4300	6503	72068114	SO:0001583	missense	79627	exon7				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.997G>A	6.37:g.72011393G>A	ENSP00000359464:p.Ala333Thr		72068114	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045502	0.19748	.	.	ENSG00000119900	ENST00000370435	T	0.43294	0.95	6.04	-4.03	0.04021	.	1.652800	0.02784	N	0.121203	T	0.04679	0.0127	N	0.03154	-0.405	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.08269	-1.0730	10	0.15066	T	0.55	6.2185	4.8729	0.13642	0.5217:0.0945:0.2874:0.0964	.	333	Q5TC84	OGRL1_HUMAN	T	333	ENSP00000359464:A333T	ENSP00000359464:A333T	A	+	1	0	OGFRL1	72068114	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.212000	0.02994	-1.291000	0.02368	0.563000	0.77884	GCC		0.463	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
OGFRL1	79627	broad.mit.edu	37	6	72011675	72011675	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:72011675G>A	ENST00000370435.4	+	7	1413	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	427						membrane (GO:0016020)	receptor activity (GO:0004872)	p.E427K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGAGAATAACGAAGAAGGTGG	0.378																																					p.E427K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1279A	6						.						95.0	104.0	101.0					6																	72011675		2203	4300	6503	72068396	SO:0001583	missense	79627	exon7				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1279G>A	6.37:g.72011675G>A	ENSP00000359464:p.Glu427Lys		72068396	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224478	0.06061	.	.	ENSG00000119900	ENST00000370435	T	0.46451	0.87	5.5	3.7	0.42460	.	0.400623	0.21222	N	0.078132	T	0.15132	0.0365	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.22601	0.04	T	0.11012	-1.0605	10	0.32370	T	0.25	-3.9537	9.0796	0.36542	0.0817:0.1489:0.7694:0.0	.	427	Q5TC84	OGRL1_HUMAN	K	427	ENSP00000359464:E427K	ENSP00000359464:E427K	E	+	1	0	OGFRL1	72068396	0.997000	0.39634	0.004000	0.12327	0.001000	0.01503	2.881000	0.48538	0.681000	0.31386	-0.302000	0.09304	GAA		0.378	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
RIMS1	22999	broad.mit.edu	37	6	72960629	72960629	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:72960629A>C	ENST00000521978.1	+	14	2378	c.2378A>C	c.(2377-2379)aAa>aCa	p.K793T	RIMS1_ENST00000523963.1_Missense_Mutation_p.K267T|RIMS1_ENST00000520567.1_Missense_Mutation_p.K793T|RIMS1_ENST00000401910.3_Missense_Mutation_p.K267T|RIMS1_ENST00000425662.2_Missense_Mutation_p.K186T|RIMS1_ENST00000522291.1_Missense_Mutation_p.K793T|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Missense_Mutation_p.K793T|RIMS1_ENST00000264839.7_Missense_Mutation_p.K793T|RIMS1_ENST00000517960.1_Missense_Mutation_p.K793T|RIMS1_ENST00000517827.1_Missense_Mutation_p.K252T|RIMS1_ENST00000518273.1_Missense_Mutation_p.K793T|RIMS1_ENST00000491071.2_Missense_Mutation_p.K793T	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	793	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.K793T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCAGTGATAAAAGTAAAAGG	0.294																																					p.K186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557C	6						.						48.0	45.0	46.0					6																	72960629		1763	3987	5750	73017350	SO:0001583	missense	22999	exon9			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2378A>C	6.37:g.72960629A>C	ENSP00000428417:p.Lys793Thr		73017350	NM_001168409	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.952979|3.952979	0.73902|0.73902	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.77358|.	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09|.	5.79|5.79	5.79|5.79	0.91817|0.91817	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.079753|.	0.52532|.	D|.	0.000070|.	T|.	0.62889|.	0.2465|.	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	B;P;P;D;P;P;D;D;P;P;P;D|.	0.71674|.	0.265;0.685;0.654;0.991;0.889;0.931;0.998;0.994;0.938;0.608;0.6;0.998|.	P;P;P;D;D;D;D;D;D;P;P;D|.	0.91635|.	0.695;0.74;0.623;0.978;0.97;0.945;0.999;0.973;0.973;0.906;0.52;0.999|.	T|.	0.62671|.	-0.6805|.	10|.	0.87932|.	D|.	0|.	-16.1102|-16.1102	16.1056|16.1056	0.81220|0.81220	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	252;267;793;252;267;793;46;793;793;46;793;793|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	T|Y	793;793;793;793;793;793;793;793;793;793;793;793;267;267;186;186;252;18|366	ENSP00000430101:K793T;ENSP00000275037:K793T;ENSP00000264839:K793T;ENSP00000429959:K793T;ENSP00000430408:K793T;ENSP00000430502:K793T;ENSP00000430932:K793T;ENSP00000428417:K793T;ENSP00000385649:K267T;ENSP00000428328:K267T;ENSP00000411235:K186T;ENSP00000389503:K186T;ENSP00000428367:K252T;ENSP00000359448:K18T|.	ENSP00000264839:K793T|.	K|X	+|+	2|3	0|2	RIMS1|RIMS1	73017350|73017350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.536000|7.536000	0.82023|0.82023	2.207000|2.207000	0.71202|0.71202	0.477000|0.477000	0.44152|0.44152	AAA|TAA		0.294	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
MB21D1	115004	broad.mit.edu	37	6	74135015	74135015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:74135015C>A	ENST00000370315.3	-	5	1598	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	502					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.E502*(1)		central_nervous_system(1)|large_intestine(4)|lung(1)	6						GTCAGAAATTCCTTACTTCTT	0.299																																					p.E502X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1504T	6						.						40.0	41.0	40.0					6																	74135015		2203	4300	6503	74191736	SO:0001587	stop_gained	115004	exon5			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1504G>T	6.37:g.74135015C>A	ENSP00000359339:p.Glu502*		74191736	NM_138441	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Nonsense_Mutation	SNP	ENST00000370315.3	37	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085170	0.55861	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	.	.	.	5.8	3.97	0.46021	.	0.971053	0.08458	N	0.942775	.	.	.	.	.	.	0.50039	D	0.999849	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.5136	3.8313	0.08876	0.1349:0.5909:0.1305:0.1437	.	.	.	.	X	502;485	.	ENSP00000296913:E485X	E	-	1	0	MB21D1	74191736	0.004000	0.15560	0.699000	0.30290	0.296000	0.27459	0.017000	0.13399	1.466000	0.48025	0.650000	0.86243	GAA		0.299	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441	
SLC17A5	26503	broad.mit.edu	37	6	74325059	74325059	+	Missense_Mutation	SNP	G	G	A	rs150686745		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:74325059G>A	ENST00000355773.5	-	8	1358	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	364					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.R364C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATTCTGCGAACACATAAA	0.343																																					p.R364C												.	.	3	Substitution - Missense(3)	skin(2)|large_intestine(1)	c.C1090T	6						.						95.0	90.0	92.0					6																	74325059		2203	4300	6503	74381780	SO:0001583	missense	26503	exon8			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1090C>T	6.37:g.74325059G>A	ENSP00000348019:p.Arg364Cys		74381780	NM_012434	Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698436	0.68386	.	.	ENSG00000119899	ENST00000355773	T	0.66638	-0.22	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90051	0.4149	10	0.87932	D	0	.	12.9623	0.58466	0.0:0.0:0.8381:0.1619	.	426;364	E1P537;Q9NRA2	.;S17A5_HUMAN	C	364	ENSP00000348019:R364C	ENSP00000348019:R364C	R	-	1	0	SLC17A5	74381780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.386000	0.59620	2.221000	0.72209	0.561000	0.74099	CGC		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1		
CD109	135228	broad.mit.edu	37	6	74521964	74521964	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:74521964G>A	ENST00000287097.5	+	29	3851	c.3739G>A	c.(3739-3741)Gca>Aca	p.A1247T	CD109_ENST00000437994.2_Missense_Mutation_p.A1230T|CD109_ENST00000422508.2_Missense_Mutation_p.A1170T			Q6YHK3	CD109_HUMAN	CD109 molecule	1247					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.A1247P(1)|p.A1247T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAATATTTCCGCAAATGGTTT	0.333																																					p.A1247T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3739A	6						.						155.0	145.0	149.0					6																	74521964		2203	4300	6503	74578685	SO:0001583	missense	135228	exon29			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3739G>A	6.37:g.74521964G>A	ENSP00000287097:p.Ala1247Thr		74578685	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700429	0.48307	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.31247	1.64;1.73;1.5	5.25	5.25	0.73442	.	0.110181	0.64402	D	0.000009	T	0.23926	0.0579	M	0.63169	1.94	0.52501	D	0.999957	B;P;B	0.37594	0.428;0.601;0.133	B;B;B	0.35278	0.087;0.199;0.052	T	0.06373	-1.0830	10	0.48119	T	0.1	.	19.0112	0.92874	0.0:0.0:1.0:0.0	.	1170;1230;1247	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	T	1230;1170;1247	ENSP00000388062:A1230T;ENSP00000404475:A1170T;ENSP00000287097:A1247T	ENSP00000287097:A1247T	A	+	1	0	CD109	74578685	1.000000	0.71417	0.895000	0.35142	0.479000	0.33129	4.895000	0.63214	2.727000	0.93392	0.563000	0.77884	GCA		0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
CD109	135228	broad.mit.edu	37	6	74528222	74528222	+	Silent	SNP	A	A	G	rs563120651		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:74528222A>G	ENST00000287097.5	+	31	4135	c.4023A>G	c.(4021-4023)gaA>gaG	p.E1341E	CD109_ENST00000437994.2_Silent_p.E1324E|CD109_ENST00000422508.2_Silent_p.E1264E			Q6YHK3	CD109_HUMAN	CD109 molecule	1341					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.E1341E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGTGGAATATGATCATG	0.398													A|||	1	0.000199681	0.0	0.0	5008	,	,		17098	0.0		0.001	False		,,,				2504	0.0				p.E1341E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4023G	6						.						98.0	100.0	99.0					6																	74528222		2203	4300	6503	74584943	SO:0001819	synonymous_variant	135228	exon31			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.4023A>G	6.37:g.74528222A>G			74584943	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	CCDS4982.1																																																																																				0.398	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	broad.mit.edu	37	6	75818809	75818809	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75818809C>A	ENST00000322507.8	-	52	8334	c.8025G>T	c.(8023-8025)aaG>aaT	p.K2675N	COL12A1_ENST00000483888.2_Missense_Mutation_p.K2675N|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1511N|COL12A1_ENST00000416123.2_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2675	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K2675N(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCAGCTTCCTTGATGTCTT	0.313																																					p.K2675N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8025T	6						.						94.0	91.0	92.0					6																	75818809		1801	4068	5869	75875529	SO:0001583	missense	1303	exon52			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8025G>T	6.37:g.75818809C>A	ENSP00000325146:p.Lys2675Asn		75875529	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533170	0.27387	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000345356;ENST00000483888	T;T;T;T	0.02085	4.46;4.46;4.46;4.46	5.75	1.86	0.25419	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.095146	0.64402	D	0.000002	T	0.00637	0.0021	L	0.35644	1.08	0.37331	D	0.909965	B;B	0.28026	0.198;0.125	B;B	0.27608	0.081;0.037	T	0.52689	-0.8542	10	0.16896	T	0.51	.	4.594	0.12320	0.1397:0.4671:0.0:0.3931	.	1511;2675	Q99715-2;Q99715	.;COCA1_HUMAN	N	2675;313;1511;2675	ENSP00000325146:K2675N;ENSP00000399812:K313N;ENSP00000305147:K1511N;ENSP00000421216:K2675N	ENSP00000325146:K2675N	K	-	3	2	COL12A1	75875529	0.908000	0.30866	0.997000	0.53966	0.984000	0.73092	-0.000000	0.12993	0.047000	0.15862	0.650000	0.86243	AAG		0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75834909	75834909	+	Missense_Mutation	SNP	C	C	T	rs368397177		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75834909C>T	ENST00000322507.8	-	40	6850	c.6541G>A	c.(6541-6543)Gat>Aat	p.D2181N	COL12A1_ENST00000483888.2_Missense_Mutation_p.D2181N|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1017N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2181N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2181	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D2181N(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACATTCACATCGTAGGTGGTG	0.403																																					p.D2181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6541A	6						.	C	ASN/ASP,ASN/ASP	0,3840		0,0,1920	131.0	129.0	130.0		6541,3049	5.4	1.0	6		130	1,8277		0,1,4138	no	missense,missense	COL12A1	NM_004370.5,NM_080645.2	23,23	0,1,6058	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	2181/3064,1017/1900	75834909	1,12117	1920	4139	6059	75891629	SO:0001583	missense	1303	exon40			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6541G>A	6.37:g.75834909C>T	ENSP00000325146:p.Asp2181Asn		75891629	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358107	0.95854	0.0	1.21E-4	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.17408	0.0418	N	0.15975	0.35	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	T	0.16247	-1.0409	10	0.26408	T	0.33	.	19.5792	0.95459	0.0:1.0:0.0:0.0	.	1017;2181	Q99715-2;Q99715	.;COCA1_HUMAN	N	2181;2181;1017;2181;2181	ENSP00000325146:D2181N;ENSP00000305147:D1017N;ENSP00000412864:D2181N;ENSP00000421216:D2181N	ENSP00000325146:D2181N	D	-	1	0	COL12A1	75891629	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.445000	0.80570	2.718000	0.92993	0.591000	0.81541	GAT		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75862100	75862100	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75862100T>G	ENST00000322507.8	-	18	3973	c.3664A>C	c.(3664-3666)Att>Ctt	p.I1222L	COL12A1_ENST00000483888.2_Missense_Mutation_p.I1222L|COL12A1_ENST00000345356.6_Missense_Mutation_p.I58L|COL12A1_ENST00000416123.2_Missense_Mutation_p.I1222L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1222	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.I1222L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATACGAGAAATGAAACTCCTC	0.448																																					p.I1222L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3664C	6						.						66.0	64.0	65.0					6																	75862100		1918	4129	6047	75918820	SO:0001583	missense	1303	exon18			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3664A>C	6.37:g.75862100T>G	ENSP00000325146:p.Ile1222Leu		75918820	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150263	0.57151	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.74	5.74	0.90152	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.54743	0.1877	N	0.03983	-0.305	0.52099	D	0.99994	B;B	0.10296	0.001;0.003	B;B	0.21546	0.002;0.035	T	0.56282	-0.8005	10	0.36615	T	0.2	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	58;1222	Q99715-2;Q99715	.;COCA1_HUMAN	L	1222;1222;58;1222;1222	ENSP00000325146:I1222L;ENSP00000305147:I58L;ENSP00000412864:I1222L;ENSP00000421216:I1222L	ENSP00000325146:I1222L	I	-	1	0	COL12A1	75918820	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.895000	0.69814	2.197000	0.70478	0.528000	0.53228	ATT		0.448	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75866076	75866076	+	Silent	SNP	C	C	T	rs369168979		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75866076C>T	ENST00000322507.8	-	15	3456	c.3147G>A	c.(3145-3147)tcG>tcA	p.S1049S	COL12A1_ENST00000483888.2_Silent_p.S1049S|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.S1049S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1049	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S1049S(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTAACACTGTCGAAGTGACTG	0.493																																					p.S1049S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3147A	6						.						199.0	185.0	189.0					6																	75866076		1960	4148	6108	75922796	SO:0001819	synonymous_variant	1303	exon15			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3147G>A	6.37:g.75866076C>T			75922796	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.493	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75875478	75875478	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75875478C>A	ENST00000322507.8	-	14	3037	c.2728G>T	c.(2728-2730)Gat>Tat	p.D910Y	COL12A1_ENST00000483888.2_Missense_Mutation_p.D910Y|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.D910Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	910	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.D910Y(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTAACTAAATCTTGAGGAGAA	0.363																																					p.D910Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2728T	6						.						82.0	74.0	76.0					6																	75875478		1830	4097	5927	75932198	SO:0001583	missense	1303	exon14			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2728G>T	6.37:g.75875478C>A	ENSP00000325146:p.Asp910Tyr		75932198	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340546	0.24339	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.58797	0.31;0.31;0.31	5.3	1.47	0.22746	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200461	0.33916	N	0.004422	T	0.53318	0.1789	M	0.73962	2.25	0.22468	N	0.999076	P	0.46912	0.886	P	0.59487	0.858	T	0.51309	-0.8722	10	0.72032	D	0.01	.	5.7142	0.17950	0.0:0.4879:0.1312:0.3809	.	910	Q99715	COCA1_HUMAN	Y	910	ENSP00000325146:D910Y;ENSP00000412864:D910Y;ENSP00000421216:D910Y	ENSP00000325146:D910Y	D	-	1	0	COL12A1	75932198	0.003000	0.15002	0.097000	0.21041	0.459000	0.32528	0.049000	0.14099	-0.020000	0.14032	0.563000	0.77884	GAT		0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75887466	75887466	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:75887466G>T	ENST00000322507.8	-	12	2659	c.2350C>A	c.(2350-2352)Cca>Aca	p.P784T	COL12A1_ENST00000483888.2_Missense_Mutation_p.P784T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P784T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	784	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P784T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCGTGTCTGGAATCAAGTTC	0.413																																					p.P784T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2350A	6						.						291.0	283.0	285.0					6																	75887466		1872	4105	5977	75944186	SO:0001583	missense	1303	exon12			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2350C>A	6.37:g.75887466G>T	ENSP00000325146:p.Pro784Thr		75944186	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208300	0.79240	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.68479	-0.33;-0.33;-0.33	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.81959	0.4933	M	0.93978	3.48	0.51012	D	0.9999	P;P	0.52170	0.951;0.907	P;P	0.54460	0.753;0.735	D	0.86301	0.1680	10	0.87932	D	0	.	19.8863	0.96913	0.0:0.0:1.0:0.0	.	784;784	D6RGG3;Q99715	.;COCA1_HUMAN	T	784	ENSP00000325146:P784T;ENSP00000412864:P784T;ENSP00000421216:P784T	ENSP00000325146:P784T	P	-	1	0	COL12A1	75944186	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.367000	0.79558	2.688000	0.91661	0.650000	0.86243	CCA		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
FILIP1	27145	broad.mit.edu	37	6	76023073	76023073	+	Silent	SNP	C	C	T	rs267601126		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76023073C>T	ENST00000237172.7	-	5	2805	c.2475G>A	c.(2473-2475)cgG>cgA	p.R825R	FILIP1_ENST00000393004.2_Silent_p.R825R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.R726R	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	825								p.R825R(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGAAGGATTTCCGTATGAATA	0.463																																					p.R825R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2475A	6						.						149.0	162.0	158.0					6																	76023073		2203	4300	6503	76079793	SO:0001819	synonymous_variant	27145	exon5			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2475G>A	6.37:g.76023073C>T			76079793	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	CCDS4984.1																																																																																				0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
FILIP1	27145	broad.mit.edu	37	6	76023382	76023382	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76023382G>A	ENST00000237172.7	-	5	2496	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	FILIP1_ENST00000393004.2_Silent_p.A722A|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.A623A	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	722								p.A722A(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTGTACTTCGGCTTTTAAGT	0.393																																					p.A722A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2166T	6						.						124.0	131.0	129.0					6																	76023382		2203	4300	6503	76080102	SO:0001819	synonymous_variant	27145	exon5			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2166C>T	6.37:g.76023382G>A			76080102	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	CCDS4984.1																																																																																				0.393	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
SENP6	26054	broad.mit.edu	37	6	76376478	76376478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76376478G>T	ENST00000447266.2	+	10	1523	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	SENP6_ENST00000370014.3_Nonsense_Mutation_p.E349*|SENP6_ENST00000327284.8_Nonsense_Mutation_p.E342*|SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000370010.2_Nonsense_Mutation_p.E342*	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	349					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.E349*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAACAGAAGAGAAAGCATATC	0.348																																					p.E349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1045T	6						.						93.0	91.0	91.0					6																	76376478		1926	4163	6089	76433198	SO:0001587	stop_gained	26054	exon10				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1045G>T	6.37:g.76376478G>T	ENSP00000402527:p.Glu349*		76433198	NM_015571	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Nonsense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923825	0.73213	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947	.	.	.	5.32	5.32	0.75619	.	0.134612	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-7.1971	19.3602	0.94434	0.0:0.0:1.0:0.0	.	.	.	.	X	342;349;198;342;349;239	.	ENSP00000321820:E342X	E	+	1	0	SENP6	76433198	1.000000	0.71417	0.998000	0.56505	0.026000	0.11368	5.690000	0.68241	2.656000	0.90262	0.650000	0.86243	GAA		0.348	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
MYO6	4646	broad.mit.edu	37	6	76538325	76538325	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76538325A>C	ENST00000369977.3	+	4	395	c.256A>C	c.(256-258)Att>Ctt	p.I86L	MYO6_ENST00000369975.1_Missense_Mutation_p.I86L|MYO6_ENST00000369985.4_Missense_Mutation_p.I86L|MYO6_ENST00000369981.3_Missense_Mutation_p.I86L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	86	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.I86L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAAAGACAGAATTTATGTAAG	0.289																																					p.I86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A256C	6						.						85.0	93.0	91.0					6																	76538325		2203	4298	6501	76595045	SO:0001583	missense	4646	exon4			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.256A>C	6.37:g.76538325A>C	ENSP00000358994:p.Ile86Leu		76595045	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.953154	0.92660	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	H	0.94847	3.59	0.80722	D	1	D;B	0.64830	0.994;0.429	D;P	0.87578	0.998;0.855	D	0.92904	0.6342	10	0.87932	D	0	.	15.6234	0.76829	1.0:0.0:0.0:0.0	.	86;86	Q9UM54-2;Q9UM54-1	.;.	L	86	ENSP00000358998:I86L;ENSP00000359002:I86L;ENSP00000358994:I86L;ENSP00000358992:I86L	ENSP00000358992:I86L	I	+	1	0	MYO6	76595045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.700000	0.91322	2.097000	0.63578	0.460000	0.39030	ATT		0.289	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
MYO6	4646	broad.mit.edu	37	6	76540162	76540162	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76540162G>T	ENST00000369977.3	+	5	430	c.291G>T	c.(289-291)gtG>gtT	p.V97V	MYO6_ENST00000369975.1_Silent_p.V97V|MYO6_ENST00000369985.4_Silent_p.V97V|MYO6_ENST00000369981.3_Silent_p.V97V	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	97	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.V97V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGATTGCAGTGAATCCATACT	0.313																																					p.V97V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291T	6						.						106.0	108.0	107.0					6																	76540162		2203	4299	6502	76596882	SO:0001819	synonymous_variant	4646	exon5			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.291G>T	6.37:g.76540162G>T			76596882	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	CCDS34487.1																																																																																				0.313	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
MYO6	4646	broad.mit.edu	37	6	76542652	76542652	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76542652A>C	ENST00000369977.3	+	6	624	c.485A>C	c.(484-486)aAa>aCa	p.K162T	MYO6_ENST00000369975.1_Missense_Mutation_p.K162T|MYO6_ENST00000369985.4_Missense_Mutation_p.K162T|MYO6_ENST00000369981.3_Missense_Mutation_p.K162T	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	162	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K162T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAAATACAAAATTTGTTCTA	0.413																																					p.K162T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A485C	6						.						74.0	79.0	78.0					6																	76542652		2203	4300	6503	76599372	SO:0001583	missense	4646	exon6			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.485A>C	6.37:g.76542652A>C	ENSP00000358994:p.Lys162Thr		76599372	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507097	0.85282	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98847	1.0757	10	0.87932	D	0	.	15.8146	0.78589	1.0:0.0:0.0:0.0	.	162;162	Q9UM54-2;Q9UM54-1	.;.	T	162	ENSP00000358998:K162T;ENSP00000359002:K162T;ENSP00000358994:K162T;ENSP00000358992:K162T	ENSP00000358992:K162T	K	+	2	0	MYO6	76599372	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.932000	0.92897	2.193000	0.70182	0.528000	0.53228	AAA		0.413	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
MYO6	4646	broad.mit.edu	37	6	76589596	76589596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76589596G>T	ENST00000369977.3	+	21	2276	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	MYO6_ENST00000369985.4_Nonsense_Mutation_p.E713*|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Nonsense_Mutation_p.E713*|MYO6_ENST00000369975.1_Nonsense_Mutation_p.E713*	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	713	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.E713*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCATTTCATGAACTCTACAA	0.388																																					p.E713X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2137T	6						.						161.0	149.0	153.0					6																	76589596		2203	4300	6503	76646316	SO:0001587	stop_gained	4646	exon21			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2137G>T	6.37:g.76589596G>T	ENSP00000358994:p.Glu713*		76646316	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Nonsense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	40	8.458401	0.98820	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2649	0.93982	0.0:0.0:1.0:0.0	.	.	.	.	X	713	.	ENSP00000358992:E713X	E	+	1	0	MYO6	76646316	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.392000	0.97252	2.632000	0.89209	0.655000	0.94253	GAA		0.388	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
IMPG1	3617	broad.mit.edu	37	6	76660319	76660319	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:76660319G>T	ENST00000369950.3	-	13	1973	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S595Y(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTACTCCAGAGAGCTCTTGTT	0.483																																					p.S595Y	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1784A	6						.						46.0	41.0	43.0					6																	76660319		2203	4300	6503	76717039	SO:0001583	missense	3617	exon13			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1784C>A	6.37:g.76660319G>T	ENSP00000358966:p.Ser595Tyr		76717039	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017421	0.93404	.	.	ENSG00000112706	ENST00000369950	T	0.63417	-0.04	5.87	5.87	0.94306	SEA (2);	0.000000	0.64402	D	0.000010	T	0.78547	0.4300	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79657	-0.1712	10	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	595	Q17R60	IMPG1_HUMAN	Y	595	ENSP00000358966:S595Y	ENSP00000358966:S595Y	S	-	2	0	IMPG1	76717039	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	9.476000	0.97823	2.770000	0.95276	0.650000	0.86243	TCT		0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
HTR1B	3351	broad.mit.edu	37	6	78172346	78172346	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:78172346C>T	ENST00000369947.2	-	1	1144	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	259					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D259N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCGGGGGAGTCGGTTATCAGC	0.597																																					p.D259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	6						.						68.0	79.0	75.0					6																	78172346		2203	4300	6503	78229065	SO:0001583	missense	3351	exon1			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.775G>A	6.37:g.78172346C>T	ENSP00000358963:p.Asp259Asn		78229065	NM_000863	Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	C	8.378	0.836844	0.16891	.	.	ENSG00000135312	ENST00000369947	T	0.62498	0.02	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.114032	0.64402	D	0.000019	T	0.21761	0.0524	N	0.02192	-0.645	0.48395	D	0.999644	B	0.22346	0.068	B	0.22753	0.041	T	0.17715	-1.0360	9	.	.	.	.	17.7254	0.88364	0.0:1.0:0.0:0.0	.	259	P28222	5HT1B_HUMAN	N	259	ENSP00000358963:D259N	.	D	-	1	0	HTR1B	78229065	0.989000	0.36119	0.965000	0.40720	0.418000	0.31294	2.743000	0.47442	2.661000	0.90470	0.555000	0.69702	GAC		0.597	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863	
PHIP	55023	broad.mit.edu	37	6	79655764	79655764	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:79655764C>A	ENST00000275034.4	-	38	4751	c.4584G>T	c.(4582-4584)aaG>aaT	p.K1528N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1528					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.K1528N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATAAAAGTCTTTGCAGCTG	0.368																																					p.K1528N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4584T	6						.						111.0	104.0	107.0					6																	79655764		2203	4300	6503	79712483	SO:0001583	missense	55023	exon38			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4584G>T	6.37:g.79655764C>A	ENSP00000275034:p.Lys1528Asn		79712483	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381842	0.42207	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.41758	0.99	6.17	2.4	0.29515	.	0.144593	0.49305	D	0.000141	T	0.31765	0.0807	L	0.27053	0.805	0.45161	D	0.998172	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.06917	-1.0800	9	.	.	.	-18.2043	9.004	0.36100	0.0:0.6459:0.0:0.3541	.	1528;1528	A7J992;Q8WWQ0	.;PHIP_HUMAN	N	1528;254	ENSP00000275034:K1528N	.	K	-	3	2	PHIP	79712483	0.997000	0.39634	0.991000	0.47740	0.747000	0.42532	0.236000	0.17967	0.470000	0.27294	-0.137000	0.14449	AAG		0.368	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79680570	79680570	+	Silent	SNP	G	G	A	rs140757402		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:79680570G>A	ENST00000275034.4	-	25	3092	c.2925C>T	c.(2923-2925)gtC>gtT	p.V975V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	975	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.V975V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GGGCCATTTCGACATAGGCTT	0.328																																					p.V975V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2925T	6						.						91.0	87.0	88.0					6																	79680570		2202	4299	6501	79737289	SO:0001819	synonymous_variant	55023	exon25			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2925C>T	6.37:g.79680570G>A			79737289	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79728820	79728820	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:79728820G>T	ENST00000275034.4	-	10	1147	c.980C>A	c.(979-981)tCt>tAt	p.S327Y		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	327					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.S327Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACTAAAAGAAGAACAGATCAT	0.343																																					p.S327Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C980A	6						.						127.0	142.0	137.0					6																	79728820		2203	4300	6503	79785539	SO:0001583	missense	55023	exon10			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.980C>A	6.37:g.79728820G>T	ENSP00000275034:p.Ser327Tyr		79785539	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274930	0.59649	.	.	ENSG00000146247	ENST00000275034	T	0.16897	2.31	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.078821	0.53938	D	0.000045	T	0.28632	0.0709	M	0.80183	2.485	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.54664	0.758;0.758	T	0.07347	-1.0777	9	.	.	.	-13.9372	17.2352	0.86997	0.0:0.0:1.0:0.0	.	327;327	A7J992;Q8WWQ0	.;PHIP_HUMAN	Y	327	ENSP00000275034:S327Y	.	S	-	2	0	PHIP	79785539	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.690000	0.98676	2.370000	0.80446	0.557000	0.71058	TCT		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
LCA5	167691	broad.mit.edu	37	6	80223217	80223217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:80223217C>A	ENST00000392959.1	-	4	1043	c.432G>T	c.(430-432)gaG>gaT	p.E144D	LCA5_ENST00000467898.3_Missense_Mutation_p.E144D|LCA5_ENST00000369846.4_Missense_Mutation_p.E144D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	144					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E144D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCAGGGCTTTCTCCTGTCTGT	0.353																																					p.E144D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G432T	6						.						94.0	89.0	91.0					6																	80223217		2203	4299	6502	80279936	SO:0001583	missense	167691	exon4				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.432G>T	6.37:g.80223217C>A	ENSP00000376686:p.Glu144Asp		80279936	NM_181714	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274881	0.80580	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.78707	-1.2;-1.2	6.07	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.80732	0.4679	L	0.45581	1.43	0.45046	D	0.998067	P;D	0.89917	0.923;1.0	P;D	0.91635	0.752;0.999	D	0.84100	0.0395	10	0.87932	D	0	-16.3685	14.5253	0.67884	0.0:0.9303:0.0:0.0697	.	144;144	B4DRL2;Q86VQ0	.;LCA5_HUMAN	D	144	ENSP00000358861:E144D;ENSP00000376686:E144D	ENSP00000358861:E144D	E	-	3	2	LCA5	80279936	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.143000	0.42187	1.586000	0.49944	0.655000	0.94253	GAG		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
TTK	7272	broad.mit.edu	37	6	80717691	80717691	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:80717691A>C	ENST00000369798.2	+	3	416	c.305A>C	c.(304-306)aAa>aCa	p.K102T	TTK_ENST00000230510.3_Missense_Mutation_p.K102T|TTK_ENST00000509894.1_Missense_Mutation_p.K102T	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	102					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K86T(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CCCCCAGATAAATATGGCCAA	0.338																																					p.K102T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A305C	6						.						60.0	62.0	62.0					6																	80717691		2202	4300	6502	80774410	SO:0001583	missense	7272	exon3				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.305A>C	6.37:g.80717691A>C	ENSP00000358813:p.Lys102Thr		80774410	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579681	0.86645	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.66	5.66	0.87406	.	0.041197	0.85682	D	0.000000	D	0.92312	0.7561	M	0.63843	1.955	0.45554	D	0.998505	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93357	0.6723	10	0.87932	D	0	.	15.3831	0.74676	1.0:0.0:0.0:0.0	.	102;102	P33981;A8K8U5	TTK_HUMAN;.	T	102	ENSP00000422936:K102T;ENSP00000230510:K102T;ENSP00000358813:K102T;ENSP00000424851:K102T;ENSP00000421636:K102T;ENSP00000427483:K102T	ENSP00000230510:K102T	K	+	2	0	TTK	80774410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.127000	0.71642	2.285000	0.76669	0.533000	0.62120	AAA		0.338	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TTK	7272	broad.mit.edu	37	6	80718160	80718160	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:80718160G>T	ENST00000369798.2	+	4	531	c.420G>T	c.(418-420)aaG>aaT	p.K140N	TTK_ENST00000230510.3_Missense_Mutation_p.K140N|TTK_ENST00000509894.1_Missense_Mutation_p.K140N	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	140					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K124N(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAACTGCAAGAAATTTGCTT	0.299																																					p.K140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G420T	6						.						79.0	72.0	74.0					6																	80718160		2203	4299	6502	80774879	SO:0001583	missense	7272	exon4				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.420G>T	6.37:g.80718160G>T	ENSP00000358813:p.Lys140Asn		80774879	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471785	0.84533	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000511260;ENST00000504040	T;T;T;D;T	0.90197	1.36;1.36;1.36;-2.63;1.36	6.01	6.01	0.97437	Tetratricopeptide-like helical (1);	0.096695	0.64402	D	0.000001	D	0.92835	0.7721	M	0.63843	1.955	0.46823	D	0.999215	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.947	D	0.93166	0.6562	10	0.87932	D	0	.	12.7696	0.57412	0.074:0.0:0.926:0.0	.	140;140	P33981;A8K8U5	TTK_HUMAN;.	N	140	ENSP00000422936:K140N;ENSP00000230510:K140N;ENSP00000358813:K140N;ENSP00000421636:K140N;ENSP00000427483:K140N	ENSP00000230510:K140N	K	+	3	2	TTK	80774879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.759000	0.55227	2.861000	0.98227	0.650000	0.86243	AAG		0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TTK	7272	broad.mit.edu	37	6	80737719	80737719	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:80737719A>C	ENST00000369798.2	+	13	1623	c.1512A>C	c.(1510-1512)caA>caC	p.Q504H	TTK_ENST00000230510.3_Missense_Mutation_p.Q503H|TTK_ENST00000509894.1_Missense_Mutation_p.Q503H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	504					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.Q488H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CTCCACTTCAAAATTTACAGG	0.373																																					p.Q503H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1509C	6						.						89.0	84.0	86.0					6																	80737719		2203	4300	6503	80794438	SO:0001583	missense	7272	exon13				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1512A>C	6.37:g.80737719A>C	ENSP00000358813:p.Gln504His		80794438	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432205	0.25813	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69561	-0.41;-0.41;-0.4	5.99	-9.55	0.00569	.	0.307454	0.36338	N	0.002660	T	0.57710	0.2072	M	0.62723	1.935	0.22719	N	0.998814	D;D	0.54397	0.966;0.966	P;P	0.55785	0.525;0.784	T	0.74156	-0.3756	10	0.48119	T	0.1	.	19.6097	0.95600	0.3018:0.0:0.6982:0.0	.	504;503	P33981;A8K8U5	TTK_HUMAN;.	H	503;503;504	ENSP00000422936:Q503H;ENSP00000230510:Q503H;ENSP00000358813:Q504H	ENSP00000230510:Q503H	Q	+	3	2	TTK	80794438	0.003000	0.15002	0.002000	0.10522	0.005000	0.04900	-0.985000	0.03751	-1.964000	0.01012	-0.899000	0.02877	CAA		0.373	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TTK	7272	broad.mit.edu	37	6	80744798	80744798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:80744798G>A	ENST00000369798.2	+	15	1822	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TTK_ENST00000230510.3_Missense_Mutation_p.E570K|TTK_ENST00000509894.1_Missense_Mutation_p.E570K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E555K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTACCGGAACGAAATAGCTTA	0.284																																					p.E570K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1708A	6						.						76.0	82.0	80.0					6																	80744798		2200	4288	6488	80801517	SO:0001583	missense	7272	exon15				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1711G>A	6.37:g.80744798G>A	ENSP00000358813:p.Glu571Lys		80801517	NM_001166691	A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241982	0.95272	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.84873	-1.91;-1.91;-1.91	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91278	0.5049	10	0.87932	D	0	.	18.7461	0.91794	0.0:0.0:1.0:0.0	.	571;570	P33981;A8K8U5	TTK_HUMAN;.	K	570;570;571	ENSP00000422936:E570K;ENSP00000230510:E570K;ENSP00000358813:E571K	ENSP00000230510:E570K	E	+	1	0	TTK	80801517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.677000	0.91161	0.557000	0.71058	GAA		0.284	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
IBTK	25998	broad.mit.edu	37	6	82927752	82927752	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:82927752G>T	ENST00000306270.7	-	10	1900	c.1351C>A	c.(1351-1353)Cta>Ata	p.L451I	IBTK_ENST00000510291.1_Missense_Mutation_p.L451I|IBTK_ENST00000503631.1_Missense_Mutation_p.L451I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	451					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.L451I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GTAACAAATAGAATTTCATTT	0.378																																					p.L451I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1351A	6						.						93.0	91.0	91.0					6																	82927752		2203	4300	6503	82984471	SO:0001583	missense	25998	exon10			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1351C>A	6.37:g.82927752G>T	ENSP00000305721:p.Leu451Ile		82984471	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856756	0.32791	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.31510	1.79;1.49;1.8	5.5	1.3	0.21679	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.157992	0.49916	D	0.000124	T	0.07188	0.0182	L	0.47716	1.5	0.32266	N	0.569556	P;P;P;P	0.44986	0.518;0.847;0.798;0.847	B;B;B;B	0.42343	0.079;0.254;0.384;0.254	T	0.21655	-1.0239	10	0.02654	T	1	-3.8747	4.9501	0.14009	0.3061:0.0:0.4909:0.203	.	451;451;451;451	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	451	ENSP00000305721:L451I;ENSP00000422762:L451I;ENSP00000426405:L451I	ENSP00000305721:L451I	L	-	1	2	IBTK	82984471	1.000000	0.71417	0.777000	0.31699	0.319000	0.28217	2.352000	0.44080	0.170000	0.19704	0.462000	0.41574	CTA		0.378	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
DOPEY1	23033	broad.mit.edu	37	6	83818631	83818631	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:83818631C>T	ENST00000349129.2	+	5	583	c.323C>T	c.(322-324)tCt>tTt	p.S108F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S108F|DOPEY1_ENST00000536812.1_Missense_Mutation_p.S108F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S108F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	108					protein transport (GO:0015031)			p.S108F(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTAATAGTTCTGGATTATTT	0.289																																					p.S108F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323T	6						.						79.0	82.0	81.0					6																	83818631		2203	4300	6503	83875350	SO:0001583	missense	23033	exon5			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.323C>T	6.37:g.83818631C>T	ENSP00000195654:p.Ser108Phe		83875350	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371278	0.82573	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.25085	1.82;1.82;1.82	5.74	5.74	0.90152	Dopey, N-terminal (1);	0.121781	0.64402	D	0.000019	T	0.42653	0.1212	M	0.71036	2.16	0.80722	D	1	D;P;P	0.76494	0.999;0.813;0.813	D;P;P	0.87578	0.998;0.707;0.707	T	0.03807	-1.1002	10	0.18710	T	0.47	.	20.3557	0.98840	0.0:1.0:0.0:0.0	.	108;108;108	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	108	ENSP00000195654:S108F;ENSP00000237163:S108F;ENSP00000358754:S108F	ENSP00000237163:S108F	S	+	2	0	DOPEY1	83875350	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.439000	0.80444	2.890000	0.99128	0.585000	0.79938	TCT		0.289	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
DOPEY1	23033	broad.mit.edu	37	6	83847934	83847934	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:83847934C>T	ENST00000349129.2	+	21	4433	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	DOPEY1_ENST00000237163.5_Silent_p.I1372I|DOPEY1_ENST00000369739.3_Silent_p.I1382I|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1391					protein transport (GO:0015031)			p.I1391I(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAAAGCCATCTTGAAAACTA	0.383																																					p.I1391I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4173T	6						.						130.0	138.0	135.0					6																	83847934		2203	4300	6503	83904653	SO:0001819	synonymous_variant	23033	exon21			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4173C>T	6.37:g.83847934C>T			83904653	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	CCDS4996.1																																																																																				0.383	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
RWDD2A	112611	broad.mit.edu	37	6	83905834	83905834	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:83905834C>A	ENST00000369724.4	+	3	927	c.722C>A	c.(721-723)tCt>tAt	p.S241Y	PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank|PGM3_ENST00000512866.1_5'Flank|RWDD2A_ENST00000539997.1_Missense_Mutation_p.S187Y|PGM3_ENST00000513973.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	241								p.S241Y(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTTTTCCATTCTTTTGAAGAG	0.433																																					p.S241Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722A	6						.						114.0	110.0	111.0					6																	83905834		2203	4300	6503	83962553	SO:0001583	missense	112611	exon3			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.722C>A	6.37:g.83905834C>A	ENSP00000358739:p.Ser241Tyr		83962553	NM_033411	B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	ENST00000369724.4	37	CCDS4998.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961331	0.34565	.	.	ENSG00000013392	ENST00000369724;ENST00000539997	.	.	.	5.38	3.58	0.41010	Domain of unknown function DUF1115 (1);	0.470309	0.21566	N	0.072498	T	0.32823	0.0842	L	0.34521	1.04	0.31654	N	0.646395	P	0.50710	0.938	P	0.52109	0.69	T	0.16041	-1.0416	9	0.59425	D	0.04	-15.5297	11.2611	0.49083	0.0:0.698:0.236:0.066	.	241	Q9UIY3	RWD2A_HUMAN	Y	241;187	.	ENSP00000358739:S241Y	S	+	2	0	RWDD2A	83962553	0.960000	0.32886	0.988000	0.46212	0.012000	0.07955	1.726000	0.38085	1.512000	0.48834	-0.127000	0.14921	TCT		0.433	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041348.2	NM_033411	
ME1	4199	broad.mit.edu	37	6	83921740	83921740	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:83921740C>T	ENST00000369705.3	-	14	1738	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	ME1_ENST00000543031.1_Missense_Mutation_p.R466H|ME1_ENST00000541327.1_Missense_Mutation_p.R375H	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	541				R -> S (in Ref. 2; AAB01380). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)	p.R541H(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CATCTGGGAGCGGACAAATGC	0.373																																					p.R541H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622A	6						.						149.0	139.0	142.0					6																	83921740		2203	4300	6503	83978459	SO:0001583	missense	4199	exon14			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1622G>A	6.37:g.83921740C>T	ENSP00000358719:p.Arg541His		83978459	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043223	0.36085	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.45276	0.9;0.9;0.9	5.86	-2.94	0.05581	NAD(P)-binding domain (1);	0.438549	0.28694	N	0.014444	T	0.14570	0.0352	M	0.64997	1.995	0.36442	D	0.86553	B	0.12013	0.005	B	0.09377	0.004	T	0.04551	-1.0943	10	0.87932	D	0	11.1751	1.8393	0.03147	0.2895:0.4039:0.0985:0.2081	.	541	P48163	MAOX_HUMAN	H	541;201;375;466	ENSP00000358719:R541H;ENSP00000439912:R375H;ENSP00000446114:R466H	ENSP00000358719:R541H	R	-	2	0	ME1	83978459	0.827000	0.29292	0.008000	0.14137	0.649000	0.38597	0.115000	0.15540	-1.062000	0.03181	-0.172000	0.13284	CGC		0.373	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
PRSS35	167681	broad.mit.edu	37	6	84233542	84233542	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84233542G>A	ENST00000369700.3	+	2	559	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PRSS35_ENST00000536636.1_Missense_Mutation_p.D128N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	128	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.D128N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTATGGCACCGACAGCAGGTT	0.463																																					p.D128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	6						.						95.0	89.0	91.0					6																	84233542		2203	4300	6503	84290261	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.382G>A	6.37:g.84233542G>A	ENSP00000358714:p.Asp128Asn		84290261	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762738	0.89932	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.44482	0.92;0.92	5.53	5.53	0.82687	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65298	-0.6202	10	0.87932	D	0	-33.23	19.4726	0.94969	0.0:0.0:1.0:0.0	.	128	Q8N3Z0	PRS35_HUMAN	N	128	ENSP00000440870:D128N;ENSP00000358714:D128N	ENSP00000358714:D128N	D	+	1	0	PRSS35	84290261	1.000000	0.71417	0.985000	0.45067	0.773000	0.43773	9.476000	0.97823	2.618000	0.88619	0.561000	0.74099	GAC		0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
PRSS35	167681	broad.mit.edu	37	6	84233685	84233685	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84233685G>T	ENST00000369700.3	+	2	702	c.525G>T	c.(523-525)aaG>aaT	p.K175N	PRSS35_ENST00000536636.1_Missense_Mutation_p.K175N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	175	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.K175N(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGATGGAAAGGACTATGTCA	0.478																																					p.K175N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G525T	6						.						100.0	104.0	103.0					6																	84233685		2203	4300	6503	84290404	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.525G>T	6.37:g.84233685G>T	ENSP00000358714:p.Lys175Asn		84290404	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	7.546	0.661605	0.14645	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.41065	1.01;1.01	5.78	-0.439	0.12264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.202093	0.50627	N	0.000111	T	0.11879	0.0289	N	0.25957	0.775	0.51767	D	0.999933	B	0.11235	0.004	B	0.12156	0.007	T	0.10941	-1.0608	10	0.62326	D	0.03	-15.7743	6.9128	0.24344	0.2464:0.3336:0.42:0.0	.	175	Q8N3Z0	PRS35_HUMAN	N	175	ENSP00000440870:K175N;ENSP00000358714:K175N	ENSP00000358714:K175N	K	+	3	2	PRSS35	84290404	1.000000	0.71417	0.010000	0.14722	0.046000	0.14306	1.335000	0.33839	-0.415000	0.07484	0.561000	0.74099	AAG		0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
PRSS35	167681	broad.mit.edu	37	6	84234054	84234054	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84234054G>A	ENST00000369700.3	+	2	1071	c.894G>A	c.(892-894)acG>acA	p.T298T	PRSS35_ENST00000536636.1_Silent_p.T298T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	298	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.T298T(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TCAGCCCAACGATCAAGAAAA	0.478																																					p.T298T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G894A	6						.						100.0	97.0	98.0					6																	84234054		2203	4300	6503	84290773	SO:0001819	synonymous_variant	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.894G>A	6.37:g.84234054G>A			84290773	NM_001170423	A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																				0.478	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
SNAP91	9892	broad.mit.edu	37	6	84304185	84304185	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84304185G>T	ENST00000439399.2	-	17	1656	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	SNAP91_ENST00000520302.1_Missense_Mutation_p.S445Y|SNAP91_ENST00000521743.1_Missense_Mutation_p.S447Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000428679.2_Missense_Mutation_p.S447Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S447Y|SNAP91_ENST00000521485.1_Missense_Mutation_p.S447Y|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S447Y	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	447	Ala-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.S447Y(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTCCCCAGGAGAAGCTGCAAA	0.473																																					p.S447Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1340A	6						.						17.0	17.0	17.0					6																	84304185		1762	3971	5733	84360904	SO:0001583	missense	9892	exon16			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1340C>A	6.37:g.84304185G>T	ENSP00000400459:p.Ser447Tyr		84360904	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121766	0.77436	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743	T;T;T;T;T;T;T	0.16897	2.32;2.31;2.31;2.32;2.32;2.33;2.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	L	0.60455	1.87	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.75484	0.986;0.986;0.986	T	0.03673	-1.1014	10	0.87932	D	0	-21.8005	19.942	0.97168	0.0:0.0:1.0:0.0	.	445;447;445	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	Y	447;447;447;447;447;445;447	ENSP00000429776:S447Y;ENSP00000358708:S447Y;ENSP00000400459:S447Y;ENSP00000195649:S447Y;ENSP00000412492:S447Y;ENSP00000428511:S445Y;ENSP00000428215:S447Y	ENSP00000195649:S447Y	S	-	2	0	SNAP91	84360904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.218000	0.89768	2.714000	0.92807	0.561000	0.74099	TCT		0.473	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
SNAP91	9892	broad.mit.edu	37	6	84375235	84375235	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84375235G>A	ENST00000439399.2	-	3	512	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	SNAP91_ENST00000520302.1_Missense_Mutation_p.R66W|SNAP91_ENST00000521743.1_Missense_Mutation_p.R66W|SNAP91_ENST00000437520.1_Missense_Mutation_p.R66W|SNAP91_ENST00000428679.2_Missense_Mutation_p.R66W|SNAP91_ENST00000195649.6_Missense_Mutation_p.R66W|SNAP91_ENST00000521485.1_Missense_Mutation_p.R66W|SNAP91_ENST00000520213.1_Missense_Mutation_p.R66W|SNAP91_ENST00000369694.2_Missense_Mutation_p.R66W	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	66	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.R66W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTTGTTGCCCGCTCAAAGAGA	0.378																																					p.R66W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C196T	6						.						173.0	166.0	168.0					6																	84375235		1880	4099	5979	84431954	SO:0001583	missense	9892	exon3			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.196C>T	6.37:g.84375235G>A	ENSP00000400459:p.Arg66Trp		84431954	NM_014841	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088126	0.76642	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.6	3.53	0.40419	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.84076	0.0382	10	0.87932	D	0	-8.475	15.2687	0.73683	0.0:0.0:0.6923:0.3077	.	66;66;66;66	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	W	66	ENSP00000429776:R66W;ENSP00000358708:R66W;ENSP00000400459:R66W;ENSP00000195649:R66W;ENSP00000412492:R66W;ENSP00000413277:R66W;ENSP00000428511:R66W;ENSP00000428215:R66W;ENSP00000428026:R66W;ENSP00000430071:R66W;ENSP00000429429:R66W;ENSP00000430441:R66W;ENSP00000358704:R66W;ENSP00000427959:R66W;ENSP00000431055:R66W	ENSP00000195649:R66W	R	-	1	2	SNAP91	84431954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.005000	0.29834	1.480000	0.48289	-0.311000	0.09066	CGG		0.378	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		
CYB5R4	51167	broad.mit.edu	37	6	84665135	84665135	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84665135C>A	ENST00000369681.5	+	15	1605	c.1465C>A	c.(1465-1467)Ctc>Atc	p.L489I		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	489					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.L489I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATCCAAAGTTCTCGTCTGCAT	0.403																																					p.L489I	Esophageal Squamous(86;1289 1332 25971 40349 52675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1465A	6						.						84.0	82.0	83.0					6																	84665135		2203	4300	6503	84721854	SO:0001583	missense	51167	exon15			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1465C>A	6.37:g.84665135C>A	ENSP00000358695:p.Leu489Ile		84721854	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091808	0.55968	.	.	ENSG00000065615	ENST00000369681	D	0.87029	-2.2	5.23	3.4	0.38934	Oxidoreductase FAD/NAD(P)-binding (1);	0.268822	0.40908	D	0.000988	D	0.84831	0.5559	M	0.81497	2.545	0.80722	D	1	B	0.31859	0.343	B	0.43155	0.41	D	0.83486	0.0067	10	0.59425	D	0.04	.	8.89	0.35427	0.0:0.7642:0.1511:0.0847	.	489	Q7L1T6	NB5R4_HUMAN	I	489	ENSP00000358695:L489I	ENSP00000358695:L489I	L	+	1	0	CYB5R4	84721854	0.984000	0.35163	0.925000	0.36789	0.513000	0.34164	2.307000	0.43682	0.545000	0.28902	0.460000	0.39030	CTC		0.403	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	
CEP162	22832	broad.mit.edu	37	6	84859327	84859327	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84859327G>T	ENST00000403245.3	-	24	3839	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	NM_014895.2	NP_055710.2												p.S1242Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTGGAAGAAGAATTTTCTAC	0.363																																					p.S1242Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3725A	6						.						149.0	147.0	148.0					6																	84859327		2203	4300	6503	84916046	SO:0001583	missense	22832	exon24																														ENST00000403245.3:c.3725C>A	6.37:g.84859327G>T	ENSP00000385215:p.Ser1242Tyr		84916046	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271141	0.80469	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.22945	1.93;1.93	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.76002	2.32	0.51767	D	0.999933	D	0.63880	0.993	D	0.63192	0.912	T	0.45804	-0.9236	10	0.72032	D	0.01	-4.8016	19.008	0.92859	0.0:0.0:1.0:0.0	.	1242	Q5TB80	QN1_HUMAN	Y	1166;1242	ENSP00000257766:S1166Y;ENSP00000385215:S1242Y	ENSP00000257766:S1166Y	S	-	2	0	KIAA1009	84916046	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.216000	0.89764	2.470000	0.83445	0.460000	0.39030	TCT		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
CEP162	22832	broad.mit.edu	37	6	84872918	84872918	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84872918G>A	ENST00000403245.3	-	19	2571	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.F743F	NM_014895.2	NP_055710.2												p.F819F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCATTTTTTCGAAGTCTACTT	0.333																																					p.F819F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2457T	6						.						234.0	213.0	220.0					6																	84872918		2203	4300	6503	84929637	SO:0001819	synonymous_variant	22832	exon19																														ENST00000403245.3:c.2457C>T	6.37:g.84872918G>A			84929637	NM_014895		Silent	SNP	ENST00000403245.3	37	CCDS34494.2																																																																																				0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
CEP162	22832	broad.mit.edu	37	6	84884463	84884463	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84884463A>C	ENST00000403245.3	-	15	2122	c.2008T>G	c.(2008-2010)Tat>Gat	p.Y670D	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.Y594D	NM_014895.2	NP_055710.2												p.Y670D(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TGAAGAATATAATTATCTTGA	0.284																																					p.Y670D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2008G	6						.						49.0	43.0	45.0					6																	84884463		2198	4289	6487	84941182	SO:0001583	missense	22832	exon15																														ENST00000403245.3:c.2008T>G	6.37:g.84884463A>C	ENSP00000385215:p.Tyr670Asp		84941182	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835768	0.71373	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.33865	1.39;1.39	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.53769	0.1817	M	0.77616	2.38	0.44337	D	0.997224	D	0.89917	1.0	D	0.91635	0.999	T	0.57051	-0.7877	10	0.48119	T	0.1	-2.833	15.8594	0.79009	1.0:0.0:0.0:0.0	.	670	Q5TB80	QN1_HUMAN	D	594;670	ENSP00000257766:Y594D;ENSP00000385215:Y670D	ENSP00000257766:Y594D	Y	-	1	0	KIAA1009	84941182	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.398000	0.73244	2.211000	0.71520	0.460000	0.39030	TAT		0.284	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
CEP162	22832	broad.mit.edu	37	6	84925545	84925545	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84925545G>T	ENST00000403245.3	-	4	382	c.268C>A	c.(268-270)Ctt>Att	p.L90I	KIAA1009_ENST00000257766.4_Missense_Mutation_p.L14I	NM_014895.2	NP_055710.2												p.L90I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTGCTCTTAAGAAATTGAATC	0.353																																					p.L90I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268A	6						.						53.0	49.0	50.0					6																	84925545		2201	4293	6494	84982264	SO:0001583	missense	22832	exon4																														ENST00000403245.3:c.268C>A	6.37:g.84925545G>T	ENSP00000385215:p.Leu90Ile		84982264	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094255	0.36952	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.19394	2.15;2.17	5.54	3.72	0.42706	.	0.432524	0.21913	N	0.067276	T	0.11239	0.0274	M	0.67953	2.075	0.09310	N	1	P;P	0.45827	0.763;0.867	B;P	0.44897	0.288;0.463	T	0.08868	-1.0701	10	0.32370	T	0.25	-10.6225	6.3434	0.21335	0.2065:0.0:0.657:0.1365	.	90;90	Q5TB80;C9JFM9	QN1_HUMAN;.	I	14;90	ENSP00000257766:L14I;ENSP00000385215:L90I	ENSP00000257766:L14I	L	-	1	0	KIAA1009	84982264	1.000000	0.71417	0.993000	0.49108	0.895000	0.52256	2.344000	0.44010	1.477000	0.48234	0.655000	0.94253	CTT		0.353	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
CEP162	22832	broad.mit.edu	37	6	84936057	84936057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:84936057C>A	ENST00000403245.3	-	2	169	c.55G>T	c.(55-57)Gag>Tag	p.E19*	KIAA1009_ENST00000257766.4_Intron	NM_014895.2	NP_055710.2												p.E19*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AAACTTACCTCTTTCATAAAC	0.338																																					p.E19X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G55T	6						.						59.0	57.0	58.0					6																	84936057		1820	4051	5871	84992776	SO:0001587	stop_gained	22832	exon2																														ENST00000403245.3:c.55G>T	6.37:g.84936057C>A	ENSP00000385215:p.Glu19*		84992776	NM_014895		Nonsense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	37	6.452178	0.97577	.	.	ENSG00000135315	ENST00000403245	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.8399	15.8007	0.78453	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000385215:E19X	E	-	1	0	KIAA1009	84992776	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.308000	0.59129	2.467000	0.83353	0.561000	0.74099	GAG		0.338	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
TBX18	9096	broad.mit.edu	37	6	85466570	85466570	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:85466570G>A	ENST00000369663.5	-	4	954	c.617C>T	c.(616-618)tCg>tTg	p.S206L	TBX18_ENST00000606784.1_Missense_Mutation_p.S48L|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	206					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S206L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CATCCATTTCGAACTGTGGTA	0.488																																					p.S206L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C617T	6						.						109.0	86.0	94.0					6																	85466570		2203	4300	6503	85523289	SO:0001583	missense	9096	exon4			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.617C>T	6.37:g.85466570G>A	ENSP00000358677:p.Ser206Leu		85523289	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069191	0.76301	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	T	0.81330	-1.48	6.06	6.06	0.98353	p53-like transcription factor, DNA-binding (1);	0.095323	0.64402	D	0.000001	D	0.93327	0.7873	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94238	0.7482	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	122;206	Q8IW86;O95935	.;TBX18_HUMAN	L	121;206	ENSP00000358677:S206L	ENSP00000358677:S206L	S	-	2	0	TBX18	85523289	1.000000	0.71417	0.998000	0.56505	0.043000	0.13939	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TCG		0.488	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
NT5E	4907	broad.mit.edu	37	6	86194984	86194984	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:86194984G>A	ENST00000257770.3	+	4	832	c.783G>A	c.(781-783)ggG>ggA	p.G261G	NT5E_ENST00000369651.3_Silent_p.G261G	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	261					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.G261G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TGCCTGCTGGGAAGTACCCAT	0.502																																					p.G261G	Melanoma(140;797 1765 2035 2752 18208)											NT5E,central_nervous_system,brain,Substitution - Missense,+1	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G783A	6						.						102.0	87.0	92.0					6																	86194984		2203	4300	6503	86251703	SO:0001819	synonymous_variant	4907	exon4			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.783G>A	6.37:g.86194984G>A			86251703	NM_002526	B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081738	0.20309	.	.	ENSG00000135318	ENST00000416334	T	0.66280	-0.2	5.63	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64050	-0.6498	7	0.87932	D	0	-15.3447	2.3625	0.04310	0.1318:0.1432:0.4772:0.2478	.	.	.	.	E	26	ENSP00000414674:G26E	ENSP00000414674:G26E	G	+	2	0	NT5E	86251703	0.032000	0.19561	1.000000	0.80357	0.996000	0.88848	0.224000	0.17738	2.646000	0.89796	0.462000	0.41574	GGA		0.502	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1		
SNX14	57231	broad.mit.edu	37	6	86235847	86235847	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:86235847G>T	ENST00000314673.3	-	21	2280	c.2104C>A	c.(2104-2106)Ctt>Att	p.L702I	SNX14_ENST00000505648.1_Missense_Mutation_p.L650I|SNX14_ENST00000346348.3_Missense_Mutation_p.L649I|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.L693I|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	702					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.L702I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GACTTACCAAGATTTACATCT	0.323																																					p.L649I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1945A	6						.						27.0	27.0	27.0					6																	86235847		2201	4299	6500	86292566	SO:0001583	missense	57231	exon18			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2104C>A	6.37:g.86235847G>T	ENSP00000313121:p.Leu702Ile		86292566	NM_020468	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290582	0.59976	.	.	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T	0.27402	1.74;1.7;1.72;1.67;1.75	4.87	4.87	0.63330	.	0.156448	0.43579	D	0.000542	T	0.23330	0.0564	L	0.38175	1.15	0.54753	D	0.999988	D;P;P;D	0.57571	0.98;0.947;0.941;0.965	P;P;P;P	0.54460	0.753;0.58;0.571;0.69	T	0.01420	-1.1359	10	0.33141	T	0.24	.	11.5218	0.50555	0.0828:0.0:0.9172:0.0	.	693;649;702;650	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	649;159;702;650;693;620;67	ENSP00000257769:L649I;ENSP00000313121:L702I;ENSP00000427380:L650I;ENSP00000358641:L693I;ENSP00000425630:L620I	ENSP00000313121:L702I	L	-	1	0	SNX14	86292566	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.403000	0.79983	2.228000	0.72767	0.655000	0.94253	CTT		0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
SNX14	57231	broad.mit.edu	37	6	86252950	86252950	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:86252950G>T	ENST00000314673.3	-	14	1515	c.1339C>A	c.(1339-1341)Ctt>Att	p.L447I	SNX14_ENST00000505648.1_Missense_Mutation_p.L395I|SNX14_ENST00000346348.3_Missense_Mutation_p.L403I|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000369627.2_Missense_Mutation_p.L447I|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	447	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.L447I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAAAGGGAAAGAACATGTTCA	0.303																																					p.L403I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207A	6						.						94.0	100.0	98.0					6																	86252950		2203	4293	6496	86309669	SO:0001583	missense	57231	exon12			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1339C>A	6.37:g.86252950G>T	ENSP00000313121:p.Leu447Ile		86309669	NM_020468	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867453	0.51588	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.63	5.63	0.86233	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22551	0.0544	L	0.60455	1.87	0.58432	D	0.999999	P;P;P;P	0.44521	0.837;0.837;0.784;0.743	B;B;P;B	0.46796	0.392;0.392;0.527;0.392	T	0.00827	-1.1550	10	0.37606	T	0.19	-15.9525	13.9212	0.63933	0.0726:0.0:0.9274:0.0	.	447;403;447;395	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	403;447;395;447;374	ENSP00000257769:L403I;ENSP00000313121:L447I;ENSP00000427380:L395I;ENSP00000358641:L447I;ENSP00000425630:L374I	ENSP00000313121:L447I	L	-	1	0	SNX14	86309669	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	6.370000	0.73114	2.660000	0.90430	0.313000	0.20887	CTT		0.303	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816	
SYNCRIP	10492	broad.mit.edu	37	6	86333742	86333742	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:86333742T>G	ENST00000369622.3	-	7	1255	c.755A>C	c.(754-756)aAg>aCg	p.K252T	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.K252T	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	252	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K252T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GGTTTTACTCTTAGGAATAGA	0.343																																					p.K154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461C	6						.						100.0	97.0	98.0					6																	86333742		2203	4300	6503	86390461	SO:0001583	missense	10492	exon6			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.755A>C	6.37:g.86333742T>G	ENSP00000358635:p.Lys252Thr		86390461	NM_001159673	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	32	5.186358	0.94885	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.16196	2.36;2.36	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.99;1.0;0.997;0.971;1.0;0.976;0.99	D;D;D;P;D;P;D	0.97110	0.909;0.999;0.98;0.899;1.0;0.852;0.909	T	0.20273	-1.0280	10	0.87932	D	0	.	16.2444	0.82434	0.0:0.0:0.0:1.0	.	252;252;154;100;252;252;252	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	T	252	ENSP00000347380:K252T;ENSP00000358635:K252T	ENSP00000347380:K252T	K	-	2	0	SYNCRIP	86390461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.233000	0.73108	0.455000	0.32223	AAG		0.343	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372	
SYNCRIP	10492	broad.mit.edu	37	6	86350232	86350232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:86350232C>A	ENST00000369622.3	-	3	699	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.E67*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	67					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E67*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCATTGAATTCTTTTAAAGCT	0.294																																					p.E67X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G199T	6						.						70.0	70.0	70.0					6																	86350232		2203	4294	6497	86406951	SO:0001587	stop_gained	10492	exon3			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.199G>T	6.37:g.86350232C>A	ENSP00000358635:p.Glu67*		86406951	NM_001159677	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	37	6.373811	0.97515	.	.	ENSG00000135316	ENST00000355238;ENST00000369622;ENST00000444272	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4659	0.90755	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000347380:E67X	E	-	1	0	SYNCRIP	86406951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.329000	0.79093	0.655000	0.94253	GAA		0.294	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372	
HTR1E	3354	broad.mit.edu	37	6	87725304	87725304	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87725304C>A	ENST00000305344.5	+	2	955	c.252C>A	c.(250-252)gtC>gtA	p.V84V		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	84					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V84V(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCTACATTGTCATGGATCGCT	0.567																																					p.V84V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252A	6						.						164.0	139.0	148.0					6																	87725304		2203	4300	6503	87782023	SO:0001819	synonymous_variant	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.252C>A	6.37:g.87725304C>A			87782023	NM_000865	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																				0.567	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
HTR1E	3354	broad.mit.edu	37	6	87726062	87726062	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87726062C>A	ENST00000305344.5	+	2	1713	c.1010C>A	c.(1009-1011)tCt>tAt	p.S337Y		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	337					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S337Y(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TATGTGAATTCTCTGATCAAC	0.438																																					p.S337Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010A	6						.						117.0	124.0	121.0					6																	87726062		2203	4300	6503	87782781	SO:0001583	missense	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1010C>A	6.37:g.87726062C>A	ENSP00000307766:p.Ser337Tyr		87782781	NM_000865	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772164	0.69992	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.79845	-1.31;-1.31	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000008	D	0.93913	0.8052	H	0.99074	4.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96837	0.9615	10	0.87932	D	0	.	17.4189	0.87508	0.0:1.0:0.0:0.0	.	337	P28566	5HT1E_HUMAN	Y	337	ENSP00000307766:S337Y;ENSP00000358597:S337Y	ENSP00000307766:S337Y	S	+	2	0	HTR1E	87782781	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.320000	0.79064	2.119000	0.64992	0.407000	0.27541	TCT		0.438	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
ZNF292	23036	broad.mit.edu	37	6	87943060	87943060	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87943060T>G	ENST00000369577.3	+	5	599	c.556T>G	c.(556-558)Ttt>Gtt	p.F186V	ZNF292_ENST00000339907.4_Missense_Mutation_p.F181V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	186						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F186V(1)|p.F41V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATTTTTAGCTTTTGAGGGTCC	0.294																																					p.F186V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T556G	6						.						53.0	50.0	51.0					6																	87943060		1805	4071	5876	87999779	SO:0001583	missense	23036	exon5			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.556T>G	6.37:g.87943060T>G	ENSP00000358590:p.Phe186Val		87999779	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	9.499	1.102685	0.20632	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06849	3.28;3.25	5.36	5.36	0.76844	.	0.201128	0.50627	D	0.000119	T	0.01800	0.0057	N	0.08118	0	0.36651	D	0.877381	B	0.19445	0.036	B	0.15484	0.013	T	0.47774	-0.9091	10	0.15952	T	0.53	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	186	O60281	ZN292_HUMAN	V	186;181	ENSP00000358590:F186V;ENSP00000342847:F181V	ENSP00000342847:F181V	F	+	1	0	ZNF292	87999779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.261000	0.51530	2.158000	0.67659	0.460000	0.39030	TTT		0.294	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87965425	87965425	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87965425A>C	ENST00000369577.3	+	8	2121	c.2078A>C	c.(2077-2079)aAg>aCg	p.K693T	ZNF292_ENST00000339907.4_Missense_Mutation_p.K688T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	693						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.K693T(1)|p.K548T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGGGCTTTAAGTACTTTAAA	0.358																																					p.K693T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2078C	6						.						35.0	33.0	34.0					6																	87965425		1808	4060	5868	88022144	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2078A>C	6.37:g.87965425A>C	ENSP00000358590:p.Lys693Thr		88022144	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459647	0.63401	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.51817	0.69;0.69	5.96	5.96	0.96718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	L	0.27944	0.81	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.54456	-0.8291	10	0.54805	T	0.06	.	16.4447	0.83919	1.0:0.0:0.0:0.0	.	693	O60281	ZN292_HUMAN	T	693;688	ENSP00000358590:K693T;ENSP00000342847:K688T	ENSP00000342847:K688T	K	+	2	0	ZNF292	88022144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.284000	0.76573	0.528000	0.53228	AAG		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87966676	87966676	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87966676A>G	ENST00000369577.3	+	8	3372	c.3329A>G	c.(3328-3330)aAt>aGt	p.N1110S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1105S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1110						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.N1110S(1)|p.N965S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGAACCTATAATTCTTCACAG	0.433																																					p.N1110S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3329G	6						.						53.0	49.0	51.0					6																	87966676		1868	4101	5969	88023395	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3329A>G	6.37:g.87966676A>G	ENSP00000358590:p.Asn1110Ser		88023395	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438034	0.43326	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06528	3.29;3.3	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.081171	0.85682	D	0.000000	T	0.10551	0.0258	L	0.46157	1.445	0.35468	D	0.79712	D	0.69078	0.997	D	0.75020	0.985	T	0.18587	-1.0332	10	0.29301	T	0.29	.	15.6783	0.77344	1.0:0.0:0.0:0.0	.	1110	O60281	ZN292_HUMAN	S	1110;1105	ENSP00000358590:N1110S;ENSP00000342847:N1105S	ENSP00000342847:N1105S	N	+	2	0	ZNF292	88023395	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	6.024000	0.70857	2.111000	0.64477	0.482000	0.46254	AAT		0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87969725	87969725	+	Silent	SNP	G	G	A	rs201454729	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87969725G>A	ENST00000369577.3	+	8	6421	c.6378G>A	c.(6376-6378)acG>acA	p.T2126T	ZNF292_ENST00000339907.4_Silent_p.T2121T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2126						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGCCTTTACGATACAGCAAA	0.433													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		20724	0.0		0.0	False		,,,				2504	0.0				p.T2126T												.	.	0			c.G6378A	6						.	A		3,3817		0,3,1907	88.0	88.0	88.0		6378	-3.5	1.0	6		88	0,8230		0,0,4115	no	coding-synonymous	ZNF292	NM_015021.1		0,3,6022	AA,AG,GG		0.0,0.0785,0.0249		2126/2724	87969725	3,12047	1910	4115	6025	88026444	SO:0001819	synonymous_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6378G>A	6.37:g.87969725G>A			88026444	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
ZNF292	23036	broad.mit.edu	37	6	87970293	87970293	+	Missense_Mutation	SNP	C	C	T	rs201424493		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:87970293C>T	ENST00000369577.3	+	8	6989	c.6946C>T	c.(6946-6948)Cgg>Tgg	p.R2316W	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2311W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2316						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R2171W(1)|p.R2316W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCTAAACATCGGGGGACCAA	0.373																																					p.R2316W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6946T	6						.	C	TRP/ARG	1,3737		0,1,1868	38.0	40.0	39.0		6946	4.7	1.0	6		39	1,8181		0,1,4090	yes	missense	ZNF292	NM_015021.1	101	0,2,5958	TT,TC,CC		0.0122,0.0268,0.0168	probably-damaging	2316/2724	87970293	2,11918	1869	4091	5960	88027012	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6946C>T	6.37:g.87970293C>T	ENSP00000358590:p.Arg2316Trp		88027012	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697272	0.30142	2.68E-4	1.22E-4	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.50001	3.18;3.19;0.76	5.62	4.74	0.60224	.	0.153517	0.53938	D	0.000044	T	0.52948	0.1766	M	0.63428	1.95	0.33668	D	0.610622	D	0.89917	1.0	D	0.65573	0.936	T	0.62666	-0.6806	10	0.87932	D	0	.	13.0434	0.58913	0.437:0.563:0.0:0.0	.	2316	O60281	ZN292_HUMAN	W	2316;2311;234	ENSP00000358590:R2316W;ENSP00000342847:R2311W;ENSP00000428857:R234W	ENSP00000342847:R2311W	R	+	1	2	ZNF292	88027012	0.019000	0.18553	0.994000	0.49952	0.393000	0.30537	0.183000	0.16919	1.359000	0.45940	0.585000	0.79938	CGG		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
SMIM8	57150	broad.mit.edu	37	6	88049912	88049912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88049912G>T	ENST00000392863.1	+	4	303	c.214G>T	c.(214-216)Gag>Tag	p.E72*	SMIM8_ENST00000608353.1_Nonsense_Mutation_p.E72*|RP1-102H19.8_ENST00000448282.2_Intron|SMIM8_ENST00000608525.1_Intron|SMIM8_ENST00000229570.5_Nonsense_Mutation_p.E72*|SMIM8_ENST00000608868.1_Nonsense_Mutation_p.E72*	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	72						integral component of membrane (GO:0016021)		p.E72*(1)									TGCAATACAAGAGAATAAAAA	0.373																																					p.E72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G214T	6						.						120.0	121.0	121.0					6																	88049912		2203	4300	6503	88106631	SO:0001587	stop_gained	57150	exon4			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 162"""	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.214G>T	6.37:g.88049912G>T	ENSP00000376603:p.Glu72*		88106631	NM_001042493	B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Nonsense_Mutation	SNP	ENST00000392863.1	37	CCDS34496.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319453	0.95682	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.56	5.56	0.83823	.	0.090676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.005	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000229570:E72X	E	+	1	0	C6orf162	88106631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.322000	0.96357	2.776000	0.95493	0.655000	0.94253	GAG		0.373	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472479.2	NM_020425	
C6orf165	154313	broad.mit.edu	37	6	88140810	88140810	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88140810G>A	ENST00000507897.1	+	10	1302	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A407T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	407								p.A407T(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAACAACAGCAAATTTTGA	0.358																																					p.A407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	6						.						91.0	85.0	87.0					6																	88140810		2203	4300	6503	88197529	SO:0001583	missense	154313	exon10			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1219G>A	6.37:g.88140810G>A	ENSP00000426769:p.Ala407Thr		88197529	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751820	0.49362	.	.	ENSG00000213204	ENST00000369562	T	0.31247	1.5	5.51	5.51	0.81932	.	0.211314	0.49916	D	0.000135	T	0.15912	0.0383	L	0.43701	1.375	0.49915	D	0.999837	B	0.32031	0.352	B	0.30105	0.111	T	0.04242	-1.0966	10	0.17832	T	0.49	.	19.0404	0.92997	0.0:0.0:1.0:0.0	.	407	Q8IYR0	CF165_HUMAN	T	407	ENSP00000358575:A407T	ENSP00000358575:A407T	A	+	1	0	C6orf165	88197529	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.849000	0.55910	2.589000	0.87451	0.591000	0.81541	GCA		0.358	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
SLC35A1	10559	broad.mit.edu	37	6	88187167	88187167	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88187167G>T	ENST00000369552.4	+	2	131	c.104G>T	c.(103-105)aGg>aTg	p.R35M	SLC35A1_ENST00000544441.1_5'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.R35M|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Missense_Mutation_p.R35M	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	35					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.R35M(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGATACACAAGGACATCAGAC	0.373																																					p.R35M	NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104T	6						.						112.0	106.0	108.0					6																	88187167		2203	4300	6503	88243886	SO:0001583	missense	10559	exon2			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.104G>T	6.37:g.88187167G>T	ENSP00000358565:p.Arg35Met		88243886	NM_006416	Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	37	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178174	0.94846	.	.	ENSG00000164414	ENST00000369556;ENST00000369552;ENST00000429605;ENST00000369557;ENST00000369544	T	0.53206	0.63	5.62	5.62	0.85841	.	0.000000	0.85682	U	0.000000	T	0.73249	0.3563	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	T	0.79383	-0.1826	10	0.87932	D	0	-31.8085	19.6689	0.95903	0.0:0.0:1.0:0.0	.	35;35	P78382;Q5W1L8	S35A1_HUMAN;.	M	35;35;35;35;16	ENSP00000358565:R35M	ENSP00000358557:R16M	R	+	2	0	SLC35A1	88243886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.642000	0.89623	0.655000	0.94253	AGG		0.373	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1		
RARS2	57038	broad.mit.edu	37	6	88258320	88258320	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88258320G>T	ENST00000369536.5	-	6	485	c.440C>A	c.(439-441)tCt>tAt	p.S147Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	147					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S147Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TATGATGGTAGAACGCAAATG	0.299																																					p.S147Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440A	6						.						80.0	75.0	77.0					6																	88258320		2203	4300	6503	88315039	SO:0001583	missense	57038	exon6			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.440C>A	6.37:g.88258320G>T	ENSP00000358549:p.Ser147Tyr		88315039	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.269413|4.269413	0.80469|0.80469	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|T	.|0.68624	.|-0.34	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Arginyl-tRNA synthetase, class Ia, core (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.049401	.|0.85682	.|D	.|0.000000	D|D	0.88355|0.88355	0.6414|0.6414	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.91913|0.91913	0.5541|0.5541	5|10	.|0.87932	.|D	.|0	.|.	18.8048|18.8048	0.92032|0.92032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|147	.|Q5T160	.|SYRM_HUMAN	I|Y	175|147;174	.|ENSP00000358549:S147Y	.|ENSP00000358536:S174Y	L|S	-|-	1|2	2|0	RARS2|RARS2	88315039|88315039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.887000|7.887000	0.87295|0.87295	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	CTA|TCT		0.299	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
ORC3	23595	broad.mit.edu	37	6	88331076	88331076	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88331076C>A	ENST00000392844.3	+	10	1040	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	ORC3_ENST00000257789.4_Missense_Mutation_p.S331Y|ORC3_ENST00000417380.2_Missense_Mutation_p.S278Y|ORC3_ENST00000546266.1_Missense_Mutation_p.S188Y	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	331					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.S331Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTTCAGCTTTCTCTATTAGAG	0.313																																					p.S331Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C992A	6						.						87.0	90.0	89.0					6																	88331076		2202	4297	6499	88387795	SO:0001583	missense	23595	exon10			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.992C>A	6.37:g.88331076C>A	ENSP00000376586:p.Ser331Tyr		88387795	NM_012381	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697727	0.68386	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.51	5.51	0.81932	.	0.241113	0.45361	D	0.000373	T	0.32376	0.0827	M	0.67953	2.075	0.53005	D	0.99996	D;D;D;D;D	0.69078	0.987;0.997;0.971;0.993;0.996	D;D;D;D;D	0.71656	0.934;0.974;0.934;0.968;0.946	T	0.02042	-1.1224	10	0.72032	D	0.01	-1.1534	16.2993	0.82801	0.0:0.859:0.141:0.0	.	331;331;269;331;331	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	Y	331;331;188;278	ENSP00000376586:S331Y;ENSP00000257789:S331Y;ENSP00000444695:S188Y;ENSP00000390176:S278Y	ENSP00000257789:S331Y	S	+	2	0	ORC3	88387795	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.684000	0.68197	2.738000	0.93877	0.655000	0.94253	TCT		0.313	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
SPACA1	81833	broad.mit.edu	37	6	88767422	88767422	+	Missense_Mutation	SNP	G	G	T	rs557931381		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88767422G>T	ENST00000237201.1	+	3	475	c.358G>T	c.(358-360)Gat>Tat	p.D120Y		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	120					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.D120Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGGACCAACAGATTGTGGCTG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16753	0.001		0.0	False		,,,				2504	0.0				p.D120Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358T	6						.						103.0	101.0	102.0					6																	88767422		2203	4300	6503	88824141	SO:0001583	missense	81833	exon3			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.358G>T	6.37:g.88767422G>T	ENSP00000237201:p.Asp120Tyr		88824141	NM_030960		Missense_Mutation	SNP	ENST00000237201.1	37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757374	0.49468	.	.	ENSG00000118434	ENST00000237201	T	0.22336	1.96	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.39911	0.1096	M	0.67953	2.075	0.44104	D	0.996872	D	0.89917	1.0	D	0.91635	0.999	T	0.16335	-1.0406	10	0.87932	D	0	-30.5078	18.0854	0.89456	0.0:0.0:1.0:0.0	.	120	Q9HBV2	SACA1_HUMAN	Y	120	ENSP00000237201:D120Y	ENSP00000237201:D120Y	D	+	1	0	SPACA1	88824141	1.000000	0.71417	0.821000	0.32701	0.122000	0.20287	5.831000	0.69330	2.776000	0.95493	0.655000	0.94253	GAT		0.438	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1		
SPACA1	81833	broad.mit.edu	37	6	88769240	88769240	+	Missense_Mutation	SNP	G	G	A	rs371980319		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88769240G>A	ENST00000237201.1	+	5	661	c.544G>A	c.(544-546)Gag>Aag	p.E182K	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	182					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.E182K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CTTGGCTTTCGAGTGTGACAC	0.348																																					p.E182K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G544A	6						.	G	LYS/GLU	0,4406		0,0,2203	95.0	93.0	94.0		544	0.2	0.1	6		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA1	NM_030960.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	182/295	88769240	1,13005	2203	4300	6503	88825959	SO:0001583	missense	81833	exon5			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.544G>A	6.37:g.88769240G>A	ENSP00000237201:p.Glu182Lys		88825959	NM_030960		Missense_Mutation	SNP	ENST00000237201.1	37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101589	0.20632	0.0	1.16E-4	ENSG00000118434	ENST00000237201	T	0.23348	1.91	5.5	0.191	0.15130	.	0.524214	0.18693	N	0.133781	T	0.12689	0.0308	L	0.51422	1.61	0.09310	N	1	B	0.32876	0.388	B	0.29524	0.103	T	0.16100	-1.0414	10	0.56958	D	0.05	-4.2235	21.0354	0.99944	0.0:0.5717:0.4283:0.0	.	182	Q9HBV2	SACA1_HUMAN	K	182	ENSP00000237201:E182K	ENSP00000237201:E182K	E	+	1	0	SPACA1	88825959	0.267000	0.24122	0.105000	0.21289	0.367000	0.29736	0.465000	0.22004	-0.215000	0.10063	-0.810000	0.03169	GAG		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1		
CNR1	1268	broad.mit.edu	37	6	88854070	88854070	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88854070C>A	ENST00000537554.1	-	2	4486	c.924G>T	c.(922-924)atG>atT	p.M308I	CNR1_ENST00000535130.1_Missense_Mutation_p.M308I|CNR1_ENST00000549716.1_Missense_Mutation_p.M247I|CNR1_ENST00000428600.2_Missense_Mutation_p.M308I|CNR1_ENST00000468898.1_Missense_Mutation_p.M275I|CNR1_ENST00000369501.2_Missense_Mutation_p.M308I|CNR1_ENST00000369499.2_Missense_Mutation_p.M308I|CNR1_ENST00000549890.1_Missense_Mutation_p.M308I|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	308					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.M308I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CACGCTGAATCATGCGGACGG	0.547																																					p.M308I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G924T	6						.						107.0	98.0	101.0					6																	88854070		2203	4300	6503	88910789	SO:0001583	missense	1268	exon2			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.924G>T	6.37:g.88854070C>A	ENSP00000441046:p.Met308Ile		88910789	NM_001160259	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679175	0.68042	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	N	0.12182	0.205	0.80722	D	1	D;D	0.56746	0.962;0.977	D;P	0.66716	0.946;0.905	T	0.75297	-0.3367	10	0.87932	D	0	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	275;308	P21554-3;P21554	.;CNR1_HUMAN	I	308;308;308;308;308;275;308;247	ENSP00000358513:M308I;ENSP00000442689:M308I;ENSP00000441046:M308I;ENSP00000358511:M308I;ENSP00000446819:M308I;ENSP00000420188:M275I;ENSP00000412192:M308I;ENSP00000449549:M247I	ENSP00000358511:M308I	M	-	3	0	CNR1	88910789	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	7.818000	0.86416	2.880000	0.98712	0.655000	0.94253	ATG		0.547	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
CNR1	1268	broad.mit.edu	37	6	88854250	88854250	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:88854250G>A	ENST00000537554.1	-	2	4306	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CNR1_ENST00000535130.1_Silent_p.A248A|CNR1_ENST00000549716.1_Silent_p.A187A|CNR1_ENST00000428600.2_Silent_p.A248A|CNR1_ENST00000468898.1_Silent_p.A215A|CNR1_ENST00000369501.2_Silent_p.A248A|CNR1_ENST00000369499.2_Silent_p.A248A|CNR1_ENST00000549890.1_Silent_p.A248A|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	248					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.A248A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAGGCAGCACGGCGATCACAA	0.532																																					p.A248A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	6						.						84.0	77.0	79.0					6																	88854250		2203	4300	6503	88910969	SO:0001819	synonymous_variant	1268	exon2			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.744C>T	6.37:g.88854250G>A			88910969	NM_001160259	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	CCDS5015.1																																																																																				0.532	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
GABRR1	2569	broad.mit.edu	37	6	89890095	89890095	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:89890095G>A	ENST00000454853.2	-	9	1172	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	GABRR1_ENST00000435811.1_Silent_p.F337F|GABRR1_ENST00000369451.3_Silent_p.F267F	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	354					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F348F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGAGGAACACGAACACAAAGC	0.577																																					p.F354F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	6						.						157.0	120.0	133.0					6																	89890095		2203	4300	6503	89946814	SO:0001819	synonymous_variant	2569	exon9				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1062C>T	6.37:g.89890095G>A			89946814	NM_002042	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	CCDS5019.2																																																																																				0.577	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		
GABRR1	2569	broad.mit.edu	37	6	89927009	89927009	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:89927009G>T	ENST00000454853.2	-	1	143	c.33C>A	c.(31-33)atC>atA	p.I11I	GABRR1_ENST00000481493.1_5'Flank|GABRR1_ENST00000435811.1_Silent_p.I11I|GABRR1_ENST00000369451.3_Intron	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	11					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.I5I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ACAAAAGAAAGATGCCAAATC	0.448																																					p.I11I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33A	6						.						72.0	66.0	68.0					6																	89927009		2203	4300	6503	89983728	SO:0001819	synonymous_variant	2569	exon1				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.33C>A	6.37:g.89927009G>T			89983728	NM_002042	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Silent	SNP	ENST00000454853.2	37	CCDS5019.2																																																																																				0.448	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		
GABRR2	2570	broad.mit.edu	37	6	89977750	89977750	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:89977750G>T	ENST00000402938.3	-	5	711	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.S218Y	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	193					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S193Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CAGCTCCAAAGAACAGGTCTG	0.473																																					p.S218Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C653A	6						.						103.0	90.0	94.0					6																	89977750		2203	4300	6503	90034469	SO:0001583	missense	2570	exon5				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.578C>A	6.37:g.89977750G>T	ENSP00000386029:p.Ser193Tyr		90034469	NM_002043	A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843729	0.91197	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.105102	0.64402	D	0.000002	T	0.68026	0.2956	L	0.54908	1.71	0.80722	D	1	D	0.53885	0.963	P	0.58266	0.836	T	0.63157	-0.6700	8	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	218	P28476	GBRR2_HUMAN	Y	218	.	.	S	-	2	0	GABRR2	90034469	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.776000	0.99001	2.808000	0.96608	0.655000	0.94253	TCT		0.473	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3		
ANKRD6	22881	broad.mit.edu	37	6	90315788	90315788	+	Silent	SNP	C	C	T	rs182815222		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90315788C>T	ENST00000522441.1	+	5	1022	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ANKRD6_ENST00000369408.5_Silent_p.L127L|ANKRD6_ENST00000447838.2_Silent_p.L127L|ANKRD6_ENST00000520793.1_Intron|ANKRD6_ENST00000485637.1_Silent_p.L127L|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000339746.4_Silent_p.L127L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	127					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L127L(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CCAAGCTGCTCATTAAAGCAG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		21846	0.001		0.0	False		,,,				2504	0.0				p.L127L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C381T	6						.						54.0	54.0	54.0					6																	90315788		2057	4194	6251	90372507	SO:0001819	synonymous_variant	22881	exon5			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.381C>T	6.37:g.90315788C>T			90372507	NM_014942	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	CCDS56441.1																																																																																				0.532	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1		
MDN1	23195	broad.mit.edu	37	6	90381987	90381987	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90381987A>C	ENST00000369393.3	-	82	13841	c.13726T>G	c.(13726-13728)Tct>Gct	p.S4576A	MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.S4576A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4576					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S4576A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAGATGGCAGAAATTATTTTC	0.478																																					p.S4576A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13726G	6						.						121.0	110.0	114.0					6																	90381987		2203	4300	6503	90438708	SO:0001583	missense	23195	exon82			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13726T>G	6.37:g.90381987A>C	ENSP00000358400:p.Ser4576Ala		90438708	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751342	0.49257	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	.	0.230014	0.38778	N	0.001572	T	0.14700	0.0355	M	0.63428	1.95	0.32818	D	0.502397	P	0.44006	0.824	B	0.34418	0.182	T	0.22208	-1.0223	10	0.12766	T	0.61	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	4576	Q9NU22	MDN1_HUMAN	A	4576	ENSP00000358400:S4576A;ENSP00000413970:S4576A	ENSP00000358400:S4576A	S	-	1	0	MDN1	90438708	1.000000	0.71417	0.968000	0.41197	0.906000	0.53458	5.131000	0.64751	2.324000	0.78689	0.533000	0.62120	TCT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90394621	90394621	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90394621G>A	ENST00000369393.3	-	71	11918	c.11803C>T	c.(11803-11805)Cgt>Tgt	p.R3935C	MDN1_ENST00000428876.1_Missense_Mutation_p.R3935C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3935					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R3935C(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGGGGAACGAAGTTCCACA	0.393																																					p.R3935C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11803T	6						.						53.0	56.0	55.0					6																	90394621		2203	4300	6503	90451342	SO:0001583	missense	23195	exon71			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11803C>T	6.37:g.90394621G>A	ENSP00000358400:p.Arg3935Cys		90451342	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407615	0.62399	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.53423	0.62;0.62	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72246	-0.4349	10	0.72032	D	0.01	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	3935	Q9NU22	MDN1_HUMAN	C	3935	ENSP00000358400:R3935C;ENSP00000413970:R3935C	ENSP00000358400:R3935C	R	-	1	0	MDN1	90451342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.272000	0.72575	2.783000	0.95769	0.655000	0.94253	CGT		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90403822	90403822	+	Silent	SNP	G	G	A	rs116213908		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90403822G>A	ENST00000369393.3	-	62	9967	c.9852C>T	c.(9850-9852)gtC>gtT	p.V3284V	MDN1_ENST00000428876.1_Silent_p.V3284V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3284					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.V3284V(2)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCTGACAACGACTTCATCTT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		22788	0.001		0.0	False		,,,				2504	0.0				p.V3284V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C9852T	6						.	G		0,4406		0,0,2203	179.0	140.0	153.0		9852	-6.4	0.0	6	dbSNP_132	153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MDN1	NM_014611.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3284/5597	90403822	1,13005	2203	4300	6503	90460543	SO:0001819	synonymous_variant	23195	exon62			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9852C>T	6.37:g.90403822G>A			90460543	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90406124	90406124	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90406124G>A	ENST00000369393.3	-	60	9453	c.9338C>T	c.(9337-9339)tCg>tTg	p.S3113L	MDN1_ENST00000428876.1_Missense_Mutation_p.S3113L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3113					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S3113L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCAAAGCATCGAACTGATGTC	0.512																																					p.S3113L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9338T	6						.						89.0	81.0	84.0					6																	90406124		2203	4300	6503	90462845	SO:0001583	missense	23195	exon60			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9338C>T	6.37:g.90406124G>A	ENSP00000358400:p.Ser3113Leu		90462845	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730536	0.30684	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	5.44	4.55	0.56014	.	0.214038	0.39083	N	0.001472	T	0.00845	0.0028	N	0.14661	0.345	0.35700	D	0.815532	B	0.11235	0.004	B	0.04013	0.001	T	0.41716	-0.9493	10	0.08599	T	0.76	.	13.3593	0.60646	0.0792:0.0:0.9208:0.0	.	3113	Q9NU22	MDN1_HUMAN	L	3113	ENSP00000358400:S3113L;ENSP00000413970:S3113L	ENSP00000358400:S3113L	S	-	2	0	MDN1	90462845	0.999000	0.42202	0.054000	0.19295	0.464000	0.32679	3.581000	0.53914	1.229000	0.43630	0.650000	0.86243	TCG		0.512	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T	rs200448957		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408																																					p.E2504K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7510A	6						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	151.0	154.0	153.0		7510	3.0	0.0	6		153	0,8600		0,0,4300	no	missense	MDN1	NM_014611.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2504/5597	90421896	1,13005	2203	4300	6503	90478617	SO:0001583	missense	23195	exon49			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7510G>A	6.37:g.90421896C>T	ENSP00000358400:p.Glu2504Lys		90478617	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870955	0.33069	2.27E-4	0.0	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.86	2.99	0.34606	.	0.415320	0.25860	N	0.027823	T	0.00815	0.0027	N	0.19112	0.55	0.26986	N	0.965244	B	0.21688	0.059	B	0.08055	0.003	T	0.47586	-0.9106	10	0.17369	T	0.5	.	11.2019	0.48747	0.0:0.6969:0.238:0.0651	.	2504	Q9NU22	MDN1_HUMAN	K	2504	ENSP00000358400:E2504K;ENSP00000413970:E2504K	ENSP00000358400:E2504K	E	-	1	0	MDN1	90478617	0.030000	0.19436	0.017000	0.16124	0.924000	0.55760	0.999000	0.29757	0.757000	0.33036	0.563000	0.77884	GAA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90440577	90440577	+	Missense_Mutation	SNP	T	T	C	rs552155845		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90440577T>C	ENST00000369393.3	-	35	5123	c.5008A>G	c.(5008-5010)Aag>Gag	p.K1670E	MDN1_ENST00000428876.1_Missense_Mutation_p.K1670E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1670					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K1670E(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAAGCCTCTTGATTAGAAAT	0.393																																					p.K1670E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5008G	6						.						110.0	103.0	105.0					6																	90440577		2203	4300	6503	90497298	SO:0001583	missense	23195	exon35			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5008A>G	6.37:g.90440577T>C	ENSP00000358400:p.Lys1670Glu		90497298	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	6.787	0.514219	0.12944	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03004	4.08;4.08	5.51	5.51	0.81932	.	0.175288	0.50627	D	0.000114	T	0.00637	0.0021	N	0.16066	0.365	0.33083	D	0.53694	B	0.15719	0.014	B	0.13407	0.009	T	0.47328	-0.9126	10	0.02654	T	1	.	5.9083	0.19014	0.0:0.2054:0.0:0.7946	.	1670	Q9NU22	MDN1_HUMAN	E	1670	ENSP00000358400:K1670E;ENSP00000413970:K1670E	ENSP00000358400:K1670E	K	-	1	0	MDN1	90497298	0.933000	0.31639	0.995000	0.50966	0.276000	0.26787	1.062000	0.30555	2.086000	0.62901	0.477000	0.44152	AAG		0.393	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90481315	90481315	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90481315C>A	ENST00000369393.3	-	15	2224	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	MDN1_ENST00000428876.1_Missense_Mutation_p.M703I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	703					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.M703I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGTTGATTCATATTGACAA	0.348																																					p.M703I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2109T	6						.						116.0	110.0	112.0					6																	90481315		2203	4300	6503	90538036	SO:0001583	missense	23195	exon15			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2109G>T	6.37:g.90481315C>A	ENSP00000358400:p.Met703Ile		90538036	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894822	0.72639	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.41065	1.01;1.01;1.01	5.4	5.4	0.78164	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	L	0.40543	1.245	0.80722	D	1	D;P	0.63880	0.993;0.88	D;P	0.67103	0.949;0.876	T	0.47649	-0.9101	10	0.56958	D	0.05	.	19.5833	0.95478	0.0:1.0:0.0:0.0	.	630;703	Q5T795;Q9NU22	.;MDN1_HUMAN	I	703;703;630	ENSP00000358400:M703I;ENSP00000413970:M703I;ENSP00000409664:M630I	ENSP00000358400:M703I	M	-	3	0	MDN1	90538036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.858000	0.75461	2.699000	0.92147	0.637000	0.83480	ATG		0.348	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90503860	90503860	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90503860C>A	ENST00000369393.3	-	4	736	c.621G>T	c.(619-621)aaG>aaT	p.K207N	MDN1_ENST00000428876.1_Missense_Mutation_p.K207N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	207					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K207N(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAAATATCTTCTTAAGAAATG	0.328																																					p.K207N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G621T	6						.						61.0	64.0	63.0					6																	90503860		2203	4300	6503	90560581	SO:0001583	missense	23195	exon4			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.621G>T	6.37:g.90503860C>A	ENSP00000358400:p.Lys207Asn		90560581	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736065	0.30774	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.28666	1.6;1.6;1.6	5.32	4.46	0.54185	.	0.229124	0.42682	D	0.000663	T	0.11067	0.0270	N	0.24115	0.695	0.37019	D	0.896129	B;B	0.28552	0.215;0.08	B;B	0.28784	0.094;0.029	T	0.05084	-1.0907	10	0.41790	T	0.15	.	13.9464	0.64086	0.0:0.9268:0.0:0.0732	.	207;207	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	N	207	ENSP00000358400:K207N;ENSP00000413970:K207N;ENSP00000409664:K207N	ENSP00000358400:K207N	K	-	3	2	MDN1	90560581	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.268000	0.58883	1.243000	0.43853	-0.262000	0.10625	AAG		0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90571915	90571915	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90571915G>T	ENST00000551025.1	+	0	1924									caspase 8 associated protein 2									p.D163Y(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACAAAAGATCTTAAATC	0.299																																					p.D163Y	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487T	6						.						73.0	67.0	69.0					6																	90571915		1825	4087	5912	90628636			9994	exon7			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90571915G>T			90628636	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.299	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
CASP8AP2	9994	broad.mit.edu	37	6	90572336	90572336	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90572336C>T	ENST00000551025.1	+	0	2345									caspase 8 associated protein 2									p.S303L(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGCAAAAGTTCGAAGTTTAAA	0.423																																					p.S303L	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C908T	6						.						127.0	130.0	129.0					6																	90572336		1872	4118	5990	90629057			9994	exon7			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572336C>T			90629057	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
CASP8AP2	9994	broad.mit.edu	37	6	90578192	90578192	+	RNA	SNP	C	C	A	rs377357235		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90578192C>A	ENST00000551025.1	+	0	6620									caspase 8 associated protein 2									p.S1728Y(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTAGACAATTCTTTGCAGGCT	0.373																																					p.S1728Y	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5183A	6						.	C	TYR/SER,TYR/SER,TYR/SER	1,3725		0,1,1862	81.0	75.0	77.0		5183,5183,5183	3.3	0.9	6		77	0,8192		0,0,4096	no	missense,missense,missense	CASP8AP2	NM_001137667.1,NM_001137668.1,NM_012115.3	144,144,144	0,1,5958	AA,AC,CC		0.0,0.0268,0.0084	possibly-damaging,possibly-damaging,possibly-damaging	1728/1967,1728/1967,1728/1967	90578192	1,11917	1863	4096	5959	90634913			9994	exon8			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578192C>A			90634913	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.373	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
GJA10	84694	broad.mit.edu	37	6	90604651	90604651	+	Missense_Mutation	SNP	G	G	A	rs150298953		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90604651G>A	ENST00000369352.1	+	1	464	c.464G>A	c.(463-465)cGt>cAt	p.R155H		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	155					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R155H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGTCTGCTGCGTACTTATGTC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20784	0.001		0.0	False		,,,				2504	0.0				p.R155H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	6						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	126.0	128.0		464	3.1	1.0	6	dbSNP_134	128	0,8600		0,0,4300	yes	missense	GJA10	NM_032602.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	155/544	90604651	1,13005	2203	4300	6503	90661372	SO:0001583	missense	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.464G>A	6.37:g.90604651G>A	ENSP00000358358:p.Arg155His		90661372	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002443	0.74932	2.27E-4	0.0	ENSG00000135355	ENST00000369352	D	0.97906	-4.6	4.91	3.14	0.36123	.	0.117649	0.64402	D	0.000011	D	0.97235	0.9096	M	0.62723	1.935	0.45704	D	0.998613	D	0.89917	1.0	D	0.71184	0.972	D	0.95831	0.8858	10	0.34782	T	0.22	.	11.3055	0.49332	0.1479:0.0:0.8521:0.0	.	155	Q969M2	CXA10_HUMAN	H	155	ENSP00000358358:R155H	ENSP00000358358:R155H	R	+	2	0	GJA10	90661372	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	5.475000	0.66787	0.684000	0.31448	0.563000	0.77884	CGT		0.438	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
GJA10	84694	broad.mit.edu	37	6	90605388	90605388	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90605388G>T	ENST00000369352.1	+	1	1201	c.1201G>T	c.(1201-1203)Gat>Tat	p.D401Y	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	188					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.D401Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCCTCTCACAGATCTTCATAG	0.552																																					p.D401Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1201T	6						.						72.0	72.0	72.0					6																	90605388		2203	4300	6503	90662109	SO:0001583	missense	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1201G>T	6.37:g.90605388G>T	ENSP00000358358:p.Asp401Tyr		90662109	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742826	0.89573	.	.	ENSG00000135355	ENST00000369352	D	0.98792	-5.14	5.6	4.68	0.58851	.	1.492200	0.03891	N	0.278628	D	0.98327	0.9445	M	0.61703	1.905	0.36407	D	0.863484	D	0.56521	0.976	P	0.53185	0.72	D	0.93682	0.6999	10	0.62326	D	0.03	.	14.2298	0.65885	0.0:0.0:0.8501:0.1499	.	401	Q969M2	CXA10_HUMAN	Y	401	ENSP00000358358:D401Y	ENSP00000358358:D401Y	D	+	1	0	GJA10	90662109	0.010000	0.17322	0.684000	0.30055	0.430000	0.31655	1.461000	0.35255	2.652000	0.90054	0.563000	0.77884	GAT		0.552	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
GJA10	84694	broad.mit.edu	37	6	90605508	90605508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:90605508C>T	ENST00000369352.1	+	1	1321	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R441*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTCTGAAAAGCGACATCTGCA	0.532																																					p.R441X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1321T	6						.						123.0	119.0	120.0					6																	90605508		2203	4300	6503	90662229	SO:0001587	stop_gained	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1321C>T	6.37:g.90605508C>T	ENSP00000358358:p.Arg441*		90662229	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970792	0.92919	.	.	ENSG00000135355	ENST00000369352	.	.	.	4.92	4.05	0.47172	.	1.180480	0.06368	N	0.713024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	8.5486	0.33438	0.0854:0.3947:0.5199:0.0	.	.	.	.	X	441	.	ENSP00000358358:R441X	R	+	1	2	GJA10	90662229	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	1.399000	0.34566	1.201000	0.43203	-0.344000	0.07964	CGA		0.532	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
MAP3K7	6885	broad.mit.edu	37	6	91256990	91256990	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:91256990G>A	ENST00000369329.3	-	11	1358	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	MAP3K7_ENST00000369320.1_Silent_p.I80I|MAP3K7_ENST00000369327.3_Silent_p.I399I|MAP3K7_ENST00000369332.3_Silent_p.I399I|MAP3K7_ENST00000369325.3_Silent_p.I399I	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	399					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.I399I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGGTTGCGGCGATCCTAGCTT	0.473																																					p.I399I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1197T	6						.						195.0	197.0	196.0					6																	91256990		2203	4300	6503	91313711	SO:0001819	synonymous_variant	6885	exon11			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1197C>T	6.37:g.91256990G>A			91313711	NM_145333	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	CCDS5028.1																																																																																				0.473	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
MAP3K7	6885	broad.mit.edu	37	6	91257801	91257801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:91257801C>A	ENST00000369329.3	-	10	1206	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	MAP3K7_ENST00000369320.1_Nonsense_Mutation_p.E30*|MAP3K7_ENST00000369327.3_Nonsense_Mutation_p.E349*|MAP3K7_ENST00000369332.3_Nonsense_Mutation_p.E349*|MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.E349*	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	349					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E349*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AATTTTGATTCTAAGCGCTTA	0.348																																					p.E349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1045T	6						.						163.0	157.0	159.0					6																	91257801		2203	4299	6502	91314522	SO:0001587	stop_gained	6885	exon10			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1045G>T	6.37:g.91257801C>A	ENSP00000358335:p.Glu349*		91314522	NM_145333	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	37	6.282638	0.97440	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	.	.	.	6.07	6.07	0.98685	.	0.100388	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	349;349;349;349;30;276	.	ENSP00000358326:E30X	E	-	1	0	MAP3K7	91314522	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.474000	0.60203	2.890000	0.99128	0.585000	0.79938	GAA		0.348	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
MAP3K7	6885	broad.mit.edu	37	6	91281450	91281450	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:91281450T>C	ENST00000369329.3	-	2	358	c.197A>G	c.(196-198)gAa>gGa	p.E66G	MAP3K7_ENST00000369327.3_Missense_Mutation_p.E66G|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E66G|MAP3K7_ENST00000369325.3_Missense_Mutation_p.E66G	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	66	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E66G(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGATTCACTTTCTATTTGTTT	0.333																																					p.E66G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A197G	6						.						155.0	141.0	146.0					6																	91281450		2203	4299	6502	91338171	SO:0001583	missense	6885	exon2			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.197A>G	6.37:g.91281450T>C	ENSP00000358335:p.Glu66Gly		91338171	NM_145333	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726924	0.69074	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	N	0.26042	0.785	0.80722	D	1	P;B;D;B	0.59357	0.87;0.133;0.985;0.307	B;B;P;B	0.55615	0.244;0.064;0.78;0.106	T	0.79115	-0.1936	10	0.38643	T	0.18	.	15.7394	0.77876	0.0:0.0:0.0:1.0	.	66;66;66;66	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	G	66	ENSP00000358338:E66G;ENSP00000358335:E66G;ENSP00000358331:E66G;ENSP00000358333:E66G	ENSP00000358331:E66G	E	-	2	0	MAP3K7	91338171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.789000	0.85783	2.122000	0.65172	0.455000	0.32223	GAA		0.333	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
EPHA7	2045	broad.mit.edu	37	6	93956553	93956553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:93956553G>A	ENST00000369303.4	-	15	2867	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	895					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R895*(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGGTTTCGAATCATTTTG	0.413																																					p.R895X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2683T	6						.						135.0	129.0	131.0					6																	93956553		2203	4300	6503	94013274	SO:0001587	stop_gained	2045	exon15			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2683C>T	6.37:g.93956553G>A	ENSP00000358309:p.Arg895*		94013274	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Nonsense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	40	8.444810	0.98815	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.74	2.52	0.30459	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5944	0.84792	0.0:0.0:0.609:0.391	.	.	.	.	X	895	.	ENSP00000358309:R895X	R	-	1	2	EPHA7	94013274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.145000	0.50623	0.700000	0.31782	0.591000	0.81541	CGA		0.413	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
FUT9	10690	broad.mit.edu	37	6	96651688	96651688	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:96651688G>A	ENST00000302103.5	+	3	983	c.657G>A	c.(655-657)ggG>ggA	p.G219G		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	219					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.G219G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATACCTACGGGCAAGCATTTG	0.363																																					p.G219G	Melanoma(98;1369 1476 6592 22940 26587)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	6						.						53.0	52.0	53.0					6																	96651688		2203	4300	6503	96758409	SO:0001819	synonymous_variant	10690	exon3			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.657G>A	6.37:g.96651688G>A			96758409	NM_006581	Q5T0W4	Silent	SNP	ENST00000302103.5	37	CCDS5033.1																																																																																				0.363	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581	
UFL1	23376	broad.mit.edu	37	6	96990864	96990864	+	Missense_Mutation	SNP	T	T	G	rs144746493		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:96990864T>G	ENST00000369278.4	+	12	1440	c.1374T>G	c.(1372-1374)agT>agG	p.S458R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	458					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.S458R(1)									ATGATGATAGTGATGATGAAT	0.383																																					p.S458R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1374G	6						.						100.0	98.0	99.0					6																	96990864		2203	4300	6503	97097585	SO:0001583	missense	23376	exon12			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1374T>G	6.37:g.96990864T>G	ENSP00000358283:p.Ser458Arg		97097585	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	T	8.507	0.865650	0.17250	.	.	ENSG00000014123	ENST00000369278	T	0.49432	0.78	5.92	2.33	0.28932	.	0.171277	0.64402	D	0.000003	T	0.20414	0.0491	L	0.60455	1.87	0.51012	D	0.999908	B	0.34103	0.437	B	0.29942	0.109	T	0.04029	-1.0983	10	0.21014	T	0.42	-3.417	8.6607	0.34091	0.0:0.2163:0.0:0.7837	.	458	O94874	UFL1_HUMAN	R	458	ENSP00000358283:S458R	ENSP00000358283:S458R	S	+	3	2	KIAA0776	97097585	0.997000	0.39634	1.000000	0.80357	0.145000	0.21501	0.281000	0.18810	0.502000	0.28037	0.533000	0.62120	AGT		0.383	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
UFL1	23376	broad.mit.edu	37	6	96997643	96997643	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:96997643G>A	ENST00000369278.4	+	15	1852	c.1786G>A	c.(1786-1788)Gca>Aca	p.A596T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	596					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.A596T(1)									TTTAATGATGGCAGTAGACGA	0.383																																					p.A596T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1786A	6						.						139.0	123.0	129.0					6																	96997643		2203	4300	6503	97104364	SO:0001583	missense	23376	exon15			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1786G>A	6.37:g.96997643G>A	ENSP00000358283:p.Ala596Thr		97104364	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697285	0.48202	.	.	ENSG00000014123	ENST00000369278	T	0.46063	0.88	5.64	4.76	0.60689	.	0.153604	0.64402	D	0.000014	T	0.12220	0.0297	L	0.28740	0.885	0.44899	D	0.997919	B	0.24721	0.11	B	0.16722	0.016	T	0.08207	-1.0733	10	0.15499	T	0.54	-12.7801	8.5182	0.33259	0.0834:0.0:0.7608:0.1559	.	596	O94874	UFL1_HUMAN	T	596	ENSP00000358283:A596T	ENSP00000358283:A596T	A	+	1	0	KIAA0776	97104364	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.819000	0.39022	1.350000	0.45770	0.655000	0.94253	GCA		0.383	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
FHL5	9457	broad.mit.edu	37	6	97063641	97063641	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:97063641A>C	ENST00000326771.2	+	7	1228	c.848A>C	c.(847-849)gAc>gCc	p.D283A	FHL5_ENST00000541107.1_Missense_Mutation_p.D283A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	283	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D283A(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ATGGACACTGACATCTAGGAG	0.448																																					p.D283A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A848C	6						.						71.0	67.0	68.0					6																	97063641		2203	4300	6503	97170362	SO:0001583	missense	9457	exon6			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.848A>C	6.37:g.97063641A>C	ENSP00000326022:p.Asp283Ala		97170362	NM_001170807	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590306	0.46214	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	T;T	0.58060	0.36;0.36	5.12	3.97	0.46021	Zinc finger, LIM-type (1);	0.000000	0.42548	D	0.000681	T	0.16557	0.0398	N	0.14661	0.345	0.31106	N	0.71048	B	0.23377	0.084	B	0.17979	0.02	T	0.07849	-1.0751	10	0.87932	D	0	.	8.4933	0.33112	0.9119:0.0:0.0881:0.0	.	283	Q5TD97	FHL5_HUMAN	A	283	ENSP00000442357:D283A;ENSP00000326022:D283A	ENSP00000326022:D283A	D	+	2	0	FHL5	97170362	1.000000	0.71417	0.190000	0.23270	0.021000	0.10359	2.727000	0.47311	0.974000	0.38366	-0.256000	0.11100	GAC		0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482	
GPR63	81491	broad.mit.edu	37	6	97246362	97246362	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:97246362G>A	ENST00000229955.3	-	2	1591	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.R416W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	416						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.R416W(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACCACCGTCCGATGTTCCCCA	0.458																																					p.R416W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1246T	6						.						143.0	116.0	125.0					6																	97246362		2203	4300	6503	97353083	SO:0001583	missense	81491	exon3			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.1246C>T	6.37:g.97246362G>A	ENSP00000229955:p.Arg416Trp		97353083	NM_001143957	Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456555	0.63401	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.63580	-0.05;-0.05;-0.05	5.35	3.42	0.39159	.	0.000000	0.64402	D	0.000001	T	0.56093	0.1962	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.65063	-0.6259	10	0.87932	D	0	-7.7627	13.2629	0.60115	0.0:0.0:0.5948:0.4051	.	416	Q9BZJ6	GPR63_HUMAN	W	440;416;416;416	ENSP00000393170:R416W;ENSP00000229955:R416W;ENSP00000358273:R416W	ENSP00000229955:R416W	R	-	1	2	GPR63	97353083	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.194000	0.65125	1.373000	0.46208	0.650000	0.86243	CGG		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2		
GPR63	81491	broad.mit.edu	37	6	97246901	97246901	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:97246901T>G	ENST00000229955.3	-	2	1052	c.707A>C	c.(706-708)aAt>aCt	p.N236T	GPR63_ENST00000417980.1_Missense_Mutation_p.N236T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.N236T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTAGCCTGGATTGGTTGTGTA	0.458																																					p.N236T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A707C	6						.						78.0	83.0	81.0					6																	97246901		2203	4300	6503	97353622	SO:0001583	missense	81491	exon3			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.707A>C	6.37:g.97246901T>G	ENSP00000229955:p.Asn236Thr		97353622	NM_001143957	Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	2.300	-0.360312	0.05103	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.33438	1.41;1.41;1.41	5.2	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.405452	0.26532	N	0.023854	T	0.11196	0.0273	L	0.57536	1.79	0.09310	N	1	B	0.14805	0.011	B	0.23852	0.049	T	0.32929	-0.9888	10	0.21540	T	0.41	-5.6066	7.9392	0.29948	0.0:0.2967:0.0:0.7033	.	236	Q9BZJ6	GPR63_HUMAN	T	260;236;236;236	ENSP00000393170:N236T;ENSP00000229955:N236T;ENSP00000358273:N236T	ENSP00000229955:N236T	N	-	2	0	GPR63	97353622	0.404000	0.25328	0.002000	0.10522	0.942000	0.58702	2.529000	0.45632	0.399000	0.25367	-0.256000	0.11100	AAT		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2		
KLHL32	114792	broad.mit.edu	37	6	97561953	97561953	+	Missense_Mutation	SNP	C	C	T	rs35641414		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:97561953C>T	ENST00000369261.4	+	7	1285	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KLHL32_ENST00000539200.1_Missense_Mutation_p.R239W|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.R272W	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	308								p.R308W(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAAGGAACTTCGGTACTTCAA	0.527																																					p.R308W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922T	6						.						80.0	80.0	80.0					6																	97561953		2203	4300	6503	97668674	SO:0001583	missense	114792	exon7			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.922C>T	6.37:g.97561953C>T	ENSP00000358265:p.Arg308Trp		97668674	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243638	0.79912	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.66280	-0.2;-0.2;-0.2	5.5	5.5	0.81552	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	L	0.42245	1.32	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.033;1.0	D;D;B;D	0.81914	0.93;0.993;0.003;0.995	T	0.69412	-0.5152	10	0.87932	D	0	.	14.4399	0.67309	0.1471:0.8529:0.0:0.0	.	239;272;308;308	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	W	308;272;239	ENSP00000358265:R308W;ENSP00000440382:R272W;ENSP00000441527:R239W	ENSP00000358265:R308W	R	+	1	2	KLHL32	97668674	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	5.439000	0.66556	2.854000	0.98071	0.655000	0.94253	CGG		0.527	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
MMS22L	253714	broad.mit.edu	37	6	97715856	97715856	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:97715856C>T	ENST00000275053.4	-	8	985	c.720G>A	c.(718-720)caG>caA	p.Q240Q	MMS22L_ENST00000369251.2_Silent_p.Q240Q|MMS22L_ENST00000506256.1_5'UTR	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	240					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.Q240Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTCATAAACTGATGACCAT	0.308																																					p.Q240Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	6						.						76.0	72.0	73.0					6																	97715856		2203	4299	6502	97822577	SO:0001819	synonymous_variant	253714	exon8				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.720G>A	6.37:g.97715856C>T			97822577	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	CCDS5039.1																																																																																				0.308	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
POU3F2	5454	broad.mit.edu	37	6	99283719	99283719	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99283719C>T	ENST00000328345.5	+	1	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	324	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L324L(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CATGTGCAAGCTGAAGCCTTT	0.587																																					p.L324L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C970T	6						.						135.0	137.0	136.0					6																	99283719		2203	4300	6503	99390440	SO:0001819	synonymous_variant	5454	exon1			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.970C>T	6.37:g.99283719C>T			99390440	NM_005604	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																				0.587	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
POU3F2	5454	broad.mit.edu	37	6	99283793	99283793	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99283793C>T	ENST00000328345.5	+	1	1214	c.1044C>T	c.(1042-1044)atC>atT	p.I348I		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	348					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I348I(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TAGACAAGATCGCAGCGCAAG	0.592																																					p.I348I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	6						.						84.0	92.0	89.0					6																	99283793		2203	4300	6503	99390514	SO:0001819	synonymous_variant	5454	exon1			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.1044C>T	6.37:g.99283793C>T			99390514	NM_005604	Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	CCDS5040.1																																																																																				0.592	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2		
FBXL4	26235	broad.mit.edu	37	6	99323498	99323498	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99323498C>A	ENST00000369244.2	-	9	1923	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	FBXL4_ENST00000229971.1_Nonsense_Mutation_p.E499*	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	499					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.E499*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GAAGCCAGTTCTGCTATTCCA	0.507																																					p.E499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1495T	6						.						85.0	83.0	84.0					6																	99323498		2203	4300	6503	99430219	SO:0001587	stop_gained	26235	exon8			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1495G>T	6.37:g.99323498C>A	ENSP00000358247:p.Glu499*		99430219	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Nonsense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	40	8.468081	0.98825	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	.	.	.	5.82	4.9	0.64082	.	0.044485	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.388	0.83522	0.0:0.8684:0.1316:0.0	.	.	.	.	X	499	.	ENSP00000229971:E499X	E	-	1	0	FBXL4	99430219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.550000	0.67268	2.754000	0.94517	0.591000	0.81541	GAA		0.507	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
FAXC	84553	broad.mit.edu	37	6	99739652	99739652	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99739652C>T	ENST00000389677.5	-	5	1150	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	FAXC_ENST00000538471.1_Missense_Mutation_p.A10T	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	290						integral component of membrane (GO:0016021)		p.A290T(1)									AAGACAGTGGCGTCAAGAGTG	0.512																																					p.A290T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	6						.						191.0	176.0	181.0					6																	99739652		2203	4300	6503	99846373	SO:0001583	missense	84553	exon5			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.868G>A	6.37:g.99739652C>T	ENSP00000374328:p.Ala290Thr		99846373	NM_032511	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348593	0.95807	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	T;T	0.50548	0.74;0.74	5.87	5.87	0.94306	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.71560	-0.4556	10	0.62326	D	0.03	-21.4558	17.99	0.89165	0.0:1.0:0.0:0.0	.	290	Q5TGI0	CF168_HUMAN	T	290;10	ENSP00000374328:A290T;ENSP00000445267:A10T	ENSP00000374328:A290T	A	-	1	0	C6orf168	99846373	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	7.137000	0.77295	2.774000	0.95407	0.643000	0.83706	GCC		0.512	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511	
FAXC	84553	broad.mit.edu	37	6	99790884	99790884	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99790884C>T	ENST00000389677.5	-	2	574	c.292G>A	c.(292-294)Gat>Aat	p.D98N	FAXC_ENST00000538471.1_5'Flank	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	98						integral component of membrane (GO:0016021)		p.D98N(1)									ATAATAGCATCTTTAGAGTCA	0.358																																					p.D98N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	6						.						145.0	127.0	133.0					6																	99790884		2203	4300	6503	99897605	SO:0001583	missense	84553	exon2			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.292G>A	6.37:g.99790884C>T	ENSP00000374328:p.Asp98Asn		99897605	NM_032511	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634299	0.87660	.	.	ENSG00000146267	ENST00000389677	.	.	.	5.6	4.74	0.60224	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.67397	2.05	0.80722	D	1	P	0.51537	0.946	P	0.53313	0.723	T	0.56890	-0.7904	9	0.33141	T	0.24	-12.6342	14.4026	0.67060	0.0:0.929:0.0:0.071	.	98	Q5TGI0	CF168_HUMAN	N	98	.	ENSP00000374328:D98N	D	-	1	0	C6orf168	99897605	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	1.379000	0.46325	0.655000	0.94253	GAT		0.358	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511	
PNISR	25957	broad.mit.edu	37	6	99849089	99849089	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:99849089A>T	ENST00000369239.5	-	12	1949	c.1745T>A	c.(1744-1746)aTa>aAa	p.I582K	PNISR_ENST00000438806.1_Missense_Mutation_p.I582K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	582						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I582K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATTGCTCTCTATTTTAATTCT	0.403																																					p.I582K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1745A	6						.						115.0	121.0	119.0					6																	99849089		2203	4300	6503	99955810	SO:0001583	missense	25957	exon11			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1745T>A	6.37:g.99849089A>T	ENSP00000358242:p.Ile582Lys		99955810	NM_015491	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	A	3.210	-0.161857	0.06502	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.49	1.65	0.23941	.	0.460942	0.22918	N	0.054055	T	0.10852	0.0265	N	0.14661	0.345	0.37544	D	0.918437	B	0.06786	0.001	B	0.04013	0.001	T	0.25117	-1.0141	9	0.05436	T	0.98	.	8.1264	0.31001	0.4017:0.5137:0.0846:0.0	.	582	Q8TF01	PNISR_HUMAN	K	582	.	ENSP00000358242:I582K	I	-	2	0	PNISR	99955810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.983000	0.49345	1.004000	0.39156	0.472000	0.43445	ATA		0.403	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870	
PDCD2	5134	broad.mit.edu	37	6	170886650	170886650	+	Silent	SNP	C	C	T	rs377450946		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:170886650C>T	ENST00000541970.1	-	6	1110	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	PDCD2_ENST00000392090.2_Silent_p.P311P	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	344					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.P344P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		GATGCCTTTACGGTGTATCTG	0.398																																					p.P344P	Colon(60;1476 1726 39478)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1032A	6						.	C	,	2,4404	4.2+/-10.8	0,2,2201	77.0	74.0	75.0		933,1032	-8.6	0.0	6		75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PDCD2	NM_001199462.1,NM_002598.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	311/312,344/345	170886650	2,13004	2203	4300	6503	170728575	SO:0001819	synonymous_variant	5134	exon6			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.1032G>A	6.37:g.170886650C>T			170728575	NM_002598	E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Silent	SNP	ENST00000541970.1	37	CCDS5316.1																																																																																				0.398	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598	
MYH13	8735	broad.mit.edu	37	17	10219309	10219309	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10219309C>A	ENST00000418404.3	-	27	3935	c.3772G>T	c.(3772-3774)Gat>Tat	p.D1258Y	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D1258Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1258					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1258Y(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTAAATTGATCTTCTACCGTC	0.423																																					p.D1258Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3772T	17						.						184.0	175.0	178.0					17																	10219309		1964	4149	6113	10160034	SO:0001583	missense	8735	exon28			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3772G>T	17.37:g.10219309C>A	ENSP00000404570:p.Asp1258Tyr		10160034	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951541	0.73787	.	.	ENSG00000006788	ENST00000252172	D	0.83992	-1.79	4.36	4.36	0.52297	Myosin tail (1);	.	.	.	.	D	0.93259	0.7852	M	0.93241	3.395	0.51767	D	0.999939	D	0.89917	1.0	D	0.81914	0.995	D	0.95298	0.8401	9	0.87932	D	0	.	17.2531	0.87048	0.0:1.0:0.0:0.0	.	1258	Q9UKX3	MYH13_HUMAN	Y	1258	ENSP00000252172:D1258Y	ENSP00000252172:D1258Y	D	-	1	0	MYH13	10160034	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	7.682000	0.84083	2.124000	0.65301	0.551000	0.68910	GAT		0.423	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10222241	10222241	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10222241C>A	ENST00000418404.3	-	26	3767	c.3604G>T	c.(3604-3606)Gat>Tat	p.D1202Y	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D1202Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1202					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D1202Y(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCACACTATCTGCTTGCTTC	0.572																																					p.D1202Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3604T	17						.						120.0	114.0	116.0					17																	10222241		2203	4300	6503	10162966	SO:0001583	missense	8735	exon27			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3604G>T	17.37:g.10222241C>A	ENSP00000404570:p.Asp1202Tyr		10162966	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228504	0.58777	.	.	ENSG00000006788	ENST00000252172	T	0.80738	-1.41	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.93314	0.7869	H	0.97587	4.035	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.95885	0.8902	9	0.87932	D	0	.	16.7633	0.85517	0.0:1.0:0.0:0.0	.	1202	Q9UKX3	MYH13_HUMAN	Y	1202	ENSP00000252172:D1202Y	ENSP00000252172:D1202Y	D	-	1	0	MYH13	10162966	1.000000	0.71417	0.996000	0.52242	0.272000	0.26649	5.865000	0.69583	2.236000	0.73375	0.591000	0.81541	GAT		0.572	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10231268	10231268	+	Missense_Mutation	SNP	C	C	T	rs147387198	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10231268C>T	ENST00000418404.3	-	21	2769	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R869Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	869					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R869Q(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCCTCAGATCGGGCCAGTTC	0.532											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	8	0.00159744	0.0015	0.0086	5008	,	,		19217	0.0		0.0	False		,,,				2504	0.0				p.R869Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2606A	17						.	C	GLN/ARG	0,4386		0,0,2193	73.0	76.0	75.0		2606	0.9	1.0	17	dbSNP_134	75	5,8591	4.3+/-15.6	0,5,4293	yes	missense	MYH13	NM_003802.2	43	0,5,6486	TT,TC,CC		0.0582,0.0,0.0385	benign	869/1939	10231268	5,12977	2193	4298	6491	10171993	SO:0001583	missense	8735	exon22			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2606G>A	17.37:g.10231268C>T	ENSP00000404570:p.Arg869Gln	663	10171993	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	5	0.0022893772893772895	2	0.0040650406504065045	3	0.008287292817679558	0	0.0	0	0.0	C	11.95	1.792893	0.31685	0.0	5.82E-4	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.82803	-1.65	4.01	0.889	0.19212	.	.	.	.	.	T	0.65852	0.2731	L	0.41632	1.29	0.26565	N	0.973663	B	0.17465	0.022	B	0.20577	0.03	T	0.61903	-0.6967	9	0.72032	D	0.01	.	2.8434	0.05536	0.0:0.3634:0.2358:0.4008	.	869	Q9UKX3	MYH13_HUMAN	Q	869;544	ENSP00000252172:R869Q	ENSP00000252172:R869Q	R	-	2	0	MYH13	10171993	0.558000	0.26554	0.983000	0.44433	0.272000	0.26649	0.987000	0.29603	0.461000	0.27071	0.563000	0.77884	CGA		0.532	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10243705	10243705	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10243705T>C	ENST00000418404.3	-	16	2071	c.1908A>G	c.(1906-1908)ggA>ggG	p.G636G	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.G636G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	636	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.G636G(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTTGCTTCCTCCGGAGT	0.562																																					p.G636G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1908G	17						.						57.0	63.0	61.0					17																	10243705		2013	4181	6194	10184430	SO:0001819	synonymous_variant	8735	exon17			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1908A>G	17.37:g.10243705T>C			10184430	NM_003802	O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.562	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10258071	10258071	+	Missense_Mutation	SNP	C	C	T	rs371327620		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10258071C>T	ENST00000418404.3	-	10	1094	c.931G>A	c.(931-933)Gac>Aac	p.D311N	MYH13_ENST00000252172.4_Missense_Mutation_p.D311N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	311	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D311N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGGGGAAGTCGAAGGGGTTG	0.458																																					p.D311N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G931A	17						.	C	ASN/ASP	2,3890		0,2,1944	107.0	108.0	108.0		931	3.7	1.0	17		108	0,8278		0,0,4139	no	missense	MYH13	NM_003802.2	23	0,2,6083	TT,TC,CC		0.0,0.0514,0.0164	probably-damaging	311/1939	10258071	2,12168	1946	4139	6085	10198796	SO:0001583	missense	8735	exon11			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.931G>A	17.37:g.10258071C>T	ENSP00000404570:p.Asp311Asn		10198796	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060602	0.93846	5.14E-4	0.0	ENSG00000006788	ENST00000252172	D	0.87412	-2.25	3.72	3.72	0.42706	Myosin head, motor domain (2);	.	.	.	.	D	0.93419	0.7901	M	0.84219	2.685	0.48632	D	0.999683	D	0.89917	1.0	D	0.79784	0.993	D	0.94690	0.7873	9	0.87932	D	0	.	16.0467	0.80725	0.0:1.0:0.0:0.0	.	311	Q9UKX3	MYH13_HUMAN	N	311	ENSP00000252172:D311N	ENSP00000252172:D311N	D	-	1	0	MYH13	10198796	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.492000	0.81482	2.080000	0.62538	0.655000	0.94253	GAC		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH8	4626	broad.mit.edu	37	17	10298701	10298701	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10298701C>A	ENST00000403437.2	-	34	4805	c.4711G>T	c.(4711-4713)Gtc>Ttc	p.V1571F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1571					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V1571F(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCAGACTTGACTTGGTTTAAC	0.408									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.V1571F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4711T	17						.						113.0	97.0	103.0					17																	10298701		2203	4300	6503	10239426	SO:0001583	missense	4626	exon34	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4711G>T	17.37:g.10298701C>A	ENSP00000384330:p.Val1571Phe		10239426	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957384	0.53400	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79141	-1.24	4.85	4.85	0.62838	Myosin tail (1);	0.000000	0.37577	U	0.002025	T	0.75613	0.3873	L	0.48362	1.52	0.50039	D	0.999849	B	0.15141	0.012	B	0.26693	0.072	T	0.73962	-0.3817	10	0.87932	D	0	.	18.168	0.89734	0.0:1.0:0.0:0.0	.	1571	P13535	MYH8_HUMAN	F	1571	ENSP00000384330:V1571F	ENSP00000252173:V1571F	V	-	1	0	MYH8	10239426	0.222000	0.23652	1.000000	0.80357	0.980000	0.70556	0.178000	0.16820	2.521000	0.84997	0.650000	0.86243	GTC		0.408	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10304365	10304365	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10304365T>G	ENST00000403437.2	-	25	3346	c.3252A>C	c.(3250-3252)gaA>gaC	p.E1084D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1084					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1084D(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCCTACTTTTCAAGCTTTT	0.363									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.E1084D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3252C	17						.						128.0	123.0	125.0					17																	10304365		2202	4300	6502	10245090	SO:0001583	missense	4626	exon25	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3252A>C	17.37:g.10304365T>G	ENSP00000384330:p.Glu1084Asp		10245090	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.125459	0.37533	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83163	-1.69	5.49	4.42	0.53409	Myosin tail (1);	0.152818	0.29480	U	0.012026	T	0.65678	0.2714	N	0.08118	0	0.22213	N	0.999281	B	0.09022	0.002	B	0.08055	0.003	T	0.58679	-0.7594	10	0.87932	D	0	.	7.4734	0.27361	0.0:0.2054:0.0:0.7946	.	1084	P13535	MYH8_HUMAN	D	1084	ENSP00000384330:E1084D	ENSP00000252173:E1084D	E	-	3	2	MYH8	10245090	0.847000	0.29606	1.000000	0.80357	0.993000	0.82548	-0.079000	0.11357	1.098000	0.41479	0.533000	0.62120	GAA		0.363	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH8	4626	broad.mit.edu	37	17	10304474	10304474	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10304474C>T	ENST00000403437.2	-	25	3237	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1048					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R1048Q(3)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGATCCATTCGAAGCTTCTT	0.348									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																												p.R1048Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3143A	17						.						117.0	103.0	108.0					17																	10304474		2203	4300	6503	10245199	SO:0001583	missense	4626	exon25	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3143G>A	17.37:g.10304474C>T	ENSP00000384330:p.Arg1048Gln		10245199	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987772	0.93106	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.95756	-3.8	5.48	5.48	0.80851	.	0.000000	0.38381	U	0.001703	D	0.98356	0.9454	H	0.97918	4.105	0.58432	D	0.999998	D	0.53885	0.963	P	0.54401	0.751	D	0.99357	1.0916	10	0.87932	D	0	.	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1048	P13535	MYH8_HUMAN	Q	1048	ENSP00000384330:R1048Q	ENSP00000252173:R1048Q	R	-	2	0	MYH8	10245199	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.447000	0.80620	2.861000	0.98227	0.650000	0.86243	CGA		0.348	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
MYH4	4622	broad.mit.edu	37	17	10357937	10357937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10357937C>A	ENST00000255381.2	-	22	2736	c.2626G>T	c.(2626-2628)Gaa>Taa	p.E876*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	876					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E876*(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTCTAGTTCTTTCCTTTTT	0.408																																					p.E876X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2626T	17						.						204.0	175.0	184.0					17																	10357937		2203	4300	6503	10298662	SO:0001587	stop_gained	4622	exon22				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2626G>T	17.37:g.10357937C>A	ENSP00000255381:p.Glu876*		10298662	NM_017533		Nonsense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	39	7.620305	0.98393	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.3	5.3	0.74995	.	0.000000	0.37906	U	0.001896	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.3106	0.94186	0.0:1.0:0.0:0.0	.	.	.	.	X	876	.	ENSP00000255381:E876X	E	-	1	0	MYH4	10298662	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.689000	0.84165	2.631000	0.89168	0.563000	0.77884	GAA		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH1	4619	broad.mit.edu	37	17	10398524	10398524	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10398524C>A	ENST00000226207.5	-	36	5374	c.5280G>T	c.(5278-5280)aaG>aaT	p.K1760N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1760					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1760N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGATGGCCTTCTTGGCCTTCT	0.453																																					p.K1760N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5280T	17						.						282.0	237.0	252.0					17																	10398524		2203	4300	6503	10339249	SO:0001583	missense	4619	exon36				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5280G>T	17.37:g.10398524C>A	ENSP00000226207:p.Lys1760Asn		10339249	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166914	0.78339	.	.	ENSG00000109061	ENST00000226207	T	0.77489	-1.1	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.45361	U	0.000378	D	0.90106	0.6909	M	0.93720	3.45	0.54753	D	0.999982	D	0.76494	0.999	D	0.73708	0.981	D	0.91853	0.5493	10	0.72032	D	0.01	.	12.6206	0.56601	0.0:0.9234:0.0:0.0766	.	1760	P12882	MYH1_HUMAN	N	1760	ENSP00000226207:K1760N	ENSP00000226207:K1760N	K	-	3	2	MYH1	10339249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.930000	0.56522	2.618000	0.88619	0.561000	0.74099	AAG		0.453	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10404709	10404709	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10404709C>A	ENST00000226207.5	-	27	3550	c.3456G>T	c.(3454-3456)gaG>gaT	p.E1152D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1152					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1152D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCCAGCCTCTCGCTGATCT	0.617																																					p.E1152D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3456T	17						.						67.0	77.0	73.0					17																	10404709		2203	4300	6503	10345434	SO:0001583	missense	4619	exon27				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3456G>T	17.37:g.10404709C>A	ENSP00000226207:p.Glu1152Asp		10345434	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826667	0.90955	.	.	ENSG00000109061	ENST00000226207	T	0.80566	-1.39	5.51	4.54	0.55810	Myosin tail (1);	0.000000	0.43579	U	0.000542	T	0.81992	0.4940	M	0.77712	2.385	0.54753	D	0.999983	B	0.21309	0.054	B	0.29176	0.099	T	0.80400	-0.1398	10	0.51188	T	0.08	.	14.4907	0.67649	0.0:0.9294:0.0:0.0706	.	1152	P12882	MYH1_HUMAN	D	1152	ENSP00000226207:E1152D	ENSP00000226207:E1152D	E	-	3	2	MYH1	10345434	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.937000	0.70162	1.464000	0.47987	0.650000	0.86243	GAG		0.617	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10406139	10406139	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10406139C>A	ENST00000226207.5	-	24	3121	c.3027G>T	c.(3025-3027)caG>caT	p.Q1009H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1009					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q1009H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCCAGGGTCTGCTGGTGGG	0.483																																					p.Q1009H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3027T	17						.						122.0	120.0	120.0					17																	10406139		2203	4297	6500	10346864	SO:0001583	missense	4619	exon24				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3027G>T	17.37:g.10406139C>A	ENSP00000226207:p.Gln1009His		10346864	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286176	0.80803	.	.	ENSG00000109061	ENST00000226207	D	0.89552	-2.53	5.37	5.37	0.77165	.	0.000000	0.41194	U	0.000936	D	0.95367	0.8496	H	0.95294	3.65	0.44012	D	0.996728	P	0.52316	0.952	P	0.53954	0.738	D	0.96450	0.9333	10	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	1009	P12882	MYH1_HUMAN	H	1009	ENSP00000226207:Q1009H	ENSP00000226207:Q1009H	Q	-	3	2	MYH1	10346864	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.110000	0.31147	2.689000	0.91719	0.650000	0.86243	CAG		0.483	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10406392	10406392	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10406392C>A	ENST00000226207.5	-	23	2959	c.2865G>T	c.(2863-2865)aaG>aaT	p.K955N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	955					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K955N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATGTCTTTCTTGAGTTCTG	0.428																																					p.K955N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2865T	17						.						98.0	96.0	97.0					17																	10406392		2202	4281	6483	10347117	SO:0001583	missense	4619	exon23				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2865G>T	17.37:g.10406392C>A	ENSP00000226207:p.Lys955Asn		10347117	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268080	0.80469	.	.	ENSG00000109061	ENST00000226207	D	0.84730	-1.89	5.34	5.34	0.76211	.	0.000000	0.45361	U	0.000378	D	0.94785	0.8316	H	0.95816	3.725	0.53688	D	0.999978	D	0.71674	0.998	D	0.67382	0.951	D	0.95937	0.8943	10	0.87932	D	0	.	19.4116	0.94675	0.0:1.0:0.0:0.0	.	955	P12882	MYH1_HUMAN	N	955	ENSP00000226207:K955N	ENSP00000226207:K955N	K	-	3	2	MYH1	10347117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.977000	0.70492	2.676000	0.91093	0.557000	0.71058	AAG		0.428	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10418205	10418205	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10418205C>A	ENST00000226207.5	-	6	607	c.513G>T	c.(511-513)gaG>gaT	p.E171D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	171	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E171D(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TAGACTGATTCTCCCGATCTA	0.323																																					p.E171D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G513T	17						.						116.0	121.0	119.0					17																	10418205		2203	4297	6500	10358930	SO:0001583	missense	4619	exon6				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.513G>T	17.37:g.10418205C>A	ENSP00000226207:p.Glu171Asp		10358930	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598590	0.46318	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.89746	-2.56	5.36	3.32	0.38043	Myosin head, motor domain (2);	0.000000	0.43416	U	0.000577	D	0.88962	0.6580	M	0.82323	2.585	0.43355	D	0.995424	B	0.11235	0.004	B	0.25291	0.059	D	0.85069	0.0939	10	0.51188	T	0.08	.	10.5026	0.44815	0.0:0.8366:0.0:0.1634	.	171	P12882	MYH1_HUMAN	D	171	ENSP00000226207:E171D	ENSP00000226207:E171D	E	-	3	2	MYH1	10358930	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.687000	0.25407	0.678000	0.31325	0.655000	0.94253	GAG		0.323	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH1	4619	broad.mit.edu	37	17	10419767	10419767	+	Missense_Mutation	SNP	C	C	T	rs544824288		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10419767C>T	ENST00000226207.5	-	3	287	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	65					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E65K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTCCAGCTTCGGTCTTAGCT	0.473																																					p.E65K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	17						.						227.0	209.0	215.0					17																	10419767		2203	4300	6503	10360492	SO:0001583	missense	4619	exon3				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.193G>A	17.37:g.10419767C>T	ENSP00000226207:p.Glu65Lys		10360492	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494808	0.44352	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.81163	-1.46	5.5	5.5	0.81552	Myosin, N-terminal, SH3-like (1);	0.000000	0.44483	U	0.000453	T	0.79076	0.4385	M	0.64260	1.97	0.46542	D	0.999097	B	0.14438	0.01	B	0.21546	0.035	T	0.72988	-0.4124	10	0.12103	T	0.63	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	65	P12882	MYH1_HUMAN	K	65	ENSP00000226207:E65K	ENSP00000226207:E65K	E	-	1	0	MYH1	10360492	0.213000	0.23551	0.944000	0.38274	0.770000	0.43624	1.567000	0.36407	2.861000	0.98227	0.655000	0.94253	GAA		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH2	4620	broad.mit.edu	37	17	10427102	10427102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10427102C>A	ENST00000245503.5	-	36	5659	c.5275G>T	c.(5275-5277)Gaa>Taa	p.E1759*	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1759*|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1759					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1759*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCCTTTTCTTCTGCATTG	0.458																																					p.E1759X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5275T	17						.						192.0	170.0	177.0					17																	10427102		2203	4300	6503	10367827	SO:0001587	stop_gained	4620	exon36				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5275G>T	17.37:g.10427102C>A	ENSP00000245503:p.Glu1759*		10367827	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	47	13.319394	0.99734	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.4	5.4	0.78164	.	0.000000	0.39687	U	0.001291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3641	0.94454	0.0:1.0:0.0:0.0	.	.	.	.	X	1759	.	ENSP00000245503:E1759X	E	-	1	0	MYH2	10367827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.638000	0.83328	2.805000	0.96524	0.609000	0.83330	GAA		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10432764	10432764	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10432764C>T	ENST00000245503.5	-	25	3536	c.3152G>A	c.(3151-3153)cGc>cAc	p.R1051H	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051H|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1051H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TAGGTCCATGCGAAGTTTCTT	0.383																																					p.R1051H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3152A	17						.						125.0	117.0	120.0					17																	10432764		2203	4300	6503	10373489	SO:0001583	missense	4620	exon25				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3152G>A	17.37:g.10432764C>T	ENSP00000245503:p.Arg1051His		10373489	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448449	0.84101	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.95853	-3.83;-3.83	5.24	5.24	0.73138	.	0.000000	0.40144	U	0.001162	D	0.98273	0.9428	H	0.97265	3.97	0.80722	D	1	D	0.64830	0.994	P	0.55087	0.768	D	0.99544	1.0964	10	0.87932	D	0	.	19.0151	0.92890	0.0:1.0:0.0:0.0	.	1051	Q9UKX2	MYH2_HUMAN	H	1051	ENSP00000245503:R1051H;ENSP00000380367:R1051H	ENSP00000245503:R1051H	R	-	2	0	MYH2	10373489	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.346000	0.79347	2.718000	0.92993	0.591000	0.81541	CGC		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10440987	10440987	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10440987C>T	ENST00000245503.5	-	15	1966	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E528K|MYH2_ENST00000532183.2_Missense_Mutation_p.E528K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	528	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E528K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAACCTTCTCGATGAGCTCG	0.433																																					p.E528K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	17						.						170.0	150.0	157.0					17																	10440987		2203	4300	6503	10381712	SO:0001583	missense	4620	exon15				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1582G>A	17.37:g.10440987C>T	ENSP00000245503:p.Glu528Lys		10381712	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.382959|5.382959	0.95967|0.95967	.|.	.|.	ENSG00000125414|ENSG00000214970	ENST00000532183;ENST00000245503;ENST00000397183|ENST00000399342	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Myosin head, motor domain (3);|.	0.000000|.	0.39475|.	U|.	0.001356|.	D|D	0.91280|0.91280	0.7251|0.7251	H|H	0.98769|0.98769	4.325|4.325	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.79|.	D;P|.	0.83275|.	0.996;0.736|.	D|D	0.94411|0.94411	0.7632|0.7632	10|6	0.87932|0.87932	D|D	0|0	.|.	18.8558|18.8558	0.92251|0.92251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	528;528|.	Q567P6;Q9UKX2|.	.;MYH2_HUMAN|.	K|L	528|20	ENSP00000433944:E528K;ENSP00000245503:E528K;ENSP00000380367:E528K|.	ENSP00000245503:E528K|ENSP00000382280:S20L	E|S	-|+	1|2	0|0	MYH2|AC005323.1	10381712|10381712	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.580000|0.580000	0.36256|0.36256	6.048000|6.048000	0.71046|0.71046	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAG|TCG		0.433	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10443342	10443342	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10443342G>T	ENST00000245503.5	-	12	1434	c.1050C>A	c.(1048-1050)gtC>gtA	p.V350V	MYH2_ENST00000397183.2_Silent_p.V350V|MYH2_ENST00000532183.2_Silent_p.V350V|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	350	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V350V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTAAATGGAGACCTTTTCTT	0.418																																					p.V350V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050A	17						.						157.0	148.0	151.0					17																	10443342		2203	4300	6503	10384067	SO:0001819	synonymous_variant	4620	exon12				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1050C>A	17.37:g.10443342G>T			10384067	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.418	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH3	4621	broad.mit.edu	37	17	10537376	10537376	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10537376C>A	ENST00000583535.1	-	32	4567	c.4480G>T	c.(4480-4482)Gat>Tat	p.D1494Y	MYH3_ENST00000226209.7_Missense_Mutation_p.D1494Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1494					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D1494Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAGTTGATCTAAGGCTTCC	0.483																																					p.D1494Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4480T	17						.						168.0	149.0	155.0					17																	10537376		2203	4300	6503	10478101	SO:0001583	missense	4621	exon31				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4480G>T	17.37:g.10537376C>A	ENSP00000464317:p.Asp1494Tyr		10478101	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807369	0.90623	.	.	ENSG00000109063	ENST00000226209	D	0.84070	-1.8	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.93893	0.8046	H	0.94886	3.595	0.58432	D	0.999994	D	0.89917	1.0	D	0.76575	0.988	D	0.95228	0.8340	9	0.87932	D	0	.	19.3282	0.94273	0.0:1.0:0.0:0.0	.	1494	P11055	MYH3_HUMAN	Y	1494	ENSP00000226209:D1494Y	ENSP00000226209:D1494Y	D	-	1	0	MYH3	10478101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.623000	0.88846	0.655000	0.94253	GAT		0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10541530	10541530	+	Missense_Mutation	SNP	C	C	T	rs557068462		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10541530C>T	ENST00000583535.1	-	27	3646	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1187K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1187					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E1187K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCATGGCTTCGTGCTGCAGT	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17076	0.0		0.0	False		,,,				2504	0.0				p.E1187K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3559A	17						.						84.0	70.0	75.0					17																	10541530		2203	4300	6503	10482255	SO:0001583	missense	4621	exon26				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3559G>A	17.37:g.10541530C>T	ENSP00000464317:p.Glu1187Lys		10482255	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.702529	0.96812	.	.	ENSG00000109063	ENST00000226209	D	0.86297	-2.1	5.45	5.45	0.79879	Myosin tail (1);	.	.	.	.	D	0.96309	0.8796	H	0.98178	4.165	0.53005	D	0.999962	D	0.89917	1.0	D	0.71414	0.973	D	0.97546	1.0089	9	0.87932	D	0	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	1187	P11055	MYH3_HUMAN	K	1187	ENSP00000226209:E1187K	ENSP00000226209:E1187K	E	-	1	0	MYH3	10482255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.776000	0.85560	2.714000	0.92807	0.563000	0.77884	GAA		0.622	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10543750	10543750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10543750C>A	ENST00000583535.1	-	21	2413	c.2326G>T	c.(2326-2328)Gag>Tag	p.E776*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E776*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	776	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E776*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCCGCATCTCTTCCAGGGTT	0.537																																					p.E776X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2326T	17						.						105.0	103.0	104.0					17																	10543750		2203	4300	6503	10484475	SO:0001587	stop_gained	4621	exon20				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2326G>T	17.37:g.10543750C>A	ENSP00000464317:p.Glu776*		10484475	NM_002470	Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139053	0.98672	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	.	.	.	X	776	.	ENSP00000226209:E776X	E	-	1	0	MYH3	10484475	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.772000	0.85439	2.685000	0.91497	0.561000	0.74099	GAG		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10550730	10550730	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10550730C>T	ENST00000583535.1	-	9	836	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	MYH3_ENST00000226209.7_Missense_Mutation_p.R250Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	250	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.R250Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAAATGGATTCGGATGAACTT	0.483																																					p.R250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	17						.						66.0	68.0	67.0					17																	10550730		2203	4300	6503	10491455	SO:0001583	missense	4621	exon8				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.749G>A	17.37:g.10550730C>T	ENSP00000464317:p.Arg250Gln		10491455	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749879	0.96890	.	.	ENSG00000109063	ENST00000226209	T	0.71222	-0.55	5.34	5.34	0.76211	Myosin head, motor domain (3);	.	.	.	.	D	0.84497	0.5485	M	0.74258	2.255	0.44880	D	0.997894	D	0.89917	1.0	D	0.81914	0.995	D	0.85651	0.1282	9	0.87932	D	0	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	250	P11055	MYH3_HUMAN	Q	250	ENSP00000226209:R250Q	ENSP00000226209:R250Q	R	-	2	0	MYH3	10491455	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.560000	0.82277	2.787000	0.95880	0.555000	0.69702	CGA		0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
SCO1	6341	broad.mit.edu	37	17	10595205	10595205	+	Silent	SNP	G	G	A	rs144621417		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10595205G>A	ENST00000255390.5	-	4	699	c.639C>T	c.(637-639)atC>atT	p.I213I	SCO1_ENST00000582053.1_5'Flank|SCO1_ENST00000577427.1_Silent_p.I182I	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	213					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)	p.I213I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CATAATTTGCGATGGCTTCTT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		20995	0.0		0.001	False		,,,				2504	0.0				p.I213I	Melanoma(128;591 1731 19711 31891 44645)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	17						.						97.0	93.0	94.0					17																	10595205		2203	4300	6503	10535930	SO:0001819	synonymous_variant	6341	exon4			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.639C>T	17.37:g.10595205G>A			10535930	NM_004589	B2RDM0	Silent	SNP	ENST00000255390.5	37	CCDS11158.1																																																																																				0.353	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589	
TUSC5	286753	broad.mit.edu	37	17	1198789	1198789	+	Missense_Mutation	SNP	G	G	A	rs200319809	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:1198789G>A	ENST00000333813.3	+	2	731	c.392G>A	c.(391-393)cGa>cAa	p.R131Q		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	131					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.R131Q(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCAGTCTCGAAGCAGCATG	0.652													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17834	0.0		0.001	False		,,,				2504	0.0				p.R131Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G392A	17						.						104.0	118.0	113.0					17																	1198789		2057	4203	6260	1145539	SO:0001583	missense	286753	exon2			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.392G>A	17.37:g.1198789G>A	ENSP00000329548:p.Arg131Gln		1145539	NM_172367	A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269189	0.80469	.	.	ENSG00000184811	ENST00000333813	D	0.87029	-2.2	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000003	D	0.93497	0.7925	M	0.80028	2.48	0.48571	D	0.999678	D	0.89917	1.0	D	0.91635	0.999	D	0.93627	0.6953	10	0.56958	D	0.05	-5.4651	16.2486	0.82467	0.0:0.0:1.0:0.0	.	131	Q8IXB3	TUSC5_HUMAN	Q	131	ENSP00000329548:R131Q	ENSP00000329548:R131Q	R	+	2	0	TUSC5	1145539	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	7.527000	0.81931	2.629000	0.89072	0.609000	0.83330	CGA		0.652	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367	
PIRT	644139	broad.mit.edu	37	17	10728777	10728777	+	Silent	SNP	G	G	A	rs555559126		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:10728777G>A	ENST00000580256.2	-	2	824	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	62						integral component of membrane (GO:0016021)		p.G62G(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGATGGCACCGCCCACTGACA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19700	0.001		0.0	False		,,,				2504	0.0				p.G62G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C186T	17						.						72.0	75.0	74.0					17																	10728777		2107	4215	6322	10669502	SO:0001819	synonymous_variant	644139	exon2			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.186C>T	17.37:g.10728777G>A			10669502	NM_001101387	B7Z648	Silent	SNP	ENST00000580256.2	37	CCDS45614.1																																																																																				0.567	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387	
DNAH9	1770	broad.mit.edu	37	17	11535946	11535946	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:11535946G>T	ENST00000262442.4	+	8	1629	c.1561G>T	c.(1561-1563)Gat>Tat	p.D521Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D521Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	521	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D521Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAAGTAGAAGATCTTGACCG	0.408																																					p.D521Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1561T	17						.						108.0	108.0	108.0					17																	11535946		2203	4300	6503	11476671	SO:0001583	missense	1770	exon8			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1561G>T	17.37:g.11535946G>T	ENSP00000262442:p.Asp521Tyr		11476671	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406777	0.62399	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.58358	0.34;0.34	5.18	5.18	0.71444	Dynein heavy chain, domain-1 (1);	1.438580	0.04258	N	0.339838	T	0.79656	0.4483	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65236	-0.6217	10	0.62326	D	0.03	.	15.6299	0.76899	0.0:0.0:1.0:0.0	.	521	Q9NYC9	DYH9_HUMAN	Y	521	ENSP00000262442:D521Y;ENSP00000414874:D521Y	ENSP00000262442:D521Y	D	+	1	0	DNAH9	11476671	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.402000	0.79972	2.427000	0.82271	0.650000	0.86243	GAT		0.408	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11597209	11597209	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:11597209G>A	ENST00000262442.4	+	21	4707	c.4639G>A	c.(4639-4641)Gac>Aac	p.D1547N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1547N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1547	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D1547N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAGGCATCGACATTGACTT	0.428																																					p.D1547N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4639A	17						.						116.0	111.0	112.0					17																	11597209		2203	4300	6503	11537934	SO:0001583	missense	1770	exon21			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4639G>A	17.37:g.11597209G>A	ENSP00000262442:p.Asp1547Asn		11537934	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291731	0.59976	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.64991	-0.13;-0.13	4.72	4.72	0.59763	Dynein heavy chain, domain-2 (1);	0.125210	0.52532	D	0.000062	T	0.74627	0.3741	M	0.78344	2.41	0.80722	D	1	P	0.41498	0.752	P	0.51385	0.668	T	0.75557	-0.3276	10	0.44086	T	0.13	.	17.8424	0.88719	0.0:0.0:1.0:0.0	.	1547	Q9NYC9	DYH9_HUMAN	N	1547;1547;129	ENSP00000262442:D1547N;ENSP00000414874:D1547N	ENSP00000262442:D1547N	D	+	1	0	DNAH9	11537934	1.000000	0.71417	0.701000	0.30321	0.152000	0.21847	7.176000	0.77643	2.627000	0.88993	0.655000	0.94253	GAC		0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:11648245G>T	ENST00000262442.4	+	31	6311	c.6243G>T	c.(6241-6243)aaG>aaT	p.K2081N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K2081N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2081					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K2081N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCCCCAAGATTGTGACTG	0.597																																					p.K2081N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6243T	17						.						67.0	64.0	65.0					17																	11648245		2203	4300	6503	11588970	SO:0001583	missense	1770	exon31			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6243G>T	17.37:g.11648245G>T	ENSP00000262442:p.Lys2081Asn		11588970	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837841	0.71373	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.46451	0.87;0.87	5.46	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	H	0.99740	4.74	0.80722	D	1	D	0.60160	0.987	P	0.56648	0.803	T	0.81938	-0.0704	10	0.87932	D	0	.	9.6114	0.39665	0.2763:0.0:0.7237:0.0	.	2081	Q9NYC9	DYH9_HUMAN	N	2081;2081;663	ENSP00000262442:K2081N;ENSP00000414874:K2081N	ENSP00000262442:K2081N	K	+	3	2	DNAH9	11588970	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.932000	0.40143	1.311000	0.45024	-0.145000	0.13849	AAG		0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11725349	11725349	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:11725349C>A	ENST00000262442.4	+	46	8888	c.8820C>A	c.(8818-8820)ttC>ttA	p.F2940L	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2940L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2940	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.F2940L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTGGAAGTTCTTTATAGATC	0.453																																					p.F2940L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8820A	17						.						71.0	67.0	68.0					17																	11725349		2203	4300	6503	11666074	SO:0001583	missense	1770	exon46			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8820C>A	17.37:g.11725349C>A	ENSP00000262442:p.Phe2940Leu		11666074	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374206	0.61735	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.54071	0.59;0.59	4.2	3.22	0.36961	Dynein heavy chain, P-loop containing D4 domain (1);	0.986339	0.08252	N	0.974374	T	0.60869	0.2302	M	0.81942	2.565	0.80722	D	1	B	0.21452	0.056	B	0.33750	0.169	T	0.57418	-0.7815	10	0.87932	D	0	.	9.1209	0.36786	0.0:0.7565:0.0:0.2435	.	2940	Q9NYC9	DYH9_HUMAN	L	2940;2940;1522	ENSP00000262442:F2940L;ENSP00000414874:F2940L	ENSP00000262442:F2940L	F	+	3	2	DNAH9	11666074	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	0.911000	0.28584	0.763000	0.33175	0.460000	0.39030	TTC		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ZNF18	7566	broad.mit.edu	37	17	11881496	11881496	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:11881496G>T	ENST00000322748.3	-	9	2032	c.1428C>A	c.(1426-1428)ttC>ttA	p.F476L	ZNF18_ENST00000580306.2_Missense_Mutation_p.F476L|ZNF18_ENST00000454073.3_Missense_Mutation_p.F475L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	476					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.F476L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GCAATCCTGAGAAGTCACTAA	0.433																																					p.F476L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1428A	17						.						93.0	95.0	94.0					17																	11881496		2203	4300	6503	11822221	SO:0001583	missense	7566	exon9			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1428C>A	17.37:g.11881496G>T	ENSP00000315664:p.Phe476Leu		11822221	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495708	0.26774	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.13901	2.55	5.62	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110713	0.41194	N	0.000935	T	0.05502	0.0145	N	0.04162	-0.26	0.09310	N	0.999998	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.36212	-0.9757	10	0.27785	T	0.31	-11.3736	6.128	0.20189	0.1675:0.1704:0.662:0.0	.	475;476	P17022-2;P17022	.;ZNF18_HUMAN	L	476	ENSP00000315664:F476L	ENSP00000315664:F476L	F	-	3	2	ZNF18	11822221	0.210000	0.23517	0.998000	0.56505	0.991000	0.79684	0.385000	0.20685	0.702000	0.31825	0.557000	0.71058	TTC		0.433	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	
MAP2K4	6416	broad.mit.edu	37	17	12032524	12032524	+	Silent	SNP	C	C	T	rs368291515		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12032524C>T	ENST00000353533.5	+	9	1023	c.960C>T	c.(958-960)gtC>gtT	p.V320V	MAP2K4_ENST00000415385.3_Silent_p.V331V	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.V320V(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TAACACAAGTCGTGAAAGGAG	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.V320V			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	12	Whole gene deletion(10)|Substitution - coding silent(1)|Unknown(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	c.C960T	17						.	C		0,4406		0,0,2203	95.0	87.0	90.0		960	-4.1	1.0	17		90	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MAP2K4	NM_003010.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		320/400	12032524	1,13003	2203	4299	6502	11973249	SO:0001819	synonymous_variant	6416	exon9			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.960C>T	17.37:g.12032524C>T			11973249	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	CCDS11162.1																																																																																				0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
MYOCD	93649	broad.mit.edu	37	17	12626293	12626293	+	Missense_Mutation	SNP	C	C	A	rs373364614		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12626293C>A	ENST00000343344.4	+	5	383	c.383C>A	c.(382-384)cCt>cAt	p.P128H	MYOCD_ENST00000425538.1_Missense_Mutation_p.P128H|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P32H			Q8IZQ8	MYCD_HUMAN	myocardin	128					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P128H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACATTCTTCCTGTGGATTCT	0.488																																					p.P128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383A	17						.						124.0	126.0	125.0					17																	12626293		2203	4300	6503	12567018	SO:0001583	missense	93649	exon5			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.383C>A	17.37:g.12626293C>A	ENSP00000341835:p.Pro128His		12567018	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287328	0.80803	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.52526	0.66	5.33	4.36	0.52297	.	0.180485	0.48286	D	0.000185	T	0.59636	0.2208	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.78314	0.991;0.964;0.794	T	0.58239	-0.7671	10	0.39692	T	0.17	-23.0492	12.9033	0.58137	0.0:0.9208:0.0:0.0792	.	32;128;128	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	H	128;128;32	ENSP00000341835:P128H	ENSP00000341835:P128H	P	+	2	0	MYOCD	12567018	1.000000	0.71417	0.759000	0.31340	0.993000	0.82548	7.574000	0.82434	1.470000	0.48102	0.561000	0.74099	CCT		0.488	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
MYOCD	93649	broad.mit.edu	37	17	12666502	12666502	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12666502A>G	ENST00000343344.4	+	13	2358	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Silent_p.E834E			Q8IZQ8	MYCD_HUMAN	myocardin	786					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E786E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTTTGAACAAGCCTCTT	0.498																																					p.E834E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2502G	17						.						100.0	97.0	98.0					17																	12666502		2203	4300	6503	12607227	SO:0001819	synonymous_variant	93649	exon14			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2358A>G	17.37:g.12666502A>G			12607227	NM_001146312	Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	CCDS11163.1																																																																																				0.498	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
MYOCD	93649	broad.mit.edu	37	17	12666860	12666860	+	Missense_Mutation	SNP	G	G	A	rs370289662		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12666860G>A	ENST00000343344.4	+	13	2716	c.2716G>A	c.(2716-2718)Gcc>Acc	p.A906T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.A954T			Q8IZQ8	MYCD_HUMAN	myocardin	906					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A906T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGCTTTAGCGCCCTCACCAC	0.517																																					p.A954T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2860A	17						.	G	THR/ALA,THR/ALA	0,4406		0,0,2203	62.0	56.0	58.0		2716,2860	2.6	0.5	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOCD	NM_153604.2,NM_001146312.1	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	906/939,954/987	12666860	1,13005	2203	4300	6503	12607585	SO:0001583	missense	93649	exon14			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2716G>A	17.37:g.12666860G>A	ENSP00000341835:p.Ala906Thr		12607585	NM_001146312	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486760	0.12641	0.0	1.16E-4	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.43688	0.94;0.95	6.08	2.59	0.31030	.	0.687575	0.15464	N	0.260979	T	0.20455	0.0492	N	0.08118	0	0.23076	N	0.998331	B;B;B	0.29341	0.242;0.194;0.003	B;B;B	0.20767	0.008;0.031;0.004	T	0.12682	-1.0538	10	0.56958	D	0.05	-13.4936	7.6075	0.28110	0.2468:0.0:0.1263:0.6269	.	630;954;906	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	T	630;954;906;616	ENSP00000341835:A906T;ENSP00000400148:A616T	ENSP00000341835:A906T	A	+	1	0	MYOCD	12607585	0.944000	0.32072	0.460000	0.27093	0.011000	0.07611	1.111000	0.31159	0.160000	0.19432	-1.061000	0.02294	GCC		0.517	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
ARHGAP44	9912	broad.mit.edu	37	17	12819294	12819294	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12819294G>T	ENST00000379672.5	+	5	653	c.353G>T	c.(352-354)aGa>aTa	p.R118I	MIR1269B_ENST00000580405.1_RNA|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R118I|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R118I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	118	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.R118I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAAGTAGAGAGAGACGTGATT	0.522																																					p.R118I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353T	17						.						99.0	98.0	98.0					17																	12819294		2075	4207	6282	12760019	SO:0001583	missense	9912	exon5				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.353G>T	17.37:g.12819294G>T	ENSP00000368994:p.Arg118Ile		12760019	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819767	0.50633	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.64618	-0.11;-0.11	5.92	5.92	0.95590	BAR (3);	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.63843	1.955	0.80722	D	1	D;D	0.57257	0.966;0.979	P;D	0.65573	0.837;0.936	T	0.75534	-0.3284	10	0.87932	D	0	.	11.135	0.48368	0.0831:0.0:0.9169:0.0	.	118;118	A6NCP5;Q17R89	.;RHG44_HUMAN	I	118	ENSP00000368994:R118I;ENSP00000342566:R118I	ENSP00000342566:R118I	R	+	2	0	ARHGAP44	12760019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.491000	0.90468	2.818000	0.97014	0.655000	0.94253	AGA		0.522	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
INPP5K	51763	broad.mit.edu	37	17	1401248	1401248	+	Silent	SNP	G	G	A	rs370433971	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:1401248G>A	ENST00000421807.2	-	8	1333	c.945C>T	c.(943-945)tcC>tcT	p.S315S	INPP5K_ENST00000397335.3_Silent_p.S223S|INPP5K_ENST00000406424.4_Silent_p.S239S|INPP5K_ENST00000320345.6_Silent_p.S239S|INPP5K_ENST00000542125.1_Silent_p.S219S	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	315	Catalytic. {ECO:0000255}.		S -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)	p.S315S(1)|p.S239S(1)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGAACGTGCCGGAGACAGGCT	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		19573	0.0		0.0	False		,,,				2504	0.0031				p.S315S												SKIP,breast,NS,Substitution - Missense,-1	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C945T	17						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	153.0	134.0	141.0		717,945,717	-6.3	0.3	17		141	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	INPP5K	NM_001135642.1,NM_016532.3,NM_130766.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	239/373,315/449,239/373	1401248	1,13005	2203	4300	6503	1347998	SO:0001819	synonymous_variant	51763	exon8				CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.945C>T	17.37:g.1401248G>A			1347998	NM_016532	B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	CCDS11004.1																																																																																				0.592	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
SLC43A2	124935	broad.mit.edu	37	17	1520008	1520008	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:1520008C>A	ENST00000301335.5	-	3	304	c.216G>T	c.(214-216)gtG>gtT	p.V72V	SLC43A2_ENST00000382147.4_Silent_p.V72V|SLC43A2_ENST00000571650.1_Silent_p.V72V|snoU13_ENST00000459614.1_RNA	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	72					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)	p.V72V(1)		endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TCATCCAGCTCACCTCCTCGT	0.602																																					p.V72V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216T	17						.						88.0	70.0	76.0					17																	1520008		2203	4300	6503	1466758	SO:0001819	synonymous_variant	124935	exon3			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.216G>T	17.37:g.1520008C>A			1466758	NM_152346	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	CCDS11006.1																																																																																				0.602	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346	
PRPF8	10594	broad.mit.edu	37	17	1585217	1585217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:1585217C>A	ENST00000572621.1	-	4	815	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	PRPF8_ENST00000304992.6_Missense_Mutation_p.D184Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	184				D -> N (in Ref. 2; BAA22563). {ECO:0000305}.	gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.D184Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGCTCAACATCTAGGATGTTG	0.542																																					p.D184Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550T	17						.						93.0	95.0	94.0					17																	1585217		2203	4300	6503	1531967	SO:0001583	missense	10594	exon5			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.550G>T	17.37:g.1585217C>A	ENSP00000460348:p.Asp184Tyr		1531967	NM_006445	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735697	0.89482	.	.	ENSG00000174231	ENST00000304992	T	0.54071	0.59	5.47	5.47	0.80525	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.91561	3.22	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.83825	0.0249	10	0.87932	D	0	.	19.3655	0.94460	0.0:1.0:0.0:0.0	.	184	Q6P2Q9	PRP8_HUMAN	Y	184	ENSP00000304350:D184Y	ENSP00000304350:D184Y	D	-	1	0	PRPF8	1531967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.789000	0.85783	2.580000	0.87095	0.550000	0.68814	GAT		0.542	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		
ARHGAP44	9912	broad.mit.edu	37	17	12860001	12860001	+	Nonsense_Mutation	SNP	C	C	A	rs372255404		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:12860001C>A	ENST00000379672.5	+	15	1580	c.1280C>A	c.(1279-1281)tCg>tAg	p.S427*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.S427*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.S427*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.S427*(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ACCACAGTGTCGCTGCAAATT	0.537																																					p.S427X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1280A	17						.						89.0	89.0	89.0					17																	12860001		2104	4248	6352	12800726	SO:0001587	stop_gained	9912	exon15				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1280C>A	17.37:g.12860001C>A	ENSP00000368994:p.Ser427*		12800726	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Nonsense_Mutation	SNP	ENST00000379672.5	37	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	37	6.474956	0.97598	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6601	0.88191	0.0:1.0:0.0:0.0	.	.	.	.	X	427;89;427	.	ENSP00000342566:S427X	S	+	2	0	ARHGAP44	12800726	1.000000	0.71417	0.195000	0.23364	0.469000	0.32828	7.445000	0.80570	2.773000	0.95371	0.585000	0.79938	TCG		0.537	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
CDRT1	374286	broad.mit.edu	37	17	15492480	15492480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15492480C>A	ENST00000395906.3	-	12	2067	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*	RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000583965.1_3'UTR|CDRT1_ENST00000354433.3_Nonsense_Mutation_p.E190*	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	690								p.E190*(2)|p.E690*(2)|p.E190K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GCACTTGGTTCGATTCCATTC	0.507																																					p.E690X												.	.	5	Substitution - Nonsense(4)|Substitution - Missense(1)	large_intestine(5)	c.G2068T	17						.						105.0	112.0	109.0					17																	15492480		2199	4299	6498	15433205	SO:0001587	stop_gained	374286	exon12			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.2068G>T	17.37:g.15492480C>A	ENSP00000379242:p.Glu690*		15433205	NM_006382	O43848|O95611	Nonsense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302280	0.60195	.	.	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	.	.	.	1.38	0.0901	0.14462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8388	0.18623	0.4061:0.5939:0.0:0.0	.	.	.	.	X	190;720;690	.	ENSP00000346416:E190X	E	-	1	0	CDRT1;RP11-385D13.1	15433205	0.851000	0.29673	0.000000	0.03702	0.000000	0.00434	-0.129000	0.10515	-0.389000	0.07786	0.000000	0.15137	GAA		0.507	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382	
ZNF286A	57335	broad.mit.edu	37	17	15609790	15609790	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15609790G>T	ENST00000464847.2	+	3	769	c.216G>T	c.(214-216)gaG>gaT	p.E72D	ZNF286A_ENST00000593105.1_Missense_Mutation_p.E62D|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000395894.2_Missense_Mutation_p.E72D|ZNF286A_ENST00000395893.2_Missense_Mutation_p.E72D|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000472486.1_Missense_Mutation_p.E62D|ZNF286A_ENST00000585194.1_Missense_Mutation_p.E72D|ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E72D|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E72D|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E72D			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E72D(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TGATGCTGGAGAACTATAGGA	0.408																																					p.E72D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	17						.						129.0	123.0	125.0					17																	15609790		2203	4300	6503	15550515	SO:0001583	missense	57335	exon4			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.216G>T	17.37:g.15609790G>T	ENSP00000464218:p.Glu72Asp		15550515	NM_001130842	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	15.61	2.883519	0.51908	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	4.67	3.71	0.42584	Krueppel-associated box (4);	0.270756	0.20384	N	0.093385	T	0.19485	0.0468	M	0.87456	2.885	0.29467	N	0.857352	D	0.65815	0.995	D	0.65140	0.932	T	0.04255	-1.0965	10	0.66056	D	0.02	-13.2156	7.2734	0.26271	0.1958:0.0:0.8042:0.0	.	72	Q9HBT8	Z286A_HUMAN	D	72;62;72;72	ENSP00000397163:E72D;ENSP00000408168:E62D;ENSP00000379231:E72D;ENSP00000379230:E72D	ENSP00000435872:E72D	E	+	3	2	ZNF286A	15550515	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.195000	0.51013	1.319000	0.45190	-0.136000	0.14681	GAG		0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
ZNF286A	57335	broad.mit.edu	37	17	15619742	15619742	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15619742G>T	ENST00000464847.2	+	5	1257	c.704G>T	c.(703-705)aGa>aTa	p.R235I	ZNF286A_ENST00000593105.1_Missense_Mutation_p.R225I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R235I|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R235I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R235I			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R235I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAAAAGCAGAGAACTTATAAA	0.368																																					p.R235I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G704T	17						.						25.0	25.0	25.0					17																	15619742		2197	4287	6484	15560467	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.704G>T	17.37:g.15619742G>T	ENSP00000464218:p.Arg235Ile		15560467	NM_001130842	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	7.447	0.641818	0.14451	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.02446	4.29;4.29	4.06	3.07	0.35406	.	0.152839	0.30879	N	0.008699	T	0.06508	0.0167	M	0.78223	2.4	0.28209	N	0.927025	D	0.56746	0.977	P	0.46389	0.515	T	0.12091	-1.0561	10	0.59425	D	0.04	-18.5274	8.4342	0.32778	0.0954:0.156:0.7486:0.0	.	235	Q9HBT8	Z286A_HUMAN	I	235;225;235	ENSP00000397163:R235I;ENSP00000408168:R225I	ENSP00000435872:R235I	R	+	2	0	ZNF286A	15560467	0.983000	0.35010	0.993000	0.49108	0.612000	0.37316	2.040000	0.41203	0.482000	0.27582	-0.813000	0.03139	AGA		0.368	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
ZNF286A	57335	broad.mit.edu	37	17	15619910	15619910	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15619910G>T	ENST00000464847.2	+	5	1425	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF286A_ENST00000593105.1_Missense_Mutation_p.R281I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R291I|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R291I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R291I			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	291					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.R291I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAACACCAGAGAACTCATACT	0.408																																					p.R291I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872T	17						.						50.0	52.0	51.0					17																	15619910		2203	4299	6502	15560635	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.872G>T	17.37:g.15619910G>T	ENSP00000464218:p.Arg291Ile		15560635	NM_001130842	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	16.81	3.224815	0.58668	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.18502	2.21;2.21	4.53	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000505	T	0.40322	0.1112	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.25606	-1.0127	10	0.56958	D	0.05	-26.3126	14.8057	0.69952	0.0:0.0:1.0:0.0	.	291	Q9HBT8	Z286A_HUMAN	I	291;281;291	ENSP00000397163:R291I;ENSP00000408168:R281I	ENSP00000435872:R291I	R	+	2	0	ZNF286A	15560635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	2.335000	0.79485	0.650000	0.86243	AGA		0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
ZNF286A	57335	broad.mit.edu	37	17	15620327	15620327	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15620327G>T	ENST00000464847.2	+	5	1842	c.1289G>T	c.(1288-1290)aGa>aTa	p.R430I	ZNF286A_ENST00000593105.1_Missense_Mutation_p.R420I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R430I|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R430I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R430I			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R430I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CAACATCAGAGAATTCACACT	0.388																																					p.R430I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289T	17						.						35.0	42.0	39.0					17																	15620327		2203	4297	6500	15561052	SO:0001583	missense	57335	exon6			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1289G>T	17.37:g.15620327G>T	ENSP00000464218:p.Arg430Ile		15561052	NM_001130842	B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	18.46	3.628598	0.67015	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.24908	1.83;1.83	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000548	T	0.38188	0.1031	L	0.42487	1.325	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.13495	-1.0507	10	0.66056	D	0.02	-23.8783	7.794	0.29138	0.1131:0.0:0.8869:0.0	.	430	Q9HBT8	Z286A_HUMAN	I	430;420;430	ENSP00000397163:R430I;ENSP00000408168:R420I	ENSP00000435872:R430I	R	+	2	0	ZNF286A	15561052	0.960000	0.32886	1.000000	0.80357	0.988000	0.76386	3.160000	0.50739	2.248000	0.74166	0.585000	0.79938	AGA		0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652	
TBC1D26	353149	broad.mit.edu	37	17	15641598	15641598	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15641598C>A	ENST00000437605.2	+	7	534	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.S95Y|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	95							Rab GTPase activator activity (GO:0005097)	p.S95Y(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CTGTAGCTGTCTCAAAGAGTA	0.537																																					p.S95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	17						.						88.0	84.0	86.0					17																	15641598		1967	4147	6114	15582323	SO:0001583	missense	353149	exon7				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.284C>A	17.37:g.15641598C>A	ENSP00000410111:p.Ser95Tyr		15582323	NM_178571	A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.288901	0.00248	.	.	ENSG00000214946	ENST00000437605	T	0.30182	1.54	1.44	-2.89	0.05665	Rab-GAP/TBC domain (1);	4.902450	0.00916	U	0.002533	T	0.20251	0.0487	N	0.25647	0.755	0.09310	N	1	B;B	0.30455	0.28;0.022	B;B	0.28916	0.096;0.056	T	0.10109	-1.0644	10	0.31617	T	0.26	.	5.2392	0.15462	0.5207:0.4793:0.0:0.0	.	95;95	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	Y	95	ENSP00000410111:S95Y	ENSP00000410111:S95Y	S	+	2	0	TBC1D26	15582323	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.621000	0.05559	-0.585000	0.05905	0.411000	0.27672	TCT		0.537	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571	
NCOR1	9611	broad.mit.edu	37	17	15965425	15965425	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15965425C>T	ENST00000268712.3	-	36	5638	c.5381G>A	c.(5380-5382)cGa>cAa	p.R1794Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R378Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1810Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1794	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1794Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACATGATTCGTAGCTGAGC	0.383																																					p.R1810Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5429A	17						.						147.0	129.0	135.0					17																	15965425		2203	4300	6503	15906150	SO:0001583	missense	9611	exon35			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5381G>A	17.37:g.15965425C>T	ENSP00000268712:p.Arg1794Gln		15906150	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042255	0.75732	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.46819	0.86;0.86;0.86	5.74	5.74	0.90152	.	0.136830	0.48767	D	0.000161	T	0.62551	0.2437	L	0.40543	1.245	0.48135	D	0.99959	D;D;D;D;D	0.89917	0.999;1.0;0.997;0.998;0.999	D;D;D;D;P	0.80764	0.994;0.988;0.968;0.986;0.885	T	0.61860	-0.6976	10	0.56958	D	0.05	-6.8779	18.9133	0.92494	0.0:1.0:0.0:0.0	.	604;1698;1794;1810;314	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	Q	1794;1810;1698;378	ENSP00000268712:R1794Q;ENSP00000379192:R1810Q;ENSP00000379198:R378Q	ENSP00000268712:R1794Q	R	-	2	0	NCOR1	15906150	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.950000	0.70265	2.715000	0.92844	0.650000	0.86243	CGA		0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
NCOR1	9611	broad.mit.edu	37	17	15983784	15983784	+	Missense_Mutation	SNP	C	C	T	rs150513105	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15983784C>T	ENST00000268712.3	-	25	3595	c.3338G>A	c.(3337-3339)cGa>cAa	p.R1113Q	NCOR1_ENST00000395857.3_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1129Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1113	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1113Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTTGGCTTCGGGGAGAAAA	0.438													C|||	12	0.00239617	0.0	0.0	5008	,	,		15189	0.0119		0.0	False		,,,				2504	0.0				p.R1129Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3386A	17						.						100.0	105.0	104.0					17																	15983784		2203	4300	6503	15924509	SO:0001583	missense	9611	exon24			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3338G>A	17.37:g.15983784C>T	ENSP00000268712:p.Arg1113Gln		15924509	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	32	5.154039	0.94645	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82803	-1.65;-1.65	6.07	5.11	0.69529	.	0.210251	0.41294	D	0.000902	D	0.83667	0.5304	M	0.64170	1.965	0.80722	D	1	D;B;B	0.69078	0.997;0.083;0.135	P;B;B	0.56788	0.806;0.004;0.01	D	0.86213	0.1626	10	0.56958	D	0.05	-7.4873	14.4647	0.67475	0.0:0.9301:0.0:0.0699	.	1020;1113;1129	E7EVK1;O75376;O75376-2	.;NCOR1_HUMAN;.	Q	1113;1129;1020	ENSP00000268712:R1113Q;ENSP00000379192:R1129Q	ENSP00000268712:R1113Q	R	-	2	0	NCOR1	15924509	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.006000	0.70724	1.587000	0.49959	-0.136000	0.14681	CGA		0.438	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
NCOR1	9611	broad.mit.edu	37	17	15983934	15983934	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:15983934T>G	ENST00000268712.3	-	24	3542	c.3285A>C	c.(3283-3285)gaA>gaC	p.E1095D	NCOR1_ENST00000395857.3_5'Flank|NCOR1_ENST00000395851.1_Missense_Mutation_p.E1111D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1095	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E1095D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATTTGGCAGATTCCTGTTGCC	0.438																																					p.E1111D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3333C	17						.						182.0	161.0	169.0					17																	15983934		2203	4300	6503	15924659	SO:0001583	missense	9611	exon23			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3285A>C	17.37:g.15983934T>G	ENSP00000268712:p.Glu1095Asp		15924659	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	4.240	0.043408	0.08196	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82526	-1.62;-1.62	6.07	-7.9	0.01169	.	0.042794	0.85682	D	0.000000	T	0.64068	0.2565	N	0.16233	0.39	0.80722	D	1	B;B	0.23442	0.051;0.085	B;B	0.21360	0.015;0.034	T	0.53107	-0.8485	10	0.02654	T	1	-12.9723	21.5777	0.99957	0.0:0.6833:0.0:0.3167	.	1095;1111	O75376;O75376-2	NCOR1_HUMAN;.	D	1095;1111;1002	ENSP00000268712:E1095D;ENSP00000379192:E1111D	ENSP00000268712:E1095D	E	-	3	2	NCOR1	15924659	0.036000	0.19791	0.001000	0.08648	0.975000	0.68041	-0.624000	0.05540	-1.643000	0.01519	-0.256000	0.11100	GAA		0.438	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
SERPINF1	5176	broad.mit.edu	37	17	1675263	1675263	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:1675263G>T	ENST00000254722.4	+	5	700	c.537G>T	c.(535-537)gaG>gaT	p.E179D		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	179					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E179D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACCTGCAAGAGATCAACAACT	0.552																																					p.E179D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G537T	17						.						87.0	81.0	83.0					17																	1675263		2203	4300	6503	1622013	SO:0001583	missense	5176	exon5			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.537G>T	17.37:g.1675263G>T	ENSP00000254722:p.Glu179Asp		1622013	NM_002615	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571467	0.45798	.	.	ENSG00000132386	ENST00000254722	D	0.85013	-1.93	5.79	2.72	0.32119	Serpin domain (3);	0.096077	0.64402	D	0.000001	D	0.84982	0.5593	L	0.43152	1.355	0.80722	D	1	D	0.61697	0.99	D	0.63877	0.919	T	0.80259	-0.1457	10	0.17369	T	0.5	.	8.3724	0.32423	0.3393:0.0:0.6607:0.0	.	179	P36955	PEDF_HUMAN	D	179	ENSP00000254722:E179D	ENSP00000254722:E179D	E	+	3	2	SERPINF1	1622013	0.747000	0.28283	0.989000	0.46669	0.024000	0.10985	0.151000	0.16283	1.444000	0.47605	0.561000	0.74099	GAG		0.552	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615	
NCOR1	9611	broad.mit.edu	37	17	16042492	16042492	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16042492C>A	ENST00000268712.3	-	12	1439	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395851.1_Missense_Mutation_p.E394D|NCOR1_ENST00000395848.1_Missense_Mutation_p.E285D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	394					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.E394D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCATTTGTTTCTCATTATTCT	0.363																																					p.E394D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1182T	17						.						43.0	42.0	42.0					17																	16042492		2203	4300	6503	15983217	SO:0001583	missense	9611	exon11			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1182G>T	17.37:g.16042492C>A	ENSP00000268712:p.Glu394Asp		15983217	NM_001190440	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570352	0.28003	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.38	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.11560	0.145	0.80722	D	1	P;P;P;B;P;D	0.71674	0.855;0.855;0.855;0.034;0.731;0.998	B;B;B;B;B;D	0.77557	0.348;0.348;0.348;0.076;0.437;0.99	T	0.22800	-1.0206	10	0.56958	D	0.05	-10.668	6.823	0.23866	0.0:0.6327:0.0:0.3673	.	403;394;394;285;394;394	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	D	394;394;285;403;285;394;403	ENSP00000268712:E394D;ENSP00000379192:E394D;ENSP00000379189:E285D;ENSP00000407998:E394D;ENSP00000387727:E403D	ENSP00000268712:E394D	E	-	3	2	NCOR1	15983217	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.852000	0.27764	1.267000	0.44247	-0.150000	0.13652	GAG		0.363	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
TRPV2	51393	broad.mit.edu	37	17	16323446	16323446	+	Missense_Mutation	SNP	G	G	A	rs569542610		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16323446G>A	ENST00000338560.7	+	3	617	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	73	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.R73Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATCCAAACCGATTTGACCGA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19193	0.0		0.0	False		,,,				2504	0.001				p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	17						.						84.0	76.0	78.0					17																	16323446		2203	4300	6503	16264171	SO:0001583	missense	51393	exon3			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.218G>A	17.37:g.16323446G>A	ENSP00000342222:p.Arg73Gln		16264171	NM_016113	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719863	0.48728	.	.	ENSG00000187688	ENST00000338560	D	0.87729	-2.29	5.41	3.43	0.39272	Ankyrin repeat-containing domain (1);	0.509456	0.23086	N	0.052096	T	0.78534	0.4298	M	0.62723	1.935	0.80722	D	1	D	0.56035	0.974	B	0.31101	0.124	T	0.73541	-0.3950	10	0.22109	T	0.4	-28.7212	9.2141	0.37337	0.1681:0.0:0.8319:0.0	.	73	Q9Y5S1	TRPV2_HUMAN	Q	73	ENSP00000342222:R73Q	ENSP00000342222:R73Q	R	+	2	0	TRPV2	16264171	0.998000	0.40836	0.926000	0.36857	0.610000	0.37248	1.904000	0.39868	0.666000	0.31087	0.655000	0.94253	CGA		0.582	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113	
ZNF287	57336	broad.mit.edu	37	17	16456563	16456563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16456563G>T	ENST00000395824.1	-	6	1510	c.893C>A	c.(892-894)tCa>tAa	p.S298*	ZNF287_ENST00000395825.3_Nonsense_Mutation_p.S298*			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	291					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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.S291*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TGAAAGGACTGACTTCAAACT	0.328																																					p.S298X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C893A	17						.						101.0	105.0	103.0					17																	16456563		2203	4299	6502	16397288	SO:0001587	stop_gained	57336	exon6			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.893C>A	17.37:g.16456563G>T	ENSP00000379168:p.Ser298*		16397288	NM_020653	Q6IAG1	Nonsense_Mutation	SNP	ENST00000395824.1	37	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	G	37	6.376096	0.97515	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	.	.	.	4.88	4.88	0.63580	.	0.000000	0.41294	D	0.000913	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9346	0.79691	0.0:0.0:1.0:0.0	.	.	.	.	X	298	.	ENSP00000379168:S298X	S	-	2	0	ZNF287	16397288	0.001000	0.12720	0.413000	0.26509	0.484000	0.33280	0.998000	0.29744	2.714000	0.92807	0.585000	0.79938	TCA		0.328	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1		
ZNF624	57547	broad.mit.edu	37	17	16525763	16525763	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16525763A>C	ENST00000311331.7	-	6	2528	c.2437T>G	c.(2437-2439)Tgt>Ggt	p.C813G		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	813					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.C813G(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCTTTTCCACATTCTTCACAT	0.403																																					p.C813G	NSCLC(186;1023 2134 13330 38202 39800)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2437G	17						.						122.0	120.0	121.0					17																	16525763		2203	4300	6503	16466488	SO:0001583	missense	57547	exon6			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2437T>G	17.37:g.16525763A>C	ENSP00000310472:p.Cys813Gly		16466488	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415901	0.42817	.	.	ENSG00000197566	ENST00000311331	D	0.85861	-2.04	3.34	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94542	0.8242	H	0.99336	4.52	0.36568	D	0.872812	D	0.69078	0.997	D	0.74023	0.982	D	0.93446	0.6798	9	0.87932	D	0	.	6.8261	0.23885	0.8832:0.0:0.1168:0.0	.	813	Q9P2J8	ZN624_HUMAN	G	813	ENSP00000310472:C813G	ENSP00000310472:C813G	C	-	1	0	ZNF624	16466488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.590000	0.67530	0.674000	0.31244	0.533000	0.62120	TGT		0.403	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
CCDC144A	9720	broad.mit.edu	37	17	16615032	16615032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16615032G>T	ENST00000360524.8	+	6	1694	c.1618G>T	c.(1618-1620)Gaa>Taa	p.E540*	CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E539*|RN7SL620P_ENST00000580704.1_RNA|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E540*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E540*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E540*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E260*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	540								p.E540*(1)									TAATAGCACAGAATTATCAGG	0.378																																					p.E540X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1618T	17						.						1.0	1.0	1.0					17																	16615032		803	1892	2695	16555757	SO:0001587	stop_gained	9720	exon6			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1618G>T	17.37:g.16615032G>T	ENSP00000353717:p.Glu540*		16555757	NM_014695	O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	27.7|27.7	4.852969|4.852969	0.91355|0.91355	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495|ENST00000328495	.|.	.|.	.|.	1.84|1.84	1.84|1.84	0.25277|0.25277	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41026	.|0.1141	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49437	.|-0.8940	.|3	0.24483|.	T|.	0.36|.	.|.	7.1379|7.1379	0.25539|0.25539	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	539;540;540;540;540;260;540|23	.|.	ENSP00000344740:E539X|.	E|Q	+|+	1|3	0|2	CCDC144A|CCDC144A	16555757|16555757	0.002000|0.002000	0.14202|0.14202	0.012000|0.012000	0.15200|0.15200	0.005000|0.005000	0.04900|0.04900	-0.018000|-0.018000	0.12568|0.12568	1.025000|1.025000	0.39708|0.39708	0.418000|0.418000	0.28097|0.28097	GAA|CAG		0.378	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
CCDC144A	9720	broad.mit.edu	37	17	16638085	16638085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:16638085G>T	ENST00000360524.8	+	12	2576	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*	RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E834*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E834*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E834*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E554*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	834								p.E834*(1)									GCTGAGACTGGAAATAGATAC	0.323																																					p.E834X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2500T	17						.						11.0	11.0	11.0					17																	16638085		1806	4050	5856	16578810	SO:0001587	stop_gained	9720	exon12			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2500G>T	17.37:g.16638085G>T	ENSP00000353717:p.Glu834*		16578810	NM_014695	O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.864837|5.864837	0.97043|0.97043	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000328495	.|.	.|.	.|.	2.08|2.08	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50667	.|0.1629	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59847	.|-0.7377	.|3	0.87932|.	D|.	0|.	.|.	9.8235|9.8235	0.40896|0.40896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	834;834;834;554|317	.|.	ENSP00000353717:E834X|.	E|W	+|+	1|3	0|0	CCDC144A|CCDC144A	16578810|16578810	1.000000|1.000000	0.71417|0.71417	0.515000|0.515000	0.27774|0.27774	0.107000|0.107000	0.19398|0.19398	4.112000|4.112000	0.57845|0.57845	1.153000|1.153000	0.42468|0.42468	0.393000|0.393000	0.25936|0.25936	GAA|TGG		0.323	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
COPS3	8533	broad.mit.edu	37	17	17168149	17168149	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:17168149C>A	ENST00000268717.5	-	6	694	c.588G>T	c.(586-588)aaG>aaT	p.K196N	COPS3_ENST00000539941.2_Missense_Mutation_p.K176N|COPS3_ENST00000439936.2_Missense_Mutation_p.K176N	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	196	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.K196N(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTCAAAGTTCTTCAGCCCAG	0.363																																					p.K196N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G588T	17						.						89.0	87.0	88.0					17																	17168149		2203	4300	6503	17108874	SO:0001583	missense	8533	exon6			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.588G>T	17.37:g.17168149C>A	ENSP00000268717:p.Lys196Asn		17108874	NM_003653	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504659	0.85176	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	T;T;T	0.62788	0.0;0.0;0.0	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83820	0.5337	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.85229	0.1031	10	0.46703	T	0.11	-25.4661	18.9546	0.92654	0.0:1.0:0.0:0.0	.	196	Q9UNS2	CSN3_HUMAN	N	196;176;196;220	ENSP00000268717:K196N;ENSP00000437606:K176N;ENSP00000409028:K196N	ENSP00000268717:K196N	K	-	3	2	COPS3	17108874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.644000	0.61397	2.718000	0.92993	0.655000	0.94253	AAG		0.363	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
COPS3	8533	broad.mit.edu	37	17	17171262	17171262	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:17171262T>G	ENST00000268717.5	-	5	484	c.378A>C	c.(376-378)caA>caC	p.Q126H	COPS3_ENST00000539941.2_Missense_Mutation_p.Q106H|COPS3_ENST00000439936.2_Missense_Mutation_p.Q106H	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	126					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.Q126H(1)		NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGTCTATGGCTTGCTTAAGGA	0.438																																					p.Q126H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A378C	17						.						266.0	195.0	219.0					17																	17171262		2203	4300	6503	17111987	SO:0001583	missense	8533	exon5			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.378A>C	17.37:g.17171262T>G	ENSP00000268717:p.Gln126His		17111987	NM_003653	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.189544	0.38707	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	T;T;T	0.64991	-0.13;-0.13;-0.13	5.48	3.23	0.37069	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	N	0.02539	-0.55	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.05649	-1.0872	10	0.39692	T	0.17	-12.8513	9.3387	0.38067	0.0:0.1475:0.0:0.8525	.	126	Q9UNS2	CSN3_HUMAN	H	126;106;126;150	ENSP00000268717:Q126H;ENSP00000437606:Q106H;ENSP00000409028:Q126H	ENSP00000268717:Q126H	Q	-	3	2	COPS3	17111987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.055000	0.49916	0.361000	0.24292	0.528000	0.53228	CAA		0.438	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2		
PEMT	10400	broad.mit.edu	37	17	17412849	17412849	+	Silent	SNP	G	G	A	rs564981683		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:17412849G>A	ENST00000395783.1	-	5	545	c.366C>T	c.(364-366)ttC>ttT	p.F122F	RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000395782.1_Silent_p.F122F|PEMT_ENST00000435340.2_Silent_p.F137F|PEMT_ENST00000255389.5_Silent_p.F159F|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395781.2_Silent_p.F159F	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	122					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)	p.F159F(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		TGAGGATCCCGAAGTAATCAC	0.607													G|||	0	0.0	0.0	0.0	5008	,	,		21545	0.0		0.0	False		,,,				2504	0.0				p.F159F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	17						.						145.0	111.0	123.0					17																	17412849		2203	4300	6503	17353574	SO:0001819	synonymous_variant	10400	exon5			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.366C>T	17.37:g.17412849G>A			17353574	NM_148172	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Silent	SNP	ENST00000395783.1	37	CCDS11187.1																																																																																				0.607	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131657.1	NM_007169	
RAI1	10743	broad.mit.edu	37	17	17698007	17698007	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:17698007A>C	ENST00000353383.1	+	3	2214	c.1745A>C	c.(1744-1746)gAc>gCc	p.D582A	RAI1_ENST00000261641.6_Missense_Mutation_p.D582A	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	582					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.D582A(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)		CTGCCGCTCGACAGCTTCTCC	0.637																																					p.D582A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1745C	17						.						77.0	77.0	77.0					17																	17698007		2203	4296	6499	17638732	SO:0001583	missense	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.1745A>C	17.37:g.17698007A>C	ENSP00000323074:p.Asp582Ala		17638732	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048348	0.55110	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.70282	-0.47;2.27;0.13	5.18	5.18	0.71444	.	0.067257	0.64402	D	0.000010	T	0.75295	0.3830	L	0.60455	1.87	0.43879	D	0.996493	D	0.60575	0.988	P	0.54759	0.76	T	0.72357	-0.4318	10	0.20046	T	0.44	.	15.0197	0.71621	1.0:0.0:0.0:0.0	.	582	Q7Z5J4	RAI1_HUMAN	A	582;582;582;582;582;534	ENSP00000323074:D582A;ENSP00000379120:D582A;ENSP00000261641:D582A	ENSP00000261641:D582A	D	+	2	0	RAI1	17638732	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	5.089000	0.64492	1.960000	0.56953	0.459000	0.35465	GAC		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
MYO15A	51168	broad.mit.edu	37	17	18034585	18034585	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18034585C>T	ENST00000205890.5	+	9	4409	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1357	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F1357F(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGAGTCCTTCGGTAATGCCA	0.572																																					p.F1357F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4071T	17						.						64.0	66.0	65.0					17																	18034585		1955	4181	6136	17975310	SO:0001819	synonymous_variant	51168	exon8			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4071C>T	17.37:g.18034585C>T			17975310	NM_016239	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.572	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO15A	51168	broad.mit.edu	37	17	18039745	18039745	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18039745G>T	ENST00000205890.5	+	14	4949	c.4611G>T	c.(4609-4611)gaG>gaT	p.E1537D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1537	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1537D(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAATGCGAGAGAAGATCTTCA	0.642																																					p.E1537D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4611T	17						.						68.0	76.0	73.0					17																	18039745		2186	4291	6477	17980470	SO:0001583	missense	51168	exon13			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4611G>T	17.37:g.18039745G>T	ENSP00000205890:p.Glu1537Asp		17980470	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460364	0.63401	.	.	ENSG00000091536	ENST00000205890	D	0.95980	-3.87	5.57	4.61	0.57282	Myosin head, motor domain (2);	.	.	.	.	D	0.94843	0.8334	M	0.61387	1.9	0.80722	D	1	P	0.41978	0.767	P	0.45138	0.471	D	0.94404	0.7625	9	0.56958	D	0.05	.	13.4963	0.61428	0.0746:0.0:0.9254:0.0	.	1537	Q9UKN7	MYO15_HUMAN	D	1537	ENSP00000205890:E1537D	ENSP00000205890:E1537D	E	+	3	2	MYO15A	17980470	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.570000	0.45981	1.371000	0.46172	-0.136000	0.14681	GAG		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO15A	51168	broad.mit.edu	37	17	18045511	18045511	+	Missense_Mutation	SNP	G	G	A	rs571036199		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18045511G>A	ENST00000205890.5	+	24	6106	c.5768G>A	c.(5767-5769)cGc>cAc	p.R1923H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1923	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R1923H(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCGATTCCGCTCTCTGCGC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.001				p.R1923H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5768A	17						.						41.0	44.0	43.0					17																	18045511		2176	4283	6459	17986236	SO:0001583	missense	51168	exon23			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5768G>A	17.37:g.18045511G>A	ENSP00000205890:p.Arg1923His		17986236	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229806	0.58777	.	.	ENSG00000091536	ENST00000205890	D	0.95821	-3.82	5.69	5.69	0.88448	.	.	.	.	.	D	0.90297	0.6965	L	0.49699	1.58	0.80722	D	1	P	0.36282	0.546	B	0.19666	0.026	D	0.87163	0.2216	9	0.14656	T	0.56	.	10.2718	0.43487	0.147:0.0:0.853:0.0	.	1923	Q9UKN7	MYO15_HUMAN	H	1923	ENSP00000205890:R1923H	ENSP00000205890:R1923H	R	+	2	0	MYO15A	17986236	0.995000	0.38212	1.000000	0.80357	0.889000	0.51656	1.528000	0.35985	2.690000	0.91761	0.655000	0.94253	CGC		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
MYO15A	51168	broad.mit.edu	37	17	18054450	18054450	+	Silent	SNP	G	G	A	rs371622693		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18054450G>A	ENST00000205890.5	+	39	7838	c.7500G>A	c.(7498-7500)ccG>ccA	p.P2500P	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2500	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P2500P(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCACAGCCGACGTCTGTAG	0.647																																					p.P2500P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7500A	17						.	G		0,4004		0,0,2002	119.0	134.0	129.0		7500	-4.7	0.1	17		129	1,8319		0,1,4159	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6161	AA,AG,GG		0.012,0.0,0.0081		2500/3531	18054450	1,12323	2002	4160	6162	17995175	SO:0001819	synonymous_variant	51168	exon38			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7500G>A	17.37:g.18054450G>A			17995175	NM_016239	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
FLII	2314	broad.mit.edu	37	17	18155057	18155057	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18155057G>C	ENST00000327031.4	-	12	1545	c.1320C>G	c.(1318-1320)gaC>gaG	p.D440E	FLII_ENST00000578558.1_Missense_Mutation_p.D439E|FLII_ENST00000545457.2_Missense_Mutation_p.D385E|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000379450.4_Missense_Mutation_p.D354E|FLII_ENST00000579294.1_Missense_Mutation_p.D429E	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	440					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.D440E(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCTTGGCCTGGTCATCCTGGG	0.612																																					p.D440E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1320G	17						.						143.0	131.0	135.0					17																	18155057		2203	4300	6503	18095782	SO:0001583	missense	2314	exon12			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1320C>G	17.37:g.18155057G>C	ENSP00000324573:p.Asp440Glu		18095782	NM_002018	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324473	0.41197	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.35236	1.32;1.4	5.78	4.79	0.61399	.	0.043989	0.85682	D	0.000000	T	0.53481	0.1799	M	0.65975	2.015	0.51233	D	0.999913	P;P;B;B;D	0.64830	0.702;0.702;0.42;0.232;0.994	B;B;B;B;D	0.72625	0.217;0.217;0.061;0.186;0.978	T	0.53330	-0.8454	10	0.07990	T	0.79	-29.7797	15.2029	0.73153	0.0683:0.0:0.9317:0.0	.	354;354;440;440;409	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	E	440;440;354	ENSP00000324573:D440E;ENSP00000368763:D354E	ENSP00000324573:D440E	D	-	3	2	FLII	18095782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.870000	0.48451	1.420000	0.47138	0.561000	0.74099	GAC		0.612	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
LGALS9C	654346	broad.mit.edu	37	17	18396139	18396139	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18396139G>A	ENST00000328114.6	+	10	971	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	LGALS9C_ENST00000583322.1_Missense_Mutation_p.R264Q|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R209Q|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	297	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)	p.R297Q(1)		NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGTCTGCCCCGAAAAATGCCC	0.582																																					p.R297Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890A	17						.						27.0	18.0	21.0					17																	18396139		2181	4023	6204	18336864	SO:0001583	missense	654346	exon10				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.890G>A	17.37:g.18396139G>A	ENSP00000329932:p.Arg297Gln		18336864	NM_001040078	B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.099580	0.37048	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.05513	3.43;3.43	2.26	1.21	0.21127	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.993975	0.08161	N	0.988449	T	0.04497	0.0123	N	0.20986	0.625	0.09310	N	1	B	0.27882	0.192	B	0.14023	0.01	T	0.44112	-0.9349	10	0.29301	T	0.29	.	7.9733	0.30140	0.0:0.0:0.7544:0.2456	.	297	Q6DKI2	LEG9C_HUMAN	Q	209;297	ENSP00000390286:R209Q;ENSP00000329932:R297Q	ENSP00000329932:R297Q	R	+	2	0	LGALS9C	18336864	0.033000	0.19621	0.000000	0.03702	0.712000	0.41017	2.325000	0.43840	0.464000	0.27142	0.184000	0.17185	CGA		0.582	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078	
TVP23B	51030	broad.mit.edu	37	17	18700945	18700945	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18700945A>G	ENST00000307767.8	+	4	593	c.294A>G	c.(292-294)gaA>gaG	p.E98E	TVP23B_ENST00000581733.1_Silent_p.E34E|TVP23B_ENST00000476139.1_Silent_p.E34E|TVP23B_ENST00000574226.1_Silent_p.E98E	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	98						integral component of membrane (GO:0016021)		p.E98E(1)									ACATTGATGAAGATGGAAAGA	0.313																																					p.E98E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A294G	17						.						59.0	59.0	59.0					17																	18700945		2188	4264	6452	18641670	SO:0001819	synonymous_variant	51030	exon4			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.294A>G	17.37:g.18700945A>G			18641670	NM_016078	A8K448|Q96HK5|Q9Y3E6	Silent	SNP	ENST00000307767.8	37	CCDS42274.1																																																																																				0.313	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	
SLC5A10	125206	broad.mit.edu	37	17	18923739	18923739	+	Missense_Mutation	SNP	G	G	A	rs140715864	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18923739G>A	ENST00000395645.3	+	15	1804	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	SLC5A10_ENST00000417251.2_Missense_Mutation_p.A560T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A566T|SLC5A10_ENST00000317977.6_Missense_Mutation_p.A566T|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A569T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A612T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	596					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A612T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCCTACTTCGCCTGACACTG	0.557																																					p.A612T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1834A	17						.						63.0	54.0	57.0					17																	18923739		2203	4300	6503	18864464	SO:0001583	missense	125206	exon15				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1786G>A	17.37:g.18923739G>A	ENSP00000379007:p.Ala596Thr		18864464	NM_152351	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687800	0.88639	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.94280	-3.39;-2.88;-3.39;-2.95;-2.79;-2.89	5.2	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.90759	3.145	0.47511	D	0.999447	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0	P;D;P;D;D	0.72625	0.892;0.978;0.787;0.95;0.971	D	0.97889	1.0296	10	0.87932	D	0	.	14.948	0.71047	0.0:0.0:0.8559:0.1441	.	560;569;596;612;566	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	T	566;612;566;560;596;569	ENSP00000324346:A566T;ENSP00000379008:A612T;ENSP00000379004:A566T;ENSP00000401875:A560T;ENSP00000379007:A596T;ENSP00000379005:A569T	ENSP00000324346:A566T	A	+	1	0	SLC5A10	18864464	1.000000	0.71417	0.980000	0.43619	0.762000	0.43233	6.487000	0.73633	1.406000	0.46857	0.651000	0.88453	GCC		0.557	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:19283132C>T	ENST00000308406.5	+	3	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	MAPK7_ENST00000571657.1_Intron|B9D1_ENST00000575403.1_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Silent_p.F90F|MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000395604.3_Silent_p.F90F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)	p.F90F(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527																																					p.F90F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	17						.						114.0	107.0	109.0					17																	19283132		2203	4300	6503	19223725	SO:0001819	synonymous_variant	5598	exon3			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.270C>T	17.37:g.19283132C>T			19223725	NM_139033	Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Silent	SNP	ENST00000308406.5	37	CCDS11206.1																																																																																				0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033	
SLC47A1	55244	broad.mit.edu	37	17	19480789	19480789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:19480789C>T	ENST00000270570.4	+	17	1722	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.R546*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Nonsense_Mutation_p.R292*|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.R244*|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.R546*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	546					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)	p.R546*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GGTGCTGCGGCGAGGGCTTCT	0.522																																					p.R546X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1636T	17						.						137.0	145.0	142.0					17																	19480789		2203	4300	6503	19421381	SO:0001587	stop_gained	55244	exon17				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1636C>T	17.37:g.19480789C>T	ENSP00000270570:p.Arg546*		19421381	NM_018242	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Nonsense_Mutation	SNP	ENST00000270570.4	37	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649845	0.47362	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.16	-0.0541	0.13815	.	0.072725	0.50627	D	0.000106	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8214	7.3471	0.26670	0.4232:0.4907:0.0:0.0861	.	.	.	.	X	546;546;546;221;258	.	ENSP00000270570:R546X	R	+	1	2	SLC47A1	19421381	0.953000	0.32496	0.013000	0.15412	0.279000	0.26890	0.245000	0.18142	0.162000	0.19483	0.462000	0.41574	CGA		0.522	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	
SLC47A2	146802	broad.mit.edu	37	17	19609977	19609977	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:19609977G>A	ENST00000325411.5	-	9	983	c.933C>T	c.(931-933)atC>atT	p.I311I	SLC47A2_ENST00000350657.5_Silent_p.I275I|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	311					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)	p.I311I(1)|p.I275I(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GGAAGCTCCCGATCTCATAGG	0.647																																					p.I275I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C825T	17						.						101.0	87.0	92.0					17																	19609977		2203	4300	6503	19550569	SO:0001819	synonymous_variant	146802	exon9			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.933C>T	17.37:g.19609977G>A			19550569	NM_001099646	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	CCDS11211.1																																																																																				0.647	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908	
AKAP10	11216	broad.mit.edu	37	17	19861512	19861512	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:19861512C>A	ENST00000225737.6	-	4	849	c.692G>T	c.(691-693)aGc>aTc	p.S231I	AKAP10_ENST00000395536.3_Missense_Mutation_p.S231I|AKAP10_ENST00000572155.1_5'Flank	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	231	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.S231I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATTCTGAGTGCTGTTAGTTCT	0.428																																					p.S231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692T	17						.						112.0	107.0	108.0					17																	19861512		2203	4300	6503	19802104	SO:0001583	missense	11216	exon4			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.692G>T	17.37:g.19861512C>A	ENSP00000225737:p.Ser231Ile		19802104	NM_007202	B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891304	0.17613	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.19394	2.15	6.08	-0.265	0.12946	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.271854	0.41097	N	0.000954	T	0.10895	0.0266	N	0.22421	0.69	0.09310	N	1	B;B;B	0.28971	0.0;0.229;0.162	B;B;B	0.27887	0.001;0.054;0.084	T	0.22452	-1.0216	10	0.30854	T	0.27	-1.3796	6.6987	0.23213	0.1261:0.4029:0.0:0.471	.	231;231;231	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	I	231	ENSP00000225737:S231I	ENSP00000225737:S231I	S	-	2	0	AKAP10	19802104	0.374000	0.25081	0.058000	0.19502	0.711000	0.40976	0.030000	0.13688	-0.295000	0.08960	-0.964000	0.02622	AGC		0.428	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202	
SPECC1	92521	broad.mit.edu	37	17	20107938	20107938	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:20107938G>T	ENST00000261503.5	+	4	627	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.K111N|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.K192N|SPECC1_ENST00000395529.3_Missense_Mutation_p.K192N|SPECC1_ENST00000395530.2_Missense_Mutation_p.K111N|SPECC1_ENST00000395522.2_Missense_Mutation_p.K111N	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	192					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.K192N(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGAACTAAAGAAATACAAAG	0.468																																					p.K111N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G333T	17						.						111.0	126.0	121.0					17																	20107938		2203	4300	6503	20048530	SO:0001583	missense	92521	exon2			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.576G>T	17.37:g.20107938G>T	ENSP00000261503:p.Lys192Asn		20048530	NM_001033555	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434098	0.43224	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.67698	-0.28;2.81;2.81;2.81	4.82	3.84	0.44239	.	0.140928	0.64402	D	0.000003	T	0.67552	0.2905	L	0.53249	1.67	0.80722	D	1	P;P;P;P	0.52061	0.95;0.95;0.95;0.749	P;P;P;B	0.52554	0.702;0.702;0.702;0.269	T	0.68957	-0.5272	10	0.66056	D	0.02	-37.6827	7.3299	0.26575	0.2086:0.0:0.7914:0.0	.	111;111;192;192	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	N	192;192;192;111;111;111	ENSP00000261503:K192N;ENSP00000378900:K192N;ENSP00000378893:K111N;ENSP00000378896:K111N	ENSP00000261503:K192N	K	+	3	2	SPECC1	20048530	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.478000	0.45189	1.314000	0.45095	0.655000	0.94253	AAG		0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	
CCDC144NL	339184	broad.mit.edu	37	17	20799146	20799146	+	Missense_Mutation	SNP	T	T	C	rs199662233		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:20799146T>C	ENST00000327925.5	-	1	307	c.188A>G	c.(187-189)aAg>aGg	p.K63R	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	63								p.K63R(1)		large_intestine(3)|lung(3)|skin(1)	7						CTCACCGTGCTTGCTCTCGCT	0.652																																					p.K63R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	17						.						76.0	85.0	82.0					17																	20799146		2203	4300	6503	20739738	SO:0001583	missense	339184	exon1				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.188A>G	17.37:g.20799146T>C	ENSP00000328054:p.Lys63Arg		20739738	NM_001004306		Missense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	t	8.405	0.842886	0.16963	.	.	ENSG00000205212	ENST00000327925	T	0.20332	2.08	0.63	0.63	0.17693	.	.	.	.	.	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	P	0.39424	0.673	B	0.28916	0.096	T	0.21415	-1.0246	8	0.52906	T	0.07	.	.	.	.	.	63	Q6NUI1	C144L_HUMAN	R	63	ENSP00000328054:K63R	ENSP00000328054:K63R	K	-	2	0	CCDC144NL	20739738	0.023000	0.18921	0.001000	0.08648	0.016000	0.09150	0.163000	0.16520	0.526000	0.28541	0.130000	0.15844	AAG		0.652	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
TMEM11	8834	broad.mit.edu	37	17	21101654	21101654	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:21101654C>T	ENST00000317635.5	-	2	1033	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	TMEM11_ENST00000584432.1_5'UTR	NM_003876.2	NP_003867.1	P17152	TMM11_HUMAN	transmembrane protein 11	188					mitochondrion organization (GO:0007005)	integral component of mitochondrial inner membrane (GO:0031305)|integral component of plasma membrane (GO:0005887)		p.E188K(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GCATAGAGTTCGTAAATCTTC	0.532																																					p.E188K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	17						.						162.0	146.0	151.0					17																	21101654		2203	4300	6503	21042246	SO:0001583	missense	8834	exon2			BC002819	CCDS11216.1	17p11.1	2011-08-12	2005-09-08	2005-09-08		ENSG00000178307			16823	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 35"""	C17orf35		2110658, 21274005	Standard	NM_003876		Approved	PMI, PM1	uc002gyp.2	P17152		ENST00000317635.5:c.562G>A	17.37:g.21101654C>T	ENSP00000319992:p.Glu188Lys		21042246	NM_003876	Q53YB2	Missense_Mutation	SNP	ENST00000317635.5	37	CCDS11216.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014873	0.54468	.	.	ENSG00000178307	ENST00000317635	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	N	0.25647	0.755	0.80722	D	1	B	0.19073	0.033	B	0.13407	0.009	T	0.45220	-0.9276	9	0.44086	T	0.13	-25.6636	20.0067	0.97435	0.0:1.0:0.0:0.0	.	188	P17152	TMM11_HUMAN	K	188	.	ENSP00000319992:E188K	E	-	1	0	TMEM11	21042246	1.000000	0.71417	0.977000	0.42913	0.668000	0.39293	7.345000	0.79337	2.731000	0.93534	0.650000	0.86243	GAA		0.532	TMEM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444150.2	NM_003876	
TSR1	55720	broad.mit.edu	37	17	2227493	2227493	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2227493C>A	ENST00000301364.5	-	15	3491	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	804					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E804D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAATCCATTACTCCATGCCCC	0.463																																					p.E804D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2412T	17						.						156.0	148.0	151.0					17																	2227493		2203	4300	6503	2174243	SO:0001583	missense	55720	exon15			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2412G>T	17.37:g.2227493C>A	ENSP00000301364:p.Glu804Asp		2174243	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	3.299	-0.143284	0.06669	.	.	ENSG00000167721	ENST00000301364	T	0.11604	2.76	4.92	-1.41	0.08941	.	0.148138	0.64402	D	0.000016	T	0.04588	0.0125	N	0.08118	0	0.33046	D	0.532069	B	0.29531	0.247	B	0.28553	0.091	T	0.29549	-1.0008	10	0.38643	T	0.18	-21.6177	8.9792	0.35955	0.0:0.4374:0.0:0.5626	.	804	Q2NL82	TSR1_HUMAN	D	804	ENSP00000301364:E804D	ENSP00000301364:E804D	E	-	3	2	TSR1	2174243	1.000000	0.71417	0.214000	0.23707	0.045000	0.14185	0.342000	0.19926	-0.088000	0.12506	0.655000	0.94253	GAG		0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
TSR1	55720	broad.mit.edu	37	17	2236935	2236935	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2236935C>T	ENST00000301364.5	-	6	2136	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	TSR1_ENST00000576112.2_Missense_Mutation_p.E337K	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	353					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E353K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCAAGGATTCCTGTCTACCA	0.483																																					p.E353K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	17						.						175.0	154.0	161.0					17																	2236935		2203	4300	6503	2183685	SO:0001583	missense	55720	exon6			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1057G>A	17.37:g.2236935C>T	ENSP00000301364:p.Glu353Lys		2183685	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975933	0.97162	.	.	ENSG00000167721	ENST00000301364	T	0.13420	2.59	5.98	5.98	0.97165	.	0.042967	0.85682	D	0.000000	T	0.38585	0.1046	M	0.79123	2.44	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	T	0.02917	-1.1094	10	0.49607	T	0.09	-23.6603	19.4434	0.94836	0.0:1.0:0.0:0.0	.	353	Q2NL82	TSR1_HUMAN	K	353	ENSP00000301364:E353K	ENSP00000301364:E353K	E	-	1	0	TSR1	2183685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.403000	0.66338	2.839000	0.97877	0.650000	0.86243	GAA		0.483	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
MAP2K3	5606	broad.mit.edu	37	17	21215553	21215553	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:21215553G>A	ENST00000342679.4	+	10	1123	c.874G>A	c.(874-876)Gac>Aac	p.D292N	MAP2K3_ENST00000316920.6_Missense_Mutation_p.D263N|MAP2K3_ENST00000361818.5_Missense_Mutation_p.D263N	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.D296N(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTCCCAGCCGACCGTTTCTC	0.647																																					p.D263N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	17						.						66.0	60.0	62.0					17																	21215553		2203	4300	6503	21156146	SO:0001583	missense	5606	exon10			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.874G>A	17.37:g.21215553G>A	ENSP00000345083:p.Asp292Asn		21156146	NM_002756	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716609	0.68844	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.66815	-0.23;-0.23	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.154346	0.41605	D	0.000854	T	0.57533	0.2060	L	0.28344	0.845	0.58432	D	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.48281	-0.9049	10	0.28530	T	0.3	-36.02	20.3507	0.98813	0.0:0.0:1.0:0.0	.	292	P46734	MP2K3_HUMAN	N	292;263;263;296	ENSP00000345083:D292N;ENSP00000355081:D263N	ENSP00000319139:D296N	D	+	1	0	MAP2K3	21156146	1.000000	0.71417	0.790000	0.31976	0.793000	0.44817	7.783000	0.85696	2.808000	0.96608	0.655000	0.94253	GAC		0.647	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
NOS2	4843	broad.mit.edu	37	17	26100226	26100226	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26100226C>A	ENST00000313735.6	-	13	1753	c.1520G>T	c.(1519-1521)aGa>aTa	p.R507I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	507					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.R507I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TCTCTTGGGTCTCCGCTTCTC	0.527																																					p.R507I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1520T	17						.						334.0	288.0	304.0					17																	26100226		2203	4300	6503	23124353	SO:0001583	missense	4843	exon13			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1520G>T	17.37:g.26100226C>A	ENSP00000327251:p.Arg507Ile		23124353	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959961	0.53400	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01804	4.63	5.41	3.42	0.39159	.	0.268407	0.37261	N	0.002180	T	0.03434	0.0099	M	0.74258	2.255	0.51767	D	0.999935	B;P	0.34587	0.257;0.458	B;B	0.36885	0.142;0.235	T	0.37619	-0.9698	10	0.66056	D	0.02	.	8.0979	0.30840	0.0:0.7511:0.0:0.2489	.	507;507	F8WEM3;P35228	.;NOS2_HUMAN	I	507;468;507	ENSP00000327251:R507I	ENSP00000305638:R507I	R	-	2	0	NOS2	23124353	0.795000	0.28851	0.365000	0.25901	0.643000	0.38383	1.845000	0.39279	0.659000	0.30945	0.561000	0.74099	AGA		0.527	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
METTL16	79066	broad.mit.edu	37	17	2367631	2367631	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2367631C>T	ENST00000263092.6	-	6	726	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	200							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R200Q(4)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCGAGGATTTCGTGAGTTTAC	0.393																																					p.R200Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G599A	17						.						112.0	99.0	103.0					17																	2367631		1841	4083	5924	2314381	SO:0001583	missense	79066	exon6			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.599G>A	17.37:g.2367631C>T	ENSP00000263092:p.Arg200Gln		2314381	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624875	0.96660	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.50277	0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.964;0.994	T	0.79135	-0.1928	10	0.87932	D	0	.	17.3068	0.87197	0.0:1.0:0.0:0.0	.	200;200	Q86W50-2;Q86W50	.;MET16_HUMAN	Q	200	ENSP00000263092:R200Q	ENSP00000263092:R200Q	R	-	2	0	METTL16	2314381	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.770000	0.85390	2.683000	0.91414	0.591000	0.81541	CGA		0.393	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
METTL16	79066	broad.mit.edu	37	17	2381121	2381121	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2381121C>A	ENST00000263092.6	-	3	314	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	METTL16_ENST00000571669.2_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	63							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.D63Y(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AGTCCAAAATCTTCCCTTAGG	0.398																																					p.D63Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G187T	17						.						135.0	130.0	131.0					17																	2381121		1839	4076	5915	2327871	SO:0001583	missense	79066	exon3			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.187G>T	17.37:g.2381121C>A	ENSP00000263092:p.Asp63Tyr		2327871	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855472	0.91355	.	.	ENSG00000127804	ENST00000263092;ENST00000399834	T	0.19806	2.12	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.46567	1.45	0.80722	D	1	P;D	0.71674	0.826;0.998	P;D	0.73380	0.519;0.98	T	0.01508	-1.1337	10	0.44086	T	0.13	-2.1597	18.1377	0.89624	0.0:1.0:0.0:0.0	.	63;63	Q86W50-2;Q86W50	.;MET16_HUMAN	Y	63	ENSP00000263092:D63Y	ENSP00000263092:D63Y	D	-	1	0	METTL16	2327871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.890000	0.99128	0.650000	0.86243	GAT		0.398	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
NOS2	4843	broad.mit.edu	37	17	26109101	26109101	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26109101C>T	ENST00000313735.6	-	7	895	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	221			R -> W (in dbSNP:rs3730017). {ECO:0000269|Ref.10}.		arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.R221Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AAACATTTCCCGGGCAGTGGA	0.552																																					p.R221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	17						.						158.0	111.0	127.0					17																	26109101		2203	4300	6503	23133228	SO:0001583	missense	4843	exon7			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.662G>A	17.37:g.26109101C>T	ENSP00000327251:p.Arg221Gln		23133228	NM_000625	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	2.933	-0.220631	0.06061	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.21734	1.99	5.38	1.58	0.23477	Nitric oxide synthase, oxygenase domain (3);	0.705400	0.13460	N	0.386223	T	0.08537	0.0212	N	0.05487	-0.04	0.24640	N	0.993578	B;B	0.12630	0.005;0.006	B;B	0.04013	0.001;0.001	T	0.40021	-0.9585	10	0.15952	T	0.53	.	5.4132	0.16360	0.0:0.1794:0.1436:0.6769	.	221;221	F8WEM3;P35228	.;NOS2_HUMAN	Q	221	ENSP00000327251:R221Q	ENSP00000305638:R221Q	R	-	2	0	NOS2	23133228	1.000000	0.71417	0.848000	0.33437	0.463000	0.32649	2.305000	0.43664	-0.027000	0.13873	0.484000	0.47621	CGG		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26449740T>C	ENST00000407008.3	+	2	1288	c.570T>C	c.(568-570)tgT>tgC	p.C190C		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for interaction with TAB2. {ECO:0000250}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.C190C(2)|p.C178C(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGTTGTGTTTTTTTAAGC	0.388																																					p.C190C												.	.	4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)	c.T570C	17						.						143.0	142.0	142.0					17																	26449740		2203	4300	6503	23473867	SO:0001819	synonymous_variant	51701	exon2			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"""nemo like kinase"""			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.570T>C	17.37:g.26449740T>C			23473867	NM_016231	B2RCX1|Q2PNI9|Q6P2A3	Silent	SNP	ENST00000407008.3	37	CCDS11224.2																																																																																				0.388	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231	
TNFAIP1	7126	broad.mit.edu	37	17	26669303	26669303	+	Silent	SNP	C	C	T	rs560731179		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26669303C>T	ENST00000226225.2	+	6	816	c.549C>T	c.(547-549)atC>atT	p.I183I	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Silent_p.I79I	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	183					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)	p.I183I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGAAAAACATCGAGCTGTTTG	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20396	0.0		0.0	False		,,,				2504	0.0				p.I183I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549T	17						.						101.0	83.0	89.0					17																	26669303		2203	4300	6503	23693430	SO:0001819	synonymous_variant	7126	exon6				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.549C>T	17.37:g.26669303C>T			23693430	NM_021137	B7Z6M4|Q5TZQ1	Silent	SNP	ENST00000226225.2	37	CCDS11227.1																																																																																				0.542	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137	
POLDIP2	26073	broad.mit.edu	37	17	26680800	26680800	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26680800C>T	ENST00000540200.1	-	5	355	c.356G>A	c.(355-357)gGc>gAc	p.G119D	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	120					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAGCCATGGCCAGCAGGGTT	0.532																																					p.A120T												.	.	0			c.G358A	17						.						184.0	176.0	178.0					17																	26680800		1990	4176	6166	23704927	SO:0001583	missense	26073	exon4			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.356G>A	17.37:g.26680800C>T	ENSP00000475924:p.Gly119Asp		23704927	NM_015584	B2R846|Q96JE4	Missense_Mutation	SNP	ENST00000540200.1	37																																																																																					0.532	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015584	
VTN	7448	broad.mit.edu	37	17	26696573	26696573	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26696573C>T	ENST00000226218.4	-	3	1102	c.484G>A	c.(484-486)Gac>Aac	p.D162N	CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000438614.1_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000457710.3_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	162					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.D162N(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GTGAAGGCGTCGAAGGGCTTC	0.627																																					p.D162N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	17						.						56.0	55.0	55.0					17																	26696573		2203	4300	6503	23720700	SO:0001583	missense	7448	exon3			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.484G>A	17.37:g.26696573C>T	ENSP00000226218:p.Asp162Asn		23720700	NM_000638	B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000113	0.93227	.	.	ENSG00000255604	ENST00000226218	T	0.08282	3.11	5.92	5.92	0.95590	Hemopexin/matrixin (2);	0.042797	0.85682	D	0.000000	T	0.25717	0.0626	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.00047	-1.2208	10	0.46703	T	0.11	-33.8933	15.4562	0.75314	0.0:0.9321:0.0:0.0679	.	162	P04004	VTNC_HUMAN	N	162	ENSP00000226218:D162N	ENSP00000226218:D162N	D	-	1	0	AC002094.1	23720700	1.000000	0.71417	0.993000	0.49108	0.736000	0.42039	3.545000	0.53648	2.804000	0.96469	0.655000	0.94253	GAC		0.627	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638	
SLC13A2	9058	broad.mit.edu	37	17	26817510	26817510	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26817510C>A	ENST00000314669.5	+	3	690	c.270C>A	c.(268-270)ttC>ttA	p.F90L	SLC13A2_ENST00000444914.3_Missense_Mutation_p.F139L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.F19L|SLC13A2_ENST00000545060.1_Missense_Mutation_p.F47L	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	90					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.F90L(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)	ACCTCCTGTTCTTCGGGGGGC	0.642																																					p.F47L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C141A	17						.						125.0	113.0	117.0					17																	26817510		2203	4300	6503	23841637	SO:0001583	missense	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.270C>A	17.37:g.26817510C>A	ENSP00000316202:p.Phe90Leu		23841637	NM_001145976	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857497	0.32791	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	5.58	1.03	0.20045	.	0.089365	0.85682	D	0.000000	T	0.10035	0.0246	M	0.77486	2.375	0.52501	D	0.999957	D;P;P;D;P	0.71674	0.964;0.932;0.828;0.998;0.698	P;P;P;D;P	0.67725	0.797;0.777;0.654;0.953;0.777	T	0.03413	-1.1039	10	0.40728	T	0.16	-4.1499	6.1602	0.20360	0.1184:0.5854:0.0:0.2962	.	47;139;46;19;90	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	L	90;139;47;46;19	ENSP00000316202:F90L;ENSP00000392411:F139L;ENSP00000441935:F47L;ENSP00000440802:F19L	ENSP00000316202:F90L	F	+	3	2	SLC13A2	23841637	0.017000	0.18338	0.083000	0.20561	0.056000	0.15407	0.321000	0.19558	-0.013000	0.14199	-1.000000	0.02509	TTC		0.642	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
SLC13A2	9058	broad.mit.edu	37	17	26820598	26820598	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26820598G>T	ENST00000314669.5	+	7	1308	c.888G>T	c.(886-888)aaG>aaT	p.K296N	SLC13A2_ENST00000444914.3_Missense_Mutation_p.K345N|SLC13A2_ENST00000537681.1_Missense_Mutation_p.K225N|SLC13A2_ENST00000545060.1_Missense_Mutation_p.K253N	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	296					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.K296N(2)|p.K345N(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)	GCTTCCGGAAGAACTTTGGCA	0.617																																					p.K253N												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G759T	17						.						37.0	35.0	36.0					17																	26820598		2203	4300	6503	23844725	SO:0001583	missense	9058	exon6			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.888G>T	17.37:g.26820598G>T	ENSP00000316202:p.Lys296Asn		23844725	NM_001145976	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585584	0.86748	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.7	3.72	0.42706	.	0.138901	0.64402	D	0.000004	T	0.12220	0.0297	L	0.59912	1.85	0.53688	D	0.999976	D;P;D;D;D	0.76494	0.999;0.795;0.98;0.995;0.993	D;P;P;D;P	0.70935	0.971;0.596;0.876;0.92;0.899	T	0.14504	-1.0470	10	0.22109	T	0.4	-6.5767	13.0744	0.59079	0.0789:0.0:0.9211:0.0	.	253;345;252;225;296	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	N	296;345;253;252;225	ENSP00000316202:K296N;ENSP00000392411:K345N;ENSP00000441935:K253N;ENSP00000440802:K225N	ENSP00000316202:K296N	K	+	3	2	SLC13A2	23844725	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.180000	0.58296	1.106000	0.41623	0.449000	0.29647	AAG		0.617	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
SLC13A2	9058	broad.mit.edu	37	17	26820713	26820713	+	Missense_Mutation	SNP	C	C	A	rs377179409		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26820713C>A	ENST00000314669.5	+	7	1423	c.1003C>A	c.(1003-1005)Cta>Ata	p.L335I	SLC13A2_ENST00000444914.3_Missense_Mutation_p.L384I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L264I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L292I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	335					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.L335I(2)|p.L384I(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)	CATCAGCATCCTATTCGTCAT	0.572																																					p.L292I												.	.	3	Substitution - Missense(3)	breast(2)|large_intestine(1)	c.C874A	17						.						71.0	68.0	69.0					17																	26820713		2203	4300	6503	23844840	SO:0001583	missense	9058	exon6			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.1003C>A	17.37:g.26820713C>A	ENSP00000316202:p.Leu335Ile		23844840	NM_001145976	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	6.296	0.422770	0.11928	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03553	3.89;3.89;3.89;3.89	4.5	-0.308	0.12773	.	0.360682	0.31847	N	0.006962	T	0.01905	0.0060	N	0.11341	0.13	0.36982	D	0.894324	B;B;B;B;B	0.28233	0.204;0.087;0.005;0.065;0.022	B;B;B;B;B	0.30572	0.084;0.117;0.057;0.05;0.057	T	0.54899	-0.8224	10	0.24483	T	0.36	-0.9846	5.8809	0.18854	0.1328:0.64:0.0:0.2272	.	292;384;291;264;335	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	I	335;384;292;291;264	ENSP00000316202:L335I;ENSP00000392411:L384I;ENSP00000441935:L292I;ENSP00000440802:L264I	ENSP00000316202:L335I	L	+	1	2	SLC13A2	23844840	0.020000	0.18652	0.030000	0.17652	0.001000	0.01503	0.288000	0.18939	0.103000	0.17682	-0.391000	0.06502	CTA		0.572	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
ALDOC	230	broad.mit.edu	37	17	26901108	26901108	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26901108C>T	ENST00000226253.4	-	7	1251	c.776G>A	c.(775-777)cGc>cAc	p.R259H	ALDOC_ENST00000395319.3_Missense_Mutation_p.R231H|PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.R259H|PIGS_ENST00000395346.2_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	259					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.R259H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGGCACAGTGCGACGCAGGGC	0.607																																					p.R259H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	17						.						127.0	128.0	128.0					17																	26901108		2203	4300	6503	23925235	SO:0001583	missense	230	exon7			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.776G>A	17.37:g.26901108C>T	ENSP00000226253:p.Arg259His		23925235	NM_005165	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707263	0.68615	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.89681	-2.55;-2.55;-2.55	5.28	5.28	0.74379	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	M	0.65320	2	0.80722	D	1	B;D	0.54964	0.208;0.969	B;P	0.45428	0.11;0.48	D	0.91018	0.4855	10	0.87932	D	0	-8.4487	18.0486	0.89341	0.0:1.0:0.0:0.0	.	231;259	A8MVZ9;P09972	.;ALDOC_HUMAN	H	231;259;259	ENSP00000378729:R231H;ENSP00000226253:R259H;ENSP00000378731:R259H	ENSP00000226253:R259H	R	-	2	0	ALDOC	23925235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.810000	0.86072	2.637000	0.89404	0.555000	0.69702	CGC		0.607	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4		
SPAG5	10615	broad.mit.edu	37	17	26912340	26912340	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26912340C>A	ENST00000321765.5	-	9	2282	c.1950G>T	c.(1948-1950)ctG>ctT	p.L650L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	650	Gln-rich.|Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.L650L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TACTCACATCCAGTTGCATGG	0.468																																					p.L650L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1950T	17						.						120.0	106.0	111.0					17																	26912340		2203	4300	6503	23936467	SO:0001819	synonymous_variant	10615	exon9			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1950G>T	17.37:g.26912340C>A			23936467	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Silent	SNP	ENST00000321765.5	37	CCDS32594.1																																																																																				0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
KIAA0100	9703	broad.mit.edu	37	17	26947571	26947571	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26947571C>A	ENST00000528896.2	-	29	5394	c.5320G>T	c.(5320-5322)Gac>Tac	p.D1774Y	KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1631Y|KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1631Y	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1774						extracellular region (GO:0005576)		p.D1774Y(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGACAATGTCCAGGATCATG	0.493																																					p.D1774Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5320T	17						.						161.0	134.0	143.0					17																	26947571		2203	4300	6503	23971698	SO:0001583	missense	9703	exon29			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5320G>T	17.37:g.26947571C>A	ENSP00000436773:p.Asp1774Tyr		23971698	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078774	0.76528	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.48522	0.81;0.81	5.53	5.53	0.82687	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61739	-0.7001	10	0.09843	T	0.71	.	19.0648	0.93106	0.0:1.0:0.0:0.0	.	1774	Q14667	K0100_HUMAN	Y	1774;1744;1774;1631	ENSP00000436773:D1774Y;ENSP00000446443:D1631Y	ENSP00000005905:D1774Y	D	-	1	0	KIAA0100	23971698	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.374000	0.79633	2.611000	0.88343	0.462000	0.41574	GAC		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
KIAA0100	9703	broad.mit.edu	37	17	26958596	26958596	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26958596C>A	ENST00000528896.2	-	23	4274	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	KIAA0100_ENST00000389003.3_Missense_Mutation_p.E1257D|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E1257D|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1400						extracellular region (GO:0005576)		p.E1400D(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GATCAGCATTCTCTTCAGTGG	0.537																																					p.E1400D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4200T	17						.						112.0	77.0	89.0					17																	26958596		2203	4300	6503	23982723	SO:0001583	missense	9703	exon23			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4200G>T	17.37:g.26958596C>A	ENSP00000436773:p.Glu1400Asp		23982723	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302425	0.60195	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.24538	1.86;1.85	5.81	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	L	0.57536	1.79	0.58432	D	0.999999	D	0.63880	0.993	D	0.70016	0.967	T	0.18903	-1.0322	10	0.23891	T	0.37	.	11.1395	0.48394	0.0:0.8589:0.0:0.1411	.	1400	Q14667	K0100_HUMAN	D	1400;1370;1400;1257	ENSP00000436773:E1400D;ENSP00000446443:E1257D	ENSP00000005905:E1400D	E	-	3	2	KIAA0100	23982723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.973000	0.40550	1.449000	0.47699	0.650000	0.86243	GAG		0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
KIAA0100	9703	broad.mit.edu	37	17	26961566	26961566	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:26961566T>C	ENST00000528896.2	-	16	3113	c.3039A>G	c.(3037-3039)cgA>cgG	p.R1013R	KIAA0100_ENST00000389003.3_Silent_p.R870R|KIAA0100_ENST00000544884.1_Silent_p.R870R|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1013						extracellular region (GO:0005576)		p.R1013R(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACTTGAGCATTCGACACCACT	0.502																																					p.R1013R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3039G	17						.						89.0	84.0	86.0					17																	26961566		2203	4300	6503	23985693	SO:0001819	synonymous_variant	9703	exon16			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3039A>G	17.37:g.26961566T>C			23985693	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																				0.502	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
SUPT6H	6830	broad.mit.edu	37	17	27002084	27002084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27002084G>T	ENST00000314616.6	+	5	725	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.E148*|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	148	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E148*(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATTGCGGAAGAAATCTTCCA	0.512																																					p.E148X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G442T	17						.						81.0	76.0	78.0					17																	27002084		2203	4300	6503	24026211	SO:0001587	stop_gained	6830	exon5			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.442G>T	17.37:g.27002084G>T	ENSP00000319104:p.Glu148*		24026211	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	37	6.171950	0.97348	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-19.3607	15.69	0.77442	0.0:0.0:0.8619:0.138	.	.	.	.	X	148	.	ENSP00000319104:E148X	E	+	1	0	SUPT6H	24026211	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.010000	0.93611	1.345000	0.45676	0.655000	0.94253	GAA		0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
NEK8	284086	broad.mit.edu	37	17	27061086	27061086	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27061086C>T	ENST00000268766.6	+	2	167	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R45W(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAAGGAAGAGCGGCAGGCAGC	0.527																																					p.R45W	NSCLC(6;19 293 14866 25253 49845)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	17						.						108.0	96.0	100.0					17																	27061086		2203	4300	6503	24085213	SO:0001583	missense	284086	exon2			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.133C>T	17.37:g.27061086C>T	ENSP00000268766:p.Arg45Trp		24085213	NM_178170	A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236905	0.79800	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.67171	-0.25;-0.25	4.92	-0.0942	0.13646	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83942	0.0312	10	0.87932	D	0	.	13.7296	0.62779	0.5733:0.4267:0.0:0.0	.	45	Q86SG6	NEK8_HUMAN	W	45	ENSP00000465859:R45W;ENSP00000268766:R45W	ENSP00000268766:R45W	R	+	1	2	NEK8	24085213	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	1.511000	0.35801	0.050000	0.15949	0.313000	0.20887	CGG		0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		
FAM222B	55731	broad.mit.edu	37	17	27086875	27086875	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27086875C>A	ENST00000341217.5	-	3	317	c.102G>T	c.(100-102)atG>atT	p.M34I	FAM222B_ENST00000581381.1_Intron|FAM222B_ENST00000581407.1_Missense_Mutation_p.M34I|FAM222B_ENST00000452648.3_Missense_Mutation_p.M34I|FAM222B_ENST00000582059.1_Intron|FAM222B_ENST00000577682.1_Intron|FAM222B_ENST00000583953.1_Intron|FAM222B_ENST00000582266.1_Intron|FAM222B_ENST00000583522.1_Intron	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	34								p.M34I(2)									GAGCAGTTCTCATTTTCTGTG	0.498																																					p.M34I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G102T	17						.						46.0	44.0	45.0					17																	27086875		1930	4114	6044	24111001	SO:0001583	missense	55731	exon3			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.102G>T	17.37:g.27086875C>A	ENSP00000343115:p.Met34Ile		24111001	NM_001077498	Q9H6F3|Q9NVJ4|Q9NXN6	Missense_Mutation	SNP	ENST00000341217.5	37	CCDS45637.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630810	0.28978	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	T;T	0.42131	0.98;0.98	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.64404	1.975	0.80722	D	1	P	0.52577	0.954	D	0.63597	0.916	T	0.64373	-0.6423	10	0.72032	D	0.01	-4.3232	16.7194	0.85406	0.0:1.0:0.0:0.0	.	34	Q8WU58	CQ063_HUMAN	I	34	ENSP00000343115:M34I;ENSP00000413645:M34I	ENSP00000343115:M34I	M	-	3	0	C17orf63	24111001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.265000	0.78442	2.504000	0.84457	0.561000	0.74099	ATG		0.498	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446703.1	NM_018182	
SEZ6	124925	broad.mit.edu	37	17	27284490	27284490	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27284490G>A	ENST00000317338.12	-	12	2798	c.2370C>T	c.(2368-2370)ccC>ccT	p.P790P	SEZ6_ENST00000442608.3_Silent_p.P790P|SEZ6_ENST00000360295.9_Silent_p.P790P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	790	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.P790P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			TGGCCCCCACGGGAAACTTGG	0.597																																					p.P790P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2370T	17						.						52.0	60.0	58.0					17																	27284490		1950	4135	6085	24308616	SO:0001819	synonymous_variant	124925	exon12			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2370C>T	17.37:g.27284490G>A			24308616	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	CCDS45639.1																																																																																				0.597	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		
SEZ6	124925	broad.mit.edu	37	17	27287584	27287584	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27287584G>T	ENST00000317338.12	-	7	1943	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L	SEZ6_ENST00000442608.3_Missense_Mutation_p.F505L|SEZ6_ENST00000360295.9_Missense_Mutation_p.F505L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	505	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.F505L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAACAAAGAAGTGTTTGC	0.602																																					p.F505L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1515A	17						.						36.0	39.0	38.0					17																	27287584		2007	4144	6151	24311710	SO:0001583	missense	124925	exon7			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1515C>A	17.37:g.27287584G>T	ENSP00000312942:p.Phe505Leu		24311710	NM_001098635	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.155|6.155	0.396725|0.396725	0.11638|0.11638	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381|ENST00000539265	T;T|.	0.13196|.	2.61;2.61|.	4.15|4.15	4.15|4.15	0.48705|0.48705	CUB (5);|.	0.072277|.	0.64402|.	D|.	0.000019|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.00030|0.00030	-2.61|-2.61	0.80722|0.80722	D|D	1|1	B;B|.	0.27625|.	0.183;0.029|.	B;B|.	0.26416|.	0.069;0.037|.	T|T	0.36939|0.36939	-0.9727|-0.9727	10|5	0.02654|.	T|.	1|.	.|.	14.3201|14.3201	0.66479|0.66479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	505;505|.	Q53EL9-3;Q53EL9|.	.;SEZ6_HUMAN|.	L|Y	505;505;380;505|92	ENSP00000403784:F505L;ENSP00000353440:F505L|.	ENSP00000312942:F380L|.	F|S	-|-	3|2	2|0	SEZ6|SEZ6	24311710|24311710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	3.498000|3.498000	0.53302|0.53302	2.331000|2.331000	0.79229|0.79229	0.305000|0.305000	0.20034|0.20034	TTC|TCT		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		
MYO18A	399687	broad.mit.edu	37	17	27422017	27422017	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27422017C>A	ENST00000527372.1	-	29	4626	c.4446G>T	c.(4444-4446)gaG>gaT	p.E1482D	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1482D|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1482D|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1482D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1482					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E1482D(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTGCAGCTTCTCCCGCTGCA	0.637																																					p.E1482D	Esophageal Squamous(182;472 2015 7001 15270 22562)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4446T	17						.						20.0	23.0	22.0					17																	27422017		2086	4221	6307	24446143	SO:0001583	missense	399687	exon29			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4446G>T	17.37:g.27422017C>A	ENSP00000437073:p.Glu1482Asp		24446143	NM_203318	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074318	0.76415	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.77229	-1.08;1.21;-1.08;-1.08	5.8	5.8	0.92144	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	L	0.56199	1.76	0.47905	D	0.999546	B;B;B;B;B	0.26258	0.145;0.037;0.096;0.096;0.145	B;B;B;B;B	0.35550	0.205;0.024;0.038;0.038;0.086	T	0.76924	-0.2779	10	0.72032	D	0.01	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	1151;1094;1482;1482;1482	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	D	1482;1482;1482;1482;1482;378;378;1094	ENSP00000346291:E1482D;ENSP00000435932:E1482D;ENSP00000434228:E1482D;ENSP00000437073:E1482D	ENSP00000346291:E1482D	E	-	3	2	MYO18A	24446143	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.393000	0.52544	2.755000	0.94549	0.655000	0.94253	GAG		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
CRYBA1	1411	broad.mit.edu	37	17	27579133	27579133	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27579133G>A	ENST00000225387.3	+	4	268	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	89	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.E89E(1)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTATCCTGGAGAGAGGAGAAT	0.502											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E89E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G267A	17						.						166.0	144.0	152.0					17																	27579133		2203	4300	6503	24603259	SO:0001819	synonymous_variant	1411	exon4				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.267G>A	17.37:g.27579133G>A		795	24603259	NM_005208	Q13633|Q14CM9	Silent	SNP	ENST00000225387.3	37	CCDS11249.1																																																																																				0.502	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208	
NUFIP2	57532	broad.mit.edu	37	17	27613024	27613024	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27613024A>G	ENST00000225388.4	-	2	2046	c.1988T>C	c.(1987-1989)gTa>gCa	p.V663A	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	663						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V663A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGTGTGATATACAATAGCAGC	0.358																																					p.V663A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1988C	17						.						66.0	66.0	66.0					17																	27613024		2203	4300	6503	24637150	SO:0001583	missense	57532	exon2			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1988T>C	17.37:g.27613024A>G	ENSP00000225388:p.Val663Ala		24637150	NM_020772	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	A	6.935	0.542302	0.13250	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.93	5.93	0.95920	.	0.169377	0.40640	N	0.001056	T	0.37571	0.1008	N	0.11560	0.145	0.80722	D	1	B	0.17268	0.021	B	0.15484	0.013	T	0.25152	-1.0140	9	0.23891	T	0.37	-5.6967	12.5988	0.56485	0.876:0.0:0.0:0.124	.	663	Q7Z417	NUFP2_HUMAN	A	663	.	ENSP00000225388:V663A	V	-	2	0	NUFIP2	24637150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.737000	0.62066	2.273000	0.75805	0.482000	0.46254	GTA		0.358	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
NUFIP2	57532	broad.mit.edu	37	17	27614111	27614111	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27614111G>A	ENST00000225388.4	-	2	959	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	301						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R301W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GAGCTTTTCCGAAGCATATCA	0.478																																					p.R301W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C901T	17						.						100.0	105.0	103.0					17																	27614111		2203	4300	6503	24638237	SO:0001583	missense	57532	exon2			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.901C>T	17.37:g.27614111G>A	ENSP00000225388:p.Arg301Trp		24638237	NM_020772	A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529011	0.44969	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	3.11	0.35812	.	0.000000	0.64402	D	0.000001	T	0.45617	0.1351	L	0.36672	1.1	0.80722	D	1	B	0.27910	0.193	B	0.23574	0.047	T	0.41016	-0.9532	9	0.87932	D	0	0.1132	10.7938	0.46449	0.0622:0.0:0.5181:0.4197	.	301	Q7Z417	NUFP2_HUMAN	W	301	.	ENSP00000225388:R301W	R	-	1	2	NUFIP2	24638237	0.569000	0.26643	0.993000	0.49108	0.843000	0.47879	0.456000	0.21859	0.473000	0.27368	0.655000	0.94253	CGG		0.478	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
GIT1	28964	broad.mit.edu	37	17	27906004	27906004	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:27906004G>T	ENST00000225394.3	-	8	1010				RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Missense_Mutation_p.S255Y|GIT1_ENST00000394869.3_Missense_Mutation_p.S255Y|GIT1_ENST00000579937.1_Intron	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S255Y(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTTTTGCCGAGATCTAAGTCC	0.607																																					p.S255Y	Colon(81;41 1719 20078 35068)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C764A	17						.						93.0	106.0	102.0					17																	27906004		2185	4281	6466	24930130	SO:0001627	intron_variant	28964	exon8			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.762-207C>A	17.37:g.27906004G>T			24930130	NM_001085454	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937425	0.52972	.	.	ENSG00000108262	ENST00000394869	T	0.70749	-0.51	5.36	5.36	0.76844	.	0.643282	0.12950	U	0.425846	T	0.53077	0.1774	N	0.08118	0	0.80722	D	1	B;B	0.20887	0.007;0.049	B;B	0.19946	0.001;0.027	T	0.51172	-0.8739	10	0.56958	D	0.05	.	12.4609	0.55731	0.082:0.0:0.918:0.0	.	259;255	Q59FC3;B4DGU9	.;.	Y	255	ENSP00000378338:S255Y	ENSP00000378338:S255Y	S	-	2	0	GIT1	24930130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.716000	0.61916	2.692000	0.91855	0.561000	0.74099	TCT		0.607	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	
EFCAB5	374786	broad.mit.edu	37	17	28361332	28361332	+	Missense_Mutation	SNP	C	C	T	rs370396201		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28361332C>T	ENST00000394835.3	+	8	1321	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	EFCAB5_ENST00000394832.2_Missense_Mutation_p.R377W|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R34W|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R377W|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R321W|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R377W	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	377							calcium ion binding (GO:0005509)	p.R377W(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGATGAATTTCGGGAGGTCAT	0.413																																					p.R321W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961T	17						.	C	TRP/ARG,TRP/ARG	1,3863		0,1,1931	71.0	70.0	70.0		961,1129	-1.5	0.9	17		70	0,8260		0,0,4130	no	missense,missense	EFCAB5	NM_001145053.1,NM_198529.3	101,101	0,1,6061	TT,TC,CC		0.0,0.0259,0.0082	probably-damaging,probably-damaging	321/857,377/1504	28361332	1,12123	1932	4130	6062	25385458	SO:0001583	missense	374786	exon8			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1129C>T	17.37:g.28361332C>T	ENSP00000378312:p.Arg377Trp		25385458	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621440	0.66787	2.59E-4	0.0	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.2	-1.5	0.08691	.	0.444772	0.18541	N	0.138181	T	0.57975	0.2090	M	0.70275	2.135	0.24481	N	0.99435	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.917;1.0	D;D;D;D;B;D	0.91635	0.999;0.999;0.966;0.966;0.291;0.966	T	0.48007	-0.9072	10	0.66056	D	0.02	-5.7019	4.2597	0.10735	0.3953:0.4101:0.1084:0.0862	.	321;321;377;377;377;377	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	W	321;120;34;377;377;377;377;321;183	ENSP00000440619:R321W;ENSP00000445575:R34W;ENSP00000378312:R377W;ENSP00000322003:R377W;ENSP00000378309:R377W;ENSP00000368012:R377W;ENSP00000417009:R183W	ENSP00000322003:R377W	R	+	1	2	EFCAB5	25385458	1.000000	0.71417	0.878000	0.34440	0.881000	0.50899	0.779000	0.26746	-0.110000	0.12022	0.561000	0.74099	CGG		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
EFCAB5	374786	broad.mit.edu	37	17	28378183	28378183	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28378183C>A	ENST00000394835.3	+	9	1440	c.1248C>A	c.(1246-1248)ttC>ttA	p.F416L	EFCAB5_ENST00000394832.2_Missense_Mutation_p.F416L|EFCAB5_ENST00000541045.1_Missense_Mutation_p.F73L|EFCAB5_ENST00000378738.3_Missense_Mutation_p.F416L|EFCAB5_ENST00000536908.2_Missense_Mutation_p.F360L|EFCAB5_ENST00000320856.5_Missense_Mutation_p.F416L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	416							calcium ion binding (GO:0005509)	p.F416L(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAATTGTTCTATGACCATA	0.433																																					p.F360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1080A	17						.						118.0	105.0	109.0					17																	28378183		1912	4123	6035	25402309	SO:0001583	missense	374786	exon9			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1248C>A	17.37:g.28378183C>A	ENSP00000378312:p.Phe416Leu		25402309	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883060	0.72410	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.48	3.5	0.40072	.	0.113538	0.39083	N	0.001465	T	0.65312	0.2679	M	0.75264	2.295	0.37476	D	0.915817	D;D;D;D;D;D	0.89917	0.997;0.998;1.0;0.998;0.997;0.998	D;D;D;D;D;D	0.85130	0.985;0.994;0.997;0.994;0.957;0.994	T	0.69577	-0.5108	10	0.59425	D	0.04	-16.0395	10.2458	0.43341	0.0:0.8496:0.0:0.1504	.	360;360;416;416;416;416	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	L	360;159;73;416;416;416;416;360;222	ENSP00000440619:F360L;ENSP00000445575:F73L;ENSP00000378312:F416L;ENSP00000322003:F416L;ENSP00000378309:F416L;ENSP00000368012:F416L;ENSP00000417009:F222L	ENSP00000322003:F416L	F	+	3	2	EFCAB5	25402309	1.000000	0.71417	0.985000	0.45067	0.697000	0.40408	1.233000	0.32648	0.677000	0.31305	0.655000	0.94253	TTC		0.433	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
NSRP1	84081	broad.mit.edu	37	17	28511765	28511765	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28511765C>T	ENST00000247026.5	+	7	813	c.750C>T	c.(748-750)ttC>ttT	p.F250F	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	250					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.F250F(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						ACAGTGACTTCGATGCTAAGA	0.413																																					p.F250F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750T	17						.						75.0	70.0	72.0					17																	28511765		2203	4300	6503	25535891	SO:0001819	synonymous_variant	84081	exon7			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.750C>T	17.37:g.28511765C>T			25535891	NM_032141	Q6FI71	Silent	SNP	ENST00000247026.5	37	CCDS11255.1																																																																																				0.413	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141	
BLMH	642	broad.mit.edu	37	17	28599588	28599588	+	Missense_Mutation	SNP	T	T	C	rs184963100		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28599588T>C	ENST00000261714.6	-	9	1193	c.1019A>G	c.(1018-1020)gAc>gGc	p.D340G	BLMH_ENST00000394819.3_Missense_Mutation_p.D253G|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	340					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.D340G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	CAGATTCATGTCACTGAGGCC	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		19503	0.001		0.0	False		,,,				2504	0.0				p.D340G	Pancreas(127;628 1772 12912 33293 36203)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1019G	17						.						227.0	227.0	227.0					17																	28599588		2203	4300	6503	25623714	SO:0001583	missense	642	exon9			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1019A>G	17.37:g.28599588T>C	ENSP00000261714:p.Asp340Gly		25623714	NM_000386	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	ENST00000261714.6	37	CCDS32604.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	24.9	4.581462	0.86748	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.54279	0.58;0.58	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.993;0.996	D	0.83966	0.0324	10	0.62326	D	0.03	-23.1189	15.5295	0.75942	0.0:0.0:0.0:1.0	.	253;340	E7EMN3;Q13867	.;BLMH_HUMAN	G	340;253	ENSP00000261714:D340G;ENSP00000378296:D253G	ENSP00000261714:D340G	D	-	2	0	BLMH	25623714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.254000	0.74563	0.533000	0.62120	GAC		0.433	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
TMIGD1	388364	broad.mit.edu	37	17	28652112	28652112	+	Splice_Site	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28652112A>G	ENST00000328886.4	-	4	434	c.362T>C	c.(361-363)tTt>tCt	p.F121S	TMIGD1_ENST00000538566.2_Splice_Site_p.F121S	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	121						integral component of membrane (GO:0016021)		p.F121S(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GAGAGGAGGAACTGCAAGACT	0.408																																					p.F121S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T362C	17						.						90.0	84.0	86.0					17																	28652112		2203	4300	6503	25676238	SO:0001630	splice_region_variant	388364	exon4			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.362-1T>C	17.37:g.28652112A>G			25676238	NM_206832	A8K2K1|Q6ZMC6	Missense_Mutation	SNP	ENST00000328886.4	37	CCDS32605.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589407	0.66105	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.13657	2.57;2.57	5.79	1.85	0.25348	Immunoglobulin-like fold (1);	0.290241	0.39985	N	0.001208	T	0.32255	0.0823	M	0.69823	2.125	0.44042	D	0.996773	D;D	0.76494	0.996;0.999	P;D	0.69824	0.885;0.966	T	0.05131	-1.0904	10	0.87932	D	0	.	11.4223	0.49989	0.6454:0.0:0.0:0.3546	.	121;121	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	S	121	ENSP00000332404:F121S;ENSP00000446118:F121S	ENSP00000332404:F121S	F	-	2	0	TMIGD1	25676238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.258000	0.51507	0.421000	0.25980	0.533000	0.62120	TTT		0.408	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447955.1	NM_206832	Missense_Mutation
CPD	1362	broad.mit.edu	37	17	28750684	28750684	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28750684G>T	ENST00000225719.4	+	6	1894	c.1818G>T	c.(1816-1818)atG>atT	p.M606I	CPD_ENST00000543464.2_Missense_Mutation_p.M359I	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	606	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.M606I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGCCATCCATGAATCCTGATG	0.353																																					p.M359I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1077T	17						.						108.0	103.0	105.0					17																	28750684		2203	4300	6503	25774810	SO:0001583	missense	1362	exon6			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1818G>T	17.37:g.28750684G>T	ENSP00000225719:p.Met606Ile		25774810	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031687	0.93575	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.10763	2.84;2.84	5.75	5.75	0.90469	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.58810	1.83	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.72338	0.961;0.977	T	0.00366	-1.1786	10	0.66056	D	0.02	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	359;606	F5GZH6;O75976	.;CBPD_HUMAN	I	606;359	ENSP00000225719:M606I;ENSP00000444443:M359I	ENSP00000225719:M606I	M	+	3	0	CPD	25774810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.555000	0.82223	2.716000	0.92895	0.655000	0.94253	ATG		0.353	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
GOSR1	9527	broad.mit.edu	37	17	28817228	28817228	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:28817228G>T	ENST00000225724.5	+	5	505	c.433G>T	c.(433-435)Gat>Tat	p.D145Y	GOSR1_ENST00000451249.2_Missense_Mutation_p.D143Y|GOSR1_ENST00000467337.2_Missense_Mutation_p.D80Y|GOSR1_ENST00000581721.1_Missense_Mutation_p.D145Y	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	145					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D145Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						AGTACGAAAAGATATTGAGTA	0.318																																					p.D80Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238T	17						.						70.0	66.0	67.0					17																	28817228		2203	4299	6502	25841354	SO:0001583	missense	9527	exon5			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.433G>T	17.37:g.28817228G>T	ENSP00000225724:p.Asp145Tyr		25841354	NM_001007024	J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737246	0.89482	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83917	0.5358	M	0.88979	2.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	D	0.86771	0.1973	9	0.87932	D	0	-17.4657	18.2606	0.90034	0.0:0.0:1.0:0.0	.	145;143	O95249;E9PCW1	GOSR1_HUMAN;.	Y	145;143;80;143	.	ENSP00000225724:D145Y	D	+	1	0	GOSR1	25841354	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.247000	0.95444	2.658000	0.90341	0.563000	0.77884	GAT		0.318	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2		
CRLF3	51379	broad.mit.edu	37	17	29111438	29111438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29111438C>A	ENST00000324238.6	-	8	1220	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CRLF3_ENST00000544695.1_Nonsense_Mutation_p.E250*|CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	366					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.E366*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TTTGTCATTTCTTTTCCATTG	0.383																																					p.E366X	Pancreas(30;346 881 29244 33464 41299)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	17						.						71.0	70.0	70.0					17																	29111438		2203	4300	6503	26135564	SO:0001587	stop_gained	51379	exon8			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1096G>T	17.37:g.29111438C>A	ENSP00000318804:p.Glu366*		26135564	NM_015986	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Nonsense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	38	6.750499	0.97809	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-27.6146	18.7014	0.91621	0.0:1.0:0.0:0.0	.	.	.	.	X	366;250	.	ENSP00000318804:E366X	E	-	1	0	CRLF3	26135564	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.393000	0.79851	2.492000	0.84095	0.460000	0.39030	GAA		0.383	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1		
CRLF3	51379	broad.mit.edu	37	17	29120666	29120666	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29120666C>A	ENST00000324238.6	-	5	752	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	CRLF3_ENST00000544695.1_Missense_Mutation_p.D94Y|CRLF3_ENST00000577725.1_Intron|CTD-2349P21.9_ENST00000580085.1_lincRNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	210	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.D210Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				AGCCTGTAATCTTGGGCTGTA	0.363																																					p.D210Y	Pancreas(30;346 881 29244 33464 41299)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628T	17						.						72.0	68.0	69.0					17																	29120666		2203	4300	6503	26144792	SO:0001583	missense	51379	exon5			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.628G>T	17.37:g.29120666C>A	ENSP00000318804:p.Asp210Tyr		26144792	NM_015986	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293926	0.81025	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.26518	1.73;1.73	5.64	5.64	0.86602	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.089034	0.85682	D	0.000000	T	0.35653	0.0939	L	0.55481	1.735	0.80722	D	1	D	0.53462	0.96	P	0.49276	0.605	T	0.07121	-1.0789	10	0.66056	D	0.02	-23.895	15.9871	0.80168	0.0:0.8652:0.1348:0.0	.	210	Q8IUI8	CRLF3_HUMAN	Y	210;94	ENSP00000318804:D210Y;ENSP00000444188:D94Y	ENSP00000318804:D210Y	D	-	1	0	CRLF3	26144792	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.665000	0.68052	2.663000	0.90544	0.591000	0.81541	GAT		0.363	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1		
ATAD5	79915	broad.mit.edu	37	17	29161662	29161662	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29161662C>A	ENST00000321990.4	+	2	941	c.563C>A	c.(562-564)tCt>tAt	p.S188Y	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	188					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.S188Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGCAAAATTCTAAAAAAGTA	0.338																																					p.S188Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C563A	17						.						64.0	72.0	69.0					17																	29161662		2202	4296	6498	26185788	SO:0001583	missense	79915	exon2				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.563C>A	17.37:g.29161662C>A	ENSP00000313171:p.Ser188Tyr		26185788	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	3.215	-0.160696	0.06502	.	.	ENSG00000176208	ENST00000321990	T	0.17854	2.25	5.69	-0.511	0.11970	.	1.732580	0.02736	N	0.115697	T	0.29158	0.0725	L	0.56769	1.78	0.09310	N	1	D;P	0.54964	0.969;0.947	P;P	0.54100	0.742;0.453	T	0.20940	-1.0260	10	0.59425	D	0.04	.	6.056	0.19812	0.2962:0.4685:0.1728:0.0624	.	188;188	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	Y	188	ENSP00000313171:S188Y	ENSP00000313171:S188Y	S	+	2	0	ATAD5	26185788	0.000000	0.05858	0.004000	0.12327	0.660000	0.38997	-0.369000	0.07533	0.080000	0.16959	0.655000	0.94253	TCT		0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29161837	29161837	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29161837A>G	ENST00000321990.4	+	2	1116	c.738A>G	c.(736-738)gcA>gcG	p.A246A	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	246					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.A246A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAAGCCATGCAAACTCTAGAG	0.338																																					p.A246A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A738G	17						.						80.0	84.0	83.0					17																	29161837		2202	4300	6502	26185963	SO:0001819	synonymous_variant	79915	exon2				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.738A>G	17.37:g.29161837A>G			26185963	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																				0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29195361	29195361	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29195361G>T	ENST00000321990.4	+	12	3622	c.3244G>T	c.(3244-3246)Gac>Tac	p.D1082Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1082					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.D1082Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTGGTTGAAAGACTGGAAAAG	0.328																																					p.D1082Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3244T	17						.						85.0	89.0	87.0					17																	29195361		2203	4300	6503	26219487	SO:0001583	missense	79915	exon12				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3244G>T	17.37:g.29195361G>T	ENSP00000313171:p.Asp1082Tyr		26219487	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384383	0.42308	.	.	ENSG00000176208	ENST00000321990	T	0.05925	3.37	5.42	5.42	0.78866	.	0.054544	0.64402	D	0.000001	T	0.30479	0.0766	M	0.88450	2.955	0.49299	D	0.999772	D;D	0.64830	0.994;0.994	P;P	0.62089	0.879;0.898	T	0.16335	-1.0406	10	0.87932	D	0	.	18.8334	0.92150	0.0:0.0:1.0:0.0	.	1082;1082	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	Y	1082	ENSP00000313171:D1082Y	ENSP00000313171:D1082Y	D	+	1	0	ATAD5	26219487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.724000	0.61972	2.525000	0.85131	0.655000	0.94253	GAC		0.328	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29196559	29196559	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29196559C>A	ENST00000321990.4	+	14	3880	c.3502C>A	c.(3502-3504)Cta>Ata	p.L1168I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1168					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L1168I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGACAAATTCTATCTCAGTT	0.363																																					p.L1168I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3502A	17						.						115.0	114.0	114.0					17																	29196559		2203	4300	6503	26220685	SO:0001583	missense	79915	exon14				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3502C>A	17.37:g.29196559C>A	ENSP00000313171:p.Leu1168Ile		26220685	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638904	0.29157	.	.	ENSG00000176208	ENST00000321990	T	0.10288	2.89	5.62	2.49	0.30216	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.169997	0.40144	N	0.001170	T	0.22589	0.0545	L	0.55743	1.74	0.41169	D	0.986154	P;D	0.59357	0.936;0.985	P;D	0.69654	0.802;0.965	T	0.00420	-1.1750	10	0.52906	T	0.07	.	8.0761	0.30718	0.0:0.6727:0.0:0.3273	.	1168;1168	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	1168	ENSP00000313171:L1168I	ENSP00000313171:L1168I	L	+	1	2	ATAD5	26220685	0.998000	0.40836	0.997000	0.53966	0.615000	0.37417	1.470000	0.35354	0.272000	0.22027	0.655000	0.94253	CTA		0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29220384	29220384	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29220384G>T	ENST00000321990.4	+	21	4891	c.4513G>T	c.(4513-4515)Gat>Tat	p.D1505Y		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1505					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.D1505Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCGGAATGTAGATTTTTTATA	0.338																																					p.D1505Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4513T	17						.						79.0	95.0	90.0					17																	29220384		2194	4295	6489	26244510	SO:0001583	missense	79915	exon21				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4513G>T	17.37:g.29220384G>T	ENSP00000313171:p.Asp1505Tyr		26244510	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892532	0.52121	.	.	ENSG00000176208	ENST00000321990	T	0.11385	2.78	5.68	5.68	0.88126	.	0.197265	0.53938	D	0.000060	T	0.27866	0.0686	L	0.52364	1.645	0.48185	D	0.999605	D	0.89917	1.0	D	0.85130	0.997	T	0.00064	-1.2151	10	0.56958	D	0.05	.	14.9239	0.70862	0.0:0.0:0.8569:0.1431	.	1505	Q96QE3	ATAD5_HUMAN	Y	1505	ENSP00000313171:D1505Y	ENSP00000313171:D1505Y	D	+	1	0	ATAD5	26244510	1.000000	0.71417	0.962000	0.40283	0.339000	0.28857	3.825000	0.55730	2.837000	0.97791	0.591000	0.81541	GAT		0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ATAD5	79915	broad.mit.edu	37	17	29221100	29221100	+	Silent	SNP	C	C	T	rs548420328		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29221100C>T	ENST00000321990.4	+	21	5607	c.5229C>T	c.(5227-5229)aaC>aaT	p.N1743N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1743					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.N1743N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCCAACCAACGATCTTACTT	0.333																																					p.N1743N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5229T	17						.						44.0	45.0	45.0					17																	29221100		2202	4299	6501	26245226	SO:0001819	synonymous_variant	79915	exon21				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5229C>T	17.37:g.29221100C>T			26245226	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																				0.333	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
NF1	4763	broad.mit.edu	37	17	29533315	29533316	+	Nonsense_Mutation	DNP	CG	CG	TA			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29533315_29533316CG>TA	ENST00000358273.4	+	12	1701_1702	c.1318_1319CG>TA	c.(1318-1320)CGa>TAa	p.R440*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R440*|NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	440					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.R440*(3)|p.R440>?(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTTT	0.396			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											.		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	19	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(3)|Complex(2)	soft_tissue(9)|central_nervous_system(4)|autonomic_ganglia(3)|large_intestine(2)|lung(1)	c.1318_1319TA	17	GRCh37	CM950845	NF1	M		.																																			26557442	SO:0001587	stop_gained	4763	exon12	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	Exception_encountered	17.37:g.29533315_29533316delinsTA	ENSP00000351015:p.Arg440*		26557441	NM_001128147	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	DNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.396	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29588740	29588740	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29588740C>A	ENST00000358273.4	+	35	4972	c.4589C>A	c.(4588-4590)gCt>gAt	p.A1530D	NF1_ENST00000356175.3_Missense_Mutation_p.A1509D	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1530					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.A1530D(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATCATAAAGCTGTTGGAAGA	0.408			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.A1509D		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	13	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	c.C4526A	17						.						120.0	105.0	110.0					17																	29588740		2203	4300	6503	26612866	SO:0001583	missense	4763	exon34	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4589C>A	17.37:g.29588740C>A	ENSP00000351015:p.Ala1530Asp		26612866	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717355	0.89205	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.81499	-1.5;-1.5;-1.5	5.44	5.44	0.79542	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.86502	0.5948	L	0.52364	1.645	0.80722	D	1	B;D;B	0.76494	0.094;0.999;0.028	B;D;B	0.80764	0.048;0.994;0.024	T	0.82859	-0.0249	10	0.21540	T	0.41	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	559;1509;1530	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	D	1530;1509;1175	ENSP00000351015:A1530D;ENSP00000348498:A1509D;ENSP00000389907:A1175D	ENSP00000348498:A1509D	A	+	2	0	NF1	26612866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.266000	0.78452	2.565000	0.86533	0.650000	0.86243	GCT		0.408	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29592343	29592343	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:29592343T>G	ENST00000358273.4	+	36	5204	c.4821T>G	c.(4819-4821)taT>taG	p.Y1607*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y1586*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1607	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Y1607*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTATTTTTTATTATGTTGCAC	0.343			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.Y1586X		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|large_intestine(1)	c.T4758G	17						.						56.0	57.0	56.0					17																	29592343		2201	4298	6499	26616469	SO:0001587	stop_gained	4763	exon35	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4821T>G	17.37:g.29592343T>G	ENSP00000351015:p.Tyr1607*		26616469	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	42	9.378353	0.99153	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.16	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5954	0.28046	0.0:0.4206:0.0:0.5794	.	.	.	.	X	1607;1586;1252	.	ENSP00000348498:Y1586X	Y	+	3	2	NF1	26616469	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.315000	0.43752	0.463000	0.27118	0.528000	0.53228	TAT		0.343	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
UTP6	55813	broad.mit.edu	37	17	30192430	30192430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30192430C>A	ENST00000261708.4	-	18	1728	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	531					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.E531*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCATAATATTCTCTTATGTTC	0.353																																					p.E531X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1591T	17						.						113.0	110.0	111.0					17																	30192430		2203	4300	6503	27216543	SO:0001587	stop_gained	55813	exon18			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.1591G>T	17.37:g.30192430C>A	ENSP00000261708:p.Glu531*		27216543	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Nonsense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	c	39	7.744167	0.98465	.	.	ENSG00000108651	ENST00000261708	.	.	.	5.17	5.17	0.71159	.	0.157212	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-3.5748	18.2619	0.90038	0.0:1.0:0.0:0.0	.	.	.	.	X	531	.	ENSP00000261708:E531X	E	-	1	0	UTP6	27216543	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	6.296000	0.72751	2.401000	0.81631	0.558000	0.71614	GAA		0.353	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	
UTP6	55813	broad.mit.edu	37	17	30213078	30213078	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30213078C>T	ENST00000261708.4	-	9	761	c.624G>A	c.(622-624)gaG>gaA	p.E208E	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	208					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.E208E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AATCAGGATTCTCCTAAAGAG	0.358																																					p.E208E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	17						.						87.0	90.0	89.0					17																	30213078		2203	4300	6503	27237191	SO:0001819	synonymous_variant	55813	exon9			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.624G>A	17.37:g.30213078C>T			27237191	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	CCDS11269.1																																																																																				0.358	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	
UTP6	55813	broad.mit.edu	37	17	30221999	30221999	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30221999C>A	ENST00000261708.4	-	3	346	c.209G>T	c.(208-210)aGa>aTa	p.R70I	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	70					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.R70I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TGTTCTTCTTCTCTGGATCAG	0.313																																					p.R70I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209T	17						.						76.0	62.0	67.0					17																	30221999		2200	4296	6496	27246112	SO:0001583	missense	55813	exon3			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.209G>T	17.37:g.30221999C>A	ENSP00000261708:p.Arg70Ile		27246112	NM_018428	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654594	0.29425	.	.	ENSG00000108651	ENST00000261708	T	0.30182	1.54	5.31	0.512	0.16994	U3 small nucleolar RNA-associated protein 6 (1);	0.249022	0.46145	D	0.000312	T	0.11665	0.0284	N	0.04297	-0.235	0.44539	D	0.997497	B;B	0.26902	0.046;0.163	B;B	0.23716	0.029;0.048	T	0.09250	-1.0683	10	0.37606	T	0.19	-4.9754	6.4188	0.21732	0.0:0.4565:0.0:0.5435	.	70;70	B4DSL9;Q9NYH9	.;UTP6_HUMAN	I	70	ENSP00000261708:R70I	ENSP00000261708:R70I	R	-	2	0	UTP6	27246112	1.000000	0.71417	0.994000	0.49952	0.560000	0.35617	3.528000	0.53524	0.323000	0.23307	-0.793000	0.03317	AGA		0.313	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428	
LRRC37B	114659	broad.mit.edu	37	17	30374820	30374820	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30374820G>T	ENST00000341671.7	+	9	2288	c.2283G>T	c.(2281-2283)atG>atT	p.M761I	LRRC37B_ENST00000394713.3_Missense_Mutation_p.M710I|LRRC37B_ENST00000327564.7_Missense_Mutation_p.M788I|LRRC37B_ENST00000584368.1_Missense_Mutation_p.M722I|LRRC37B_ENST00000543378.2_Missense_Mutation_p.M679I	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	761						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.M761I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GAGCGTTCATGAAGATGTTAC	0.473																																					p.M761I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2283T	17						.						118.0	122.0	121.0					17																	30374820		2203	4300	6503	27398933	SO:0001583	missense	114659	exon9			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2283G>T	17.37:g.30374820G>T	ENSP00000340519:p.Met761Ile		27398933	NM_052888	Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	4.260	0.047223	0.08243	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.68025	-0.2;-0.3;0.9;-0.29	1.9	0.895	0.19247	.	.	.	.	.	T	0.58424	0.2121	M	0.62723	1.935	0.09310	N	1	B;B	0.31599	0.33;0.228	B;B	0.31547	0.132;0.026	T	0.54583	-0.8272	9	0.66056	D	0.02	.	4.2992	0.10916	0.2126:0.0:0.7874:0.0	.	710;761	Q17RC9;Q96QE4	.;LR37B_HUMAN	I	679;788;710;761	ENSP00000443345:M679I;ENSP00000332536:M788I;ENSP00000378202:M710I;ENSP00000340519:M761I	ENSP00000332536:M788I	M	+	3	0	LRRC37B	27398933	1.000000	0.71417	0.231000	0.23993	0.037000	0.13140	1.008000	0.29872	0.358000	0.24211	0.440000	0.28878	ATG		0.473	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888	
RHBDL3	162494	broad.mit.edu	37	17	30625188	30625188	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30625188G>A	ENST00000269051.4	+	6	760	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	RHBDL3_ENST00000536287.1_Missense_Mutation_p.R151Q|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R241Q	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	249						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.R249Q(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGAGCCACCCGAATTGGGCTT	0.622																																					p.R249Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	17						.						150.0	125.0	134.0					17																	30625188		2203	4300	6503	27649301	SO:0001583	missense	162494	exon6			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.746G>A	17.37:g.30625188G>A	ENSP00000269051:p.Arg249Gln		27649301	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	36	5.665718	0.96745	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.72	5.72	0.89469	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	T	0.56768	-0.7924	10	0.87932	D	0	-6.4293	19.8863	0.96913	0.0:0.0:1.0:0.0	.	249;241;249	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	Q	249;249;241;151	ENSP00000394849:R249Q;ENSP00000269051:R249Q;ENSP00000442092:R241Q;ENSP00000466508:R151Q	ENSP00000269051:R249Q	R	+	2	0	RHBDL3	27649301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.102000	0.94226	2.706000	0.92434	0.561000	0.74099	CGA		0.622	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
RHBDL3	162494	broad.mit.edu	37	17	30643287	30643287	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:30643287C>T	ENST00000269051.4	+	8	933	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RHBDL3_ENST00000536287.1_Missense_Mutation_p.R209W|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R299W	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	307						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.R307W(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CAAGCTGCTGCGGATGGCTGT	0.547																																					p.R307W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919T	17						.						158.0	159.0	158.0					17																	30643287		2203	4300	6503	27667400	SO:0001583	missense	162494	exon8			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.919C>T	17.37:g.30643287C>T	ENSP00000269051:p.Arg307Trp		27667400	NM_138328	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.381660|4.381660	0.82792|0.82792	.|.	.|.	ENSG00000141314|ENSG00000141314	ENST00000431505|ENST00000269051;ENST00000538145;ENST00000536287	T|T;T;T	0.67523|0.11385	-0.27|2.78;2.78;2.78	5.56|5.56	3.43|3.43	0.39272|0.39272	.|Peptidase S54, rhomboid domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36166|0.36166	0.0957|0.0957	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	P|D;D	0.37997|0.89917	0.614|1.0;1.0	B|D;D	0.25614|0.91635	0.062|0.999;0.999	T|T	0.45775|0.45775	-0.9238|-0.9238	9|10	0.87932|0.87932	D|D	0|0	.|.	15.6414|15.6414	0.77006|0.77006	0.288:0.712:0.0:0.0|0.288:0.712:0.0:0.0	.|.	273|299;307	E9PD28|Q495Y5;P58872	.|.;RHBL3_HUMAN	V|W	273|307;299;209	ENSP00000394849:A273V|ENSP00000269051:R307W;ENSP00000442092:R299W;ENSP00000466508:R209W	ENSP00000394849:A273V|ENSP00000269051:R307W	A|R	+|+	2|1	0|2	RHBDL3|RHBDL3	27667400|27667400	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	2.195000|2.195000	0.42677|0.42677	1.329000|1.329000	0.45376|0.45376	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.547	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
RAP1GAP2	23108	broad.mit.edu	37	17	2867315	2867315	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2867315G>A	ENST00000254695.8	+	7	535	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E130K|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E149K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E134K	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	149					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.E149K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTACAAGCTCGAGTGCAAGGG	0.647																																					p.E149K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G445A	17						.						59.0	63.0	62.0					17																	2867315		2090	4215	6305	2814065	SO:0001583	missense	23108	exon7			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.445G>A	17.37:g.2867315G>A	ENSP00000254695:p.Glu149Lys		2814065	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	g	33	5.244175	0.95272	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.82630	2.6	0.80722	D	1	D;D	0.61697	0.99;0.983	P;B	0.46452	0.517;0.339	D	0.95477	0.8557	10	0.87932	D	0	-2.2685	18.6341	0.91371	0.0:0.0:1.0:0.0	.	134;149	Q684P5-2;Q684P5	.;RPGP2_HUMAN	K	149;134;130;149	ENSP00000254695:E149K;ENSP00000389824:E134K;ENSP00000439688:E130K;ENSP00000444890:E149K	ENSP00000254695:E149K	E	+	1	0	RAP1GAP2	2814065	1.000000	0.71417	0.961000	0.40146	0.784000	0.44337	9.168000	0.94781	2.661000	0.90470	0.645000	0.84053	GAG		0.647	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2		
RAP1GAP2	23108	broad.mit.edu	37	17	2883593	2883593	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2883593G>T	ENST00000254695.8	+	9	699	c.609G>T	c.(607-609)aaG>aaT	p.K203N	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.K184N|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.K203N|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.K188N	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	203					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)	p.K203N(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAAACTGAAGACGGTACATG	0.542																																					p.K203N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G609T	17						.						90.0	87.0	88.0					17																	2883593		1997	4166	6163	2830343	SO:0001583	missense	23108	exon9			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.609G>T	17.37:g.2883593G>T	ENSP00000254695:p.Lys203Asn		2830343	NM_015085	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085975	0.36758	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	4.99	1.55	0.23275	.	0.095500	0.64402	D	0.000001	D	0.90981	0.7164	M	0.70595	2.14	0.40839	D	0.983652	P;P	0.51449	0.892;0.945	P;B	0.46629	0.522;0.439	D	0.86203	0.1620	10	0.27785	T	0.31	-19.955	5.1153	0.14831	0.4338:0.0:0.5662:0.0	.	188;203	Q684P5-2;Q684P5	.;RPGP2_HUMAN	N	203;188;184;203	ENSP00000254695:K203N;ENSP00000389824:K188N;ENSP00000439688:K184N;ENSP00000444890:K203N	ENSP00000254695:K203N	K	+	3	2	RAP1GAP2	2830343	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.633000	0.37113	0.527000	0.28560	0.555000	0.69702	AAG		0.542	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2		
MYO1D	4642	broad.mit.edu	37	17	31094749	31094749	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:31094749C>T	ENST00000318217.5	-	7	1040	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MYO1D_ENST00000579584.1_Missense_Mutation_p.E246K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E158K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E246K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	246	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E246K(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTCTGAATTCGGCAGCATCA	0.363																																					p.E246K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G736A	17						.						88.0	77.0	81.0					17																	31094749		2203	4300	6503	28118862	SO:0001583	missense	4642	exon7			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.736G>A	17.37:g.31094749C>T	ENSP00000324527:p.Glu246Lys		28118862	NM_015194	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571597	0.65765	.	.	ENSG00000176658	ENST00000318217	T	0.72835	-0.69	6.0	5.01	0.66863	Myosin head, motor domain (2);	0.187967	0.25099	U	0.033151	T	0.70064	0.3181	M	0.62723	1.935	0.50467	D	0.999873	B;B	0.22080	0.064;0.064	B;B	0.26202	0.067;0.067	T	0.68534	-0.5383	10	0.56958	D	0.05	.	14.8407	0.70220	0.0:0.8553:0.1447:0.0	.	157;246	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	246	ENSP00000324527:E246K	ENSP00000324527:E246K	E	-	1	0	MYO1D	28118862	1.000000	0.71417	0.942000	0.38095	0.967000	0.64934	7.487000	0.81328	1.505000	0.48720	0.655000	0.94253	GAA		0.363	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
OR1D2	4991	broad.mit.edu	37	17	2995871	2995871	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:2995871G>T	ENST00000331459.1	-	1	419	c.420C>A	c.(418-420)ctC>ctA	p.L140L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	140					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L140L(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTAAGATACAGAGCTTAGGGC	0.542																																					p.L140L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C420A	17						.						83.0	89.0	87.0					17																	2995871		2203	4300	6503	2942621	SO:0001819	synonymous_variant	4991	exon1			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.420C>A	17.37:g.2995871G>T			2942621	NM_002548	Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	ENST00000331459.1	37	CCDS11019.1																																																																																				0.542	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548	
SPACA3	124912	broad.mit.edu	37	17	31322667	31322667	+	Missense_Mutation	SNP	G	G	A	rs368023924		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:31322667G>A	ENST00000269053.3	+	2	345	c.275G>A	c.(274-276)cGt>cAt	p.R92H	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_Missense_Mutation_p.R23H|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	92					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)	p.R92H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTACGGTCGTTGTGAACTG	0.617																																					p.R92H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	17						.	G	HIS/ARG	0,4406		0,0,2203	106.0	70.0	82.0		275	3.7	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA3	NM_173847.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/216	31322667	1,13005	2203	4300	6503	28346780	SO:0001583	missense	124912	exon2			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"""cancer/testis antigen 54"", ""sperm lyzozyme-like acrosomal protein 1"""	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.275G>A	17.37:g.31322667G>A	ENSP00000269053:p.Arg92His		28346780	NM_173847	Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	g	15.44	2.832902	0.50951	0.0	1.16E-4	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.73681	-0.77	3.67	3.67	0.42095	Lysozyme-like domain (1);	0.158649	0.35708	N	0.003025	D	0.85835	0.5789	M	0.91249	3.19	0.80722	D	1	D	0.64830	0.994	P	0.59056	0.851	D	0.86669	0.1909	10	0.87932	D	0	-1.3152	11.1864	0.48660	0.0:0.0:1.0:0.0	.	92	Q8IXA5	SACA3_HUMAN	H	92;93	ENSP00000269053:R92H	ENSP00000269053:R92H	R	+	2	0	SPACA3	28346780	0.994000	0.37717	0.990000	0.47175	0.101000	0.19017	3.292000	0.51772	0.455000	0.26910	-0.411000	0.06167	CGT		0.617	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847	
C17orf102	400591	broad.mit.edu	37	17	32904630	32904630	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:32904630C>T	ENST00000357754.1	-	2	508	c.420G>A	c.(418-420)gtG>gtA	p.V140V		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	140								p.V140V(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGGAGATATGCACCATACTAC	0.493																																					p.V140V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G420A	17						.						117.0	112.0	113.0					17																	32904630		2026	4197	6223	29928743	SO:0001819	synonymous_variant	400591	exon2				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.420G>A	17.37:g.32904630C>T			29928743	NM_207454	A5PKX0|Q6ZTB3	Silent	SNP	ENST00000357754.1	37	CCDS42297.1																																																																																				0.493	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454	
TMEM132E	124842	broad.mit.edu	37	17	32956184	32956184	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:32956184C>A	ENST00000321639.5	+	5	1357	c.1029C>A	c.(1027-1029)gtC>gtA	p.V343V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	343						integral component of membrane (GO:0016021)		p.V343V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGCTGACGGTCATTCAGCGGG	0.607																																					p.V343V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029A	17						.						64.0	52.0	56.0					17																	32956184		2203	4300	6503	29980297	SO:0001819	synonymous_variant	124842	exon5			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1029C>A	17.37:g.32956184C>A			29980297	NM_207313	Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	CCDS11283.1																																																																																				0.607	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
CCT6B	10693	broad.mit.edu	37	17	33288348	33288348	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33288348A>C	ENST00000314144.5	-	1	180	c.65T>G	c.(64-66)gTc>gGc	p.V22G	ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000421975.3_Missense_Mutation_p.V22G|CCT6B_ENST00000436961.3_Missense_Mutation_p.V22G	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	22				AALAVNICAARGL -> QLWLSIYAPPRV (in Ref. 1; BAA11347). {ECO:0000305}.	chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.V22G(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GCATATATTGACAGCCAAAGC	0.567																																					p.V22G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T65G	17						.						35.0	38.0	37.0					17																	33288348		2203	4299	6502	30312461	SO:0001583	missense	10693	exon1			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.65T>G	17.37:g.33288348A>C	ENSP00000327191:p.Val22Gly		30312461	NM_001193529	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641408	0.67244	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.11821	2.74;2.74;2.74	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.39020	1.185	0.80722	D	1	P;P;D	0.57899	0.913;0.956;0.981	P;P;P	0.52881	0.477;0.655;0.712	T	0.00601	-1.1650	10	0.41790	T	0.15	-7.7987	13.3897	0.60816	1.0:0.0:0.0:0.0	.	22;22;22	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	G	22	ENSP00000398044:V22G;ENSP00000327191:V22G;ENSP00000400917:V22G	ENSP00000327191:V22G	V	-	2	0	CCT6B	30312461	1.000000	0.71417	0.917000	0.36280	0.073000	0.16967	8.004000	0.88535	2.324000	0.78689	0.533000	0.62120	GTC		0.567	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	
LIG3	3980	broad.mit.edu	37	17	33310406	33310406	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33310406T>A	ENST00000378526.4	+	2	515	c.382T>A	c.(382-384)Tca>Aca	p.S128T	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.S128T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	128					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.S41T(1)|p.S128T(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAATCCCTTCTCAGAGTCTGG	0.498								Other BER factors																													p.S128T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T382A	17						.						68.0	64.0	65.0					17																	33310406		2203	4300	6503	30334519	SO:0001583	missense	3980	exon2				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.382T>A	17.37:g.33310406T>A	ENSP00000367787:p.Ser128Thr		30334519	NM_013975	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721952	0.48728	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.29655	1.56;1.56	5.93	5.93	0.95920	Zinc finger, PARP-type (4);	0.175245	0.45361	D	0.000377	T	0.31575	0.0801	L	0.39397	1.21	0.38879	D	0.956875	B;B;B;P	0.35628	0.007;0.007;0.001;0.513	B;B;B;B	0.43052	0.025;0.025;0.023;0.406	T	0.22730	-1.0208	10	0.51188	T	0.08	-6.8261	9.5503	0.39306	0.2456:0.0:0.0:0.7544	.	128;128;128;128	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	T	128	ENSP00000367787:S128T;ENSP00000262327:S128T	ENSP00000262327:S128T	S	+	1	0	LIG3	30334519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.594000	0.61041	2.281000	0.76405	0.533000	0.62120	TCA		0.498	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
LIG3	3980	broad.mit.edu	37	17	33310495	33310495	+	Silent	SNP	C	C	T	rs61749869		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33310495C>T	ENST00000378526.4	+	2	604	c.471C>T	c.(469-471)atC>atT	p.I157I	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Silent_p.I157I	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	157					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.I70I(1)|p.I157I(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAAAAAAAATCGAGGACCTCA	0.483								Other BER factors																													p.I157I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C471T	17						.						34.0	38.0	36.0					17																	33310495		2198	4299	6497	30334608	SO:0001819	synonymous_variant	3980	exon2				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.471C>T	17.37:g.33310495C>T			30334608	NM_013975	Q16714|Q6NVK3	Silent	SNP	ENST00000378526.4	37	CCDS11284.2																																																																																				0.483	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
RAD51D	5892	broad.mit.edu	37	17	33428365	33428365	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33428365C>T	ENST00000345365.6	-	9	1013	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	RAD51D_ENST00000360276.3_Missense_Mutation_p.R208Q|RAD51D_ENST00000460118.2_Missense_Mutation_p.R134Q|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.R94Q|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.R141Q|RAD51D_ENST00000394589.4_Missense_Mutation_p.R253Q|RAD51D_ENST00000590016.1_Missense_Mutation_p.R273Q	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	253					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.R141Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTCCCTGTCTCGAGTTATGTG	0.532								Direct reversal of damage																													p.R253Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G758A	17						.						96.0	87.0	90.0					17																	33428365		2203	4300	6503	30452478	SO:0001583	missense	5892	exon9			AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.758G>A	17.37:g.33428365C>T	ENSP00000338790:p.Arg253Gln		30452478	NM_002878	B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109373	0.37242	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.68765	1.12;-0.35	4.86	2.84	0.33178	ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.214060	0.47455	N	0.000235	T	0.80763	0.4685	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.978;0.971	D;D;P;P	0.70935	0.971;0.947;0.668;0.611	T	0.78732	-0.2089	10	0.62326	D	0.03	-0.9502	4.443	0.11584	0.1798:0.6378:0.0:0.1825	.	273;141;253;253	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	Q	253;273;253;208;141	ENSP00000338790:R253Q;ENSP00000353417:R208Q	ENSP00000338408:R253Q	R	-	2	0	RAD51D	30452478	1.000000	0.71417	0.956000	0.39512	0.856000	0.48823	2.397000	0.44477	0.746000	0.32786	0.655000	0.94253	CGA		0.532	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878	
SLFN11	91607	broad.mit.edu	37	17	33679510	33679510	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33679510G>T	ENST00000394566.1	-	7	2843	c.2571C>A	c.(2569-2571)ttC>ttA	p.F857L	SLFN11_ENST00000308377.4_Missense_Mutation_p.F857L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	857					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.F857L(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCCTGAGAATCGCCGAA	0.488																																					p.F857L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2571A	17						.						259.0	227.0	238.0					17																	33679510		2203	4300	6503	30703623	SO:0001583	missense	91607	exon6			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2571C>A	17.37:g.33679510G>T	ENSP00000378067:p.Phe857Leu		30703623	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	g	17.46	3.394722	0.62066	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.84070	-1.8;-1.8	4.0	0.506	0.16961	.	0.000000	0.48767	D	0.000171	D	0.88570	0.6472	M	0.83384	2.64	0.27046	N	0.963894	D	0.89917	1.0	D	0.78314	0.991	T	0.79843	-0.1632	10	0.87932	D	0	.	5.8649	0.18768	0.4276:0.0:0.5724:0.0	.	857	Q7Z7L1	SLN11_HUMAN	L	857	ENSP00000312402:F857L;ENSP00000378067:F857L	ENSP00000312402:F857L	F	-	3	2	SLFN11	30703623	0.723000	0.28027	0.924000	0.36721	0.845000	0.48019	-0.428000	0.06991	0.010000	0.14839	-0.140000	0.14226	TTC		0.488	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN11	91607	broad.mit.edu	37	17	33679887	33679887	+	Missense_Mutation	SNP	G	G	A	rs200734680		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33679887G>A	ENST00000394566.1	-	7	2466	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	732					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R732C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCATTGCGAACTATTCTG	0.443																																					p.R732C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2194T	17						.						141.0	139.0	140.0					17																	33679887		2203	4300	6503	30704000	SO:0001583	missense	91607	exon6			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2194C>T	17.37:g.33679887G>A	ENSP00000378067:p.Arg732Cys		30704000	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	g	9.725	1.160599	0.21454	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.98105	-4.72;-4.72	3.85	2.88	0.33553	.	0.000000	0.48767	D	0.000176	D	0.95850	0.8649	M	0.79926	2.475	0.25052	N	0.991124	D	0.54397	0.966	B	0.39094	0.29	D	0.91658	0.5340	10	0.87932	D	0	.	7.3942	0.26927	0.1209:0.0:0.8791:0.0	.	732	Q7Z7L1	SLN11_HUMAN	C	732	ENSP00000312402:R732C;ENSP00000378067:R732C	ENSP00000312402:R732C	R	-	1	0	SLFN11	30704000	0.115000	0.22152	0.016000	0.15963	0.130000	0.20726	2.299000	0.43611	0.953000	0.37825	0.655000	0.94253	CGC		0.443	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN11	91607	broad.mit.edu	37	17	33690347	33690347	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33690347G>T	ENST00000394566.1	-	4	752	c.480C>A	c.(478-480)atC>atA	p.I160I	SLFN11_ENST00000308377.4_Silent_p.I160I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	160					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I160I(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCTTCCAAGATTTTTGGCT	0.458																																					p.I160I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480A	17						.						96.0	99.0	98.0					17																	33690347		2203	4300	6503	30714460	SO:0001819	synonymous_variant	91607	exon3			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.480C>A	17.37:g.33690347G>T			30714460	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.458	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN11	91607	broad.mit.edu	37	17	33690785	33690785	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33690785G>A	ENST00000394566.1	-	4	314	c.42C>T	c.(40-42)taC>taT	p.Y14Y	SLFN11_ENST00000308377.4_Silent_p.Y14Y	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	14					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.Y14Y(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGTCTGGGTAAGATGGTT	0.423																																					p.Y14Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.C42T	17						.						65.0	70.0	68.0					17																	33690785		2202	4300	6502	30714898	SO:0001819	synonymous_variant	91607	exon3			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.42C>T	17.37:g.33690785G>A			30714898	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	CCDS11294.1																																																																																				0.423	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN12	55106	broad.mit.edu	37	17	33749255	33749255	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33749255C>T	ENST00000394562.1	-	4	1316	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLFN12_ENST00000452764.3_Missense_Mutation_p.E265K|SLFN12_ENST00000304905.5_Missense_Mutation_p.E265K|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	265							ATP binding (GO:0005524)	p.E265K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGACTTTTCGATTTCTCTT	0.343																																					p.E265K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	17						.						81.0	84.0	83.0					17																	33749255		2203	4300	6503	30773368	SO:0001583	missense	55106	exon2			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.793G>A	17.37:g.33749255C>T	ENSP00000378063:p.Glu265Lys		30773368	NM_018042	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	C	8.465	0.856150	0.17106	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.64618	-0.11;-0.11;-0.11	3.49	-1.62	0.08372	.	.	.	.	.	T	0.37128	0.0992	L	0.35854	1.095	0.09310	N	1	P	0.36647	0.563	B	0.25140	0.058	T	0.19257	-1.0311	9	0.14656	T	0.56	.	3.5778	0.07941	0.0:0.433:0.1951:0.3719	.	265	Q8IYM2	SLN12_HUMAN	K	265	ENSP00000378063:E265K;ENSP00000302077:E265K;ENSP00000394903:E265K	ENSP00000302077:E265K	E	-	1	0	SLFN12	30773368	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.127000	0.10547	-0.031000	0.13781	-0.436000	0.05848	GAA		0.343	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042	
SLFN13	146857	broad.mit.edu	37	17	33768653	33768653	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33768653C>T	ENST00000285013.6	-	5	2126	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	SLFN13_ENST00000534689.1_Silent_p.R299R|SLFN13_ENST00000542635.1_Silent_p.R617R|SLFN13_ENST00000526861.1_Silent_p.R617R|SLFN13_ENST00000533791.1_Silent_p.R617R|SLFN13_ENST00000360502.2_Silent_p.R299R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	617						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.R617R(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAACACATTCCTGATCTTCT	0.458																																					p.R617R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1851A	17						.						38.0	41.0	40.0					17																	33768653		2191	4278	6469	30792766	SO:0001819	synonymous_variant	146857	exon5			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1851G>A	17.37:g.33768653C>T			30792766	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	CCDS32620.1																																																																																				0.458	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
PEX12	5193	broad.mit.edu	37	17	33904198	33904198	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33904198C>T	ENST00000225873.4	-	2	1146	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	180					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R180Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAGGATGTATCGAAGTTGTTG	0.507																																					p.R180Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	17						.						94.0	88.0	90.0					17																	33904198		2203	4300	6503	30928311	SO:0001583	missense	5193	exon2			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.539G>A	17.37:g.33904198C>T	ENSP00000225873:p.Arg180Gln		30928311	NM_000286	B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646452	0.29246	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.82803	-1.65	5.63	-3.86	0.04230	Pex, N-terminal (1);	0.707462	0.14200	N	0.334744	T	0.70552	0.3237	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52518	-0.8565	10	0.33940	T	0.23	0.5578	11.8245	0.52259	0.0:0.4505:0.0:0.5495	.	180	O00623	PEX12_HUMAN	Q	180	ENSP00000225873:R180Q	ENSP00000225873:R180Q	R	-	2	0	PEX12	30928311	0.000000	0.05858	0.332000	0.25469	0.897000	0.52465	-0.369000	0.07533	-0.943000	0.03691	-0.300000	0.09419	CGA		0.507	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
PEX12	5193	broad.mit.edu	37	17	33904465	33904465	+	Missense_Mutation	SNP	C	C	A	rs61752100		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33904465C>A	ENST00000225873.4	-	2	879	c.272G>T	c.(271-273)aGa>aTa	p.R91I	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	91					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R91I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATTACAATTCTCTTTAAGCC	0.423																																					p.R91I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272T	17						.						151.0	170.0	163.0					17																	33904465		2203	4300	6503	30928578	SO:0001583	missense	5193	exon2			U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.272G>T	17.37:g.33904465C>A	ENSP00000225873:p.Arg91Ile		30928578	NM_000286	B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063198	0.93898	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.85955	-2.05	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94316	0.7549	10	0.87932	D	0	-16.826	18.3052	0.90177	0.0:1.0:0.0:0.0	.	91	O00623	PEX12_HUMAN	I	91	ENSP00000225873:R91I	ENSP00000225873:R91I	R	-	2	0	PEX12	30928578	1.000000	0.71417	0.891000	0.34965	0.936000	0.57629	7.104000	0.77024	2.568000	0.86640	0.650000	0.86243	AGA		0.423	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
AP2B1	163	broad.mit.edu	37	17	33954701	33954701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:33954701C>T	ENST00000262325.7	+	9	1664	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	AP2B1_ENST00000537622.2_Nonsense_Mutation_p.R371*|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Nonsense_Mutation_p.R371*|AP2B1_ENST00000592545.1_Nonsense_Mutation_p.R333*|AP2B1_ENST00000538556.1_Nonsense_Mutation_p.R314*|AP2B1_ENST00000589344.1_Nonsense_Mutation_p.R371*	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	371					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)	p.R371*(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGACTTTGTTCGAAAAGCTGT	0.443																																					p.R371X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1111T	17						.						123.0	115.0	117.0					17																	33954701		2203	4300	6503	30978814	SO:0001587	stop_gained	163	exon9			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1111C>T	17.37:g.33954701C>T	ENSP00000262325:p.Arg371*		30978814	NM_001282	A6NJP3|P21851|Q7Z451|Q96J19	Nonsense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	40	8.032689	0.98619	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9073	13.8298	0.63373	0.1528:0.8472:0.0:0.0	.	.	.	.	X	371;371;314;371;108	.	ENSP00000262325:R371X	R	+	1	2	AP2B1	30978814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.663000	0.61532	2.712000	0.92718	0.650000	0.86243	CGA		0.443	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
GAS2L2	246176	broad.mit.edu	37	17	34073225	34073225	+	Missense_Mutation	SNP	C	C	T	rs202100272		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34073225C>T	ENST00000254466.6	-	6	1318	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D415N	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	431					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.D431N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCCGGCGTCGGTTCCCCAG	0.582																																					p.D431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	17						.						124.0	137.0	132.0					17																	34073225		2203	4300	6503	31097338	SO:0001583	missense	246176	exon6			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1291G>A	17.37:g.34073225C>T	ENSP00000254466:p.Asp431Asn		31097338	NM_139285	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	1.393	-0.580225	0.03854	.	.	ENSG00000132139	ENST00000254466	T	0.18174	2.23	5.3	-1.62	0.08372	.	0.711655	0.13119	N	0.412336	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B	0.26318	0.146	B	0.17098	0.017	T	0.35375	-0.9791	10	0.22109	T	0.4	-0.1391	1.8601	0.03187	0.2387:0.3534:0.2814:0.1265	.	431	Q8NHY3	GA2L2_HUMAN	N	431	ENSP00000254466:D431N	ENSP00000254466:D431N	D	-	1	0	GAS2L2	31097338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.002000	0.13061	0.109000	0.17891	-1.131000	0.01979	GAC		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
HEATR9	256957	broad.mit.edu	37	17	34191513	34191513	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34191513G>T	ENST00000311880.2	-	5	646	c.498C>A	c.(496-498)ttC>ttA	p.F166L	C17orf66_ENST00000592980.1_Missense_Mutation_p.F126L|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		166					hematopoietic progenitor cell differentiation (GO:0002244)			p.F166L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTGCTGCATAGAACTGCTCAT	0.483																																					p.F166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C498A	17						.						128.0	119.0	122.0					17																	34191513		2203	4300	6503	31215626	SO:0001583	missense	256957	exon5																														ENST00000311880.2:c.498C>A	17.37:g.34191513G>T	ENSP00000309560:p.Phe166Leu		31215626	NM_152781	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	2.405	-0.336644	0.05278	.	.	ENSG00000172653	ENST00000311880	T	0.42513	0.97	5.17	1.98	0.26296	Armadillo-like helical (1);Armadillo-type fold (1);	2.038100	0.02015	N	0.047308	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.19224	-1.0312	10	0.09084	T	0.74	.	3.574	0.07927	0.0921:0.1836:0.5623:0.162	.	132;126;166	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	L	166	ENSP00000309560:F166L	ENSP00000309560:F166L	F	-	3	2	C17orf66	31215626	0.912000	0.30974	0.006000	0.13384	0.974000	0.67602	1.257000	0.32932	0.294000	0.22547	0.655000	0.94253	TTC		0.483	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1		
MYO19	80179	broad.mit.edu	37	17	34869523	34869523	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34869523G>A	ENST00000431794.3	-	10	1288	c.766C>T	c.(766-768)Cct>Tct	p.P256S	MYO19_ENST00000544606.1_Missense_Mutation_p.P122S|MYO19_ENST00000586007.1_Missense_Mutation_p.P256S|MYO19_ENST00000268852.9_Missense_Mutation_p.P256S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	256	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P256S(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCTCCCTCAGGAAGGTGCCAC	0.617																																					p.P256S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C766T	17						.						65.0	70.0	69.0					17																	34869523		2064	4200	6264	31943636	SO:0001583	missense	80179	exon11			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.766C>T	17.37:g.34869523G>A	ENSP00000409936:p.Pro256Ser		31943636	NM_001163735	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354611	0.61293	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.86366	-2.11;-2.11;-2.11	5.55	5.55	0.83447	Myosin head, motor domain (2);	0.000000	0.42294	D	0.000739	T	0.81384	0.4811	N	0.25286	0.73	0.45883	D	0.998731	B;P;B;P	0.49635	0.242;0.926;0.059;0.811	B;P;B;B	0.44772	0.101;0.46;0.039;0.383	T	0.79647	-0.1716	10	0.23302	T	0.38	.	16.2213	0.82258	0.0:0.0:1.0:0.0	.	122;256;256;256	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	S	256;256;122	ENSP00000409936:P256S;ENSP00000268852:P256S;ENSP00000438365:P122S	ENSP00000268852:P256S	P	-	1	0	MYO19	31943636	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	4.518000	0.60510	2.622000	0.88805	0.655000	0.94253	CCT		0.617	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
GGNBP2	79893	broad.mit.edu	37	17	34923534	34923534	+	Missense_Mutation	SNP	C	C	T	rs201874238		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34923534C>T	ENST00000304718.4	+	6	876	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	187					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.S187L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAACTAATGTCGCAGGAATGC	0.358																																					p.S187L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C560T	17						.						175.0	163.0	167.0					17																	34923534		2203	4300	6503	31997647	SO:0001583	missense	79893	exon6			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.560C>T	17.37:g.34923534C>T	ENSP00000307617:p.Ser187Leu		31997647	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764020	0.89932	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.053487	0.85682	D	0.000000	T	0.75686	0.3883	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.65987	0.94;0.736	T	0.76471	-0.2947	9	0.59425	D	0.04	-5.1991	19.4017	0.94632	0.0:1.0:0.0:0.0	.	187;187	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	L	187	.	ENSP00000307617:S187L	S	+	2	0	GGNBP2	31997647	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.191000	0.77763	2.577000	0.86979	0.558000	0.71614	TCG		0.358	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
GGNBP2	79893	broad.mit.edu	37	17	34935715	34935715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34935715G>T	ENST00000304718.4	+	8	1202	c.886G>T	c.(886-888)Gaa>Taa	p.E296*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	296					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E296*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TATAGCTCAAGAAGAAGTTCT	0.398																																					p.E296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G886T	17						.						165.0	168.0	167.0					17																	34935715		2203	4300	6503	32009828	SO:0001587	stop_gained	79893	exon8			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.886G>T	17.37:g.34935715G>T	ENSP00000307617:p.Glu296*		32009828	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Nonsense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	40	7.929888	0.98565	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.3002	19.5755	0.95441	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000307617:E296X	E	+	1	0	GGNBP2	32009828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.026000	0.93700	2.700000	0.92200	0.585000	0.79938	GAA		0.398	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
OR1E1	8387	broad.mit.edu	37	17	3300895	3300895	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3300895C>A	ENST00000322608.2	-	1	809	c.810G>T	c.(808-810)aaG>aaT	p.K270N		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K270N(1)		endometrium(3)|large_intestine(2)|lung(5)	10						TGACAGTGTCCTTTAGAGTAG	0.493																																					p.K270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G810T	17						.						105.0	97.0	100.0					17																	3300895		2203	4300	6503	3247645	SO:0001583	missense	8387	exon1			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.810G>T	17.37:g.3300895C>A	ENSP00000313384:p.Lys270Asn		3247645	NM_003553	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	C	8.451	0.853052	0.17106	.	.	ENSG00000180016	ENST00000322608	T	0.00107	8.72	4.69	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.088454	0.49916	D	0.000136	T	0.00241	0.0007	M	0.77313	2.365	0.29456	N	0.858114	B	0.27625	0.183	B	0.37387	0.248	T	0.02661	-1.1127	10	0.52906	T	0.07	.	7.6329	0.28249	0.0:0.6473:0.0:0.3527	.	270	P30953	OR1E1_HUMAN	N	270	ENSP00000313384:K270N	ENSP00000313384:K270N	K	-	3	2	OR1E1	3247645	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	-0.020000	0.12525	0.602000	0.29896	0.591000	0.81541	AAG		0.493	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553	
GGNBP2	79893	broad.mit.edu	37	17	34941781	34941781	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:34941781G>A	ENST00000304718.4	+	10	1583	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	423					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.D423N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGCACTGAAGATGGTAATAC	0.393																																					p.D423N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267A	17						.						104.0	107.0	106.0					17																	34941781		2203	4300	6503	32015894	SO:0001583	missense	79893	exon10			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1267G>A	17.37:g.34941781G>A	ENSP00000307617:p.Asp423Asn		32015894	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.291464	0.80914	.	.	ENSG00000005955	ENST00000304718	.	.	.	6.17	6.17	0.99709	.	0.090226	0.85682	D	0.000000	T	0.38719	0.1051	N	0.14661	0.345	0.80722	D	1	P;B;B	0.39480	0.675;0.241;0.13	B;B;B	0.35550	0.205;0.094;0.071	T	0.29427	-1.0012	9	0.44086	T	0.13	-23.2201	19.0599	0.93085	0.0:0.0:1.0:0.0	.	423;423;423	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	N	423	.	ENSP00000307617:D423N	D	+	1	0	GGNBP2	32015894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.383000	0.79741	2.941000	0.99782	0.655000	0.94253	GAT		0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
ACACA	31	broad.mit.edu	37	17	35518742	35518742	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:35518742G>A	ENST00000394406.2	-	42	5381	c.5191C>T	c.(5191-5193)Cgc>Tgc	p.R1731C	ACACA_ENST00000335166.5_Missense_Mutation_p.R1653C|ACACA_ENST00000353139.5_Missense_Mutation_p.R1768C|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.R1673C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1731	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1673C(2)|p.R1768C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACATATGGCGAATTTCTTCT	0.448																																					p.R1768C	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5302T	17						.						184.0	146.0	159.0					17																	35518742		2203	4300	6503	32592855	SO:0001583	missense	31	exon42			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5191C>T	17.37:g.35518742G>A	ENSP00000377928:p.Arg1731Cys		32592855	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141556	0.77775	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.01	5.01	0.66863	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.995;0.994	D;D;P;P	0.66847	0.921;0.947;0.892;0.827	D	0.98839	1.0754	10	0.62326	D	0.03	-8.6175	18.692	0.91586	0.0:0.0:1.0:0.0	.	430;1768;1731;1673	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	C	1768;1673;1731;1755;1653;430	ENSP00000344789:R1768C;ENSP00000353898:R1673C;ENSP00000377928:R1731C;ENSP00000335323:R1653C	ENSP00000335323:R1653C	R	-	1	0	ACACA	32592855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.447000	0.52936	2.488000	0.83962	0.467000	0.42956	CGC		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
ACACA	31	broad.mit.edu	37	17	35581989	35581989	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:35581989C>T	ENST00000394406.2	-	27	3477	c.3287G>A	c.(3286-3288)cGc>cAc	p.R1096H	ACACA_ENST00000335166.5_Missense_Mutation_p.R1018H|ACACA_ENST00000353139.5_Missense_Mutation_p.R1133H|ACACA_ENST00000360679.3_Missense_Mutation_p.R1038H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1096					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1038H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGGTTATGGCGAAGCTCATA	0.368																																					p.R1133H	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3398A	17						.						106.0	97.0	100.0					17																	35581989		2203	4300	6503	32656102	SO:0001583	missense	31	exon27			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3287G>A	17.37:g.35581989C>T	ENSP00000377928:p.Arg1096His		32656102	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678160	0.88542	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.95	5.95	0.96441	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.986;0.999;1.0	D;D;D	0.73380	0.919;0.973;0.98	D	0.94193	0.7443	10	0.87932	D	0	-2.0597	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1133;1096;1038	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	1133;1038;1096;1120;1018	ENSP00000344789:R1133H;ENSP00000353898:R1038H;ENSP00000377928:R1096H;ENSP00000335323:R1018H	ENSP00000335323:R1018H	R	-	2	0	ACACA	32656102	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.770000	0.85390	2.824000	0.97209	0.655000	0.94253	CGC		0.368	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
DDX52	11056	broad.mit.edu	37	17	35984404	35984404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:35984404C>A	ENST00000349699.2	-	9	1256	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	DDX52_ENST00000394367.3_Nonsense_Mutation_p.E297*	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	405	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.E405*(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TTAACAAGTTCTCTCATGGCC	0.378																																					p.E405X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1213T	17						.						99.0	98.0	98.0					17																	35984404		2203	4300	6503	33058517	SO:0001587	stop_gained	11056	exon9			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1213G>T	17.37:g.35984404C>A	ENSP00000268854:p.Glu405*		33058517	NM_007010	Q86YG1|Q8N213|Q9NVE0|Q9Y482	Nonsense_Mutation	SNP	ENST00000349699.2	37	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	41	8.677848	0.98912	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	.	.	.	5.8	3.78	0.43462	.	0.321948	0.36703	N	0.002458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-17.8479	10.7204	0.46036	0.0:0.7966:0.1324:0.071	.	.	.	.	X	405;297	.	ENSP00000268854:E405X	E	-	1	0	DDX52	33058517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.000000	0.63940	0.770000	0.33336	0.650000	0.86243	GAA		0.378	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300	
ASPA	443	broad.mit.edu	37	17	3385003	3385003	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3385003C>A	ENST00000263080.2	+	2	501	c.343C>A	c.(343-345)Ctt>Att	p.L115I	ASPA_ENST00000456349.2_Missense_Mutation_p.L115I|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	115					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.L115I(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TATTTTTGACCTTCACAACAC	0.338																																					p.L115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343A	17						.						83.0	77.0	79.0					17																	3385003		2203	4300	6503	3331753	SO:0001583	missense	443	exon2			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.343C>A	17.37:g.3385003C>A	ENSP00000263080:p.Leu115Ile		3331753	NM_000049		Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.249553	0.80024	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.99494	-6.01;-6.01	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99218	1.0878	10	0.48119	T	0.1	-24.7928	19.0107	0.92871	0.0:1.0:0.0:0.0	.	115	P45381	ACY2_HUMAN	I	115	ENSP00000409976:L115I;ENSP00000263080:L115I	ENSP00000263080:L115I	L	+	1	0	ASPA	3331753	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.742000	0.68646	2.812000	0.96745	0.557000	0.71058	CTT		0.338	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	
ASPA	443	broad.mit.edu	37	17	3402365	3402365	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3402365C>T	ENST00000263080.2	+	6	1083	c.925C>T	c.(925-927)Cgc>Tgc	p.R309C	ASPA_ENST00000456349.2_Missense_Mutation_p.R309C|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	309					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.R309C(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AAAAAGTATTCGCTGCTGTTT	0.408																																					p.R309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	17						.						92.0	78.0	83.0					17																	3402365		2203	4300	6503	3349115	SO:0001583	missense	443	exon6			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.925C>T	17.37:g.3402365C>T	ENSP00000263080:p.Arg309Cys		3349115	NM_000049		Missense_Mutation	SNP	ENST00000263080.2	37	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.655737	0.29425	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.95788	-3.81;-3.81	5.76	-1.88	0.07713	.	0.453783	0.26096	N	0.026367	D	0.85234	0.5650	N	0.08118	0	0.41628	D	0.989003	B	0.09022	0.002	B	0.01281	0.0	T	0.71258	-0.4646	10	0.72032	D	0.01	3.0086	4.7804	0.13199	0.215:0.4162:0.0:0.3689	.	309	P45381	ACY2_HUMAN	C	309	ENSP00000409976:R309C;ENSP00000263080:R309C	ENSP00000263080:R309C	R	+	1	0	ASPA	3349115	0.807000	0.29009	0.814000	0.32528	0.289000	0.27227	0.647000	0.24812	-0.028000	0.13850	-0.229000	0.12294	CGC		0.408	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	
HNF1B	6928	broad.mit.edu	37	17	36064986	36064986	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36064986T>G	ENST00000225893.4	-	6	1638	c.1277A>C	c.(1276-1278)aAt>aCt	p.N426T	HNF1B_ENST00000560016.1_Missense_Mutation_p.N426T|HNF1B_ENST00000561193.1_Missense_Mutation_p.N400T|HNF1B_ENST00000427275.2_Missense_Mutation_p.N400T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	426					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N426T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGCTGGGGATTATGGTGGGA	0.478																																					p.N400T	Colon(71;102 1179 9001 27917 43397)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1199C	17						.						189.0	180.0	183.0					17																	36064986		2203	4300	6503	33139099	SO:0001583	missense	6928	exon6			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1277A>C	17.37:g.36064986T>G	ENSP00000225893:p.Asn426Thr		33139099	NM_001165923	B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	CCDS11324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.64|11.64	1.697789|1.697789	0.30142|0.30142	.|.	.|.	ENSG00000108753|ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000539087|ENST00000544593	D;D|.	0.97041|.	-4.22;-4.22|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);|.	0.196474|.	0.53938|.	D|.	0.000051|.	T|.	0.63616|.	0.2526|.	L|L	0.51422|0.51422	1.61|1.61	0.37002|0.37002	D|D	0.895322|0.895322	B;B|.	0.28178|.	0.146;0.202|.	B;B|.	0.36766|.	0.232;0.183|.	T|.	0.66960|.	-0.5791|.	10|.	0.24483|.	T|.	0.36|.	-10.5811|-10.5811	14.969|14.969	0.71217|0.71217	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	400;426|.	E0YMJ6;P35680|.	.;HNF1B_HUMAN|.	T|Y	426;400;314|426	ENSP00000225893:N426T;ENSP00000412212:N400T|.	ENSP00000225893:N426T|.	N|X	-|-	2|3	0|2	HNF1B|HNF1B	33139099|33139099	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	2.659000|2.659000	0.46741|0.46741	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.478	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	
GPR179	440435	broad.mit.edu	37	17	36482770	36482770	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36482770C>A	ENST00000342292.4	-	11	6702	c.6682G>T	c.(6682-6684)Gat>Tat	p.D2228Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2228					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D2228Y(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTTCTGGATCTGTGATTTCC	0.542																																					p.D2228Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6682T	17						.						104.0	102.0	103.0					17																	36482770		1980	4166	6146	33736296	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6682G>T	17.37:g.36482770C>A	ENSP00000345060:p.Asp2228Tyr		33736296	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120025	0.77323	.	.	ENSG00000188888	ENST00000342292	T	0.61158	0.13	4.85	4.85	0.62838	.	0.000000	0.39475	N	0.001357	T	0.72203	0.3431	L	0.57536	1.79	0.49130	D	0.999758	D	0.89917	1.0	D	0.68192	0.956	T	0.75342	-0.3351	10	0.87932	D	0	-16.0563	16.9087	0.86135	0.0:1.0:0.0:0.0	.	2228	Q6PRD1	GP179_HUMAN	Y	2228	ENSP00000345060:D2228Y	ENSP00000345060:D2228Y	D	-	1	0	GPR179	33736296	0.046000	0.20272	1.000000	0.80357	0.990000	0.78478	1.569000	0.36428	2.516000	0.84829	0.460000	0.39030	GAT		0.542	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36483702	36483702	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36483702C>A	ENST00000342292.4	-	11	5770	c.5750G>T	c.(5749-5751)aGa>aTa	p.R1917I	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1917					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1917I(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGGTCTTGTCTCAGGTCCCC	0.507																																					p.R1917I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5750T	17						.						78.0	77.0	77.0					17																	36483702		1929	4148	6077	33737228	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5750G>T	17.37:g.36483702C>A	ENSP00000345060:p.Arg1917Ile		33737228	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768656	0.49680	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	4.9	-0.548	0.11833	.	0.775586	0.11371	N	0.570869	T	0.30603	0.0770	L	0.36672	1.1	0.09310	N	0.999999	B	0.14805	0.011	B	0.08055	0.003	T	0.26395	-1.0104	10	0.54805	T	0.06	-1.0916	1.5965	0.02665	0.1295:0.2716:0.1654:0.4336	.	1917	Q6PRD1	GP179_HUMAN	I	1917	ENSP00000345060:R1917I	ENSP00000345060:R1917I	R	-	2	0	GPR179	33737228	0.000000	0.05858	0.926000	0.36857	0.612000	0.37316	-1.366000	0.02585	-0.198000	0.10333	0.561000	0.74099	AGA		0.507	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36484436	36484436	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36484436T>G	ENST00000342292.4	-	11	5036	c.5016A>C	c.(5014-5016)caA>caC	p.Q1672H	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1672					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q1672H(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAGAAGGGTTTGGGGTCTCT	0.562																																					p.Q1672H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5016C	17						.						114.0	113.0	113.0					17																	36484436		1944	4148	6092	33737962	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5016A>C	17.37:g.36484436T>G	ENSP00000345060:p.Gln1672His		33737962	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.411532	0.42817	.	.	ENSG00000188888	ENST00000342292	T	0.52526	0.66	4.92	2.62	0.31277	.	1.264610	0.05442	N	0.547844	T	0.41373	0.1156	L	0.34521	1.04	0.09310	N	1	P	0.46706	0.883	P	0.44811	0.461	T	0.30909	-0.9962	10	0.54805	T	0.06	-1.7208	5.2746	0.15643	0.1566:0.0874:0.0:0.756	.	1672	Q6PRD1	GP179_HUMAN	H	1672	ENSP00000345060:Q1672H	ENSP00000345060:Q1672H	Q	-	3	2	GPR179	33737962	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.296000	0.08287	0.874000	0.35823	-0.336000	0.08194	CAA		0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36485720	36485720	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36485720G>A	ENST00000342292.4	-	11	3752	c.3732C>T	c.(3730-3732)tgC>tgT	p.C1244C	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1244					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C1244C(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCCCAGGGGCATACCTCTG	0.602																																					p.C1244C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3732T	17						.						71.0	76.0	75.0					17																	36485720		1947	4156	6103	33739246	SO:0001819	synonymous_variant	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3732C>T	17.37:g.36485720G>A			33739246	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.602	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36486506	36486506	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36486506G>A	ENST00000342292.4	-	11	2966	c.2946C>T	c.(2944-2946)tcC>tcT	p.S982S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	982					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S982S(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCTTTGTGGGGATActggga	0.612																																					p.S982S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2946T	17						.						40.0	43.0	42.0					17																	36486506		1980	4162	6142	33740032	SO:0001819	synonymous_variant	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2946C>T	17.37:g.36486506G>A			33740032	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
GPR179	440435	broad.mit.edu	37	17	36493059	36493059	+	Silent	SNP	G	G	A	rs149830172	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36493059G>A	ENST00000342292.4	-	4	1049	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	343					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F343F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGGGAACCCGAATTGCCCGG	0.577													G|||	8	0.00159744	0.0061	0.0	5008	,	,		19139	0.0		0.0	False		,,,				2504	0.0				p.F343F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029T	17						.	G		18,4000		0,18,1991	35.0	37.0	36.0		1029	-9.0	0.0	17	dbSNP_134	36	0,8342		0,0,4171	no	coding-synonymous	GPR179	NM_001004334.2		0,18,6162	AA,AG,GG		0.0,0.448,0.1456		343/2368	36493059	18,12342	2009	4171	6180	33746585	SO:0001819	synonymous_variant	440435	exon4				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1029C>T	17.37:g.36493059G>A			33746585	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
TRPV1	7442	broad.mit.edu	37	17	3475529	3475529	+	Silent	SNP	G	G	A	rs548898102	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3475529G>A	ENST00000571088.1	-	14	2331	c.2118C>T	c.(2116-2118)atC>atT	p.I706I	TRPV1_ENST00000425167.2_Silent_p.I717I|TRPV1_ENST00000174621.6_Silent_p.I704I|TRPV1_ENST00000399756.4_Silent_p.I706I|SHPK_ENST00000572705.1_Silent_p.I706I|TRPV1_ENST00000310522.5_Silent_p.I646I|TRPV1_ENST00000576351.1_Silent_p.I696I|TRPV1_ENST00000399759.3_Silent_p.I706I	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	706	AD. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.I717I(1)|p.I706I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCGTGTCCAGGATGGTGATGG	0.617																																					p.S706F	Melanoma(38;962 1762 15789)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2117T	17						.						51.0	54.0	53.0					17																	3475529		2092	4232	6324	3422279	SO:0001819	synonymous_variant	7442	exon14			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2118C>T	17.37:g.3475529G>A			3422279	NM_018727	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	CCDS45576.1																																																																																				0.617	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	
PSMB3	5691	broad.mit.edu	37	17	36909450	36909450	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:36909450G>T	ENST00000225426.4	+	2	142	c.51G>T	c.(49-51)aaG>aaT	p.K17N	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.K17N(1)		endometrium(2)|large_intestine(1)|lung(1)	4						TGAAGGGGAAGAACTGTGTGG	0.597																																					p.K17N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	17						.						48.0	43.0	44.0					17																	36909450		2203	4300	6503	34162976	SO:0001583	missense	5691	exon2			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.51G>T	17.37:g.36909450G>T	ENSP00000225426:p.Lys17Asn		34162976	NM_002795	P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775496	0.49786	.	.	ENSG00000108294	ENST00000225426	T	0.49720	0.77	5.63	3.65	0.41850	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.79926	2.475	0.80722	D	1	B	0.20368	0.044	B	0.25987	0.065	T	0.51188	-0.8737	10	0.52906	T	0.07	.	11.08	0.48053	0.1513:0.0:0.8487:0.0	.	17	P49720	PSB3_HUMAN	N	17	ENSP00000225426:K17N	ENSP00000225426:K17N	K	+	3	2	PSMB3	34162976	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.161000	0.50747	0.747000	0.32809	-0.291000	0.09656	AAG		0.597	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795	
FBXO47	494188	broad.mit.edu	37	17	37118236	37118236	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:37118236G>T	ENST00000378079.2	-	3	445	c.246C>A	c.(244-246)atC>atA	p.I82I		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	82	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.I82I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGAGGTTGAGATATAATTAA	0.388																																					p.I82I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246A	17						.						182.0	176.0	178.0					17																	37118236		2203	4300	6503	34371762	SO:0001819	synonymous_variant	494188	exon3				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.246C>A	17.37:g.37118236G>T			34371762	NM_001008777	B2RTZ4	Silent	SNP	ENST00000378079.2	37	CCDS32639.1																																																																																				0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777	
ERBB2	2064	broad.mit.edu	37	17	37866082	37866082	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:37866082G>A	ENST00000269571.5	+	5	750	c.591G>A	c.(589-591)ccG>ccA	p.P197P	ERBB2_ENST00000578199.1_Silent_p.P167P|ERBB2_ENST00000406381.2_Silent_p.P167P|ERBB2_ENST00000541774.1_Silent_p.P182P|ERBB2_ENST00000540147.1_Silent_p.P167P|ERBB2_ENST00000540042.1_Silent_p.P167P|ERBB2_ENST00000584450.1_Silent_p.P197P|ERBB2_ENST00000584601.1_Silent_p.P167P|ERBB2_ENST00000445658.2_Intron			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	197					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.P197P(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCTGTTCTCCGATGTGTAAGG	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.P167P			Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G501A	17						.						84.0	75.0	78.0					17																	37866082		2203	4300	6503	35119608	SO:0001819	synonymous_variant	2064	exon8			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.591G>A	17.37:g.37866082G>A			35119608	NM_001005862	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																				0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
ERBB2	2064	broad.mit.edu	37	17	37881410	37881410	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:37881410C>T	ENST00000269571.5	+	21	2761	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	ERBB2_ENST00000406381.2_Missense_Mutation_p.R838W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R853W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R838W|ERBB2_ENST00000584450.1_Missense_Mutation_p.R868W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R838W|ERBB2_ENST00000445658.2_Missense_Mutation_p.R592W|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	868	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R868W(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGGGCTGGCTCGGCTGCTGGA	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.R838W			Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2512T	17						.						69.0	70.0	70.0					17																	37881410		2203	4300	6503	35134936	SO:0001583	missense	2064	exon24			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2602C>T	17.37:g.37881410C>T	ENSP00000269571:p.Arg868Trp		35134936	NM_001005862	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031576	0.35797	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.09	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.95037	0.8393	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96432	0.9320	9	0.87932	D	0	.	15.8469	0.78899	0.1447:0.8553:0.0:0.0	.	592;853;868	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	W	838;853;592;868;838	ENSP00000385185:R838W;ENSP00000446466:R853W;ENSP00000404047:R592W;ENSP00000269571:R868W;ENSP00000443562:R838W	ENSP00000269571:R868W	R	+	1	2	ERBB2	35134936	0.016000	0.18221	1.000000	0.80357	0.979000	0.70002	0.296000	0.19083	2.651000	0.90000	0.563000	0.77884	CGG		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
GSDMB	55876	broad.mit.edu	37	17	38062192	38062192	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38062192T>C	ENST00000394179.1	-	8	1050	c.920A>G	c.(919-921)gAc>gGc	p.D307G	GSDMB_ENST00000309481.7_Missense_Mutation_p.D299G|GSDMB_ENST00000394175.2_Missense_Mutation_p.D290G|GSDMB_ENST00000360317.3_Missense_Mutation_p.D312G|GSDMB_ENST00000418519.1_Missense_Mutation_p.D312G|GSDMB_ENST00000520542.1_Missense_Mutation_p.D303G			Q8TAX9	GSDMB_HUMAN	gasdermin B	307						cytoplasm (GO:0005737)		p.D290G(1)|p.D312G(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GAGAGGCTTGTCTGGGTCCTC	0.537																																					p.D299G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A896G	17						.						70.0	69.0	69.0					17																	38062192		2203	4300	6503	35315718	SO:0001583	missense	55876	exon8			AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.920A>G	17.37:g.38062192T>C	ENSP00000377733:p.Asp307Gly		35315718	NM_001042471	B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.981|6.981	0.551067|0.551067	0.13374|0.13374	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179|ENST00000420491	T;T;T;T;T|.	0.22539|.	1.95;1.95;1.95;1.95;1.95|.	3.9|3.9	-2.39|-2.39	0.06602|0.06602	.|.	2.160190|.	0.02370|.	N|.	0.077800|.	T|T	0.09512|0.09512	0.0234|0.0234	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.25441|.	0.017;0.002;0.126;0.002;0.002|.	B;B;B;B;B|.	0.28916|.	0.026;0.007;0.096;0.004;0.007|.	T|T	0.30909|0.30909	-0.9962|-0.9962	10|5	0.10377|.	T|.	0.69|.	.|.	3.5981|3.5981	0.08014|0.08014	0.2129:0.0:0.2785:0.5086|0.2129:0.0:0.2785:0.5086	.|.	303;312;307;299;290|.	B4DKK7;Q8TAX9-4;Q8TAX9;Q8TAX9-3;Q8TAX9-2|.	.;.;GSDMB_HUMAN;.;.|.	G|A	307;290;299;303;312;307|244	ENSP00000377729:D290G;ENSP00000312584:D299G;ENSP00000430157:D303G;ENSP00000415049:D312G;ENSP00000377733:D307G|.	ENSP00000312584:D299G|.	D|T	-|-	2|1	0|0	GSDMB|GSDMB	35315718|35315718	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.604000|-1.604000	0.02076|0.02076	-0.158000|-0.158000	0.11040|0.11040	-1.016000|-1.016000	0.02456|0.02456	GAC|ACA		0.537	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530	
P2RX5	5026	broad.mit.edu	37	17	3592888	3592888	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3592888C>T	ENST00000225328.5	-	7	1049	c.651G>A	c.(649-651)ctG>ctA	p.L217L	P2RX5_ENST00000551178.1_Silent_p.L192L|P2RX5_ENST00000552050.1_Silent_p.L157L|P2RX5_ENST00000345901.3_Silent_p.L193L|P2RX5_ENST00000435558.1_Silent_p.L217L|P2RX5_ENST00000552276.1_Silent_p.L216L|P2RX5_ENST00000547178.1_Silent_p.L216L|P2RX5_ENST00000550772.1_Intron|P2RX5-TAX1BP3_ENST00000550383.1_Silent_p.L217L	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	217					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)	p.L217L(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGCATGATTTCAGGAAAGATC	0.572																																					p.L217L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	17						.						240.0	185.0	204.0					17																	3592888		2203	4300	6503	3539637	SO:0001819	synonymous_variant	5026	exon7			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.651G>A	17.37:g.3592888C>T			3539637	NM_002561	G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Silent	SNP	ENST00000225328.5	37	CCDS11034.1																																																																																				0.572	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207388.3	NM_002561, NM_175080, NM_175081	
GSDMA	284110	broad.mit.edu	37	17	38130558	38130558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38130558G>T	ENST00000301659.4	+	9	902	c.784G>T	c.(784-786)Gaa>Taa	p.E262*		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	262					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)		p.E262*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GACACTAAAAGAAGAAGTTCA	0.532																																					p.E262X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G784T	17						.						45.0	44.0	44.0					17																	38130558		1912	4120	6032	35384084	SO:0001587	stop_gained	284110	exon9			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.784G>T	17.37:g.38130558G>T	ENSP00000301659:p.Glu262*		35384084	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Nonsense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866810	0.91511	.	.	ENSG00000167914	ENST00000301659	.	.	.	5.66	3.33	0.38152	.	0.088358	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-14.9412	8.9799	0.35959	0.1947:0.0:0.8053:0.0	.	.	.	.	X	262	.	ENSP00000301659:E262X	E	+	1	0	GSDMA	35384084	1.000000	0.71417	0.983000	0.44433	0.792000	0.44763	1.996000	0.40776	1.400000	0.46741	0.561000	0.74099	GAA		0.532	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
MED24	9862	broad.mit.edu	37	17	38189706	38189706	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38189706G>T	ENST00000394128.2	-	7	644	c.563C>A	c.(562-564)tCt>tAt	p.S188Y	MED24_ENST00000394126.1_Missense_Mutation_p.S213Y|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000501516.3_Missense_Mutation_p.S207Y|MED24_ENST00000394127.2_Missense_Mutation_p.S175Y|MED24_ENST00000356271.3_Missense_Mutation_p.S175Y	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	188					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S188Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGCAGTCCAAGAAGCTGGCAG	0.567																																					p.S175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524A	17						.						27.0	23.0	25.0					17																	38189706		2203	4300	6503	35443232	SO:0001583	missense	9862	exon6			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.563C>A	17.37:g.38189706G>T	ENSP00000377686:p.Ser188Tyr		35443232	NM_001079518	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	9.439	1.087521	0.20390	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000543759;ENST00000535508;ENST00000431269;ENST00000428757	T;T;T;T	0.47528	0.84;0.84;0.84;0.85	5.6	3.58	0.41010	Mediator complex, subunit Med24, N-terminal (1);	0.109442	0.64402	D	0.000005	T	0.59662	0.2210	L	0.54323	1.7	0.49687	D	0.999811	D;P;P;D;P;B;P;P;P	0.64830	0.994;0.921;0.912;0.984;0.763;0.207;0.471;0.527;0.892	D;P;P;D;P;B;B;P;P	0.65874	0.939;0.671;0.757;0.921;0.549;0.074;0.421;0.557;0.518	T	0.59573	-0.7429	10	0.59425	D	0.04	-15.783	11.2392	0.48960	0.0685:0.1278:0.8037:0.0	.	162;175;138;117;138;98;175;188;130	B9TX63;B9TX65;B4DV99;B4DDR8;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;.;.;.;MED24_HUMAN;.	Y	188;188;188;138;175;130;162;162;98;207	ENSP00000377686:S188Y;ENSP00000443344:S138Y;ENSP00000377685:S175Y;ENSP00000392276:S207Y	ENSP00000348610:S188Y	S	-	2	0	MED24	35443232	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	4.723000	0.61965	0.710000	0.31997	0.609000	0.83330	TCT		0.567	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
CASC3	22794	broad.mit.edu	37	17	38297832	38297832	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38297832C>T	ENST00000264645.7	+	3	495	c.269C>T	c.(268-270)tCg>tTg	p.S90L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	90					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.S90L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCTGTTCTCTCGGATTATGAA	0.353																																					p.S90L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269T	17						.						191.0	195.0	194.0					17																	38297832		2203	4300	6503	35551358	SO:0001583	missense	22794	exon3			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.269C>T	17.37:g.38297832C>T	ENSP00000264645:p.Ser90Leu		35551358	NM_007359	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682075	0.88542	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	T	0.69041	-0.5250	9	0.87932	D	0	-7.3945	15.5918	0.76537	0.0:1.0:0.0:0.0	.	90;90	B4DKR6;O15234	.;CASC3_HUMAN	L	90	.	ENSP00000264645:S90L	S	+	2	0	CASC3	35551358	0.996000	0.38824	0.992000	0.48379	0.997000	0.91878	4.409000	0.59768	2.660000	0.90430	0.555000	0.69702	TCG		0.353	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	
ITGAE	3682	broad.mit.edu	37	17	3631413	3631413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3631413C>A	ENST00000263087.4	-	25	3060	c.2962G>T	c.(2962-2964)Gaa>Taa	p.E988*	ITGAE_ENST00000571185.1_5'UTR|CTD-3195I5.4_ENST00000575043.1_RNA	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	988					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.E988*(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAGAGGAATTCTTTGTGGTGA	0.423																																					p.E988X	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2962T	17						.						134.0	130.0	132.0					17																	3631413		2203	4300	6503	3578162	SO:0001587	stop_gained	3682	exon25			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2962G>T	17.37:g.3631413C>A	ENSP00000263087:p.Glu988*		3578162	NM_002208	Q17RS6|Q9NZU9	Nonsense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	c	37	5.986375	0.97173	.	.	ENSG00000083457	ENST00000263087	.	.	.	5.45	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.8388	0.63426	0.0:0.8466:0.1534:0.0	.	.	.	.	X	988	.	ENSP00000263087:E988X	E	-	1	0	ITGAE	3578162	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	2.773000	0.47686	1.464000	0.47987	-0.121000	0.15023	GAA		0.423	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
CDC6	990	broad.mit.edu	37	17	38457234	38457234	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38457234G>T	ENST00000209728.4	+	10	1875	c.1404G>T	c.(1402-1404)ttG>ttT	p.L468F	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	468					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.L468F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTTGCTCTTTGATGCTCTTGA	0.468																																					p.L468F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1404T	17						.						184.0	153.0	163.0					17																	38457234		2203	4300	6503	35710760	SO:0001583	missense	990	exon10			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1404G>T	17.37:g.38457234G>T	ENSP00000209728:p.Leu468Phe		35710760	NM_001254	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735606	0.69189	.	.	ENSG00000094804	ENST00000209728	T	0.54071	0.59	5.96	1.47	0.22746	Winged helix-turn-helix transcription repressor DNA-binding (1);CDC6, C-terminal (1);	0.070428	0.56097	N	0.000022	T	0.68467	0.3004	M	0.82823	2.61	0.49213	D	0.999765	D	0.89917	1.0	D	0.87578	0.998	T	0.67070	-0.5763	10	0.87932	D	0	-3.8087	6.3112	0.21166	0.0663:0.1157:0.5976:0.2205	.	468	Q99741	CDC6_HUMAN	F	468	ENSP00000209728:L468F	ENSP00000209728:L468F	L	+	3	2	CDC6	35710760	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.975000	0.40569	0.385000	0.24970	0.655000	0.94253	TTG		0.468	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		
TOP2A	7153	broad.mit.edu	37	17	38556217	38556217	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38556217C>A	ENST00000423485.1	-	24	3261	c.3103G>T	c.(3103-3105)Gaa>Taa	p.E1035*		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1035					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.E1035*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGGAGCCATTCTTTTCTTAAT	0.348																																					p.E1035X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3103T	17						.						60.0	58.0	59.0					17																	38556217		1824	4062	5886	35809743	SO:0001587	stop_gained	7153	exon24				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3103G>T	17.37:g.38556217C>A	ENSP00000411532:p.Glu1035*		35809743	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Nonsense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	43	9.875152	0.99285	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	.	.	.	5.41	5.41	0.78517	.	0.092236	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.561	0.95373	0.0:1.0:0.0:0.0	.	.	.	.	X	1035;1115;1058;1071	.	ENSP00000269577:E1115X	E	-	1	0	TOP2A	35809743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.715000	0.84713	2.696000	0.92011	0.655000	0.94253	GAA		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
ITGAE	3682	broad.mit.edu	37	17	3649210	3649210	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3649210C>T	ENST00000263087.4	-	18	2265	c.2167G>A	c.(2167-2169)Gca>Aca	p.A723T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	723					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.A723T(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTGAGAAGTGCCTCGCGGAGG	0.612																																					p.A723T	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2167A	17						.						116.0	97.0	104.0					17																	3649210		2203	4300	6503	3595959	SO:0001583	missense	3682	exon18			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2167G>A	17.37:g.3649210C>T	ENSP00000263087:p.Ala723Thr		3595959	NM_002208	Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	2.926	-0.222220	0.06061	.	.	ENSG00000083457	ENST00000263087	T	0.45276	0.9	4.33	0.703	0.18116	Integrin alpha-2 (1);	.	.	.	.	T	0.08670	0.0215	N	0.00368	-1.59	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32745	-0.9895	9	0.06099	T	0.92	.	3.1304	0.06421	0.1774:0.2106:0.0:0.612	.	723	P38570	ITAE_HUMAN	T	723	ENSP00000263087:A723T	ENSP00000263087:A723T	A	-	1	0	ITGAE	3595959	0.002000	0.14202	0.000000	0.03702	0.063000	0.16089	1.226000	0.32563	-0.017000	0.14103	-0.499000	0.04595	GCA		0.612	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
TOP2A	7153	broad.mit.edu	37	17	38569031	38569031	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38569031G>A	ENST00000423485.1	-	7	927	c.769C>T	c.(769-771)Ctt>Ttt	p.L257F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	257					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.L257F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTTCCATTAAGAAAGACTTTG	0.353																																					p.L257F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	17						.						73.0	66.0	68.0					17																	38569031		1844	4098	5942	35822557	SO:0001583	missense	7153	exon7				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.769C>T	17.37:g.38569031G>A	ENSP00000411532:p.Leu257Phe		35822557	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756000	0.49362	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.28255	1.62	5.75	5.75	0.90469	Ribosomal protein S5 domain 2-type fold (1);ATPase-like, ATP-binding domain (2);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.056397	0.64402	D	0.000001	T	0.40423	0.1116	M	0.85197	2.74	0.80722	D	1	B	0.23442	0.085	B	0.21360	0.034	T	0.29941	-0.9995	10	0.46703	T	0.11	.	14.1342	0.65276	0.0716:0.0:0.9284:0.0	.	257	P11388	TOP2A_HUMAN	F	257;256;256;259	ENSP00000411532:L257F	ENSP00000269577:L256F	L	-	1	0	TOP2A	35822557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.111000	0.57838	2.707000	0.92482	0.591000	0.81541	CTT		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
CCR7	1236	broad.mit.edu	37	17	38711994	38711994	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38711994G>T	ENST00000246657.2	-	3	199	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	CCR7_ENST00000579344.1_Missense_Mutation_p.S40Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	46					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.S46Y(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GGAGCACAAAGACTCGAACAA	0.502																																					p.S46Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C137A	17						.						111.0	93.0	99.0					17																	38711994		2203	4300	6503	35965520	SO:0001583	missense	1236	exon3				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.137C>A	17.37:g.38711994G>T	ENSP00000246657:p.Ser46Tyr		35965520	NM_001838		Missense_Mutation	SNP	ENST00000246657.2	37	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.024702	0.00041	.	.	ENSG00000126353	ENST00000246657	T	0.37235	1.21	4.74	3.75	0.43078	.	0.750410	0.12132	N	0.496655	T	0.23410	0.0566	L	0.37850	1.14	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.33163	-0.9879	10	0.02654	T	1	.	8.3128	0.32082	0.0765:0.0:0.6282:0.2952	.	46	P32248	CCR7_HUMAN	Y	46	ENSP00000246657:S46Y	ENSP00000246657:S46Y	S	-	2	0	CCR7	35965520	0.000000	0.05858	0.085000	0.20634	0.118000	0.20060	0.620000	0.24403	1.281000	0.44480	0.561000	0.74099	TCT		0.502	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1		
KRT222	125113	broad.mit.edu	37	17	38816309	38816309	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38816309G>T	ENST00000476049.1	-	3	417	c.376C>A	c.(376-378)Ctc>Atc	p.L126I	KRT222_ENST00000394052.3_Missense_Mutation_p.L126I			Q8N1A0	KT222_HUMAN	keratin 222	126						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L126I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCGTGTTGAGAAGCATCTCG	0.443																																					p.L126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376A	17						.						281.0	238.0	252.0					17																	38816309		2203	4300	6503	36069835	SO:0001583	missense	125113	exon3			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.376C>A	17.37:g.38816309G>T	ENSP00000463483:p.Leu126Ile		36069835	NM_152349	Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371441	0.95923	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.92858	-3.12	5.82	5.82	0.92795	Filament (1);	0.000000	0.64402	U	0.000019	D	0.97263	0.9105	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.97575	1.0107	10	0.87932	D	0	-7.1904	20.1086	0.97902	0.0:0.0:1.0:0.0	.	86;126	Q8N1A0-2;Q8N1A0	.;KT222_HUMAN	I	86;126	ENSP00000377616:L126I	ENSP00000377613:L86I	L	-	1	0	KRT222	36069835	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.476000	0.97823	2.756000	0.94617	0.563000	0.77884	CTC		0.443	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
KRT24	192666	broad.mit.edu	37	17	38855782	38855782	+	Silent	SNP	G	G	A	rs139679856		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38855782G>A	ENST00000264651.2	-	6	1331	c.1275C>T	c.(1273-1275)aaC>aaT	p.N425N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	425	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.N425N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TGTACTCTGCGTTCTGGCATT	0.547																																					p.N425N	GBM(61;380 1051 14702 23642 31441)											.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1275T	17						.	G		1,4405	2.1+/-5.4	0,1,2202	175.0	170.0	172.0		1275	-11.2	0.0	17	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	KRT24	NM_019016.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		425/526	38855782	1,13005	2203	4300	6503	36109308	SO:0001819	synonymous_variant	192666	exon6				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1275C>T	17.37:g.38855782G>A			36109308	NM_019016	Q9NXG7	Silent	SNP	ENST00000264651.2	37	CCDS11372.1																																																																																				0.547	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
KRT24	192666	broad.mit.edu	37	17	38857449	38857449	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38857449C>A	ENST00000264651.2	-	3	854	c.798G>T	c.(796-798)gaG>gaT	p.E266D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	266	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.E266D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAATCTGCATCTCCAGGTCAG	0.512																																					p.E266D	GBM(61;380 1051 14702 23642 31441)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G798T	17						.						132.0	114.0	120.0					17																	38857449		2203	4300	6503	36110975	SO:0001583	missense	192666	exon3				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.798G>T	17.37:g.38857449C>A	ENSP00000264651:p.Glu266Asp		36110975	NM_019016	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358581	0.41801	.	.	ENSG00000167916	ENST00000264651	D	0.91894	-2.93	5.82	4.85	0.62838	Prefoldin (1);Filament (1);	.	.	.	.	D	0.92100	0.7496	M	0.84326	2.69	0.38771	D	0.954545	B	0.29162	0.235	B	0.32465	0.146	D	0.91930	0.5554	9	0.87932	D	0	.	10.5599	0.45140	0.1345:0.7973:0.0:0.0682	.	266	Q2M2I5	K1C24_HUMAN	D	266	ENSP00000264651:E266D	ENSP00000264651:E266D	E	-	3	2	KRT24	36110975	0.194000	0.23325	1.000000	0.80357	0.380000	0.30137	0.214000	0.17541	1.458000	0.47871	-0.320000	0.08662	GAG		0.512	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
KRT24	192666	broad.mit.edu	37	17	38859543	38859543	+	Missense_Mutation	SNP	G	G	T	rs200550767		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38859543G>T	ENST00000264651.2	-	1	459	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	135	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.L135I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAGAGAAAAGCCCCCCATCG	0.532																																					p.L135I	GBM(61;380 1051 14702 23642 31441)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	17						.						191.0	206.0	201.0					17																	38859543		2203	4300	6503	36113069	SO:0001583	missense	192666	exon1				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.403C>A	17.37:g.38859543G>T	ENSP00000264651:p.Leu135Ile		36113069	NM_019016	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308362	0.60305	.	.	ENSG00000167916	ENST00000264651	D	0.83914	-1.78	5.6	5.6	0.85130	.	.	.	.	.	D	0.82609	0.5074	L	0.52759	1.655	0.33648	D	0.608114	P	0.52577	0.954	P	0.47206	0.541	D	0.87381	0.2357	9	0.52906	T	0.07	.	14.5638	0.68159	0.0:0.1459:0.8541:0.0	.	135	Q2M2I5	K1C24_HUMAN	I	135	ENSP00000264651:L135I	ENSP00000264651:L135I	L	-	1	0	KRT24	36113069	0.991000	0.36638	0.978000	0.43139	0.758000	0.43043	2.927000	0.48900	2.800000	0.96347	0.655000	0.94253	CTT		0.532	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
KRT27	342574	broad.mit.edu	37	17	38938638	38938638	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38938638G>A	ENST00000301656.3	-	1	148	c.108C>T	c.(106-108)tgC>tgT	p.C36C		NM_181537.3	NP_853515.2			keratin 27									p.C36C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTGGCACACCGCATGTGTTTC	0.602																																					p.C36C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	17						.						63.0	59.0	60.0					17																	38938638		2203	4300	6503	36192164	SO:0001819	synonymous_variant	342574	exon1			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.108C>T	17.37:g.38938638G>A			36192164	NM_181537		Silent	SNP	ENST00000301656.3	37	CCDS11375.1																																																																																				0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537	
KRT27	342574	broad.mit.edu	37	17	38938741	38938741	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38938741G>A	ENST00000301656.3	-	1	45	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_181537.3	NP_853515.2			keratin 27									p.S2F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AAAGCGCACAGACATGGTGTC	0.532																																					p.S2F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	17						.						28.0	28.0	28.0					17																	38938741		2196	4290	6486	36192267	SO:0001583	missense	342574	exon1			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.5C>T	17.37:g.38938741G>A	ENSP00000301656:p.Ser2Phe		36192267	NM_181537		Missense_Mutation	SNP	ENST00000301656.3	37	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636512	0.67130	.	.	ENSG00000171446	ENST00000301656	D	0.84800	-1.9	5.59	4.61	0.57282	.	0.217541	0.33092	N	0.005295	D	0.93077	0.7796	M	0.88031	2.925	0.45066	D	0.998084	D	0.76494	0.999	D	0.69824	0.966	D	0.94433	0.7651	10	0.87932	D	0	.	15.5062	0.75743	0.0:0.1391:0.8609:0.0	.	2	Q7Z3Y8	K1C27_HUMAN	F	2	ENSP00000301656:S2F	ENSP00000301656:S2F	S	-	2	0	KRT27	36192267	0.998000	0.40836	0.905000	0.35620	0.559000	0.35586	2.647000	0.46639	1.474000	0.48178	0.655000	0.94253	TCT		0.532	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537	
KRT10	3858	broad.mit.edu	37	17	38978478	38978478	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:38978478G>A	ENST00000269576.5	-	1	369	c.360C>T	c.(358-360)ggC>ggT	p.G120G	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	120	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)	p.G120G(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				caCCAAAGCCGCCTCCACCAA	0.542																																					p.G120G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	17						.						53.0	47.0	49.0					17																	38978478		2203	4300	6503	36232004	SO:0001819	synonymous_variant	3858	exon1			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.360C>T	17.37:g.38978478G>A			36232004	NM_000421	Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	CCDS11377.1																																																																																				0.542	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421	
KRT12	3859	broad.mit.edu	37	17	39019473	39019473	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39019473C>A	ENST00000251643.4	-	6	1241	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	406	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E406D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CGTTCTGGCGCTCTGCGTCCG	0.672																																					p.E406D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1218T	17						.						25.0	23.0	24.0					17																	39019473		2200	4292	6492	36272999	SO:0001583	missense	3859	exon6				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1218G>T	17.37:g.39019473C>A	ENSP00000251643:p.Glu406Asp		36272999	NM_000223	B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367067	0.61513	.	.	ENSG00000187242	ENST00000251643	D	0.89939	-2.59	5.05	4.09	0.47781	Filament (1);	0.000000	0.51477	D	0.000086	D	0.94703	0.8291	M	0.92317	3.295	0.41466	D	0.988079	D	0.89917	1.0	D	0.73708	0.981	D	0.94660	0.7847	10	0.87932	D	0	.	8.4926	0.33108	0.0:0.7682:0.0:0.2318	.	406	Q99456	K1C12_HUMAN	D	406	ENSP00000251643:E406D	ENSP00000251643:E406D	E	-	3	2	KRT12	36272999	0.942000	0.31987	1.000000	0.80357	0.500000	0.33767	0.869000	0.27996	1.381000	0.46364	-0.333000	0.08304	GAG		0.672	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223	
KRT20	54474	broad.mit.edu	37	17	39041055	39041055	+	Missense_Mutation	SNP	C	C	T	rs201355464		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39041055C>T	ENST00000167588.3	-	1	424	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	128	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R128Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTGACTTCGCAGCTCTTC	0.438																																					p.R128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	17						.						87.0	85.0	86.0					17																	39041055		2203	4300	6503	36294581	SO:0001583	missense	54474	exon1			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.383G>A	17.37:g.39041055C>T	ENSP00000167588:p.Arg128Gln		36294581	NM_019010	B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	6.952	0.545479	0.13312	.	.	ENSG00000171431	ENST00000167588	D	0.92595	-3.07	5.5	-2.14	0.07123	Filament (1);	0.360696	0.23393	N	0.048673	T	0.80116	0.4564	N	0.13299	0.325	0.09310	N	0.999995	B	0.17465	0.022	B	0.11329	0.006	T	0.62835	-0.6770	10	0.02654	T	1	.	14.3822	0.66919	0.0:0.5352:0.0:0.4648	.	128	P35900	K1C20_HUMAN	Q	128	ENSP00000167588:R128Q	ENSP00000167588:R128Q	R	-	2	0	KRT20	36294581	0.000000	0.05858	0.034000	0.17996	0.049000	0.14656	-0.815000	0.04481	-0.436000	0.07254	-0.302000	0.09304	CGA		0.438	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2		
KRT33B	3884	broad.mit.edu	37	17	39525698	39525698	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39525698C>A	ENST00000251646.3	-	1	354	c.305G>T	c.(304-306)aGc>aTc	p.S102I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	102	Linker 1.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S102I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGACTGGTAGCTGGGGCACAG	0.562																																					p.S102I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305T	17						.						70.0	69.0	69.0					17																	39525698		2192	4300	6492	36779224	SO:0001583	missense	3884	exon1			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.305G>T	17.37:g.39525698C>A	ENSP00000251646:p.Ser102Ile		36779224	NM_002279	O76010	Missense_Mutation	SNP	ENST00000251646.3	37	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	10.69	1.422208	0.25639	.	.	ENSG00000131738	ENST00000251646	D	0.87491	-2.26	4.41	-5.8	0.02347	Filament (1);	0.912119	0.09416	N	0.805060	T	0.71660	0.3366	N	0.04018	-0.295	0.19775	N	0.999954	B	0.26041	0.14	B	0.35073	0.195	T	0.64313	-0.6437	10	0.87932	D	0	.	7.5342	0.27700	0.0:0.5556:0.1544:0.29	.	102	Q14525	KT33B_HUMAN	I	102	ENSP00000251646:S102I	ENSP00000251646:S102I	S	-	2	0	KRT33B	36779224	0.987000	0.35691	0.023000	0.16930	0.211000	0.24417	2.075000	0.41538	-0.986000	0.03498	-0.355000	0.07637	AGC		0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279	
KRT31	3881	broad.mit.edu	37	17	39553543	39553543	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39553543C>T	ENST00000251645.2	-	1	301	c.249G>A	c.(247-249)gaG>gaA	p.E83E		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	83	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.E83E(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTTCTCCAGCTCCGCGTTGT	0.582																																					p.E83E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G249A	17						.						73.0	70.0	71.0					17																	39553543		2203	4299	6502	36807069	SO:0001819	synonymous_variant	3881	exon1			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.249G>A	17.37:g.39553543C>T			36807069	NM_002277	Q9UE12	Silent	SNP	ENST00000251645.2	37	CCDS11391.1																																																																																				0.582	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277	
KRT37	8688	broad.mit.edu	37	17	39577188	39577188	+	Missense_Mutation	SNP	C	C	T	rs138529350	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39577188C>T	ENST00000225550.3	-	7	1291	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	431	Tail.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S431N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGGCCACAGCTTGGACAAGA	0.542																																					p.S431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	17						.						70.0	72.0	71.0					17																	39577188		2203	4300	6503	36830714	SO:0001583	missense	8688	exon7			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1292G>A	17.37:g.39577188C>T	ENSP00000225550:p.Ser431Asn		36830714	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040958	0.35989	.	.	ENSG00000108417	ENST00000225550	D	0.82619	-1.63	5.38	2.2	0.27929	.	0.733893	0.12169	N	0.493188	T	0.64940	0.2644	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56062	-0.8041	10	0.59425	D	0.04	.	5.975	0.19373	0.0:0.6693:0.1551:0.1756	.	431	O76014	KRT37_HUMAN	N	431	ENSP00000225550:S431N	ENSP00000225550:S431N	S	-	2	0	KRT37	36830714	0.001000	0.12720	0.003000	0.11579	0.037000	0.13140	0.095000	0.15127	0.626000	0.30322	0.655000	0.94253	AGC		0.542	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
KRT35	3886	broad.mit.edu	37	17	39633363	39633363	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39633363C>T	ENST00000393989.1	-	7	1355	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	KRT35_ENST00000246639.2_Missense_Mutation_p.R408H	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	438	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R438H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCAGTTTGTGCGGGCTGCACT	0.612																																					p.R438H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1313A	17						.						45.0	53.0	50.0					17																	39633363		1940	4138	6078	36886889	SO:0001583	missense	3886	exon7			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1313G>A	17.37:g.39633363C>T	ENSP00000377558:p.Arg438His		36886889	NM_002280	O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	2.627	-0.287222	0.05605	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.81415	-1.49;-1.44	5.41	4.45	0.53987	.	0.212596	0.33813	N	0.004529	T	0.75213	0.3819	M	0.61703	1.905	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.61836	-0.6981	10	0.27082	T	0.32	.	10.0515	0.42219	0.0:0.9096:0.0:0.0904	.	438	Q92764	KRT35_HUMAN	H	408;438	ENSP00000246639:R408H;ENSP00000377558:R438H	ENSP00000246639:R408H	R	-	2	0	KRT35	36886889	0.005000	0.15991	0.007000	0.13788	0.020000	0.10135	0.119000	0.15626	1.522000	0.49001	0.563000	0.77884	CGC		0.612	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280	
KRT35	3886	broad.mit.edu	37	17	39635611	39635611	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39635611C>A	ENST00000393989.1	-	3	741	c.699G>T	c.(697-699)aaG>aaT	p.K233N	KRT35_ENST00000246639.2_Missense_Mutation_p.K203N	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	233	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.K233N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ccTCATGGTTCTTCTTCAGGC	0.597																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	17						.						95.0	91.0	93.0					17																	39635611		2203	4300	6503	36889137	SO:0001583	missense	3886	exon3			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.699G>T	17.37:g.39635611C>A	ENSP00000377558:p.Lys233Asn		36889137	NM_002280	O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049501	0.36181	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.89617	-2.54;-2.54	4.47	3.5	0.40072	Filament (1);	0.110120	0.40728	N	0.001021	D	0.86896	0.6043	M	0.66378	2.025	0.44092	D	0.996851	B	0.26935	0.164	B	0.30716	0.119	D	0.85181	0.1004	10	0.66056	D	0.02	.	9.3103	0.37900	0.0:0.7721:0.1453:0.0826	.	233	Q92764	KRT35_HUMAN	N	203;233	ENSP00000246639:K203N;ENSP00000377558:K233N	ENSP00000246639:K203N	K	-	3	2	KRT35	36889137	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	1.258000	0.32944	1.220000	0.43490	-0.140000	0.14226	AAG		0.597	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280	
KRT14	3861	broad.mit.edu	37	17	39742613	39742613	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39742613C>A	ENST00000167586.6	-	1	560	c.474G>T	c.(472-474)gaG>gaT	p.E158D		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	158	Linker 1.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.E158D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				AGTCTTTGATCTCAGCAGGCC	0.582																																					p.E158D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G474T	17						.						167.0	159.0	162.0					17																	39742613		2203	4300	6503	36996139	SO:0001583	missense	3861	exon1			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.474G>T	17.37:g.39742613C>A	ENSP00000167586:p.Glu158Asp		36996139	NM_000526	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	3.758	-0.050198	0.07407	.	.	ENSG00000186847	ENST00000167586	D	0.92397	-3.03	4.95	0.316	0.15857	Filament (1);	0.000000	0.53938	D	0.000044	D	0.84442	0.5473	N	0.17800	0.525	0.09310	N	1	P	0.36048	0.534	P	0.47376	0.545	T	0.73023	-0.4113	10	0.15066	T	0.55	.	1.446	0.02365	0.1452:0.3347:0.1259:0.3942	.	158	P02533	K1C14_HUMAN	D	158	ENSP00000167586:E158D	ENSP00000167586:E158D	E	-	3	2	KRT14	36996139	0.000000	0.05858	0.089000	0.20774	0.014000	0.08584	-1.989000	0.01480	0.226000	0.20979	-0.275000	0.10095	GAG		0.582	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
KRT14	3861	broad.mit.edu	37	17	39742717	39742717	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39742717C>T	ENST00000167586.6	-	1	456	c.370G>A	c.(370-372)Gac>Aac	p.D124N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	124	Coil 1A.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.D124N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCCAGGCGGTCATTGAGGTTC	0.617																																					p.D124N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	17						.						140.0	147.0	145.0					17																	39742717		2203	4297	6500	36996243	SO:0001583	missense	3861	exon1			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.370G>A	17.37:g.39742717C>T	ENSP00000167586:p.Asp124Asn		36996243	NM_000526	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970226	0.92855	.	.	ENSG00000186847	ENST00000167586	D	0.91945	-2.94	5.11	5.11	0.69529	Filament (1);	0.000000	0.56097	D	0.000024	D	0.95554	0.8555	M	0.74389	2.26	0.52501	D	0.999959	D	0.59357	0.985	D	0.63381	0.914	D	0.95755	0.8795	10	0.66056	D	0.02	.	18.9	0.92439	0.0:1.0:0.0:0.0	.	124	P02533	K1C14_HUMAN	N	124	ENSP00000167586:D124N	ENSP00000167586:D124N	D	-	1	0	KRT14	36996243	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.017000	0.70805	2.541000	0.85698	0.549000	0.68633	GAC		0.617	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
LEPREL4	10609	broad.mit.edu	37	17	39967251	39967251	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:39967251G>A	ENST00000355468.3	-	4	1117	c.651C>T	c.(649-651)agC>agT	p.S217S	LEPREL4_ENST00000393928.1_Silent_p.S217S|FKBP10_ENST00000321562.4_5'Flank			Q92791	SC65_HUMAN	leprecan-like 4	217					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.S217S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GGAAATCCCCGCTGTTGTAGA	0.662																																					p.S217S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C651T	17						.						46.0	46.0	46.0					17																	39967251		2203	4300	6503	37220777	SO:0001819	synonymous_variant	10609	exon3			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.651C>T	17.37:g.39967251G>A			37220777	NM_006455	Q53GI6|Q9H4F6	Silent	SNP	ENST00000355468.3	37	CCDS11408.1																																																																																				0.662	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2		
KLHL10	317719	broad.mit.edu	37	17	40001553	40001553	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40001553G>A	ENST00000293303.4	+	3	1013	c.860G>A	c.(859-861)cGc>cAc	p.R287H		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	287					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.R287H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ACCAGACCACGCTTGCCCTAT	0.507																																					p.R287H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	17						.						139.0	129.0	133.0					17																	40001553		2020	4170	6190	37255079	SO:0001583	missense	317719	exon3			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.860G>A	17.37:g.40001553G>A	ENSP00000293303:p.Arg287His		37255079	NM_152467	Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077421	0.94000	.	.	ENSG00000161594	ENST00000293303	T	0.73897	-0.79	6.17	6.17	0.99709	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87747	0.2589	9	.	.	.	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	281;287	B4DXV2;Q6JEL2	.;KLH10_HUMAN	H	287	ENSP00000293303:R287H	.	R	+	2	0	KLHL10	37255079	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.901000	0.92560	2.941000	0.99782	0.655000	0.94253	CGC		0.507	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	
CNP	1267	broad.mit.edu	37	17	40117342	40117342	+	5'Flank	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40117342G>T	ENST00000393892.3	+	0	0				CNP_ENST00000472031.1_5'Flank|CNP_ENST00000591072.1_5'Flank|CNP_ENST00000393888.1_5'Flank|TTC25_ENST00000591658.1_RNA	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)	p.E620D(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GAGAATTAGAGCAAAGACTCT	0.443																																					p.E556D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1668T	17						.						51.0	49.0	50.0					17																	40117342		1838	4085	5923	37370868	SO:0001631	upstream_gene_variant	83538	exon11				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502		17.37:g.40117342G>T	Exception_encountered		37370868	NM_031421		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2																																																																																				0.443	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2		
DNAJC7	7266	broad.mit.edu	37	17	40141444	40141444	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40141444T>C	ENST00000457167.4	-	7	967	c.731A>G	c.(730-732)gAg>gGg	p.E244G	DNAJC7_ENST00000426588.3_Missense_Mutation_p.E188G|DNAJC7_ENST00000316603.7_Missense_Mutation_p.E188G	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	244					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.E234G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GCAGGCCTTCTCGTGGTCAGG	0.463																																					p.E244G	Colon(63;618 1117 8600 10857 19751)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A731G	17						.						130.0	122.0	125.0					17																	40141444		1901	4127	6028	37394970	SO:0001583	missense	7266	exon7			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.731A>G	17.37:g.40141444T>C	ENSP00000406463:p.Glu244Gly		37394970	NM_003315	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502972	0.64298	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.75589	-0.79;-0.95;-0.95	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.162995	0.56097	D	0.000029	T	0.63640	0.2528	N	0.25286	0.73	0.80722	D	1	B;B;B	0.23591	0.002;0.016;0.088	B;B;B	0.20184	0.004;0.01;0.028	T	0.61753	-0.6998	10	0.52906	T	0.07	-2.9185	15.7362	0.77846	0.0:0.0:0.0:1.0	.	233;188;244	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	G	244;188;188	ENSP00000406463:E244G;ENSP00000394327:E188G;ENSP00000313311:E188G	ENSP00000313311:E188G	E	-	2	0	DNAJC7	37394970	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	7.698000	0.84413	2.135000	0.66039	0.379000	0.24179	GAG		0.463	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2		
DNAJC7	7266	broad.mit.edu	37	17	40152539	40152539	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40152539C>A	ENST00000457167.4	-	2	363	c.127G>T	c.(127-129)Gat>Tat	p.D43Y	DNAJC7_ENST00000589547.1_5'Flank|DNAJC7_ENST00000426588.3_5'UTR|DNAJC7_ENST00000316603.7_Intron	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	43					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)	p.D33Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TCATTGTAATCTTTCTTGGCA	0.318																																					p.D43Y	Colon(63;618 1117 8600 10857 19751)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127T	17						.						163.0	156.0	158.0					17																	40152539		1828	4089	5917	37406065	SO:0001583	missense	7266	exon2			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.127G>T	17.37:g.40152539C>A	ENSP00000406463:p.Asp43Tyr		37406065	NM_003315	Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793539	0.90453	.	.	ENSG00000168259	ENST00000457167	T	0.62639	0.01	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.83483	2.645	0.80722	D	1	P	0.48407	0.91	P	0.60345	0.873	T	0.80897	-0.1177	10	0.51188	T	0.08	-0.9045	18.8546	0.92246	0.0:1.0:0.0:0.0	.	43	Q99615	DNJC7_HUMAN	Y	43	ENSP00000406463:D43Y	ENSP00000406463:D43Y	D	-	1	0	DNAJC7	37406065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.429000	0.66495	2.628000	0.89032	0.650000	0.86243	GAT		0.318	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2		
GHDC	84514	broad.mit.edu	37	17	40344535	40344535	+	Missense_Mutation	SNP	C	C	T	rs148046976		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40344535C>T	ENST00000301671.8	-	4	1054	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	GHDC_ENST00000436923.2_Missense_Mutation_p.E205K|GHDC_ENST00000587427.1_Missense_Mutation_p.E205K|GHDC_ENST00000593209.1_Missense_Mutation_p.E205K|GHDC_ENST00000428494.2_Missense_Mutation_p.E166K|GHDC_ENST00000414034.3_Missense_Mutation_p.E205K|GHDC_ENST00000590520.1_5'Flank			Q8N2G8	GHDC_HUMAN	GH3 domain containing	205						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E205K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCAGAAGTTCGACAGCCGTC	0.657																																					p.E205K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	17						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4404		0,0,2202	68.0	79.0	75.0		496,613,613	4.5	0.9	17	dbSNP_134	75	1,8591		0,1,4295	no	missense,missense,missense	GHDC	NM_001142622.1,NM_001142623.1,NM_032484.4	56,56,56	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	166/492,205/475,205/531	40344535	1,12995	2202	4296	6498	37598061	SO:0001583	missense	84514	exon5			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.613G>A	17.37:g.40344535C>T	ENSP00000301671:p.Glu205Lys		37598061	NM_032484	B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427469	0.43122	0.0	1.16E-4	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.52	4.52	0.55395	.	0.190342	0.34777	N	0.003686	T	0.58581	0.2132	M	0.63428	1.95	0.31209	N	0.698871	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.967;0.9;0.996	T	0.55321	-0.8159	9	0.06757	T	0.87	-11.8629	11.497	0.50415	0.1786:0.8213:0.0:0.0	.	166;205;205	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	K	149;166;205;205;205	.	ENSP00000301671:E205K	E	-	1	0	GHDC	37598061	0.993000	0.37304	0.886000	0.34754	0.302000	0.27658	4.376000	0.59556	2.352000	0.79861	0.561000	0.74099	GAA		0.657	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484	
STAT5B	6777	broad.mit.edu	37	17	40354360	40354360	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40354360C>A	ENST00000293328.3	-	18	2403	c.2235G>T	c.(2233-2235)caG>caT	p.Q745H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	745					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q745H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCACCTACTTCTGTGGGTACA	0.637																																					p.Q745H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2235T	17						.						45.0	41.0	42.0					17																	40354360		2203	4300	6503	37607886	SO:0001583	missense	6777	exon18			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2235G>T	17.37:g.40354360C>A	ENSP00000293328:p.Gln745His		37607886	NM_012448	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568023	0.28003	.	.	ENSG00000173757	ENST00000293328	D	0.88046	-2.33	4.76	2.74	0.32292	.	0.182510	0.49916	D	0.000128	D	0.83031	0.5166	L	0.51422	1.61	0.31199	N	0.700026	P	0.38767	0.646	B	0.41813	0.367	T	0.78460	-0.2195	10	0.23302	T	0.38	-1.0E-4	10.3257	0.43792	0.0:0.7904:0.1351:0.0745	.	745	P51692	STA5B_HUMAN	H	745	ENSP00000293328:Q745H	ENSP00000293328:Q745H	Q	-	3	2	STAT5B	37607886	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	0.779000	0.26746	0.605000	0.29947	-0.140000	0.14226	CAG		0.637	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
ATP2A3	489	broad.mit.edu	37	17	3844927	3844927	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3844927C>T	ENST00000352011.3	-	13	1621	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	ATP2A3_ENST00000397035.3_Missense_Mutation_p.E523K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E523K|ATP2A3_ENST00000309890.7_Missense_Mutation_p.E523K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E523K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E523K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	523					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E523K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTACAGCGCTCGATCACACTC	0.622																																					p.E523K	GBM(32;29 774 15719 37967)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567A	17						.						31.0	35.0	34.0					17																	3844927		2203	4300	6503	3791676	SO:0001583	missense	489	exon13				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1567G>A	17.37:g.3844927C>T	ENSP00000301387:p.Glu523Lys		3791676	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946679	0.53186	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	3.8	3.8	0.43715	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.061459	0.64402	D	0.000004	T	0.79040	0.4379	L	0.28740	0.885	0.80722	D	1	D;P;B;P;P;P	0.59767	0.986;0.526;0.381;0.719;0.533;0.719	P;B;B;B;B;B	0.47705	0.555;0.091;0.103;0.131;0.131;0.131	T	0.82080	-0.0634	10	0.54805	T	0.06	.	15.9154	0.79512	0.0:1.0:0.0:0.0	.	523;523;523;523;523;523	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	523	ENSP00000380236:E523K;ENSP00000301387:E523K;ENSP00000353072:E523K;ENSP00000380234:E523K;ENSP00000312577:E523K;ENSP00000380229:E523K	ENSP00000312577:E523K	E	-	1	0	ATP2A3	3791676	1.000000	0.71417	0.969000	0.41365	0.171000	0.22731	7.604000	0.82830	2.413000	0.81919	0.561000	0.74099	GAG		0.622	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
ATP2A3	489	broad.mit.edu	37	17	3846739	3846739	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3846739G>A	ENST00000352011.3	-	11	1419	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	ATP2A3_ENST00000397035.3_Silent_p.F455F|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Silent_p.F455F|ATP2A3_ENST00000309890.7_Silent_p.F455F|ATP2A3_ENST00000397041.3_Silent_p.F455F|ATP2A3_ENST00000359983.3_Silent_p.F455F			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	455					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.F455F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCGGTGTCGAACACGTTCA	0.647																																					p.F455F	GBM(32;29 774 15719 37967)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1365T	17						.						154.0	140.0	144.0					17																	3846739		2203	4300	6503	3793488	SO:0001819	synonymous_variant	489	exon11				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1365C>T	17.37:g.3846739G>A			3793488	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	ENST00000352011.3	37	CCDS11041.1																																																																																				0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
ATP6V0A1	535	broad.mit.edu	37	17	40622172	40622172	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40622172G>T	ENST00000343619.4	+	5	482	c.359G>T	c.(358-360)aGa>aTa	p.R120I	ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R120I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R120I|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R120I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	120					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.R120I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTCTGAAGAGAAACTTCCTG	0.338																																					p.R120I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359T	17						.						30.0	32.0	31.0					17																	40622172		2203	4299	6502	37875698	SO:0001583	missense	535	exon5			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.359G>T	17.37:g.40622172G>T	ENSP00000342951:p.Arg120Ile		37875698	NM_001130021	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725397	0.89298	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	6.07	5.09	0.68999	.	0.086330	0.85682	D	0.000000	D	0.90594	0.7051	M	0.67517	2.055	0.80722	D	1	B;D;B;P	0.53462	0.146;0.96;0.257;0.537	B;P;B;B	0.55011	0.207;0.766;0.185;0.419	D	0.91127	0.4934	10	0.72032	D	0.01	-15.0799	15.6717	0.77283	0.0662:0.0:0.9338:0.0	.	120;120;120;120	B7Z3B7;Q93050;Q93050-1;F5H569	.;VPP1_HUMAN;.;.	I	120	ENSP00000342951:R120I;ENSP00000444676:R120I;ENSP00000377415:R120I;ENSP00000264649:R120I	ENSP00000264649:R120I	R	+	2	0	ATP6V0A1	37875698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.154000	0.64894	2.890000	0.99128	0.650000	0.86243	AGA		0.338	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
NAGLU	4669	broad.mit.edu	37	17	40693095	40693095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40693095G>T	ENST00000225927.2	+	5	993	c.892G>T	c.(892-894)Gag>Tag	p.E298*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	298					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)	p.E298*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTTCCTGCGAGAGCTGATCAA	0.562																																					p.E298X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G892T	17						.						132.0	125.0	128.0					17																	40693095		2203	4300	6503	37946621	SO:0001587	stop_gained	4669	exon5				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.892G>T	17.37:g.40693095G>T	ENSP00000225927:p.Glu298*		37946621	NM_000263		Nonsense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	37	6.333569	0.97480	.	.	ENSG00000108784	ENST00000225927	.	.	.	5.03	5.03	0.67393	.	0.118375	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-17.8096	12.9497	0.58391	0.0:0.1631:0.8369:0.0	.	.	.	.	X	298	.	ENSP00000225927:E298X	E	+	1	0	NAGLU	37946621	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	4.518000	0.60510	2.636000	0.89361	0.555000	0.69702	GAG		0.562	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263	
COASY	80347	broad.mit.edu	37	17	40714708	40714708	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40714708C>T	ENST00000393818.2	+	1	524	c.68C>T	c.(67-69)gCc>gTc	p.A23V	COASY_ENST00000590958.1_Missense_Mutation_p.A52V|COASY_ENST00000449624.1_Intron|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Missense_Mutation_p.A23V|COASY_ENST00000421097.2_Missense_Mutation_p.A23V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	23					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.A23V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTCGCCTGGCCTCCATCCTG	0.687																																					p.A23V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C68T	17						.						32.0	37.0	35.0					17																	40714708		2202	4296	6498	37968234	SO:0001583	missense	80347	exon2			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.68C>T	17.37:g.40714708C>T	ENSP00000377406:p.Ala23Val		37968234	NM_001042529	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766457	0.49574	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.32023	1.47;1.47	5.71	1.28	0.21552	.	0.232083	0.42964	N	0.000636	T	0.18635	0.0447	L	0.29908	0.895	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.004	T	0.05321	-1.0892	10	0.44086	T	0.13	-0.9973	5.788	0.18345	0.1315:0.5418:0.2544:0.0724	.	52;23	Q13057-2;Q13057	.;COASY_HUMAN	V	52;23;23;23	ENSP00000413338:A23V;ENSP00000377406:A23V	ENSP00000377406:A23V	A	+	2	0	COASY	37968234	0.917000	0.31117	0.749000	0.31150	0.795000	0.44927	1.835000	0.39181	0.041000	0.15688	-0.502000	0.04539	GCC		0.687	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233	
CNTNAP1	8506	broad.mit.edu	37	17	40847574	40847574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40847574C>T	ENST00000264638.4	+	19	3245	c.3028C>T	c.(3028-3030)Cgc>Tgc	p.R1010C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1010					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R1010C(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACCTGGATGCGCTATAACCT	0.582																																					p.R1010C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3028T	17						.						65.0	67.0	66.0					17																	40847574		2203	4300	6503	38101100	SO:0001583	missense	8506	exon19			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3028C>T	17.37:g.40847574C>T	ENSP00000264638:p.Arg1010Cys		38101100	NM_003632		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592927	0.66219	.	.	ENSG00000108797	ENST00000264638	T	0.79845	-1.31	4.86	4.86	0.63082	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000002	D	0.84817	0.5556	L	0.39898	1.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.69654	0.965	D	0.85850	0.1403	10	0.59425	D	0.04	.	15.5399	0.76035	0.0:1.0:0.0:0.0	.	1010	P78357	CNTP1_HUMAN	C	1010	ENSP00000264638:R1010C	ENSP00000264638:R1010C	R	+	1	0	CNTNAP1	38101100	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.599000	0.46231	2.508000	0.84585	0.563000	0.77884	CGC		0.582	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632	
EZH1	2145	broad.mit.edu	37	17	40864381	40864381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40864381G>A	ENST00000428826.2	-	12	1448	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	EZH1_ENST00000592743.1_Nonsense_Mutation_p.R443*|EZH1_ENST00000590783.1_5'Flank|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R403*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.R373*|EZH1_ENST00000435174.1_Nonsense_Mutation_p.R304*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R434*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	443					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.R443*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGGAAGACTCGAAAAAGAGAT	0.522																																					p.R443X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1327T	17						.						139.0	129.0	132.0					17																	40864381		2203	4300	6503	38117907	SO:0001587	stop_gained	2145	exon12				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1327C>T	17.37:g.40864381G>A	ENSP00000404658:p.Arg443*		38117907	NM_001991	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	ENST00000428826.2	37	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	G	38	7.004609	0.97994	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	.	.	.	5.23	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1313	0.65255	0.0:0.0:0.6378:0.3622	.	.	.	.	X	446;443;403;304	.	ENSP00000264646:R446X	R	-	1	2	EZH1	38117907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.574000	0.46016	1.393000	0.46605	0.655000	0.94253	CGA		0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991	
BECN1	8678	broad.mit.edu	37	17	40968062	40968062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:40968062C>A	ENST00000361523.4	-	8	826	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	BECN1_ENST00000438274.3_Nonsense_Mutation_p.E156*|BECN1_ENST00000590099.1_Nonsense_Mutation_p.E232*	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	232					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.E232*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCACTGTATTCTCTCTGATAC	0.473																																					p.E232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G694T	17						.						120.0	104.0	109.0					17																	40968062		2203	4300	6503	38221588	SO:0001587	stop_gained	8678	exon8			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.694G>T	17.37:g.40968062C>A	ENSP00000355231:p.Glu232*		38221588	NM_003766	B2R6N7|O75595|Q9UNA8	Nonsense_Mutation	SNP	ENST00000361523.4	37	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	38	6.637174	0.97726	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	.	.	.	5.94	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.1621	0.86806	0.0:0.8736:0.1264:0.0	.	.	.	.	X	232;156;145	.	ENSP00000355231:E232X	E	-	1	0	BECN1	38221588	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.578000	0.82498	1.505000	0.48720	-0.181000	0.13052	GAA		0.473	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766	
AOC3	8639	broad.mit.edu	37	17	41004494	41004494	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:41004494A>G	ENST00000308423.2	+	1	1294	c.1134A>G	c.(1132-1134)gcA>gcG	p.A378A	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	378					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.A378A(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATTCCCCAGCAGCAATGACGA	0.562																																					p.A378A	NSCLC(3;192 220 10664 11501 16477)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1134G	17						.						84.0	74.0	77.0					17																	41004494		2203	4300	6503	38258020	SO:0001819	synonymous_variant	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1134A>G	17.37:g.41004494A>G			38258020	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	CCDS11444.1																																																																																				0.562	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
AOC3	8639	broad.mit.edu	37	17	41004707	41004707	+	Silent	SNP	G	G	A	rs115107156	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:41004707G>A	ENST00000308423.2	+	1	1507	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	449					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.S449S(2)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATCTCTACTCGCACTACTTTG	0.542													G|||	4	0.000798722	0.003	0.0	5008	,	,		19486	0.0		0.0	False		,,,				2504	0.0				p.S449S	NSCLC(3;192 220 10664 11501 16477)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1347A	17						.	G		11,4395	17.9+/-39.9	0,11,2192	124.0	110.0	114.0		1347	-4.8	0.0	17	dbSNP_132	114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AOC3	NM_003734.2		0,12,6491	AA,AG,GG		0.0116,0.2497,0.0923		449/764	41004707	12,12994	2203	4300	6503	38258233	SO:0001819	synonymous_variant	8639	exon1			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1347G>A	17.37:g.41004707G>A			38258233	NM_003734	B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	ENST00000308423.2	37	CCDS11444.1																																																																																				0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
G6PC	2538	broad.mit.edu	37	17	41063104	41063104	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:41063104C>T	ENST00000253801.2	+	5	814	c.735C>T	c.(733-735)tgC>tgT	p.C245C	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	245					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.C245C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGAGGTGGTGCGAGCAGCCAG	0.567																																					p.C245C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C735T	17	GRCh37	CP952395	G6PC	X		.						94.0	80.0	85.0					17																	41063104		2203	4300	6503	38316630	SO:0001819	synonymous_variant	2538	exon5			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.735C>T	17.37:g.41063104C>T			38316630	NM_000151	A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	37	CCDS11446.1																																																																																				0.567	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
ZZEF1	23140	broad.mit.edu	37	17	3923012	3923012	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3923012C>T	ENST00000381638.2	-	46	7580	c.7456G>A	c.(7456-7458)Gaa>Aaa	p.E2486K		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2486							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E2486K(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCTGCAGTTCGTATATGGCC	0.502																																					p.E2486K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7456A	17						.						126.0	111.0	116.0					17																	3923012		2203	4300	6503	3869761	SO:0001583	missense	23140	exon46			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7456G>A	17.37:g.3923012C>T	ENSP00000371051:p.Glu2486Lys		3869761	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773854	0.96922	.	.	ENSG00000074755	ENST00000381638	T	0.47177	0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.63157	-0.6700	10	0.87932	D	0	-18.8227	19.7617	0.96321	0.0:1.0:0.0:0.0	.	2486	O43149	ZZEF1_HUMAN	K	2486	ENSP00000371051:E2486K	ENSP00000371051:E2486K	E	-	1	0	ZZEF1	3869761	1.000000	0.71417	0.905000	0.35620	0.977000	0.68977	7.290000	0.78711	2.671000	0.90904	0.655000	0.94253	GAA		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
ZZEF1	23140	broad.mit.edu	37	17	3977452	3977452	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3977452G>T	ENST00000381638.2	-	24	3801	c.3677C>A	c.(3676-3678)tCt>tAt	p.S1226Y	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1226							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S1226Y(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACGGCGCACAGACTTGAGCGC	0.587																																					p.S1226Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3677A	17						.						103.0	100.0	101.0					17																	3977452		2203	4300	6503	3924201	SO:0001583	missense	23140	exon24			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3677C>A	17.37:g.3977452G>T	ENSP00000371051:p.Ser1226Tyr		3924201	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495699	0.64186	.	.	ENSG00000074755	ENST00000381638	T	0.25579	1.79	5.87	4.87	0.63330	.	0.105578	0.64402	D	0.000002	T	0.31670	0.0804	L	0.57536	1.79	0.45621	D	0.998554	D	0.53462	0.96	P	0.47376	0.545	T	0.04693	-1.0933	10	0.87932	D	0	-12.973	11.2221	0.48862	0.0:0.1367:0.7214:0.1419	.	1226	O43149	ZZEF1_HUMAN	Y	1226	ENSP00000371051:S1226Y	ENSP00000371051:S1226Y	S	-	2	0	ZZEF1	3924201	1.000000	0.71417	0.957000	0.39632	0.386000	0.30323	8.699000	0.91316	2.780000	0.95670	0.655000	0.94253	TCT		0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
BRCA1	672	broad.mit.edu	37	17	41246189	41246189	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:41246189C>A	ENST00000357654.3	-	10	1477	c.1359G>T	c.(1357-1359)gaG>gaT	p.E453D	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E406D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E453D|BRCA1_ENST00000346315.3_Missense_Mutation_p.E453D|BRCA1_ENST00000309486.4_Missense_Mutation_p.E157D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E453D|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	453					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E453D(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAATATTACTCTCTACTGATT	0.363			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																											p.E453D		yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1359T	17						.						100.0	97.0	98.0					17																	41246189		2203	4300	6503	38499715	SO:0001583	missense	672	exon10	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1359G>T	17.37:g.41246189C>A	ENSP00000350283:p.Glu453Asp		38499715	NM_007294	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.605|8.605	0.887856|0.887856	0.17540|0.17540	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123|ENST00000473961	D;D;D;D;D;D;D;D;D;D|.	0.92348|.	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02|.	4.57|4.57	1.09|1.09	0.20402|0.20402	.|.	0.345070|.	0.25022|.	N|.	0.033749|.	T|T	0.65698|0.65698	0.2716|0.2716	H|H	0.94222|0.94222	3.51|3.51	0.09310|0.09310	N|N	1|1	P;P;P;B;P;P|.	0.48294|.	0.872;0.872;0.549;0.368;0.908;0.833|.	P;P;B;P;P;P|.	0.58391|.	0.5;0.5;0.329;0.474;0.838;0.637|.	T|T	0.58668|0.58668	-0.7596|-0.7596	10|5	0.87932|.	D|.	0|.	-1.1763|-1.1763	4.4836|4.4836	0.11780|0.11780	0.0:0.3491:0.1682:0.4827|0.0:0.3491:0.1682:0.4827	.|.	453;412;453;453;453;453|.	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2|.	.;.;.;.;BRCA1_HUMAN;.|.	D|I	453;453;453;453;157;453;406;453;427;157;453|319	ENSP00000350283:E453D;ENSP00000326002:E453D;ENSP00000246907:E453D;ENSP00000310938:E157D;ENSP00000418960:E453D;ENSP00000418775:E406D;ENSP00000419274:E453D;ENSP00000419988:E427D;ENSP00000418986:E157D;ENSP00000419103:E453D|.	ENSP00000310938:E157D|.	E|R	-|-	3|2	2|0	BRCA1|BRCA1	38499715|38499715	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.012000|0.012000	0.07955|0.07955	-0.063000|-0.063000	0.11655|0.11655	0.133000|0.133000	0.18654|0.18654	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
PPY	5539	broad.mit.edu	37	17	42018852	42018852	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42018852G>T	ENST00000591228.1	-	2	258	c.171C>A	c.(169-171)atC>atA	p.I57I	PPY_ENST00000225992.3_Silent_p.I57I|PPY_ENST00000587006.1_Silent_p.I57I			P01298	PAHO_HUMAN	pancreatic polypeptide	57					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.I57I(1)		large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCAGCATGTTGATGTATCTAC	0.617																																					p.I57I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171A	17						.						150.0	139.0	143.0					17																	42018852		2203	4300	6503	39374378	SO:0001819	synonymous_variant	5539	exon2				CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.171C>A	17.37:g.42018852G>T			39374378	NM_002722		Silent	SNP	ENST00000591228.1	37	CCDS11472.1																																																																																				0.617	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457656.1	NM_002722	
HDAC5	10014	broad.mit.edu	37	17	42156199	42156199	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42156199C>T	ENST00000393622.2	-	25	3458	c.3127G>A	c.(3127-3129)Gca>Aca	p.A1043T	HDAC5_ENST00000586802.1_Missense_Mutation_p.A1043T|HDAC5_ENST00000336057.5_Missense_Mutation_p.A958T|HDAC5_ENST00000225983.6_Missense_Mutation_p.A1044T	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1043					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A1043T(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTGGCCACTGCGTTGATGTTG	0.592																																					p.A1044T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3130A	17						.						167.0	148.0	155.0					17																	42156199		2203	4300	6503	39511725	SO:0001583	missense	10014	exon25			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.3127G>A	17.37:g.42156199C>T	ENSP00000377244:p.Ala1043Thr		39511725	NM_001015053	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480576	0.63849	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.56941	0.43;0.43;0.69	4.88	3.92	0.45320	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	M	0.81614	2.55	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.927;0.999;0.997	T	0.75505	-0.3294	10	0.66056	D	0.02	-8.8397	12.1613	0.54105	0.0:0.9159:0.0:0.0841	.	958;1044;1043	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	T	1044;1043;958	ENSP00000225983:A1044T;ENSP00000377244:A1043T;ENSP00000337290:A958T	ENSP00000225983:A1044T	A	-	1	0	HDAC5	39511725	1.000000	0.71417	0.759000	0.31340	0.070000	0.16714	7.552000	0.82192	1.287000	0.44583	-0.136000	0.14681	GCA		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053	
UBTF	7343	broad.mit.edu	37	17	42288694	42288694	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42288694C>A	ENST00000302904.4	-	11	1545	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	UBTF_ENST00000527034.1_Missense_Mutation_p.K314N|UBTF_ENST00000529383.1_Missense_Mutation_p.K351N|UBTF_ENST00000533177.1_Missense_Mutation_p.K314N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.K314N|UBTF_ENST00000436088.1_Missense_Mutation_p.K351N|UBTF_ENST00000393606.3_Missense_Mutation_p.K314N|UBTF_ENST00000343638.5_Missense_Mutation_p.K314N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	351					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K351N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGTAATCTTTCTTTTTCTGGG	0.577																																					p.K314N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G942T	17						.						70.0	62.0	64.0					17																	42288694		2203	4300	6503	39644220	SO:0001583	missense	7343	exon10			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1053G>T	17.37:g.42288694C>A	ENSP00000302640:p.Lys351Asn		39644220	NM_001076683	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.051183	0.75960	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	4.34	3.36	0.38483	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.70842	2.15	0.48762	D	0.999705	D;P;D	0.89917	1.0;0.589;1.0	D;B;D	0.87578	0.998;0.437;0.997	T	0.39761	-0.9598	10	0.45353	T	0.12	-30.0218	11.7069	0.51601	0.0:0.9064:0.0:0.0936	.	314;314;351	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	314;351;314;314;351;314;314;351	ENSP00000345297:K314N;ENSP00000302640:K351N;ENSP00000431539:K314N;ENSP00000437180:K314N;ENSP00000390669:K351N;ENSP00000377231:K314N;ENSP00000432925:K314N;ENSP00000435708:K351N	ENSP00000302640:K351N	K	-	3	2	UBTF	39644220	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.517000	0.53443	2.408000	0.81797	0.491000	0.48974	AAG		0.577	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
UBTF	7343	broad.mit.edu	37	17	42293103	42293103	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42293103C>T	ENST00000302904.4	-	5	885	c.393G>A	c.(391-393)gcG>gcA	p.A131A	UBTF_ENST00000527034.1_Silent_p.A131A|UBTF_ENST00000529383.1_Silent_p.A131A|UBTF_ENST00000533177.1_Silent_p.A131A|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Silent_p.A131A|UBTF_ENST00000436088.1_Silent_p.A131A|UBTF_ENST00000393606.3_Silent_p.A131A|UBTF_ENST00000343638.5_Silent_p.A131A|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	131					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A131A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGTGGAGTTTCGCATACTTGG	0.507																																					p.A131A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	17						.						108.0	111.0	110.0					17																	42293103		2203	4300	6503	39648629	SO:0001819	synonymous_variant	7343	exon5			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.393G>A	17.37:g.42293103C>T			39648629	NM_001076683	A8K6R8	Silent	SNP	ENST00000302904.4	37	CCDS11480.1																																																																																				0.507	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
ITGA2B	3674	broad.mit.edu	37	17	42462328	42462328	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42462328C>T	ENST00000262407.5	-	7	818	c.787G>A	c.(787-789)Gac>Aac	p.D263N	ITGA2B_ENST00000353281.4_Missense_Mutation_p.D263N|ITGA2B_ENST00000377068.3_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	263					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.D263N(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGTAGCCGTCGAAGTACTCT	0.607																																					p.D263N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	17						.						82.0	93.0	90.0					17																	42462328		2203	4300	6503	39817854	SO:0001583	missense	3674	exon7				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.787G>A	17.37:g.42462328C>T	ENSP00000262407:p.Asp263Asn		39817854	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042786	0.93685	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.71817	-0.6;-0.6	5.47	3.43	0.39272	.	2.946000	0.02429	N	0.083386	T	0.80065	0.4555	M	0.62088	1.915	0.80722	D	1	D	0.67145	0.996	P	0.53006	0.715	T	0.63659	-0.6587	10	0.87932	D	0	.	12.5903	0.56439	0.0:0.6815:0.3185:0.0	.	263	P08514	ITA2B_HUMAN	N	263	ENSP00000262407:D263N;ENSP00000340536:D263N	ENSP00000262407:D263N	D	-	1	0	ITGA2B	39817854	0.254000	0.23992	0.821000	0.32701	0.376000	0.30014	0.971000	0.29396	0.637000	0.30526	-0.416000	0.06073	GAC		0.607	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
C17orf104	284071	broad.mit.edu	37	17	42743947	42743947	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42743947T>G	ENST00000409122.2	+	5	810	c.668T>G	c.(667-669)cTt>cGt	p.L223R	C17orf104_ENST00000409464.1_Missense_Mutation_p.L57R|C17orf104_ENST00000359945.3_Missense_Mutation_p.L223R	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	223								p.L223R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATAGATGAACTTCATCATGGA	0.368																																					p.L223R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T668G	17						.						100.0	87.0	92.0					17																	42743947		2203	4299	6502	40099473	SO:0001583	missense	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.668T>G	17.37:g.42743947T>G	ENSP00000386452:p.Leu223Arg		40099473	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050871	0.36181	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000432494;ENST00000456912;ENST00000409464	T;T;T;T	0.38401	1.19;1.19;1.14;1.28	5.54	5.54	0.83059	.	0.509407	0.19428	N	0.114518	T	0.39655	0.1086	L	0.34521	1.04	0.28445	N	0.916631	D;D;D	0.57571	0.963;0.98;0.963	P;P;P	0.56700	0.735;0.804;0.735	T	0.36311	-0.9753	10	0.66056	D	0.02	-16.3624	7.3468	0.26668	0.0:0.0757:0.1571:0.7672	.	223;223;57	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	R	223;223;57;57;57	ENSP00000353028:L223R;ENSP00000386452:L223R;ENSP00000399809:L57R;ENSP00000386586:L57R	ENSP00000353028:L223R	L	+	2	0	C17orf104	40099473	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.318000	0.43779	2.220000	0.72140	0.482000	0.46254	CTT		0.368	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
C17orf104	284071	broad.mit.edu	37	17	42744952	42744952	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42744952C>T	ENST00000409122.2	+	5	1815	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	C17orf104_ENST00000409464.1_Missense_Mutation_p.S392F|C17orf104_ENST00000359945.3_Missense_Mutation_p.S558F	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	558								p.S558F(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGAATCCAATCTGTCAATCAC	0.333																																					p.S558F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1673T	17						.						32.0	34.0	34.0					17																	42744952		2195	4299	6494	40100478	SO:0001583	missense	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1673C>T	17.37:g.42744952C>T	ENSP00000386452:p.Ser558Phe		40100478	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563125	0.45694	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.36157	1.27;1.27;1.29	5.66	5.66	0.87406	.	0.548825	0.19270	N	0.118457	T	0.46347	0.1388	L	0.34521	1.04	0.35458	D	0.796273	D;D;D	0.60575	0.988;0.986;0.974	P;P;P	0.57152	0.804;0.814;0.748	T	0.54569	-0.8274	10	0.59425	D	0.04	-14.3048	17.913	0.88940	0.0:1.0:0.0:0.0	.	558;558;392	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	F	558;558;392	ENSP00000353028:S558F;ENSP00000386452:S558F;ENSP00000386586:S392F	ENSP00000353028:S558F	S	+	2	0	C17orf104	40100478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.038000	0.64177	2.663000	0.90544	0.655000	0.94253	TCT		0.333	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
EFTUD2	9343	broad.mit.edu	37	17	42929857	42929857	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42929857C>T	ENST00000426333.2	-	26	2932	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	EFTUD2_ENST00000592576.1_Missense_Mutation_p.D869N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D844N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D879N	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	879					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D879N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAAAAGAGTCGATGGCCGGG	0.542																																					p.D879N	Ovarian(10;65 485 10258 29980 30707)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2635A	17						.						97.0	84.0	88.0					17																	42929857		2203	4300	6503	40285383	SO:0001583	missense	9343	exon26			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2635G>A	17.37:g.42929857C>T	ENSP00000392094:p.Asp879Asn		40285383	NM_004247	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	36	5.745690	0.96882	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.62788	-0.0;-0.0	6.06	6.06	0.98353	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.82063	-0.0643	10	0.87932	D	0	-29.4381	20.2194	0.98323	0.0:1.0:0.0:0.0	.	869;879	B4DMC0;Q15029	.;U5S1_HUMAN	N	879;869;844	ENSP00000392094:D879N;ENSP00000385873:D844N	ENSP00000262414:D869N	D	-	1	0	EFTUD2	40285383	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.794000	0.85869	2.879000	0.98667	0.650000	0.86243	GAC		0.542	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
CCDC103	388389	broad.mit.edu	37	17	42979014	42979014	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42979014C>A	ENST00000417826.2	+	3	365	c.270C>A	c.(268-270)atC>atA	p.I90I	CCDC103_ENST00000410006.2_Silent_p.I90I|CCDC103_ENST00000410027.1_Silent_p.I90I|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000592576.1_5'Flank|EFTUD2_ENST00000426333.2_5'Flank|FAM187A_ENST00000412523.2_Intron|EFTUD2_ENST00000402521.3_5'Flank|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000591382.1_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	90					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.I90I(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CCACTGAAATCTCCCCGGTAG	0.478																																					p.I90I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270A	17						.						99.0	84.0	89.0					17																	42979014		2203	4300	6503	40334540	SO:0001819	synonymous_variant	388389	exon3			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.270C>A	17.37:g.42979014C>A			40334540	NM_213607	A8K145|B8ZZU0	Silent	SNP	ENST00000417826.2	37	CCDS11490.1																																																																																				0.478	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607	
ANKFY1	51479	broad.mit.edu	37	17	4088314	4088314	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4088314G>A	ENST00000341657.4	-	12	1533	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.R500W|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.R542W	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	500					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R500W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGGCCATGCCGACACGCTGTG	0.582																																					p.R500W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1498T	17						.						40.0	45.0	44.0					17																	4088314		2131	4252	6383	4035063	SO:0001583	missense	51479	exon12			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1498C>T	17.37:g.4088314G>A	ENSP00000343362:p.Arg500Trp		4035063	NM_016376	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	G	26.0	4.694601	0.88830	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.67345	-0.26	5.86	4.88	0.63580	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69142	0.95;0.962;0.957;0.941	T	0.74604	-0.3610	10	0.62326	D	0.03	-24.8339	13.8192	0.63309	0.0:0.0:0.7073:0.2927	.	441;500;500;542	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	W	500;441	ENSP00000343362:R500W	ENSP00000343362:R500W	R	-	1	2	ANKFY1	4035063	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.735000	0.62051	1.452000	0.47756	0.655000	0.94253	CGG		0.582	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
GFAP	2670	broad.mit.edu	37	17	42990657	42990657	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:42990657C>T	ENST00000253408.5	-	4	825	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.E254K|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000586793.1_Missense_Mutation_p.E254K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	254	Linker 2.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.E254K(3)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TACCACTCTTCGGCTTCATGC	0.607																																					p.E254K												.	.	3	Substitution - Missense(3)	kidney(2)|large_intestine(1)	c.G760A	17						.						154.0	128.0	137.0					17																	42990657		2203	4300	6503	40346183	SO:0001583	missense	2670	exon4			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.760G>A	17.37:g.42990657C>T	ENSP00000253408:p.Glu254Lys		40346183	NM_001131019	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283867	0.80803	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.93763	-3.28;-3.28	5.08	5.08	0.68730	Filament (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.954	D	0.97337	0.9954	10	0.87932	D	0	.	18.6455	0.91409	0.0:1.0:0.0:0.0	.	254;254	E9PAX3;P14136	.;GFAP_HUMAN	K	254;229;254	ENSP00000253408:E254K;ENSP00000403962:E254K	ENSP00000253408:E254K	E	-	1	0	GFAP	40346183	1.000000	0.71417	0.911000	0.35937	0.102000	0.19082	5.937000	0.70162	2.826000	0.97356	0.655000	0.94253	GAA		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055	
HEXIM2	124790	broad.mit.edu	37	17	43246603	43246603	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:43246603G>A	ENST00000307275.3	+	4	724	c.288G>A	c.(286-288)tcG>tcA	p.S96S	HEXIM2_ENST00000591576.1_Silent_p.S96S|RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.S96S	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	96					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.S96S(1)		endometrium(1)|large_intestine(3)|lung(1)	5						GGCGGCCATCGAAGCGCAAAA	0.672																																					p.S96S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G288A	17						.						30.0	34.0	33.0					17																	43246603		2203	4300	6503	40602386	SO:0001819	synonymous_variant	124790	exon4			AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.288G>A	17.37:g.43246603G>A			40602386	NM_144608	D3DX66	Silent	SNP	ENST00000307275.3	37	CCDS11496.1																																																																																				0.672	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608	
FMNL1	752	broad.mit.edu	37	17	43315997	43315997	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:43315997G>A	ENST00000331495.3	+	10	1297	c.961G>A	c.(961-963)Gac>Aac	p.D321N	CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_5'Flank|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.D321N	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	321	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.D321N(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CAGCAACATCGACTTCATGGT	0.602																																					p.D321N	GBM(164;1247 1997 8702 11086 51972)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G961A	17						.						82.0	78.0	79.0					17																	43315997		2203	4300	6503	40671780	SO:0001583	missense	752	exon10			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.961G>A	17.37:g.43315997G>A	ENSP00000329219:p.Asp321Asn		40671780	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133763	0.77662	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	D;D	0.83914	-1.78;-1.78	4.04	4.04	0.47022	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.103621	0.64402	D	0.000006	D	0.87212	0.6121	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84949	0.0870	10	0.26408	T	0.33	.	15.7259	0.77761	0.0:0.0:1.0:0.0	.	321	O95466	FMNL_HUMAN	N	321;321;39	ENSP00000327442:D321N;ENSP00000329219:D321N	ENSP00000327442:D321N	D	+	1	0	FMNL1	40671780	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.619000	0.98369	2.243000	0.73865	0.400000	0.26472	GAC		0.602	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
ANKFY1	51479	broad.mit.edu	37	17	4139184	4139184	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4139184C>T	ENST00000341657.4	-	3	240	c.205G>A	c.(205-207)Gat>Aat	p.D69N	ANKFY1_ENST00000574367.1_Splice_Site_p.D69N|ANKFY1_ENST00000433651.1_Splice_Site_p.D69N|ANKFY1_ENST00000570535.1_Splice_Site_p.D111N	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.D69N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATCTTCAGATCGCTGATGAAG	0.418																																					p.D69N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G205A	17						.						116.0	113.0	114.0					17																	4139184		1887	4111	5998	4085933	SO:0001630	splice_region_variant	51479	exon3			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.204-1G>A	17.37:g.4139184C>T			4085933	NM_020740	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.018104	0.93404	.	.	ENSG00000185722	ENST00000341657;ENST00000433651	T;T	0.69175	-0.38;-0.38	5.19	5.19	0.71726	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88254	0.6387	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.997;0.997	D	0.92164	0.5738	10	0.72032	D	0.01	-22.1226	17.7846	0.88533	0.0:1.0:0.0:0.0	.	69;69;69;69;111	B4DZ21;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	N	69	ENSP00000343362:D69N;ENSP00000416005:D69N	ENSP00000343362:D69N	D	-	1	0	ANKFY1	4085933	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	5.857000	0.69525	2.431000	0.82371	0.558000	0.71614	GAT		0.418	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	Missense_Mutation
ARHGAP27	201176	broad.mit.edu	37	17	43481984	43481984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:43481984G>A	ENST00000428638.1	-	4	1311	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ARHGAP27_ENST00000376922.2_Nonsense_Mutation_p.R97*|ARHGAP27_ENST00000532038.1_Nonsense_Mutation_p.R238*|ARHGAP27_ENST00000455881.1_Nonsense_Mutation_p.R97*|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532891.2_Nonsense_Mutation_p.R438*|ARHGAP27_ENST00000528384.1_Intron|ARHGAP27_ENST00000442348.1_Intron			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	438	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)	p.R97*(1)		endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AGCTCCCATCGAACAGAGGAG	0.597																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	17						.						44.0	45.0	45.0					17																	43481984		2203	4300	6503	40837767	SO:0001587	stop_gained	201176	exon4			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1312C>T	17.37:g.43481984G>A	ENSP00000403323:p.Arg438*		40837767	NM_199282	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Nonsense_Mutation	SNP	ENST00000428638.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.250219	0.95305	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000532891;ENST00000428638;ENST00000455881;ENST00000528677	.	.	.	5.76	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	9.0714	0.36495	0.0774:0.0:0.7754:0.1472	.	.	.	.	X	238;97;438;438;97;181	.	ENSP00000366121:R97X	R	-	1	2	ARHGAP27	40837767	0.015000	0.18098	0.010000	0.14722	0.734000	0.41952	1.594000	0.36697	0.773000	0.33404	-0.229000	0.12294	CGA		0.597	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282	
CRHR1	1394	broad.mit.edu	37	17	43884432	43884432	+	Silent	SNP	C	C	T	rs543785844		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:43884432C>T	ENST00000398285.3	+	2	90	c.90C>T	c.(88-90)tgC>tgT	p.C30C	CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000577353.1_Silent_p.C30C|CRHR1_ENST00000314537.5_Silent_p.C30C|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Silent_p.C30C|RP11-105N13.4_ENST00000587305.1_RNA	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	30					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.C30C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCAGCACTGCGAGAGCCTGT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18731	0.001		0.0	False		,,,				2504	0.0				p.C30C	Ovarian(110;57 1568 10207 38216 49865)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	17						.						58.0	64.0	62.0					17																	43884432		2075	4196	6271	41240212	SO:0001819	synonymous_variant	1394	exon2			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.90C>T	17.37:g.43884432C>T			41240212	NM_001145147	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	CCDS45712.1																																																																																				0.622	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3		
CRHR1	1394	broad.mit.edu	37	17	43912093	43912093	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:43912093T>C	ENST00000398285.3	+	14	1298	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	CRHR1_ENST00000314537.5_Missense_Mutation_p.V404A|CRHR1_ENST00000339069.5_Missense_Mutation_p.S258P|CRHR1_ENST00000577353.1_Missense_Mutation_p.V390A|CRHR1_ENST00000352855.5_Missense_Mutation_p.V364A|CRHR1_ENST00000293493.7_Missense_Mutation_p.V229A	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	433					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.V404A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCAACCCGTGTCAGCTTTCAC	0.642																																					p.V364A	Ovarian(110;57 1568 10207 38216 49865)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1091C	17						.						68.0	81.0	77.0					17																	43912093		2191	4292	6483	41267874	SO:0001583	missense	1394	exon12			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1298T>C	17.37:g.43912093T>C	ENSP00000381333:p.Val433Ala		41267874	NM_001145147	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.945456|3.945456	0.73672|0.73672	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000339069|ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T|T;T;T;T	0.48836|0.45668	0.8|1.52;1.06;0.89;1.06	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.237278	.|0.42420	.|D	.|0.000708	T|T	0.33933|0.33933	0.0880|0.0880	N|N	0.21373|0.21373	0.66|0.66	0.54753|0.54753	D|D	0.999981|0.999981	D|P;P;B;P;P	0.61080|0.45474	0.989|0.68;0.859;0.271;0.68;0.68	P|P;P;B;B;P	0.50314|0.45660	0.637|0.458;0.489;0.066;0.356;0.458	T|T	0.06303|0.06303	-1.0834|-1.0834	9|10	0.87932|0.24483	D|T	0|0.36	.|.	13.1022|13.1022	0.59226|0.59226	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	258|390;433;303;364;404	B4DMR5|P34998-4;P34998;B3TIK8;P34998-3;P34998-2	.|.;CRFR1_HUMAN;.;.;.	P|A	258|229;433;404;390;364	ENSP00000340522:S258P|ENSP00000293493:V229A;ENSP00000381333:V433A;ENSP00000326060:V404A;ENSP00000344068:V364A	ENSP00000340522:S258P|ENSP00000293493:V229A	S|V	+|+	1|2	0|0	CRHR1|CRHR1	41267874|41267874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.019000|8.019000	0.88732|0.88732	1.985000|1.985000	0.57927|0.57927	0.454000|0.454000	0.30748|0.30748	TCA|GTC		0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3		
MAPT	4137	broad.mit.edu	37	17	44049280	44049280	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:44049280C>A	ENST00000571987.1	+	2	189	c.189C>A	c.(187-189)acC>acA	p.T63T	MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000420682.2_Silent_p.T63T|MAPT_ENST00000415613.2_Silent_p.T63T|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Silent_p.T63T|MAPT_ENST00000344290.5_Silent_p.T63T|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Silent_p.T63T|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Silent_p.T63T|MAPT_ENST00000262410.5_Silent_p.T63T|MAPT_ENST00000431008.3_Silent_p.T63T|MAPT_ENST00000535772.1_Silent_p.T63T|MAPT_ENST00000347967.5_5'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	63					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.T63T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTCTGAAACCTCTGATGCTA	0.617																																					p.T63T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189A	17						.						71.0	63.0	66.0					17																	44049280		2203	4300	6503	41405116	SO:0001819	synonymous_variant	4137	exon3			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.189C>A	17.37:g.44049280C>A			41405116	NM_001123067	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	CCDS11501.1																																																																																				0.617	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
MAPT	4137	broad.mit.edu	37	17	44064408	44064408	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:44064408C>T	ENST00000571987.1	+	6	1129	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	MAPT_ENST00000576518.1_Missense_Mutation_p.R57C|MAPT_ENST00000420682.2_Missense_Mutation_p.R97C|MAPT_ENST00000415613.2_Missense_Mutation_p.R377C|MAPT_ENST00000446361.3_Missense_Mutation_p.R68C|MAPT_ENST00000574436.1_Missense_Mutation_p.R126C|MAPT_ENST00000344290.5_Missense_Mutation_p.R377C|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Missense_Mutation_p.R97C|MAPT_ENST00000334239.8_Missense_Mutation_p.R68C|MAPT_ENST00000351559.5_Missense_Mutation_p.R126C|MAPT_ENST00000262410.5_Missense_Mutation_p.R377C|MAPT_ENST00000431008.3_Missense_Mutation_p.R126C|MAPT_ENST00000535772.1_Missense_Mutation_p.R126C|MAPT_ENST00000347967.5_Missense_Mutation_p.R32C			P10636	TAU_HUMAN	microtubule-associated protein tau	377					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.R377C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TTTATCAGCTCGCATGGTCAG	0.453																																					p.R68C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	17						.						88.0	89.0	89.0					17																	44064408		2203	4300	6503	41420245	SO:0001583	missense	4137	exon4			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1129C>T	17.37:g.44064408C>T	ENSP00000458742:p.Arg377Cys		41420245	NM_016834	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.794454	0.90453	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613	T;T;T;T;T;T;T;T;T;T	0.32753	1.48;1.48;2.19;1.44;2.44;2.19;2.2;2.46;1.44;1.48	5.58	5.58	0.84498	.	0.000000	0.44483	D	0.000447	T	0.53012	0.1770	L	0.56769	1.78	0.31212	N	0.698512	D;D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.994;0.989;0.996;1.0	P;P;D;P;P;D;P	0.85130	0.736;0.711;0.997;0.711;0.711;0.924;0.759	T	0.56202	-0.8018	10	0.62326	D	0.03	-10.0913	16.6747	0.85275	0.0:1.0:0.0:0.0	.	377;97;75;68;68;126;377	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	C	377;377;126;97;126;32;75;68;68;97;377	ENSP00000340820:R377C;ENSP00000262410:R377C;ENSP00000303214:R126C;ENSP00000340438:R97C;ENSP00000443028:R126C;ENSP00000302706:R32C;ENSP00000408975:R68C;ENSP00000334886:R68C;ENSP00000413056:R97C;ENSP00000410838:R377C	ENSP00000262410:R377C	R	+	1	0	MAPT	41420245	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.531000	0.60602	2.797000	0.96272	0.561000	0.74099	CGC		0.453	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
MAPT	4137	broad.mit.edu	37	17	44067363	44067363	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:44067363G>A	ENST00000571987.1	+	7	1302	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.E434E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000344290.5_Silent_p.E434E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000262410.5_Silent_p.E434E|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	434					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.E434E(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TGTGCCCAGAGCCACCTTCCT	0.507																																					p.E434E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1302A	17						.						193.0	195.0	194.0					17																	44067363		2203	4300	6503	41423200	SO:0001819	synonymous_variant	4137	exon8			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1302G>A	17.37:g.44067363G>A			41423200	NM_016835	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	CCDS11501.1																																																																																				0.507	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
KANSL1	284058	broad.mit.edu	37	17	44115905	44115905	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:44115905G>A	ENST00000262419.6	-	10	3010	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000393476.3_Splice_Site_p.S141L|KANSL1_ENST00000575318.1_Splice_Site_p.S784L|KANSL1_ENST00000432791.1_Splice_Site_p.S847L|KANSL1_ENST00000572904.1_Splice_Site_p.S847L|KANSL1_ENST00000574590.1_Splice_Site_p.S847L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	847					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S847L(1)									GGTACTTACCGATGTGCTGGC	0.597																																					p.S847L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2540T	17						.						82.0	74.0	77.0					17																	44115905		2203	4300	6503	41471752	SO:0001630	splice_region_variant	284058	exon10			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2541+1C>T	17.37:g.44115905G>A			41471752	NM_015443	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037030	0.54896	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.24723	2.67;2.67;1.84	6.03	6.03	0.97812	.	0.231874	0.46145	D	0.000304	T	0.23926	0.0579	L	0.43152	1.355	0.44247	D	0.997094	B;B;P;P	0.46327	0.229;0.104;0.876;0.876	B;B;B;B	0.37091	0.077;0.053;0.241;0.241	T	0.01532	-1.1331	10	0.49607	T	0.09	-7.8817	17.2897	0.87152	0.0:0.0:1.0:0.0	.	115;178;847;847	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	847;847;141	ENSP00000262419:S847L;ENSP00000387393:S847L;ENSP00000377117:S141L	ENSP00000262419:S847L	S	-	2	0	KIAA1267	41471752	1.000000	0.71417	0.993000	0.49108	0.331000	0.28603	5.873000	0.69644	2.861000	0.98227	0.655000	0.94253	TCG		0.597	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	Missense_Mutation
WNT9B	7484	broad.mit.edu	37	17	44953981	44953981	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:44953981G>A	ENST00000290015.2	+	4	1024	c.971G>A	c.(970-972)aGc>aAc	p.S324N	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	324					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.S324N(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GACACCCAGAGCCGCCTGGTG	0.652																																					p.S324N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	17						.						30.0	32.0	31.0					17																	44953981		2203	4300	6503	42308980	SO:0001583	missense	7484	exon4			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.971G>A	17.37:g.44953981G>A	ENSP00000290015:p.Ser324Asn		42308980	NM_003396	Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765218	0.49574	.	.	ENSG00000158955	ENST00000376843;ENST00000290015	T	0.75938	-0.98	5.39	3.28	0.37604	.	0.288709	0.42821	N	0.000645	T	0.59972	0.2233	L	0.41824	1.3	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.52697	-0.8541	10	0.26408	T	0.33	.	5.3307	0.15930	0.0749:0.2469:0.5465:0.1317	.	324	O14905	WNT9B_HUMAN	N	318;324	ENSP00000290015:S324N	ENSP00000290015:S324N	S	+	2	0	WNT9B	42308980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.434000	0.44802	1.274000	0.44362	0.561000	0.74099	AGC		0.652	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396	
GOSR2	9570	broad.mit.edu	37	17	45008526	45008526	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45008526G>T	ENST00000393456.2	+	3	213	c.156G>T	c.(154-156)gaG>gaT	p.E52D	GOSR2_ENST00000439730.2_Missense_Mutation_p.E52D|GOSR2_ENST00000225567.4_Missense_Mutation_p.E52D|GOSR2_ENST00000415811.2_Missense_Mutation_p.E52D|GOSR2_ENST00000575949.1_Missense_Mutation_p.E52D|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.E52D|GOSR2_ENST00000576910.2_Missense_Mutation_p.E52D	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	52					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.E52D(2)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			AACGTCTGGAGATTTTGTCCA	0.443																																					p.E52D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G156T	17						.						73.0	77.0	76.0					17																	45008526		2203	4300	6503	42363525	SO:0001583	missense	9570	exon3			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.156G>T	17.37:g.45008526G>T	ENSP00000377101:p.Glu52Asp		42363525	NM_001012511	D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496819	0.12762	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.43688	0.94;0.94;0.94;1.89	5.87	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	N	0.04880	-0.145	0.58432	D	0.999991	B;B;B;B	0.18166	0.007;0.023;0.013;0.026	B;B;B;B	0.22386	0.013;0.009;0.029;0.039	T	0.13335	-1.0513	10	0.02654	T	1	-32.7259	7.2494	0.26140	0.2783:0.0:0.7217:0.0	.	52;52;52;52	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	D	52	ENSP00000225567:E52D;ENSP00000377101:E52D;ENSP00000394559:E52D;ENSP00000390577:E52D	ENSP00000225567:E52D	E	+	3	2	GOSR2	42363525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.686000	0.61700	1.627000	0.50400	0.655000	0.94253	GAG		0.443	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1		
CDC27	996	broad.mit.edu	37	17	45201281	45201281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45201281C>A	ENST00000066544.3	-	17	2299	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.E675*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.E735*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.E742*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.E736*(2)|p.E742*(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACGAGGGATTCTTTGGGAACA	0.318																																					p.E742X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G2224T	17						.						61.0	63.0	62.0					17																	45201281		2203	4300	6503	42556280	SO:0001587	stop_gained	996	exon17			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2206G>T	17.37:g.45201281C>A	ENSP00000066544:p.Glu736*		42556280	NM_001114091	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	41	9.133443	0.99077	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	2.1357	16.524	0.84326	0.0:1.0:0.0:0.0	.	.	.	.	X	736;742;675;735	.	ENSP00000066544:E736X	E	-	1	0	CDC27	42556280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.497000	0.84241	0.557000	0.71058	GAA		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	broad.mit.edu	37	17	45206868	45206868	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45206868T>G	ENST00000066544.3	-	16	2144	c.2051A>C	c.(2050-2052)aAa>aCa	p.K684T	CDC27_ENST00000446365.2_Missense_Mutation_p.K623T|CDC27_ENST00000527547.1_Missense_Mutation_p.K683T|CDC27_ENST00000531206.1_Missense_Mutation_p.K690T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.K684T(1)|p.K690T(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTTCTCTGATTTTTTCAGTGC	0.368																																					p.K690T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2069C	17						.						86.0	87.0	87.0					17																	45206868		2203	4300	6503	42561867	SO:0001583	missense	996	exon16			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2051A>C	17.37:g.45206868T>G	ENSP00000066544:p.Lys684Thr		42561867	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914925	0.72983	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79784	0.993;0.973;0.989;0.99	D	0.84581	0.0661	10	0.87932	D	0	-1.0996	13.8853	0.63704	0.0:0.0:0.0:1.0	.	623;683;690;684	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	T	684;690;623;683	ENSP00000066544:K684T;ENSP00000434614:K690T;ENSP00000392802:K623T;ENSP00000437339:K683T	ENSP00000066544:K684T	K	-	2	0	CDC27	42561867	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	8.032000	0.88838	2.156000	0.67533	0.460000	0.39030	AAA		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	broad.mit.edu	37	17	45214664	45214664	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45214664G>T	ENST00000066544.3	-	14	1860	c.1767C>A	c.(1765-1767)ttC>ttA	p.F589L	CDC27_ENST00000446365.2_Missense_Mutation_p.F528L|CDC27_ENST00000527547.1_Missense_Mutation_p.F588L|CDC27_ENST00000531206.1_Missense_Mutation_p.F595L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	589					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.F595L(1)|p.F589L(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTCTCTGGAAGAATTTAATTG	0.378																																					p.F595L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1785A	17						.						58.0	61.0	60.0					17																	45214664		2203	4300	6503	42569663	SO:0001583	missense	996	exon14			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1767C>A	17.37:g.45214664G>T	ENSP00000066544:p.Phe589Leu		42569663	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104404	0.94245	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.62788	1.32;1.32;-0.0;1.32	5.6	3.55	0.40652	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.77557	0.99;0.99;0.99;0.986	T	0.73404	-0.3993	10	0.22109	T	0.4	-21.6483	8.5484	0.33435	0.1966:0.0:0.8034:0.0	.	528;588;595;589	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	L	589;595;528;588	ENSP00000066544:F589L;ENSP00000434614:F595L;ENSP00000392802:F528L;ENSP00000437339:F588L	ENSP00000066544:F589L	F	-	3	2	CDC27	42569663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.738000	0.74822	1.296000	0.44742	0.585000	0.79938	TTC		0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ITGB3	3690	broad.mit.edu	37	17	45360758	45360758	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45360758G>T	ENST00000559488.1	+	3	220	c.204G>T	c.(202-204)gaG>gaT	p.E68D	ITGB3_ENST00000560629.1_Nonsense_Mutation_p.E57*|ITGB3_ENST00000571680.1_Missense_Mutation_p.E68D|ITGB3_ENST00000435993.2_Missense_Mutation_p.E21D	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	68					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.E68D(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	ACCTGAAGGAGAATCTGCTGA	0.572																																					p.E68D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G204T	17						.						88.0	79.0	82.0					17																	45360758		2203	4300	6503	42715757	SO:0001583	missense	3690	exon3				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.204G>T	17.37:g.45360758G>T	ENSP00000452786:p.Glu68Asp		42715757	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567717	0.45798	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92911	-3.13	5.88	1.54	0.23209	Integrin beta subunit, N-terminal (2);	0.485095	0.23180	N	0.051036	D	0.83110	0.5183	L	0.33093	0.98	0.22926	N	0.998551	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.69277	-0.5187	10	0.39692	T	0.17	.	1.9112	0.03287	0.1533:0.1367:0.4285:0.2814	.	68;68	P05106;Q2YFE1	ITB3_HUMAN;.	D	68;21	ENSP00000407801:E21D	ENSP00000262017:E68D	E	+	3	2	C17orf57	42715757	0.078000	0.21339	0.998000	0.56505	0.997000	0.91878	0.186000	0.16978	0.078000	0.16900	0.655000	0.94253	GAG		0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
EFCAB13	124989	broad.mit.edu	37	17	45425209	45425209	+	Nonsense_Mutation	SNP	C	C	T	rs201299500	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45425209C>T	ENST00000331493.2	+	9	964	c.553C>T	c.(553-555)Cga>Tga	p.R185*	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	185						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R185*(1)									TAGTAAAATTCGAAGTGGTAA	0.323													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17103	0.0		0.0	False		,,,				2504	0.0				p.R185X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C553T	17						.	C	,stop/ARG	4,4398	8.1+/-20.4	0,4,2197	71.0	70.0	70.0		,553	2.5	0.8	17		70	0,8588		0,0,4294	yes	intron,stop-gained	C17orf57	NM_001195192.1,NM_152347.4	,	0,4,6491	TT,TC,CC		0.0,0.0909,0.0308	,	,185/974	45425209	4,12986	2201	4294	6495	42780208	SO:0001587	stop_gained	124989	exon9			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.553C>T	17.37:g.45425209C>T	ENSP00000332111:p.Arg185*		42780208	NM_152347	G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.388548	0.98252	9.09E-4	0.0	ENSG00000178852	ENST00000331493	.	.	.	4.57	2.55	0.30701	.	0.364949	0.15838	N	0.242166	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4187	5.6423	0.17571	0.1936:0.7034:0.0:0.103	.	.	.	.	X	185	.	ENSP00000332111:R185X	R	+	1	2	C17orf57	42780208	0.912000	0.30974	0.776000	0.31678	0.994000	0.84299	2.057000	0.41365	0.358000	0.24211	0.650000	0.86243	CGA		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
NPEPPS	9520	broad.mit.edu	37	17	45660192	45660192	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45660192G>A	ENST00000322157.4	+	5	862	c.625G>A	c.(625-627)Gac>Aac	p.D209N	NPEPPS_ENST00000530173.1_Missense_Mutation_p.D205N|NPEPPS_ENST00000544660.1_Intron|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	209					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D209N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGTTCCTAAAGACAGAGTAGC	0.348																																					p.D209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	17						.						10.0	8.0	8.0					17																	45660192		1748	3953	5701	43015191	SO:0001583	missense	9520	exon5			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.625G>A	17.37:g.45660192G>A	ENSP00000320324:p.Asp209Asn		43015191	NM_006310	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205632	0.79127	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000539572	T;T;T	0.04502	3.61;3.61;3.61	5.66	5.66	0.87406	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.045285	0.85682	D	0.000000	T	0.05593	0.0147	N	0.25485	0.75	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.18871	0.023;0.023	T	0.49322	-0.8952	10	0.21014	T	0.42	.	19.7302	0.96179	0.0:0.0:1.0:0.0	.	205;209	E9PLK3;P55786	.;PSA_HUMAN	N	196;205;209;196	ENSP00000437019:D196N;ENSP00000433287:D205N;ENSP00000320324:D209N	ENSP00000320324:D209N	D	+	1	0	NPEPPS	43015191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.669000	0.90835	0.585000	0.79938	GAC		0.348	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310	
TBX21	30009	broad.mit.edu	37	17	45822325	45822325	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45822325G>T	ENST00000177694.1	+	6	1412	c.1201G>T	c.(1201-1203)Gca>Tca	p.A401S		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	401					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A401S(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAGTTTCGAGCAGTCAGCAT	0.647																																					p.A401S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1201T	17						.						52.0	52.0	52.0					17																	45822325		2203	4300	6503	43177324	SO:0001583	missense	30009	exon6			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1201G>T	17.37:g.45822325G>T	ENSP00000177694:p.Ala401Ser		43177324	NM_013351		Missense_Mutation	SNP	ENST00000177694.1	37	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.205108	0.01568	.	.	ENSG00000073861	ENST00000177694	D	0.84146	-1.81	5.2	2.83	0.33086	.	0.660669	0.15314	N	0.268881	T	0.71508	0.3348	L	0.33245	0.995	0.09310	N	1	B	0.22800	0.075	B	0.16289	0.015	T	0.54483	-0.8287	10	0.02654	T	1	.	8.3109	0.32071	0.2106:0.0:0.7894:0.0	.	401	Q9UL17	TBX21_HUMAN	S	401	ENSP00000177694:A401S	ENSP00000177694:A401S	A	+	1	0	TBX21	43177324	0.342000	0.24809	0.411000	0.26484	0.681000	0.39784	1.580000	0.36547	1.173000	0.42796	0.655000	0.94253	GCA		0.647	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351	
OSBPL7	114881	broad.mit.edu	37	17	45891086	45891086	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:45891086T>G	ENST00000007414.3	-	15	1657	c.1466A>C	c.(1465-1467)aAa>aCa	p.K489T	OSBPL7_ENST00000392507.3_Missense_Mutation_p.K489T	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	489					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.K489T(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGACAGGTCTTTGCCGATGTT	0.657																																					p.K489T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1466C	17						.						67.0	62.0	64.0					17																	45891086		2203	4300	6503	43246085	SO:0001583	missense	114881	exon15			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.1466A>C	17.37:g.45891086T>G	ENSP00000007414:p.Lys489Thr		43246085	NM_145798	D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699865	0.88924	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.36699	1.24;1.24	4.82	4.82	0.62117	.	0.053128	0.64402	D	0.000001	T	0.68513	0.3009	M	0.93283	3.4	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77803	-0.2451	10	0.87932	D	0	-17.1426	13.3618	0.60661	0.0:0.0:0.0:1.0	.	489	Q9BZF2	OSBL7_HUMAN	T	489	ENSP00000007414:K489T;ENSP00000376295:K489T	ENSP00000007414:K489T	K	-	2	0	OSBPL7	43246085	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.884000	0.87274	1.777000	0.52277	0.383000	0.25322	AAA		0.657	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731	
CDK5RAP3	80279	broad.mit.edu	37	17	46052898	46052898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46052898G>T	ENST00000338399.4	+	7	638	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	CDK5RAP3_ENST00000536708.2_Nonsense_Mutation_p.E203*|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	178					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.E178*(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGTCCGAGGAGAACTGCTGGC	0.562																																					p.E178X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G532T	17						.						63.0	68.0	66.0					17																	46052898		2084	4233	6317	43407897	SO:0001587	stop_gained	80279	exon7			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.532G>T	17.37:g.46052898G>T	ENSP00000344683:p.Glu178*		43407897	NM_176096	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Nonsense_Mutation	SNP	ENST00000338399.4	37	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749816	0.96890	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.1652	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	X	203;178	.	ENSP00000344683:E178X	E	+	1	0	CDK5RAP3	43407897	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.930000	0.92872	2.547000	0.85894	0.655000	0.94253	GAA		0.562	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	
SNX11	29916	broad.mit.edu	37	17	46196102	46196102	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46196102C>T	ENST00000393405.2	+	6	621	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SNX11_ENST00000359238.2_Silent_p.F89F|SNX11_ENST00000580219.1_Silent_p.F81F|SNX11_ENST00000582104.1_Silent_p.F81F|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000439357.2_Silent_p.F28F	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	89	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)	p.F89F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CAACCTTCTTCGGCACCTCAG	0.507																																					p.F89F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	17						.						90.0	82.0	85.0					17																	46196102		2203	4300	6503	43551101	SO:0001819	synonymous_variant	29916	exon5			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.267C>T	17.37:g.46196102C>T			43551101	NM_013323	B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Silent	SNP	ENST00000393405.2	37	CCDS11526.1																																																																																				0.507	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1		
SNX11	29916	broad.mit.edu	37	17	46198699	46198699	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46198699G>T	ENST00000393405.2	+	8	996	c.642G>T	c.(640-642)gaG>gaT	p.E214D	SNX11_ENST00000359238.2_Missense_Mutation_p.E214D|SNX11_ENST00000580219.1_Missense_Mutation_p.E206D|SNX11_ENST00000582104.1_Missense_Mutation_p.E206D|SNX11_ENST00000452859.2_Missense_Mutation_p.E70D|SNX11_ENST00000439357.2_Missense_Mutation_p.E153D	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	214					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)	p.E214D(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TTGACTCTGAGGTTCCTTCCT	0.522																																					p.E214D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G642T	17						.						157.0	144.0	148.0					17																	46198699		2203	4300	6503	43553698	SO:0001583	missense	29916	exon7			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.642G>T	17.37:g.46198699G>T	ENSP00000377059:p.Glu214Asp		43553698	NM_013323	B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	ENST00000393405.2	37	CCDS11526.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194856	0.58017	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.66099	-0.19;-0.19	6.16	2.95	0.34219	.	0.450333	0.22920	N	0.054021	T	0.48277	0.1491	L	0.44542	1.39	0.31401	N	0.676688	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.45702	-0.9243	10	0.34782	T	0.22	-10.4643	5.6897	0.17823	0.1691:0.0:0.6772:0.1536	.	153;206;214	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	D	70;214;153;214	ENSP00000377059:E214D;ENSP00000352175:E214D	ENSP00000352175:E214D	E	+	3	2	SNX11	43553698	0.990000	0.36364	0.985000	0.45067	0.997000	0.91878	0.607000	0.24209	0.393000	0.25203	0.650000	0.86243	GAG		0.522	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1		
HOXB1	3211	broad.mit.edu	37	17	46607954	46607954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46607954C>A	ENST00000239174.6	-	1	405	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HOXB1_ENST00000577092.1_Nonsense_Mutation_p.E105*	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	105					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.E105*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGTCTCCTTCTGATTGACCC	0.662																																					p.E105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G313T	17						.						64.0	66.0	65.0					17																	46607954		2203	4300	6503	43962953	SO:0001587	stop_gained	3211	exon1				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.313G>T	17.37:g.46607954C>A	ENSP00000355140:p.Glu105*		43962953	NM_002144	Q4VB03	Nonsense_Mutation	SNP	ENST00000239174.6	37	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381889	0.82792	.	.	ENSG00000120094	ENST00000239174	.	.	.	4.37	4.37	0.52481	.	0.152027	0.30791	N	0.008876	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.7235	0.85416	0.0:1.0:0.0:0.0	.	.	.	.	X	105	.	ENSP00000355140:E105X	E	-	1	0	HOXB1	43962953	1.000000	0.71417	0.926000	0.36857	0.701000	0.40568	6.968000	0.76086	2.266000	0.75297	0.643000	0.83706	GAA		0.662	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3		
HOXB3	3213	broad.mit.edu	37	17	46629594	46629594	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46629594C>A	ENST00000470495.1	-	1	1690	c.243G>T	c.(241-243)gaG>gaT	p.E81D	HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.E8D|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.E8D|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.E81D|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.E81D|HOXB3_ENST00000476342.1_Missense_Mutation_p.E81D			P14651	HXB3_HUMAN	homeobox B3	81					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E81D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCGACAGGGGCTCGGGGGCCA	0.687																																					p.E81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G243T	17						.						29.0	39.0	36.0					17																	46629594		2200	4297	6497	43984593	SO:0001583	missense	3213	exon3				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.243G>T	17.37:g.46629594C>A	ENSP00000417207:p.Glu81Asp		43984593	NM_002146	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	5.076	0.199735	0.09652	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000489475;ENST00000476342;ENST00000471459	D;D;D;D;D;D;T	0.91351	-2.81;-2.83;-2.81;-2.81;-2.83;-2.81;1.38	3.96	2.96	0.34315	.	0.371166	0.25820	N	0.028092	D	0.86397	0.5923	L	0.52905	1.665	0.80722	D	1	B	0.22080	0.064	B	0.17979	0.02	T	0.80484	-0.1362	10	0.19147	T	0.46	.	12.7074	0.57067	0.1665:0.8335:0.0:0.0	.	81	P14651	HXB3_HUMAN	D	81;8;81;81;8;81;8	ENSP00000417207:E81D;ENSP00000419676:E8D;ENSP00000308252:E81D;ENSP00000420595:E81D;ENSP00000418729:E8D;ENSP00000418892:E81D;ENSP00000417400:E8D	ENSP00000308252:E81D	E	-	3	2	HOXB3	43984593	0.971000	0.33674	0.995000	0.50966	0.008000	0.06430	0.127000	0.15790	0.976000	0.38417	-0.500000	0.04577	GAG		0.687	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1		
HOXB4	3214	broad.mit.edu	37	17	46654195	46654195	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46654195C>A	ENST00000332503.5	-	2	2436	c.645G>T	c.(643-645)atG>atT	p.M215I	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000485909.2_5'Flank|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	215					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M215I(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TTTTCCACTTCATGCGCCGGT	0.652																																					p.M215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645T	17						.						84.0	90.0	88.0					17																	46654195		2203	4300	6503	44009194	SO:0001583	missense	3214	exon2				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.645G>T	17.37:g.46654195C>A	ENSP00000328928:p.Met215Ile		44009194	NM_024015	Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296951	0.95574	.	.	ENSG00000182742	ENST00000332503	D	0.96136	-3.92	5.78	5.78	0.91487	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97925	1.0317	10	0.87932	D	0	.	19.6218	0.95660	0.0:1.0:0.0:0.0	.	215	P17483	HXB4_HUMAN	I	215	ENSP00000328928:M215I	ENSP00000328928:M215I	M	-	3	0	HOXB4	44009194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.801000	0.85960	2.724000	0.93272	0.555000	0.69702	ATG		0.652	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2		
HOXB8	3218	broad.mit.edu	37	17	46690633	46690633	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:46690633C>A	ENST00000239144.4	-	2	897	c.663G>T	c.(661-663)gaG>gaT	p.E221D	HOXB7_ENST00000567101.2_Intron|HOXB7_ENST00000239165.7_5'Flank|HOXB8_ENST00000576562.1_Missense_Mutation_p.E220D	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	221					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E221D(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTTCTGTTTCTCCAGCTCCT	0.597																																					p.E221D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G663T	17						.						88.0	89.0	88.0					17																	46690633		2203	4300	6503	44045632	SO:0001583	missense	3218	exon2				CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.663G>T	17.37:g.46690633C>A	ENSP00000239144:p.Glu221Asp		44045632	NM_024016	Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765940	0.49574	.	.	ENSG00000120068	ENST00000239144	D	0.90133	-2.62	3.04	1.01	0.19927	.	0.000000	0.42682	U	0.000676	T	0.79639	0.4480	N	0.19112	0.55	0.44175	D	0.996982	B	0.19200	0.034	B	0.12156	0.007	T	0.67632	-0.5621	10	0.23891	T	0.37	.	8.0044	0.30317	0.0:0.6888:0.0:0.3112	.	221	P17481	HXB8_HUMAN	D	221	ENSP00000239144:E221D	ENSP00000239144:E221D	E	-	3	2	HOXB8	44045632	0.953000	0.32496	1.000000	0.80357	0.995000	0.86356	0.242000	0.18087	0.639000	0.30564	0.479000	0.44913	GAG		0.597	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3		
IGF2BP1	10642	broad.mit.edu	37	17	47115563	47115563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47115563G>T	ENST00000290341.3	+	6	769	c.435G>T	c.(433-435)gaG>gaT	p.E145D	IGF2BP1_ENST00000431824.2_Intron|RNU6-826P_ENST00000516827.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	145	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E145D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACCAGTTGGAGAACCATGCCC	0.577																																					p.E145D	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	17						.						86.0	89.0	88.0					17																	47115563		2203	4300	6503	44470562	SO:0001583	missense	10642	exon6			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.435G>T	17.37:g.47115563G>T	ENSP00000290341:p.Glu145Asp		44470562	NM_006546	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184037	0.38609	.	.	ENSG00000159217	ENST00000290341	T	0.15834	2.39	5.42	3.44	0.39384	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.055845	0.64402	D	0.000001	T	0.12433	0.0302	N	0.25201	0.72	0.80722	D	1	B	0.16802	0.019	B	0.30782	0.12	T	0.10590	-1.0623	10	0.37606	T	0.19	-32.6098	8.1065	0.30890	0.311:0.0:0.689:0.0	.	145	Q9NZI8	IF2B1_HUMAN	D	145	ENSP00000290341:E145D	ENSP00000290341:E145D	E	+	3	2	IGF2BP1	44470562	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.990000	0.29642	0.653000	0.30826	-0.251000	0.11542	GAG		0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
IGF2BP1	10642	broad.mit.edu	37	17	47117344	47117344	+	Missense_Mutation	SNP	G	G	A	rs375360274		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47117344G>A	ENST00000290341.3	+	7	1043	c.709G>A	c.(709-711)Gca>Aca	p.A237T	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	237	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.A237T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GAAGGAGAACGCAGGTGCAGC	0.542																																					p.A237T	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G709A	17						.	G	,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	139.0	127.0	131.0		,709	4.6	0.7	17		131	0,8600		0,0,4300	no	intron,missense	IGF2BP1	NM_001160423.1,NM_006546.3	,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,237/578	47117344	1,13005	2203	4300	6503	44472343	SO:0001583	missense	10642	exon7			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.709G>A	17.37:g.47117344G>A	ENSP00000290341:p.Ala237Thr		44472343	NM_006546	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036777	0.54896	2.27E-4	0.0	ENSG00000159217	ENST00000290341	T	0.42131	0.98	5.65	4.63	0.57726	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.056676	0.64402	D	0.000001	T	0.40815	0.1132	L	0.59436	1.845	0.80722	D	1	B	0.27910	0.193	B	0.28139	0.086	T	0.28170	-1.0052	10	0.37606	T	0.19	-15.9972	14.3287	0.66537	0.0:0.0:0.851:0.149	.	237	Q9NZI8	IF2B1_HUMAN	T	237	ENSP00000290341:A237T	ENSP00000290341:A237T	A	+	1	0	IGF2BP1	44472343	1.000000	0.71417	0.654000	0.29608	0.654000	0.38779	7.885000	0.87282	2.655000	0.90218	0.655000	0.94253	GCA		0.542	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
IGF2BP1	10642	broad.mit.edu	37	17	47119662	47119662	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47119662G>A	ENST00000290341.3	+	9	1334	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E195K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	334	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.E334K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGGGGCCATCGAGAATTGTTG	0.527																																					p.E195K	Esophageal Squamous(198;1041 2123 8248 37119 38268)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G583A	17						.						116.0	115.0	115.0					17																	47119662		2203	4300	6503	44474661	SO:0001583	missense	10642	exon7			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1000G>A	17.37:g.47119662G>A	ENSP00000290341:p.Glu334Lys		44474661	NM_001160423	C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662202	0.88251	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.35973	1.28;1.28	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.051943	0.85682	D	0.000000	T	0.56247	0.1972	L	0.55213	1.73	0.80722	D	1	D;P	0.54772	0.968;0.523	D;B	0.65010	0.931;0.344	T	0.50988	-0.8762	10	0.48119	T	0.1	-27.4242	19.5457	0.95295	0.0:0.0:1.0:0.0	.	195;334	C9JT33;Q9NZI8	.;IF2B1_HUMAN	K	334;195	ENSP00000290341:E334K;ENSP00000389135:E195K	ENSP00000290341:E334K	E	+	1	0	IGF2BP1	44474661	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.696000	0.98695	2.763000	0.94921	0.655000	0.94253	GAG		0.527	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
B4GALNT2	124872	broad.mit.edu	37	17	47241548	47241548	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47241548G>T	ENST00000300404.2	+	8	1104	c.1045G>T	c.(1045-1047)Gac>Tac	p.D349Y	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D289Y|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D263Y	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	349					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.D349Y(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GTATTACCCAGACTTGACCGT	0.488																																					p.D349Y	GBM(124;244 1635 8663 18097 33175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045T	17						.						165.0	165.0	165.0					17																	47241548		2203	4300	6503	44596547	SO:0001583	missense	124872	exon8			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1045G>T	17.37:g.47241548G>T	ENSP00000300404:p.Asp349Tyr		44596547	NM_153446	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229802	0.58777	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.79554	-1.28;-1.28;-1.28	5.58	5.58	0.84498	Glycosyl transferase, family 2 (1);	0.128081	0.51477	D	0.000086	D	0.86213	0.5879	L	0.54323	1.7	0.39191	D	0.962959	D;D	0.89917	1.0;0.999	D;D	0.79108	0.991;0.992	D	0.87363	0.2345	10	0.62326	D	0.03	-31.9085	11.772	0.51965	0.0822:0.0:0.9178:0.0	.	289;349	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	Y	263;289;349	ENSP00000425510:D263Y;ENSP00000377022:D289Y;ENSP00000300404:D349Y	ENSP00000300404:D349Y	D	+	1	0	B4GALNT2	44596547	0.980000	0.34600	1.000000	0.80357	0.737000	0.42083	3.724000	0.54962	2.621000	0.88768	0.555000	0.69702	GAC		0.488	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446	
B4GALNT2	124872	broad.mit.edu	37	17	47246102	47246102	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47246102G>T	ENST00000300404.2	+	10	1394	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E385D|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E359D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	445					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.E445D(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AACAGAGTGAGAATGGGGCCT	0.542																																					p.E445D	GBM(124;244 1635 8663 18097 33175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1335T	17						.						101.0	77.0	85.0					17																	47246102		2203	4300	6503	44601101	SO:0001583	missense	124872	exon10			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1335G>T	17.37:g.47246102G>T	ENSP00000300404:p.Glu445Asp		44601101	NM_153446	B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042633	0.19748	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.27104	1.69;1.69;1.69	5.7	2.67	0.31697	.	0.614190	0.15418	N	0.263392	T	0.12008	0.0292	N	0.16130	0.375	0.09310	N	1	B;B	0.30068	0.003;0.267	B;B	0.27608	0.011;0.081	T	0.26815	-1.0092	10	0.18710	T	0.47	-12.1329	6.0636	0.19852	0.2175:0.1464:0.6361:0.0	.	385;445	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	D	359;385;445	ENSP00000425510:E359D;ENSP00000377022:E385D;ENSP00000300404:E445D	ENSP00000300404:E445D	E	+	3	2	B4GALNT2	44601101	0.995000	0.38212	0.009000	0.14445	0.759000	0.43091	0.511000	0.22739	0.769000	0.33313	-0.225000	0.12378	GAG		0.542	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446	
ZNF652	22834	broad.mit.edu	37	17	47375855	47375855	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47375855G>T	ENST00000362063.2	-	6	2059	c.1741C>A	c.(1741-1743)Cct>Act	p.P581T	ZNF652_ENST00000430262.2_Missense_Mutation_p.P581T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	581	Mediates interaction with CBFA2T3.				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.P581S(1)|p.P581T(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGATTTAAAGGCTCACTCTTA	0.542																																					p.P581T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1741A	17						.						79.0	78.0	79.0					17																	47375855		2203	4300	6503	44730854	SO:0001583	missense	22834	exon6			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1741C>A	17.37:g.47375855G>T	ENSP00000354686:p.Pro581Thr		44730854	NM_001145365	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796681	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.78481	-1.18;-1.18	4.51	4.51	0.55191	.	0.055059	0.85682	D	0.000000	T	0.66944	0.2841	L	0.36672	1.1	0.53688	D	0.999973	P	0.37781	0.608	B	0.32465	0.146	T	0.72211	-0.4359	10	0.62326	D	0.03	-10.0371	13.1798	0.59647	0.0:0.1604:0.8396:0.0	.	581	Q9Y2D9	ZN652_HUMAN	T	581	ENSP00000354686:P581T;ENSP00000416305:P581T	ENSP00000354686:P581T	P	-	1	0	ZNF652	44730854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.927000	0.70080	2.506000	0.84524	0.591000	0.81541	CCT		0.542	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
ZNF652	22834	broad.mit.edu	37	17	47390127	47390127	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47390127C>A	ENST00000362063.2	-	3	1299	c.981G>T	c.(979-981)aaG>aaT	p.K327N	ZNF652_ENST00000430262.2_Missense_Mutation_p.K327N	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	327					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.K327N(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGAAAATTTCTTTTCTGCAT	0.363																																					p.K327N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G981T	17						.						78.0	79.0	79.0					17																	47390127		2203	4300	6503	44745126	SO:0001583	missense	22834	exon3			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.981G>T	17.37:g.47390127C>A	ENSP00000354686:p.Lys327Asn		44745126	NM_001145365	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698319	0.68386	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.35048	1.33;1.33	5.67	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.76938	2.355	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.61357	-0.7079	10	0.87932	D	0	-21.4443	10.6194	0.45470	0.0:0.8424:0.0:0.1576	.	327	Q9Y2D9	ZN652_HUMAN	N	327	ENSP00000354686:K327N;ENSP00000416305:K327N	ENSP00000354686:K327N	K	-	3	2	ZNF652	44745126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.936000	0.56568	1.377000	0.46286	0.591000	0.81541	AAG		0.363	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
PHB	5245	broad.mit.edu	37	17	47482547	47482547	+	Missense_Mutation	SNP	G	G	A	rs377541756		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47482547G>A	ENST00000300408.3	-	7	698	c.626C>T	c.(625-627)gCg>gTg	p.A209V	RP11-1079K10.4_ENST00000506504.3_RNA|PHB_ENST00000508009.1_5'Flank|PHB_ENST00000511832.1_Intron|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	209					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)	p.A209V(1)		endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GATGATGGCCGCCTTTTTCTG	0.552																																					p.A209V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C626T	17						.	G	VAL/ALA	0,4406		0,0,2203	25.0	24.0	25.0		626	5.1	1.0	17		25	1,8595		0,1,4297	no	missense	PHB	NM_002634.2	64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	209/273	47482547	1,13001	2203	4298	6501	44837546	SO:0001583	missense	5245	exon7				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.626C>T	17.37:g.47482547G>A	ENSP00000300408:p.Ala209Val		44837546	NM_002634	B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070160	0.76301	0.0	1.16E-4	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124	.	.	.	5.14	5.14	0.70334	.	0.102691	0.64402	D	0.000003	T	0.76147	0.3947	M	0.86651	2.83	0.80722	D	1	P	0.35527	0.507	B	0.40375	0.327	T	0.79581	-0.1744	9	0.56958	D	0.05	.	18.3887	0.90474	0.0:0.0:1.0:0.0	.	209	P35232	PHB_HUMAN	V	209	.	ENSP00000300408:A209V	A	-	2	0	PHB	44837546	1.000000	0.71417	0.976000	0.42696	0.644000	0.38419	9.620000	0.98373	2.661000	0.90470	0.655000	0.94253	GCG		0.552	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634	
NGFR	4804	broad.mit.edu	37	17	47590207	47590207	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47590207G>T	ENST00000172229.3	+	6	1245	c.1120G>T	c.(1120-1122)Gac>Tac	p.D374Y	NGFR_ENST00000504201.1_Missense_Mutation_p.D280Y|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	374	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.D374Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CGAGCACATAGACTCCTTTAC	0.701																																					p.D374Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1120T	17						.						40.0	45.0	44.0					17																	47590207		2203	4299	6502	44945206	SO:0001583	missense	4804	exon6			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1120G>T	17.37:g.47590207G>T	ENSP00000172229:p.Asp374Tyr		44945206	NM_002507	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263637	0.80358	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.86769	-2.17;-2.17	4.85	4.85	0.62838	Death (3);DEATH-like (2);	0.261083	0.35407	N	0.003222	D	0.91415	0.7291	L	0.55481	1.735	0.45366	D	0.998355	D	0.67145	0.996	D	0.67382	0.951	D	0.92513	0.6018	10	0.87932	D	0	-37.4687	16.7461	0.85471	0.0:0.0:1.0:0.0	.	374	P08138	TNR16_HUMAN	Y	374;280	ENSP00000172229:D374Y;ENSP00000421731:D280Y	ENSP00000172229:D374Y	D	+	1	0	NGFR	44945206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.455000	0.73497	2.233000	0.73108	0.561000	0.74099	GAC		0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1		
FAM117A	81558	broad.mit.edu	37	17	47788670	47788670	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47788670G>A	ENST00000240364.2	-	8	1388	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.R165C	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	437	Pro-rich.							p.R437C(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGTGGGGTGCGCTGCCATGGC	0.637																																					p.R437C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1309T	17						.						25.0	27.0	26.0					17																	47788670		2203	4299	6502	45143669	SO:0001583	missense	81558	exon8			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1309C>T	17.37:g.47788670G>A	ENSP00000240364:p.Arg437Cys		45143669	NM_030802	B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406769	0.62399	.	.	ENSG00000121104	ENST00000240364	.	.	.	5.23	4.24	0.50183	.	0.186093	0.31020	N	0.008407	T	0.33731	0.0873	N	0.08118	0	0.42444	D	0.992725	D	0.59767	0.986	P	0.47015	0.534	T	0.41928	-0.9481	9	0.87932	D	0	-12.0034	13.0687	0.59048	0.0:0.0:0.839:0.161	.	437	Q9C073	F117A_HUMAN	C	437	.	ENSP00000240364:R437C	R	-	1	0	FAM117A	45143669	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	3.295000	0.51794	1.393000	0.46605	0.557000	0.71058	CGC		0.637	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802	
KAT7	11143	broad.mit.edu	37	17	47874243	47874243	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:47874243T>G	ENST00000259021.4	+	3	575	c.295T>G	c.(295-297)Tca>Gca	p.S99A	KAT7_ENST00000509773.1_Missense_Mutation_p.S99A|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.S99A|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000503935.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	99					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S99A(1)									GCAGACTCGTTCATCTGGTTC	0.478																																					p.S99A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T295G	17						.						156.0	157.0	156.0					17																	47874243		2203	4300	6503	45229242	SO:0001583	missense	11143	exon3			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.295T>G	17.37:g.47874243T>G	ENSP00000259021:p.Ser99Ala		45229242	NM_001199157	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789957	0.90367	.	.	ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.66674	0.2813	L	0.47716	1.5	0.80722	D	1	P;P;P	0.47910	0.841;0.841;0.902	P;P;P	0.57283	0.661;0.661;0.817	T	0.64236	-0.6455	9	0.37606	T	0.19	-7.9955	16.0444	0.80711	0.0:0.0:0.0:1.0	.	99;99;99	B4DFB4;O95251;G5E9K7	.;KAT7_HUMAN;.	A	99	.	ENSP00000259021:S99A	S	+	1	0	KAT7	45229242	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.206000	0.77891	2.271000	0.75665	0.459000	0.35465	TCA		0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	
PDK2	5164	broad.mit.edu	37	17	48186759	48186759	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48186759C>A	ENST00000503176.1	+	10	1239	c.1078C>A	c.(1078-1080)Ctc>Atc	p.L360I	PDK2_ENST00000007708.3_Missense_Mutation_p.L296I	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	360	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.L360I(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						TGTCATCTATCTCAAGGTGAG	0.587									Autosomal Dominant Polycystic Kidney Disease																												p.L360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078A	17						.						68.0	57.0	61.0					17																	48186759		2203	4300	6503	45541758	SO:0001583	missense	5164	exon10	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.1078C>A	17.37:g.48186759C>A	ENSP00000420927:p.Leu360Ile		45541758	NM_002611	A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548678	0.65311	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.60548	0.18;0.18	4.85	4.85	0.62838	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.64402	D	0.000006	T	0.68714	0.3031	M	0.72479	2.2	0.80722	D	1	P	0.43973	0.823	P	0.60068	0.868	T	0.67741	-0.5592	10	0.38643	T	0.18	-29.2355	7.825	0.29309	0.0:0.8203:0.0:0.1797	.	360	Q15119	PDK2_HUMAN	I	296;360	ENSP00000007708:L296I;ENSP00000420927:L360I	ENSP00000007708:L296I	L	+	1	0	PDK2	45541758	0.973000	0.33851	1.000000	0.80357	0.972000	0.66771	0.172000	0.16704	2.401000	0.81631	0.462000	0.41574	CTC		0.587	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611	
SAMD14	201191	broad.mit.edu	37	17	48202316	48202316	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48202316G>T	ENST00000330175.4	-	2	325	c.8C>A	c.(7-9)tCt>tAt	p.S3Y	SAMD14_ENST00000503131.1_Missense_Mutation_p.S3Y|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	3								p.S3Y(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAGCTTTGAAGAAGCCATGAC	0.498																																					p.S3Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8A	17						.						114.0	111.0	112.0					17																	48202316		2203	4300	6503	45557315	SO:0001583	missense	201191	exon2				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.8C>A	17.37:g.48202316G>T	ENSP00000329144:p.Ser3Tyr		45557315	NM_174920	A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971623	0.34754	.	.	ENSG00000167100	ENST00000330175;ENST00000503131;ENST00000511964	.	.	.	5.11	5.11	0.69529	.	0.000000	0.40469	U	0.001100	T	0.60676	0.2287	N	0.14661	0.345	0.44085	D	0.996844	D;D	0.58620	0.972;0.983	D;P	0.69142	0.962;0.837	T	0.67665	-0.5612	9	0.87932	D	0	-1.3489	15.4499	0.75265	0.0:0.0:1.0:0.0	.	3;3	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	Y	3	.	ENSP00000329144:S3Y	S	-	2	0	SAMD14	45557315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.004000	0.63966	2.375000	0.81037	0.655000	0.94253	TCT		0.498	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920	
ARRB2	409	broad.mit.edu	37	17	4621594	4621594	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4621594C>T	ENST00000269260.2	+	9	893	c.660C>T	c.(658-660)caC>caT	p.H220H	ARRB2_ENST00000571206.1_Silent_p.H28H|ARRB2_ENST00000346341.2_Silent_p.H205H|ARRB2_ENST00000412477.3_Silent_p.H241H|ARRB2_ENST00000572457.1_Silent_p.H28H|ARRB2_ENST00000381488.6_Silent_p.H205H|ARRB2_ENST00000574954.1_Silent_p.H28H|ARRB2_ENST00000575877.1_Silent_p.H220H	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	220					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)	p.H220H(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TAAATGTCCACGTCACCAACA	0.532																																					p.H220H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	17						.						97.0	91.0	93.0					17																	4621594		2203	4300	6503	4568343	SO:0001819	synonymous_variant	409	exon9				CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.660C>T	17.37:g.4621594C>T			4568343	NM_004313	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	CCDS11050.1																																																																																				0.532	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313	
ZMYND15	84225	broad.mit.edu	37	17	4642635	4642635	+	5'Flank	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4642635C>A	ENST00000433935.1	+	0	0				CXCL16_ENST00000576153.1_5'Flank|ZMYND15_ENST00000573751.2_5'Flank|ZMYND15_ENST00000592813.1_5'Flank|CXCL16_ENST00000293778.6_Missense_Mutation_p.E19D|CXCL16_ENST00000574412.1_Missense_Mutation_p.E19D|ZMYND15_ENST00000269289.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15						negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E19D(2)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCGTCCCATCTCGGGGCTCC	0.687																																					p.E19D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G57T	17						.						23.0	28.0	26.0					17																	4642635		2203	4299	6502	4589384	SO:0001631	upstream_gene_variant	58191	exon1			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760		17.37:g.4642635C>A	Exception_encountered		4589384	NM_001100812	B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055175	0.19907	.	.	ENSG00000161921	ENST00000293778	T	0.32023	1.47	3.69	1.65	0.23941	.	1.590230	0.04483	U	0.378049	T	0.27697	0.0681	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38286	-0.9668	7	0.22706	T	0.39	-0.3861	12.188	0.54250	0.0:0.6721:0.3279:0.0	.	.	.	.	D	19	ENSP00000293778:E19D	ENSP00000293778:E19D	E	-	3	2	CXCL16	4589384	0.124000	0.22315	0.225000	0.23894	0.007000	0.05969	0.031000	0.13710	0.164000	0.19529	-1.358000	0.01219	GAG		0.687	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265	
COL1A1	1277	broad.mit.edu	37	17	48262896	48262896	+	Silent	SNP	G	G	A	rs72656352		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48262896G>A	ENST00000225964.5	-	51	4480	c.4362C>T	c.(4360-4362)ttC>ttT	p.F1454F		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1454	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.F1454F(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGTCGAAGCCGAATTCCTGGT	0.582			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.F1454F			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4362T	17						.						108.0	96.0	100.0					17																	48262896		2203	4300	6503	45617895	SO:0001819	synonymous_variant	1277	exon51			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4362C>T	17.37:g.48262896G>A			45617895	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.582	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
ZMYND15	84225	broad.mit.edu	37	17	4644894	4644894	+	Missense_Mutation	SNP	G	G	A	rs200227685		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4644894G>A	ENST00000433935.1	+	3	667	c.610G>A	c.(610-612)Gtt>Att	p.V204I	ZMYND15_ENST00000573751.2_Missense_Mutation_p.V204I|ZMYND15_ENST00000592813.1_Missense_Mutation_p.V204I|CXCL16_ENST00000293778.6_5'Flank|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.V204I	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	204					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V204I(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCCCTGCACGTTTCCTGTCT	0.562																																					p.V204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	17						.	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	157.0	165.0	162.0		610,610	3.2	1.0	17		162	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZMYND15	NM_001136046.1,NM_032265.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	204/743,204/704	4644894	1,13005	2203	4300	6503	4591643	SO:0001583	missense	84225	exon3			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.610G>A	17.37:g.4644894G>A	ENSP00000391742:p.Val204Ile		4591643	NM_032265	B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846815	0.32606	0.0	1.16E-4	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.50001	0.78;0.76	5.15	3.17	0.36434	.	0.384446	0.21929	N	0.067049	T	0.28001	0.0690	N	0.14661	0.345	0.18873	N	0.999983	B;B	0.21753	0.06;0.013	B;B	0.13407	0.009;0.001	T	0.20638	-1.0269	10	0.72032	D	0.01	-7.5379	7.5	0.27511	0.0:0.5915:0.3223:0.0862	.	204;204	B4DXY5;Q9H091	.;ZMY15_HUMAN	I	204	ENSP00000391742:V204I;ENSP00000269289:V204I	ENSP00000269289:V204I	V	+	1	0	ZMYND15	4591643	0.982000	0.34865	1.000000	0.80357	0.897000	0.52465	0.656000	0.24948	0.763000	0.33175	-0.226000	0.12346	GTT		0.562	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265	
CHAD	1101	broad.mit.edu	37	17	48542777	48542777	+	Missense_Mutation	SNP	C	C	T	rs34405131	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48542777C>T	ENST00000508540.1	-	3	1114	c.962G>A	c.(961-963)cGc>cAc	p.R321H	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R321H|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	321	LRRCT.				bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.R321H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGCATCTGGGCGGGAGGCCTT	0.627																																					p.R321H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	17						.						47.0	41.0	43.0					17																	48542777		2203	4300	6503	45897776	SO:0001583	missense	1101	exon3			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.962G>A	17.37:g.48542777C>T	ENSP00000423812:p.Arg321His		45897776	NM_001267	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.163498|5.163498	0.94727|0.94727	.|.	.|.	ENSG00000136457|ENSG00000136457	ENST00000506187|ENST00000508540;ENST00000258969	.|T;T	.|0.56611	.|0.45;0.45	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71813|0.71813	0.3384|0.3384	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.74219|0.74219	-0.3736|-0.3736	5|10	.|0.59425	.|D	.|0.04	.|.	18.5806|18.5806	0.91170|0.91170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|321	.|O15335	.|CHAD_HUMAN	T|H	4|321	.|ENSP00000423812:R321H;ENSP00000258969:R321H	.|ENSP00000258969:R321H	A|R	-|-	1|2	0|0	CHAD|CHAD	45897776|45897776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.244000|5.244000	0.65400|0.65400	2.380000|2.380000	0.81148|0.81148	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267	
MYCBPAP	84073	broad.mit.edu	37	17	48595005	48595005	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48595005C>A	ENST00000323776.5	+	4	705	c.543C>A	c.(541-543)atC>atA	p.I181I	MYCBPAP_ENST00000436259.2_Silent_p.I144I	NM_032133.4	NP_115509.4			MYCBP associated protein									p.I144I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCACCACATCTTGGGGAGTC	0.517																																					p.I181I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543A	17						.						69.0	67.0	68.0					17																	48595005		2203	4300	6503	45950004	SO:0001819	synonymous_variant	84073	exon4			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.543C>A	17.37:g.48595005C>A			45950004	NM_032133		Silent	SNP	ENST00000323776.5	37	CCDS32680.2																																																																																				0.517	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133	
CACNA1G	8913	broad.mit.edu	37	17	48693689	48693689	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48693689C>A	ENST00000359106.5	+	28	4965	c.4965C>A	c.(4963-4965)gtC>gtA	p.V1655V	CACNA1G_ENST00000514079.1_Silent_p.V1662V|CACNA1G_ENST00000515411.1_Silent_p.V1637V|CACNA1G_ENST00000510366.1_Silent_p.V1603V|CACNA1G_ENST00000360761.4_Silent_p.V1632V|CACNA1G_ENST00000513964.1_Silent_p.V1610V|CACNA1G_ENST00000352832.5_Silent_p.V1621V|CACNA1G_ENST00000507510.2_Silent_p.V1655V|CACNA1G_ENST00000503485.1_Silent_p.V1621V|CACNA1G_ENST00000354983.4_Silent_p.V1621V|CACNA1G_ENST00000515765.1_Silent_p.V1644V|CACNA1G_ENST00000515165.1_Silent_p.V1655V|CACNA1G_ENST00000510115.1_Silent_p.V1621V|CACNA1G_ENST00000502264.1_Silent_p.V1632V|CACNA1G_ENST00000507896.1_Silent_p.V1644V|CACNA1G_ENST00000514181.1_Silent_p.V1637V|CACNA1G_ENST00000442258.2_Silent_p.V1614V|CACNA1G_ENST00000429973.2_Silent_p.V1637V|CACNA1G_ENST00000507609.1_Silent_p.V1655V|CACNA1G_ENST00000507336.1_Silent_p.V1644V|CACNA1G_ENST00000358244.5_Silent_p.V1621V|CACNA1G_ENST00000513689.2_Silent_p.V1610V|CACNA1G_ENST00000512389.1_Silent_p.V1644V|CACNA1G_ENST00000505165.1_Silent_p.V1655V|CACNA1G_ENST00000514717.1_Silent_p.V1598V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1655					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.V1621V(1)|p.V1655V(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATCTTTGTCTTGGAGTCAG	0.517																																					p.V1632V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4896A	17						.						123.0	120.0	121.0					17																	48693689		1911	4120	6031	46048688	SO:0001819	synonymous_variant	8913	exon27			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4965C>A	17.37:g.48693689C>A			46048688	NM_198382	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				0.517	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
LUC7L3	51747	broad.mit.edu	37	17	48821170	48821170	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48821170C>T	ENST00000505658.1	+	6	719	c.530C>T	c.(529-531)tCg>tTg	p.S177L	LUC7L3_ENST00000544170.1_Splice_Site_p.S101L|LUC7L3_ENST00000393227.2_Splice_Site_p.S177L|LUC7L3_ENST00000240304.1_Splice_Site_p.S177L			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	177					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.S177L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TCCACAACGTCGGTGAGTAAA	0.368																																					p.S177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530T	17						.						83.0	84.0	84.0					17																	48821170		2203	4300	6503	46176169	SO:0001630	splice_region_variant	51747	exon6				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.531+1C>T	17.37:g.48821170C>T			46176169	NM_006107	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	ENST00000505658.1	37	CCDS11573.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067365	0.55539	.	.	ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000542316;ENST00000544170	T;T;T;T	0.64085	1.38;-0.08;1.38;1.54	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	L	0.47716	1.5	0.80722	D	1	B;D;D	0.71674	0.295;0.997;0.998	B;D;D	0.76575	0.258;0.968;0.988	T	0.70714	-0.4796	10	0.34782	T	0.22	-3.3888	19.7073	0.96079	0.0:1.0:0.0:0.0	.	101;177;177	B4DJ96;O95232;A8K3C5	.;LC7L3_HUMAN;.	L	177;177;177;177;101	ENSP00000425092:S177L;ENSP00000376919:S177L;ENSP00000240304:S177L;ENSP00000444253:S101L	ENSP00000240304:S177L	S	+	2	0	LUC7L3	46176169	1.000000	0.71417	0.993000	0.49108	0.016000	0.09150	7.776000	0.85560	2.722000	0.93159	0.557000	0.71058	TCG		0.368	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424	Missense_Mutation
TOB1	10140	broad.mit.edu	37	17	48941288	48941288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:48941288C>A	ENST00000268957.3	-	3	519	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	TOB1-AS1_ENST00000416263.3_RNA|TOB1_ENST00000509385.1_5'UTR|TOB1-AS1_ENST00000523470.1_RNA|TOB1_ENST00000499247.2_Nonsense_Mutation_p.E31*	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	31					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.R22fs*5(1)|p.E31*(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTTTCAAGTTCTTCACCAAAA	0.383																																					p.E31X	NSCLC(144;643 1919 24513 29423 40686)											.	.	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	large_intestine(1)|liver(1)	c.G91T	17						.						100.0	103.0	102.0					17																	48941288		2203	4300	6503	46296287	SO:0001587	stop_gained	10140	exon1			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.91G>T	17.37:g.48941288C>A	ENSP00000268957:p.Glu31*		46296287	NM_005749	B2R9T0|D3DTY3|Q4KMQ0	Nonsense_Mutation	SNP	ENST00000268957.3	37	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.600296	0.97697	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.7503	0.96265	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000268957:E31X	E	-	1	0	TOB1	46296287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.717000	0.68446	2.648000	0.89879	0.655000	0.94253	GAA		0.383	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1		
SPAG9	9043	broad.mit.edu	37	17	49067097	49067097	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:49067097G>T	ENST00000262013.7	-	21	2962	c.2754C>A	c.(2752-2754)gtC>gtA	p.V918V	SPAG9_ENST00000505279.1_Silent_p.V908V|SPAG9_ENST00000357122.4_Silent_p.V904V|SPAG9_ENST00000510283.1_Silent_p.V761V	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	918					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.V904V(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GATCTGTAAAGACATGCTCTG	0.488																																					p.V904V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2712A	17						.						147.0	119.0	129.0					17																	49067097		2203	4300	6503	46422096	SO:0001819	synonymous_variant	9043	exon20			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2754C>A	17.37:g.49067097G>T			46422096	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316781	0.23908	.	.	ENSG00000008294	ENST00000513906	.	.	.	5.77	-1.31	0.09230	.	.	.	.	.	T	0.39911	0.1096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-13.2053	1.5637	0.02600	0.345:0.2325:0.3088:0.1136	.	.	.	.	Y	162	.	.	S	-	2	0	SPAG9	46422096	0.995000	0.38212	0.981000	0.43875	0.997000	0.91878	0.261000	0.18442	-0.434000	0.07275	0.650000	0.86243	TCT		0.488	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
SPAG9	9043	broad.mit.edu	37	17	49079095	49079095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:49079095G>A	ENST00000262013.7	-	13	1796	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	SPAG9_ENST00000505279.1_Nonsense_Mutation_p.R516*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.R516*|SPAG9_ENST00000510283.1_Nonsense_Mutation_p.R373*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	530					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R516*(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCTGTCCATCGAACAGCTTCC	0.423																																					p.R516X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1546T	17						.						143.0	129.0	134.0					17																	49079095		2203	4300	6503	46434094	SO:0001587	stop_gained	9043	exon12			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1588C>T	17.37:g.49079095G>A	ENSP00000262013:p.Arg530*		46434094	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Nonsense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	40	8.332554	0.98764	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	.	.	.	5.68	5.68	0.88126	.	0.056956	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8475	14.9304	0.70911	0.0:0.0:0.8569:0.1431	.	.	.	.	X	530;286;272;373;516;516;128	.	ENSP00000262013:R530X	R	-	1	2	SPAG9	46434094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.122000	0.50446	2.838000	0.97847	0.655000	0.94253	CGA		0.423	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
SPAG9	9043	broad.mit.edu	37	17	49082620	49082620	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:49082620G>A	ENST00000262013.7	-	12	1637	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SPAG9_ENST00000505279.1_Missense_Mutation_p.R463W|SPAG9_ENST00000357122.4_Missense_Mutation_p.R463W|SPAG9_ENST00000510283.1_Missense_Mutation_p.R320W	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	477					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R463W(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTCTGCCCGAGCTCTAGTG	0.343																																					p.R463W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1387T	17						.						130.0	102.0	111.0					17																	49082620		2203	4300	6503	46437619	SO:0001583	missense	9043	exon11			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1429C>T	17.37:g.49082620G>A	ENSP00000262013:p.Arg477Trp		46437619	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330783	0.81690	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445;ENST00000511795	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999	D;D;D;D;P;D	0.80764	0.976;0.994;0.977;0.991;0.901;0.91	D	0.93795	0.7096	10	0.87932	D	0	-13.3482	15.3096	0.74019	0.0:0.0:0.8601:0.1398	.	463;477;463;477;463;320	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	W	477;233;219;320;463;463;75;156	ENSP00000262013:R477W;ENSP00000423165:R320W;ENSP00000426900:R463W;ENSP00000349636:R463W	ENSP00000262013:R477W	R	-	1	2	SPAG9	46437619	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.383000	0.59600	2.868000	0.98415	0.557000	0.71058	CGG		0.343	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
SPAG9	9043	broad.mit.edu	37	17	49091664	49091664	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:49091664G>A	ENST00000262013.7	-	9	1350	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	SPAG9_ENST00000505279.1_Missense_Mutation_p.S367F|SPAG9_ENST00000357122.4_Missense_Mutation_p.S367F|SPAG9_ENST00000510283.1_Missense_Mutation_p.S224F	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	381					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.S367F(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCAAAGAGAGATTCTGTATT	0.388																																					p.S367F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1100T	17						.						141.0	125.0	130.0					17																	49091664		2203	4300	6503	46446663	SO:0001583	missense	9043	exon8			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1142C>T	17.37:g.49091664G>A	ENSP00000262013:p.Ser381Phe		46446663	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175573	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	T;T;T;T	0.38560	1.2;1.13;1.18;1.19	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.997	D;D;D;D;D;D	0.97110	0.999;1.0;0.993;0.993;0.991;0.976	T	0.66705	-0.5856	10	0.87932	D	0	-12.3124	20.0529	0.97634	0.0:0.0:1.0:0.0	.	367;381;367;381;367;224	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	F	381;137;123;123;224;367;367;51	ENSP00000262013:S381F;ENSP00000423165:S224F;ENSP00000426900:S367F;ENSP00000349636:S367F	ENSP00000262013:S381F	S	-	2	0	SPAG9	46446663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.717000	0.98755	2.814000	0.96858	0.591000	0.81541	TCT		0.388	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
VPS53	55275	broad.mit.edu	37	17	531401	531401	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:531401T>G	ENST00000571805.1	-	9	894	c.758A>C	c.(757-759)aAa>aCa	p.K253T	VPS53_ENST00000446250.2_Missense_Mutation_p.K55T|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000291074.5_Missense_Mutation_p.K224T|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.K253T			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	253					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.K224T(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GATTTCCTGTTTGATCCTGGG	0.373																																					p.K253T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A758C	17						.						138.0	130.0	133.0					17																	531401		2203	4300	6503	478151	SO:0001583	missense	55275	exon9				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.758A>C	17.37:g.531401T>G	ENSP00000459312:p.Lys253Thr		478151	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	T	25.8	4.670703	0.88348	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074	T;T;T	0.36157	1.27;1.27;1.27	5.93	5.93	0.95920	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.61080	0.989;0.981;0.985;0.981	D;D;D;D	0.68621	0.932;0.959;0.958;0.947	T	0.73116	-0.4084	10	0.87932	D	0	-23.9418	15.5567	0.76200	0.0:0.0:0.0:1.0	.	253;55;253;224	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	T	253;55;224	ENSP00000401435:K253T;ENSP00000394386:K55T;ENSP00000291074:K224T	ENSP00000291074:K224T	K	-	2	0	VPS53	478151	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.803000	0.62546	2.270000	0.75569	0.460000	0.39030	AAA		0.373	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
CHRNE	1145	broad.mit.edu	37	17	4806026	4806026	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4806026G>T	ENST00000293780.4	-	2	89	c.79C>A	c.(79-81)Ctt>Att	p.L27I	CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	27					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.L27I(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGGTGATAAAGACGCAGTTCC	0.567																																					p.L27I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C79A	17						.						146.0	150.0	148.0					17																	4806026		2203	4300	6503	4746805	SO:0001583	missense	1145	exon2			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.79C>A	17.37:g.4806026G>T	ENSP00000293780:p.Leu27Ile		4746805	NM_000080	D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755321	0.69648	.	.	ENSG00000108556	ENST00000293780	D	0.83506	-1.73	5.11	5.11	0.69529	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.92773	0.7702	M	0.92459	3.31	0.80722	D	1	D	0.55800	0.973	D	0.91635	0.999	D	0.93916	0.7201	10	0.87932	D	0	.	13.9116	0.63871	0.0:0.0:1.0:0.0	.	27	Q04844	ACHE_HUMAN	I	27	ENSP00000293780:L27I	ENSP00000293780:L27I	L	-	1	0	CHRNE	4746805	0.666000	0.27475	0.388000	0.26195	0.619000	0.37552	1.071000	0.30666	2.652000	0.90054	0.655000	0.94253	CTT		0.567	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3		
ENO3	2027	broad.mit.edu	37	17	4856137	4856137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4856137G>T	ENST00000323997.6	+	3	265	c.133G>T	c.(133-135)Gag>Tag	p.E45*	ENO3_ENST00000518175.1_Nonsense_Mutation_p.E45*|ENO3_ENST00000519584.1_Nonsense_Mutation_p.E45*	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	45					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.E45*(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGGTATCTATGAGGCTCTGGA	0.607																																					p.E45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G133T	17						.						31.0	32.0	32.0					17																	4856137		2203	4300	6503	4796883	SO:0001587	stop_gained	2027	exon3			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.133G>T	17.37:g.4856137G>T	ENSP00000324105:p.Glu45*		4796883	NM_053013	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Nonsense_Mutation	SNP	ENST00000323997.6	37	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234619	0.95207	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.8053	15.2036	0.73159	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000324105:E45X	E	+	1	0	ENO3	4796883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.223000	0.95203	2.460000	0.83146	0.655000	0.94253	GAG		0.607	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		
CA10	56934	broad.mit.edu	37	17	49731052	49731052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:49731052C>A	ENST00000285273.4	-	6	1622	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Nonsense_Mutation_p.E96*|CA10_ENST00000442502.2_Nonsense_Mutation_p.E171*|CA10_ENST00000451037.2_Nonsense_Mutation_p.E171*|CA10_ENST00000340813.6_Nonsense_Mutation_p.E177*	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	171					brain development (GO:0007420)			p.E171*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTTGCAGCTTCTGTGACATTC	0.393																																					p.E171X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G511T	17						.						111.0	104.0	106.0					17																	49731052		2203	4300	6503	47086051	SO:0001587	stop_gained	56934	exon5			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.511G>T	17.37:g.49731052C>A	ENSP00000285273:p.Glu171*		47086051	NM_020178	B2R7J0|B4DGL6	Nonsense_Mutation	SNP	ENST00000285273.4	37	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	47	13.670923	0.99756	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	.	.	.	5.55	5.55	0.83447	.	0.046988	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.856	0.92252	0.0:1.0:0.0:0.0	.	.	.	.	X	171;171;171;177	.	.	E	-	1	0	CA10	47086051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.753000	0.94483	0.655000	0.94253	GAA		0.393	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178	
KIF2B	84643	broad.mit.edu	37	17	51901324	51901324	+	Silent	SNP	G	G	A	rs139246128		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:51901324G>A	ENST00000268919.4	+	1	1086	c.930G>A	c.(928-930)acG>acA	p.T310T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T310T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGGAAGACGTACACCATGG	0.547																																					p.T310T												.	.	1	Substitution - coding silent(1)	urinary_tract(1)	c.G930A	17						.	G		1,4405	2.1+/-5.4	0,1,2202	100.0	93.0	95.0		930	-10.6	0.6	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	KIF2B	NM_032559.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		310/674	51901324	1,13005	2203	4300	6503	49256323	SO:0001819	synonymous_variant	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.930G>A	17.37:g.51901324G>A			49256323	NM_032559	Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	CCDS32685.1																																																																																				0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ZFP3	124961	broad.mit.edu	37	17	4995232	4995232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:4995232G>T	ENST00000318833.3	+	2	769	c.433G>T	c.(433-435)Gaa>Taa	p.E145*		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E145*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TACATGTAAAGAATGTGGGAA	0.378																																					p.E145X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G433T	17						.						57.0	59.0	58.0					17																	4995232		2203	4300	6503	4935956	SO:0001587	stop_gained	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.433G>T	17.37:g.4995232G>T	ENSP00000320347:p.Glu145*		4935956	NM_153018	A5PLL4	Nonsense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	36	5.767061	0.96914	.	.	ENSG00000180787	ENST00000318833	.	.	.	4.07	4.07	0.47477	.	0.000000	0.33813	N	0.004540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9202	14.6278	0.68635	0.0:0.0:1.0:0.0	.	.	.	.	X	145	.	ENSP00000320347:E145X	E	+	1	0	ZFP3	4935956	0.202000	0.23423	1.000000	0.80357	0.956000	0.61745	1.387000	0.34430	2.586000	0.87340	0.551000	0.68910	GAA		0.378	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
USP6	9098	broad.mit.edu	37	17	5033955	5033955	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5033955G>A	ENST00000574788.1	+	11	2361	c.131G>A	c.(130-132)aGc>aAc	p.S44N	USP6_ENST00000250066.6_Missense_Mutation_p.S44N|USP6_ENST00000572429.1_Intron|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.S44N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	44					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.S44N(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATCAACAGCAGCATTGATCGT	0.552			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.S44N			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G131A	17						.						173.0	188.0	183.0					17																	5033955		2203	4300	6503	4974679	SO:0001583	missense	9098	exon3			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.131G>A	17.37:g.5033955G>A	ENSP00000460380:p.Ser44Asn		4974679	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.187|3.187	-0.166597|-0.166597	0.06461|0.06461	.|.	.|.	ENSG00000129204|ENSG00000129204	ENST00000396805|ENST00000332776;ENST00000250066	.|T;T	.|0.27256	.|1.68;1.68	0.0465|0.0465	0.0465|0.0465	0.14256|0.14256	.|.	.|0.058261	.|0.64402	.|D	.|0.000002	T|T	0.04137|0.04137	0.0115|0.0115	N|N	0.00823|0.00823	-1.155|-1.155	0.80722|0.80722	D|D	1|1	.|P;B	.|0.38110	.|0.618;0.347	.|B;B	.|0.23018	.|0.043;0.03	T|T	0.45862|0.45862	-0.9232|-0.9232	5|9	0.66056|0.02654	D|T	0.02|1	.|.	.|.	.|.	.|.	.|.	.|44;44	.|B9A6N0;P35125	.|.;UBP6_HUMAN	T|N	43|44	.|ENSP00000328010:S44N;ENSP00000250066:S44N	ENSP00000380022:A43T|ENSP00000250066:S44N	A|S	+|+	1|2	0|0	USP6|USP6	4974679|4974679	0.965000|0.965000	0.33210|0.33210	0.015000|0.015000	0.15790|0.15790	0.015000|0.015000	0.08874|0.08874	-0.093000|-0.093000	0.11111|0.11111	0.132000|0.132000	0.18615|0.18615	0.134000|0.134000	0.15878|0.15878	GCA|AGC		0.552	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
USP6	9098	broad.mit.edu	37	17	5041528	5041528	+	Silent	SNP	G	G	A	rs148093961		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5041528G>A	ENST00000574788.1	+	21	3268	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	USP6_ENST00000250066.6_Silent_p.T346T|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.T346T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	346					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.T346T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGCCTCTACGAAGAAACTAA	0.587			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.T346T			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1038A	17						.	G		0,4406		0,0,2203	127.0	130.0	129.0		1038	0.9	0.5	17	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP6	NM_004505.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		346/1407	5041528	1,13005	2203	4300	6503	4982252	SO:0001819	synonymous_variant	9098	exon13			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1038G>A	17.37:g.5041528G>A			4982252	NM_004505	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.587	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
USP6	9098	broad.mit.edu	37	17	5073800	5073800	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5073800G>T	ENST00000574788.1	+	36	5774	c.3544G>T	c.(3544-3546)Gga>Tga	p.G1182*	USP6_ENST00000250066.6_Nonsense_Mutation_p.G1182*|USP6_ENST00000304328.5_Nonsense_Mutation_p.G865*|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1182	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.G1182*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGAAAAAGTGGAACCAGCTG	0.512			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.G1182X			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3544T	17						.						16.0	19.0	18.0					17																	5073800		2082	4180	6262	5014524	SO:0001587	stop_gained	9098	exon28			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3544G>T	17.37:g.5073800G>T	ENSP00000460380:p.Gly1182*		5014524	NM_004505	Q15634|Q86WP6|Q8IWT4	Nonsense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	50	17.028295	0.99877	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	.	.	.	2.35	1.34	0.21922	.	0.394655	0.29760	N	0.011264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.7744	0.13171	0.3212:0.0:0.6788:0.0	.	.	.	.	X	1182;865	.	ENSP00000250066:G1182X	G	+	1	0	USP6	5014524	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	2.191000	0.42640	0.323000	0.23307	-1.207000	0.01640	GGA		0.512	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
USP6	9098	broad.mit.edu	37	17	5073936	5073936	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5073936C>T	ENST00000574788.1	+	36	5910	c.3680C>T	c.(3679-3681)gCc>gTc	p.A1227V	USP6_ENST00000250066.6_Missense_Mutation_p.A1227V|USP6_ENST00000304328.5_Missense_Mutation_p.A910V|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1227	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.A1227V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTTGGATGCCAGCAAAGAG	0.582			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.A1227V			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3680T	17						.						29.0	29.0	29.0					17																	5073936		2203	4300	6503	5014660	SO:0001583	missense	9098	exon28			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3680C>T	17.37:g.5073936C>T	ENSP00000460380:p.Ala1227Val		5014660	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348850	0.24426	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.15139	2.86;2.45	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.390787	0.30293	N	0.009950	T	0.13841	0.0335	L	0.29908	0.895	0.24293	N	0.995156	B;P	0.36944	0.274;0.574	B;B	0.42462	0.173;0.388	T	0.09357	-1.0678	10	0.62326	D	0.03	.	6.3704	0.21479	0.2929:0.7071:0.0:0.0	.	910;1227	P35125-2;P35125	.;UBP6_HUMAN	V	1227;910	ENSP00000250066:A1227V;ENSP00000305473:A910V	ENSP00000250066:A1227V	A	+	2	0	USP6	5014660	0.988000	0.35896	1.000000	0.80357	0.227000	0.25037	0.593000	0.23999	1.313000	0.45069	0.184000	0.17185	GCC		0.582	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
ZNF594	84622	broad.mit.edu	37	17	5086290	5086290	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5086290C>A	ENST00000399604.4	-	1	1402	c.1262G>T	c.(1261-1263)aGa>aTa	p.R421I	ZNF594_ENST00000575779.1_Missense_Mutation_p.R421I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	421					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.R421I(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTATGATGTCTCAGAAGGTC	0.403																																					p.R421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262T	17						.						154.0	155.0	155.0					17																	5086290		2024	4220	6244	5027014	SO:0001583	missense	84622	exon2			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1262G>T	17.37:g.5086290C>A	ENSP00000382513:p.Arg421Ile		5027014	NM_032530	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	8.415	0.844997	0.16963	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.26223	1.75	1.97	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	L	0.31926	0.97	0.09310	N	1	B	0.31625	0.332	B	0.32149	0.141	T	0.26849	-1.0091	9	0.21014	T	0.42	.	4.8977	0.13759	0.0:0.4567:0.3659:0.1774	.	421	Q96JF6	ZN594_HUMAN	I	421;16	ENSP00000382513:R421I	ENSP00000373874:R16I	R	-	2	0	ZNF594	5027014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.357000	0.00128	-1.339000	0.02230	-0.499000	0.04595	AGA		0.403	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737	
KIF2B	84643	broad.mit.edu	37	17	51901733	51901733	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:51901733G>T	ENST00000268919.4	+	1	1495	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	447	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D447Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCCCTCGTTGATTTAGCTGG	0.502																																					p.D447Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1339T	17						.						58.0	52.0	54.0					17																	51901733		2203	4300	6503	49256732	SO:0001583	missense	84643	exon1			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1339G>T	17.37:g.51901733G>T	ENSP00000268919:p.Asp447Tyr		49256732	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921413	0.73213	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	D	0.93189	-3.18	5.73	5.73	0.89815	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.47093	D	0.000250	D	0.98501	0.9500	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99301	1.0901	10	0.87932	D	0	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	447	Q8N4N8	KIF2B_HUMAN	Y	447;335	ENSP00000268919:D447Y	ENSP00000268919:D447Y	D	+	1	0	KIF2B	49256732	1.000000	0.71417	0.959000	0.39883	0.770000	0.43624	9.813000	0.99286	2.854000	0.98071	0.655000	0.94253	GAT		0.502	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
STXBP4	252983	broad.mit.edu	37	17	53120674	53120674	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:53120674A>G	ENST00000376352.2	+	11	1140	c.933A>G	c.(931-933)gtA>gtG	p.V311V	STXBP4_ENST00000405898.1_Silent_p.V311V|STXBP4_ENST00000299341.4_Silent_p.V236V|STXBP4_ENST00000398391.2_Silent_p.V236V|STXBP4_ENST00000434978.2_Silent_p.V311V	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	311					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.V311V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGAAAGAAGTAAATACACTTA	0.323																																					p.V311V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A933G	17						.						70.0	67.0	68.0					17																	53120674		2203	4296	6499	50475673	SO:0001819	synonymous_variant	252983	exon11			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.933A>G	17.37:g.53120674A>G			50475673	NM_178509	Q8IVZ5	Silent	SNP	ENST00000376352.2	37	CCDS11584.2																																																																																				0.323	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
HLF	3131	broad.mit.edu	37	17	53392736	53392736	+	Missense_Mutation	SNP	C	C	A	rs371745405		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:53392736C>A	ENST00000226067.5	+	3	1073	c.600C>A	c.(598-600)ttC>ttA	p.F200L	HLF_ENST00000430986.2_Missense_Mutation_p.F115L|HLF_ENST00000573945.1_Missense_Mutation_p.F115L|HLF_ENST00000575345.1_Missense_Mutation_p.F115L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	200	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F200L(1)		large_intestine(1)|ovary(2)	3						AACGCAAGTTCTCTGAGGAAG	0.502			T	TCF3	ALL																																p.F200L			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C600A	17						.						98.0	91.0	94.0					17																	53392736		2203	4300	6503	50747735	SO:0001583	missense	3131	exon3				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.600C>A	17.37:g.53392736C>A	ENSP00000226067:p.Phe200Leu		50747735	NM_002126	A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	C	35	5.537319	0.96460	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	5.6	0.85130	.	0.054481	0.64402	D	0.000001	D	0.83959	0.5367	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.97	D	0.84014	0.0350	9	0.42905	T	0.14	.	18.6178	0.91310	0.0:1.0:0.0:0.0	.	148;200	B4DIQ5;Q16534	.;HLF_HUMAN	L	200;115	.	ENSP00000226067:F200L	F	+	3	2	HLF	50747735	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.070000	0.71220	2.644000	0.89710	0.655000	0.94253	TTC		0.502	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126	
TMEM100	55273	broad.mit.edu	37	17	53798079	53798079	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:53798079C>A	ENST00000575734.1	-	4	1161	c.353G>T	c.(352-354)aGa>aTa	p.R118I	TMEM100_ENST00000424486.2_Missense_Mutation_p.R118I|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	118					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.R118I(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						ACTCTCCCGTCTCTTGGCTTT	0.483																																					p.R118I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353T	17						.						115.0	112.0	113.0					17																	53798079		2203	4300	6503	51153078	SO:0001583	missense	55273	exon2			AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.353G>T	17.37:g.53798079C>A	ENSP00000465638:p.Arg118Ile		51153078	NM_018286	D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055807	0.93793	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81158	-0.1060	9	0.87932	D	0	-9.6555	18.4525	0.90709	0.0:1.0:0.0:0.0	.	118	Q9NV29	TM100_HUMAN	I	118	.	ENSP00000299377:R118I	R	-	2	0	TMEM100	51153078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.462000	0.80851	2.593000	0.87608	0.655000	0.94253	AGA		0.483	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286	
PCTP	58488	broad.mit.edu	37	17	53844698	53844698	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:53844698G>T	ENST00000268896.5	+	2	269	c.144G>T	c.(142-144)aaG>aaT	p.K48N	PCTP_ENST00000573500.1_Missense_Mutation_p.K48N|PCTP_ENST00000325214.6_5'UTR|PCTP_ENST00000576183.1_Missense_Mutation_p.K48N	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	48	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)	p.K48N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTATAGAAGACTGGACTTT	0.393																																					p.K48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G144T	17						.						96.0	93.0	94.0					17																	53844698		2203	4300	6503	51199697	SO:0001583	missense	58488	exon2			AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.144G>T	17.37:g.53844698G>T	ENSP00000268896:p.Lys48Asn		51199697	NM_021213	Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040686	0.19669	.	.	ENSG00000141179	ENST00000268896;ENST00000325214	T	0.39592	1.07	5.64	-8.13	0.01073	Lipid-binding START (3);START-like domain (1);	0.800074	0.11559	N	0.551862	T	0.11623	0.0283	N	0.03608	-0.345	0.24460	N	0.994448	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.007	T	0.21348	-1.0248	10	0.15066	T	0.55	-18.1108	2.4531	0.04523	0.3584:0.2864:0.2588:0.0964	.	48;48	Q549N3;Q9UKL6	.;PPCT_HUMAN	N	48;27	ENSP00000268896:K48N	ENSP00000268896:K48N	K	+	3	2	PCTP	51199697	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.364000	0.07583	-1.327000	0.02264	-0.145000	0.13849	AAG		0.393	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213	
ANKFN1	162282	broad.mit.edu	37	17	54428134	54428134	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:54428134C>T	ENST00000318698.2	+	4	240	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	ANKFN1_ENST00000566473.2_Missense_Mutation_p.R69C	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	69								p.R69C(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TAGGAATTGTCGTGTGAAAAT	0.383																																					p.R69C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	17						.						89.0	89.0	89.0					17																	54428134		2203	4300	6503	51783133	SO:0001583	missense	162282	exon4			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.205C>T	17.37:g.54428134C>T	ENSP00000321627:p.Arg69Cys		51783133	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	c	7.864	0.726604	0.15439	.	.	ENSG00000153930	ENST00000318698	T	0.23348	1.91	5.57	-6.12	0.02124	.	1.490830	0.03541	N	0.223895	T	0.19644	0.0472	L	0.29908	0.895	0.27876	N	0.939853	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	10	0.46703	T	0.11	.	12.1817	0.54216	0.0:0.3146:0.0821:0.6034	.	69	Q8N957	ANKF1_HUMAN	C	69	ENSP00000321627:R69C	ENSP00000321627:R69C	R	+	1	0	ANKFN1	51783133	0.000000	0.05858	0.002000	0.10522	0.547000	0.35210	-1.502000	0.02279	-2.206000	0.00741	-1.739000	0.00688	CGT		0.383	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
ANKFN1	162282	broad.mit.edu	37	17	54554941	54554941	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:54554941C>A	ENST00000318698.2	+	15	1910	c.1875C>A	c.(1873-1875)atC>atA	p.I625I	ANKFN1_ENST00000566473.2_Silent_p.I625I	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	625								p.I625I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGATCAAATCAAAGTTCTTG	0.398																																					p.I625I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1875A	17						.						140.0	135.0	137.0					17																	54554941		2203	4300	6503	51909940	SO:0001819	synonymous_variant	162282	exon15			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1875C>A	17.37:g.54554941C>A			51909940	NM_153228		Silent	SNP	ENST00000318698.2	37	CCDS32686.1																																																																																				0.398	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
DGKE	8526	broad.mit.edu	37	17	54933967	54933967	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:54933967C>A	ENST00000284061.3	+	8	1373	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	398					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.S398Y(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCTCTGTTTTCTAGCAGAATT	0.363																																					p.S398Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1193A	17						.						112.0	100.0	104.0					17																	54933967		2203	4300	6503	52288966	SO:0001583	missense	8526	exon8			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1193C>A	17.37:g.54933967C>A	ENSP00000284061:p.Ser398Tyr		52288966	NM_003647	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649624	0.87958	.	.	ENSG00000153933	ENST00000284061	T	0.30981	1.51	5.69	5.69	0.88448	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.49932	0.1586	L	0.59436	1.845	0.80722	D	1	P;P	0.38167	0.621;0.621	P;P	0.52031	0.688;0.688	T	0.36212	-0.9757	10	0.51188	T	0.08	.	19.8959	0.96958	0.0:1.0:0.0:0.0	.	398;398	A1L4Q0;P52429	.;DGKE_HUMAN	Y	398	ENSP00000284061:S398Y	ENSP00000284061:S398Y	S	+	2	0	DGKE	52288966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.297000	0.59061	2.695000	0.91970	0.632000	0.83419	TCT		0.363	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343																																					p.L428I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1282A	17						.						74.0	70.0	71.0					17																	5302881		2203	4300	6503	5243605	SO:0001583	missense	4927	exon8			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1282C>A	17.37:g.5302881G>T	ENSP00000458954:p.Leu428Ile		5243605	NM_002532	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT		0.343	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	
DGKE	8526	broad.mit.edu	37	17	54939586	54939586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:54939586C>T	ENST00000284061.3	+	11	1678	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	500					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R500*(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TAATCCTTTTCGAATAGGACA	0.393																																					p.R500X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1498T	17						.						85.0	77.0	80.0					17																	54939586		2203	4300	6503	52294585	SO:0001587	stop_gained	8526	exon11			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1498C>T	17.37:g.54939586C>T	ENSP00000284061:p.Arg500*		52294585	NM_003647	Q8TBM4|Q9UKQ3	Nonsense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660062	0.96734	.	.	ENSG00000153933	ENST00000284061	.	.	.	5.36	5.36	0.76844	.	0.056928	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3648	0.66799	0.148:0.852:0.0:0.0	.	.	.	.	X	500	.	ENSP00000284061:R500X	R	+	1	2	DGKE	52294585	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.445000	0.52921	2.661000	0.90470	0.650000	0.86243	CGA		0.393	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
RPAIN	84268	broad.mit.edu	37	17	5331502	5331502	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5331502G>T	ENST00000381209.3	+	6	1171	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000405578.4_Nonsense_Mutation_p.E201*	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	201					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.E201*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						AGGAACAGAAGAAAAGTCCAG	0.483																																					p.E201X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G601T	17						.						110.0	106.0	108.0					17																	5331502		2203	4300	6503	5272226	SO:0001587	stop_gained	84268	exon6			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.601G>T	17.37:g.5331502G>T	ENSP00000370606:p.Glu201*		5272226	NM_001160243	B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Nonsense_Mutation	SNP	ENST00000381209.3	37	CCDS32536.1	.	.	.	.	.	.	.	.	.	.	G	39	7.750864	0.98468	.	.	ENSG00000129197	ENST00000381209;ENST00000405578	.	.	.	4.96	3.99	0.46301	.	0.514246	0.23332	N	0.049331	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-34.3684	12.5083	0.55993	0.0804:0.0:0.9196:0.0	.	.	.	.	X	201	.	ENSP00000370606:E201X	E	+	1	0	RPAIN	5272226	1.000000	0.71417	0.065000	0.19835	0.986000	0.74619	4.119000	0.57891	1.316000	0.45131	0.563000	0.77884	GAA		0.483	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439373.1	NM_001033002	
DHX33	56919	broad.mit.edu	37	17	5352201	5352201	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5352201C>A	ENST00000225296.3	-	11	1943	c.1743G>T	c.(1741-1743)gaG>gaT	p.E581D	DHX33_ENST00000433302.3_Missense_Mutation_p.E357D	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	581					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.E581D(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGACAAAATTCTCTTTGCACC	0.458																																					p.E581D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1743T	17						.						132.0	109.0	117.0					17																	5352201		2203	4300	6503	5292925	SO:0001583	missense	56919	exon11			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1743G>T	17.37:g.5352201C>A	ENSP00000225296:p.Glu581Asp		5292925	NM_020162	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225838	0.39300	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.02579	4.24;4.24	5.18	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	L	0.45698	1.435	0.58432	D	0.999999	B;B	0.31193	0.312;0.004	B;B	0.26693	0.072;0.005	T	0.52571	-0.8558	10	0.33940	T	0.23	.	9.2742	0.37690	0.0:0.8381:0.0:0.1619	.	357;581	Q05BE5;Q9H6R0	.;DHX33_HUMAN	D	581;357	ENSP00000225296:E581D;ENSP00000413779:E357D	ENSP00000225296:E581D	E	-	3	2	DHX33	5292925	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.715000	0.37971	1.430000	0.47334	0.563000	0.77884	GAG		0.458	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162	
MSI2	124540	broad.mit.edu	37	17	55339540	55339540	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:55339540G>A	ENST00000284073.2	+	5	508	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	MSI2_ENST00000322684.3_Missense_Mutation_p.R96Q|MSI2_ENST00000416426.2_Missense_Mutation_p.R78Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	100	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.R96Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TTTCCTCGTCGAGCGCAACCC	0.363			T	HOXA9	CML																																p.R96Q			Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	17						.						105.0	99.0	101.0					17																	55339540		2203	4300	6503	52694539	SO:0001583	missense	124540	exon4			BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.299G>A	17.37:g.55339540G>A	ENSP00000284073:p.Arg100Gln		52694539	NM_170721	Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617229	0.66672	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85484	-1.99;-1.99;-1.99	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.178825	0.34725	N	0.003737	D	0.87783	0.6264	N	0.20445	0.575	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.945;0.999;0.957	D	0.88057	0.2791	10	0.49607	T	0.09	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	78;96;100	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	Q	78;100;96	ENSP00000414671:R78Q;ENSP00000284073:R100Q;ENSP00000313616:R96Q	ENSP00000284073:R100Q	R	+	2	0	MSI2	52694539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.454000	0.90352	2.827000	0.97445	0.650000	0.86243	CGA		0.363	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1		
OR4D1	26689	broad.mit.edu	37	17	56232578	56232578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56232578G>T	ENST00000268912.5	+	1	85	c.64G>T	c.(64-66)Gag>Tag	p.E22*		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	22					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E22*(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACAGACCCAAGAGCTCCAGAA	0.463																																					p.E22X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G64T	17						.						127.0	126.0	126.0					17																	56232578		1943	4157	6100	53587577	SO:0001587	stop_gained	26689	exon1			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.64G>T	17.37:g.56232578G>T	ENSP00000365451:p.Glu22*		53587577	NM_012374	B2RN14|Q8NGB1|Q96R76	Nonsense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.269336	0.80469	.	.	ENSG00000141194	ENST00000268912	.	.	.	5.63	5.63	0.86233	.	0.000000	0.41500	U	0.000877	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.2368	10.5911	0.45310	0.0871:0.0:0.9129:0.0	.	.	.	.	X	22	.	ENSP00000365451:E22X	E	+	1	0	OR4D1	53587577	0.000000	0.05858	0.017000	0.16124	0.836000	0.47400	0.189000	0.17037	2.652000	0.90054	0.543000	0.68304	GAG		0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1		
MKS1	54903	broad.mit.edu	37	17	56283520	56283520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56283520G>A	ENST00000393119.2	-	18	1674	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	MKS1_ENST00000337050.7_Intron|MKS1_ENST00000537529.2_Nonsense_Mutation_p.R524*|MKS1_ENST00000313863.6_3'UTR|MKS1_ENST00000546108.1_Nonsense_Mutation_p.R331*	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	534					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.R534*(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCCGGGCTCGACGGAAGGCC	0.607																																					p.R534X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1600T	17						.						30.0	34.0	33.0					17																	56283520		1900	4112	6012	53638519	SO:0001587	stop_gained	54903	exon18			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1600C>T	17.37:g.56283520G>A	ENSP00000376827:p.Arg534*		53638519	NM_017777	B7WNX4|F5H885|Q284T0|Q96G13	Nonsense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	37	6.307110	0.97462	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	.	.	.	5.35	4.36	0.52297	.	0.055041	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.1465	11.9451	0.52924	0.0:0.0:0.6848:0.3152	.	.	.	.	X	524;534;331	.	ENSP00000376827:R534X	R	-	1	2	MKS1	53638519	1.000000	0.71417	0.858000	0.33744	0.847000	0.48162	2.386000	0.44380	1.430000	0.47334	0.555000	0.69702	CGA		0.607	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
MKS1	54903	broad.mit.edu	37	17	56291699	56291699	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56291699C>A	ENST00000393119.2	-	6	639	c.565G>T	c.(565-567)Gag>Tag	p.E189*	MKS1_ENST00000337050.7_Nonsense_Mutation_p.E189*|MKS1_ENST00000537529.2_Nonsense_Mutation_p.E179*|MKS1_ENST00000313863.6_Nonsense_Mutation_p.E189*|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	189					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.E189*(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACAAACTCTTCTGAGGGC	0.557																																					p.E189X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G565T	17						.						114.0	118.0	117.0					17																	56291699		1998	4156	6154	53646698	SO:0001587	stop_gained	54903	exon6			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.565G>T	17.37:g.56291699C>A	ENSP00000376827:p.Glu189*		53646698	NM_017777	B7WNX4|F5H885|Q284T0|Q96G13	Nonsense_Mutation	SNP	ENST00000393119.2	37	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.114794|5.114794	0.94339|0.94339	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050|ENST00000313863	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.187376|.	0.56097|.	D|.	0.000029|.	.|T	.|0.74619	.|0.3740	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72779	.|-0.4190	.|4	0.66056|.	D|.	0.02|.	-33.2773|-33.2773	18.1989|18.1989	0.89831|0.89831	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	179;189;189;189|189	.|.	ENSP00000338407:E189X|.	E|K	-|-	1|3	0|2	MKS1|MKS1	53646698|53646698	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.324000|0.324000	0.28378|0.28378	7.216000|7.216000	0.77974|0.77974	2.634000|2.634000	0.89283|0.89283	0.549000|0.549000	0.68633|0.68633	GAG|AAG		0.557	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
LPO	4025	broad.mit.edu	37	17	56332201	56332201	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56332201C>T	ENST00000262290.4	+	9	1451	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	LPO_ENST00000582328.1_Silent_p.L296L|LPO_ENST00000543544.1_Silent_p.L320L|LPO_ENST00000421678.2_Silent_p.L296L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	379					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.L379L(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCATATTCTGCTGGCCACATC	0.537																																					p.L379L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1135T	17						.						86.0	85.0	85.0					17																	56332201		2203	4300	6503	53687200	SO:0001819	synonymous_variant	4025	exon9			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1135C>T	17.37:g.56332201C>T			53687200	NM_006151	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																				0.537	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
LPO	4025	broad.mit.edu	37	17	56343597	56343597	+	Missense_Mutation	SNP	C	C	T	rs372987674		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56343597C>T	ENST00000262290.4	+	11	1919	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	LPO_ENST00000582328.1_Missense_Mutation_p.R452C|LPO_ENST00000543544.1_Missense_Mutation_p.R476C|LPO_ENST00000421678.2_Missense_Mutation_p.R452C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.R535C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGAGAGCTGCGCAACAAGCT	0.542																																					p.R535C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1603T	17						.						65.0	57.0	60.0					17																	56343597		2203	4300	6503	53698596	SO:0001583	missense	4025	exon11			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1603C>T	17.37:g.56343597C>T	ENSP00000262290:p.Arg535Cys		53698596	NM_006151	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247312	0.80024	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71461	-0.57;-0.57;-0.57	6.06	4.02	0.46733	.	0.212137	0.46442	D	0.000298	D	0.86707	0.5997	H	0.95079	3.62	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.88063	0.2795	10	0.72032	D	0.01	-18.0602	8.4282	0.32742	0.2712:0.6587:0.0:0.07	.	452;535	E7EMJ3;P22079	.;PERL_HUMAN	C	535;452;476;280	ENSP00000262290:R535C;ENSP00000400245:R452C;ENSP00000445344:R476C	ENSP00000262290:R535C	R	+	1	0	LPO	53698596	1.000000	0.71417	0.937000	0.37676	0.996000	0.88848	2.974000	0.49272	1.572000	0.49736	0.655000	0.94253	CGC		0.542	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
MPO	4353	broad.mit.edu	37	17	56355217	56355217	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56355217C>T	ENST00000225275.3	-	7	1351	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	MPO_ENST00000340482.3_Missense_Mutation_p.R424H|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	392					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R392H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCGCGCTGAGCGGTTGGTGAG	0.627																																					p.R392H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	17						.						62.0	63.0	62.0					17																	56355217		2203	4300	6503	53710216	SO:0001583	missense	4353	exon7				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1175G>A	17.37:g.56355217C>T	ENSP00000225275:p.Arg392His		53710216	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365591	0.41902	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72942	-0.7;-0.7	4.8	3.83	0.44106	.	0.217487	0.38111	N	0.001813	T	0.61110	0.2321	M	0.69823	2.125	0.41243	D	0.98665	P	0.37636	0.603	B	0.22880	0.042	T	0.63752	-0.6566	10	0.46703	T	0.11	-17.1754	8.7245	0.34460	0.0:0.8293:0.0:0.1707	.	392	P05164	PERM_HUMAN	H	424;392	ENSP00000344419:R424H;ENSP00000225275:R392H	ENSP00000225275:R392H	R	-	2	0	MPO	53710216	0.188000	0.23250	0.960000	0.40013	0.676000	0.39594	0.691000	0.25467	1.276000	0.44395	0.561000	0.74099	CGC		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
BZRAP1	9256	broad.mit.edu	37	17	56385076	56385076	+	Missense_Mutation	SNP	C	C	T	rs199511069	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56385076C>T	ENST00000343736.4	-	24	5042	c.4879G>A	c.(4879-4881)Gtc>Atc	p.V1627I	BZRAP1_ENST00000355701.3_Missense_Mutation_p.V1627I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V1567I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1627	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.V1627I(4)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGATCCTGACGGGTAGGTGC	0.587													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21619	0.0		0.001	False		,,,				2504	0.001				p.V1627I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G4879A	17						.						137.0	108.0	118.0					17																	56385076		2203	4300	6503	53740075	SO:0001583	missense	9256	exon24			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4879G>A	17.37:g.56385076C>T	ENSP00000345824:p.Val1627Ile		53740075	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	16.57	3.159670	0.57368	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.29917	1.55;1.55;1.55	5.27	1.08	0.20341	Src homology-3 domain (2);	0.403453	0.26731	N	0.022788	T	0.19725	0.0474	L	0.43152	1.355	0.09310	N	1	B;P;P	0.49358	0.07;0.923;0.85	B;B;B	0.40565	0.005;0.333;0.123	T	0.14364	-1.0475	10	0.27785	T	0.31	.	5.0521	0.14514	0.1369:0.5504:0.0:0.3127	.	1627;1567;1627	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	1627;1627;1567	ENSP00000347929:V1627I;ENSP00000345824:V1627I;ENSP00000268893:V1567I	ENSP00000268893:V1567I	V	-	1	0	BZRAP1	53740075	0.014000	0.17966	0.074000	0.20217	0.951000	0.60555	0.506000	0.22658	0.093000	0.17368	0.655000	0.94253	GTC		0.587	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
BZRAP1	9256	broad.mit.edu	37	17	56386595	56386595	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56386595C>A	ENST00000343736.4	-	22	4201	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1346D|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1286D			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1346	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.E1346D(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGActtctcctcctcct	0.617																																					p.E1346D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4038T	17						.						73.0	74.0	74.0					17																	56386595		2203	4300	6503	53741594	SO:0001583	missense	9256	exon22			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4038G>T	17.37:g.56386595C>A	ENSP00000345824:p.Glu1346Asp		53741594	NM_004758	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	c	5.860	0.342819	0.11069	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.87729	-2.29;-2.29;-2.29	5.48	4.5	0.54988	.	1.302720	0.04976	N	0.464706	T	0.79534	0.4462	L	0.29908	0.895	0.09310	N	1	B;P;P	0.37663	0.18;0.604;0.469	B;B;B	0.33454	0.06;0.164;0.079	T	0.66822	-0.5826	10	0.19147	T	0.46	.	8.7841	0.34809	0.1466:0.776:0.0:0.0774	.	1346;1286;1346	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	D	1346;1346;1286	ENSP00000347929:E1346D;ENSP00000345824:E1346D;ENSP00000268893:E1286D	ENSP00000268893:E1286D	E	-	3	2	BZRAP1	53741594	0.463000	0.25799	0.247000	0.24249	0.227000	0.25037	0.664000	0.25068	2.557000	0.86248	0.558000	0.71614	GAG		0.617	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
RNF43	54894	broad.mit.edu	37	17	56492694	56492694	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56492694A>G	ENST00000584437.1	-	1	2200	c.245T>C	c.(244-246)tTa>tCa	p.L82S	RNF43_ENST00000500597.2_Missense_Mutation_p.L82S|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000583753.1_Missense_Mutation_p.L82S|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.L82S|RNF43_ENST00000407977.2_Missense_Mutation_p.L82S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	82					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L82S(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCTGCATTAATTTTCCTTC	0.383																																					p.L82S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T245C	17						.						59.0	59.0	59.0					17																	56492694		2203	4300	6503	53847693	SO:0001583	missense	54894	exon2				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.245T>C	17.37:g.56492694A>G	ENSP00000463069:p.Leu82Ser		53847693	NM_017763	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392979	0.83011	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.13196	2.66;2.61	5.27	5.27	0.74061	.	0.146689	0.31041	N	0.008365	T	0.23806	0.0576	N	0.19112	0.55	0.40156	D	0.977007	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.07616	-1.0763	10	0.87932	D	0	-14.0466	14.669	0.68929	1.0:0.0:0.0:0.0	.	82;82	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	S	82	ENSP00000385328:L82S;ENSP00000441969:L82S	ENSP00000385328:L82S	L	-	2	0	RNF43	53847693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.322000	0.90000	2.115000	0.64714	0.533000	0.62120	TTA		0.383	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763	
SEPT4	5414	broad.mit.edu	37	17	56598193	56598193	+	Missense_Mutation	SNP	G	G	A	rs147468433		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56598193G>A	ENST00000317268.3	-	11	1464	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SEPT4_ENST00000583114.1_Missense_Mutation_p.R283W|SEPT4_ENST00000412945.3_Missense_Mutation_p.R422W|MTMR4_ENST00000579925.1_5'Flank|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000393086.1_Missense_Mutation_p.R411W|SEPT4_ENST00000457347.2_Missense_Mutation_p.R445W|MTMR4_ENST00000323456.5_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000580844.1_Missense_Mutation_p.R331W|SEPT4_ENST00000317256.6_Missense_Mutation_p.R411W	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	430					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R430W(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCACTTTCCCGAGTCAGTTTG	0.527											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R411W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1231T	17						.	G	TRP/ARG,TRP/ARG,,TRP/ARG	0,4406		0,0,2203	126.0	124.0	124.0		1264,1288,,1231	4.6	1.0	17	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	101,101,,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	422/471,430/479,,411/460	56598193	1,13005	2203	4300	6503	53953192	SO:0001583	missense	5414	exon11			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.1288C>T	17.37:g.56598193G>A	ENSP00000321674:p.Arg430Trp	1016	53953192	NM_080416	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796982	0.16327	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.54675	0.56;0.57;0.56;0.57	5.62	4.62	0.57501	.	0.463918	0.21864	N	0.067998	T	0.68550	0.3013	M	0.75615	2.305	0.49915	D	0.999832	D;D;D;D;D	0.89917	0.992;0.999;0.992;1.0;0.986	P;P;P;D;P	0.64042	0.663;0.855;0.54;0.921;0.453	T	0.72174	-0.4370	10	0.87932	D	0	.	11.537	0.50643	0.0:0.0:0.6634:0.3366	.	422;445;411;283;430	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	W	422;444;411;430;411	ENSP00000414779:R422W;ENSP00000321071:R411W;ENSP00000321674:R430W;ENSP00000376801:R411W	ENSP00000321071:R411W	R	-	1	2	SEPT4	53953192	0.982000	0.34865	1.000000	0.80357	0.996000	0.88848	1.672000	0.37523	1.438000	0.47492	0.655000	0.94253	CGG		0.527	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
SEPT4	5414	broad.mit.edu	37	17	56599412	56599412	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56599412C>T	ENST00000317268.3	-	6	889	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	SEPT4_ENST00000583114.1_Missense_Mutation_p.R91Q|SEPT4_ENST00000412945.3_Missense_Mutation_p.R230Q|SEPT4_ENST00000580809.1_Missense_Mutation_p.R120Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.R139Q|SEPT4_ENST00000393086.1_Missense_Mutation_p.R219Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R253Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.R219Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R139Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.R219Q	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	238	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R238Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTCTCGTCTCGGAAATACTG	0.537																																					p.R219Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G656A	17						.						164.0	136.0	146.0					17																	56599412		2203	4300	6503	53954411	SO:0001583	missense	5414	exon6			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.713G>A	17.37:g.56599412C>T	ENSP00000321674:p.Arg238Gln		53954411	NM_080416	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027098	0.54683	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	L	0.37561	1.115	0.80722	D	1	D;D;P;P;D;B;D	0.89917	1.0;0.999;0.642;0.582;1.0;0.284;1.0	D;D;B;B;D;B;D	0.91635	0.999;0.99;0.107;0.18;0.999;0.175;0.999	T	0.51348	-0.8717	10	0.27785	T	0.31	.	17.7759	0.88508	0.0:1.0:0.0:0.0	.	230;253;91;219;219;91;238	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	Q	230;252;219;238;219;219	ENSP00000414779:R230Q;ENSP00000321071:R219Q;ENSP00000321674:R238Q;ENSP00000376801:R219Q;ENSP00000402348:R219Q	ENSP00000321071:R219Q	R	-	2	0	SEPT4	53954411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	CGA		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
SEPT4	5414	broad.mit.edu	37	17	56604121	56604121	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56604121G>T	ENST00000317268.3	-	2	455	c.279C>A	c.(277-279)ttC>ttA	p.F93L	SEPT4_ENST00000583114.1_De_novo_Start_OutOfFrame|SEPT4_ENST00000412945.3_Missense_Mutation_p.F85L|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000393086.1_Missense_Mutation_p.F74L|SEPT4_ENST00000457347.2_Missense_Mutation_p.F108L|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.F74L|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000317256.6_Missense_Mutation_p.F74L|SEPT4_ENST00000580791.1_5'UTR	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	93					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.F93L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGGCACAGAAGTACTGCT	0.637																																					p.F74L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C222A	17						.						43.0	53.0	50.0					17																	56604121		2203	4300	6503	53959120	SO:0001583	missense	5414	exon2			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.279C>A	17.37:g.56604121G>T	ENSP00000321674:p.Phe93Leu		53959120	NM_080416	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920681	0.33908	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.62639	0.79;0.8;0.79;0.8;0.01	5.01	5.01	0.66863	.	1.717000	0.02704	N	0.112060	T	0.51805	0.1696	N	0.24115	0.695	0.40320	D	0.978811	B;B;P;B;B	0.34462	0.102;0.002;0.454;0.002;0.068	B;B;B;B;B	0.27715	0.033;0.002;0.082;0.002;0.014	T	0.14896	-1.0456	10	0.27082	T	0.32	.	13.8143	0.63281	0.0:0.0:1.0:0.0	.	85;108;74;74;93	O43236-3;O43236-4;O43236-6;O43236-2;O43236	.;.;.;.;SEPT4_HUMAN	L	85;107;74;93;74;74	ENSP00000414779:F85L;ENSP00000321071:F74L;ENSP00000321674:F93L;ENSP00000376801:F74L;ENSP00000402348:F74L	ENSP00000321071:F74L	F	-	3	2	SEPT4	53959120	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.732000	0.55021	2.339000	0.79563	0.561000	0.74099	TTC		0.637	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
C17orf47	284083	broad.mit.edu	37	17	56621430	56621430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56621430G>A	ENST00000321691.3	-	1	299	c.118C>T	c.(118-120)Cga>Tga	p.R40*	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	40								p.R40*(2)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCACTTCGATGGCTTGAG	0.557																																					p.R40X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C118T	17						.						167.0	132.0	144.0					17																	56621430		2203	4300	6503	53976429	SO:0001587	stop_gained	284083	exon1				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.118C>T	17.37:g.56621430G>A	ENSP00000354874:p.Arg40*		53976429	NM_001038704	Q8N821	Nonsense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422539	0.62622	.	.	ENSG00000181013	ENST00000321691	.	.	.	5.41	3.24	0.37175	.	1.170850	0.06312	N	0.702804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.121	11.2029	0.48751	0.0:0.0:0.6725:0.3275	.	.	.	.	X	40	.	ENSP00000354874:R40X	R	-	1	2	C17orf47	53976429	0.001000	0.12720	0.050000	0.19076	0.014000	0.08584	0.643000	0.24750	1.363000	0.46019	0.655000	0.94253	CGA		0.557	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
TEX14	56155	broad.mit.edu	37	17	56638903	56638903	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56638903C>A	ENST00000240361.8	-	30	4358	c.4273G>T	c.(4273-4275)Gac>Tac	p.D1425Y	TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000349033.5_Missense_Mutation_p.D1379Y|TEX14_ENST00000389934.3_Missense_Mutation_p.D1419Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	1425					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.D1425Y(1)|p.D1379Y(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGAAGGTCTTGTAGCTCC	0.478																																					p.D1419Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4255T	17						.						146.0	143.0	144.0					17																	56638903		2203	4300	6503	53993902	SO:0001583	missense	56155	exon30			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4273G>T	17.37:g.56638903C>A	ENSP00000240361:p.Asp1425Tyr		53993902	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.231158	0.22626	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.24350	1.86;1.86;1.86	5.09	4.11	0.48088	.	0.320085	0.26723	N	0.022840	T	0.41719	0.1171	L	0.59436	1.845	0.09310	N	1	D;D;D	0.65815	0.991;0.993;0.995	P;P;D	0.63877	0.832;0.891;0.919	T	0.18335	-1.0340	10	0.87932	D	0	-3.7796	9.7028	0.40198	0.0:0.9055:0.0:0.0945	.	1425;1379;1419	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1425;1419;1379	ENSP00000240361:D1425Y;ENSP00000374584:D1419Y;ENSP00000268910:D1379Y	ENSP00000240361:D1425Y	D	-	1	0	TEX14	53993902	0.898000	0.30612	0.017000	0.16124	0.093000	0.18481	1.697000	0.37784	1.365000	0.46057	0.655000	0.94253	GAC		0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56665319	56665319	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56665319G>T	ENST00000240361.8	-	16	2743	c.2658C>A	c.(2656-2658)ttC>ttA	p.F886L	TEX14_ENST00000349033.5_Missense_Mutation_p.F880L|TEX14_ENST00000389934.3_Missense_Mutation_p.F880L			Q8IWB6	TEX14_HUMAN	testis expressed 14	886					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.F886L(1)|p.F880L(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGACAGAGTGAAGAGTGcac	0.522											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F880L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2640A	17						.						139.0	119.0	126.0					17																	56665319		2203	4300	6503	54020318	SO:0001583	missense	56155	exon16			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2658C>A	17.37:g.56665319G>T	ENSP00000240361:p.Phe886Leu	1017	54020318	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299354	0.23650	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79141	-1.24;-1.24;-1.18	4.22	-2.03	0.07365	.	0.541545	0.19359	N	0.116199	T	0.41926	0.1180	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.42310	-0.9459	10	0.02654	T	1	-0.1717	3.8156	0.08814	0.0982:0.4499:0.2877:0.1642	.	886;880;880	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	L	886;880;880	ENSP00000240361:F886L;ENSP00000374584:F880L;ENSP00000268910:F880L	ENSP00000240361:F886L	F	-	3	2	TEX14	54020318	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.408000	0.07169	-0.265000	0.09352	0.557000	0.71058	TTC		0.522	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56676845	56676845	+	Missense_Mutation	SNP	C	C	T	rs201938572		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56676845C>T	ENST00000240361.8	-	14	1964	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	TEX14_ENST00000349033.5_Missense_Mutation_p.E621K|TEX14_ENST00000389934.3_Missense_Mutation_p.E621K			Q8IWB6	TEX14_HUMAN	testis expressed 14	627					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.E621K(1)|p.E627K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGTTGATTTCGAAACTGCAG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		15295	0.0		0.0	False		,,,				2504	0.001				p.E621K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1861A	17						.	C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	70.0	70.0	70.0		1879,1861,1861	4.8	0.9	17		70	3,8597	3.0+/-9.4	1,1,4298	yes	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	56,56,56	1,2,6500	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	627/1498,621/1452,621/1492	56676845	4,13002	2203	4300	6503	54031844	SO:0001583	missense	56155	exon14			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1879G>A	17.37:g.56676845C>T	ENSP00000240361:p.Glu627Lys		54031844	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049726	0.55218	2.27E-4	3.49E-4	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;D	0.82893	-1.66;-1.65;-1.55	5.75	4.79	0.61399	.	0.163209	0.43416	D	0.000575	D	0.89234	0.6657	M	0.67953	2.075	0.35260	D	0.779497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92724	0.6194	10	0.72032	D	0.01	-11.2081	12.0797	0.53663	0.0:0.9204:0.0:0.0796	.	627;621;621	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	K	627;621;621	ENSP00000240361:E627K;ENSP00000374584:E621K;ENSP00000268910:E621K	ENSP00000240361:E627K	E	-	1	0	TEX14	54031844	0.981000	0.34729	0.896000	0.35187	0.046000	0.14306	2.282000	0.43461	1.458000	0.47871	-0.119000	0.15052	GAA		0.532	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56679251	56679251	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56679251G>T	ENST00000240361.8	-	13	1697	c.1612C>A	c.(1612-1614)Ccc>Acc	p.P538T	TEX14_ENST00000349033.5_Missense_Mutation_p.P532T|TEX14_ENST00000389934.3_Missense_Mutation_p.P532T			Q8IWB6	TEX14_HUMAN	testis expressed 14	538					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.P538T(1)|p.P532T(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGACATCGGGATGGAGTCCG	0.458																																					p.P532T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1594A	17						.						185.0	172.0	176.0					17																	56679251		2203	4300	6503	54034250	SO:0001583	missense	56155	exon13			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1612C>A	17.37:g.56679251G>T	ENSP00000240361:p.Pro538Thr		54034250	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652236	0.67472	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80123	-1.34;-1.34;-1.25	6.04	6.04	0.98038	.	0.093367	0.47852	D	0.000202	D	0.83501	0.5268	L	0.34521	1.04	0.36433	D	0.865029	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.94;0.973;0.973	D	0.84875	0.0827	10	0.41790	T	0.15	-9.9265	13.6935	0.62562	0.0:0.1542:0.8458:0.0	.	538;532;532	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	T	538;532;532	ENSP00000240361:P538T;ENSP00000374584:P532T;ENSP00000268910:P532T	ENSP00000240361:P538T	P	-	1	0	TEX14	54034250	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	0.964000	0.29306	2.873000	0.98535	0.563000	0.77884	CCC		0.458	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56693569	56693569	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56693569G>T	ENST00000240361.8	-	7	837	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	TEX14_ENST00000349033.5_Missense_Mutation_p.S245Y|TEX14_ENST00000389934.3_Missense_Mutation_p.S245Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.S245Y(1)|p.S251Y(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAAGAAAGAGAAGGTGGG	0.502																																					p.S245Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C734A	17						.						95.0	84.0	88.0					17																	56693569		2203	4300	6503	54048568	SO:0001583	missense	56155	exon7			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.752C>A	17.37:g.56693569G>T	ENSP00000240361:p.Ser251Tyr		54048568	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468729	0.84533	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81078	-1.45;-1.44;-1.37	5.46	5.46	0.80206	Protein kinase, catalytic domain (1);	0.092187	0.48286	D	0.000181	D	0.88081	0.6341	L	0.56769	1.78	0.48395	D	0.999641	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.962;0.977;0.983	D	0.88917	0.3363	10	0.87932	D	0	-18.0308	17.8819	0.88843	0.0:0.0:1.0:0.0	.	251;245;245	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	251;245;245	ENSP00000240361:S251Y;ENSP00000374584:S245Y;ENSP00000268910:S245Y	ENSP00000240361:S251Y	S	-	2	0	TEX14	54048568	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.847000	0.75404	2.566000	0.86566	0.655000	0.94253	TCT		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56693650	56693650	+	Missense_Mutation	SNP	G	G	A	rs201712949		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56693650G>A	ENST00000240361.8	-	7	756	c.671C>T	c.(670-672)gCg>gTg	p.A224V	TEX14_ENST00000349033.5_Missense_Mutation_p.A218V|TEX14_ENST00000389934.3_Missense_Mutation_p.A218V			Q8IWB6	TEX14_HUMAN	testis expressed 14	224					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.A218V(1)|p.A224V(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATCTGTGTCGCCCCAGTAAG	0.468																																					p.A218V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C653T	17						.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	81.0	74.0	76.0		671,653,653	2.4	0.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TEX14	NM_001201457.1,NM_031272.4,NM_198393.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	224/1498,218/1452,218/1492	56693650	1,13005	2203	4300	6503	54048649	SO:0001583	missense	56155	exon7			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.671C>T	17.37:g.56693650G>A	ENSP00000240361:p.Ala224Val		54048649	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	6.267	0.417409	0.11870	0.0	1.16E-4	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.79352	-1.25;-1.26;-1.22	5.65	2.43	0.29744	.	0.369495	0.26282	N	0.025274	T	0.52996	0.1769	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27951	0.0;0.195;0.0	B;B;B	0.20577	0.001;0.03;0.001	T	0.31138	-0.9954	10	0.18710	T	0.47	-6.2861	5.0674	0.14589	0.1393:0.4948:0.2903:0.0756	.	224;218;218	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	224;218;218	ENSP00000240361:A224V;ENSP00000374584:A218V;ENSP00000268910:A218V	ENSP00000240361:A224V	A	-	2	0	TEX14	54048649	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-0.135000	0.10420	0.761000	0.33130	-0.821000	0.03111	GCG		0.468	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
TEX14	56155	broad.mit.edu	37	17	56729236	56729236	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:56729236G>T	ENST00000240361.8	-	2	212	c.127C>A	c.(127-129)Ctt>Att	p.L43I	TEX14_ENST00000349033.5_Missense_Mutation_p.L43I|TEX14_ENST00000389934.3_Missense_Mutation_p.L43I			Q8IWB6	TEX14_HUMAN	testis expressed 14	43					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.L43I(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTTTCTTAAGAATTTTCTTC	0.413																																					p.L43I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C127A	17						.						131.0	120.0	124.0					17																	56729236		2203	4300	6503	54084235	SO:0001583	missense	56155	exon2			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.127C>A	17.37:g.56729236G>T	ENSP00000240361:p.Leu43Ile		54084235	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316494	0.81469	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.69685	-0.42;-0.42;-0.42	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.52532	D	0.000063	T	0.73079	0.3541	L	0.31157	0.91	0.33671	D	0.610873	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.83275	0.996;0.993;0.979	T	0.80420	-0.1390	10	0.87932	D	0	-2.6529	14.8872	0.70579	0.0:0.0:1.0:0.0	.	43;43;43	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	43	ENSP00000240361:L43I;ENSP00000374584:L43I;ENSP00000268910:L43I	ENSP00000240361:L43I	L	-	1	0	TEX14	54084235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.714000	0.54889	2.652000	0.90054	0.638000	0.83543	CTT		0.413	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
PPM1E	22843	broad.mit.edu	37	17	57033094	57033094	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57033094C>A	ENST00000308249.2	+	2	678	c.549C>A	c.(547-549)atC>atA	p.I183I		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.I183I(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CACATTATATCCCAAAGGAAA	0.403																																					p.I183I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549A	17						.						119.0	108.0	112.0					17																	57033094		2203	4300	6503	54387876	SO:0001819	synonymous_variant	22843	exon2			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.549C>A	17.37:g.57033094C>A			54387876	NM_014906	Q8N8J9|Q96DB8	Silent	SNP	ENST00000308249.2	37	CCDS11613.1																																																																																				0.403	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906	
TRIM37	4591	broad.mit.edu	37	17	57105781	57105781	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57105781C>T	ENST00000262294.7	-	19	2511	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	TRIM37_ENST00000393066.3_Missense_Mutation_p.R751Q|TRIM37_ENST00000376149.3_Missense_Mutation_p.R629Q|TRIM37_ENST00000393065.2_Missense_Mutation_p.R717Q	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	751					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R751Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACAGTTTCGTATGTAACA	0.398									Mulibrey Nanism																												p.R751Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2252A	17						.						42.0	39.0	40.0					17																	57105781		2203	4300	6503	54460563	SO:0001583	missense	4591	exon19	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2252G>A	17.37:g.57105781C>T	ENSP00000262294:p.Arg751Gln		54460563	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579728	0.86645	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.61	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.44561	0.1299	L	0.32530	0.975	0.48975	D	0.999733	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.978	T	0.44832	-0.9302	10	0.87932	D	0	-7.7252	14.3698	0.66830	0.0:0.9286:0.0:0.0714	.	717;629;751	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Q	751;751;629;717	ENSP00000376785:R751Q;ENSP00000262294:R751Q;ENSP00000365319:R629Q;ENSP00000376784:R717Q	ENSP00000262294:R751Q	R	-	2	0	TRIM37	54460563	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.552000	0.36244	1.371000	0.46172	0.585000	0.79938	CGA		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
SKA2	348235	broad.mit.edu	37	17	57196832	57196832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57196832C>A	ENST00000330137.7	-	3	250	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583380.1_Nonsense_Mutation_p.E49*|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Nonsense_Mutation_p.E20*|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583927.1_Intron	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	49					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.E39*(1)		lung(4)	4						ACTGACAATTCCTTTAAGAGT	0.323																																					p.E49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G145T	17						.						126.0	118.0	120.0					17																	57196832		1810	4077	5887	54551614	SO:0001587	stop_gained	348235	exon3			BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.145G>T	17.37:g.57196832C>A	ENSP00000333433:p.Glu49*		54551614	NM_182620	A6NIL3|B3KPL3|E9PCB8	Nonsense_Mutation	SNP	ENST00000330137.7	37	CCDS45747.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332538	0.41297	.	.	ENSG00000182628	ENST00000330137	.	.	.	5.25	5.25	0.73442	.	0.156556	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.1582	0.54089	0.0:0.8275:0.1725:0.0	.	.	.	.	X	49	.	ENSP00000333433:E49X	E	-	1	0	SKA2	54551614	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.451000	0.35145	2.435000	0.82474	0.467000	0.42956	GAA		0.323	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620	
SMG8	55181	broad.mit.edu	37	17	57288676	57288676	+	Missense_Mutation	SNP	C	C	A	rs147742546		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57288676C>A	ENST00000543872.2	+	2	1528	c.1264C>A	c.(1264-1266)Cta>Ata	p.L422I	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.L422I|SMG8_ENST00000300917.5_Missense_Mutation_p.L422I			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	422					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.L422I(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GGAGCTAGTTCTAAGCAAGAA	0.463																																					p.L422I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1264A	17						.						85.0	80.0	82.0					17																	57288676		2203	4300	6503	54643458	SO:0001583	missense	55181	exon1			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1264C>A	17.37:g.57288676C>A	ENSP00000438748:p.Leu422Ile		54643458	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796785	0.50208	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.61627	0.09;0.09	6.06	2.67	0.31697	.	0.062472	0.64402	D	0.000004	T	0.58680	0.2139	L	0.45581	1.43	0.46542	D	0.999095	D	0.62365	0.991	P	0.54401	0.751	T	0.54009	-0.8357	10	0.40728	T	0.16	-11.3003	9.8086	0.40808	0.0:0.7544:0.0:0.2456	.	422	Q8ND04	SMG8_HUMAN	I	422	ENSP00000300917:L422I;ENSP00000438748:L422I	ENSP00000300917:L422I	L	+	1	2	SMG8	54643458	0.971000	0.33674	0.941000	0.38009	0.875000	0.50365	2.225000	0.42954	0.307000	0.22880	-0.136000	0.14681	CTA		0.463	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
SMG8	55181	broad.mit.edu	37	17	57289009	57289009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57289009C>T	ENST00000543872.2	+	2	1861	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Nonsense_Mutation_p.R533*|SMG8_ENST00000300917.5_Nonsense_Mutation_p.R533*			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	533					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R533*(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCAGGCTCTTCGAGTGTACAG	0.458																																					p.R533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1597T	17						.						86.0	78.0	80.0					17																	57289009		2203	4300	6503	54643791	SO:0001587	stop_gained	55181	exon1			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1597C>T	17.37:g.57289009C>T	ENSP00000438748:p.Arg533*		54643791	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Nonsense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.555064	0.98355	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3897	18.9389	0.92597	0.0:1.0:0.0:0.0	.	.	.	.	X	533	.	ENSP00000300917:R533X	R	+	1	2	SMG8	54643791	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.205000	0.51090	2.705000	0.92388	0.655000	0.94253	CGA		0.458	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
SMG8	55181	broad.mit.edu	37	17	57290205	57290205	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57290205C>T	ENST00000543872.2	+	4	2285	c.2021C>T	c.(2020-2022)tCg>tTg	p.S674L	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.S674L			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	674					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.S674L(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCTCCAGATTCGGATGCTGAT	0.428																																					p.S674L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2021T	17						.						122.0	136.0	131.0					17																	57290205		2203	4300	6503	54644987	SO:0001583	missense	55181	exon3			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2021C>T	17.37:g.57290205C>T	ENSP00000438748:p.Ser674Leu		54644987	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140724	0.37825	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.43294	0.95;0.95	5.82	3.72	0.42706	.	0.467148	0.23664	N	0.045795	T	0.24774	0.0601	N	0.19112	0.55	0.29324	N	0.867136	B	0.18166	0.026	B	0.17433	0.018	T	0.09640	-1.0665	10	0.40728	T	0.16	-1.4329	6.0656	0.19862	0.0:0.5921:0.2403:0.1676	.	674	Q8ND04	SMG8_HUMAN	L	674	ENSP00000300917:S674L;ENSP00000438748:S674L	ENSP00000300917:S674L	S	+	2	0	SMG8	54644987	0.993000	0.37304	0.987000	0.45799	0.924000	0.55760	2.914000	0.48797	1.458000	0.47871	0.655000	0.94253	TCG		0.428	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
CLTC	1213	broad.mit.edu	37	17	57743514	57743514	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57743514C>A	ENST00000269122.3	+	11	1969	c.1695C>A	c.(1693-1695)ttC>ttA	p.F565L	CLTC_ENST00000393043.1_Missense_Mutation_p.F565L|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	565	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.F565L(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTACTGCATTCTTGCTTGATG	0.353			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.F565L			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1695A	17						.						130.0	113.0	119.0					17																	57743514		2203	4300	6503	55098296	SO:0001583	missense	1213	exon11			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1695C>A	17.37:g.57743514C>A	ENSP00000269122:p.Phe565Leu		55098296	NM_004859	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307478	0.81247	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.17528	2.27;2.27	5.53	1.26	0.21427	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.84326	2.69	0.80722	D	1	D;B	0.53619	0.961;0.265	D;B	0.74023	0.982;0.427	T	0.30416	-0.9979	10	0.46703	T	0.11	.	11.7152	0.51647	0.0:0.765:0.0:0.235	.	565;565	Q00610;Q00610-2	CLH1_HUMAN;.	L	565	ENSP00000269122:F565L;ENSP00000376763:F565L	ENSP00000269122:F565L	F	+	3	2	CLTC	55098296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.354000	0.34056	0.386000	0.24997	0.650000	0.86243	TTC		0.353	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
CLTC	1213	broad.mit.edu	37	17	57758369	57758369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57758369G>T	ENST00000269122.3	+	19	3290	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.E1006*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1006	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E1006*(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAACTCATTGAACTGCTGGA	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.E1006X			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3016T	17						.						144.0	140.0	141.0					17																	57758369		2203	4300	6503	55113151	SO:0001587	stop_gained	1213	exon19			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3016G>T	17.37:g.57758369G>T	ENSP00000269122:p.Glu1006*		55113151	NM_004859	D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	43	10.284934	0.99376	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.31	5.31	0.75309	.	0.111416	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.9844	0.92764	0.0:0.0:1.0:0.0	.	.	.	.	X	1006	.	ENSP00000269122:E1006X	E	+	1	0	CLTC	55113151	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.492000	0.84095	0.650000	0.86243	GAA		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
TUBD1	51174	broad.mit.edu	37	17	57952010	57952010	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57952010C>T	ENST00000592426.1	-	5	824	c.824G>A	c.(823-825)cGt>cAt	p.R275H	TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59H|TUBD1_ENST00000394239.3_Missense_Mutation_p.R275H|TUBD1_ENST00000325752.3_Missense_Mutation_p.R275H|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	275					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R275H(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AGGAATGTTACGAACACTCAG	0.368																																					p.R59H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	17						.						188.0	175.0	180.0					17																	57952010		2203	4300	6503	55306792	SO:0001583	missense	51174	exon3			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.824G>A	17.37:g.57952010C>T	ENSP00000468518:p.Arg275His		55306792	NM_001193613	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599450	0.46318	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.78595	-1.19;-0.85	5.62	5.62	0.85841	Tubulin/FtsZ, C-terminal (1);	0.142969	0.64402	D	0.000004	D	0.87759	0.6258	M	0.73962	2.25	0.42692	D	0.993583	D;D	0.76494	0.999;0.96	D;B	0.64595	0.927;0.223	D	0.88626	0.3166	10	0.72032	D	0.01	-15.3713	19.6572	0.95847	0.0:1.0:0.0:0.0	.	275;275	E9PCA7;Q9UJT1	.;TBD_HUMAN	H	275;275;59	ENSP00000320797:R275H;ENSP00000377785:R275H	ENSP00000320797:R275H	R	-	2	0	TUBD1	55306792	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	4.513000	0.60476	2.651000	0.90000	0.563000	0.77884	CGT		0.368	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261	
USP32	84669	broad.mit.edu	37	17	58275693	58275693	+	Missense_Mutation	SNP	G	G	A	rs202121527		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:58275693G>A	ENST00000300896.4	-	27	3556	c.3362C>T	c.(3361-3363)gCg>gTg	p.A1121V	USP32_ENST00000592339.1_Missense_Mutation_p.A791V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1121	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A1121V(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATCCAAACCGCATCATATAG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		19421	0.001		0.0	False		,,,				2504	0.0				p.A1121V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3362T	17						.						176.0	157.0	163.0					17																	58275693		2203	4300	6503	55630475	SO:0001583	missense	84669	exon27			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3362C>T	17.37:g.58275693G>A	ENSP00000300896:p.Ala1121Val		55630475	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.3	4.817706	0.90790	.	.	ENSG00000170832	ENST00000300896	T	0.47177	0.85	5.15	5.15	0.70609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.31926	0.97	0.80722	D	1	D	0.63046	0.992	P	0.55965	0.788	T	0.44159	-0.9346	10	0.26408	T	0.33	.	18.6199	0.91317	0.0:0.0:1.0:0.0	.	1121	Q8NFA0	UBP32_HUMAN	V	1121	ENSP00000300896:A1121V	ENSP00000300896:A1121V	A	-	2	0	USP32	55630475	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	7.963000	0.87922	2.381000	0.81170	0.561000	0.74099	GCG		0.488	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
USP32	84669	broad.mit.edu	37	17	58372050	58372050	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:58372050G>T	ENST00000300896.4	-	4	599	c.405C>A	c.(403-405)ttC>ttA	p.F135L	USP32_ENST00000393003.3_Missense_Mutation_p.F135L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	135					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F135L(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ATACCTCTGAGAAACACTTCC	0.338																																					p.F135L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C405A	17						.						77.0	73.0	74.0					17																	58372050		2203	4300	6503	55726832	SO:0001583	missense	84669	exon4			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.405C>A	17.37:g.58372050G>T	ENSP00000300896:p.Phe135Leu		55726832	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136060	0.56936	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.47869	0.83;0.83	5.6	3.18	0.36537	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.74881	2.28	0.58432	D	0.99999	D;B	0.54964	0.969;0.258	D;B	0.63381	0.914;0.089	T	0.64474	-0.6399	10	0.54805	T	0.06	.	9.9339	0.41539	0.2565:0.0:0.7435:0.0	.	135;135	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	L	135	ENSP00000300896:F135L;ENSP00000376727:F135L	ENSP00000300896:F135L	F	-	3	2	USP32	55726832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.218000	0.51192	1.286000	0.44565	0.591000	0.81541	TTC		0.338	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
APPBP2	10513	broad.mit.edu	37	17	58539195	58539195	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:58539195G>T	ENST00000083182.3	-	8	1199	c.912C>A	c.(910-912)atC>atA	p.I304I	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	304					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.I304I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAGACTGACAGATATTATCTA	0.333																																					p.I304I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912A	17						.						101.0	110.0	107.0					17																	58539195		2203	4299	6502	55893977	SO:0001819	synonymous_variant	10513	exon8			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.912C>A	17.37:g.58539195G>T			55893977	NM_006380	A8K862|O95095|Q8WVC9	Silent	SNP	ENST00000083182.3	37	CCDS32699.1																																																																																				0.333	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380	
BCAS3	54828	broad.mit.edu	37	17	58979988	58979988	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:58979988G>A	ENST00000390652.5	+	11	777	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	BCAS3_ENST00000588874.1_Missense_Mutation_p.R20Q|BCAS3_ENST00000407086.3_Missense_Mutation_p.R249Q|BCAS3_ENST00000585744.1_Missense_Mutation_p.R20Q|BCAS3_ENST00000589222.1_Missense_Mutation_p.R249Q|RN7SL448P_ENST00000475566.2_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.R249Q|BCAS3_ENST00000408905.3_Missense_Mutation_p.R249Q	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.R249Q(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAGTTGATTCGATGTCATCAG	0.428																																					p.R249Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	17						.						201.0	189.0	193.0					17																	58979988		1929	4158	6087	56334770	SO:0001583	missense	54828	exon11			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.746G>A	17.37:g.58979988G>A	ENSP00000375067:p.Arg249Gln		56334770	NM_001099432		Missense_Mutation	SNP	ENST00000390652.5	37	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218681	0.58560	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000405217	T;T;T	0.30714	1.53;1.52;1.52	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.45581	1.43	0.53005	D	0.999967	B;D;D;D	0.69078	0.288;0.997;0.994;0.991	B;D;D;P	0.69479	0.026;0.964;0.921;0.563	T	0.14309	-1.0477	10	0.28530	T	0.3	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	54;249;249;249	Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;BCAS3_HUMAN;.	Q	249;249;249;249;54	ENSP00000375067:R249Q;ENSP00000385323:R249Q;ENSP00000386173:R249Q	ENSP00000375067:R249Q	R	+	2	0	BCAS3	56334770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.452000	0.97615	2.769000	0.95229	0.491000	0.48974	CGA		0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
BCAS3	54828	broad.mit.edu	37	17	59112099	59112099	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:59112099C>T	ENST00000390652.5	+	18	1786	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	BCAS3_ENST00000588874.1_Silent_p.F341F|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000407086.3_Silent_p.F570F|BCAS3_ENST00000585744.1_Silent_p.F356F|BCAS3_ENST00000589222.1_Silent_p.F570F|BCAS3_ENST00000588462.1_Silent_p.F585F|BCAS3_ENST00000408905.3_Silent_p.F570F	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.F585F(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGCTATCTTCGGAACATCCA	0.343																																					p.F585F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1755T	17						.						96.0	91.0	92.0					17																	59112099		1804	4083	5887	56466881	SO:0001819	synonymous_variant	54828	exon18			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1755C>T	17.37:g.59112099C>T			56466881	NM_001099432		Silent	SNP	ENST00000390652.5	37	CCDS45749.1																																																																																				0.343	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679	
TBX4	9496	broad.mit.edu	37	17	59556059	59556059	+	Silent	SNP	C	C	T	rs150224277	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:59556059C>T	ENST00000240335.1	+	5	666	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TBX4_ENST00000393853.4_Silent_p.F207F|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	207					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F207F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACAATGCTTTCGGCTCCAAAA	0.522																																					p.F207F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	17						.	C		1,4405	2.1+/-5.4	0,1,2202	219.0	179.0	193.0		621	0.0	1.0	17	dbSNP_134	193	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TBX4	NM_018488.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		207/546	59556059	3,13003	2203	4300	6503	56910841	SO:0001819	synonymous_variant	9496	exon5			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.621C>T	17.37:g.59556059C>T			56910841	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	ENST00000240335.1	37	CCDS11629.1																																																																																				0.522	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488	
BRIP1	83990	broad.mit.edu	37	17	59763253	59763253	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:59763253T>G	ENST00000259008.2	-	19	3116	c.2849A>C	c.(2848-2850)aAa>aCa	p.K950T	BRIP1_ENST00000577598.1_Missense_Mutation_p.K950T	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	950	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K950T(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GGTAATAATTTTAGGACACTG	0.363			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.K950T		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2849C	17						.						154.0	166.0	162.0					17																	59763253		2203	4300	6503	57118035	SO:0001583	missense	83990	exon19			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2849A>C	17.37:g.59763253T>G	ENSP00000259008:p.Lys950Thr		57118035	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	0.041	-1.284667	0.01398	.	.	ENSG00000136492	ENST00000259008	T	0.74002	-0.8	5.38	0.0837	0.14434	.	2.676840	0.01346	N	0.011755	T	0.53997	0.1831	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43245	-0.9403	9	.	.	.	0.2073	8.3939	0.32544	0.118:0.0:0.462:0.42	.	950;950	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	T	950	ENSP00000259008:K950T	.	K	-	2	0	BRIP1	57118035	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.019000	0.12546	0.305000	0.22832	0.533000	0.62120	AAA		0.363	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
INTS2	57508	broad.mit.edu	37	17	59968949	59968949	+	Silent	SNP	C	C	T	rs578079823		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:59968949C>T	ENST00000444766.3	-	14	1899	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	INTS2_ENST00000251334.6_Silent_p.S600S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	608					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.S608S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GATTAGATTTCGACGCAGGAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		14210	0.0		0.001	False		,,,				2504	0.0				p.S608S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1824A	17						.						133.0	133.0	133.0					17																	59968949		1873	4098	5971	57323731	SO:0001819	synonymous_variant	57508	exon14			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1824G>A	17.37:g.59968949C>T			57323731	NM_020748	Q9ULD3	Silent	SNP	ENST00000444766.3	37	CCDS45750.1																																																																																				0.373	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
INTS2	57508	broad.mit.edu	37	17	59984936	59984936	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:59984936C>T	ENST00000444766.3	-	8	1113	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	INTS2_ENST00000251334.6_Silent_p.E338E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	346					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.E346E(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCCCATCAACTCCAGAAGAA	0.458																																					p.E346E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1038A	17						.						65.0	60.0	62.0					17																	59984936		1917	4123	6040	57339718	SO:0001819	synonymous_variant	57508	exon8			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1038G>A	17.37:g.59984936C>T			57339718	NM_020748	Q9ULD3	Silent	SNP	ENST00000444766.3	37	CCDS45750.1																																																																																				0.458	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
MED13	9969	broad.mit.edu	37	17	60042387	60042387	+	Silent	SNP	C	C	T	rs372390031		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60042387C>T	ENST00000397786.2	-	20	4900	c.4824G>A	c.(4822-4824)ccG>ccA	p.P1608P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1608					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P1608P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCAGGATGCGGCTGAGTGG	0.403																																					p.P1608P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4824A	17						.	C		1,3799		0,1,1899	70.0	67.0	68.0		4824	-0.2	1.0	17		68	0,8270		0,0,4135	no	coding-synonymous	MED13	NM_005121.2		0,1,6034	TT,TC,CC		0.0,0.0263,0.0083		1608/2175	60042387	1,12069	1900	4135	6035	57397169	SO:0001819	synonymous_variant	9969	exon20			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4824G>A	17.37:g.60042387C>T			57397169	NM_005121	B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																				0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60045430	60045430	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60045430T>C	ENST00000397786.2	-	18	4233	c.4157A>G	c.(4156-4158)aAa>aGa	p.K1386R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1386					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K1386R(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAAAAGCTTTTTGCTCCATT	0.348																																					p.K1386R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4157G	17						.						141.0	128.0	132.0					17																	60045430		1839	4095	5934	57400212	SO:0001583	missense	9969	exon18			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4157A>G	17.37:g.60045430T>C	ENSP00000380888:p.Lys1386Arg		57400212	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.295515	0.40594	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.58060	0.36	5.44	4.36	0.52297	.	0.043957	0.85682	N	0.000000	T	0.42154	0.1190	L	0.39147	1.195	0.53688	D	0.999973	B	0.06786	0.001	B	0.08055	0.003	T	0.20706	-1.0267	10	0.35671	T	0.21	-3.6672	10.4773	0.44672	0.0:0.0777:0.0:0.9223	.	1386	Q9UHV7	MED13_HUMAN	R	1386;1385	ENSP00000380888:K1386R	ENSP00000262436:K1385R	K	-	2	0	MED13	57400212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.951000	0.70273	0.903000	0.36546	0.533000	0.62120	AAA		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60061597	60061597	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60061597C>A	ENST00000397786.2	-	15	2899	c.2823G>T	c.(2821-2823)caG>caT	p.Q941H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	941					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Q941H(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGTCCAACTCTGACGGTAAA	0.408																																					p.Q941H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2823T	17						.						125.0	113.0	117.0					17																	60061597		1841	4089	5930	57416379	SO:0001583	missense	9969	exon15			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2823G>T	17.37:g.60061597C>A	ENSP00000380888:p.Gln941His		57416379	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307254	0.60305	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	5.83	3.47	0.39725	.	0.048773	0.85682	D	0.000000	T	0.69672	0.3137	N	0.22421	0.69	0.37208	D	0.904674	D	0.61697	0.99	P	0.53593	0.73	T	0.76876	-0.2797	10	0.87932	D	0	-1.7706	11.2907	0.49247	0.0:0.7818:0.0:0.2182	.	941	Q9UHV7	MED13_HUMAN	H	941;940	ENSP00000380888:Q941H	ENSP00000262436:Q940H	Q	-	3	2	MED13	57416379	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.351000	0.20096	1.448000	0.47680	0.655000	0.94253	CAG		0.408	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
MED13	9969	broad.mit.edu	37	17	60129924	60129924	+	Missense_Mutation	SNP	T	T	G	rs375630135		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60129924T>G	ENST00000397786.2	-	3	520	c.444A>C	c.(442-444)gaA>gaC	p.E148D		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	148					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E148D(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCATCTTTTTCATAAGGCT	0.338																																					p.E148D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A444C	17						.						121.0	117.0	118.0					17																	60129924		1806	4078	5884	57484706	SO:0001583	missense	9969	exon3			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.444A>C	17.37:g.60129924T>G	ENSP00000380888:p.Glu148Asp		57484706	NM_005121	B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780229	0.49891	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.76186	-1.0	5.53	4.45	0.53987	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.56280	1.765	0.51767	D	0.999934	D	0.60160	0.987	P	0.61592	0.891	T	0.74259	-0.3723	10	0.33141	T	0.24	1.6054	6.1318	0.20209	0.0:0.317:0.0:0.683	.	148	Q9UHV7	MED13_HUMAN	D	148;147	ENSP00000380888:E148D	ENSP00000262436:E147D	E	-	3	2	MED13	57484706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.178000	0.42519	1.050000	0.40346	0.533000	0.62120	GAA		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
EFCAB3	146779	broad.mit.edu	37	17	60491173	60491173	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60491173G>T	ENST00000305286.3	+	9	1026	c.948G>T	c.(946-948)aaG>aaT	p.K316N	EFCAB3_ENST00000450662.2_Missense_Mutation_p.K368N	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	316							calcium ion binding (GO:0005509)	p.K316N(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TCAAGAAAAAGCAGACTTGTA	0.363																																					p.K316N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G948T	17						.						100.0	102.0	101.0					17																	60491173		2203	4300	6503	57844905	SO:0001583	missense	146779	exon9			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.948G>T	17.37:g.60491173G>T	ENSP00000302649:p.Lys316Asn		57844905	NM_173503	J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251023	0.39797	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.61510	0.1;0.13	5.05	5.05	0.67936	.	0.231875	0.32190	N	0.006442	T	0.70509	0.3232	M	0.62723	1.935	0.36553	D	0.871956	D	0.76494	0.999	D	0.64144	0.922	T	0.77539	-0.2550	10	0.72032	D	0.01	.	13.767	0.63002	0.0:0.0:1.0:0.0	.	316	Q8N7B9	EFCB3_HUMAN	N	368;316	ENSP00000403932:K368N;ENSP00000302649:K316N	ENSP00000302649:K316N	K	+	3	2	EFCAB3	57844905	0.998000	0.40836	0.473000	0.27253	0.016000	0.09150	4.157000	0.58144	2.625000	0.88918	0.557000	0.71058	AAG		0.363	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503	
TLK2	11011	broad.mit.edu	37	17	60631068	60631068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60631068G>T	ENST00000326270.9	+	9	940	c.672G>T	c.(670-672)aaG>aaT	p.K224N	TLK2_ENST00000343388.7_Missense_Mutation_p.K192N|TLK2_ENST00000542523.1_Missense_Mutation_p.K192N|TLK2_ENST00000346027.5_Missense_Mutation_p.K224N|TLK2_ENST00000582809.1_Missense_Mutation_p.K75N|RP11-464D20.6_ENST00000583426.1_RNA	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	224					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K223N(1)|p.K224N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAACAGTAAGAATTCTGACT	0.299																																					p.K224N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G672T	17						.						54.0	62.0	59.0					17																	60631068		2202	4296	6498	57984800	SO:0001583	missense	11011	exon9			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.672G>T	17.37:g.60631068G>T	ENSP00000316512:p.Lys224Asn		57984800	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	G	10.91	1.483343	0.26598	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.24	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.46741	1.465	0.58432	D	0.999998	D;B;P;P	0.89917	1.0;0.34;0.544;0.609	D;B;B;B	0.87578	0.998;0.112;0.316;0.168	T	0.51560	-0.8690	10	0.36615	T	0.2	.	7.8339	0.29360	0.1901:0.0:0.8099:0.0	.	224;192;224;224	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	N	224;192;224;192	ENSP00000275780:K224N;ENSP00000340800:K192N;ENSP00000316512:K224N;ENSP00000442311:K192N	ENSP00000316512:K224N	K	+	3	2	TLK2	57984800	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.531000	0.45650	1.005000	0.39183	0.460000	0.39030	AAG		0.299	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
TLK2	11011	broad.mit.edu	37	17	60678097	60678097	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60678097C>T	ENST00000326270.9	+	19	1970	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	TLK2_ENST00000343388.7_Missense_Mutation_p.R514W|TLK2_ENST00000542523.1_Missense_Mutation_p.R514W|TLK2_ENST00000346027.5_Missense_Mutation_p.R546W|TLK2_ENST00000582809.1_Missense_Mutation_p.R397W	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R568W(1)|p.R545W(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAAAGAGGCCCGGTCCATTAT	0.358																																					p.R546W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1636T	17						.						83.0	76.0	78.0					17																	60678097		2203	4300	6503	58031829	SO:0001583	missense	11011	exon18			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1702C>T	17.37:g.60678097C>T	ENSP00000316512:p.Arg568Trp		58031829	NM_006852	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37		.	.	.	.	.	.	.	.	.	.	C	14.93	2.682774	0.47991	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.6	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	L	0.53249	1.67	0.80722	D	1	B;P;P;B	0.43431	0.208;0.807;0.683;0.143	B;B;B;B	0.38655	0.075;0.278;0.218;0.083	T	0.06463	-1.0825	10	0.87932	D	0	.	15.6804	0.77364	0.0:0.8635:0.1365:0.0	.	568;514;546;546	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	W	546;514;568;514	ENSP00000275780:R546W;ENSP00000340800:R514W;ENSP00000316512:R568W;ENSP00000442311:R514W	ENSP00000316512:R568W	R	+	1	2	TLK2	58031829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.041000	0.70988	2.636000	0.89361	0.467000	0.42956	CGG		0.358	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
MARCH10	162333	broad.mit.edu	37	17	60865909	60865909	+	Missense_Mutation	SNP	C	C	T	rs371345442		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:60865909C>T	ENST00000311269.5	-	3	416	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MARCH10_ENST00000456609.2_Missense_Mutation_p.D48N|MARCH10_ENST00000544856.2_Missense_Mutation_p.D48N|MARCH10_ENST00000583600.1_Missense_Mutation_p.D48N	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	48					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D48N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTGATCGCGTTTCTTC	0.443																																					p.D48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G142A	17						.	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	142.0	120.0	128.0		142,142	4.2	0.0	17		128	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MARCH10	NM_001100875.1,NM_152598.2	23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	48/809,48/809	60865909	2,13004	2203	4300	6503	58219641	SO:0001583	missense	162333	exon3			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.142G>A	17.37:g.60865909C>T	ENSP00000311496:p.Asp48Asn		58219641	NM_001100875	D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400175	0.25291	0.0	2.33E-4	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.25912	1.77;1.77;1.77	5.2	4.21	0.49690	.	0.342522	0.21152	N	0.079309	T	0.26231	0.0640	M	0.63428	1.95	0.20873	N	0.999835	B;P;B	0.35774	0.384;0.519;0.384	B;B;B	0.33339	0.078;0.162;0.078	T	0.19257	-1.0311	10	0.72032	D	0.01	-5.3846	10.6303	0.45532	0.2113:0.7887:0.0:0.0	.	48;48;48	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	N	48	ENSP00000416177:D48N;ENSP00000311496:D48N;ENSP00000443746:D48N	ENSP00000311496:D48N	D	-	1	0	MARCH10	58219641	0.961000	0.32948	0.030000	0.17652	0.560000	0.35617	2.298000	0.43602	1.116000	0.41820	0.561000	0.74099	GAT		0.443	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
TANC2	26115	broad.mit.edu	37	17	61492995	61492995	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61492995C>A	ENST00000424789.2	+	23	3879	c.3875C>A	c.(3874-3876)tCt>tAt	p.S1292Y	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1302Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1292					in utero embryonic development (GO:0001701)			p.S1302Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTAAAGGTGTCTCTCCTCCTC	0.507																																					p.S1292Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3875A	17						.						90.0	88.0	88.0					17																	61492995		1927	4144	6071	58846727	SO:0001583	missense	26115	exon23			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3875C>A	17.37:g.61492995C>A	ENSP00000387593:p.Ser1292Tyr		58846727	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165426	0.94768	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.74106	-0.81;-0.81	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88503	0.6454	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.976;0.997	D	0.89417	0.3707	10	0.87932	D	0	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	1302;1292	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Y	1302;1292	ENSP00000374171:S1302Y;ENSP00000387593:S1292Y	ENSP00000374171:S1302Y	S	+	2	0	TANC2	58846727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.713000	0.92767	0.655000	0.94253	TCT		0.507	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
KCNH6	81033	broad.mit.edu	37	17	61623144	61623144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61623144G>T	ENST00000583023.1	+	14	2877	c.2866G>T	c.(2866-2868)Gga>Tga	p.G956*	KCNH6_ENST00000314672.5_Nonsense_Mutation_p.G920*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.G867*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.G867*	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	956					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G956*(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGAAGTACAAGGACTCATCTG	0.567																																					p.G956X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2866T	17						.						129.0	118.0	122.0					17																	61623144		2203	4300	6503	58976876	SO:0001587	stop_gained	81033	exon14			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2866G>T	17.37:g.61623144G>T	ENSP00000463533:p.Gly956*		58976876	NM_030779	Q9BRD7	Nonsense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246651	0.95305	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	.	.	.	4.57	3.57	0.40892	.	1.303990	0.05727	U	0.598830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.2402	0.37491	0.0819:0.1473:0.7708:0.0	.	.	.	.	X	956;867	.	ENSP00000318212:G956X	G	+	1	0	KCNH6	58976876	1.000000	0.71417	0.972000	0.41901	0.069000	0.16628	4.268000	0.58883	2.228000	0.72767	0.563000	0.77884	GGA		0.567	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
KCNH6	81033	broad.mit.edu	37	17	61623220	61623220	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61623220G>T	ENST00000583023.1	+	14	2953	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	KCNH6_ENST00000314672.5_Missense_Mutation_p.R945I|KCNH6_ENST00000581784.1_Missense_Mutation_p.R892I|KCNH6_ENST00000456941.2_Missense_Mutation_p.R892I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	981					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R981I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACTTCCAGAGACATGGCTCA	0.542																																					p.R981I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2942T	17						.						88.0	84.0	85.0					17																	61623220		2203	4300	6503	58976952	SO:0001583	missense	81033	exon14			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2942G>T	17.37:g.61623220G>T	ENSP00000463533:p.Arg981Ile		58976952	NM_030779	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420845	0.83559	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99885	-7.5	4.57	3.57	0.40892	.	0.167307	0.37219	U	0.002194	D	0.99782	0.9909	L	0.55481	1.735	0.58432	D	0.999999	B;D;D;D	0.76494	0.067;0.998;0.993;0.999	B;D;P;D	0.83275	0.015;0.991;0.823;0.996	D	0.95936	0.8942	10	0.87932	D	0	.	13.4601	0.61223	0.0805:0.0:0.9195:0.0	.	822;945;892;981	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	I	981;892	ENSP00000396900:R892I	ENSP00000318212:R981I	R	+	2	0	KCNH6	58976952	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.782000	0.75073	2.228000	0.72767	0.563000	0.77884	AGA		0.542	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
CCDC47	57003	broad.mit.edu	37	17	61831816	61831816	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61831816G>T	ENST00000225726.5	-	9	1393	c.1011C>A	c.(1009-1011)ttC>ttA	p.F337L	RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Missense_Mutation_p.F337L|CCDC47_ENST00000582252.1_Missense_Mutation_p.F337L	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	337					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.F337L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGGACCAGAGAACTGGTCTG	0.318																																					p.F337L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1011A	17						.						46.0	48.0	48.0					17																	61831816		2203	4300	6503	59185548	SO:0001583	missense	57003	exon9			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1011C>A	17.37:g.61831816G>T	ENSP00000225726:p.Phe337Leu		59185548	NM_020198	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264734	0.40095	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.95	4.98	0.66077	.	0.042517	0.85682	D	0.000000	T	0.53786	0.1818	L	0.47716	1.5	0.80722	D	1	B;P	0.41420	0.206;0.749	B;B	0.42462	0.164;0.388	T	0.45629	-0.9248	9	0.11485	T	0.65	-9.2168	17.387	0.87418	0.066:0.0:0.934:0.0	.	337;337	Q96A33-2;Q96A33	.;CCD47_HUMAN	L	337	.	ENSP00000225726:F337L	F	-	3	2	CCDC47	59185548	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.331000	0.52075	0.870000	0.35726	-1.119000	0.02030	TTC		0.318	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	
PSMC5	5705	broad.mit.edu	37	17	61907214	61907214	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61907214C>T	ENST00000310144.6	+	4	477	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PSMC5_ENST00000580864.1_Missense_Mutation_p.R49C|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000375812.4_Missense_Mutation_p.R49C|PSMC5_ENST00000581882.1_Missense_Mutation_p.R49C|FTSJ3_ENST00000580295.1_5'UTR	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R57C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CCATCTAGTTCGCCTATTGCG	0.507																																					p.R57C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169T	17						.						65.0	65.0	65.0					17																	61907214		2203	4300	6503	59260946	SO:0001583	missense	5705	exon4			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.169C>T	17.37:g.61907214C>T	ENSP00000310572:p.Arg57Cys		59260946	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689538	0.88735	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.42900	0.96;0.96	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.996;0.999	P;P	0.59643	0.781;0.861	T	0.71836	-0.4472	10	0.87932	D	0	.	11.0663	0.47976	0.1848:0.8152:0.0:0.0	.	49;57	A8K3Z3;P62195	.;PRS8_HUMAN	C	57;49	ENSP00000310572:R57C;ENSP00000364970:R49C	ENSP00000310572:R57C	R	+	1	0	PSMC5	59260946	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.588000	0.60999	2.661000	0.90470	0.655000	0.94253	CGC		0.507	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
PSMC5	5705	broad.mit.edu	37	17	61907721	61907721	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61907721A>G	ENST00000310144.6	+	6	720	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	PSMC5_ENST00000580864.1_Missense_Mutation_p.M130V|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000375812.4_Missense_Mutation_p.M130V|PSMC5_ENST00000581882.1_Missense_Mutation_p.M130V|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	138					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.M138V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGTGTCACTGATGATGGTGGA	0.478																																					p.M138V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A412G	17						.						124.0	114.0	117.0					17																	61907721		2203	4300	6503	59261453	SO:0001583	missense	5705	exon6			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.412A>G	17.37:g.61907721A>G	ENSP00000310572:p.Met138Val		59261453	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824693	0.71143	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.94497	-3.44;-3.42	5.3	5.3	0.74995	.	0.169485	0.64402	D	0.000009	D	0.95953	0.8682	M	0.92122	3.275	0.80722	D	1	P;P	0.50943	0.94;0.94	B;P	0.45856	0.391;0.495	D	0.96567	0.9420	10	0.87932	D	0	.	13.2525	0.60060	1.0:0.0:0.0:0.0	.	130;138	A8K3Z3;P62195	.;PRS8_HUMAN	V	138;130	ENSP00000310572:M138V;ENSP00000364970:M130V	ENSP00000310572:M138V	M	+	1	0	PSMC5	59261453	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	9.070000	0.93974	2.235000	0.73313	0.533000	0.62120	ATG		0.478	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
PSMC5	5705	broad.mit.edu	37	17	61908504	61908504	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61908504C>A	ENST00000310144.6	+	8	1096	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	PSMC5_ENST00000580864.1_Missense_Mutation_p.S255Y|PSMC5_ENST00000375812.4_Missense_Mutation_p.S255Y|PSMC5_ENST00000581882.1_Missense_Mutation_p.S255Y|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	263	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.S263Y(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GAGGGGGGTTCTGGAGGGGAC	0.562																																					p.S263Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788A	17						.						79.0	85.0	83.0					17																	61908504		2203	4300	6503	59262236	SO:0001583	missense	5705	exon8			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.788C>A	17.37:g.61908504C>A	ENSP00000310572:p.Ser263Tyr		59262236	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313069	0.81358	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.93426	-3.22;-3.22	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	L	0.52206	1.635	0.80722	D	1	B;P	0.36909	0.142;0.573	P;P	0.48921	0.467;0.595	D	0.93897	0.7185	10	0.72032	D	0.01	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	255;263	A8K3Z3;P62195	.;PRS8_HUMAN	Y	263;255	ENSP00000310572:S263Y;ENSP00000364970:S255Y	ENSP00000310572:S263Y	S	+	2	0	PSMC5	59262236	1.000000	0.71417	0.948000	0.38648	0.817000	0.46193	5.871000	0.69628	2.937000	0.99478	0.650000	0.86243	TCT		0.562	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
CSH2	1443	broad.mit.edu	37	17	61949543	61949543	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61949543G>A	ENST00000392886.2	-	5	748	c.597C>T	c.(595-597)gtC>gtT	p.V199V	CSH2_ENST00000345366.7_Silent_p.V104V|CSH2_ENST00000560142.1_Silent_p.V142V|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	199						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.V199V(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GGAATGTCTCGACCTTGTCCA	0.572																																					p.V104V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	17						.						137.0	117.0	124.0					17																	61949543		2203	4300	6503	59303275	SO:0001819	synonymous_variant	2689	exon3			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.597C>T	17.37:g.61949543G>A			59303275	NM_022645	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	CCDS42369.1																																																																																				0.572	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991	
WSCD1	23302	broad.mit.edu	37	17	5991352	5991352	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:5991352C>T	ENST00000574946.1	+	3	860	c.470C>T	c.(469-471)aCt>aTt	p.T157I	WSCD1_ENST00000317744.5_Missense_Mutation_p.T157I|WSCD1_ENST00000573634.1_Missense_Mutation_p.T41I|WSCD1_ENST00000574232.1_Missense_Mutation_p.T157I|WSCD1_ENST00000539421.1_Missense_Mutation_p.T157I			Q658N2	WSCD1_HUMAN	WSC domain containing 1	157	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.T157I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CACGAGAGGACTCTGAAAGGA	0.542																																					p.T157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	17						.						172.0	145.0	154.0					17																	5991352		2203	4300	6503	5932076	SO:0001583	missense	23302	exon3				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.470C>T	17.37:g.5991352C>T	ENSP00000460825:p.Thr157Ile		5932076	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477138	0.84640	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.55588	0.51;0.51	5.97	4.95	0.65309	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.174158	0.50627	D	0.000116	T	0.54711	0.1875	L	0.45137	1.4	0.38279	D	0.942371	D	0.54397	0.966	P	0.52856	0.711	T	0.52586	-0.8556	10	0.30854	T	0.27	-20.5437	13.7135	0.62682	0.1547:0.8453:0.0:0.0	.	157	Q658N2	WSCD1_HUMAN	I	157	ENSP00000323087:T157I;ENSP00000446032:T157I	ENSP00000323087:T157I	T	+	2	0	WSCD1	5932076	0.989000	0.36119	0.328000	0.25416	0.978000	0.69477	3.109000	0.50345	2.836000	0.97738	0.655000	0.94253	ACT		0.542	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
GH2	2689	broad.mit.edu	37	17	61958464	61958464	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61958464C>A	ENST00000423893.2	-	3	277	c.216G>T	c.(214-216)caG>caT	p.Q72H	GH2_ENST00000456543.2_Missense_Mutation_p.Q72H|GH2_ENST00000449787.2_Splice_Site|GH2_ENST00000332800.7_Missense_Mutation_p.Q72H			P01242	SOM2_HUMAN	growth hormone 2	72					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.Q72H(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCTGGGGGTTCTGCAGGAATG	0.517																																					p.Q72H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G216T	17						.						198.0	210.0	206.0					17																	61958464		2203	4300	6503	59312196	SO:0001583	missense	2689	exon3			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.216G>T	17.37:g.61958464C>A	ENSP00000409294:p.Gln72His		59312196	NM_022557	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	0.181|0.181	-1.062320|-1.062320	0.01950|0.01950	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000449787|ENST00000332800;ENST00000456543;ENST00000423893	.|D;D;D	.|0.89050	.|-2.46;-2.46;-2.46	3.1|3.1	-0.415|-0.415	0.12355|0.12355	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.164006	.|0.51477	.|D	.|0.000091	.|D	.|0.83036	.|0.5167	N|N	0.17345|0.17345	0.48|0.48	0.28213|0.28213	N|N	0.926848|0.926848	.|B;B;D;B	.|0.76494	.|0.067;0.127;0.999;0.067	.|B;B;D;B	.|0.67548	.|0.07;0.016;0.952;0.07	.|T	.|0.74771	.|-0.3552	.|10	.|0.13853	.|T	.|0.58	.|.	2.888|2.888	0.05667|0.05667	0.1817:0.5303:0.1771:0.1109|0.1817:0.5303:0.1771:0.1109	.|.	.|72;72;72;72	.|P01242;O14644;B1A4H7;B1A4H5	.|SOM2_HUMAN;.;.;.	.|H	-1|72	.|ENSP00000333157:Q72H;ENSP00000394122:Q72H;ENSP00000409294:Q72H	.|ENSP00000333157:Q72H	.|Q	-|-	.|3	.|2	GH2|GH2	59312196|59312196	0.994000|0.994000	0.37717|0.37717	0.143000|0.143000	0.22291|0.22291	0.003000|0.003000	0.03518|0.03518	0.903000|0.903000	0.28475|0.28475	-0.144000|-0.144000	0.11314|0.11314	-0.471000|-0.471000	0.05019|0.05019	.|CAG		0.517	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059	
CSH1	1442	broad.mit.edu	37	17	61973867	61973867	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:61973867G>T	ENST00000316193.8	-	1	146	c.5C>A	c.(4-6)gCt>gAt	p.A2D	CSH1_ENST00000453363.3_Missense_Mutation_p.A2D|CSH1_ENST00000329882.8_Missense_Mutation_p.A2D	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	2						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.A2D(1)		central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTTACCTGGAGCCATTGCCAC	0.597									Russell-Silver syndrome																												p.A2D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5A	17						.						106.0	102.0	103.0					17																	61973867		2201	4300	6501	59327599	SO:0001583	missense	1442	exon1	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.5C>A	17.37:g.61973867G>T	ENSP00000316416:p.Ala2Asp		59327599	NM_001317	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.726853	0.30593	.	.	ENSG00000136488	ENST00000329882;ENST00000316193;ENST00000453363	D;D;D	0.91740	-2.53;-2.48;-2.9	1.9	1.9	0.25705	.	2.137290	0.01794	N	0.032492	D	0.96106	0.8731	M	0.84585	2.705	0.80722	D	1	D;P;P;P	0.64830	0.994;0.726;0.825;0.747	D;B;B;B	0.67725	0.953;0.279;0.367;0.17	D	0.88642	0.3176	10	0.87932	D	0	.	7.3004	0.26418	0.0:0.0:1.0:0.0	.	2;2;2;2	B1A4H2;A6NFB4;Q6PF11;P01243	.;.;.;CSH_HUMAN	D	2	ENSP00000333268:A2D;ENSP00000316416:A2D;ENSP00000402517:A2D	ENSP00000316416:A2D	A	-	2	0	CSH1	59327599	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	1.815000	0.38981	1.360000	0.45960	0.313000	0.20887	GCT		0.597	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317	
SCN4A	6329	broad.mit.edu	37	17	62020211	62020211	+	Silent	SNP	G	G	A	rs267604989		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62020211G>A	ENST00000435607.1	-	23	4339	c.4263C>T	c.(4261-4263)ttC>ttT	p.F1421F	SCN4A_ENST00000578147.1_Silent_p.F1421F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1421					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1421F(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACGACCACGAAGTCAAAGA	0.582																																					p.F1421F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C4263T	17						.						115.0	113.0	114.0					17																	62020211		2198	4295	6493	59373943	SO:0001819	synonymous_variant	6329	exon23			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4263C>T	17.37:g.62020211G>A			59373943	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SCN4A	6329	broad.mit.edu	37	17	62025384	62025384	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62025384G>A	ENST00000435607.1	-	17	3260	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1062C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1062					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1062C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATGGTGCGAATGACTCGC	0.572																																					p.R1062C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3184T	17						.						98.0	98.0	98.0					17																	62025384		2150	4277	6427	59379116	SO:0001583	missense	6329	exon17			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3184C>T	17.37:g.62025384G>A	ENSP00000396320:p.Arg1062Cys		59379116	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012287	0.75046	.	.	ENSG00000007314	ENST00000435607	D	0.97529	-4.42	4.49	3.44	0.39384	.	0.190189	0.41712	D	0.000830	D	0.94666	0.8280	L	0.50993	1.605	0.37781	D	0.927001	D	0.55605	0.972	B	0.42386	0.386	D	0.95375	0.8468	10	0.87932	D	0	.	11.802	0.52133	0.0:0.0:0.7267:0.2733	.	1062	P35499	SCN4A_HUMAN	C	1062	ENSP00000396320:R1062C	ENSP00000396320:R1062C	R	-	1	0	SCN4A	59379116	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.624000	0.67764	2.503000	0.84419	0.455000	0.32223	CGC		0.572	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SCN4A	6329	broad.mit.edu	37	17	62026016	62026016	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62026016G>A	ENST00000435607.1	-	16	3175	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	SCN4A_ENST00000578147.1_Silent_p.F1033F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1033					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1033F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAAGGTCTCGAACCAGTTGT	0.627																																					p.F1033F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3099T	17						.						50.0	53.0	52.0					17																	62026016		2202	4300	6502	59379748	SO:0001819	synonymous_variant	6329	exon16			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3099C>T	17.37:g.62026016G>A			59379748	NM_000334	Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	CCDS45761.1																																																																																				0.627	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
SCN4A	6329	broad.mit.edu	37	17	62034710	62034710	+	Missense_Mutation	SNP	C	C	T	rs113462659		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62034710C>T	ENST00000435607.1	-	13	2264	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M	SCN4A_ENST00000578147.1_Missense_Mutation_p.V730M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	730					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V730M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTTGCACACGCACTCCTTG	0.577																																					p.V730M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2188A	17						.	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	100.0	107.0	104.0		2188	3.9	1.0	17	dbSNP_132	104	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SCN4A	NM_000334.4	21	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	probably-damaging	730/1837	62034710	9,12997	2203	4300	6503	59388442	SO:0001583	missense	6329	exon13			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2188G>A	17.37:g.62034710C>T	ENSP00000396320:p.Val730Met		59388442	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742290	0.69418	2.27E-4	9.3E-4	ENSG00000007314	ENST00000435607	D	0.98550	-4.99	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	M	0.64260	1.97	0.41346	D	0.987338	D	0.76494	0.999	D	0.73380	0.98	D	0.99585	1.0974	10	0.87932	D	0	.	15.018	0.71600	0.0:1.0:0.0:0.0	.	730	P35499	SCN4A_HUMAN	M	730	ENSP00000396320:V730M	ENSP00000396320:V730M	V	-	1	0	SCN4A	59388442	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.811000	0.62606	2.180000	0.69256	0.561000	0.74099	GTG		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
WSCD1	23302	broad.mit.edu	37	17	6012996	6012996	+	Missense_Mutation	SNP	C	C	T	rs138096430		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:6012996C>T	ENST00000574946.1	+	6	1309	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	WSCD1_ENST00000317744.5_Missense_Mutation_p.R307W|WSCD1_ENST00000573634.1_Missense_Mutation_p.R191W|WSCD1_ENST00000574232.1_Missense_Mutation_p.R307W|WSCD1_ENST00000539421.1_Missense_Mutation_p.R307W			Q658N2	WSCD1_HUMAN	WSC domain containing 1	307	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.R307W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTTCAACCTGCGGGATGCCAT	0.577																																					p.R307W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919T	17						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	175.0	161.0	165.0		919	5.6	1.0	17	dbSNP_134	165	2,8598	2.2+/-6.3	0,2,4298	yes	missense	WSCD1	NM_015253.1	101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging	307/576	6012996	3,13003	2203	4300	6503	5953720	SO:0001583	missense	23302	exon6				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.919C>T	17.37:g.6012996C>T	ENSP00000460825:p.Arg307Trp		5953720	NM_015253	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963379	0.53507	2.27E-4	2.33E-4	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.56103	0.48;0.48	5.64	5.64	0.86602	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.549871	0.19528	N	0.112105	T	0.52757	0.1754	L	0.43152	1.355	0.38246	D	0.941463	D	0.59767	0.986	P	0.50537	0.643	T	0.57814	-0.7746	10	0.54805	T	0.06	-15.2864	10.6102	0.45417	0.0:0.9129:0.0:0.0871	.	307	Q658N2	WSCD1_HUMAN	W	307	ENSP00000323087:R307W;ENSP00000446032:R307W	ENSP00000323087:R307W	R	+	1	2	WSCD1	5953720	0.989000	0.36119	0.983000	0.44433	0.295000	0.27426	5.507000	0.66999	2.644000	0.89710	0.557000	0.71058	CGG		0.577	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253	
SCN4A	6329	broad.mit.edu	37	17	62034853	62034853	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62034853G>A	ENST00000435607.1	-	13	2121	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	SCN4A_ENST00000578147.1_Missense_Mutation_p.S682L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	682					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S682L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTTGGCCACGACTTGGCCAG	0.592																																					p.S682L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2045T	17						.						66.0	73.0	71.0					17																	62034853		2145	4254	6399	59388585	SO:0001583	missense	6329	exon13			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2045C>T	17.37:g.62034853G>A	ENSP00000396320:p.Ser682Leu		59388585	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606257	0.87157	.	.	ENSG00000007314	ENST00000435607	D	0.98221	-4.8	3.66	3.66	0.41972	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.91090	3.175	0.58432	D	0.999999	D	0.76494	0.999	D	0.70016	0.967	D	0.99143	1.0856	10	0.72032	D	0.01	.	14.9158	0.70795	0.0:0.0:1.0:0.0	.	682	P35499	SCN4A_HUMAN	L	682	ENSP00000396320:S682L	ENSP00000396320:S682L	S	-	2	0	SCN4A	59388585	1.000000	0.71417	0.943000	0.38184	0.878000	0.50629	9.601000	0.98297	2.062000	0.61559	0.561000	0.74099	TCG		0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
Unknown	0	broad.mit.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																					p.T442I												.	.	0			c.C1325T	17						.																																			59787387	SO:0001628	intergenic_variant	5175	exon7																															Unknown.37:g.0G>A			59787387	NM_000442		Missense_Mutation	SNP		37																																																																																				0	0								
CEP95	90799	broad.mit.edu	37	17	62522265	62522265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62522265G>T	ENST00000556440.2	+	10	1609	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.E203*|CEP95_ENST00000577476.1_3'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	367						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.E367*(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AACAGAACAAGAATTACATGA	0.393																																					p.E367X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1099T	17						.						118.0	112.0	114.0					17																	62522265		1827	4087	5914	59952727	SO:0001587	stop_gained	90799	exon10			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1099G>T	17.37:g.62522265G>T	ENSP00000450461:p.Glu367*		59952727	NM_138363	B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	39	7.420089	0.98272	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.54	4.57	0.56435	.	0.236995	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.5227	11.8528	0.52422	0.0808:0.0:0.9192:0.0	.	.	.	.	X	302;367;203	.	ENSP00000438458:E302X	E	+	1	0	CEP95	59952727	1.000000	0.71417	0.958000	0.39756	0.053000	0.15095	4.731000	0.62022	1.467000	0.48044	0.655000	0.94253	GAA		0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
CEP95	90799	broad.mit.edu	37	17	62533816	62533816	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62533816C>A	ENST00000556440.2	+	20	2895	c.2385C>A	c.(2383-2385)ttC>ttA	p.F795L	CEP95_ENST00000553412.1_Missense_Mutation_p.F631L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	795						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.F795L(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ATGATGTTTTCTTCCGGGAAC	0.453																																					p.F795L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2385A	17						.						64.0	64.0	64.0					17																	62533816		1945	4141	6086	59964278	SO:0001583	missense	90799	exon20			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2385C>A	17.37:g.62533816C>A	ENSP00000450461:p.Phe795Leu		59964278	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410075	0.83340	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50813	0.73;0.77	5.82	4.85	0.62838	.	0.334756	0.36200	N	0.002733	T	0.63105	0.2483	M	0.70595	2.14	0.38191	D	0.939909	D	0.76494	0.999	D	0.69142	0.962	T	0.66995	-0.5782	10	0.44086	T	0.13	-11.3735	9.582	0.39493	0.0:0.8005:0.0:0.1995	.	795	Q96GE4	CEP95_HUMAN	L	730;795;631	ENSP00000450461:F795L;ENSP00000450906:F631L	ENSP00000438458:F730L	F	+	3	2	CEP95	59964278	0.990000	0.36364	1.000000	0.80357	0.982000	0.71751	0.308000	0.19314	1.472000	0.48140	0.462000	0.41574	TTC		0.453	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
LRRC37A3	374819	broad.mit.edu	37	17	62855948	62855948	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:62855948T>G	ENST00000584306.1	-	11	4846	c.4316A>C	c.(4315-4317)aAa>aCa	p.K1439T	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.K1439T|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.K416T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.K557T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.K477T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1439						integral component of membrane (GO:0016021)		p.K1439T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTCAGTTTGTTTAACAGTTGG	0.483																																					p.K1439T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4316C	17						.						28.0	31.0	30.0					17																	62855948		2173	4259	6432	60286410	SO:0001583	missense	374819	exon11			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4316A>C	17.37:g.62855948T>G	ENSP00000464535:p.Lys1439Thr		60286410	NM_199340	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	4.442	0.081865	0.08533	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.60424	1.4;1.4;0.19	1.86	-0.812	0.10853	.	.	.	.	.	T	0.46190	0.1380	L	0.59436	1.845	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.002	T	0.44159	-0.9346	9	0.52906	T	0.07	.	1.7916	0.03053	0.2772:0.1863:0.0:0.5365	.	557;1439	B4DG20;O60309	.;L37A3_HUMAN	T	520;477;416;1439	ENSP00000383674:K477T;ENSP00000335617:K416T;ENSP00000325713:K1439T	ENSP00000325713:K1439T	K	-	2	0	LRRC37A3	60286410	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.095000	0.15127	-0.228000	0.09869	0.155000	0.16302	AAA		0.483	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340	
RGS9	8787	broad.mit.edu	37	17	63223393	63223393	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:63223393C>A	ENST00000262406.9	+	19	1960	c.1893C>A	c.(1891-1893)aaC>aaA	p.N631K	RGS9_ENST00000449996.3_Splice_Site_p.N628K	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	631					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.N631K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCACCTGAAGCTTTTTCCAGA	0.552																																					p.N631K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1893A	17						.						83.0	86.0	85.0					17																	63223393		1985	4165	6150	60653855	SO:0001630	splice_region_variant	8787	exon19			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1893-1C>A	17.37:g.63223393C>A			60653855	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952419	0.53293	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.35789	1.31;1.29	4.81	3.83	0.44106	.	0.111128	0.64402	D	0.000008	T	0.33818	0.0876	L	0.59436	1.845	0.39223	D	0.963537	P;P	0.46142	0.799;0.873	B;B	0.42361	0.214;0.385	T	0.15723	-1.0427	9	.	.	.	.	9.3764	0.38286	0.0:0.8354:0.0:0.1646	.	631;628	O75916;O75916-5	RGS9_HUMAN;.	K	631;628	ENSP00000262406:N631K;ENSP00000396329:N628K	.	N	+	3	2	RGS9	60653855	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.713000	0.37951	2.590000	0.87494	0.561000	0.74099	AAC		0.552	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	Missense_Mutation
AXIN2	8313	broad.mit.edu	37	17	63554176	63554176	+	Missense_Mutation	SNP	T	T	G	rs149000772		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:63554176T>G	ENST00000375702.5	-	1	671	c.563A>C	c.(562-564)cAg>cCg	p.Q188P	AXIN2_ENST00000307078.5_Missense_Mutation_p.Q188P|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	188	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.Q188P(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CAAAAACATCTGGTAGGCATT	0.473									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																												p.Q188P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A563C	17						.						122.0	105.0	111.0					17																	63554176		2203	4300	6503	60984638	SO:0001583	missense	8313	exon2	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.563A>C	17.37:g.63554176T>G	ENSP00000364854:p.Gln188Pro		60984638	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37		.	.	.	.	.	.	.	.	.	.	T	7.456	0.643635	0.14451	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.16897	2.31;2.31	5.07	5.07	0.68467	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.055177	0.85682	D	0.000000	T	0.07908	0.0198	N	0.00335	-1.625	0.58432	D	0.999999	D;B;D	0.76494	0.999;0.0;0.999	D;B;P	0.69307	0.963;0.003;0.869	T	0.49652	-0.8917	10	0.02654	T	1	-28.1659	7.6379	0.28277	0.0:0.1608:0.0:0.8392	.	188;188;188	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	P	188	ENSP00000302625:Q188P;ENSP00000364854:Q188P	ENSP00000302625:Q188P	Q	-	2	0	AXIN2	60984638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.992000	0.56980	1.895000	0.54865	0.374000	0.22700	CAG		0.473	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
CEP112	201134	broad.mit.edu	37	17	64025368	64025368	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:64025368C>T	ENST00000392769.2	-	14	1594	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	CEP112_ENST00000535342.2_Missense_Mutation_p.R459H|CEP112_ENST00000537949.1_Missense_Mutation_p.R417H|CEP112_ENST00000541355.1_Missense_Mutation_p.R94H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	459					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.R459H(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CAGTGTGTTACGCCTAAAAAC	0.279																																					p.R459H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1376A	17						.						158.0	148.0	151.0					17																	64025368		2202	4297	6499	61455830	SO:0001583	missense	201134	exon14			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1376G>A	17.37:g.64025368C>T	ENSP00000376522:p.Arg459His		61455830	NM_001199165	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805616	0.31961	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.55	0.0613	0.14340	.	0.732994	0.13710	N	0.368190	T	0.11024	0.0269	N	0.16478	0.41	0.27426	N	0.954141	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.002;0.003	T	0.35992	-0.9766	10	0.15066	T	0.55	0.5283	10.3727	0.44064	0.0:0.5771:0.0:0.4229	.	417;417;459	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	H	459;459;94;417	ENSP00000442784:R459H;ENSP00000376522:R459H;ENSP00000443711:R94H;ENSP00000440775:R417H	ENSP00000376522:R459H	R	-	2	0	CEP112	61455830	0.000000	0.05858	0.804000	0.32291	0.686000	0.39977	-0.100000	0.10990	0.102000	0.17638	0.655000	0.94253	CGT		0.279	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036	
APOH	350	broad.mit.edu	37	17	64208284	64208284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:64208284C>T	ENST00000205948.6	-	8	1042	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	335	Sushi-like.		W -> S (in allele APOH*3W; loss of phosphatidylserine-binding; dbSNP:rs1801690). {ECO:0000269|PubMed:9063752, ECO:0000269|Ref.8}.		blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.W335*(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CATCAGTTTTCCAAAAAGCCA	0.368																																					p.W335X	Melanoma(155;624 1882 16869 48804 51309)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1005A	17						.						97.0	98.0	97.0					17																	64208284		2203	4300	6503	61638746	SO:0001587	stop_gained	350	exon8				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.1005G>A	17.37:g.64208284C>T	ENSP00000205948:p.Trp335*		61638746	NM_000042	B2R9M3|Q9UCN7	Nonsense_Mutation	SNP	ENST00000205948.6	37	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.345512	0.82022	.	.	ENSG00000091583	ENST00000205948	.	.	.	5.7	5.7	0.88788	.	0.362482	0.30151	N	0.010297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.3453	0.74330	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000205948:W335X	W	-	3	0	APOH	61638746	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.506000	0.53364	2.679000	0.91253	0.555000	0.69702	TGG		0.368	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	C	T	rs367862167		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	179	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)	p.A179A(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCCAAACATCGCATGTTGTG	0.418																																					p.A179A	Melanoma(155;624 1882 16869 48804 51309)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G537A	17						.	C		1,4405	2.1+/-5.4	0,1,2202	173.0	157.0	163.0		537	-10.7	0.0	17		163	0,8600		0,0,4300	no	coding-synonymous	APOH	NM_000042.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		179/346	64216739	1,13005	2203	4300	6503	61647201	SO:0001819	synonymous_variant	350	exon5				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.537G>A	17.37:g.64216739C>T			61647201	NM_000042	B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	CCDS11663.1																																																																																				0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042	
PRKCA	5578	broad.mit.edu	37	17	64637530	64637530	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:64637530G>A	ENST00000413366.3	+	4	372	c.346G>A	c.(346-348)Gat>Aat	p.D116N	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	116					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.D116N(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CACCTTCTGCGATCACTGTGG	0.468																																					p.D116N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	17						.						208.0	173.0	185.0					17																	64637530		2203	4300	6503	62067992	SO:0001583	missense	5578	exon4				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.346G>A	17.37:g.64637530G>A	ENSP00000408695:p.Asp116Asn		62067992	NM_002737	B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.647691	0.96714	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.92965	-3.14	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.95726	0.8770	10	0.72032	D	0.01	.	20.1896	0.98226	0.0:0.0:1.0:0.0	.	116	P17252	KPCA_HUMAN	N	116;23	ENSP00000408695:D116N	ENSP00000284384:D23N	D	+	1	0	PRKCA	62067992	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.333000	0.96459	2.873000	0.98535	0.561000	0.74099	GAT		0.468	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1		
HELZ	9931	broad.mit.edu	37	17	65116685	65116685	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65116685C>T	ENST00000358691.5	-	27	3840	c.3674G>A	c.(3673-3675)cGa>cAa	p.R1225Q	HELZ_ENST00000580168.1_Missense_Mutation_p.R1226Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1225						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1225Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTAATAATTCGAGGATCAAC	0.408																																					p.R1225Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3674A	17						.						171.0	156.0	161.0					17																	65116685		1937	4128	6065	62547147	SO:0001583	missense	9931	exon27			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3674G>A	17.37:g.65116685C>T	ENSP00000351524:p.Arg1225Gln		62547147	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663453	0.67700	.	.	ENSG00000198265	ENST00000358691	D	0.86432	-2.12	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.91686	0.5362	10	0.62326	D	0.03	-12.0924	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1226;1225	B7ZLW2;P42694	.;HELZ_HUMAN	Q	1225	ENSP00000351524:R1225Q	ENSP00000351524:R1225Q	R	-	2	0	HELZ	62547147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.298000	0.78815	2.730000	0.93505	0.655000	0.94253	CGA		0.408	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
HELZ	9931	broad.mit.edu	37	17	65119168	65119168	+	Missense_Mutation	SNP	C	C	A	rs372453784		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65119168C>A	ENST00000358691.5	-	26	3714	c.3548G>T	c.(3547-3549)aGa>aTa	p.R1183I	HELZ_ENST00000580168.1_Missense_Mutation_p.R1184I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1183						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1183I(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATCTATTCTTTGAACAGG	0.433																																					p.R1183I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3548T	17						.						114.0	108.0	110.0					17																	65119168		1855	4085	5940	62549630	SO:0001583	missense	9931	exon26			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3548G>T	17.37:g.65119168C>A	ENSP00000351524:p.Arg1183Ile		62549630	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235343	0.58886	.	.	ENSG00000198265	ENST00000358691	D	0.84298	-1.83	5.5	5.5	0.81552	.	0.091790	0.85682	D	0.000000	D	0.90497	0.7023	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	D	0.90804	0.4696	10	0.72032	D	0.01	-3.376	19.7595	0.96308	0.0:1.0:0.0:0.0	.	1184;1183	B7ZLW2;P42694	.;HELZ_HUMAN	I	1183	ENSP00000351524:R1183I	ENSP00000351524:R1183I	R	-	2	0	HELZ	62549630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.252000	0.78309	2.732000	0.93576	0.650000	0.86243	AGA		0.433	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
HELZ	9931	broad.mit.edu	37	17	65132250	65132250	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65132250C>A	ENST00000358691.5	-	23	3184	c.3018G>T	c.(3016-3018)caG>caT	p.Q1006H	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1007H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1006						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q1006H(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAATTGGTGTCTGTTTATGTT	0.318																																					p.Q1006H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3018T	17						.						94.0	93.0	93.0					17																	65132250		1822	4084	5906	62562712	SO:0001583	missense	9931	exon23			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3018G>T	17.37:g.65132250C>A	ENSP00000351524:p.Gln1006His		62562712	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324361	0.24080	.	.	ENSG00000198265	ENST00000358691	D	0.83755	-1.76	4.94	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.85177	0.5637	L	0.49778	1.585	0.58432	D	0.999996	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.941	D	0.84089	0.0389	10	0.52906	T	0.07	-10.8216	6.4683	0.21993	0.0:0.7777:0.0:0.2223	.	1007;1006	B7ZLW2;P42694	.;HELZ_HUMAN	H	1006	ENSP00000351524:Q1006H	ENSP00000351524:Q1006H	Q	-	3	2	HELZ	62562712	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.576000	0.23744	2.447000	0.82792	0.591000	0.81541	CAG		0.318	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
GLOD4	51031	broad.mit.edu	37	17	680205	680205	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:680205T>G	ENST00000301328.5	-	4	232	c.209A>C	c.(208-210)aAa>aCa	p.K70T	GLOD4_ENST00000536578.1_Missense_Mutation_p.K46T|GLOD4_ENST00000301329.6_Missense_Mutation_p.K55T			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	70						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.K55T(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACCATTGTTTTACTCCATTT	0.448																																					p.K55T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164C	17						.						147.0	125.0	132.0					17																	680205		2203	4300	6503	626955	SO:0001583	missense	51031	exon3			AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.209A>C	17.37:g.680205T>G	ENSP00000301328:p.Lys70Thr		626955	NM_016080	D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37		.	.	.	.	.	.	.	.	.	.	T	27.4	4.823548	0.90873	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.61742	0.08;0.08;0.08	5.45	5.45	0.79879	.	0.045726	0.85682	D	0.000000	T	0.79575	0.4469	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.83602	0.0129	10	0.66056	D	0.02	-14.9622	14.6781	0.68996	0.0:0.0:0.0:1.0	.	46;70;55	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	T	55;258;70;46	ENSP00000301329:K55T;ENSP00000301328:K70T;ENSP00000444315:K46T	ENSP00000301328:K70T	K	-	2	0	GLOD4	626955	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.736000	0.84948	2.060000	0.61445	0.533000	0.62120	AAA		0.448	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080	
HELZ	9931	broad.mit.edu	37	17	65163821	65163821	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65163821A>T	ENST00000358691.5	-	14	1688	c.1522T>A	c.(1522-1524)Ttt>Att	p.F508I	HELZ_ENST00000580168.1_Missense_Mutation_p.F508I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	508						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F508I(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAGCGACCAAAAAGTTGTCCA	0.418																																					p.F508I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1522A	17						.						110.0	98.0	102.0					17																	65163821		1871	4118	5989	62594283	SO:0001583	missense	9931	exon14			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1522T>A	17.37:g.65163821A>T	ENSP00000351524:p.Phe508Ile		62594283	NM_014877	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242010	0.58995	.	.	ENSG00000198265	ENST00000358691	D	0.89485	-2.52	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.92867	0.7731	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.65684	0.88;0.937	D	0.93595	0.6925	10	0.72032	D	0.01	-16.3775	15.2605	0.73617	1.0:0.0:0.0:0.0	.	508;508	B7ZLW2;P42694	.;HELZ_HUMAN	I	508	ENSP00000351524:F508I	ENSP00000351524:F508I	F	-	1	0	HELZ	62594283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.692000	0.91284	2.008000	0.58898	0.533000	0.62120	TTT		0.418	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	
PSMD12	5718	broad.mit.edu	37	17	65343510	65343510	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65343510C>T	ENST00000356126.3	-	6	709	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	PSMD12_ENST00000581618.1_5'Flank|PSMD12_ENST00000357146.4_Missense_Mutation_p.R181Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	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)		p.R201Q(2)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GATTTGTGTTCGAATGTAATC	0.388																																					p.R181Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G542A	17						.						106.0	99.0	102.0					17																	65343510		2203	4300	6503	62773972	SO:0001583	missense	5718	exon5			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.602G>A	17.37:g.65343510C>T	ENSP00000348442:p.Arg201Gln		62773972	NM_174871	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733484	0.69189	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.05925	3.37;3.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	T	0.03166	-1.1065	10	0.14656	T	0.56	-12.0908	20.3151	0.98650	0.0:1.0:0.0:0.0	.	181;201	A6NP15;O00232	.;PSD12_HUMAN	Q	201;181	ENSP00000348442:R201Q;ENSP00000349667:R181Q	ENSP00000348442:R201Q	R	-	2	0	PSMD12	62773972	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.470000	0.80973	2.809000	0.96659	0.467000	0.42956	CGA		0.388	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
PSMD12	5718	broad.mit.edu	37	17	65353481	65353481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65353481C>A	ENST00000356126.3	-	3	342	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Nonsense_Mutation_p.E59*	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	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)		p.E79*(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					AAATCCCATTCTTTAGCCTCA	0.368																																					p.E59X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G175T	17						.						83.0	83.0	83.0					17																	65353481		2203	4300	6503	62783943	SO:0001587	stop_gained	5718	exon2			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.235G>T	17.37:g.65353481C>A	ENSP00000348442:p.Glu79*		62783943	NM_174871	A6NP15|Q53HA2|Q6P053	Nonsense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	36	5.623521	0.96660	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	.	.	.	5.29	5.29	0.74685	.	0.137701	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-14.2275	18.9241	0.92537	0.0:1.0:0.0:0.0	.	.	.	.	X	79;59	.	ENSP00000348442:E79X	E	-	1	0	PSMD12	62783943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	GAA		0.368	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
BPTF	2186	broad.mit.edu	37	17	65871774	65871774	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65871774G>A	ENST00000321892.4	+	5	2028	c.1967G>A	c.(1966-1968)aGc>aAc	p.S656N	BPTF_ENST00000335221.5_Missense_Mutation_p.S656N|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Missense_Mutation_p.S517N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	656	Interaction with KEAP1.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S656N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAGGGAGGAGCCCTGTGGGG	0.532																																					p.S656N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1967A	17						.						71.0	67.0	68.0					17																	65871774		2203	4300	6503	63302236	SO:0001583	missense	2186	exon5			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1967G>A	17.37:g.65871774G>A	ENSP00000315454:p.Ser656Asn		63302236	NM_004459	Q6NX67|Q7Z7D6|Q9UIG2	Intron	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	10.51	1.370805	0.24771	.	.	ENSG00000171634	ENST00000544491;ENST00000335221;ENST00000321892;ENST00000544778	T;T	0.62788	0.0;-0.0	5.47	5.47	0.80525	.	.	.	.	.	T	0.43077	0.1231	N	0.14661	0.345	0.29170	N	0.877227	B;B	0.20887	0.001;0.049	B;B	0.20184	0.003;0.028	T	0.25502	-1.0130	9	0.25751	T	0.34	.	8.7982	0.34892	0.1279:0.0:0.8721:0.0	.	656;656	Q12830;Q12830-4	BPTF_HUMAN;.	N	561;656;656;517	ENSP00000334351:S656N;ENSP00000315454:S656N	ENSP00000315454:S656N	S	+	2	0	BPTF	63302236	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	3.250000	0.51445	2.729000	0.93468	0.467000	0.42956	AGC		0.532	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
BPTF	2186	broad.mit.edu	37	17	65890193	65890193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65890193G>T	ENST00000321892.4	+	9	2894	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.E945*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.E819*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.E806*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	945					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E945*(1)|p.E819*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAACCCAGAGAATTTGCATT	0.378																																					p.E819X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2455T	17						.						144.0	136.0	139.0					17																	65890193		2203	4300	6503	63320655	SO:0001587	stop_gained	2186	exon7			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2833G>T	17.37:g.65890193G>T	ENSP00000315454:p.Glu945*		63320655	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	39	7.493260	0.98319	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.1014	19.5998	0.95557	0.0:0.0:1.0:0.0	.	.	.	.	X	819;945;945;743	.	ENSP00000307208:E819X	E	+	1	0	BPTF	63320655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.734000	0.98822	2.717000	0.92951	0.655000	0.94253	GAA		0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
BPTF	2186	broad.mit.edu	37	17	65907077	65907077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65907077C>A	ENST00000321892.4	+	13	3516	c.3455C>A	c.(3454-3456)tCa>tAa	p.S1152*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.S1152*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.S1026*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.S1013*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1152					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1026*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAACAGAGTCACATGTAAAT	0.378																																					p.S1026X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3077A	17						.						90.0	87.0	88.0					17																	65907077		2203	4300	6503	63337539	SO:0001587	stop_gained	2186	exon11			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3455C>A	17.37:g.65907077C>A	ENSP00000315454:p.Ser1152*		63337539	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	38	7.242543	0.98157	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0044	20.0769	0.97748	0.0:1.0:0.0:0.0	.	.	.	.	X	1026;1152;1152	.	ENSP00000307208:S1026X	S	+	2	0	BPTF	63337539	0.991000	0.36638	0.825000	0.32803	0.349000	0.29174	4.010000	0.57117	2.820000	0.97059	0.650000	0.86243	TCA		0.378	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
BPTF	2186	broad.mit.edu	37	17	65942230	65942230	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:65942230T>G	ENST00000321892.4	+	23	7845	c.7784T>G	c.(7783-7785)cTc>cGc	p.L2595R	BPTF_ENST00000335221.5_Intron|BPTF_ENST00000306378.6_Missense_Mutation_p.L2469R|BPTF_ENST00000424123.3_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2595					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L2469R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAATCAAACTCCAGTTACCT	0.502																																					p.L2469R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7406G	17						.						106.0	94.0	98.0					17																	65942230		2203	4300	6503	63372692	SO:0001583	missense	2186	exon21			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7784T>G	17.37:g.65942230T>G	ENSP00000315454:p.Leu2595Arg		63372692	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	T	10.63	1.403125	0.25291	.	.	ENSG00000171634	ENST00000306378;ENST00000321892	T;T	0.10477	2.87;2.87	5.88	5.88	0.94601	.	.	.	.	.	T	0.28599	0.0708	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10405	-1.0631	9	0.07990	T	0.79	-5.9941	16.2874	0.82727	0.0:0.0:0.0:1.0	.	2469	Q12830-2	.	R	2469;2595	ENSP00000307208:L2469R;ENSP00000315454:L2595R	ENSP00000307208:L2469R	L	+	2	0	BPTF	63372692	1.000000	0.71417	0.952000	0.39060	0.039000	0.13416	5.924000	0.70054	2.248000	0.74166	0.528000	0.53228	CTC		0.502	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
SLC16A6	9120	broad.mit.edu	37	17	66267636	66267636	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66267636G>A	ENST00000327268.4	-	6	829	c.665C>T	c.(664-666)gCg>gTg	p.A222V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A222V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	222					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.A222V(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CATATACTGCGCTTCTTTCCG	0.428																																					p.A222V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C665T	17						.						175.0	168.0	171.0					17																	66267636		2203	4300	6503	63779231	SO:0001583	missense	9120	exon5			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.665C>T	17.37:g.66267636G>A	ENSP00000319991:p.Ala222Val		63779231	NM_004694	Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	G	0.815	-0.750711	0.03041	.	.	ENSG00000108932	ENST00000327268	T	0.58358	0.34	4.59	0.771	0.18504	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	5.200610	0.00424	N	0.000075	T	0.31071	0.0785	N	0.03608	-0.345	0.23859	N	0.996646	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.19590	T	0.45	.	9.3134	0.37919	0.3982:0.0:0.6018:0.0	.	222	O15403	MOT7_HUMAN	V	222	ENSP00000319991:A222V	ENSP00000319991:A222V	A	-	2	0	SLC16A6	63779231	0.026000	0.19158	0.950000	0.38849	0.047000	0.14425	1.249000	0.32839	-0.063000	0.13065	-0.350000	0.07774	GCG		0.428	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	
SLC16A6	9120	broad.mit.edu	37	17	66268787	66268787	+	Silent	SNP	G	G	A	rs143522620	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66268787G>A	ENST00000327268.4	-	5	662	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.F166F	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	166					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F166F(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TACCTGGTGCGAAAGCAAACA	0.443																																					p.F166F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	17						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	173.0	146.0	155.0		498,498,	-0.4	1.0	17	dbSNP_134	155	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous,coding-synonymous,intron	SLC16A6,ARSG	NM_001174166.1,NM_004694.4,NM_014960.3	,,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,,	166/524,166/524,	66268787	9,12997	2203	4300	6503	63780382	SO:0001819	synonymous_variant	9120	exon4			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.498C>T	17.37:g.66268787G>A			63780382	NM_004694	Q6P1X3	Silent	SNP	ENST00000327268.4	37	CCDS11675.1																																																																																				0.443	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	
ARSG	22901	broad.mit.edu	37	17	66366659	66366659	+	Missense_Mutation	SNP	C	C	T	rs144503106	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66366659C>T	ENST00000448504.2	+	8	1772	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.R162C	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	326					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R326C(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGGCAAACTCGTCAAGGTAA	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		18113	0.0		0.0	False		,,,				2504	0.002				p.R326C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976T	17						.						99.0	82.0	87.0					17																	66366659		2203	4300	6503	63878254	SO:0001583	missense	22901	exon8			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.976C>T	17.37:g.66366659C>T	ENSP00000407193:p.Arg326Cys		63878254	NM_014960	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996233	0.35226	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.0	3.97	0.46021	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.826360	0.11156	N	0.593620	T	0.28599	0.0708	N	0.22421	0.69	0.09310	N	1	P	0.40360	0.714	B	0.43575	0.424	T	0.08432	-1.0722	9	0.52906	T	0.07	.	7.5126	0.27583	0.1953:0.6383:0.1664:0.0	.	326	Q96EG1	ARSG_HUMAN	C	326;225	.	ENSP00000407193:R225C	R	+	1	0	ARSG	63878254	0.000000	0.05858	0.018000	0.16275	0.037000	0.13140	0.480000	0.22244	2.596000	0.87737	0.561000	0.74099	CGT		0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
WIPI1	55062	broad.mit.edu	37	17	66447016	66447016	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66447016G>A	ENST00000262139.5	-	3	185	c.186C>T	c.(184-186)atC>atT	p.I62I	WIPI1_ENST00000546360.1_5'UTR|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	62					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.I62I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGCGCTCCACGATGTAGACGT	0.527																																					p.I62I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C186T	17						.						111.0	99.0	103.0					17																	66447016		2203	4300	6503	63958611	SO:0001819	synonymous_variant	55062	exon3				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.186C>T	17.37:g.66447016G>A			63958611	NM_017983	Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	CCDS11677.1																																																																																				0.527	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983	
PRKAR1A	5573	broad.mit.edu	37	17	66519878	66519878	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66519878G>T	ENST00000589228.1	+	4	489	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.D121Y|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.D121Y|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.D121Y|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.D121Y|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.D121Y	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	121	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.D121Y(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TATACCAAAAGATTACAAGAC	0.373			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.D121Y	Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361T	17						.						89.0	88.0	88.0					17																	66519878		2203	4300	6503	64031473	SO:0001583	missense	5573	exon4	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.361G>T	17.37:g.66519878G>T	ENSP00000464977:p.Asp121Tyr		64031473	NM_212472	K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269439	0.95429	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.84516	-1.86;-1.86;-1.86	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93125	0.7811	M	0.85859	2.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.63703	0.917;0.917	D	0.93017	0.6437	10	0.72032	D	0.01	-43.5625	20.6647	0.99678	0.0:0.0:1.0:0.0	.	121;121	B2R5T5;P10644	.;KAP0_HUMAN	Y	121	ENSP00000351410:D121Y;ENSP00000376475:D121Y;ENSP00000445625:D121Y	ENSP00000351410:D121Y	D	+	1	0	PRKAR1A	64031473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GAT		0.373	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
PRKAR1A	5573	broad.mit.edu	37	17	66526418	66526418	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66526418G>T	ENST00000589228.1	+	11	1102	c.974G>T	c.(973-975)gGt>gTt	p.G325V	PRKAR1A_ENST00000358598.2_Splice_Site_p.G325V|PRKAR1A_ENST00000536854.2_Splice_Site_p.G325V|PRKAR1A_ENST00000392711.1_Splice_Site_p.G325V|PRKAR1A_ENST00000586397.1_Splice_Site_p.G325V|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	325					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.G325V(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTTTCTCCAGGTGAAATTGCA	0.438			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.G325V	Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974T	17						.						187.0	168.0	175.0					17																	66526418		2203	4300	6503	64038013	SO:0001630	splice_region_variant	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.974-1G>T	17.37:g.66526418G>T			64038013	NM_212472	K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227825	0.79576	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.98207	-4.79;-4.79;-4.79	5.9	5.9	0.94986	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97860	1.0280	9	.	.	.	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	325	P10644	KAP0_HUMAN	V	325	ENSP00000351410:G325V;ENSP00000376475:G325V;ENSP00000445625:G325V	.	G	+	2	0	PRKAR1A	64038013	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	GGT		0.438	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		Missense_Mutation
PRKAR1A	5573	broad.mit.edu	37	17	66526547	66526547	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66526547G>A	ENST00000589228.1	+	11	1231	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R368Q|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R368Q|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R368Q|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R368Q|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	368					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.R368Q(1)		adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ATCCTCAAACGAAACATCCAG	0.512			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												p.R368Q	Ovarian(167;637 1670 33025 39608 46699 51856)	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1103A	17						.						213.0	167.0	183.0					17																	66526547		2203	4300	6503	64038142	SO:0001583	missense	5573	exon11	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.1103G>A	17.37:g.66526547G>A	ENSP00000464977:p.Arg368Gln		64038142	NM_212472	K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	35	5.591461	0.96590	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.88586	-2.4;-2.4;-2.4	5.63	5.63	0.86233	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.137882	0.47093	D	0.000249	D	0.96015	0.8702	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.96549	0.9406	10	0.87932	D	0	-16.1203	19.6895	0.95993	0.0:0.0:1.0:0.0	.	368	P10644	KAP0_HUMAN	Q	368	ENSP00000351410:R368Q;ENSP00000376475:R368Q;ENSP00000445625:R368Q	ENSP00000351410:R368Q	R	+	2	0	PRKAR1A	64038142	1.000000	0.71417	0.933000	0.37362	0.992000	0.81027	9.825000	0.99386	2.644000	0.89710	0.591000	0.81541	CGA		0.512	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
ABCA8	10351	broad.mit.edu	37	17	66883513	66883513	+	Silent	SNP	G	G	A	rs201100712	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66883513G>A	ENST00000269080.2	-	23	3296	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	ABCA8_ENST00000586539.1_Silent_p.F1093F|ABCA8_ENST00000430352.2_Silent_p.F1093F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1053					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F1053F(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCATGTCTTCGAAGTTTGAAA	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		18138	0.002		0.0	False		,,,				2504	0.0				p.F1053F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3159T	17						.						76.0	84.0	81.0					17																	66883513		2203	4300	6503	64395108	SO:0001819	synonymous_variant	10351	exon23			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3159C>T	17.37:g.66883513G>A			64395108	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																				0.343	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66887690	66887690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66887690C>T	ENST00000269080.2	-	22	3101	c.2964G>A	c.(2962-2964)tgG>tgA	p.W988*	ABCA8_ENST00000586539.1_Nonsense_Mutation_p.W1028*|ABCA8_ENST00000430352.2_Nonsense_Mutation_p.W1028*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	988					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.W988*(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTAAAACCAGCCAGAACATGA	0.348																																					p.W988X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2964A	17						.						126.0	108.0	114.0					17																	66887690		2203	4300	6503	64399285	SO:0001587	stop_gained	10351	exon22			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2964G>A	17.37:g.66887690C>T	ENSP00000269080:p.Trp988*		64399285	NM_007168	A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	38	7.082305	0.98051	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.66	3.69	0.42338	.	0.145894	0.32343	N	0.006228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	6.3484	0.21363	0.0:0.806:0.0:0.194	.	.	.	.	X	988;1028;967	.	ENSP00000269080:W988X	W	-	3	0	ABCA8	64399285	0.001000	0.12720	0.278000	0.24718	0.028000	0.11728	0.376000	0.20535	2.574000	0.86865	0.650000	0.86243	TGG		0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66890330	66890330	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66890330C>A	ENST00000269080.2	-	21	3037	c.2900G>T	c.(2899-2901)aGa>aTa	p.R967I	ABCA8_ENST00000586539.1_Missense_Mutation_p.R1007I|ABCA8_ENST00000430352.2_Missense_Mutation_p.R1007I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	967					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R967I(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAATGTACTTCTTTCAGTTCG	0.368																																					p.R967I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2900T	17						.						62.0	60.0	60.0					17																	66890330		2202	4299	6501	64401925	SO:0001583	missense	10351	exon21			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2900G>T	17.37:g.66890330C>A	ENSP00000269080:p.Arg967Ile		64401925	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790044	0.70337	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87256	-2.23;-2.23	5.08	5.08	0.68730	.	0.384615	0.22878	N	0.054541	D	0.92886	0.7737	M	0.81942	2.565	0.36536	D	0.870999	D;D;D;P;D	0.61697	0.987;0.99;0.978;0.946;0.979	D;D;P;P;D	0.69142	0.921;0.962;0.864;0.847;0.936	D	0.94429	0.7648	10	0.56958	D	0.05	.	14.1648	0.65469	0.0:1.0:0.0:0.0	.	946;1007;1007;1007;967	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	967;1007;946	ENSP00000269080:R967I;ENSP00000402814:R1007I	ENSP00000269080:R967I	R	-	2	0	ABCA8	64401925	0.001000	0.12720	0.339000	0.25562	0.026000	0.11368	0.759000	0.26461	2.801000	0.96364	0.655000	0.94253	AGA		0.368	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66903886	66903886	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66903886A>C	ENST00000269080.2	-	16	2290	c.2153T>G	c.(2152-2154)tTt>tGt	p.F718C	ABCA8_ENST00000586539.1_Missense_Mutation_p.F758C|ABCA8_ENST00000430352.2_Missense_Mutation_p.F758C	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	718					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.F718C(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATTACCTGGAAATTTATTTGT	0.294																																					p.F718C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2153G	17						.						123.0	117.0	119.0					17																	66903886		2202	4297	6499	64415481	SO:0001583	missense	10351	exon16			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2153T>G	17.37:g.66903886A>C	ENSP00000269080:p.Phe718Cys		64415481	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769893	0.69992	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.90563	-2.69;-2.69	4.9	4.9	0.64082	.	0.000000	0.50627	D	0.000118	D	0.96950	0.9004	H	0.97291	3.975	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0	D	0.98136	1.0433	10	0.87932	D	0	.	13.8531	0.63510	1.0:0.0:0.0:0.0	.	697;758;758;758;718	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	C	718;758;697	ENSP00000269080:F718C;ENSP00000402814:F758C	ENSP00000269080:F718C	F	-	2	0	ABCA8	64415481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.731000	0.74785	2.057000	0.61298	0.533000	0.62120	TTT		0.294	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66925340	66925340	+	Missense_Mutation	SNP	C	C	A	rs143207789		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66925340C>A	ENST00000269080.2	-	8	1112	c.975G>T	c.(973-975)aaG>aaT	p.K325N	ABCA8_ENST00000586539.1_Missense_Mutation_p.K325N|ABCA8_ENST00000430352.2_Missense_Mutation_p.K325N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	325					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.K325N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGAAAGATTTCTTTACCAAGA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17482	0.0		0.0	False		,,,				2504	0.0				p.K325N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G975T	17						.	C	ASN/LYS	3,4403	6.2+/-15.9	0,3,2200	68.0	56.0	60.0		975	4.7	1.0	17	dbSNP_134	60	0,8600		0,0,4300	no	missense	ABCA8	NM_007168.2	94	0,3,6500	AA,AC,CC		0.0,0.0681,0.0231	probably-damaging	325/1582	66925340	3,13003	2203	4300	6503	64436935	SO:0001583	missense	10351	exon8			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.975G>T	17.37:g.66925340C>A	ENSP00000269080:p.Lys325Asn		64436935	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.33	3.599315	0.66332	6.81E-4	0.0	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.84873	-1.91;-1.91	4.67	4.67	0.58626	.	0.229117	0.30492	N	0.009507	D	0.90553	0.7039	M	0.84082	2.675	0.33150	D	0.545507	D;D;B;D;D	0.67145	0.995;0.996;0.099;0.989;0.996	D;D;B;D;D	0.72625	0.962;0.965;0.098;0.972;0.978	D	0.89242	0.3584	10	0.13470	T	0.59	.	11.1047	0.48197	0.0:0.9093:0.0:0.0907	.	264;325;325;325;325	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	N	325;325;264	ENSP00000269080:K325N;ENSP00000402814:K325N	ENSP00000269080:K325N	K	-	3	2	ABCA8	64436935	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	0.843000	0.27640	2.592000	0.87571	0.655000	0.94253	AAG		0.418	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA9	10350	broad.mit.edu	37	17	66978729	66978729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:66978729G>T	ENST00000340001.4	-	37	4905	c.4694C>A	c.(4693-4695)tCa>tAa	p.S1565*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.S1527*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1565					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1565*(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAAAGCCTGTGATAAAGGTCG	0.423																																					p.S1565X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4694A	17						.						138.0	133.0	134.0					17																	66978729		2203	4300	6503	64490324	SO:0001587	stop_gained	10350	exon37			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4694C>A	17.37:g.66978729G>T	ENSP00000342216:p.Ser1565*		64490324	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	43	10.465212	0.99410	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	.	.	.	4.9	4.9	0.64082	.	0.000000	0.39210	N	0.001439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0308	0.86460	0.0:0.0:1.0:0.0	.	.	.	.	X	1565;1510	.	ENSP00000342216:S1565X	S	-	2	0	ABCA9	64490324	1.000000	0.71417	0.437000	0.26809	0.992000	0.81027	8.313000	0.89978	2.418000	0.82041	0.609000	0.83330	TCA		0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	67012444	67012444	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67012444T>G	ENST00000340001.4	-	22	3200	c.2989A>C	c.(2989-2991)Att>Ctt	p.I997L	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I997L|ABCA9_ENST00000453985.2_Missense_Mutation_p.I997L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	997					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I997L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAATTAAAAATTCCAAGTAGT	0.338																																					p.I997L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2989C	17						.						111.0	110.0	110.0					17																	67012444		2203	4300	6503	64524039	SO:0001583	missense	10350	exon22			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2989A>C	17.37:g.67012444T>G	ENSP00000342216:p.Ile997Leu		64524039	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	1.797	-0.478065	0.04414	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87887	-2.31;-2.31	5.1	1.68	0.24146	.	0.662303	0.12820	N	0.436515	T	0.77671	0.4165	L	0.41961	1.31	0.20074	N	0.999936	B;B	0.09022	0.002;0.001	B;B	0.09377	0.003;0.004	T	0.57027	-0.7881	10	0.05959	T	0.93	.	7.7292	0.28777	0.0:0.2584:0.0:0.7416	.	997;997	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	997;980;997;992	ENSP00000342216:I997L;ENSP00000359767:I997L	ENSP00000342216:I997L	I	-	1	0	ABCA9	64524039	0.000000	0.05858	0.751000	0.31187	0.044000	0.14063	0.387000	0.20718	0.009000	0.14813	0.482000	0.46254	ATT		0.338	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA9	10350	broad.mit.edu	37	17	67014669	67014669	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67014669G>T	ENST00000340001.4	-	20	2863	c.2652C>A	c.(2650-2652)ttC>ttA	p.F884L	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.F884L|ABCA9_ENST00000453985.2_Missense_Mutation_p.F884L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	884					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F884L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGACTCGTAGAATAGATGTT	0.368																																					p.F884L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2652A	17						.						212.0	220.0	217.0					17																	67014669		2203	4300	6503	64526264	SO:0001583	missense	10350	exon20			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2652C>A	17.37:g.67014669G>T	ENSP00000342216:p.Phe884Leu		64526264	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	2.108	-0.404418	0.04832	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.75821	-0.97;-0.97	5.29	0.895	0.19247	.	0.850405	0.09751	U	0.760603	T	0.45558	0.1348	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.31943	-0.9925	10	0.10902	T	0.67	.	4.9442	0.13982	0.1577:0.125:0.6014:0.1158	.	884;884	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	L	884;867;884;879	ENSP00000342216:F884L;ENSP00000359767:F884L	ENSP00000342216:F884L	F	-	3	2	ABCA9	64526264	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-1.141000	0.03207	0.624000	0.30286	-0.137000	0.14449	TTC		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
KIAA0753	9851	broad.mit.edu	37	17	6515343	6515343	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:6515343C>A	ENST00000361413.3	-	8	1799	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	KIAA0753_ENST00000572370.1_Missense_Mutation_p.D182Y|KIAA0753_ENST00000542606.1_Missense_Mutation_p.D182Y|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	481						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D481Y(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AACACCTCGTCTTTGAAGCTT	0.463																																					p.D481Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1441T	17						.						192.0	188.0	189.0					17																	6515343		1882	4108	5990	6456067	SO:0001583	missense	9851	exon8				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1441G>T	17.37:g.6515343C>A	ENSP00000355250:p.Asp481Tyr		6456067	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866116	0.51588	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.09817	2.94;2.94	4.52	3.55	0.40652	.	0.952579	0.08861	N	0.883066	T	0.15609	0.0376	L	0.47716	1.5	0.20873	N	0.999839	P	0.50528	0.936	P	0.48141	0.568	T	0.16424	-1.0403	10	0.59425	D	0.04	-4.0747	8.5921	0.33693	0.0:0.8973:0.0:0.1027	.	481	Q2KHM9	K0753_HUMAN	Y	481;182	ENSP00000355250:D481Y;ENSP00000444634:D182Y	ENSP00000355250:D481Y	D	-	1	0	KIAA0753	6456067	0.004000	0.15560	0.007000	0.13788	0.270000	0.26580	1.525000	0.35953	1.510000	0.48803	0.655000	0.94253	GAC		0.463	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA9	10350	broad.mit.edu	37	17	67045565	67045565	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67045565G>T	ENST00000340001.4	-	3	374	c.163C>A	c.(163-165)Cat>Aat	p.H55N	ABCA9_ENST00000495634.1_Missense_Mutation_p.H55N|ABCA9_ENST00000370732.2_Missense_Mutation_p.H55N|ABCA9_ENST00000453985.2_Missense_Mutation_p.H55N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	55					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.H55N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAGTGTCATGAACTTGATGT	0.343																																					p.H55N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163A	17						.						125.0	127.0	126.0					17																	67045565		2203	4300	6503	64557160	SO:0001583	missense	10350	exon3			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.163C>A	17.37:g.67045565G>T	ENSP00000342216:p.His55Asn		64557160	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.160620	0.00321	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86297	-2.0;-2.1	4.78	-2.36	0.06663	.	0.796800	0.10628	N	0.652517	T	0.60805	0.2297	N	0.01454	-0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52540	-0.8562	10	0.19147	T	0.46	.	3.7839	0.08692	0.1255:0.0871:0.49:0.2974	.	55;55	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	N	55;38;55;50	ENSP00000342216:H55N;ENSP00000359767:H55N	ENSP00000342216:H55N	H	-	1	0	ABCA9	64557160	0.003000	0.15002	0.026000	0.17262	0.001000	0.01503	-0.218000	0.09240	-0.540000	0.06265	-0.873000	0.02984	CAT		0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA6	23460	broad.mit.edu	37	17	67092428	67092428	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67092428G>A	ENST00000284425.2	-	25	3535	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1121					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1121C(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCCTTTTGCGAAAAATAAAT	0.269																																					p.R1121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3361T	17						.						24.0	28.0	26.0					17																	67092428		2178	4242	6420	64604023	SO:0001583	missense	23460	exon25			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3361C>T	17.37:g.67092428G>A	ENSP00000284425:p.Arg1121Cys		64604023	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728931	0.48833	.	.	ENSG00000154262	ENST00000284425	D	0.85955	-2.05	4.61	1.4	0.22301	.	0.275088	0.25887	N	0.027657	D	0.89815	0.6824	M	0.85630	2.765	0.54753	D	0.999984	D	0.76494	0.999	D	0.70487	0.969	D	0.86029	0.1512	10	0.72032	D	0.01	.	2.939	0.05824	0.1006:0.1882:0.5318:0.1795	.	1121	Q8N139	ABCA6_HUMAN	C	1121	ENSP00000284425:R1121C	ENSP00000284425:R1121C	R	-	1	0	ABCA6	64604023	0.998000	0.40836	0.702000	0.30337	0.691000	0.40173	0.549000	0.23329	0.245000	0.21373	0.650000	0.86243	CGC		0.269	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67094098	67094098	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67094098G>T	ENST00000284425.2	-	23	3257	c.3083C>A	c.(3082-3084)tCt>tAt	p.S1028Y	ABCA6_ENST00000446604.2_5'UTR|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1028					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1028Y(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GATATAAGGAGAAATGCTACA	0.368																																					p.S1028Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3083A	17						.						60.0	55.0	57.0					17																	67094098		2203	4300	6503	64605693	SO:0001583	missense	23460	exon23			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3083C>A	17.37:g.67094098G>T	ENSP00000284425:p.Ser1028Tyr		64605693	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363504	0.41902	.	.	ENSG00000154262	ENST00000284425	D	0.86956	-2.19	4.92	4.92	0.64577	.	0.124126	0.36555	N	0.002531	D	0.92835	0.7721	M	0.81942	2.565	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	D	0.93320	0.6692	10	0.87932	D	0	.	13.8152	0.63287	0.0:0.0:1.0:0.0	.	1028	Q8N139	ABCA6_HUMAN	Y	1028	ENSP00000284425:S1028Y	ENSP00000284425:S1028Y	S	-	2	0	ABCA6	64605693	0.781000	0.28676	0.589000	0.28718	0.176000	0.22953	3.043000	0.49823	2.717000	0.92951	0.557000	0.71058	TCT		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67108387	67108387	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67108387C>A	ENST00000284425.2	-	16	2243	c.2069G>T	c.(2068-2070)aGa>aTa	p.R690I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	690	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R690I(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACACTTCAGTCTCCCATTGGA	0.378																																					p.R690I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2069T	17						.						144.0	152.0	149.0					17																	67108387		2203	4300	6503	64619982	SO:0001583	missense	23460	exon16			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2069G>T	17.37:g.67108387C>A	ENSP00000284425:p.Arg690Ile		64619982	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721940	0.30503	.	.	ENSG00000154262	ENST00000284425	T	0.68479	-0.33	4.65	-0.911	0.10507	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.867092	0.09945	N	0.735458	T	0.61060	0.2317	M	0.72894	2.215	0.09310	N	1	B	0.28933	0.228	B	0.28553	0.091	T	0.55698	-0.8100	10	0.56958	D	0.05	.	6.5959	0.22672	0.0:0.5741:0.1291:0.2968	.	690	Q8N139	ABCA6_HUMAN	I	690	ENSP00000284425:R690I	ENSP00000284425:R690I	R	-	2	0	ABCA6	64619982	0.000000	0.05858	0.000000	0.03702	0.834000	0.47266	-0.190000	0.09615	0.016000	0.14998	-0.150000	0.13652	AGA		0.378	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA6	23460	broad.mit.edu	37	17	67119514	67119514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67119514G>T	ENST00000284425.2	-	10	1476	c.1302C>A	c.(1300-1302)ttC>ttA	p.F434L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	434					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F434L(1)|p.F434F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATGAATTCAAGAAAAATAAAG	0.363																																					p.F434L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1302A	17						.						95.0	92.0	93.0					17																	67119514		2203	4300	6503	64631109	SO:0001583	missense	23460	exon10			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1302C>A	17.37:g.67119514G>T	ENSP00000284425:p.Phe434Leu		64631109	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898920	0.52227	.	.	ENSG00000154262	ENST00000284425	D	0.91011	-2.77	4.91	1.85	0.25348	.	0.126991	0.35615	N	0.003097	D	0.90273	0.6958	M	0.69185	2.1	0.80722	D	1	B	0.33528	0.416	P	0.44518	0.452	D	0.88270	0.2929	10	0.66056	D	0.02	.	8.0306	0.30463	0.3233:0.0:0.6767:0.0	.	434	Q8N139	ABCA6_HUMAN	L	434	ENSP00000284425:F434L	ENSP00000284425:F434L	F	-	3	2	ABCA6	64631109	1.000000	0.71417	0.952000	0.39060	0.531000	0.34715	1.024000	0.30077	0.766000	0.33244	0.637000	0.83480	TTC		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
KIAA0753	9851	broad.mit.edu	37	17	6524137	6524137	+	Missense_Mutation	SNP	C	C	T	rs199555049		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:6524137C>T	ENST00000361413.3	-	7	1644	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	KIAA0753_ENST00000572370.1_Missense_Mutation_p.R130Q|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R130Q|KIAA0753_ENST00000589033.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	429						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R429Q(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TACAGAAGGTCGACTTGTTTC	0.448																																					p.R429Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1286A	17						.						181.0	171.0	174.0					17																	6524137		1928	4121	6049	6464861	SO:0001583	missense	9851	exon7				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1286G>A	17.37:g.6524137C>T	ENSP00000355250:p.Arg429Gln		6464861	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	8.942	0.965974	0.18659	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.09073	3.02;3.02	4.92	-9.83	0.00482	.	1.314050	0.05243	N	0.512636	T	0.03263	0.0095	N	0.11201	0.11	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	10	0.30854	T	0.27	6.0978	4.3736	0.11260	0.0845:0.4978:0.1682:0.2496	.	429	Q2KHM9	K0753_HUMAN	Q	429;130	ENSP00000355250:R429Q;ENSP00000444634:R130Q	ENSP00000355250:R429Q	R	-	2	0	KIAA0753	6464861	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.223000	0.02962	-2.796000	0.00354	-1.641000	0.00772	CGA		0.448	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA6	23460	broad.mit.edu	37	17	67129895	67129895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67129895G>T	ENST00000284425.2	-	6	852	c.678C>A	c.(676-678)ttC>ttA	p.F226L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	226					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F226L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAAGCAAGAAGAATAAAATAA	0.323																																					p.F226L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C678A	17						.						59.0	62.0	61.0					17																	67129895		2203	4296	6499	64641490	SO:0001583	missense	23460	exon6			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.678C>A	17.37:g.67129895G>T	ENSP00000284425:p.Phe226Leu		64641490	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	6.764	0.509779	0.12883	.	.	ENSG00000154262	ENST00000284425	D	0.86297	-2.1	5.61	2.5	0.30297	.	1.291270	0.05323	N	0.526920	D	0.83714	0.5314	L	0.53561	1.675	0.09310	N	0.999992	B	0.11235	0.004	B	0.24974	0.057	T	0.63305	-0.6667	10	0.21014	T	0.42	.	5.4639	0.16632	0.168:0.0:0.6724:0.1596	.	226	Q8N139	ABCA6_HUMAN	L	226	ENSP00000284425:F226L	ENSP00000284425:F226L	F	-	3	2	ABCA6	64641490	0.001000	0.12720	0.061000	0.19648	0.002000	0.02628	0.768000	0.26590	0.388000	0.25054	0.655000	0.94253	TTC		0.323	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	broad.mit.edu	37	17	67149612	67149612	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67149612C>A	ENST00000269081.4	-	34	4950	c.4041G>T	c.(4039-4041)aaG>aaT	p.K1347N	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1347	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1347N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGGCCCATACCTTTCTCTTTA	0.507																																					p.K1347N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4041T	17						.						115.0	123.0	120.0					17																	67149612		2203	4300	6503	64661207	SO:0001630	splice_region_variant	10349	exon34			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4041+1G>T	17.37:g.67149612C>A			64661207	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554185	0.86231	.	.	ENSG00000154263	ENST00000269081	T	0.15718	2.4	3.58	3.58	0.41010	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.35320	U	0.003297	T	0.51890	0.1701	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.997	T	0.68700	-0.5339	9	.	.	.	.	15.3524	0.74399	0.0:1.0:0.0:0.0	.	339;1347	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	N	1347	ENSP00000269081:K1347N	.	K	-	3	2	ABCA10	64661207	1.000000	0.71417	0.994000	0.49952	0.240000	0.25518	4.837000	0.62796	1.817000	0.53016	0.563000	0.77884	AAG		0.507	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Missense_Mutation
ABCA10	10349	broad.mit.edu	37	17	67151176	67151176	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67151176G>T	ENST00000269081.4	-	31	4587	c.3678C>A	c.(3676-3678)tcC>tcA	p.S1226S	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1226	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1226S(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAACACAAAAGGAAACATTTC	0.289																																					p.S1226S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3678A	17						.						56.0	55.0	55.0					17																	67151176		2202	4296	6498	64662771	SO:0001819	synonymous_variant	10349	exon31			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3678C>A	17.37:g.67151176G>T			64662771	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.289	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA10	10349	broad.mit.edu	37	17	67152063	67152063	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67152063G>T	ENST00000269081.4	-	30	4368	c.3459C>A	c.(3457-3459)atC>atA	p.I1153I	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1153					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I1153I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCGTGGAGAGATTCTACAGA	0.358																																					p.I1153I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3459A	17						.						101.0	98.0	99.0					17																	67152063		2203	4300	6503	64663658	SO:0001819	synonymous_variant	10349	exon30			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3459C>A	17.37:g.67152063G>T			64663658	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	CCDS11684.1																																																																																				0.358	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA5	23461	broad.mit.edu	37	17	67248006	67248006	+	Splice_Site	SNP	G	G	A	rs143193092		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67248006G>A	ENST00000392676.3	-	35	4481	c.4417C>T	c.(4417-4419)Cga>Tga	p.R1473*	ABCA5_ENST00000392677.2_Splice_Site_p.R1474*|ABCA5_ENST00000588877.1_Splice_Site_p.R1473*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1473	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1473*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CGAATTGCTCGCCTATAAAAC	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		14755	0.0		0.0	False		,,,				2504	0.001				p.R1473X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4417T	17						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	50.0	47.0	48.0		4417,4417	1.8	1.0	17	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained-near-splice,stop-gained-near-splice	ABCA5	NM_018672.3,NM_172232.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	1473/1643,1473/1643	67248006	3,13003	2203	4300	6503	64759601	SO:0001630	splice_region_variant	23461	exon35			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4416-1C>T	17.37:g.67248006G>A			64759601	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	51	18.345737	0.99903	2.27E-4	2.33E-4	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.44	1.79	0.24919	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	14.7935	0.69860	0.0:0.0:0.431:0.5689	.	.	.	.	X	1474;1473	.	ENSP00000376443:R1473X	R	-	1	2	ABCA5	64759601	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.498000	0.35660	0.729000	0.32403	0.591000	0.81541	CGA		0.358	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Nonsense_Mutation
ABCA5	23461	broad.mit.edu	37	17	67256534	67256534	+	Missense_Mutation	SNP	C	C	T	rs370220843		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67256534C>T	ENST00000392676.3	-	27	3648	c.3584G>A	c.(3583-3585)cGa>cAa	p.R1195Q	ABCA5_ENST00000392677.2_Missense_Mutation_p.R1196Q|ABCA5_ENST00000588877.1_Missense_Mutation_p.R1195Q			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1195					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1195Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CACATTTTTTCGTACATTCTT	0.284																																					p.R1195Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3584A	17						.	C	GLN/ARG,GLN/ARG	0,4404		0,0,2202	77.0	70.0	73.0		3584,3584	-0.1	0.0	17		73	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense	ABCA5	NM_172232.2,NM_018672.3	43,43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1195/1643,1195/1643	67256534	1,12997	2202	4297	6499	64768129	SO:0001583	missense	23461	exon27			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3584G>A	17.37:g.67256534C>T	ENSP00000376443:p.Arg1195Gln		64768129	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	2.656	-0.280907	0.05642	0.0	1.16E-4	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.82803	-1.65;-1.65	5.06	-0.134	0.13481	.	1.370600	0.05079	N	0.483135	T	0.61677	0.2366	N	0.03324	-0.35	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49351	-0.8949	9	.	.	.	.	5.6003	0.17349	0.0:0.1468:0.4254:0.4278	.	1195	Q8WWZ7	ABCA5_HUMAN	Q	1196;1195	ENSP00000376444:R1196Q;ENSP00000376443:R1195Q	.	R	-	2	0	ABCA5	64768129	0.000000	0.05858	0.001000	0.08648	0.505000	0.33919	-0.108000	0.10857	0.040000	0.15660	0.655000	0.94253	CGA		0.284	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
MAP2K6	5608	broad.mit.edu	37	17	67513662	67513662	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67513662G>T	ENST00000590474.1	+	4	441	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	52					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.D52Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GAAGGCAGATGACCTGGAGCC	0.488																																					p.D52Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154T	17						.						103.0	82.0	89.0					17																	67513662		2203	4300	6503	65025257	SO:0001583	missense	5608	exon4			U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.154G>T	17.37:g.67513662G>T	ENSP00000468348:p.Asp52Tyr		65025257	NM_002758		Missense_Mutation	SNP	ENST00000590474.1	37	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818859	0.90873	.	.	ENSG00000108984	ENST00000359094	T	0.34667	1.35	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.051315	0.85682	D	0.000000	T	0.62392	0.2424	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.986;0.986	T	0.63166	-0.6698	9	.	.	.	-18.9456	17.8901	0.88869	0.0:0.0:1.0:0.0	.	82;52;52	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	Y	52	ENSP00000351997:D52Y	.	D	+	1	0	MAP2K6	65025257	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	GAC		0.488	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
NXN	64359	broad.mit.edu	37	17	707013	707013	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:707013T>G	ENST00000336868.3	-	7	1125	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T	NXN_ENST00000575801.1_Missense_Mutation_p.K237T|NXN_ENST00000537628.2_Missense_Mutation_p.K96T|NXN_ENST00000538650.1_Missense_Mutation_p.K36T	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	345					cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K345T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AATCAGCTGCTTGGCCGCCTC	0.547																																					p.K345T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1034C	17						.						103.0	100.0	101.0					17																	707013		2203	4300	6503	653763	SO:0001583	missense	64359	exon7				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.1034A>C	17.37:g.707013T>G	ENSP00000337443:p.Lys345Thr		653763	NM_022463	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327421	0.81690	.	.	ENSG00000167693	ENST00000336868;ENST00000538650;ENST00000537628	T;T	0.33216	1.42;2.52	5.26	5.26	0.73747	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.992	D;D;P	0.81914	0.995;0.969;0.908	T	0.25745	-1.0123	10	0.27785	T	0.31	-26.0884	14.3143	0.66437	0.0:0.0:0.0:1.0	.	237;36;345	B4DXQ0;B4DNN6;Q6DKJ4	.;.;NXN_HUMAN	T	345;36;237	ENSP00000337443:K345T;ENSP00000445087:K36T	ENSP00000337443:K345T	K	-	2	0	NXN	653763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.032000	0.70918	2.129000	0.65627	0.533000	0.62120	AAG		0.547	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
MAP2K6	5608	broad.mit.edu	37	17	67516506	67516506	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:67516506C>A	ENST00000590474.1	+	6	749	c.462C>A	c.(460-462)atC>atA	p.I154I	MAP2K6_ENST00000589647.1_Silent_p.I98I	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.I154I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGAGGACATCTTAGGGAAAA	0.398																																					p.I154I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462A	17						.						107.0	107.0	107.0					17																	67516506		2203	4300	6503	65028101	SO:0001819	synonymous_variant	5608	exon6			U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.462C>A	17.37:g.67516506C>A			65028101	NM_002758		Silent	SNP	ENST00000590474.1	37	CCDS11686.1																																																																																				0.398	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	
XAF1	54739	broad.mit.edu	37	17	6659425	6659425	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:6659425A>T	ENST00000361842.3	+	1	267	c.28A>T	c.(28-30)Aac>Tac	p.N10Y	XAF1_ENST00000346752.4_Missense_Mutation_p.N10Y|XAF1_ENST00000576459.1_3'UTR|XAF1_ENST00000438512.1_Missense_Mutation_p.N10Y|XAF1_ENST00000441631.1_Missense_Mutation_p.N10Y	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	10					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N10Y(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GGTGTGCAGGAACTGGTAAGA	0.517																																					p.N10Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A28T	17						.						104.0	102.0	103.0					17																	6659425		2203	4300	6503	6600149	SO:0001583	missense	54739	exon1			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.28A>T	17.37:g.6659425A>T	ENSP00000354822:p.Asn10Tyr		6600149	NM_199139	A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	ENST00000361842.3	37	CCDS11080.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042225	0.55003	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000438512	T;T;T;T	0.29917	1.55;1.65;1.65;1.65	4.52	0.851	0.18989	.	0.183917	0.37483	N	0.002071	T	0.50769	0.1635	M	0.89287	3.02	0.20821	N	0.999848	D;D;D	0.63880	0.993;0.98;0.969	D;P;P	0.63381	0.914;0.828;0.724	T	0.40739	-0.9547	10	0.56958	D	0.05	-3.2178	5.553	0.17101	0.541:0.3619:0.0971:0.0	.	10;10;10	C9J7Z8;Q6GPH4-2;Q6GPH4	.;.;XAF1_HUMAN	Y	10	ENSP00000354822:N10Y;ENSP00000413199:N10Y;ENSP00000341029:N10Y;ENSP00000406233:N10Y	ENSP00000341029:N10Y	N	+	1	0	XAF1	6600149	0.156000	0.22821	0.073000	0.20177	0.080000	0.17528	0.453000	0.21811	0.001000	0.14605	0.533000	0.62120	AAC		0.517	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523	
KCNJ16	3773	broad.mit.edu	37	17	68129008	68129008	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:68129008G>A	ENST00000589377.1	+	2	943	c.780G>A	c.(778-780)gaG>gaA	p.E260E	KCNJ16_ENST00000283936.1_Silent_p.E260E|KCNJ16_ENST00000392671.1_Silent_p.E260E|KCNJ16_ENST00000585558.1_Silent_p.E295E|KCNJ16_ENST00000586462.1_Silent_p.E299E|KCNJ16_ENST00000392670.1_Silent_p.E260E	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	260					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.E260E(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TTGACCATGAGAGCCCTCTGT	0.443																																					p.E260E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	17						.						137.0	129.0	132.0					17																	68129008		2203	4300	6503	65640603	SO:0001819	synonymous_variant	3773	exon5			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.780G>A	17.37:g.68129008G>A			65640603	NM_018658		Silent	SNP	ENST00000589377.1	37	CCDS11687.1																																																																																				0.443	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
SLC39A11	201266	broad.mit.edu	37	17	71027782	71027782	+	Silent	SNP	G	G	A	rs79360131	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:71027782G>A	ENST00000542342.2	-	4	307	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SLC39A11_ENST00000255559.3_Silent_p.F73F|SLC39A11_ENST00000579732.1_Silent_p.F73F	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	73					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.F73F(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CAAAGGCACCGAAGCCCCCAG	0.542													G|||	48	0.00958466	0.0	0.0014	5008	,	,		18088	0.0456		0.0	False		,,,				2504	0.001				p.F73F	NSCLC(95;736 1527 12296 39625 41839)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	17						.						121.0	109.0	113.0					17																	71027782		2203	4300	6503	68539377	SO:0001819	synonymous_variant	201266	exon4			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.219C>T	17.37:g.71027782G>A			68539377	NM_001159770	B2R8H7|Q8WZ81	Silent	SNP	ENST00000542342.2	37	CCDS54160.1																																																																																				0.542	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1		
SSTR2	6752	broad.mit.edu	37	17	71165605	71165605	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:71165605C>A	ENST00000357585.2	+	2	516	c.147C>A	c.(145-147)atC>atA	p.I49I	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.I49I	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	49					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.I49I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TCACATTCATCTATTTTGTGG	0.458																																					p.I49I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147A	17						.						266.0	187.0	214.0					17																	71165605		2203	4300	6503	68677200	SO:0001819	synonymous_variant	6752	exon2				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.147C>A	17.37:g.71165605C>A			68677200	NM_001050	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	ENST00000357585.2	37	CCDS11691.1																																																																																				0.458	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
SSTR2	6752	broad.mit.edu	37	17	71166296	71166296	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:71166296G>A	ENST00000357585.2	+	2	1207	c.838G>A	c.(838-840)Gtc>Atc	p.V280I	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.V280I	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	280					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.V280I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CGTTTCTTCCGTCTCCATGGC	0.512																																					p.V280I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	17						.						212.0	175.0	188.0					17																	71166296		2203	4300	6503	68677891	SO:0001583	missense	6752	exon2				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.838G>A	17.37:g.71166296G>A	ENSP00000350198:p.Val280Ile		68677891	NM_001050	A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612484	0.66672	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.37584	1.19;1.19	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.41906	1.305	0.80722	D	1	D	0.62365	0.991	P	0.58077	0.832	T	0.47560	-0.9108	10	0.66056	D	0.02	.	18.9738	0.92725	0.0:0.0:1.0:0.0	.	280	P30874	SSR2_HUMAN	I	280	ENSP00000350198:V280I;ENSP00000326616:V280I	ENSP00000326616:V280I	V	+	1	0	SSTR2	68677891	1.000000	0.71417	0.448000	0.26945	0.493000	0.33554	6.648000	0.74359	2.577000	0.86979	0.655000	0.94253	GTC		0.512	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
C17orf80	55028	broad.mit.edu	37	17	71231960	71231960	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:71231960G>T	ENST00000535032.2	+	2	452	c.339G>T	c.(337-339)aaG>aaT	p.K113N	C17orf80_ENST00000577615.1_Missense_Mutation_p.K113N|C17orf80_ENST00000255557.4_Missense_Mutation_p.K113N|C17orf80_ENST00000426147.2_Missense_Mutation_p.K113N|C17orf80_ENST00000268942.8_Missense_Mutation_p.K113N|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.K113N			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	113						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K113N(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGACATCAAGAATCCAATCC	0.408																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	17						.						72.0	69.0	70.0					17																	71231960		2203	4300	6503	68743555	SO:0001583	missense	55028	exon3			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.339G>T	17.37:g.71231960G>T	ENSP00000440551:p.Lys113Asn		68743555	NM_001100622	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419005	0.62622	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.55	1.27	0.21489	.	0.578399	0.16691	N	0.203558	T	0.42223	0.1193	M	0.61703	1.905	0.09310	N	1	D;P;D;D	0.71674	0.992;0.952;0.992;0.998	P;P;P;P	0.62298	0.826;0.677;0.866;0.9	T	0.21895	-1.0232	10	0.72032	D	0.01	-5.3387	4.571	0.12210	0.2796:0.1788:0.5415:0.0	.	113;113;113;113	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	N	113	ENSP00000255557:K113N;ENSP00000351937:K113N;ENSP00000268942:K113N;ENSP00000396970:K113N;ENSP00000440551:K113N	ENSP00000255557:K113N	K	+	3	2	C17orf80	68743555	0.001000	0.12720	0.003000	0.11579	0.134000	0.20937	0.126000	0.15769	0.026000	0.15269	0.561000	0.74099	AAG		0.408	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
ASGR2	433	broad.mit.edu	37	17	7005464	7005465	+	Missense_Mutation	DNP	CC	CC	AT	rs199645896	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7005464_7005465CC>AT	ENST00000380952.2	-	8	978_979	c.714_715GG>AT	c.(712-717)acGGac>acATac	p.D239Y	ASGR2_ENST00000254850.7_Missense_Mutation_p.D215Y|ASGR2_ENST00000446679.2_Missense_Mutation_p.D220Y|ASGR2_ENST00000355035.5_Missense_Mutation_p.D239Y	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	239	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)	p.T238>?(1)|p.T238T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCATCACTGTCCGTGAGACCTA	0.46																																					.												.	.	2	Complex(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.714_715AT	17						.																																			6946189	SO:0001583	missense	433	exon8			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.714_715delinsAT	17.37:g.7005464_7005465delinsAT	ENSP00000370339:p.Asp239Tyr		6946188	NM_001181	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	DNP	ENST00000380952.2	37	CCDS32544.1																																																																																				0.460	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914	
SDK2	54549	broad.mit.edu	37	17	71346841	71346841	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:71346841G>A	ENST00000392650.3	-	42	5847	c.5847C>T	c.(5845-5847)ttC>ttT	p.F1949F	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.F1930F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1949					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.F1949F(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGATGAGCACGAAGACCAGAA	0.552																																					p.F1949F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5847T	17						.						141.0	125.0	130.0					17																	71346841		2203	4300	6503	68858436	SO:0001819	synonymous_variant	54549	exon42			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5847C>T	17.37:g.71346841G>A			68858436	NM_001144952	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.552	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
TTYH2	94015	broad.mit.edu	37	17	72249394	72249394	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72249394C>A	ENST00000269346.4	+	12	1508	c.1434C>A	c.(1432-1434)gtC>gtA	p.V478V	TTYH2_ENST00000441391.2_Silent_p.V157V|TTYH2_ENST00000529107.1_Silent_p.V457V	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	478						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.V478V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACGCCCCTGTCTCCGAGTACA	0.657																																					p.V478V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1434A	17						.						54.0	55.0	55.0					17																	72249394		2203	4300	6503	69760989	SO:0001819	synonymous_variant	94015	exon12				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1434C>A	17.37:g.72249394C>A			69760989	NM_032646	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.657	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		
KIF19	124602	broad.mit.edu	37	17	72338095	72338095	+	Silent	SNP	C	C	T	rs149423393		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72338095C>T	ENST00000389916.4	+	3	339	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	67	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.F67F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTACCTGTTCGACGTGGCCT	0.657																																					p.F67F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	17						.	C		0,4406		0,0,2203	116.0	112.0	113.0		201	-3.1	0.9	17	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF19	NM_153209.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		67/999	72338095	1,13005	2203	4300	6503	69849690	SO:0001819	synonymous_variant	124602	exon3			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.201C>T	17.37:g.72338095C>T			69849690	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	CCDS32718.2																																																																																				0.657	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
KIF19	124602	broad.mit.edu	37	17	72345364	72345364	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72345364G>T	ENST00000389916.4	+	10	1227	c.1089G>T	c.(1087-1089)caG>caT	p.Q363H		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	363					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.Q363H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACATCGCCCAGTACACCAGCA	0.637																																					p.Q363H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1089T	17						.						83.0	70.0	75.0					17																	72345364		2203	4300	6503	69856959	SO:0001583	missense	124602	exon10			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1089G>T	17.37:g.72345364G>T	ENSP00000374566:p.Gln363His		69856959	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805560	0.50315	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.73047	-0.71;-0.71	5.9	3.93	0.45458	.	.	.	.	.	D	0.82953	0.5149	M	0.81497	2.545	0.46631	D	0.999132	D;D;P;P	0.89917	0.999;1.0;0.86;0.679	D;D;B;B	0.80764	0.973;0.994;0.43;0.43	D	0.83505	0.0077	9	0.54805	T	0.06	.	12.013	0.53299	0.1423:0.0:0.8577:0.0	.	363;321;321;363	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	H	321;363	ENSP00000449134:Q321H;ENSP00000374566:Q363H	ENSP00000374566:Q363H	Q	+	3	2	KIF19	69856959	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	5.645000	0.67909	0.865000	0.35603	0.556000	0.70494	CAG		0.637	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
CD300A	11314	broad.mit.edu	37	17	72480259	72480259	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72480259G>T	ENST00000360141.3	+	7	1182	c.894G>T	c.(892-894)aaG>aaT	p.K298N	CD300A_ENST00000361933.3_Missense_Mutation_p.K102N|CD300A_ENST00000310828.5_Missense_Mutation_p.K185N|CD300A_ENST00000577511.1_Missense_Mutation_p.K168N|CD300A_ENST00000392625.3_Missense_Mutation_p.K149N	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	298					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.K298N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGATAAGGAAGACATAGGCTT	0.547																																					p.K298N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G894T	17						.						110.0	105.0	107.0					17																	72480259		2203	4300	6503	69991854	SO:0001583	missense	11314	exon7			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.894G>T	17.37:g.72480259G>T	ENSP00000353259:p.Lys298Asn		69991854	NM_007261	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751776	0.31046	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.56611	3.83;0.45	3.16	2.16	0.27623	.	.	.	.	.	T	0.32496	0.0831	N	0.14661	0.345	0.09310	N	1	B;P;P;P	0.44816	0.385;0.844;0.728;0.759	B;B;B;B	0.39152	0.181;0.292;0.181;0.153	T	0.08806	-1.0704	9	0.48119	T	0.1	.	8.3457	0.32272	0.0:0.2427:0.7573:0.0	.	102;149;185;298	Q9UGN4-3;Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;.;CLM8_HUMAN	N	102;298;149;185	ENSP00000353259:K298N;ENSP00000308188:K185N	ENSP00000308188:K185N	K	+	3	2	CD300A	69991854	0.541000	0.26417	0.108000	0.21378	0.091000	0.18340	1.264000	0.33015	0.893000	0.36288	0.555000	0.69702	AAG		0.547	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261	
CD300LB	124599	broad.mit.edu	37	17	72522125	72522125	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72522125G>T	ENST00000392621.1	-	2	247	c.243C>A	c.(241-243)acC>acA	p.T81T	CD300LB_ENST00000314401.3_Silent_p.T81T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	44	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T81T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						ACTTAATGTAGGTCTCCCATC	0.552																																					p.T81T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243A	17						.						189.0	173.0	179.0					17																	72522125		2203	4300	6503	70033720	SO:0001819	synonymous_variant	124599	exon2			AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.243C>A	17.37:g.72522125G>T			70033720	NM_174892	Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	CCDS11700.1																																																																																				0.552	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892	
TMEM104	54868	broad.mit.edu	37	17	72832754	72832754	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72832754C>T	ENST00000335464.5	+	10	1581	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	TMEM104_ENST00000582330.1_Silent_p.F473F|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	473						integral component of membrane (GO:0016021)		p.F473F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGGTGGGCTTCGTGCTGCTCT	0.592																																					p.F473F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1419T	17						.						62.0	51.0	54.0					17																	72832754		2203	4300	6503	70344349	SO:0001819	synonymous_variant	54868	exon10			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1419C>T	17.37:g.72832754C>T			70344349	NM_017728	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	ENST00000335464.5	37	CCDS32723.1																																																																																				0.592	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
GRIN2C	2905	broad.mit.edu	37	17	72844010	72844010	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72844010C>A	ENST00000293190.5	-	8	1898	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q584H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	584					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.Q584H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGTGAGGTTCTGGTTGTAGC	0.602																																					p.Q584H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1752T	17						.						104.0	82.0	89.0					17																	72844010		2203	4300	6503	70355605	SO:0001583	missense	2905	exon8				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1752G>T	17.37:g.72844010C>A	ENSP00000293190:p.Gln584His		70355605	NM_000835	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768026	0.15983	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.54279	0.58	3.39	2.41	0.29592	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.513484	0.19683	N	0.108463	T	0.49218	0.1544	N	0.19112	0.55	0.33050	D	0.532571	P;D	0.54601	0.564;0.967	P;P	0.59115	0.663;0.852	T	0.60260	-0.7298	10	0.72032	D	0.01	.	8.1252	0.30995	0.0:0.8075:0.0:0.1925	.	618;584	Q8IW23;Q14957	.;NMDE3_HUMAN	H	584;618	ENSP00000293190:Q584H	ENSP00000293190:Q584H	Q	-	3	2	GRIN2C	70355605	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.698000	0.37794	0.987000	0.38709	0.561000	0.74099	CAG		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
DLG4	1742	broad.mit.edu	37	17	7096856	7096856	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7096856C>T	ENST00000399506.2	-	16	1830	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLG4_ENST00000399510.2_Missense_Mutation_p.A590T|DLG4_ENST00000302955.6_Missense_Mutation_p.A544T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	547	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.A590T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCATCGTTGGCGCGGTCCTTG	0.612																																					p.A544T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1630A	17						.						73.0	77.0	75.0					17																	7096856		2035	4176	6211	7037580	SO:0001583	missense	1742	exon16			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1639G>A	17.37:g.7096856C>T	ENSP00000382425:p.Ala547Thr		7037580	NM_001128827	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	C	18.29	3.591700	0.66219	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.17213	2.29;2.29;2.29	5.08	4.11	0.48088	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.14614	0.0353	L	0.38175	1.15	0.29130	N	0.879686	B;P;B;B	0.38370	0.441;0.628;0.318;0.394	B;B;B;B	0.34824	0.137;0.19;0.073;0.114	T	0.06844	-1.0804	9	0.87932	D	0	.	11.5164	0.50524	0.0:0.9132:0.0:0.0868	.	587;547;544;590	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	T	547;544;590;590;487;590	ENSP00000382425:A547T;ENSP00000307471:A544T;ENSP00000382428:A590T	ENSP00000293813:A590T	A	-	1	0	DLG4	7037580	0.837000	0.29446	0.848000	0.33437	0.989000	0.77384	1.503000	0.35715	1.379000	0.46325	0.655000	0.94253	GCC		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
GRIN2C	2905	broad.mit.edu	37	17	72846458	72846458	+	Missense_Mutation	SNP	C	C	T	rs201869035		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72846458C>T	ENST00000293190.5	-	6	1524	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.D460N	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	460					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.D460N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGAGGATGTCGATGCAGAAT	0.602																																					p.D460N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	17						.						143.0	131.0	135.0					17																	72846458		2203	4300	6503	70358053	SO:0001583	missense	2905	exon6				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1378G>A	17.37:g.72846458C>T	ENSP00000293190:p.Asp460Asn		70358053	NM_000835	B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196915	0.58126	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.41065	1.01	4.65	3.65	0.41850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.105548	0.64402	D	0.000007	T	0.73353	0.3576	H	0.95437	3.67	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82410	-0.0471	10	0.87932	D	0	.	13.9123	0.63876	0.1537:0.8463:0.0:0.0	.	494;460	Q8IW23;Q14957	.;NMDE3_HUMAN	N	460;494	ENSP00000293190:D460N	ENSP00000293190:D460N	D	-	1	0	GRIN2C	70358053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.603000	0.82811	1.268000	0.44264	0.491000	0.48974	GAC		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
DVL2	1856	broad.mit.edu	37	17	7130748	7130748	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7130748C>A	ENST00000005340.5	-	12	1620	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N	DVL2_ENST00000575458.1_Missense_Mutation_p.K440N|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	446	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.K446N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GGATGGTGATCTTGAGCCACA	0.607																																					p.K446N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1338T	17						.						75.0	78.0	77.0					17																	7130748		2203	4300	6503	7071472	SO:0001583	missense	1856	exon12			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1338G>T	17.37:g.7130748C>A	ENSP00000005340:p.Lys446Asn		7071472	NM_004422	D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511208	0.64522	.	.	ENSG00000004975	ENST00000005340	T	0.22945	1.93	4.66	2.69	0.31865	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.93678	3.445	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.56751	-0.7927	10	0.87932	D	0	-25.1514	6.4036	0.21652	0.0:0.7012:0.0:0.2988	.	440;446	B4DLQ0;O14641	.;DVL2_HUMAN	N	446	ENSP00000005340:K446N	ENSP00000005340:K446N	K	-	3	2	DVL2	7071472	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.547000	0.36190	0.599000	0.29845	-0.218000	0.12543	AAG		0.607	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
OTOP2	92736	broad.mit.edu	37	17	72923856	72923856	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:72923856T>G	ENST00000580223.1	+	4	636	c.606T>G	c.(604-606)tcT>tcG	p.S202S	OTOP2_ENST00000331427.4_Silent_p.S202S			Q7RTS6	OTOP2_HUMAN	otopetrin 2	202						integral component of membrane (GO:0016021)		p.S202S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ACAGCAGTTCTCACAGCAACG	0.572																																					p.S202S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T606G	17						.						110.0	80.0	90.0					17																	72923856		2203	4300	6503	70435451	SO:0001819	synonymous_variant	92736	exon5			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.606T>G	17.37:g.72923856T>G			70435451	NM_178160		Silent	SNP	ENST00000580223.1	37	CCDS11708.1																																																																																				0.572	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
GGA3	23163	broad.mit.edu	37	17	73238487	73238487	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73238487C>A	ENST00000245541.6	-	8	893	c.677G>T	c.(676-678)aGa>aTa	p.R226I	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000578348.1_Missense_Mutation_p.R104I|GGA3_ENST00000351904.7_Missense_Mutation_p.R193I|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000538886.1_Missense_Mutation_p.R104I|GGA3_ENST00000582486.1_Missense_Mutation_p.R154I|GGA3_ENST00000582717.1_Missense_Mutation_p.R154I	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	226	Binds to ARF1 (in long isoform).|GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.R226I(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACTGAGCAGTCTCACGTTGTT	0.557																																					p.R193I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578T	17						.						348.0	282.0	305.0					17																	73238487		2203	4300	6503	70750082	SO:0001583	missense	23163	exon7			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.677G>T	17.37:g.73238487C>A	ENSP00000245541:p.Arg226Ile		70750082	NM_014001	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094671	0.36952	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.45668	0.89;0.89;0.89	4.83	3.76	0.43208	GAT (2);	0.097230	0.64402	D	0.000001	T	0.35219	0.0924	L	0.49778	1.585	0.80722	D	1	B;B;B	0.29590	0.213;0.061;0.25	B;B;B	0.34093	0.057;0.039;0.175	T	0.17715	-1.0360	10	0.46703	T	0.11	-16.9174	5.329	0.15922	0.1549:0.0842:0.0:0.7609	.	104;193;226	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	I	226;193;154;104	ENSP00000245541:R226I;ENSP00000326575:R193I;ENSP00000446421:R104I	ENSP00000245541:R226I	R	-	2	0	GGA3	70750082	1.000000	0.71417	0.919000	0.36401	0.905000	0.53344	4.014000	0.57145	0.893000	0.36288	-0.302000	0.09304	AGA		0.557	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619	
MIF4GD	57409	broad.mit.edu	37	17	73266224	73266224	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73266224G>A	ENST00000325102.8	-	2	177	c.53C>T	c.(52-54)aCc>aTc	p.T18I	MIF4GD_ENST00000579119.1_Missense_Mutation_p.T18I|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000580571.1_Missense_Mutation_p.T18I|MIF4GD_ENST00000579297.1_Missense_Mutation_p.T18I|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000245551.5_Missense_Mutation_p.T18I|MIF4GD_ENST00000578305.1_Missense_Mutation_p.T18I|MIF4GD_ENST00000577542.1_Missense_Mutation_p.T18I	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	18	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.T18I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CAGCTGCTGGGTCTCTGCATC	0.592																																					p.T18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	17						.						192.0	192.0	192.0					17																	73266224		2203	4300	6503	70777819	SO:0001583	missense	57409	exon2			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.53C>T	17.37:g.73266224G>A	ENSP00000321625:p.Thr18Ile		70777819	NM_020679	B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420439	0.42918	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T	0.15834	2.39	5.13	4.14	0.48551	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051770	0.85682	D	0.000000	T	0.18551	0.0445	L	0.57536	1.79	0.30045	N	0.812276	B;B;B	0.19200	0.023;0.033;0.034	B;B;B	0.28553	0.024;0.091;0.042	T	0.09207	-1.0685	10	0.33940	T	0.23	-4.6479	8.9238	0.35628	0.0785:0.0:0.7713:0.1502	.	18;18;18	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	I	18	ENSP00000321625:T18I	ENSP00000245551:T18I	T	-	2	0	MIF4GD	70777819	1.000000	0.71417	0.974000	0.42286	0.961000	0.63080	5.392000	0.66272	1.108000	0.41662	0.455000	0.32223	ACC		0.592	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679	
CTDNEP1	23399	broad.mit.edu	37	17	7149674	7149674	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7149674C>T	ENST00000573600.1	-	6	797	c.376G>A	c.(376-378)Gag>Aag	p.E126K	CTDNEP1_ENST00000574322.1_Missense_Mutation_p.E126K|CTDNEP1_ENST00000572043.1_5'UTR|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.E126K			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	126	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)	p.E126K(2)		central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCACCAGCTCGTACCACTGG	0.453																																					p.E126K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G376A	17						.						84.0	80.0	81.0					17																	7149674		2203	4300	6503	7090398	SO:0001583	missense	23399	exon6			AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.376G>A	17.37:g.7149674C>T	ENSP00000461749:p.Glu126Lys		7090398	NM_015343	D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912363	0.72983	.	.	ENSG00000175826	ENST00000318988	T	0.22539	1.95	4.86	4.86	0.63082	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.89095	3.005	0.80722	D	1	D	0.55800	0.973	P	0.52598	0.703	T	0.51911	-0.8645	10	0.46703	T	0.11	-16.5804	15.5281	0.75928	0.0:1.0:0.0:0.0	.	126	O95476	CNEP1_HUMAN	K	126	ENSP00000321732:E126K	ENSP00000321732:E126K	E	-	1	0	CTDNEP1	7090398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.476000	0.73587	2.522000	0.85027	0.655000	0.94253	GAG		0.453	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	
GRB2	2885	broad.mit.edu	37	17	73317828	73317828	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73317828G>T	ENST00000392562.1	-	5	1162	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	GRB2_ENST00000392564.1_Missense_Mutation_p.S127Y|GRB2_ENST00000392563.1_Missense_Mutation_p.S86Y|GRB2_ENST00000316804.5_Missense_Mutation_p.S127Y|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Missense_Mutation_p.S86Y			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	127	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S127Y(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTCATTCAAAGAATTGAACTT	0.502																																					p.S127Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380A	17						.						99.0	90.0	93.0					17																	73317828		2203	4300	6503	70829423	SO:0001583	missense	2885	exon5				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.380C>A	17.37:g.73317828G>T	ENSP00000376345:p.Ser127Tyr		70829423	NM_002086	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445535	0.96187	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;D;D	0.85861	1.32;1.32;1.32;-2.04;-2.04	5.95	5.95	0.96441	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	H	0.98068	4.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96243	0.9177	10	0.54805	T	0.06	-23.2968	20.3931	0.98965	0.0:0.0:1.0:0.0	.	86;127	P62993-2;P62993	.;GRB2_HUMAN	Y	127;127;127;86;86	ENSP00000339007:S127Y;ENSP00000376345:S127Y;ENSP00000376347:S127Y;ENSP00000376346:S86Y;ENSP00000317360:S86Y	ENSP00000317360:S86Y	S	-	2	0	GRB2	70829423	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	7.912000	0.87465	2.824000	0.97209	0.655000	0.94253	TCT		0.502	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1		
SLC2A4	6517	broad.mit.edu	37	17	7188168	7188168	+	Silent	SNP	G	G	A	rs541494158		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7188168G>A	ENST00000317370.8	+	8	1198	c.930G>A	c.(928-930)tcG>tcA	p.S310S	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Silent_p.S310S|SLC2A4_ENST00000424875.2_Silent_p.S300S	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	310					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.S310S(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTATTATTCGACCAGCATCT	0.552																																					p.S310S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	17						.						150.0	151.0	151.0					17																	7188168		2203	4300	6503	7128892	SO:0001819	synonymous_variant	6517	exon8			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.930G>A	17.37:g.7188168G>A			7128892	NM_001042	Q05BQ3|Q14CX2	Silent	SNP	ENST00000317370.8	37	CCDS11097.1																																																																																				0.552	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
SLC2A4	6517	broad.mit.edu	37	17	7189116	7189116	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7189116C>A	ENST00000317370.8	+	10	1483	c.1215C>A	c.(1213-1215)ttC>ttA	p.F405L	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.F405L|SLC2A4_ENST00000424875.2_Missense_Mutation_p.F395L	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	405					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.F405L(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTCCTTGGTTCATCGTGGCCG	0.582																																					p.F405L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1215A	17						.						103.0	94.0	97.0					17																	7189116		2203	4300	6503	7129840	SO:0001583	missense	6517	exon10			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.1215C>A	17.37:g.7189116C>A	ENSP00000320935:p.Phe405Leu		7129840	NM_001042	Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524979	0.85600	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.73681	-0.77;-0.77	5.09	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	N	0.20483	0.58	0.52501	D	0.999957	D;P	0.63880	0.993;0.699	D;B	0.63381	0.914;0.209	T	0.71024	-0.4712	10	0.34782	T	0.22	.	10.9068	0.47084	0.0:0.9101:0.0:0.0898	.	405;395	P14672;F5H081	GTR4_HUMAN;.	L	405;395	ENSP00000320935:F405L;ENSP00000396887:F395L	ENSP00000320935:F405L	F	+	3	2	SLC2A4	7129840	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.903000	0.39858	1.375000	0.46248	0.563000	0.77884	TTC		0.582	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
ITGB4	3691	broad.mit.edu	37	17	73732224	73732224	+	Missense_Mutation	SNP	G	G	T	rs139115559		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73732224G>T	ENST00000200181.3	+	14	1937	c.1750G>T	c.(1750-1752)Gac>Tac	p.D584Y	ITGB4_ENST00000579662.1_Missense_Mutation_p.D584Y|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.D584Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.D584Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.D584Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	584	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.D584Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCTGCATCGACAGCAATGG	0.602																																					p.D584Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1750T	17						.						131.0	109.0	117.0					17																	73732224		2203	4300	6503	71243819	SO:0001583	missense	3691	exon14				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1750G>T	17.37:g.73732224G>T	ENSP00000200181:p.Asp584Tyr		71243819	NM_001005731	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857089	0.32791	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92699	-3.09;-3.09;-3.09	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.94013	0.8082	L	0.52364	1.645	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.971;0.985;0.994;0.99;0.99	D	0.94324	0.7556	10	0.87932	D	0	.	12.1397	0.53991	0.0837:0.0:0.9163:0.0	.	544;584;584;584;584	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	Y	500;584;584;584	ENSP00000200181:D584Y;ENSP00000344079:D584Y;ENSP00000400217:D584Y	ENSP00000200181:D584Y	D	+	1	0	ITGB4	71243819	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.396000	0.79891	2.133000	0.65898	0.456000	0.33151	GAC		0.602	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
UNK	85451	broad.mit.edu	37	17	73805934	73805934	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73805934C>T	ENST00000589666.1	+	2	308	c.198C>T	c.(196-198)ttC>ttT	p.F66F	UNK_ENST00000293218.3_Silent_p.F142F	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	66							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F66F(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGCACTTCGTGAACCAGC	0.592																																					p.F142F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426T	17						.						32.0	38.0	36.0					17																	73805934		2173	4281	6454	71317529	SO:0001819	synonymous_variant	85451	exon3			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.198C>T	17.37:g.73805934C>T			71317529	NM_001080419		Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.592	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	
UNK	85451	broad.mit.edu	37	17	73813592	73813592	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73813592A>C	ENST00000589666.1	+	9	1400	c.1290A>C	c.(1288-1290)aaA>aaC	p.K430N	UNK_ENST00000293218.3_Missense_Mutation_p.K506N|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	430							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K430N(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTACCTGAAAAATTTCAAAT	0.577																																					p.K506N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1518C	17						.						40.0	44.0	42.0					17																	73813592		1958	4137	6095	71325187	SO:0001583	missense	85451	exon10			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1290A>C	17.37:g.73813592A>C	ENSP00000464893:p.Lys430Asn		71325187	NM_001080419		Missense_Mutation	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610550	0.46527	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.81	0.837	0.18896	.	0.192877	0.41605	D	0.000857	T	0.45657	0.1353	L	0.44542	1.39	0.40575	D	0.981334	D	0.58268	0.982	P	0.49421	0.61	T	0.33879	-0.9851	9	0.19147	T	0.46	-10.4875	9.1041	0.36687	0.5872:0.0:0.4128:0.0	.	430	Q9C0B0	UNK_HUMAN	N	506	.	ENSP00000293218:K506N	K	+	3	2	UNK	71325187	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	1.874000	0.39568	-0.040000	0.13580	-0.371000	0.07208	AAA		0.577	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	
FBF1	85302	broad.mit.edu	37	17	73929094	73929094	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:73929094G>T	ENST00000586717.1	-	4	380	c.107C>A	c.(106-108)tCt>tAt	p.S36Y	FBF1_ENST00000389570.4_Missense_Mutation_p.S36Y|FBF1_ENST00000319129.5_Missense_Mutation_p.S36Y			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	36					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.S36Y(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGCCTTTGAAGAAGGGAACAT	0.473																																					p.S36Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107A	17						.						74.0	71.0	72.0					17																	73929094		1915	4138	6053	71440689	SO:0001583	missense	85302	exon4			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.107C>A	17.37:g.73929094G>T	ENSP00000465132:p.Ser36Tyr		71440689	NM_001080542	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37		.	.	.	.	.	.	.	.	.	.	G	15.68	2.904023	0.52333	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.20738	2.05;2.05	3.74	3.74	0.42951	.	.	.	.	.	T	0.35480	0.0933	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63880	0.993;0.989;0.993	D;P;P	0.63113	0.911;0.859;0.858	T	0.05550	-1.0878	9	0.87932	D	0	-1.4384	11.3559	0.49615	0.0:0.0:1.0:0.0	.	50;36;36	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	Y	36;36;36;49	ENSP00000374221:S36Y;ENSP00000324292:S36Y	ENSP00000324292:S36Y	S	-	2	0	FBF1	71440689	0.019000	0.18553	0.019000	0.16419	0.146000	0.21551	2.469000	0.45110	2.361000	0.80049	0.557000	0.71058	TCT		0.473	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	
EVPL	2125	broad.mit.edu	37	17	74004869	74004869	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:74004869C>A	ENST00000301607.3	-	22	4670	c.4417G>T	c.(4417-4419)Gac>Tac	p.D1473Y	EVPL_ENST00000586740.1_Missense_Mutation_p.D1495Y|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1473	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.D1473Y(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTCCAGGTCCGGGTCCTTC	0.607																																					p.D1473Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4417T	17						.						138.0	130.0	133.0					17																	74004869		2203	4300	6503	71516464	SO:0001583	missense	2125	exon22			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4417G>T	17.37:g.74004869C>A	ENSP00000301607:p.Asp1473Tyr		71516464	NM_001988	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222260	0.22457	.	.	ENSG00000167880	ENST00000301607	T	0.45668	0.89	4.97	4.97	0.65823	.	0.586898	0.18019	N	0.154287	T	0.36413	0.0966	L	0.44542	1.39	0.09310	N	1	P;P	0.46220	0.874;0.845	B;B	0.37888	0.26;0.188	T	0.38243	-0.9670	10	0.59425	D	0.04	-13.4321	15.3858	0.74699	0.0:0.8606:0.1394:0.0	.	1495;1473	B7ZLH8;Q92817	.;EVPL_HUMAN	Y	1473	ENSP00000301607:D1473Y	ENSP00000301607:D1473Y	D	-	1	0	EVPL	71516464	0.200000	0.23398	0.091000	0.20842	0.883000	0.51084	2.970000	0.49240	2.306000	0.77630	0.561000	0.74099	GAC		0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
SRP68	6730	broad.mit.edu	37	17	74063360	74063360	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:74063360C>A	ENST00000307877.2	-	3	464	c.303G>T	c.(301-303)aaG>aaT	p.K101N	SRP68_ENST00000539137.1_Intron|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K101N(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGTTACCCATCTTGAAGTTGA	0.418																																					p.K101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G303T	17						.						246.0	213.0	225.0					17																	74063360		2203	4300	6503	71574955	SO:0001583	missense	6730	exon3			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.303G>T	17.37:g.74063360C>A	ENSP00000312066:p.Lys101Asn		71574955	NM_014230	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.768048	0.49680	.	.	ENSG00000167881	ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	4.43	3.46	0.39613	.	0.100651	0.64402	D	0.000002	T	0.56455	0.1986	L	0.58101	1.795	0.80722	D	1	P	0.43701	0.815	P	0.48227	0.571	T	0.50906	-0.8772	9	0.21014	T	0.42	-28.3136	8.8951	0.35458	0.0:0.8292:0.0:0.1708	.	101	Q9UHB9	SRP68_HUMAN	N	101	.	ENSP00000307756:K101N	K	-	3	2	SRP68	71574955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.912000	0.39946	1.099000	0.41499	0.580000	0.79431	AAG		0.418	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230	
ACAP1	9744	broad.mit.edu	37	17	7250451	7250451	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7250451C>T	ENST00000158762.3	+	14	1439	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	411	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V411V(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGGCCCAGGTCCAGAGTGTGG	0.662																																					p.V411V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1233T	17						.						56.0	62.0	60.0					17																	7250451		2203	4300	6503	7191175	SO:0001819	synonymous_variant	9744	exon14			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1233C>T	17.37:g.7250451C>T			7191175	NM_014716	Q53XN9	Silent	SNP	ENST00000158762.3	37	CCDS11101.1																																																																																				0.662	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
ACAP1	9744	broad.mit.edu	37	17	7251307	7251307	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7251307G>T	ENST00000158762.3	+	15	1616	c.1410G>T	c.(1408-1410)gtG>gtT	p.V470V	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	470	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V470V(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CAGAACTAGTGAAGGTAACTT	0.592																																					p.V470V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1410T	17						.						85.0	78.0	80.0					17																	7251307		2203	4300	6503	7192031	SO:0001819	synonymous_variant	9744	exon15			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1410G>T	17.37:g.7251307G>T			7192031	NM_014716	Q53XN9	Silent	SNP	ENST00000158762.3	37	CCDS11101.1																																																																																				0.592	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
ACAP1	9744	broad.mit.edu	37	17	7252364	7252364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7252364C>T	ENST00000158762.3	+	18	1935	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000575415.1_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	577	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R577*(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CCTACTGTTTCGAGCGTCTGG	0.602																																					p.R577X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1729T	17						.						104.0	101.0	102.0					17																	7252364		2203	4300	6503	7193088	SO:0001587	stop_gained	9744	exon18			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1729C>T	17.37:g.7252364C>T	ENSP00000158762:p.Arg577*		7193088	NM_014716	Q53XN9	Nonsense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	36	5.764855	0.96906	.	.	ENSG00000072818	ENST00000158762	.	.	.	5.13	2.96	0.34315	.	0.275542	0.32563	N	0.005937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1326	0.25510	0.1751:0.7265:0.0:0.0984	.	.	.	.	X	577	.	ENSP00000158762:R577X	R	+	1	2	ACAP1	7193088	0.997000	0.39634	1.000000	0.80357	0.185000	0.23345	0.810000	0.27183	1.347000	0.45714	0.655000	0.94253	CGA		0.602	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716	
PRPSAP1	5635	broad.mit.edu	37	17	74328351	74328351	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:74328351C>T	ENST00000446526.3	-	4	901	c.456G>A	c.(454-456)gcG>gcA	p.A152A	PRPSAP1_ENST00000324684.4_Silent_p.A49A	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	123					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.A123A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CACCTGCTTTCGCCAGCATGG	0.537																																					p.A152A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G456A	17						.						180.0	170.0	173.0					17																	74328351		2203	4300	6503	71839946	SO:0001819	synonymous_variant	5635	exon4			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.456G>A	17.37:g.74328351C>T			71839946	NM_002766	B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	CCDS11743.2																																																																																				0.537	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	
TNK1	8711	broad.mit.edu	37	17	7286624	7286624	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7286624G>T	ENST00000576812.1	+	3	588	c.219G>T	c.(217-219)aaG>aaT	p.K73N	TNK1_ENST00000311668.2_Missense_Mutation_p.K73N|TNK1_ENST00000570896.1_Missense_Mutation_p.K73N	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.K73N(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTAAGTCTAAGAACTGGGTCT	0.617																																					p.K73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G219T	17						.						80.0	89.0	86.0					17																	7286624		2008	4166	6174	7227348	SO:0001583	missense	8711	exon3			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.219G>T	17.37:g.7286624G>T	ENSP00000459799:p.Lys73Asn		7227348	NM_003985		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560340	0.65538	.	.	ENSG00000174292	ENST00000311668	T	0.38240	1.15	4.29	4.29	0.51040	.	0.000000	0.52532	D	0.000073	T	0.44456	0.1294	M	0.68317	2.08	0.34070	D	0.658298	P;P	0.44260	0.83;0.739	P;B	0.47645	0.553;0.351	T	0.61491	-0.7052	10	0.59425	D	0.04	.	12.5556	0.56252	0.0:0.0:1.0:0.0	.	73;73	Q13470-2;Q13470	.;TNK1_HUMAN	N	73	ENSP00000312309:K73N	ENSP00000312309:K73N	K	+	3	2	TNK1	7227348	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.116000	0.50399	2.675000	0.91044	0.637000	0.83480	AAG		0.617	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2	NM_003985	
SRSF2	6427	broad.mit.edu	37	17	74732349	74732349	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:74732349G>T	ENST00000392485.2	-	2	732	c.560C>A	c.(559-561)tCt>tAt	p.S187Y	MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.S175Y|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.S187Y|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	187	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S187Y(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCTGGACCGAGACCGGGACCT	0.607			Mis		"""MDS, CLL"""																																p.S187Y			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C560A	17						.						107.0	93.0	98.0					17																	74732349		2203	4300	6503	72243944	SO:0001583	missense	6427	exon2			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.560C>A	17.37:g.74732349G>T	ENSP00000376276:p.Ser187Tyr		72243944	NM_003016	B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.96|10.96	1.498079|1.498079	0.26861|0.26861	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T	.|0.39787	.|1.06	5.29|5.29	4.32|4.32	0.51571|0.51571	.|.	.|0.174964	.|0.38326	.|N	.|0.001737	T|T	0.44052|0.44052	0.1275|0.1275	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|P;P	.|0.40875	.|0.731;0.731	.|B;B	.|0.33568	.|0.166;0.166	T|T	0.53272|0.53272	-0.8462|-0.8462	6|10	0.21540|0.56958	T|D	0.41|0.05	.|.	14.0835|14.0835	0.64939|0.64939	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|175;187	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	I|Y	137|187;214;175;167	.|ENSP00000376276:S187Y	ENSP00000391278:L137I|ENSP00000350877:S175Y	L|S	-|-	1|2	0|0	SRSF2|SRSF2	72243944|72243944	1.000000|1.000000	0.71417|0.71417	0.051000|0.051000	0.19133|0.19133	0.038000|0.038000	0.13279|0.13279	7.389000|7.389000	0.79806|0.79806	1.210000|1.210000	0.43336|0.43336	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.607	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016	
TMEM256-PLSCR3	100529211	broad.mit.edu	37	17	7296934	7296934	+	Missense_Mutation	SNP	C	C	T	rs199962387		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7296934C>T	ENST00000576362.1	-	2	386	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.E77K|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.E77K					TMEM256-PLSCR3 readthrough (NMD candidate)									p.E77K(2)									ACCAGGAATTCGAGGCCAGAA	0.682																																					p.E77K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G229A	17						.						23.0	27.0	26.0					17																	7296934		2024	4160	6184	7237658	SO:0001583	missense	57048	exon3					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.229G>A	17.37:g.7296934C>T	ENSP00000460800:p.Glu77Lys		7237658	NM_020360		Missense_Mutation	SNP	ENST00000576362.1	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.286657	0.80803	.	.	ENSG00000187838	ENST00000535512;ENST00000324822;ENST00000380658	T;T	0.25250	1.81;1.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.83012	2.62	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.59521	-0.7439	10	0.72032	D	0.01	-13.4048	14.8178	0.70048	0.0:1.0:0.0:0.0	.	77;132	Q9NRY6;D3DTP7	PLS3_HUMAN;.	K	77	ENSP00000438547:E77K;ENSP00000316021:E77K	ENSP00000316021:E77K	E	-	1	0	PLSCR3	7237658	0.993000	0.37304	0.996000	0.52242	0.949000	0.60115	2.885000	0.48570	2.584000	0.87258	0.462000	0.41574	GAA		0.682	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1		
C17orf74	201243	broad.mit.edu	37	17	7329356	7329356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7329356G>A	ENST00000333870.3	+	2	257	c.183G>A	c.(181-183)tgG>tgA	p.W61*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Nonsense_Mutation_p.W61*	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	61						integral component of membrane (GO:0016021)		p.W61*(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TGATTGATTGGGCTACTCAGA	0.597																																					p.W61X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G183A	17						.						76.0	79.0	78.0					17																	7329356		1999	4151	6150	7270080	SO:0001587	stop_gained	201243	exon2			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.183G>A	17.37:g.7329356G>A	ENSP00000328061:p.Trp61*		7270080	NM_175734		Nonsense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122132	0.37436	.	.	ENSG00000184560	ENST00000333870	.	.	.	3.58	-0.134	0.13481	.	1.773300	0.03723	U	0.252217	.	.	.	.	.	.	0.52501	D	0.999959	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-9.0138	10.6903	0.45867	0.0:0.5989:0.4011:0.0	.	.	.	.	X	61	.	ENSP00000328061:W61X	W	+	3	0	C17orf74	7270080	0.869000	0.29996	0.018000	0.16275	0.084000	0.17831	0.792000	0.26929	0.254000	0.21573	-0.512000	0.04463	TGG		0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
MFSD11	79157	broad.mit.edu	37	17	74763499	74763499	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:74763499G>T	ENST00000588460.1	+	9	2756	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MFSD11_ENST00000590514.1_Missense_Mutation_p.E238D|MFSD11_ENST00000336509.4_Missense_Mutation_p.E238D|MFSD11_ENST00000586622.1_Missense_Mutation_p.E238D|MFSD11_ENST00000593181.1_Missense_Mutation_p.E186D|MFSD11_ENST00000355954.3_Missense_Mutation_p.E186D	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	238						integral component of membrane (GO:0016021)		p.E238D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TCACCAAGGAGATGCTCCTTC	0.303																																					p.E238D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G714T	17						.						114.0	105.0	108.0					17																	74763499		2203	4300	6503	72275094	SO:0001583	missense	79157	exon10			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.714G>T	17.37:g.74763499G>T	ENSP00000464932:p.Glu238Asp		72275094	NM_024311	O43442|Q9NXI5	Missense_Mutation	SNP	ENST00000588460.1	37	CCDS11750.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544338	0.45280	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80738	-1.41;-1.41	5.11	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);	0.047189	0.85682	D	0.000000	T	0.75265	0.3826	L	0.37630	1.12	0.80722	D	1	P;B	0.48503	0.911;0.003	P;B	0.46975	0.533;0.009	T	0.72023	-0.4415	10	0.21014	T	0.42	-6.1626	14.441	0.67318	0.0846:0.0:0.9154:0.0	.	186;238	O43934-2;O43934	.;MFS11_HUMAN	D	238;186	ENSP00000337240:E238D;ENSP00000348225:E186D	ENSP00000337240:E238D	E	+	3	2	MFSD11	72275094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.715000	0.54897	2.383000	0.81215	0.591000	0.81541	GAG		0.303	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311	
C17orf74	201243	broad.mit.edu	37	17	7329798	7329798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7329798G>A	ENST00000333870.3	+	3	562	c.488G>A	c.(487-489)cGc>cAc	p.R163H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	163						integral component of membrane (GO:0016021)		p.R163H(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AACCCACATCGCAGCCAAAAG	0.587																																					p.R163H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	17						.						121.0	128.0	126.0					17																	7329798		2030	4175	6205	7270522	SO:0001583	missense	201243	exon3			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.488G>A	17.37:g.7329798G>A	ENSP00000328061:p.Arg163His		7270522	NM_175734		Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	G	3.766	-0.048532	0.07407	.	.	ENSG00000184560	ENST00000333870	T	0.42131	0.98	4.0	-7.18	0.01505	.	0.927198	0.08987	N	0.864961	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28744	-1.0034	10	0.17832	T	0.49	-14.8655	8.1818	0.31315	0.77:0.1089:0.1212:0.0	.	163	Q0P670	CQ074_HUMAN	H	163	ENSP00000328061:R163H	ENSP00000328061:R163H	R	+	2	0	C17orf74	7270522	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.127000	0.03251	-1.585000	0.01634	-0.339000	0.08088	CGC		0.587	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
FGF11	2256	broad.mit.edu	37	17	7345197	7345197	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7345197C>T	ENST00000293829.4	+	3	1001	c.407C>T	c.(406-408)tCg>tTg	p.S136L	FGF11_ENST00000575398.1_Splice_Site_p.S12L|FGF11_ENST00000575082.1_Splice_Site_p.S12L|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000572907.1_Splice_Site_p.S12L|FGF11_ENST00000575235.1_Splice_Site_p.S12L|RP11-104H15.10_ENST00000575331.1_RNA	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	136					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.S136L(1)		central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CTCTACAGTTCGGTGAGACAA	0.537																																					p.S136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C407T	17						.						102.0	83.0	89.0					17																	7345197		2203	4300	6503	7285921	SO:0001630	splice_region_variant	2256	exon3				CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.408+1C>T	17.37:g.7345197C>T			7285921	NM_004112	Q2YDX8	Missense_Mutation	SNP	ENST00000293829.4	37	CCDS11105.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330574	0.95733	.	.	ENSG00000161958	ENST00000293829	D	0.83419	-1.72	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.91865	0.7425	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.957;0.99	D	0.93067	0.6479	10	0.87932	D	0	.	15.7855	0.78300	0.0:1.0:0.0:0.0	.	77;136	B7Z1C3;Q92914	.;FGF11_HUMAN	L	136	ENSP00000293829:S136L	ENSP00000293829:S136L	S	+	2	0	FGF11	7285921	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.993000	0.76245	2.605000	0.88082	0.555000	0.69702	TCG		0.537	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112	Missense_Mutation
POLR2A	5430	broad.mit.edu	37	17	7399887	7399887	+	Silent	SNP	C	C	T	rs368365915		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7399887C>T	ENST00000322644.6	+	4	891	c.492C>T	c.(490-492)ttC>ttT	p.F164F	POLR2A_ENST00000572844.1_Silent_p.F164F	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	164					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.F164F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACAACAAGTTCGGTGTGGAAC	0.562																																					p.F164F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	17						.	C		0,4406		0,0,2203	139.0	144.0	142.0		492	-8.9	0.5	17		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	POLR2A	NM_000937.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		164/1971	7399887	1,13005	2203	4300	6503	7340611	SO:0001819	synonymous_variant	5430	exon4					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.492C>T	17.37:g.7399887C>T			7340611	NM_000937	A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	CCDS32548.1																																																																																				0.562	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
SEC14L1	6397	broad.mit.edu	37	17	75189628	75189628	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:75189628A>C	ENST00000413679.2	+	6	774	c.471A>C	c.(469-471)aaA>aaC	p.K157N	SEC14L1_ENST00000431431.2_Missense_Mutation_p.K123N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.K157N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.K157N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.K123N|SEC14L1_ENST00000430767.4_Missense_Mutation_p.K157N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.K157N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.K157N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	157	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.K157N(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCAACATTAAAAAAGTGAGTG	0.398																																					p.K157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A471C	17						.						61.0	63.0	62.0					17																	75189628		2202	4300	6502	72701223	SO:0001583	missense	6397	exon6			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.471A>C	17.37:g.75189628A>C	ENSP00000394716:p.Lys157Asn		72701223	NM_001039573	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303445	0.60195	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	5.18	4.1	0.47936	PRELI/MSF1 (2);	0.043773	0.85682	D	0.000000	T	0.38453	0.1041	M	0.83118	2.625	0.47476	D	0.999437	D;D	0.59357	0.981;0.985	P;P	0.61477	0.823;0.889	T	0.16719	-1.0393	10	0.39692	T	0.17	-28.9786	10.3808	0.44110	0.9223:0.0:0.0777:0.0	.	157;157	Q92503-2;Q92503	.;S14L1_HUMAN	N	157;157;157;157;157;123	ENSP00000376268:K157N;ENSP00000406030:K157N;ENSP00000390392:K157N;ENSP00000408169:K157N;ENSP00000394716:K157N;ENSP00000389838:K123N	ENSP00000376268:K157N	K	+	3	2	SEC14L1	72701223	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.459000	0.45023	0.915000	0.36847	-0.256000	0.11100	AAA		0.398	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
TNRC6C	57690	broad.mit.edu	37	17	76045655	76045655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76045655C>A	ENST00000588061.1	+	5	1239	c.512C>A	c.(511-513)tCt>tAt	p.S171Y	TNRC6C_ENST00000335749.4_Missense_Mutation_p.S171Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S171Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S171Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S171Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S171Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	171	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S171Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGAATGTGTCTTTCAGCGCA	0.483																																					p.S171Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512A	17						.						148.0	148.0	148.0					17																	76045655		2056	4195	6251	73557250	SO:0001583	missense	57690	exon4			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.512C>A	17.37:g.76045655C>A	ENSP00000468647:p.Ser171Tyr		73557250	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800548	0.70567	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.25749	1.78;1.83;1.83;1.78	5.36	5.36	0.76844	.	0.104145	0.64402	D	0.000002	T	0.51278	0.1665	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.996	T	0.50259	-0.8849	10	0.87932	D	0	-12.1055	19.277	0.94036	0.0:1.0:0.0:0.0	.	171;171;171	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	Y	171	ENSP00000336783:S171Y;ENSP00000301624:S171Y;ENSP00000440310:S171Y;ENSP00000442421:S171Y	ENSP00000301624:S171Y	S	+	2	0	TNRC6C	73557250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.257000	0.78362	2.782000	0.95742	0.655000	0.94253	TCT		0.483	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
DNAH17	8632	broad.mit.edu	37	17	76458996	76458996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76458996C>A	ENST00000585328.1	-	57	9213	c.9089G>T	c.(9088-9090)aGa>aTa	p.R3030I	DNAH17_ENST00000389840.5_Missense_Mutation_p.R3021I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3021	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3030I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTTCCGTTCTCTTCTTGGC	0.557																																					p.R3035I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9104T	17						.						148.0	136.0	140.0					17																	76458996		2203	4300	6503	73970591	SO:0001583	missense	0	exon57			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9089G>T	17.37:g.76458996C>A	ENSP00000465516:p.Arg3030Ile		73970591	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	C	12.52	1.962360	0.34659	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.38560	1.13	5.04	4.05	0.47172	.	0.097942	0.44285	D	0.000473	T	0.45637	0.1352	M	0.81497	2.545	0.42444	D	0.992728	B	0.33044	0.395	B	0.31614	0.133	T	0.45862	-0.9232	10	0.26408	T	0.33	.	15.4477	0.75243	0.0:0.8605:0.1395:0.0	.	3030	E7EUM8	.	I	3030;3021	ENSP00000374490:R3021I	ENSP00000300671:R3030I	R	-	2	0	DNAH17	73970591	0.174000	0.23070	0.546000	0.28166	0.450000	0.32258	3.698000	0.54771	1.102000	0.41551	0.549000	0.68633	AGA		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DNAH17	8632	broad.mit.edu	37	17	76464723	76464723	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76464723G>A	ENST00000585328.1	-	55	8863	c.8739C>T	c.(8737-8739)atC>atT	p.I2913I	DNAH17_ENST00000389840.5_Silent_p.I2904I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2904	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2913I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCACTTTTTCGATGAAGAACT	0.552																																					p.I2918I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8754T	17						.						50.0	51.0	51.0					17																	76464723		1949	4150	6099	73976318	SO:0001819	synonymous_variant	0	exon55			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8739C>T	17.37:g.76464723G>A			73976318	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37																																																																																					0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DNAH17	8632	broad.mit.edu	37	17	76492090	76492090	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76492090G>A	ENST00000585328.1	-	38	5879	c.5755C>T	c.(5755-5757)Cgg>Tgg	p.R1919W	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.R1910W|DNAH17-AS1_ENST00000598378.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1910	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1919W(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTGGCCCGAATTGCATCC	0.512																																					p.R1924W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5770T	17						.						109.0	109.0	109.0					17																	76492090		2013	4196	6209	74003685	SO:0001583	missense	0	exon38			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5755C>T	17.37:g.76492090G>A	ENSP00000465516:p.Arg1919Trp		74003685	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	g	21.5	4.164299	0.78339	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.15256	2.44	4.49	4.49	0.54785	.	.	.	.	.	T	0.48352	0.1495	M	0.92970	3.365	0.48087	D	0.999586	.	.	.	.	.	.	T	0.59815	-0.7383	7	0.87932	D	0	.	12.8435	0.57817	0.0:0.0:0.8369:0.1631	.	.	.	.	W	1919;1910	ENSP00000374490:R1910W	ENSP00000300671:R1919W	R	-	1	2	DNAH17	74003685	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	7.380000	0.79704	2.501000	0.84356	0.537000	0.68136	CGG		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DNAH17	8632	broad.mit.edu	37	17	76511004	76511004	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76511004G>T	ENST00000585328.1	-	26	4080	c.3956C>A	c.(3955-3957)tCt>tAt	p.S1319Y	DNAH17_ENST00000389840.5_Missense_Mutation_p.S1318Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1318	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1319Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTGTCCAAAGACCTCATGTC	0.502																																					p.S1322Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3965A	17						.						160.0	163.0	162.0					17																	76511004		2096	4226	6322	74022599	SO:0001583	missense	0	exon26			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3956C>A	17.37:g.76511004G>T	ENSP00000465516:p.Ser1319Tyr		74022599	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	G	16.31	3.085976	0.55861	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.61980	0.06	5.31	4.32	0.51571	.	.	.	.	.	T	0.75170	0.3813	M	0.77313	2.365	0.09310	N	1	.	.	.	.	.	.	T	0.68484	-0.5396	7	0.62326	D	0.03	.	16.4295	0.83837	0.0:0.1879:0.8121:0.0	.	.	.	.	Y	1319;1318	ENSP00000374490:S1318Y	ENSP00000300671:S1319Y	S	-	2	0	DNAH17	74022599	0.000000	0.05858	0.957000	0.39632	0.990000	0.78478	0.405000	0.21015	2.476000	0.83614	0.563000	0.77884	TCT		0.502	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DNAH17	8632	broad.mit.edu	37	17	76547646	76547646	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76547646T>G	ENST00000585328.1	-	16	2486	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	DNAH17_ENST00000389840.5_Missense_Mutation_p.N788H	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	788	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N788H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTCTATATTTTGTTTTGCC	0.483																																					p.N788H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2362C	17						.						166.0	136.0	146.0					17																	76547646		2203	4299	6502	74059241	SO:0001583	missense	0	exon16			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2362A>C	17.37:g.76547646T>G	ENSP00000465516:p.Asn788His		74059241	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	12.07	1.826897	0.32329	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.26660	1.72	4.78	4.78	0.61160	.	.	.	.	.	T	0.53562	0.1804	M	0.84219	2.685	0.25893	N	0.983449	D	0.76494	0.999	D	0.77004	0.989	T	0.49771	-0.8904	9	0.62326	D	0.03	.	12.8436	0.57817	0.0:0.0:0.0:1.0	.	490	Q9UFH2-4	.	H	788	ENSP00000374490:N788H	ENSP00000300671:N788H	N	-	1	0	DNAH17	74059241	0.998000	0.40836	0.110000	0.21437	0.019000	0.09904	4.988000	0.63863	1.905000	0.55150	0.379000	0.24179	AAT		0.483	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DNAH17	8632	broad.mit.edu	37	17	76567795	76567795	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76567795C>T	ENST00000585328.1	-	4	733	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DNAH17_ENST00000389840.5_Silent_p.Q203Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	203	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q203Q(1)|p.Q203H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCCCGGATCTGGTGGGACC	0.602																																					p.Q203Q												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.G609A	17						.						96.0	103.0	101.0					17																	76567795		2103	4226	6329	74079390	SO:0001819	synonymous_variant	0	exon4			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.609G>A	17.37:g.76567795C>T			74079390	NM_173628	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	IGR	SNP	ENST00000585328.1	37																																																																																					0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
SHBG	6462	broad.mit.edu	37	17	7534935	7534935	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7534935G>A	ENST00000380450.4	+	5	615	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_Missense_Mutation_p.R195H|SHBG_ENST00000416273.3_Missense_Mutation_p.R195H|SHBG_ENST00000340624.5_Missense_Mutation_p.R137H|SHBG_ENST00000572262.1_Missense_Mutation_p.R83H|SHBG_ENST00000574539.1_Missense_Mutation_p.R137H|SHBG_ENST00000570547.1_Missense_Mutation_p.R137H|SHBG_ENST00000576478.1_Missense_Mutation_p.R83H|SHBG_ENST00000575903.1_Intron|SHBG_ENST00000576728.1_Missense_Mutation_p.R83H|SHBG_ENST00000575314.1_Missense_Mutation_p.R137H	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	195	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.R195H(1)|p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GGCTGCCTGCGCCGGGATTCC	0.572																																					p.R195H												.	.	3	Substitution - Missense(1)|Unknown(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)	c.G584A	17						.						109.0	113.0	111.0					17																	7534935		2203	4300	6503	7475660	SO:0001583	missense	6462	exon5				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.584G>A	17.37:g.7534935G>A	ENSP00000369816:p.Arg195His		7475660	NM_001040	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952555	0.34471	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000441313;ENST00000380450	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.84	1.6	0.23607	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87406	0.6169	M	0.89601	3.045	0.09310	N	0.999994	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;P;D;P;D;D;D	0.85130	0.926;0.902;0.877;0.938;0.877;0.997;0.956;0.914	T	0.77362	-0.2616	10	0.87932	D	0	-1.1151	7.2317	0.26046	0.0839:0.0:0.6217:0.2944	.	195;114;141;195;114;168;195;137	F5H5Z8;B0FWH6;E9PH59;E9PGW1;B0FWH5;B0FWH4;P04278;B4DYU0	.;.;.;.;.;.;SHBG_HUMAN;.	H	137;195;195;141;195	ENSP00000345675:R137H;ENSP00000393426:R195H;ENSP00000388867:R195H;ENSP00000369816:R195H	ENSP00000345675:R137H	R	+	2	0	SHBG	7475660	0.222000	0.23652	0.001000	0.08648	0.119000	0.20118	1.513000	0.35823	0.429000	0.26202	0.563000	0.77884	CGC		0.572	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040	
ATP1B2	482	broad.mit.edu	37	17	7557256	7557256	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7557256C>A	ENST00000250111.4	+	3	746	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	113					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.F113L(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCAACAAGTTCTTGGAGCGTG	0.522																																					p.F113L												.	.	4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	c.C339A	17						.						136.0	112.0	120.0					17																	7557256		2203	4300	6503	7497981	SO:0001583	missense	482	exon3			U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.339C>A	17.37:g.7557256C>A	ENSP00000250111:p.Phe113Leu		7497981	NM_001678	A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996852	0.54147	.	.	ENSG00000129244	ENST00000250111	T	0.35605	1.3	5.18	3.19	0.36642	.	0.102585	0.64402	D	0.000002	T	0.30198	0.0757	L	0.55213	1.73	0.52501	D	0.999951	B	0.22541	0.071	B	0.22152	0.038	T	0.10636	-1.0621	10	0.54805	T	0.06	-1.5665	5.6594	0.17660	0.0:0.6612:0.161:0.1779	.	113	P14415	AT1B2_HUMAN	L	113	ENSP00000250111:F113L	ENSP00000250111:F113L	F	+	3	2	ATP1B2	7497981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.428000	0.52792	0.575000	0.29434	0.561000	0.74099	TTC		0.522	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678	
ATP1B2	482	broad.mit.edu	37	17	7558934	7558934	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7558934A>C	ENST00000250111.4	+	6	1106	c.699A>C	c.(697-699)aaA>aaC	p.K233N		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	233	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.K233N(1)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		ACTATGGCAAAAAGTTCCACG	0.602																																					p.K233N												.	.	4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	c.A699C	17						.						117.0	91.0	100.0					17																	7558934		2203	4300	6503	7499659	SO:0001583	missense	482	exon6			U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.699A>C	17.37:g.7558934A>C	ENSP00000250111:p.Lys233Asn		7499659	NM_001678	A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957653	0.34565	.	.	ENSG00000129244	ENST00000250111	T	0.36520	1.25	4.32	-0.762	0.11034	.	0.052242	0.85682	D	0.000000	T	0.28366	0.0701	M	0.62723	1.935	0.44719	D	0.997711	P	0.42785	0.79	B	0.37833	0.259	T	0.03630	-1.1018	10	0.56958	D	0.05	-0.0175	6.1051	0.20069	0.4454:0.1448:0.4098:0.0	.	233	P14415	AT1B2_HUMAN	N	233	ENSP00000250111:K233N	ENSP00000250111:K233N	K	+	3	2	ATP1B2	7499659	1.000000	0.71417	0.989000	0.46669	0.539000	0.34962	1.219000	0.32479	-0.366000	0.08064	-1.843000	0.00578	AAA		0.602	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678	
CYTH1	9267	broad.mit.edu	37	17	76695047	76695047	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:76695047G>T	ENST00000446868.3	-	8	624	c.554C>A	c.(553-555)aCt>aAt	p.T185N	RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000589297.1_Missense_Mutation_p.T126N|CYTH1_ENST00000585509.1_Missense_Mutation_p.T126N|CYTH1_ENST00000591455.1_Missense_Mutation_p.T185N|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.T185N			Q15438	CYH1_HUMAN	cytohesin 1	185	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.T185N(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GACGTAACAAGTATCTAAAGA	0.468																																					p.T185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554A	17						.						177.0	174.0	175.0					17																	76695047		2203	4300	6503	74206642	SO:0001583	missense	9267	exon8			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.554C>A	17.37:g.76695047G>T	ENSP00000389095:p.Thr185Asn		74206642	NM_017456	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668372	0.88348	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.56103	0.48;0.48	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.94142	3.5	0.80722	D	1	D;D	0.67145	0.991;0.996	D;D	0.73708	0.981;0.979	D	0.86585	0.1856	10	0.87932	D	0	.	19.0542	0.93056	0.0:0.0:1.0:0.0	.	185;185	Q15438;Q15438-2	CYH1_HUMAN;.	N	185;185;126;126;185;22	ENSP00000389095:T185N;ENSP00000354398:T185N	ENSP00000262763:T185N	T	-	2	0	CYTH1	74206642	1.000000	0.71417	0.954000	0.39281	0.814000	0.46013	9.726000	0.98782	2.475000	0.83589	0.591000	0.81541	ACT		0.468	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
WRAP53	55135	broad.mit.edu	37	17	7606153	7606153	+	Silent	SNP	C	C	T	rs140635900		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7606153C>T	ENST00000316024.5	+	8	3605	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	WRAP53_ENST00000396463.2_Silent_p.F419F|WRAP53_ENST00000534050.1_Silent_p.F386F|WRAP53_ENST00000457584.2_Silent_p.F419F|WRAP53_ENST00000431639.2_Silent_p.F419F|EFNB3_ENST00000226091.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	419					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.F419F(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCATCTACTTCGATCTGGACC	0.597																																					p.F419F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1257T	17						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	91.0	78.0	82.0		1257,1257,1257,1257	-3.4	0.9	17	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WRAP53	NM_001143990.1,NM_001143991.1,NM_001143992.1,NM_018081.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	419/549,419/549,419/549,419/549	7606153	1,13005	2203	4300	6503	7546878	SO:0001819	synonymous_variant	55135	exon9			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1257C>T	17.37:g.7606153C>T			7546878	NM_001143990	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	CCDS11119.1																																																																																				0.597	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081	
ENPP7	339221	broad.mit.edu	37	17	77705001	77705001	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:77705001C>T	ENST00000328313.5	+	1	321	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.L34F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAACAAGCTGCTCCTGGTGTC	0.652																																					p.L34F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100T	17						.						41.0	37.0	39.0					17																	77705001		2203	4300	6503	75319596	SO:0001583	missense	339221	exon1			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.100C>T	17.37:g.77705001C>T	ENSP00000332656:p.Leu34Phe		75319596	NM_178543		Missense_Mutation	SNP	ENST00000328313.5	37	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411450	0.62399	.	.	ENSG00000182156	ENST00000328313	T	0.80123	-1.34	4.59	3.62	0.41486	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000001	D	0.89213	0.6651	M	0.86502	2.82	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.89341	0.3654	10	0.87932	D	0	-36.9301	9.036	0.36289	0.0:0.8285:0.0:0.1715	.	34	Q6UWV6	ENPP7_HUMAN	F	34	ENSP00000332656:L34F	ENSP00000332656:L34F	L	+	1	0	ENPP7	75319596	1.000000	0.71417	0.709000	0.30452	0.487000	0.33371	3.826000	0.55738	1.143000	0.42306	0.561000	0.74099	CTC		0.652	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543	
CCDC40	55036	broad.mit.edu	37	17	78023758	78023758	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78023758C>T	ENST00000397545.4	+	6	936	c.909C>T	c.(907-909)atC>atT	p.I303I	CCDC40_ENST00000269318.5_Silent_p.I303I|CCDC40_ENST00000374876.4_Silent_p.I303I|CCDC40_ENST00000374877.3_Silent_p.I303I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	303					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.I303I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACCGACAGATCGAAAAGTTGA	0.532																																					p.I303I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C909T	17						.						80.0	88.0	85.0					17																	78023758		2006	4160	6166	75638353	SO:0001819	synonymous_variant	55036	exon6			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.909C>T	17.37:g.78023758C>T			75638353	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																				0.532	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	
DNAH2	146754	broad.mit.edu	37	17	7626992	7626992	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7626992G>A	ENST00000572933.1	+	3	1673	c.213G>A	c.(211-213)gaG>gaA	p.E71E	DNAH2_ENST00000570791.1_Silent_p.E71E|DNAH2_ENST00000082259.3_Silent_p.E71E|DNAH2_ENST00000389173.2_Silent_p.E71E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	71	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E71E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATCAGTGGAGCCCGAGGCAG	0.478																																					p.E71E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G213A	17						.						140.0	121.0	127.0					17																	7626992		2203	4300	6503	7567717	SO:0001819	synonymous_variant	146754	exon2			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.213G>A	17.37:g.7626992G>A			7567717	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
CCDC40	55036	broad.mit.edu	37	17	78032705	78032705	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78032705G>T	ENST00000397545.4	+	9	1393	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	CCDC40_ENST00000269318.5_Missense_Mutation_p.D456Y|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.D456Y	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	456					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D456Y(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTGGAAGAAGACATTGCCCT	0.572																																					p.D456Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1366T	17						.						102.0	107.0	106.0					17																	78032705		2090	4214	6304	75647300	SO:0001583	missense	55036	exon9			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1366G>T	17.37:g.78032705G>T	ENSP00000380679:p.Asp456Tyr		75647300	NM_017950	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590674	0.13812	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.86164	0.87;-2.08;0.89	4.7	-0.126	0.13515	.	.	.	.	.	T	0.81749	0.4888	L	0.34521	1.04	0.09310	N	1	D;D	0.56287	0.958;0.975	P;P	0.47346	0.456;0.544	T	0.71751	-0.4498	9	0.59425	D	0.04	-9.8833	8.2668	0.31819	0.3749:0.423:0.202:0.0	.	456;239	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	Y	456	ENSP00000364011:D456Y;ENSP00000269318:D456Y;ENSP00000380679:D456Y	ENSP00000269318:D456Y	D	+	1	0	CCDC40	75647300	0.154000	0.22792	0.000000	0.03702	0.001000	0.01503	1.023000	0.30065	-0.346000	0.08312	-0.768000	0.03414	GAC		0.572	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	
SLC26A11	284129	broad.mit.edu	37	17	78201627	78201627	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78201627G>A	ENST00000361193.3	+	7	884	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	SLC26A11_ENST00000546047.2_Missense_Mutation_p.A202T|SLC26A11_ENST00000572725.1_Missense_Mutation_p.A202T|SLC26A11_ENST00000411502.3_Missense_Mutation_p.A202T	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.A202T(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGTAGGTGACGCCGTCCTGGG	0.652																																					p.A202T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604A	17						.						113.0	98.0	103.0					17																	78201627		2203	4300	6503	75816222	SO:0001583	missense	284129	exon6				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.604G>A	17.37:g.78201627G>A	ENSP00000355384:p.Ala202Thr		75816222	NM_001166349		Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177757	0.06380	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93426	-3.22;-3.22;-3.22	4.52	3.53	0.40419	Sulphate transporter (1);	0.269290	0.37053	N	0.002274	D	0.85822	0.5786	N	0.25992	0.78	0.21499	N	0.999666	B	0.27316	0.175	B	0.23275	0.045	T	0.72187	-0.4366	10	0.17369	T	0.5	-22.9221	10.764	0.46281	0.0928:0.0:0.9072:0.0	.	202	Q86WA9	S2611_HUMAN	T	202	ENSP00000403998:A202T;ENSP00000440724:A202T;ENSP00000355384:A202T	ENSP00000355384:A202T	A	+	1	0	SLC26A11	75816222	0.925000	0.31364	0.044000	0.18714	0.069000	0.16628	4.350000	0.59392	2.060000	0.61445	0.491000	0.48974	GCC		0.652	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		
RNF213	57674	broad.mit.edu	37	17	78317012	78317012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78317012C>T	ENST00000582970.1	+	27	6213	c.6070C>T	c.(6070-6072)Cga>Tga	p.R2024*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.R2073*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.R97*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2024					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R97*(1)|p.R2073*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAAAACAATTCGACTGATCGA	0.488																																					p.R2073X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C6217T	17						.						83.0	74.0	77.0					17																	78317012		2203	4300	6503	75931607	SO:0001587	stop_gained	57674	exon28			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6070C>T	17.37:g.78317012C>T	ENSP00000464087:p.Arg2024*		75931607	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	48	14.336948	0.99790	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9964	0.71436	0.1758:0.8242:0.0:0.0	.	.	.	.	X	2024;2073;97	.	ENSP00000338218:R97X	R	+	1	2	RNF213	75931607	0.963000	0.33076	0.258000	0.24420	0.671000	0.39405	1.597000	0.36729	2.815000	0.96918	0.650000	0.86243	CGA		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	broad.mit.edu	37	17	78337501	78337501	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78337501G>T	ENST00000582970.1	+	41	11804	c.11661G>T	c.(11659-11661)aaG>aaT	p.K3887N	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3936N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1960N|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3887					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K3936N(1)|p.K1960N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGTGAAGAATCTTTCCA	0.602																																					p.K3936N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11808T	17						.						85.0	57.0	67.0					17																	78337501		2202	4300	6502	75952096	SO:0001583	missense	57674	exon42			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11661G>T	17.37:g.78337501G>T	ENSP00000464087:p.Lys3887Asn		75952096	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413857	0.42817	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25085	1.82	4.9	0.62	0.17637	.	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.79805	2.47	0.29104	N	0.881278	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	T	0.38607	-0.9653	10	0.72032	D	0.01	.	8.6113	0.33804	0.3769:0.0:0.6231:0.0	.	3936;1960	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3887;3936;1960	ENSP00000338218:K1960N	ENSP00000338218:K1960N	K	+	3	2	RNF213	75952096	0.999000	0.42202	0.708000	0.30435	0.135000	0.20990	1.732000	0.38146	0.476000	0.27440	0.563000	0.77884	AAG		0.602	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
RNF213	57674	broad.mit.edu	37	17	78356790	78356790	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78356790T>G	ENST00000582970.1	+	58	14133	c.13990T>G	c.(13990-13992)Ttt>Gtt	p.F4664V	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4713V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2737V|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4664					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F4713V(1)|p.F2737V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTTTAAATTTTGACACAGA	0.383																																					p.F4713V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T14137G	17						.						91.0	87.0	88.0					17																	78356790		2203	4300	6503	75971385	SO:0001583	missense	57674	exon59			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13990T>G	17.37:g.78356790T>G	ENSP00000464087:p.Phe4664Val		75971385	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953245	0.73902	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.61392	1.38;0.11	5.5	5.5	0.81552	.	0.156358	0.46145	D	0.000309	T	0.71500	0.3347	M	0.78637	2.42	0.31469	N	0.668628	D	0.63880	0.993	P	0.58520	0.84	T	0.76629	-0.2889	10	0.41790	T	0.15	.	13.5839	0.61919	0.0:0.0:0.0:1.0	.	2737	Q63HN8	RN213_HUMAN	V	4664;4713;2737;14	ENSP00000425956:F4664V;ENSP00000338218:F2737V	ENSP00000338218:F2737V	F	+	1	0	RNF213	75971385	0.987000	0.35691	0.018000	0.16275	0.043000	0.13939	2.831000	0.48144	2.089000	0.63090	0.528000	0.53228	TTT		0.383	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
DNAH2	146754	broad.mit.edu	37	17	7662299	7662299	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7662299A>G	ENST00000572933.1	+	15	3765	c.2305A>G	c.(2305-2307)Aaa>Gaa	p.K769E	DNAH2_ENST00000389173.2_Missense_Mutation_p.K769E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	769	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K769E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CATTAGTGGCAAACGGGTATA	0.507																																					p.K769E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2305G	17						.						99.0	88.0	92.0					17																	7662299		2203	4300	6503	7603024	SO:0001583	missense	146754	exon14			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2305A>G	17.37:g.7662299A>G	ENSP00000458355:p.Lys769Glu		7603024	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282696	0.80692	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24908	1.83	5.42	5.42	0.78866	.	0.192518	0.41097	D	0.000960	T	0.43144	0.1234	M	0.75264	2.295	0.80722	D	1	P	0.51537	0.946	P	0.57620	0.824	T	0.35226	-0.9797	10	0.12430	T	0.62	.	14.4448	0.67342	1.0:0.0:0.0:0.0	.	769	Q9P225	DYH2_HUMAN	E	769	ENSP00000373825:K769E	ENSP00000353818:K769E	K	+	1	0	DNAH2	7603024	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.717000	0.68446	2.051000	0.60960	0.454000	0.30748	AAA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7696462	7696462	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7696462G>A	ENST00000572933.1	+	48	8968	c.7508G>A	c.(7507-7509)cGc>cAc	p.R2503H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2503H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2503	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2503H(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGCTGATCCGCCTCTGGATT	0.522																																					p.R2503H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7508A	17						.						97.0	87.0	91.0					17																	7696462		2203	4300	6503	7637187	SO:0001583	missense	146754	exon47			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7508G>A	17.37:g.7696462G>A	ENSP00000458355:p.Arg2503His		7637187	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186123	0.78789	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.51071	0.72	4.39	4.39	0.52855	ATPase, AAA+ type, core (1);	0.301950	0.32015	N	0.006705	T	0.72326	0.3446	H	0.97783	4.075	0.80722	D	1	B	0.31680	0.335	B	0.42138	0.377	T	0.80957	-0.1150	10	0.72032	D	0.01	.	15.9412	0.79756	0.0:0.0:1.0:0.0	.	2503	Q9P225	DYH2_HUMAN	H	2503	ENSP00000373825:R2503H	ENSP00000353818:R2503H	R	+	2	0	DNAH2	7637187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.328000	0.79160	2.295000	0.77249	0.632000	0.83419	CGC		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7700784	7700784	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7700784G>T	ENST00000572933.1	+	52	9476	c.8016G>T	c.(8014-8016)aaG>aaT	p.K2672N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K2672N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2672					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2672N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGCGACAAGCTCGGCTCCT	0.547																																					p.K2672N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8016T	17						.						134.0	134.0	134.0					17																	7700784		2203	4300	6503	7641509	SO:0001583	missense	146754	exon51			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8016G>T	17.37:g.7700784G>T	ENSP00000458355:p.Lys2672Asn		7641509	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658778	0.14645	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23754	1.89	5.08	-1.44	0.08856	.	0.053932	0.64402	D	0.000001	T	0.19927	0.0479	M	0.76002	2.32	0.80722	D	1	P	0.38582	0.638	B	0.28553	0.091	T	0.30446	-0.9978	10	0.12766	T	0.61	.	11.9181	0.52778	0.4302:0.0:0.5698:0.0	.	2672	Q9P225	DYH2_HUMAN	N	2672	ENSP00000373825:K2672N	ENSP00000353818:K2672N	K	+	3	2	DNAH2	7641509	0.998000	0.40836	0.982000	0.44146	0.214000	0.24535	0.462000	0.21956	-0.435000	0.07264	-0.300000	0.09419	AAG		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
RNF213	57674	broad.mit.edu	37	17	78367182	78367182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78367182G>T	ENST00000582970.1	+	68	15651	c.15508G>T	c.(15508-15510)Gaa>Taa	p.E5170*	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E5219*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.E3243*|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5170					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E5219*(1)|p.E3243*(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAAACTAAAGAAAGTGAAAT	0.443																																					p.E5219X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G15655T	17						.						94.0	87.0	90.0					17																	78367182		2203	4300	6503	75981777	SO:0001587	stop_gained	57674	exon69			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15508G>T	17.37:g.78367182G>T	ENSP00000464087:p.Glu5170*		75981777	NM_020914	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	49	16.022425	0.99852	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	.	.	.	4.46	3.46	0.39613	.	0.708972	0.13120	N	0.412242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.7829	0.63093	0.0:0.0:0.8452:0.1548	.	.	.	.	X	5170;5219;3243;520	.	ENSP00000338218:E3243X	E	+	1	0	RNF213	75981777	1.000000	0.71417	0.236000	0.24074	0.392000	0.30506	4.433000	0.59929	0.963000	0.38082	0.563000	0.77884	GAA		0.443	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
DNAH2	146754	broad.mit.edu	37	17	7708654	7708654	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7708654G>A	ENST00000572933.1	+	61	10845	c.9385G>A	c.(9385-9387)Gca>Aca	p.A3129T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A3129T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3129	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3129T(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTGATGCAGGCAGTTATGAT	0.522																																					p.A3129T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9385A	17						.						107.0	102.0	104.0					17																	7708654		2203	4300	6503	7649379	SO:0001583	missense	146754	exon60			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9385G>A	17.37:g.7708654G>A	ENSP00000458355:p.Ala3129Thr		7649379	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018675	0.93404	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.80214	-1.35	5.62	4.63	0.57726	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93075	0.6486	10	0.87932	D	0	.	15.3655	0.74519	0.0:0.1405:0.8595:0.0	.	3090;3129	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3090;3129	ENSP00000373825:A3129T	ENSP00000353818:A3090T	A	+	1	0	DNAH2	7649379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.593000	0.90832	1.355000	0.45865	0.655000	0.94253	GCA		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7721733	7721733	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7721733G>T	ENST00000572933.1	+	69	11951	c.10491G>T	c.(10489-10491)gaG>gaT	p.E3497D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3497D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3497	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3497D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAGCCCAGAGACCTCAGCCA	0.507																																					p.E3497D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10491T	17						.						227.0	218.0	221.0					17																	7721733		2203	4300	6503	7662458	SO:0001583	missense	146754	exon68			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10491G>T	17.37:g.7721733G>T	ENSP00000458355:p.Glu3497Asp		7662458	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710137	0.68730	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.30448	1.53	4.99	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49224	-0.8962	10	0.87932	D	0	.	8.1821	0.31317	0.3297:0.0:0.6703:0.0	.	3458;3497	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3458;3497	ENSP00000373825:E3497D	ENSP00000353818:E3458D	E	+	3	2	DNAH2	7662458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.409000	0.52657	0.314000	0.23086	0.655000	0.94253	GAG		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
RPTOR	57521	broad.mit.edu	37	17	78866640	78866640	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:78866640C>A	ENST00000306801.3	+	19	2575	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	738					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.S738Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAACAAATCTTTGCAGAAC	0.498																																					p.S738Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2213A	17						.						112.0	125.0	121.0					17																	78866640		2203	4300	6503	76481235	SO:0001583	missense	57521	exon19				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2213C>A	17.37:g.78866640C>A	ENSP00000307272:p.Ser738Tyr		76481235	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007190	0.54361	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.54071	0.81;0.59	4.65	3.68	0.42216	Armadillo-type fold (1);	0.153836	0.45361	D	0.000377	T	0.58495	0.2126	L	0.38175	1.15	0.80722	D	1	D;P	0.64830	0.994;0.826	D;B	0.77004	0.989;0.196	T	0.51276	-0.8726	10	0.15952	T	0.53	.	12.5375	0.56150	0.0:0.9186:0.0:0.0814	.	580;738	F5H7J5;Q8N122	.;RPTOR_HUMAN	Y	738;580	ENSP00000307272:S738Y;ENSP00000442479:S580Y	ENSP00000307272:S738Y	S	+	2	0	RPTOR	76481235	1.000000	0.71417	0.073000	0.20177	0.596000	0.36781	4.879000	0.63100	0.958000	0.37956	0.650000	0.86243	TCT		0.498	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
SLC38A10	124565	broad.mit.edu	37	17	79226320	79226320	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:79226320C>T	ENST00000374759.3	-	13	2003	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	SLC38A10_ENST00000288439.5_Silent_p.P540P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	540					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P540P(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGGCAGAGGCGGCGCCATCT	0.622																																					p.P540P												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.G1620A	17						.						50.0	52.0	51.0					17																	79226320		2203	4300	6503	76840915	SO:0001819	synonymous_variant	124565	exon13			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1620G>A	17.37:g.79226320C>T			76840915	NM_138570	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.622	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
CHD3	1107	broad.mit.edu	37	17	7804220	7804220	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7804220G>A	ENST00000330494.7	+	19	3179	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	CHD3_ENST00000358181.4_Missense_Mutation_p.R1010Q|CHD3_ENST00000380358.4_Missense_Mutation_p.R1069Q	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1010					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1010Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGAATTCACGAGGTGGTGGG	0.418																																					p.R1010Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3029A	17						.						108.0	101.0	103.0					17																	7804220		2203	4300	6503	7744945	SO:0001583	missense	1107	exon19			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3029G>A	17.37:g.7804220G>A	ENSP00000332628:p.Arg1010Gln		7744945	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624353	0.46840	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75154	-0.91;-0.91;-0.91	4.95	4.95	0.65309	SNF2-related (1);	0.000000	0.37955	N	0.001879	T	0.63022	0.2476	L	0.28400	0.85	0.42650	D	0.993445	P;P;D	0.53151	0.876;0.898;0.958	B;B;B	0.41299	0.131;0.207;0.353	T	0.69537	-0.5119	10	0.72032	D	0.01	-6.6537	12.5678	0.56320	0.0873:0.0:0.9127:0.0	.	1010;1010;1069	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Q	1069;1010;1010	ENSP00000369716:R1069Q;ENSP00000350907:R1010Q;ENSP00000332628:R1010Q	ENSP00000332628:R1010Q	R	+	2	0	CHD3	7744945	0.027000	0.19231	1.000000	0.80357	0.988000	0.76386	1.875000	0.39578	2.744000	0.94065	0.561000	0.74099	CGA		0.418	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
CHD3	1107	broad.mit.edu	37	17	7811765	7811765	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7811765C>T	ENST00000330494.7	+	35	5348	c.5198C>T	c.(5197-5199)tCg>tTg	p.S1733L	CHD3_ENST00000358181.4_Missense_Mutation_p.S1699L|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000380358.4_Missense_Mutation_p.S1792L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1733	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1733L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCTATTTCCTCGGGGAAACTC	0.483																																					p.S1699L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5096T	17						.						89.0	80.0	83.0					17																	7811765		2203	4300	6503	7752490	SO:0001583	missense	1107	exon34			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5198C>T	17.37:g.7811765C>T	ENSP00000332628:p.Ser1733Leu		7752490	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704859	0.68615	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.90844	-2.74;-2.71;-2.68	4.45	4.45	0.53987	.	0.000000	0.41294	D	0.000920	D	0.93446	0.7909	L	0.46157	1.445	0.80722	D	1	D;D;P;D	0.89917	1.0;0.982;0.833;0.991	D;P;B;P	0.76575	0.988;0.689;0.256;0.874	D	0.94263	0.7504	10	0.72032	D	0.01	-9.7893	17.2758	0.87114	0.0:1.0:0.0:0.0	.	310;1699;1733;1792	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	L	1792;1699;1733;61;25	ENSP00000369716:S1792L;ENSP00000350907:S1699L;ENSP00000332628:S1733L	ENSP00000332628:S1733L	S	+	2	0	CHD3	7752490	1.000000	0.71417	0.992000	0.48379	0.743000	0.42351	7.651000	0.83577	2.311000	0.77944	0.561000	0.74099	TCG		0.483	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
NPLOC4	55666	broad.mit.edu	37	17	79564278	79564278	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:79564278C>T	ENST00000331134.6	-	10	1201	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	NPLOC4_ENST00000374747.5_Missense_Mutation_p.R329Q|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R168Q	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	329					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R329Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CACCTTATTTCGACTGTAGCG	0.488																																					p.R329Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G986A	17						.						131.0	131.0	131.0					17																	79564278		2066	4193	6259	77174716	SO:0001583	missense	55666	exon10			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.986G>A	17.37:g.79564278C>T	ENSP00000331487:p.Arg329Gln		77174716	NM_017921	Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089099	0.94100	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	H	0.94771	3.58	0.80722	D	1	D;P;P	0.61080	0.989;0.919;0.785	P;B;P	0.55615	0.78;0.374;0.518	D	0.88903	0.3354	9	0.87932	D	0	-12.4761	19.9063	0.97008	0.0:1.0:0.0:0.0	.	168;329;329	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Q	329;328;168	.	ENSP00000331487:R329Q	R	-	2	0	NPLOC4	77174716	1.000000	0.71417	0.965000	0.40720	0.987000	0.75469	7.314000	0.78988	2.774000	0.95407	0.644000	0.83932	CGA		0.488	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1		
CSNK1D	1453	broad.mit.edu	37	17	80209401	80209401	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80209401C>T	ENST00000314028.6	-	6	1088	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	CSNK1D_ENST00000398519.5_Missense_Mutation_p.E247K|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Missense_Mutation_p.E247K	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E247K(2)		breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GTGGCAAATTCGGCTACAAAA	0.502																																					p.E247K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G739A	17						.						85.0	81.0	82.0					17																	80209401		2203	4300	6503	77802690	SO:0001583	missense	1453	exon6				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.739G>A	17.37:g.80209401C>T	ENSP00000324464:p.Glu247Lys		77802690	NM_139062	A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464810	0.63513	.	.	ENSG00000141551	ENST00000314028;ENST00000392334;ENST00000398519;ENST00000269361	T;T	0.06528	3.29;3.29	5.13	5.13	0.70059	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.976;0.986	T	0.56245	-0.8011	10	0.87932	D	0	.	17.9504	0.89051	0.0:1.0:0.0:0.0	.	136;247;247;190	B4DIJ9;P48730;P48730-2;B4E0G1	.;KC1D_HUMAN;.;.	K	247;247;190;139	ENSP00000324464:E247K;ENSP00000376146:E247K	ENSP00000269361:E139K	E	-	1	0	CSNK1D	77802690	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	7.713000	0.84693	2.557000	0.86248	0.655000	0.94253	GAA		0.502	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062	
NARF	26502	broad.mit.edu	37	17	80422268	80422268	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80422268A>C	ENST00000309794.11	+	3	412	c.214A>C	c.(214-216)Aat>Cat	p.N72H	NARF_ENST00000345415.7_Intron|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000457415.3_Missense_Mutation_p.N72H|NARF_ENST00000390006.4_Missense_Mutation_p.N13H	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	72						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.N72H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TTCCCAGCAAAATGCCAAGGA	0.512																																					p.N72H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A214C	17						.						115.0	98.0	104.0					17																	80422268		2203	4300	6503	78015557	SO:0001583	missense	26502	exon3			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.214A>C	17.37:g.80422268A>C	ENSP00000309899:p.Asn72His		78015557	NM_031968	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	A	6.858	0.527697	0.13127	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000457415	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.41	4.34	0.51931	Iron hydrogenase (1);	0.111171	0.64402	D	0.000006	T	0.39989	0.1099	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.989	D;D;P;P	0.68353	0.935;0.957;0.907;0.8	T	0.16335	-1.0406	10	0.66056	D	0.02	-20.4886	10.3735	0.44068	0.9232:0.0:0.0768:0.0	.	72;72;72;72	B4DND8;Q9UHQ1-2;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	H	13;72;72;72	ENSP00000374656:N13H;ENSP00000363739:N72H;ENSP00000309899:N72H;ENSP00000414678:N72H	ENSP00000309899:N72H	N	+	1	0	NARF	78015557	1.000000	0.71417	0.684000	0.30055	0.006000	0.05464	5.567000	0.67378	0.908000	0.36671	0.459000	0.35465	AAT		0.512	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	
NARF	26502	broad.mit.edu	37	17	80441626	80441626	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80441626C>A	ENST00000309794.11	+	8	1002	c.804C>A	c.(802-804)ctC>ctA	p.L268L	NARF_ENST00000345415.7_Silent_p.L220L|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000412079.2_Silent_p.L140L|NARF_ENST00000457415.3_Silent_p.L314L|NARF_ENST00000390006.4_Silent_p.L209L	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	268						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.L314L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AAGGTGACCTCTCAGTGAGAG	0.547																																					p.L314L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C942A	17						.						126.0	112.0	117.0					17																	80441626		2203	4300	6503	78034915	SO:0001819	synonymous_variant	26502	exon9			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.804C>A	17.37:g.80441626C>A			78034915	NM_031968	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	CCDS32777.1																																																																																				0.547	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	
WDR45B	56270	broad.mit.edu	37	17	80574409	80574409	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80574409C>T	ENST00000392325.4	-	9	1113	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	307								p.A307T(1)									CCAATGACGGCGTTTGGCTCT	0.547																																					p.A307T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	17						.						133.0	133.0	133.0					17																	80574409		2203	4300	6503	78167698	SO:0001583	missense	56270	exon9			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.919G>A	17.37:g.80574409C>T	ENSP00000376139:p.Ala307Thr		78167698	NM_019613	O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294017	0.40594	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.76968	-1.06	5.11	5.11	0.69529	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051815	0.85682	D	0.000000	T	0.41119	0.1145	N	0.00453	-1.485	0.80722	D	1	B	0.18863	0.031	B	0.08055	0.003	T	0.55792	-0.8085	10	0.02654	T	1	-13.6707	12.6028	0.56506	0.2896:0.7104:0.0:0.0	.	307	Q5MNZ6	WIPI3_HUMAN	T	307;279	ENSP00000376139:A307T	ENSP00000376139:A307T	A	-	1	0	WDR45L	78167698	0.996000	0.38824	0.644000	0.29465	0.491000	0.33493	3.414000	0.52693	2.540000	0.85666	0.563000	0.77884	GCC		0.547	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613	
WDR45B	56270	broad.mit.edu	37	17	80583286	80583286	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80583286C>T	ENST00000392325.4	-	5	600	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	136								p.E136K(1)									TAGCAGGTTTCGAAGACGTGC	0.488																																					p.E136K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	17						.						145.0	120.0	129.0					17																	80583286		2203	4300	6503	78176575	SO:0001583	missense	56270	exon5			AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.406G>A	17.37:g.80583286C>T	ENSP00000376139:p.Glu136Lys		78176575	NM_019613	O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	-	17.11	3.305555	0.60305	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.62639	0.01	4.54	4.54	0.55810	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047590	0.85682	D	0.000000	T	0.66177	0.2763	M	0.86953	2.85	0.80722	D	1	P	0.46859	0.885	B	0.36885	0.235	T	0.76924	-0.2779	10	0.54805	T	0.06	-43.4622	17.664	0.88199	0.0:1.0:0.0:0.0	.	136	Q5MNZ6	WIPI3_HUMAN	K	136;108	ENSP00000376139:E136K	ENSP00000376139:E136K	E	-	1	0	WDR45L	78176575	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.240000	0.78192	2.244000	0.73946	0.552000	0.68991	GAA		0.488	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613	
ZNF750	79755	broad.mit.edu	37	17	80789200	80789200	+	Silent	SNP	G	G	A	rs371946502		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80789200G>A	ENST00000269394.3	-	2	1964	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	377					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F377F(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGGACTTTCGAACTCGACGT	0.567																																					p.F377F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1131T	17						.						88.0	95.0	93.0					17																	80789200		2203	4300	6503	78382489	SO:0001819	synonymous_variant	79755	exon2			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1131C>T	17.37:g.80789200G>A			78382489	NM_024702	Q9H899	Silent	SNP	ENST00000269394.3	37	CCDS11819.1																																																																																				0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	
GUCY2D	3000	broad.mit.edu	37	17	7907334	7907334	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7907334G>A	ENST00000254854.4	+	3	1036	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	296					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.A296T(1)		skin(1)	1		Prostate(122;0.157)				GGCCGCACTCGCCAACAGCTC	0.682																																					p.A296T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	17						.						91.0	94.0	93.0					17																	7907334		2203	4300	6503	7848059	SO:0001583	missense	3000	exon3			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.886G>A	17.37:g.7907334G>A	ENSP00000254854:p.Ala296Thr		7848059	NM_000180	Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	1.301	-0.604947	0.03717	.	.	ENSG00000132518	ENST00000254854	D	0.82984	-1.67	4.53	1.19	0.21007	Extracellular ligand-binding receptor (1);	0.493342	0.17155	N	0.184900	T	0.61937	0.2387	N	0.16602	0.42	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.41161	-0.9524	10	0.10377	T	0.69	.	4.1705	0.10327	0.2775:0.0:0.5482:0.1743	.	296	Q02846	GUC2D_HUMAN	T	296	ENSP00000254854:A296T	ENSP00000254854:A296T	A	+	1	0	GUCY2D	7848059	0.013000	0.17824	0.410000	0.26471	0.123000	0.20343	1.113000	0.31184	0.526000	0.28541	-0.314000	0.08810	GCC		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2		
ALOX12B	242	broad.mit.edu	37	17	7983557	7983557	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:7983557G>T	ENST00000319144.4	-	6	1010	c.750C>A	c.(748-750)gtC>gtA	p.V250V	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D80Y|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	250	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.V250V(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCATACCGGAGACGACAGATT	0.612										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V250V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750A	17						.						80.0	94.0	89.0					17																	7983557		2203	4300	6503	7924282	SO:0001819	synonymous_variant	242	exon6			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.750C>A	17.37:g.7983557G>T		645	7924282	NM_001139		Silent	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511165	0.27036	.	.	ENSG00000214999	ENST00000399413	.	.	.	4.85	3.88	0.44766	.	.	.	.	.	T	0.61800	0.2376	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63616	-0.6597	5	0.87932	D	0	-9.4964	6.422	0.21748	0.0949:0.0:0.7252:0.1799	.	.	.	.	Y	80	.	ENSP00000382345:D80Y	D	+	1	0	AC129492.6	7924282	1.000000	0.71417	0.895000	0.35142	0.191000	0.23601	2.413000	0.44618	1.178000	0.42870	0.555000	0.69702	GAC		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
ALOXE3	59344	broad.mit.edu	37	17	8015449	8015449	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8015449A>G	ENST00000448843.2	-	7	1086	c.746T>C	c.(745-747)aTg>aCg	p.M249T	ALOXE3_ENST00000318227.3_Missense_Mutation_p.M381T|ALOXE3_ENST00000380149.1_Missense_Mutation_p.M405T	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	249	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.M249T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GATGTTCTGCATGTCATCCAG	0.537																																					p.M381T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1142C	17						.						209.0	174.0	186.0					17																	8015449		2203	4300	6503	7956174	SO:0001583	missense	59344	exon7			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.746T>C	17.37:g.8015449A>G	ENSP00000400581:p.Met249Thr		7956174	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813369	0.32053	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89875	-2.58;-2.58;-2.58	5.87	5.87	0.94306	Lipoxygenase, C-terminal (2);	0.453231	0.27275	N	0.020103	D	0.90154	0.6923	M	0.67953	2.075	0.33032	D	0.530294	B;B;B	0.29671	0.031;0.254;0.254	B;B;B	0.38880	0.071;0.191;0.284	D	0.92906	0.6343	10	0.72032	D	0.01	-4.0561	15.5573	0.76208	1.0:0.0:0.0:0.0	.	381;249;249	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	T	405;381;249	ENSP00000369494:M405T;ENSP00000314879:M381T;ENSP00000400581:M249T	ENSP00000314879:M381T	M	-	2	0	ALOXE3	7956174	1.000000	0.71417	0.295000	0.24960	0.103000	0.19146	7.287000	0.78681	2.371000	0.80710	0.533000	0.62120	ATG		0.537	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
ARHGEF15	22899	broad.mit.edu	37	17	8218583	8218583	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8218583G>A	ENST00000361926.3	+	6	1358	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	ARHGEF15_ENST00000421050.1_Silent_p.R416R|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	416					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R416R(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCAGGAGAGGCGCATGCAGG	0.677																																					p.R416R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1248A	17						.						20.0	22.0	21.0					17																	8218583		2202	4300	6502	8159308	SO:0001819	synonymous_variant	22899	exon6			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1248G>A	17.37:g.8218583G>A			8159308	NM_173728	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	CCDS11139.1																																																																																				0.677	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728	
KRBA2	124751	broad.mit.edu	37	17	8272583	8272583	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8272583G>T	ENST00000331336.2	-	2	1353	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.L368I|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	450					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.L450I(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTGATCCAAAGGCTATTTTCT	0.468																																					p.L450I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1348A	17						.						146.0	140.0	142.0					17																	8272583		2203	4300	6503	8213308	SO:0001583	missense	124751	exon2			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1348C>A	17.37:g.8272583G>T	ENSP00000328017:p.Leu450Ile		8213308	NM_213597	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	g	6.986	0.552088	0.13374	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.26223	1.76;1.75	2.78	-0.421	0.12332	.	.	.	.	.	T	0.13500	0.0327	L	0.34521	1.04	0.20764	N	0.999851	P	0.39809	0.689	B	0.30716	0.119	T	0.16958	-1.0385	9	0.87932	D	0	.	3.3176	0.07039	0.2658:0.2207:0.5135:0.0	.	450	Q6ZNG9	KRBA2_HUMAN	I	368;450	ENSP00000379565:L368I;ENSP00000328017:L450I	ENSP00000328017:L450I	L	-	1	0	KRBA2	8213308	0.550000	0.26489	0.975000	0.42487	0.513000	0.34164	-0.147000	0.10234	-0.039000	0.13602	-0.145000	0.13849	CTT		0.468	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
KRBA2	124751	broad.mit.edu	37	17	8273384	8273384	+	Nonsense_Mutation	SNP	G	G	A	rs202118881	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8273384G>A	ENST00000331336.2	-	2	552	c.547C>T	c.(547-549)Cga>Tga	p.R183*	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Nonsense_Mutation_p.R101*|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	183					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R183*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACCGTATTCGATCACGTTCT	0.438													G|||	8	0.00159744	0.0	0.0	5008	,	,		20956	0.0079		0.0	False		,,,				2504	0.0				p.R183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	17						.						206.0	186.0	192.0					17																	8273384		2203	4300	6503	8214109	SO:0001587	stop_gained	124751	exon2			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.547C>T	17.37:g.8273384G>A	ENSP00000328017:p.Arg183*		8214109	NM_213597	Q8IYY0	Nonsense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	12.75	2.031138	0.35797	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	.	.	.	2.42	1.44	0.22558	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	5.1214	0.14862	0.167:0.0:0.833:0.0	.	.	.	.	X	101;183	.	ENSP00000328017:R183X	R	-	1	2	KRBA2	8214109	0.000000	0.05858	0.012000	0.15200	0.581000	0.36288	-0.317000	0.08060	0.602000	0.29896	0.555000	0.69702	CGA		0.438	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
KRBA2	124751	broad.mit.edu	37	17	8274823	8274823	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8274823G>T	ENST00000331336.2	-	1	35	c.30C>A	c.(28-30)gtC>gtA	p.V10V	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Intron|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	10					DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.V10V(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTGGGGAAGAGACAAGAGAGG	0.478																																					p.V10V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30A	17						.						61.0	65.0	63.0					17																	8274823		2203	4300	6503	8215548	SO:0001819	synonymous_variant	124751	exon1			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.30C>A	17.37:g.8274823G>T			8215548	NM_213597	Q8IYY0	Silent	SNP	ENST00000331336.2	37	CCDS11141.1																																																																																				0.478	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
NDEL1	81565	broad.mit.edu	37	17	8354128	8354128	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8354128G>T	ENST00000334527.7	+	6	754	c.557G>T	c.(556-558)aGa>aTa	p.R186I	NDEL1_ENST00000299734.7_Missense_Mutation_p.R186I|NDEL1_ENST00000402554.3_Missense_Mutation_p.R186I|NDEL1_ENST00000380025.4_Missense_Mutation_p.R186I|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	186	Interaction with CENPF.|Interaction with KATNB1. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.R186I(1)		large_intestine(6)|lung(4)|skin(3)	13						GTTCGGGAAAGACAACAGGAA	0.443																																					p.R186I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557T	17						.						67.0	59.0	62.0					17																	8354128		2203	4300	6503	8294853	SO:0001583	missense	81565	exon6			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.557G>T	17.37:g.8354128G>T	ENSP00000333982:p.Arg186Ile		8294853	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500577	0.85176	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.98	4.98	0.66077	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72676	0.3490	M	0.62723	1.935	0.80722	D	1	P;P	0.44380	0.589;0.834	P;P	0.52598	0.589;0.703	T	0.74996	-0.3473	9	0.66056	D	0.02	-3.1886	18.8054	0.92035	0.0:0.0:1.0:0.0	.	186;186	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	I	186;186;241;186	.	ENSP00000299734:R186I	R	+	2	0	NDEL1	8294853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.081000	0.76844	2.744000	0.94065	0.655000	0.94253	AGA		0.443	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
NDEL1	81565	broad.mit.edu	37	17	8363345	8363345	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8363345G>A	ENST00000334527.7	+	8	1008	c.811G>A	c.(811-813)Gca>Aca	p.A271T	NDEL1_ENST00000299734.7_Missense_Mutation_p.A271T|NDEL1_ENST00000402554.3_Missense_Mutation_p.A271T|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	271	Interaction with CENPF.|Interaction with DISC1.|Interaction with NEFL. {ECO:0000250}.|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.A271T(2)		large_intestine(6)|lung(4)|skin(3)	13						ATCCAAATTAGCAGCTTGCAG	0.378																																					p.A271T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G811A	17						.						118.0	115.0	116.0					17																	8363345		2203	4300	6503	8304070	SO:0001583	missense	81565	exon8			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.811G>A	17.37:g.8363345G>A	ENSP00000333982:p.Ala271Thr		8304070	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483614	0.84854	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.0	4.04	0.47022	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.80982	2.52	0.80722	D	1	P;D	0.54397	0.886;0.966	P;D	0.64237	0.788;0.923	T	0.78046	-0.2357	9	0.38643	T	0.18	-4.2125	13.8772	0.63660	0.0739:0.0:0.9261:0.0	.	271;271	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	T	271;271;326;271	.	ENSP00000299734:A271T	A	+	1	0	NDEL1	8304070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.344000	0.90055	1.480000	0.48289	0.491000	0.48974	GCA		0.378	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
MYH10	4628	broad.mit.edu	37	17	8390796	8390796	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8390796C>T	ENST00000269243.4	-	34	5046	c.4908G>A	c.(4906-4908)gcG>gcA	p.A1636A	MYH10_ENST00000360416.3_Silent_p.A1667A|MYH10_ENST00000396239.1_Silent_p.A1657A|MYH10_ENST00000379980.4_Silent_p.A1652A	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1636					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A1636A(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAGCTTTGTTCGCAGCCTCGA	0.542																																					p.A1636A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4908A	17						.						247.0	220.0	230.0					17																	8390796		2203	4300	6503	8331521	SO:0001819	synonymous_variant	4628	exon34			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4908G>A	17.37:g.8390796C>T			8331521	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																				0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
MYH10	4628	broad.mit.edu	37	17	8409737	8409737	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8409737C>T	ENST00000269243.4	-	25	3330	c.3192G>A	c.(3190-3192)acG>acA	p.T1064T	MYH10_ENST00000379980.4_Silent_p.T1080T|MYH10_ENST00000360416.3_Silent_p.T1095T|MYH10_ENST00000396239.1_Silent_p.T1085T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1064					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T1064T(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCAGGTCGGTCGTCTCCCCGT	0.527																																					p.T1064T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3192A	17						.						136.0	116.0	123.0					17																	8409737		2203	4300	6503	8350462	SO:0001819	synonymous_variant	4628	exon25			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3192G>A	17.37:g.8409737C>T			8350462	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																				0.527	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
MYH10	4628	broad.mit.edu	37	17	8411935	8411935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8411935C>A	ENST00000269243.4	-	24	3196	c.3058G>T	c.(3058-3060)Gaa>Taa	p.E1020*	MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1036*|MYH10_ENST00000360416.3_Nonsense_Mutation_p.E1051*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1041*|RNU7-43P_ENST00000516554.1_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1020					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1020*(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCGCCTTTTCTTCCTCTTCA	0.428																																					p.E1020X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3058T	17						.						213.0	190.0	198.0					17																	8411935		2203	4300	6503	8352660	SO:0001587	stop_gained	4628	exon24			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3058G>T	17.37:g.8411935C>A	ENSP00000269243:p.Glu1020*		8352660	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Nonsense_Mutation	SNP	ENST00000269243.4	37	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	42	9.813042	0.99270	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5061	0.90898	0.0:1.0:0.0:0.0	.	.	.	.	X	1020;1051;1041;1036	.	ENSP00000269243:E1020X	E	-	1	0	MYH10	8352660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.645000	0.83430	2.587000	0.87381	0.563000	0.77884	GAA		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
MYH10	4628	broad.mit.edu	37	17	8455404	8455404	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8455404G>T	ENST00000269243.4	-	8	987	c.849C>A	c.(847-849)atC>atA	p.I283I	MYH10_ENST00000379980.4_Silent_p.I299I|MYH10_ENST00000360416.3_Silent_p.I293I|MYH10_ENST00000396239.1_Silent_p.I283I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	283	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I283I(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ACTGGTAAAAGATATGAAAAG	0.303																																					p.I283I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849A	17						.						48.0	49.0	49.0					17																	8455404		2203	4300	6503	8396129	SO:0001819	synonymous_variant	4628	exon8			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.849C>A	17.37:g.8455404G>T			8396129	NM_005964	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	CCDS11144.1																																																																																				0.303	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		
CCDC42	146849	broad.mit.edu	37	17	8638451	8638451	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8638451T>A	ENST00000293845.3	-	6	1062	c.836A>T	c.(835-837)gAg>gTg	p.E279V	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279								p.E279V(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAGTGCCACCTCAGTCACCTC	0.617																																					p.E205V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614T	17						.						108.0	90.0	96.0					17																	8638451		2203	4300	6503	8579176	SO:0001583	missense	146849	exon5			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.836A>T	17.37:g.8638451T>A	ENSP00000293845:p.Glu279Val		8579176	NM_001158261	Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	T	1.140	-0.649952	0.03506	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24908	1.83;1.85	5.11	-10.2	0.00374	.	3.909620	0.00575	N	0.000317	T	0.09379	0.0231	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.18713	-1.0328	10	0.30854	T	0.27	2.4966	1.4548	0.02383	0.176:0.3008:0.2736:0.2496	.	279	Q96M95	CCD42_HUMAN	V	279;205	ENSP00000293845:E279V;ENSP00000444359:E205V	ENSP00000293845:E279V	E	-	2	0	CCDC42	8579176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-2.660000	0.00419	-1.276000	0.01395	GAG		0.617	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681	
CCDC42	146849	broad.mit.edu	37	17	8647476	8647476	+	Missense_Mutation	SNP	G	G	A	rs536001412		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8647476G>A	ENST00000293845.3	-	2	336	c.110C>T	c.(109-111)tCg>tTg	p.S37L	CCDC42_ENST00000539522.2_Missense_Mutation_p.S37L	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	37								p.S37L(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGGGGACTCCGACGCCCCCTC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0				p.S37L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C110T	17						.						120.0	102.0	109.0					17																	8647476		2203	4300	6503	8588201	SO:0001583	missense	146849	exon2			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.110C>T	17.37:g.8647476G>A	ENSP00000293845:p.Ser37Leu		8588201	NM_001158261	Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.445989	0.01089	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.26067	1.76;1.82	4.35	1.26	0.21427	.	0.255507	0.28067	N	0.016728	T	0.10508	0.0257	N	0.12182	0.205	0.09310	N	0.999994	B	0.13594	0.008	B	0.06405	0.002	T	0.35126	-0.9801	10	0.10111	T	0.7	-0.619	6.8614	0.24069	0.3788:0.0:0.6212:0.0	.	37	Q96M95	CCD42_HUMAN	L	37	ENSP00000293845:S37L;ENSP00000444359:S37L	ENSP00000293845:S37L	S	-	2	0	CCDC42	8588201	0.033000	0.19621	0.080000	0.20451	0.003000	0.03518	0.755000	0.26405	0.220000	0.20860	-0.149000	0.13747	TCG		0.542	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681	
MFSD6L	162387	broad.mit.edu	37	17	8701224	8701224	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8701224G>A	ENST00000329805.4	-	1	1443	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	405						integral component of membrane (GO:0016021)		p.F405F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGGCGACCGAGAAACCCATGA	0.562																																					p.F405F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1215T	17						.						83.0	97.0	92.0					17																	8701224		2203	4300	6503	8641949	SO:0001819	synonymous_variant	162387	exon1			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1215C>T	17.37:g.8701224G>A			8641949	NM_152599	Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	CCDS11146.1																																																																																				0.562	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599	
PIK3R6	146850	broad.mit.edu	37	17	8725231	8725231	+	Missense_Mutation	SNP	C	C	T	rs199606703		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8725231C>T	ENST00000311434.9	-	17	2050	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	604					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GGTGACCTCTCGGGGCCGGTG	0.592																																					p.R604Q												.	.	0			c.G1811A	17						.	T	GLN/ARG	0,3956		0,0,1978	28.0	30.0	30.0		1811	-8.0	0.0	17		30	1,8337		0,1,4168	yes	missense	PIK3R6	NM_001010855.2	43	0,1,6146	TT,TC,CC		0.012,0.0,0.0081	benign	604/755	8725231	1,12293	1978	4169	6147	8665956	SO:0001583	missense	146850	exon17			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1811G>A	17.37:g.8725231C>T	ENSP00000475670:p.Arg604Gln		8665956	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.592	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
PIK3R6	146850	broad.mit.edu	37	17	8739899	8739899	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8739899C>A	ENST00000311434.9	-	7	665	c.426G>T	c.(424-426)caG>caT	p.Q142H	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	142					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										TCGTCAAGTTCTGTTCGGCAA	0.507																																					p.Q142H												.	.	0			c.G426T	17						.						132.0	130.0	131.0					17																	8739899		2056	4194	6250	8680624	SO:0001583	missense	146850	exon7			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.426G>T	17.37:g.8739899C>A	ENSP00000475670:p.Gln142His		8680624	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.507	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
PIK3R6	146850	broad.mit.edu	37	17	8740140	8740140	+	Missense_Mutation	SNP	G	G	A	rs577072208		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:8740140G>A	ENST00000311434.9	-	6	598	c.359C>T	c.(358-360)gCg>gTg	p.A120V	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	120					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CAGCCTTATCGCGCAGTCCAA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17729	0.0		0.0	False		,,,				2504	0.001				p.A120V												.	.	0			c.C359T	17						.						81.0	85.0	84.0					17																	8740140		2040	4199	6239	8680865	SO:0001583	missense	146850	exon6			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.359C>T	17.37:g.8740140G>A	ENSP00000475670:p.Ala120Val		8680865	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.537	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
STX8	9482	broad.mit.edu	37	17	9281939	9281939	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:9281939C>A	ENST00000306357.4	-	7	1000	c.573G>T	c.(571-573)gaG>gaT	p.E191D	STX8_ENST00000574431.1_Missense_Mutation_p.E80D	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	191	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.E191D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CATCTGTGTTCTCCACTAGGT	0.433																																					p.E191D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G573T	17						.						248.0	235.0	240.0					17																	9281939		2203	4300	6503	9222664	SO:0001583	missense	9482	exon7			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.573G>T	17.37:g.9281939C>A	ENSP00000305255:p.Glu191Asp		9222664	NM_004853	O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	9.385	1.073967	0.20147	.	.	ENSG00000170310	ENST00000306357	.	.	.	6.01	3.98	0.46160	Target SNARE coiled-coil domain (3);	0.100614	0.64402	N	0.000002	T	0.15869	0.0382	N	0.02158	-0.66	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.17561	-1.0365	9	0.02654	T	1	-21.1028	5.8456	0.18663	0.1557:0.6868:0.0:0.1575	.	191	Q9UNK0	STX8_HUMAN	D	191	.	ENSP00000305255:E191D	E	-	3	2	STX8	9222664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.757000	0.26433	0.832000	0.34804	0.650000	0.86243	GAG		0.433	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853	
USP43	124739	broad.mit.edu	37	17	9631794	9631794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:9631794G>T	ENST00000285199.7	+	15	2955	c.2859G>T	c.(2857-2859)atG>atT	p.M953I	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.M948I	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	953					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.M954I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGAAGGCCATGAACTGGAAGG	0.557																																					p.M953I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2859T	17						.						33.0	35.0	35.0					17																	9631794		1966	4145	6111	9572519	SO:0001583	missense	124739	exon15			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2859G>T	17.37:g.9631794G>T	ENSP00000285199:p.Met953Ile		9572519	NM_153210	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331813	0.41297	.	.	ENSG00000154914	ENST00000285199	T	0.08546	3.08	5.5	-10.3	0.00346	.	5.100030	0.00983	N	0.003404	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B;B;B	0.16802	0.011;0.019;0.011;0.019	B;B;B;B	0.18871	0.006;0.023;0.006;0.023	T	0.29792	-1.0000	10	0.39692	T	0.17	3.1239	9.3618	0.38201	0.5165:0.3619:0.1216:0.0	.	948;642;953;465	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	I	953	ENSP00000285199:M953I	ENSP00000285199:M953I	M	+	3	0	USP43	9572519	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	-2.881000	0.00715	-1.851000	0.01168	0.655000	0.94253	ATG		0.557	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210	
GLP2R	9340	broad.mit.edu	37	17	9745901	9745901	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:9745901G>A	ENST00000262441.5	+	4	985	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	158					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.E158K(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	GGATGACTCCGAATGCTCCGA	0.547																																					p.E158K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	17						.						130.0	104.0	113.0					17																	9745901		2203	4300	6503	9686626	SO:0001583	missense	9340	exon4			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.472G>A	17.37:g.9745901G>A	ENSP00000262441:p.Glu158Lys		9686626	NM_004246	Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	35	5.538263	0.96460	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37915	1.17	5.06	5.06	0.68205	GPCR, family 2, extracellular hormone receptor domain (1);	0.000000	0.39341	N	0.001387	T	0.54711	0.1875	M	0.74258	2.255	0.53688	D	0.999978	P	0.50156	0.932	P	0.54026	0.74	T	0.59621	-0.7420	10	0.72032	D	0.01	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	158	O95838	GLP2R_HUMAN	K	158;133;158	ENSP00000262441:E158K	ENSP00000262441:E158K	E	+	1	0	GLP2R	9686626	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.102000	0.71486	2.643000	0.89663	0.655000	0.94253	GAA		0.547	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
GLP2R	9340	broad.mit.edu	37	17	9792803	9792803	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:9792803C>T	ENST00000262441.5	+	13	1956	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	GLP2R_ENST00000574745.1_Silent_p.L301L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	481					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.L481L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CCAAGAAGCTCTCGGAAGGAG	0.592																																					p.L481L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	17						.						58.0	58.0	58.0					17																	9792803		2203	4300	6503	9733528	SO:0001819	synonymous_variant	9340	exon13			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1443C>T	17.37:g.9792803C>T			9733528	NM_004246	Q4VAT3	Silent	SNP	ENST00000262441.5	37	CCDS11150.1																																																																																				0.592	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4		
ZNF750	79755	broad.mit.edu	37	17	80789311	80789311	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:80789311G>A	ENST00000269394.3	-	2	1853	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	340					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G340G(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTCGGGTGAGGCCAGTGACAG	0.522																																					p.G340G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1020T	17						.						127.0	137.0	134.0					17																	80789311		2203	4300	6503	78382600	SO:0001819	synonymous_variant	79755	exon2			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1020C>T	17.37:g.80789311G>A			78382600	NM_024702	Q9H899	Silent	SNP	ENST00000269394.3	37	CCDS11819.1																																																																																				0.522	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	
POTED	317754	broad.mit.edu	37	21	14982911	14982911	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:14982911G>A	ENST00000299443.5	+	1	414	c.362G>A	c.(361-363)gGa>gAa	p.G121E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	121						plasma membrane (GO:0005886)		p.G121E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GGCGCTTGGGGAGACTACGAC	0.587																																					p.G121E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	21						.						30.0	47.0	43.0					21																	14982911		829	3142	3971	13904782	SO:0001583	missense	317754	exon1			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.362G>A	21.37:g.14982911G>A	ENSP00000299443:p.Gly121Glu		13904782	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	0.621	-0.821034	0.02755	.	.	ENSG00000166351	ENST00000299443	T	0.27890	1.64	0.637	-1.27	0.09347	.	.	.	.	.	T	0.25344	0.0616	N	0.11427	0.14	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.12400	-1.0549	8	0.35671	T	0.21	.	.	.	.	.	121	Q86YR6	POTED_HUMAN	E	121	ENSP00000299443:G121E	ENSP00000299443:G121E	G	+	2	0	POTED	13904782	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.848000	0.01673	-1.131000	0.02910	-1.109000	0.02080	GGA		0.587	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
POTED	317754	broad.mit.edu	37	21	14987509	14987509	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:14987509G>A	ENST00000299443.5	+	2	639	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	196						plasma membrane (GO:0005886)		p.R196Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CTGGACAGACGATGTCAACTT	0.403																																					p.R196Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587A	21						.						0.0	1.0	1.0					21																	14987509		0	1	1	13909380	SO:0001583	missense	317754	exon2			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.587G>A	21.37:g.14987509G>A	ENSP00000299443:p.Arg196Gln		13909380	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	5.966	0.362244	0.11296	.	.	ENSG00000166351	ENST00000299443	T	0.52057	0.68	1.4	0.186	0.15105	Ankyrin repeat-containing domain (4);	0.674489	0.12697	N	0.446625	T	0.30262	0.0759	N	0.17248	0.465	0.09310	N	1	P	0.48640	0.913	P	0.47645	0.553	T	0.11203	-1.0597	10	0.27082	T	0.32	.	3.1236	0.06400	0.7252:0.0:0.2748:0.0	.	196	Q86YR6	POTED_HUMAN	Q	196	ENSP00000299443:R196Q	ENSP00000299443:R196Q	R	+	2	0	POTED	13909380	0.950000	0.32346	0.001000	0.08648	0.016000	0.09150	1.452000	0.35156	0.046000	0.15833	0.184000	0.17185	CGA		0.403	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
POTED	317754	broad.mit.edu	37	21	14990767	14990767	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:14990767G>T	ENST00000299443.5	+	4	960	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	303						plasma membrane (GO:0005886)		p.R303I(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GTACTTGATAGATATGGAAGG	0.299																																					p.R303I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908T	21						.						1.0	1.0	1.0					21																	14990767		14	69	83	13912638	SO:0001583	missense	317754	exon4			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.908G>T	21.37:g.14990767G>T	ENSP00000299443:p.Arg303Ile		13912638	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	4.957	0.177696	0.09443	.	.	ENSG00000166351	ENST00000299443	T	0.52754	0.65	1.4	-1.87	0.07737	Ankyrin repeat-containing domain (4);	0.718507	0.10344	U	0.685945	T	0.20170	0.0485	N	0.17379	0.485	0.09310	N	1	P	0.41008	0.735	B	0.29440	0.102	T	0.11446	-1.0587	10	0.48119	T	0.1	.	2.2179	0.03965	0.4493:0.3188:0.2319:0.0	.	303	Q86YR6	POTED_HUMAN	I	303	ENSP00000299443:R303I	ENSP00000299443:R303I	R	+	2	0	POTED	13912638	0.006000	0.16342	0.001000	0.08648	0.114000	0.19823	0.391000	0.20784	-0.428000	0.07339	0.184000	0.17185	AGA		0.299	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
POTED	317754	broad.mit.edu	37	21	15013696	15013696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:15013696C>T	ENST00000299443.5	+	11	1616	c.1564C>T	c.(1564-1566)Ctc>Ttc	p.L522F		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	522						plasma membrane (GO:0005886)		p.L522I(1)|p.L522F(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAAGAAGATCTCTTGCGTGA	0.333																																					p.L522F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1564T	21						.						18.0	24.0	23.0					21																	15013696		829	3062	3891	13935567	SO:0001583	missense	317754	exon11			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1564C>T	21.37:g.15013696C>T	ENSP00000299443:p.Leu522Phe		13935567	NM_174981	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.355033	0.24512	.	.	ENSG00000166351	ENST00000299443	T	0.48201	0.82	2.1	1.19	0.21007	.	.	.	.	.	T	0.43255	0.1239	M	0.72118	2.19	0.09310	N	1	B	0.27286	0.174	B	0.22601	0.04	T	0.39502	-0.9611	9	0.56958	D	0.05	.	6.7502	0.23483	0.0:0.8402:0.0:0.1598	.	522	Q86YR6	POTED_HUMAN	F	522	ENSP00000299443:L522F	ENSP00000299443:L522F	L	+	1	0	POTED	13935567	0.955000	0.32602	0.002000	0.10522	0.000000	0.00434	0.801000	0.27055	0.235000	0.21160	-0.460000	0.05396	CTC		0.333	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
LIPI	149998	broad.mit.edu	37	21	15524982	15524982	+	Missense_Mutation	SNP	T	T	G	rs202154453		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:15524982T>G	ENST00000536861.1	-	8	1029	c.1030A>C	c.(1030-1032)Att>Ctt	p.I344L	LIPI_ENST00000344577.2_Missense_Mutation_p.I365L			Q6XZB0	LIPI_HUMAN	lipase, member I	344					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.I365L(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTGGAACAATTATACTGAGA	0.254																																					p.I365L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1093C	21						.						28.0	29.0	29.0					21																	15524982		2198	4260	6458	14446853	SO:0001583	missense	149998	exon8			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1030A>C	21.37:g.15524982T>G	ENSP00000440381:p.Ile344Leu		14446853	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	T	4.002	-0.002315	0.07819	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87571	-2.27;-2.26	5.34	0.358	0.16084	.	0.597916	0.18513	N	0.139017	T	0.75845	0.3905	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.55354	-0.8154	10	0.09084	T	0.74	.	4.7831	0.13211	0.0:0.2703:0.1794:0.5502	.	365	Q6XZB0-2	.	L	365;344	ENSP00000343331:I365L;ENSP00000440381:I344L	ENSP00000343331:I365L	I	-	1	0	LIPI	14446853	0.004000	0.15560	0.003000	0.11579	0.039000	0.13416	0.168000	0.16622	-0.026000	0.13895	0.528000	0.53228	ATT		0.254	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	G	A	rs548960957		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:15561499G>A	ENST00000536861.1	-	2	287	c.288C>T	c.(286-288)ttC>ttT	p.F96F	LIPI_ENST00000344577.2_Silent_p.F117F			Q6XZB0	LIPI_HUMAN	lipase, member I	96					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.F117F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAATCCTTACGAAGTTCTGAA	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		16208	0.001		0.0	False		,,,				2504	0.0				p.F117F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C351T	21						.						98.0	92.0	94.0					21																	15561499		2203	4300	6503	14483370	SO:0001819	synonymous_variant	149998	exon2			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.288C>T	21.37:g.15561499G>A			14483370	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37																																																																																					0.368	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
SAMSN1	64092	broad.mit.edu	37	21	15872865	15872865	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:15872865C>A	ENST00000400566.1	-	6	834	c.753G>T	c.(751-753)gaG>gaT	p.E251D	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.E83D|SAMSN1_ENST00000285670.2_Missense_Mutation_p.E319D	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	251	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.E251D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GATGAATCCTCTCTAGGAACT	0.443																																					p.E251D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G753T	21						.						94.0	88.0	90.0					21																	15872865		1845	4098	5943	14794736	SO:0001583	missense	64092	exon6			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.753G>T	21.37:g.15872865C>A	ENSP00000383411:p.Glu251Asp		14794736	NM_022136	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085351	0.55861	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.85171	-1.95;-1.95;-1.95	5.63	4.71	0.59529	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.094388	0.64402	D	0.000001	D	0.90542	0.7036	M	0.75884	2.315	0.40983	D	0.984798	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.996	D	0.89573	0.3815	10	0.36615	T	0.2	-23.7698	10.2128	0.43152	0.0:0.8193:0.0:0.1807	.	83;319;251	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	D	319;251;83	ENSP00000285670:E319D;ENSP00000383411:E251D;ENSP00000383409:E83D	ENSP00000285670:E319D	E	-	3	2	SAMSN1	14794736	0.497000	0.26067	0.999000	0.59377	0.905000	0.53344	0.333000	0.19768	1.302000	0.44855	0.650000	0.86243	GAG		0.443	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
NRIP1	8204	broad.mit.edu	37	21	16339697	16339697	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:16339697C>T	ENST00000400202.1	-	3	1529	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	NRIP1_ENST00000400199.1_Missense_Mutation_p.E273K|NRIP1_ENST00000318948.4_Missense_Mutation_p.E273K			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	273	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E273K(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAATGGGCTTCGCTTGACAGA	0.453																																					p.E273K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	21						.						152.0	139.0	143.0					21																	16339697		2203	4300	6503	15261568	SO:0001583	missense	8204	exon4			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.817G>A	21.37:g.16339697C>T	ENSP00000383063:p.Glu273Lys		15261568	NM_003489	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848687	0.91277	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.23950	1.88;1.88;1.88	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48317	-0.9046	10	0.87932	D	0	-17.3029	20.4753	0.99175	0.0:1.0:0.0:0.0	.	273	P48552	NRIP1_HUMAN	K	273	ENSP00000383060:E273K;ENSP00000383063:E273K;ENSP00000327213:E273K	ENSP00000327213:E273K	E	-	1	0	NRIP1	15261568	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	GAA		0.453	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
USP25	29761	broad.mit.edu	37	21	17163895	17163895	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:17163895G>A	ENST00000285679.6	+	5	836	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	USP25_ENST00000351097.5_Missense_Mutation_p.R156Q|USP25_ENST00000400183.2_Missense_Mutation_p.R156Q|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285681.2_Missense_Mutation_p.R156Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	156					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R156Q(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGGATTCTCGAAACCCTTAT	0.393																																					p.R156Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467A	21						.						152.0	154.0	153.0					21																	17163895		2203	4300	6503	16085766	SO:0001583	missense	29761	exon5			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.467G>A	21.37:g.17163895G>A	ENSP00000285679:p.Arg156Gln		16085766	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167131	0.57476	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.30448	1.97;1.97;1.53;1.97	5.25	4.35	0.52113	.	0.112431	0.64402	D	0.000009	T	0.17577	0.0422	N	0.12182	0.205	0.32263	N	0.569897	P;B;P;B	0.37997	0.614;0.395;0.471;0.004	B;B;B;B	0.36922	0.236;0.019;0.158;0.0	T	0.13098	-1.0522	10	0.29301	T	0.29	.	12.3586	0.55190	0.0:0.4309:0.5691:0.0	.	156;156;156;156	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	156	ENSP00000285681:R156Q;ENSP00000285679:R156Q;ENSP00000299574:R156Q;ENSP00000383044:R156Q	ENSP00000285679:R156Q	R	+	2	0	USP25	16085766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.269000	0.65542	2.467000	0.83353	0.585000	0.79938	CGA		0.393	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
USP25	29761	broad.mit.edu	37	21	17205776	17205776	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:17205776A>G	ENST00000285679.6	+	17	2472	c.2103A>G	c.(2101-2103)gaA>gaG	p.E701E	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Silent_p.E701E|USP25_ENST00000285681.2_Silent_p.E701E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	701					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.E701E(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AAGAACTAGAAGAATGGGATG	0.418																																					p.E701E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2103G	21						.						67.0	70.0	69.0					21																	17205776		2203	4300	6503	16127647	SO:0001819	synonymous_variant	29761	exon17			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2103A>G	21.37:g.17205776A>G			16127647	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.418	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
USP25	29761	broad.mit.edu	37	21	17214800	17214800	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:17214800A>G	ENST00000285679.6	+	18	2647	c.2278A>G	c.(2278-2280)Ata>Gta	p.I760V	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.I760V|USP25_ENST00000285681.2_Missense_Mutation_p.I760V	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	760					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.I760V(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AACTATTCAAATAATTACCAA	0.393																																					p.I760V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2278G	21						.						114.0	117.0	116.0					21																	17214800		2203	4300	6503	16136671	SO:0001583	missense	29761	exon18			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2278A>G	21.37:g.17214800A>G	ENSP00000285679:p.Ile760Val		16136671	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	7.765	0.706272	0.15239	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.21543	2.0;2.02;2.0	5.32	-6.2	0.02072	.	0.557741	0.20055	N	0.100219	T	0.04634	0.0126	N	0.00926	-1.1	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.36553	-0.9743	10	0.08179	T	0.78	.	12.1029	0.53794	0.1268:0.0:0.7656:0.1076	.	760;760;760	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	V	760	ENSP00000285681:I760V;ENSP00000285679:I760V;ENSP00000383044:I760V	ENSP00000285679:I760V	I	+	1	0	USP25	16136671	1.000000	0.71417	0.901000	0.35422	0.987000	0.75469	1.035000	0.30216	-1.056000	0.03205	-0.177000	0.13119	ATA		0.393	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
USP25	29761	broad.mit.edu	37	21	17250704	17250704	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:17250704G>A	ENST00000285679.6	+	24	3447	c.3078G>A	c.(3076-3078)ccG>ccA	p.P1026P	USP25_ENST00000351097.5_Silent_p.P421P|USP25_ENST00000400183.2_Silent_p.P1096P|USP25_ENST00000285681.2_Silent_p.P1058P	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1026					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.P1026P(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGAGCCACCGAAGTTACCTT	0.423																																					p.P1026P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3078A	21						.						106.0	95.0	99.0					21																	17250704		2203	4300	6503	16172575	SO:0001819	synonymous_variant	29761	exon24			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3078G>A	21.37:g.17250704G>A			16172575	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				0.423	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
USP25	29761	broad.mit.edu	37	21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A	rs549945211	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:17250772G>A	ENST00000285679.6	+	24	3515	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q|USP25_ENST00000285681.2_Missense_Mutation_p.R1081Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1049					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCTCAGTCGAACTCCTGCT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		17817	0.0		0.0	False		,,,				2504	0.002				p.R1049Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3146A	21						.						110.0	100.0	103.0					21																	17250772		2203	4300	6503	16172643	SO:0001583	missense	29761	exon24			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3146G>A	21.37:g.17250772G>A	ENSP00000285679:p.Arg1049Gln		16172643	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560817	0.65538	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.33216	1.82;1.83;1.42;1.82	5.92	5.92	0.95590	.	0.233302	0.42821	D	0.000646	T	0.43722	0.1260	L	0.41236	1.265	0.38800	D	0.955174	D;D;D;P	0.71674	0.998;0.996;0.979;0.955	P;P;P;B	0.56563	0.759;0.801;0.638;0.357	T	0.10245	-1.0638	10	0.36615	T	0.2	-10.4026	20.3172	0.98658	0.0:0.0:1.0:0.0	.	1119;444;1081;1049	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	1081;1049;444;1119	ENSP00000285681:R1081Q;ENSP00000285679:R1049Q;ENSP00000299574:R444Q;ENSP00000383044:R1119Q	ENSP00000285679:R1049Q	R	+	2	0	USP25	16172643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.325000	0.65869	2.801000	0.96364	0.650000	0.86243	CGA		0.438	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
CXADR	1525	broad.mit.edu	37	21	18924145	18924145	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:18924145G>T	ENST00000284878.7	+	3	1037	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Missense_Mutation_p.D97Y|CXADR_ENST00000400166.1_Missense_Mutation_p.D97Y|CXADR_ENST00000400165.1_Missense_Mutation_p.D97Y|CXADR_ENST00000400169.1_Missense_Mutation_p.D97Y	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	97	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.D97Y(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TACGAGTAATGATCTCAAATC	0.333																																					p.D97Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289T	21						.						66.0	64.0	64.0					21																	18924145		2203	4300	6503	17846016	SO:0001583	missense	1525	exon3			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.289G>T	21.37:g.18924145G>T	ENSP00000284878:p.Asp97Tyr		17846016	NM_001338	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Missense_Mutation	SNP	ENST00000284878.7	37	CCDS33519.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866099	0.71949	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000400169;ENST00000400165;ENST00000306618	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.04	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.043023	0.85682	D	0.000000	T	0.73040	0.3536	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.991;0.997;0.996;0.996	T	0.73395	-0.3996	10	0.02654	T	1	.	12.9804	0.58559	0.0788:0.0:0.9212:0.0	.	97;97;97;97	P78310-4;B7WPI3;P78310;P78310-5	.;.;CXAR_HUMAN;.	Y	97	ENSP00000284878:D97Y;ENSP00000383030:D97Y;ENSP00000383033:D97Y;ENSP00000383029:D97Y;ENSP00000303395:D97Y	ENSP00000284878:D97Y	D	+	1	0	CXADR	17846016	1.000000	0.71417	0.716000	0.30569	0.984000	0.73092	6.152000	0.71812	1.428000	0.47296	0.655000	0.94253	GAT		0.333	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		
TMPRSS15	5651	broad.mit.edu	37	21	19698871	19698871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19698871C>A	ENST00000284885.3	-	16	1832	c.1799G>T	c.(1798-1800)gGc>gTc	p.G600V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	600	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G600V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTTTACTGGGCCAGGCCCTGT	0.448																																					p.G600V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1799T	21						.						162.0	135.0	144.0					21																	19698871		2203	4300	6503	18620742	SO:0001583	missense	5651	exon16				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1799G>T	21.37:g.19698871C>A	ENSP00000284885:p.Gly600Val		18620742	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734889	0.48939	.	.	ENSG00000154646	ENST00000284885	T	0.18657	2.2	5.27	4.39	0.52855	CUB (5);	0.063724	0.64402	D	0.000011	T	0.32763	0.0840	L	0.42529	1.33	0.28940	N	0.891055	D	0.76494	0.999	D	0.75020	0.985	T	0.08452	-1.0721	9	.	.	.	.	7.7185	0.28719	0.0:0.7471:0.1646:0.0882	.	600	P98073	ENTK_HUMAN	V	600	ENSP00000284885:G600V	.	G	-	2	0	TMPRSS15	18620742	0.003000	0.15002	0.141000	0.22245	0.858000	0.48976	0.713000	0.25794	1.351000	0.45789	0.650000	0.86243	GGC		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19701534	19701534	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19701534C>T	ENST00000284885.3	-	15	1765	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	578	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D578N(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAACTACATCGTTAATATTT	0.308																																					p.D578N												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G1732A	21						.						91.0	88.0	89.0					21																	19701534		2203	4298	6501	18623405	SO:0001583	missense	5651	exon15				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1732G>A	21.37:g.19701534C>T	ENSP00000284885:p.Asp578Asn		18623405	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758031	0.69648	.	.	ENSG00000154646	ENST00000284885	T	0.33865	1.39	5.53	5.53	0.82687	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	H	0.94345	3.525	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.79598	-0.1737	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	578	P98073	ENTK_HUMAN	N	578	ENSP00000284885:D578N	.	D	-	1	0	TMPRSS15	18623405	1.000000	0.71417	0.983000	0.44433	0.332000	0.28634	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAT		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19713769	19713769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19713769C>A	ENST00000284885.3	-	13	1558	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	509						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAAGTTGGTTCTGGATAAAGA	0.398																																					p.E509X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1525T	21						.						161.0	153.0	156.0					21																	19713769		2203	4300	6503	18635640	SO:0001587	stop_gained	5651	exon13				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1525G>T	21.37:g.19713769C>A	ENSP00000284885:p.Glu509*		18635640	NM_002772	Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	39	7.647139	0.98409	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.64	5.64	0.86602	.	0.185138	0.44902	D	0.000417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6798	0.91543	0.0:1.0:0.0:0.0	.	.	.	.	X	509	.	.	E	-	1	0	TMPRSS15	18635640	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.974000	0.56852	2.659000	0.90383	0.484000	0.47621	GAA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19716325	19716325	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19716325C>T	ENST00000284885.3	-	11	1257	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	408	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.G408G(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTTAAAAGCCCCACTCGTT	0.393																																					p.G408G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1224A	21						.						114.0	119.0	117.0					21																	19716325		2203	4300	6503	18638196	SO:0001819	synonymous_variant	5651	exon11				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1224G>A	21.37:g.19716325C>T			18638196	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19770231	19770231	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19770231C>A	ENST00000284885.3	-	3	342	c.309G>T	c.(307-309)aaG>aaT	p.K103N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	103	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.K103N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TATATTCATTCTTCAGATTGC	0.234																																					p.K103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G309T	21						.						16.0	17.0	17.0					21																	19770231		2133	4216	6349	18692102	SO:0001583	missense	5651	exon3				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.309G>T	21.37:g.19770231C>A	ENSP00000284885:p.Lys103Asn		18692102	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239047	0.58995	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.33865	1.39;1.39	4.78	3.83	0.44106	SEA (3);	0.352689	0.29529	N	0.011900	T	0.45677	0.1354	M	0.62723	1.935	0.30545	N	0.76601	P	0.51653	0.947	P	0.58391	0.838	T	0.49513	-0.8932	9	.	.	.	.	4.4344	0.11544	0.0:0.7772:0.0:0.2228	.	103	P98073	ENTK_HUMAN	N	103;58	ENSP00000284885:K103N;ENSP00000398253:K58N	.	K	-	3	2	TMPRSS15	18692102	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.198000	0.17217	1.208000	0.43306	0.643000	0.83706	AAG		0.234	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TMPRSS15	5651	broad.mit.edu	37	21	19775917	19775917	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:19775917G>T	ENST00000284885.3	-	1	56	c.23C>A	c.(22-24)tCt>tAt	p.S8Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	8						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.S8Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGCCTAGAAGATATGCCTCT	0.383																																					p.S8Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23A	21						.						141.0	134.0	136.0					21																	19775917		2203	4300	6503	18697788	SO:0001583	missense	5651	exon1				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.23C>A	21.37:g.19775917G>T	ENSP00000284885:p.Ser8Tyr		18697788	NM_002772	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.958005	0.34565	.	.	ENSG00000154646	ENST00000284885	D	0.86694	-2.16	5.16	4.28	0.50868	.	0.738938	0.12956	N	0.425456	T	0.80221	0.4583	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.41571	0.36	T	0.68891	-0.5289	9	.	.	.	.	9.55	0.39304	0.0943:0.0:0.9057:0.0	.	8	P98073	ENTK_HUMAN	Y	8	ENSP00000284885:S8Y	.	S	-	2	0	TMPRSS15	18697788	0.001000	0.12720	0.008000	0.14137	0.063000	0.16089	0.552000	0.23376	1.428000	0.47296	0.563000	0.77884	TCT		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	broad.mit.edu	37	21	22656657	22656657	+	Missense_Mutation	SNP	C	C	T	rs566399279		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:22656657C>T	ENST00000400546.1	+	3	523	c.274C>T	c.(274-276)Cgt>Tgt	p.R92C	NCAM2_ENST00000535285.1_Missense_Mutation_p.R117C|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.R92C(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)		AGGGATATATCGTTGTCAAGC	0.348																																					p.R92C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C274T	21						.						92.0	86.0	88.0					21																	22656657		1872	4105	5977	21578528	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.274C>T	21.37:g.22656657C>T	ENSP00000383392:p.Arg92Cys		21578528	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313730	0.81358	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.28454	1.61;1.61	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	0.56307	0.1976	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57785	-0.7751	10	0.87932	D	0	-12.539	18.134	0.89612	0.0:1.0:0.0:0.0	.	117;92	B7Z841;O15394	.;NCAM2_HUMAN	C	92;117	ENSP00000383392:R92C;ENSP00000441887:R117C	ENSP00000383392:R92C	R	+	1	0	NCAM2	21578528	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.204000	0.32296	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	
NCAM2	4685	broad.mit.edu	37	21	22746300	22746300	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:22746300G>T	ENST00000400546.1	+	9	1411	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	NCAM2_ENST00000535285.1_Missense_Mutation_p.G413W|NCAM2_ENST00000284894.7_Missense_Mutation_p.G246W	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	388	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G388W(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)		CAGAATTGGAGGGCATCAAAA	0.363																																					p.G388W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162T	21						.						177.0	168.0	171.0					21																	22746300		1905	4136	6041	21668171	SO:0001583	missense	4685	exon9				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1162G>T	21.37:g.22746300G>T	ENSP00000383392:p.Gly388Trp		21668171	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656242	0.88056	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.67523	-0.27;-0.27;-0.27	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80600	-0.1310	10	0.72032	D	0.01	-15.0922	18.1211	0.89572	0.0:0.0:1.0:0.0	.	413;246;388	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	W	388;246;413	ENSP00000383392:G388W;ENSP00000284894:G246W;ENSP00000441887:G413W	ENSP00000284894:G246W	G	+	1	0	NCAM2	21668171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.226000	0.95229	2.618000	0.88619	0.644000	0.83932	GGG		0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
NCAM2	4685	broad.mit.edu	37	21	22906955	22906955	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:22906955A>G	ENST00000400546.1	+	17	2629	c.2380A>G	c.(2380-2382)Acc>Gcc	p.T794A	NCAM2_ENST00000284894.7_Missense_Mutation_p.T652A	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	794					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.T794A(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)		GCCAAATGAAACCACACCACT	0.388																																					p.T794A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2380G	21						.						111.0	106.0	108.0					21																	22906955		1926	4131	6057	21828826	SO:0001583	missense	4685	exon17				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.2380A>G	21.37:g.22906955A>G	ENSP00000383392:p.Thr794Ala		21828826	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616795	0.66672	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.54866	0.55;0.55	5.49	5.49	0.81192	.	0.241745	0.41605	D	0.000848	T	0.68742	0.3034	M	0.62723	1.935	0.80722	D	1	P;D	0.58970	0.765;0.984	B;D	0.68192	0.22;0.956	T	0.71354	-0.4618	10	0.62326	D	0.03	-17.4856	14.4086	0.67101	1.0:0.0:0.0:0.0	.	652;794	B7Z5K2;O15394	.;NCAM2_HUMAN	A	794;652	ENSP00000383392:T794A;ENSP00000284894:T652A	ENSP00000284894:T652A	T	+	1	0	NCAM2	21828826	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.605000	0.90883	2.088000	0.63022	0.377000	0.23210	ACC		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
MRPL39	54148	broad.mit.edu	37	21	26969724	26969724	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:26969724C>A	ENST00000352957.4	-	6	632	c.591G>T	c.(589-591)gaG>gaT	p.E197D	MRPL39_ENST00000307301.7_Missense_Mutation_p.E197D	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	197						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E197D(2)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AACGTAAGTTCTCCTTAAAAA	0.328																																					p.E197D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G591T	21						.						38.0	36.0	37.0					21																	26969724		2198	4293	6491	25891595	SO:0001583	missense	54148	exon6			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.591G>T	21.37:g.26969724C>A	ENSP00000284967:p.Glu197Asp		25891595	NM_017446	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202022	0.22121	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.51574	0.72;0.7;0.78	4.49	3.51	0.40186	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.053337	0.64402	D	0.000001	T	0.32793	0.0841	L	0.39397	1.21	0.51482	D	0.999929	B;B	0.20368	0.044;0.044	B;B	0.20577	0.03;0.03	T	0.12889	-1.0530	10	0.22706	T	0.39	-24.3188	5.8757	0.18828	0.0:0.6521:0.1917:0.1562	.	197;197	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	D	197;197;187	ENSP00000284967:E197D;ENSP00000305682:E197D;ENSP00000404426:E187D	ENSP00000305682:E197D	E	-	3	2	MRPL39	25891595	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	0.542000	0.23222	2.331000	0.79229	0.585000	0.79938	GAG		0.328	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446	
APP	351	broad.mit.edu	37	21	27327992	27327992	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:27327992G>A	ENST00000346798.3	-	12	1569	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	APP_ENST00000440126.3_Silent_p.F488F|APP_ENST00000439274.2_Silent_p.F456F|APP_ENST00000359726.3_Silent_p.F456F|APP_ENST00000348990.5_Silent_p.F437F|APP_ENST00000358918.3_Silent_p.F512F|APP_ENST00000354192.3_Silent_p.F381F|APP_ENST00000357903.3_Silent_p.F493F|APP_ENST00000448388.2_Silent_p.F402F	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	512	Heparin-binding.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.F512F(2)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACATGCTCGAAATGCTTTA	0.493																																					p.F437F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1311T	21						.						217.0	169.0	185.0					21																	27327992		2203	4300	6503	26249863	SO:0001819	synonymous_variant	351	exon10			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1536C>T	21.37:g.27327992G>A			26249863	NM_201414	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360705	0.11296	.	.	ENSG00000142192	ENST00000448850	.	.	.	5.45	0.505	0.16953	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.1801	9.3162	0.37934	0.5085:0.0:0.4915:0.0	.	.	.	.	X	415	.	.	R	-	1	2	APP	26249863	0.984000	0.35163	1.000000	0.80357	0.467000	0.32768	0.330000	0.19715	0.182000	0.20032	-0.302000	0.09304	CGA		0.493	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
APP	351	broad.mit.edu	37	21	27425560	27425560	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:27425560C>T	ENST00000346798.3	-	4	493	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	APP_ENST00000440126.3_Missense_Mutation_p.A149T|APP_ENST00000439274.2_Missense_Mutation_p.A98T|APP_ENST00000359726.3_Missense_Mutation_p.A154T|APP_ENST00000474136.1_5'UTR|APP_ENST00000348990.5_Missense_Mutation_p.A154T|APP_ENST00000358918.3_Missense_Mutation_p.A154T|APP_ENST00000354192.3_Missense_Mutation_p.A98T|APP_ENST00000357903.3_Missense_Mutation_p.A154T|APP_ENST00000448388.2_Missense_Mutation_p.A119T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	154					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.A154T(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ACCTCTTTGGCGACGGTGTGC	0.448																																					p.A154T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	21						.						162.0	157.0	159.0					21																	27425560		2203	4300	6503	26347431	SO:0001583	missense	351	exon4			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.460G>A	21.37:g.27425560C>T	ENSP00000284981:p.Ala154Thr		26347431	NM_201414	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.711729|5.711729	0.96830|0.96830	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850	D;D;D;D;D;D;D;D;D|.	0.97888|.	-2.57;-4.49;-4.55;-2.59;-2.37;-4.59;-4.47;-2.57;-2.52|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77818|0.77818	0.4187|0.4187	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.999;0.984;1.0|.	D;D;D;D;D;D;P;D|.	0.85130|.	0.997;0.991;0.991;0.994;0.985;0.91;0.879;0.991|.	T|T	0.75614|0.75614	-0.3257|-0.3257	10|5	0.87932|.	D|.	0|.	-18.9998|-18.9998	19.9618|19.9618	0.97254|0.97254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	154;119;98;149;98;154;154;154|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|H	154;98;154;154;154;154;119;149;98|75	ENSP00000284981:A154T;ENSP00000346129:A98T;ENSP00000345463:A154T;ENSP00000350578:A154T;ENSP00000351796:A154T;ENSP00000352760:A154T;ENSP00000388538:A119T;ENSP00000387483:A149T;ENSP00000398879:A98T|.	ENSP00000284981:A154T|.	A|R	-|-	1|2	0|0	APP|APP	26347431|26347431	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.448	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
CYYR1	116159	broad.mit.edu	37	21	27840832	27840832	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:27840832G>A	ENST00000299340.4	-	4	796	c.453C>T	c.(451-453)aaC>aaT	p.N151N	CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000421771.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	151						integral component of membrane (GO:0016021)		p.N151N(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATTTCCTTGCGTTTCCAGGAT	0.512																																					p.N151N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	21						.						75.0	70.0	72.0					21																	27840832		2203	4300	6503	26762703	SO:0001819	synonymous_variant	116159	exon4			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.453C>T	21.37:g.27840832G>A			26762703	NM_052954	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	CCDS13578.1																																																																																				0.512	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954	
ADAMTS1	9510	broad.mit.edu	37	21	28214671	28214671	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:28214671A>C	ENST00000284984.3	-	2	1518	c.1064T>G	c.(1063-1065)cTt>cGt	p.L355R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L355R(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTGGTGAAAAGAATTGCTGT	0.488																																					p.L355R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1064G	21						.						80.0	56.0	64.0					21																	28214671		2203	4300	6503	27136542	SO:0001583	missense	9510	exon2			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1064T>G	21.37:g.28214671A>C	ENSP00000284984:p.Leu355Arg		27136542	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.85|18.85	3.711865|3.711865	0.68730|0.68730	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000451462|ENST00000284984;ENST00000517777;ENST00000517452	.|T;T;T	.|0.79454	.|-1.27;-1.27;-1.27	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.|.	.|.	.|.	.|.	D|D	0.90875|0.90875	0.7133|0.7133	M|M	0.94021|0.94021	3.485|3.485	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.93211|0.93211	0.6600|0.6600	5|9	.|0.87932	.|D	.|0	.|.	15.3726|15.3726	0.74577|0.74577	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|355	.|Q9UHI8	.|ATS1_HUMAN	V|R	137|355;93;117	.|ENSP00000284984:L355R;ENSP00000429557:L93R;ENSP00000431065:L117R	.|ENSP00000284984:L355R	F|L	-|-	1|2	0|0	ADAMTS1|ADAMTS1	27136542|27136542	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.589000|0.589000	0.36550|0.36550	9.139000|9.139000	0.94554|0.94554	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
ADAMTS1	9510	broad.mit.edu	37	21	28214980	28214980	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:28214980C>T	ENST00000284984.3	-	2	1209	c.755G>A	c.(754-756)cGa>cAa	p.R252Q		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	252					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R252Q(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGACACAAATCGCTTCTTTCT	0.433																																					p.R252Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	21						.						55.0	54.0	55.0					21																	28214980		2203	4300	6503	27136851	SO:0001583	missense	9510	exon2			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.755G>A	21.37:g.28214980C>T	ENSP00000284984:p.Arg252Gln		27136851	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	CCDS33524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.733797|5.733797	0.96865|0.96865	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000451462|ENST00000284984;ENST00000517452	.|T;D	.|0.85013	.|-0.25;-1.93	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Metallopeptidase, catalytic domain (1);	.|.	.|.	.|.	.|.	D|D	0.85191|0.85191	0.5640|0.5640	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69307	.|0.963	D|D	0.88628|0.88628	0.3167|0.3167	5|9	.|0.87932	.|D	.|0	.|.	19.3096|19.3096	0.94182|0.94182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252	.|Q9UHI8	.|ATS1_HUMAN	N|Q	34|252;14	.|ENSP00000284984:R252Q;ENSP00000431065:R14Q	.|ENSP00000284984:R252Q	D|R	-|-	1|2	0|0	ADAMTS1|ADAMTS1	27136851|27136851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.320000|7.320000	0.79064|0.79064	2.792000|2.792000	0.96026|0.96026	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
LTN1	26046	broad.mit.edu	37	21	30325676	30325676	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30325676C>T	ENST00000361371.5	-	17	3181	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	LTN1_ENST00000389194.2_Silent_p.L1080L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1034					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L1034L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CACACCACTGCAGTGAATAAA	0.343																																					p.L1080L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3240A	21						.						58.0	59.0	59.0					21																	30325676		2202	4300	6502	29247547	SO:0001819	synonymous_variant	26046	exon17			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3102G>A	21.37:g.30325676C>T			29247547	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37																																																																																					0.343	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
LTN1	26046	broad.mit.edu	37	21	30332891	30332891	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30332891G>T	ENST00000361371.5	-	12	2380	c.2301C>A	c.(2299-2301)ttC>ttA	p.F767L	LTN1_ENST00000389194.2_Missense_Mutation_p.F813L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	767					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F767L(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATCTTTCTGAGAAGTGAGATT	0.393																																					p.F813L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2439A	21						.						102.0	91.0	95.0					21																	30332891		2203	4300	6503	29254762	SO:0001583	missense	26046	exon12			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2301C>A	21.37:g.30332891G>T	ENSP00000354977:p.Phe767Leu		29254762	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	6.729	0.503284	0.12822	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.15718	2.4;2.41	5.25	1.41	0.22369	.	0.553031	0.21217	N	0.078213	T	0.06234	0.0161	N	0.08118	0	0.09310	N	0.999999	B	0.15473	0.013	B	0.11329	0.006	T	0.40421	-0.9564	10	0.11485	T	0.65	.	4.7757	0.13178	0.3561:0.0:0.5012:0.1427	.	767	O94822	LTN1_HUMAN	L	813;767	ENSP00000373846:F813L;ENSP00000354977:F767L	ENSP00000354977:F767L	F	-	3	2	LTN1	29254762	0.969000	0.33509	0.779000	0.31741	0.949000	0.60115	1.320000	0.33666	0.152000	0.19188	0.591000	0.81541	TTC		0.393	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
LTN1	26046	broad.mit.edu	37	21	30341850	30341850	+	Missense_Mutation	SNP	G	G	A	rs369131368		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30341850G>A	ENST00000361371.5	-	9	1328	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	LTN1_ENST00000389194.2_Missense_Mutation_p.R463C|LTN1_ENST00000389195.2_Missense_Mutation_p.R463C			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	417					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R417C(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTATAAAACGTAAGCATTCA	0.363																																					p.R463C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1387T	21						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	112.0	113.0		1387	4.9	1.0	21		113	0,8600		0,0,4300	no	missense	LTN1	NM_015565.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	463/1813	30341850	1,13005	2203	4300	6503	29263721	SO:0001583	missense	26046	exon9			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1249C>T	21.37:g.30341850G>A	ENSP00000354977:p.Arg417Cys		29263721	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	G	17.10	3.302471	0.60195	2.27E-4	0.0	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66815	3.56;3.56;-0.23	4.91	4.91	0.64330	Armadillo-type fold (1);	0.117788	0.56097	D	0.000030	T	0.58133	0.2101	L	0.49126	1.545	0.80722	D	1	B	0.33135	0.399	B	0.23275	0.045	T	0.59674	-0.7410	10	0.39692	T	0.17	.	15.4727	0.75453	0.0:0.0:1.0:0.0	.	417	O94822	LTN1_HUMAN	C	463;417;419;463	ENSP00000373846:R463C;ENSP00000354977:R417C;ENSP00000373847:R463C	ENSP00000354977:R417C	R	-	1	0	LTN1	29263721	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.225000	0.51246	2.721000	0.93114	0.655000	0.94253	CGT		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
CCT8	10694	broad.mit.edu	37	21	30426503	30426503	+	IGR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30426503C>A	ENST00000286788.4	-	0	2005				CCT8_ENST00000470450.1_5'Flank|USP16_ENST00000399975.3_Missense_Mutation_p.L822M|USP16_ENST00000535828.1_Missense_Mutation_p.L452M|USP16_ENST00000399976.2_Missense_Mutation_p.L823M|USP16_ENST00000334352.4_Missense_Mutation_p.L823M	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.L823M(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TGAGAGAATACTGTAATAATA	0.338																																					p.L822M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2464A	21						.						47.0	47.0	47.0					21																	30426503		2203	4300	6503	29348374	SO:0001628	intergenic_variant	10600	exon18			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595		21.37:g.30426503C>A			29348374	NM_001001992	A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011207	0.35511	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.55413	2.57;2.56;2.56;0.52	5.05	0.0295	0.14163	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.164922	0.41294	D	0.000920	T	0.65502	0.2697	M	0.75777	2.31	0.41614	D	0.988924	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.91635	0.917;0.999;0.991;0.987	T	0.63310	-0.6666	10	0.72032	D	0.01	.	6.9802	0.24698	0.0:0.6226:0.1143:0.2631	.	452;808;822;823	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	M	822;823;823;452	ENSP00000382857:L822M;ENSP00000382858:L823M;ENSP00000334808:L823M;ENSP00000442855:L452M	ENSP00000334808:L823M	L	+	1	2	USP16	29348374	0.996000	0.38824	0.442000	0.26870	0.420000	0.31355	1.222000	0.32515	-0.090000	0.12462	-0.263000	0.10527	CTG		0.338	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		
BACH1	571	broad.mit.edu	37	21	30698986	30698986	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30698986G>A	ENST00000399921.1	+	3	1084	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	BACH1_ENST00000286800.3_Missense_Mutation_p.E281K	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E281K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAAATGTGACGAAAGTAAATT	0.428																																					p.E281K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841A	21						.						69.0	69.0	69.0					21																	30698986		2203	4300	6503	29620857	SO:0001583	missense	571	exon3			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.841G>A	21.37:g.30698986G>A	ENSP00000382805:p.Glu281Lys		29620857	NM_206866	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291368	0.40494	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.71698	-0.59;-0.59	5.65	5.65	0.86999	.	0.332804	0.33253	N	0.005109	T	0.48750	0.1517	L	0.27053	0.805	0.30854	N	0.734309	P	0.41710	0.76	B	0.22152	0.038	T	0.54925	-0.8220	10	0.15066	T	0.55	-10.8092	14.091	0.64990	0.071:0.0:0.929:0.0	.	281	O14867	BACH1_HUMAN	K	281	ENSP00000286800:E281K;ENSP00000382805:E281K	ENSP00000286800:E281K	E	+	1	0	BACH1	29620857	0.975000	0.34042	0.438000	0.26821	0.581000	0.36288	2.559000	0.45888	2.941000	0.99782	0.655000	0.94253	GAA		0.428	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
BACH1	571	broad.mit.edu	37	21	30701851	30701851	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:30701851G>A	ENST00000399921.1	+	4	1856	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	BACH1_ENST00000286800.3_Missense_Mutation_p.R538Q	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R538Q(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TCACTGTCTCGAAATGATTTT	0.318																																					p.R538Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1613A	21						.						75.0	72.0	73.0					21																	30701851		2203	4299	6502	29623722	SO:0001583	missense	571	exon4			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1613G>A	21.37:g.30701851G>A	ENSP00000382805:p.Arg538Gln		29623722	NM_206866	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.582710|5.582710	0.96578|0.96578	.|.	.|.	ENSG00000156273|ENSG00000156273	ENST00000551628|ENST00000286800;ENST00000399921	.|D;D	.|0.91945	.|-2.94;-2.94	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	.|0.000000	.|0.64402	.|D	.|0.000008	D|D	0.95456|0.95456	0.8524|0.8524	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74023	.|0.982	D|D	0.95612|0.95612	0.8673|0.8673	5|10	.|0.72032	.|D	.|0.01	-13.3532|-13.3532	19.2326|19.2326	0.93846|0.93846	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|538	.|O14867	.|BACH1_HUMAN	K|Q	32|538	.|ENSP00000286800:R538Q;ENSP00000382805:R538Q	.|ENSP00000286800:R538Q	E|R	+|+	1|2	0|0	BACH1|BACH1	29623722|29623722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.814000|9.814000	0.99346|0.99346	2.553000|2.553000	0.86117|0.86117	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.318	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
KRTAP23-1	337963	broad.mit.edu	37	21	31720883	31720883	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:31720883G>T	ENST00000334160.4	-	1	41	c.42C>A	c.(40-42)tcC>tcA	p.S14S		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	14						intermediate filament (GO:0005882)		p.S14S(1)		large_intestine(1)|lung(4)|prostate(1)	6						AGCCCTCACAGGAATGGGAGG	0.552																																					p.S14S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C42A	21						.						169.0	129.0	143.0					21																	31720883		2203	4300	6503	30642754	SO:0001819	synonymous_variant	337963	exon1			AP001708	CCDS33533.1	21q22.1	2008-05-21			ENSG00000186980	ENSG00000186980		"""Keratin associated proteins"""	18928	protein-coding gene	gene with protein product						12359730	Standard	NM_181624		Approved	KAP23.1	uc002yny.1	A1A580	OTTHUMG00000057792	ENST00000334160.4:c.42C>A	21.37:g.31720883G>T			30642754	NM_181624		Silent	SNP	ENST00000334160.4	37	CCDS33533.1																																																																																				0.552	KRTAP23-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128244.4		
KRTAP13-4	284827	broad.mit.edu	37	21	31802974	31802974	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:31802974C>T	ENST00000334068.2	+	1	403	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	127						intermediate filament (GO:0005882)		p.Y127Y(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCCTGAGTTACGGATCCAGAT	0.498																																					p.Y127Y	NSCLC(196;2401 3038 18004 35753)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C381T	21						.						106.0	93.0	97.0					21																	31802974		2203	4300	6503	30724845	SO:0001819	synonymous_variant	284827	exon1			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.381C>T	21.37:g.31802974C>T			30724845	NM_181600	A2RRL3	Silent	SNP	ENST00000334068.2	37	CCDS13592.1																																																																																				0.498	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1		
KRTAP6-2	337967	broad.mit.edu	37	21	31971175	31971175	+	Missense_Mutation	SNP	C	C	T	rs199532937		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:31971175C>T	ENST00000334897.3	-	1	44	c.19G>A	c.(19-21)Gga>Aga	p.G7R	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	7						intermediate filament (GO:0005882)		p.G7R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGTAGTTTCCGTAGTAGCTG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		18364	0.001		0.0	False		,,,				2504	0.0				p.G7R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	21						.						202.0	167.0	179.0					21																	31971175		2203	4300	6503	30893046	SO:0001583	missense	337967	exon1			AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.19G>A	21.37:g.31971175C>T	ENSP00000334560:p.Gly7Arg		30893046	NM_181604		Missense_Mutation	SNP	ENST00000334897.3	37	CCDS13600.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.21	1.286253	0.23478	.	.	ENSG00000186930	ENST00000334897	T	0.09538	2.97	4.47	0.564	0.17302	.	0.000000	0.38164	U	0.001792	T	0.06188	0.0160	.	.	.	0.25362	N	0.988776	P	0.43352	0.804	B	0.37144	0.242	T	0.31280	-0.9949	9	0.87932	D	0	.	1.4449	0.02362	0.1748:0.4664:0.1694:0.1895	.	7	Q3LI66	KRA62_HUMAN	R	7	ENSP00000334560:G7R	ENSP00000334560:G7R	G	-	1	0	KRTAP6-2	30893046	0.851000	0.29673	0.929000	0.37066	0.734000	0.41952	0.238000	0.18004	0.100000	0.17581	0.650000	0.86243	GGA		0.522	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3		
KRTAP8-1	337879	broad.mit.edu	37	21	32185526	32185526	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:32185526T>A	ENST00000329621.4	-	1	44	c.13A>T	c.(13-15)Aac>Tac	p.N5Y		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	5						intermediate filament (GO:0005882)		p.N5Y(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CCGGGGAAGTTGTCGCAGAGC	0.552																																					p.N5Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13T	21						.						77.0	67.0	71.0					21																	32185526		2203	4300	6503	31107397	SO:0001583	missense	337879	exon1			AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.13A>T	21.37:g.32185526T>A	ENSP00000332805:p.Asn5Tyr		31107397	NM_175857	Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	T	0.661	-0.805694	0.02819	.	.	ENSG00000183640	ENST00000329621	.	.	.	4.36	0.552	0.17230	.	1.358030	0.04605	N	0.399143	T	0.30978	0.0782	.	.	.	0.09310	N	1	B	0.27286	0.174	B	0.30646	0.118	T	0.30707	-0.9969	8	0.51188	T	0.08	-6.0673	2.3992	0.04397	0.4261:0.1438:0.0:0.4301	.	5	Q8IUC2	KRA81_HUMAN	Y	5	.	ENSP00000332805:N5Y	N	-	1	0	KRTAP8-1	31107397	0.022000	0.18835	0.003000	0.11579	0.008000	0.06430	-0.184000	0.09698	0.085000	0.17107	0.455000	0.32223	AAC		0.552	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1		
TIAM1	7074	broad.mit.edu	37	21	32508292	32508292	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:32508292G>A	ENST00000286827.3	-	24	4313	c.3842C>T	c.(3841-3843)tCg>tTg	p.S1281L	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1221L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1281	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1281L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCCCAGCGAGGCCGGCGG	0.502																																					p.S1281L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3842T	21						.						98.0	95.0	96.0					21																	32508292		2203	4300	6503	31430163	SO:0001583	missense	7074	exon24				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3842C>T	21.37:g.32508292G>A	ENSP00000286827:p.Ser1281Leu		31430163	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372194	0.82573	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.49432	0.78;0.81	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	M	0.72894	2.215	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.987	B;B;B	0.41440	0.357;0.195;0.195	T	0.60475	-0.7256	10	0.54805	T	0.06	.	19.3968	0.94610	0.0:0.0:1.0:0.0	.	1221;1221;1281	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1281;1221	ENSP00000286827:S1281L;ENSP00000441570:S1221L	ENSP00000286827:S1281L	S	-	2	0	TIAM1	31430163	1.000000	0.71417	0.934000	0.37439	0.759000	0.43091	9.810000	0.99221	2.565000	0.86533	0.655000	0.94253	TCG		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32582480	32582480	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:32582480C>T	ENST00000286827.3	-	12	2740	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	TIAM1_ENST00000541036.1_Missense_Mutation_p.D732N|TIAM1_ENST00000469412.1_5'Flank	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	757					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D757N(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACCCAAATGTCGCAGTCAGGG	0.532																																					p.D757N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2269A	21						.						139.0	120.0	126.0					21																	32582480		2203	4300	6503	31504351	SO:0001583	missense	7074	exon12				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2269G>A	21.37:g.32582480C>T	ENSP00000286827:p.Asp757Asn		31504351	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183263	0.94885	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.39997	1.31;1.05	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.63703	0.917;0.829;0.829	T	0.54050	-0.8351	10	0.62326	D	0.03	.	20.3324	0.98724	0.0:1.0:0.0:0.0	.	732;732;757	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	757;598;732	ENSP00000286827:D757N;ENSP00000441570:D732N	ENSP00000286827:D757N	D	-	1	0	TIAM1	31504351	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.465000	0.80898	2.799000	0.96334	0.650000	0.86243	GAC		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32617957	32617957	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:32617957G>A	ENST00000286827.3	-	7	1902	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	TIAM1_ENST00000541036.1_Silent_p.Y477Y|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	477	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y477Y(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGTCGCTCTCGTAGAAAAATA	0.527																																					p.Y477Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1431T	21						.						63.0	55.0	58.0					21																	32617957		2203	4300	6503	31539828	SO:0001819	synonymous_variant	7074	exon7				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1431C>T	21.37:g.32617957G>A			31539828	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32638995	32638995	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:32638995C>A	ENST00000286827.3	-	5	765	c.294G>T	c.(292-294)ttG>ttT	p.L98F	TIAM1_ENST00000541036.1_Missense_Mutation_p.L98F|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	98					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L98F(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACACAGGTCTCAAGCCCATGT	0.577																																					p.L98F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G294T	21						.						81.0	75.0	77.0					21																	32638995		2203	4300	6503	31560866	SO:0001583	missense	7074	exon5				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.294G>T	21.37:g.32638995C>A	ENSP00000286827:p.Leu98Phe		31560866	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443115	0.83993	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.57273	0.46;0.41	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.68723	0.3032	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.995	D;P;P	0.65987	0.94;0.873;0.873	T	0.71347	-0.4620	10	0.87932	D	0	.	19.0706	0.93134	0.0:1.0:0.0:0.0	.	98;98;98	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	F	98	ENSP00000286827:L98F;ENSP00000441570:L98F	ENSP00000286827:L98F	L	-	3	2	TIAM1	31560866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.851000	0.48302	2.505000	0.84491	0.591000	0.81541	TTG		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
HUNK	30811	broad.mit.edu	37	21	33346966	33346966	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:33346966C>T	ENST00000270112.2	+	7	1470	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	370					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R370R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TCTCCAACCGCGCCTGCCACA	0.542																																					p.R370R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1110T	21						.						95.0	85.0	88.0					21																	33346966		2203	4300	6503	32268837	SO:0001819	synonymous_variant	30811	exon7			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1110C>T	21.37:g.33346966C>T			32268837	NM_014586		Silent	SNP	ENST00000270112.2	37	CCDS13610.1																																																																																				0.542	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
EVA1C	59271	broad.mit.edu	37	21	33840103	33840103	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:33840103G>T	ENST00000300255.2	+	4	1054	c.581G>T	c.(580-582)aGg>aTg	p.R194M	EVA1C_ENST00000401402.3_Missense_Mutation_p.R194M|EVA1C_ENST00000382699.3_Missense_Mutation_p.R194M	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	194	SUEL-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R194M(1)									TACGGCAGGAGGACCCAGGAA	0.512																																					p.R194M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581T	21						.						81.0	65.0	70.0					21																	33840103		2203	4300	6503	32761974	SO:0001583	missense	59271	exon4			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.581G>T	21.37:g.33840103G>T	ENSP00000300255:p.Arg194Met		32761974	NM_058187	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479122	0.44044	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.18174	2.23;3.08;2.23;2.23	5.61	-0.224	0.13115	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.571397	0.20776	N	0.085895	T	0.19765	0.0475	L	0.58583	1.82	0.27810	N	0.942185	P;P;P	0.45348	0.854;0.808;0.856	P;P;B	0.51550	0.673;0.663;0.423	T	0.06427	-1.0827	10	0.34782	T	0.22	-5.9658	3.0333	0.06113	0.2475:0.2286:0.4295:0.0944	.	194;194;194	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	M	194;194;194;99	ENSP00000300255:R194M;ENSP00000384594:R194M;ENSP00000372146:R194M;ENSP00000389269:R99M	ENSP00000300255:R194M	R	+	2	0	C21orf63	32761974	0.881000	0.30235	0.999000	0.59377	0.921000	0.55340	0.308000	0.19314	0.276000	0.22118	0.650000	0.86243	AGG		0.512	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
EVA1C	59271	broad.mit.edu	37	21	33876261	33876261	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:33876261G>A	ENST00000300255.2	+	7	1358	c.885G>A	c.(883-885)tcG>tcA	p.S295S	EVA1C_ENST00000401402.3_Silent_p.S247S|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000382699.3_Silent_p.S292S	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	295						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S295S(1)									CAAGCGGATCGAAGGTTCTGA	0.423																																					p.S295S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G885A	21						.						140.0	133.0	136.0					21																	33876261		2203	4300	6503	32798132	SO:0001819	synonymous_variant	59271	exon7			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.885G>A	21.37:g.33876261G>A			32798132	NM_058187	A6ND58|Q8IXZ0	Silent	SNP	ENST00000300255.2	37	CCDS13614.1																																																																																				0.423	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
SYNJ1	8867	broad.mit.edu	37	21	34050985	34050985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34050985G>A	ENST00000322229.7	-	11	1479	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R497*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R533*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R533*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R494*			O43426	SYNJ1_HUMAN	synaptojanin 1	494					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R494*(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAAAGTGCTCGAGCTTTGTCA	0.353																																					p.R533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1597T	21						.						89.0	84.0	86.0					21																	34050985		2203	4300	6503	32972856	SO:0001587	stop_gained	8867	exon12			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1480C>T	21.37:g.34050985G>A	ENSP00000322234:p.Arg494*		32972856	NM_003895	O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.327611	0.97476	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.99	4.15	0.48705	.	0.058295	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2515	0.66023	0.0:0.0:0.6088:0.3912	.	.	.	.	X	497;494;533;533;494;497	.	ENSP00000322234:R494X	R	-	1	2	SYNJ1	32972856	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.570000	0.67398	0.828000	0.34709	-0.127000	0.14921	CGA		0.353	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
SYNJ1	8867	broad.mit.edu	37	21	34072370	34072370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34072370G>T	ENST00000322229.7	-	3	256	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	SYNJ1_ENST00000382491.3_Missense_Mutation_p.S86Y|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S125Y|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S125Y|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S86Y			O43426	SYNJ1_HUMAN	synaptojanin 1	86					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.S86Y(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTTCCAACAGACATACATCC	0.373																																					p.S125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C374A	21						.						68.0	72.0	70.0					21																	34072370		2203	4300	6503	32994241	SO:0001583	missense	8867	exon4			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.257C>A	21.37:g.34072370G>T	ENSP00000322234:p.Ser86Tyr		32994241	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821844	0.90873	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.6	5.6	0.85130	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;1.0;0.998;0.998	T	0.81120	-0.1077	10	0.87932	D	0	.	19.6209	0.95654	0.0:0.0:1.0:0.0	.	86;125;86;86;86	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Y	86;86;125;125;86;86;86	ENSP00000371931:S86Y;ENSP00000349903:S86Y;ENSP00000371939:S125Y;ENSP00000409667:S125Y;ENSP00000322234:S86Y;ENSP00000413649:S86Y;ENSP00000412707:S86Y	ENSP00000322234:S86Y	S	-	2	0	SYNJ1	32994241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	2.646000	0.89796	0.585000	0.79938	TCT		0.373	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PAXBP1	94104	broad.mit.edu	37	21	34107272	34107272	+	Missense_Mutation	SNP	C	C	T	rs143512881		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34107272C>T	ENST00000331923.4	-	18	2932	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	PAXBP1-AS1_ENST00000458479.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	915					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E915K(1)									TATTTTCCTTCGATCAAAGAC	0.318																																					p.E915K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2743A	21						.						88.0	81.0	84.0					21																	34107272		2202	4299	6501	33029143	SO:0001583	missense	94104	exon18			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2743G>A	21.37:g.34107272C>T	ENSP00000328992:p.Glu915Lys		33029143	NM_016631	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652357	0.67472	.	.	ENSG00000159086	ENST00000331923	T	0.26223	1.75	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.71184	0.972;0.691	T	0.03453	-1.1035	10	0.14252	T	0.57	-28.1019	19.072	0.93143	0.0:1.0:0.0:0.0	.	915;424	Q9Y5B6;B3KSC0	GCFC1_HUMAN;.	K	915	ENSP00000328992:E915K	ENSP00000328992:E915K	E	-	1	0	GCFC1	33029143	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	6.059000	0.71133	2.688000	0.91661	0.551000	0.68910	GAA		0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
PAXBP1	94104	broad.mit.edu	37	21	34123228	34123228	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34123228C>T	ENST00000331923.4	-	10	1912	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	PAXBP1_ENST00000290178.4_Splice_Site_p.D575N	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	575					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D575N(1)									AATGTCTAACCTTTTTCCAGA	0.358																																					p.D575N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1723A	21						.						86.0	87.0	87.0					21																	34123228		2203	4300	6503	33045099	SO:0001630	splice_region_variant	94104	exon10			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1723+1G>A	21.37:g.34123228C>T			33045099	NM_013329	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370176	0.95900	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.36340	1.66;1.26	5.46	5.46	0.80206	.	0.094831	0.64402	D	0.000001	T	0.51024	0.1650	M	0.72118	2.19	0.80722	D	1	D;P;P	0.56035	0.974;0.956;0.915	P;P;B	0.50659	0.647;0.63;0.321	T	0.50734	-0.8793	9	.	.	.	-22.1055	18.9016	0.92444	0.0:1.0:0.0:0.0	.	575;575;84	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	N	575	ENSP00000328992:D575N;ENSP00000290178:D575N	.	D	-	1	0	GCFC1	33045099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.574000	0.86865	0.557000	0.71058	GAT		0.358	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	Missense_Mutation
PAXBP1	94104	broad.mit.edu	37	21	34134471	34134471	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34134471C>T	ENST00000331923.4	-	4	996	c.807G>A	c.(805-807)gaG>gaA	p.E269E	PAXBP1_ENST00000290178.4_Silent_p.E269E|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	269					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E269E(1)									TCCGGCGTTTCTCATCGTCAT	0.383																																					p.E269E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G807A	21						.						130.0	131.0	131.0					21																	34134471		2203	4300	6503	33056342	SO:0001819	synonymous_variant	94104	exon4			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.807G>A	21.37:g.34134471C>T			33056342	NM_013329	D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	CCDS13619.1																																																																																				0.383	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
IFNAR2	3455	broad.mit.edu	37	21	34617284	34617284	+	Missense_Mutation	SNP	G	G	T	rs9754221		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34617284G>T	ENST00000342136.4	+	4	452	c.126G>T	c.(124-126)aaG>aaT	p.K42N	IFNAR2_ENST00000404220.3_Missense_Mutation_p.K42N|IFNAR2_ENST00000342101.3_Missense_Mutation_p.K42N|IFNAR2_ENST00000382264.3_Missense_Mutation_p.K42N|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.K42N|IFNAR2_ENST00000420068.1_Intron|AP000295.9_ENST00000433395.2_5'Flank			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	42					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)	p.K42N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GCACTTTCAAGATATCATTGC	0.373																																					p.K42N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G126T	21						.						160.0	154.0	156.0					21																	34617284		2202	4298	6500	33539154	SO:0001583	missense	3455	exon4				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.126G>T	21.37:g.34617284G>T	ENSP00000343957:p.Lys42Asn		33539154	NM_207584	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590751	0.13812	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000447980	T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.81	-3.22	0.05125	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.035900	0.07553	N	0.915813	T	0.52885	0.1762	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23854	0.092;0.049;0.04	B;B;B	0.27887	0.084;0.08;0.055	T	0.35798	-0.9774	10	0.12430	T	0.62	.	1.9816	0.03427	0.2467:0.3856:0.2364:0.1312	.	42;42;42	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	N	42;42;42;42;42;66	ENSP00000371699:K42N;ENSP00000384309:K42N;ENSP00000371676:K42N;ENSP00000343957:K42N;ENSP00000343289:K42N;ENSP00000402311:K66N	ENSP00000343289:K42N	K	+	3	2	IFNAR2	33539154	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.698000	0.05092	-0.994000	0.03463	-0.291000	0.09656	AAG		0.373	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1		
IFNAR2	3455	broad.mit.edu	37	21	34632960	34632960	+	Silent	SNP	C	C	A	rs567371989		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34632960C>A	ENST00000342136.4	+	8	1094	c.768C>A	c.(766-768)gtC>gtA	p.V256V	IFNAR2_ENST00000404220.3_Silent_p.V256V|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000382264.3_Silent_p.V256V|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000382241.3_Silent_p.V256V|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	256					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)	p.V256V(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TAGCATTGGTCTTGACAAGCA	0.323																																					p.V256V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768A	21						.						136.0	138.0	137.0					21																	34632960		2203	4299	6502	33554830	SO:0001819	synonymous_variant	3455	exon8				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.768C>A	21.37:g.34632960C>A			33554830	NM_207584	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	37	CCDS13621.1																																																																																				0.323	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1		
IL10RB	3588	broad.mit.edu	37	21	34655474	34655474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34655474C>T	ENST00000290200.2	+	5	682	c.574C>T	c.(574-576)Cga>Tga	p.R192*	AP000295.9_ENST00000433395.2_Silent_p.F319F	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	192	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R192*(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TGTTCAAGTTCGAGGGTTTCT	0.463																																					p.R192X	Melanoma(67;315 1275 21667 21943 44564)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C574T	21						.						150.0	131.0	137.0					21																	34655474		2203	4300	6503	33577344	SO:0001587	stop_gained	3588	exon5			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.574C>T	21.37:g.34655474C>T	ENSP00000290200:p.Arg192*		33577344	NM_000628	Q9BUU4	Nonsense_Mutation	SNP	ENST00000290200.2	37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585763	0.96578	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	.	.	.	5.39	5.39	0.77823	.	0.644606	0.16041	N	0.232422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.3172	14.674	0.68964	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000290200:R192X	R	+	1	2	IL10RB	33577344	0.972000	0.33761	0.970000	0.41538	0.987000	0.75469	4.136000	0.58004	2.526000	0.85167	0.561000	0.74099	CGA		0.463	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
IFNGR2	3460	broad.mit.edu	37	21	34805069	34805069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34805069C>A	ENST00000290219.6	+	6	1418	c.770C>A	c.(769-771)tCg>tAg	p.S257*	IFNGR2_ENST00000405436.1_Nonsense_Mutation_p.S178*|IFNGR2_ENST00000381995.1_Nonsense_Mutation_p.S276*	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	257					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.S257*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GGAACATTTTCGTTGCTGTCG	0.473																																					p.S257X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C770A	21						.						146.0	137.0	140.0					21																	34805069		2203	4300	6503	33726939	SO:0001587	stop_gained	3460	exon6				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.770C>A	21.37:g.34805069C>A	ENSP00000290219:p.Ser257*		33726939	NM_005534	Q9BTL5	Nonsense_Mutation	SNP	ENST00000290219.6	37	CCDS33544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765975|4.765975	0.90020|0.90020	.|.	.|.	ENSG00000159128|ENSG00000159128	ENST00000421802|ENST00000290219;ENST00000381995;ENST00000405436	.|.	.|.	.|.	5.53|5.53	-0.485|-0.485	0.12067|0.12067	.|.	.|2.142320	.|0.01825	.|N	.|0.034334	T|.	0.20700|.	0.0498|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14868|.	-1.0457|.	4|.	.|0.12103	.|T	.|0.63	-22.2222|-22.2222	8.9566|8.9566	0.35820|0.35820	0.0:0.4158:0.0:0.5842|0.0:0.4158:0.0:0.5842	.|.	.|.	.|.	.|.	S|X	23|257;276;178	.|.	.|ENSP00000290219:S257X	R|S	+|+	1|2	0|0	IFNGR2|IFNGR2	33726939|33726939	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.160000|0.160000	0.22226|0.22226	-0.002000|-0.002000	0.12924|0.12924	-0.019000|-0.019000	0.14055|0.14055	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.473	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
SON	6651	broad.mit.edu	37	21	34921915	34921915	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34921915A>C	ENST00000356577.4	+	3	853	c.378A>C	c.(376-378)gaA>gaC	p.E126D	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.E126D|SON_ENST00000300278.4_Missense_Mutation_p.E126D|SON_ENST00000381679.4_Missense_Mutation_p.E126D	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	126				E -> K (in Ref. 7; BAB14985). {ECO:0000305}.	cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E126D(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						aagaaaaggaaaaaaaaTATA	0.299											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.E126D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A378C	21						.						23.0	26.0	25.0					21																	34921915		2192	4296	6488	33843785	SO:0001583	missense	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.378A>C	21.37:g.34921915A>C	ENSP00000348984:p.Glu126Asp	851	33843785	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464359	0.63513	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.77	0.535	0.17133	.	0.106418	0.41938	D	0.000791	T	0.22166	0.0534	L	0.27053	0.805	0.22521	N	0.999026	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.78314	0.98;0.991;0.991	T	0.05733	-1.0867	10	0.41790	T	0.15	.	7.9612	0.30072	0.4419:0.0:0.5581:0.0	.	126;126;126	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	D	126	ENSP00000348984:E126D;ENSP00000290239:E126D;ENSP00000300278:E126D;ENSP00000371095:E126D	ENSP00000290239:E126D	E	+	3	2	SON	33843785	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.196000	0.32198	0.192000	0.20272	0.533000	0.62120	GAA		0.299	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
SON	6651	broad.mit.edu	37	21	34925830	34925830	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34925830G>T	ENST00000356577.4	+	3	4768	c.4293G>T	c.(4291-4293)atG>atT	p.M1431I	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M1431I|SON_ENST00000300278.4_Missense_Mutation_p.M1431I|SON_ENST00000381679.4_Missense_Mutation_p.M1431I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1431					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M1431I(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCTTCTATGATTGTTTCAG	0.493																																					p.M1431I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4293T	21						.						109.0	96.0	100.0					21																	34925830		2203	4300	6503	33847700	SO:0001583	missense	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4293G>T	21.37:g.34925830G>T	ENSP00000348984:p.Met1431Ile		33847700	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.824|5.824	0.336281|0.336281	0.11013|0.11013	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.11821|.	2.95;2.93;2.92;2.74|.	5.19|5.19	3.37|3.37	0.38596|0.38596	.|.	0.854617|.	0.10417|.	N|.	0.677185|.	T|.	0.38665|.	0.1049|.	L|L	0.44542|0.44542	1.39|1.39	0.25969|0.25969	N|N	0.982526|0.982526	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.001;0.001|.	T|.	0.22487|.	-1.0215|.	10|.	0.19147|.	T|.	0.46|.	.|.	8.0736|8.0736	0.30704|0.30704	0.0835:0.0:0.758:0.1585|0.0835:0.0:0.758:0.1585	.|.	1431;1431;1112;1431;1431|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|L	1431|426	ENSP00000348984:M1431I;ENSP00000290239:M1431I;ENSP00000300278:M1431I;ENSP00000371095:M1431I|.	ENSP00000290239:M1431I|.	M|X	+|+	3|2	0|2	SON|SON	33847700|33847700	0.978000|0.978000	0.34361|0.34361	0.599000|0.599000	0.28851|0.28851	0.622000|0.622000	0.37654|0.37654	1.612000|1.612000	0.36889|0.36889	0.748000|0.748000	0.32831|0.32831	-0.182000|-0.182000	0.12963|0.12963	ATG|TGA		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
SON	6651	broad.mit.edu	37	21	34927647	34927647	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34927647G>T	ENST00000356577.4	+	3	6585	c.6110G>T	c.(6109-6111)aGa>aTa	p.R2037I	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.R2037I|SON_ENST00000300278.4_Missense_Mutation_p.R2037I|SON_ENST00000381679.4_Missense_Mutation_p.R2037I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2037	3 X tandem repeats of [ST]-P-[VLI]-R- [RL]-[RK]-[RF]-S-R.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R2037I(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGTCGTAAAAGATCCAGGTCT	0.423																																					p.R2037I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6110T	21						.						78.0	75.0	76.0					21																	34927647		2203	4300	6503	33849517	SO:0001583	missense	6651	exon3			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6110G>T	21.37:g.34927647G>T	ENSP00000348984:p.Arg2037Ile		33849517	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.15|16.15	3.040804|3.040804	0.55003|0.55003	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541	.|T;T;T;T	.|0.24908	.|2.33;2.33;2.32;1.83	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.49305	.|D	.|0.000159	T|T	0.47655|0.47655	0.1457|0.1457	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.996;0.994;0.997;0.997;0.997	T|T	0.38045|0.38045	-0.9679|-0.9679	5|10	.|0.62326	.|D	.|0.03	.|.	18.0847|18.0847	0.89454|0.89454	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2037;2037;1718;2037;2037	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	Y|I	1032|2037;2037;2037;2037;98	.|ENSP00000348984:R2037I;ENSP00000290239:R2037I;ENSP00000300278:R2037I;ENSP00000371095:R2037I	.|ENSP00000290239:R2037I	D|R	+|+	1|2	0|0	SON|SON	33849517|33849517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.920000|6.920000	0.75799|0.75799	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.423	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
SON	6651	broad.mit.edu	37	21	34929576	34929576	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34929576A>G	ENST00000356577.4	+	4	6750	c.6275A>G	c.(6274-6276)aAa>aGa	p.K2092R	SON_ENST00000381692.2_Missense_Mutation_p.K120R|SON_ENST00000290239.6_Missense_Mutation_p.K2092R|SON_ENST00000300278.4_Missense_Mutation_p.K2092R|SON_ENST00000381679.4_Missense_Mutation_p.K2092R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2092					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K2092R(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATAGAAGAGAAAGTTGCTAAA	0.413																																					p.K2092R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6275G	21						.						63.0	60.0	61.0					21																	34929576		2203	4300	6503	33851446	SO:0001583	missense	6651	exon4			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6275A>G	21.37:g.34929576A>G	ENSP00000348984:p.Lys2092Arg		33851446	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.26|14.26	2.483827|2.483827	0.44147|0.44147	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000381679;ENST00000421541	T|T;T;T;T	0.26518|0.20738	1.73|2.72;2.69;2.66;2.05	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000022|0.000022	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.50333|0.50333	1.59|1.59	0.40805|0.40805	D|D	0.983377|0.983377	.|D;P;D;D;D;D	.|0.89917	.|1.0;0.948;0.997;0.998;0.998;0.998	.|D;B;D;D;D;D	.|0.85130	.|0.997;0.431;0.985;0.994;0.994;0.994	T|T	0.33497|0.33497	-0.9866|-0.9866	8|10	0.72032|0.72032	D|D	0.01|0.01	.|.	15.7499|15.7499	0.77976|0.77976	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2092;120;2092;1773;2092;2092	.|P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3;P18583-6	.|.;.;SON_HUMAN;.;.;.	E|R	1087|2092;2092;120;2092;2092;153	ENSP00000400985:K1087E|ENSP00000348984:K2092R;ENSP00000290239:K2092R;ENSP00000300278:K2092R;ENSP00000371095:K2092R	ENSP00000400985:K1087E|ENSP00000290239:K2092R	K|K	+|+	1|2	0|0	SON|SON	33851446|33851446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.184000|7.184000	0.77705|0.77705	2.188000|2.188000	0.69820|0.69820	0.533000|0.533000	0.62120|0.62120	AAG|AAA		0.413	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
DONSON	29980	broad.mit.edu	37	21	34951865	34951865	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34951865G>A	ENST00000303071.5	-	9	1420	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.R438W	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	452					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.R452W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TTCACACTCCGTGCCTTCATG	0.383																																					p.R452W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1354T	21						.						104.0	97.0	99.0					21																	34951865		2203	4300	6503	33873735	SO:0001583	missense	29980	exon9			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1354C>T	21.37:g.34951865G>A	ENSP00000307143:p.Arg452Trp		33873735	NM_017613	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061039|3.061039	0.55432|0.55432	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000303071|ENST00000440810	.|.	.|.	.|.	5.8|5.8	3.95|3.95	0.45737|0.45737	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77831|0.77831	0.4189|0.4189	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.79752|0.79752	-0.1671|-0.1671	9|5	0.72032|.	D|.	0.01|.	-14.1603|-14.1603	13.628|13.628	0.62178|0.62178	0.0:0.0:0.5927:0.4073|0.0:0.0:0.5927:0.4073	.|.	438;452|.	F8W8A5;Q9NYP3|.	.;DONS_HUMAN|.	W|M	438;452|223	.|.	ENSP00000307143:R452W|.	R|T	-|-	1|2	2|0	DONSON|DONSON	33873735|33873735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.393000|0.393000	0.30537|0.30537	3.631000|3.631000	0.54280|0.54280	0.760000|0.760000	0.33108|0.33108	0.453000|0.453000	0.30009|0.30009	CGG|ACG		0.383	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	
DONSON	29980	broad.mit.edu	37	21	34954270	34954270	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:34954270G>T	ENST00000303071.5	-	7	1204	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I	DONSON_ENST00000432378.1_Missense_Mutation_p.L380I|DONSON_ENST00000453626.1_Missense_Mutation_p.L380I|DONSON_ENST00000303113.6_Missense_Mutation_p.L366I	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	380					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.L380I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TTGATAGAAAGTATGTCTGGC	0.353																																					p.L380I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1138A	21						.						90.0	90.0	90.0					21																	34954270		2203	4300	6503	33876140	SO:0001583	missense	29980	exon7			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1138C>A	21.37:g.34954270G>T	ENSP00000307143:p.Leu380Ile		33876140	NM_017613	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	CCDS13632.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	5.329|5.329|5.329	0.246081|0.246081|0.246081	0.10077|0.10077|0.10077	.|.|.	.|.|.	ENSG00000159147|ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000440810|ENST00000437395	.|.|.	.|.|.	.|.|.	5.09|5.09|5.09	3.06|3.06|3.06	0.35304|0.35304|0.35304	.|.|.	0.382752|.|.	0.27406|.|.	N|.|.	0.019516|.|.	T|T|.	0.31231|0.31231|.	0.0790|0.0790|.	N|N|N	0.26130|0.26130|0.26130	0.795|0.795|0.795	0.09310|0.09310|0.09310	N|N|N	1|1|1	B;B|.|.	0.06786|.|.	0.001;0.001|.|.	B;B|.|.	0.08055|.|.	0.003;0.003|.|.	T|T|.	0.17319|0.17319|.	-1.0373|-1.0373|.	9|5|.	0.22109|.|.	T|.|.	0.4|.|.	-48.8622|-48.8622|-48.8622	8.0614|8.0614|8.0614	0.30635|0.30635|0.30635	0.0:0.127:0.3905:0.4825|0.0:0.127:0.3905:0.4825|0.0:0.127:0.3905:0.4825	.|.|.	366;380|.|.	F8W8A5;Q9NYP3|.|.	.;DONS_HUMAN|.|.	I|N|X	366;380;380;380|151|350	.|.|.	ENSP00000307143:L380I|.|.	L|T|Y	-|-|-	1|2|3	0|0|2	DONSON|DONSON|DONSON	33876140|33876140|33876140	0.228000|0.228000|0.228000	0.23718|0.23718|0.23718	0.023000|0.023000|0.023000	0.16930|0.16930|0.16930	0.860000|0.860000|0.860000	0.49131|0.49131|0.49131	1.644000|1.644000|1.644000	0.37228|0.37228|0.37228	1.402000|1.402000|1.402000	0.46780|0.46780|0.46780	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	CTT|ACT|TAC		0.353	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613	
ITSN1	6453	broad.mit.edu	37	21	35140024	35140024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35140024C>T	ENST00000381318.3	+	11	1222	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ITSN1_ENST00000379960.5_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R312*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R312*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R312*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R312*|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R312*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R275*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	312					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R312*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGAAGAGTTCGATCTGGCAG	0.388																																					p.R312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C934T	21						.						86.0	83.0	84.0					21																	35140024		2203	4300	6503	34061894	SO:0001587	stop_gained	6453	exon11			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.934C>T	21.37:g.35140024C>T	ENSP00000370719:p.Arg312*		34061894	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	40	7.958791	0.98583	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.71	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0996	0.81163	0.1351:0.8649:0.0:0.0	.	.	.	.	X	275;312;312;312;312;312;312;312;312;312;252;312;312;312;312	.	ENSP00000369294:R312X	R	+	1	2	ITSN1	34061894	0.981000	0.34729	0.943000	0.38184	0.994000	0.84299	1.919000	0.40015	1.407000	0.46875	0.462000	0.41574	CGA		0.388	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35144467	35144467	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35144467G>A	ENST00000381318.3	+	12	1433	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H|ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	382	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R382H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGCAGGAGCGCCTGGCCCAG	0.572																																					p.R382H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	21						.						52.0	58.0	56.0					21																	35144467		2203	4300	6503	34066337	SO:0001583	missense	6453	exon12			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1145G>A	21.37:g.35144467G>A	ENSP00000370719:p.Arg382His		34066337	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818434	0.90790	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.52;0.71;0.77;0.71;1.52;1.52;0.75;1.52;1.39;1.52;1.52;1.52;1.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D	0.80764	0.987;0.987;0.987;0.987;0.994;0.991;0.987;0.987;0.994;0.987	T	0.72523	-0.4267	10	0.87932	D	0	.	19.2198	0.93791	0.0:0.0:1.0:0.0	.	345;345;345;382;382;382;382;382;382;345	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	H	345;382;382;382;382;382;382;382;382;382;322;382;382;382;382	ENSP00000382290:R345H;ENSP00000370719:R382H;ENSP00000370691:R382H;ENSP00000370685:R382H;ENSP00000382301:R382H;ENSP00000382289:R382H;ENSP00000382292:R382H;ENSP00000382286:R382H;ENSP00000370683:R322H;ENSP00000382275:R382H;ENSP00000387377:R382H;ENSP00000382265:R382H;ENSP00000369294:R382H	ENSP00000369294:R382H	R	+	2	0	ITSN1	34066337	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.619000	0.98369	2.616000	0.88540	0.455000	0.32223	CGC		0.572	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35147383	35147383	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35147383G>A	ENST00000381318.3	+	14	1855	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	ITSN1_ENST00000379960.5_Missense_Mutation_p.E523K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E523K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E523K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E523K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E523K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E523K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E523K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E523K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E523K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E523K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E486K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	523	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E523K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGAATTGCCGAAATCACCCA	0.368																																					p.E523K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567A	21						.						99.0	102.0	101.0					21																	35147383		2203	4300	6503	34069253	SO:0001583	missense	6453	exon14			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1567G>A	21.37:g.35147383G>A	ENSP00000370719:p.Glu523Lys		34069253	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	36	5.698354	0.96802	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.52526	1.64;0.66;0.68;0.66;1.64;1.64;0.66;1.64;1.64;1.64;1.64;1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.99;0.998;1.0;0.999;0.999;0.999;1.0;1.0	D;P;P;P;D;P;P;P;D;P	0.83275	0.941;0.879;0.548;0.874;0.973;0.798;0.84;0.84;0.996;0.879	T	0.74556	-0.3626	10	0.87932	D	0	.	18.4476	0.90690	0.0:0.0:1.0:0.0	.	486;486;486;523;523;523;523;523;523;486	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	486;523;523;523;523;523;523;523;523;523;523;523;523;523	ENSP00000382290:E486K;ENSP00000370719:E523K;ENSP00000370691:E523K;ENSP00000370685:E523K;ENSP00000382301:E523K;ENSP00000382289:E523K;ENSP00000382292:E523K;ENSP00000382286:E523K;ENSP00000382275:E523K;ENSP00000387377:E523K;ENSP00000382265:E523K;ENSP00000369294:E523K	ENSP00000369294:E523K	E	+	1	0	ITSN1	34069253	1.000000	0.71417	0.939000	0.37840	0.934000	0.57294	9.694000	0.98686	2.356000	0.79943	0.591000	0.81541	GAA		0.368	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35153769	35153769	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35153769C>A	ENST00000381318.3	+	15	1889	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	ITSN1_ENST00000379960.5_Missense_Mutation_p.S534Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.S534Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.S534Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.S534Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.S534Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.S534Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.S534Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.S534Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.S534Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.S534Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.S497Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	534	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S534Y(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCCCAGGAATCTCAGCAAATG	0.388																																					p.S534Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1601A	21						.						113.0	111.0	112.0					21																	35153769		2203	4300	6503	34075639	SO:0001583	missense	6453	exon15			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1601C>A	21.37:g.35153769C>A	ENSP00000370719:p.Ser534Tyr		34075639	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.383016	0.25031	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.44482	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.02;2.48;2.48;0.92	5.33	5.33	0.75918	.	0.053438	0.85682	D	0.000000	T	0.28499	0.0705	N	0.00690	-1.25	0.53005	D	0.99996	D;D;P;P;D;P;D;D;D;D	0.71674	0.998;0.992;0.937;0.919;0.997;0.612;0.992;0.992;0.993;0.992	P;P;P;P;P;B;P;P;D;P	0.64042	0.901;0.901;0.585;0.709;0.868;0.226;0.858;0.858;0.921;0.901	T	0.40021	-0.9585	10	0.02654	T	1	.	19.3849	0.94553	0.0:1.0:0.0:0.0	.	497;497;497;534;534;534;534;534;534;497	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	497;534;534;534;534;534;534;534;534;534;534;534;534;534	ENSP00000382290:S497Y;ENSP00000370719:S534Y;ENSP00000370691:S534Y;ENSP00000370685:S534Y;ENSP00000382301:S534Y;ENSP00000382289:S534Y;ENSP00000382292:S534Y;ENSP00000382286:S534Y;ENSP00000382275:S534Y;ENSP00000387377:S534Y;ENSP00000382265:S534Y;ENSP00000369294:S534Y	ENSP00000369294:S534Y	S	+	2	0	ITSN1	34075639	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.615000	0.61190	2.632000	0.89209	0.557000	0.71058	TCT		0.388	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35154339	35154339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35154339G>T	ENST00000381318.3	+	16	2014	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	ITSN1_ENST00000379960.5_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399338.4_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.E576*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399352.1_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.E576*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.E576*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.E576*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.E539*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	576	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E576*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGAAGCAAAAGAACTAGCTCG	0.363																																					p.E576X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1726T	21						.						83.0	83.0	83.0					21																	35154339		2203	4300	6503	34076209	SO:0001587	stop_gained	6453	exon16			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1726G>T	21.37:g.35154339G>T	ENSP00000370719:p.Glu576*		34076209	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	42	9.404861	0.99161	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.83	5.83	0.93111	.	0.101968	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	.	.	.	X	539;576;576;576;576;576;576;576;576;576;576;576;576;576	.	ENSP00000369294:E576X	E	+	1	0	ITSN1	34076209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.639000	0.83342	2.759000	0.94783	0.650000	0.86243	GAA		0.363	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35208896	35208896	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35208896T>G	ENST00000381318.3	+	29	3909	c.3621T>G	c.(3619-3621)aaT>aaG	p.N1207K	ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399355.2_Missense_Mutation_p.N1136K|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381291.4_Missense_Mutation_p.N1207K|ITSN1_ENST00000399352.1_Missense_Mutation_p.N1202K|ITSN1_ENST00000399367.3_Missense_Mutation_p.N1202K|ITSN1_ENST00000381285.4_Missense_Mutation_p.N1207K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N1202K|ITSN1_ENST00000399349.1_Missense_Mutation_p.N1131K|ITSN1_ENST00000399353.1_Missense_Mutation_p.N1165K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1207	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N1207K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCCCATCCAATTATGTGAAGC	0.532																																					p.N1207K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3621G	21						.						113.0	102.0	106.0					21																	35208896		2203	4300	6503	34130766	SO:0001583	missense	6453	exon29			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3621T>G	21.37:g.35208896T>G	ENSP00000370719:p.Asn1207Lys		34130766	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870329	0.51588	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	4.37	-2.25	0.06888	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.82923	2.615	0.80722	D	1	D;D;P;D;D;D;D;D;D	0.89917	0.992;0.999;0.865;0.999;0.999;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D;D;D	0.91635	0.952;0.998;0.877;0.996;0.992;0.998;0.998;0.999;0.999	T	0.71199	-0.4663	10	0.87932	D	0	.	11.9827	0.53129	0.0:0.71:0.0:0.29	.	1099;1170;1094;1202;1136;1202;1207;1131;1165	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	K	1165;1207;1207;1207;1136;1202;1202;1136;1131;1202	ENSP00000382290:N1165K;ENSP00000370719:N1207K;ENSP00000370691:N1207K;ENSP00000370685:N1207K;ENSP00000382301:N1202K;ENSP00000382289:N1202K;ENSP00000382292:N1136K;ENSP00000382286:N1131K;ENSP00000387377:N1202K	ENSP00000370685:N1207K	N	+	3	2	ITSN1	34130766	0.976000	0.34144	0.989000	0.46669	0.994000	0.84299	0.214000	0.17541	-0.483000	0.06772	-0.276000	0.10085	AAT		0.532	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35230996	35230996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35230996C>A	ENST00000381318.3	+	31	4078	c.3790C>A	c.(3790-3792)Caa>Aaa	p.Q1264K	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1259K|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1264K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1259K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1264	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1264K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GTAGATTTTTCAAAAACCCCT	0.428																																					p.Q1264K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3790A	21						.						86.0	92.0	90.0					21																	35230996		2203	4300	6503	34152866	SO:0001583	missense	6453	exon31			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3790C>A	21.37:g.35230996C>A	ENSP00000370719:p.Gln1264Lys		34152866	NM_003024	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610578	0.66558	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.65	5.65	0.86999	Dbl homology (DH) domain (5);	0.064586	0.64402	D	0.000004	T	0.61776	0.2374	N	0.17674	0.51	0.80722	D	1	D;P;D	0.61697	0.99;0.932;0.969	P;B;P	0.53809	0.735;0.381;0.586	T	0.61128	-0.7125	10	0.36615	T	0.2	.	19.7274	0.96170	0.0:1.0:0.0:0.0	.	1259;1259;1264	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	K	1264;1264;1193;1259;1259	ENSP00000370719:Q1264K;ENSP00000370685:Q1264K;ENSP00000382301:Q1259K;ENSP00000387377:Q1259K	ENSP00000370685:Q1264K	Q	+	1	0	ITSN1	34152866	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.455000	0.80726	2.663000	0.90544	0.563000	0.77884	CAA		0.428	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
ITSN1	6453	broad.mit.edu	37	21	35260545	35260545	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:35260545G>A	ENST00000381318.3	+	40	5395	c.5107G>A	c.(5107-5109)Gaa>Aaa	p.E1703K	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1698K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1703K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1642K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1703					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1703K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTGCTGCACGAAGTCCCCAC	0.572																																					p.E1703K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5107A	21						.						80.0	69.0	73.0					21																	35260545		2203	4300	6503	34182415	SO:0001583	missense	6453	exon40			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.5107G>A	21.37:g.35260545G>A	ENSP00000370719:p.Glu1703Lys		34182415	NM_003024	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858220	0.97036	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80460	0.4627	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72625	0.978;0.954;0.954	T	0.81355	-0.0970	10	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	1642;1698;1703	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	K	1703;1703;1632;1698;1642	ENSP00000370719:E1703K;ENSP00000370685:E1703K;ENSP00000382301:E1698K;ENSP00000387377:E1642K	ENSP00000370685:E1703K	E	+	1	0	ITSN1	34182415	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.441000	0.97557	2.646000	0.89796	0.655000	0.94253	GAA		0.572	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
SETD4	54093	broad.mit.edu	37	21	37420633	37420633	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:37420633C>T	ENST00000399215.1	-	4	1641	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	SETD4_ENST00000399205.1_Missense_Mutation_p.R66Q|SETD4_ENST00000332131.4_Missense_Mutation_p.R90Q|SETD4_ENST00000399208.2_Missense_Mutation_p.R90Q|SETD4_ENST00000399207.1_Missense_Mutation_p.R90Q|SETD4_ENST00000399212.1_Missense_Mutation_p.R66Q|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399201.1_Missense_Mutation_p.R66Q			Q9NVD3	SETD4_HUMAN	SET domain containing 4	90	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)	p.R90Q(2)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TAAGTAGCTTCGAATCACTGT	0.463																																					p.R90Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G269A	21						.						386.0	318.0	341.0					21																	37420633		2203	4300	6503	36342503	SO:0001583	missense	54093	exon5			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.269G>A	21.37:g.37420633C>T	ENSP00000382163:p.Arg90Gln		36342503	NM_017438	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	5.507	0.278582	0.10403	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000446166;ENST00000442559	D;D;D;D;D;D;D;T;T;T;T	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;2.57;2.57;2.57;2.57	5.25	-0.836	0.10770	SET domain (1);	0.397866	0.27664	N	0.018362	T	0.59376	0.2189	N	0.12961	0.28	0.09310	N	1	B;B;B;B	0.21753	0.06;0.029;0.048;0.0	B;B;B;B	0.16289	0.015;0.004;0.009;0.002	T	0.43782	-0.9370	10	0.13108	T	0.6	8.0285	11.2508	0.49024	0.0:0.4034:0.0:0.5966	.	66;90;66;90	A8MTS1;C9JWV5;Q9NVD3-3;Q9NVD3	.;.;.;SETD4_HUMAN	Q	90;66;90;66;90;66;90;90;90;66;66	ENSP00000382163:R90Q;ENSP00000382161:R66Q;ENSP00000329189:R90Q;ENSP00000382156:R66Q;ENSP00000382159:R90Q;ENSP00000382152:R66Q;ENSP00000382158:R90Q;ENSP00000399998:R90Q;ENSP00000396837:R90Q;ENSP00000413318:R66Q;ENSP00000394822:R66Q	ENSP00000329189:R90Q	R	-	2	0	SETD4	36342503	0.000000	0.05858	0.057000	0.19452	0.487000	0.33371	-0.245000	0.08890	0.002000	0.14630	-1.012000	0.02466	CGA		0.463	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	
DOPEY2	9980	broad.mit.edu	37	21	37661103	37661103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:37661103C>A	ENST00000399151.3	+	34	6432	c.6347C>A	c.(6346-6348)tCa>tAa	p.S2116*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2116					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.S2116*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAAGATGAGTCATTGAGGTAA	0.343																																					p.S2116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6347A	21						.						84.0	78.0	80.0					21																	37661103		2203	4300	6503	36582973	SO:0001587	stop_gained	9980	exon34			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6347C>A	21.37:g.37661103C>A	ENSP00000382104:p.Ser2116*		36582973	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Nonsense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	47	13.736124	0.99760	.	.	ENSG00000142197	ENST00000399151	.	.	.	5.74	2.92	0.33932	.	0.698869	0.14367	N	0.324071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2736	9.7534	0.40490	0.0:0.6656:0.2635:0.071	.	.	.	.	X	2116	.	ENSP00000382104:S2116X	S	+	2	0	DOPEY2	36582973	0.003000	0.15002	0.001000	0.08648	0.909000	0.53808	1.644000	0.37228	0.342000	0.23796	0.655000	0.94253	TCA		0.343	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
MORC3	23515	broad.mit.edu	37	21	37705952	37705952	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:37705952G>A	ENST00000400485.1	+	2	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P	MORC3_ENST00000487909.1_Intron	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	16					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.P16P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGCTTTGCCCGAAGTTTTTAC	0.328																																					p.P16P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G48A	21						.						142.0	131.0	134.0					21																	37705952		1822	4086	5908	36627822	SO:0001819	synonymous_variant	23515	exon2			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.48G>A	21.37:g.37705952G>A			36627822	NM_015358	A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	CCDS42924.1																																																																																				0.328	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
MORC3	23515	broad.mit.edu	37	21	37716992	37716992	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:37716992G>A	ENST00000400485.1	+	7	948	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	291					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.R291Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GATGTTTATCGACCAAAATTT	0.388																																					p.R291Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872A	21						.						106.0	97.0	100.0					21																	37716992		1871	4107	5978	36638862	SO:0001583	missense	23515	exon7			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.872G>A	21.37:g.37716992G>A	ENSP00000383333:p.Arg291Gln		36638862	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182037	0.94885	.	.	ENSG00000159256	ENST00000400485	T	0.15718	2.4	5.49	5.49	0.81192	ATPase-like, ATP-binding domain (1);	0.052118	0.85682	D	0.000000	T	0.37544	0.1007	M	0.65677	2.01	0.46011	D	0.998812	D	0.89917	1.0	D	0.66351	0.943	T	0.08146	-1.0736	10	0.72032	D	0.01	-11.58	12.6853	0.56944	0.0753:0.0:0.9247:0.0	.	291	Q14149	MORC3_HUMAN	Q	291	ENSP00000383333:R291Q	ENSP00000383333:R291Q	R	+	2	0	MORC3	36638862	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	6.031000	0.70911	2.582000	0.87167	0.655000	0.94253	CGA		0.388	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
MORC3	23515	broad.mit.edu	37	21	37728940	37728940	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:37728940G>A	ENST00000400485.1	+	10	1202	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	376					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.E376K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGCACTAGGAGAAAAGCTGAA	0.254																																					p.E376K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	21						.						78.0	75.0	76.0					21																	37728940		1796	4050	5846	36650810	SO:0001583	missense	23515	exon10			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1126G>A	21.37:g.37728940G>A	ENSP00000383333:p.Glu376Lys		36650810	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012538	0.35511	.	.	ENSG00000159256	ENST00000400485	T	0.15718	2.4	5.92	5.92	0.95590	.	0.672641	0.16216	N	0.224279	T	0.17831	0.0428	L	0.36672	1.1	0.39286	D	0.964655	B	0.13145	0.007	B	0.10450	0.005	T	0.14392	-1.0474	10	0.18276	T	0.48	-5.9813	20.3151	0.98650	0.0:0.0:1.0:0.0	.	376	Q14149	MORC3_HUMAN	K	376	ENSP00000383333:E376K	ENSP00000383333:E376K	E	+	1	0	MORC3	36650810	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.175000	0.50855	2.809000	0.96659	0.467000	0.42956	GAA		0.254	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
HLCS	3141	broad.mit.edu	37	21	38302646	38302646	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38302646C>T	ENST00000399120.1	-	6	2314	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	HLCS_ENST00000336648.4_Missense_Mutation_p.E362K|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	362					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.E362K(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTAAGGACTTCGTATCTTCTA	0.458																																					p.E362K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1084A	21						.						95.0	91.0	93.0					21																	38302646		2203	4300	6503	37224516	SO:0001583	missense	3141	exon6				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1084G>A	21.37:g.38302646C>T	ENSP00000382071:p.Glu362Lys		37224516	NM_000411	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211684	0.39102	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98362	-4.89;-4.89	5.22	4.34	0.51931	.	0.158532	0.56097	D	0.000030	D	0.95815	0.8638	M	0.76574	2.34	0.45272	D	0.99827	P;P	0.44986	0.847;0.717	B;B	0.28553	0.091;0.075	D	0.94019	0.7291	10	0.33940	T	0.23	.	11.0911	0.48117	0.0:0.8482:0.0:0.1518	.	362;362	B2RAH1;P50747	.;BPL1_HUMAN	K	362	ENSP00000382071:E362K;ENSP00000338387:E362K	ENSP00000338387:E362K	E	-	1	0	HLCS	37224516	0.998000	0.40836	0.793000	0.32043	0.399000	0.30720	4.020000	0.57189	1.332000	0.45431	0.650000	0.86243	GAA		0.458	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		
TTC3	7267	broad.mit.edu	37	21	38494279	38494279	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38494279G>T	ENST00000399017.2	+	12	3810	c.1063G>T	c.(1063-1065)Ggt>Tgt	p.G355C	TTC3_ENST00000355666.1_Splice_Site_p.G355C|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Splice_Site_p.G45C|TTC3_ENST00000354749.2_Splice_Site_p.G355C	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	355					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G355C(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGACCTACAAGGTATTTCACC	0.363																																					p.G355C	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1063T	21						.						58.0	59.0	59.0					21																	38494279		2203	4300	6503	37416149	SO:0001630	splice_region_variant	7267	exon12			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1063+1G>T	21.37:g.38494279G>T			37416149	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183022	0.78677	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.57595	1.1;1.1;1.1;2.9;0.39;2.9;2.9	5.41	5.41	0.78517	.	0.119040	0.37178	N	0.002215	T	0.61664	0.2365	L	0.27053	0.805	0.47276	D	0.99937	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65240	-0.6216	10	0.72032	D	0.01	-16.0166	16.1082	0.81241	0.0:0.0:1.0:0.0	.	45;355	B4DSZ9;P53804	.;TTC3_HUMAN	C	355;355;337;355;45;355;355	ENSP00000403943:G355C;ENSP00000408456:G355C;ENSP00000391891:G337C;ENSP00000347889:G355C;ENSP00000442875:G45C;ENSP00000381981:G355C;ENSP00000346791:G355C	ENSP00000346791:G355C	G	+	1	0	TTC3	37416149	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.651000	0.74372	2.552000	0.86080	0.650000	0.86243	GGT		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		Missense_Mutation
TTC3	7267	broad.mit.edu	37	21	38507697	38507697	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38507697G>T	ENST00000399017.2	+	18	4208	c.1461G>T	c.(1459-1461)atG>atT	p.M487I	TTC3_ENST00000355666.1_Missense_Mutation_p.M487I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.M177I|TTC3_ENST00000354749.2_Missense_Mutation_p.M487I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	487					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M487I(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTAATATAATGAAAATGCTGA	0.368																																					p.M487I	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1461T	21						.						41.0	44.0	43.0					21																	38507697		2203	4300	6503	37429567	SO:0001583	missense	7267	exon18			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1461G>T	21.37:g.38507697G>T	ENSP00000381981:p.Met487Ile		37429567	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340030	0.41398	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.41400	2.82;1.0;2.82;3.16;1.01;3.16;3.16	5.49	4.37	0.52481	.	0.297392	0.28766	N	0.014212	T	0.21801	0.0525	N	0.19112	0.55	0.27240	N	0.959177	B;P	0.35844	0.001;0.524	B;B	0.31946	0.001;0.138	T	0.06807	-1.0806	10	0.34782	T	0.22	-21.0079	4.5614	0.12161	0.1327:0.0:0.5919:0.2754	.	177;487	B4DSZ9;P53804	.;TTC3_HUMAN	I	487;487;469;487;177;487;487	ENSP00000403943:M487I;ENSP00000408456:M487I;ENSP00000391891:M469I;ENSP00000347889:M487I;ENSP00000442875:M177I;ENSP00000381981:M487I;ENSP00000346791:M487I	ENSP00000346791:M487I	M	+	3	0	TTC3	37429567	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.973000	0.40550	2.728000	0.93425	0.655000	0.94253	ATG		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38537937	38537937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38537937G>T	ENST00000399017.2	+	33	6168	c.3421G>T	c.(3421-3423)Gaa>Taa	p.E1141*	TTC3_ENST00000355666.1_Nonsense_Mutation_p.E1141*|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Nonsense_Mutation_p.E1141*	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1141					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1141*(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTTCCCAGAAGAAACTCGACA	0.388																																					p.E1141X	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3421T	21						.						136.0	150.0	145.0					21																	38537937		2203	4300	6503	37459807	SO:0001587	stop_gained	7267	exon33			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3421G>T	21.37:g.38537937G>T	ENSP00000381981:p.Glu1141*		37459807	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Nonsense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.135671|8.135671	0.98670|0.98670	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.195065|.	0.35903|.	N|.	0.002918|.	.|T	.|0.71609	.|0.3360	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71090	.|-0.4693	.|4	0.87932|.	D|.	0|.	-26.0179|-26.0179	16.2538|16.2538	0.82501|0.82501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	1141;1123;1141;1141;1141|296	.|.	ENSP00000346791:E1141X|.	E|K	+|+	1|3	0|2	TTC3|TTC3	37459807|37459807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	7.387000|7.387000	0.79785|0.79785	2.352000|2.352000	0.79861|0.79861	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.388	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
DSCR3	10311	broad.mit.edu	37	21	38610883	38610883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38610883C>A	ENST00000309117.6	-	3	466	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000288304.5_Nonsense_Mutation_p.E35*|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Nonsense_Mutation_p.E77*|DSCR3_ENST00000398998.1_Nonsense_Mutation_p.E29*|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399000.3_5'UTR	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	77						nucleus (GO:0005634)		p.E77*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TTCACCATTTCTATGGTGCTG	0.408																																					p.E77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G229T	21						.						104.0	108.0	106.0					21																	38610883		2203	4300	6503	37532753	SO:0001587	stop_gained	10311	exon3			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.229G>T	21.37:g.38610883C>A	ENSP00000311399:p.Glu77*		37532753	NM_006052	B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Nonsense_Mutation	SNP	ENST00000309117.6	37	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	C	44	10.696723	0.99452	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	.	.	.	5.41	5.41	0.78517	.	0.049641	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-1.3018	19.5612	0.95373	0.0:1.0:0.0:0.0	.	.	.	.	X	77;35;77;29	.	ENSP00000288304:E35X	E	-	1	0	DSCR3	37532753	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.748000	0.68697	2.687000	0.91594	0.655000	0.94253	GAA		0.408	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1		
DYRK1A	1859	broad.mit.edu	37	21	38884507	38884507	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:38884507G>T	ENST00000398960.2	+	11	2040	c.1965G>T	c.(1963-1965)atG>atT	p.M655I	DYRK1A_ENST00000455387.2_Missense_Mutation_p.M427I|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.M646I	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	655					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.M655I(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCACTCCATGACATCCCTGT	0.517																																					p.M646I	Melanoma(114;464 1602 31203 43785 45765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1938T	21						.						164.0	141.0	149.0					21																	38884507		2203	4300	6503	37806377	SO:0001583	missense	1859	exon11			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1965G>T	21.37:g.38884507G>T	ENSP00000381932:p.Met655Ile		37806377	NM_130436	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839719	0.51057	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.55760	0.5;0.53;1.05	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14337	-1.0476	10	0.19147	T	0.46	.	14.9122	0.70767	0.0689:0.0:0.9311:0.0	.	655;646	Q13627;Q13627-2	DYR1A_HUMAN;.	I	646;655;427	ENSP00000340373:M646I;ENSP00000381932:M655I;ENSP00000407854:M427I	ENSP00000340373:M646I	M	+	3	0	DYRK1A	37806377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.357000	0.97099	1.433000	0.47394	-0.150000	0.13652	ATG		0.517	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
KCNJ6	3763	broad.mit.edu	37	21	39086848	39086848	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:39086848G>T	ENST00000609713.1	-	3	1201	c.612C>A	c.(610-612)gtC>gtA	p.V204V	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.V204V	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	204					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.V204V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGGTGGAAAAGACCAGGGTCT	0.493																																					p.V204V	Pancreas(48;379 1118 2936 19024 28214)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C612A	21						.						57.0	56.0	56.0					21																	39086848		1937	4167	6104	38008718	SO:0001819	synonymous_variant	3763	exon3			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.612C>A	21.37:g.39086848G>T			38008718	NM_002240	Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	CCDS42927.1																																																																																				0.493	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240	
KCNJ6	3763	broad.mit.edu	37	21	39087225	39087225	+	Missense_Mutation	SNP	C	C	T	rs143219969		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:39087225C>T	ENST00000609713.1	-	3	824	c.235G>A	c.(235-237)Gat>Aat	p.D79N	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.D79N	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	79					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)	p.D79N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTGAAGATATCGGTCAGGTAG	0.463																																					p.D79N	Pancreas(48;379 1118 2936 19024 28214)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G235A	21						.						221.0	208.0	212.0					21																	39087225		2006	4153	6159	38009095	SO:0001583	missense	3763	exon3			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.235G>A	21.37:g.39087225C>T	ENSP00000477437:p.Asp79Asn		38009095	NM_002240	Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030635	0.93575	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.97066	-4.23;-4.23	5.95	5.95	0.96441	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99218	1.0878	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	79	P48051	IRK6_HUMAN	N	79	ENSP00000383330:D79N;ENSP00000288309:D79N	ENSP00000288309:D79N	D	-	1	0	KCNJ6	38009095	1.000000	0.71417	0.939000	0.37840	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAT		0.463	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240	
DSCR4	10281	broad.mit.edu	37	21	39427068	39427068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:39427068C>A	ENST00000328264.3	-	3	342	c.238G>T	c.(238-240)Gag>Tag	p.E80*	DSCR4_ENST00000398948.1_Intron	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	80								p.E80*(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						TGCTGCCCCTCTCTGGTTCTG	0.428																																					p.E80X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G238T	21						.						152.0	138.0	143.0					21																	39427068		2203	4300	6503	38348938	SO:0001587	stop_gained	10281	exon3			AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.238G>T	21.37:g.39427068C>A	ENSP00000328676:p.Glu80*		38348938	NM_005867	Q4VB31	Nonsense_Mutation	SNP	ENST00000328264.3	37	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058594	0.36277	.	.	ENSG00000184029	ENST00000328264	.	.	.	3.89	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7018	0.17887	0.0:0.7393:0.0:0.2607	.	.	.	.	X	80	.	ENSP00000328676:E80X	E	-	1	0	DSCR4	38348938	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.383000	0.20651	0.540000	0.28808	0.563000	0.77884	GAG		0.428	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867	
KCNJ15	3772	broad.mit.edu	37	21	39672277	39672277	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:39672277T>G	ENST00000328656.4	+	4	1397	c.1094T>G	c.(1093-1095)cTg>cGg	p.L365R	KCNJ15_ENST00000398934.1_Missense_Mutation_p.L365R|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L365R|KCNJ15_ENST00000398930.1_Missense_Mutation_p.L365R|KCNJ15_ENST00000398932.1_Missense_Mutation_p.L365R	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	365					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L365R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GAAAGAGAACTGAGGACACTT	0.468																																					p.L365R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1094G	21						.						47.0	50.0	49.0					21																	39672277		2203	4300	6503	38594147	SO:0001583	missense	3772	exon3			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.1094T>G	21.37:g.39672277T>G	ENSP00000331698:p.Leu365Arg		38594147	NM_170736	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	T	3.749	-0.052068	0.07362	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.83	5.83	0.93111	.	0.396031	0.21811	N	0.068762	T	0.80808	0.4694	N	0.22421	0.69	0.33660	D	0.609612	B	0.06786	0.001	B	0.10450	0.005	T	0.79027	-0.1971	9	.	.	.	.	11.4501	0.50147	0.0:0.0:0.1501:0.8499	.	365	Q99712	IRK15_HUMAN	R	365	ENSP00000331698:L365R;ENSP00000381911:L365R;ENSP00000381905:L365R;ENSP00000381904:L365R;ENSP00000381907:L365R	.	L	+	2	0	KCNJ15	38594147	0.998000	0.40836	0.950000	0.38849	0.972000	0.66771	1.465000	0.35299	2.236000	0.73375	0.533000	0.62120	CTG		0.468	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243	
BRWD1	54014	broad.mit.edu	37	21	40559097	40559097	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40559097G>T	ENST00000333229.2	-	42	7145	c.6818C>A	c.(6817-6819)tCt>tAt	p.S2273Y	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2273					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S2273Y(1)|p.S2273C(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGCCGCAGCAGAAGCATTTCG	0.323																																					p.S2273Y	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C6818A	21						.						74.0	77.0	76.0					21																	40559097		2201	4297	6498	39480967	SO:0001583	missense	54014	exon42			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6818C>A	21.37:g.40559097G>T	ENSP00000330753:p.Ser2273Tyr		39480967	NM_018963	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864773	0.71949	.	.	ENSG00000185658	ENST00000333229	T	0.60171	0.21	5.12	5.12	0.69794	.	0.121502	0.37348	N	0.002123	T	0.65270	0.2675	L	0.58101	1.795	0.80722	D	1	P	0.51791	0.948	P	0.50791	0.65	T	0.69899	-0.5020	10	0.87932	D	0	-8.6834	17.1329	0.86730	0.0:0.0:1.0:0.0	.	2273	Q9NSI6	BRWD1_HUMAN	Y	2273	ENSP00000330753:S2273Y	ENSP00000330753:S2273Y	S	-	2	0	BRWD1	39480967	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.336000	0.52113	2.542000	0.85734	0.650000	0.86243	TCT		0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
BRWD1	54014	broad.mit.edu	37	21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40570895G>T	ENST00000333229.2	-	40	5774	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000342449.3_Missense_Mutation_p.T1816N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T1816N(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAA	0.388																																					p.T1816N	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5447A	21						.						121.0	123.0	122.0					21																	40570895		2203	4300	6503	39492765	SO:0001583	missense	54014	exon40			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5447C>A	21.37:g.40570895G>T	ENSP00000330753:p.Thr1816Asn		39492765	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966851	0.34659	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.54071	0.59;0.61;0.69	5.48	5.48	0.80851	.	0.374434	0.25820	N	0.028090	T	0.45357	0.1338	L	0.29908	0.895	0.80722	D	1	P;B	0.34757	0.467;0.072	B;B	0.34652	0.187;0.032	T	0.49254	-0.8959	10	0.66056	D	0.02	-3.482	17.5514	0.87876	0.0:0.0:1.0:0.0	.	1816;1816	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	N	1816	ENSP00000330753:T1816N;ENSP00000344333:T1816N;ENSP00000370178:T1816N	ENSP00000330753:T1816N	T	-	2	0	BRWD1	39492765	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.508000	0.53378	2.576000	0.86940	0.655000	0.94253	ACC		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
BRWD1	54014	broad.mit.edu	37	21	40587276	40587276	+	Silent	SNP	C	C	T	rs148823718		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40587276C>T	ENST00000333229.2	-	32	3999	c.3672G>A	c.(3670-3672)gcG>gcA	p.A1224A	BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Silent_p.A1224A|BRWD1_ENST00000342449.3_Silent_p.A1224A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1224	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A1224A(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCCAAACTAACGCAGACAGCC	0.348																																					p.A1224A	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3672A	21						.	C	,	0,4406		0,0,2203	114.0	104.0	107.0		3672,3672	-6.4	1.0	21	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	BRWD1	NM_018963.4,NM_033656.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1224/2321,1224/2270	40587276	1,13005	2203	4300	6503	39509146	SO:0001819	synonymous_variant	54014	exon32			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3672G>A	21.37:g.40587276C>T			39509146	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169045	0.38315	0.0	1.16E-4	ENSG00000185658	ENST00000424441	.	.	.	5.55	-6.45	0.01914	.	.	.	.	.	T	0.38746	0.1052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46857	-0.9161	4	.	.	.	.	3.838	0.08902	0.0825:0.1851:0.1614:0.5709	.	.	.	.	I	210	.	.	V	-	1	0	BRWD1	39509146	0.752000	0.28338	0.989000	0.46669	0.960000	0.62799	-0.193000	0.09573	-0.497000	0.06641	-1.417000	0.01113	GTT		0.348	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
LCA5L	150082	broad.mit.edu	37	21	40778280	40778280	+	Missense_Mutation	SNP	G	G	A	rs147712761	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40778280G>A	ENST00000358268.2	-	10	2069	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000380671.2_Missense_Mutation_p.T514M|LCA5L_ENST00000288350.3_Missense_Mutation_p.T514M|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	514								p.T514M(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GGGGCCTTTCGTGTAGGGAGC	0.478																																					p.T514M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1541T	21						.	G	MET/THR	0,4406		0,0,2203	117.0	96.0	103.0		1541	-7.8	0.0	21	dbSNP_134	103	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LCA5L	NM_152505.3	81	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	514/671	40778280	4,13002	2203	4300	6503	39700150	SO:0001583	missense	150082	exon10			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1541C>T	21.37:g.40778280G>A	ENSP00000351008:p.Thr514Met		39700150	NM_152505	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721846	0.30503	0.0	4.65E-4	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.55588	0.51;0.51;0.51	3.9	-7.8	0.01214	.	3.687670	0.00919	N	0.002568	T	0.33177	0.0854	L	0.29908	0.895	0.09310	N	1	P	0.45768	0.866	B	0.39185	0.293	T	0.48387	-0.9040	10	0.48119	T	0.1	9.9576	3.7432	0.08539	0.2114:0.2418:0.4499:0.0969	.	514	O95447	LCA5L_HUMAN	M	514	ENSP00000288350:T514M;ENSP00000370046:T514M;ENSP00000351008:T514M	ENSP00000288350:T514M	T	-	2	0	LCA5L	39700150	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.496000	0.06436	-1.076000	0.03125	-0.258000	0.10820	ACG		0.478	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
LCA5L	150082	broad.mit.edu	37	21	40783686	40783686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40783686G>A	ENST00000358268.2	-	7	1546	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	LCA5L_ENST00000495240.1_5'Flank|LCA5L_ENST00000380671.2_Nonsense_Mutation_p.R340*|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.R340*|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	340								p.R340*(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTAAGTATTCGATGACTATAG	0.294																																					p.R340X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1018T	21						.						70.0	71.0	71.0					21																	40783686		2201	4291	6492	39705556	SO:0001587	stop_gained	150082	exon7			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1018C>T	21.37:g.40783686G>A	ENSP00000351008:p.Arg340*		39705556	NM_152505	D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	G	39	7.895382	0.98548	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	5.52	3.66	0.41972	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8473	12.1077	0.53821	0.0:0.0:0.688:0.312	.	.	.	.	X	340	.	ENSP00000288350:R340X	R	-	1	2	LCA5L	39705556	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	3.043000	0.49823	0.668000	0.31126	0.650000	0.86243	CGA		0.294	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
LCA5L	150082	broad.mit.edu	37	21	40795153	40795153	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40795153G>T	ENST00000358268.2	-	5	1114	c.586C>A	c.(586-588)Cta>Ata	p.L196I	LCA5L_ENST00000380671.2_Missense_Mutation_p.L196I|LCA5L_ENST00000485895.2_Missense_Mutation_p.L196I|LCA5L_ENST00000288350.3_Missense_Mutation_p.L196I			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	196								p.L196I(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ATTTGAGGTAGATTATTTTGT	0.318																																					p.L196I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C586A	21						.						94.0	89.0	91.0					21																	40795153		2203	4299	6502	39717023	SO:0001583	missense	150082	exon5			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.586C>A	21.37:g.40795153G>T	ENSP00000351008:p.Leu196Ile		39717023	NM_152505	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057284	0.55325	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	D;D;D	0.83673	-1.75;-1.75;-1.75	4.95	1.54	0.23209	.	0.216608	0.32769	N	0.005673	T	0.76335	0.3973	L	0.38953	1.18	0.31051	N	0.715192	D	0.60575	0.988	P	0.53224	0.721	T	0.71262	-0.4645	10	0.28530	T	0.3	-6.9345	2.6427	0.04975	0.2392:0.1326:0.4931:0.135	.	196	O95447	LCA5L_HUMAN	I	196	ENSP00000288350:L196I;ENSP00000370046:L196I;ENSP00000351008:L196I	ENSP00000288350:L196I	L	-	1	2	LCA5L	39717023	0.161000	0.22892	0.991000	0.47740	0.972000	0.66771	0.462000	0.21956	0.576000	0.29452	0.655000	0.94253	CTA		0.318	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505	
SH3BGR	6450	broad.mit.edu	37	21	40847088	40847088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:40847088G>T	ENST00000333634.4	+	3	526	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	SH3BGR_ENST00000380631.1_Nonsense_Mutation_p.E39*|SH3BGR_ENST00000458295.1_Nonsense_Mutation_p.E39*|SH3BGR_ENST00000380634.1_Nonsense_Mutation_p.E39*|SH3BGR_ENST00000380637.3_Nonsense_Mutation_p.E39*	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	150					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.E150*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CTCTGCAAAAGAAGAGAATAT	0.358																																					p.E150X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G448T	21						.						108.0	103.0	104.0					21																	40847088		2203	4300	6503	39768958	SO:0001587	stop_gained	6450	exon3				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.448G>T	21.37:g.40847088G>T	ENSP00000332513:p.Glu150*		39768958	NM_007341	A6ND59|D3DSI2|Q9BRB8	Nonsense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.988325|6.988325	0.97983|0.97983	.|.	.|.	ENSG00000185437|ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000440288;ENST00000380631;ENST00000333634|ENST00000452550	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.088452|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72020	.|0.3409	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72779	.|-0.4190	.|3	0.87932|.	D|.	0|.	.|.	16.3563|16.3563	0.83236|0.83236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	39;39;39;39;39;150|78	.|.	ENSP00000332513:E150X|.	E|R	+|+	1|2	0|0	SH3BGR|SH3BGR	39768958|39768958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.970000|4.970000	0.63742|0.63742	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.358	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341	
B3GALT5	10317	broad.mit.edu	37	21	41032830	41032830	+	Missense_Mutation	SNP	G	G	A	rs371497510		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41032830G>A	ENST00000380620.4	+	5	936	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	B3GALT5_ENST00000398714.2_Missense_Mutation_p.R115Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R115Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R115Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	115					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R115Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GAGAGCCAGCGACACGGGGAC	0.517																																					p.R115Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G344A	21						.						83.0	85.0	84.0					21																	41032830		2203	4300	6503	39954700	SO:0001583	missense	10317	exon4			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.344G>A	21.37:g.41032830G>A	ENSP00000369994:p.Arg115Gln		39954700	NM_033171	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708108	0.15239	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.72	-5.23	0.02798	.	1.444890	0.04540	N	0.388012	T	0.14743	0.0356	N	0.03084	-0.415	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.16630	-1.0396	10	0.08837	T	0.75	.	3.749	0.08559	0.2505:0.1045:0.4404:0.2046	.	115	Q9Y2C3	B3GT5_HUMAN	Q	115	ENSP00000369994:R115Q;ENSP00000369992:R115Q;ENSP00000343318:R115Q;ENSP00000381699:R115Q	ENSP00000343318:R115Q	R	+	2	0	B3GALT5	39954700	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-0.767000	0.04633	-0.181000	0.13052	CGA		0.517	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
B3GALT5	10317	broad.mit.edu	37	21	41033164	41033164	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41033164G>A	ENST00000380620.4	+	5	1270	c.678G>A	c.(676-678)gcG>gcA	p.A226A	B3GALT5_ENST00000398714.2_Silent_p.A226A|B3GALT5_ENST00000380618.1_Silent_p.A226A|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.A226A			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	226					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A226A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCGACGTGGCGAGTCAGGTGT	0.522																																					p.A226A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G678A	21						.						86.0	86.0	86.0					21																	41033164		2203	4300	6503	39955034	SO:0001819	synonymous_variant	10317	exon4			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.678G>A	21.37:g.41033164G>A			39955034	NM_033171	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	CCDS13667.1																																																																																				0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
B3GALT5	10317	broad.mit.edu	37	21	41033348	41033348	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41033348A>G	ENST00000380620.4	+	5	1454	c.862A>G	c.(862-864)Aag>Gag	p.K288E	B3GALT5_ENST00000398714.2_Missense_Mutation_p.K288E|B3GALT5_ENST00000380618.1_Missense_Mutation_p.K288E|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.K288E			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	288					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.K288E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CCACTTCATCAAGCCTCGGAC	0.582																																					p.K288E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A862G	21						.						56.0	56.0	56.0					21																	41033348		2203	4299	6502	39955218	SO:0001583	missense	10317	exon4			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.862A>G	21.37:g.41033348A>G	ENSP00000369994:p.Lys288Glu		39955218	NM_033171	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324352	0.41197	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.51	1.82	0.25136	.	0.191405	0.34628	N	0.003805	T	0.28797	0.0714	M	0.65320	2	0.32986	D	0.524349	B	0.27380	0.177	B	0.25405	0.06	T	0.29274	-1.0017	10	0.18710	T	0.47	.	6.4848	0.22083	0.7143:0.1445:0.1412:0.0	.	288	Q9Y2C3	B3GT5_HUMAN	E	288	ENSP00000369994:K288E;ENSP00000369992:K288E;ENSP00000343318:K288E;ENSP00000381699:K288E	ENSP00000343318:K288E	K	+	1	0	B3GALT5	39955218	0.002000	0.14202	0.002000	0.10522	0.010000	0.07245	1.363000	0.34159	0.062000	0.16340	0.459000	0.35465	AAG		0.582	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170	
IGSF5	150084	broad.mit.edu	37	21	41137531	41137531	+	Missense_Mutation	SNP	G	G	A	rs372378189		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41137531G>A	ENST00000380588.4	+	3	273	c.170G>A	c.(169-171)cGc>cAc	p.R57H	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	57	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R57H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCCCAGGCTCGCTTCAACTGC	0.527																																					p.R57H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	21						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	66.0		170	2.2	1.0	21		66	0,8600		0,0,4300	no	missense	IGSF5	NM_001080444.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	57/408	41137531	1,13005	2203	4300	6503	40059401	SO:0001583	missense	150084	exon3				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.170G>A	21.37:g.41137531G>A	ENSP00000369962:p.Arg57His		40059401	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693871	0.30052	2.27E-4	0.0	ENSG00000183067	ENST00000380588	T	0.28069	1.63	4.05	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.290921	0.33631	N	0.004711	T	0.20210	0.0486	L	0.36672	1.1	0.32231	N	0.573921	P	0.39665	0.682	B	0.35312	0.2	T	0.19516	-1.0303	10	0.33940	T	0.23	-12.2058	9.2585	0.37597	0.1767:0.0:0.8233:0.0	.	57	Q9NSI5	IGSF5_HUMAN	H	57	ENSP00000369962:R57H	ENSP00000369962:R57H	R	+	2	0	IGSF5	40059401	0.998000	0.40836	0.999000	0.59377	0.533000	0.34776	1.174000	0.31932	0.430000	0.26230	-0.142000	0.14014	CGC		0.527	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
IGSF5	150084	broad.mit.edu	37	21	41151230	41151230	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41151230G>T	ENST00000380588.4	+	5	1035	c.932G>T	c.(931-933)aGa>aTa	p.R311I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	311					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R311I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AGAAGAAAAAGAGGTAATTTT	0.413																																					p.R311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932T	21						.						59.0	53.0	55.0					21																	41151230		2203	4300	6503	40073100	SO:0001583	missense	150084	exon5				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.932G>T	21.37:g.41151230G>T	ENSP00000369962:p.Arg311Ile		40073100	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	5.532	0.283067	0.10458	.	.	ENSG00000183067	ENST00000380588	T	0.06371	3.31	4.24	1.88	0.25563	.	0.552019	0.20487	N	0.091372	T	0.02688	0.0081	N	0.08118	0	0.38994	D	0.959216	B	0.30361	0.277	B	0.25405	0.06	T	0.52139	-0.8615	10	0.42905	T	0.14	-8.0378	3.9995	0.09574	0.6732:0.214:0.1128:0.0	.	311	Q9NSI5	IGSF5_HUMAN	I	311	ENSP00000369962:R311I	ENSP00000369962:R311I	R	+	2	0	IGSF5	40073100	0.998000	0.40836	0.598000	0.28837	0.014000	0.08584	1.160000	0.31761	0.408000	0.25621	-0.302000	0.09304	AGA		0.413	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
DSCAM	1826	broad.mit.edu	37	21	41385275	41385275	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41385275A>C	ENST00000400454.1	-	33	6202	c.5725T>G	c.(5725-5727)Ttt>Gtt	p.F1909V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1909				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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.F1909V(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)				TTTAACAAAAAGTCCATTCTA	0.502																																					p.F1909V	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5725G	21						.						47.0	47.0	47.0					21																	41385275		1979	4144	6123	40307145	SO:0001583	missense	1826	exon33			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.5725T>G	21.37:g.41385275A>C	ENSP00000383303:p.Phe1909Val		40307145	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	15.28	2.787378	0.49997	.	.	ENSG00000171587	ENST00000400454	T	0.58210	0.35	5.39	5.39	0.77823	.	0.103096	0.64402	D	0.000002	T	0.59155	0.2173	L	0.27053	0.805	0.48511	D	0.999663	D	0.57899	0.981	D	0.67900	0.954	T	0.58880	-0.7558	10	0.37606	T	0.19	.	15.4428	0.75200	1.0:0.0:0.0:0.0	.	1909	O60469	DSCAM_HUMAN	V	1909	ENSP00000383303:F1909V	ENSP00000383303:F1909V	F	-	1	0	DSCAM	40307145	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.721000	0.91446	2.044000	0.60594	0.460000	0.39030	TTT		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41447046	41447046	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41447046G>A	ENST00000400454.1	-	27	5283	c.4806C>T	c.(4804-4806)atC>atT	p.I1602I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1602					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.I1602I(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)				CCCCCACCAGGATACAGGAGA	0.567																																					p.I1602I	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4806T	21						.						109.0	123.0	118.0					21																	41447046		2100	4221	6321	40368916	SO:0001819	synonymous_variant	1826	exon27			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.4806C>T	21.37:g.41447046G>A			40368916	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.567	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41450636	41450636	+	Silent	SNP	G	G	A	rs201376842		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41450636G>A	ENST00000400454.1	-	26	5166	c.4689C>T	c.(4687-4689)ttC>ttT	p.F1563F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1563	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.F1563F(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)				TCAGCGTAGCGAAGTTGGCCT	0.592																																					p.F1563F	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4689T	21						.						81.0	85.0	83.0					21																	41450636		2190	4288	6478	40372506	SO:0001819	synonymous_variant	1826	exon26			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.4689C>T	21.37:g.41450636G>A			40372506	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41457622	41457622	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41457622G>A	ENST00000400454.1	-	23	4516	c.4039C>T	c.(4039-4041)Cgc>Tgc	p.R1347C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1347	Ig-like C2-type 10.				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.R1347C(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)				TTCACCGTGCGAATAATGAAG	0.438																																					p.R1347C	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4039T	21						.						103.0	99.0	101.0					21																	41457622		1904	4131	6035	40379492	SO:0001583	missense	1826	exon23			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.4039C>T	21.37:g.41457622G>A	ENSP00000383303:p.Arg1347Cys		40379492	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542721	0.85917	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.68479	-0.33;-0.33	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058746	0.64402	D	0.000003	T	0.78892	0.4355	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.63793	0.918	T	0.80901	-0.1175	10	0.72032	D	0.01	.	15.573	0.76354	0.0:0.0:0.8618:0.1382	.	1347	O60469	DSCAM_HUMAN	C	1347;1099	ENSP00000383303:R1347C;ENSP00000385342:R1099C	ENSP00000383303:R1347C	R	-	1	0	DSCAM	40379492	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.730000	0.84881	2.523000	0.85059	0.655000	0.94253	CGC		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
DSCAM	1826	broad.mit.edu	37	21	41561162	41561162	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:41561162G>T	ENST00000400454.1	-	12	2837	c.2360C>A	c.(2359-2361)cCt>cAt	p.P787H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	787	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P787H(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)				TATCATCGCAGGAACTGAAAA	0.473																																					p.P787H	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2360A	21						.						68.0	66.0	67.0					21																	41561162		1940	4135	6075	40483032	SO:0001583	missense	1826	exon12			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2360C>A	21.37:g.41561162G>T	ENSP00000383303:p.Pro787His		40483032	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164677	0.57476	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.52295	0.67;0.67	5.28	5.28	0.74379	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059233	0.64402	D	0.000001	T	0.70081	0.3183	M	0.89163	3.01	0.58432	D	0.999999	D	0.65815	0.995	P	0.55667	0.781	T	0.77819	-0.2446	10	0.87932	D	0	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	787	O60469	DSCAM_HUMAN	H	787;539	ENSP00000383303:P787H;ENSP00000385342:P539H	ENSP00000383303:P787H	P	-	2	0	DSCAM	40483032	1.000000	0.71417	0.988000	0.46212	0.037000	0.13140	9.704000	0.98716	2.441000	0.82636	0.561000	0.74099	CCT		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
MX2	4600	broad.mit.edu	37	21	42778810	42778810	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:42778810T>G	ENST00000330714.3	+	13	1974	c.1790T>G	c.(1789-1791)tTt>tGt	p.F597C		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	597					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F597C(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAAGAGATTTTTAACCCTCTG	0.413																																					p.F597C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1790G	21						.						126.0	124.0	125.0					21																	42778810		2203	4300	6503	41700680	SO:0001583	missense	4600	exon13				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1790T>G	21.37:g.42778810T>G	ENSP00000333657:p.Phe597Cys		41700680	NM_002463	B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746245	0.30955	.	.	ENSG00000183486	ENST00000330714;ENST00000398632	D	0.89810	-2.57	3.11	-3.14	0.05250	.	1.316200	0.06722	U	0.775121	D	0.83257	0.5215	N	0.14661	0.345	0.09310	N	1	P	0.52170	0.951	P	0.59115	0.852	T	0.71580	-0.4550	10	0.44086	T	0.13	.	0.3606	0.00363	0.1887:0.2525:0.1926:0.3662	.	597	P20592	MX2_HUMAN	C	597;71	ENSP00000333657:F597C	ENSP00000333657:F597C	F	+	2	0	MX2	41700680	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.068000	0.11561	-0.612000	0.05701	0.477000	0.44152	TTT		0.413	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	
TMPRSS2	7113	broad.mit.edu	37	21	42852441	42852441	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:42852441C>A	ENST00000332149.5	-	6	668	c.534G>T	c.(532-534)gaG>gaT	p.E178D	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.E215D|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.E178D	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	178	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E178D(2)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCGTAGTTCTCGTTCCAGT	0.572			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																p.E215D			Dom	yes		21	21q22.3	7113	"""transmembrane protease, serine 2"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G645T	21						.						61.0	55.0	57.0					21																	42852441		2203	4300	6503	41774311	SO:0001583	missense	7113	exon6			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.534G>T	21.37:g.42852441C>A	ENSP00000330330:p.Glu178Asp		41774311	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.637259	0.00799	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.12	-5.23	0.02798	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.259165	0.31542	N	0.007477	T	0.12178	0.0296	N	0.01771	-0.73	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.34551	-0.9824	10	0.02654	T	1	.	6.395	0.21607	0.1572:0.2134:0.5431:0.0862	.	215;178	F8WES1;O15393	.;TMPS2_HUMAN	D	178;215;178;178;138	ENSP00000330330:E178D;ENSP00000381588:E215D;ENSP00000391216:E178D;ENSP00000389006:E178D;ENSP00000397846:E138D	ENSP00000330330:E178D	E	-	3	2	TMPRSS2	41774311	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.420000	0.07062	-0.746000	0.04766	0.561000	0.74099	GAG		0.572	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1		
UMODL1	89766	broad.mit.edu	37	21	43522304	43522304	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43522304G>T	ENST00000408910.2	+	8	1215	c.1215G>T	c.(1213-1215)aaG>aaT	p.K405N	C21orf128_ENST00000329015.2_3'UTR|UMODL1_ENST00000400424.2_Missense_Mutation_p.K333N|UMODL1_ENST00000408989.2_Missense_Mutation_p.K405N|UMODL1_ENST00000400427.1_Missense_Mutation_p.K333N	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	405	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.K333N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCACAATAAAGATTGTAAACC	0.428																																					p.K333N	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G999T	21						.						94.0	93.0	94.0					21																	43522304		1902	4111	6013	42395373	SO:0001583	missense	89766	exon8				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1215G>T	21.37:g.43522304G>T	ENSP00000386147:p.Lys405Asn		42395373	NM_001199527	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.596153	0.28445	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	3.99	3.99	0.46301	SEA (1);	0.121858	0.35677	N	0.003044	T	0.42086	0.1187	L	0.40543	1.245	0.80722	D	1	B;B;B	0.26120	0.142;0.039;0.048	B;B;B	0.38020	0.135;0.12;0.263	T	0.49513	-0.8932	10	0.87932	D	0	-17.1138	13.8624	0.63569	0.0:0.0:1.0:0.0	.	333;405;405	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	N	333;333;405;405	ENSP00000383279:K333N;ENSP00000383276:K333N;ENSP00000386126:K405N;ENSP00000386147:K405N	ENSP00000383276:K333N	K	+	3	2	UMODL1	42395373	0.998000	0.40836	0.257000	0.24404	0.222000	0.24845	1.199000	0.32235	2.173000	0.68751	0.655000	0.94253	AAG		0.428	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
ABCG1	9619	broad.mit.edu	37	21	43714699	43714699	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43714699C>A	ENST00000361802.2	+	14	1882	c.1737C>A	c.(1735-1737)ttC>ttA	p.F579L	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Missense_Mutation_p.F564L|ABCG1_ENST00000398449.3_Missense_Mutation_p.F567L|ABCG1_ENST00000340588.4_Missense_Mutation_p.F687L|ABCG1_ENST00000398457.2_Missense_Mutation_p.F569L|ABCG1_ENST00000343687.3_Missense_Mutation_p.F578L|ABCG1_ENST00000398437.1_Missense_Mutation_p.F725L	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	579	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.F569L(1)|p.F579L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGCTCCTGTTCTCGGGGTTCT	0.617																																					p.F564L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1692A	21						.						140.0	110.0	120.0					21																	43714699		2203	4300	6503	42587768	SO:0001583	missense	9619	exon14			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1737C>A	21.37:g.43714699C>A	ENSP00000354995:p.Phe579Leu		42587768	NM_207629	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.77|15.77	2.932966|2.932966	0.52866|0.52866	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119	T;T;T;T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44|.	4.55|4.55	3.67|3.67	0.42095|0.42095	ABC-2 type transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60011|0.60011	0.2236|0.2236	L|L	0.58428|0.58428	1.81|1.81	0.58432|0.58432	D|D	0.999994|0.999994	P;P;D;B;B;D|.	0.56035|.	0.546;0.713;0.97;0.163;0.349;0.974|.	P;P;P;B;B;D|.	0.70487|.	0.464;0.479;0.859;0.17;0.331;0.969|.	T|T	0.56619|0.56619	-0.7949|-0.7949	9|5	.|.	.|.	.|.	-38.7267|-38.7267	8.7425|8.7425	0.34567|0.34567	0.0:0.7581:0.0:0.2419|0.0:0.7581:0.0:0.2419	.|.	590;578;579;567;564;569|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	L|I	569;564;567;579;578;725;687|315;303	ENSP00000381475:F569L;ENSP00000291524:F564L;ENSP00000381467:F567L;ENSP00000354995:F579L;ENSP00000339744:F578L;ENSP00000381464:F725L;ENSP00000343820:F687L|.	.|.	F|L	+|+	3|1	2|0	ABCG1|ABCG1	42587768|42587768	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.696000|0.696000	0.40369|0.40369	2.429000|2.429000	0.44758|0.44758	1.039000|1.039000	0.40074|0.40074	0.484000|0.484000	0.47621|0.47621	TTC|CTC		0.617	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000398437.1_Silent_p.F752F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587																																					p.F591F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C1773T	21						.						110.0	90.0	97.0					21																	43716283		2203	4300	6503	42589352	SO:0001819	synonymous_variant	9619	exon15			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1818C>T	21.37:g.43716283C>T			42589352	NM_207629	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	CCDS13682.1																																																																																				0.587	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174	
UBASH3A	53347	broad.mit.edu	37	21	43836697	43836697	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43836697G>T	ENST00000319294.6	+	6	845	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	UBASH3A_ENST00000398367.1_Missense_Mutation_p.D234Y|UBASH3A_ENST00000291535.6_Missense_Mutation_p.D234Y|RNU6-1149P_ENST00000516810.1_RNA	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	272					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.D272Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTACTCCCGAGACATGCGCTT	0.617																																					p.D234Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700T	21						.						32.0	30.0	31.0					21																	43836697		2203	4300	6503	42709766	SO:0001583	missense	53347	exon5			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.814G>T	21.37:g.43836697G>T	ENSP00000317327:p.Asp272Tyr		42709766	NM_001001895	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703397	0.88924	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.17528	2.46;2.38;2.27	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000017	T	0.46870	0.1415	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52895	-0.8514	10	0.87932	D	0	-50.2448	18.4014	0.90518	0.0:0.0:1.0:0.0	.	234;234;272	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	Y	234;272;234	ENSP00000291535:D234Y;ENSP00000317327:D272Y;ENSP00000381408:D234Y	ENSP00000291535:D234Y	D	+	1	0	UBASH3A	42709766	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.201000	0.95017	2.336000	0.79503	0.591000	0.81541	GAC		0.617	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
UBASH3A	53347	broad.mit.edu	37	21	43864744	43864744	+	Silent	SNP	C	C	T	rs61735848		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43864744C>T	ENST00000319294.6	+	14	1870	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Silent_p.L575L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	613	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L613L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTGCCCAACTCGTGAGAAAGG	0.557																																					p.L575L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1725T	21						.						74.0	79.0	77.0					21																	43864744		2203	4300	6503	42737813	SO:0001819	synonymous_variant	53347	exon13			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1839C>T	21.37:g.43864744C>T			42737813	NM_001001895	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	CCDS13687.1																																																																																				0.557	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
RSPH1	89765	broad.mit.edu	37	21	43913086	43913086	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:43913086C>A	ENST00000291536.3	-	2	325	c.158G>T	c.(157-159)aGa>aTa	p.R53I	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	53					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R53I(1)		large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTGGCCATGTCTTTTACCGAA	0.488																																					p.R53I	Esophageal Squamous(23;63 706 6286 10288 12913)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158T	21						.						245.0	211.0	222.0					21																	43913086		2203	4300	6503	42786155	SO:0001583	missense	89765	exon2			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.158G>T	21.37:g.43913086C>A	ENSP00000291536:p.Arg53Ile		42786155	NM_080860	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	ENST00000291536.3	37	CCDS13688.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767810	0.90020	.	.	ENSG00000160188	ENST00000291536	T	0.59083	0.29	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	L	0.49455	1.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66122	-0.6002	10	0.23891	T	0.37	.	17.868	0.88801	0.0:1.0:0.0:0.0	.	53	Q8WYR4	RSPH1_HUMAN	I	53	ENSP00000291536:R53I	ENSP00000291536:R53I	R	-	2	0	RSPH1	42786155	0.999000	0.42202	0.953000	0.39169	0.912000	0.54170	6.691000	0.74573	2.284000	0.76573	0.462000	0.41574	AGA		0.488	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1		
PDE9A	5152	broad.mit.edu	37	21	44180989	44180989	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:44180989G>A	ENST00000291539.6	+	13	1117	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	PDE9A_ENST00000328862.6_Missense_Mutation_p.D327N|PDE9A_ENST00000349112.3_Missense_Mutation_p.D225N|PDE9A_ENST00000335512.4_Missense_Mutation_p.D293N|PDE9A_ENST00000398232.3_Missense_Mutation_p.D286N|PDE9A_ENST00000398225.3_Missense_Mutation_p.D312N|PDE9A_ENST00000539837.1_Missense_Mutation_p.D225N|PDE9A_ENST00000398229.3_Missense_Mutation_p.D219N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.D267N|PDE9A_ENST00000398227.3_Missense_Mutation_p.D193N|PDE9A_ENST00000398234.3_Missense_Mutation_p.D252N|PDE9A_ENST00000335440.6_Missense_Mutation_p.D251N|PDE9A_ENST00000380328.2_Missense_Mutation_p.D300N|PDE9A_ENST00000398224.3_Missense_Mutation_p.D226N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	353	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.D353N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CATCTGCCACGATCTGGACCA	0.493																																					p.D267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	21						.						131.0	110.0	117.0					21																	44180989		2203	4300	6503	43054058	SO:0001583	missense	5152	exon11			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1057G>A	21.37:g.44180989G>A	ENSP00000291539:p.Asp353Asn		43054058	NM_001001574	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166043	0.94768	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.15	5.15	0.70609	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99609	4.655	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998;0.997;0.997;0.998;0.953;0.998;0.998;0.998;0.996;0.998;0.998;0.99	D	0.99797	1.1034	10	0.87932	D	0	.	18.6364	0.91380	0.0:0.0:1.0:0.0	.	225;286;267;252;327;312;245;293;136;193;219;225;251;300;226;353	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	N	293;225;353;300;286;252;267;327;251;312;219;193;225;226	ENSP00000335242:D293N;ENSP00000441899:D225N;ENSP00000291539:D353N;ENSP00000369685:D300N;ENSP00000381287:D286N;ENSP00000381289:D252N;ENSP00000381291:D267N;ENSP00000328699:D327N;ENSP00000335365:D251N;ENSP00000381281:D312N;ENSP00000381285:D219N;ENSP00000381283:D193N;ENSP00000344730:D225N;ENSP00000381280:D226N	ENSP00000291539:D353N	D	+	1	0	PDE9A	43054058	1.000000	0.71417	0.621000	0.29145	0.894000	0.52154	8.887000	0.92456	2.382000	0.81193	0.655000	0.94253	GAT		0.493	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		
WDR4	10785	broad.mit.edu	37	21	44293684	44293684	+	Silent	SNP	T	T	C	rs565775371		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:44293684T>C	ENST00000398208.2	-	3	332	c.273A>G	c.(271-273)aaA>aaG	p.K91K	WDR4_ENST00000330317.2_Silent_p.K91K|WDR4_ENST00000492742.1_Intron	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.K91K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ATTGCCATGGTTTTGTACGGA	0.478																																					p.K91K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A273G	21						.						261.0	227.0	238.0					21																	44293684		2203	4300	6503	43166753	SO:0001819	synonymous_variant	10785	exon3			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.273A>G	21.37:g.44293684T>C			43166753	NM_033661		Silent	SNP	ENST00000398208.2	37	CCDS13691.1																																																																																				0.478	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1		
NDUFV3	4731	broad.mit.edu	37	21	44317064	44317064	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:44317064C>T	ENST00000340344.4	+	2	142	c.76C>T	c.(76-78)Cga>Tga	p.R26*	NDUFV3_ENST00000354250.2_Nonsense_Mutation_p.R26*|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	26					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)	p.R26*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CCAGGTGTTTCGAGGACTTGC	0.393																																					p.R26X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C76T	21						.						85.0	84.0	84.0					21																	44317064		2203	4300	6503	43190133	SO:0001587	stop_gained	4731	exon2				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.76C>T	21.37:g.44317064C>T	ENSP00000342895:p.Arg26*		43190133	NM_001001503	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Nonsense_Mutation	SNP	ENST00000340344.4	37	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564933	0.96527	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	5.3	4.42	0.53409	.	0.616872	0.16245	N	0.222979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-5.639	9.8864	0.41264	0.0:0.905:0.0:0.095	.	.	.	.	X	26;26;9	.	ENSP00000342895:R26X	R	+	1	2	NDUFV3	43190133	0.995000	0.38212	0.926000	0.36857	0.849000	0.48306	2.984000	0.49353	1.353000	0.45828	0.655000	0.94253	CGA		0.393	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2		
U2AF1	7307	broad.mit.edu	37	21	44513342	44513342	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:44513342C>T	ENST00000291552.4	-	8	685	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	U2AF1_ENST00000380276.2_Missense_Mutation_p.R198Q|U2AF1_ENST00000398137.1_Missense_Mutation_p.R125Q|U2AF1_ENST00000459639.1_Missense_Mutation_p.R125Q|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	198	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R198Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CTCCCGGGATCGGGATCTTGA	0.622			Mis		"""CLL, MDS"""																																p.R198Q			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593A	21						.						49.0	55.0	53.0					21																	44513342		2203	4300	6503	43386411	SO:0001583	missense	7307	exon8			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.593G>A	21.37:g.44513342C>T	ENSP00000291552:p.Arg198Gln		43386411	NM_006758	Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956055	0.73902	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	4.81	4.81	0.61882	.	0.052628	0.64402	D	0.000002	T	0.20414	0.0491	L	0.54323	1.7	0.80722	D	1	P;P	0.50369	0.934;0.934	P;P	0.49528	0.614;0.614	T	0.00770	-1.1573	10	0.56958	D	0.05	-11.7919	18.2435	0.89977	0.0:1.0:0.0:0.0	.	198;198	Q01081;Q701P4	U2AF1_HUMAN;.	Q	125;198;198;125	ENSP00000418705:R125Q;ENSP00000369629:R198Q;ENSP00000291552:R198Q;ENSP00000381205:R125Q	ENSP00000291552:R198Q	R	-	2	0	U2AF1	43386411	1.000000	0.71417	0.994000	0.49952	0.850000	0.48378	6.219000	0.72231	2.371000	0.80710	0.563000	0.77884	CGA		0.622	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758	
DNMT3L	29947	broad.mit.edu	37	21	45671557	45671557	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:45671557G>T	ENST00000418993.1	-	9	1201	c.718C>A	c.(718-720)Ctt>Att	p.L240I	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Missense_Mutation_p.L240I	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	240					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.L240I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCGTACACAAGATCGAAGGGT	0.652																																					p.L240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718A	21						.						99.0	72.0	81.0					21																	45671557		2203	4300	6503	44495985	SO:0001583	missense	29947	exon9			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.718C>A	21.37:g.45671557G>T	ENSP00000412862:p.Leu240Ile		44495985	NM_175867	E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666510	0.29604	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.80393	-1.37;-1.37;-1.37	2.81	1.9	0.25705	.	0.000000	0.64402	D	0.000012	D	0.87196	0.6117	M	0.82716	2.605	0.39612	D	0.96989	D;D	0.61697	0.99;0.99	D;D	0.85130	0.997;0.997	D	0.85050	0.0928	10	0.48119	T	0.1	-29.334	6.0894	0.19985	0.1469:0.0:0.8531:0.0	.	240;240	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	I	240;240;225	ENSP00000270172:L240I;ENSP00000412862:L240I;ENSP00000400242:L225I	ENSP00000270172:L240I	L	-	1	0	DNMT3L	44495985	1.000000	0.71417	0.325000	0.25375	0.005000	0.04900	1.247000	0.32815	0.720000	0.32209	0.561000	0.74099	CTT		0.652	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	
TRPM2	7226	broad.mit.edu	37	21	45833864	45833864	+	Missense_Mutation	SNP	C	C	T	rs145947009	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:45833864C>T	ENST00000397928.1	+	20	3498	c.3053C>T	c.(3052-3054)cCg>cTg	p.P1018L	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.P1018L|TRPM2_ENST00000300482.5_Missense_Mutation_p.P1018L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.P998L|AP001065.2_ENST00000456880.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1018					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.P1018L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAGCAGAGGCCGGCCTTCCCT	0.617													C|||	35	0.00698882	0.0	0.0	5008	,	,		17763	0.0337		0.0	False		,,,				2504	0.001				p.P1018L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3053T	21	GRCh37	CM086006	TRPM2	M	rs145947009	.	C	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	227.0	229.0	229.0		3053	4.9	0.1	21	dbSNP_134	229	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	98	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1018/1504	45833864	2,13004	2203	4300	6503	44658292	SO:0001583	missense	7226	exon20			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3053C>T	21.37:g.45833864C>T	ENSP00000381023:p.Pro1018Leu		44658292	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	14	0.00641025641025641	2	0.0040650406504065045	0	0.0	11	0.019230769230769232	1	0.0013192612137203166	C	17.80	3.478135	0.63849	4.54E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.93	4.93	0.64822	Ion transport (1);	0.333938	0.27782	N	0.017870	T	0.68430	0.3000	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.78244	-0.2279	10	0.59425	D	0.04	-22.3206	18.5231	0.90960	0.0:1.0:0.0:0.0	.	1018;804;1018	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	L	1018;1018;998;1018	ENSP00000300482:P1018L;ENSP00000381023:P1018L;ENSP00000300481:P998L;ENSP00000381026:P1018L	ENSP00000300481:P998L	P	+	2	0	TRPM2	44658292	1.000000	0.71417	0.092000	0.20876	0.141000	0.21300	7.109000	0.77062	2.455000	0.83008	0.591000	0.81541	CCG		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
TSPEAR	54084	broad.mit.edu	37	21	45945672	45945672	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:45945672G>T	ENST00000323084.4	-	8	1265	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.F332L|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	400					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.F400L(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AAATGACAGAGAACTCCTGAC	0.522																																					p.F400L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1200A	21						.						173.0	174.0	174.0					21																	45945672		2203	4300	6503	44770100	SO:0001583	missense	54084	exon8			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1200C>A	21.37:g.45945672G>T	ENSP00000321987:p.Phe400Leu		44770100	NM_144991		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	9.144	1.014480	0.19277	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.14266	2.53;2.52	4.34	4.34	0.51931	.	0.441828	0.25738	N	0.028638	T	0.11580	0.0282	L	0.43152	1.355	0.80722	D	1	B	0.09022	0.002	B	0.17979	0.02	T	0.07290	-1.0780	10	0.10636	T	0.68	-9.5219	11.8346	0.52316	0.0861:0.0:0.9139:0.0	.	400	Q8WU66	TSEAR_HUMAN	L	400;253;332;401	ENSP00000321987:F400L;ENSP00000381012:F332L	ENSP00000321987:F400L	F	-	3	2	TSPEAR	44770100	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.966000	0.29331	2.128000	0.65567	0.591000	0.81541	TTC		0.522	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
TSPEAR	54084	broad.mit.edu	37	21	45947241	45947241	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:45947241G>A	ENST00000323084.4	-	7	1148	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TSPEAR_ENST00000397916.1_Silent_p.F293F	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	361					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.F361F(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GATATGAGACGAACTTCTCTT	0.552																																					p.F361F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1083T	21						.						275.0	254.0	261.0					21																	45947241		2203	4300	6503	44771669	SO:0001819	synonymous_variant	54084	exon7			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1083C>T	21.37:g.45947241G>A			44771669	NM_144991		Silent	SNP	ENST00000323084.4	37	CCDS13712.1																																																																																				0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
KRTAP10-7	386675	broad.mit.edu	37	21	46021524	46021524	+	Missense_Mutation	SNP	G	G	A	rs369025844		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:46021524G>A	ENST00000380102.2	+	1	1028	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	335	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A335T(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTCCTGCTGCGCCCCCACCTC	0.716													-|||	1	0.000199681	0.0008	0.0	5008	,	,		14870	0.0		0.0	False		,,,				2504	0.0				p.A330T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	21						.	G	THR/ALA,	0,4398		0,0,2199	38.0	42.0	41.0		1003,	0.3	0.1	21		41	1,8575	1.2+/-3.3	0,1,4287	no	missense,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	58,	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,	335/376,	46021524	1,12973	2199	4288	6487	44845952	SO:0001583	missense	386675	exon2			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1003G>A	21.37:g.46021524G>A	ENSP00000369445:p.Ala335Thr		44845952	NM_198689	Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37		.	.	.	.	.	.	.	.	.	.	g	4.807	0.150053	0.09185	0.0	1.17E-4	ENSG00000205441	ENST00000380102	T	0.01359	4.98	2.36	0.298	0.15766	.	.	.	.	.	T	0.01222	0.0040	L	0.54323	1.7	0.09310	N	1	P	0.40681	0.727	B	0.29176	0.099	T	0.48186	-0.9057	9	0.25751	T	0.34	.	3.5945	0.08001	0.3042:0.2145:0.4813:0.0	.	330	P60409-2	.	T	335	ENSP00000369445:A335T	ENSP00000369445:A335T	A	+	1	0	KRTAP10-7	44845952	0.001000	0.12720	0.065000	0.19835	0.107000	0.19398	0.309000	0.19332	0.122000	0.18314	0.467000	0.42956	GCC		0.716	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
MCM3AP	8888	broad.mit.edu	37	21	47655303	47655303	+	Missense_Mutation	SNP	G	G	A	rs17183403	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:47655303G>A	ENST00000397708.1	-	29	6076	c.5822C>T	c.(5821-5823)gCg>gTg	p.A1941V	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1941V|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1941			A -> V (in dbSNP:rs17183403). {ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.A1941V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGTTCCTGTCGCCTCTGACAG	0.488																																					p.A1941V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5822T	21						.						104.0	77.0	86.0					21																	47655303		2203	4300	6503	46479731	SO:0001583	missense	8888	exon28			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5822C>T	21.37:g.47655303G>A	ENSP00000380820:p.Ala1941Val		46479731	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657420	0.29425	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03580	3.88;3.88	4.94	-4.41	0.03590	.	1.268580	0.05297	N	0.522328	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.06405	0.0;0.002	T	0.46498	-0.9187	10	0.39692	T	0.17	-0.342	1.1882	0.01859	0.4096:0.0987:0.1888:0.3029	rs17183403	1941;436	O60318;B3KT88	MCM3A_HUMAN;.	V	1941;1941;436	ENSP00000380820:A1941V;ENSP00000291688:A1941V	ENSP00000291688:A1941V	A	-	2	0	MCM3AP	46479731	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.693000	0.05121	-0.699000	0.05077	-0.137000	0.14449	GCG		0.488	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
MCM3AP	8888	broad.mit.edu	37	21	47660879	47660879	+	Missense_Mutation	SNP	G	G	A	rs575883540		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:47660879G>A	ENST00000397708.1	-	27	5733	c.5479C>T	c.(5479-5481)Ctt>Ttt	p.L1827F	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.L1827F|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1827					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.L1827F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGCATGTGAAGCAATGGTATG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		23993	0.0		0.001	False		,,,				2504	0.0				p.L1827F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5479T	21						.						187.0	167.0	174.0					21																	47660879		2203	4300	6503	46485307	SO:0001583	missense	8888	exon26			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5479C>T	21.37:g.47660879G>A	ENSP00000380820:p.Leu1827Phe		46485307	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243254	0.22796	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03772	3.81;3.81	5.5	3.67	0.42095	.	0.611144	0.17348	N	0.177520	T	0.04634	0.0126	L	0.32530	0.975	0.09310	N	1	B;B	0.24368	0.002;0.102	B;B	0.23018	0.005;0.043	T	0.31971	-0.9924	10	0.59425	D	0.04	-2.8571	8.2686	0.31831	0.2486:0.0:0.7514:0.0	.	1827;322	O60318;B3KT88	MCM3A_HUMAN;.	F	1827;1827;322	ENSP00000380820:L1827F;ENSP00000291688:L1827F	ENSP00000291688:L1827F	L	-	1	0	MCM3AP	46485307	0.276000	0.24211	0.006000	0.13384	0.024000	0.10985	1.482000	0.35486	1.307000	0.44944	0.650000	0.86243	CTT		0.438	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
MCM3AP	8888	broad.mit.edu	37	21	47704009	47704009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:47704009C>A	ENST00000397708.1	-	2	1446	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*	YBEY_ENST00000397691.1_5'Flank|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.E398*|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397692.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	398					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.E398*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTTCAGTTTCTTCCTCTTTA	0.463																																					p.E398X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	21						.						84.0	88.0	86.0					21																	47704009		2203	4300	6503	46528437	SO:0001587	stop_gained	8888	exon1			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1192G>T	21.37:g.47704009C>A	ENSP00000380820:p.Glu398*		46528437	NM_003906	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675724	0.96764	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.33	4.44	0.53790	.	0.630430	0.16885	N	0.195547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-20.336	10.5565	0.45121	0.0:0.9095:0.0:0.0905	.	.	.	.	X	398	.	ENSP00000291688:E398X	E	-	1	0	MCM3AP	46528437	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.298000	0.51818	2.490000	0.84030	0.563000	0.77884	GAA		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906	
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	G	A	rs570468666		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:10916378G>A	ENST00000361285.4	-	20	1597	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_ENST00000298232.7_Missense_Mutation_p.S405L|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.S385L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGAGGAATCGAATAAATAAT	0.388													.|||	1	0.000199681	0.0008	0.0	5008	,	,		47548	0.0		0.0	False		,,,				2504	0.0				p.S405L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1214T	21						.																																			9938249	SO:0001583	missense	7179	exon19			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1268C>T	21.37:g.10916378G>A	ENSP00000355208:p.Ser423Leu		9938249	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374557	0.42105	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86562	-2.14;-2.14;-2.14	1.79	1.79	0.24919	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062472	0.64402	D	0.000003	D	0.90892	0.7138	M	0.81942	2.565	0.46028	D	0.998829	D;D;D	0.71674	0.998;0.998;0.978	D;D;P	0.65323	0.934;0.934;0.739	D	0.89728	0.3924	10	0.62326	D	0.03	-4.5869	7.1115	0.25392	0.0:0.0:1.0:0.0	.	385;405;423	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	405;423;385	ENSP00000298232:S405L;ENSP00000355208:S423L;ENSP00000344441:S385L	ENSP00000298232:S405L	S	-	2	0	TPTE	9938249	0.992000	0.36948	0.708000	0.30435	0.064000	0.16182	2.621000	0.46418	1.313000	0.45069	0.184000	0.17185	TCG		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10943004	10943004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:10943004G>A	ENST00000361285.4	-	12	912	c.583C>T	c.(583-585)Cga>Tga	p.R195*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.R177*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R157*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	195			R -> Q (in dbSNP:rs1810856).		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R177*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTAGAAGTCGAAGTAAATGT	0.308																																					p.R177X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C529T	21						.						71.0	65.0	67.0					21																	10943004		2203	4299	6502	9964875	SO:0001587	stop_gained	7179	exon11			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.583C>T	21.37:g.10943004G>A	ENSP00000355208:p.Arg195*		9964875	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	22.4	4.278363	0.80692	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	0.072998	0.56097	U	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7066	10.2257	0.43225	0.0:0.0:1.0:0.0	.	.	.	.	X	177;195;157	.	ENSP00000298232:R177X	R	-	1	2	TPTE	9964875	0.009000	0.17119	0.034000	0.17996	0.036000	0.12997	1.383000	0.34385	1.470000	0.48102	0.194000	0.17425	CGA		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10951393	10951393	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:10951393T>C	ENST00000361285.4	-	10	648	c.319A>G	c.(319-321)Act>Gct	p.T107A	TPTE_ENST00000298232.7_Missense_Mutation_p.T89A|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.T69A	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	107					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.T89A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGATGAGAGTGACATCCAGT	0.338																																					p.T89A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A265G	21						.						134.0	138.0	137.0					21																	10951393		2203	4300	6503	9973264	SO:0001583	missense	7179	exon9			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.319A>G	21.37:g.10951393T>C	ENSP00000355208:p.Thr107Ala		9973264	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.028	-1.351227	0.01256	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97279	-4.32;-4.32;-4.32	1.8	-1.16	0.09678	.	0.778417	0.11366	U	0.571402	D	0.87997	0.6319	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.09377	0.004;0.004;0.004	T	0.79006	-0.1979	10	0.13108	T	0.6	-0.3163	2.39	0.04376	0.4411:0.2732:0.0:0.2857	.	69;89;107	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	89;107;69;89	ENSP00000298232:T89A;ENSP00000355208:T107A;ENSP00000344441:T69A	ENSP00000298232:T89A	T	-	1	0	TPTE	9973264	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.978000	0.03778	-0.262000	0.09392	0.163000	0.16589	ACT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
DIP2A	23181	broad.mit.edu	37	21	47904673	47904673	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr21:47904673A>G	ENST00000417564.2	+	2	116	c.95A>G	c.(94-96)gAc>gGc	p.D32G	DIP2A_ENST00000466639.1_Missense_Mutation_p.D32G|DIP2A_ENST00000435722.3_Missense_Mutation_p.D32G|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000457905.3_Missense_Mutation_p.D32G|DIP2A_ENST00000318711.7_Missense_Mutation_p.D32G|DIP2A_ENST00000400274.1_Missense_Mutation_p.D32G			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	32	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.D32G(2)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTTTTAGGTGACATCACTCAA	0.318																																					p.D32G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A95G	21						.						63.0	57.0	59.0					21																	47904673		1902	4152	6054	46729101	SO:0001583	missense	23181	exon2			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.95A>G	21.37:g.47904673A>G	ENSP00000392066:p.Asp32Gly		46729101	NM_001146115	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202246	0.79127	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.95	5.95	0.96441	DMAP1-binding (1);	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.78456	2.415	0.80722	D	1	P;B;P;D;P	0.61697	0.889;0.009;0.801;0.99;0.849	P;B;P;D;P	0.65233	0.842;0.016;0.79;0.933;0.615	T	0.73751	-0.3884	10	0.87932	D	0	-31.3793	10.3918	0.44175	0.9236:0.0:0.0764:0.0	.	32;32;32;32;32	E9PER1;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	G	32	ENSP00000383133:D32G;ENSP00000323633:D32G;ENSP00000393434:D32G;ENSP00000430249:D32G;ENSP00000415089:D32G;ENSP00000392066:D32G	ENSP00000323633:D32G	D	+	2	0	DIP2A	46729101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.056000	0.71111	2.277000	0.76020	0.533000	0.62120	GAC		0.318	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
AKTIP	64400	broad.mit.edu	37	16	53528084	53528087	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53528084_53528087delCAAA	ENST00000394657.7	-	8	847_850	c.673_676delTTTG	c.(673-678)tttgacfs	p.FD225fs	AKTIP_ENST00000300245.4_Frame_Shift_Del_p.FD225fs|AKTIP_ENST00000570004.1_Frame_Shift_Del_p.FD225fs	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	225					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)	p.F225fs*5(1)		large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAGGTTGGTCAAACAAACGAGCA	0.387																																					p.225_226del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.673_676del	16						.																																			52085588	SO:0001589	frameshift_variant	64400	exon8			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.673_676delTTTG	16.37:g.53528088_53528091delCAAA	ENSP00000378152:p.Phe225fs		52085585	NM_022476	Q503B1|Q53H38	Frame_Shift_Del	DEL	ENST00000394657.7	37	CCDS10749.1																																																																																				0.387	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476	
ATF7IP2	80063	broad.mit.edu	37	16	10524750	10524750	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:10524750C>A	ENST00000396560.2	+	3	500	c.273C>A	c.(271-273)ttC>ttA	p.F91L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.F91L|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.F91L|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.F91L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.F91L(1)		large_intestine(3)	3						GTAAAGTATTCTCTCAGAATT	0.333																																					p.F91L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C273A	16						.						39.0	43.0	42.0					16																	10524750		2197	4300	6497	10432251	SO:0001583	missense	80063	exon2			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.273C>A	16.37:g.10524750C>A	ENSP00000379808:p.Phe91Leu		10432251	NM_024997	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	8.255	0.809907	0.16537	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	4.97	-1.48	0.08745	.	1.109350	0.07074	N	0.835976	T	0.32793	0.0841	L	0.47716	1.5	0.09310	N	1	B;B	0.17038	0.017;0.02	B;B	0.15484	0.011;0.013	T	0.35051	-0.9804	10	0.49607	T	0.09	0.7943	5.1768	0.15139	0.0:0.3367:0.1566:0.5067	.	91;91	Q5U623-2;Q5U623	.;MCAF2_HUMAN	L	91	ENSP00000379807:F91L;ENSP00000379808:F91L;ENSP00000440791:F91L;ENSP00000348799:F91L;ENSP00000322811:F91L	ENSP00000322811:F91L	F	+	3	2	ATF7IP2	10432251	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	-0.311000	0.08124	-0.147000	0.11254	0.467000	0.42956	TTC		0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
EMP2	2013	broad.mit.edu	37	16	10631921	10631921	+	Silent	SNP	C	C	T	rs61731468	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:10631921C>T	ENST00000359543.3	-	4	389	c.180G>A	c.(178-180)acG>acA	p.T60T	EMP2_ENST00000536829.1_Silent_p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)	p.T60T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCGCCTGCAGCGTGGAGTACT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		17777	0.004		0.0	False		,,,				2504	0.0				p.T60T	GBM(158;2021 2691 14714 39478)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G180A	16						.	C		1,4393	2.1+/-5.4	0,1,2196	125.0	114.0	117.0		180	-6.2	0.0	16	dbSNP_129	117	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	EMP2	NM_001424.4		0,9,6488	TT,TC,CC		0.093,0.0228,0.0693		60/168	10631921	9,12985	2197	4300	6497	10539422	SO:0001819	synonymous_variant	2013	exon4			U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.180G>A	16.37:g.10631921C>T			10539422	NM_001424	B2R7V6|D3DUF8	Silent	SNP	ENST00000359543.3	37	CCDS10541.1																																																																																				0.622	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424	
TEKT5	146279	broad.mit.edu	37	16	10775927	10775927	+	Silent	SNP	G	G	A	rs148685770		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:10775927G>A	ENST00000283025.2	-	4	857	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	262						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.I262I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						ACTTCTCATCGATACACTGGG	0.537																																					p.I262I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C786T	16						.	G		0,4394		0,0,2197	284.0	218.0	240.0		786	-8.2	0.0	16	dbSNP_134	240	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TEKT5	NM_144674.1		0,4,6493	AA,AG,GG		0.0465,0.0,0.0308		262/486	10775927	4,12990	2197	4300	6497	10683428	SO:0001819	synonymous_variant	146279	exon4				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.786C>T	16.37:g.10775927G>A			10683428	NM_144674	A1L3Z3	Silent	SNP	ENST00000283025.2	37	CCDS10542.1																																																																																				0.537	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
NPRL3	8131	broad.mit.edu	37	16	167326	167326	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:167326G>T	ENST00000399953.3	-	4	769	c.367C>A	c.(367-369)Ctt>Att	p.L123I	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Intron	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	123					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)	p.L123I(2)		endometrium(1)|large_intestine(3)|ovary(2)	6						ACATTAAAAAGAATCATAGTA	0.413																																					p.L123I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C367A	16						.						66.0	63.0	64.0					16																	167326		1870	4092	5962	107326	SO:0001583	missense	8131	exon5				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.367C>A	16.37:g.167326G>T	ENSP00000382834:p.Leu123Ile		107326	NM_001077350	D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37		.	.	.	.	.	.	.	.	.	.	G	29.7	5.028632	0.93518	.	.	ENSG00000103148	ENST00000399953;ENST00000419636	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	.	.	.	0.80722	D	1	P;D	0.76494	0.817;0.999	B;D	0.80764	0.284;0.994	T	0.78331	-0.2245	8	0.42905	T	0.14	0.0277	18.4759	0.90792	0.0:0.0:1.0:0.0	.	45;123	B7Z220;Q12980	.;NPRL3_HUMAN	I	123;136	.	ENSP00000382834:L123I	L	-	1	0	NPRL3	107326	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.575000	0.74018	2.673000	0.90976	0.655000	0.94253	CTT		0.413	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476	
TEKT5	146279	broad.mit.edu	37	16	10788442	10788442	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:10788442A>G	ENST00000283025.2	-	1	360	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	97						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.S97P(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AGCTGGTTGGACTGGTCCCAG	0.677																																					p.S97P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T289C	16						.						64.0	75.0	71.0					16																	10788442		2197	4300	6497	10695943	SO:0001583	missense	146279	exon1				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.289T>C	16.37:g.10788442A>G	ENSP00000283025:p.Ser97Pro		10695943	NM_144674	A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	14.05	2.419827	0.42918	.	.	ENSG00000153060	ENST00000283025	T	0.02787	4.16	5.4	0.278	0.15673	.	0.563722	0.17280	N	0.180022	T	0.10594	0.0259	M	0.80616	2.505	0.41313	D	0.987123	P	0.40602	0.723	P	0.53988	0.739	T	0.01323	-1.1385	10	0.66056	D	0.02	-17.92	9.982	0.41819	0.3776:0.5095:0.0:0.1128	.	97	Q96M29	TEKT5_HUMAN	P	97	ENSP00000283025:S97P	ENSP00000283025:S97P	S	-	1	0	TEKT5	10695943	0.855000	0.29742	0.083000	0.20561	0.092000	0.18411	1.801000	0.38843	-0.165000	0.10908	0.528000	0.53228	TCC		0.677	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
CIITA	4261	broad.mit.edu	37	16	11001566	11001566	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11001566G>T	ENST00000324288.8	+	11	2350	c.2217G>T	c.(2215-2217)ttG>ttT	p.L739F	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	739					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.L739F(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCTAGCATTGACCCCAAGGA	0.632			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																p.L739F			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2217T	16						.						74.0	79.0	77.0					16																	11001566		2197	4300	6497	10909067	SO:0001583	missense	4261	exon11			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2217G>T	16.37:g.11001566G>T	ENSP00000316328:p.Leu739Phe		10909067	NM_000246	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202306	0.38905	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.77750	-1.12	5.15	4.17	0.49024	.	0.000000	0.42964	D	0.000627	D	0.83658	0.5302	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.973;0.998;0.984;0.999	P;P;P;D	0.87578	0.685;0.882;0.881;0.998	T	0.81897	-0.0722	10	0.38643	T	0.18	.	10.1775	0.42948	0.0:0.1482:0.6985:0.1533	.	739;739;691;739	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	F	739;691	ENSP00000316328:L739F	ENSP00000316328:L739F	L	+	3	2	CIITA	10909067	1.000000	0.71417	0.976000	0.42696	0.326000	0.28443	1.682000	0.37628	1.119000	0.41883	0.655000	0.94253	TTG		0.632	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
CLEC16A	23274	broad.mit.edu	37	16	11118741	11118741	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11118741C>T	ENST00000409790.1	+	13	1730	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	CLEC16A_ENST00000409552.3_Silent_p.F482F|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.F500F(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATGCCCTGTTCGTGCTCTGCC	0.552																																					p.F500F												.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C1500T	16						.						96.0	98.0	97.0					16																	11118741		2133	4239	6372	11026242	SO:0001819	synonymous_variant	23274	exon12			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1500C>T	16.37:g.11118741C>T			11026242	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																				0.552	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
CLEC16A	23274	broad.mit.edu	37	16	11141179	11141179	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11141179G>T	ENST00000409790.1	+	17	2076	c.1846G>T	c.(1846-1848)Gat>Tat	p.D616Y	CLEC16A_ENST00000409552.3_Missense_Mutation_p.D598Y|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)|p.D616Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CATGTTTGAAGATGAGTATAG	0.463																																					p.D616Y												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G1846T	16						.						68.0	67.0	67.0					16																	11141179		1910	4120	6030	11048680	SO:0001583	missense	23274	exon16			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1846G>T	16.37:g.11141179G>T	ENSP00000387122:p.Asp616Tyr		11048680	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902019	0.92035	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.53640	0.61	5.39	5.39	0.77823	.	0.091594	0.64402	D	0.000001	T	0.67887	0.2941	M	0.79693	2.465	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.59948	0.866;0.814	T	0.73030	-0.4111	10	0.87932	D	0	-20.6323	16.7323	0.85438	0.0:0.0:1.0:0.0	.	616;598	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	Y	616;616;598	ENSP00000387122:D616Y	ENSP00000386495:D598Y	D	+	1	0	CLEC16A	11048680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.773000	0.91762	2.543000	0.85770	0.650000	0.86243	GAT		0.463	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
CLEC16A	23274	broad.mit.edu	37	16	11272334	11272334	+	Silent	SNP	C	C	T	rs201719789		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11272334C>T	ENST00000409790.1	+	24	3179	c.2949C>T	c.(2947-2949)ctC>ctT	p.L983L	CLEC16A_ENST00000381822.2_Silent_p.L70L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.L983L(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCCCAGCCTCGTCCCTGCCC	0.632																																					p.L983L												.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C2949T	16						.						62.0	75.0	71.0					16																	11272334		2154	4251	6405	11179835	SO:0001819	synonymous_variant	23274	exon23			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2949C>T	16.37:g.11272334C>T			11179835	NM_015226		Silent	SNP	ENST00000409790.1	37	CCDS45409.1																																																																																				0.632	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
TNP2	7142	broad.mit.edu	37	16	11362879	11362879	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11362879G>A	ENST00000312693.3	-	1	310	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	81					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)|p.R81C(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TTTTTGTGGCGCTTTGGTGGT	0.602																																					p.R81C												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C241T	16						.						142.0	150.0	148.0					16																	11362879		2087	4219	6306	11270380	SO:0001583	missense	7142	exon1				CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.241C>T	16.37:g.11362879G>A	ENSP00000325738:p.Arg81Cys		11270380	NM_005425	Q9NZB0	Missense_Mutation	SNP	ENST00000312693.3	37	CCDS45410.1	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796775	0.16327	.	.	ENSG00000178279	ENST00000312693	T	0.51574	0.7	3.2	2.23	0.28157	.	0.214824	0.23666	N	0.045773	T	0.41811	0.1175	L	0.29908	0.895	0.09310	N	1	D	0.69078	0.997	P	0.51777	0.679	T	0.22452	-1.0216	10	0.87932	D	0	-6.5072	7.8219	0.29292	0.0:0.0:0.7526:0.2474	.	81	Q05952	STP2_HUMAN	C	81	ENSP00000325738:R81C	ENSP00000325738:R81C	R	-	1	0	TNP2	11270380	0.018000	0.18449	0.005000	0.12908	0.006000	0.05464	0.537000	0.23144	0.908000	0.36671	-0.277000	0.10078	CGC		0.602	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425	
PRM2	5620	broad.mit.edu	37	16	11370104	11370104	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11370104C>T	ENST00000241808.4	-	1	233	c.124G>A	c.(124-126)Gag>Aag	p.E42K	PRM3_ENST00000327157.2_5'Flank|PRM2_ENST00000435245.2_Missense_Mutation_p.E42K|RMI2_ENST00000572173.1_Intron|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	42					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)|p.E42K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TCGTAGACCTCGACGTGCTCC	0.632																																					p.E42K												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G124A	16						.						87.0	93.0	91.0					16																	11370104		2173	4275	6448	11277605	SO:0001583	missense	5620	exon1				CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.124G>A	16.37:g.11370104C>T	ENSP00000241808:p.Glu42Lys		11277605	NM_002762	Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	CCDS42118.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948593	0.53186	.	.	ENSG00000122304	ENST00000241808;ENST00000435245	.	.	.	3.35	1.34	0.21922	.	0.881969	0.09257	N	0.827100	T	0.26846	0.0657	L	0.29908	0.895	0.09310	N	1	P;P	0.49696	0.927;0.816	B;B	0.40009	0.316;0.209	T	0.16364	-1.0405	9	0.87932	D	0	-0.1281	10.0648	0.42297	0.0:0.6974:0.3026:0.0	.	42;42	Q6ZMM0;P04554	.;PRM2_HUMAN	K	42	.	ENSP00000241808:E42K	E	-	1	0	PRM2	11277605	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	1.053000	0.30442	0.427000	0.26145	0.491000	0.48974	GAG		0.632	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1		
TXNDC11	51061	broad.mit.edu	37	16	11773668	11773668	+	Missense_Mutation	SNP	C	C	T	rs151125071		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11773668C>T	ENST00000356957.3	-	13	2448	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E754K|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	781	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.E754K(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGGACGTCTTCGGGGTATTTC	0.507																																					p.E754K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2260A	16						.	C	LYS/GLU	0,4394		0,0,2197	57.0	46.0	50.0		2260	4.9	0.8	16	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	TXNDC11	NM_015914.5	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	754/959	11773668	1,12993	2197	4300	6497	11681169	SO:0001583	missense	51061	exon12			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2341G>A	16.37:g.11773668C>T	ENSP00000349439:p.Glu781Lys		11681169	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	C	15.55	2.866775	0.51588	0.0	1.16E-4	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15718	2.63;2.4	5.9	4.94	0.65067	Thioredoxin-like fold (2);	0.155864	0.56097	D	0.000027	T	0.16257	0.0391	L	0.38175	1.15	0.47374	D	0.999403	B;D	0.53312	0.402;0.959	B;B	0.42882	0.146;0.401	T	0.02797	-1.1109	10	0.27082	T	0.32	-15.5921	15.5817	0.76448	0.1387:0.8613:0.0:0.0	.	781;754	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	K	781;754	ENSP00000349439:E781K;ENSP00000283033:E754K	ENSP00000283033:E754K	E	-	1	0	TXNDC11	11681169	1.000000	0.71417	0.847000	0.33407	0.670000	0.39368	5.372000	0.66156	1.482000	0.48325	0.650000	0.86243	GAA		0.507	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914	
ZC3H7A	29066	broad.mit.edu	37	16	11855829	11855829	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:11855829C>A	ENST00000396516.2	-	17	2347	c.2150G>T	c.(2149-2151)aGa>aTa	p.R717I	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.R717I			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	717						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R717I(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTGACCGTTTCTCAGACACTG	0.328																																					p.R717I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2150T	16						.						128.0	112.0	117.0					16																	11855829		2196	4299	6495	11763330	SO:0001583	missense	29066	exon18			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2150G>T	16.37:g.11855829C>A	ENSP00000379773:p.Arg717Ile		11763330	NM_014153	D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677684	0.88445	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.12255	2.7;2.7	5.52	3.56	0.40772	.	0.042016	0.85682	D	0.000000	T	0.33818	0.0876	M	0.76574	2.34	0.80722	D	1	D;P	0.60160	0.987;0.796	D;P	0.70016	0.967;0.786	T	0.09684	-1.0663	10	0.72032	D	0.01	.	10.7837	0.46393	0.0:0.8474:0.0:0.1526	.	438;717	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	I	717	ENSP00000347999:R717I;ENSP00000379773:R717I	ENSP00000347999:R717I	R	-	2	0	ZC3H7A	11763330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.222000	0.51223	1.320000	0.45209	0.591000	0.81541	AGA		0.328	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153	
SNX29	92017	broad.mit.edu	37	16	12140254	12140254	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:12140254G>T	ENST00000566228.1	+	6	511	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	148	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.D148Y(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTTTTATGAAGACTGGTCTTT	0.483																																					p.D148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	16						.						188.0	168.0	175.0					16																	12140254		2197	4300	6497	12047755	SO:0001583	missense	84127	exon6			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.442G>T	16.37:g.12140254G>T	ENSP00000456480:p.Asp148Tyr		12047755	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557645	0.86231	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.63	5.63	0.86233	.	0.061993	0.64402	D	0.000009	T	0.71643	0.3364	L	0.50333	1.59	0.80722	D	1	.	.	.	.	.	.	T	0.72811	-0.4180	7	0.66056	D	0.02	-9.1272	18.2552	0.90017	0.0:0.0:1.0:0.0	.	.	.	.	Y	148	.	ENSP00000268271:D148Y	D	+	1	0	RUNDC2A	12047755	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.654000	0.98509	2.644000	0.89710	0.563000	0.77884	GAC		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
UBE2I	7329	broad.mit.edu	37	16	1370198	1370198	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:1370198C>A	ENST00000355803.4	+	5	798	c.247C>A	c.(247-249)Cac>Aac	p.H83N	LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000406620.1_Missense_Mutation_p.H83N|UBE2I_ENST00000402301.1_Missense_Mutation_p.H83N|UBE2I_ENST00000325437.5_Missense_Mutation_p.H83N|UBE2I_ENST00000566587.1_Missense_Mutation_p.H83N|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000403747.2_Missense_Mutation_p.H83N|UBE2I_ENST00000397515.2_Missense_Mutation_p.H83N|UBE2I_ENST00000397514.3_Missense_Mutation_p.H83N	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	83					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.H83N(1)		breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				ACCATTATTTCACCCGAATGT	0.542																																					p.H83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C247A	16						.						87.0	78.0	81.0					16																	1370198		2199	4300	6499	1310199	SO:0001583	missense	7329	exon6			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.247C>A	16.37:g.1370198C>A	ENSP00000348056:p.His83Asn		1310199	NM_194259	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672629	0.88348	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747;ENST00000402301	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74348	0.983;0.97	D	0.92434	0.5956	10	0.87932	D	0	.	16.1129	0.81275	0.0:1.0:0.0:0.0	.	83;83	B0QYN7;P63279	.;UBC9_HUMAN	N	83	ENSP00000324897:H83N;ENSP00000348056:H83N;ENSP00000380649:H83N;ENSP00000380650:H83N;ENSP00000384568:H83N;ENSP00000385009:H83N;ENSP00000384361:H83N	ENSP00000324897:H83N	H	+	1	0	UBE2I	1310199	1.000000	0.71417	0.943000	0.38184	0.832000	0.47134	7.606000	0.82863	2.679000	0.91253	0.561000	0.74099	CAC		0.542	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2	NM_003345	
SNX29	92017	broad.mit.edu	37	16	12492312	12492312	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:12492312G>T	ENST00000566228.1	+	17	1978	c.1909G>T	c.(1909-1911)Gat>Tat	p.D637Y	SNX29_ENST00000306030.3_Missense_Mutation_p.D252Y|SNX29_ENST00000323433.4_Missense_Mutation_p.D252Y	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	637						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.D252Y(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GGTGCCTGGAGATTTGAGTCA	0.458																																					p.D252Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G754T	16						.						128.0	125.0	126.0					16																	12492312		1859	4109	5968	12399813	SO:0001583	missense	92017	exon10			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1909G>T	16.37:g.12492312G>T	ENSP00000456480:p.Asp637Tyr		12399813	NM_001080530	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121556	0.77436	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	L	0.58810	1.83	0.33957	D	0.6452	.	.	.	.	.	.	T	0.78393	-0.2221	7	0.87932	D	0	-26.0635	17.1552	0.86790	0.0:0.0:1.0:0.0	.	.	.	.	Y	252	.	ENSP00000306940:D252Y	D	+	1	0	SNX29	12399813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.835000	0.75344	2.633000	0.89246	0.655000	0.94253	GAT		0.458	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
ERCC4	2072	broad.mit.edu	37	16	14024596	14024596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:14024596G>A	ENST00000311895.7	+	5	831	c.822G>A	c.(820-822)tgG>tgA	p.W274*	ERCC4_ENST00000574781.1_3'UTR|ERCC4_ENST00000575156.1_Nonsense_Mutation_p.W274*|CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	274	Helicase-like.|Leucine-zipper 2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.W274*(2)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATCCTTTGTGGCACCAGCTTG	0.333			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.W274X		yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	.	.	2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)	c.G822A	16						.						85.0	77.0	80.0					16																	14024596		2197	4300	6497	13932097	SO:0001587	stop_gained	2072	exon5	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.822G>A	16.37:g.14024596G>A	ENSP00000310520:p.Trp274*		13932097	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552125	0.96501	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0634	19.0512	0.93046	0.0:0.0:1.0:0.0	.	.	.	.	X	274;263;263	.	ENSP00000310520:W274X	W	+	3	0	ERCC4	13932097	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.471000	0.97696	2.741000	0.93983	0.650000	0.86243	TGG		0.333	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
MKL2	57496	broad.mit.edu	37	16	14307415	14307415	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:14307415T>C	ENST00000341243.5	+	4	257	c.257T>C	c.(256-258)tTg>tCg	p.L86S	MKL2_ENST00000572567.1_Missense_Mutation_p.L86S|MKL2_ENST00000573051.1_Missense_Mutation_p.L46S|MKL2_ENST00000574045.1_Missense_Mutation_p.L97S|MKL2_ENST00000318282.5_Missense_Mutation_p.L97S|MKL2_ENST00000571589.1_Missense_Mutation_p.L97S			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	86					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L97S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAAAACTTTTTGAAACACAAG	0.279																																					p.L97S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T290C	16						.						67.0	67.0	67.0					16																	14307415		2197	4300	6497	14214916	SO:0001583	missense	57496	exon6			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.257T>C	16.37:g.14307415T>C	ENSP00000345841:p.Leu86Ser		14214916	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	t	20.9	4.067778	0.76301	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99823	-6.95;-6.95	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	M	0.89715	3.055	0.50632	D	0.999889	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96721	0.9532	10	0.66056	D	0.02	-10.7747	15.4318	0.75105	0.0:0.0:0.0:1.0	.	46;97;86;97	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	S	97;86;86	ENSP00000339086:L97S;ENSP00000345841:L86S	ENSP00000339086:L97S	L	+	2	0	MKL2	14214916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.161000	0.71868	2.237000	0.73441	0.528000	0.53228	TTG		0.279	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
MKL2	57496	broad.mit.edu	37	16	14340348	14340348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:14340348G>T	ENST00000341243.5	+	10	1198	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.E411*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.E411*|MKL2_ENST00000571589.1_Nonsense_Mutation_p.E411*			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	400	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E411*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTGAAGACAGAACTGAAGTT	0.488																																					p.E411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1231T	16						.						49.0	45.0	47.0					16																	14340348		2197	4300	6497	14247849	SO:0001587	stop_gained	57496	exon12			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1198G>T	16.37:g.14340348G>T	ENSP00000345841:p.Glu400*		14247849	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Nonsense_Mutation	SNP	ENST00000341243.5	37		.	.	.	.	.	.	.	.	.	.	G	41	8.620078	0.98888	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.6687	19.2512	0.93926	0.0:0.0:1.0:0.0	.	.	.	.	X	411;400	.	ENSP00000339086:E411X	E	+	1	0	MKL2	14247849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.788000	0.95919	0.655000	0.94253	GAA		0.488	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	C	T	rs148779363	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:14340860C>T	ENST00000341243.5	+	10	1710	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	MKL2_ENST00000574045.1_Silent_p.I581I|MKL2_ENST00000318282.5_Silent_p.I581I|MKL2_ENST00000571589.1_Silent_p.I581I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	570	Required for interaction with itself and with MKL1.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.I581I(3)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507																																					p.I581I												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C1743T	16						.	C		0,4394		0,0,2197	37.0	39.0	38.0		1743	-5.9	0.8	16	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	MKL2	NM_014048.3		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		581/1050	14340860	3,12991	2197	4300	6497	14248361	SO:0001819	synonymous_variant	57496	exon12			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1710C>T	16.37:g.14340860C>T			14248361	NM_014048	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37																																																																																					0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048	
PDXDC1	23042	broad.mit.edu	37	16	15102664	15102664	+	Missense_Mutation	SNP	G	G	A	rs371802617		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15102664G>A	ENST00000396410.4	+	7	705	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PDXDC1_ENST00000325823.7_Missense_Mutation_p.R188H|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R203H|MIR1972-1_ENST00000459337.1_RNA|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R221H|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R175H|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R112H|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R176H	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	203					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R203H(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTTGTGCCGTGTACCCTGT	0.458																																					p.R203H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	16						.	G	HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	367.0	317.0	334.0		608	3.8	1.0	16		334	0,8600		0,0,4300	no	missense	PDXDC1	NM_015027.2	29	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	203/789	15102664	1,12993	2197	4300	6497	15010165	SO:0001583	missense	23042	exon7			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.608G>A	16.37:g.15102664G>A	ENSP00000379691:p.Arg203His		15010165	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157176	0.57259	2.28E-4	0.0	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.8	3.75	0.43078	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.322125	0.37530	N	0.002041	T	0.32194	0.0821	L	0.52573	1.65	0.42382	D	0.992494	B;B;B;B;B;B	0.23185	0.02;0.081;0.036;0.028;0.02;0.02	B;B;B;B;B;B	0.16722	0.01;0.01;0.016;0.01;0.01;0.01	T	0.06023	-1.0850	10	0.13108	T	0.6	-17.5596	10.4865	0.44724	0.0729:0.1352:0.7919:0.0	.	175;112;188;203;175;203	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996	.;.;.;.;.;PDXD1_HUMAN	H	188;112;203;203;175	ENSP00000322807:R188H;ENSP00000400310:R112H;ENSP00000437835:R203H;ENSP00000379691:R203H;ENSP00000391147:R175H	ENSP00000322807:R188H	R	+	2	0	PDXDC1	15010165	0.961000	0.32948	1.000000	0.80357	0.985000	0.73830	1.439000	0.35013	2.752000	0.94435	0.650000	0.86243	CGT		0.458	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
MPV17L	255027	broad.mit.edu	37	16	15501853	15501853	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15501853C>A	ENST00000396385.3	+	4	594	c.475C>A	c.(475-477)Ctc>Atc	p.L159I	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.7_Missense_Mutation_p.S135Y	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	159					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)	p.S135Y(1)		kidney(2)|large_intestine(1)|skin(1)	4						CTGTGGTTTTCTCTGGGCCAC	0.498																																					p.S135Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C404A	16						.						65.0	57.0	60.0					16																	15501853		2197	4300	6497	15409354	SO:0001583	missense	255027	exon3			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.475C>A	16.37:g.15501853C>A	ENSP00000379669:p.Leu159Ile		15409354	NM_173803	B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	CCDS45421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.151|0.151	-1.091409|-1.091409	0.01858|0.01858	.|.	.|.	ENSG00000156968|ENSG00000156968	ENST00000396385|ENST00000287594	D|D	0.85773|0.92911	-2.03|-3.13	5.29|5.29	3.32|3.32	0.38043|0.38043	.|.	0.435897|.	0.19479|.	U|.	0.113245|.	D|D	0.87533|0.87533	0.6201|0.6201	.|.	.|.	.|.	0.29779|0.29779	N|N	0.834183|0.834183	B|P	0.31256|0.45078	0.316|0.85	B|B	0.27608|0.40285	0.081|0.325	D|D	0.83983|0.83983	0.0333|0.0333	9|8	0.07813|0.72032	T|D	0.8|0.01	-9.8577|-9.8577	5.9653|5.9653	0.19322|0.19322	0.0:0.6692:0.1561:0.1747|0.0:0.6692:0.1561:0.1747	.|.	159|135	Q2QL34|Q2QL34-2	MP17L_HUMAN|.	I|Y	159|135	ENSP00000379669:L159I|ENSP00000287594:S135Y	ENSP00000379669:L159I|ENSP00000287594:S135Y	L|S	+|+	1|2	0|0	MPV17L|MPV17L	15409354|15409354	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.079000|0.079000	0.17450|0.17450	0.434000|0.434000	0.21494|0.21494	1.240000|1.240000	0.43803|0.43803	0.471000|0.471000	0.43371|0.43371	CTC|TCT		0.498	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803	
IFT140	9742	broad.mit.edu	37	16	1633319	1633319	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:1633319A>G	ENST00000426508.2	-	12	1791	c.1428T>C	c.(1426-1428)agT>agC	p.S476S	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	476					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.S476S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCCACCTGCACTCCGTATCG	0.572																																					p.S476S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1428C	16						.						83.0	66.0	72.0					16																	1633319		2199	4300	6499	1573320	SO:0001819	synonymous_variant	9742	exon12			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1428T>C	16.37:g.1633319A>G			1573320	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.572	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
C16orf45	89927	broad.mit.edu	37	16	15675086	15675086	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15675086C>A	ENST00000300006.4	+	4	676	c.317C>A	c.(316-318)aCc>aAc	p.T106N	C16orf45_ENST00000452191.2_Missense_Mutation_p.T89N|C16orf45_ENST00000561692.1_Missense_Mutation_p.T58N|C16orf45_ENST00000566490.1_Missense_Mutation_p.T106N|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	106								p.T106N(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AAAGAAAAAACCAAACTGCAG	0.493																																					p.T89N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C266A	16						.						69.0	62.0	64.0					16																	15675086		2197	4300	6497	15582587	SO:0001583	missense	89927	exon4			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.317C>A	16.37:g.15675086C>A	ENSP00000300006:p.Thr106Asn		15582587	NM_001142469	O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086918	0.55861	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.55760	0.5;0.5	5.33	5.33	0.75918	Domain of unknown function DUF3585 (1);	0.141685	0.64402	D	0.000005	T	0.52041	0.1710	L	0.58428	1.81	0.47905	D	0.999544	B;B	0.29552	0.248;0.01	B;B	0.25884	0.064;0.01	T	0.53774	-0.8391	10	0.54805	T	0.06	-4.0795	18.5994	0.91242	0.0:1.0:0.0:0.0	.	50;106	B4DE25;Q96MC5	.;CP045_HUMAN	N	106;89	ENSP00000300006:T106N;ENSP00000408976:T89N	ENSP00000300006:T106N	T	+	2	0	C16orf45	15582587	0.989000	0.36119	0.998000	0.56505	0.995000	0.86356	2.631000	0.46502	2.499000	0.84300	0.655000	0.94253	ACC		0.493	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201	
MYH11	4629	broad.mit.edu	37	16	15829295	15829295	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15829295C>T	ENST00000300036.5	-	26	3543	c.3434G>A	c.(3433-3435)gGc>gAc	p.G1145D	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.G1152D|MYH11_ENST00000396324.3_Missense_Mutation_p.G1152D|MYH11_ENST00000576790.2_Missense_Mutation_p.G1145D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1145					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.G1145D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGCTCCTCGCCGAGGTCTCG	0.612			T	CBFB	AML																																p.G1152D			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3455A	16						.						152.0	131.0	138.0					16																	15829295		2197	4300	6497	15736796	SO:0001583	missense	4629	exon27			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3434G>A	16.37:g.15829295C>T	ENSP00000300036:p.Gly1145Asp		15736796	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390972	0.82902	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.19	5.19	0.71726	Myosin tail (1);	0.061906	0.64402	D	0.000004	D	0.87301	0.6143	L	0.48642	1.525	0.58432	D	0.999998	P;P;P;P;P	0.42357	0.777;0.71;0.578;0.71;0.71	P;P;P;P;P	0.56216	0.673;0.794;0.72;0.794;0.794	D	0.88415	0.3024	10	0.87932	D	0	.	17.73	0.88375	0.0:1.0:0.0:0.0	.	1152;1145;1152;1145;1152	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	1145;1145;1152;1152;1152	ENSP00000300036:G1145D;ENSP00000345136:G1145D;ENSP00000379616:G1152D;ENSP00000407821:G1152D	ENSP00000300036:G1145D	G	-	2	0	MYH11	15736796	0.994000	0.37717	1.000000	0.80357	0.845000	0.48019	5.942000	0.70203	2.420000	0.82092	0.442000	0.29010	GGC		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15832474	15832474	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15832474C>A	ENST00000300036.5	-	24	3178	c.3069G>T	c.(3067-3069)aaG>aaT	p.K1023N	MYH11_ENST00000452625.2_Missense_Mutation_p.K1030N|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000396324.3_Missense_Mutation_p.K1030N|MYH11_ENST00000576790.2_Missense_Mutation_p.K1023N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1023					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K1023N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGGTAAGATTCTTGGCCTTTT	0.343			T	CBFB	AML																																p.K1030N			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3090T	16						.						162.0	153.0	156.0					16																	15832474		2197	4300	6497	15739975	SO:0001583	missense	4629	exon25			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3069G>T	16.37:g.15832474C>A	ENSP00000300036:p.Lys1023Asn		15739975	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185130	0.38609	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.16	1.03	0.20045	.	0.118986	0.56097	D	0.000034	D	0.84853	0.5564	L	0.31926	0.97	0.80722	D	1	P;P;P;P;P	0.45594	0.862;0.633;0.633;0.633;0.633	P;P;P;P;P	0.57468	0.821;0.659;0.732;0.585;0.732	T	0.80058	-0.1541	10	0.02654	T	1	.	7.1112	0.25390	0.0:0.5918:0.0:0.4082	.	1030;1023;1030;1023;1030	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	1023;1023;1030;1030;1030	ENSP00000300036:K1023N;ENSP00000345136:K1023N;ENSP00000379616:K1030N;ENSP00000407821:K1030N	ENSP00000300036:K1023N	K	-	3	2	MYH11	15739975	0.991000	0.36638	0.999000	0.59377	0.994000	0.84299	0.340000	0.19892	0.329000	0.23460	0.555000	0.69702	AAG		0.343	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15869975	15869975	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15869975G>T	ENST00000300036.5	-	8	958	c.849C>A	c.(847-849)atC>atA	p.I283I	MYH11_ENST00000452625.2_Silent_p.I290I|MYH11_ENST00000396324.3_Silent_p.I290I|MYH11_ENST00000576790.2_Silent_p.I283I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	283	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I283I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGTAGTAAAAGATGTGGAATG	0.478			T	CBFB	AML																																p.I290I			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870A	16						.						332.0	295.0	307.0					16																	15869975		2197	4300	6497	15777476	SO:0001819	synonymous_variant	4629	exon9			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.849C>A	16.37:g.15869975G>T			15777476	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.478	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15878555	15878555	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15878555G>A	ENST00000300036.5	-	5	743				MYH11_ENST00000452625.2_Splice_Site_p.Y218Y|MYH11_ENST00000396324.3_Splice_Site_p.Y218Y|MYH11_ENST00000576790.2_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.Y218Y(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTTACTCACGTAGGCAAAAG	0.483			T	CBFB	AML																																p.Y218Y			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654T	16						.						107.0	108.0	107.0					16																	15878555		2058	4200	6258	15786056	SO:0001627	intron_variant	4629	exon6			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.633+1931C>T	16.37:g.15878555G>A			15786056	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.483	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15917266	15917266	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15917266C>T	ENST00000300036.5	-	3	457	c.348G>A	c.(346-348)acG>acA	p.T116T	MYH11_ENST00000452625.2_Silent_p.T116T|MYH11_ENST00000396324.3_Silent_p.T116T|MYH11_ENST00000576790.2_Silent_p.T116T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	116	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T116T(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGCCAGAGTACGTCTGCAGAC	0.512			T	CBFB	AML																																p.T116T			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G348A	16						.						146.0	117.0	127.0					16																	15917266		2197	4300	6497	15824767	SO:0001819	synonymous_variant	4629	exon3			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.348G>A	16.37:g.15917266C>T			15824767	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.512	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
MYH11	4629	broad.mit.edu	37	16	15932105	15932105	+	Missense_Mutation	SNP	G	G	A	rs587781072|rs150600829		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15932105G>A	ENST00000300036.5	-	2	114	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MYH11_ENST00000452625.2_Missense_Mutation_p.A2V|MYH11_ENST00000396324.3_Missense_Mutation_p.A2V|MYH11_ENST00000576790.2_Missense_Mutation_p.A2V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	2					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.A2V(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCTTCTGCGCCATGGTGCC	0.552			T	CBFB	AML																																p.A2V			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5T	16						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4394		0,0,2197	49.0	48.0	48.0		5,5,5,5	5.8	1.0	16	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MYH11	NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2	64,64,64,64	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	2/1946,2/1980,2/1973,2/1939	15932105	1,12993	2197	4300	6497	15839606	SO:0001583	missense	4629	exon2			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5C>T	16.37:g.15932105G>A	ENSP00000300036:p.Ala2Val		15839606	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247472	0.80024	0.0	1.16E-4	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.82	5.82	0.92795	.	0.195281	0.44097	D	0.000495	T	0.74756	0.3758	N	0.14661	0.345	0.47153	D	0.99933	P;P;P;P;P	0.35411	0.5;0.5;0.5;0.5;0.5	B;B;B;B;B	0.26416	0.069;0.069;0.069;0.069;0.069	T	0.77146	-0.2695	10	0.66056	D	0.02	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	2;2;2;2;2	Q4G140;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	2	ENSP00000300036:A2V;ENSP00000345136:A2V;ENSP00000379616:A2V;ENSP00000407821:A2V	ENSP00000300036:A2V	A	-	2	0	MYH11	15839606	1.000000	0.71417	0.973000	0.42090	0.963000	0.63663	6.031000	0.70911	2.756000	0.94617	0.561000	0.74099	GCG		0.552	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ABCC1	4363	broad.mit.edu	37	16	16208886	16208886	+	Missense_Mutation	SNP	G	G	A	rs371062976		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:16208886G>A	ENST00000399410.3	+	23	3518	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T	ABCC1_ENST00000349029.5_Missense_Mutation_p.A1000T|ABCC1_ENST00000351154.5_Missense_Mutation_p.A1056T|ABCC1_ENST00000399408.2_Missense_Mutation_p.A1125T|ABCC1_ENST00000346370.5_Missense_Mutation_p.A1059T|ABCC1_ENST00000345148.5_Missense_Mutation_p.A1115T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1115	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A1115T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CACGCCCATCGCCGCCATCAT	0.552																																					p.A1056T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3166A	16						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4276		0,0,2138	60.0	65.0	63.0		3343,3166,3175,2998,3343	5.2	0.0	16		63	1,8505		0,1,4252	no	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	58,58,58,58,58	0,1,6390	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1115/1532,1056/1473,1059/1476,1000/1417,1115/1467	16208886	1,12781	2138	4253	6391	16116387	SO:0001583	missense	4363	exon22			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3343G>A	16.37:g.16208886G>A	ENSP00000382342:p.Ala1115Thr		16116387	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243284	0.39697	0.0	1.18E-4	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.18	5.18	0.71444	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.113544	0.64402	D	0.000008	D	0.89798	0.6819	L	0.33485	1.01	0.30349	N	0.784928	B;P;D;D;D;D	0.61080	0.194;0.909;0.971;0.989;0.976;0.971	B;B;P;P;P;P	0.56700	0.092;0.373;0.642;0.656;0.804;0.704	D	0.88435	0.3038	10	0.66056	D	0.02	-16.586	17.6861	0.88256	0.0:0.0:1.0:0.0	.	1000;1115;1059;1056;1115;1125	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	T	1115;1125;1059;1056;1115;1000;799	ENSP00000382342:A1115T;ENSP00000382340:A1125T;ENSP00000263019:A1059T;ENSP00000263017:A1056T;ENSP00000263014:A1115T;ENSP00000263016:A1000T	ENSP00000263014:A1115T	A	+	1	0	ABCC1	16116387	1.000000	0.71417	0.027000	0.17364	0.052000	0.14988	5.509000	0.67012	2.417000	0.82017	0.655000	0.94253	GCC		0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
ABCC1	4363	broad.mit.edu	37	16	16228264	16228264	+	Missense_Mutation	SNP	C	C	T	rs201020041		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:16228264C>T	ENST00000399410.3	+	28	4199	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ABCC1_ENST00000349029.5_Missense_Mutation_p.R1227W|ABCC1_ENST00000351154.5_Missense_Mutation_p.R1283W|ABCC1_ENST00000399408.2_Missense_Mutation_p.R1352W|ABCC1_ENST00000346370.5_Missense_Mutation_p.R1286W|ABCC1_ENST00000345148.5_Missense_Mutation_p.R1342W	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1342	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R1342W(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGCTTATTTCGGATCAACGA	0.597																																					p.R1283W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3847T	16						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4258		0,0,2129	74.0	81.0	79.0		4024,3847,3856,3679,4024	5.8	1.0	16		79	1,8453		0,1,4226	no	missense,missense,missense,missense,missense	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	101,101,101,101,101	0,1,6355	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1342/1532,1283/1473,1286/1476,1227/1417,1342/1467	16228264	1,12711	2129	4227	6356	16135765	SO:0001583	missense	4363	exon27			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4024C>T	16.37:g.16228264C>T	ENSP00000382342:p.Arg1342Trp		16135765	NM_019862	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061670	0.93846	0.0	1.18E-4	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03;-3.03	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.053119	0.85682	N	0.000000	D	0.97876	0.9302	H	0.98068	4.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;0.998;0.995;0.999;0.998	D	0.98858	1.0761	10	0.87932	D	0	-31.3675	19.1415	0.93448	0.0:1.0:0.0:0.0	.	1227;1342;1286;1283;1342;1352	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	W	1342;1352;1286;1283;1342;1227;1026	ENSP00000382342:R1342W;ENSP00000382340:R1352W;ENSP00000263019:R1286W;ENSP00000263017:R1283W;ENSP00000263014:R1342W;ENSP00000263016:R1227W	ENSP00000263014:R1342W	R	+	1	2	ABCC1	16135765	0.998000	0.40836	1.000000	0.80357	0.468000	0.32798	3.316000	0.51960	2.758000	0.94735	0.655000	0.94253	CGG		0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
XYLT1	64131	broad.mit.edu	37	16	17211541	17211541	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:17211541G>A	ENST00000261381.6	-	11	2603	c.2519C>T	c.(2518-2520)gCg>gTg	p.A840V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	840					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.A840E(1)|p.A840V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCAGAGGCGCAACGAGGAA	0.542																																					p.A840V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2519T	16						.						73.0	69.0	71.0					16																	17211541		2197	4300	6497	17119042	SO:0001583	missense	64131	exon11			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2519C>T	16.37:g.17211541G>A	ENSP00000261381:p.Ala840Val		17119042	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.138951	0.21123	.	.	ENSG00000103489	ENST00000261381	T	0.04119	3.7	5.11	5.11	0.69529	.	0.097576	0.64402	D	0.000001	T	0.06600	0.0169	L	0.38175	1.15	0.58432	D	0.999996	D	0.64830	0.994	P	0.48270	0.572	T	0.21690	-1.0238	10	0.02654	T	1	-14.7591	17.8959	0.88888	0.0:0.0:1.0:0.0	.	840	Q86Y38	XYLT1_HUMAN	V	840	ENSP00000261381:A840V	ENSP00000261381:A840V	A	-	2	0	XYLT1	17119042	0.998000	0.40836	0.243000	0.24186	0.887000	0.51463	4.874000	0.63064	2.515000	0.84797	0.563000	0.77884	GCG		0.542	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
MEIOB	254528	broad.mit.edu	37	16	1903094	1903094	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:1903094G>A	ENST00000397344.3	-	9	918	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	MEIOB_ENST00000452149.2_Missense_Mutation_p.R242W|MEIOB_ENST00000470044.1_Missense_Mutation_p.R35W|MEIOB_ENST00000412554.2_Missense_Mutation_p.R242W|MEIOB_ENST00000325962.3_Missense_Mutation_p.R242W	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	242					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)	p.R242W(1)									ATGCAGTTCCGAAATTTGTCA	0.303																																					p.R242W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	16						.						58.0	57.0	57.0					16																	1903094		2198	4297	6495	1843095	SO:0001583	missense	254528	exon9			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 73"""	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.724C>T	16.37:g.1903094G>A	ENSP00000380504:p.Arg242Trp		1843095	NM_152764	B1AK39|C9J0S1|Q96RY0	5'UTR	SNP	ENST00000397344.3	37	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889310	0.72524	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.78	4.83	0.62350	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.139877	0.47852	D	0.000203	T	0.58623	0.2135	M	0.69823	2.125	0.43613	D	0.995985	D;D	0.76494	0.999;0.998	D;P	0.64595	0.927;0.795	T	0.62369	-0.6869	10	0.87932	D	0	.	9.5049	0.39040	0.0753:0.0:0.7742:0.1506	.	242;242	C9J0S1;Q8N635	.;CP073_HUMAN	W	242	ENSP00000390778:R242W;ENSP00000391033:R242W;ENSP00000314484:R242W;ENSP00000380504:R242W	ENSP00000314484:R242W	R	-	1	2	C16orf73	1843095	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.441000	0.59981	1.455000	0.47813	-0.142000	0.14014	CGG		0.303	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764	
XYLT1	64131	broad.mit.edu	37	16	17235156	17235156	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:17235156G>A	ENST00000261381.6	-	7	1525	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	481			R -> W (in DBQD2; loss of predominance of Golgi localization in mutant cells; DCN in cell culture supernatant demonstrates glycosylation differences between patient and control cells). {ECO:0000269|PubMed:23982343}.		cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R481W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGATCCGCCGATCTCCCAGG	0.597																																					p.R481W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1441T	16						.						79.0	82.0	81.0					16																	17235156		2197	4300	6497	17142657	SO:0001583	missense	64131	exon7			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1441C>T	16.37:g.17235156G>A	ENSP00000261381:p.Arg481Trp		17142657	NM_022166	Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156166	0.78114	.	.	ENSG00000103489	ENST00000261381	T	0.08807	3.05	5.92	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55418	-0.8144	10	0.87932	D	0	-45.3942	14.2396	0.65948	0.0:0.0:0.5185:0.4815	.	481	Q86Y38	XYLT1_HUMAN	W	481	ENSP00000261381:R481W	ENSP00000261381:R481W	R	-	1	2	XYLT1	17142657	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.523000	0.45580	1.451000	0.47736	0.555000	0.69702	CGG		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166	
NOMO2	283820	broad.mit.edu	37	16	18532101	18532101	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18532101G>T	ENST00000381474.3	-	19	2324	c.2259C>A	c.(2257-2259)ttC>ttA	p.F753L	NOMO2_ENST00000330537.6_Missense_Mutation_p.F753L|NOMO2_ENST00000543392.1_Missense_Mutation_p.F586L	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	753						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.F753L(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CCCAGTAAGAGAAATCATACG	0.478																																					p.F753L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2259A	16						.						22.0	22.0	22.0					16																	18532101		1543	3265	4808	18439602	SO:0001583	missense	283820	exon19			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2259C>A	16.37:g.18532101G>T	ENSP00000370883:p.Phe753Leu		18439602	NM_001004060	Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782391	0.31502	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04454	3.65;3.64;3.62	3.37	1.35	0.21983	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.66939	2.045	0.58432	D	0.999996	D;D	0.62365	0.988;0.991	P;P	0.56514	0.755;0.8	T	0.02781	-1.1111	10	0.48119	T	0.1	-27.9097	6.9528	0.24554	0.3487:0.0:0.6513:0.0	.	586;753	Q4G177;Q5JPE7	.;NOMO2_HUMAN	L	753;753;586	ENSP00000331851:F753L;ENSP00000370883:F753L;ENSP00000439970:F586L	ENSP00000331851:F753L	F	-	3	2	NOMO2	18439602	1.000000	0.71417	0.995000	0.50966	0.092000	0.18411	1.873000	0.39558	0.230000	0.21059	0.455000	0.32223	TTC		0.478	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060	
RPS15A	6210	broad.mit.edu	37	16	18796086	18796086	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18796086A>C	ENST00000565420.1	-	4	641	c.273T>G	c.(271-273)aaT>aaG	p.N91K	RPS15A_ENST00000322989.4_Missense_Mutation_p.N91K|RPS15A_ENST00000563390.1_Missense_Mutation_p.N91K|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000569083.1_Missense_Mutation_p.N91K|RPS15A_ENST00000576436.1_3'UTR			P62244	RS15A_HUMAN	ribosomal protein S15a	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.N91K(1)		endometrium(1)|large_intestine(1)	2						GAAGCAGATTATTCTGCCATT	0.388																																					p.N91K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T273G	16						.						121.0	126.0	124.0					16																	18796086		2197	4300	6497	18703587	SO:0001583	missense	6210	exon4			AB007154	CCDS10571.1	16p12.3	2011-04-05			ENSG00000134419	ENSG00000134419		"""S ribosomal proteins"""	10389	protein-coding gene	gene with protein product		603674				9582194	Standard	NM_001019		Approved	S15A	uc002dfi.1	P62244	OTTHUMG00000131365	ENST00000565420.1:c.273T>G	16.37:g.18796086A>C	ENSP00000458115:p.Asn91Lys		18703587	NM_001030009	P39027|P39031|Q3MHD9|Q8C023|Q9BV24	Missense_Mutation	SNP	ENST00000565420.1	37	CCDS10571.1	.	.	.	.	.	.	.	.	.	.	a	20.4	3.987824	0.74589	.	.	ENSG00000134419	ENST00000322989	.	.	.	4.69	-0.349	0.12609	.	0.000000	0.85682	U	0.000000	T	0.38348	0.1037	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.14023	0.01	T	0.10405	-1.0631	9	0.17832	T	0.49	.	9.6955	0.40154	0.4584:0.0:0.5416:0.0	.	91	P62244	RS15A_HUMAN	K	91	.	ENSP00000318646:N91K	N	-	3	2	RPS15A	18703587	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	1.648000	0.37271	-0.032000	0.13758	0.460000	0.39030	AAT		0.388	RPS15A-005	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435778.1	NM_001019	
ARL6IP1	23204	broad.mit.edu	37	16	18804691	18804691	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18804691C>A	ENST00000304414.7	-	6	706	c.495G>T	c.(493-495)gtG>gtT	p.V165V	RPS15A_ENST00000563390.1_5'Flank|ARL6IP1_ENST00000562819.1_Splice_Site_p.V50V|RP11-1035H13.3_ENST00000567078.2_Intron|ARL6IP1_ENST00000546206.2_Splice_Site_p.V136V	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	165					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)		p.V165V(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GTAAGGAAGTCACTTAAAATA	0.318																																					p.V165V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G495T	16						.						51.0	49.0	50.0					16																	18804691		2197	4300	6497	18712192	SO:0001630	splice_region_variant	23204	exon6			BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.494-1G>T	16.37:g.18804691C>A			18712192	NM_015161		Silent	SNP	ENST00000304414.7	37	CCDS10572.1																																																																																				0.318	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161	Silent
SMG1	23049	broad.mit.edu	37	16	18828749	18828749	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18828749C>T	ENST00000446231.2	-	57	10350	c.9938G>A	c.(9937-9939)cGa>cAa	p.R3313Q	SMG1_ENST00000389467.3_Missense_Mutation_p.R3314Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3313					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R3309Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTTCTTGTTCGTAAACTTTC	0.428																																					p.R3313Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9938A	16						.						67.0	59.0	61.0					16																	18828749		1864	4111	5975	18736250	SO:0001583	missense	23049	exon57			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9938G>A	16.37:g.18828749C>T	ENSP00000402515:p.Arg3313Gln		18736250	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036621	0.93630	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.02944	4.1;4.1	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000095	T	0.10337	0.0253	L	0.34521	1.04	0.50313	D	0.999869	D	0.69078	0.997	D	0.70227	0.968	T	0.03608	-1.1020	10	0.66056	D	0.02	.	20.0618	0.97678	0.0:1.0:0.0:0.0	.	3313	Q96Q15	SMG1_HUMAN	Q	3313;3314	ENSP00000402515:R3313Q;ENSP00000374118:R3314Q	ENSP00000374118:R3314Q	R	-	2	0	SMG1	18736250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.730000	0.93505	0.650000	0.86243	CGA		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18859302	18859302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18859302C>A	ENST00000446231.2	-	37	6089	c.5677G>T	c.(5677-5679)Gaa>Taa	p.E1893*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.E1893*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1893	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1889*(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACCAGCAATTCTTCTCCTTGA	0.373																																					p.E1893X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5677T	16						.						108.0	100.0	103.0					16																	18859302		1851	4095	5946	18766803	SO:0001587	stop_gained	23049	exon37			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5677G>T	16.37:g.18859302C>A	ENSP00000402515:p.Glu1893*		18766803	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	48	14.525903	0.99799	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.8622	0.96787	0.0:1.0:0.0:0.0	.	.	.	.	X	1893	.	ENSP00000374118:E1893X	E	-	1	0	SMG1	18766803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.498000	0.66931	2.695000	0.91970	0.491000	0.48974	GAA		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18881209	18881209	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:18881209C>T	ENST00000446231.2	-	19	3012	c.2600G>A	c.(2599-2601)aGt>aAt	p.S867N	snoU13_ENST00000459248.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S867N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	867	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S863N(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAAAATAAAACTAATAACATC	0.323																																					p.S867N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2600A	16						.						18.0	19.0	18.0					16																	18881209		1607	3582	5189	18788710	SO:0001583	missense	23049	exon19			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2600G>A	16.37:g.18881209C>T	ENSP00000402515:p.Ser867Asn		18788710	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671354	0.67814	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.64991	-0.13;-0.13	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.48677	0.1513	N	0.16903	0.455	0.35451	D	0.79567	P	0.37781	0.608	B	0.35413	0.202	T	0.55952	-0.8059	10	0.29301	T	0.29	.	19.7756	0.96391	0.0:1.0:0.0:0.0	.	867	Q96Q15	SMG1_HUMAN	N	867	ENSP00000402515:S867N;ENSP00000374118:S867N	ENSP00000374118:S867N	S	-	2	0	SMG1	18788710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.760000	0.68793	2.694000	0.91930	0.555000	0.69702	AGT		0.323	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
RPL3L	6123	broad.mit.edu	37	16	1995893	1995893	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:1995893G>A	ENST00000268661.7	-	8	1084	c.990C>T	c.(988-990)ttC>ttT	p.F330F	MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	330					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F330F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAGCATGACGAAGTCGTTGT	0.602																																					p.F330F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C990T	16						.						153.0	129.0	137.0					16																	1995893		2199	4300	6499	1935894	SO:0001819	synonymous_variant	6123	exon8			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.990C>T	16.37:g.1995893G>A			1935894	NM_005061		Silent	SNP	ENST00000268661.7	37	CCDS10450.1																																																																																				0.602	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061	
SYT17	51760	broad.mit.edu	37	16	19236089	19236089	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:19236089C>A	ENST00000355377.2	+	7	1555	c.1157C>A	c.(1156-1158)cCt>cAt	p.P386H	SYT17_ENST00000562711.2_Missense_Mutation_p.P382H|SYT17_ENST00000562034.1_Missense_Mutation_p.P325H|SYT17_ENST00000568115.1_Missense_Mutation_p.P325H|SYT17_ENST00000568433.1_Missense_Mutation_p.P80H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	386	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.P386H(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ACAATTGATCCTTTCTACAAT	0.428																																					p.P386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1157A	16						.						130.0	127.0	128.0					16																	19236089		2197	4300	6497	19143590	SO:0001583	missense	51760	exon7				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1157C>A	16.37:g.19236089C>A	ENSP00000347538:p.Pro386His		19143590	NM_016524	O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089074	0.94100	.	.	ENSG00000103528	ENST00000355377	D	0.91407	-2.84	5.29	5.29	0.74685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000008	D	0.97517	0.9187	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99184	1.0868	10	0.87932	D	0	.	18.9333	0.92576	0.0:1.0:0.0:0.0	.	386;325	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	386	ENSP00000347538:P386H	ENSP00000347538:P386H	P	+	2	0	SYT17	19143590	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.642000	0.74329	2.472000	0.83506	0.561000	0.74099	CCT		0.428	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524	
TMC5	79838	broad.mit.edu	37	16	19475304	19475304	+	Missense_Mutation	SNP	G	G	T	rs373261054		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:19475304G>T	ENST00000396229.2	+	8	2192	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	TMC5_ENST00000561503.1_Missense_Mutation_p.K122N|TMC5_ENST00000381414.4_Missense_Mutation_p.K481N|TMC5_ENST00000219821.5_Missense_Mutation_p.K235N|TMC5_ENST00000564959.1_Missense_Mutation_p.K164N|TMC5_ENST00000541464.1_Missense_Mutation_p.K481N|TMC5_ENST00000542583.2_Missense_Mutation_p.K481N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	481					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K481N(1)|p.K235N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCAAAAAGAACACCCTCC	0.478																																					p.K235N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G705T	16						.						97.0	89.0	92.0					16																	19475304		2197	4300	6497	19382805	SO:0001583	missense	79838	exon4			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1443G>T	16.37:g.19475304G>T	ENSP00000379531:p.Lys481Asn		19382805	NM_024780	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771450	0.16051	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.67	3.48	0.39840	.	0.411906	0.28409	N	0.015446	T	0.32406	0.0828	N	0.24115	0.695	0.35872	D	0.828277	B;B;B;B;B;B	0.13145	0.007;0.0;0.007;0.004;0.004;0.007	B;B;B;B;B;B	0.15484	0.013;0.001;0.009;0.004;0.006;0.009	T	0.24368	-1.0162	10	0.20046	T	0.44	-14.3048	6.3579	0.21412	0.1249:0.3609:0.5141:0.0	.	481;164;235;235;481;481	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	N	481;481;481;481;235;164	ENSP00000441227:K481N;ENSP00000370822:K481N;ENSP00000379531:K481N;ENSP00000446274:K481N;ENSP00000219821:K235N	ENSP00000219821:K235N	K	+	3	2	TMC5	19382805	0.998000	0.40836	0.908000	0.35775	0.214000	0.24535	1.505000	0.35736	1.371000	0.46172	0.637000	0.83480	AAG		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
CCP110	9738	broad.mit.edu	37	16	19548162	19548162	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:19548162A>C	ENST00000381396.5	+	4	1418	c.1171A>C	c.(1171-1173)Aat>Cat	p.N391H	CCP110_ENST00000396208.2_Missense_Mutation_p.N391H|CCP110_ENST00000396212.2_Missense_Mutation_p.N391H	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	391	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.N391H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TATACTTATAAATAACCCAAT	0.383																																					p.N391H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1171C	16						.						53.0	54.0	53.0					16																	19548162		2195	4299	6494	19455663	SO:0001583	missense	9738	exon5			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1171A>C	16.37:g.19548162A>C	ENSP00000370803:p.Asn391His		19455663	NM_014711	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907233	0.72868	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.18810	2.19;2.19;2.19	6.07	6.07	0.98685	.	0.122835	0.56097	D	0.000023	T	0.44705	0.1306	L	0.58101	1.795	0.39705	D	0.971247	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.40289	-0.9571	10	0.72032	D	0.01	-2.9911	16.6406	0.85098	1.0:0.0:0.0:0.0	.	391;391	O43303;O43303-2	CP110_HUMAN;.	H	391	ENSP00000379515:N391H;ENSP00000370803:N391H;ENSP00000379511:N391H	ENSP00000370803:N391H	N	+	1	0	CCP110	19455663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.778000	0.75043	2.326000	0.78906	0.533000	0.62120	AAT		0.383	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711	
C16orf62	57020	broad.mit.edu	37	16	19628082	19628082	+	Silent	SNP	G	G	A	rs200120905		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:19628082G>A	ENST00000251143.5	+	14	1188	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000438132.3_Silent_p.P481P|C16orf62_ENST00000543152.1_Silent_p.P141P|C16orf62_ENST00000448695.1_Silent_p.P242P			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	392						integral component of membrane (GO:0016021)		p.P392P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCTTGTACCCGCCTGCCATGG	0.567																																					p.P481P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1443A	16						.						119.0	94.0	102.0					16																	19628082		2197	4300	6497	19535583	SO:0001819	synonymous_variant	57020	exon14				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1176G>A	16.37:g.19628082G>A			19535583	NM_020314	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37																																																																																					0.567	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	C	T	rs142220504	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2035969C>T	ENST00000248114.6	+	3	564	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFER_ENST00000567719.1_Silent_p.F111F|GFER_ENST00000569451.1_3'UTR|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	186	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)	p.F186F(1)		endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	AGCCTGACTTCGACTGCTCAA	0.607													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21734	0.0		0.0	False		,,,				2504	0.0				p.F186F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558T	16						.						92.0	86.0	88.0					16																	2035969		2198	4300	6498	1975970	SO:0001819	synonymous_variant	2671	exon3			BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.558C>T	16.37:g.2035969C>T			1975970	NM_005262	Q53YM6|Q8TAH6|Q9H290|Q9UK40	Silent	SNP	ENST00000248114.6	37	CCDS32368.1																																																																																				0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262	
IQCK	124152	broad.mit.edu	37	16	19838450	19838450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:19838450G>T	ENST00000320394.6	+	9	1492	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	IQCK_ENST00000564186.1_Nonsense_Mutation_p.E265*|IQCK_ENST00000541926.1_Missense_Mutation_p.K236N|IQCK_ENST00000562762.1_3'UTR|IQCK_ENST00000433597.2_Nonsense_Mutation_p.E177*	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	265								p.E265*(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GGCCAAGCAAGAACAAAAAGG	0.453																																					p.E265X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G793T	16						.						89.0	85.0	86.0					16																	19838450		2197	4300	6497	19745951	SO:0001587	stop_gained	124152	exon9			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.793G>T	16.37:g.19838450G>T	ENSP00000324901:p.Glu265*		19745951	NM_153208	B2RDU0|O43327|Q8NFF4	Nonsense_Mutation	SNP	ENST00000320394.6	37	CCDS10580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.258790|10.258790	0.99370|0.99370	.|.	.|.	ENSG00000174628|ENSG00000174628	ENST00000320394;ENST00000433597|ENST00000541926	.|.	.|.	.|.	5.73|5.73	4.78|4.78	0.61160|0.61160	.|.	0.109437|.	0.41097|.	D|.	0.000958|.	.|T	.|0.67268	.|0.2875	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999995|0.999995	.|D	.|0.61080	.|0.989	.|P	.|0.55923	.|0.787	.|T	.|0.68644	.|-0.5354	.|6	.|.	.|.	.|.	-16.744|-16.744	12.7109|12.7109	0.57089|0.57089	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	.|236	.|B4DXE1	.|.	X|N	265;177|236	.|.	.|.	E|K	+|+	1|3	0|2	IQCK|IQCK	19745951|19745951	1.000000|1.000000	0.71417|0.71417	0.714000|0.714000	0.30535|0.30535	0.893000|0.893000	0.52053|0.52053	4.663000|4.663000	0.61532|0.61532	1.558000|1.558000	0.49541|0.49541	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.453	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	
GP2	2813	broad.mit.edu	37	16	20327320	20327320	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20327320C>T	ENST00000381362.4	-	10	1544	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	GP2_ENST00000302555.5_Missense_Mutation_p.D487N|GP2_ENST00000341642.5_Missense_Mutation_p.D340N|GP2_ENST00000381360.5_Missense_Mutation_p.D343N|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	490					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.D487N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGGGCTAGGTCGATGGCCGGT	0.468																																					p.D340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	16						.						116.0	108.0	111.0					16																	20327320		2203	4300	6503	20234821	SO:0001583	missense	2813	exon8			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1468G>A	16.37:g.20327320C>T	ENSP00000370767:p.Asp490Asn		20234821	NM_001007242	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252332	0.22880	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;T;D	0.90844	-2.73;-2.74;-1.49;-1.5	5.37	1.56	0.23342	.	.	.	.	.	T	0.80819	0.4696	N	0.20574	0.59	0.09310	N	1	B;B;B;B	0.28880	0.02;0.226;0.083;0.012	B;B;B;B	0.23150	0.018;0.044;0.025;0.012	T	0.68036	-0.5515	9	0.36615	T	0.2	-6.7779	8.0272	0.30444	0.0:0.6901:0.0:0.3099	.	340;468;487;490	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	N	487;490;343;340;468	ENSP00000304044:D487N;ENSP00000370767:D490N;ENSP00000370765:D343N;ENSP00000343861:D340N	ENSP00000304044:D487N	D	-	1	0	GP2	20234821	0.002000	0.14202	0.001000	0.08648	0.059000	0.15707	0.113000	0.15499	0.470000	0.27294	0.655000	0.94253	GAC		0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
PDILT	204474	broad.mit.edu	37	16	20371908	20371908	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20371908C>A	ENST00000302451.4	-	11	1736	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	496					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.K496N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CATCCTCAATCTTAGTTTTGA	0.448																																					p.K496N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1488T	16						.						240.0	217.0	225.0					16																	20371908		2203	4300	6503	20279409	SO:0001583	missense	204474	exon11				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1488G>T	16.37:g.20371908C>A	ENSP00000305465:p.Lys496Asn		20279409	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	7.971	0.749118	0.15710	.	.	ENSG00000169340	ENST00000302451	T	0.18810	2.19	4.58	-0.751	0.11076	Thioredoxin-like fold (1);	0.459264	0.24463	N	0.038311	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24368	-1.0162	10	0.29301	T	0.29	.	4.5146	0.11928	0.0:0.4271:0.3088:0.2641	.	496	Q8N807	PDILT_HUMAN	N	496	ENSP00000305465:K496N	ENSP00000305465:K496N	K	-	3	2	PDILT	20279409	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.146000	0.10250	-0.063000	0.13065	-0.756000	0.03474	AAG		0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
PDILT	204474	broad.mit.edu	37	16	20380861	20380861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20380861C>T	ENST00000302451.4	-	8	1317	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	357					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E357K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTGAGGCTTTCGTAGGTTATG	0.448																																					p.E357K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	16						.						174.0	174.0	174.0					16																	20380861		2203	4300	6503	20288362	SO:0001583	missense	204474	exon8				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1069G>A	16.37:g.20380861C>T	ENSP00000305465:p.Glu357Lys		20288362	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	6.518	0.463807	0.12402	.	.	ENSG00000169340	ENST00000302451	T	0.16743	2.32	4.89	-6.73	0.01749	Thioredoxin-like fold (1);	0.737812	0.13608	N	0.375360	T	0.07188	0.0182	L	0.28400	0.85	0.09310	N	1	B	0.26876	0.162	B	0.20955	0.032	T	0.21177	-1.0253	10	0.27785	T	0.31	.	2.4392	0.04490	0.1003:0.3331:0.1996:0.367	.	357	Q8N807	PDILT_HUMAN	K	357	ENSP00000305465:E357K	ENSP00000305465:E357K	E	-	1	0	PDILT	20288362	0.028000	0.19301	0.000000	0.03702	0.006000	0.05464	0.081000	0.14823	-1.390000	0.02087	-0.271000	0.10264	GAA		0.448	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
PDILT	204474	broad.mit.edu	37	16	20380984	20380984	+	Missense_Mutation	SNP	C	C	T	rs373943417		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20380984C>T	ENST00000302451.4	-	8	1194	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	316					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E316K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTCTGGGTTCGTCTGCATCC	0.473																																					p.E316K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946A	16						.	C	LYS/GLU	0,4406		0,0,2203	120.0	117.0	118.0		946	3.9	0.6	16		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDILT	NM_174924.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	316/585	20380984	1,13005	2203	4300	6503	20288485	SO:0001583	missense	204474	exon8				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.946G>A	16.37:g.20380984C>T	ENSP00000305465:p.Glu316Lys		20288485	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354199	0.41700	0.0	1.16E-4	ENSG00000169340	ENST00000302451	T	0.14266	2.52	4.9	3.94	0.45596	Thioredoxin-like fold (1);	0.150565	0.64402	D	0.000019	T	0.24812	0.0602	M	0.72894	2.215	0.19575	N	0.999969	D	0.58970	0.984	P	0.53912	0.737	T	0.13926	-1.0491	10	0.14656	T	0.56	.	12.9358	0.58313	0.0:0.8355:0.1645:0.0	.	316	Q8N807	PDILT_HUMAN	K	316	ENSP00000305465:E316K	ENSP00000305465:E316K	E	-	1	0	PDILT	20288485	1.000000	0.71417	0.554000	0.28268	0.031000	0.12232	3.002000	0.49496	1.258000	0.44101	0.563000	0.77884	GAA		0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
PDILT	204474	broad.mit.edu	37	16	20384349	20384349	+	Silent	SNP	G	G	T	rs145263436		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20384349G>T	ENST00000302451.4	-	6	1025	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	259					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.I259I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTTGTATTCGATCACAAAAT	0.443																																					p.I259I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777A	16						.						201.0	190.0	194.0					16																	20384349		2203	4300	6503	20291850	SO:0001819	synonymous_variant	204474	exon6				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.777C>A	16.37:g.20384349G>T			20291850	NM_174924	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ACSM5	54988	broad.mit.edu	37	16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A	rs369151501		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483																																					p.R456Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1367A	16						.	G	GLN/ARG	0,4406		0,0,2203	174.0	161.0	165.0		1367	3.2	1.0	16		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSM5	NM_017888.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	456/580	20448432	1,13005	2203	4300	6503	20355933	SO:0001583	missense	54988	exon11				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1367G>A	16.37:g.20448432G>A	ENSP00000327916:p.Arg456Gln		20355933	NM_017888	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516257	0.64634	0.0	1.16E-4	ENSG00000183549	ENST00000331849	T	0.41758	0.99	5.15	3.19	0.36642	AMP-dependent synthetase/ligase (1);	0.274583	0.25509	N	0.030197	T	0.36771	0.0979	L	0.61387	1.9	0.32960	D	0.52096	P	0.48589	0.912	B	0.37508	0.252	T	0.55704	-0.8099	10	0.62326	D	0.03	-4.7894	10.8795	0.46929	0.156:0.0:0.844:0.0	.	456	Q6NUN0	ACSM5_HUMAN	Q	456	ENSP00000327916:R456Q	ENSP00000327916:R456Q	R	+	2	0	ACSM5	20355933	1.000000	0.71417	0.966000	0.40874	0.950000	0.60333	4.238000	0.58688	0.682000	0.31407	0.650000	0.86243	CGA		0.483	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
ACSM1	116285	broad.mit.edu	37	16	20682957	20682957	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20682957C>A	ENST00000307493.4	-	4	715	c.648G>T	c.(646-648)aaG>aaT	p.K216N	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.K216N	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	216					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K216N(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTCCAAGGTCTTTGACTTAA	0.483																																					p.K216N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G648T	16						.						136.0	115.0	122.0					16																	20682957		2201	4300	6501	20590458	SO:0001583	missense	116285	exon4			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.648G>T	16.37:g.20682957C>A	ENSP00000301956:p.Lys216Asn		20590458	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447597	0.43429	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.48836	0.8;0.8	5.19	3.08	0.35506	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000076	T	0.55593	0.1930	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.55036	-0.8203	10	0.51188	T	0.08	.	9.2215	0.37379	0.0:0.8074:0.0:0.1926	.	216	Q08AH1	ACSM1_HUMAN	N	216	ENSP00000301956:K216N;ENSP00000428047:K216N	ENSP00000301956:K216N	K	-	3	2	ACSM1	20590458	0.818000	0.29161	0.908000	0.35775	0.639000	0.38242	0.590000	0.23954	1.378000	0.46305	0.603000	0.83216	AAG		0.483	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
ACSM1	116285	broad.mit.edu	37	16	20702428	20702428	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20702428C>T	ENST00000307493.4	-	1	150	c.83G>A	c.(82-84)cGc>cAc	p.R28H	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R28H	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	28					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R28H(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGACCGGCAGCGCAGCTGTGA	0.502																																					p.R28H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	16						.						137.0	146.0	143.0					16																	20702428		2201	4300	6501	20609929	SO:0001583	missense	116285	exon1			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.83G>A	16.37:g.20702428C>T	ENSP00000301956:p.Arg28His		20609929	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	7.668	0.686318	0.14973	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.44083	0.93;0.93;1.5	4.69	-9.38	0.00623	.	1.924530	0.02462	N	0.086648	T	0.14657	0.0354	N	0.02011	-0.69	0.21984	N	0.999439	B	0.09022	0.002	B	0.04013	0.001	T	0.16571	-1.0398	10	0.33940	T	0.23	.	6.3504	0.21373	0.3663:0.1401:0.0:0.4936	.	28	Q08AH1	ACSM1_HUMAN	H	28	ENSP00000301956:R28H;ENSP00000428047:R28H;ENSP00000428830:R28H	ENSP00000301956:R28H	R	-	2	0	ACSM1	20609929	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.891000	0.01611	-1.660000	0.01486	0.502000	0.49764	CGC		0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
ACSM3	6296	broad.mit.edu	37	16	20792297	20792297	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20792297T>C	ENST00000289416.5	+	6	1259	c.784T>C	c.(784-786)Ttc>Ctc	p.F262L	ACSM3_ENST00000450120.2_Splice_Site_p.F254L|ACSM3_ENST00000440284.2_Splice_Site_p.F262L|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	262					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.F262L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTTTCCCAGGTTCTGGCTAGA	0.433																																					p.F262L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T784C	16						.						147.0	146.0	146.0					16																	20792297		2201	4300	6501	20699798	SO:0001630	splice_region_variant	6296	exon6			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.783-1T>C	16.37:g.20792297T>C			20699798	NM_005622	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845898	0.71603	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.41065	1.01;1.01;1.01	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.131156	0.52532	D	0.000068	T	0.30198	0.0757	N	0.13003	0.285	0.80722	D	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.11329	0.004;0.004;0.006	T	0.05257	-1.0896	10	0.45353	T	0.12	-13.7894	16.2108	0.82158	0.0:0.0:0.0:1.0	.	254;262;262	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	L	262;262;254	ENSP00000289416:F262L;ENSP00000394565:F262L;ENSP00000395297:F254L	ENSP00000289416:F262L	F	+	1	0	ACSM3	20699798	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.454000	0.73493	2.232000	0.73038	0.533000	0.62120	TTC		0.433	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	Missense_Mutation
DNAH3	55567	broad.mit.edu	37	16	20975762	20975762	+	Silent	SNP	T	T	C	rs373572000		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20975762T>C	ENST00000261383.3	-	53	9443	c.9444A>G	c.(9442-9444)aaA>aaG	p.K3148K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3148	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.K3148K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCTTGCTGTTTGAATGTTG	0.433																																					p.K3148K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A9444G	16						.	T		0,4402		0,0,2201	179.0	173.0	175.0		9444	-0.5	1.0	16		175	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	CC,CT,TT		0.0116,0.0,0.0077		3148/4117	20975762	1,13001	2201	4300	6501	20883263	SO:0001819	synonymous_variant	55567	exon53			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9444A>G	16.37:g.20975762T>C			20883263	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	20999096	20999096	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:20999096C>T	ENST00000261383.3	-	46	6800	c.6801G>A	c.(6799-6801)tcG>tcA	p.S2267S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2267	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S2267S(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGTGACTTCGAGGGAGTTG	0.493																																					p.S2267S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6801A	16						.						127.0	106.0	113.0					16																	20999096		2201	4300	6501	20906597	SO:0001819	synonymous_variant	55567	exon46			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6801G>A	16.37:g.20999096C>T			20906597	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21031063	21031063	+	Missense_Mutation	SNP	C	C	T	rs142809716	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21031063C>T	ENST00000261383.3	-	41	5904	c.5905G>A	c.(5905-5907)Gca>Aca	p.A1969T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1969					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A1969T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTGTCTGCGTTGATGGTG	0.468													C|||	4	0.000798722	0.0	0.0	5008	,	,		19204	0.004		0.0	False		,,,				2504	0.0				p.A1969T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5905A	16						.						151.0	135.0	140.0					16																	21031063		2201	4300	6501	20938564	SO:0001583	missense	55567	exon41			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5905G>A	16.37:g.21031063C>T	ENSP00000261383:p.Ala1969Thr		20938564	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.774	0.327208	0.10900	.	.	ENSG00000158486	ENST00000261383	T	0.25749	1.78	5.73	-2.03	0.07365	.	0.930262	0.09054	N	0.855342	T	0.09598	0.0236	N	0.13198	0.31	0.09310	N	1	B	0.30511	0.282	B	0.12156	0.007	T	0.32745	-0.9895	10	0.12103	T	0.63	.	4.3564	0.11181	0.419:0.3017:0.0:0.2793	.	1969	Q8TD57	DYH3_HUMAN	T	1969	ENSP00000261383:A1969T	ENSP00000261383:A1969T	A	-	1	0	DNAH3	20938564	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	0.852000	0.27764	-0.342000	0.08363	-0.318000	0.08688	GCA		0.468	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21080894	21080894	+	Missense_Mutation	SNP	G	G	A	rs541368919	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21080894G>A	ENST00000261383.3	-	23	3222	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1075C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1075	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1075C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGTATGCGAATTAGCTTT	0.458													G|||	2	0.000399361	0.0	0.0	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.002				p.R1075C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3223T	16						.						168.0	126.0	140.0					16																	21080894		2201	4300	6501	20988395	SO:0001583	missense	55567	exon23			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3223C>T	16.37:g.21080894G>A	ENSP00000261383:p.Arg1075Cys		20988395	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521152	0.27211	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62232	0.04;0.04	5.4	4.38	0.52667	Dynein heavy chain, domain-2 (1);	0.726956	0.12981	N	0.423277	T	0.67571	0.2907	M	0.61703	1.905	0.09310	N	0.999999	D	0.71674	0.998	P	0.56916	0.809	T	0.59920	-0.7363	10	0.49607	T	0.09	.	5.2981	0.15764	0.0831:0.1449:0.6224:0.1496	.	1075	Q8TD57	DYH3_HUMAN	C	1075	ENSP00000261383:R1075C;ENSP00000394245:R1075C	ENSP00000261383:R1075C	R	-	1	0	DNAH3	20988395	0.019000	0.18553	0.931000	0.37212	0.665000	0.39181	1.662000	0.37418	2.696000	0.92011	0.655000	0.94253	CGC		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21086837	21086837	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21086837C>A	ENST00000261383.3	-	21	3014	c.3015G>T	c.(3013-3015)gaG>gaT	p.E1005D	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1005D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1005	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E1005D(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAGTTTTTCTCCAGAGAGT	0.478																																					p.E1005D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3015T	16						.						114.0	101.0	106.0					16																	21086837		2201	4300	6501	20994338	SO:0001583	missense	55567	exon21			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3015G>T	16.37:g.21086837C>A	ENSP00000261383:p.Glu1005Asp		20994338	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	33	5.275851	0.95459	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.67865	-0.29;-0.29	5.93	5.93	0.95920	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90201	0.4257	10	0.87932	D	0	.	20.3324	0.98724	0.0:1.0:0.0:0.0	.	1005	Q8TD57	DYH3_HUMAN	D	1005	ENSP00000261383:E1005D;ENSP00000394245:E1005D	ENSP00000261383:E1005D	E	-	3	2	DNAH3	20994338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.838000	0.55828	2.799000	0.96334	0.650000	0.86243	GAG		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21128594	21128594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21128594C>A	ENST00000261383.3	-	12	1743	c.1744G>T	c.(1744-1746)Gaa>Taa	p.E582*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E582*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	582	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E582*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAAGTTTTTCTTCTGCGTTA	0.368																																					p.E582X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1744T	16						.						74.0	71.0	72.0					16																	21128594		2200	4299	6499	21036095	SO:0001587	stop_gained	55567	exon12			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1744G>T	16.37:g.21128594C>A	ENSP00000261383:p.Glu582*		21036095	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820759	0.90873	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.9245	0.88979	0.0:1.0:0.0:0.0	.	.	.	.	X	582;582;522	.	ENSP00000261383:E582X	E	-	1	0	DNAH3	21036095	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	5.322000	0.65852	2.512000	0.84698	0.655000	0.94253	GAA		0.368	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ZP2	7783	broad.mit.edu	37	16	21210907	21210907	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21210907G>T	ENST00000574002.1	-	17	2393	c.1911C>A	c.(1909-1911)tcC>tcA	p.S637S	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.S637S|ZP2_ENST00000574091.1_Silent_p.S628S			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	637	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.S637S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGTGCCTAGAGGACACAGGGC	0.443																																					p.S637S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1911A	16						.						105.0	103.0	103.0					16																	21210907		2200	4300	6500	21118408	SO:0001819	synonymous_variant	7783	exon16			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1911C>A	16.37:g.21210907G>T			21118408	NM_003460	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	CCDS10596.1																																																																																				0.443	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
MLST8	64223	broad.mit.edu	37	16	2256574	2256574	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2256574G>T	ENST00000569417.1	+	4	612	c.258G>T	c.(256-258)aaG>aaT	p.K86N	MLST8_ENST00000565250.1_Missense_Mutation_p.K86N|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000382450.4_Missense_Mutation_p.K85N|MLST8_ENST00000564088.1_Missense_Mutation_p.K86N|MLST8_ENST00000397124.1_Missense_Mutation_p.K86N|MLST8_ENST00000301724.10_Missense_Mutation_p.K86N|MLST8_ENST00000301725.7_Missense_Mutation_p.K105N|AC009065.3_ENST00000517149.1_RNA	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	86					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K86N(3)		large_intestine(3)|lung(2)|skin(1)	6						GCGTCAACAAGAACATCGCGT	0.582																																					p.K86N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G258T	16						.						180.0	183.0	182.0					16																	2256574		2092	4213	6305	2196575	SO:0001583	missense	64223	exon4				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.258G>T	16.37:g.2256574G>T	ENSP00000456405:p.Lys86Asn		2196575	NM_001199174	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663049	0.67700	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.59906	0.23;0.23;0.23	4.33	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	N	0.21282	0.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.999;0.981	D;D;D;P	0.85130	0.997;0.978;0.974;0.772	T	0.50285	-0.8846	10	0.15066	T	0.55	-44.8314	10.5966	0.45341	0.0953:0.0:0.9047:0.0	.	86;105;20;86	B4E2R3;Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;.;LST8_HUMAN	N	86;86;86;105	ENSP00000301724:K86N;ENSP00000380313:K86N;ENSP00000301725:K105N	ENSP00000301724:K86N	K	+	3	2	MLST8	2196575	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.556000	0.60775	1.038000	0.40049	0.561000	0.74099	AAG		0.582	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372	
OTOA	146183	broad.mit.edu	37	16	21716511	21716511	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:21716511C>A	ENST00000286149.4	+	11	1045	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	OTOA_ENST00000388958.3_Missense_Mutation_p.F334L|OTOA_ENST00000388956.4_Missense_Mutation_p.F255L|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388957.3_Missense_Mutation_p.F10L			Q7RTW8	OTOAN_HUMAN	otoancorin	348					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.F334L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGTTTGTTTCTACAATGACC	0.522																																					p.F334L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1002A	16						.						102.0	96.0	98.0					16																	21716511		2199	4300	6499	21624012	SO:0001583	missense	146183	exon11			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1044C>A	16.37:g.21716511C>A	ENSP00000286149:p.Phe348Leu		21624012	NM_144672	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	C	22.5	4.293481	0.80914	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.77750	3.61;-1.12;3.61;-1.12	5.3	4.35	0.52113	.	0.057100	0.64402	D	0.000001	D	0.83848	0.5343	M	0.66939	2.045	0.45239	D	0.998243	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	D	0.83441	0.0043	10	0.52906	T	0.07	-24.9819	7.1459	0.25583	0.0:0.8155:0.0:0.1845	.	255;10;334	B3KWU3;Q7RTW8-2;E9PF51	.;.;.	L	334;348;255;10	ENSP00000373610:F334L;ENSP00000286149:F348L;ENSP00000373608:F255L;ENSP00000373609:F10L	ENSP00000286149:F348L	F	+	3	2	OTOA	21624012	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.359000	0.44142	2.480000	0.83734	0.561000	0.74099	TTC		0.522	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
VWA3A	146177	broad.mit.edu	37	16	22152970	22152970	+	Missense_Mutation	SNP	G	G	T	rs377058854		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:22152970G>T	ENST00000389398.5	+	24	2547	c.2451G>T	c.(2449-2451)gaG>gaT	p.E817D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	817						extracellular region (GO:0005576)		p.E817D(1)|p.E13D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGGAAGCAGAGACATCTCTTT	0.532																																					p.E817D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2451T	16						.						81.0	88.0	86.0					16																	22152970		2009	4176	6185	22060471	SO:0001583	missense	146177	exon24			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2451G>T	16.37:g.22152970G>T	ENSP00000374049:p.Glu817Asp		22060471	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128583	0.37533	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.12569	2.67	5.32	2.08	0.27032	.	0.743246	0.12943	N	0.426431	T	0.12944	0.0314	L	0.56769	1.78	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.28618	-1.0038	10	0.33141	T	0.24	.	5.651	0.17616	0.1829:0.2182:0.599:0.0	.	817	A6NCI4	VWA3A_HUMAN	D	817;440	ENSP00000374049:E817D	ENSP00000299840:E440D	E	+	3	2	VWA3A	22060471	0.978000	0.34361	0.001000	0.08648	0.275000	0.26752	1.885000	0.39678	0.237000	0.21200	0.655000	0.94253	GAG		0.532	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
EEF2K	29904	broad.mit.edu	37	16	22277769	22277769	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:22277769C>T	ENST00000263026.5	+	14	1973	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	500					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.S500L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CCGAGGGCTTCGGCCGTGGCC	0.572																																					p.S500L	NSCLC(195;1411 2157 20319 27471 51856)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1499T	16						.						122.0	130.0	127.0					16																	22277769		2197	4300	6497	22185270	SO:0001583	missense	29904	exon14			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1499C>T	16.37:g.22277769C>T	ENSP00000263026:p.Ser500Leu		22185270	NM_013302	Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431753	0.96150	.	.	ENSG00000103319	ENST00000263026	T	0.11277	2.79	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.00231	-1.1896	10	0.87932	D	0	-11.1176	20.5568	0.99304	0.0:1.0:0.0:0.0	.	500	O00418	EF2K_HUMAN	L	500	ENSP00000263026:S500L	ENSP00000263026:S500L	S	+	2	0	EEF2K	22185270	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	6.715000	0.74697	2.861000	0.98227	0.655000	0.94253	TCG		0.572	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302	
CDR2	1039	broad.mit.edu	37	16	22358682	22358682	+	Silent	SNP	G	G	A	rs201108991	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:22358682G>A	ENST00000268383.2	-	5	1276	c.969C>T	c.(967-969)atC>atT	p.I323I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	323						cytoplasm (GO:0005737)		p.I323I(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GGCCCTTCACGATGTCACTCC	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21096	0.0069		0.001	False		,,,				2504	0.001				p.I323I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C969T	16						.						74.0	56.0	62.0					16																	22358682		2197	4300	6497	22266183	SO:0001819	synonymous_variant	1039	exon5			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.969C>T	16.37:g.22358682G>A			22266183	NM_001802	A8K8A8|Q13977	Silent	SNP	ENST00000268383.2	37	CCDS32404.1																																																																																				0.577	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1		
ABCA3	21	broad.mit.edu	37	16	2336751	2336751	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2336751G>T	ENST00000301732.5	-	22	3922	c.3222C>A	c.(3220-3222)gtC>gtA	p.V1074V	ABCA3_ENST00000382381.3_Silent_p.V1016V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1074					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.V1074V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGAAGTTGGAGACCACAATGG	0.632																																					p.V1074V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3222A	16						.						106.0	108.0	107.0					16																	2336751		2198	4300	6498	2276752	SO:0001819	synonymous_variant	21	exon22			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3222C>A	16.37:g.2336751G>T			2276752	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																				0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
CDR2	1039	broad.mit.edu	37	16	22376229	22376229	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:22376229T>G	ENST00000268383.2	-	2	493	c.186A>C	c.(184-186)gaA>gaC	p.E62D	RP11-21M24.3_ENST00000566764.1_RNA|CDR2_ENST00000569045.1_5'Flank	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	62						cytoplasm (GO:0005737)		p.E62D(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTACCTCAATTTCCTGTAACT	0.423																																					p.E62D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A186C	16						.						165.0	130.0	142.0					16																	22376229		2197	4300	6497	22283730	SO:0001583	missense	1039	exon2			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.186A>C	16.37:g.22376229T>G	ENSP00000268383:p.Glu62Asp		22283730	NM_001802	A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458510	0.84317	.	.	ENSG00000140743	ENST00000268383	T	0.30182	1.54	5.78	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.83774	2.66	0.51482	D	0.999926	D	0.89917	1.0	D	0.83275	0.996	T	0.59043	-0.7528	10	0.52906	T	0.07	-14.7143	10.315	0.43732	0.0:0.1308:0.0:0.8692	.	62	Q01850	CDR2_HUMAN	D	62	ENSP00000268383:E62D	ENSP00000268383:E62D	E	-	3	2	CDR2	22283730	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	0.909000	0.28558	2.212000	0.71576	0.260000	0.18958	GAA		0.423	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1		
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2358456G>A	ENST00000301732.5	-	11	1980	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_ENST00000382381.3_Intron	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	427					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A427V(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CTCACCTTTCGCCTCAAATTT	0.557																																					p.A427V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1280T	16						.						103.0	86.0	92.0					16																	2358456		2198	4300	6498	2298457	SO:0001583	missense	21	exon11			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1280C>T	16.37:g.2358456G>A	ENSP00000301732:p.Ala427Val		2298457	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738516	0.15574	.	.	ENSG00000167972	ENST00000301732	T	0.74632	-0.86	5.65	3.59	0.41128	.	.	.	.	.	T	0.61850	0.2380	L	0.53780	1.695	0.80722	D	1	B;B	0.32829	0.386;0.386	B;B	0.22753	0.041;0.041	T	0.56625	-0.7948	9	0.20046	T	0.44	.	8.2688	0.31831	0.0863:0.2912:0.6225:0.0	.	427;427	A7MBM9;Q99758	.;ABCA3_HUMAN	V	427	ENSP00000301732:A427V	ENSP00000301732:A427V	A	-	2	0	ABCA3	2298457	1.000000	0.71417	0.042000	0.18584	0.005000	0.04900	6.126000	0.71635	1.389000	0.46526	0.650000	0.86243	GCG		0.557	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
HS3ST2	9956	broad.mit.edu	37	16	22926878	22926878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:22926878G>T	ENST00000261374.3	+	2	1533	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	367					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.E367*(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CTTCAGGTGGGAATAAGCCCA	0.468																																					p.E367X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1099T	16						.						83.0	94.0	90.0					16																	22926878		2193	4298	6491	22834379	SO:0001587	stop_gained	9956	exon2			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.1099G>T	16.37:g.22926878G>T	ENSP00000261374:p.Glu367*		22834379	NM_006043	Q52LZ1	Nonsense_Mutation	SNP	ENST00000261374.3	37	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	G	39	7.319073	0.98210	.	.	ENSG00000122254	ENST00000261374	.	.	.	5.2	5.2	0.72013	.	0.052749	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.7604	0.88463	0.0:0.0:1.0:0.0	.	.	.	.	X	367	.	ENSP00000261374:E367X	E	+	1	0	HS3ST2	22834379	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	9.869000	0.99810	2.423000	0.82170	0.561000	0.74099	GAA		0.468	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043	
USP31	57478	broad.mit.edu	37	16	23079661	23079661	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23079661A>C	ENST00000219689.7	-	16	3764	c.3765T>G	c.(3763-3765)ggT>ggG	p.G1255G	USP31_ENST00000567975.1_Silent_p.G548G	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.G1255G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAGAGCTCCCACCAGCCTTTT	0.552																																					p.G1255G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3765G	16						.						155.0	162.0	160.0					16																	23079661		2197	4300	6497	22987162	SO:0001819	synonymous_variant	57478	exon16			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3765T>G	16.37:g.23079661A>C			22987162	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	CCDS10607.1																																																																																				0.552	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
ABCA3	21	broad.mit.edu	37	16	2369687	2369687	+	Silent	SNP	G	G	A	rs138445429	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2369687G>A	ENST00000301732.5	-	8	1468	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ABCA3_ENST00000382381.3_Silent_p.L256L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	256					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L256L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGATGGCCACGAGGAAGGGGT	0.622													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.001				p.L256L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C768T	16						.	G		1,4395	2.1+/-5.4	0,1,2197	117.0	99.0	105.0		768	-9.9	0.0	16	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	ABCA3	NM_001089.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		256/1705	2369687	1,12995	2198	4300	6498	2309688	SO:0001819	synonymous_variant	21	exon8			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.768C>T	16.37:g.2369687G>A			2309688	NM_001089	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																				0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	
USP31	57478	broad.mit.edu	37	16	23085117	23085117	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23085117G>A	ENST00000219689.7	-	14	2260	c.2261C>T	c.(2260-2262)aCg>aTg	p.T754M	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	410	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.T754M(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TGCTGTCTGCGTGCAGACCTC	0.567																																					p.T754M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C2261T	16						.						95.0	80.0	85.0					16																	23085117		2197	4300	6497	22992618	SO:0001583	missense	57478	exon14			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2261C>T	16.37:g.23085117G>A	ENSP00000219689:p.Thr754Met		22992618	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520350	0.85495	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.32515	1.45	5.91	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.287517	0.32204	N	0.006428	T	0.48077	0.1480	M	0.69248	2.105	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.58620	0.754;0.842	T	0.48198	-0.9056	10	0.87932	D	0	-13.1122	13.5546	0.61751	0.0:0.0:0.7889:0.2111	.	57;754	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	M	754;57	ENSP00000219689:T754M	ENSP00000219689:T754M	T	-	2	0	USP31	22992618	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.329000	0.65892	2.793000	0.96121	0.655000	0.94253	ACG		0.567	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
SCNN1G	6340	broad.mit.edu	37	16	23226541	23226541	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23226541G>T	ENST00000300061.2	+	13	1844	c.1701G>T	c.(1699-1701)caG>caT	p.Q567H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	567					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.Q567H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCAGTGGCAGAAAGCCAAGG	0.572																																					p.Q567H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1701T	16						.						90.0	86.0	88.0					16																	23226541		2197	4300	6497	23134042	SO:0001583	missense	6340	exon13			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1701G>T	16.37:g.23226541G>T	ENSP00000300061:p.Gln567His		23134042	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727631	0.15439	.	.	ENSG00000166828	ENST00000300061	T	0.71934	-0.61	5.22	2.09	0.27110	.	0.360247	0.27720	N	0.018121	T	0.49064	0.1535	N	0.08118	0	0.31361	N	0.681329	B	0.09022	0.002	B	0.04013	0.001	T	0.35201	-0.9798	10	0.15066	T	0.55	-13.64	16.3143	0.82909	0.0:0.5454:0.4546:0.0	.	567	P51170	SCNNG_HUMAN	H	567	ENSP00000300061:Q567H	ENSP00000300061:Q567H	Q	+	3	2	SCNN1G	23134042	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	0.272000	0.18644	0.172000	0.19760	0.561000	0.74099	CAG		0.572	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
SCNN1B	6338	broad.mit.edu	37	16	23364139	23364139	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23364139A>G	ENST00000343070.2	+	3	505	c.329A>G	c.(328-330)cAt>cGt	p.H110R	SCNN1B_ENST00000568085.1_Missense_Mutation_p.H110R|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568923.1_Missense_Mutation_p.H110R|SCNN1B_ENST00000307331.5_Missense_Mutation_p.H155R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	110					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.H110R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AAAATCAAGCATTTGCTGAAG	0.507																																					p.H110R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A329G	16						.						91.0	86.0	88.0					16																	23364139		2197	4300	6497	23271640	SO:0001583	missense	6338	exon3			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.329A>G	16.37:g.23364139A>G	ENSP00000345751:p.His110Arg		23271640	NM_000336	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729789	0.48833	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.61274	0.12;0.12	4.86	1.03	0.20045	.	1.090280	0.07247	N	0.865273	T	0.65312	0.2679	L	0.56769	1.78	0.25039	N	0.991216	P	0.50819	0.939	P	0.52386	0.697	T	0.57717	-0.7763	10	0.23891	T	0.37	-13.0357	14.6534	0.68814	0.3097:0.6903:0.0:0.0	.	110	P51168	SCNNB_HUMAN	R	110;155	ENSP00000345751:H110R;ENSP00000302874:H155R	ENSP00000302874:H155R	H	+	2	0	SCNN1B	23271640	0.037000	0.19845	0.190000	0.23270	0.978000	0.69477	0.237000	0.17985	-0.119000	0.11830	0.379000	0.24179	CAT		0.507	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
COG7	91949	broad.mit.edu	37	16	23415069	23415069	+	Silent	SNP	G	G	A	rs370272896		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23415069G>A	ENST00000307149.5	-	13	1934	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	583					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.F583F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ACACGGAATCGAAAGCCAGCT	0.522																																					p.F583F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1749T	16						.	G		1,4393	2.1+/-5.4	0,1,2196	91.0	81.0	84.0		1749	-2.4	0.8	16		84	0,8600		0,0,4300	no	coding-synonymous	COG7	NM_153603.3		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		583/771	23415069	1,12993	2197	4300	6497	23322570	SO:0001819	synonymous_variant	91949	exon13			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1749C>T	16.37:g.23415069G>A			23322570	NM_153603	Q6UWU7	Silent	SNP	ENST00000307149.5	37	CCDS10610.1																																																																																				0.522	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
COG7	91949	broad.mit.edu	37	16	23417447	23417447	+	Missense_Mutation	SNP	C	C	A	rs34221967		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23417447C>A	ENST00000307149.5	-	12	1797	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	538					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.D538Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GCAGGGTTATCTTTCTGGAGG	0.433																																					p.D538Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612T	16						.						126.0	131.0	129.0					16																	23417447		2197	4300	6497	23324948	SO:0001583	missense	91949	exon12			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1612G>T	16.37:g.23417447C>A	ENSP00000305442:p.Asp538Tyr		23324948	NM_153603	Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503740	0.85176	.	.	ENSG00000168434	ENST00000307149	T	0.44083	0.93	5.7	5.7	0.88788	.	0.318953	0.38720	N	0.001586	T	0.40815	0.1132	N	0.08118	0	0.53005	D	0.999961	P	0.38110	0.618	P	0.49999	0.628	T	0.49031	-0.8981	10	0.62326	D	0.03	-5.0329	18.8293	0.92132	0.0:1.0:0.0:0.0	.	538	P83436	COG7_HUMAN	Y	538	ENSP00000305442:D538Y	ENSP00000305442:D538Y	D	-	1	0	COG7	23324948	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	4.761000	0.62243	2.683000	0.91414	0.655000	0.94253	GAT		0.433	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1		
PALB2	79728	broad.mit.edu	37	16	23641217	23641217	+	Missense_Mutation	SNP	C	C	T	rs587778586		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23641217C>T	ENST00000261584.4	-	5	2410	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	753					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R753Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GCAGCAAGTTCGTCCAGCAAC	0.478			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.R753Q		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2258A	16						.						133.0	117.0	123.0					16																	23641217		2197	4300	6497	23548718	SO:0001583	missense	79728	exon5				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2258G>A	16.37:g.23641217C>T	ENSP00000261584:p.Arg753Gln		23548718	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450621	0.26074	.	.	ENSG00000083093	ENST00000261584	T	0.13538	2.58	5.96	-10.8	0.00216	.	1.369690	0.04520	N	0.384426	T	0.03827	0.0108	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	10	0.22109	T	0.4	10.777	4.6724	0.12696	0.0793:0.3386:0.3719:0.2103	.	753	Q86YC2	PALB2_HUMAN	Q	753	ENSP00000261584:R753Q	ENSP00000261584:R753Q	R	-	2	0	PALB2	23548718	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.683000	0.01934	-2.391000	0.00586	-1.851000	0.00568	CGA		0.478	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
PALB2	79728	broad.mit.edu	37	16	23647326	23647326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23647326C>A	ENST00000261584.4	-	4	693	c.541G>T	c.(541-543)Gaa>Taa	p.E181*		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	181	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E181*(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTACTGATTTCTTCCTGTTCC	0.393			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.E181X		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G541T	16						.						170.0	169.0	169.0					16																	23647326		2197	4300	6497	23554827	SO:0001587	stop_gained	79728	exon4				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.541G>T	16.37:g.23647326C>A	ENSP00000261584:p.Glu181*		23554827	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Nonsense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598508	0.28445	.	.	ENSG00000083093	ENST00000261584	.	.	.	6.08	-4.98	0.03019	.	1.767130	0.02504	N	0.090832	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	0.0245	0.4083	0.00437	0.2763:0.1912:0.1468:0.3856	.	.	.	.	X	181	.	ENSP00000261584:E181X	E	-	1	0	PALB2	23554827	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.883000	0.04170	-0.580000	0.05944	0.591000	0.81541	GAA		0.393	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
PALB2	79728	broad.mit.edu	37	16	23649442	23649442	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23649442C>A	ENST00000261584.4	-	2	209	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	19	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E19D(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ATGCTAATTTCTCCTTTAACT	0.433			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.E19D		yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G57T	16						.						126.0	118.0	121.0					16																	23649442		2197	4300	6497	23556943	SO:0001583	missense	79728	exon2				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.57G>T	16.37:g.23649442C>A	ENSP00000261584:p.Glu19Asp		23556943	NM_024675	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247518	0.95305	.	.	ENSG00000083093	ENST00000261584	T	0.19806	2.12	5.5	2.02	0.26589	.	0.086631	0.49916	D	0.000123	T	0.36826	0.0981	M	0.72118	2.19	0.29525	N	0.853171	D	0.64830	0.994	P	0.61800	0.894	T	0.27571	-1.0070	10	0.87932	D	0	-16.086	7.8399	0.29393	0.0:0.2589:0.0:0.7411	.	19	Q86YC2	PALB2_HUMAN	D	19	ENSP00000261584:E19D	ENSP00000261584:E19D	E	-	3	2	PALB2	23556943	0.997000	0.39634	0.999000	0.59377	0.979000	0.70002	0.282000	0.18829	0.072000	0.16694	-0.302000	0.09304	GAG		0.433	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
PLK1	5347	broad.mit.edu	37	16	23691502	23691502	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23691502G>A	ENST00000300093.4	+	2	617	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R169Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TACCTGCACCGAAACCGAGTT	0.537																																					p.R169Q	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	16						.						129.0	111.0	117.0					16																	23691502		2197	4300	6497	23599003	SO:0001583	missense	5347	exon2				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.506G>A	16.37:g.23691502G>A	ENSP00000300093:p.Arg169Gln		23599003	NM_005030	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	6.642	0.486961	0.12641	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.24350	1.86	5.51	2.05	0.26809	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.364346	0.32161	N	0.006485	T	0.13243	0.0321	N	0.20357	0.565	0.23762	N	0.996917	B	0.09022	0.002	B	0.06405	0.002	T	0.30534	-0.9975	10	0.10902	T	0.67	-1.3396	9.8284	0.40925	0.2694:0.0:0.7306:0.0	.	169	P53350	PLK1_HUMAN	Q	169;72;169	ENSP00000300093:R169Q	ENSP00000300093:R169Q	R	+	2	0	PLK1	23599003	0.098000	0.21812	0.799000	0.32177	0.929000	0.56500	1.182000	0.32029	0.705000	0.31890	-0.263000	0.10527	CGA		0.537	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
PLK1	5347	broad.mit.edu	37	16	23695351	23695351	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:23695351C>T	ENST00000300093.4	+	5	1088	c.977C>T	c.(976-978)tCg>tTg	p.S326L		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	326					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.S326L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCAAGGTTTTCGATTGCTCCC	0.547																																					p.S326L	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C977T	16						.						133.0	137.0	136.0					16																	23695351		2197	4300	6497	23602852	SO:0001583	missense	5347	exon5				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.977C>T	16.37:g.23695351C>T	ENSP00000300093:p.Ser326Leu		23602852	NM_005030	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947513	0.73672	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.22539	1.95	5.28	5.28	0.74379	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	M	0.70595	2.14	0.80722	D	1	P	0.39520	0.676	B	0.27170	0.077	T	0.08086	-1.0739	10	0.48119	T	0.1	-9.6738	16.7603	0.85510	0.0:1.0:0.0:0.0	.	326	P53350	PLK1_HUMAN	L	326;229	ENSP00000300093:S326L	ENSP00000300093:S326L	S	+	2	0	PLK1	23602852	1.000000	0.71417	0.919000	0.36401	0.898000	0.52572	7.169000	0.77578	2.620000	0.88729	0.655000	0.94253	TCG		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
PRKCB	5579	broad.mit.edu	37	16	24135258	24135258	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24135258G>A	ENST00000321728.7	+	9	1196	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	PRKCB_ENST00000303531.7_Missense_Mutation_p.D341N	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	341					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D341N(6)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAAACTGACCGATTTTAACTT	0.483																																					p.D341N												.	.	6	Substitution - Missense(6)	liver(4)|large_intestine(2)	c.G1021A	16						.						194.0	185.0	188.0					16																	24135258		2197	4300	6497	24042759	SO:0001583	missense	5579	exon9			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1021G>A	16.37:g.24135258G>A	ENSP00000318315:p.Asp341Asn		24042759	NM_212535	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681390	0.88542	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.25414	1.8;1.8	4.92	4.92	0.64577	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.894;0.839	T	0.53662	-0.8407	10	0.48119	T	0.1	.	17.2875	0.87146	0.0:0.0:1.0:0.0	.	341;341	P05771-2;P05771	.;KPCB_HUMAN	N	341	ENSP00000318315:D341N;ENSP00000305355:D341N	ENSP00000305355:D341N	D	+	1	0	PRKCB	24042759	1.000000	0.71417	0.821000	0.32701	0.912000	0.54170	9.040000	0.93783	2.562000	0.86427	0.563000	0.77884	GAT		0.483	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
CACNG3	10368	broad.mit.edu	37	16	24268258	24268258	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24268258G>T	ENST00000005284.3	+	1	1385	c.183G>T	c.(181-183)tcG>tcT	p.S61S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	61					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.S61S(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGACCCATTCGGGGCTGTGGA	0.448																																					p.S61S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G183T	16						.						96.0	91.0	93.0					16																	24268258		2197	4300	6497	24175759	SO:0001819	synonymous_variant	10368	exon1			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.183G>T	16.37:g.24268258G>T			24175759	NM_006539		Silent	SNP	ENST00000005284.3	37	CCDS10620.1																																																																																				0.448	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
CACNG3	10368	broad.mit.edu	37	16	24372887	24372887	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24372887G>T	ENST00000005284.3	+	4	1853	c.651G>T	c.(649-651)aaG>aaT	p.K217N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	217					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.K217N(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTTCCTGAAGAAATCTACTT	0.517																																					p.K217N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G651T	16						.						104.0	97.0	99.0					16																	24372887		2197	4300	6497	24280388	SO:0001583	missense	10368	exon4			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.651G>T	16.37:g.24372887G>T	ENSP00000005284:p.Lys217Asn		24280388	NM_006539		Missense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534618	0.64972	.	.	ENSG00000006116	ENST00000005284	T	0.60299	0.2	4.82	4.82	0.62117	.	0.051997	0.85682	D	0.000000	T	0.55909	0.1950	M	0.66939	2.045	0.51012	D	0.999904	P	0.44627	0.839	B	0.36134	0.218	T	0.66452	-0.5920	10	0.66056	D	0.02	-17.4537	17.5421	0.87851	0.0:0.0:1.0:0.0	.	217	O60359	CCG3_HUMAN	N	217	ENSP00000005284:K217N	ENSP00000005284:K217N	K	+	3	2	CACNG3	24280388	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.442000	0.97566	2.204000	0.70986	0.561000	0.74099	AAG		0.517	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
RBBP6	5930	broad.mit.edu	37	16	24578481	24578481	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24578481G>A	ENST00000319715.4	+	15	2039	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.R536Q|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	536					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R536Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AACCGTGGGCGACACCACAGC	0.438																																					p.R536Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1607A	16						.						126.0	121.0	123.0					16																	24578481		2197	4300	6497	24485982	SO:0001583	missense	5930	exon15				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1607G>A	16.37:g.24578481G>A	ENSP00000317872:p.Arg536Gln		24485982	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333866	0.60853	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.16597	2.33;2.41	5.8	5.8	0.92144	.	0.000000	0.46145	D	0.000313	T	0.31358	0.0794	L	0.27053	0.805	0.47308	D	0.999384	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.01452	-1.1351	10	0.32370	T	0.25	-9.2581	20.0522	0.97631	0.0:0.0:1.0:0.0	.	536;536	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	Q	536	ENSP00000317872:R536Q;ENSP00000316291:R536Q	ENSP00000317872:R536Q	R	+	2	0	RBBP6	24485982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.066000	0.71185	2.737000	0.93849	0.563000	0.77884	CGA		0.438	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
RBBP6	5930	broad.mit.edu	37	16	24578770	24578770	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24578770A>T	ENST00000319715.4	+	15	2328	c.1896A>T	c.(1894-1896)caA>caT	p.Q632H	RBBP6_ENST00000348022.2_Missense_Mutation_p.Q632H|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	632					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q632H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAACAACACAAGCACCACCTT	0.413																																					p.Q632H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1896T	16						.						150.0	153.0	152.0					16																	24578770		2197	4300	6497	24486271	SO:0001583	missense	5930	exon15				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1896A>T	16.37:g.24578770A>T	ENSP00000317872:p.Gln632His		24486271	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737959	0.30774	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.16324	2.39;2.35	5.74	4.64	0.57946	.	0.200483	0.35615	N	0.003097	T	0.19604	0.0471	N	0.19112	0.55	0.30121	N	0.805728	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.04090	-1.0978	10	0.56958	D	0.05	-22.1074	8.1759	0.31281	0.7846:0.0:0.2154:0.0	.	632;632	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	H	632	ENSP00000317872:Q632H;ENSP00000316291:Q632H	ENSP00000317872:Q632H	Q	+	3	2	RBBP6	24486271	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.065000	0.30592	0.989000	0.38761	0.460000	0.39030	CAA		0.413	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
RBBP6	5930	broad.mit.edu	37	16	24581196	24581196	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24581196C>T	ENST00000319715.4	+	17	3617	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	RBBP6_ENST00000348022.2_Missense_Mutation_p.A1028V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1062	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1062V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTAAAAAAGCCAAAGAGGAG	0.393																																					p.A1028V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3083T	16						.						52.0	53.0	53.0					16																	24581196		2195	4300	6495	24488697	SO:0001583	missense	5930	exon16				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3185C>T	16.37:g.24581196C>T	ENSP00000317872:p.Ala1062Val		24488697	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533236	0.45073	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.12879	2.64;2.67	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000021	T	0.07773	0.0195	N	0.12182	0.205	0.30443	N	0.776004	B;B	0.13594	0.008;0.005	B;B	0.17722	0.019;0.008	T	0.12502	-1.0545	10	0.26408	T	0.33	-9.7983	9.34	0.38074	0.0:0.7999:0.0:0.2001	.	1028;1062	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1062;1028	ENSP00000317872:A1062V;ENSP00000316291:A1028V	ENSP00000317872:A1062V	A	+	2	0	RBBP6	24488697	0.312000	0.24545	1.000000	0.80357	0.999000	0.98932	0.424000	0.21330	2.578000	0.87016	0.655000	0.94253	GCC		0.393	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
RBBP6	5930	broad.mit.edu	37	16	24582702	24582702	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24582702A>C	ENST00000319715.4	+	18	4747	c.4315A>C	c.(4315-4317)Aat>Cat	p.N1439H	RBBP6_ENST00000348022.2_Missense_Mutation_p.N1405H|RBBP6_ENST00000381039.3_Missense_Mutation_p.N599H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1439	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N1439H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGAACAAGGAAATTTTAAAAG	0.403																																					p.N1405H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4213C	16						.						75.0	73.0	74.0					16																	24582702		2197	4300	6497	24490203	SO:0001583	missense	5930	exon17				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4315A>C	16.37:g.24582702A>C	ENSP00000317872:p.Asn1439His		24490203	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	6.711	0.499959	0.12762	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.19394	2.15;2.42;2.42	5.52	3.23	0.37069	.	0.269330	0.31624	N	0.007332	T	0.10895	0.0266	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.30149	-0.9988	10	0.23302	T	0.38	-3.1263	8.4113	0.32644	0.7938:0.1368:0.0694:0.0	.	599;1405;1439	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	H	599;1439;1405	ENSP00000370427:N599H;ENSP00000317872:N1439H;ENSP00000316291:N1405H	ENSP00000317872:N1439H	N	+	1	0	RBBP6	24490203	0.979000	0.34478	0.189000	0.23252	0.961000	0.63080	2.523000	0.45580	0.451000	0.26802	0.460000	0.39030	AAT		0.403	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
TNRC6A	27327	broad.mit.edu	37	16	24788388	24788388	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24788388C>A	ENST00000395799.3	+	5	427	c.298C>A	c.(298-300)Caa>Aaa	p.Q100K	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q100K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	100	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q100K(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagcagcagcaacagcagca	0.597																																					p.Q100K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298A	16						.						21.0	30.0	27.0					16																	24788388		2113	4201	6314	24695889	SO:0001583	missense	27327	exon5			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.298C>A	16.37:g.24788388C>A	ENSP00000379144:p.Gln100Lys		24695889	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	8.150	0.787114	0.16189	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13778	2.58;2.56	3.27	3.27	0.37495	.	0.000000	0.44902	D	0.000404	T	0.07999	0.0200	N	0.14661	0.345	0.49483	D	0.999792	B	0.06786	0.001	B	0.06405	0.002	T	0.17077	-1.0381	10	0.41790	T	0.15	0.6279	10.304	0.43670	0.0:1.0:0.0:0.0	.	100	Q8NDV7	TNR6A_HUMAN	K	100	ENSP00000326900:Q100K;ENSP00000379144:Q100K	ENSP00000326900:Q100K	Q	+	1	0	TNRC6A	24695889	0.971000	0.33674	0.192000	0.23308	0.364000	0.29643	0.878000	0.28126	2.137000	0.66172	0.591000	0.81541	CAA		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNRC6A	27327	broad.mit.edu	37	16	24820776	24820776	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24820776C>A	ENST00000395799.3	+	18	4775	c.4646C>A	c.(4645-4647)tCt>tAt	p.S1549Y	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1500Y|TNRC6A_ENST00000432286.2_Missense_Mutation_p.S27Y|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1549					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1549Y(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTGAACACATCTTTGGATCAA	0.353																																					p.S1549Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4646A	16						.						88.0	88.0	88.0					16																	24820776		2197	4300	6497	24728277	SO:0001583	missense	27327	exon18			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4646C>A	16.37:g.24820776C>A	ENSP00000379144:p.Ser1549Tyr		24728277	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753176	0.89753	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.13420	2.6;2.59	5.39	5.39	0.77823	.	0.131903	0.53938	D	0.000056	T	0.27866	0.0686	L	0.61218	1.895	0.46396	D	0.999025	D;P;D;D	0.67145	0.983;0.932;0.994;0.996	P;P;P;P	0.57776	0.804;0.61;0.827;0.804	T	0.05886	-1.0858	10	0.06891	T	0.86	-7.6618	19.164	0.93546	0.0:1.0:0.0:0.0	.	216;688;1500;1549	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	Y	1500;1549;27	ENSP00000326900:S1500Y;ENSP00000379144:S1549Y	ENSP00000326900:S1500Y	S	+	2	0	TNRC6A	24728277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.721000	0.68477	2.528000	0.85240	0.591000	0.81541	TCT		0.353	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNRC6A	27327	broad.mit.edu	37	16	24831490	24831490	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24831490C>T	ENST00000395799.3	+	22	5240	c.5111C>T	c.(5110-5112)tCt>tTt	p.S1704F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1655F|TNRC6A_ENST00000432286.2_Missense_Mutation_p.S182F|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1704	Sufficient for interaction with AGO2.			S -> F (in Ref. 8; BAA91899). {ECO:0000305}.	cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S1704F(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTGACATGGTCTCCTGGTTCA	0.463																																					p.S1704F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5111T	16						.						110.0	104.0	106.0					16																	24831490		2197	4300	6497	24738991	SO:0001583	missense	27327	exon22			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5111C>T	16.37:g.24831490C>T	ENSP00000379144:p.Ser1704Phe		24738991	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.015907	0.93404	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.22336	1.97;1.96	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.50650	0.1628	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.986	T	0.49952	-0.8884	10	0.87932	D	0	-7.7175	20.04	0.97581	0.0:1.0:0.0:0.0	.	1655;1704	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	F	1655;1704;182	ENSP00000326900:S1655F;ENSP00000379144:S1704F	ENSP00000326900:S1655F	S	+	2	0	TNRC6A	24738991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.733000	0.93635	0.655000	0.94253	TCT		0.463	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNRC6A	27327	broad.mit.edu	37	16	24835001	24835001	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24835001C>T	ENST00000395799.3	+	25	5891	c.5762C>T	c.(5761-5763)aCc>aTc	p.T1921I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.T1872I|TNRC6A_ENST00000432286.2_Missense_Mutation_p.T399I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1921	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T1921I(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTCTGGGGGACCCCGCATTAT	0.567																																					p.T1921I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5762T	16						.						80.0	85.0	84.0					16																	24835001		2197	4300	6497	24742502	SO:0001583	missense	27327	exon25			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5762C>T	16.37:g.24835001C>T	ENSP00000379144:p.Thr1921Ile		24742502	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	c	9.497	1.102316	0.20632	.	.	ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286	T;T	0.12039	2.73;2.72	5.64	5.64	0.86602	.	0.091008	0.47852	D	0.000205	T	0.10723	0.0262	N	0.22421	0.69	0.34408	D	0.696044	B;B	0.30763	0.078;0.294	B;B	0.24974	0.04;0.057	T	0.14643	-1.0465	10	0.45353	T	0.12	-5.3831	15.5283	0.75928	0.0:0.8231:0.1769:0.0	.	1872;1921	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	I	1872;1921;399	ENSP00000326900:T1872I;ENSP00000379144:T1921I	ENSP00000326900:T1872I	T	+	2	0	TNRC6A	24742502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.777000	0.47717	2.638000	0.89438	0.651000	0.88453	ACC		0.567	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
SLC5A11	115584	broad.mit.edu	37	16	24918051	24918051	+	Missense_Mutation	SNP	G	G	A	rs540504136	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24918051G>A	ENST00000569071.1	+	9	947	c.682G>A	c.(682-684)Gta>Ata	p.V228I	SLC5A11_ENST00000545376.1_Silent_p.A290A|SLC5A11_ENST00000568579.1_Silent_p.A290A|SLC5A11_ENST00000424767.2_Silent_p.A325A|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V228I|SLC5A11_ENST00000347898.3_Silent_p.A360A|SLC5A11_ENST00000567758.1_Silent_p.A325A|SLC5A11_ENST00000565769.1_Silent_p.A296A|SLC5A11_ENST00000539472.1_Silent_p.A296A					solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A360A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGGACATCGCGTATCCCAAAC	0.557											OREG0023688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0008	0.0	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.001				p.A360A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1080A	16						.						100.0	82.0	88.0					16																	24918051		2197	4300	6497	24825552	SO:0001583	missense	115584	exon11			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000569071.1:c.682G>A	16.37:g.24918051G>A	ENSP00000456376:p.Val228Ile	775	24825552	NM_052944		Silent	SNP	ENST00000569071.1	37	CCDS58440.1	.	.	.	.	.	.	.	.	.	.	G	6.871	0.530144	0.13127	.	.	ENSG00000158865	ENST00000449109	D	0.83837	-1.77	5.73	-11.5	0.00074	.	.	.	.	.	T	0.68256	0.2981	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.52902	-0.8513	8	0.72032	D	0.01	.	5.1958	0.15236	0.5403:0.2625:0.1222:0.075	.	228	Q05BF1	.	I	228	ENSP00000389606:V228I	ENSP00000389606:V228I	V	+	1	0	SLC5A11	24825552	0.000000	0.05858	0.006000	0.13384	0.950000	0.60333	-4.503000	0.00224	-3.768000	0.00109	-1.087000	0.02190	GTA		0.557	SLC5A11-006	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435852.1	NM_052944	
ARHGAP17	55114	broad.mit.edu	37	16	24950862	24950862	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:24950862C>A	ENST00000289968.6	-	17	1616	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	516					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.R516I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TATGTGCTTTCTATTTAGAGT	0.597																																					p.R516I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1547T	16						.						26.0	27.0	27.0					16																	24950862		2195	4299	6494	24858363	SO:0001583	missense	55114	exon17			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1547G>T	16.37:g.24950862C>A	ENSP00000289968:p.Arg516Ile		24858363	NM_001006634	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054396	0.75960	.	.	ENSG00000140750	ENST00000289968;ENST00000455311	T	0.26067	1.76	5.0	5.0	0.66597	.	0.000000	0.48767	D	0.000175	T	0.47875	0.1469	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.862;0.999	T	0.43278	-0.9401	10	0.62326	D	0.03	.	15.8573	0.78989	0.0:1.0:0.0:0.0	.	516;49	Q68EM7;Q68EM7-7	RHG17_HUMAN;.	I	516	ENSP00000289968:R516I	ENSP00000289968:R516I	R	-	2	0	ARHGAP17	24858363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.623000	0.61247	2.595000	0.87683	0.655000	0.94253	AGA		0.597	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054	
AQP8	343	broad.mit.edu	37	16	25232799	25232799	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:25232799G>A	ENST00000219660.5	+	3	407	c.282G>A	c.(280-282)gcG>gcA	p.A94A	AQP8_ENST00000566125.1_Silent_p.A88A	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	94					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.A94A(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TCAACCCTGCGGTGTCCCTGG	0.622																																					p.A94A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G282A	16						.						112.0	93.0	99.0					16																	25232799		2197	4300	6497	25140300	SO:0001819	synonymous_variant	343	exon3			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.282G>A	16.37:g.25232799G>A			25140300	NM_001169	Q8IUU3|Q9UIA4	Silent	SNP	ENST00000219660.5	37	CCDS10626.1																																																																																				0.622	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169	
HS3ST4	9951	broad.mit.edu	37	16	26146948	26146948	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:26146948G>T	ENST00000331351.5	+	2	1142	c.750G>T	c.(748-750)aaG>aaT	p.K250N	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	250					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.K250N(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGATGCCCAAGACTTTGGATG	0.423																																					p.K250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	16						.						66.0	61.0	63.0					16																	26146948		1568	3582	5150	26054449	SO:0001583	missense	9951	exon2			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.750G>T	16.37:g.26146948G>T	ENSP00000330606:p.Lys250Asn		26054449	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125234	0.20959	.	.	ENSG00000182601	ENST00000331351	T	0.81415	-1.49	5.32	4.36	0.52297	Sulfotransferase domain (1);	0.278391	0.27901	U	0.017386	T	0.78515	0.4295	L	0.37697	1.125	0.37125	D	0.900971	P	0.51653	0.947	P	0.51101	0.659	T	0.79783	-0.1658	10	0.34782	T	0.22	.	12.9595	0.58449	0.0786:0.0:0.9214:0.0	.	250	Q9Y661	HS3S4_HUMAN	N	250	ENSP00000330606:K250N	ENSP00000330606:K250N	K	+	3	2	HS3ST4	26054449	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	1.507000	0.35758	1.233000	0.43693	0.561000	0.74099	AAG		0.423	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
C16orf82	162083	broad.mit.edu	37	16	27078589	27078589	+	lincRNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27078589C>T	ENST00000505035.1	+	0	562				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		GCAGCGGGTACGCAGGGGACA	0.637																																					p.Y91Y												.	.	0			c.C273T	16						.						20.0	28.0	25.0					16																	27078589		2189	4291	6480	26986090			0	exon1			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078589C>T			26986090	NM_001145545	B9EGC2|Q8NEF0	IGR	SNP	ENST00000505035.1	37																																																																																					0.637	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545	
NSMCE1	197370	broad.mit.edu	37	16	27236549	27236549	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27236549C>T	ENST00000361439.4	-	8	829	c.730G>A	c.(730-732)Gac>Aac	p.D244N	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	244					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D244N(1)		endometrium(2)|large_intestine(2)|lung(3)	7						TTCTCAGGGTCGAAGACTTCT	0.582																																					p.D244N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	16						.						43.0	46.0	45.0					16																	27236549		1968	4171	6139	27144050	SO:0001583	missense	197370	exon8			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.730G>A	16.37:g.27236549C>T	ENSP00000355077:p.Asp244Asn		27144050	NM_145080	D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505221	0.26949	.	.	ENSG00000169189	ENST00000361439	D	0.81579	-1.51	3.98	-0.66	0.11421	.	0.737404	0.13513	N	0.382376	T	0.63165	0.2488	L	0.27053	0.805	0.22591	N	0.998959	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	10	0.18710	T	0.47	.	6.8149	0.23824	0.0:0.5232:0.0:0.4768	.	244	Q8WV22	NSE1_HUMAN	N	244	ENSP00000355077:D244N	ENSP00000355077:D244N	D	-	1	0	NSMCE1	27144050	0.950000	0.32346	0.996000	0.52242	0.833000	0.47200	-0.258000	0.08733	-0.063000	0.13065	-0.258000	0.10820	GAC		0.582	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080	
IL21R	50615	broad.mit.edu	37	16	27460002	27460002	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27460002G>A	ENST00000337929.3	+	9	1488	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	IL21R_ENST00000395754.4_Missense_Mutation_p.E339K|IL21R_ENST00000395755.1_Missense_Mutation_p.E339K|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.E339K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	339					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.E339K(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGAACCAGCAGAGCTGGTGGA	0.652			T	BCL6	NHL																																p.E361K			Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081A	16						.						33.0	34.0	34.0					16																	27460002		2197	4299	6496	27367503	SO:0001583	missense	50615	exon10			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1015G>A	16.37:g.27460002G>A	ENSP00000338010:p.Glu339Lys		27367503	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309665	0.23821	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.32753	1.44;1.44;1.44	5.24	4.29	0.51040	.	2.544920	0.01112	N	0.005587	T	0.26085	0.0636	L	0.29908	0.895	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.31280	-0.9949	10	0.11182	T	0.66	-7.3687	9.5641	0.39387	0.0961:0.0:0.9039:0.0	.	339	Q9HBE5	IL21R_HUMAN	K	339	ENSP00000338010:E339K;ENSP00000379104:E339K;ENSP00000379103:E339K	ENSP00000338010:E339K	E	+	1	0	IL21R	27367503	0.003000	0.15002	0.002000	0.10522	0.037000	0.13140	1.292000	0.33342	1.210000	0.43336	0.561000	0.74099	GAG		0.652	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
SRRM2	23524	broad.mit.edu	37	16	2813312	2813312	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2813312G>T	ENST00000301740.8	+	11	3332	c.2783G>T	c.(2782-2784)aGa>aTa	p.R928I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	928	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R928I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAAGACAAAGAAGCCATTCT	0.498																																					p.R928I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2783T	16						.						81.0	75.0	77.0					16																	2813312		2198	4300	6498	2753313	SO:0001583	missense	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2783G>T	16.37:g.2813312G>T	ENSP00000301740:p.Arg928Ile		2753313	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.467932	0.01053	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27256	1.68	2.19	1.22	0.21188	.	0.780174	0.10772	N	0.635909	T	0.19127	0.0459	L	0.48642	1.525	0.09310	N	1	B	0.18968	0.032	B	0.04013	0.001	T	0.28808	-1.0032	10	0.54805	T	0.06	0.7523	2.7353	0.05238	0.1652:0.0:0.5557:0.2791	.	928	Q9UQ35	SRRM2_HUMAN	I	928;928;180;893	ENSP00000301740:R928I	ENSP00000301740:R928I	R	+	2	0	SRRM2	2753313	0.002000	0.14202	0.053000	0.19242	0.129000	0.20672	0.046000	0.14035	0.486000	0.27676	0.655000	0.94253	AGA		0.498	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2813979	2813979	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2813979G>A	ENST00000301740.8	+	11	3999	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1150	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S1150S(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTGGACTCGAATTCTCTCT	0.478																																					p.S1150S												.	.	2	Substitution - coding silent(2)	urinary_tract(1)|large_intestine(1)	c.G3450A	16						.						88.0	93.0	91.0					16																	2813979		2198	4300	6498	2753980	SO:0001819	synonymous_variant	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3450G>A	16.37:g.2813979G>A			2753980	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.478	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2814964	2814964	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2814964G>A	ENST00000301740.8	+	11	4984	c.4435G>A	c.(4435-4437)Gaa>Aaa	p.E1479K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1479	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.E1479K(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGGAGAAGCGAATGTGATTC	0.532																																					p.E1479K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4435A	16						.						99.0	100.0	100.0					16																	2814964		2198	4300	6498	2754965	SO:0001583	missense	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4435G>A	16.37:g.2814964G>A	ENSP00000301740:p.Glu1479Lys		2754965	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381486	0.42207	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26957	1.7	6.06	6.06	0.98353	.	0.092720	0.47455	D	0.000222	T	0.14570	0.0352	N	0.22421	0.69	0.34454	D	0.701004	P	0.47545	0.897	B	0.32864	0.154	T	0.20706	-1.0267	10	0.15952	T	0.53	-13.4045	16.1209	0.81357	0.0:0.0:1.0:0.0	.	1479	Q9UQ35	SRRM2_HUMAN	K	1479;1479;731	ENSP00000301740:E1479K	ENSP00000301740:E1479K	E	+	1	0	SRRM2	2754965	0.995000	0.38212	1.000000	0.80357	0.891000	0.51852	2.528000	0.45624	2.882000	0.98803	0.655000	0.94253	GAA		0.532	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2816536	2816536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2816536C>T	ENST00000301740.8	+	11	6556	c.6007C>T	c.(6007-6009)Cga>Tga	p.R2003*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2003	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2003*(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGTAACTCGAAGAAGGTC	0.567																																					p.R2003X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6007T	16						.						74.0	78.0	76.0					16																	2816536		2198	4300	6498	2756537	SO:0001587	stop_gained	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6007C>T	16.37:g.2816536C>T	ENSP00000301740:p.Arg2003*		2756537	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	47	13.450001	0.99743	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.46	4.48	0.54585	.	0.000000	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0401	6.8786	0.24160	0.1759:0.7362:0.0:0.0879	.	.	.	.	X	2003;2003;1255	.	ENSP00000301740:R2003X	R	+	1	2	SRRM2	2756537	0.662000	0.27439	0.893000	0.35052	0.998000	0.95712	1.700000	0.37815	1.265000	0.44215	0.650000	0.86243	CGA		0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SRRM2	23524	broad.mit.edu	37	16	2817975	2817975	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2817975G>A	ENST00000301740.8	+	11	7995	c.7446G>A	c.(7444-7446)acG>acA	p.T2482T	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2482	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.T2482T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTGGCAACGACCACGTCCT	0.607																																					p.T2482T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7446A	16						.						116.0	97.0	104.0					16																	2817975		2198	4300	6498	2757976	SO:0001819	synonymous_variant	23524	exon11			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7446G>A	16.37:g.2817975G>A			2757976	NM_016333	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.607	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
GTF3C1	2975	broad.mit.edu	37	16	27476025	27476025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27476025C>A	ENST00000356183.4	-	34	5503	c.5488G>T	c.(5488-5490)Gaa>Taa	p.E1830*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.E1830*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1830					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E1830*(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGGGTCTTCTCTCTGGATG	0.677																																					p.E1830X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5488T	16						.						24.0	30.0	28.0					16																	27476025		2109	4157	6266	27383526	SO:0001587	stop_gained	2975	exon34			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5488G>T	16.37:g.27476025C>A	ENSP00000348510:p.Glu1830*		27383526	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	43	10.351171	0.99389	.	.	ENSG00000077235	ENST00000356183	.	.	.	4.78	3.82	0.43975	.	0.683858	0.13798	N	0.362020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.1553	11.5907	0.50943	0.179:0.821:0.0:0.0	.	.	.	.	X	1830	.	ENSP00000348510:E1830X	E	-	1	0	GTF3C1	27383526	0.003000	0.15002	0.023000	0.16930	0.076000	0.17211	1.193000	0.32162	1.013000	0.39391	0.561000	0.74099	GAA		0.677	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
KIAA0556	23247	broad.mit.edu	37	16	27760973	27760973	+	Missense_Mutation	SNP	G	G	A	rs376515834		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27760973G>A	ENST00000261588.4	+	16	2711	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	898						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E898K(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CACACTTCACGAGTCATGGAG	0.617																																					p.E898K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2692A	16						.	G	LYS/GLU	0,4394		0,0,2197	90.0	85.0	86.0		2692	4.7	0.6	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0556	NM_015202.2	56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	898/1619	27760973	1,12993	2197	4300	6497	27668474	SO:0001583	missense	23247	exon16			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2692G>A	16.37:g.27760973G>A	ENSP00000261588:p.Glu898Lys		27668474	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396253	0.96009	0.0	1.16E-4	ENSG00000047578	ENST00000261588	T	0.13420	2.59	4.7	4.7	0.59300	.	0.057872	0.64402	D	0.000003	T	0.27384	0.0672	L	0.58101	1.795	0.43435	D	0.995605	D	0.61080	0.989	P	0.53490	0.727	T	0.01889	-1.1253	10	0.54805	T	0.06	0.0125	17.6464	0.88149	0.0:0.0:1.0:0.0	.	898	O60303	K0556_HUMAN	K	898	ENSP00000261588:E898K	ENSP00000261588:E898K	E	+	1	0	KIAA0556	27668474	1.000000	0.71417	0.603000	0.28903	0.961000	0.63080	7.057000	0.76669	2.320000	0.78422	0.655000	0.94253	GAG		0.617	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
KIAA0556	23247	broad.mit.edu	37	16	27761525	27761525	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27761525C>T	ENST00000261588.4	+	16	3263	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1082						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1082W(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAATAAATCTCGGATACATTC	0.542																																					p.R1082W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3244T	16						.						96.0	92.0	94.0					16																	27761525		2197	4300	6497	27669026	SO:0001583	missense	23247	exon16			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3244C>T	16.37:g.27761525C>T	ENSP00000261588:p.Arg1082Trp		27669026	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737340	0.69304	.	.	ENSG00000047578	ENST00000261588	T	0.13420	2.59	5.32	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.89353	3.025	0.51233	D	0.999911	D	0.89917	1.0	D	0.97110	1.0	T	0.50617	-0.8807	10	0.87932	D	0	-11.4923	13.1792	0.59645	0.4185:0.5815:0.0:0.0	.	1082	O60303	K0556_HUMAN	W	1082	ENSP00000261588:R1082W	ENSP00000261588:R1082W	R	+	1	2	KIAA0556	27669026	0.990000	0.36364	0.369000	0.25952	0.961000	0.63080	2.889000	0.48601	0.678000	0.31325	0.655000	0.94253	CGG		0.542	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
KIAA0556	23247	broad.mit.edu	37	16	27788279	27788279	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27788279C>T	ENST00000261588.4	+	25	4499	c.4480C>T	c.(4480-4482)Cct>Tct	p.P1494S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1494						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P1494S(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTTCGATCTGCCTACCACCGT	0.483																																					p.P1494S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4480T	16						.						228.0	222.0	224.0					16																	27788279		2197	4300	6497	27695780	SO:0001583	missense	23247	exon25			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4480C>T	16.37:g.27788279C>T	ENSP00000261588:p.Pro1494Ser		27695780	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975559	0.92919	.	.	ENSG00000047578	ENST00000261588	T	0.24908	1.83	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	M	0.89715	3.055	0.58432	D	0.999999	D	0.69078	0.997	D	0.66847	0.947	T	0.67369	-0.5688	10	0.54805	T	0.06	-7.1154	18.3127	0.90206	0.0:1.0:0.0:0.0	.	1494	O60303	K0556_HUMAN	S	1494	ENSP00000261588:P1494S	ENSP00000261588:P1494S	P	+	1	0	KIAA0556	27695780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.505000	0.81655	2.409000	0.81822	0.561000	0.74099	CCT		0.483	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
KIAA0556	23247	broad.mit.edu	37	16	27789942	27789942	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27789942C>T	ENST00000261588.4	+	28	4868	c.4849C>T	c.(4849-4851)Cgc>Tgc	p.R1617C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1617	Poly-Arg.					extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1617C(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGACGACGGCGCTGCTGACT	0.597																																					p.R1617C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4849T	16						.						123.0	108.0	113.0					16																	27789942		2197	4300	6497	27697443	SO:0001583	missense	23247	exon28			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.4849C>T	16.37:g.27789942C>T	ENSP00000261588:p.Arg1617Cys		27697443	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060028	0.55325	.	.	ENSG00000047578	ENST00000261588	T	0.12879	2.64	4.6	2.37	0.29283	.	0.000000	0.64402	D	0.000009	T	0.24275	0.0588	L	0.54323	1.7	0.36202	D	0.850823	D	0.76494	0.999	P	0.61003	0.882	T	0.16482	-1.0401	10	0.87932	D	0	-21.286	8.1658	0.31226	0.1668:0.7365:0.0:0.0967	.	1617	O60303	K0556_HUMAN	C	1617	ENSP00000261588:R1617C	ENSP00000261588:R1617C	R	+	1	0	KIAA0556	27697443	1.000000	0.71417	0.999000	0.59377	0.632000	0.37999	0.559000	0.23485	0.934000	0.37316	0.561000	0.74099	CGC		0.597	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
GSG1L	146395	broad.mit.edu	37	16	27974513	27974513	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:27974513G>A	ENST00000447459.2	-	2	445	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	GSG1L_ENST00000395724.3_Missense_Mutation_p.R121C|GSG1L_ENST00000380898.2_5'UTR	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	121					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R121C(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ATGAAGCTGCGACATTTTTCA	0.547																																					p.R121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	16						.						81.0	87.0	85.0					16																	27974513		2005	4167	6172	27882014	SO:0001583	missense	146395	exon2			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.361C>T	16.37:g.27974513G>A	ENSP00000394954:p.Arg121Cys		27882014	NM_001109763	Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885478	0.72410	.	.	ENSG00000169181	ENST00000447459;ENST00000395724	T;T	0.35789	1.29;1.29	4.68	4.68	0.58851	.	0.073618	0.52532	U	0.000069	T	0.59307	0.2184	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.64032	-0.6502	10	0.87932	D	0	-18.3836	13.4559	0.61199	0.0:0.0:1.0:0.0	.	121;121	Q6UXU4-3;Q6UXU4	.;GSG1L_HUMAN	C	121	ENSP00000394954:R121C;ENSP00000379074:R121C	ENSP00000379074:R121C	R	-	1	0	GSG1L	27882014	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	5.504000	0.66968	2.312000	0.78011	0.460000	0.39030	CGC		0.547	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675	
PRSS21	10942	broad.mit.edu	37	16	2868816	2868816	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2868816G>A	ENST00000005995.3	+	4	438	c.396G>A	c.(394-396)ggG>ggA	p.G132G	PRSS21_ENST00000450020.3_Silent_p.G132G|PRSS21_ENST00000455114.1_Silent_p.G130G			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	132	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.G132G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GCTACCTGGGGAATTCACCCT	0.517																																					p.G132G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	16						.						212.0	172.0	185.0					16																	2868816		2198	4300	6498	2808817	SO:0001819	synonymous_variant	10942	exon4			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.396G>A	16.37:g.2868816G>A			2808817	NM_006799	Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	CCDS10478.1																																																																																				0.517	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1	NM_006799	
PRSS22	64063	broad.mit.edu	37	16	2903914	2903914	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:2903914C>A	ENST00000161006.3	-	5	734	c.669G>T	c.(667-669)gaG>gaT	p.E223D	PRSS22_ENST00000571228.1_Missense_Mutation_p.E113D|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	223	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E223D(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						ACAGCATGTCCTCAGTGATGG	0.642																																					p.E223D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G669T	16						.						82.0	76.0	78.0					16																	2903914		2198	4300	6498	2843915	SO:0001583	missense	64063	exon5			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.669G>T	16.37:g.2903914C>A	ENSP00000161006:p.Glu223Asp		2843915	NM_022119	O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	c	9.359	1.067566	0.20067	.	.	ENSG00000005001	ENST00000161006	T	0.80994	-1.44	4.24	0.409	0.16382	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.542430	0.16703	N	0.203030	T	0.53802	0.1819	N	0.02960	-0.455	0.24648	N	0.993533	P	0.43024	0.798	P	0.47044	0.535	T	0.58994	-0.7537	10	0.02654	T	1	.	2.962	0.05895	0.0:0.452:0.2346:0.3134	.	223	Q9GZN4	BSSP4_HUMAN	D	223	ENSP00000161006:E223D	ENSP00000161006:E223D	E	-	3	2	PRSS22	2843915	0.498000	0.26075	0.997000	0.53966	0.599000	0.36880	0.037000	0.13840	0.336000	0.23639	0.306000	0.20318	GAG		0.642	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119	
XPO6	23214	broad.mit.edu	37	16	28123308	28123308	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28123308C>T	ENST00000304658.5	-	17	2671	c.2171G>A	c.(2170-2172)cGa>cAa	p.R724Q	XPO6_ENST00000565698.1_Missense_Mutation_p.R710Q	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	724					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.R724Q(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGAGAGGGCTCGGCACACCAA	0.592																																					p.R724Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2171A	16						.						44.0	48.0	46.0					16																	28123308		2072	4199	6271	28030809	SO:0001583	missense	23214	exon17			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2171G>A	16.37:g.28123308C>T	ENSP00000302790:p.Arg724Gln		28030809	NM_015171	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	36	5.862241	0.97036	.	.	ENSG00000169180	ENST00000304658	T	0.67865	-0.29	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.58970	0.683;0.849	T	0.74497	-0.3646	10	0.36615	T	0.2	-4.418	17.4866	0.87691	0.0:1.0:0.0:0.0	.	724;724	B7ZM10;Q96QU8	.;XPO6_HUMAN	Q	724	ENSP00000302790:R724Q	ENSP00000302790:R724Q	R	-	2	0	XPO6	28030809	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.607000	0.82883	2.745000	0.94114	0.650000	0.86243	CGA		0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195	
NUPR1	26471	broad.mit.edu	37	16	28549402	28549402	+	Missense_Mutation	SNP	C	C	T	rs371618392		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28549402C>T	ENST00000324873.6	-	2	453	c.187G>A	c.(187-189)Gag>Aag	p.E63K	NUPR1_ENST00000395641.2_Missense_Mutation_p.E81K	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	63					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E63K(1)		breast(1)|large_intestine(1)|lung(1)	3						AGTTTCCTCTCGTGCCCGCCA	0.622																																					p.E81K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	16						.	C	LYS/GLU,LYS/GLU	0,4394		0,0,2197	124.0	141.0	135.0		241,187	5.5	1.0	16		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NUPR1	NM_001042483.1,NM_012385.2	56,56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/101,63/83	28549402	1,12993	2197	4300	6497	28456903	SO:0001583	missense	26471	exon2			AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.187G>A	16.37:g.28549402C>T	ENSP00000315559:p.Glu63Lys		28456903	NM_001042483	B2R5C4|O60357|Q6FGG3	Missense_Mutation	SNP	ENST00000324873.6	37	CCDS10634.1	.	.	.	.	.	.	.	.	.	.	C	36	5.936202	0.97122	0.0	1.16E-4	ENSG00000176046	ENST00000324873;ENST00000395641	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.79323	0.4426	.	.	.	0.52501	D	0.999951	D	0.89917	1.0	D	0.91635	0.999	T	0.80876	-0.1186	8	0.66056	D	0.02	-24.4866	15.2482	0.73523	0.0:1.0:0.0:0.0	.	63	O60356	NUPR1_HUMAN	K	63;81	.	ENSP00000315559:E63K	E	-	1	0	NUPR1	28456903	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	4.683000	0.61679	2.748000	0.94277	0.655000	0.94253	GAG		0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385	
ATXN2L	11273	broad.mit.edu	37	16	28841213	28841213	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28841213C>T	ENST00000336783.4	+	8	1035	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R290C|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R290C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R290C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R290C|ATXN2L_ENST00000395547.2_Missense_Mutation_p.R290C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R290C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	290					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.R290C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGAAGAGTTTCGTCAGCGAGA	0.557																																					p.R290C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C868T	16						.						69.0	67.0	68.0					16																	28841213		2197	4300	6497	28748714	SO:0001583	missense	11273	exon8				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.868C>T	16.37:g.28841213C>T	ENSP00000338718:p.Arg290Cys		28748714	NM_148415	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.516411	0.85495	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.52057	0.7;0.68;0.7;0.7;0.7	5.85	5.85	0.93711	LsmAD domain (1);	0.000000	0.64402	D	0.000002	T	0.67363	0.2885	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.994;0.998;0.998;0.997;0.997;0.998;0.997	T	0.69075	-0.5241	10	0.72032	D	0.01	-10.5407	13.8453	0.63463	0.1531:0.8469:0.0:0.0	.	290;290;290;290;290;290;290;290	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	C	290	ENSP00000341459:R290C;ENSP00000378917:R290C;ENSP00000338718:R290C;ENSP00000372133:R290C;ENSP00000315650:R290C	ENSP00000315650:R290C	R	+	1	0	ATXN2L	28748714	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.595000	0.46197	2.779000	0.95612	0.491000	0.48974	CGT		0.557	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
ATXN2L	11273	broad.mit.edu	37	16	28845850	28845850	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28845850G>A	ENST00000336783.4	+	18	2436	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Missense_Mutation_p.D757N|ATXN2L_ENST00000325215.6_Missense_Mutation_p.D757N|ATXN2L_ENST00000570200.1_Missense_Mutation_p.D757N|ATXN2L_ENST00000564304.1_Missense_Mutation_p.D763N|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Missense_Mutation_p.D757N|ATXN2L_ENST00000382686.4_Missense_Mutation_p.D757N	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	757					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.D757N(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCAGCGCTCGGACCAACACCA	0.687																																					p.D757N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2269A	16						.						47.0	55.0	53.0					16																	28845850		2197	4299	6496	28753351	SO:0001583	missense	11273	exon18				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2269G>A	16.37:g.28845850G>A	ENSP00000338718:p.Asp757Asn		28753351	NM_148415	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	35	5.514359	0.96402	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.68025	-0.17;-0.3;-0.26;-0.18;-0.19	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.998;0.997;0.998	D;D;D;D;D;D;D	0.74023	0.982;0.96;0.96;0.982;0.982;0.96;0.982	T	0.75175	-0.3410	10	0.34782	T	0.22	-16.0056	18.6431	0.91401	0.0:0.0:1.0:0.0	.	757;757;757;757;757;757;757	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	N	757	ENSP00000341459:D757N;ENSP00000378917:D757N;ENSP00000338718:D757N;ENSP00000372133:D757N;ENSP00000315650:D757N	ENSP00000315650:D757N	D	+	1	0	ATXN2L	28753351	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.075000	0.89502	2.704000	0.92352	0.563000	0.77884	GAC		0.687	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
RABEP2	79874	broad.mit.edu	37	16	28917055	28917055	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28917055C>T	ENST00000358201.4	-	11	2049	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	RABEP2_ENST00000544477.1_Silent_p.E416E|RABEP2_ENST00000357573.6_Silent_p.E451E	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	487					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E487E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCCGCTCCATCTCTGTCCTCA	0.677																																					p.E487E	Pancreas(66;639 1284 10093 31061 49099)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1461A	16						.						41.0	47.0	45.0					16																	28917055		2050	4188	6238	28824556	SO:0001819	synonymous_variant	79874	exon11			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1461G>A	16.37:g.28917055C>T			28824556	NM_024816		Silent	SNP	ENST00000358201.4	37	CCDS42140.1																																																																																				0.677	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816	
RABEP2	79874	broad.mit.edu	37	16	28931122	28931122	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28931122C>A	ENST00000358201.4	-	3	1005	c.417G>T	c.(415-417)gaG>gaT	p.E139D	RABEP2_ENST00000544477.1_Missense_Mutation_p.E68D|RABEP2_ENST00000357573.6_Missense_Mutation_p.E139D|RABEP2_ENST00000561803.1_5'UTR	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	139					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E139D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCATCTGCTTCTCCAGGGAGT	0.607																																					p.E139D	Pancreas(66;639 1284 10093 31061 49099)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	16						.						65.0	69.0	67.0					16																	28931122		1957	4152	6109	28838623	SO:0001583	missense	79874	exon3			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.417G>T	16.37:g.28931122C>A	ENSP00000350934:p.Glu139Asp		28838623	NM_024816		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908280	0.92107	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.55588	0.51;0.53;0.55	4.75	4.75	0.60458	Rabaptin coiled-coil domain (1);	0.226096	0.35378	N	0.003244	T	0.67896	0.2942	L	0.52011	1.625	0.43313	D	0.99532	D;D;D;D	0.89917	0.997;0.986;1.0;0.973	D;P;D;P	0.87578	0.992;0.718;0.998;0.815	T	0.70757	-0.4785	10	0.66056	D	0.02	-24.669	17.0026	0.86384	0.0:1.0:0.0:0.0	.	68;139;139;139	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	D	139;139;68	ENSP00000350934:E139D;ENSP00000350186:E139D;ENSP00000442798:E68D	ENSP00000350186:E139D	E	-	3	2	RABEP2	28838623	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.981000	0.56902	2.395000	0.81488	0.650000	0.86243	GAG		0.607	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816	
FAM57B	83723	broad.mit.edu	37	16	30037088	30037088	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30037088C>T	ENST00000380495.4	-	4	1230	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	FAM57B_ENST00000279389.4_Missense_Mutation_p.V117I|FAM57B_ENST00000564806.1_Missense_Mutation_p.V117I	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	167	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.V167I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GGCGTGCTGACCTCTGCCATC	0.612																																					p.V167I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	16						.						182.0	169.0	173.0					16																	30037088		2197	4300	6497	29944589	SO:0001583	missense	83723	exon4			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.499G>A	16.37:g.30037088C>T	ENSP00000369863:p.Val167Ile		29944589	NM_031478	Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312623	0.81358	.	.	ENSG00000149926	ENST00000380495	D	0.84800	-1.9	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.067269	0.64402	D	0.000009	D	0.83562	0.5281	L	0.40543	1.245	0.38789	D	0.954934	P;P	0.48503	0.911;0.789	P;P	0.51516	0.672;0.525	T	0.82954	-0.0201	10	0.32370	T	0.25	-14.4485	11.0197	0.47711	0.0:0.9127:0.0:0.0873	.	167;167	F1T0F5;Q71RH2	.;FA57B_HUMAN	I	167	ENSP00000369863:V167I	ENSP00000369863:V167I	V	-	1	0	FAM57B	29944589	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.699000	0.54778	2.408000	0.81797	0.561000	0.74099	GTC		0.612	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478	
SEPT1	1731	broad.mit.edu	37	16	30387745	30387745	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30387745C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Splice_Site_p.G58G			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.G58G(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCCCTCCAGGCCGCCTCAATG	0.577																																					p.G58G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C174T	16						.						85.0	90.0	88.0					16																	30387745		2197	4300	6497	30295246	SO:0001628	intergenic_variant	29895	exon4			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387745C>T			30295246	NM_013292	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Silent	SNP	ENST00000571393.1	37																																																																																					0.577	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838	
ITGAL	3683	broad.mit.edu	37	16	30490684	30490684	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30490684C>A	ENST00000356798.6	+	6	658	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	160	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.L160M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTGGTATTTCTGTTTGATGG	0.473																																					p.L160M	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C478A	16						.						117.0	105.0	109.0					16																	30490684		2197	4300	6497	30398185	SO:0001583	missense	3683	exon6				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.478C>A	16.37:g.30490684C>A	ENSP00000349252:p.Leu160Met		30398185	NM_002209	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645657	0.67358	.	.	ENSG00000005844	ENST00000356798	D	0.87103	-2.21	5.85	3.58	0.41010	von Willebrand factor, type A (3);	0.000000	0.41097	D	0.000958	D	0.92368	0.7578	M	0.84683	2.71	0.80722	D	1	D	0.55385	0.971	P	0.62560	0.904	D	0.92993	0.6416	10	0.87932	D	0	.	11.032	0.47779	0.0:0.8257:0.0:0.1743	.	160	P20701	ITAL_HUMAN	M	160	ENSP00000349252:L160M	ENSP00000349252:L160M	L	+	1	2	ITGAL	30398185	1.000000	0.71417	0.999000	0.59377	0.832000	0.47134	2.594000	0.46189	1.482000	0.48325	0.411000	0.27672	CTG		0.473	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAL	3683	broad.mit.edu	37	16	30507763	30507763	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30507763G>T	ENST00000356798.6	+	15	1888	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E487*|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	570					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.E570*(1)|p.E570K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCAGCGGATAGAAGGGACCCA	0.587																																					p.E487X	NSCLC(110;1462 1641 3311 33990 49495)											.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G1459T	16						.						138.0	128.0	131.0					16																	30507763		2197	4300	6497	30415264	SO:0001587	stop_gained	3683	exon13				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1708G>T	16.37:g.30507763G>T	ENSP00000349252:p.Glu570*		30415264	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Nonsense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	38	7.062727	0.98036	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	.	.	.	5.94	2.8	0.32819	.	0.693431	0.13567	N	0.378334	.	.	.	.	.	.	0.23483	N	0.997581	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	4.437	0.11555	0.2895:0.1725:0.538:0.0	.	.	.	.	X	570;487	.	ENSP00000349252:E570X	E	+	1	0	ITGAL	30415264	0.000000	0.05858	0.408000	0.26446	0.957000	0.61999	0.405000	0.21015	0.336000	0.23639	0.563000	0.77884	GAA		0.587	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAL	3683	broad.mit.edu	37	16	30507879	30507879	+	Silent	SNP	C	C	T	rs147713219		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30507879C>T	ENST00000356798.6	+	15	2004	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Silent_p.I525I|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	608					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.I608I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCCAGATGATCGTGCTGAGGT	0.463																																					p.I525I	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1575T	16						.	C	,	1,4393	2.1+/-5.4	0,1,2196	91.0	77.0	82.0		1575,1824	-0.5	0.9	16	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITGAL	NM_001114380.1,NM_002209.2	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	525/1087,608/1171	30507879	1,12993	2197	4300	6497	30415380	SO:0001819	synonymous_variant	3683	exon13				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1824C>T	16.37:g.30507879C>T			30415380	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	CCDS32433.1																																																																																				0.463	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ITGAL	3683	broad.mit.edu	37	16	30515508	30515508	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30515508G>T	ENST00000356798.6	+	18	2338	c.2158G>T	c.(2158-2160)Gac>Tac	p.D720Y	MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.D637Y|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	720					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.D720Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ATGTGTTCAAGACCTCATCTC	0.458																																					p.D637Y	NSCLC(110;1462 1641 3311 33990 49495)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1909T	16						.						157.0	140.0	146.0					16																	30515508		2197	4300	6497	30423009	SO:0001583	missense	3683	exon16				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2158G>T	16.37:g.30515508G>T	ENSP00000349252:p.Asp720Tyr		30423009	NM_001114380	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028256	0.75390	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.79033	-1.23;-1.23	5.34	5.34	0.76211	Integrin alpha-2 (1);	0.000000	0.64402	D	0.000009	D	0.86867	0.6036	M	0.76002	2.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	D	0.87778	0.2610	10	0.87932	D	0	.	14.4791	0.67567	0.0:0.0:1.0:0.0	.	637;720	Q96HB1;P20701	.;ITAL_HUMAN	Y	720;637	ENSP00000349252:D720Y;ENSP00000350886:D637Y	ENSP00000349252:D720Y	D	+	1	0	ITGAL	30423009	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.606000	0.61126	2.799000	0.96334	0.505000	0.49811	GAC		0.458	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2		
ZNF764	92595	broad.mit.edu	37	16	30569163	30569163	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30569163G>A	ENST00000252797.2	-	2	281	c.201C>T	c.(199-201)atC>atT	p.I67I	ZNF764_ENST00000395091.2_Silent_p.I67I|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I67I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TGTTGCCTCCGATTCCTAGGG	0.667																																					p.I67I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	16						.						30.0	27.0	28.0					16																	30569163		2197	4300	6497	30476664	SO:0001819	synonymous_variant	92595	exon2			BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.201C>T	16.37:g.30569163G>A			30476664	NM_001172679	A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	ENST00000252797.2	37	CCDS10683.1																																																																																				0.667	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410	
SRCAP	10847	broad.mit.edu	37	16	30735667	30735667	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30735667C>A	ENST00000262518.4	+	25	5307	c.4922C>A	c.(4921-4923)tCt>tAt	p.S1641Y	SRCAP_ENST00000395059.2_Missense_Mutation_p.S1579Y|SRCAP_ENST00000344771.4_Missense_Mutation_p.S1483Y	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1641	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S1641Y(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGGAACCTCTTTAGCCTCA	0.582																																					p.S1641Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4922A	16						.						100.0	99.0	99.0					16																	30735667		2197	4300	6497	30643168	SO:0001583	missense	10847	exon25			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4922C>A	16.37:g.30735667C>A	ENSP00000262518:p.Ser1641Tyr		30643168	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168353	0.21621	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91407	-2.82;-2.84;-2.79	5.68	5.68	0.88126	.	0.282010	0.25941	N	0.027303	T	0.81875	0.4915	N	0.08118	0	0.20873	N	0.999839	B;P;B	0.34546	0.188;0.456;0.118	B;B;B	0.30401	0.081;0.115;0.054	T	0.77440	-0.2587	10	0.72032	D	0.01	-4.5578	17.2829	0.87133	0.0:1.0:0.0:0.0	.	1483;1579;1641	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	Y	1641;1579;1483	ENSP00000262518:S1641Y;ENSP00000378499:S1579Y;ENSP00000343042:S1483Y	ENSP00000262518:S1641Y	S	+	2	0	SRCAP	30643168	0.025000	0.19082	0.997000	0.53966	0.968000	0.65278	0.028000	0.13644	2.672000	0.90937	0.557000	0.71058	TCT		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SETD1A	9739	broad.mit.edu	37	16	30983010	30983010	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:30983010G>A	ENST00000262519.8	+	13	4014	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1110	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E1110K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACCCCTGCCCGAACAGGAGGC	0.637																																					p.E1110K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3328A	16						.						31.0	31.0	31.0					16																	30983010		2191	4287	6478	30890511	SO:0001583	missense	9739	exon13			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3328G>A	16.37:g.30983010G>A	ENSP00000262519:p.Glu1110Lys		30890511	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599346	0.28534	.	.	ENSG00000099381	ENST00000262519	D	0.94576	-3.46	5.66	5.66	0.87406	.	0.191986	0.43579	D	0.000543	D	0.95752	0.8618	M	0.61703	1.905	0.38503	D	0.94828	D	0.63046	0.992	D	0.65443	0.935	D	0.93963	0.7242	10	0.12430	T	0.62	.	15.2572	0.73593	0.0:0.0:1.0:0.0	.	1110	O15047	SET1A_HUMAN	K	1110	ENSP00000262519:E1110K	ENSP00000262519:E1110K	E	+	1	0	SETD1A	30890511	0.998000	0.40836	0.785000	0.31869	0.011000	0.07611	4.746000	0.62133	2.672000	0.90937	0.467000	0.42956	GAA		0.637	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
ZNF205	7755	broad.mit.edu	37	16	3165383	3165383	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3165383G>A	ENST00000382192.3	+	3	290	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.E29K|ZNF205-AS1_ENST00000576943.1_RNA|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	29					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E29K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TCCTCATCAGGAAATGCCTTC	0.592																																					p.E29K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	16						.						82.0	80.0	80.0					16																	3165383		2197	4300	6497	3105384	SO:0001583	missense	7755	exon3			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.85G>A	16.37:g.3165383G>A	ENSP00000371627:p.Glu29Lys		3105384	NM_001042428	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565653	0.45694	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.51325	3.2;3.2;0.71;3.06	4.85	2.79	0.32731	.	0.361650	0.20185	N	0.097429	T	0.40498	0.1119	L	0.57536	1.79	0.09310	N	1	B	0.25312	0.123	B	0.21360	0.034	T	0.37911	-0.9685	10	0.62326	D	0.03	-8.271	7.2187	0.25975	0.0906:0.3342:0.5752:0.0	.	29	O95201	ZN205_HUMAN	K	29	ENSP00000371627:E29K;ENSP00000219091:E29K;ENSP00000394360:E29K;ENSP00000403306:E29K	ENSP00000219091:E29K	E	+	1	0	ZNF205	3105384	0.001000	0.12720	0.176000	0.23000	0.062000	0.15995	0.771000	0.26633	0.531000	0.28639	0.491000	0.48974	GAA		0.592	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456	
STX1B	112755	broad.mit.edu	37	16	31004728	31004728	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31004728C>A	ENST00000215095.5	-	8	846	c.615G>T	c.(613-615)gaG>gaT	p.E205D	STX1B_ENST00000565419.1_Missense_Mutation_p.E205D	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	205	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)	p.E205D(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						GGATGCTGGTCTCCAGCTTGA	0.552																																					p.E205D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G615T	16						.						191.0	147.0	162.0					16																	31004728		2197	4300	6497	30912229	SO:0001583	missense	112755	exon8			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.615G>T	16.37:g.31004728C>A	ENSP00000215095:p.Glu205Asp		30912229	NM_052874	Q15531|Q2VPS2	Missense_Mutation	SNP	ENST00000215095.5	37	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691083	0.68271	.	.	ENSG00000099365	ENST00000215095	T	0.35789	1.29	5.0	1.39	0.22231	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.122518	0.53938	D	0.000060	T	0.65026	0.2652	H	0.97440	4.005	0.58432	D	0.999999	P;D	0.55605	0.944;0.972	P;P	0.60949	0.881;0.811	T	0.67432	-0.5672	10	0.66056	D	0.02	.	7.4429	0.27194	0.0:0.4773:0.0:0.5227	.	205;205	Q2VPS2;P61266	.;STX1B_HUMAN	D	205	ENSP00000215095:E205D	ENSP00000215095:E205D	E	-	3	2	STX1B	30912229	0.820000	0.29190	1.000000	0.80357	0.932000	0.56968	-0.076000	0.11412	0.277000	0.22141	-0.367000	0.07326	GAG		0.552	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2		
PRSS36	146547	broad.mit.edu	37	16	31153162	31153162	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31153162G>A	ENST00000268281.4	-	11	1699	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	PRSS36_ENST00000418068.2_Silent_p.G547G|PRSS36_ENST00000569305.1_Silent_p.G542G	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	547	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.G547G(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGATCCATGGGCCATGAGTCT	0.597																																					p.G547G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1641T	16						.						87.0	75.0	79.0					16																	31153162		2197	4300	6497	31060663	SO:0001819	synonymous_variant	146547	exon11			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1641C>T	16.37:g.31153162G>A			31060663	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	CCDS32436.1																																																																																				0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
ITGAM	3684	broad.mit.edu	37	16	31287004	31287004	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31287004G>T	ENST00000287497.8	+	9	1068	c.993G>T	c.(991-993)aaG>aaT	p.K331N	ITGAM_ENST00000544665.3_Missense_Mutation_p.K331N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	331					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.K331N(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCGGGAGAAGATCTTTGCGA	0.532																																					p.K331N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G993T	16						.						66.0	67.0	67.0					16																	31287004		2011	4172	6183	31194505	SO:0001583	missense	3684	exon9			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.993G>T	16.37:g.31287004G>T	ENSP00000287497:p.Lys331Asn		31194505	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373769	0.61624	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.70869	-0.52;-0.52	4.51	4.51	0.55191	von Willebrand factor, type A (1);	.	.	.	.	D	0.82802	0.5116	M	0.82132	2.575	0.34893	D	0.745716	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.87867	0.2668	9	0.87932	D	0	.	10.7431	0.46164	0.0928:0.0:0.9072:0.0	.	331;331	Q4VAK1;P11215	.;ITAM_HUMAN	N	331	ENSP00000441691:K331N;ENSP00000287497:K331N	ENSP00000287497:K331N	K	+	3	2	ITGAM	31194505	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.586000	0.36611	2.464000	0.83262	0.561000	0.74099	AAG		0.532	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITGAM	3684	broad.mit.edu	37	16	31308849	31308849	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31308849C>T	ENST00000287497.8	+	13	1446	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ITGAM_ENST00000544665.3_Silent_p.F457F			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	457					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.F457F(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCGCCTACTTCGGGGCCTCCC	0.587																																					p.F457F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	16						.						117.0	128.0	124.0					16																	31308849		2190	4293	6483	31216350	SO:0001819	synonymous_variant	3684	exon13			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1371C>T	16.37:g.31308849C>T			31216350	NM_000632	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	CCDS45470.1																																																																																				0.587	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ITGAX	3687	broad.mit.edu	37	16	31372406	31372406	+	Missense_Mutation	SNP	G	G	T	rs150242454		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31372406G>T	ENST00000268296.4	+	9	1005	c.884G>T	c.(883-885)aGa>aTa	p.R295I	ITGAX_ENST00000562522.1_Missense_Mutation_p.R295I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	295	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R295I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTTCAAAACAGAAATTCTTGG	0.373																																					p.R295I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884T	16						.						103.0	113.0	110.0					16																	31372406		2197	4300	6497	31279907	SO:0001583	missense	3687	exon9			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.884G>T	16.37:g.31372406G>T	ENSP00000268296:p.Arg295Ile		31279907	NM_000887	Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	1.156	-0.645253	0.03531	.	.	ENSG00000140678	ENST00000268296	D	0.83419	-1.72	5.07	-10.1	0.00402	von Willebrand factor, type A (3);	.	.	.	.	T	0.65460	0.2693	L	0.40543	1.245	0.09310	N	1	B	0.18013	0.025	B	0.17722	0.019	T	0.52071	-0.8624	9	0.21540	T	0.41	.	1.0748	0.01629	0.2614:0.1106:0.2684:0.3596	.	295	P20702	ITAX_HUMAN	I	295	ENSP00000268296:R295I	ENSP00000268296:R295I	R	+	2	0	ITGAX	31279907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-13.824000	0.00000	-6.284000	0.00005	-2.202000	0.00303	AGA		0.373	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	
ITGAD	3681	broad.mit.edu	37	16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	951					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R951Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGAGCATCGATACCGTGTG	0.498																																					p.R951Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2852A	16						.						78.0	67.0	71.0					16																	31434506		2197	4300	6497	31342007	SO:0001583	missense	3681	exon24			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2852G>A	16.37:g.31434506G>A	ENSP00000373854:p.Arg951Gln		31342007	NM_005353	Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331575	0.24167	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44482	0.92	5.59	1.43	0.22495	Integrin alpha-2 (1);	.	.	.	.	T	0.20251	0.0487	L	0.28400	0.85	0.09310	N	1	P;P	0.47034	0.889;0.889	B;B	0.28638	0.092;0.092	T	0.09443	-1.0674	9	0.20046	T	0.44	.	7.3842	0.26872	0.3411:0.0:0.6589:0.0	.	967;951	Q59H14;Q13349	.;ITAD_HUMAN	Q	967;951	ENSP00000373854:R951Q	ENSP00000373854:R951Q	R	+	2	0	ITGAD	31342007	0.000000	0.05858	0.003000	0.11579	0.453000	0.32348	-0.053000	0.11846	0.704000	0.31869	0.650000	0.86243	CGA		0.498	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
POLR3K	51728	broad.mit.edu	37	16	97554	97554	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:97554G>A	ENST00000293860.5	-	3	244	c.203C>T	c.(202-204)tCg>tTg	p.S68L		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	68					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.S68L(1)		central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TTTGGGACACGACTCTGGCAA	0.468																																					p.S68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C203T	16						.						69.0	60.0	63.0					16																	97554		2203	4300	6503	37554	SO:0001583	missense	51728	exon3			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"""RNA polymerase subunits"""	14121	protein-coding gene	gene with protein product		606007	"""polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"""			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.203C>T	16.37:g.97554G>A	ENSP00000293860:p.Ser68Leu		37554	NM_016310	Q1W6H4|Q96S35	Missense_Mutation	SNP	ENST00000293860.5	37	CCDS10395.1	.	.	.	.	.	.	.	.	.	.	.	9.290	1.050376	0.19827	.	.	ENSG00000161980	ENST00000293860	T	0.43688	0.94	4.59	2.6	0.31112	Zinc finger, TFIIS-type (3);	0.211582	0.49916	D	0.000132	T	0.22322	0.0538	N	0.10972	0.075	0.23391	N	0.997775	B	0.15473	0.013	B	0.15484	0.013	T	0.16041	-1.0416	10	0.30078	T	0.28	-3.7294	10.3436	0.43893	0.162:0.0:0.838:0.0	.	68	Q9Y2Y1	RPC10_HUMAN	L	68	ENSP00000293860:S68L	ENSP00000293860:S68L	S	-	2	0	POLR3K	37554	1.000000	0.71417	0.433000	0.26760	0.204000	0.24138	4.293000	0.59037	0.502000	0.28037	0.449000	0.29647	TCG		0.468	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1	NM_016310	
MEFV	4210	broad.mit.edu	37	16	3293324	3293324	+	Silent	SNP	G	G	A	rs11466047	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3293324G>A	ENST00000219596.1	-	10	2202	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	MEFV_ENST00000536379.1_Silent_p.F510F|MEFV_ENST00000339854.4_Silent_p.F541F|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	721	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.F721F(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TGTAGTCCACGAAGATGCCCA	0.522													G|||	31	0.0061901	0.0219	0.0029	5008	,	,		19435	0.0		0.0	False		,,,				2504	0.0				p.F721F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2163T	16						.	G	,	82,4312	70.9+/-108.8	0,82,2115	109.0	106.0	107.0		2163,	-3.8	0.0	16	dbSNP_120	107	0,8600		0,0,4300	no	coding-synonymous,utr-3	MEFV	NM_000243.2,NM_001198536.1	,	0,82,6415	AA,AG,GG		0.0,1.8662,0.6311	,	721/782,	3293324	82,12912	2197	4300	6497	3233325	SO:0001819	synonymous_variant	4210	exon10			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2163C>T	16.37:g.3293324G>A			3233325	NM_000243	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																				0.522	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
MEFV	4210	broad.mit.edu	37	16	3297076	3297076	+	Silent	SNP	G	G	A	rs571832030		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3297076G>A	ENST00000219596.1	-	5	1566	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	MEFV_ENST00000536379.1_Silent_p.L298L|MEFV_ENST00000339854.4_Silent_p.L329L|MEFV_ENST00000541159.1_Silent_p.L298L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	509	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.L509L(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCAGCGCATCGAGCAGGGCGA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20443	0.0		0.0	False		,,,				2504	0.001				p.L509L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1527T	16						.						152.0	130.0	137.0					16																	3297076		2197	4300	6497	3237077	SO:0001819	synonymous_variant	4210	exon5			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1527C>T	16.37:g.3297076G>A			3237077	NM_000243	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	CCDS10498.1																																																																																				0.597	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243	
ZNF263	10127	broad.mit.edu	37	16	3334055	3334055	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3334055G>T	ENST00000219069.5	+	1	1113	c.237G>T	c.(235-237)caG>caT	p.Q79H	ZNF263_ENST00000574253.1_Missense_Mutation_p.Q79H|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.Q79H	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	79	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q79H(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CGAAGGAGCAGATCTTGGAGC	0.632																																					p.Q79H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	16						.						73.0	75.0	74.0					16																	3334055		2197	4300	6497	3274056	SO:0001583	missense	10127	exon1			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.237G>T	16.37:g.3334055G>T	ENSP00000219069:p.Gln79His		3274056	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913179	0.52439	.	.	ENSG00000006194	ENST00000219069	T	0.09255	3.0	5.06	4.11	0.48088	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.50627	D	0.000103	T	0.41143	0.1146	H	0.94658	3.565	0.37624	D	0.921413	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.57365	-0.7824	10	0.87932	D	0	.	9.7263	0.40333	0.0942:0.0:0.9058:0.0	.	79;79	O14978;D3DUC1	ZN263_HUMAN;.	H	79	ENSP00000219069:Q79H	ENSP00000219069:Q79H	Q	+	3	2	ZNF263	3274056	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	2.200000	0.42724	1.496000	0.48567	0.655000	0.94253	CAG		0.632	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
ZNF263	10127	broad.mit.edu	37	16	3340035	3340035	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3340035G>T	ENST00000219069.5	+	6	2405	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	ZNF263_ENST00000538765.1_Missense_Mutation_p.R158I	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	510					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R510I(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CGGCACCAGAGAATTCACACT	0.527																																					p.R510I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1529T	16						.						57.0	56.0	56.0					16																	3340035		2197	4300	6497	3280036	SO:0001583	missense	10127	exon6			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1529G>T	16.37:g.3340035G>T	ENSP00000219069:p.Arg510Ile		3280036	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422687	0.83559	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.24908	1.83;1.83	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.47154	0.1430	M	0.76838	2.35	0.80722	D	1	D	0.58620	0.983	P	0.58577	0.841	T	0.45454	-0.9260	10	0.87932	D	0	.	12.9191	0.58222	0.0:0.0:0.8379:0.1621	.	510	O14978	ZN263_HUMAN	I	158;510	ENSP00000444497:R158I;ENSP00000219069:R510I	ENSP00000219069:R510I	R	+	2	0	ZNF263	3280036	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	2.892000	0.48625	2.941000	0.99782	0.655000	0.94253	AGA		0.527	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
ZNF263	10127	broad.mit.edu	37	16	3340115	3340115	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3340115G>A	ENST00000219069.5	+	6	2485	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ZNF263_ENST00000538765.1_Missense_Mutation_p.E185K	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	537					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E537K(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CGTCATTCACGAAAGAACTCA	0.507																																					p.E537K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1609A	16						.						43.0	41.0	42.0					16																	3340115		2197	4300	6497	3280116	SO:0001583	missense	10127	exon6			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1609G>A	16.37:g.3340115G>A	ENSP00000219069:p.Glu537Lys		3280116	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819009	0.50633	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.60424	0.19;0.19	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000016	T	0.47857	0.1468	N	0.26042	0.785	0.80722	D	1	D	0.63046	0.992	P	0.45343	0.477	T	0.38824	-0.9643	10	0.33141	T	0.24	.	13.604	0.62037	0.0:0.1553:0.8446:0.0	.	537	O14978	ZN263_HUMAN	K	185;537	ENSP00000444497:E185K;ENSP00000219069:E537K	ENSP00000219069:E537K	E	+	1	0	ZNF263	3280116	0.040000	0.19996	0.995000	0.50966	0.944000	0.59088	0.630000	0.24553	2.941000	0.99782	0.655000	0.94253	GAA		0.507	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
ZNF263	10127	broad.mit.edu	37	16	3340260	3340260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3340260G>A	ENST00000219069.5	+	6	2630	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	ZNF263_ENST00000538765.1_Missense_Mutation_p.R233Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	585					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R585Q(2)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAAAGCTTCCGGCAGGGCATG	0.473																																					p.R585Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1754A	16						.						68.0	64.0	65.0					16																	3340260		2197	4300	6497	3280261	SO:0001583	missense	10127	exon6			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1754G>A	16.37:g.3340260G>A	ENSP00000219069:p.Arg585Gln		3280261	NM_005741	B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634988	0.47049	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.00966	5.49;5.49	5.2	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.126184	0.35615	N	0.003081	T	0.01592	0.0051	M	0.75777	2.31	0.80722	D	1	B	0.19583	0.037	B	0.10450	0.005	T	0.49351	-0.8949	10	0.51188	T	0.08	.	7.0759	0.25203	0.086:0.0:0.7453:0.1687	.	585	O14978	ZN263_HUMAN	Q	233;585	ENSP00000444497:R233Q;ENSP00000219069:R585Q	ENSP00000219069:R585Q	R	+	2	0	ZNF263	3280261	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.055000	0.14229	1.580000	0.49851	0.655000	0.94253	CGG		0.473	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2		
CLUAP1	23059	broad.mit.edu	37	16	3556343	3556343	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3556343G>T	ENST00000576634.1	+	3	291	c.147G>T	c.(145-147)caG>caT	p.Q49H	CLUAP1_ENST00000417763.2_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000341633.5_Missense_Mutation_p.Q49H|CLUAP1_ENST00000571025.1_Missense_Mutation_p.Q49H	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	49					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.Q49H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATGAGCCCCAGACTGACATCC	0.478																																					p.Q49H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	16						.						141.0	125.0	131.0					16																	3556343		2197	4300	6497	3496344	SO:0001583	missense	23059	exon3			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.147G>T	16.37:g.3556343G>T	ENSP00000460850:p.Gln49His		3496344	NM_015041	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	5.889	0.348083	0.11126	.	.	ENSG00000103351	ENST00000341633	T	0.44881	0.91	5.24	-0.697	0.11284	.	0.452091	0.27415	N	0.019472	T	0.18593	0.0446	N	0.12746	0.255	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.03394	-1.1041	10	0.52906	T	0.07	-9.5948	3.0332	0.06113	0.1591:0.3905:0.3172:0.1332	.	49	Q96AJ1	CLUA1_HUMAN	H	49	ENSP00000344392:Q49H	ENSP00000344392:Q49H	Q	+	3	2	CLUAP1	3496344	1.000000	0.71417	0.996000	0.52242	0.060000	0.15804	0.862000	0.27899	0.037000	0.15575	0.557000	0.71058	CAG		0.478	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
CLUAP1	23059	broad.mit.edu	37	16	3569974	3569974	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3569974C>T	ENST00000576634.1	+	7	795	c.651C>T	c.(649-651)atC>atT	p.I217I	CLUAP1_ENST00000417763.2_Silent_p.I51I|CLUAP1_ENST00000341633.5_Silent_p.I217I|CLUAP1_ENST00000571025.1_Silent_p.I217I|CLUAP1_ENST00000572600.1_Silent_p.I51I|CLUAP1_ENST00000445795.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	217					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.I217I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AAGCCAAAATCGAAAAGAGAA	0.383																																					p.I51I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	16						.						102.0	104.0	103.0					16																	3569974		2197	4300	6497	3509975	SO:0001819	synonymous_variant	23059	exon3			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.651C>T	16.37:g.3569974C>T			3509975	NM_024793	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Silent	SNP	ENST00000576634.1	37	CCDS32381.1																																																																																				0.383	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
SLX4	84464	broad.mit.edu	37	16	3640008	3640008	+	Missense_Mutation	SNP	C	C	T	rs202032197		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3640008C>T	ENST00000294008.3	-	12	4271	c.3631G>A	c.(3631-3633)Gaa>Aaa	p.E1211K		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1211	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.E1211K(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACAGCTTCGCTTCTTGGT	0.557								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17175	0.0		0.001	False		,,,				2504	0.0				p.E1211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3631A	16						.						60.0	63.0	62.0					16																	3640008		2197	4300	6497	3580009	SO:0001583	missense	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3631G>A	16.37:g.3640008C>T	ENSP00000294008:p.Glu1211Lys		3580009	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.52	1.662284	0.29515	.	.	ENSG00000188827	ENST00000294008	T	0.19394	2.15	6.07	4.12	0.48240	.	1.069720	0.07172	N	0.852525	T	0.17450	0.0419	L	0.56769	1.78	0.09310	N	1	P	0.50710	0.938	B	0.35607	0.206	T	0.16482	-1.0401	10	0.15499	T	0.54	.	6.2413	0.20793	0.0:0.6805:0.154:0.1655	.	1211	Q8IY92	SLX4_HUMAN	K	1211	ENSP00000294008:E1211K	ENSP00000294008:E1211K	E	-	1	0	SLX4	3580009	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.730000	0.26043	0.893000	0.36288	0.655000	0.94253	GAA		0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SLX4	84464	broad.mit.edu	37	16	3640612	3640612	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3640612G>A	ENST00000294008.3	-	12	3667	c.3027C>T	c.(3025-3027)ggC>ggT	p.G1009G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1009	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.G1009G(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCTGACAGCGCCACTTTGTT	0.597								Direct reversal of damage																													p.G1009G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3027T	16						.						66.0	67.0	66.0					16																	3640612		2197	4300	6497	3580613	SO:0001819	synonymous_variant	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3027C>T	16.37:g.3640612G>A			3580613	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.597	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SLX4	84464	broad.mit.edu	37	16	3641293	3641293	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3641293G>A	ENST00000294008.3	-	12	2986	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	782	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.L782L(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACAGGTGAACGAGCTCACTCA	0.592								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.L782L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2346T	16						.						71.0	70.0	70.0					16																	3641293		2197	4300	6497	3581294	SO:0001819	synonymous_variant	84464	exon12			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2346C>T	16.37:g.3641293G>A		612	3581294	NM_032444	Q69YT8|Q8TF15|Q96JP1	Silent	SNP	ENST00000294008.3	37	CCDS10506.2																																																																																				0.592	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
SLX4	84464	broad.mit.edu	37	16	3652140	3652140	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3652140C>T	ENST00000294008.3	-	4	1569	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	310	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R310Q(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGTTCCCTTCGGGTCACGTT	0.567								Direct reversal of damage																													p.R310Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929A	16						.						114.0	98.0	103.0					16																	3652140		2197	4300	6497	3592141	SO:0001583	missense	84464	exon4			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.929G>A	16.37:g.3652140C>T	ENSP00000294008:p.Arg310Gln		3592141	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849093	0.71603	.	.	ENSG00000188827	ENST00000294008	T	0.01854	4.6	5.83	5.83	0.93111	.	0.152155	0.45361	D	0.000367	T	0.09862	0.0242	L	0.58810	1.83	0.28740	N	0.902041	D	0.89917	1.0	D	0.81914	0.995	T	0.01071	-1.1461	10	0.56958	D	0.05	.	13.6264	0.62168	0.1549:0.8451:0.0:0.0	.	310	Q8IY92	SLX4_HUMAN	Q	310	ENSP00000294008:R310Q	ENSP00000294008:R310Q	R	-	2	0	SLX4	3592141	0.997000	0.39634	0.199000	0.23439	0.368000	0.29767	4.305000	0.59110	2.769000	0.95229	0.655000	0.94253	CGA		0.567	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
TRAP1	10131	broad.mit.edu	37	16	3725373	3725373	+	Silent	SNP	G	G	A	rs377042927		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3725373G>A	ENST00000246957.5	-	8	928	c.840C>T	c.(838-840)ttC>ttT	p.F280F	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000575671.1_Silent_p.F71F|TRAP1_ENST00000538171.1_Silent_p.F227F	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	280					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)	p.F280F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GGAAGCTGACGAAGTTGCTGT	0.488																																					p.F280F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	16						.	G		0,4394		0,0,2197	164.0	121.0	136.0		840	-10.5	0.4	16		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRAP1	NM_016292.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		280/705	3725373	1,12993	2197	4300	6497	3665374	SO:0001819	synonymous_variant	10131	exon8			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.840C>T	16.37:g.3725373G>A			3665374	NM_016292	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	CCDS10508.1																																																																																				0.488	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292	
CREBBP	1387	broad.mit.edu	37	16	3779578	3779578	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3779578C>T	ENST00000262367.5	-	31	6279	c.5470G>A	c.(5470-5472)Gcc>Acc	p.A1824T	CREBBP_ENST00000382070.3_Missense_Mutation_p.A1786T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1824	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1824T(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGCAGAGGGCGATGAGCTGC	0.602			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.A1824T			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G5470A	16						.						149.0	128.0	135.0					16																	3779578		2197	4300	6497	3719579	SO:0001583	missense	1387	exon31			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5470G>A	16.37:g.3779578C>T	ENSP00000262367:p.Ala1824Thr		3719579	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	14.62	2.590345	0.46214	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.82433	-1.61;-1.61	5.35	5.35	0.76521	Zinc finger, TAZ-type (5);	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	L	0.56280	1.765	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.89065	0.3465	10	0.48119	T	0.1	-18.0228	19.0688	0.93123	0.0:1.0:0.0:0.0	.	1854;1824	Q4LE28;Q92793	.;CBP_HUMAN	T	1824;1854;1786;359	ENSP00000262367:A1824T;ENSP00000371502:A1786T	ENSP00000262367:A1824T	A	-	1	0	CREBBP	3719579	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.755000	0.85180	2.513000	0.84729	0.591000	0.81541	GCC		0.602	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3900775	3900775	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3900775C>T	ENST00000262367.5	-	2	1130	c.321G>A	c.(319-321)ccG>ccA	p.P107P	CREBBP_ENST00000382070.3_Silent_p.P107P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	107					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P107P(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TAGCACTGTTCGGCTGCCCTT	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.P107P			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G321A	16						.						43.0	42.0	42.0					16																	3900775		2197	4300	6497	3840776	SO:0001819	synonymous_variant	1387	exon2			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.321G>A	16.37:g.3900775C>T			3840776	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	CCDS10509.1																																																																																				0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CREBBP	1387	broad.mit.edu	37	16	3900860	3900860	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:3900860C>A	ENST00000262367.5	-	2	1045	c.236G>T	c.(235-237)gGc>gTc	p.G79V	CREBBP_ENST00000382070.3_Missense_Mutation_p.G79V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	79					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G79V(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATACTAGAGCCGCTGCCTCC	0.547			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																														p.G79V			Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236T	16	GRCh37	CD052984	CREBBP	D		.						64.0	62.0	62.0					16																	3900860		2197	4300	6497	3840861	SO:0001583	missense	1387	exon2			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.236G>T	16.37:g.3900860C>A	ENSP00000262367:p.Gly79Val		3840861	NM_004380	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369903	0.42003	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83755	-1.69;-1.76	5.87	5.87	0.94306	.	0.266513	0.33401	N	0.004941	D	0.85031	0.5604	L	0.40543	1.245	0.80722	D	1	D;D	0.59357	0.962;0.985	P;P	0.58130	0.833;0.715	T	0.81313	-0.0989	10	0.22706	T	0.39	-9.1577	17.3643	0.87359	0.0:1.0:0.0:0.0	.	147;79	Q4LE28;Q92793	.;CBP_HUMAN	V	79;147;79	ENSP00000262367:G79V;ENSP00000371502:G79V	ENSP00000262367:G79V	G	-	2	0	CREBBP	3840861	0.996000	0.38824	0.973000	0.42090	0.639000	0.38242	3.313000	0.51935	2.774000	0.95407	0.650000	0.86243	GGC		0.547	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
ADCY9	115	broad.mit.edu	37	16	4164270	4164270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4164270C>A	ENST00000294016.3	-	2	1712	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	392					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E392*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATACTGACTTCTTCGATCTGC	0.502																																					p.E392X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1174T	16						.						92.0	92.0	92.0					16																	4164270		2197	4300	6497	4104271	SO:0001587	stop_gained	115	exon2			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1174G>T	16.37:g.4164270C>A	ENSP00000294016:p.Glu392*		4104271	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Nonsense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	44	10.642474	0.99443	.	.	ENSG00000162104	ENST00000294016	.	.	.	5.57	3.47	0.39725	.	0.119503	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	10.2862	0.43568	0.0:0.6603:0.2523:0.0874	.	.	.	.	X	392	.	ENSP00000294016:E392X	E	-	1	0	ADCY9	4104271	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	4.080000	0.57620	1.379000	0.46325	0.555000	0.69702	GAA		0.502	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
ADCY9	115	broad.mit.edu	37	16	4164759	4164759	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4164759C>T	ENST00000294016.3	-	2	1223	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	229					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E229K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AAGAGCACTTCGATGCACATG	0.542																																					p.E229K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G685A	16						.						72.0	58.0	63.0					16																	4164759		2197	4300	6497	4104760	SO:0001583	missense	115	exon2			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.685G>A	16.37:g.4164759C>T	ENSP00000294016:p.Glu229Lys		4104760	NM_001116	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980616	0.74474	.	.	ENSG00000162104	ENST00000294016	T	0.27557	1.66	5.41	4.43	0.53597	.	0.053889	0.64402	D	0.000001	T	0.32912	0.0845	M	0.81802	2.56	0.58432	D	0.999996	P	0.46578	0.88	B	0.32342	0.144	T	0.42378	-0.9455	10	0.41790	T	0.15	.	16.0341	0.80608	0.0:0.8653:0.1347:0.0	.	229	O60503	ADCY9_HUMAN	K	229	ENSP00000294016:E229K	ENSP00000294016:E229K	E	-	1	0	ADCY9	4104760	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	6.059000	0.71133	1.267000	0.44247	0.549000	0.68633	GAA		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
DNAJA3	9093	broad.mit.edu	37	16	4491408	4491408	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4491408C>T	ENST00000262375.6	+	4	539	c.462C>T	c.(460-462)taC>taT	p.Y154Y	DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000355296.4_Silent_p.Y154Y	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	154	J.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.Y154Y(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GGAAGCAGTACGATGCCTACG	0.582																																					p.Y154Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462T	16						.						84.0	78.0	80.0					16																	4491408		2197	4300	6497	4431409	SO:0001819	synonymous_variant	9093	exon4			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.462C>T	16.37:g.4491408C>T			4431409	NM_001135110	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	ENST00000262375.6	37	CCDS10515.1																																																																																				0.582	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1		
HMOX2	3163	broad.mit.edu	37	16	4555581	4555581	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4555581C>T	ENST00000570646.1	+	2	661	c.56C>T	c.(55-57)tCt>tTt	p.S19F	HMOX2_ENST00000575120.1_Intron|HMOX2_ENST00000414777.1_Missense_Mutation_p.S19F|HMOX2_ENST00000398595.3_Missense_Mutation_p.S19F|HMOX2_ENST00000219700.6_Missense_Mutation_p.S19F|HMOX2_ENST00000406590.2_Missense_Mutation_p.S19F|HMOX2_ENST00000458134.3_Missense_Mutation_p.S19F	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	19					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)	p.S19F(1)		endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AAAAAGAACTCTGGGGCCCTA	0.567																																					p.S19F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56T	16						.						79.0	74.0	76.0					16																	4555581		2196	4296	6492	4495582	SO:0001583	missense	3163	exon2				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.56C>T	16.37:g.4555581C>T	ENSP00000459214:p.Ser19Phe		4495582	NM_002134	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281309	0.01398	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.75	1.15	0.20763	.	0.962152	0.08693	N	0.907573	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35748	-0.9776	10	0.11182	T	0.66	0.0225	5.2127	0.15327	0.2272:0.6048:0.0:0.168	.	19;19	B3KSE0;P30519	.;HMOX2_HUMAN	F	19	ENSP00000385100:S19F;ENSP00000394103:S19F;ENSP00000219700:S19F;ENSP00000391637:S19F;ENSP00000381595:S19F	ENSP00000219700:S19F	S	+	2	0	HMOX2	4495582	0.000000	0.05858	0.009000	0.14445	0.047000	0.14425	0.843000	0.27640	0.765000	0.33221	0.655000	0.94253	TCT		0.567	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2		
HMOX2	3163	broad.mit.edu	37	16	4557857	4557857	+	Missense_Mutation	SNP	C	C	A	rs8045851		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4557857C>A	ENST00000570646.1	+	4	953	c.348C>A	c.(346-348)ttC>ttA	p.F116L	HMOX2_ENST00000575120.1_Missense_Mutation_p.F87L|HMOX2_ENST00000414777.1_Missense_Mutation_p.F116L|HMOX2_ENST00000398595.3_Missense_Mutation_p.F116L|HMOX2_ENST00000219700.6_Missense_Mutation_p.F116L|HMOX2_ENST00000406590.2_Missense_Mutation_p.F116L|HMOX2_ENST00000458134.3_Missense_Mutation_p.F116L	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	116					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)	p.F116L(1)		endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						TGGAGTATTTCTTTGGTGAAA	0.572																																					p.F116L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C348A	16						.						67.0	60.0	62.0					16																	4557857		2197	4300	6497	4497858	SO:0001583	missense	3163	exon4				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.348C>A	16.37:g.4557857C>A	ENSP00000459214:p.Phe116Leu		4497858	NM_002134	A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411975	0.62511	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.62	4.67	0.58626	Haem oxygenase-like, multi-helical (2);	0.041945	0.85682	N	0.000000	T	0.20129	0.0484	L	0.33137	0.985	0.80722	D	1	B;B	0.29085	0.232;0.232	B;B	0.34536	0.185;0.185	T	0.04522	-1.0945	10	0.62326	D	0.03	-8.0547	13.1213	0.59327	0.0:0.9222:0.0:0.0778	.	116;116	B3KSE0;P30519	.;HMOX2_HUMAN	L	116	ENSP00000385100:F116L;ENSP00000394103:F116L;ENSP00000219700:F116L;ENSP00000391637:F116L;ENSP00000381595:F116L	ENSP00000219700:F116L	F	+	3	2	HMOX2	4497858	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.573000	0.46007	1.379000	0.46325	0.561000	0.74099	TTC		0.572	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2		
ZNF267	10308	broad.mit.edu	37	16	31926823	31926823	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31926823G>A	ENST00000300870.10	+	4	1462	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	418					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R418H(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCCTTTCGCTGTAGTTCA	0.363																																					p.R418H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1253A	16						.						43.0	48.0	46.0					16																	31926823		2197	4297	6494	31834324	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1253G>A	16.37:g.31926823G>A	ENSP00000300870:p.Arg418His		31834324	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	4.243	0.044049	0.08196	.	.	ENSG00000185947	ENST00000300870	T	0.01005	5.45	0.458	-0.616	0.11583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.35723	1.085	0.09310	N	1	P	0.43542	0.81	B	0.29862	0.108	T	0.50101	-0.8867	9	0.35671	T	0.21	.	3.7552	0.08582	0.6257:0.0:0.3743:0.0	.	418	Q14586	ZN267_HUMAN	H	418	ENSP00000300870:R418H	ENSP00000300870:R418H	R	+	2	0	ZNF267	31834324	0.000000	0.05858	0.026000	0.17262	0.025000	0.11179	-2.107000	0.01337	-0.354000	0.08212	-0.350000	0.07774	CGC		0.363	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
MYLK3	91807	broad.mit.edu	37	16	46766411	46766411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:46766411C>A	ENST00000394809.4	-	4	1286	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	MYLK3_ENST00000536476.1_Nonsense_Mutation_p.E50*	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	391					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.E470*(1)|p.E391*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGGGTCTGTTCTCCGGGCTCA	0.701																																					p.E391X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1171T	16						.						26.0	29.0	28.0					16																	46766411		2203	4299	6502	45323912	SO:0001587	stop_gained	91807	exon4			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1171G>T	16.37:g.46766411C>A	ENSP00000378288:p.Glu391*		45323912	NM_182493	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Nonsense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	36	5.677979	0.96764	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	.	.	.	5.51	2.23	0.28157	.	1.290410	0.06019	N	0.650942	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	6.4777	0.22045	0.179:0.7003:0.0:0.1207	.	.	.	.	X	391;50	.	ENSP00000378288:E391X	E	-	1	0	MYLK3	45323912	0.000000	0.05858	0.001000	0.08648	0.349000	0.29174	-0.192000	0.09587	0.576000	0.29452	0.655000	0.94253	GAA		0.701	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	
C16orf87	388272	broad.mit.edu	37	16	46836877	46836877	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:46836877C>A	ENST00000285697.4	-	4	713	c.452G>T	c.(451-453)aGa>aTa	p.R151I	C16orf87_ENST00000394806.2_Missense_Mutation_p.R90I|C16orf87_ENST00000564250.1_5'Flank	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	151								p.R151I(2)		large_intestine(4)|urinary_tract(1)	5						GAGAATAAGTCTTTGATTGAT	0.368																																					p.R151I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G452T	16						.						81.0	80.0	81.0					16																	46836877		2203	4298	6501	45394378	SO:0001583	missense	388272	exon4				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.452G>T	16.37:g.46836877C>A	ENSP00000285697:p.Arg151Ile		45394378	NM_001001436	Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000155330	ENST00000285697;ENST00000394806	.	.	.	5.8	5.8	0.92144	.	0.042064	0.85682	D	0.000000	T	0.49372	0.1553	N	0.19112	0.55	0.80722	D	1	D	0.59357	0.985	P	0.47827	0.558	T	0.54931	-0.8219	9	0.87932	D	0	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	151	Q6PH81	CP087_HUMAN	I	151;90	.	ENSP00000285697:R151I	R	-	2	0	C16orf87	45394378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.506000	0.66993	2.740000	0.93945	0.650000	0.86243	AGA		0.368	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	
C16orf87	388272	broad.mit.edu	37	16	46843615	46843615	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:46843615T>G	ENST00000285697.4	-	3	507	c.246A>C	c.(244-246)gaA>gaC	p.E82D	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	82								p.E82D(1)		large_intestine(4)|urinary_tract(1)	5						TCTTTCTGTTTTCTAAATCTT	0.388																																					p.E82D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A246C	16						.						251.0	226.0	234.0					16																	46843615		2203	4300	6503	45401116	SO:0001583	missense	388272	exon3				CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.246A>C	16.37:g.46843615T>G	ENSP00000285697:p.Glu82Asp		45401116	NM_001001436	Q63HN9	Missense_Mutation	SNP	ENST00000285697.4	37	CCDS10724.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245504	0.80024	.	.	ENSG00000155330	ENST00000285697	.	.	.	6.06	1.4	0.22301	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	N	0.24115	0.695	0.50467	D	0.999872	D	0.58970	0.984	D	0.65443	0.935	T	0.47774	-0.9091	9	0.49607	T	0.09	.	9.3393	0.38069	0.0:0.3341:0.0:0.6659	.	82	Q6PH81	CP087_HUMAN	D	82	.	ENSP00000285697:E82D	E	-	3	2	C16orf87	45401116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.180000	0.32005	0.178000	0.19917	0.528000	0.53228	GAA		0.388	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436	
DNAJA2	10294	broad.mit.edu	37	16	46998608	46998608	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:46998608C>A	ENST00000317089.5	-	6	904	c.689G>T	c.(688-690)aGa>aTa	p.R230I		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	230					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R230I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GAATGTAATTCTCTGTCCATG	0.423																																					p.R230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689T	16						.						207.0	193.0	198.0					16																	46998608		2203	4300	6503	45556109	SO:0001583	missense	10294	exon6			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.689G>T	16.37:g.46998608C>A	ENSP00000314030:p.Arg230Ile		45556109	NM_005880	B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076893	0.76415	.	.	ENSG00000069345	ENST00000317089	T	0.44482	0.92	6.17	5.13	0.70059	HSP40/DnaJ peptide-binding (1);	0.081748	0.85682	D	0.000000	T	0.53642	0.1809	M	0.85462	2.755	0.80722	D	1	P	0.48998	0.918	P	0.44561	0.453	T	0.64829	-0.6315	10	0.87932	D	0	-18.4225	15.1437	0.72630	0.0:0.9283:0.0:0.0717	.	230	O60884	DNJA2_HUMAN	I	230	ENSP00000314030:R230I	ENSP00000314030:R230I	R	-	2	0	DNAJA2	45556109	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.401000	0.59716	1.463000	0.47967	0.655000	0.94253	AGA		0.423	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2		
MGRN1	23295	broad.mit.edu	37	16	4707316	4707316	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4707316C>A	ENST00000399577.5	+	5	606	c.513C>A	c.(511-513)ttC>ttA	p.F171L	MGRN1_ENST00000588994.1_Missense_Mutation_p.F171L|MGRN1_ENST00000262370.7_Missense_Mutation_p.F171L|MGRN1_ENST00000415496.1_Missense_Mutation_p.F171L|MGRN1_ENST00000586183.1_Missense_Mutation_p.F171L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	171					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F171L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GCCAGCAGTTCTCCCTGCCCT	0.592																																					p.F171L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C513A	16						.						84.0	89.0	87.0					16																	4707316		2043	4177	6220	4647317	SO:0001583	missense	23295	exon5			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.513C>A	16.37:g.4707316C>A	ENSP00000382487:p.Phe171Leu		4647317	NM_001142291	A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605937	0.66445	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.22	4.27	0.50696	.	0.045491	0.85682	D	0.000000	T	0.46190	0.1380	M	0.88775	2.98	0.80722	D	1	B;P;B;B;P;B	0.48998	0.056;0.907;0.025;0.12;0.918;0.033	B;B;B;B;P;B	0.45971	0.135;0.382;0.033;0.153;0.499;0.064	T	0.58053	-0.7704	10	0.66056	D	0.02	-34.4473	12.682	0.56926	0.0:0.919:0.0:0.081	.	171;171;171;171;171;171	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	L	171	ENSP00000262370:F171L;ENSP00000382487:F171L;ENSP00000393311:F171L;ENSP00000443810:F171L	ENSP00000262370:F171L	F	+	3	2	MGRN1	4647317	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.969000	0.56816	1.196000	0.43129	0.561000	0.74099	TTC		0.592	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2		
MGRN1	23295	broad.mit.edu	37	16	4723613	4723613	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:4723613G>A	ENST00000399577.5	+	10	1003	c.910G>A	c.(910-912)Gac>Aac	p.D304N	MGRN1_ENST00000588994.1_Missense_Mutation_p.D304N|MGRN1_ENST00000262370.7_Missense_Mutation_p.D304N|MGRN1_ENST00000415496.1_Missense_Mutation_p.D305N|MGRN1_ENST00000586183.1_Missense_Mutation_p.D304N|MGRN1_ENST00000588015.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	304					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D304N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCCTGCGCCGACACGCTGCG	0.637																																					p.D305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913A	16						.						66.0	75.0	72.0					16																	4723613		2197	4299	6496	4663614	SO:0001583	missense	23295	exon10			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.910G>A	16.37:g.4723613G>A	ENSP00000382487:p.Asp304Asn		4663614	NM_001142291	A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185317	0.94885	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-0.2	4.8	4.8	0.61643	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	L	0.33753	1.03	0.80722	D	1	P;D;D;D;B;D	0.71674	0.796;0.992;0.998;0.998;0.056;0.987	B;P;P;D;B;P	0.64687	0.34;0.844;0.904;0.928;0.027;0.853	T	0.82214	-0.0568	10	0.46703	T	0.11	-39.8457	16.4203	0.83755	0.0:0.0:1.0:0.0	.	304;304;304;305;304;304	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	N	304;304;305;304	ENSP00000262370:D304N;ENSP00000382487:D304N;ENSP00000393311:D305N;ENSP00000443810:D304N	ENSP00000262370:D304N	D	+	1	0	MGRN1	4663614	1.000000	0.71417	0.938000	0.37757	0.865000	0.49528	9.770000	0.98971	2.215000	0.71742	0.436000	0.28706	GAC		0.637	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2		
PHKB	5257	broad.mit.edu	37	16	47683049	47683049	+	Silent	SNP	G	G	A	rs201607512		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:47683049G>A	ENST00000323584.5	+	18	1755	c.1731G>A	c.(1729-1731)ccG>ccA	p.P577P	PHKB_ENST00000566044.1_Silent_p.P570P|PHKB_ENST00000455779.1_Silent_p.P570P|PHKB_ENST00000299167.8_Silent_p.P577P	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	577					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.P577P(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTTGTTACCCGATTATTTTCG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18938	0.0		0.001	False		,,,				2504	0.0				p.P570P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1710A	16						.	G	,	0,4402		0,0,2201	180.0	166.0	171.0		1731,1710	1.4	1.0	16		171	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PHKB	NM_000293.2,NM_001031835.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	577/1094,570/1087	47683049	1,13001	2201	4300	6501	46240550	SO:0001819	synonymous_variant	5257	exon19				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1731G>A	16.37:g.47683049G>A			46240550	NM_001031835	Q8N4T5	Silent	SNP	ENST00000323584.5	37	CCDS10729.1																																																																																				0.363	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
ABCC12	94160	broad.mit.edu	37	16	48122519	48122519	+	Missense_Mutation	SNP	C	C	T	rs372800149		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:48122519C>T	ENST00000311303.3	-	24	3757	c.3412G>A	c.(3412-3414)Gac>Aac	p.D1138N	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1138	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.D1138N(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCAGGCTGTCGAGAACAAGG	0.517																																					p.D1138N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3412A	16						.	C	ASN/ASP	0,4402		0,0,2201	121.0	106.0	111.0		3412	-5.2	0.0	16		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC12	NM_033226.2	23	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1138/1360	48122519	1,13001	2201	4300	6501	46680020	SO:0001583	missense	94160	exon24			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3412G>A	16.37:g.48122519C>T	ENSP00000311030:p.Asp1138Asn		46680020	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	2.256	-0.370310	0.05069	0.0	1.16E-4	ENSG00000140798	ENST00000311303	D	0.93953	-3.32	5.73	-5.16	0.02857	ABC transporter-like (1);	0.705245	0.14265	N	0.330553	T	0.82006	0.4943	N	0.12961	0.28	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.68311	-0.5442	10	0.30078	T	0.28	.	7.8666	0.29541	0.0:0.1481:0.3272:0.5247	.	1138	Q96J65	MRP9_HUMAN	N	1138	ENSP00000311030:D1138N	ENSP00000311030:D1138N	D	-	1	0	ABCC12	46680020	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.721000	0.04963	-0.744000	0.04778	0.655000	0.94253	GAC		0.517	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC12	94160	broad.mit.edu	37	16	48145777	48145777	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:48145777C>A	ENST00000311303.3	-	14	2379	c.2034G>T	c.(2032-2034)gaG>gaT	p.E678D	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.E678D	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	678	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E678D(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTCACAAATCTCTCCATCTT	0.438																																					p.E678D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2034T	16						.						110.0	105.0	107.0					16																	48145777		2201	4300	6501	46703278	SO:0001583	missense	94160	exon14			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2034G>T	16.37:g.48145777C>A	ENSP00000311030:p.Glu678Asp		46703278	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	6.329	0.428751	0.11987	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.88277	-2.36;-2.36	5.56	2.44	0.29823	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.176539	0.48286	D	0.000186	T	0.80934	0.4719	L	0.46567	1.45	0.80722	D	1	B	0.20164	0.042	B	0.24394	0.053	T	0.65952	-0.6043	10	0.20046	T	0.44	.	2.8777	0.05636	0.1322:0.4294:0.2871:0.1513	.	678	Q96J65	MRP9_HUMAN	D	678;678;620	ENSP00000311030:E678D;ENSP00000401855:E678D	ENSP00000311030:E678D	E	-	3	2	ABCC12	46703278	0.919000	0.31177	0.995000	0.50966	0.073000	0.16967	0.266000	0.18534	0.259000	0.21709	-0.268000	0.10319	GAG		0.438	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC12	94160	broad.mit.edu	37	16	48174610	48174610	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:48174610G>T	ENST00000311303.3	-	4	990	c.645C>A	c.(643-645)atC>atA	p.I215I	ABCC12_ENST00000416054.1_Silent_p.I215I|ABCC12_ENST00000448542.1_Silent_p.I215I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	215	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.I215I(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGCCAACAGAGATGTGGGTCA	0.522																																					p.I215I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645A	16						.						120.0	123.0	122.0					16																	48174610		2201	4300	6501	46732111	SO:0001819	synonymous_variant	94160	exon4			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.645C>A	16.37:g.48174610G>T			46732111	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	CCDS10730.1																																																																																				0.522	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
ABCC11	85320	broad.mit.edu	37	16	48226448	48226448	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:48226448T>C	ENST00000394747.1	-	19	3038	c.2689A>G	c.(2689-2691)Aac>Gac	p.N897D	ABCC11_ENST00000394748.1_Missense_Mutation_p.N897D|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.N897D|ABCC11_ENST00000356608.2_Missense_Mutation_p.N897D	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	897	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.N897D(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGAGCTTGTTGTGCAGGGCC	0.527																																					p.N897D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2689G	16						.						81.0	77.0	78.0					16																	48226448		2201	4300	6501	46783949	SO:0001583	missense	85320	exon20			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2689A>G	16.37:g.48226448T>C	ENSP00000378230:p.Asn897Asp		46783949	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	T	6.229	0.410301	0.11812	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.07	0.268	0.15626	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.511393	0.22217	N	0.063007	T	0.77857	0.4193	N	0.25647	0.755	0.80722	D	1	B;B	0.28880	0.009;0.226	B;B	0.34038	0.016;0.174	T	0.62784	-0.6781	10	0.07990	T	0.79	-12.7562	7.6859	0.28540	0.0:0.3373:0.0:0.6627	.	897;897	Q96J66-2;Q96J66	.;ABCCB_HUMAN	D	897	ENSP00000311326:N897D;ENSP00000349017:N897D;ENSP00000378231:N897D;ENSP00000378230:N897D	ENSP00000311326:N897D	N	-	1	0	ABCC11	46783949	0.125000	0.22332	0.252000	0.24328	0.305000	0.27757	-0.606000	0.05654	0.106000	0.17784	0.460000	0.39030	AAC		0.527	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
SIAH1	6477	broad.mit.edu	37	16	48396298	48396298	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:48396298C>T	ENST00000380006.2	-	1	1495	c.42G>A	c.(40-42)tcG>tcA	p.S14S	SIAH1_ENST00000356721.3_Silent_p.S45S|SIAH1_ENST00000573005.1_5'Flank|SIAH1_ENST00000394725.2_Silent_p.S14S			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	14					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S14S(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GTGGACACTTCGAGGTACCGG	0.453																																					p.S14S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	16						.						84.0	77.0	80.0					16																	48396298		2200	4300	6500	46953799	SO:0001819	synonymous_variant	6477	exon2			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.42G>A	16.37:g.48396298C>T			46953799	NM_003031	A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	CCDS10735.1																																																																																				0.453	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12		
C16orf78	123970	broad.mit.edu	37	16	49430394	49430394	+	Missense_Mutation	SNP	G	G	A	rs16947350	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49430394G>A	ENST00000299191.3	+	4	572	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	152			R -> Q (in dbSNP:rs16947350).			nucleus (GO:0005634)		p.R152Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCATTCCGTCGACAAAGCATT	0.498													G|||	196	0.0391374	0.143	0.0072	5008	,	,		20913	0.0		0.001	False		,,,				2504	0.001				p.R152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	16						.	G	GLN/ARG	562,3836	252.7+/-259.0	31,500,1668	103.0	94.0	97.0		455	2.1	0.0	16	dbSNP_123	97	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C16orf78	NM_144602.2	43	31,502,5966	AA,AG,GG		0.0233,12.7785,4.3391	probably-damaging	152/266	49430394	564,12434	2199	4300	6499	47987895	SO:0001583	missense	123970	exon4			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.455G>A	16.37:g.49430394G>A	ENSP00000299191:p.Arg152Gln		47987895	NM_144602		Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	58	0.026556776556776556	54	0.10975609756097561	3	0.008287292817679558	0	0.0	1	0.0013192612137203166	G	18.49	3.636061	0.67130	0.127785	2.33E-4	ENSG00000166152	ENST00000299191	T	0.60171	0.21	5.38	2.14	0.27477	.	0.417296	0.17889	N	0.158593	T	0.00695	0.0023	M	0.67953	2.075	0.09310	N	1	P	0.51057	0.941	B	0.43082	0.407	T	0.00883	-1.1528	9	.	.	.	-19.9266	5.2188	0.15358	0.1843:0.1693:0.6465:0.0	rs16947350;rs52836340;rs57356274;rs16947350	152	Q8WTQ4	CP078_HUMAN	Q	152	ENSP00000299191:R152Q	.	R	+	2	0	C16orf78	47987895	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.249000	0.18216	0.739000	0.32628	0.655000	0.94253	CGA		0.498	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602	
ZNF423	23090	broad.mit.edu	37	16	49559343	49559343	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49559343G>T	ENST00000561648.1	-	6	3693	c.3640C>A	c.(3640-3642)Ctc>Atc	p.L1214I	ZNF423_ENST00000567169.1_Missense_Mutation_p.L1097I|ZNF423_ENST00000535559.1_Missense_Mutation_p.L1097I|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1214I|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1154I|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1154I|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1154I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1214					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1214I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGTGACAGAGGAGCTTGGCC	0.572																																					p.L1214I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3640A	16						.						116.0	95.0	102.0					16																	49559343		2199	4300	6499	48116844	SO:0001583	missense	23090	exon7			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3640C>A	16.37:g.49559343G>T	ENSP00000455426:p.Leu1214Ile		48116844	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539862	0.65085	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28454	1.61;1.61	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000008	T	0.30916	0.0780	N	0.17082	0.46	0.37885	D	0.930527	D	0.55800	0.973	P	0.55824	0.785	T	0.10590	-1.0623	9	.	.	.	-27.4849	12.4816	0.55847	0.0765:0.0:0.9235:0.0	.	1214	Q2M1K9	ZN423_HUMAN	I	1214;1097	ENSP00000262383:L1214I;ENSP00000442321:L1097I	.	L	-	1	0	ZNF423	48116844	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.491000	0.73649	2.521000	0.84997	0.462000	0.41574	CTC		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
ZNF423	23090	broad.mit.edu	37	16	49670461	49670461	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49670461C>T	ENST00000561648.1	-	4	2655	c.2602G>A	c.(2602-2604)Gca>Aca	p.A868T	ZNF423_ENST00000567169.1_Missense_Mutation_p.A751T|ZNF423_ENST00000535559.1_Missense_Mutation_p.A751T|ZNF423_ENST00000262383.2_Missense_Mutation_p.A868T|ZNF423_ENST00000562871.1_Missense_Mutation_p.A808T|ZNF423_ENST00000563137.2_Missense_Mutation_p.A808T|ZNF423_ENST00000562520.1_Missense_Mutation_p.A808T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	868					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A868T(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTGTTAGGTGCCTCAGGGTTC	0.622																																					p.A868T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2602A	16						.						76.0	67.0	70.0					16																	49670461		2198	4300	6498	48227962	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2602G>A	16.37:g.49670461C>T	ENSP00000455426:p.Ala868Thr		48227962	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	5.400	0.259046	0.10239	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08546	3.08;3.12	4.66	4.66	0.58398	.	0.348047	0.33290	N	0.005066	T	0.05090	0.0136	N	0.17082	0.46	0.30328	N	0.786939	B	0.02656	0.0	B	0.04013	0.001	T	0.19614	-1.0300	9	.	.	.	-22.0685	9.0893	0.36601	0.0:0.8605:0.0:0.1395	.	868	Q2M1K9	ZN423_HUMAN	T	868;751	ENSP00000262383:A868T;ENSP00000442321:A751T	.	A	-	1	0	ZNF423	48227962	0.129000	0.22400	0.984000	0.44739	0.189000	0.23516	0.115000	0.15540	2.153000	0.67306	0.561000	0.74099	GCA		0.622	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
ZNF423	23090	broad.mit.edu	37	16	49670971	49670971	+	Missense_Mutation	SNP	C	C	T	rs148732968		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49670971C>T	ENST00000561648.1	-	4	2145	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	ZNF423_ENST00000567169.1_Missense_Mutation_p.D581N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D581N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D698N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D638N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D638N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D638N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	698					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D698N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AATTGCTTGTCGCAGCTCTCG	0.557																																					p.D698N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2092A	16						.	C	ASN/ASP	0,4396		0,0,2198	95.0	94.0	94.0		2092	4.8	1.0	16	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF423	NM_015069.2	23	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	698/1285	49670971	1,12995	2198	4300	6498	48228472	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2092G>A	16.37:g.49670971C>T	ENSP00000455426:p.Asp698Asn		48228472	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138002	0.37728	0.0	1.16E-4	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.52057	0.68;0.68	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	N	0.21583	0.68	0.53005	D	0.99996	D	0.89917	1.0	D	0.85130	0.997	T	0.54510	-0.8283	9	.	.	.	.	17.8561	0.88764	0.0:1.0:0.0:0.0	.	698	Q2M1K9	ZN423_HUMAN	N	698;581	ENSP00000262383:D698N;ENSP00000442321:D581N	.	D	-	1	0	ZNF423	48228472	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.089000	0.71384	2.212000	0.71576	0.561000	0.74099	GAC		0.557	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
ZNF423	23090	broad.mit.edu	37	16	49671592	49671592	+	Missense_Mutation	SNP	C	C	T	rs138661785		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49671592C>T	ENST00000561648.1	-	4	1524	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	ZNF423_ENST00000567169.1_Missense_Mutation_p.D374N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D374N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D491N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D431N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D431N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D431N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	491					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D491N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTATTGATGTCGGCGAACATC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		21693	0.0		0.001	False		,,,				2504	0.0				p.D491N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1471A	16						.	C	ASN/ASP	2,4394	2.1+/-5.4	0,2,2196	105.0	90.0	95.0		1471	4.8	0.9	16	dbSNP_134	95	0,8600		0,0,4300	no	missense	ZNF423	NM_015069.2	23	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	491/1285	49671592	2,12994	2198	4300	6498	48229093	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1471G>A	16.37:g.49671592C>T	ENSP00000455426:p.Asp491Asn		48229093	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.26	2.779441	0.49891	4.55E-4	0.0	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27720	1.65;1.65	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.28694	0.88	0.46901	D	0.999247	D	0.65815	0.995	P	0.62382	0.901	T	0.16660	-1.0395	9	.	.	.	.	17.895	0.88885	0.0:1.0:0.0:0.0	.	491	Q2M1K9	ZN423_HUMAN	N	491;374	ENSP00000262383:D491N;ENSP00000442321:D374N	.	D	-	1	0	ZNF423	48229093	1.000000	0.71417	0.929000	0.37066	0.980000	0.70556	7.818000	0.86416	2.216000	0.71823	0.561000	0.74099	GAC		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
ZNF423	23090	broad.mit.edu	37	16	49672433	49672433	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:49672433C>A	ENST00000561648.1	-	4	683	c.630G>T	c.(628-630)aaG>aaT	p.K210N	ZNF423_ENST00000567169.1_Missense_Mutation_p.K93N|ZNF423_ENST00000535559.1_Missense_Mutation_p.K93N|ZNF423_ENST00000262383.2_Missense_Mutation_p.K210N|ZNF423_ENST00000562871.1_Missense_Mutation_p.K150N|ZNF423_ENST00000563137.2_Missense_Mutation_p.K150N|ZNF423_ENST00000562520.1_Missense_Mutation_p.K150N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	210					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K210N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCAGGTGGATCTTGAGGTGGT	0.612																																					p.K210N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G630T	16						.						68.0	49.0	55.0					16																	49672433		2198	4300	6498	48229934	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.630G>T	16.37:g.49672433C>A	ENSP00000455426:p.Lys210Asn		48229934	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611925	0.46631	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08102	3.13;3.13	5.0	5.0	0.66597	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	0.12178	0.0296	N	0.13140	0.3	0.39736	D	0.971674	D	0.89917	1.0	D	0.91635	0.999	T	0.26710	-1.0095	9	.	.	.	.	8.8727	0.35325	0.0:0.8268:0.0:0.1732	.	210	Q2M1K9	ZN423_HUMAN	N	210;93	ENSP00000262383:K210N;ENSP00000442321:K93N	.	K	-	3	2	ZNF423	48229934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	2.331000	0.79229	0.561000	0.74099	AAG		0.612	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
HEATR3	55027	broad.mit.edu	37	16	50136224	50136224	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50136224G>A	ENST00000299192.7	+	14	1989	c.1798G>A	c.(1798-1800)Gca>Aca	p.A600T	HEATR3_ENST00000285767.4_Missense_Mutation_p.A514T|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	600								p.A600T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCTTGTGGTAGCAGGAGAAGC	0.398																																					p.A600T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1798A	16						.						187.0	167.0	174.0					16																	50136224		2198	4300	6498	48693725	SO:0001583	missense	55027	exon14			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1798G>A	16.37:g.50136224G>A	ENSP00000299192:p.Ala600Thr		48693725	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842589	0.32606	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.64618	-0.11;-0.11	5.49	3.48	0.39840	Armadillo-type fold (1);	0.425256	0.28766	N	0.014210	T	0.36358	0.0964	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.001	T	0.13791	-1.0496	10	0.16420	T	0.52	.	7.1747	0.25738	0.1438:0.0:0.7178:0.1383	.	514;600	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	T	514;600	ENSP00000285767:A514T;ENSP00000299192:A600T	ENSP00000285767:A514T	A	+	1	0	HEATR3	48693725	0.894000	0.30519	0.875000	0.34327	0.998000	0.95712	2.176000	0.42500	1.427000	0.47276	0.650000	0.86243	GCA		0.398	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
HEATR3	55027	broad.mit.edu	37	16	50136320	50136320	+	Nonsense_Mutation	SNP	G	G	T	rs149086832		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50136320G>T	ENST00000299192.7	+	14	2085	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	HEATR3_ENST00000285767.4_Nonsense_Mutation_p.E546*|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	632								p.E632*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGCTCTGAAAGAATTCCAGCC	0.398																																					p.E632X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1894T	16						.						65.0	70.0	69.0					16																	50136320		2198	4300	6498	48693821	SO:0001587	stop_gained	55027	exon14			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1894G>T	16.37:g.50136320G>T	ENSP00000299192:p.Glu632*		48693821	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Nonsense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	39	7.734084	0.98459	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	.	.	.	5.39	5.39	0.77823	.	0.210292	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.8304	0.57742	0.0751:0.0:0.9249:0.0	.	.	.	.	X	546;632	.	ENSP00000285767:E546X	E	+	1	0	HEATR3	48693821	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.446000	0.73460	2.697000	0.92050	0.650000	0.86243	GAA		0.398	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
ADCY7	113	broad.mit.edu	37	16	50343497	50343497	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50343497C>T	ENST00000394697.2	+	18	2440	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G	ADCY7_ENST00000254235.3_Silent_p.G700G|ADCY7_ENST00000538642.1_Silent_p.G700G|ADCY7_ENST00000566433.2_Silent_p.G700G|ADCY7_ENST00000537579.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	700					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.G700G(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGCCTGTTGGCAATGAGACAG	0.622																																					p.G700G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2100T	16						.						55.0	53.0	54.0					16																	50343497		2198	4300	6498	48900998	SO:0001819	synonymous_variant	113	exon17			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2100C>T	16.37:g.50343497C>T			48900998	NM_001114	A0AVA6	Silent	SNP	ENST00000394697.2	37	CCDS10741.1																																																																																				0.622	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
ADCY7	113	broad.mit.edu	37	16	50346004	50346004	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50346004G>A	ENST00000394697.2	+	21	2846	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	ADCY7_ENST00000254235.3_Missense_Mutation_p.E836K			P51828	ADCY7_HUMAN	adenylate cyclase 7	836					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E836K(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GAAGGAGCACGAGGAGTTTGA	0.532																																					p.E836K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2506A	16						.						113.0	105.0	107.0					16																	50346004		2198	4300	6498	48903505	SO:0001583	missense	113	exon20			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2506G>A	16.37:g.50346004G>A	ENSP00000378187:p.Glu836Lys		48903505	NM_001114	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399310	0.96030	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	D;D	0.83755	-1.76;-1.76	4.77	4.77	0.60923	.	0.000000	0.44688	U	0.000440	D	0.90328	0.6974	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.89808	0.3980	10	0.40728	T	0.16	.	17.9745	0.89123	0.0:0.0:1.0:0.0	.	836	P51828	ADCY7_HUMAN	K	836	ENSP00000378187:E836K;ENSP00000254235:E836K	ENSP00000254235:E836K	E	+	1	0	ADCY7	48903505	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.657000	0.98554	2.470000	0.83445	0.462000	0.41574	GAG		0.532	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		
NKD1	85407	broad.mit.edu	37	16	50666240	50666240	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50666240C>T	ENST00000268459.3	+	9	968	c.744C>T	c.(742-744)tgC>tgT	p.C248C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	248					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C248C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACCACCATTGCGTAGATGAGA	0.567																																					p.C248C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744T	16						.						90.0	72.0	78.0					16																	50666240		2198	4300	6498	49223741	SO:0001819	synonymous_variant	85407	exon9			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.744C>T	16.37:g.50666240C>T			49223741	NM_033119	B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	CCDS10743.1																																																																																				0.567	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
NOD2	64127	broad.mit.edu	37	16	50746277	50746277	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50746277G>A	ENST00000300589.2	+	4	2560	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	819					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.A819T(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCTGCAAGGCTCTGTAGTG	0.612																																					p.A819T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2455A	16						.						107.0	113.0	111.0					16																	50746277		2198	4300	6498	49303778	SO:0001583	missense	64127	exon4			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2455G>A	16.37:g.50746277G>A	ENSP00000300589:p.Ala819Thr		49303778	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.856089|3.856089	0.71834|0.71834	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589|ENST00000534057	T|.	0.49139|.	0.79|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.074217|.	0.53938|.	D|.	0.000049|.	T|T	0.56381|0.56381	0.1981|0.1981	L|L	0.31752|0.31752	0.955|0.955	0.38611|0.38611	D|D	0.950907|0.950907	D;D;D|.	0.89917|.	1.0;0.991;1.0|.	D;P;D|.	0.87578|.	0.997;0.853;0.998|.	T|T	0.55829|0.55829	-0.8079|-0.8079	10|5	0.21540|.	T|.	0.41|.	.|.	16.4535|16.4535	0.84003|0.84003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	603;792;819|.	D6CHF9;Q9HC29-2;Q9HC29|.	.;.;NOD2_HUMAN|.	T|D	792;819|58	ENSP00000300589:A819T|.	ENSP00000300589:A819T|.	A|G	+|+	1|2	0|0	NOD2|NOD2	49303778|49303778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.117000|4.117000	0.57877|0.57877	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	GCT|GGC		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
NOD2	64127	broad.mit.edu	37	16	50750503	50750503	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50750503G>A	ENST00000300589.2	+	5	2573	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	823					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R823H(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TTTAGTTTGCGCGATAACAAT	0.408																																					p.R823H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2468A	16						.						70.0	64.0	66.0					16																	50750503		2198	4300	6498	49308004	SO:0001583	missense	64127	exon5			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2468G>A	16.37:g.50750503G>A	ENSP00000300589:p.Arg823His		49308004	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495269	0.85069	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.54479	0.57	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	T	0.73505	0.3595	M	0.80746	2.51	0.53005	D	0.999967	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73652	-0.3915	10	0.44086	T	0.13	.	15.4789	0.75508	0.0:0.0:1.0:0.0	.	796;823	Q9HC29-2;Q9HC29	.;NOD2_HUMAN	H	796;823	ENSP00000300589:R823H	ENSP00000300589:R823H	R	+	2	0	NOD2	49308004	1.000000	0.71417	0.980000	0.43619	0.747000	0.42532	5.080000	0.64437	2.719000	0.93026	0.555000	0.69702	CGC		0.408	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
CYLD	1540	broad.mit.edu	37	16	50783748	50783748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50783748G>T	ENST00000427738.3	+	2	344	c.139G>T	c.(139-141)Gga>Tga	p.G47*	CYLD_ENST00000569418.1_Nonsense_Mutation_p.G47*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.G47*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.G47*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.G47*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.G47*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.G47*|CYLD_ENST00000540145.1_Nonsense_Mutation_p.G47*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	47					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G47*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGGAAGTATAGGACAGTATAT	0.403			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																												p.G47X		yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G139T	16						.						107.0	102.0	104.0					16																	50783748		1855	4094	5949	49341249	SO:0001587	stop_gained	1540	exon4	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.139G>T	16.37:g.50783748G>T	ENSP00000392025:p.Gly47*		49341249	NM_015247	O94934|Q7L3N6|Q96EH0|Q9NZX9	Nonsense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474069	0.63737	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.87	5.87	0.94306	.	0.052737	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.5314	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	47	.	ENSP00000308928:G47X	G	+	1	0	CYLD	49341249	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.262000	0.78410	2.941000	0.99782	0.655000	0.94253	GGA		0.403	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
CYLD	1540	broad.mit.edu	37	16	50828330	50828330	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:50828330G>A	ENST00000427738.3	+	17	2882	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	CYLD_ENST00000569418.1_Missense_Mutation_p.D890N|CYLD_ENST00000564326.1_Missense_Mutation_p.D890N|CYLD_ENST00000566206.1_Missense_Mutation_p.D890N|CYLD_ENST00000311559.9_Missense_Mutation_p.D893N|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.D890N|CYLD_ENST00000568704.2_Missense_Mutation_p.D708N|CYLD_ENST00000540145.1_Missense_Mutation_p.D893N			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	893	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D893N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGCATGGCCGATCGGGATGG	0.473			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																												p.D893N		yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2677A	16						.						160.0	155.0	157.0					16																	50828330		1969	4172	6141	49385831	SO:0001583	missense	1540	exon19	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2677G>A	16.37:g.50828330G>A	ENSP00000392025:p.Asp893Asn		49385831	NM_015247	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227095	0.95173	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.37915	1.17;1.17;1.17	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.66520	-0.5903	10	0.87932	D	0	-24.8294	20.1615	0.98135	0.0:0.0:1.0:0.0	.	890;890	A8KAB0;Q9NQC7-2	.;.	N	893;893;890;890	ENSP00000445447:D893N;ENSP00000308928:D893N;ENSP00000381574:D890N	ENSP00000308928:D893N	D	+	1	0	CYLD	49385831	1.000000	0.71417	0.507000	0.27676	0.912000	0.54170	9.361000	0.97122	2.835000	0.97688	0.650000	0.86243	GAT		0.473	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
SALL1	6299	broad.mit.edu	37	16	51173681	51173681	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:51173681A>C	ENST00000251020.4	-	2	2485	c.2452T>G	c.(2452-2454)Ttt>Gtt	p.F818V	SALL1_ENST00000440970.1_Missense_Mutation_p.F721V|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	818					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F818V(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGTCATCAAAATTTTTCTCA	0.502																																					p.F818V	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2452G	16						.						130.0	138.0	135.0					16																	51173681		2198	4300	6498	49731182	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2452T>G	16.37:g.51173681A>C	ENSP00000251020:p.Phe818Val		49731182	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.782621	0.00079	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06608	3.28;3.28	5.2	5.2	0.72013	.	0.148969	0.64402	D	0.000009	T	0.05640	0.0148	L	0.36672	1.1	0.49389	D	0.999786	B	0.13594	0.008	B	0.08055	0.003	T	0.35968	-0.9767	10	0.14656	T	0.56	.	10.3705	0.44051	0.8537:0.0:0.0:0.1463	.	818	Q9NSC2	SALL1_HUMAN	V	818;721;782	ENSP00000251020:F818V;ENSP00000407914:F721V	ENSP00000251020:F818V	F	-	1	0	SALL1	49731182	1.000000	0.71417	0.979000	0.43373	0.077000	0.17291	2.768000	0.47645	1.976000	0.57569	0.248000	0.18094	TTT		0.502	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SEC14L5	9717	broad.mit.edu	37	16	5040860	5040860	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:5040860G>T	ENST00000251170.7	+	5	618	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	146	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.K146N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCTTGGAGAAGATCGCCATGA	0.522																																					p.K146N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	16						.						51.0	53.0	52.0					16																	5040860		2089	4214	6303	4980861	SO:0001583	missense	9717	exon5			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.438G>T	16.37:g.5040860G>T	ENSP00000251170:p.Lys146Asn		4980861	NM_014692		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495570	0.64186	.	.	ENSG00000103184	ENST00000251170	T	0.20332	2.08	4.37	2.2	0.27929	PRELI/MSF1 (2);	0.000000	0.64402	D	0.000006	T	0.47875	0.1469	M	0.88842	2.985	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.53472	-0.8434	10	0.87932	D	0	-21.9817	9.1924	0.37207	0.2623:0.0:0.7377:0.0	.	146	O43304	S14L5_HUMAN	N	146	ENSP00000251170:K146N	ENSP00000251170:K146N	K	+	3	2	SEC14L5	4980861	1.000000	0.71417	0.963000	0.40424	0.989000	0.77384	1.560000	0.36331	1.025000	0.39708	0.555000	0.69702	AAG		0.522	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
C16orf89	146556	broad.mit.edu	37	16	5105344	5105344	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:5105344G>T	ENST00000315997.5	-	6	972	c.771C>A	c.(769-771)ttC>ttA	p.F257L	C16orf89_ENST00000350219.4_Missense_Mutation_p.F295L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.F257L|C16orf89_ENST00000474471.3_Missense_Mutation_p.F289L|C16orf89_ENST00000422873.1_Missense_Mutation_p.F295L	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	257						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)	p.F295L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCATTCCACAGAACATGACTG	0.637																																					p.F257L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C771A	16						.						22.0	23.0	22.0					16																	5105344		1931	4128	6059	5045345	SO:0001583	missense	146556	exon6				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.771C>A	16.37:g.5105344G>T	ENSP00000324672:p.Phe257Leu		5045345	NM_001098514	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245794	0.39697	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.49	3.53	0.40419	.	0.270714	0.35585	N	0.003102	T	0.18718	0.0449	L	0.29908	0.895	0.31249	N	0.694221	B;B	0.24186	0.06;0.099	B;B	0.22753	0.018;0.041	T	0.14172	-1.0482	10	0.19147	T	0.46	-15.8073	7.45	0.27234	0.1897:0.0:0.8103:0.0	.	257;295	Q6UX73;G3V0F0	CP089_HUMAN;.	L	289;257;257;295;295;289	ENSP00000417158:F289L;ENSP00000420566:F257L;ENSP00000390402:F295L;ENSP00000283478:F295L	ENSP00000324672:F289L	F	-	3	2	C16orf89	5045345	0.988000	0.35896	0.997000	0.53966	0.995000	0.86356	0.012000	0.13287	1.310000	0.45006	0.557000	0.71058	TTC		0.637	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459	
SALL1	6299	broad.mit.edu	37	16	51175392	51175392	+	Silent	SNP	G	G	A	rs372297077		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:51175392G>A	ENST00000251020.4	-	2	774	c.741C>T	c.(739-741)atC>atT	p.I247I	SALL1_ENST00000440970.1_Silent_p.I150I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542																																					p.I247I	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	16						.	G	,	1,4395	2.1+/-5.4	0,1,2197	83.0	86.0	85.0		450,741	1.9	1.0	16		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	150/1228,247/1325	51175392	1,12995	2198	4300	6498	49732893	SO:0001819	synonymous_variant	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.741C>T	16.37:g.51175392G>A			49732893	NM_002968	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	CCDS10747.1																																																																																				0.542	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	broad.mit.edu	37	16	53260363	53260363	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53260363C>A	ENST00000398510.3	+	4	2069	c.1982C>A	c.(1981-1983)tCt>tAt	p.S661Y	CHD9_ENST00000566029.1_Missense_Mutation_p.S661Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S661Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S661Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	661	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S661Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTTAAAGGTTCTATGAAAATA	0.318																																					p.S661Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1982A	16						.						101.0	101.0	101.0					16																	53260363		1806	4068	5874	51817864	SO:0001583	missense	80205	exon5			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1982C>A	16.37:g.53260363C>A	ENSP00000381522:p.Ser661Tyr		51817864	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	14.76	2.631924	0.46944	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.65549	-0.16;-0.16	5.39	4.42	0.53409	.	0.220254	0.32055	N	0.006652	T	0.60470	0.2271	L	0.44542	1.39	0.09310	N	1	B;D;P;P	0.53312	0.186;0.959;0.79;0.867	B;P;B;B	0.49561	0.141;0.615;0.202;0.367	T	0.56007	-0.8050	10	0.62326	D	0.03	-4.6184	10.732	0.46102	0.1439:0.7083:0.1478:0.0	.	187;661;661;661	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	661;661;187	ENSP00000396345:S661Y;ENSP00000381522:S661Y	ENSP00000219084:S187Y	S	+	2	0	CHD9	51817864	0.940000	0.31905	0.153000	0.22517	0.688000	0.40055	1.829000	0.39121	1.234000	0.43709	0.655000	0.94253	TCT		0.318	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53342703	53342703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53342703C>T	ENST00000398510.3	+	33	7246	c.7159C>T	c.(7159-7161)Cga>Tga	p.R2387*	CHD9_ENST00000566029.1_Nonsense_Mutation_p.R2371*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R2371*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R2372*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2387	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R2388*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CACTCGGCTTCGAGAGCTTCA	0.443																																					p.R2371X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7111T	16						.						68.0	69.0	69.0					16																	53342703		1938	4154	6092	51900204	SO:0001587	stop_gained	80205	exon34			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7159C>T	16.37:g.53342703C>T	ENSP00000381522:p.Arg2387*		51900204	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	C	49	15.469321	0.99835	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	.	.	.	5.6	5.6	0.85130	.	0.000000	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.25	19.6229	0.95667	0.0:1.0:0.0:0.0	.	.	.	.	X	2372;2371;453	.	ENSP00000381522:R2371X	R	+	1	2	CHD9	51900204	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	7.415000	0.80131	2.648000	0.89879	0.561000	0.74099	CGA		0.443	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CHD9	80205	broad.mit.edu	37	16	53358659	53358659	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53358659T>G	ENST00000398510.3	+	38	8633	c.8546T>G	c.(8545-8547)aTt>aGt	p.I2849S	CHD9_ENST00000566029.1_Missense_Mutation_p.I2833S|CHD9_ENST00000564845.1_Missense_Mutation_p.I2833S|CHD9_ENST00000447540.1_Missense_Mutation_p.I2834S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2849					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I2850T(1)|p.I2850S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATTCCAGAATTAAAGATCAG	0.393																																					p.I2833S												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.T8498G	16						.						50.0	45.0	46.0					16																	53358659		1843	4086	5929	51916160	SO:0001583	missense	80205	exon39			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8546T>G	16.37:g.53358659T>G	ENSP00000381522:p.Ile2849Ser		51916160	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	T	0.175	-1.068176	0.01934	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.84944	-1.92	5.16	-1.88	0.07713	.	0.803304	0.10604	N	0.655262	T	0.67627	0.2913	N	0.08118	0	0.23174	N	0.998171	P;B;P;B	0.49447	0.495;0.003;0.924;0.003	B;B;B;B	0.43809	0.09;0.006;0.432;0.006	T	0.61584	-0.7033	10	0.16420	T	0.52	0.2066	7.9714	0.30130	0.0:0.1292:0.4786:0.3922	.	915;2834;2849;2833	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	2834;2833;915	ENSP00000396345:I2834S	ENSP00000381522:I2833S	I	+	2	0	CHD9	51916160	0.987000	0.35691	0.914000	0.36105	0.945000	0.59286	0.277000	0.18734	-0.593000	0.05844	-0.256000	0.11100	ATT		0.393	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RPGRIP1L	23322	broad.mit.edu	37	16	53639521	53639521	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53639521C>T	ENST00000379925.3	-	26	3757	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1202H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1156H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1190H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1236			R -> C (in MKS5; dbSNP:rs151332923). {ECO:0000269|PubMed:19430481}.		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R1236H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CACGGTGAAGCGAAGGCTGGT	0.522																																					p.R1156H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3467A	16						.						88.0	72.0	78.0					16																	53639521		2198	4300	6498	52197022	SO:0001583	missense	23322	exon24				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3707G>A	16.37:g.53639521C>T	ENSP00000369257:p.Arg1236His		52197022	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972987	0.74246	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.70749	-0.51;-0.51	5.81	5.81	0.92471	.	0.069655	0.64402	D	0.000018	T	0.75591	0.3870	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;P;P	0.65874	0.939;0.939;0.794;0.899	T	0.76785	-0.2831	10	0.72032	D	0.01	-6.6825	9.0708	0.36491	0.1481:0.7774:0.0:0.0745	.	1190;1190;1236;1156	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	1236;1156	ENSP00000369257:R1236H;ENSP00000262135:R1156H	ENSP00000262135:R1156H	R	-	2	0	RPGRIP1L	52197022	0.998000	0.40836	1.000000	0.80357	0.755000	0.42902	1.631000	0.37092	2.752000	0.94435	0.557000	0.71058	CGC		0.522	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
RPGRIP1L	23322	broad.mit.edu	37	16	53674994	53674994	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53674994G>T	ENST00000379925.3	-	19	2959	c.2909C>A	c.(2908-2910)cCt>cAt	p.P970H	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P970H|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.P970H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P970H|RPGRIP1L_ENST00000568009.1_5'Flank	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	970					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.P970H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTTATCTACAGGTGTTAAACG	0.353																																					p.P970H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2909A	16						.						121.0	99.0	107.0					16																	53674994		2198	4300	6498	52232495	SO:0001583	missense	23322	exon19				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2909C>A	16.37:g.53674994G>T	ENSP00000369257:p.Pro970His		52232495	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	3.605	-0.080840	0.07141	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77098	-0.85;-1.07	5.16	1.78	0.24846	.	0.791890	0.11807	N	0.527560	T	0.56202	0.1969	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.09022	0.0;0.001;0.002;0.001	B;B;B;B	0.11329	0.003;0.002;0.003;0.006	T	0.43228	-0.9404	10	0.37606	T	0.19	-0.317	3.8791	0.09071	0.0874:0.1366:0.5287:0.2473	.	970;970;970;970	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	970	ENSP00000369257:P970H;ENSP00000262135:P970H	ENSP00000262135:P970H	P	-	2	0	RPGRIP1L	52232495	0.002000	0.14202	0.010000	0.14722	0.956000	0.61745	0.875000	0.28079	0.606000	0.29965	0.591000	0.81541	CCT		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
RPGRIP1L	23322	broad.mit.edu	37	16	53682950	53682950	+	Nonsense_Mutation	SNP	G	G	A	rs267604575		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53682950G>A	ENST00000379925.3	-	16	2280	c.2230C>T	c.(2230-2232)Cga>Tga	p.R744*	RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.R744*|RPGRIP1L_ENST00000262135.4_Nonsense_Mutation_p.R744*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.R744*	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	744			R -> Q (in dbSNP:rs2302677).		camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R744*(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CGATAAAGTCGAATTGCTTGA	0.418																																					p.R744X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2230T	16						.						127.0	116.0	120.0					16																	53682950		2198	4300	6498	52240451	SO:0001587	stop_gained	23322	exon16				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2230C>T	16.37:g.53682950G>A	ENSP00000369257:p.Arg744*		52240451	NM_001127897	A0PJ88|Q9Y2K8	Nonsense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	39	7.454208	0.98296	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	6.08	4.0	0.46444	.	0.179987	0.33916	N	0.004430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1324	12.0768	0.53649	0.0:0.1007:0.6343:0.265	.	.	.	.	X	744	.	ENSP00000262135:R744X	R	-	1	2	RPGRIP1L	52240451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.651000	0.24873	1.566000	0.49654	-0.282000	0.10007	CGA		0.418	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
FTO	79068	broad.mit.edu	37	16	53860037	53860037	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:53860037G>A	ENST00000471389.1	+	3	607	c.385G>A	c.(385-387)Gag>Aag	p.E129K	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	129	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)	p.E129K(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AAAACACACCGAGGCTGAAAT	0.493																																					p.E129K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385A	16						.						58.0	54.0	55.0					16																	53860037		2198	4300	6498	52417538	SO:0001583	missense	79068	exon3			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.385G>A	16.37:g.53860037G>A	ENSP00000418823:p.Glu129Lys		52417538	NM_001080432	A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316870	0.23908	.	.	ENSG00000140718	ENST00000471389	T	0.77098	-1.07	5.46	2.36	0.29203	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.660516	0.17198	N	0.183235	T	0.58652	0.2137	L	0.27053	0.805	0.09310	N	0.999998	B	0.24533	0.105	B	0.17433	0.018	T	0.38045	-0.9679	10	0.20046	T	0.44	-0.994	4.9694	0.14108	0.286:0.2787:0.4353:0.0	.	129	Q9C0B1	FTO_HUMAN	K	129	ENSP00000418823:E129K	ENSP00000418823:E129K	E	+	1	0	FTO	52417538	0.754000	0.28360	0.003000	0.11579	0.382000	0.30200	2.184000	0.42575	0.650000	0.30769	0.650000	0.86243	GAG		0.493	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432	
IRX3	79191	broad.mit.edu	37	16	54318969	54318969	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:54318969C>T	ENST00000329734.3	-	2	1536	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	275					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R275H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCCATCCCTGCGCGCCGCCCC	0.642																																					p.R275H	GBM(143;1830 1866 4487 4646 37383)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	16						.						30.0	27.0	28.0					16																	54318969		2198	4297	6495	52876470	SO:0001583	missense	79191	exon2			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.824G>A	16.37:g.54318969C>T	ENSP00000331608:p.Arg275His		52876470	NM_024336	Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495505	0.12762	.	.	ENSG00000177508	ENST00000329734	T	0.52983	0.64	4.8	-2.51	0.06365	.	0.552403	0.18875	N	0.128721	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14643	-1.0465	10	0.19147	T	0.46	-1.1342	5.4358	0.16480	0.133:0.4738:0.0:0.3932	.	275	P78415	IRX3_HUMAN	H	275	ENSP00000331608:R275H	ENSP00000331608:R275H	R	-	2	0	IRX3	52876470	0.995000	0.38212	0.000000	0.03702	0.320000	0.28249	0.878000	0.28126	-0.683000	0.05190	-0.286000	0.09958	CGC		0.642	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2		
IRX5	10265	broad.mit.edu	37	16	54966652	54966652	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:54966652C>T	ENST00000394636.4	+	2	829	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Silent_p.F98F|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.F164F			P78411	IRX5_HUMAN	iroquois homeobox 5	164					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.F164F(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCACCTGGTTCGCCAACGCGC	0.597																																					p.F164F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	16						.						108.0	100.0	103.0					16																	54966652		2198	4300	6498	53524153	SO:0001819	synonymous_variant	10265	exon2			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.492C>T	16.37:g.54966652C>T			53524153	NM_005853	H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	CCDS10751.1																																																																																				0.597	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2		
MMP2	4313	broad.mit.edu	37	16	55517016	55517016	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:55517016C>T	ENST00000219070.4	+	2	858	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	MMP2_ENST00000570308.1_Missense_Mutation_p.P41S|MMP2_ENST00000437642.2_Missense_Mutation_p.P67S|MMP2_ENST00000543485.1_Missense_Mutation_p.P41S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	117	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.P117S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCCTCGCAAGCCCAAGTGGGA	0.597																																					p.P117S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349T	16						.						84.0	76.0	79.0					16																	55517016		2198	4300	6498	54074517	SO:0001583	missense	4313	exon2				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.349C>T	16.37:g.55517016C>T	ENSP00000219070:p.Pro117Ser		54074517	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516327	0.27123	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80480	-1.38;-1.38;-1.38	4.79	4.79	0.61399	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.353444	0.33959	N	0.004382	T	0.73536	0.3599	L	0.51422	1.61	0.80722	D	1	B;P	0.40534	0.267;0.72	B;B	0.36534	0.045;0.227	T	0.72616	-0.4239	10	0.07482	T	0.82	.	18.1835	0.89786	0.0:1.0:0.0:0.0	.	67;117	E9PE45;P08253	.;MMP2_HUMAN	S	117;41;67	ENSP00000219070:P117S;ENSP00000444143:P41S;ENSP00000394237:P67S	ENSP00000219070:P117S	P	+	1	0	MMP2	54074517	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.959000	0.70339	2.366000	0.80165	0.557000	0.71058	CCC		0.597	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
MMP2	4313	broad.mit.edu	37	16	55518029	55518029	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:55518029G>A	ENST00000219070.4	+	3	991	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	MMP2_ENST00000570308.1_Missense_Mutation_p.R85Q|MMP2_ENST00000437642.2_Missense_Mutation_p.R111Q|MMP2_ENST00000543485.1_Missense_Mutation_p.R85Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	161	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.R161Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CGGTTTTCTCGAATCCATGAT	0.547																																					p.R161Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.G482A	16						.						136.0	110.0	118.0					16																	55518029		2198	4300	6498	54075530	SO:0001583	missense	4313	exon3				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.482G>A	16.37:g.55518029G>A	ENSP00000219070:p.Arg161Gln		54075530	NM_004530	B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483909	0.96307	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.21191	2.02;2.02;2.02	4.72	4.72	0.59763	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	N	0.25957	0.775	0.80722	D	1	D;D	0.63880	0.993;0.987	P;B	0.47744	0.556;0.335	T	0.02560	-1.1141	10	0.54805	T	0.06	.	18.0532	0.89356	0.0:0.0:1.0:0.0	.	111;161	E9PE45;P08253	.;MMP2_HUMAN	Q	161;85;111	ENSP00000219070:R161Q;ENSP00000444143:R85Q;ENSP00000394237:R111Q	ENSP00000219070:R161Q	R	+	2	0	MMP2	54075530	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	7.919000	0.87513	2.346000	0.79739	0.455000	0.32223	CGA		0.547	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3		
SLC6A2	6530	broad.mit.edu	37	16	55690765	55690765	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:55690765G>A	ENST00000379906.2	+	1	414	c.159G>A	c.(157-159)gcG>gcA	p.A53A	SLC6A2_ENST00000414754.3_Silent_p.A53A|SLC6A2_ENST00000561820.1_Silent_p.A53A|SLC6A2_ENST00000566163.1_Silent_p.A53A|SLC6A2_ENST00000568943.1_Silent_p.A53A|SLC6A2_ENST00000219833.8_Silent_p.A53A	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	53					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.A53A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGGCGACGCGCAGCCCCGGG	0.682																																					p.A53A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G159A	16						.						46.0	49.0	48.0					16																	55690765		2198	4300	6498	54248266	SO:0001819	synonymous_variant	6530	exon1				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.159G>A	16.37:g.55690765G>A			54248266	NM_001172504	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.682	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
SLC6A2	6530	broad.mit.edu	37	16	55731916	55731916	+	Silent	SNP	C	C	A	rs140641227	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:55731916C>A	ENST00000379906.2	+	9	1623	c.1368C>A	c.(1366-1368)ctC>ctA	p.L456L	SLC6A2_ENST00000414754.3_Silent_p.L456L|SLC6A2_ENST00000561820.1_Silent_p.L456L|SLC6A2_ENST00000567238.1_Silent_p.L351L|SLC6A2_ENST00000566163.1_Silent_p.L411L|SLC6A2_ENST00000568943.1_Silent_p.L456L|SLC6A2_ENST00000219833.8_Silent_p.L456L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	456					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.L456L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTTCCTTCTCGCCCTGTTCT	0.552																																					p.L456L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1368A	16						.						139.0	124.0	129.0					16																	55731916		2198	4300	6498	54289417	SO:0001819	synonymous_variant	6530	exon9				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1368C>A	16.37:g.55731916C>A			54289417	NM_001172504	B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	CCDS10754.1																																																																																				0.552	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2		
CES5A	221223	broad.mit.edu	37	16	55883537	55883537	+	Splice_Site	SNP	G	G	A	rs369099039		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:55883537G>A	ENST00000290567.9	-	11	1543	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000518005.1_Splice_Site_p.F368F|CES5A_ENST00000521992.1_Splice_Site_p.F503F|CES5A_ENST00000520435.1_Splice_Site_p.F444F	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	474						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.F503F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTCCCTTACCGAACATAACAA	0.537																																					p.F474F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1422T	16						.	G	,,	2,3134		0,2,1566	175.0	152.0	159.0		1422,1509,	-3.2	0.9	16		159	0,7164		0,0,3582	no	coding-synonymous-near-splice,coding-synonymous-near-splice,intron	CES5A	NM_001143685.1,NM_001190158.1,NM_145024.2	,,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	,,	474/576,503/605,	55883537	2,10298	1568	3582	5150	54441038	SO:0001630	splice_region_variant	221223	exon11			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1423+1C>T	16.37:g.55883537G>A			54441038	NM_001143685	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																				0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Silent
AMFR	267	broad.mit.edu	37	16	56443491	56443491	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:56443491C>A	ENST00000290649.5	-	3	568	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	120					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D120Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CAAAATTTGTCTTTGAGATGC	0.398																																					p.D120Y	Pancreas(2;144 323 39528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G358T	16						.						60.0	63.0	62.0					16																	56443491		2198	4300	6498	55000992	SO:0001583	missense	267	exon3			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.358G>T	16.37:g.56443491C>A	ENSP00000290649:p.Asp120Tyr		55000992	NM_001144	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798451	0.90538	.	.	ENSG00000159461	ENST00000290649	T	0.20069	2.1	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48581	-0.9023	10	0.87932	D	0	-31.9093	20.2618	0.98447	0.0:1.0:0.0:0.0	.	120	Q9UKV5	AMFR2_HUMAN	Y	120	ENSP00000290649:D120Y	ENSP00000290649:D120Y	D	-	1	0	AMFR	55000992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.681000	0.84073	2.793000	0.96121	0.655000	0.94253	GAC		0.398	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		
BBS2	583	broad.mit.edu	37	16	56519562	56519562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:56519562C>A	ENST00000245157.5	-	16	2419	c.1999G>T	c.(1999-2001)Gag>Tag	p.E667*	BBS2_ENST00000568104.1_Nonsense_Mutation_p.E621*	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	667					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.E667*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CCCAACAGCTCTGTGTGATTG	0.388									Bardet-Biedl syndrome																												p.E667X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1999T	16						.						215.0	209.0	211.0					16																	56519562		2198	4300	6498	55077063	SO:0001587	stop_gained	583	exon16	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1999G>T	16.37:g.56519562C>A	ENSP00000245157:p.Glu667*		55077063	NM_031885	Q96CM0|Q96SN9	Nonsense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	43	10.393551	0.99397	.	.	ENSG00000125124	ENST00000245157	.	.	.	5.64	5.64	0.86602	.	0.046925	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-19.3584	19.6921	0.96007	0.0:1.0:0.0:0.0	.	.	.	.	X	667	.	ENSP00000245157:E667X	E	-	1	0	BBS2	55077063	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	7.278000	0.78587	2.655000	0.90218	0.585000	0.79938	GAG		0.388	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
BBS2	583	broad.mit.edu	37	16	56553721	56553721	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:56553721C>A	ENST00000245157.5	-	1	474	c.54G>T	c.(52-54)atG>atT	p.M18I	BBS2_ENST00000568104.1_Missense_Mutation_p.M18I	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	18					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.M18I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTATGGCCACCATTCGGGGGC	0.677									Bardet-Biedl syndrome																												p.M18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54T	16						.						51.0	45.0	47.0					16																	56553721		2198	4300	6498	55111222	SO:0001583	missense	583	exon1	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.54G>T	16.37:g.56553721C>A	ENSP00000245157:p.Met18Ile		55111222	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798173	0.70567	.	.	ENSG00000125124	ENST00000245157	T	0.63580	-0.05	4.82	4.82	0.62117	WD40 repeat-like-containing domain (1);	0.106237	0.85682	D	0.000000	T	0.56920	0.2018	L	0.42245	1.32	0.80722	D	1	B;B	0.23806	0.091;0.091	B;B	0.23716	0.048;0.048	T	0.52961	-0.8505	10	0.33141	T	0.24	-22.9357	18.4483	0.90693	0.0:1.0:0.0:0.0	.	18;18	A8K0N9;Q9BXC9	.;BBS2_HUMAN	I	18	ENSP00000245157:M18I	ENSP00000245157:M18I	M	-	3	0	BBS2	55111222	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.004000	0.76317	2.665000	0.90641	0.462000	0.41574	ATG		0.677	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
NUP93	9688	broad.mit.edu	37	16	56852629	56852629	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:56852629C>T	ENST00000308159.5	+	6	664	c.543C>T	c.(541-543)atC>atT	p.I181I	NUP93_ENST00000564887.1_Silent_p.I58I|NUP93_ENST00000569842.1_Silent_p.I181I|NUP93_ENST00000542526.1_Silent_p.I58I	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	181					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.I181I(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGATAACATCGAGATGGCCT	0.453																																					p.I181I	Colon(33;610 796 1305 1705 38917)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C543T	16						.						130.0	124.0	126.0					16																	56852629		2198	4300	6498	55410130	SO:0001819	synonymous_variant	9688	exon6			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.543C>T	16.37:g.56852629C>T			55410130	NM_014669	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																				0.453	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
NUP93	9688	broad.mit.edu	37	16	56866228	56866228	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:56866228G>A	ENST00000308159.5	+	12	1394	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	NUP93_ENST00000564887.1_Missense_Mutation_p.D302N|NUP93_ENST00000569842.1_Missense_Mutation_p.D425N|NUP93_ENST00000542526.1_Missense_Mutation_p.D302N	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	425					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.D425N(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTGTTTTGACGACGATGGCAC	0.478																																					p.D425N	Colon(33;610 796 1305 1705 38917)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1273A	16						.						185.0	167.0	173.0					16																	56866228		2198	4300	6498	55423729	SO:0001583	missense	9688	exon12			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1273G>A	16.37:g.56866228G>A	ENSP00000310668:p.Asp425Asn		55423729	NM_014669	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605819	0.66445	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.46451	0.87;0.87	6.03	6.03	0.97812	.	0.042884	0.85682	D	0.000000	T	0.37210	0.0995	L	0.41415	1.275	0.80722	D	1	B	0.24368	0.102	B	0.15052	0.012	T	0.13282	-1.0515	10	0.16896	T	0.51	-19.2659	20.5568	0.99304	0.0:0.0:1.0:0.0	.	425	Q8N1F7	NUP93_HUMAN	N	425;302	ENSP00000310668:D425N;ENSP00000440235:D302N	ENSP00000310668:D425N	D	+	1	0	NUP93	55423729	1.000000	0.71417	0.978000	0.43139	0.521000	0.34408	9.687000	0.98667	2.861000	0.98227	0.655000	0.94253	GAC		0.478	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	
CPNE2	221184	broad.mit.edu	37	16	57171082	57171082	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57171082C>T	ENST00000535318.2	+	15	1551	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	CPNE2_ENST00000565874.1_Missense_Mutation_p.A397V|CPNE2_ENST00000290776.8_Missense_Mutation_p.A397V|CPNE2_ENST00000565951.1_Intron|CPNE2_ENST00000537605.1_Missense_Mutation_p.A295V			Q96FN4	CPNE2_HUMAN	copine II	397	VWFA.					extracellular vesicular exosome (GO:0070062)		p.A397V(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATTGCCCAGGCGTACTCAGCT	0.587																																					p.A397V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1190T	16						.						133.0	75.0	95.0					16																	57171082		2198	4300	6498	55728583	SO:0001583	missense	221184	exon14				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1190C>T	16.37:g.57171082C>T	ENSP00000439018:p.Ala397Val		55728583	NM_152727	Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170127	0.94768	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.23147	1.92;1.92;1.92	5.88	5.88	0.94601	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.85859	2.78	0.58432	D	0.999998	D;D	0.69078	0.997;0.989	P;P	0.59643	0.812;0.861	T	0.58814	-0.7570	10	0.62326	D	0.03	-10.8515	20.2422	0.98381	0.0:1.0:0.0:0.0	.	397;397	A8K8A4;Q96FN4	.;CPNE2_HUMAN	V	397;295;397	ENSP00000290776:A397V;ENSP00000445468:A295V;ENSP00000439018:A397V	ENSP00000290776:A397V	A	+	2	0	CPNE2	55728583	1.000000	0.71417	0.993000	0.49108	0.877000	0.50540	7.788000	0.85771	2.782000	0.95742	0.655000	0.94253	GCG		0.587	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727	
RSPRY1	89970	broad.mit.edu	37	16	57255282	57255282	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57255282C>A	ENST00000537866.1	+	10	1989	c.1116C>A	c.(1114-1116)gtC>gtA	p.V372V	RSPRY1_ENST00000394420.4_Silent_p.V372V			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.V372V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CTTCTGGCGTCATGCAGATTG	0.502																																					p.V372V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1116A	16						.						171.0	154.0	160.0					16																	57255282		2198	4300	6498	55812783	SO:0001819	synonymous_variant	89970	exon10			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1116C>A	16.37:g.57255282C>A			55812783	NM_133368	Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	CCDS10775.1																																																																																				0.502	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368	
RSPRY1	89970	broad.mit.edu	37	16	57265111	57265111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57265111C>A	ENST00000537866.1	+	13	2282	c.1409C>A	c.(1408-1410)tCa>tAa	p.S470*	RSPRY1_ENST00000394420.4_Nonsense_Mutation_p.S470*|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	470	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.S470*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGTTTCATGTCATATCAACAA	0.323																																					p.S470X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1409A	16						.						103.0	100.0	101.0					16																	57265111		2198	4300	6498	55822612	SO:0001587	stop_gained	89970	exon13			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1409C>A	16.37:g.57265111C>A	ENSP00000443176:p.Ser470*		55822612	NM_133368	Q6UX21|Q8ND53	Nonsense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	47	13.193280	0.99726	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0175	0.97485	0.0:1.0:0.0:0.0	rs35236945	.	.	.	X	470	.	ENSP00000377942:S470X	S	+	2	0	RSPRY1	55822612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.730000	0.93505	0.650000	0.86243	TCA		0.323	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368	
ARL2BP	23568	broad.mit.edu	37	16	57286102	57286102	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57286102T>G	ENST00000219204.3	+	6	685	c.415T>G	c.(415-417)Tta>Gta	p.L139V	RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.L99V	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	139					maintenance of protein location in nucleus (GO:0051457)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of catalytic activity (GO:0050790)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	centrosome (GO:0005813)|cilium (GO:0005929)|midbody (GO:0030496)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	small GTPase regulator activity (GO:0005083)|transcription coactivator activity (GO:0003713)	p.L139V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AGGACTGGACTTAAGCAGTGG	0.488																																					p.L139V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T415G	16						.						115.0	96.0	102.0					16																	57286102		2198	4300	6498	55843603	SO:0001583	missense	23568	exon6			AF126062	CCDS10776.1	16q13	2014-01-30			ENSG00000102931	ENSG00000102931			17146	protein-coding gene	gene with protein product	"""binder of Arl2"""	615407	"""retinitis pigmentosa 66 (autosomal recessive)"""	RP66		10488091, 18981177, 23849777	Standard	NM_012106		Approved	BART1, BART	uc002elf.1	Q9Y2Y0	OTTHUMG00000133459	ENST00000219204.3:c.415T>G	16.37:g.57286102T>G	ENSP00000219204:p.Leu139Val		55843603	NM_012106	B3KQJ5|Q504R0	Missense_Mutation	SNP	ENST00000219204.3	37	CCDS10776.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203537	0.79127	.	.	ENSG00000102931	ENST00000219204	T	0.55930	0.49	6.02	3.79	0.43588	.	0.000000	0.53938	U	0.000049	T	0.50650	0.1628	M	0.70842	2.15	0.53688	D	0.999972	P	0.36599	0.56	B	0.36186	0.219	T	0.50833	-0.8781	10	0.66056	D	0.02	-7.0897	9.7865	0.40679	0.0:0.1387:0.0:0.8613	.	139	Q9Y2Y0	AR2BP_HUMAN	V	139	ENSP00000219204:L139V	ENSP00000219204:L139V	L	+	1	2	ARL2BP	55843603	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.014000	0.49590	0.539000	0.28788	0.528000	0.53228	TTA		0.488	ARL2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257334.2	NM_012106	
CCL22	6367	broad.mit.edu	37	16	57397476	57397476	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57397476G>T	ENST00000219235.4	+	3	303	c.258G>T	c.(256-258)atG>atT	p.M86I		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	86					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.M86I(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GGGTGAAGATGATTCTCAATA	0.532																																					p.M86I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	16						.						114.0	96.0	102.0					16																	57397476		2198	4300	6498	55954977	SO:0001583	missense	6367	exon3			U83171	CCDS10778.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102962	ENSG00000102962		"""Chemokine ligands"", ""Endogenous ligands"""	10621	protein-coding gene	gene with protein product		602957	"""small inducible cytokine subfamily A (Cys-Cys), member 22"""	SCYA22		9151897, 9691168	Standard	NM_002990		Approved	MDC, STCP-1, ABCD-1, DC/B-CK, A-152E5.1, MGC34554	uc002elh.3	O00626	OTTHUMG00000133454	ENST00000219235.4:c.258G>T	16.37:g.57397476G>T	ENSP00000219235:p.Met86Ile		55954977	NM_002990	A0N0Q6|B2R4W2	Missense_Mutation	SNP	ENST00000219235.4	37	CCDS10778.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884492	0.33255	.	.	ENSG00000102962	ENST00000219235	T	0.04551	3.6	4.47	1.18	0.20946	Chemokine interleukin-8-like domain (3);	0.544621	0.19056	N	0.123920	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.31209	0.313	B	0.36922	0.236	T	0.34229	-0.9837	9	0.54805	T	0.06	-8.89	3.5563	0.07865	0.2119:0.0:0.5912:0.1969	.	86	O00626	CCL22_HUMAN	I	86	ENSP00000219235:M86I	ENSP00000219235:M86I	M	+	3	0	CCL22	55954977	0.018000	0.18449	0.129000	0.21949	0.019000	0.09904	0.725000	0.25970	0.625000	0.30304	0.462000	0.41574	ATG		0.532	CCL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257328.1	NM_002990	
CX3CL1	6376	broad.mit.edu	37	16	57416442	57416442	+	Missense_Mutation	SNP	C	C	T	rs529786529		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57416442C>T	ENST00000006053.6	+	3	803	c.692C>T	c.(691-693)gCg>gTg	p.A231V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.A237V|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A193V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	231	Mucin-like stalk.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)	p.A231V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCTCCACTGCGTCCTCCCCA	0.672																																					p.A231V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	16						.						34.0	38.0	36.0					16																	57416442		2198	4299	6497	55973943	SO:0001583	missense	6376	exon3			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.692C>T	16.37:g.57416442C>T	ENSP00000006053:p.Ala231Val		55973943	NM_002996	O00672	Missense_Mutation	SNP	ENST00000006053.6	37	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310321	0.23821	.	.	ENSG00000006210	ENST00000006053	T	0.04234	3.67	4.86	-5.81	0.02340	.	13.360600	0.00919	U	0.002577	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.87932	D	0	-24.1521	1.3009	0.02079	0.1249:0.2728:0.2506:0.3517	.	231	P78423	X3CL1_HUMAN	V	231	ENSP00000006053:A231V	ENSP00000006053:A231V	A	+	2	0	CX3CL1	55973943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.444000	0.01012	-0.967000	0.03582	-0.885000	0.02943	GCG		0.672	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996	
COQ9	57017	broad.mit.edu	37	16	57485105	57485105	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57485105C>T	ENST00000262507.6	+	2	296	c.227C>T	c.(226-228)tCt>tTt	p.S76F	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.S76F|COQ9_ENST00000567933.1_Missense_Mutation_p.S76F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	76					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.S76F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGAGTCTTCTCATTCACCC	0.507																																					p.S76F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C227T	16						.						81.0	83.0	82.0					16																	57485105		2198	4300	6498	56042606	SO:0001583	missense	57017	exon2			BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.227C>T	16.37:g.57485105C>T	ENSP00000262507:p.Ser76Phe		56042606	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089170	0.20390	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.16	4.21	0.49690	.	1.000800	0.08061	N	0.998128	T	0.27098	0.0664	L	0.40543	1.245	0.09310	N	1	B;B;B;B;P	0.40107	0.228;0.009;0.004;0.001;0.703	B;B;B;B;B	0.34385	0.082;0.011;0.005;0.002;0.181	T	0.26503	-1.0101	9	0.59425	D	0.04	1.0309	4.3737	0.11260	0.1584:0.603:0.1532:0.0854	.	76;76;76;76;76	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	F	76	.	ENSP00000262507:S76F	S	+	2	0	COQ9	56042606	0.000000	0.05858	0.010000	0.14722	0.733000	0.41908	0.420000	0.21263	1.178000	0.42870	0.655000	0.94253	TCT		0.507	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	
GPR56	9289	broad.mit.edu	37	16	57689793	57689793	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57689793G>T	ENST00000388812.4	+	7	1346	c.906G>T	c.(904-906)aaG>aaT	p.K302N	GPR56_ENST00000562558.1_Missense_Mutation_p.K302N|GPR56_ENST00000568908.1_Missense_Mutation_p.K302N|GPR56_ENST00000540164.2_Missense_Mutation_p.K302N|GPR56_ENST00000567835.1_Missense_Mutation_p.K302N|GPR56_ENST00000538815.1_Missense_Mutation_p.K302N|GPR56_ENST00000544297.1_Missense_Mutation_p.K127N|GPR56_ENST00000456916.1_Missense_Mutation_p.K302N|GPR56_ENST00000379696.3_Missense_Mutation_p.K302N|GPR56_ENST00000568909.1_Missense_Mutation_p.K302N|GPR56_ENST00000379694.4_Missense_Mutation_p.K132N|GPR56_ENST00000562631.1_Missense_Mutation_p.K302N|GPR56_ENST00000388813.5_Missense_Mutation_p.K302N			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	302					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)	p.K302N(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCTAGGACAAGAATTCCAGCC	0.542																																					p.K302N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G906T	16						.						115.0	114.0	114.0					16																	57689793		2198	4300	6498	56247294	SO:0001583	missense	9289	exon8			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.906G>T	16.37:g.57689793G>T	ENSP00000373464:p.Lys302Asn		56247294	NM_001145774	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650091	0.29336	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.44881	0.92;0.91;0.92;0.91;0.92;1.78;1.17;0.91	5.59	3.3	0.37823	.	0.086211	0.49916	D	0.000122	T	0.39655	0.1086	M	0.65975	2.015	0.28050	N	0.933413	P;P;B;P;P	0.35433	0.493;0.501;0.046;0.501;0.501	B;B;B;B;B	0.35607	0.206;0.143;0.041;0.143;0.203	T	0.34950	-0.9808	10	0.39692	T	0.17	.	10.0019	0.41933	0.2372:0.0:0.7628:0.0	.	127;307;302;302;132	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	N	302;302;302;302;302;127;132;302	ENSP00000373465:K302N;ENSP00000373464:K302N;ENSP00000444415:K302N;ENSP00000398034:K302N;ENSP00000444911:K302N;ENSP00000438006:K127N;ENSP00000369016:K132N;ENSP00000369018:K302N	ENSP00000369016:K132N	K	+	3	2	GPR56	56247294	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	1.025000	0.30090	1.358000	0.45922	0.655000	0.94253	AAG		0.542	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3		
KIFC3	3801	broad.mit.edu	37	16	57805499	57805499	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:57805499G>A	ENST00000379655.4	-	5	738	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	KIFC3_ENST00000562903.1_Missense_Mutation_p.R22C|KIFC3_ENST00000465878.2_Missense_Mutation_p.R22C|KIFC3_ENST00000539578.1_Missense_Mutation_p.R103C|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000541240.1_Missense_Mutation_p.R183C|KIFC3_ENST00000543930.1_Missense_Mutation_p.R22C|KIFC3_ENST00000445690.2_Missense_Mutation_p.R161C|KIFC3_ENST00000421376.2_Missense_Mutation_p.R22C|KIFC3_ENST00000540079.2_Missense_Mutation_p.R59C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	161					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R161C(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCTTTGTGCGCAGCTCTTGC	0.657																																					p.R161C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C481T	16						.						76.0	53.0	60.0					16																	57805499		2198	4300	6498	56363000	SO:0001583	missense	3801	exon5			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.481C>T	16.37:g.57805499G>A	ENSP00000368976:p.Arg161Cys		56363000	NM_001130100	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	2.131	-0.399017	0.04865	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.75260	-0.84;-0.84;-0.83;-0.85;-0.84;-0.92;-0.85	5.09	1.69	0.24217	.	0.448245	0.22090	N	0.064771	T	0.61578	0.2358	L	0.36672	1.1	0.19300	N	0.999978	B;B;B;B;B;B	0.16396	0.01;0.017;0.004;0.007;0.004;0.002	B;B;B;B;B;B	0.10450	0.001;0.005;0.001;0.002;0.001;0.001	T	0.56739	-0.7929	10	0.72032	D	0.01	.	8.506	0.33188	0.0:0.1258:0.5291:0.3451	.	183;103;22;59;161;22	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	C	161;161;22;183;59;22;103	ENSP00000368976:R161C;ENSP00000401696:R161C;ENSP00000396399:R22C;ENSP00000442008:R183C;ENSP00000438805:R59C;ENSP00000444012:R22C;ENSP00000444884:R103C	ENSP00000368976:R161C	R	-	1	0	KIFC3	56363000	0.614000	0.27017	0.031000	0.17742	0.081000	0.17604	0.492000	0.22435	0.530000	0.28619	0.655000	0.94253	CGC		0.657	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
TEPP	374739	broad.mit.edu	37	16	58011868	58011868	+	Missense_Mutation	SNP	C	C	T	rs573261072		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58011868C>T	ENST00000441824.2	+	2	350	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	TEPP_ENST00000569996.1_Intron|TEPP_ENST00000290871.5_Missense_Mutation_p.R105C	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	105						extracellular region (GO:0005576)		p.R105C(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						GCCCACCCTGCGCCACATGGA	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16738	0.0		0.0	False		,,,				2504	0.001				p.R105C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C313T	16						.						58.0	46.0	50.0					16																	58011868		2198	4300	6498	56569369	SO:0001583	missense	374739	exon2			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.313C>T	16.37:g.58011868C>T	ENSP00000401917:p.Arg105Cys		56569369	NM_199456	Q6URK7	Missense_Mutation	SNP	ENST00000441824.2	37	CCDS45496.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741800	0.69304	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.67345	-0.26;-0.26	4.36	3.25	0.37280	.	0.000000	0.53938	D	0.000044	T	0.80904	0.4713	M	0.86343	2.81	0.46654	D	0.99914	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82524	-0.0414	10	0.87932	D	0	-7.588	8.2742	0.31862	0.3012:0.6988:0.0:0.0	.	105;105	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	C	105	ENSP00000290871:R105C;ENSP00000401917:R105C	ENSP00000290871:R105C	R	+	1	0	TEPP	56569369	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.093000	0.30939	2.121000	0.65114	0.423000	0.28283	CGC		0.642	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456	
MMP15	4324	broad.mit.edu	37	16	58074569	58074569	+	Missense_Mutation	SNP	G	G	A	rs148331048	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58074569G>A	ENST00000219271.3	+	5	1662	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	293					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E293K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CAAGCTGCCCGAGGACGATCT	0.627													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20617	0.0		0.0	False		,,,				2504	0.0				p.E293K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G877A	16						.	G	LYS/GLU	7,4389	12.9+/-30.5	0,7,2191	122.0	99.0	107.0		877	5.2	1.0	16	dbSNP_134	107	0,8600		0,0,4300	yes	missense	MMP15	NM_002428.2	56	0,7,6491	AA,AG,GG		0.0,0.1592,0.0539	benign	293/670	58074569	7,12989	2198	4300	6498	56632070	SO:0001583	missense	4324	exon5			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.877G>A	16.37:g.58074569G>A	ENSP00000219271:p.Glu293Lys		56632070	NM_002428	A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731912	0.48939	0.001592	0.0	ENSG00000102996	ENST00000219271	T	0.20463	2.07	5.17	5.17	0.71159	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.104740	0.64402	D	0.000005	T	0.30759	0.0775	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	P	0.55391	0.775	T	0.01087	-1.1456	10	0.32370	T	0.25	.	17.6579	0.88183	0.0:0.0:1.0:0.0	.	293	P51511	MMP15_HUMAN	K	293	ENSP00000219271:E293K	ENSP00000219271:E293K	E	+	1	0	MMP15	56632070	1.000000	0.71417	0.993000	0.49108	0.576000	0.36127	5.662000	0.68032	2.421000	0.82119	0.563000	0.77884	GAG		0.627	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428	
CCDC113	29070	broad.mit.edu	37	16	58292312	58292312	+	Missense_Mutation	SNP	C	C	T	rs372103092		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58292312C>T	ENST00000219299.4	+	4	510	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CCDC113_ENST00000443128.2_Missense_Mutation_p.S90L	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	144						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGTGAAGTTTCGAGAGAAGTG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		17673	0.0		0.0	False		,,,				2504	0.001				p.S90L												.	.	0			c.C269T	16						.						100.0	99.0	100.0					16																	58292312		2198	4300	6498	56849813	SO:0001583	missense	29070	exon3			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.431C>T	16.37:g.58292312C>T	ENSP00000219299:p.Ser144Leu		56849813	NM_001142302	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	9.357	1.066970	0.20067	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.31247	1.5;1.51	5.18	0.278	0.15673	.	0.672622	0.15240	N	0.272956	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B	0.16603	0.018;0.008	B;B	0.09377	0.003;0.004	T	0.16897	-1.0387	10	0.51188	T	0.08	0.0536	5.4858	0.16749	0.6288:0.1391:0.2321:0.0	.	90;144	B4DR20;Q9H0I3	.;CC113_HUMAN	L	90;144	ENSP00000402588:S90L;ENSP00000219299:S144L	ENSP00000219299:S144L	S	+	2	0	CCDC113	56849813	0.940000	0.31905	0.002000	0.10522	0.001000	0.01503	1.973000	0.40550	-0.160000	0.11002	-1.059000	0.02297	TCG		0.423	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
CCDC113	29070	broad.mit.edu	37	16	58313629	58313629	+	Missense_Mutation	SNP	G	G	A	rs146122026		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58313629G>A	ENST00000219299.4	+	9	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	361						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R361Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18966	0.0		0.001	False		,,,				2504	0.0				p.R307Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G920A	16						.	G	GLN/ARG,GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	71.0	69.0	70.0		920,1082	-0.7	0.9	16	dbSNP_134	70	0,8600		0,0,4300	yes	missense,missense	CCDC113	NM_001142302.1,NM_014157.3	43,43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	307/324,361/378	58313629	1,12995	2198	4300	6498	56871130	SO:0001583	missense	29070	exon8			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.1082G>A	16.37:g.58313629G>A	ENSP00000219299:p.Arg361Gln		56871130	NM_001142302	B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	CCDS10795.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.942	0.543584	0.13250	2.27E-4	0.0	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.29917	1.55;1.63	6.03	-0.697	0.11284	.	0.472014	0.24050	N	0.042015	T	0.09818	0.0241	N	0.08118	0	0.20074	N	0.999933	B;B	0.20887	0.049;0.014	B;B	0.11329	0.006;0.002	T	0.34675	-0.9819	10	0.02654	T	1	-7.7531	5.7642	0.18217	0.5139:0.1387:0.3474:0.0	.	307;361	B4DR20;Q9H0I3	.;CC113_HUMAN	Q	307;361	ENSP00000402588:R307Q;ENSP00000219299:R361Q	ENSP00000219299:R361Q	R	+	2	0	CCDC113	56871130	0.754000	0.28360	0.868000	0.34077	0.072000	0.16883	0.674000	0.25218	-0.111000	0.12001	-0.302000	0.09304	CGA		0.413	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
GINS3	64785	broad.mit.edu	37	16	58426556	58426556	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58426556G>T	ENST00000318129.5	+	1	259	c.51G>T	c.(49-51)gaG>gaT	p.E17D	GINS3_ENST00000328514.7_Missense_Mutation_p.E17D|GINS3_ENST00000426538.2_Missense_Mutation_p.E17D	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	17					DNA replication (GO:0006260)	nucleus (GO:0005634)		p.E17D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GGCCTGAGGAGAACTTTCTTT	0.607																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	16						.						81.0	83.0	82.0					16																	58426556		2198	4300	6498	56984057	SO:0001583	missense	64785	exon1			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.51G>T	16.37:g.58426556G>T	ENSP00000318196:p.Glu17Asp		56984057	NM_001126130	B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	ENST00000318129.5	37	CCDS10796.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217059	0.79352	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T	0.17370	2.28	5.71	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.65498	2.005	0.42070	D	0.991209	D;D;B	0.71674	0.998;0.99;0.028	D;D;B	0.74674	0.984;0.971;0.043	T	0.11446	-1.0587	10	0.18710	T	0.47	-1.648	7.7558	0.28923	0.3511:0.0:0.6489:0.0	.	17;17;17	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	D	17	ENSP00000318196:E17D	ENSP00000318196:E17D	E	+	3	2	GINS3	56984057	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	2.067000	0.41461	0.313000	0.23062	0.591000	0.81541	GAG		0.607	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2	NM_022770	
CNOT1	23019	broad.mit.edu	37	16	58573745	58573745	+	Missense_Mutation	SNP	C	C	T	rs181822641		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58573745C>T	ENST00000317147.5	-	35	5251	c.4919G>A	c.(4918-4920)cGa>cAa	p.R1640Q	CNOT1_ENST00000245138.4_Missense_Mutation_p.R491Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1635Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1640					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.R1640Q(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAGAGACTTCGAAGAGCCTG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		18022	0.0		0.001	False		,,,				2504	0.0				p.R1640Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4919A	16						.						130.0	113.0	119.0					16																	58573745		2198	4300	6498	57131246	SO:0001583	missense	23019	exon35			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4919G>A	16.37:g.58573745C>T	ENSP00000320949:p.Arg1640Gln		57131246	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.22	3.334835	0.60853	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T;T	0.16743	2.32;2.32	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.24651	0.041;0.032;0.108	B;B;B	0.20577	0.008;0.014;0.03	T	0.31613	-0.9937	10	0.13108	T	0.6	-13.0679	20.1338	0.98010	0.0:1.0:0.0:0.0	.	491;1640;1635	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	Q	1640;491;1635	ENSP00000320949:R1640Q;ENSP00000245138:R491Q	ENSP00000245138:R491Q	R	-	2	0	CNOT1	57131246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.770000	0.95276	0.655000	0.94253	CGA		0.433	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58577650	58577650	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58577650G>A	ENST00000317147.5	-	31	4627	c.4295C>T	c.(4294-4296)tCg>tTg	p.S1432L	CNOT1_ENST00000245138.4_Missense_Mutation_p.S283L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1432L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1427L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1432	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.S1432L(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATTCCTCCGAATCCAGGGC	0.478																																					p.S1432L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4295T	16						.						121.0	94.0	103.0					16																	58577650		2198	4300	6498	57135151	SO:0001583	missense	23019	exon31			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4295C>T	16.37:g.58577650G>A	ENSP00000320949:p.Ser1432Leu		57135151	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727005	0.89390	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.46063	0.89;0.88	5.3	5.3	0.74995	CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 (1);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	L	0.39245	1.2	0.80722	D	1	P;D;P;P	0.53151	0.843;0.958;0.867;0.839	B;B;B;B	0.40534	0.083;0.332;0.24;0.228	T	0.40308	-0.9570	10	0.62326	D	0.03	.	18.9405	0.92604	0.0:0.0:1.0:0.0	.	283;1432;1432;1427	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	L	1432;283;1427;1432	ENSP00000320949:S1432L;ENSP00000413113:S1432L	ENSP00000245138:S283L	S	-	2	0	CNOT1	57135151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.461000	0.83175	0.585000	0.79938	TCG		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58583674	58583674	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58583674C>A	ENST00000317147.5	-	25	3803	c.3471G>T	c.(3469-3471)aaG>aaT	p.K1157N	SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Missense_Mutation_p.K47N|CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.K1157N|CNOT1_ENST00000569240.1_Missense_Mutation_p.K1152N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1157	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.K1157N(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATTCAGGATTCTTCAGCGTGT	0.343																																					p.K1157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3471T	16						.						144.0	142.0	143.0					16																	58583674		2198	4300	6498	57141175	SO:0001583	missense	23019	exon25			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3471G>T	16.37:g.58583674C>A	ENSP00000320949:p.Lys1157Asn		57141175	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201960	0.38905	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.18338	2.22;2.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.31294	0.92	0.80722	D	1	B;D;B;B	0.61080	0.091;0.989;0.067;0.162	B;D;B;B	0.75020	0.039;0.985;0.012;0.039	T	0.02431	-1.1160	10	0.13853	T	0.58	.	13.4785	0.61322	0.0:0.9246:0.0:0.0754	.	47;1157;1157;1152	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	N	1157;586;47;1152;1157	ENSP00000320949:K1157N;ENSP00000413113:K1157N	ENSP00000245138:K47N	K	-	3	2	CNOT1	57141175	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.351000	0.34022	2.536000	0.85505	0.491000	0.48974	AAG		0.343	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CNOT1	23019	broad.mit.edu	37	16	58616711	58616711	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:58616711C>T	ENST00000317147.5	-	10	1362	c.1030G>A	c.(1030-1032)Gtt>Att	p.V344I	CNOT1_ENST00000441024.2_Missense_Mutation_p.V344I|CNOT1_ENST00000569240.1_Missense_Mutation_p.V344I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	344					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.V344I(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCTTTAAGAACGTCAATCAAG	0.378																																					p.V344I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1030A	16						.						170.0	161.0	164.0					16																	58616711		2198	4300	6498	57174212	SO:0001583	missense	23019	exon10			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1030G>A	16.37:g.58616711C>T	ENSP00000320949:p.Val344Ile		57174212	NM_206999	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000180	0.54147	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.43688	0.94;0.94	5.88	5.88	0.94601	.	0.111469	0.64402	D	0.000012	T	0.36358	0.0964	L	0.31926	0.97	0.80722	D	1	B;B;B	0.13145	0.006;0.002;0.007	B;B;B	0.12837	0.008;0.0;0.002	T	0.09975	-1.0650	9	.	.	.	-16.0532	20.2422	0.98381	0.0:1.0:0.0:0.0	.	344;344;344	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	I	344	ENSP00000320949:V344I;ENSP00000413113:V344I	.	V	-	1	0	CNOT1	57174212	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.763000	0.62257	2.788000	0.95919	0.650000	0.86243	GTT		0.378	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDH8	1006	broad.mit.edu	37	16	61823376	61823376	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:61823376C>T	ENST00000577390.1	-	8	2242	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	CDH8_ENST00000584337.1_Missense_Mutation_p.D430N|CDH8_ENST00000577730.1_Missense_Mutation_p.D430N|CDH8_ENST00000299345.6_Missense_Mutation_p.D430N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.D430N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTGTGCCGGTCGATGGAAAAC	0.428																																					p.D430N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1288A	16						.						174.0	147.0	156.0					16																	61823376		2203	4299	6502	60380877	SO:0001583	missense	1006	exon8			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1288G>A	16.37:g.61823376C>T	ENSP00000462701:p.Asp430Asn		60380877	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	33	5.268405	0.95429	.	.	ENSG00000150394	ENST00000299345	T	0.01725	4.67	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08582	0.0213	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.77557	0.853;0.99	T	0.05468	-1.0883	10	0.59425	D	0.04	.	19.305	0.94157	0.0:1.0:0.0:0.0	.	246;430	Q3LID3;P55286	.;CADH8_HUMAN	N	430	ENSP00000299345:D430N	ENSP00000299345:D430N	D	-	1	0	CDH8	60380877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.323000	0.79105	2.629000	0.89072	0.491000	0.48974	GAC		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH11	1009	broad.mit.edu	37	16	65038750	65038750	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:65038750T>C	ENST00000268603.4	-	3	638	c.23A>G	c.(22-24)cAa>cGa	p.Q8R	CDH11_ENST00000394156.3_Missense_Mutation_p.Q8R|CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	8					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q8R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CAGGGCGGCTTGTAAACAGTA	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.Q8R			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A23G	16						.						19.0	26.0	23.0					16																	65038750		2187	4286	6473	63596251	SO:0001583	missense	1009	exon3			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.23A>G	16.37:g.65038750T>C	ENSP00000268603:p.Gln8Arg		63596251	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984030	0.35036	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.54866	0.55;0.55	5.47	5.47	0.80525	.	0.187525	0.45867	D	0.000321	T	0.33440	0.0863	N	0.08118	0	0.80722	D	1	B;B	0.22146	0.065;0.009	B;B	0.22601	0.04;0.005	T	0.15263	-1.0443	10	0.23891	T	0.37	.	14.7371	0.69424	0.0:0.0:0.0:1.0	.	8;8	P55287-2;P55287	.;CAD11_HUMAN	R	8	ENSP00000268603:Q8R;ENSP00000377711:Q8R	ENSP00000268603:Q8R	Q	-	2	0	CDH11	63596251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.335000	0.43929	2.081000	0.62600	0.482000	0.46254	CAA		0.597	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
TK2	7084	broad.mit.edu	37	16	66551054	66551054	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66551054C>A	ENST00000451102.2	-	8	953	c.603G>T	c.(601-603)gaG>gaT	p.E201D	RP11-403P17.5_ENST00000561728.1_Nonsense_Mutation_p.E18*|TK2_ENST00000563369.2_Missense_Mutation_p.E104D|TK2_ENST00000417693.3_Missense_Mutation_p.E183D|TK2_ENST00000544898.1_Missense_Mutation_p.E152D|TK2_ENST00000299697.7_Missense_Mutation_p.E243D|TK2_ENST00000527800.1_Missense_Mutation_p.E104D|TK2_ENST00000527284.1_Missense_Mutation_p.E170D|TK2_ENST00000564917.1_Missense_Mutation_p.E201D|TK2_ENST00000545043.2_Missense_Mutation_p.E176D|TK2_ENST00000525974.1_Missense_Mutation_p.E104D			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	201					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)	p.E243D(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GAATGACCTTCTCCTCTTCCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.E170D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	16						.						269.0	267.0	267.0					16																	66551054		2201	4300	6501	65108555	SO:0001583	missense	7084	exon8				CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.603G>T	16.37:g.66551054C>A	ENSP00000414334:p.Glu201Asp	1092	65108555	NM_001172643	B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438493	0.83885	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	D;D;D;D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5;-5.5;-5.5;-5.5	5.6	3.3	0.37823	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	M	0.92077	3.27	0.53688	D	0.999976	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.989;0.999;0.984	D	0.99066	1.0832	10	0.87932	D	0	-29.5938	10.9992	0.47596	0.0:0.8197:0.0:0.1803	.	243;201;152;243;170	Q8IZR3;O00142;F5GYK4;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.	D	243;183;176;201;104;170;152;104	ENSP00000299697:E243D;ENSP00000407469:E183D;ENSP00000438143:E176D;ENSP00000414334:E201D;ENSP00000433770:E104D;ENSP00000435312:E170D;ENSP00000440898:E152D;ENSP00000434594:E104D	ENSP00000299697:E243D	E	-	3	2	TK2	65108555	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.760000	0.38430	1.371000	0.46172	0.655000	0.94253	GAG		0.512	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4		
CMTM2	146225	broad.mit.edu	37	16	66620981	66620981	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66620981C>A	ENST00000268595.2	+	3	677	c.526C>A	c.(526-528)Ctc>Atc	p.L176I	CMTM2_ENST00000379486.2_Missense_Mutation_p.L123I	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	176	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L176I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		ATCCATGAATCTCCACTACTT	0.498																																					p.L123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367A	16						.						243.0	184.0	204.0					16																	66620981		2201	4300	6501	65178482	SO:0001583	missense	146225	exon2			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.526C>A	16.37:g.66620981C>A	ENSP00000268595:p.Leu176Ile		65178482	NM_001199317	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.849490	0.00563	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.44083	0.93;1.39	4.05	-8.1	0.01086	Marvel (1);	2.644000	0.01368	N	0.012462	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.12837	0.008;0.005	T	0.21793	-1.0235	10	0.49607	T	0.09	5.7066	2.8266	0.05487	0.1447:0.3818:0.25:0.2235	.	123;176	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	I	123;176	ENSP00000368800:L123I;ENSP00000268595:L176I	ENSP00000268595:L176I	L	+	1	0	CMTM2	65178482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.580000	0.00019	-5.251000	0.00018	-1.431000	0.01090	CTC		0.498	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1		
DYNC1LI2	1783	broad.mit.edu	37	16	66776562	66776562	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66776562C>T	ENST00000258198.2	-	4	514	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYNC1LI2_ENST00000443351.2_Intron|DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.R64H|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.R103H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	103					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R103H(1)		central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CACGTTGCAGCGCGTGTGATC	0.463																																					p.R103H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	16						.						57.0	50.0	53.0					16																	66776562		2200	4300	6500	65334063	SO:0001583	missense	1783	exon4			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.308G>A	16.37:g.66776562C>T	ENSP00000258198:p.Arg103His		65334063	NM_006141	A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307687	0.95629	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000440564	T;T;T	0.32515	1.45;1.45;1.45	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.87578	0.998;0.614;0.998	T	0.57929	-0.7726	10	0.59425	D	0.04	-18.3496	19.0071	0.92856	0.0:1.0:0.0:0.0	.	64;103;103	B4E2E0;B4DHD8;O43237	.;.;DC1L2_HUMAN	H	103;103;64	ENSP00000258198:R103H;ENSP00000368795:R103H;ENSP00000408566:R64H	ENSP00000258198:R103H	R	-	2	0	DYNC1LI2	65334063	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.562000	0.82300	2.793000	0.96121	0.563000	0.77884	CGC		0.463	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1	NM_006141	
NAE1	8883	broad.mit.edu	37	16	66857470	66857470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66857470C>A	ENST00000290810.3	-	5	380	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	NAE1_ENST00000394074.2_Nonsense_Mutation_p.E6*|NAE1_ENST00000564040.2_5'UTR|NAE1_ENST00000359087.4_Nonsense_Mutation_p.E98*|NAE1_ENST00000379463.2_Nonsense_Mutation_p.E89*			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	95					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.E95*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CTATTTAATTCTTGTAAGAAT	0.308																																					p.E89X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G265T	16						.						70.0	68.0	68.0					16																	66857470		2200	4299	6499	65414971	SO:0001587	stop_gained	8883	exon6			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.283G>T	16.37:g.66857470C>A	ENSP00000290810:p.Glu95*		65414971	NM_001018159	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Nonsense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456917	0.96223	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.1961	19.6512	0.95812	0.0:1.0:0.0:0.0	.	.	.	.	X	98;95;89;6	.	ENSP00000290810:E95X	E	-	1	0	NAE1	65414971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.264000	0.78432	2.712000	0.92718	0.591000	0.81541	GAA		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	
CA7	766	broad.mit.edu	37	16	66886692	66886692	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66886692C>T	ENST00000338437.2	+	6	703	c.594C>T	c.(592-594)ggC>ggT	p.G198G	CA7_ENST00000394069.3_Silent_p.G142G|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	198					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.G198G(1)		kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	CCTACCCGGGCTCTCTGACGA	0.607																																					p.G198G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	16						.						60.0	56.0	57.0					16																	66886692		2200	4300	6500	65444193	SO:0001819	synonymous_variant	766	exon6				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"""Carbonic anhydrases"""	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.594C>T	16.37:g.66886692C>T			65444193	NM_005182	Q541F0|Q86YU0	Silent	SNP	ENST00000338437.2	37	CCDS10821.1																																																																																				0.607	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268847.1		
PDP2	57546	broad.mit.edu	37	16	66918608	66918608	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66918608G>A	ENST00000311765.2	+	2	755	c.421G>A	c.(421-423)Gat>Aat	p.D141N	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	141					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.D141N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TGGCATCTTCGATGGACATGG	0.572																																					p.D141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	16						.						107.0	80.0	89.0					16																	66918608		2200	4300	6500	65476109	SO:0001583	missense	57546	exon2			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.421G>A	16.37:g.66918608G>A	ENSP00000309548:p.Asp141Asn		65476109	NM_020786	A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092565	0.94149	.	.	ENSG00000172840	ENST00000311765	T	0.55413	0.52	5.86	5.86	0.93980	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.80336	0.4604	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83164	-0.0097	10	0.87932	D	0	-17.1119	20.5632	0.99335	0.0:0.0:1.0:0.0	.	141	Q9P2J9	PDP2_HUMAN	N	141	ENSP00000309548:D141N	ENSP00000309548:D141N	D	+	1	0	PDP2	65476109	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAT		0.572	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786	
CDH16	1014	broad.mit.edu	37	16	66942343	66942343	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:66942343C>A	ENST00000299752.4	-	18	2635	c.2442G>T	c.(2440-2442)aaG>aaT	p.K814N	CDH16_ENST00000568632.1_Missense_Mutation_p.K717N|CDH16_ENST00000394055.3_Missense_Mutation_p.K792N|CDH16_ENST00000565796.1_Missense_Mutation_p.K775N|CDH16_ENST00000570262.1_Missense_Mutation_p.K734N	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	814					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.K814N(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GATCCGGGTCCTTCTTCCTTG	0.582																																					p.K814N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2442T	16						.						110.0	105.0	107.0					16																	66942343		2200	4300	6500	65499844	SO:0001583	missense	1014	exon18			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2442G>T	16.37:g.66942343C>A	ENSP00000299752:p.Lys814Asn		65499844	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307922	0.40895	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.60548	0.18;0.2	5.11	2.93	0.34026	.	0.165860	0.37219	N	0.002181	T	0.54727	0.1876	N	0.14661	0.345	0.39008	D	0.95948	D;D;P	0.76494	0.999;0.999;0.787	D;D;B	0.80764	0.943;0.994;0.219	T	0.59579	-0.7428	10	0.72032	D	0.01	-26.4532	6.8821	0.24179	0.1863:0.7129:0.0:0.1007	.	792;814;814	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	N	792;814;778	ENSP00000377619:K792N;ENSP00000299752:K814N	ENSP00000299752:K814N	K	-	3	2	CDH16	65499844	1.000000	0.71417	0.994000	0.49952	0.217000	0.24651	0.291000	0.18994	1.142000	0.42291	0.655000	0.94253	AAG		0.582	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
SLC9A5	6553	broad.mit.edu	37	16	67290591	67290591	+	Splice_Site	SNP	C	C	T	rs528679277		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67290591C>T	ENST00000299798.11	+	6	1196	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	377					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.L377L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCCGAGCCCTCGGTATTGCTG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19476	0.0		0.0	False		,,,				2504	0.0				p.L377L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1131T	16						.						153.0	152.0	153.0					16																	67290591		2098	4210	6308	65848092	SO:0001630	splice_region_variant	6553	exon6				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1132+1C>T	16.37:g.67290591C>T			65848092	NM_004594	A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.567	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		Silent
PLEKHG4	25894	broad.mit.edu	37	16	67315038	67315038	+	Missense_Mutation	SNP	G	G	A	rs145862477		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67315038G>A	ENST00000360461.5	+	4	3299	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R174Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R255Q|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R255Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	255							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R255Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GTTGATGCCCGAATTTGTGCT	0.493																																					p.R255Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	16						.						127.0	114.0	119.0					16																	67315038		2198	4300	6498	65872539	SO:0001583	missense	25894	exon6			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.764G>A	16.37:g.67315038G>A	ENSP00000353646:p.Arg255Gln		65872539	NM_001129727	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555108	0.65425	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.71	2.75	0.32379	.	0.677970	0.11391	N	0.568776	T	0.50120	0.1597	M	0.71871	2.18	0.23249	N	0.998044	B;P;B	0.39326	0.014;0.668;0.015	B;B;B	0.28011	0.006;0.085;0.008	T	0.42430	-0.9452	10	0.66056	D	0.02	.	7.9755	0.30153	0.2521:0.0:0.7479:0.0	.	174;62;255	Q58EX7-2;B4E3H4;Q58EX7	.;.;PKHG4_HUMAN	Q	255;255;255;174	ENSP00000353646:R255Q;ENSP00000401118:R255Q;ENSP00000368649:R255Q;ENSP00000398030:R174Q	ENSP00000353646:R255Q	R	+	2	0	PLEKHG4	65872539	0.948000	0.32251	0.365000	0.25901	0.762000	0.43233	1.403000	0.34612	0.366000	0.24427	-0.216000	0.12614	CGA		0.493	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432	
PLEKHG4	25894	broad.mit.edu	37	16	67318747	67318747	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67318747G>T	ENST00000360461.5	+	12	4359	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.K527N|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.K608N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.K608N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	608							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K608N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		ACTTCCGAAAGATGTGGGCTC	0.677																																					p.K608N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1824T	16						.						19.0	22.0	21.0					16																	67318747		2198	4300	6498	65876248	SO:0001583	missense	25894	exon14			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1824G>T	16.37:g.67318747G>T	ENSP00000353646:p.Lys608Asn		65876248	NM_001129727	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286992	0.80803	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10005	2.92;2.92;2.92;2.95	4.5	2.36	0.29203	.	.	.	.	.	T	0.11367	0.0277	L	0.32530	0.975	0.30926	N	0.727429	P;P	0.47409	0.879;0.895	P;P	0.48677	0.586;0.535	T	0.13335	-1.0513	9	0.33141	T	0.24	.	7.2992	0.26411	0.2572:0.0:0.7427:0.0	.	527;608	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	N	608;608;608;527	ENSP00000353646:K608N;ENSP00000401118:K608N;ENSP00000368649:K608N;ENSP00000398030:K527N	ENSP00000353646:K608N	K	+	3	2	PLEKHG4	65876248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.291000	0.51764	0.214000	0.20742	0.585000	0.79938	AAG		0.677	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432	
KCTD19	146212	broad.mit.edu	37	16	67335782	67335782	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67335782G>T	ENST00000304372.5	-	5	742	c.687C>A	c.(685-687)ttC>ttA	p.F229L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	229					protein homooligomerization (GO:0051260)			p.F229L(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAATGTTGGAGAAATTATCCG	0.418																																					p.F229L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C687A	16						.						120.0	121.0	120.0					16																	67335782		1841	4090	5931	65893283	SO:0001583	missense	146212	exon5			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.687C>A	16.37:g.67335782G>T	ENSP00000305702:p.Phe229Leu		65893283	NM_001100915	B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335256	0.81801	.	.	ENSG00000168676	ENST00000304372	T	0.75477	-0.94	6.17	5.04	0.67666	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76564	0.4005	N	0.24115	0.695	0.33614	D	0.603905	D	0.67145	0.996	D	0.70227	0.968	T	0.81982	-0.0683	10	0.87932	D	0	-24.1373	13.271	0.60161	0.0857:0.0:0.9143:0.0	.	229	Q17RG1	KCD19_HUMAN	L	229	ENSP00000305702:F229L	ENSP00000305702:F229L	F	-	3	2	KCTD19	65893283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.075000	0.30716	2.941000	0.99782	0.655000	0.94253	TTC		0.418	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
LRRC36	55282	broad.mit.edu	37	16	67410754	67410754	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67410754G>A	ENST00000329956.6	+	11	1804	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.A474A|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	595								p.A595A(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGGAGGCTGCGCAGCTGGTCC	0.517																																					p.A595A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1785A	16						.						120.0	114.0	116.0					16																	67410754		2198	4300	6498	65968255	SO:0001819	synonymous_variant	55282	exon11			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1785G>A	16.37:g.67410754G>A			65968255	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	CCDS32467.1																																																																																				0.517	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	
ATP6V0D1	9114	broad.mit.edu	37	16	67478507	67478507	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67478507G>A	ENST00000290949.3	-	3	555	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ATP6V0D1_ENST00000602876.1_Silent_p.F58F|ATP6V0D1_ENST00000540149.1_Silent_p.F176F	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	135					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.F135F(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCATCTGCTCGAAGCTGCCTA	0.582																																					p.F135F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	16						.						118.0	80.0	92.0					16																	67478507		2198	4300	6498	66036008	SO:0001819	synonymous_variant	9114	exon3			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.405C>T	16.37:g.67478507G>A			66036008	NM_004691	P12953|Q02547	Silent	SNP	ENST00000290949.3	37	CCDS10838.1																																																																																				0.582	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691	
FAM65A	79567	broad.mit.edu	37	16	67576688	67576688	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67576688C>T	ENST00000379312.3	+	13	2132	c.2011C>T	c.(2011-2013)Ccc>Tcc	p.P671S	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.P687S|FAM65A_ENST00000042381.4_Missense_Mutation_p.P667S|FAM65A_ENST00000428437.2_Missense_Mutation_p.P681S|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.P687S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	671	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.P667S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCACCCATCCCACCACAAG	0.567																																					p.P671S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2011T	16						.						220.0	203.0	209.0					16																	67576688		2198	4300	6498	66134189	SO:0001583	missense	79567	exon13			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2011C>T	16.37:g.67576688C>T	ENSP00000368614:p.Pro671Ser		66134189	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.818|0.818	-0.749561|-0.749561	0.03065|0.03065	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.12879|.	2.65;2.65;2.64|.	4.89|4.89	-9.77|-9.77	0.00500|0.00500	.|.	.|.	.|.	.|.	.|.	T|T	0.18130|0.18130	0.0435|0.0435	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.06786|.	0.0;0.0;0.0;0.001|.	B;B;B;B|.	0.04013|.	0.0;0.0;0.0;0.001|.	T|T	0.30880|0.30880	-0.9963|-0.9963	9|5	0.16896|.	T|.	0.51|.	0.1884|0.1884	11.7146|11.7146	0.51645|0.51645	0.7021:0.1148:0.0:0.1831|0.7021:0.1148:0.0:0.1831	.|.	681;687;671;687|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	S|F	671;667;687;681|661	ENSP00000368614:P671S;ENSP00000042381:P667S;ENSP00000400099:P687S|.	ENSP00000042381:P667S|.	P|S	+|+	1|2	0|0	FAM65A|FAM65A	66134189|66134189	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.515000|-0.515000	0.06290|0.06290	-2.980000|-2.980000	0.00283|0.00283	-0.359000|-0.359000	0.07587|0.07587	CCC|TCC		0.567	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67578324G>A	ENST00000379312.3	+	15	2856	c.2735G>A	c.(2734-2736)cGc>cAc	p.R912H	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.R928H|FAM65A_ENST00000042381.4_Missense_Mutation_p.R908H|FAM65A_ENST00000428437.2_Missense_Mutation_p.R922H|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R927H	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	912						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627																																					p.R912H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2735A	16						.						90.0	82.0	85.0					16																	67578324		2198	4300	6498	66135825	SO:0001583	missense	79567	exon15			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2735G>A	16.37:g.67578324G>A	ENSP00000368614:p.Arg912His		66135825	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654243	0.29425	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	0.947	0.19555	.	0.690542	0.14688	N	0.304307	T	0.53706	0.1813	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.19445	0.015;0.036;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.37314	-0.9711	10	0.23891	T	0.37	-0.573	11.6031	0.51015	0.3702:0.0:0.6298:0.0	.	922;928;912	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	H	912;908;928;922	ENSP00000368614:R912H;ENSP00000042381:R908H;ENSP00000400099:R928H	ENSP00000042381:R908H	R	+	2	0	FAM65A	66135825	0.000000	0.05858	0.979000	0.43373	0.997000	0.91878	-0.053000	0.11846	0.321000	0.23259	0.655000	0.94253	CGC		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
CTCF	10664	broad.mit.edu	37	16	67650710	67650710	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67650710C>T	ENST00000264010.4	+	5	1459	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.R11W	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	339			R -> W (in a Wilms' tumor). {ECO:0000269|PubMed:11782357}.		chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R339W(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGAATTGGTTCGGCATCGTCG	0.483																																					p.R11W	Colon(175;1200 1966 6945 23069 27405)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31T	16						.						327.0	269.0	288.0					16																	67650710		2198	4300	6498	66208211	SO:0001583	missense	10664	exon3			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1015C>T	16.37:g.67650710C>T	ENSP00000264010:p.Arg339Trp		66208211	NM_001191022	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534257	0.85812	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.26660	1.72;1.72	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199220	0.33346	N	0.005003	T	0.54143	0.1840	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59836	-0.7379	10	0.66056	D	0.02	.	13.3046	0.60345	0.1581:0.8419:0.0:0.0	.	339	P49711	CTCF_HUMAN	W	339;11	ENSP00000264010:R339W;ENSP00000384707:R11W	ENSP00000264010:R339W	R	+	1	2	CTCF	66208211	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.529000	0.53532	2.553000	0.86117	0.558000	0.71614	CGG		0.483	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
GFOD2	81577	broad.mit.edu	37	16	67709826	67709826	+	Silent	SNP	G	G	A	rs142530623		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67709826G>A	ENST00000268797.7	-	3	735	c.390C>T	c.(388-390)ttC>ttT	p.F130F	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	130					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.F130F(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCATGCGCACGAAGGCAGGCA	0.592																																					p.F130F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C390T	16						.						103.0	83.0	89.0					16																	67709826		2198	4300	6498	66267327	SO:0001819	synonymous_variant	81577	exon3			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.390C>T	16.37:g.67709826G>A			66267327	NM_030819	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Silent	SNP	ENST00000268797.7	37	CCDS10845.1																																																																																				0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819	
CENPT	80152	broad.mit.edu	37	16	67859647	67859647	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67859647G>A	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E229K|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.E244K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E298K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E244K(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CACGCAGATGGAACTCAACAA	0.572																																					p.E244K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	16						.						104.0	112.0	109.0					16																	67859647		2103	4250	6353	66417148	SO:0001628	intergenic_variant	55815	exon8			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859647G>A			66417148	NM_018430	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341761	0.61073	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.7	5.7	0.88788	.	0.083367	0.47852	D	0.000220	T	0.43743	0.1261	L	0.41824	1.3	0.37050	D	0.897563	P;P;P;P	0.40970	0.734;0.734;0.487;0.487	B;B;B;B	0.39503	0.301;0.301;0.301;0.301	T	0.47560	-0.9108	9	0.27785	T	0.31	-17.6965	12.3218	0.54989	0.0796:0.0:0.9204:0.0	.	229;298;34;244	E7ENJ7;B4DXD0;B4DY78;Q2TAA8	.;.;.;TXIP1_HUMAN	K	229;244;34	.	ENSP00000373485:E244K	E	+	1	0	TSNAXIP1	66417148	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.884000	0.63135	2.679000	0.91253	0.655000	0.94253	GAA		0.572	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
CENPT	80152	broad.mit.edu	37	16	67861792	67861792	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:67861792G>A	ENST00000562787.1	-	0	2345				CENPT_ENST00000562947.1_5'Flank|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E610K|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.E625K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E679K	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E625K(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGAGGGTGACGAGAAGGAAGA	0.592																																					p.E625K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1873A	16						.						80.0	89.0	86.0					16																	67861792		2198	4300	6498	66419293	SO:0001628	intergenic_variant	55815	exon16			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67861792G>A			66419293	NM_018430	Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573368	0.65765	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	.	.	.	6.04	2.79	0.32731	.	0.132626	0.48286	D	0.000183	T	0.27524	0.0676	L	0.56769	1.78	0.09310	N	1	P;P;P;P	0.44260	0.83;0.83;0.655;0.733	B;B;B;B	0.34652	0.131;0.187;0.093;0.187	T	0.22034	-1.0228	9	0.40728	T	0.16	-16.5044	8.4095	0.32636	0.0844:0.2264:0.6893:0.0	.	610;679;333;625	E7ENJ7;B4DXD0;Q2TAA8-2;Q2TAA8	.;.;.;TXIP1_HUMAN	K	610;625	.	ENSP00000373485:E625K	E	+	1	0	TSNAXIP1	66419293	0.686000	0.27661	0.003000	0.11579	0.047000	0.14425	1.336000	0.33850	1.572000	0.49736	0.561000	0.74099	GAG		0.592	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082	
DPEP3	64180	broad.mit.edu	37	16	68012447	68012447	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68012447C>T	ENST00000268793.4	-	3	945	c.572G>A	c.(571-573)cGc>cAc	p.R191H	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	166					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.R191H(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGCACACATGCGGTGAATGAG	0.582																																					p.R191H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572A	16						.						182.0	161.0	168.0					16																	68012447		2198	4300	6498	66569948	SO:0001583	missense	64180	exon3			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.572G>A	16.37:g.68012447C>T	ENSP00000268793:p.Arg191His		66569948	NM_001129758	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906318	0.92107	.	.	ENSG00000141096	ENST00000268793	T	0.26373	1.74	4.88	4.88	0.63580	.	0.056597	0.64402	D	0.000001	T	0.51568	0.1682	M	0.94021	3.485	0.58432	D	0.999999	D	0.63880	0.993	P	0.51055	0.657	T	0.68269	-0.5453	10	0.87932	D	0	-0.1135	15.5407	0.76043	0.0:1.0:0.0:0.0	.	166	Q9H4B8	DPEP3_HUMAN	H	191	ENSP00000268793:R191H	ENSP00000268793:R191H	R	-	2	0	DPEP3	66569948	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	6.920000	0.75799	2.269000	0.75478	0.561000	0.74099	CGC		0.582	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	
DDX28	55794	broad.mit.edu	37	16	68055913	68055913	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68055913C>A	ENST00000332395.5	-	1	1857	c.1193G>T	c.(1192-1194)gGa>gTa	p.G398V	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	398	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.G398V(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CAGAACAGTTCCTGAGGGACC	0.498																																					p.G398V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1193T	16						.						116.0	99.0	104.0					16																	68055913		2198	4300	6498	66613414	SO:0001583	missense	55794	exon1			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1193G>T	16.37:g.68055913C>A	ENSP00000332340:p.Gly398Val		66613414	NM_018380		Missense_Mutation	SNP	ENST00000332395.5	37	CCDS10858.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803214	0.31869	.	.	ENSG00000182810	ENST00000332395	T	0.73575	-0.76	6.01	5.06	0.68205	Helicase, C-terminal (1);	0.248378	0.40728	N	0.001036	T	0.67832	0.2935	L	0.42008	1.315	0.80722	D	1	P	0.37824	0.609	B	0.33690	0.168	T	0.71580	-0.4550	10	0.72032	D	0.01	-14.4507	16.4253	0.83813	0.1326:0.8674:0.0:0.0	.	398	Q9NUL7	DDX28_HUMAN	V	398	ENSP00000332340:G398V	ENSP00000332340:G398V	G	-	2	0	DDX28	66613414	1.000000	0.71417	0.110000	0.21437	0.178000	0.23041	5.649000	0.67936	1.546000	0.49388	-0.175000	0.13238	GGA		0.498	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268883.1	NM_018380	
ZFP90	146198	broad.mit.edu	37	16	68591974	68591974	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68591974G>T	ENST00000570495.1	+	3	399	c.107G>T	c.(106-108)aGg>aTg	p.R36M	ZFP90_ENST00000563169.2_Missense_Mutation_p.R36M|ZFP90_ENST00000398253.2_Missense_Mutation_p.R36M|ZFP90_ENST00000564323.1_Missense_Mutation_p.R36M|ZFP90_ENST00000570884.1_3'UTR			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R36M(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCTGCTCAGAGGAGCTTATAC	0.473																																					p.R36M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G107T	16						.						139.0	139.0	139.0					16																	68591974		2197	4300	6497	67149475	SO:0001583	missense	146198	exon2			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.107G>T	16.37:g.68591974G>T	ENSP00000460547:p.Arg36Met		67149475	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767702	0.69878	.	.	ENSG00000184939	ENST00000398253	T	0.03035	4.07	5.61	4.46	0.54185	Krueppel-associated box (4);	.	.	.	.	T	0.19248	0.0462	M	0.85542	2.76	0.27949	N	0.93721	D	0.76494	0.999	D	0.70487	0.969	T	0.01349	-1.1378	9	0.56958	D	0.05	-9.4217	12.6715	0.56870	0.094:0.0:0.906:0.0	.	36	Q8TF47	ZFP90_HUMAN	M	36	ENSP00000381304:R36M	ENSP00000381304:R36M	R	+	2	0	ZFP90	67149475	0.915000	0.31059	0.998000	0.56505	0.995000	0.86356	1.421000	0.34815	2.651000	0.90000	0.591000	0.81541	AGG		0.473	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
ZFP90	146198	broad.mit.edu	37	16	68597679	68597679	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68597679G>A	ENST00000570495.1	+	5	1281	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZFP90_ENST00000563169.2_Missense_Mutation_p.R330Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.R330Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	330					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R330Q(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAACACCAGCGAATTCACACT	0.512																																					p.R330Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G989A	16						.						63.0	70.0	68.0					16																	68597679		2172	4295	6467	67155180	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.989G>A	16.37:g.68597679G>A	ENSP00000460547:p.Arg330Gln		67155180	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893355	0.91889	.	.	ENSG00000184939	ENST00000398253	T	0.24723	1.84	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49270	0.1547	L	0.52823	1.66	0.41641	D	0.989072	D	0.89917	1.0	D	0.97110	1.0	T	0.36335	-0.9752	9	0.72032	D	0.01	-18.6122	18.3732	0.90420	0.0:0.0:1.0:0.0	.	330	Q8TF47	ZFP90_HUMAN	Q	330	ENSP00000381304:R330Q	ENSP00000381304:R330Q	R	+	2	0	ZFP90	67155180	0.127000	0.22367	1.000000	0.80357	0.996000	0.88848	2.361000	0.44160	2.941000	0.99782	0.655000	0.94253	CGA		0.512	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
ZFP90	146198	broad.mit.edu	37	16	68598026	68598026	+	Missense_Mutation	SNP	G	G	A	rs199604310		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68598026G>A	ENST00000570495.1	+	5	1628	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	ZFP90_ENST00000563169.2_Missense_Mutation_p.E446K|ZFP90_ENST00000398253.2_Missense_Mutation_p.E446K			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	446					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E446K(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CACTCTTACCGAAGTGAAATC	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22880	0.0		0.0	False		,,,				2504	0.0				p.E446K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1336A	16						.						104.0	100.0	101.0					16																	68598026		1993	4183	6176	67155527	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1336G>A	16.37:g.68598026G>A	ENSP00000460547:p.Glu446Lys		67155527	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.12	1.842870	0.32606	.	.	ENSG00000184939	ENST00000398253	T	0.15256	2.44	5.66	4.7	0.59300	.	.	.	.	.	T	0.12774	0.0310	N	0.17312	0.475	0.33789	D	0.625237	B	0.24426	0.103	B	0.17098	0.017	T	0.10291	-1.0636	9	0.87932	D	0	-6.3161	14.8898	0.70600	0.0:0.1439:0.8561:0.0	.	446	Q8TF47	ZFP90_HUMAN	K	446	ENSP00000381304:E446K	ENSP00000381304:E446K	E	+	1	0	ZFP90	67155527	0.978000	0.34361	0.844000	0.33320	0.438000	0.31896	4.032000	0.57274	1.532000	0.49169	0.655000	0.94253	GAA		0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
ZFP90	146198	broad.mit.edu	37	16	68598240	68598240	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68598240G>T	ENST00000570495.1	+	5	1842	c.1550G>T	c.(1549-1551)aGa>aTa	p.R517I	ZFP90_ENST00000563169.2_Missense_Mutation_p.R517I|ZFP90_ENST00000398253.2_Missense_Mutation_p.R517I			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	517					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R517I(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAGCATCACAGAATTCATACT	0.418																																					p.R517I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1550T	16						.						62.0	68.0	66.0					16																	68598240		2192	4299	6491	67155741	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1550G>T	16.37:g.68598240G>T	ENSP00000460547:p.Arg517Ile		67155741	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684744	0.68157	.	.	ENSG00000184939	ENST00000398253	T	0.24908	1.83	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47414	0.1444	M	0.68317	2.08	0.52099	D	0.999948	D	0.69078	0.997	P	0.59889	0.865	T	0.37150	-0.9718	9	0.66056	D	0.02	-16.3368	17.8359	0.88697	0.0:0.0:1.0:0.0	.	517	Q8TF47	ZFP90_HUMAN	I	517	ENSP00000381304:R517I	ENSP00000381304:R517I	R	+	2	0	ZFP90	67155741	0.040000	0.19996	1.000000	0.80357	0.977000	0.68977	1.811000	0.38942	2.891000	0.99171	0.655000	0.94253	AGA		0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
ZFP90	146198	broad.mit.edu	37	16	68598576	68598576	+	Missense_Mutation	SNP	G	G	T	rs184859531		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68598576G>T	ENST00000570495.1	+	5	2178	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I	ZFP90_ENST00000563169.2_Missense_Mutation_p.R629I|ZFP90_ENST00000398253.2_Missense_Mutation_p.R629I			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	629					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R629I(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AAACACCAGAGAATTCATACT	0.373																																					p.R629I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1886T	16						.						64.0	68.0	66.0					16																	68598576		1999	4200	6199	67156077	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1886G>T	16.37:g.68598576G>T	ENSP00000460547:p.Arg629Ile		67156077	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.717657|2.717657	0.48622|0.48622	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000327567|ENST00000398253	.|T	.|0.10005	.|2.92	5.02|5.02	4.0|4.0	0.46444|0.46444	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.06872	.|0.0175	L|L	0.29908|0.29908	0.895|0.895	0.42923|0.42923	D|D	0.994296|0.994296	.|P	.|0.35745	.|0.518	.|B	.|0.29663	.|0.105	.|T	.|0.12400	.|-1.0549	.|9	0.19147|0.87932	T|D	0.46|0	-15.0054|-15.0054	5.9365|5.9365	0.19169|0.19169	0.0948:0.0:0.7163:0.1889|0.0948:0.0:0.7163:0.1889	.|.	.|629	.|Q8TF47	.|ZFP90_HUMAN	X|I	102|629	.|ENSP00000381304:R629I	ENSP00000329859:E102X|ENSP00000381304:R629I	E|R	+|+	1|2	0|0	ZFP90|ZFP90	67156077|67156077	0.690000|0.690000	0.27699|0.27699	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	2.477000|2.477000	0.45180|0.45180	2.786000|2.786000	0.95864|0.95864	0.484000|0.484000	0.47621|0.47621	GAA|AGA		0.373	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
CDH3	1001	broad.mit.edu	37	16	68729808	68729808	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68729808C>T	ENST00000264012.4	+	15	2806	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	CDH3_ENST00000429102.2_Silent_p.I754I|CDH3_ENST00000581171.1_Silent_p.I699I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	754					adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I754I(2)|p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAGATGAAATCGGCAACTTTA	0.592																																					p.I754I												.	.	4	Unknown(2)|Substitution - coding silent(2)	large_intestine(2)|breast(2)	c.C2262T	16						.						69.0	50.0	56.0					16																	68729808		2198	4300	6498	67287309	SO:0001819	synonymous_variant	1001	exon15			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.2262C>T	16.37:g.68729808C>T			67287309	NM_001793	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	CCDS10868.1																																																																																				0.592	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
TANGO6	79613	broad.mit.edu	37	16	68894270	68894270	+	Missense_Mutation	SNP	G	G	A	rs77249067	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68894270G>A	ENST00000261778.1	+	2	590	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	193						integral component of membrane (GO:0016021)		p.R193Q(1)									GATGCAACTCGAAGACTGTAC	0.512													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19620	0.0		0.0	False		,,,				2504	0.0				p.R193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	16						.	G	GLN/ARG	8,4048		0,8,2020	201.0	194.0	196.0		578	1.4	1.0	16	dbSNP_133	196	0,8412		0,0,4206	yes	missense	TMCO7	NM_024562.1	43	0,8,6226	AA,AG,GG		0.0,0.1972,0.0642	probably-damaging	193/1095	68894270	8,12460	2028	4206	6234	67451771	SO:0001583	missense	79613	exon2				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.578G>A	16.37:g.68894270G>A	ENSP00000261778:p.Arg193Gln		67451771	NM_024562	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.63	2.593424	0.46214	0.001972	0.0	ENSG00000103047	ENST00000261778	T	0.67698	-0.28	5.01	1.44	0.22558	.	.	.	.	.	T	0.63129	0.2485	M	0.72894	2.215	0.25321	N	0.989113	B;B	0.23735	0.09;0.037	B;B	0.10450	0.005;0.005	T	0.56360	-0.7992	9	0.46703	T	0.11	-4.2864	10.9965	0.47580	0.2567:0.0:0.7433:0.0	.	193;32	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	Q	193	ENSP00000261778:R193Q	ENSP00000261778:R193Q	R	+	2	0	TMCO7	67451771	0.212000	0.23540	0.996000	0.52242	0.883000	0.51084	0.554000	0.23407	0.519000	0.28406	0.561000	0.74099	CGA		0.512	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
TANGO6	79613	broad.mit.edu	37	16	68901033	68901033	+	Missense_Mutation	SNP	C	C	T	rs556600020		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:68901033C>T	ENST00000261778.1	+	4	916	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	302						integral component of membrane (GO:0016021)		p.R302W(1)									AGCTTGGCTTCGGCGTCTATG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		14981	0.0		0.001	False		,,,				2504	0.0				p.R302W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C904T	16						.						124.0	124.0	124.0					16																	68901033		1934	4123	6057	67458534	SO:0001583	missense	79613	exon4				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.904C>T	16.37:g.68901033C>T	ENSP00000261778:p.Arg302Trp		67458534	NM_024562	Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718583	0.89205	.	.	ENSG00000103047	ENST00000261778	T	0.70986	-0.53	5.83	5.83	0.93111	.	.	.	.	.	D	0.85635	0.5742	M	0.80982	2.52	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86678	0.1915	9	0.87932	D	0	-7.5079	18.8787	0.92349	0.0:1.0:0.0:0.0	.	302;141	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	W	302	ENSP00000261778:R302W	ENSP00000261778:R302W	R	+	1	2	TMCO7	67458534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.703000	0.61824	2.755000	0.94549	0.650000	0.86243	CGG		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
CIRH1A	84916	broad.mit.edu	37	16	69199408	69199408	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:69199408C>A	ENST00000314423.7	+	15	1989	c.1812C>A	c.(1810-1812)ttC>ttA	p.F604L	CIRH1A_ENST00000352319.4_Missense_Mutation_p.F489L|CIRH1A_ENST00000563094.1_Missense_Mutation_p.F604L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	604					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.F604L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTACATGTTCTGCATCATTG	0.423																																					p.F604L	Melanoma(69;1156 1278 4951 8715 52012)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1812A	16						.						176.0	133.0	147.0					16																	69199408		2198	4300	6498	67756909	SO:0001583	missense	84916	exon15			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1812C>A	16.37:g.69199408C>A	ENSP00000327179:p.Phe604Leu		67756909	NM_032830	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939570	0.52972	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.36699	1.79;1.24	6.17	3.14	0.36123	.	0.140435	0.64402	N	0.000003	T	0.22360	0.0539	L	0.37561	1.115	0.45899	D	0.998742	B;B	0.24043	0.015;0.096	B;B	0.25614	0.004;0.062	T	0.06826	-1.0805	10	0.06099	T	0.92	.	7.7315	0.28789	0.1249:0.6892:0.1202:0.0656	.	604;604	Q969X6;Q969X6-3	CIR1A_HUMAN;.	L	604;489	ENSP00000327179:F604L;ENSP00000339164:F489L	ENSP00000327179:F604L	F	+	3	2	CIRH1A	67756909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.179000	0.50887	0.465000	0.27167	0.655000	0.94253	TTC		0.423	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830	
VPS4A	27183	broad.mit.edu	37	16	69354176	69354176	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:69354176C>A	ENST00000254950.11	+	7	909	c.753C>A	c.(751-753)ttC>ttA	p.F251L	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.F275L|COG8_ENST00000564419.1_5'UTR	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)									p.F251L(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				AAACGGAGTTCTTGGTCCAGA	0.572																																					p.F251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C753A	16						.						53.0	63.0	60.0					16																	69354176		1891	4102	5993	67911677	SO:0001583	missense	27183	exon7			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.753C>A	16.37:g.69354176C>A	ENSP00000254950:p.Phe251Leu		67911677	NM_013245		Missense_Mutation	SNP	ENST00000254950.11	37	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777682	0.49786	.	.	ENSG00000132612	ENST00000254950	D	0.86865	-2.18	6.07	4.09	0.47781	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.044361	0.85682	D	0.000000	T	0.75443	0.3850	N	0.02708	-0.52	0.80722	D	1	B	0.32338	0.365	B	0.42798	0.398	T	0.68398	-0.5419	10	0.14656	T	0.56	-30.9348	12.139	0.53986	0.0:0.856:0.0:0.144	.	251	Q9UN37	VPS4A_HUMAN	L	251	ENSP00000254950:F251L	ENSP00000254950:F251L	F	+	3	2	VPS4A	67911677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.187000	0.42602	0.853000	0.35312	-0.137000	0.14449	TTC		0.572	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245	
TERF2	7014	broad.mit.edu	37	16	69404525	69404525	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:69404525C>A	ENST00000254942.3	-	5	717	c.701G>T	c.(700-702)aGa>aTa	p.R234I	TERF2_ENST00000603068.1_Missense_Mutation_p.R192I|TERF2_ENST00000569611.2_5'UTR|TERF2_ENST00000567296.2_Missense_Mutation_p.R234I	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	234	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)	p.R192I(1)		NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GAGATCATTTCTCAGCTTCTA	0.403																																					p.R192I	Ovarian(13;63 524 30420 31710 34037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575T	16						.						125.0	121.0	122.0					16																	69404525		2198	4300	6498	67962026	SO:0001583	missense	7014	exon5				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.701G>T	16.37:g.69404525C>A	ENSP00000254942:p.Arg234Ile		67962026	NM_005652		Missense_Mutation	SNP	ENST00000254942.3	37		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359202	0.61403	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.28	4.31	0.51392	Telomere repeat-binding factor, dimerisation domain (4);	0.150674	0.64402	D	0.000014	T	0.51568	0.1682	L	0.27053	0.805	0.80722	D	1	D;P	0.57571	0.98;0.85	P;P	0.55923	0.787;0.543	T	0.55088	-0.8195	9	0.87932	D	0	-9.3693	10.153	0.42805	0.0:0.9063:0.0:0.0937	.	192;192	Q15554-2;Q15554	.;TERF2_HUMAN	I	192	.	ENSP00000254942:R192I	R	-	2	0	TERF2	67962026	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.606000	0.24194	1.207000	0.43291	0.555000	0.69702	AGA		0.403	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2		
NQO1	1728	broad.mit.edu	37	16	69752152	69752152	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:69752152T>C	ENST00000320623.5	-	3	688	c.177A>G	c.(175-177)aaA>aaG	p.K59K	NQO1_ENST00000561500.1_Silent_p.K59K|NQO1_ENST00000439109.2_Silent_p.K59K|NQO1_ENST00000564043.1_Silent_p.K38K|NQO1_ENST00000379046.2_Silent_p.K59K|NQO1_ENST00000379047.3_Silent_p.K59K	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	59					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)	p.K59K(1)		autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGTCCTTCAGTTTACCTGCAG	0.512																																					p.K59K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A177G	16						.						73.0	80.0	77.0					16																	69752152		2198	4300	6498	68309653	SO:0001819	synonymous_variant	1728	exon3			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.177A>G	16.37:g.69752152T>C			68309653	NM_000903	B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Silent	SNP	ENST00000320623.5	37	CCDS10883.1																																																																																				0.512	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2		
WWP2	11060	broad.mit.edu	37	16	69965465	69965465	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:69965465C>T	ENST00000359154.2	+	15	1676	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	WWP2_ENST00000448661.1_Silent_p.F525F|WWP2_ENST00000356003.2_Silent_p.F525F|WWP2_ENST00000544162.1_3'UTR|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Silent_p.F86F|WWP2_ENST00000542271.1_Silent_p.F409F	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	525					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.F525F(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACGCTTTTCGAAGATTCCT	0.502																																					p.F86F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258T	16						.						87.0	77.0	80.0					16																	69965465		2198	4300	6498	68522966	SO:0001819	synonymous_variant	11060	exon5			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1575C>T	16.37:g.69965465C>T			68522966	NM_199424	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																				0.502	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
AARS	16	broad.mit.edu	37	16	70302242	70302242	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70302242C>T	ENST00000261772.8	-	8	1146	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.A335T(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TTTTCATGGGCGTATCGGACA	0.507																																					p.A335T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	16						.						114.0	100.0	104.0					16																	70302242		2198	4300	6498	68859743	SO:0001583	missense	16	exon8			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1003G>A	16.37:g.70302242C>T	ENSP00000261772:p.Ala335Thr		68859743	NM_001605		Missense_Mutation	SNP	ENST00000261772.8	37	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884537	0.72410	.	.	ENSG00000090861	ENST00000261772	T	0.73575	-0.76	5.77	4.68	0.58851	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.203421	0.53938	D	0.000052	D	0.85741	0.5767	M	0.93854	3.465	0.39068	D	0.960652	P;P	0.43788	0.817;0.809	B;P	0.52823	0.442;0.71	D	0.88183	0.2872	10	0.87932	D	0	-7.6595	10.3972	0.44207	0.666:0.334:0.0:0.0	.	343;335	E7ETK8;P49588	.;SYAC_HUMAN	T	335	ENSP00000261772:A335T	ENSP00000261772:A335T	A	-	1	0	AARS	68859743	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	3.334000	0.52097	1.026000	0.39733	-0.271000	0.10264	GCC		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605	
DDX19A	55308	broad.mit.edu	37	16	70399022	70399022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70399022C>T	ENST00000302243.7	+	7	755	c.592C>T	c.(592-594)Cga>Tga	p.R198*	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000417604.2_Nonsense_Mutation_p.R167*|DDX19A_ENST00000443119.2_Nonsense_Mutation_p.R108*	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	198	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R198*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CTATGCCGTTCGAGGCAATAA	0.483																																					p.R198X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C592T	16						.						97.0	86.0	89.0					16																	70399022		2198	4300	6498	68956523	SO:0001587	stop_gained	55308	exon7			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.592C>T	16.37:g.70399022C>T	ENSP00000306117:p.Arg198*		68956523	NM_018332	B2RPL0|B4DRZ7|Q53FM0	Nonsense_Mutation	SNP	ENST00000302243.7	37	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093155	0.76756	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	.	.	.	5.42	3.48	0.39840	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0623	0.42282	0.0:0.8416:0.0:0.1584	.	.	.	.	X	198;90;167;108	.	ENSP00000306209:R90X	R	+	1	2	DDX19A	68956523	0.998000	0.40836	0.999000	0.59377	0.705000	0.40729	2.814000	0.48010	0.670000	0.31165	0.655000	0.94253	CGA		0.483	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332	
SF3B3	23450	broad.mit.edu	37	16	70602203	70602203	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70602203C>A	ENST00000302516.5	+	22	3181	c.2970C>A	c.(2968-2970)atC>atA	p.I990I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	990					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.I990I(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCAATTATATCTCTGGGATCC	0.418																																					p.I990I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2970A	16						.						117.0	114.0	115.0					16																	70602203		2198	4300	6498	69159704	SO:0001819	synonymous_variant	23450	exon22			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2970C>A	16.37:g.70602203C>A			69159704	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	CCDS10894.1																																																																																				0.418	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	
VAC14	55697	broad.mit.edu	37	16	70765509	70765509	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70765509G>T	ENST00000261776.5	-	14	1810	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	517					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.S517Y(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AGTTGAAGGAGAACATTCTAA	0.433																																					p.S517Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550A	16						.						135.0	137.0	137.0					16																	70765509		2198	4300	6498	69323010	SO:0001583	missense	55697	exon14			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1550C>A	16.37:g.70765509G>T	ENSP00000261776:p.Ser517Tyr		69323010	NM_018052	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084951	0.94100	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.67953	2.075	0.80722	D	1	D	0.55605	0.972	P	0.48227	0.571	T	0.74487	-0.3649	9	0.87932	D	0	-10.7973	19.6058	0.95582	0.0:0.0:1.0:0.0	.	517	Q08AM6	VAC14_HUMAN	Y	517	.	ENSP00000261776:S517Y	S	-	2	0	VAC14	69323010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.250000	0.95477	2.722000	0.93159	0.655000	0.94253	TCT		0.433	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052	
HYDIN	54768	broad.mit.edu	37	16	70852466	70852466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70852466G>A	ENST00000393567.2	-	84	14587	c.14437C>T	c.(14437-14439)Cga>Tga	p.R4813*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4813					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R4764*(1)|p.R4812*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTCGTTTCGGAAGATCACC	0.512																																					p.R4812X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C14434T	16						.						11.0	9.0	10.0					16																	70852466		1744	3957	5701	69409967	SO:0001587	stop_gained	54768	exon84			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14437C>T	16.37:g.70852466G>A	ENSP00000377197:p.Arg4813*		69409967	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	56	25.720040	0.99966	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.84	3.85	0.44370	.	0.376195	0.15072	U	0.282154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9321	0.70923	0.0:0.0:0.7384:0.2616	.	.	.	.	X	4813;4812	.	ENSP00000313052:R4812X	R	-	1	2	HYDIN	69409967	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.669000	0.46825	0.779000	0.33543	0.609000	0.83330	CGA		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70884495	70884495	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70884495G>A	ENST00000393567.2	-	74	12657	c.12507C>T	c.(12505-12507)tgC>tgT	p.C4169C	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4169					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.C4168C(1)|p.C4120C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCCACATTGCAGATCAAAT	0.443																																					p.C4168C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C12504T	16						.						58.0	51.0	53.0					16																	70884495		1845	4095	5940	69441996	SO:0001819	synonymous_variant	54768	exon74			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12507C>T	16.37:g.70884495G>A			69441996	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70908454	70908454	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70908454C>A	ENST00000393567.2	-	64	10852	c.10702G>T	c.(10702-10704)Gat>Tat	p.D3568Y	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3568					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.D3567Y(1)|p.D3519Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCAGCTGTATCTCCAGGAGAA	0.418																																					p.D3567Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10699T	16						.						4.0	3.0	3.0					16																	70908454		1601	3684	5285	69465955	SO:0001583	missense	54768	exon64			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10702G>T	16.37:g.70908454C>A	ENSP00000377197:p.Asp3568Tyr		69465955	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897574	0.33535	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00922	5.54	4.71	1.53	0.23141	.	0.798432	0.09936	U	0.736629	T	0.01905	0.0060	L	0.44542	1.39	0.80722	D	1	P	0.49696	0.927	P	0.50440	0.641	T	0.64127	-0.6480	10	0.72032	D	0.01	.	8.9188	0.35599	0.0:0.7403:0.0:0.2597	.	3567	F8WD23	.	Y	3568;3567	ENSP00000377197:D3568Y	ENSP00000313052:D3567Y	D	-	1	0	HYDIN	69465955	0.906000	0.30813	0.837000	0.33122	0.273000	0.26683	0.209000	0.17435	0.029000	0.15352	-0.424000	0.05967	GAT		0.418	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70925549	70925549	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70925549G>A	ENST00000393567.2	-	57	9806	c.9656C>T	c.(9655-9657)gCa>gTa	p.A3219V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3219					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A3218V(1)|p.A3170V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGTCTTACGCTTTCTTTTG	0.358																																					p.A3218V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9653T	16						.						1.0	1.0	1.0					16																	70925549		129	267	396	69483050	SO:0001630	splice_region_variant	54768	exon57			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9656+1C>T	16.37:g.70925549G>A			69483050	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587434	0.28268	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00932	5.53	5.2	-10.4	0.00318	.	2.391630	0.02819	N	0.125359	T	0.00580	0.0019	N	0.04043	-0.29	0.58432	D	0.999998	B	0.21071	0.051	B	0.15870	0.014	T	0.50642	-0.8804	9	.	.	.	.	14.0573	0.64776	0.1296:0.5461:0.3243:0.0	.	3218	F8WD23	.	V	3219;3218	ENSP00000377197:A3219V	.	A	-	2	0	HYDIN	69483050	0.000000	0.05858	0.036000	0.18154	0.342000	0.28953	-3.480000	0.00457	-3.282000	0.00197	-0.430000	0.05897	GCA		0.358	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		Missense_Mutation
HYDIN	54768	broad.mit.edu	37	16	70937662	70937662	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70937662G>T	ENST00000393567.2	-	52	8865	c.8715C>A	c.(8713-8715)gtC>gtA	p.V2905V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2905					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V2856V(1)|p.V462V(1)|p.V2904V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCTTCAAAGACACCAACTG	0.468																																					p.V2904V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C8712A	16						.						1.0	1.0	1.0					16																	70937662		214	591	805	69495163	SO:0001819	synonymous_variant	54768	exon52			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8715C>A	16.37:g.70937662G>T			69495163	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.468	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70937921	70937921	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70937921G>T	ENST00000393567.2	-	51	8713	c.8563C>A	c.(8563-8565)Ctg>Atg	p.L2855M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2855					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L412M(1)|p.L2854M(1)|p.L2806M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGTGTTCAGGATTGTTAGC	0.458																																					p.L2854M												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C8560A	16						.						16.0	18.0	17.0					16																	70937921		1689	4068	5757	69495422	SO:0001583	missense	54768	exon51			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8563C>A	16.37:g.70937921G>T	ENSP00000377197:p.Leu2855Met		69495422	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	8.410	0.843977	0.16963	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00949	5.51	4.6	2.65	0.31530	.	0.000000	0.27871	U	0.017514	T	0.00967	0.0032	L	0.32530	0.975	0.80722	D	1	B	0.26002	0.139	B	0.28305	0.088	T	0.64601	-0.6369	10	0.27785	T	0.31	.	8.38	0.32466	0.2349:0.0:0.7651:0.0	.	2854	F8WD23	.	M	2855;2854	ENSP00000377197:L2855M	ENSP00000313052:L2854M	L	-	1	2	HYDIN	69495422	1.000000	0.71417	0.998000	0.56505	0.257000	0.26127	4.454000	0.60068	0.557000	0.29117	-0.507000	0.04495	CTG		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70942262	70942262	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70942262G>A	ENST00000393567.2	-	49	8439	c.8289C>T	c.(8287-8289)ttC>ttT	p.F2763F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2763					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.F2714F(1)|p.F2762F(1)|p.F320F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAGTTCCCGAACTCATCAG	0.488																																					p.F2762F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C8286T	16						.						10.0	9.0	10.0					16																	70942262		1775	4013	5788	69499763	SO:0001819	synonymous_variant	54768	exon49			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8289C>T	16.37:g.70942262G>A			69499763	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70942693	70942693	+	Silent	SNP	G	G	A	rs183164278		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70942693G>A	ENST00000393567.2	-	48	8226	c.8076C>T	c.(8074-8076)ttC>ttT	p.F2692F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2692					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.F249F(1)|p.F2691F(1)|p.F249L(1)|p.F2691L(1)|p.F2643L(1)|p.F2643F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTGAATCTCGAAGACTTGGT	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23324	0.0		0.0	False		,,,				2504	0.0				p.F2691F												.	.	6	Substitution - Missense(3)|Substitution - coding silent(3)	large_intestine(3)|kidney(3)	c.C8073T	16						.						155.0	133.0	140.0					16																	70942693		1873	4100	5973	69500194	SO:0001819	synonymous_variant	54768	exon48			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8076C>T	16.37:g.70942693G>A			69500194	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70972530	70972530	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70972530C>T	ENST00000393567.2	-	44	7132	c.6982G>A	c.(6982-6984)Gag>Aag	p.E2328K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2328					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E2279K(1)|p.E2327K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCCGCTCGCGGAGCGCC	0.602																																					p.E2327K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6979A	16						.						20.0	18.0	19.0					16																	70972530		1777	4029	5806	69530031	SO:0001583	missense	54768	exon44			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6982G>A	16.37:g.70972530C>T	ENSP00000377197:p.Glu2328Lys		69530031	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396503	0.62177	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00940	5.52	5.6	5.6	0.85130	.	0.000000	0.33253	U	0.005119	T	0.03348	0.0097	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69157	-0.5219	10	0.34782	T	0.22	.	19.2678	0.93997	0.0:1.0:0.0:0.0	.	2327	F8WD23	.	K	2328;2327	ENSP00000377197:E2328K	ENSP00000313052:E2327K	E	-	1	0	HYDIN	69530031	0.991000	0.36638	0.966000	0.40874	0.017000	0.09413	2.933000	0.48948	2.660000	0.90430	0.603000	0.83216	GAG		0.602	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70986461	70986461	+	Missense_Mutation	SNP	C	C	T	rs373417090		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:70986461C>T	ENST00000393567.2	-	41	6544	c.6394G>A	c.(6394-6396)Gag>Aag	p.E2132K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2132					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E2083K(2)|p.E2131K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGTCATCTCGGAGGCTAAC	0.537																																					p.E2131K												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.G6391A	16						.	C	LYS/GLU	1,4003		0,1,2001	55.0	55.0	55.0		6391	3.9	0.0	16		55	0,8362		0,0,4181	no	missense	HYDIN	NM_032821.2	56	0,1,6182	TT,TC,CC		0.0,0.025,0.0081	probably-damaging	2131/5121	70986461	1,12365	2002	4181	6183	69543962	SO:0001583	missense	54768	exon41			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6394G>A	16.37:g.70986461C>T	ENSP00000377197:p.Glu2132Lys		69543962	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796776	0.50208	2.5E-4	0.0	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00902	5.56	3.91	3.91	0.45181	.	0.227862	0.21098	U	0.080205	T	0.01523	0.0049	M	0.62723	1.935	0.80722	D	1	D	0.54047	0.964	B	0.41510	0.359	T	0.73017	-0.4115	10	0.27785	T	0.31	.	13.2619	0.60111	0.0:1.0:0.0:0.0	.	2131	F8WD23	.	K	2132;2131	ENSP00000377197:E2132K	ENSP00000313052:E2131K	E	-	1	0	HYDIN	69543962	0.823000	0.29233	0.026000	0.17262	0.094000	0.18550	3.689000	0.54706	2.178000	0.69098	0.195000	0.17529	GAG		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71009119	71009119	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71009119G>A	ENST00000393567.2	-	31	4842	c.4692C>T	c.(4690-4692)gtC>gtT	p.V1564V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1564					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V1515V(1)|p.V1563V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATGTTCTAGGACATAGCTTT	0.478																																					p.V1563V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4689T	16						.						1.0	1.0	1.0					16																	71009119		1077	2308	3385	69566620	SO:0001819	synonymous_variant	54768	exon31			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4692C>T	16.37:g.71009119G>A			69566620	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71052117	71052117	+	Missense_Mutation	SNP	G	G	A	rs199955766		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71052117G>A	ENST00000393567.2	-	23	3709	c.3559C>T	c.(3559-3561)Cgc>Tgc	p.R1187C	HYDIN_ENST00000448089.2_Missense_Mutation_p.R1139C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1187					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R1139C(2)|p.R1187C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTAACGTAGCGAATGAGCTCA	0.502																																					p.R1187C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3559T	16						.						1.0	1.0	1.0					16																	71052117		261	618	879	69609618	SO:0001583	missense	54768	exon23			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3559C>T	16.37:g.71052117G>A	ENSP00000377197:p.Arg1187Cys		69609618	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484496	0.63962	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.04809	5.43;3.55	5.37	5.37	0.77165	.	0.000000	0.32563	U	0.005922	T	0.21307	0.0513	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.00232	-1.1895	10	0.52906	T	0.07	.	18.6874	0.91570	0.0:0.0:1.0:0.0	.	1187	F8WD23	.	C	1187;1187;1139	ENSP00000377197:R1187C;ENSP00000398544:R1139C	ENSP00000313052:R1187C	R	-	1	0	HYDIN	69609618	0.873000	0.30073	0.803000	0.32268	0.496000	0.33645	4.341000	0.59335	2.536000	0.85505	0.505000	0.49811	CGC		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71059336	71059336	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71059336C>T	ENST00000393567.2	-	21	3286	c.3136G>A	c.(3136-3138)Gca>Aca	p.A1046T	HYDIN_ENST00000448089.2_Intron	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1046					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A1046T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGAGGTGCGACGAACTCA	0.572																																					p.A1046T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3136A	16						.						1.0	1.0	1.0					16																	71059336		98	257	355	69616837	SO:0001583	missense	54768	exon21			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3136G>A	16.37:g.71059336C>T	ENSP00000377197:p.Ala1046Thr		69616837	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.970948	0.53614	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.06449	3.3	5.14	4.18	0.49190	.	0.265749	0.18349	U	0.143928	T	0.11110	0.0271	L	0.53249	1.67	0.80722	D	1	D	0.57899	0.981	P	0.48334	0.574	T	0.23691	-1.0181	10	0.21014	T	0.42	.	14.6256	0.68618	0.1473:0.8527:0.0:0.0	.	1046	F8WD23	.	T	1046	ENSP00000377197:A1046T	ENSP00000313052:A1046T	A	-	1	0	HYDIN	69616837	0.967000	0.33354	0.007000	0.13788	0.104000	0.19210	3.357000	0.52277	1.170000	0.42753	0.400000	0.26472	GCA		0.572	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71061732	71061732	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71061732G>A	ENST00000393567.2	-	20	2965	c.2815C>T	c.(2815-2817)Cgg>Tgg	p.R939W	HYDIN_ENST00000448691.1_Missense_Mutation_p.R939W|HYDIN_ENST00000321489.5_Missense_Mutation_p.R939W|HYDIN_ENST00000448089.2_Missense_Mutation_p.R939W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	939					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R939W(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTGGATCCGACGTCCCTTG	0.493																																					p.R939W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2815T	16						.						4.0	3.0	3.0					16																	71061732		1554	3177	4731	69619233	SO:0001583	missense	54768	exon20			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2815C>T	16.37:g.71061732G>A	ENSP00000377197:p.Arg939Trp		69619233	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004076	0.93287	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	5.07	5.07	0.68467	.	0.000000	0.31020	U	0.008406	T	0.33962	0.0881	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.11036	-1.0604	10	0.38643	T	0.18	.	18.0946	0.89485	0.0:0.0:1.0:0.0	.	939;939	Q4G0P3-5;F8WD23	.;.	W	939	ENSP00000377197:R939W;ENSP00000398544:R939W;ENSP00000394826:R939W;ENSP00000314736:R939W	ENSP00000313052:R939W	R	-	1	2	HYDIN	69619233	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	5.070000	0.64376	2.400000	0.81607	0.499000	0.49734	CGG		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71212878	71212878	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71212878G>A	ENST00000393567.2	-	4	484	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	HYDIN_ENST00000538248.1_Missense_Mutation_p.P139S|HYDIN_ENST00000393550.2_Missense_Mutation_p.P112S|HYDIN_ENST00000448089.2_Missense_Mutation_p.P112S|HYDIN_ENST00000448691.1_Missense_Mutation_p.P112S|HYDIN_ENST00000541601.1_Missense_Mutation_p.P129S|HYDIN_ENST00000321489.5_Missense_Mutation_p.P112S|HYDIN_ENST00000288168.10_Missense_Mutation_p.P129S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	112					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.P112S(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTTCACAGGGAGTGTAGTTC	0.388																																					p.P112S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C334T	16						.						109.0	112.0	111.0					16																	71212878		2198	4300	6498	69770379	SO:0001583	missense	54768	exon4			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.334C>T	16.37:g.71212878G>A	ENSP00000377197:p.Pro112Ser		69770379	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631081	0.67015	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.19938	5.23;3.34;3.35;3.35;3.32;3.33;2.98;2.11	5.43	4.42	0.53409	.	0.000000	0.31323	U	0.007852	T	0.35740	0.0942	M	0.69185	2.1	0.34158	D	0.668316	D;D;D;D;D	0.64830	0.969;0.969;0.987;0.987;0.994	P;P;P;P;P	0.58721	0.662;0.527;0.797;0.728;0.844	T	0.34129	-0.9841	10	0.07482	T	0.82	.	16.586	0.84727	0.0:0.2288:0.7712:0.0	.	139;129;129;112;112	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	S	112;112;112;112;112;139;129;129;112	ENSP00000377197:P112S;ENSP00000398544:P112S;ENSP00000394826:P112S;ENSP00000314736:P112S;ENSP00000444970:P139S;ENSP00000437341:P129S;ENSP00000288168:P129S;ENSP00000377181:P112S	ENSP00000288168:P129S	P	-	1	0	HYDIN	69770379	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.038000	0.57318	2.547000	0.85894	0.462000	0.41574	CCC		0.388	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71220669	71220669	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71220669G>A	ENST00000393567.2	-	2	280	c.130C>T	c.(130-132)Cga>Tga	p.R44*	HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R44*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R44*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R44*|HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R61*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R44*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R61*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	44					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R44*(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTACCATTCGGTTTACTTCT	0.408																																					p.R44X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C130T	16						.						140.0	127.0	131.0					16																	71220669		2198	4300	6498	69778170	SO:0001587	stop_gained	54768	exon2			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.130C>T	16.37:g.71220669G>A	ENSP00000377197:p.Arg44*		69778170	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074945	0.55646	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	.	.	.	5.37	1.92	0.25849	.	0.905027	0.08776	U	0.895473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8473	0.63474	0.0:0.0:0.6017:0.3983	.	.	.	.	X	44;44;44;44;44;71;61;61;44	.	ENSP00000288168:R61X	R	-	1	2	HYDIN	69778170	0.370000	0.25047	0.701000	0.30321	0.733000	0.41908	0.890000	0.28295	0.619000	0.30197	0.650000	0.86243	CGA		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
CMTR2	55783	broad.mit.edu	37	16	71317988	71317988	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71317988A>G	ENST00000338099.5	-	3	2172	c.1836T>C	c.(1834-1836)tgT>tgC	p.C612C	CMTR2_ENST00000434935.2_Silent_p.C612C			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	612					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.C612C(1)									GAAGCAATGAACAGCTAAAAG	0.428																																					p.C612C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1836C	16						.						54.0	53.0	53.0					16																	71317988		2198	4300	6498	69875489	SO:0001819	synonymous_variant	55783	exon3			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1836T>C	16.37:g.71317988A>G			69875489	NM_018348	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	ENST00000338099.5	37	CCDS10898.1																																																																																				0.428	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348	
CMTR2	55783	broad.mit.edu	37	16	71318604	71318604	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71318604T>G	ENST00000338099.5	-	3	1556	c.1220A>C	c.(1219-1221)aAa>aCa	p.K407T	CMTR2_ENST00000434935.2_Missense_Mutation_p.K407T			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	407					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.K407T(1)									CAGTTGAAATTTTTGCATAAA	0.313																																					p.K407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1220C	16						.						26.0	28.0	27.0					16																	71318604		2196	4282	6478	69876105	SO:0001583	missense	55783	exon3			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1220A>C	16.37:g.71318604T>G	ENSP00000337512:p.Lys407Thr		69876105	NM_018348	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356163	0.24598	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.15017	2.46;2.46	5.95	5.95	0.96441	.	0.177661	0.47455	D	0.000237	T	0.15219	0.0367	L	0.54323	1.7	0.31422	N	0.674152	B	0.32245	0.361	B	0.26416	0.069	T	0.19811	-1.0294	10	0.56958	D	0.05	-9.7465	6.7077	0.23260	0.1367:0.0731:0.0:0.7902	.	407	Q8IYT2	FTSJ1_HUMAN	T	407	ENSP00000337512:K407T;ENSP00000411148:K407T	ENSP00000337512:K407T	K	-	2	0	FTSJD1	69876105	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.649000	0.37281	2.279000	0.76181	0.402000	0.26972	AAA		0.313	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348	
CMTR2	55783	broad.mit.edu	37	16	71319623	71319623	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71319623C>A	ENST00000338099.5	-	3	537	c.201G>T	c.(199-201)aaG>aaT	p.K67N	CMTR2_ENST00000434935.2_Missense_Mutation_p.K67N			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	67					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.K67N(1)									TTAGGGAGTTCTTCAAATCAA	0.393																																					p.K67N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G201T	16						.						98.0	97.0	97.0					16																	71319623		2198	4300	6498	69877124	SO:0001583	missense	55783	exon3			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.201G>T	16.37:g.71319623C>A	ENSP00000337512:p.Lys67Asn		69877124	NM_018348	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915983	0.52546	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.28895	1.59;1.59	5.7	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.81497	2.545	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.58918	-0.7551	10	0.66056	D	0.02	-22.3545	9.9368	0.41556	0.0:0.8469:0.0:0.1531	.	67	Q8IYT2	FTSJ1_HUMAN	N	67	ENSP00000337512:K67N;ENSP00000411148:K67N	ENSP00000337512:K67N	K	-	3	2	FTSJD1	69877124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.171000	0.42453	1.401000	0.46761	0.655000	0.94253	AAG		0.393	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348	
ZNF23	7571	broad.mit.edu	37	16	71482685	71482685	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71482685T>G	ENST00000393539.2	-	6	2056	c.1243A>C	c.(1243-1245)Aca>Cca	p.T415P	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.T357P|ZNF23_ENST00000428724.2_Missense_Mutation_p.T357P|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.T415P|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.T415P	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	415					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.T415P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTCTCGCCTGTGTGAATTCTC	0.463																																					p.T415P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1243C	16						.						59.0	54.0	55.0					16																	71482685		2198	4300	6498	70040186	SO:0001583	missense	7571	exon6			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1243A>C	16.37:g.71482685T>G	ENSP00000377171:p.Thr415Pro		70040186	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576247	0.65878	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.14	4.14	0.48551	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000343	T	0.47728	0.1461	M	0.78456	2.415	0.48288	D	0.999626	D;D	0.65815	0.987;0.995	D;D	0.63597	0.916;0.916	T	0.52866	-0.8518	10	0.87932	D	0	-15.6216	11.7765	0.51989	0.0:0.0:0.0:1.0	.	415;415	B3KR55;P17027	.;ZNF23_HUMAN	P	415;415;415;357;357	ENSP00000377171:T415P;ENSP00000349796:T415P;ENSP00000395712:T415P;ENSP00000387673:T357P	ENSP00000349796:T415P	T	-	1	0	ZNF23	70040186	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	4.016000	0.57159	2.097000	0.63578	0.454000	0.30748	ACA		0.463	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
ZNF19	7567	broad.mit.edu	37	16	71509404	71509404	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71509404C>A	ENST00000288177.5	-	6	1301	c.1046G>T	c.(1045-1047)aGa>aTa	p.R349I	AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R307I|ZNF19_ENST00000564230.1_Missense_Mutation_p.R349I|ZNF19_ENST00000565100.2_Missense_Mutation_p.R279I|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R349I(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ACTGTGAATTCTCTGGTGCCG	0.413																																					p.R349I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1046T	16						.						76.0	76.0	76.0					16																	71509404		2198	4300	6498	70066905	SO:0001583	missense	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1046G>T	16.37:g.71509404C>A	ENSP00000288177:p.Arg349Ile		70066905	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	6.119	0.390278	0.11581	.	.	ENSG00000157429	ENST00000288177	T	0.24908	1.83	3.25	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.471713	0.15920	N	0.238177	T	0.32823	0.0842	M	0.66560	2.04	0.29154	N	0.878198	P	0.40107	0.703	P	0.46885	0.53	T	0.24012	-1.0172	10	0.87932	D	0	.	7.7848	0.29085	0.0:0.7775:0.0:0.2225	.	349	P17023	ZNF19_HUMAN	I	349	ENSP00000288177:R349I	ENSP00000288177:R349I	R	-	2	0	ZNF19	70066905	0.000000	0.05858	0.331000	0.25455	0.102000	0.19082	-0.085000	0.11250	0.376000	0.24707	-0.150000	0.13652	AGA		0.413	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
CHST4	10164	broad.mit.edu	37	16	71571256	71571256	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71571256C>T	ENST00000338482.5	+	3	1019	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CHST4_ENST00000539698.3_Missense_Mutation_p.R226C|CHST4_ENST00000572450.1_Missense_Mutation_p.R226C|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	226					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.R226C(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GATTGACAGTCGCATTGTGAT	0.552																																					p.R226C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C676T	16						.						75.0	66.0	69.0					16																	71571256		2198	4300	6498	70128757	SO:0001583	missense	10164	exon2			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.676C>T	16.37:g.71571256C>T	ENSP00000341206:p.Arg226Cys		70128757	NM_001166395	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181946	0.57800	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.96651	-4.08;-4.08	6.02	6.02	0.97574	Sulfotransferase domain (1);	0.776024	0.12498	N	0.463611	D	0.97461	0.9169	M	0.73217	2.22	0.29716	N	0.839052	D	0.71674	0.998	P	0.61658	0.892	D	0.94604	0.7798	10	0.54805	T	0.06	-8.9872	13.5981	0.62002	0.0:0.8447:0.1553:0.0	.	226	Q8NCG5	CHST4_HUMAN	C	226	ENSP00000341206:R226C;ENSP00000441204:R226C	ENSP00000341206:R226C	R	+	1	0	CHST4	70128757	0.030000	0.19436	0.924000	0.36721	0.732000	0.41865	0.262000	0.18460	2.865000	0.98341	0.655000	0.94253	CGC		0.552	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
TAT	6898	broad.mit.edu	37	16	71602685	71602685	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71602685C>T	ENST00000355962.4	-	11	1286	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	385					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.E385K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TTCTCAAATTCTGGGAAATGT	0.507																																					p.E385K	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1153A	16						.						78.0	66.0	70.0					16																	71602685		2198	4300	6498	70160186	SO:0001583	missense	6898	exon11				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1153G>A	16.37:g.71602685C>T	ENSP00000348234:p.Glu385Lys		70160186	NM_000353	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510213	0.85282	.	.	ENSG00000198650	ENST00000355962	D	0.87729	-2.29	5.93	5.93	0.95920	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.138311	0.64402	D	0.000004	D	0.84379	0.5459	L	0.42686	1.345	0.80722	D	1	B	0.33103	0.397	B	0.35182	0.197	T	0.79897	-0.1609	10	0.16420	T	0.52	-14.4812	20.3539	0.98825	0.0:1.0:0.0:0.0	.	385	P17735	ATTY_HUMAN	K	385	ENSP00000348234:E385K	ENSP00000348234:E385K	E	-	1	0	TAT	70160186	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.780000	0.68956	2.826000	0.97356	0.655000	0.94253	GAA		0.507	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
TAT	6898	broad.mit.edu	37	16	71609927	71609927	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71609927C>T	ENST00000355962.4	-	3	371	c.238G>A	c.(238-240)Gac>Aac	p.D80N	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	80					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.D80N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ACAGTAGGGTCCCCTTTTTAT	0.498																																					p.D80N	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	16						.						90.0	91.0	90.0					16																	71609927		2198	4300	6498	70167428	SO:0001583	missense	6898	exon3				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.238G>A	16.37:g.71609927C>T	ENSP00000348234:p.Asp80Asn		70167428	NM_000353	B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351065	0.95830	.	.	ENSG00000198650	ENST00000355962	D	0.90620	-2.7	5.75	5.75	0.90469	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95478	0.8531	M	0.90542	3.125	0.80722	D	1	P;D	0.63046	0.901;0.992	P;D	0.66602	0.829;0.945	D	0.93190	0.6582	10	0.07325	T	0.83	-31.2724	19.9361	0.97143	0.0:1.0:0.0:0.0	.	80;80	A1L4G7;P17735	.;ATTY_HUMAN	N	80	ENSP00000348234:D80N	ENSP00000348234:D80N	D	-	1	0	TAT	70167428	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.487000	0.81328	2.716000	0.92895	0.655000	0.94253	GAC		0.498	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
MARVELD3	91862	broad.mit.edu	37	16	71663281	71663281	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71663281C>T	ENST00000268485.3	+	2	523	c.479C>T	c.(478-480)tCg>tTg	p.S160L	MARVELD3_ENST00000299952.4_Missense_Mutation_p.S160L|MARVELD3_ENST00000565261.1_Missense_Mutation_p.R106W|MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000567566.1_Missense_Mutation_p.S160L|RP11-432I5.2_ENST00000562763.1_RNA	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	160	Pro-rich.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)		p.S160L(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GAACCCCCTTCGGAGAGATAT	0.512																																					p.S160L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	16						.						88.0	83.0	85.0					16																	71663281		2198	4300	6498	70220782	SO:0001583	missense	91862	exon2			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.479C>T	16.37:g.71663281C>T	ENSP00000268485:p.Ser160Leu		70220782	NM_052858	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247190	0.22796	.	.	ENSG00000140832	ENST00000268485;ENST00000299952	T;T	0.52983	0.67;0.64	5.57	3.52	0.40303	.	0.481200	0.22276	N	0.062182	T	0.43567	0.1253	M	0.67953	2.075	0.20307	N	0.999917	B;B;D	0.55800	0.14;0.14;0.973	B;B;B	0.43052	0.039;0.039;0.406	T	0.43147	-0.9409	10	0.49607	T	0.09	-29.7778	6.5685	0.22525	0.1767:0.7335:0.0:0.0898	.	160;160;183	Q96A59-2;Q96A59;Q9BSH2	.;MALD3_HUMAN;.	L	160	ENSP00000268485:S160L;ENSP00000299952:S160L	ENSP00000268485:S160L	S	+	2	0	MARVELD3	70220782	0.003000	0.15002	0.010000	0.14722	0.038000	0.13279	0.786000	0.26844	1.362000	0.46000	-0.215000	0.12644	TCG		0.512	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858	
AP1G1	164	broad.mit.edu	37	16	71779455	71779455	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71779455A>T	ENST00000299980.4	-	18	2234	c.1793T>A	c.(1792-1794)aTt>aAt	p.I598N	AP1G1_ENST00000569748.1_Missense_Mutation_p.I598N|AP1G1_ENST00000423132.2_Missense_Mutation_p.I601N|AP1G1_ENST00000393512.3_Missense_Mutation_p.I601N|AP1G1_ENST00000564155.1_Missense_Mutation_p.I23N|AP1G1_ENST00000433195.2_Missense_Mutation_p.I621N	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.I598N(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGTCTGCACAATCTCAGTAGG	0.502																																					p.I601N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1802A	16						.						205.0	191.0	196.0					16																	71779455		2198	4300	6498	70336956	SO:0001583	missense	164	exon19			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1793T>A	16.37:g.71779455A>T	ENSP00000299980:p.Ile598Asn		70336956	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018969	0.35606	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.71	5.71	0.89125	Armadillo-type fold (1);	0.120160	0.64402	D	0.000004	T	0.11367	0.0277	L	0.29908	0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.002	T	0.14783	-1.0460	10	0.14252	T	0.57	-2.1634	15.9895	0.80193	1.0:0.0:0.0:0.0	.	598;621;601	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	N	598;601;601;621	ENSP00000299980:I598N;ENSP00000377148:I601N;ENSP00000409153:I601N;ENSP00000403259:I621N	ENSP00000299980:I598N	I	-	2	0	AP1G1	70336956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.906000	0.92626	2.183000	0.69458	0.459000	0.35465	ATT		0.502	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
AP1G1	164	broad.mit.edu	37	16	71807247	71807247	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71807247C>T	ENST00000299980.4	-	4	786	c.345G>A	c.(343-345)acG>acA	p.T115T	AP1G1_ENST00000569748.1_Silent_p.T115T|AP1G1_ENST00000423132.2_Silent_p.T115T|AP1G1_ENST00000393512.3_Silent_p.T115T|AP1G1_ENST00000433195.2_Silent_p.T138T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	115					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.T115T(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTACGAATTGCGTGCTATGAT	0.478																																					p.T115T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G345A	16						.						86.0	83.0	84.0					16																	71807247		2198	4300	6498	70364748	SO:0001819	synonymous_variant	164	exon4			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.345G>A	16.37:g.71807247C>T			70364748	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	CCDS32480.1																																																																																				0.478	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
ZNF821	55565	broad.mit.edu	37	16	71894352	71894352	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:71894352G>A	ENST00000565601.1	-	7	1215	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.R228W|ZNF821_ENST00000564134.1_3'UTR|ZNF821_ENST00000446827.2_Missense_Mutation_p.R228W|ZNF821_ENST00000425432.1_Missense_Mutation_p.R270W	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	270					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.R228W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CGCTGCAGCCGTACTTCCAAA	0.612																																					p.R228W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682T	16						.						70.0	64.0	66.0					16																	71894352		2198	4300	6498	70451853	SO:0001583	missense	55565	exon6			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.808C>T	16.37:g.71894352G>A	ENSP00000455648:p.Arg270Trp		70451853	NM_017530	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	ENST00000565601.1	37	CCDS56006.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.043009	0.55003	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.02197	5.92;4.4;4.4	5.63	-0.28	0.12886	.	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	L	0.57536	1.79	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.99	T	0.00690	-1.1608	10	0.87932	D	0	-12.582	16.7375	0.85451	0.0:0.0:0.3091:0.6909	.	270;228;270	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	W	270;228;228	ENSP00000398089:R270W;ENSP00000313822:R228W;ENSP00000405908:R228W	ENSP00000313822:R228W	R	-	1	2	ZNF821	70451853	0.778000	0.28640	0.220000	0.23810	0.792000	0.44763	1.081000	0.30791	0.014000	0.14944	-0.152000	0.13540	CGG		0.612	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530	
HP	3240	broad.mit.edu	37	16	72094027	72094027	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:72094027G>T	ENST00000355906.5	+	7	517	c.459G>T	c.(457-459)aaG>aaT	p.K153N	HP_ENST00000357763.4_Missense_Mutation_p.K189N|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.K94N|HP_ENST00000570083.1_Missense_Mutation_p.K94N|HP_ENST00000565574.1_Missense_Mutation_p.K94N|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	153					acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.K153N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GGAAGCCCAAGAATCCGGCAA	0.542																																					p.K94N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282T	16						.						16.0	16.0	16.0					16																	72094027		1817	4049	5866	70651528	SO:0001583	missense	3240	exon5				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.459G>T	16.37:g.72094027G>T	ENSP00000348170:p.Lys153Asn		70651528	NM_001126102	B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	G	5.182	0.219145	0.09863	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000357763	T;T	0.48836	0.8;0.8	4.91	3.95	0.45737	Peptidase cysteine/serine, trypsin-like (1);Complement control module (1);	0.524360	0.20088	N	0.099506	T	0.52805	0.1757	M	0.78637	2.42	0.23168	N	0.998185	P;B	0.51653	0.947;0.291	P;B	0.49047	0.599;0.157	T	0.47005	-0.9150	10	0.32370	T	0.25	.	8.0733	0.30701	0.0861:0.1601:0.7538:0.0	.	94;153	Q0VAC5;P00738	.;HPT_HUMAN	N	153;94;129	ENSP00000348170:K153N;ENSP00000381199:K94N	ENSP00000348170:K153N	K	+	3	2	HP	70651528	0.542000	0.26426	0.017000	0.16124	0.561000	0.35649	1.633000	0.37113	1.432000	0.47375	0.591000	0.81541	AAG		0.542	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143	
DHX38	9785	broad.mit.edu	37	16	72130868	72130868	+	Silent	SNP	G	G	A	rs375554088		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:72130868G>A	ENST00000268482.3	+	3	980	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	157					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E157E(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGAAGAAGGAGAAATCGCGGG	0.502																																					p.E157E	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G471A	16						.	G		1,4395	2.1+/-5.4	0,1,2197	113.0	109.0	110.0		471	2.0	1.0	16		110	0,8600		0,0,4300	no	coding-synonymous	DHX38	NM_014003.3		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		157/1228	72130868	1,12995	2198	4300	6498	70688369	SO:0001819	synonymous_variant	9785	exon3			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.471G>A	16.37:g.72130868G>A			70688369	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	CCDS10907.1																																																																																				0.502	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
PMFBP1	83449	broad.mit.edu	37	16	72162690	72162690	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:72162690T>G	ENST00000237353.10	-	14	2215	c.1954A>C	c.(1954-1956)Aaa>Caa	p.K652Q	PMFBP1_ENST00000537465.1_Missense_Mutation_p.K657Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K507Q	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	657						cytoplasm (GO:0005737)		p.K652Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAATTCTCTTTCAACTGTTCC	0.428																																					p.K507Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1519C	16						.						124.0	113.0	117.0					16																	72162690		2198	4300	6498	70720191	SO:0001583	missense	83449	exon15			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1954A>C	16.37:g.72162690T>G	ENSP00000237353:p.Lys652Gln		70720191	NM_001160213	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135065	0.56828	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13778	2.56;2.57;2.56	5.41	5.41	0.78517	.	0.371366	0.23295	N	0.049750	T	0.16599	0.0399	L	0.32530	0.975	0.09310	N	1	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.52957	0.714;0.714;0.714	T	0.13282	-1.0515	10	0.14656	T	0.56	-17.3902	11.754	0.51866	0.0:0.0:0.0:1.0	.	657;652;657	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	Q	657;652;507	ENSP00000443817:K657Q;ENSP00000237353:K652Q;ENSP00000347854:K507Q	ENSP00000237353:K652Q	K	-	1	0	PMFBP1	70720191	0.084000	0.21492	0.011000	0.14972	0.098000	0.18820	3.301000	0.51842	2.265000	0.75225	0.533000	0.62120	AAA		0.428	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293	
ZFHX3	463	broad.mit.edu	37	16	72830969	72830969	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:72830969C>T	ENST00000268489.5	-	9	6284	c.5612G>A	c.(5611-5613)aGc>aAc	p.S1871N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S957N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1871					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1871N(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTGCTGGCTTGGCTGAAG	0.552																																					p.S1871N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5612A	16						.						103.0	108.0	106.0					16																	72830969		2198	4300	6498	71388470	SO:0001583	missense	463	exon9			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5612G>A	16.37:g.72830969C>T	ENSP00000268489:p.Ser1871Asn		71388470	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412258	0.25465	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74002	-0.8;-0.78	5.85	5.85	0.93711	.	0.245586	0.28901	N	0.013765	T	0.59418	0.2192	N	0.08118	0	0.33086	D	0.537329	B	0.27559	0.181	B	0.29353	0.101	T	0.63603	-0.6600	10	0.31617	T	0.26	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	1871	Q15911	ZFHX3_HUMAN	N	1871;957	ENSP00000268489:S1871N;ENSP00000438926:S957N	ENSP00000268489:S1871N	S	-	2	0	ZFHX3	71388470	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.507000	0.60434	2.753000	0.94483	0.655000	0.94253	AGC		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
MLKL	197259	broad.mit.edu	37	16	74708907	74708907	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:74708907G>T	ENST00000308807.7	-	10	1795	c.1332C>A	c.(1330-1332)atC>atA	p.I444I	MLKL_ENST00000306247.7_Silent_p.I236I	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.I444I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ACTCATCAATGATCTCCCGCA	0.552																																					p.I444I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332A	16						.						59.0	60.0	60.0					16																	74708907		2198	4300	6498	73266408	SO:0001819	synonymous_variant	197259	exon10			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1332C>A	16.37:g.74708907G>T			73266408	NM_152649		Silent	SNP	ENST00000308807.7	37	CCDS32487.1																																																																																				0.552	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	
MLKL	197259	broad.mit.edu	37	16	74729391	74729391	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:74729391G>T	ENST00000308807.7	-	2	728	c.265C>A	c.(265-267)Cta>Ata	p.L89I	MLKL_ENST00000306247.7_Missense_Mutation_p.L89I	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.L89I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CTTGCTGTTAGAAACCTGCAG	0.478																																					p.L89I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265A	16						.						173.0	163.0	167.0					16																	74729391		2198	4300	6498	73286892	SO:0001583	missense	197259	exon2			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.265C>A	16.37:g.74729391G>T	ENSP00000308351:p.Leu89Ile		73286892	NM_152649		Missense_Mutation	SNP	ENST00000308807.7	37	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847641	0.32606	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.79554	-1.28;2.48	4.63	-0.0351	0.13894	.	0.826496	0.10758	N	0.637525	T	0.68302	0.2986	L	0.32530	0.975	0.09310	N	1	P;P	0.45715	0.865;0.835	B;B	0.43478	0.421;0.195	T	0.57579	-0.7787	10	0.38643	T	0.18	-0.077	3.4376	0.07452	0.0959:0.3296:0.4166:0.158	.	89;89	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	I	89	ENSP00000308351:L89I;ENSP00000303118:L89I	ENSP00000303118:L89I	L	-	1	2	MLKL	73286892	0.057000	0.20700	0.001000	0.08648	0.010000	0.07245	-0.176000	0.09811	-0.048000	0.13401	0.650000	0.86243	CTA		0.478	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	
LDHD	197257	broad.mit.edu	37	16	75148027	75148027	+	Silent	SNP	G	G	A	rs141944225	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:75148027G>A	ENST00000450168.2	-	6	716	c.666C>T	c.(664-666)ttC>ttT	p.F222F	LDHD_ENST00000300051.4_Silent_p.F245F	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.F245F(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CGGAGCCCACGAAGAGCCCCG	0.652													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16918	0.0		0.0	False		,,,				2504	0.0				p.F245F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C735T	16						.	G	,	15,4381	21.2+/-45.6	0,15,2183	80.0	80.0	80.0		735,666	1.1	1.0	16	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LDHD	NM_153486.3,NM_194436.2	,	0,15,6483	AA,AG,GG		0.0,0.3412,0.1154	,	245/508,222/485	75148027	15,12981	2198	4300	6498	73705528	SO:0001819	synonymous_variant	197257	exon6			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.666C>T	16.37:g.75148027G>A			73705528	NM_153486		Silent	SNP	ENST00000450168.2	37	CCDS45529.1																																																																																				0.652	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486	
CFDP1	10428	broad.mit.edu	37	16	75448521	75448521	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:75448521T>A	ENST00000283882.3	-	2	269	c.137A>T	c.(136-138)cAg>cTg	p.Q46L	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_Intron|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.Q103L	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	46	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)			p.Q46L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						TTGGGTTTTCTGTGTCTGCTC	0.453																																					p.Q46L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A137T	16						.						200.0	181.0	188.0					16																	75448521		2198	4300	6498	74006022	SO:0001583	missense	10428	exon2			AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.137A>T	16.37:g.75448521T>A	ENSP00000283882:p.Gln46Leu		74006022	NM_006324	O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	ENST00000283882.3	37	CCDS10916.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424165	0.62733	.	.	ENSG00000153774	ENST00000283882	T	0.45276	0.9	5.64	5.64	0.86602	.	0.524252	0.20948	N	0.082802	T	0.37489	0.1005	L	0.53249	1.67	0.26966	N	0.965694	B	0.26672	0.156	B	0.16722	0.016	T	0.24835	-1.0149	10	0.33141	T	0.24	-11.2314	12.2601	0.54645	0.0:0.0:0.0:1.0	.	46	Q9UEE9	CFDP1_HUMAN	L	46	ENSP00000283882:Q46L	ENSP00000283882:Q46L	Q	-	2	0	CFDP1	74006022	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.527000	0.45615	2.148000	0.66965	0.533000	0.62120	CAG		0.453	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324	
TMEM231	79583	broad.mit.edu	37	16	75574039	75574039	+	Silent	SNP	G	G	A	rs149118721	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:75574039G>A	ENST00000258173.6	-	7	880	c.804C>T	c.(802-804)ttC>ttT	p.F268F	RP11-77K12.8_ENST00000564489.1_RNA|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Silent_p.F220F|TMEM231_ENST00000568377.1_Silent_p.F297F|TMEM231_ENST00000569294.1_5'UTR	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	268					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.F297F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCACCCAGGCGAACTTTACCA	0.448													G|||	6	0.00119808	0.0045	0.0	5008	,	,		22688	0.0		0.0	False		,,,				2504	0.0				p.F297F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	16						.	G	,,	11,3859		0,11,1924	61.0	55.0	57.0		891,804,456	-5.9	1.0	16	dbSNP_134	57	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous,coding-synonymous	TMEM231	NM_001077416.1,NM_001077418.1,NM_001077419.1	,,	0,12,6054	AA,AG,GG		0.0121,0.2842,0.0989	,,	297/346,268/317,152/201	75574039	12,12120	1935	4131	6066	74131540	SO:0001819	synonymous_variant	79583	exon6				CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.804C>T	16.37:g.75574039G>A			74131540	NM_001077416	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Silent	SNP	ENST00000258173.6	37	CCDS45530.1																																																																																				0.448	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	NM_001077416	
CNTNAP4	85445	broad.mit.edu	37	16	76555988	76555988	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:76555988C>A	ENST00000476707.1	+	16	2737	c.2598C>A	c.(2596-2598)atC>atA	p.I866I	CNTNAP4_ENST00000307431.8_Silent_p.I862I|CNTNAP4_ENST00000478060.1_Silent_p.I790I|CNTNAP4_ENST00000377504.4_Silent_p.I814I|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	863	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.I862I(1)|p.I790I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTTTGAAATCTCAGTGCAGT	0.468																																					p.S863Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2588A	16						.						191.0	186.0	187.0					16																	76555988		2007	4207	6214	75113489	SO:0001819	synonymous_variant	85445	exon17			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2598C>A	16.37:g.76555988C>A			75113489	NM_033401	E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37																																																																																					0.468	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
CNTNAP4	85445	broad.mit.edu	37	16	76556132	76556132	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:76556132G>T	ENST00000476707.1	+	16	2881	c.2742G>T	c.(2740-2742)caG>caT	p.Q914H	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.Q910H|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q838H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q862H|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	911	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.Q910H(1)|p.Q838H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCCTGTTACAGCTCAACAGTC	0.448																																					p.S911I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2732T	16						.						65.0	67.0	66.0					16																	76556132		2003	4197	6200	75113633	SO:0001583	missense	85445	exon17			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2742G>T	16.37:g.76556132G>T	ENSP00000417628:p.Gln914His		75113633	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	17.22	3.334220	0.60853	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.87	3.91	0.45181	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.39544	N	0.001326	T	0.58278	0.2111	.	.	.	0.46499	D	0.999071	P;P;D	0.89917	0.732;0.932;1.0	P;P;D	0.79108	0.856;0.695;0.992	T	0.58132	-0.7690	9	0.45353	T	0.12	.	8.2984	0.31999	0.2253:0.0:0.7747:0.0	.	838;914;911	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	H	910;862;838;914	ENSP00000306893:Q910H;ENSP00000439733:Q862H;ENSP00000418741:Q838H;ENSP00000417628:Q914H	ENSP00000306893:Q910H	Q	+	3	2	CNTNAP4	75113633	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.204000	0.51082	1.410000	0.46936	-0.136000	0.14681	CAG		0.448	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
NUDT7	283927	broad.mit.edu	37	16	77775652	77775652	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:77775652C>A	ENST00000268533.5	+	4	591	c.522C>A	c.(520-522)atC>atA	p.I174I	NUDT7_ENST00000437314.3_Silent_p.I121I|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	174					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.I174I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTAATCATATCTTTGAGTACA	0.443																																					p.I174I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522A	16						.						102.0	95.0	97.0					16																	77775652		1930	4144	6074	76333153	SO:0001819	synonymous_variant	283927	exon4			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.522C>A	16.37:g.77775652C>A			76333153	NM_001105663	B4DLE5|H3BUB8	Silent	SNP	ENST00000268533.5	37	CCDS42195.1																																																																																				0.443	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1		
VAT1L	57687	broad.mit.edu	37	16	77859262	77859262	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:77859262C>T	ENST00000302536.2	+	3	636	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	161							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.F161F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTGCTGCATTCCCCATGAACT	0.537																																					p.F161F												.	.	2	Substitution - coding silent(2)	urinary_tract(1)|large_intestine(1)	c.C483T	16						.						124.0	98.0	107.0					16																	77859262		2198	4300	6498	76416763	SO:0001819	synonymous_variant	57687	exon3			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.483C>T	16.37:g.77859262C>T			76416763	NM_020927	Q8IYW8	Silent	SNP	ENST00000302536.2	37	CCDS32492.1																																																																																				0.537	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
RBFOX1	54715	broad.mit.edu	37	16	7743326	7743326	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:7743326C>T	ENST00000550418.1	+	15	1983				RBFOX1_ENST00000355637.4_Silent_p.F356F|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547372.1_Silent_p.F378F|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Silent_p.F292F|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000552089.1_Silent_p.F352F|RBFOX1_ENST00000311745.5_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.F356F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GAAATCAGTTCGTCTTCGTTG	0.433																																					p.F356F	Ovarian(157;934 2567 15163 39509)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1068T	16						.						160.0	141.0	147.0					16																	7743326		2197	4300	6497	7683327	SO:0001627	intron_variant	54715	exon12			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.996-15732C>T	16.37:g.7743326C>T			7683327	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Intron	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.433	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
VAT1L	57687	broad.mit.edu	37	16	78005801	78005801	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:78005801C>A	ENST00000302536.2	+	8	1285	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	378							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.L378M(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAAGTTAATTCTGGATGTAGA	0.522											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L378M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1132A	16						.						205.0	211.0	209.0					16																	78005801		2198	4300	6498	76563302	SO:0001583	missense	57687	exon8			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1132C>A	16.37:g.78005801C>A	ENSP00000303129:p.Leu378Met	1180	76563302	NM_020927	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488056	0.84854	.	.	ENSG00000171724	ENST00000302536	T	0.12984	2.63	5.44	4.47	0.54385	.	0.131843	0.52532	D	0.000064	T	0.42223	0.1193	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.45011	-0.9290	10	0.66056	D	0.02	-0.4033	14.9144	0.70785	0.0:0.9263:0.0:0.0737	.	378	Q9HCJ6	VAT1L_HUMAN	M	378	ENSP00000303129:L378M	ENSP00000303129:L378M	L	+	1	2	VAT1L	76563302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.557000	0.67313	2.724000	0.93272	0.462000	0.41574	CTG		0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
WWOX	51741	broad.mit.edu	37	16	78312539	78312539	+	Intron	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:78312539A>C	ENST00000566780.1	+	6	882				WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Intron|WWOX_ENST00000355860.3_Missense_Mutation_p.K186Q|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase						cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.K186Q(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GTGCAGAATAAAAATTTTCCA	0.318																																					p.K186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A556C	16						.						33.0	30.0	31.0					16																	78312539		1805	4061	5866	76870040	SO:0001627	intron_variant	51741	exon6			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.517-108218A>C	16.37:g.78312539A>C			76870040	NM_130791	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Intron	SNP	ENST00000566780.1	37	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160354	0.57368	.	.	ENSG00000186153	ENST00000355860	T	0.80909	-1.43	5.02	5.02	0.67125	.	.	.	.	.	T	0.75817	0.3901	.	.	.	0.46774	D	0.999193	B	0.19445	0.036	B	0.25291	0.059	T	0.74659	-0.3591	8	0.87932	D	0	.	11.7033	0.51583	1.0:0.0:0.0:0.0	.	186	Q9NZC7-3	.	Q	186	ENSP00000348119:K186Q	ENSP00000348119:K186Q	K	+	1	0	WWOX	76870040	0.027000	0.19231	0.007000	0.13788	0.088000	0.18126	1.677000	0.37576	2.193000	0.70182	0.533000	0.62120	AAA		0.318	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
DYNLRB2	83657	broad.mit.edu	37	16	80577224	80577224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:80577224G>T	ENST00000305904.6	+	2	175	c.55G>T	c.(55-57)Gga>Tga	p.G19*	RP11-525K10.3_ENST00000568552.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000563267.1_RNA|RP11-525K10.3_ENST00000565050.1_RNA|DYNLRB2_ENST00000568035.1_Nonsense_Mutation_p.G19*|DYNLRB2_ENST00000562982.1_Nonsense_Mutation_p.G48*|RP11-525K10.3_ENST00000564411.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	19					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.G19*(1)		large_intestine(1)|lung(4)|prostate(1)	6						AGGGGTTATTGGAACTATGGT	0.438																																					p.G19X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G55T	16						.						146.0	143.0	144.0					16																	80577224		2203	4300	6503	79134725	SO:0001587	stop_gained	83657	exon2			AF125108	CCDS10929.1	16q23.3	2008-02-05	2005-11-25	2005-11-25	ENSG00000168589	ENSG00000168589		"""Cytoplasmic dyneins"""	15467	protein-coding gene	gene with protein product	"""roadblock domain containing 2"""	607168	"""dynein, cytoplasmic, light polypeptide 2B"""	DNCL2B		11750132, 16260502	Standard	NM_130897		Approved	DNLC2B, ROBLD2	uc002ffo.3	Q8TF09	OTTHUMG00000137622	ENST00000305904.6:c.55G>T	16.37:g.80577224G>T	ENSP00000302936:p.Gly19*		79134725	NM_130897		Nonsense_Mutation	SNP	ENST00000305904.6	37	CCDS10929.1	.	.	.	.	.	.	.	.	.	.	G	37	6.371925	0.97515	.	.	ENSG00000168589	ENST00000305904;ENST00000338542	.	.	.	5.85	5.85	0.93711	.	0.064446	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.4154	18.7169	0.91679	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000302936:G19X	G	+	1	0	DYNLRB2	79134725	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.321000	0.96353	2.767000	0.95098	0.655000	0.94253	GGA		0.438	DYNLRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269043.1	NM_130897	
CDYL2	124359	broad.mit.edu	37	16	80718994	80718994	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:80718994C>A	ENST00000570137.2	-	2	212	c.57G>T	c.(55-57)aaG>aaT	p.K19N	CDYL2_ENST00000563890.1_Missense_Mutation_p.K19N|CDYL2_ENST00000566173.1_Missense_Mutation_p.K19N|CDYL2_ENST00000562812.1_Missense_Mutation_p.K19N|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	19	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.					nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.K19N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTTTCCTTTCTTGTTCTTCC	0.488																																					p.K19N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G57T	16						.						127.0	109.0	115.0					16																	80718994		2203	4299	6502	79276495	SO:0001583	missense	124359	exon2			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.57G>T	16.37:g.80718994C>A	ENSP00000476295:p.Lys19Asn		79276495	NM_152342	Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359127	0.82353	.	.	ENSG00000166446	ENST00000299564	T	0.76316	-1.01	5.08	5.08	0.68730	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.159946	0.56097	N	0.000036	T	0.82254	0.4997	L	0.52011	1.625	0.49915	D	0.999833	D	0.54397	0.966	P	0.62089	0.898	T	0.83275	-0.0041	10	0.87932	D	0	.	11.1187	0.48275	0.0:0.9168:0.0:0.0832	.	19	Q8N8U2	CDYL2_HUMAN	N	19	ENSP00000299564:K19N	ENSP00000299564:K19N	K	-	3	2	CDYL2	79276495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.406000	0.34646	2.636000	0.89361	0.655000	0.94253	AAG		0.488	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
CENPN	55839	broad.mit.edu	37	16	81053751	81053751	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81053751G>A	ENST00000305850.5	+	6	1191	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Missense_Mutation_p.R114Q|CENPN_ENST00000428963.2_Missense_Mutation_p.R134Q|CENPN_ENST00000393335.3_Missense_Mutation_p.R134Q|CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000299572.5_Missense_Mutation_p.R134Q|RP11-303E16.3_ENST00000562315.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	134					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R114Q(1)|p.R134Q(1)		breast(1)|large_intestine(5)|lung(4)	10						GTCTGGATTCGAATTGCCTGG	0.433																																					p.R134Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G401A	16						.						129.0	100.0	110.0					16																	81053751		2202	4300	6502	79611252	SO:0001583	missense	55839	exon6			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.401G>A	16.37:g.81053751G>A	ENSP00000305608:p.Arg134Gln		79611252	NM_018455	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636819	0.87760	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88164	0.6363	M	0.75264	2.295	0.54753	D	0.999981	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.57720	0.812;0.826;0.826;0.826;0.733	D	0.87992	0.2750	10	0.51188	T	0.08	-12.6125	19.7192	0.96135	0.0:0.0:1.0:0.0	.	114;134;134;134;134	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	Q	134;134;114;134;134	ENSP00000305608:R134Q;ENSP00000299572:R134Q;ENSP00000395235:R114Q;ENSP00000377007:R134Q;ENSP00000393991:R134Q	ENSP00000299572:R134Q	R	+	2	0	CENPN	79611252	1.000000	0.71417	0.995000	0.50966	0.338000	0.28826	6.671000	0.74472	2.656000	0.90262	0.655000	0.94253	CGA		0.433	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455	
ATMIN	23300	broad.mit.edu	37	16	81077783	81077783	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81077783G>T	ENST00000299575.4	+	4	1704	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	ATMIN_ENST00000564241.1_Missense_Mutation_p.E404D|ATMIN_ENST00000566488.1_Missense_Mutation_p.E404D|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	560					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.E560D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGATATTGAGAAATCTGCAC	0.338																																					p.E560D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1680T	16						.						42.0	42.0	42.0					16																	81077783		2202	4299	6501	79635284	SO:0001583	missense	23300	exon4			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1680G>T	16.37:g.81077783G>T	ENSP00000299575:p.Glu560Asp		79635284	NM_015251	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	9.397	1.076899	0.20227	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.31247	1.5	6.17	1.57	0.23409	.	0.251483	0.34932	N	0.003572	T	0.20251	0.0487	L	0.46741	1.465	0.30281	N	0.791287	B	0.17852	0.024	B	0.10450	0.005	T	0.20806	-1.0264	10	0.12766	T	0.61	-17.1769	6.0699	0.19883	0.3166:0.0:0.5556:0.1279	.	560	O43313	ATMIN_HUMAN	D	560;331	ENSP00000299575:E560D	ENSP00000299575:E560D	E	+	3	2	ATMIN	79635284	0.893000	0.30496	0.988000	0.46212	0.838000	0.47535	-0.083000	0.11286	0.480000	0.27534	0.655000	0.94253	GAG		0.338	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
ATMIN	23300	broad.mit.edu	37	16	81078236	81078236	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81078236C>A	ENST00000299575.4	+	4	2157	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L	ATMIN_ENST00000564241.1_Missense_Mutation_p.F555L|ATMIN_ENST00000566488.1_Missense_Mutation_p.F555L|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	711					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.F711L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TAAACTTTTTCTTAGACAGTA	0.453																																					p.F711L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2133A	16						.						125.0	131.0	129.0					16																	81078236		2202	4300	6502	79635737	SO:0001583	missense	23300	exon4			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2133C>A	16.37:g.81078236C>A	ENSP00000299575:p.Phe711Leu		79635737	NM_015251	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851654	0.32699	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.28255	1.62	6.02	-3.0	0.05480	.	0.051357	0.85682	D	0.000000	T	0.25901	0.0631	L	0.58101	1.795	0.41837	D	0.990104	B	0.27765	0.188	B	0.24974	0.057	T	0.10894	-1.0610	10	0.32370	T	0.25	-13.6138	13.9083	0.63850	0.0:0.5654:0.0:0.4346	.	711	O43313	ATMIN_HUMAN	L	711;482	ENSP00000299575:F711L	ENSP00000299575:F711L	F	+	3	2	ATMIN	79635737	0.053000	0.20554	0.948000	0.38648	0.977000	0.68977	-0.866000	0.04245	-0.401000	0.07644	-0.345000	0.07892	TTC		0.453	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
ATMIN	23300	broad.mit.edu	37	16	81078453	81078453	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81078453G>A	ENST00000299575.4	+	4	2374	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	ATMIN_ENST00000564241.1_Missense_Mutation_p.E628K|ATMIN_ENST00000566488.1_Missense_Mutation_p.E628K|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	784					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.E784K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CACCAGCAACGAAACTCAGAC	0.478																																					p.E784K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2350A	16						.						79.0	78.0	78.0					16																	81078453		2202	4300	6502	79635954	SO:0001583	missense	23300	exon4			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.2350G>A	16.37:g.81078453G>A	ENSP00000299575:p.Glu784Lys		79635954	NM_015251	A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450742	0.96205	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.42513	0.97	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70769	-0.4782	10	0.87932	D	0	-25.4572	19.9598	0.97242	0.0:0.0:1.0:0.0	.	784	O43313	ATMIN_HUMAN	K	784;555	ENSP00000299575:E784K	ENSP00000299575:E784K	E	+	1	0	ATMIN	79635954	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.742000	0.98846	2.716000	0.92895	0.655000	0.94253	GAA		0.478	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
PKD1L2	114780	broad.mit.edu	37	16	81180945	81180945	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81180945C>A	ENST00000525539.1	-	0	5145				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.E1716*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACAGGGTCCTCTCTCTTTTTG	0.507																																					p.E1716X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5146T	16						.						175.0	179.0	178.0					16																	81180945		1926	4121	6047	79738446			114780	exon30			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81180945C>A			79738446	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.507	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
PKD1L2	114780	broad.mit.edu	37	16	81209291	81209291	+	RNA	SNP	C	C	A	rs377130552		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81209291C>A	ENST00000527937.1	-	0	383				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.E834D(2)|p.E149D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGTCATTGTTCTCCTCTCCAA	0.552																																					p.E834D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2502T	16						.						108.0	108.0	108.0					16																	81209291		2058	4204	6262	79766792			114780	exon15			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209291C>A			79766792	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.65|15.65	2.895423|2.895423	0.52121|0.52121	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937|ENST00000526632	T;T;T|.	0.28454|.	1.61;1.61;1.61|.	4.82|4.82	-0.0387|-0.0387	0.13878|0.13878	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.353856|0.353856	0.28583|0.28583	N|N	0.014833|0.014833	T|.	0.15955|.	0.0384|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999991|0.999991	B;P;P|.	0.50272|.	0.053;0.933;0.912|.	B;P;P|.	0.48982|.	0.046;0.597;0.596|.	T|.	0.22556|.	-1.0213|.	9|.	0.54805|0.12766	T|T	0.06|0.61	-3.7447|-3.7447	4.4919|4.4919	0.11817|0.11817	0.0:0.3961:0.1894:0.4145|0.0:0.3961:0.1894:0.4145	.|.	90;834;834|.	Q7Z442-6;Q7Z442-3;Q7Z442|.	.;.;PK1L2_HUMAN|.	D|X	149;834;90|362	ENSP00000436309:E149D;ENSP00000337397:E834D;ENSP00000432818:E90D|.	ENSP00000337397:E834D|ENSP00000436389:E362X	E|E	-|-	3|1	2|0	PKD1L2|PKD1L2	79766792|79766792	0.998000|0.998000	0.40836|0.40836	0.840000|0.840000	0.33206|0.33206	0.772000|0.772000	0.43724|0.43724	0.919000|0.919000	0.28692|0.28692	-0.058000|-0.058000	0.13177|0.13177	-0.391000|-0.391000	0.06502|0.06502	GAG|GAA		0.552	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1		
PKD1L2	114780	broad.mit.edu	37	16	81211489	81211489	+	RNA	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81211489A>G	ENST00000527937.1	-	0	319				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V787A(2)|p.V102A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTCGTCAGAACGGTGCCCTC	0.597																																					p.V787A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T2360C	16						.						82.0	84.0	84.0					16																	81211489		2046	4189	6235	79768990			114780	exon14			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81211489A>G			79768990	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37		.	.	.	.	.	.	.	.	.	.	A	10.51	1.369740	0.24771	.	.	ENSG00000166473	ENST00000531391;ENST00000337114	T;T	0.68331	-0.32;-0.32	4.89	4.89	0.63831	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.518619	0.18782	N	0.131303	T	0.54549	0.1865	.	.	.	0.09310	N	1	P;B	0.41524	0.753;0.254	B;B	0.37091	0.241;0.146	T	0.50065	-0.8871	9	0.35671	T	0.21	-3.4902	12.1197	0.53885	1.0:0.0:0.0:0.0	.	787;787	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	102;787	ENSP00000436309:V102A;ENSP00000337397:V787A	ENSP00000337397:V787A	V	-	2	0	PKD1L2	79768990	0.083000	0.21467	0.042000	0.18584	0.052000	0.14988	4.659000	0.61504	1.858000	0.53909	0.449000	0.29647	GTT		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1		
PKD1L2	114780	broad.mit.edu	37	16	81222591	81222591	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81222591C>T	ENST00000525539.1	-	0	1683				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.D562N(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCTCCATATCGCCTTTATCT	0.512																																					p.D562N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1684A	16						.						135.0	132.0	133.0					16																	81222591		1977	4161	6138	79780092			114780	exon10			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81222591C>T			79780092	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.423|6.423	0.446249|0.446249	0.12164|0.12164	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.01252|.	5.1|.	4.97|4.97	-9.95|-9.95	0.00446|0.00446	Egg jelly receptor, REJ-like (1);|.	2.070470|.	0.02116|.	N|.	0.055189|.	T|T	0.15176|0.15176	0.0366|0.0366	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;B|.	0.40250|.	0.709;0.005|.	B;B|.	0.30251|.	0.113;0.002|.	T|T	0.13019|0.13019	-1.0525|-1.0525	9|4	0.44086|.	T|.	0.13|.	0.8558|0.8558	2.6334|2.6334	0.04951|0.04951	0.1934:0.1039:0.1937:0.509|0.1934:0.1039:0.1937:0.509	.|.	562;562|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	N|Q	562|89	ENSP00000337397:D562N|.	ENSP00000337397:D562N|.	D|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79780092|79780092	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.399000|-1.399000	0.02506|0.02506	-2.129000|-2.129000	0.00817|0.00817	-1.527000|-1.527000	0.00925|0.00925	GAT|CGA		0.512	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
PKD1L2	114780	broad.mit.edu	37	16	81232498	81232498	+	RNA	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81232498T>G	ENST00000525539.1	-	0	1311				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.I438L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCTGGAGATTGTAGAGGTG	0.557																																					p.I438L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1312C	16						.						187.0	189.0	188.0					16																	81232498		1978	4140	6118	79789999			114780	exon7			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81232498T>G			79789999	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37		.	.	.	.	.	.	.	.	.	.	T	0.264	-0.997761	0.02145	.	.	ENSG00000166473	ENST00000337114	T	0.01209	5.17	4.98	1.76	0.24704	Egg jelly receptor, REJ-like (1);	1.471950	0.03845	N	0.271320	T	0.00815	0.0027	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46091	-0.9216	9	0.11794	T	0.64	-0.3769	4.4296	0.11520	0.0776:0.1142:0.44:0.3682	.	438;438	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	438	ENSP00000337397:I438L	ENSP00000337397:I438L	I	-	1	0	PKD1L2	79789999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.259000	0.18405	0.523000	0.28482	-0.264000	0.10439	ATC		0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
GAN	8139	broad.mit.edu	37	16	81388123	81388123	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81388123G>A	ENST00000568107.2	+	3	558	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	132					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E132E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TTGCTGCTGAGAACTGTATTG	0.473																																					p.E132E	GBM(106;1239 1507 7582 9741 33976)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	16						.						231.0	208.0	216.0					16																	81388123		2202	4300	6502	79945624	SO:0001819	synonymous_variant	8139	exon3			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.396G>A	16.37:g.81388123G>A			79945624	NM_022041		Silent	SNP	ENST00000568107.2	37	CCDS10935.1																																																																																				0.473	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
GAN	8139	broad.mit.edu	37	16	81388328	81388328	+	Nonsense_Mutation	SNP	C	C	T	rs119485090		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81388328C>T	ENST00000568107.2	+	3	763	c.601C>T	c.(601-603)Cga>Tga	p.R201*		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	201	BACK.				cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R201*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGCAGTAATTCGATGGATAGC	0.313																																					p.R201X	GBM(106;1239 1507 7582 9741 33976)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C601T	16	GRCh37	CM020938	GAN	M	rs119485090	.						63.0	62.0	62.0					16																	81388328		2202	4300	6502	79945829	SO:0001587	stop_gained	8139	exon3			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.601C>T	16.37:g.81388328C>T	ENSP00000476795:p.Arg201*		79945829	NM_022041		Nonsense_Mutation	SNP	ENST00000568107.2	37	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	39	7.290336	0.98189	.	.	ENSG00000127688	ENST00000248272	.	.	.	5.8	5.8	0.92144	.	0.054743	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	15.7284	0.77780	0.1447:0.8552:0.0:0.0	.	.	.	.	X	201	.	ENSP00000248272:R201X	R	+	1	2	GAN	79945829	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.643000	0.54374	2.751000	0.94390	0.650000	0.86243	CGA		0.313	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
GAN	8139	broad.mit.edu	37	16	81391484	81391484	+	Silent	SNP	C	C	T	rs368910322		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81391484C>T	ENST00000568107.2	+	5	1083	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	307					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I307I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGCTTTGGATCGAACTGGCCC	0.458																																					p.I307I	GBM(106;1239 1507 7582 9741 33976)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	16						.						167.0	140.0	149.0					16																	81391484		2202	4300	6502	79948985	SO:0001819	synonymous_variant	8139	exon5			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.921C>T	16.37:g.81391484C>T			79948985	NM_022041		Silent	SNP	ENST00000568107.2	37	CCDS10935.1																																																																																				0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
CMIP	80790	broad.mit.edu	37	16	81735298	81735298	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81735298G>A	ENST00000537098.3	+	16	1861	c.1789G>A	c.(1789-1791)Gac>Aac	p.D597N	CMIP_ENST00000398040.4_Missense_Mutation_p.D444N|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.D503N	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	597						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D502N(1)		endometrium(5)|kidney(1)|lung(7)	13						CAACATCATCGACAACAACGA	0.577																																					p.D503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507A	16						.						218.0	228.0	225.0					16																	81735298		2166	4269	6435	80292799	SO:0001583	missense	80790	exon16			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1789G>A	16.37:g.81735298G>A	ENSP00000446100:p.Asp597Asn		80292799	NM_030629	Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556632	0.45487	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.08807	3.05;3.05	4.83	4.83	0.62350	.	0.052057	0.85682	D	0.000000	T	0.05318	0.0141	N	0.14661	0.345	0.51482	D	0.999928	P;P;B	0.46327	0.876;0.876;0.118	B;B;B	0.35859	0.117;0.212;0.015	T	0.50988	-0.8762	10	0.33141	T	0.24	.	16.1162	0.81306	0.0:0.0:1.0:0.0	.	444;503;597	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	N	597;503;503;410	ENSP00000446100:D597N;ENSP00000440401:D503N	ENSP00000381120:D503N	D	+	1	0	CMIP	80292799	1.000000	0.71417	0.999000	0.59377	0.249000	0.25844	9.821000	0.99360	2.233000	0.73108	0.313000	0.20887	GAC		0.577	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629	
PLCG2	5336	broad.mit.edu	37	16	81941355	81941355	+	Missense_Mutation	SNP	G	G	T	rs151013036	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81941355G>T	ENST00000359376.3	+	16	1747	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	511					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Q511H(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACATTGAACAGACTATGGAGG	0.572																																					p.Q511H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1533T	16						.						61.0	61.0	61.0					16																	81941355		1970	4167	6137	80498856	SO:0001583	missense	5336	exon16				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1533G>T	16.37:g.81941355G>T	ENSP00000352336:p.Gln511His		80498856	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039505	0.55003	.	.	ENSG00000197943	ENST00000359376	T	0.67523	-0.27	5.3	4.34	0.51931	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.188549	0.37955	N	0.001868	T	0.61763	0.2373	L	0.40543	1.245	0.58432	D	0.999998	B;D	0.62365	0.011;0.991	B;P	0.47744	0.014;0.556	T	0.62946	-0.6746	10	0.49607	T	0.09	.	10.873	0.46894	0.1507:0.0:0.8493:0.0	.	378;511	B4E3H3;P16885	.;PLCG2_HUMAN	H	511	ENSP00000352336:Q511H	ENSP00000352336:Q511H	Q	+	3	2	PLCG2	80498856	0.999000	0.42202	0.914000	0.36105	0.658000	0.38924	2.379000	0.44318	1.248000	0.43934	0.655000	0.94253	CAG		0.572	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLCG2	5336	broad.mit.edu	37	16	81942036	81942036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81942036G>T	ENST00000359376.3	+	17	1787	c.1573G>T	c.(1573-1575)Gaa>Taa	p.E525*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	525					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E525*(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACCCCCTACAGAACTACATTT	0.537																																					p.E525X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1573T	16						.						58.0	58.0	58.0					16																	81942036		1908	4119	6027	80499537	SO:0001587	stop_gained	5336	exon17				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1573G>T	16.37:g.81942036G>T	ENSP00000352336:p.Glu525*		80499537	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	40	7.998070	0.98602	.	.	ENSG00000197943	ENST00000359376	.	.	.	4.85	4.85	0.62838	.	0.265926	0.42294	D	0.000730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.982	0.89144	0.0:0.0:1.0:0.0	.	.	.	.	X	525	.	ENSP00000352336:E525X	E	+	1	0	PLCG2	80499537	1.000000	0.71417	0.993000	0.49108	0.676000	0.39594	9.261000	0.95576	2.249000	0.74217	0.655000	0.94253	GAA		0.537	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLCG2	5336	broad.mit.edu	37	16	81969848	81969848	+	Missense_Mutation	SNP	G	G	A	rs568724894		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:81969848G>A	ENST00000359376.3	+	27	3131	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	973	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D973N(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAGCCCGTCGACCTCCTGAA	0.527																																					p.D973N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2917A	16						.						73.0	76.0	75.0					16																	81969848		1954	4151	6105	80527349	SO:0001583	missense	5336	exon27				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2917G>A	16.37:g.81969848G>A	ENSP00000352336:p.Asp973Asn		80527349	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228364	0.39399	.	.	ENSG00000197943	ENST00000359376	T	0.54279	0.58	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.154254	0.56097	D	0.000024	T	0.44953	0.1318	L	0.35249	1.045	0.54753	D	0.999985	D	0.53885	0.963	B	0.43990	0.438	T	0.32025	-0.9922	10	0.15952	T	0.53	.	17.8393	0.88710	0.0:0.0:1.0:0.0	.	973	P16885	PLCG2_HUMAN	N	973	ENSP00000352336:D973N	ENSP00000352336:D973N	D	+	1	0	PLCG2	80527349	1.000000	0.71417	0.123000	0.21794	0.042000	0.13812	4.847000	0.62867	2.208000	0.71279	0.561000	0.74099	GAC		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
HSD17B2	3294	broad.mit.edu	37	16	82069065	82069065	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:82069065C>T	ENST00000199936.4	+	1	229	c.36C>T	c.(34-36)tgC>tgT	p.C12C		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	12					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.C12C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CATGGATCTGCCTGGCTGTCC	0.552																																					p.C12C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C36T	16						.						74.0	63.0	67.0					16																	82069065		2201	4300	6501	80626566	SO:0001819	synonymous_variant	3294	exon1				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.36C>T	16.37:g.82069065C>T			80626566	NM_002153	B2R7T4	Silent	SNP	ENST00000199936.4	37	CCDS10936.1																																																																																				0.552	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153	
HSD17B2	3294	broad.mit.edu	37	16	82069255	82069255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:82069255G>T	ENST00000199936.4	+	1	419	c.226G>T	c.(226-228)Gaa>Taa	p.E76*		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	76					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.E76*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ATCTGGCCAAGAATTGTTACC	0.488																																					p.E76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G226T	16						.						149.0	119.0	129.0					16																	82069255		2201	4300	6501	80626756	SO:0001587	stop_gained	3294	exon1				CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.226G>T	16.37:g.82069255G>T	ENSP00000199936:p.Glu76*		80626756	NM_002153	B2R7T4	Nonsense_Mutation	SNP	ENST00000199936.4	37	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.569049	0.97671	.	.	ENSG00000086696	ENST00000199936	.	.	.	5.31	4.36	0.52297	.	4.645640	0.00610	N	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	10.2035	0.43099	0.0926:0.0:0.9074:0.0	.	.	.	.	X	76	.	ENSP00000199936:E76X	E	+	1	0	HSD17B2	80626756	0.875000	0.30112	0.219000	0.23793	0.985000	0.73830	2.417000	0.44653	1.381000	0.46364	0.591000	0.81541	GAA		0.488	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153	
CDH13	1012	broad.mit.edu	37	16	83813768	83813768	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:83813768C>A	ENST00000566620.1	+	12	2167	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	CDH13_ENST00000268613.10_Missense_Mutation_p.A673D|CDH13_ENST00000428848.3_Missense_Mutation_p.A587D	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	626	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.A626D(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CACAAACAAGCTGTTCCTGAT	0.393																																					p.A626D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1877A	16						.						38.0	35.0	36.0					16																	83813768		1856	4102	5958	82371269	SO:0001583	missense	1012	exon12			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.1877C>A	16.37:g.83813768C>A	ENSP00000454435:p.Ala626Asp		82371269	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025343	0.35701	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.52526	0.66	5.52	4.55	0.56014	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40909	0.1136	L	0.39514	1.22	0.80722	D	1	B;B;P	0.38677	0.249;0.004;0.642	B;B;B	0.35770	0.21;0.027;0.131	T	0.42413	-0.9453	9	0.72032	D	0.01	.	15.3096	0.74019	0.0:0.8596:0.1404:0.0	.	587;673;626	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	D	673;626;587;328;185;316	ENSP00000268613:A673D	ENSP00000268613:A673D	A	+	2	0	CDH13	82371269	0.068000	0.21057	0.130000	0.21974	0.536000	0.34869	2.635000	0.46537	1.269000	0.44280	0.655000	0.94253	GCT		0.393	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
CDH13	1012	broad.mit.edu	37	16	83828630	83828630	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:83828630C>A	ENST00000566620.1	+	14	2427	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	RP11-483P21.2_ENST00000565714.1_RNA|RP11-483P21.3_ENST00000567109.1_lincRNA|RP11-483P21.2_ENST00000567342.1_RNA|CDH13_ENST00000268613.10_Missense_Mutation_p.L760M|CDH13_ENST00000428848.3_Missense_Mutation_p.L674M	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	713					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.L713M(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTATTCAGGTCTGTGAGAACT	0.383																																					p.L713M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2137A	16						.						87.0	77.0	80.0					16																	83828630		1842	4092	5934	82386131	SO:0001583	missense	1012	exon14			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.2137C>A	16.37:g.83828630C>A	ENSP00000454435:p.Leu713Met		82386131	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524311	0.44866	.	.	ENSG00000140945	ENST00000540531	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.67258	0.2874	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.994;0.996;0.994	T	0.69461	-0.5139	8	0.62326	D	0.03	.	18.885	0.92372	0.0:1.0:0.0:0.0	.	674;760;713	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	M	403	.	ENSP00000445918:L403M	L	+	1	2	CDH13	82386131	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.897000	0.63231	2.691000	0.91804	0.655000	0.94253	CTG		0.383	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
SLC38A8	146167	broad.mit.edu	37	16	84067037	84067037	+	Silent	SNP	C	C	T	rs201965163		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84067037C>T	ENST00000299709.3	-	3	425	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	142					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.P142P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCACGGCTGCGGGGCGGGCG	0.657																																					p.P142P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G426A	16						.						37.0	43.0	41.0					16																	84067037		2199	4299	6498	82624538	SO:0001819	synonymous_variant	146167	exon3				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.426G>A	16.37:g.84067037C>T			82624538	NM_001080442		Silent	SNP	ENST00000299709.3	37	CCDS32495.1																																																																																				0.657	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442	
MBTPS1	8720	broad.mit.edu	37	16	84103570	84103570	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84103570C>T	ENST00000343411.3	-	14	2351	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	619					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.R619Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTCTTGCTTCGCGGGGGAGT	0.423																																					p.R619Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	16						.						145.0	152.0	150.0					16																	84103570		2200	4300	6500	82661071	SO:0001583	missense	8720	exon14			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1856G>A	16.37:g.84103570C>T	ENSP00000344223:p.Arg619Gln		82661071	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	36	5.817519	0.96982	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.23754	1.89	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63528	-0.6617	10	0.87932	D	0	-19.9132	19.8383	0.96670	0.0:1.0:0.0:0.0	.	619	Q14703	MBTP1_HUMAN	Q	619;64	ENSP00000344223:R619Q	ENSP00000344223:R619Q	R	-	2	0	MBTPS1	82661071	1.000000	0.71417	0.965000	0.40720	0.889000	0.51656	7.818000	0.86416	2.683000	0.91414	0.650000	0.86243	CGA		0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
MBTPS1	8720	broad.mit.edu	37	16	84132690	84132690	+	Missense_Mutation	SNP	C	C	T	rs148577579		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84132690C>T	ENST00000343411.3	-	3	884	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	130					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.R130Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGACTTTTCGTTGGGGCGT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.001				p.R130Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	16						.	C	GLN/ARG	0,4400		0,0,2200	172.0	162.0	165.0		389	5.6	1.0	16	dbSNP_134	165	10,8590	8.4+/-32.0	0,10,4290	yes	missense	MBTPS1	NM_003791.2	43	0,10,6490	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	130/1053	84132690	10,12990	2200	4300	6500	82690191	SO:0001583	missense	8720	exon3			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.389G>A	16.37:g.84132690C>T	ENSP00000344223:p.Arg130Gln		82690191	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144017	0.94603	0.0	0.001163	ENSG00000140943	ENST00000343411	T	0.43294	0.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.66939	2.045	0.80722	D	1	D	0.56035	0.974	B	0.38428	0.273	T	0.54529	-0.8280	10	0.62326	D	0.03	-29.8791	19.6277	0.95684	0.0:1.0:0.0:0.0	.	130	Q14703	MBTP1_HUMAN	Q	130	ENSP00000344223:R130Q	ENSP00000344223:R130Q	R	-	2	0	MBTPS1	82690191	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.668000	0.68074	2.648000	0.89879	0.650000	0.86243	CGA		0.413	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
MBTPS1	8720	broad.mit.edu	37	16	84135308	84135308	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84135308C>A	ENST00000343411.3	-	2	576	c.81G>T	c.(79-81)aaG>aaT	p.K27N		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	27					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.K27N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAAGATTTCTTTTCCAGTC	0.453																																					p.K27N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G81T	16						.						110.0	108.0	109.0					16																	84135308		2200	4300	6500	82692809	SO:0001583	missense	8720	exon2			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.81G>T	16.37:g.84135308C>A	ENSP00000344223:p.Lys27Asn		82692809	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512218	0.27036	.	.	ENSG00000140943	ENST00000343411	T	0.30448	1.53	6.17	2.78	0.32641	.	0.342284	0.33057	N	0.005328	T	0.11495	0.0280	N	0.03608	-0.345	0.21386	N	0.999702	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	10	0.14656	T	0.56	-13.7457	8.7011	0.34327	0.4887:0.331:0.1803:0.0	.	27	Q14703	MBTP1_HUMAN	N	27	ENSP00000344223:K27N	ENSP00000344223:K27N	K	-	3	2	MBTPS1	82692809	0.894000	0.30519	0.940000	0.37924	0.997000	0.91878	1.094000	0.30951	1.575000	0.49775	0.655000	0.94253	AAG		0.453	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
WFDC1	58189	broad.mit.edu	37	16	84358040	84358040	+	Missense_Mutation	SNP	G	G	A	rs370380475		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84358040G>A	ENST00000219454.5	+	5	904	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	WFDC1_ENST00000568638.1_Missense_Mutation_p.R193Q	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	193					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R193Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CGAATCCTACGACACAAACTT	0.358																																					p.R193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	16						.						105.0	103.0	104.0					16																	84358040		2200	4300	6500	82915541	SO:0001583	missense	58189	exon5			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.578G>A	16.37:g.84358040G>A	ENSP00000219454:p.Arg193Gln		82915541	NM_021197	D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405679	0.25378	.	.	ENSG00000103175	ENST00000219454	T	0.37752	1.18	4.55	3.59	0.41128	.	0.125962	0.50627	N	0.000102	T	0.26085	0.0636	L	0.34521	1.04	0.53005	D	0.999962	B	0.28470	0.213	B	0.15052	0.012	T	0.11717	-1.0576	10	0.72032	D	0.01	-2.5874	11.638	0.51215	0.0877:0.0:0.9123:0.0	.	193	Q9HC57	WFDC1_HUMAN	Q	193	ENSP00000219454:R193Q	ENSP00000219454:R193Q	R	+	2	0	WFDC1	82915541	0.264000	0.24093	0.018000	0.16275	0.018000	0.09664	1.376000	0.34306	1.266000	0.44231	0.650000	0.86243	CGA		0.358	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2		
TLDC1	57707	broad.mit.edu	37	16	84531579	84531579	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84531579C>T	ENST00000343629.6	-	2	296	c.114G>A	c.(112-114)ccG>ccA	p.P38P	TLDC1_ENST00000535580.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	38						lysosomal membrane (GO:0005765)		p.P38P(1)									ATGAGACATTCGGGCTGTTTT	0.478																																					p.P38P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G114A	16						.						173.0	167.0	169.0					16																	84531579		2199	4300	6499	83089080	SO:0001819	synonymous_variant	57707	exon2			AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.114G>A	16.37:g.84531579C>T			83089080	NM_020947	Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	CCDS32498.1																																																																																				0.478	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	
COTL1	23406	broad.mit.edu	37	16	84600556	84600556	+	Silent	SNP	G	G	A	rs577103781		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84600556G>A	ENST00000262428.4	-	4	486	c.324C>T	c.(322-324)ttC>ttT	p.F108F	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Silent_p.F39F	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	108	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)	p.F108F(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTCCTTAGCGAAATTCTGCA	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19671	0.0		0.0	False		,,,				2504	0.0				p.F108F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	16						.						80.0	79.0	79.0					16																	84600556		2199	4300	6499	83158057	SO:0001819	synonymous_variant	23406	exon4			L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.324C>T	16.37:g.84600556G>A			83158057	NM_021149	B2RDU3|D3DUL9|Q86XM5	Silent	SNP	ENST00000262428.4	37	CCDS10947.1																																																																																				0.512	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149	
USP10	9100	broad.mit.edu	37	16	84778270	84778270	+	Silent	SNP	C	C	T	rs537583328		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84778270C>T	ENST00000219473.7	+	4	296	c.183C>T	c.(181-183)gtC>gtT	p.V61V	USP10_ENST00000570191.1_Silent_p.V65V|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	61	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V61V(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGTTTGGTGTCGATGAAGTCA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		16222	0.0		0.001	False		,,,				2504	0.0				p.V61V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	16						.						49.0	46.0	47.0					16																	84778270		1849	4088	5937	83335771	SO:0001819	synonymous_variant	9100	exon4			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.183C>T	16.37:g.84778270C>T			83335771	NM_005153	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051753	0.36181	.	.	ENSG00000103194	ENST00000540269	.	.	.	5.06	-3.52	0.04682	.	.	.	.	.	T	0.46249	0.1383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50550	-0.8815	5	0.72032	D	0.01	-9.3282	0.9847	0.01443	0.138:0.239:0.2676:0.3554	.	.	.	.	L	41	.	ENSP00000445589:S41L	S	+	2	0	USP10	83335771	0.990000	0.36364	0.045000	0.18777	0.683000	0.39861	0.062000	0.14389	-1.144000	0.02862	-0.339000	0.08088	TCG		0.408	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
CRISPLD2	83716	broad.mit.edu	37	16	84900571	84900571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84900571G>T	ENST00000262424.5	+	7	1002	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	CRISPLD2_ENST00000567845.1_Nonsense_Mutation_p.E259*|CRISPLD2_ENST00000564567.1_Nonsense_Mutation_p.E260*	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	260					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.E260*(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CATTCCTGAAGAAAACCATGT	0.498																																					p.E260X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G778T	16						.						123.0	104.0	111.0					16																	84900571		2199	4300	6499	83458072	SO:0001587	stop_gained	83716	exon7			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.778G>T	16.37:g.84900571G>T	ENSP00000262424:p.Glu260*		83458072	NM_031476	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Nonsense_Mutation	SNP	ENST00000262424.5	37	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.409246	0.42715	.	.	ENSG00000103196	ENST00000262424	.	.	.	5.66	3.72	0.42706	.	0.638733	0.16615	N	0.206743	.	.	.	.	.	.	0.22240	N	0.999263	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.3	0.43646	0.1599:0.0:0.8401:0.0	.	.	.	.	X	260	.	ENSP00000262424:E260X	E	+	1	0	CRISPLD2	83458072	0.999000	0.42202	0.001000	0.08648	0.041000	0.13682	3.249000	0.51437	0.761000	0.33130	-0.136000	0.14681	GAA		0.498	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476	
CRISPLD2	83716	broad.mit.edu	37	16	84902504	84902504	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:84902504T>C	ENST00000262424.5	+	8	1125	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.S300P|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.S301P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	301	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.S301P(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GTGCAAAGGGTCCACGTGTAA	0.572																																					p.S301P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T901C	16						.						182.0	134.0	150.0					16																	84902504		2199	4300	6499	83460005	SO:0001583	missense	83716	exon8			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.901T>C	16.37:g.84902504T>C	ENSP00000262424:p.Ser301Pro		83460005	NM_031476	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688938	0.68271	.	.	ENSG00000103196	ENST00000262424	D	0.89617	-2.54	5.37	5.37	0.77165	LCCL (5);	0.212625	0.42964	D	0.000637	D	0.92721	0.7686	L	0.61387	1.9	0.80722	D	1	D;D;D	0.71674	0.998;0.991;0.997	D;P;D	0.69479	0.964;0.865;0.949	D	0.93225	0.6612	10	0.66056	D	0.02	.	13.323	0.60444	0.0:0.0:0.0:1.0	.	301;301;301	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	P	301	ENSP00000262424:S301P	ENSP00000262424:S301P	S	+	1	0	CRISPLD2	83460005	0.998000	0.40836	0.935000	0.37517	0.741000	0.42261	3.028000	0.49705	2.031000	0.59945	0.533000	0.62120	TCC		0.572	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476	
KIAA0513	9764	broad.mit.edu	37	16	85116194	85116194	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:85116194G>T	ENST00000566428.1	+	10	1636	c.1005G>T	c.(1003-1005)gaG>gaT	p.E335D	KIAA0513_ENST00000538274.1_Intron|KIAA0513_ENST00000258180.3_Missense_Mutation_p.E335D			O60268	K0513_HUMAN	KIAA0513	335						cytoplasm (GO:0005737)		p.E335D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGGAGGAGGAGAAGAGGTGTG	0.532																																					p.E335D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1005T	16						.						190.0	168.0	176.0					16																	85116194		2198	4300	6498	83673695	SO:0001583	missense	9764	exon10			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.1005G>T	16.37:g.85116194G>T	ENSP00000457408:p.Glu335Asp		83673695	NM_014732	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607239	0.28623	.	.	ENSG00000135709	ENST00000258180	T	0.46063	0.88	4.51	3.43	0.39272	.	0.277450	0.33382	N	0.004962	T	0.15176	0.0366	N	0.02011	-0.69	0.30950	N	0.724831	B	0.02656	0.0	B	0.08055	0.003	T	0.14699	-1.0463	10	0.13108	T	0.6	-15.8923	9.5479	0.39293	0.152:0.0:0.848:0.0	.	335	O60268	K0513_HUMAN	D	335	ENSP00000258180:E335D	ENSP00000258180:E335D	E	+	3	2	KIAA0513	83673695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.660000	0.25009	2.072000	0.62099	0.561000	0.74099	GAG		0.532	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732	
FAM92B	339145	broad.mit.edu	37	16	85132796	85132796	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:85132796G>T	ENST00000539556.1	-	9	1065	c.910C>A	c.(910-912)Ctc>Atc	p.L304I		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	304								p.L304I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CGTCGTTAGAGAGAATGTCCT	0.478																																					p.L304I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C910A	16						.						104.0	94.0	97.0					16																	85132796		2198	4300	6498	83690297	SO:0001583	missense	339145	exon8				CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.910C>A	16.37:g.85132796G>T	ENSP00000443411:p.Leu304Ile		83690297	NM_198491		Missense_Mutation	SNP	ENST00000539556.1	37	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	G	9.855	1.194802	0.22037	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.36520	1.25	1.06	1.06	0.20224	.	.	.	.	.	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	P	0.56216	0.794	T	0.10291	-1.0636	9	0.87932	D	0	.	5.458	0.16602	0.0:0.0:1.0:0.0	.	304	Q6ZTR7	FA92B_HUMAN	I	304	ENSP00000443411:L304I	ENSP00000376937:L304I	L	-	1	0	FAM92B	83690297	0.014000	0.17966	0.021000	0.16686	0.013000	0.08279	0.430000	0.21428	0.900000	0.36469	0.313000	0.20887	CTC		0.478	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	
GINS2	51659	broad.mit.edu	37	16	85715220	85715220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:85715220G>T	ENST00000253462.3	-	3	373	c.273C>A	c.(271-273)taC>taA	p.Y91*		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	91					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)		p.Y91*(1)		endometrium(2)|large_intestine(2)|lung(2)	6						GTTCCATGTAGTAAGGGCTGG	0.438																																					p.Y91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C273A	16						.						190.0	171.0	178.0					16																	85715220		2198	4300	6498	84272721	SO:0001587	stop_gained	51659	exon3			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.273C>A	16.37:g.85715220G>T	ENSP00000253462:p.Tyr91*		84272721	NM_016095	D3DUM5|Q6IAG9	Nonsense_Mutation	SNP	ENST00000253462.3	37	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059195	0.93846	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.98	0.77	0.18497	.	0.118916	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-16.5331	5.5596	0.17135	0.3732:0.132:0.4948:0.0	.	.	.	.	X	91	.	ENSP00000253462:Y91X	Y	-	3	2	GINS2	84272721	1.000000	0.71417	0.946000	0.38457	0.969000	0.65631	1.253000	0.32886	-0.067000	0.12976	0.561000	0.74099	TAC		0.438	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095	
FOXF1	2294	broad.mit.edu	37	16	86544587	86544587	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:86544587C>T	ENST00000262426.4	+	1	455	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	138					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)	p.R113W(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGGCTCCTTTCGGCGGCGGCC	0.647																																					p.R138W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C412T	16						.						53.0	67.0	62.0					16																	86544587		2197	4299	6496	85102088	SO:0001583	missense	2294	exon1			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.412C>T	16.37:g.86544587C>T	ENSP00000262426:p.Arg138Trp		85102088	NM_001451	B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763771	0.69878	.	.	ENSG00000103241	ENST00000262426	T	0.39787	1.06	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	T	0.68458	0.3003	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75199	-0.3402	10	0.87932	D	0	.	11.4517	0.50156	0.1801:0.8199:0.0:0.0	.	138	Q12946	FOXF1_HUMAN	W	138	ENSP00000262426:R138W	ENSP00000262426:R138W	R	+	1	2	FOXF1	85102088	0.953000	0.32496	0.992000	0.48379	0.805000	0.45488	2.134000	0.42102	2.052000	0.61016	0.650000	0.86243	CGG		0.647	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451	
MTHFSD	64779	broad.mit.edu	37	16	86582089	86582089	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:86582089C>A	ENST00000360900.6	-	4	357	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MTHFSD_ENST00000381214.5_Missense_Mutation_p.R111I|MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000568037.1_5'UTR|MTHFSD_ENST00000322911.6_Missense_Mutation_p.R110I|MTHFSD_ENST00000543303.2_Missense_Mutation_p.R110I	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	111							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R111I(1)|p.R110I(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GGCACATTTTCTCAAGATGTC	0.448																																					p.R110I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G329T	16						.						145.0	139.0	141.0					16																	86582089		1892	4110	6002	85139590	SO:0001583	missense	64779	exon4			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.332G>T	16.37:g.86582089C>A	ENSP00000354152:p.Arg111Ile		85139590	NM_022764	A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	ENST00000360900.6	37	CCDS54047.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178744	0.78564	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911	T;T;T	0.41758	0.99;0.99;0.99	5.3	5.3	0.74995	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.048670	0.85682	D	0.000000	T	0.68815	0.3042	M	0.83953	2.67	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.73726	-0.3892	10	0.72032	D	0.01	-6.8512	17.9576	0.89074	0.0:1.0:0.0:0.0	.	111;110;111;110	E9PAM1;B7ZLC0;Q2M296;Q2M296-2	.;.;MTHSD_HUMAN;.	I	109;111;111;110	ENSP00000370612:R111I;ENSP00000354152:R111I;ENSP00000326777:R110I	ENSP00000326777:R110I	R	-	2	0	MTHFSD	85139590	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	5.124000	0.64709	2.485000	0.83878	0.655000	0.94253	AGA		0.448	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764	
CA5A	763	broad.mit.edu	37	16	87936104	87936104	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:87936104G>T	ENST00000309893.2	-	4	547	c.482C>A	c.(481-483)tCt>tAt	p.S161Y		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	161					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.S161Y(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GTATTTCACAGAATTCCAGTG	0.408																																					p.S161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482A	16						.						56.0	53.0	54.0					16																	87936104		2198	4297	6495	86493605	SO:0001583	missense	763	exon4			L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.482C>A	16.37:g.87936104G>T	ENSP00000309649:p.Ser161Tyr		86493605	NM_001739	B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	g	14.73	2.621740	0.46840	.	.	ENSG00000174990	ENST00000309893	T	0.70399	-0.48	4.82	3.84	0.44239	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.332212	0.32328	N	0.006247	D	0.84656	0.5520	M	0.88450	2.955	0.09310	N	1	D	0.71674	0.998	D	0.72338	0.977	T	0.77397	-0.2603	10	0.87932	D	0	-3.7513	11.4998	0.50430	0.0:0.3506:0.6494:0.0	.	161	P35218	CAH5A_HUMAN	Y	161	ENSP00000309649:S161Y	ENSP00000309649:S161Y	S	-	2	0	CA5A	86493605	0.680000	0.27605	0.021000	0.16686	0.950000	0.60333	4.989000	0.63870	0.982000	0.38575	0.484000	0.47621	TCT		0.408	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739	
BANP	54971	broad.mit.edu	37	16	88014704	88014704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:88014704G>T	ENST00000393207.1	+	3	354	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	BANP_ENST00000393208.2_Nonsense_Mutation_p.E45*|BANP_ENST00000355163.5_Nonsense_Mutation_p.E51*|BANP_ENST00000479780.2_Nonsense_Mutation_p.E45*|BANP_ENST00000538234.1_Nonsense_Mutation_p.E45*|BANP_ENST00000355022.4_Nonsense_Mutation_p.E45*|BANP_ENST00000286122.7_Nonsense_Mutation_p.E45*	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	45					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E45*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCAGCGACTAGAAATCAATTG	0.393																																					p.E45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G133T	16						.						106.0	97.0	100.0					16																	88014704		2198	4300	6498	86572205	SO:0001587	stop_gained	54971	exon3			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.133G>T	16.37:g.88014704G>T	ENSP00000376902:p.Glu45*		86572205	NM_001173543	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Nonsense_Mutation	SNP	ENST00000393207.1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723635	0.89298	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000454563;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000436274;ENST00000456902;ENST00000393207	.	.	.	4.56	4.56	0.56223	.	0.230651	0.41194	D	0.000940	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.6775	0.85283	0.0:0.0:1.0:0.0	.	.	.	.	X	51;45;51;45;56;45;45;45;45;45;45;45;45;45;45	.	ENSP00000286122:E45X	E	+	1	0	BANP	86572205	1.000000	0.71417	0.973000	0.42090	0.403000	0.30841	6.927000	0.75840	2.255000	0.74692	0.455000	0.32223	GAA		0.393	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	
BANP	54971	broad.mit.edu	37	16	88066718	88066718	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:88066718C>T	ENST00000393207.1	+	9	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_ENST00000393208.2_Missense_Mutation_p.P317L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L|BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000538234.1_Missense_Mutation_p.P356L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652																																					p.P348L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1043T	16						.																																			86624219	SO:0001583	missense	54971	exon9			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1043C>T	16.37:g.88066718C>T	ENSP00000376902:p.Pro348Leu		86624219	NM_001173543	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	8.127	0.782177	0.16189	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	3.75	1.52	0.23074	.	0.536094	0.20729	N	0.086754	T	0.22085	0.0532	N	0.14661	0.345	0.31187	N	0.7014	B;B;B;B;B;B	0.26577	0.103;0.054;0.0;0.081;0.0;0.153	B;B;B;B;B;B	0.20767	0.011;0.014;0.0;0.014;0.0;0.031	T	0.17471	-1.0368	9	0.28530	T	0.3	.	9.594	0.39563	0.0:0.5132:0.4867:0.0	.	356;323;317;348;317;317	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	348;323;313;317;317;317;317;356;348	.	ENSP00000286122:P348L	P	+	2	0	BANP	86624219	0.997000	0.39634	0.997000	0.53966	0.169000	0.22640	1.442000	0.35046	0.883000	0.36040	0.305000	0.20034	CCG		0.652	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	
ZNF778	197320	broad.mit.edu	37	16	89294186	89294186	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:89294186G>T	ENST00000433976.2	+	6	1738	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.R427I	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R469I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GAGCACGCGAGAATCCATACC	0.498																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	16						.						74.0	77.0	76.0					16																	89294186		2186	4297	6483	87821687	SO:0001583	missense	197320	exon6			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1406G>T	16.37:g.89294186G>T	ENSP00000405289:p.Arg469Ile		87821687	NM_182531	Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806956	0.70797	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.24908	1.83;1.83	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46405	0.1391	M	0.77820	2.39	0.40603	D	0.981609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49133	-0.8971	9	0.62326	D	0.03	.	8.1979	0.31407	0.0:0.0:1.0:0.0	.	427;469	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	I	469;427	ENSP00000405289:R469I;ENSP00000305203:R427I	ENSP00000305203:R427I	R	+	2	0	ZNF778	87821687	0.000000	0.05858	0.213000	0.23690	0.318000	0.28184	0.597000	0.24059	0.927000	0.37143	0.558000	0.71614	AGA		0.498	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531	
ANKRD11	29123	broad.mit.edu	37	16	89341336	89341336	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:89341336C>A	ENST00000301030.4	-	11	8059	c.7599G>T	c.(7597-7599)gaG>gaT	p.E2533D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E2533D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2533					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E2533D(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCGCAGAATCTCCTGCTCAC	0.612																																					p.E2533D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7599T	16						.						57.0	54.0	55.0					16																	89341336		2198	4300	6498	87868837	SO:0001583	missense	29123	exon11			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7599G>T	16.37:g.89341336C>A	ENSP00000301030:p.Glu2533Asp		87868837	NM_013275	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802278	0.70682	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.54479	0.57;0.57	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	T	0.76435	0.3987	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.80415	-0.1392	10	0.72032	D	0.01	.	18.6113	0.91286	0.0:1.0:0.0:0.0	.	2533	Q6UB99	ANR11_HUMAN	D	2533	ENSP00000301030:E2533D;ENSP00000367581:E2533D	ENSP00000301030:E2533D	E	-	3	2	ANKRD11	87868837	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.083000	0.50136	2.569000	0.86673	0.655000	0.94253	GAG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
ANKRD11	29123	broad.mit.edu	37	16	89348605	89348605	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:89348605C>T	ENST00000301030.4	-	9	4805	c.4345G>A	c.(4345-4347)Gga>Aga	p.G1449R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1449R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1449	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1449R(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCACTAGATCCATAAGGCTTT	0.413																																					p.G1449R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4345A	16						.						112.0	91.0	98.0					16																	89348605		2198	4300	6498	87876106	SO:0001583	missense	29123	exon9			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4345G>A	16.37:g.89348605C>T	ENSP00000301030:p.Gly1449Arg		87876106	NM_013275	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049517	0.19827	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38077	1.16;1.16	5.11	5.11	0.69529	.	0.215320	0.32002	N	0.006730	T	0.36220	0.0959	L	0.54323	1.7	0.20196	N	0.999922	P	0.44877	0.845	P	0.45037	0.467	T	0.29518	-1.0009	10	0.33940	T	0.23	.	9.3991	0.38422	0.0:0.8382:0.0:0.1618	.	1449	Q6UB99	ANR11_HUMAN	R	1449	ENSP00000301030:G1449R;ENSP00000367581:G1449R	ENSP00000301030:G1449R	G	-	1	0	ANKRD11	87876106	0.000000	0.05858	0.146000	0.22360	0.011000	0.07611	0.486000	0.22340	2.530000	0.85305	0.563000	0.77884	GGA		0.413	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
ANKRD11	29123	broad.mit.edu	37	16	89348773	89348773	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:89348773C>T	ENST00000301030.4	-	9	4637	c.4177G>A	c.(4177-4179)Gaa>Aaa	p.E1393K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1393K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1393	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1393K(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGTCCTTTTCGTACTGGCCG	0.493																																					p.E1393K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4177A	16						.						117.0	107.0	111.0					16																	89348773		2198	4300	6498	87876274	SO:0001583	missense	29123	exon9			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4177G>A	16.37:g.89348773C>T	ENSP00000301030:p.Glu1393Lys		87876274	NM_013275	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867079	0.72065	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.52526	0.66;0.66	5.11	5.11	0.69529	.	0.265410	0.35870	N	0.002929	T	0.49012	0.1532	L	0.51422	1.61	0.80722	D	1	D	0.62365	0.991	P	0.44597	0.454	T	0.56529	-0.7964	10	0.72032	D	0.01	.	18.4974	0.90870	0.0:1.0:0.0:0.0	.	1393	Q6UB99	ANR11_HUMAN	K	1393	ENSP00000301030:E1393K;ENSP00000367581:E1393K	ENSP00000301030:E1393K	E	-	1	0	ANKRD11	87876274	1.000000	0.71417	0.500000	0.27589	0.067000	0.16453	7.189000	0.77747	2.530000	0.85305	0.563000	0.77884	GAA		0.493	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
FANCA	2175	broad.mit.edu	37	16	89882338	89882338	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:89882338A>G	ENST00000389301.3	-	2	166	c.136T>C	c.(136-138)Tca>Cca	p.S46P	FANCA_ENST00000389302.3_Missense_Mutation_p.S46P|FANCA_ENST00000568369.1_Missense_Mutation_p.S46P|FANCA_ENST00000563673.1_Missense_Mutation_p.S46P|FANCA_ENST00000543736.1_Missense_Mutation_p.S46P|FANCA_ENST00000534992.1_Missense_Mutation_p.S46P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	46					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S46P(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGCACAGCTGATTCCTTTAAT	0.507			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S46P		yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T136C	16						.						141.0	129.0	133.0					16																	89882338		2198	4300	6498	88409839	SO:0001583	missense	2175	exon2	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.136T>C	16.37:g.89882338A>G	ENSP00000373952:p.Ser46Pro		88409839	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648754	0.67358	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.47	2.05	0.26809	.	0.345964	0.20236	N	0.096391	T	0.56202	0.1969	M	0.62723	1.935	0.09310	N	1	P;D;D;D;D;P	0.61697	0.93;0.982;0.99;0.99;0.99;0.93	P;P;P;P;P;P	0.62382	0.462;0.802;0.901;0.901;0.901;0.462	T	0.51965	-0.8638	10	0.59425	D	0.04	-8.3811	12.6013	0.56499	0.2869:0.7131:0.0:0.0	.	46;46;46;46;46;46	B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;.;FANCA_HUMAN	P	46	ENSP00000373952:S46P;ENSP00000373953:S46P;ENSP00000443675:S46P;ENSP00000443409:S46P	ENSP00000373952:S46P	S	-	1	0	FANCA	88409839	0.057000	0.20700	0.002000	0.10522	0.092000	0.18411	0.595000	0.24029	0.062000	0.16340	0.525000	0.51046	TCA		0.507	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
USP7	7874	broad.mit.edu	37	16	9000373	9000373	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9000373T>C	ENST00000344836.4	-	13	1536	c.1338A>G	c.(1336-1338)gcA>gcG	p.A446A	USP7_ENST00000381886.4_Silent_p.A430A|USP7_ENST00000535863.1_Silent_p.A347A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	446	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.A446A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GAATATAATTTGCAGGGTCCT	0.363																																					p.A446A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1338G	16						.						92.0	92.0	92.0					16																	9000373		2197	4300	6497	8907874	SO:0001819	synonymous_variant	7874	exon13			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1338A>G	16.37:g.9000373T>C			8907874	NM_003470	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
USP7	7874	broad.mit.edu	37	16	9015052	9015052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9015052C>A	ENST00000344836.4	-	4	682	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	USP7_ENST00000381886.4_Nonsense_Mutation_p.E146*|USP7_ENST00000535863.1_Nonsense_Mutation_p.E63*|USP7_ENST00000566224.1_5'Flank	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	162	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E162*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CAATCATTTTCTTTATGGAAG	0.373																																					p.E162X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G484T	16						.						78.0	73.0	75.0					16																	9015052		2197	4300	6497	8922553	SO:0001587	stop_gained	7874	exon4			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.484G>T	16.37:g.9015052C>A	ENSP00000343535:p.Glu162*		8922553	NM_003470	A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	36	5.927121	0.97110	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	.	.	.	5.47	5.47	0.80525	.	0.042931	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7874	0.96444	0.0:1.0:0.0:0.0	.	.	.	.	X	162;170;63;63;104	.	ENSP00000343535:E162X	E	-	1	0	USP7	8922553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.779000	0.68948	2.761000	0.94854	0.552000	0.68991	GAA		0.373	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
GRIN2A	2903	broad.mit.edu	37	16	9857197	9857197	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9857197G>A	ENST00000396573.2	-	14	4513	c.4204C>T	c.(4204-4206)Cgg>Tgg	p.R1402W	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1402W|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1402W|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1402					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1402W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGGACGACCGAAGATAGCTG	0.522																																					p.R1402W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4204T	16						.						118.0	102.0	107.0					16																	9857197		2197	4300	6497	9764698	SO:0001583	missense	2903	exon14				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4204C>T	16.37:g.9857197G>A	ENSP00000379818:p.Arg1402Trp		9764698	NM_000833	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193835	0.58017	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.13538	2.58;2.58;2.58	5.79	4.76	0.60689	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.109289	0.56097	D	0.000025	T	0.30792	0.0776	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	P	0.59643	0.861	T	0.00697	-1.1605	9	.	.	.	.	13.3416	0.60549	0.0:0.0:0.7547:0.2453	.	1402	Q12879	NMDE1_HUMAN	W	1402	ENSP00000379818:R1402W;ENSP00000332549:R1402W;ENSP00000379820:R1402W	.	R	-	1	2	GRIN2A	9764698	1.000000	0.71417	0.847000	0.33407	0.965000	0.64279	3.029000	0.49712	2.733000	0.93635	0.655000	0.94253	CGG		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9858098	9858098	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9858098G>A	ENST00000396573.2	-	14	3612	c.3303C>T	c.(3301-3303)gtC>gtT	p.V1101V	GRIN2A_ENST00000330684.3_Silent_p.V1101V|GRIN2A_ENST00000404927.2_Silent_p.V1101V|GRIN2A_ENST00000562109.1_Silent_p.V1101V|GRIN2A_ENST00000396575.2_Silent_p.V1101V|GRIN2A_ENST00000535259.1_Silent_p.V944V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1101					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V1101V(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGTGCGCTCGACCTCACTAC	0.493																																					p.V1101V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3303T	16						.						155.0	144.0	148.0					16																	9858098		2197	4300	6497	9765599	SO:0001819	synonymous_variant	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3303C>T	16.37:g.9858098G>A			9765599	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9858394	9858394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9858394C>A	ENST00000396573.2	-	14	3316	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1003*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1003*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1003*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1003*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E846*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1003					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1003*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTTGGATTCTGTGCTCACG	0.512																																					p.E1003X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3007T	16						.						96.0	93.0	94.0					16																	9858394		2197	4300	6497	9765895	SO:0001587	stop_gained	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3007G>T	16.37:g.9858394C>A	ENSP00000379818:p.Glu1003*		9765895	NM_001134408	O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	39	7.555392	0.98355	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.33	5.33	0.75918	.	0.267510	0.42682	D	0.000677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	.	.	.	X	1003;1003;846;1003;1003	.	.	E	-	1	0	GRIN2A	9765895	1.000000	0.71417	0.943000	0.38184	0.948000	0.59901	5.474000	0.66781	2.491000	0.84063	0.655000	0.94253	GAA		0.512	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9916248	9916248	+	Nonsense_Mutation	SNP	G	G	A	rs397518472		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9916248G>A	ENST00000396573.2	-	11	2350	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.R681*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.R524*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	681					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R681*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCCAAATCGAAAAGGTGGG	0.448																																					p.R681X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2041T	16						.						106.0	91.0	96.0					16																	9916248		2197	4300	6497	9823749	SO:0001587	stop_gained	2903	exon10				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2041C>T	16.37:g.9916248G>A	ENSP00000379818:p.Arg681*		9823749	NM_001134408	O00669|Q17RZ6	Nonsense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	44	10.827836	0.99474	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	.	.	.	X	681;681;524;681;681	.	.	R	-	1	2	GRIN2A	9823749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.695000	0.98691	2.655000	0.90218	0.655000	0.94253	CGA		0.448	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9934931	9934931	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:9934931C>A	ENST00000396573.2	-	7	1668	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K453N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K453N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K453N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K453N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K296N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	453					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.K453N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCAGCATTTCTTCACATTCA	0.423																																					p.K453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1359T	16						.						95.0	84.0	88.0					16																	9934931		2197	4300	6497	9842432	SO:0001583	missense	2903	exon6				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1359G>T	16.37:g.9934931C>A	ENSP00000379818:p.Lys453Asn		9842432	NM_001134408	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706312	0.68615	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.63	-0.153	0.13403	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.43923	1.385	0.50632	D	0.999882	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.976;0.982;0.997	T	0.45862	-0.9232	9	.	.	.	.	9.8985	0.41334	0.0:0.5841:0.0:0.4159	.	296;453;453	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	453;453;296;453;453	ENSP00000379818:K453N;ENSP00000385872:K453N;ENSP00000441572:K296N;ENSP00000332549:K453N;ENSP00000379820:K453N	.	K	-	3	2	GRIN2A	9842432	0.682000	0.27624	0.995000	0.50966	0.986000	0.74619	-0.143000	0.10296	-0.004000	0.14419	-0.302000	0.09304	AAG		0.423	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
PRDM7	11105	broad.mit.edu	37	16	90126764	90126764	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:90126764G>A	ENST00000449207.2	-	9	1237	c.1218C>T	c.(1216-1218)agC>agT	p.S406S	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	406					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.S406S(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTGCCATGAGCTCTTTCTTC	0.463																																					p.S406S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	16						.						94.0	98.0	97.0					16																	90126764		1903	4105	6008	88654265	SO:0001819	synonymous_variant	11105	exon9			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1218C>T	16.37:g.90126764G>A			88654265	NM_001098173	A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000449207.2	37	CCDS45557.1																																																																																				0.463	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1		
DSEL	92126	broad.mit.edu	37	18	65181248	65181248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:65181248delT	ENST00000310045.7	-	2	2101	c.628delA	c.(628-630)atafs	p.I210fs	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	200					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.I210fs*30(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATAACCCATATTTTTTCCAGG	0.383																																					p.I210fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.628delA	18						.						64.0	63.0	63.0					18																	65181248		2203	4300	6503	63332228	SO:0001589	frameshift_variant	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.628delA	18.37:g.65181248delT	ENSP00000310565:p.Ile210fs		63332228	NM_032160	Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	ENST00000310045.7	37	CCDS11995.1																																																																																				0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
APCDD1	147495	broad.mit.edu	37	18	10471810	10471810	+	Missense_Mutation	SNP	G	G	A	rs115383241		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:10471810G>A	ENST00000355285.5	+	3	880	c.526G>A	c.(526-528)Gca>Aca	p.A176T	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.A176T(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGGCTTCCTCGCAGACGGGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15713	0.0		0.001	False		,,,				2504	0.0				p.A176T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	18						.	G	THR/ALA	0,4406		0,0,2203	75.0	79.0	78.0		526	3.4	0.0	18	dbSNP_132	78	1,8599	1.2+/-3.3	0,1,4299	no	missense	APCDD1	NM_153000.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	176/515	10471810	1,13005	2203	4300	6503	10461810	SO:0001583	missense	147495	exon3			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.526G>A	18.37:g.10471810G>A	ENSP00000347433:p.Ala176Thr		10461810	NM_153000		Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.35	1.325441	0.24080	0.0	1.16E-4	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16196	2.36	5.3	3.41	0.39046	.	0.443695	0.26474	N	0.024168	T	0.07098	0.0180	N	0.08118	0	0.18873	N	0.999984	B	0.21381	0.055	B	0.15052	0.012	T	0.23976	-1.0173	10	0.33141	T	0.24	-14.6555	4.5317	0.12008	0.1185:0.5571:0.2297:0.0947	.	176	Q8J025	APCD1_HUMAN	T	176;227	ENSP00000347433:A176T	ENSP00000347433:A176T	A	+	1	0	APCDD1	10461810	0.545000	0.26449	0.002000	0.10522	0.006000	0.05464	1.941000	0.40233	1.241000	0.43820	0.655000	0.94253	GCA		0.632	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000	
GNAL	2774	broad.mit.edu	37	18	11872310	11872310	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:11872310G>T	ENST00000423027.3	+	10	1165	c.844G>T	c.(844-846)Gat>Tat	p.D282Y	GNAL_ENST00000269162.5_Missense_Mutation_p.D282Y|GNAL_ENST00000535121.1_Missense_Mutation_p.D282Y|GNAL_ENST00000602628.1_Missense_Mutation_p.D75Y|GNAL_ENST00000334049.6_Missense_Mutation_p.D359Y			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	282					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D359Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GAACAAACAAGATATGCTGGC	0.338																																					p.D282Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844T	18						.						111.0	115.0	113.0					18																	11872310		2203	4298	6501	11862310	SO:0001583	missense	2774	exon11			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.844G>T	18.37:g.11872310G>T	ENSP00000408489:p.Asp282Tyr		11862310	NM_001142339	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563582	0.86335	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98956	1.0796	10	0.87932	D	0	.	19.5608	0.95371	0.0:0.0:1.0:0.0	.	282;359	P38405;Q86XU3	GNAL_HUMAN;.	Y	221;359;282;282;282;75	ENSP00000334051:D359Y;ENSP00000439023:D282Y;ENSP00000269162:D282Y;ENSP00000408489:D282Y	ENSP00000269162:D282Y	D	+	1	0	GNAL	11862310	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.420000	0.97426	2.698000	0.92095	0.561000	0.74099	GAT		0.338	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
SPIRE1	56907	broad.mit.edu	37	18	12449837	12449837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:12449837C>A	ENST00000409402.4	-	17	2338	c.2071G>T	c.(2071-2073)Gag>Tag	p.E691*	RP11-861E21.2_ENST00000589795.1_RNA|RP11-861E21.2_ENST00000588197.1_RNA|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Nonsense_Mutation_p.E677*|SPIRE1_ENST00000453447.2_Nonsense_Mutation_p.E557*|SPIRE1_ENST00000309836.5_Nonsense_Mutation_p.E480*	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.E518*(1)|p.E691*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCCATCAACTCTTTGGGAAAC	0.458																																					p.E677X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2029T	18						.						97.0	93.0	95.0					18																	12449837		2203	4300	6503	12439837	SO:0001587	stop_gained	56907	exon16			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.2071G>T	18.37:g.12449837C>A	ENSP00000387266:p.Glu691*		12439837	NM_020148		Nonsense_Mutation	SNP	ENST00000409402.4	37	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	40	8.470239	0.98825	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	.	.	.	5.72	5.72	0.89469	.	0.094583	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.0999	19.8965	0.96963	0.0:1.0:0.0:0.0	.	.	.	.	X	557;691;677;480	.	ENSP00000309661:E480X	E	-	1	0	SPIRE1	12439837	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.519000	0.67074	2.717000	0.92951	0.655000	0.94253	GAG		0.458	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
CEP76	79959	broad.mit.edu	37	18	12678336	12678336	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:12678336G>T	ENST00000262127.2	-	10	1620	c.1395C>A	c.(1393-1395)ttC>ttA	p.F465L	PSMG2_ENST00000589405.1_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.F390L|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	465					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.F465L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AATTTCCCAGGAACATCTGAT	0.418																																					p.F465L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1395A	18						.						181.0	172.0	175.0					18																	12678336		2203	4300	6503	12668336	SO:0001583	missense	79959	exon10			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1395C>A	18.37:g.12678336G>T	ENSP00000262127:p.Phe465Leu		12668336	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999047	0.74818	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.31510	1.49;1.49	5.6	2.41	0.29592	.	0.092545	0.85682	D	0.000000	T	0.50667	0.1629	M	0.82823	2.61	0.52099	D	0.999947	D;D	0.76494	0.976;0.999	P;D	0.69654	0.797;0.965	T	0.49995	-0.8879	10	0.22706	T	0.39	1.146	9.5958	0.39573	0.368:0.0:0.632:0.0	.	390;465	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	L	465;390	ENSP00000262127:F465L;ENSP00000403074:F390L	ENSP00000262127:F465L	F	-	3	2	CEP76	12668336	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.454000	0.35178	0.731000	0.32448	0.561000	0.74099	TTC		0.418	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
CEP76	79959	broad.mit.edu	37	18	12691450	12691450	+	Nonsense_Mutation	SNP	G	G	A	rs202106348		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:12691450G>A	ENST00000262127.2	-	7	1066	c.841C>T	c.(841-843)Cga>Tga	p.R281*	CEP76_ENST00000423709.2_Nonsense_Mutation_p.R206*|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	281					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.R281*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGAAATAATCGCTCTTTCTCT	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15797	0.0		0.0	False		,,,				2504	0.0				p.R281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C841T	18						.						92.0	92.0	92.0					18																	12691450		2203	4300	6503	12681450	SO:0001587	stop_gained	79959	exon7			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.841C>T	18.37:g.12691450G>A	ENSP00000262127:p.Arg281*		12681450	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Nonsense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	38	6.869888	0.97901	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1647	14.6031	0.68456	0.0:0.0:0.8541:0.1459	.	.	.	.	X	281;206	.	ENSP00000262127:R281X	R	-	1	2	CEP76	12681450	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.938000	0.48987	2.749000	0.94314	0.460000	0.39030	CGA		0.323	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
CEP76	79959	broad.mit.edu	37	18	12701061	12701061	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:12701061C>T	ENST00000262127.2	-	2	340	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	CEP76_ENST00000423709.2_Missense_Mutation_p.E39K|PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000590217.1_5'Flank|CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000317615.6_5'Flank	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	39					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)		p.E39K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTGCCAATTCTTCCCGTATA	0.358																																					p.E39K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115A	18						.						141.0	126.0	131.0					18																	12701061		2203	4300	6503	12691061	SO:0001583	missense	79959	exon2			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.115G>A	18.37:g.12701061C>T	ENSP00000262127:p.Glu39Lys		12691061	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166446	0.78339	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;D	0.81996	-1.3;-1.56	5.29	5.29	0.74685	.	0.150219	0.64402	D	0.000018	D	0.87716	0.6247	L	0.40543	1.245	0.35452	D	0.795769	D;P;P	0.67145	0.996;0.557;0.557	D;B;B	0.77557	0.99;0.366;0.124	D	0.88937	0.3377	10	0.35671	T	0.21	0.0015	18.923	0.92532	0.0:1.0:0.0:0.0	.	39;39;39	B4DP81;Q8TAP6-2;Q8TAP6	.;.;CEP76_HUMAN	K	39	ENSP00000262127:E39K;ENSP00000403074:E39K	ENSP00000262127:E39K	E	-	1	0	CEP76	12691061	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.484000	0.81180	2.456000	0.83038	0.557000	0.71058	GAA		0.358	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
PTPN2	5771	broad.mit.edu	37	18	12859247	12859247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:12859247G>A	ENST00000309660.5	-	2	169	c.76C>T	c.(76-78)Cga>Tga	p.R26*	PTPN2_ENST00000327283.3_Nonsense_Mutation_p.R26*|PTPN2_ENST00000353319.4_Nonsense_Mutation_p.R26*|PTPN2_ENST00000591115.1_Nonsense_Mutation_p.R26*|PTPN2_ENST00000589086.1_5'UTR	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	26	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.R26*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GACTCATTTCGAATTTCCtta	0.358																																					p.R26X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C76T	18						.						88.0	73.0	78.0					18																	12859247		2203	4300	6503	12849247	SO:0001587	stop_gained	5771	exon2			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.76C>T	18.37:g.12859247G>A	ENSP00000311857:p.Arg26*		12849247	NM_080422	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Nonsense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771191	0.96922	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000309660	.	.	.	5.41	5.41	0.78517	.	0.000000	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1145	0.81295	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000311857:R26X	R	-	1	2	PTPN2	12849247	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.110000	0.57831	2.532000	0.85374	0.591000	0.81541	CGA		0.358	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423	
CEP192	55125	broad.mit.edu	37	18	13071155	13071155	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13071155G>A	ENST00000325971.8	+	26	5097	c.3504G>A	c.(3502-3504)tcG>tcA	p.S1168S	CEP192_ENST00000430049.2_Silent_p.S1289S|CEP192_ENST00000506447.1_Silent_p.S1764S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1168					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.S1168S(1)|p.S1764S(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATATTCCATCGATTTTGTCCA	0.418																																					p.S1764S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5292A	18						.						100.0	101.0	101.0					18																	13071155		2203	4300	6503	13061155	SO:0001819	synonymous_variant	55125	exon28			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3504G>A	18.37:g.13071155G>A			13061155	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.418	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
FAM210A	125228	broad.mit.edu	37	18	13681703	13681703	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13681703C>T	ENST00000322247.3	-	3	761	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	FAM210A_ENST00000402563.1_Missense_Mutation_p.R125Q|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	125	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R125Q(1)									CTTCTTGAATCGTTGATAAAG	0.393																																					p.R125Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G374A	18						.						113.0	114.0	114.0					18																	13681703		2203	4300	6503	13671703	SO:0001583	missense	125228	exon2			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.374G>A	18.37:g.13681703C>T	ENSP00000323635:p.Arg125Gln		13671703	NM_152352	D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882033	0.91740	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.34072	1.38;1.38	5.51	4.64	0.57946	Domain of unknown function DUF1279 (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	L	0.46741	1.465	0.58432	D	0.999999	P	0.51351	0.944	B	0.40825	0.341	T	0.11012	-1.0605	10	0.44086	T	0.13	-12.8084	14.4261	0.67218	0.0:0.9289:0.0:0.0711	.	125	Q96ND0	CR019_HUMAN	Q	125	ENSP00000323635:R125Q;ENSP00000386115:R125Q	ENSP00000323635:R125Q	R	-	2	0	C18orf19	13671703	1.000000	0.71417	0.980000	0.43619	0.939000	0.58152	7.702000	0.84576	1.316000	0.45131	0.655000	0.94253	CGA		0.393	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
MC2R	4158	broad.mit.edu	37	18	13884645	13884645	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13884645G>T	ENST00000327606.3	-	2	1053	c.873C>A	c.(871-873)atC>atA	p.I291I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	291					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.I291I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCTGCAGAAGATCATCTTTT	0.478																																					p.I291I	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873A	18						.						119.0	115.0	116.0					18																	13884645		2203	4300	6503	13874645	SO:0001819	synonymous_variant	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.873C>A	18.37:g.13884645G>T			13874645	NM_000529	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.478	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
MC2R	4158	broad.mit.edu	37	18	13884719	13884719	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13884719A>G	ENST00000327606.3	-	2	979	c.799T>C	c.(799-801)Tgc>Cgc	p.C267R		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	267					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.C267R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACGGCATTGCACATGATCAAC	0.507																																					p.C267R	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T799C	18						.						116.0	106.0	109.0					18																	13884719		2203	4300	6503	13874719	SO:0001583	missense	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.799T>C	18.37:g.13884719A>G	ENSP00000333821:p.Cys267Arg		13874719	NM_000529	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097851	0.56075	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.37584	1.19	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.048698	0.85682	D	0.000000	T	0.63283	0.2498	M	0.87381	2.88	0.80722	D	1	D	0.67145	0.996	D	0.64595	0.927	T	0.71629	-0.4535	10	0.87932	D	0	.	14.81	0.69989	1.0:0.0:0.0:0.0	.	267	Q01718	ACTHR_HUMAN	R	267	ENSP00000333821:C267R	ENSP00000333821:C267R	C	-	1	0	MC2R	13874719	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.363000	0.52321	1.904000	0.55121	0.533000	0.62120	TGC		0.507	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
MC2R	4158	broad.mit.edu	37	18	13885140	13885140	+	Silent	SNP	C	C	T	rs145345722		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13885140C>T	ENST00000327606.3	-	2	558	c.378G>A	c.(376-378)gcG>gcA	p.A126A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	126					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.A126A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCGGTCCGCAGCAATCA	0.572																																					p.A126A	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G378A	18						.	G		1,4405		0,1,2202	111.0	79.0	90.0		378	-3.6	0.0	18	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	MC2R	NM_000529.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		126/298	13885140	1,13005	2203	4300	6503	13875140	SO:0001819	synonymous_variant	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.378G>A	18.37:g.13885140C>T			13875140	NM_000529	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.572	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
MC2R	4158	broad.mit.edu	37	18	13885386	13885386	+	Silent	SNP	G	G	A	rs369691563		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13885386G>A	ENST00000327606.3	-	2	312	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	44					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.I44I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CCAGCAGGACGATCAGATTCT	0.428																																					p.I44I	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	18	GRCh37	CM950791	MC2R	M		.	G		0,4406		0,0,2203	104.0	94.0	97.0		132	-8.3	0.2	18		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MC2R	NM_000529.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		44/298	13885386	1,13005	2203	4300	6503	13875386	SO:0001819	synonymous_variant	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.132C>T	18.37:g.13885386G>A			13875386	NM_000529	A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	CCDS11869.1																																																																																				0.428	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
MC2R	4158	broad.mit.edu	37	18	13885451	13885451	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:13885451G>A	ENST00000327606.3	-	2	247	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	23					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R23C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AAAACCACACGAGGACAGTCG	0.418																																					p.R23C	Colon(141;1584 1782 35999 48227 48692)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67T	18						.						194.0	163.0	174.0					18																	13885451		2203	4300	6503	13875451	SO:0001583	missense	4158	exon2				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.67C>T	18.37:g.13885451G>A	ENSP00000333821:p.Arg23Cys		13875451	NM_000529	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177064	0.21787	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;D	0.84660	0.29;-1.88	4.39	1.49	0.22878	.	1.694500	0.03073	N	0.157497	T	0.71316	0.3325	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.30855	0.121	T	0.64360	-0.6426	10	0.87932	D	0	.	2.6099	0.04888	0.164:0.1471:0.5372:0.1517	.	23	Q01718	ACTHR_HUMAN	C	23	ENSP00000333821:R23C;ENSP00000382718:R23C	ENSP00000333821:R23C	R	-	1	0	MC2R	13875451	0.001000	0.12720	0.391000	0.26233	0.304000	0.27724	1.041000	0.30291	0.403000	0.25479	0.650000	0.86243	CGT		0.418	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2		
ZNF519	162655	broad.mit.edu	37	18	14105352	14105352	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:14105352C>A	ENST00000590202.1	-	3	1339	c.1187G>T	c.(1186-1188)aGa>aTa	p.R396I	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	396					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R396I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AGTATGCATTCTCTGATGCTG	0.418																																					p.R396I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1187T	18						.						105.0	106.0	106.0					18																	14105352		2203	4300	6503	14095352	SO:0001583	missense	162655	exon3			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1187G>T	18.37:g.14105352C>A	ENSP00000464872:p.Arg396Ile		14095352	NM_145287		Missense_Mutation	SNP	ENST00000590202.1	37	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489918	0.26686	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39306	0.1073	L	0.52759	1.655	0.42764	D	0.993815	P	0.48162	0.906	B	0.39419	0.299	T	0.24870	-1.0148	8	0.30078	T	0.28	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	396	Q8TB69	ZN519_HUMAN	I	396	.	ENSP00000307908:R396I	R	-	2	0	ZNF519	14095352	0.000000	0.05858	0.768000	0.31515	0.513000	0.34164	-0.739000	0.04866	0.661000	0.30985	0.089000	0.15464	AGA		0.418	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287	
ZNF519	162655	broad.mit.edu	37	18	14106001	14106002	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:14106001_14106002AG>CT	ENST00000590202.1	-	3	689_690	c.537_538CT>AG	c.(535-540)aaCTat>aaAGat	p.179_180NY>KD	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	179					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N179>?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CAATTGTAATAGTTTTCTAGAA	0.243																																					.												.	.	1	Complex(1)	large_intestine(1)	c.537_538AG	18						.																																			14096002	SO:0001583	missense	162655	exon3			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.537_538delinsCT	18.37:g.14106001_14106002delinsCT	ENSP00000464872:p.N179_Y180delinsKD		14096001	NM_145287		Missense_Mutation	DNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.243	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287	
ROCK1	6093	broad.mit.edu	37	18	18547870	18547870	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:18547870C>T	ENST00000399799.2	-	26	3975	c.3035G>A	c.(3034-3036)cGa>cAa	p.R1012Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1012					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1012Q(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAAATCTTTTCGATTCATTAT	0.264																																					p.R1012Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3035A	18						.						65.0	63.0	64.0					18																	18547870		2203	4300	6503	16801868	SO:0001583	missense	6093	exon26				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3035G>A	18.37:g.18547870C>T	ENSP00000382697:p.Arg1012Gln		16801868	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	32	5.181034	0.94846	.	.	ENSG00000067900	ENST00000399799	T	0.14022	2.54	5.29	4.42	0.53409	Rho Binding (2);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	M	0.82193	2.58	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.42649	-0.9439	10	0.72032	D	0.01	.	13.8132	0.63276	0.0:0.9263:0.0:0.0737	.	1012	Q13464	ROCK1_HUMAN	Q	1012	ENSP00000382697:R1012Q	ENSP00000382697:R1012Q	R	-	2	0	ROCK1	16801868	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.818000	0.86416	1.230000	0.43646	0.585000	0.79938	CGA		0.264	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ROCK1	6093	broad.mit.edu	37	18	18550366	18550366	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:18550366C>A	ENST00000399799.2	-	23	3703	c.2763G>T	c.(2761-2763)aaG>aaT	p.K921N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	921	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K921N(2)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAGCAGCTTTCTTGCTTTCTT	0.378																																					p.K921N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2763T	18						.						193.0	173.0	180.0					18																	18550366		2203	4300	6503	16804364	SO:0001583	missense	6093	exon23				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2763G>T	18.37:g.18550366C>A	ENSP00000382697:p.Lys921Asn		16804364	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911119	0.72983	.	.	ENSG00000067900	ENST00000399799	T	0.14144	2.53	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	M	0.75615	2.305	0.58432	D	0.999998	P	0.45986	0.87	B	0.43194	0.411	T	0.00766	-1.1575	10	0.66056	D	0.02	.	9.0101	0.36135	0.0:0.8339:0.0:0.1661	.	921	Q13464	ROCK1_HUMAN	N	921	ENSP00000382697:K921N	ENSP00000382697:K921N	K	-	3	2	ROCK1	16804364	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.399000	0.44495	2.663000	0.90544	0.563000	0.77884	AAG		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ROCK1	6093	broad.mit.edu	37	18	18571266	18571266	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:18571266C>A	ENST00000399799.2	-	18	2954	c.2014G>T	c.(2014-2016)Gat>Tat	p.D672Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	672	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D672Y(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TAGTTTAAATCTATCTCTAAA	0.308																																					p.D672Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2014T	18						.						158.0	147.0	151.0					18																	18571266		2202	4300	6502	16825264	SO:0001583	missense	6093	exon18				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2014G>T	18.37:g.18571266C>A	ENSP00000382697:p.Asp672Tyr		16825264	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366601	0.82463	.	.	ENSG00000067900	ENST00000399799	T	0.67171	-0.25	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85936	0.1455	10	0.87932	D	0	.	17.0053	0.86391	0.0:1.0:0.0:0.0	.	672	Q13464	ROCK1_HUMAN	Y	672	ENSP00000382697:D672Y	ENSP00000382697:D672Y	D	-	1	0	ROCK1	16825264	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.936000	0.75892	2.215000	0.71742	0.655000	0.94253	GAT		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ROCK1	6093	broad.mit.edu	37	18	18629180	18629180	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:18629180T>G	ENST00000399799.2	-	4	1227	c.287A>C	c.(286-288)aAa>aCa	p.K96T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K96T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CCTGGTGGATTTATGCCTTAC	0.333																																					p.K96T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287C	18						.						90.0	96.0	94.0					18																	18629180		2203	4300	6503	16883178	SO:0001583	missense	6093	exon4				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.287A>C	18.37:g.18629180T>G	ENSP00000382697:p.Lys96Thr		16883178	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	31	5.071801	0.93950	.	.	ENSG00000067900	ENST00000399799	T	0.66995	-0.24	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	L	0.57536	1.79	0.80722	D	1	P	0.48503	0.911	P	0.57057	0.812	T	0.78797	-0.2063	10	0.87932	D	0	.	16.3985	0.83631	0.0:0.0:0.0:1.0	.	96	Q13464	ROCK1_HUMAN	T	96	ENSP00000382697:K96T	ENSP00000382697:K96T	K	-	2	0	ROCK1	16883178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.236000	0.72339	2.274000	0.75844	0.519000	0.50382	AAA		0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ESCO1	114799	broad.mit.edu	37	18	19147949	19147949	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19147949T>G	ENST00000269214.5	-	5	2574	c.1637A>C	c.(1636-1638)aAa>aCa	p.K546T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	546					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.K546T(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ACCTGGAAATTTATTCTCTCC	0.343																																					p.K546T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1637C	18						.						76.0	76.0	76.0					18																	19147949		2203	4300	6503	17401947	SO:0001583	missense	114799	exon5			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1637A>C	18.37:g.19147949T>G	ENSP00000269214:p.Lys546Thr		17401947	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285876	0.40394	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59772	0.24;1.78	5.6	1.58	0.23477	.	0.353834	0.27802	N	0.017788	T	0.41903	0.1179	L	0.33485	1.01	0.23620	N	0.997276	B	0.17852	0.024	B	0.15052	0.012	T	0.21075	-1.0256	10	0.16420	T	0.52	-13.4284	11.9577	0.52991	0.0:0.0:0.404:0.596	.	546	Q5FWF5	ESCO1_HUMAN	T	546	ENSP00000269214:K546T;ENSP00000372763:K546T	ENSP00000269214:K546T	K	-	2	0	ESCO1	17401947	1.000000	0.71417	0.935000	0.37517	0.939000	0.58152	1.517000	0.35867	0.085000	0.17107	0.528000	0.53228	AAA		0.343	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ESCO1	114799	broad.mit.edu	37	18	19153906	19153906	+	Missense_Mutation	SNP	C	C	T	rs575811331		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19153906C>T	ENST00000269214.5	-	4	1836	c.899G>A	c.(898-900)cGa>cAa	p.R300Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	300					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R300Q(2)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AATACTACCTCGTTTGCTCTT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19454	0.0		0.0	False		,,,				2504	0.001				p.R300Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G899A	18						.						87.0	86.0	86.0					18																	19153906		2202	4300	6502	17407904	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.899G>A	18.37:g.19153906C>T	ENSP00000269214:p.Arg300Gln		17407904	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776322	0.70107	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.68765	-0.35;1.15	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000093	T	0.77425	0.4128	M	0.66939	2.045	0.40957	D	0.984595	D	0.89917	1.0	D	0.64506	0.926	T	0.79004	-0.1980	10	0.54805	T	0.06	-20.1383	11.9722	0.53069	0.0:0.9208:0.0:0.0792	.	300	Q5FWF5	ESCO1_HUMAN	Q	300	ENSP00000269214:R300Q;ENSP00000372763:R300Q	ENSP00000269214:R300Q	R	-	2	0	ESCO1	17407904	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.500000	0.53318	2.599000	0.87857	0.655000	0.94253	CGA		0.403	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ESCO1	114799	broad.mit.edu	37	18	19154706	19154706	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19154706C>A	ENST00000269214.5	-	4	1036	c.99G>T	c.(97-99)aaG>aaT	p.K33N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	33					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.K33N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTGCTAGATTCTTTTGAGAAT	0.338																																					p.K33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	18						.						132.0	130.0	131.0					18																	19154706		2203	4299	6502	17408704	SO:0001583	missense	114799	exon4			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.99G>T	18.37:g.19154706C>A	ENSP00000269214:p.Lys33Asn		17408704	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.889903	0.00527	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.58940	0.3;1.86	5.1	-1.31	0.09230	.	0.935982	0.09004	N	0.862570	T	0.33177	0.0854	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.33940	T	0.23	-19.8152	0.1029	0.00050	0.296:0.1751:0.2469:0.2821	.	33	Q5FWF5	ESCO1_HUMAN	N	33	ENSP00000269214:K33N;ENSP00000372763:K33N	ENSP00000269214:K33N	K	-	3	2	ESCO1	17408704	0.000000	0.05858	0.394000	0.26270	0.982000	0.71751	-0.534000	0.06150	-0.385000	0.07833	0.655000	0.94253	AAG		0.338	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ABHD3	171586	broad.mit.edu	37	18	19231709	19231709	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19231709G>A	ENST00000289119.2	-	9	1212	c.1073C>T	c.(1072-1074)aCt>aTt	p.T358I	ABHD3_ENST00000580981.1_Missense_Mutation_p.T305I|ABHD3_ENST00000578270.1_Missense_Mutation_p.T163I	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	358						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.T358I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTGCTTAGCAGTTTCTATTGG	0.368																																					p.T358I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1073T	18						.						63.0	59.0	60.0					18																	19231709		2203	4300	6503	17485707	SO:0001583	missense	171586	exon9			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.1073C>T	18.37:g.19231709G>A	ENSP00000289119:p.Thr358Ile		17485707	NM_138340	B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853238	0.32699	.	.	ENSG00000158201	ENST00000289119	T	0.69685	-0.42	5.35	5.35	0.76521	.	0.048652	0.85682	D	0.000000	T	0.59905	0.2228	L	0.44542	1.39	0.50039	D	0.99984	B	0.12013	0.005	B	0.18263	0.021	T	0.58612	-0.7606	10	0.59425	D	0.04	-4.048	13.3697	0.60707	0.0755:0.0:0.9245:0.0	.	358	Q8WU67	ABHD3_HUMAN	I	358	ENSP00000289119:T358I	ENSP00000289119:T358I	T	-	2	0	ABHD3	17485707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.402000	0.66332	2.515000	0.84797	0.585000	0.79938	ACT		0.368	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1		
ABHD3	171586	broad.mit.edu	37	18	19239217	19239217	+	Silent	SNP	G	G	A	rs151040212		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19239217G>A	ENST00000289119.2	-	6	895	c.756C>T	c.(754-756)ttC>ttT	p.F252F	RP11-13N13.5_ENST00000584148.1_RNA|ABHD3_ENST00000580981.1_Silent_p.F199F|ABHD3_ENST00000578270.1_Silent_p.F57F	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	252						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.F252F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTGAGCAAGCGAAGGTGTTCC	0.408																																					p.F252F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756T	18						.	G		0,4406		0,0,2203	90.0	92.0	91.0		756	0.3	1.0	18	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABHD3	NM_138340.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		252/410	19239217	2,13004	2203	4300	6503	17493215	SO:0001819	synonymous_variant	171586	exon6			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.756C>T	18.37:g.19239217G>A			17493215	NM_138340	B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	CCDS32802.1																																																																																				0.408	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1		
ABHD3	171586	broad.mit.edu	37	18	19282317	19282317	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19282317T>G	ENST00000289119.2	-	3	608	c.469A>C	c.(469-471)Atc>Ctc	p.I157L	ABHD3_ENST00000580981.1_Missense_Mutation_p.I157L|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	157						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.I157L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ATATGAAGGATATATGACTCC	0.368																																					p.I157L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A469C	18						.						90.0	88.0	89.0					18																	19282317		2203	4300	6503	17536315	SO:0001583	missense	171586	exon3			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.469A>C	18.37:g.19282317T>G	ENSP00000289119:p.Ile157Leu		17536315	NM_138340	B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095613	0.56075	.	.	ENSG00000158201	ENST00000289119	T	0.08546	3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.46819	1.47	0.80722	D	1	P	0.41597	0.756	P	0.46885	0.53	T	0.00485	-1.1711	10	0.62326	D	0.03	-0.5954	15.7247	0.77747	0.0:0.0:0.0:1.0	.	157	Q8WU67	ABHD3_HUMAN	L	157	ENSP00000289119:I157L	ENSP00000289119:I157L	I	-	1	0	ABHD3	17536315	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.930000	0.70104	2.116000	0.64780	0.533000	0.62120	ATC		0.368	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1		
MIB1	57534	broad.mit.edu	37	18	19359513	19359513	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19359513G>A	ENST00000261537.6	+	6	1039	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	AC091038.1_ENST00000582102.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	259					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E259K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TCTCGACCTCGAAATTGTACA	0.423																																					p.E259K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	18						.						263.0	240.0	248.0					18																	19359513		2203	4300	6503	17613511	SO:0001583	missense	57534	exon6			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.775G>A	18.37:g.19359513G>A	ENSP00000261537:p.Glu259Lys		17613511	NM_020774	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214185	0.58452	.	.	ENSG00000101752	ENST00000261537	T	0.39406	1.08	4.67	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.83012	2.62	0.80722	D	1	P	0.50272	0.933	P	0.52189	0.692	T	0.65923	-0.6050	10	0.72032	D	0.01	-19.1978	13.328	0.60471	0.0776:0.0:0.9224:0.0	.	259	Q86YT6	MIB1_HUMAN	K	259	ENSP00000261537:E259K	ENSP00000261537:E259K	E	+	1	0	MIB1	17613511	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	7.981000	0.88123	1.109000	0.41680	-0.704000	0.03662	GAA		0.423	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
MIB1	57534	broad.mit.edu	37	18	19429285	19429285	+	Missense_Mutation	SNP	C	C	A	rs138079123		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:19429285C>A	ENST00000261537.6	+	17	2786	c.2522C>A	c.(2521-2523)tCt>tAt	p.S841Y	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	841					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S841Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GCTACCTGTTCTTTATGTTCT	0.343																																					p.S841Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2522A	18						.						166.0	154.0	158.0					18																	19429285		2203	4300	6503	17683283	SO:0001583	missense	57534	exon17			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2522C>A	18.37:g.19429285C>A	ENSP00000261537:p.Ser841Tyr		17683283	NM_020774	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642551	0.67244	.	.	ENSG00000101752	ENST00000261537	T	0.78816	-1.21	5.33	5.33	0.75918	Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	L	0.42529	1.33	0.80722	D	1	D	0.57257	0.979	D	0.70487	0.969	D	0.83484	0.0066	10	0.41790	T	0.15	-11.9712	19.0421	0.93004	0.0:1.0:0.0:0.0	.	841	Q86YT6	MIB1_HUMAN	Y	841	ENSP00000261537:S841Y	ENSP00000261537:S841Y	S	+	2	0	MIB1	17683283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.494000	0.84150	0.585000	0.79938	TCT		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
NPC1	4864	broad.mit.edu	37	18	21125098	21125098	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21125098C>A	ENST00000269228.5	-	12	2327	c.1773G>T	c.(1771-1773)gtG>gtT	p.V591V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.V273V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	591					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.V591V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTAGTTTTTCACAAAATTAA	0.333																																					p.V591V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1773T	18						.						63.0	62.0	62.0					18																	21125098		2203	4300	6503	19379096	SO:0001819	synonymous_variant	4864	exon12			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1773G>T	18.37:g.21125098C>A			19379096	NM_000271	B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	CCDS11878.1																																																																																				0.333	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
NPC1	4864	broad.mit.edu	37	18	21134924	21134924	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21134924C>T	ENST00000269228.5	-	9	1905	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E201K	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	451			E -> K (in NPC1). {ECO:0000269|PubMed:12401890}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)	p.E451K(2)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTAATGTTTTCGATGGCTATT	0.393																																					p.E451K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1351A	18	GRCh37	CM024407	NPC1	M		.						110.0	83.0	92.0					18																	21134924		2203	4300	6503	19388922	SO:0001583	missense	4864	exon9			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1351G>A	18.37:g.21134924C>T	ENSP00000269228:p.Glu451Lys		19388922	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108661	0.37242	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88818	-2.43;-2.43	4.88	4.88	0.63580	.	0.103731	0.64402	D	0.000005	D	0.83801	0.5333	L	0.39147	1.195	0.43069	D	0.994702	B;B	0.21381	0.055;0.055	B;B	0.17098	0.011;0.017	T	0.79495	-0.1780	10	0.09338	T	0.73	-23.645	18.4005	0.90514	0.0:1.0:0.0:0.0	.	462;451	Q59GR1;O15118	.;NPC1_HUMAN	K	451;201;296	ENSP00000269228:E451K;ENSP00000408606:E201K	ENSP00000269228:E451K	E	-	1	0	NPC1	19388922	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.814000	0.69208	2.402000	0.81655	0.655000	0.94253	GAA		0.393	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
LAMA3	3909	broad.mit.edu	37	18	21422438	21422438	+	Missense_Mutation	SNP	C	C	T	rs369681836		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21422438C>T	ENST00000313654.9	+	28	3657	c.3416C>T	c.(3415-3417)cCg>cTg	p.P1139L	LAMA3_ENST00000399516.3_Missense_Mutation_p.P1139L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1139	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.P1139L(1)|p.P1139Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCAGCGCACCCGACGTTTCCC	0.587																																					p.P1139L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3416T	18						.	C	LEU/PRO,LEU/PRO	1,4077		0,1,2038	75.0	79.0	78.0		3416,3416	5.5	0.9	18		78	0,8332		0,0,4166	no	missense,missense	LAMA3	NM_001127717.1,NM_198129.1	98,98	0,1,6204	TT,TC,CC		0.0,0.0245,0.0081	probably-damaging,probably-damaging	1139/3278,1139/3334	21422438	1,12409	2039	4166	6205	19676436	SO:0001583	missense	3909	exon28			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3416C>T	18.37:g.21422438C>T	ENSP00000324532:p.Pro1139Leu		19676436	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623411	0.87460	2.45E-4	0.0	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19250	2.17;2.16	5.46	5.46	0.80206	.	.	.	.	.	T	0.53367	0.1792	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.87578	0.709;0.998	T	0.56147	-0.8027	9	0.48119	T	0.1	.	19.3195	0.94233	0.0:1.0:0.0:0.0	.	1139;1139	Q6VU67;Q16787	.;LAMA3_HUMAN	L	1139;1139;1137	ENSP00000324532:P1139L;ENSP00000382432:P1139L	ENSP00000324532:P1139L	P	+	2	0	LAMA3	19676436	0.982000	0.34865	0.853000	0.33588	0.024000	0.10985	3.889000	0.56212	2.582000	0.87167	0.655000	0.94253	CCG		0.587	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21426288	21426288	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21426288G>T	ENST00000313654.9	+	31	3988	c.3747G>T	c.(3745-3747)aaG>aaT	p.K1249N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K1249N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1249	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.K1249N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GATTCTGTAAGAATTCCGCCA	0.607																																					p.K1249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3747T	18						.						112.0	117.0	115.0					18																	21426288		1972	4156	6128	19680286	SO:0001583	missense	3909	exon31			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3747G>T	18.37:g.21426288G>T	ENSP00000324532:p.Lys1249Asn		19680286	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776880	0.70107	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.20598	2.07;2.06	5.97	5.97	0.96955	.	.	.	.	.	T	0.33000	0.0848	M	0.77616	2.38	0.80722	D	1	P;P	0.51449	0.945;0.931	P;P	0.49226	0.603;0.522	T	0.03423	-1.1038	9	0.33141	T	0.24	.	10.7282	0.46081	0.1407:0.0:0.8593:0.0	.	1249;1249	Q6VU67;Q16787	.;LAMA3_HUMAN	N	1249;1249;1247	ENSP00000324532:K1249N;ENSP00000382432:K1249N	ENSP00000324532:K1249N	K	+	3	2	LAMA3	19680286	1.000000	0.71417	0.995000	0.50966	0.946000	0.59487	3.120000	0.50430	2.837000	0.97791	0.655000	0.94253	AAG		0.607	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21481258	21481258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21481258G>T	ENST00000313654.9	+	48	6413	c.6172G>T	c.(6172-6174)Gaa>Taa	p.E2058*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.E393*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E2002*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.E449*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2058	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.E2058*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTTGAACCAAGAAAACGAGAG	0.463																																					p.E393X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1177T	18						.						53.0	51.0	52.0					18																	21481258		2203	4300	6503	19735256	SO:0001587	stop_gained	3909	exon10			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6172G>T	18.37:g.21481258G>T	ENSP00000324532:p.Glu2058*		19735256	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	47	13.642777	0.99754	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.8686	0.96842	0.0:0.0:1.0:0.0	.	.	.	.	X	2058;2002;449	.	ENSP00000269217:E449X	E	+	1	0	LAMA3	19735256	0.977000	0.34250	0.099000	0.21106	0.946000	0.59487	5.012000	0.64017	2.768000	0.95171	0.655000	0.94253	GAA		0.463	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21501518	21501518	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21501518C>A	ENST00000313654.9	+	62	8387	c.8146C>A	c.(8146-8148)Ctg>Atg	p.L2716M	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.L1051M|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2660M|LAMA3_ENST00000269217.6_Missense_Mutation_p.L1107M	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2716	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.L2716M(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CACATATTATCTGGGAGGAAT	0.328																																					p.L1051M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3151A	18						.						121.0	127.0	125.0					18																	21501518		2203	4300	6503	19755516	SO:0001583	missense	3909	exon24			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8146C>A	18.37:g.21501518C>A	ENSP00000324532:p.Leu2716Met		19755516	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306318	0.60305	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	D;D;D	0.82711	-1.64;-1.64;-1.64	5.77	3.02	0.34903	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.85071	0.5613	M	0.66939	2.045	0.36539	D	0.871182	P;P;P;D	0.53619	0.918;0.918;0.934;0.961	P;P;P;P	0.53401	0.554;0.577;0.544;0.725	D	0.86042	0.1520	9	0.72032	D	0.01	.	9.2693	0.37661	0.0:0.7031:0.0:0.2969	.	1051;1107;2660;2716	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	M	2716;2660;1107	ENSP00000324532:L2716M;ENSP00000382432:L2660M;ENSP00000269217:L1107M	ENSP00000269217:L1107M	L	+	1	2	LAMA3	19755516	0.915000	0.31059	0.988000	0.46212	0.989000	0.77384	0.503000	0.22610	0.362000	0.24319	-0.140000	0.14226	CTG		0.328	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21529764	21529764	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21529764G>T	ENST00000313654.9	+	71	9628	c.9387G>T	c.(9385-9387)aaG>aaT	p.K3129N	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.K1464N|LAMA3_ENST00000399516.3_Missense_Mutation_p.K3073N|LAMA3_ENST00000269217.6_Missense_Mutation_p.K1520N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3129	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.K3129N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GATGCCTGAAGAACTTTCAGC	0.478																																					p.K1464N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4392T	18						.						80.0	81.0	80.0					18																	21529764		2203	4300	6503	19783762	SO:0001583	missense	3909	exon33			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9387G>T	18.37:g.21529764G>T	ENSP00000324532:p.Lys3129Asn		19783762	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043467	0.75732	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.55	4.67	0.58626	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82421	0.5033	M	0.64404	1.975	0.29401	N	0.861954	P;P;P;P	0.49783	0.684;0.734;0.858;0.928	B;P;P;P	0.54401	0.419;0.501;0.685;0.751	T	0.78638	-0.2126	9	0.72032	D	0.01	.	11.8353	0.52321	0.1429:0.0:0.8571:0.0	.	1464;1520;3073;3129	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	3129;3073;1520	ENSP00000324532:K3129N;ENSP00000382432:K3073N;ENSP00000269217:K1520N	ENSP00000269217:K1520N	K	+	3	2	LAMA3	19783762	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.003000	0.49505	1.316000	0.45131	0.655000	0.94253	AAG		0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu	37	18	21530075	21530075	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21530075C>T	ENST00000313654.9	+	72	9835	c.9594C>T	c.(9592-9594)atC>atT	p.I3198I	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.I1533I|LAMA3_ENST00000399516.3_Silent_p.I3142I|LAMA3_ENST00000269217.6_Silent_p.I1589I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3198	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.I3198I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAATACACATCGGAAGTCAGC	0.478																																					p.I1533I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4599T	18						.						115.0	112.0	113.0					18																	21530075		2203	4300	6503	19784073	SO:0001819	synonymous_variant	3909	exon34			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9594C>T	18.37:g.21530075C>T			19784073	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.478	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
TTC39C	125488	broad.mit.edu	37	18	21660836	21660836	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:21660836C>T	ENST00000317571.3	+	5	984	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	TTC39C_ENST00000304621.6_Missense_Mutation_p.R189C|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	250								p.R189C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCTGGAGACCGCCTACAGGG	0.473																																					p.R250C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748T	18						.						68.0	68.0	68.0					18																	21660836		2203	4300	6503	19914834	SO:0001583	missense	125488	exon5			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.748C>T	18.37:g.21660836C>T	ENSP00000323645:p.Arg250Cys		19914834	NM_001135993	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	c	29.6	5.018276	0.93404	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.61274	0.12;0.12	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80817	-0.1213	10	0.87932	D	0	-23.0351	20.0231	0.97510	0.0:1.0:0.0:0.0	.	250	Q8N584	TT39C_HUMAN	C	189;250	ENSP00000306598:R189C;ENSP00000323645:R250C	ENSP00000306598:R189C	R	+	1	0	TTC39C	19914834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.485000	0.81204	2.733000	0.93635	0.552000	0.68991	CGC		0.473	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	
HRH4	59340	broad.mit.edu	37	18	22057076	22057076	+	Silent	SNP	G	G	A	rs372177844		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:22057076G>A	ENST00000256906.4	+	3	823	c.723G>A	c.(721-723)tcG>tcA	p.S241S	HRH4_ENST00000426880.2_Silent_p.S153S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	241					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.S241S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TTTCTGCATCGACAGAAGTTC	0.443																																					p.S153S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G459A	18						.	G	,,	1,4405	2.1+/-5.4	0,1,2202	116.0	113.0	114.0		459,,723	-3.3	0.0	18		114	0,8600		0,0,4300	no	coding-synonymous,utr-3,coding-synonymous	HRH4	NM_001143828.1,NM_001160166.1,NM_021624.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	153/303,,241/391	22057076	1,13005	2203	4300	6503	20311074	SO:0001819	synonymous_variant	59340	exon2			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.723G>A	18.37:g.22057076G>A			20311074	NM_001143828	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Silent	SNP	ENST00000256906.4	37	CCDS11887.1																																																																																				0.443	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1		
ZNF521	25925	broad.mit.edu	37	18	22804990	22804990	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:22804990G>A	ENST00000361524.3	-	4	3040	c.2892C>T	c.(2890-2892)tgC>tgT	p.C964C	ZNF521_ENST00000584787.1_Silent_p.C744C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.C964C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	964					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.C964C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ACCGCTCTCCGCAAATAGGGC	0.498			T	PAX5	ALL																																p.C964C			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2892T	18						.						91.0	85.0	87.0					18																	22804990		2203	4300	6503	21058988	SO:0001819	synonymous_variant	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2892C>T	18.37:g.22804990G>A			21058988	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
THOC1	9984	broad.mit.edu	37	18	224148	224148	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:224148G>A	ENST00000261600.6	-	16	1247	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	414					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R414W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTTCTCTTCCGAATTATTCTC	0.373																																					p.R414W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1240T	18						.						103.0	95.0	98.0					18																	224148		1823	4083	5906	214148	SO:0001583	missense	9984	exon16			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1240C>T	18.37:g.224148G>A	ENSP00000261600:p.Arg414Trp		214148	NM_005131	B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375455	0.24857	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.63	2.7	0.31948	.	0.044427	0.85682	D	0.000000	T	0.60444	0.2269	M	0.78049	2.395	0.53688	D	0.999977	B	0.33477	0.413	B	0.21151	0.033	T	0.66874	-0.5813	9	0.87932	D	0	-5.4386	15.6568	0.77144	0.0:0.0:0.4317:0.5683	.	414	Q96FV9	THOC1_HUMAN	W	414	.	ENSP00000261600:R414W	R	-	1	2	THOC1	214148	0.993000	0.37304	0.776000	0.31678	0.782000	0.44232	1.574000	0.36482	0.684000	0.31448	0.585000	0.79938	CGG		0.373	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
ZNF521	25925	broad.mit.edu	37	18	22805549	22805549	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:22805549T>C	ENST00000361524.3	-	4	2481	c.2333A>G	c.(2332-2334)aAc>aGc	p.N778S	ZNF521_ENST00000584787.1_Missense_Mutation_p.N558S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.N778S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	778					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.N778S(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTTCCCTTGGTTTTCCAGGTG	0.483			T	PAX5	ALL																																p.N778S			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2333G	18						.						128.0	111.0	117.0					18																	22805549		2203	4300	6503	21059547	SO:0001583	missense	25925	exon4			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2333A>G	18.37:g.22805549T>C	ENSP00000354794:p.Asn778Ser		21059547	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402033	0.25291	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08546	3.08;3.1	6.17	6.17	0.99709	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.04018	-0.295	0.44214	D	0.997042	P	0.42409	0.779	B	0.42593	0.392	T	0.47522	-0.9111	10	0.52906	T	0.07	-41.4592	16.8222	0.85835	0.0:0.0:0.0:1.0	.	778	Q96K83	ZN521_HUMAN	S	778;812;778	ENSP00000354794:N778S;ENSP00000382352:N778S	ENSP00000354794:N778S	N	-	2	0	ZNF521	21059547	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	AAC		0.483	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
SS18	6760	broad.mit.edu	37	18	23615838	23615838	+	Silent	SNP	G	G	A	rs570531592		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:23615838G>A	ENST00000415083.2	-	8	985	c.930C>T	c.(928-930)taC>taT	p.Y310Y	SS18_ENST00000542743.1_Intron|SS18_ENST00000269137.7_Intron|SS18_ENST00000539849.1_Silent_p.Y228Y|SS18_ENST00000542420.2_Silent_p.Y287Y|SS18_ENST00000545952.1_Intron	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	310	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Y310Y(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					AAGGCCTATCGTAGCCTTGTT	0.408			T	"""SSX1,  SSX2"""	synovial sarcoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		15808	0.0		0.0	False		,,,				2504	0.001				p.Y310Y			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	18						.						140.0	100.0	114.0					18																	23615838		2203	4300	6503	21869836	SO:0001819	synonymous_variant	6760	exon8			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.930C>T	18.37:g.23615838G>A			21869836	NM_001007559	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	CCDS32807.1																																																																																				0.408	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1		
PSMA8	143471	broad.mit.edu	37	18	23772351	23772351	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:23772351G>T	ENST00000308268.6	+	7	836	c.747G>T	c.(745-747)aaG>aaT	p.K249N	PSMA8_ENST00000415576.2_Missense_Mutation_p.K243N|PSMA8_ENST00000343848.6_Missense_Mutation_p.K205N	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	249					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)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.K249N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAGCAGAGAAGAAAAAATCAA	0.299																																					p.K249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G747T	18						.						64.0	70.0	68.0					18																	23772351		2202	4299	6501	22026349	SO:0001583	missense	143471	exon7			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.747G>T	18.37:g.23772351G>T	ENSP00000311121:p.Lys249Asn		22026349	NM_144662	B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	ENST00000308268.6	37	CCDS32808.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696482	0.48202	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.33654	1.4;1.81;1.4	4.49	4.49	0.54785	.	0.258920	0.37483	N	0.002075	T	0.26340	0.0643	L	0.29908	0.895	0.58432	D	0.99999	B;B;B	0.21688	0.059;0.048;0.029	B;B;B	0.17722	0.014;0.016;0.019	T	0.04454	-1.0950	10	0.28530	T	0.3	-2.9449	12.9203	0.58228	0.0:0.0:1.0:0.0	.	249;243;205	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	N	249;243;205;205	ENSP00000311121:K249N;ENSP00000409284:K243N;ENSP00000345584:K205N	ENSP00000311121:K249N	K	+	3	2	PSMA8	22026349	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.914000	0.56401	2.518000	0.84900	0.650000	0.86243	AAG		0.299	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662	
TAF4B	6875	broad.mit.edu	37	18	23807038	23807038	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:23807038G>T	ENST00000269142.5	+	1	1139	c.141G>T	c.(139-141)aaG>aaT	p.K47N	TAF4B_ENST00000578121.1_Missense_Mutation_p.K47N|TAF4B_ENST00000400466.2_Missense_Mutation_p.K47N	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	47					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K47N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CCGTGACTAAGGCTCCTGTCA	0.741																																					p.K47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	18						.						13.0	15.0	15.0					18																	23807038		1909	4112	6021	22061036	SO:0001583	missense	6875	exon1			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.141G>T	18.37:g.23807038G>T	ENSP00000269142:p.Lys47Asn		22061036	NM_005640	Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126044	0.37533	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.77;1.76	5.05	2.29	0.28610	.	0.561366	0.12408	U	0.471514	T	0.24586	0.0596	N	0.19112	0.55	0.25376	N	0.988655	D;D	0.62365	0.991;0.991	P;P	0.58013	0.831;0.831	T	0.14144	-1.0483	10	0.17832	T	0.49	-5.319	7.0444	0.25038	0.2886:0.0:0.7114:0.0	.	47;47	Q92750;A4PBF7	TAF4B_HUMAN;.	N	47	ENSP00000389365:K47N;ENSP00000269142:K47N;ENSP00000383314:K47N	ENSP00000269142:K47N	K	+	3	2	TAF4B	22061036	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	2.049000	0.41288	0.178000	0.19917	-0.258000	0.10820	AAG		0.741	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	
CHST9	83539	broad.mit.edu	37	18	24496768	24496768	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:24496768G>T	ENST00000284224.8	-	6	1064	c.787C>A	c.(787-789)Cta>Ata	p.L263I	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.L263I	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	263					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.L178I(1)|p.L263I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATCCCTTTTAGGTCAAAGCTA	0.403																																					p.L263I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C787A	18						.						143.0	131.0	135.0					18																	24496768		1871	4099	5970	22750766	SO:0001583	missense	83539	exon6			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.787C>A	18.37:g.24496768G>T	ENSP00000284224:p.Leu263Ile		22750766	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	2.771	-0.255708	0.05829	.	.	ENSG00000154080	ENST00000284224	T	0.74002	-0.8	6.17	2.25	0.28309	.	0.000000	0.56097	D	0.000040	T	0.71143	0.3305	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.65129	-0.6243	10	0.19590	T	0.45	-7.9029	4.0848	0.09942	0.5204:0.0:0.3311:0.1485	.	263	Q7L1S5	CHST9_HUMAN	I	263	ENSP00000284224:L263I	ENSP00000284224:L263I	L	-	1	2	CHST9	22750766	0.940000	0.31905	1.000000	0.80357	0.175000	0.22909	0.404000	0.20999	0.184000	0.20083	-1.311000	0.01308	CTA		0.403	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
CHST9	83539	broad.mit.edu	37	18	24497154	24497154	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:24497154T>C	ENST00000284224.8	-	6	678	c.401A>G	c.(400-402)gAa>gGa	p.E134G	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.E134G	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	134					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.E134G(1)|p.E49G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTGACGTTTTTCAATCAACTT	0.388																																					p.E134G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A401G	18						.						286.0	261.0	269.0					18																	24497154		1883	4107	5990	22751152	SO:0001583	missense	83539	exon6			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.401A>G	18.37:g.24497154T>C	ENSP00000284224:p.Glu134Gly		22751152	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237232	0.39498	.	.	ENSG00000154080	ENST00000284224	T	0.68765	-0.35	6.17	2.42	0.29668	.	21.575300	0.00166	N	0.000000	T	0.55130	0.1901	L	0.27053	0.805	0.41747	D	0.989649	B	0.28713	0.22	B	0.24541	0.054	T	0.15752	-1.0426	10	0.33141	T	0.24	-18.05	7.9114	0.29793	0.0:0.0655:0.2595:0.675	.	134	Q7L1S5	CHST9_HUMAN	G	134	ENSP00000284224:E134G	ENSP00000284224:E134G	E	-	2	0	CHST9	22751152	0.024000	0.19004	0.110000	0.21437	0.014000	0.08584	0.169000	0.16641	0.180000	0.19960	0.533000	0.62120	GAA		0.388	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
THOC1	9984	broad.mit.edu	37	18	247929	247929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:247929G>A	ENST00000261600.6	-	10	713	c.706C>T	c.(706-708)Cga>Tga	p.R236*	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	236					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R236*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAGAATTTTCGATACAGGTTG	0.303																																					p.R236X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C706T	18						.						103.0	96.0	98.0					18																	247929		1802	4064	5866	237929	SO:0001587	stop_gained	9984	exon10			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.706C>T	18.37:g.247929G>A	ENSP00000261600:p.Arg236*		237929	NM_005131	B2RBP6|Q15219|Q64I72|Q64I73	Nonsense_Mutation	SNP	ENST00000261600.6	37	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634018	0.96682	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.38	-1.79	0.07932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-3.0747	17.6998	0.88291	0.0:0.0:0.1488:0.8512	.	.	.	.	X	236	.	ENSP00000261600:R236X	R	-	1	2	THOC1	237929	1.000000	0.71417	0.945000	0.38365	0.986000	0.74619	2.230000	0.42999	-0.166000	0.10890	-0.188000	0.12872	CGA		0.303	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131	
CDH2	1000	broad.mit.edu	37	18	25532153	25532153	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:25532153C>A	ENST00000269141.3	-	16	3108	c.2685G>T	c.(2683-2685)aaG>aaT	p.K895N	CDH2_ENST00000399380.3_Missense_Mutation_p.K864N|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	895					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.K895N(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGCAAGTTTCTTGAACCGTG	0.473																																					p.K895N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2685T	18						.						124.0	116.0	119.0					18																	25532153		2203	4300	6503	23786151	SO:0001583	missense	1000	exon16			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2685G>T	18.37:g.25532153C>A	ENSP00000269141:p.Lys895Asn		23786151	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332784	0.41297	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.78246	-1.16;-1.16	5.43	5.43	0.79202	Cadherin, cytoplasmic domain (1);	0.047806	0.85682	D	0.000000	D	0.87426	0.6174	M	0.67397	2.05	0.47737	D	0.9995	D;P	0.67145	0.996;0.801	D;B	0.72625	0.978;0.412	D	0.88175	0.2867	10	0.72032	D	0.01	.	19.2485	0.93913	0.0:1.0:0.0:0.0	.	864;895	A8MWK3;P19022	.;CADH2_HUMAN	N	895;864	ENSP00000269141:K895N;ENSP00000382312:K864N	ENSP00000269141:K895N	K	-	3	2	CDH2	23786151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.245000	0.43133	2.563000	0.86464	0.591000	0.81541	AAG		0.473	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CDH2	1000	broad.mit.edu	37	18	25565681	25565681	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:25565681G>T	ENST00000269141.3	-	12	2209	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	CDH2_ENST00000399380.3_Missense_Mutation_p.L565I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	596	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L596I(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTAATATCAAGTAAATAGATC	0.403																																					p.L596I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786A	18						.						86.0	89.0	88.0					18																	25565681		2203	4300	6503	23819679	SO:0001583	missense	1000	exon12			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1786C>A	18.37:g.25565681G>T	ENSP00000269141:p.Leu596Ile		23819679	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264491	0.23136	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61158	0.13;0.13	5.96	5.96	0.96718	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.064020	0.64402	D	0.000004	T	0.55577	0.1929	L	0.35249	1.045	0.58432	D	0.999995	B;B	0.29232	0.001;0.238	B;B	0.39299	0.009;0.296	T	0.45411	-0.9263	10	0.15952	T	0.53	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	565;596	A8MWK3;P19022	.;CADH2_HUMAN	I	596;565	ENSP00000269141:L596I;ENSP00000382312:L565I	ENSP00000269141:L596I	L	-	1	0	CDH2	23819679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.086000	0.64474	2.830000	0.97506	0.585000	0.79938	CTT		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
SMCHD1	23347	broad.mit.edu	37	18	2666177	2666177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2666177G>T	ENST00000320876.6	+	2	546	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.E70*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	70					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.E70*(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCACCTGAAGAAAAATTTGT	0.244																																					p.E70X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G208T	18						.						38.0	36.0	37.0					18																	2666177		1786	4047	5833	2656177	SO:0001587	stop_gained	23347	exon2			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.208G>T	18.37:g.2666177G>T	ENSP00000326603:p.Glu70*		2656177	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	40	8.527295	0.98850	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.46	5.46	0.80206	.	0.121159	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6691	0.95903	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000261598:E70X	E	+	1	0	SMCHD1	2656177	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.075000	0.89502	2.721000	0.93114	0.591000	0.81541	GAA		0.244	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
CDH2	1000	broad.mit.edu	37	18	25572744	25572744	+	Missense_Mutation	SNP	C	C	T	rs568089577		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:25572744C>T	ENST00000269141.3	-	9	1642	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	CDH2_ENST00000399380.3_Missense_Mutation_p.D376N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.D407N(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGATCCTTATCGGTCACAGTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18969	0.0		0.0	False		,,,				2504	0.0				p.D407N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1219A	18						.						235.0	180.0	199.0					18																	25572744		2203	4300	6503	23826742	SO:0001583	missense	1000	exon9			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1219G>A	18.37:g.25572744C>T	ENSP00000269141:p.Asp407Asn		23826742	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217785	0.79352	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.78003	-1.14;-1.14	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.93409	0.7898	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.95481	0.8560	10	0.87932	D	0	.	19.8453	0.96705	0.0:1.0:0.0:0.0	.	376;407	A8MWK3;P19022	.;CADH2_HUMAN	N	407;376	ENSP00000269141:D407N;ENSP00000382312:D376N	ENSP00000269141:D407N	D	-	1	0	CDH2	23826742	1.000000	0.71417	0.749000	0.31150	0.119000	0.20118	7.772000	0.85439	2.754000	0.94517	0.655000	0.94253	GAT		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
SMCHD1	23347	broad.mit.edu	37	18	2703718	2703718	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2703718T>G	ENST00000320876.6	+	13	2014	c.1676T>G	c.(1675-1677)tTt>tGt	p.F559C	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.F559C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	559					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.F559C(2)|p.F7C(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GACAGAGAATTTGCTTTGTGG	0.303																																					p.F559C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T1676G	18						.						66.0	67.0	67.0					18																	2703718		1817	4084	5901	2693718	SO:0001583	missense	23347	exon13			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1676T>G	18.37:g.2703718T>G	ENSP00000326603:p.Phe559Cys		2693718	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.212258	0.39102	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.36699	1.24;1.25	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	L	0.58101	1.795	0.47276	D	0.99937	D	0.89917	1.0	D	0.83275	0.996	T	0.60611	-0.7229	10	0.87932	D	0	-16.5938	15.6552	0.77129	0.0:0.0:0.0:1.0	.	559	A6NHR9	SMHD1_HUMAN	C	559	ENSP00000326603:F559C;ENSP00000261598:F559C	ENSP00000261598:F559C	F	+	2	0	SMCHD1	2693718	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.311000	0.78958	2.088000	0.63022	0.460000	0.39030	TTT		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSC3	1825	broad.mit.edu	37	18	28604320	28604320	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28604320C>A	ENST00000360428.4	-	6	850	c.770G>T	c.(769-771)aGa>aTa	p.R257I	DSC3_ENST00000434452.1_Missense_Mutation_p.R257I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	257	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R257I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTACCAGGTCTACTACTTTC	0.363																																					p.R257I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G770T	18						.						56.0	61.0	59.0					18																	28604320		2203	4300	6503	26858318	SO:0001583	missense	1825	exon6			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.770G>T	18.37:g.28604320C>A	ENSP00000353608:p.Arg257Ile		26858318	NM_001941	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595265	0.66219	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54479	0.57;0.57	4.94	0.595	0.17490	Cadherin (4);Cadherin-like (1);	0.218372	0.23312	N	0.049557	T	0.58047	0.2095	M	0.62209	1.925	0.53688	D	0.999972	B;P	0.52577	0.421;0.954	P;P	0.54270	0.515;0.747	T	0.58891	-0.7556	10	0.87932	D	0	.	9.4522	0.38734	0.0:0.6264:0.0:0.3736	.	257;257	Q14574;Q14574-2	DSC3_HUMAN;.	I	257	ENSP00000353608:R257I;ENSP00000392068:R257I	ENSP00000353608:R257I	R	-	2	0	DSC3	26858318	0.109000	0.22037	0.982000	0.44146	0.854000	0.48673	-0.098000	0.11024	0.046000	0.15833	0.655000	0.94253	AGA		0.363	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423	
DSG1	1828	broad.mit.edu	37	18	28906843	28906843	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28906843G>T	ENST00000257192.4	+	3	303	c.91G>T	c.(91-93)Gat>Tat	p.D31Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	31					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.D31Y(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAAGGTAAGAGATTATAACAC	0.353																																					p.D31Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91T	18						.						65.0	68.0	67.0					18																	28906843		2203	4298	6501	27160841	SO:0001583	missense	1828	exon3			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.91G>T	18.37:g.28906843G>T	ENSP00000257192:p.Asp31Tyr		27160841	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756575	0.69648	.	.	ENSG00000134760	ENST00000257192	T	0.59364	0.27	5.53	5.53	0.82687	.	0.098320	0.44097	D	0.000483	T	0.58352	0.2116	L	0.57536	1.79	0.80722	D	1	B	0.33345	0.409	B	0.34489	0.184	T	0.57418	-0.7815	10	0.39692	T	0.17	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	31	Q02413	DSG1_HUMAN	Y	31	ENSP00000257192:D31Y	ENSP00000257192:D31Y	D	+	1	0	DSG1	27160841	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.473000	0.73572	2.597000	0.87782	0.557000	0.71058	GAT		0.353	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG1	1828	broad.mit.edu	37	18	28906914	28906914	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28906914C>T	ENST00000257192.4	+	3	374	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.F54F(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGATCAAGTTCGCAGCAGCCT	0.393																																					p.F54F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	18						.						121.0	116.0	118.0					18																	28906914		2203	4300	6503	27160912	SO:0001819	synonymous_variant	1828	exon3			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.162C>T	18.37:g.28906914C>T			27160912	NM_001942	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.393	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG1	1828	broad.mit.edu	37	18	28914134	28914134	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28914134G>T	ENST00000257192.4	+	8	1186	c.974G>T	c.(973-975)aGa>aTa	p.R325I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.R325I(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAATGAAAGAACAAATGTG	0.269																																					p.R325I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974T	18						.						58.0	67.0	64.0					18																	28914134		2200	4292	6492	27168132	SO:0001583	missense	1828	exon8			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.974G>T	18.37:g.28914134G>T	ENSP00000257192:p.Arg325Ile		27168132	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568591	0.65651	.	.	ENSG00000134760	ENST00000257192	T	0.38401	1.14	5.67	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.261634	0.33631	N	0.004701	T	0.34395	0.0896	L	0.52573	1.65	0.80722	D	1	B	0.24721	0.11	B	0.32928	0.155	T	0.18650	-1.0330	10	0.44086	T	0.13	.	10.8657	0.46853	0.0:0.2851:0.6082:0.1067	.	325	Q02413	DSG1_HUMAN	I	325	ENSP00000257192:R325I	ENSP00000257192:R325I	R	+	2	0	DSG1	27168132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.078000	0.30754	2.668000	0.90789	0.563000	0.77884	AGA		0.269	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
SMCHD1	23347	broad.mit.edu	37	18	2729394	2729394	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2729394G>T	ENST00000320876.6	+	24	3373	c.3035G>T	c.(3034-3036)aGa>aTa	p.R1012I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1012I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1012					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1012I(2)|p.R460I(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTTAAAGCAAGAATTGAAATA	0.303																																					p.R1012I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3035T	18						.						39.0	37.0	37.0					18																	2729394		1791	4036	5827	2719394	SO:0001583	missense	23347	exon24			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3035G>T	18.37:g.2729394G>T	ENSP00000326603:p.Arg1012Ile		2719394	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659344	0.47467	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24538	1.85;1.85	5.69	3.47	0.39725	.	0.288695	0.38058	N	0.001839	T	0.15089	0.0364	N	0.22421	0.69	0.49389	D	0.999785	B	0.31009	0.303	B	0.28553	0.091	T	0.07083	-1.0791	10	0.87932	D	0	-15.3312	6.2936	0.21073	0.5735:0.0:0.4265:0.0	.	1012	A6NHR9	SMHD1_HUMAN	I	1012	ENSP00000326603:R1012I;ENSP00000261598:R1012I	ENSP00000261598:R1012I	R	+	2	0	SMCHD1	2719394	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.095000	0.30964	1.238000	0.43771	0.655000	0.94253	AGA		0.303	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG1	1828	broad.mit.edu	37	18	28934568	28934568	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28934568C>T	ENST00000257192.4	+	15	2621	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.F162F|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	803					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.F803F(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCCCACATTTCGGCACTACCA	0.512																																					p.F803F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2409T	18						.						117.0	107.0	111.0					18																	28934568		2203	4300	6503	27188566	SO:0001819	synonymous_variant	1828	exon15			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2409C>T	18.37:g.28934568C>T			27188566	NM_001942	B7Z845	Silent	SNP	ENST00000257192.4	37	CCDS11896.1																																																																																				0.512	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG4	147409	broad.mit.edu	37	18	28968333	28968333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28968333C>T	ENST00000308128.4	+	4	355	c.220C>T	c.(220-222)Cga>Tga	p.R74*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Nonsense_Mutation_p.R74*|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R74*(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATAGATTCGATCAGACTG	0.418																																					p.R74X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C220T	18						.						63.0	56.0	58.0					18																	28968333		2203	4299	6502	27222331	SO:0001587	stop_gained	147409	exon4			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.220C>T	18.37:g.28968333C>T	ENSP00000311859:p.Arg74*		27222331	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Nonsense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	37	6.336440	0.97485	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.73	4.84	0.62591	.	0.000000	0.30101	N	0.010401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0555	0.64767	0.1557:0.8443:0.0:0.0	.	.	.	.	X	74	.	ENSP00000311859:R74X	R	+	1	2	DSG4	27222331	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.756000	0.55205	1.361000	0.45981	0.650000	0.86243	CGA		0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	rs369555342		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28968937C>T	ENST00000308128.4	+	5	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413																																					p.S158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	18						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	104.0	100.0	101.0		473,473	6.1	0.8	18		101	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	158/1060,158/1041	28968937	1,13003	2203	4299	6502	27222935	SO:0001583	missense	147409	exon5			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.473C>T	18.37:g.28968937C>T	ENSP00000311859:p.Ser158Leu		27222935	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263611	0.59431	0.0	1.16E-4	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Cadherin (3);Cadherin-like (1);	0.242046	0.21442	N	0.074461	T	0.56108	0.1963	M	0.69463	2.115	0.32283	N	0.567384	P;P	0.43431	0.807;0.549	B;B	0.36244	0.22;0.158	T	0.64698	-0.6346	10	0.25106	T	0.35	.	18.9147	0.92501	0.0:1.0:0.0:0.0	.	158;158	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	158	ENSP00000311859:S158L;ENSP00000352785:S158L	ENSP00000311859:S158L	S	+	2	0	DSG4	27222935	1.000000	0.71417	0.836000	0.33094	0.845000	0.48019	6.096000	0.71446	2.906000	0.99361	0.655000	0.94253	TCG		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
SMCHD1	23347	broad.mit.edu	37	18	2740755	2740755	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2740755C>A	ENST00000320876.6	+	28	3907	c.3569C>A	c.(3568-3570)tCt>tAt	p.S1190Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1190Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1190					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1190Y(2)|p.S638Y(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCACCAAGTTCTTTATCTTCT	0.308																																					p.S1190Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3569A	18						.						126.0	124.0	125.0					18																	2740755		1805	4055	5860	2730755	SO:0001583	missense	23347	exon28			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3569C>A	18.37:g.2740755C>A	ENSP00000326603:p.Ser1190Tyr		2730755	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498549	0.44455	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25579	1.79;1.79	5.33	2.12	0.27331	.	0.270105	0.42964	D	0.000632	T	0.19967	0.0480	L	0.29908	0.895	0.32214	N	0.576118	P	0.34462	0.454	B	0.37833	0.259	T	0.23368	-1.0190	10	0.62326	D	0.03	-5.7224	10.263	0.43438	0.1132:0.3447:0.5421:0.0	.	1190	A6NHR9	SMHD1_HUMAN	Y	1190	ENSP00000326603:S1190Y;ENSP00000261598:S1190Y	ENSP00000261598:S1190Y	S	+	2	0	SMCHD1	2730755	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.859000	0.39418	0.676000	0.31285	0.650000	0.86243	TCT		0.308	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMCHD1	23347	broad.mit.edu	37	18	2743906	2743906	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2743906G>T	ENST00000320876.6	+	29	4119	c.3781G>T	c.(3781-3783)Gac>Tac	p.D1261Y	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.D1261Y	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1261					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.D1261Y(2)|p.D709Y(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTCCTTATAGACTGGCCAGA	0.373																																					p.D1261Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3781T	18						.						74.0	66.0	69.0					18																	2743906		1825	4083	5908	2733906	SO:0001583	missense	23347	exon29			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3781G>T	18.37:g.2743906G>T	ENSP00000326603:p.Asp1261Tyr		2733906	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580204	0.46006	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26957	1.7;1.71	5.26	4.19	0.49359	.	0.210441	0.48767	D	0.000162	T	0.31606	0.0802	L	0.56769	1.78	0.37464	D	0.915341	P	0.47350	0.894	P	0.45037	0.467	T	0.41016	-0.9532	10	0.72032	D	0.01	-11.6145	14.4521	0.67392	0.0857:0.0:0.9143:0.0	.	1261	A6NHR9	SMHD1_HUMAN	Y	1261	ENSP00000326603:D1261Y;ENSP00000261598:D1261Y	ENSP00000261598:D1261Y	D	+	1	0	SMCHD1	2733906	1.000000	0.71417	0.955000	0.39395	0.946000	0.59487	5.007000	0.63984	2.425000	0.82216	0.585000	0.79938	GAC		0.373	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
SMCHD1	23347	broad.mit.edu	37	18	2772321	2772321	+	Missense_Mutation	SNP	C	C	T	rs151311806	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2772321C>T	ENST00000320876.6	+	41	5464	c.5126C>T	c.(5125-5127)tCg>tTg	p.S1709L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1709L|snoU13_ENST00000459147.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1709					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1709L(2)|p.S1157L(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCTAGAAGATCGTGTACTCTT	0.323													C|||	2	0.000399361	0.0	0.0	5008	,	,		16917	0.002		0.0	False		,,,				2504	0.0				p.S1709L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5126T	18						.						93.0	88.0	90.0					18																	2772321		1827	4075	5902	2762321	SO:0001583	missense	23347	exon41			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5126C>T	18.37:g.2772321C>T	ENSP00000326603:p.Ser1709Leu		2762321	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	11.39	1.625613	0.28889	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.84298	-1.83;-1.83	5.66	4.78	0.61160	SMCs flexible hinge (1);	0.582255	0.16598	N	0.207443	T	0.67961	0.2949	N	0.16478	0.41	0.27380	N	0.955433	B	0.14438	0.01	B	0.04013	0.001	T	0.58126	-0.7691	10	0.23891	T	0.37	-5.6632	13.7173	0.62705	0.0:0.9251:0.0:0.0749	.	1709	A6NHR9	SMHD1_HUMAN	L	1709	ENSP00000326603:S1709L;ENSP00000261598:S1709L	ENSP00000261598:S1709L	S	+	2	0	SMCHD1	2762321	0.991000	0.36638	1.000000	0.80357	0.987000	0.75469	1.644000	0.37228	1.372000	0.46190	0.563000	0.77884	TCG		0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG4	147409	broad.mit.edu	37	18	28972152	28972152	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:28972152C>T	ENST00000308128.4	+	8	989	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S285L|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S285L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGTTTAAGTTCGGAACTGATA	0.338																																					p.S285L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C854T	18						.						115.0	115.0	115.0					18																	28972152		2203	4300	6503	27226150	SO:0001583	missense	147409	exon8			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.854C>T	18.37:g.28972152C>T	ENSP00000311859:p.Ser285Leu		27226150	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508014	0.64410	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.53206	0.63;0.63	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.000000	0.29239	N	0.012727	T	0.66307	0.2776	M	0.86502	2.82	0.30830	N	0.736843	P;D	0.57571	0.797;0.98	P;P	0.55667	0.521;0.781	T	0.72475	-0.4282	10	0.51188	T	0.08	.	13.6419	0.62255	0.1543:0.8457:0.0:0.0	.	285;285	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	285	ENSP00000311859:S285L;ENSP00000352785:S285L	ENSP00000311859:S285L	S	+	2	0	DSG4	27226150	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.129000	0.50500	2.721000	0.93114	0.655000	0.94253	TCG		0.338	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
TRAPPC8	22878	broad.mit.edu	37	18	29429636	29429636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29429636G>T	ENST00000283351.4	-	25	3963	c.3628C>A	c.(3628-3630)Cca>Aca	p.P1210T	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1156T	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1210					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.P1210T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGCTTGTGGTTTTTTCAAT	0.348																																					p.P1210T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3628A	18						.						96.0	90.0	92.0					18																	29429636		2203	4300	6503	27683634	SO:0001583	missense	22878	exon25			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3628C>A	18.37:g.29429636G>T	ENSP00000283351:p.Pro1210Thr		27683634	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	4.853	0.158513	0.09236	.	.	ENSG00000153339	ENST00000283351	T	0.16743	2.32	5.57	-2.57	0.06248	.	1.181700	0.05698	N	0.593509	T	0.05135	0.0137	N	0.01874	-0.695	0.36324	D	0.858422	B	0.02656	0.0	B	0.06405	0.002	T	0.47623	-0.9103	10	0.12766	T	0.61	.	4.4232	0.11490	0.1433:0.0869:0.1649:0.6049	.	1210	Q9Y2L5	TPPC8_HUMAN	T	1210	ENSP00000283351:P1210T	ENSP00000283351:P1210T	P	-	1	0	TRAPPC8	27683634	0.852000	0.29690	0.153000	0.22517	0.420000	0.31355	0.265000	0.18515	-0.016000	0.14127	-0.182000	0.12963	CCA		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
SMCHD1	23347	broad.mit.edu	37	18	2784502	2784502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2784502C>T	ENST00000320876.6	+	45	5940	c.5602C>T	c.(5602-5604)Cga>Tga	p.R1868*	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.R1868*	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1868					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1868*(2)|p.R1316*(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGATCGAATTCGAAGTAATGG	0.398																																					p.R1868X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C5602T	18						.						47.0	45.0	46.0					18																	2784502		1818	4077	5895	2774502	SO:0001587	stop_gained	23347	exon45			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5602C>T	18.37:g.2784502C>T	ENSP00000326603:p.Arg1868*		2774502	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	47	13.206972	0.99727	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.29	3.37	0.38596	.	0.062950	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.969	13.9592	0.64168	0.284:0.716:0.0:0.0	.	.	.	.	X	1868	.	ENSP00000261598:R1868X	R	+	1	2	SMCHD1	2774502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.898000	0.39809	1.148000	0.42385	0.591000	0.81541	CGA		0.398	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
TRAPPC8	22878	broad.mit.edu	37	18	29488855	29488855	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29488855C>A	ENST00000283351.4	-	7	1319	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.K274N|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.K328N	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	328					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.K328N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATTTCCTTTCTTTGTTTCAT	0.398																																					p.K328N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G984T	18						.						100.0	88.0	92.0					18																	29488855		2203	4300	6503	27742853	SO:0001583	missense	22878	exon7			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.984G>T	18.37:g.29488855C>A	ENSP00000283351:p.Lys328Asn		27742853	NM_014939	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881726	0.33255	.	.	ENSG00000153339	ENST00000283351	T	0.08370	3.1	5.83	2.67	0.31697	.	0.127642	0.51477	D	0.000092	T	0.05135	0.0137	N	0.14661	0.345	0.48087	D	0.999581	B;P	0.36282	0.009;0.546	B;B	0.36608	0.013;0.229	T	0.50474	-0.8824	10	0.17832	T	0.49	.	12.1679	0.54141	0.0:0.7835:0.0:0.2165	.	328;328	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	N	328	ENSP00000283351:K328N	ENSP00000283351:K328N	K	-	3	2	TRAPPC8	27742853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.661000	0.25023	0.818000	0.34468	0.655000	0.94253	AAG		0.398	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
GAREM	64762	broad.mit.edu	37	18	29848074	29848074	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29848074G>A	ENST00000269209.6	-	6	2394	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	GAREM_ENST00000399218.4_Silent_p.G796G			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	797					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.G796G(2)									GGGAACCGTCGCCACAGGATC	0.517																																					p.G796G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C2388T	18						.						36.0	34.0	35.0					18																	29848074		2203	4300	6503	28102072	SO:0001819	synonymous_variant	64762	exon6			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2391C>T	18.37:g.29848074G>A			28102072	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	CCDS56057.1																																																																																				0.517	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
GAREM	64762	broad.mit.edu	37	18	29867850	29867850	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29867850C>T	ENST00000269209.6	-	4	713	c.710G>A	c.(709-711)cGc>cAc	p.R237H	GAREM_ENST00000399218.4_Missense_Mutation_p.R237H|GAREM_ENST00000578619.1_5'UTR|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	237	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.R237H(1)									CACAATGTTGCGGATGGTGTG	0.552																																					p.R237H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	18						.						173.0	144.0	154.0					18																	29867850		2203	4300	6503	28121848	SO:0001583	missense	64762	exon4			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.710G>A	18.37:g.29867850C>T	ENSP00000269209:p.Arg237His		28121848	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096815	0.94197	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15017	2.46;2.46	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.30966	-0.9960	10	0.87932	D	0	-27.9758	20.0679	0.97707	0.0:1.0:0.0:0.0	.	237;237	Q9H706;Q9H706-3	FA59A_HUMAN;.	H	237	ENSP00000382165:R237H;ENSP00000269209:R237H	ENSP00000269209:R237H	R	-	2	0	FAM59A	28121848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.821000	0.97095	0.561000	0.74099	CGC		0.552	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
GAREM	64762	broad.mit.edu	37	18	29890253	29890253	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29890253A>G	ENST00000269209.6	-	3	299	c.296T>C	c.(295-297)aTa>aCa	p.I99T	GAREM_ENST00000399218.4_Missense_Mutation_p.I99T|GAREM_ENST00000578619.1_5'UTR			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	99	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.I99T(1)									TGGCTCCTTTATATCTCGGTC	0.443																																					p.I99T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T296C	18						.						204.0	182.0	190.0					18																	29890253		2203	4300	6503	28144251	SO:0001583	missense	64762	exon3			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.296T>C	18.37:g.29890253A>G	ENSP00000269209:p.Ile99Thr		28144251	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593518	0.86953	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.76	5.76	0.90799	.	0.044856	0.85682	D	0.000000	T	0.30230	0.0758	L	0.36672	1.1	0.58432	D	0.999999	D;P	0.56968	0.978;0.778	P;P	0.60236	0.871;0.501	T	0.01748	-1.1282	10	0.87932	D	0	-13.358	16.066	0.80870	1.0:0.0:0.0:0.0	.	99;99	Q9H706;Q9H706-3	FA59A_HUMAN;.	T	99	ENSP00000382165:I99T;ENSP00000269209:I99T	ENSP00000269209:I99T	I	-	2	0	FAM59A	28144251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.878000	0.92393	2.200000	0.70718	0.533000	0.62120	ATA		0.443	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
GAREM	64762	broad.mit.edu	37	18	29972974	29972974	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:29972974T>A	ENST00000269209.6	-	2	149	c.146A>T	c.(145-147)gAa>gTa	p.E49V	GAREM_ENST00000399218.4_Missense_Mutation_p.E49V			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	49	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.E49V(1)									ATAGTCATTTTCCCGCAGCCC	0.423																																					p.E49V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A146T	18						.						126.0	109.0	114.0					18																	29972974		2203	4300	6503	28226972	SO:0001583	missense	64762	exon2			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.146A>T	18.37:g.29972974T>A	ENSP00000269209:p.Glu49Val		28226972	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.981692	0.93044	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.14391	2.51;2.51	5.94	5.94	0.96194	.	0.107642	0.64402	D	0.000009	T	0.32763	0.0840	L	0.60455	1.87	0.80722	D	1	D;P	0.62365	0.991;0.81	P;P	0.62089	0.898;0.635	T	0.01692	-1.1294	10	0.87932	D	0	-24.162	16.3871	0.83514	0.0:0.0:0.0:1.0	.	49;49	Q9H706;Q9H706-3	FA59A_HUMAN;.	V	49	ENSP00000382165:E49V;ENSP00000269209:E49V	ENSP00000269209:E49V	E	-	2	0	FAM59A	28226972	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.671000	0.83941	2.276000	0.75962	0.533000	0.62120	GAA		0.423	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
EMILIN2	84034	broad.mit.edu	37	18	2891141	2891141	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2891141A>T	ENST00000254528.3	+	4	1175	c.1016A>T	c.(1015-1017)gAc>gTc	p.D339V		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	339					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.D339V(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGCTGGCTGACCTGAAAAAC	0.527																																					p.D339V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1016T	18						.						107.0	110.0	109.0					18																	2891141		2203	4300	6503	2881141	SO:0001583	missense	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1016A>T	18.37:g.2891141A>T	ENSP00000254528:p.Asp339Val		2881141	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274571	0.80580	.	.	ENSG00000132205	ENST00000254528	T	0.37235	1.21	5.41	5.41	0.78517	.	0.140304	0.48286	D	0.000188	T	0.57021	0.2025	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.56595	-0.7953	10	0.40728	T	0.16	-35.5446	15.4491	0.75259	1.0:0.0:0.0:0.0	.	339	Q9BXX0	EMIL2_HUMAN	V	339	ENSP00000254528:D339V	ENSP00000254528:D339V	D	+	2	0	EMILIN2	2881141	1.000000	0.71417	0.907000	0.35723	0.973000	0.67179	8.957000	0.93082	2.039000	0.60335	0.455000	0.32223	GAC		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
EMILIN2	84034	broad.mit.edu	37	18	2891316	2891316	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2891316C>T	ENST00000254528.3	+	4	1350	c.1191C>T	c.(1189-1191)tgC>tgT	p.C397C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	397					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.C397C(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAAATTGCTGCGACAGTGAAA	0.478																																					p.C397C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1191T	18						.						50.0	53.0	52.0					18																	2891316		2202	4299	6501	2881316	SO:0001819	synonymous_variant	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1191C>T	18.37:g.2891316C>T			2881316	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	CCDS11828.1																																																																																				0.478	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
EMILIN2	84034	broad.mit.edu	37	18	2891551	2891551	+	Missense_Mutation	SNP	C	C	T	rs546388595	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2891551C>T	ENST00000254528.3	+	4	1585	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	476					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R476W(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGAAACCCTTCGGGGCGCCAT	0.463													C|||	3	0.000599042	0.0	0.0014	5008	,	,		21889	0.0		0.0	False		,,,				2504	0.002				p.R476W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1426T	18						.						87.0	96.0	93.0					18																	2891551		2203	4300	6503	2881551	SO:0001583	missense	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1426C>T	18.37:g.2891551C>T	ENSP00000254528:p.Arg476Trp		2881551	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801904	0.50315	.	.	ENSG00000132205	ENST00000254528	T	0.03689	3.84	5.4	4.52	0.55395	.	0.000000	0.64402	D	0.000007	T	0.14614	0.0353	M	0.62723	1.935	0.21527	N	0.999655	D	0.89917	1.0	D	0.76575	0.988	T	0.01935	-1.1244	10	0.54805	T	0.06	-39.8923	13.2759	0.60188	0.2884:0.7116:0.0:0.0	.	476	Q9BXX0	EMIL2_HUMAN	W	476	ENSP00000254528:R476W	ENSP00000254528:R476W	R	+	1	2	EMILIN2	2881551	0.045000	0.20229	0.866000	0.34008	0.642000	0.38348	0.473000	0.22132	1.242000	0.43836	0.563000	0.77884	CGG		0.463	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
EMILIN2	84034	broad.mit.edu	37	18	2891956	2891956	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2891956C>A	ENST00000254528.3	+	4	1990	c.1831C>A	c.(1831-1833)Ctt>Att	p.L611I		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	611					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L611I(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTTTAGTTTTCTTTATTCTCA	0.408																																					p.L611I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1831A	18						.						49.0	52.0	51.0					18																	2891956		2203	4300	6503	2881956	SO:0001583	missense	84034	exon4			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1831C>A	18.37:g.2891956C>A	ENSP00000254528:p.Leu611Ile		2881956	NM_032048	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	3.270	-0.149246	0.06585	.	.	ENSG00000132205	ENST00000254528	T	0.21932	1.98	4.9	2.88	0.33553	.	0.512935	0.18951	N	0.126689	T	0.22244	0.0536	L	0.53729	1.69	0.09310	N	1	P	0.51351	0.944	P	0.48770	0.589	T	0.08207	-1.0733	10	0.38643	T	0.18	-17.1997	4.4021	0.11392	0.2338:0.5553:0.1282:0.0827	.	611	Q9BXX0	EMIL2_HUMAN	I	611	ENSP00000254528:L611I	ENSP00000254528:L611I	L	+	1	0	EMILIN2	2881956	0.013000	0.17824	0.047000	0.18901	0.229000	0.25112	0.239000	0.18023	2.268000	0.75426	0.462000	0.41574	CTT		0.408	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
CCDC178	374864	broad.mit.edu	37	18	30554573	30554573	+	Missense_Mutation	SNP	T	T	C	rs142622043		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:30554573T>C	ENST00000383096.3	-	22	2643	c.2461A>G	c.(2461-2463)Atg>Gtg	p.M821V	CCDC178_ENST00000583930.1_Missense_Mutation_p.M845V|CCDC178_ENST00000300227.8_Missense_Mutation_p.M783V|CCDC178_ENST00000579916.1_Missense_Mutation_p.M141V|CCDC178_ENST00000579947.1_Missense_Mutation_p.M821V|CCDC178_ENST00000406524.2_Missense_Mutation_p.M845V|CCDC178_ENST00000402325.1_Missense_Mutation_p.M771V|CCDC178_ENST00000403303.1_Missense_Mutation_p.M821V|CCDC178_ENST00000581852.1_Missense_Mutation_p.M26V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	821								p.M783V(1)|p.M821V(1)									GCCAGCCTCATCTGGCTGAAG	0.493													T|||	1	0.000199681	0.0	0.0	5008	,	,		16369	0.001		0.0	False		,,,				2504	0.0				p.M783V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2347G	18						.						66.0	61.0	63.0					18																	30554573		2203	4300	6503	28808571	SO:0001583	missense	374864	exon21			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2461A>G	18.37:g.30554573T>C	ENSP00000372576:p.Met821Val		28808571	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	7.057	0.565649	0.13560	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.14266	2.57;2.57;2.58;2.52;2.57	5.5	0.498	0.16908	.	.	.	.	.	T	0.08891	0.0220	L	0.36672	1.1	0.21147	N	0.99977	B;B;B;B;B;B	0.21606	0.058;0.005;0.058;0.058;0.058;0.058	B;B;B;B;B;B	0.16289	0.015;0.004;0.015;0.015;0.009;0.009	T	0.34576	-0.9823	9	0.31617	T	0.26	-3.0837	3.3455	0.07133	0.1799:0.379:0.0:0.4411	.	845;821;771;821;783;821	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	V	821;821;783;845;771	ENSP00000385591:M821V;ENSP00000372576:M821V;ENSP00000300227:M783V;ENSP00000385867:M845V;ENSP00000385234:M771V	ENSP00000300227:M783V	M	-	1	0	C18orf34	28808571	0.602000	0.26916	0.166000	0.22797	0.988000	0.76386	1.884000	0.39668	0.358000	0.24211	0.460000	0.39030	ATG		0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
CCDC178	374864	broad.mit.edu	37	18	30803114	30803114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:30803114G>A	ENST00000383096.3	-	18	2070	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	CCDC178_ENST00000583930.1_Nonsense_Mutation_p.R630*|CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.R630*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.R630*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.R630*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.R630*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	630								p.R630*(1)									CCCTTTTTTCGTAATTTTTTC	0.289																																					p.R630X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1888T	18						.						125.0	116.0	118.0					18																	30803114		1798	4064	5862	29057112	SO:0001587	stop_gained	374864	exon17			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1888C>T	18.37:g.30803114G>A	ENSP00000372576:p.Arg630*		29057112	NM_001105528	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620644	0.96660	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000406524;ENST00000402325	.	.	.	4.87	-3.73	0.04398	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	1.9035	10.261	0.43427	0.0:0.2174:0.2274:0.5552	.	.	.	.	X	630	.	ENSP00000372576:R630X	R	-	1	2	C18orf34	29057112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.220000	0.09215	-0.906000	0.03866	-1.036000	0.02392	CGA		0.289	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
LPIN2	9663	broad.mit.edu	37	18	2921588	2921588	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:2921588C>A	ENST00000261596.4	-	18	2623	c.2385G>T	c.(2383-2385)aaG>aaT	p.K795N	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	795	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.K795N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAACAGATTCTTGATATCAT	0.398																																					p.K795N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2385T	18						.						122.0	119.0	120.0					18																	2921588		2203	4300	6503	2911588	SO:0001583	missense	9663	exon18			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2385G>T	18.37:g.2921588C>A	ENSP00000261596:p.Lys795Asn		2911588	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562563	0.65538	.	.	ENSG00000101577	ENST00000261596	T	0.77620	-1.11	5.56	3.71	0.42584	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.044645	0.85682	D	0.000000	D	0.84474	0.5480	M	0.80616	2.505	0.58432	D	0.999997	D	0.63046	0.992	D	0.65773	0.938	D	0.83950	0.0316	10	0.59425	D	0.04	.	5.3671	0.16119	0.1434:0.6403:0.0:0.2163	.	795	Q92539	LPIN2_HUMAN	N	795	ENSP00000261596:K795N	ENSP00000261596:K795N	K	-	3	2	LPIN2	2911588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.763000	0.55257	1.352000	0.45808	0.563000	0.77884	AAG		0.398	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	
CCDC178	374864	broad.mit.edu	37	18	30825366	30825366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:30825366G>T	ENST00000383096.3	-	15	1618	c.1436C>A	c.(1435-1437)tCt>tAt	p.S479Y	CCDC178_ENST00000583930.1_Missense_Mutation_p.S479Y|CCDC178_ENST00000300227.8_Missense_Mutation_p.S479Y|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.S479Y|CCDC178_ENST00000406524.2_Missense_Mutation_p.S479Y|CCDC178_ENST00000402325.1_Missense_Mutation_p.S479Y|CCDC178_ENST00000403303.1_Missense_Mutation_p.S479Y			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	479								p.S479Y(1)									TTTTATTTCAGATTCGTATTT	0.264																																					p.S479Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1436A	18						.						84.0	76.0	79.0					18																	30825366		2202	4297	6499	29079364	SO:0001583	missense	374864	exon15			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1436C>A	18.37:g.30825366G>T	ENSP00000372576:p.Ser479Tyr		29079364	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	4.945	0.175491	0.09391	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	4.75	0.418	0.16429	.	.	.	.	.	T	0.35158	0.0922	L	0.48642	1.525	0.09310	N	1	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	T	0.15636	-1.0430	9	0.62326	D	0.03	0.6779	5.5916	0.17303	0.0981:0.0:0.3722:0.5297	.	479;479;479;479	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	Y	479	ENSP00000385591:S479Y;ENSP00000372576:S479Y;ENSP00000300227:S479Y;ENSP00000385867:S479Y;ENSP00000385234:S479Y	ENSP00000300227:S479Y	S	-	2	0	C18orf34	29079364	0.012000	0.17670	0.020000	0.16555	0.010000	0.07245	0.120000	0.15647	0.257000	0.21650	0.563000	0.77884	TCT		0.264	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
CCDC178	374864	broad.mit.edu	37	18	30873182	30873182	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:30873182T>C	ENST00000383096.3	-	12	1299	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A	CCDC178_ENST00000583930.1_Missense_Mutation_p.T373A|CCDC178_ENST00000300227.8_Missense_Mutation_p.T373A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.T373A|CCDC178_ENST00000406524.2_Missense_Mutation_p.T373A|CCDC178_ENST00000402325.1_Missense_Mutation_p.T373A|CCDC178_ENST00000403303.1_Missense_Mutation_p.T373A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	373								p.T373A(1)									ATTGCTTCAGTCACTTCCTCT	0.294																																					p.T373A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1117G	18						.						121.0	115.0	117.0					18																	30873182		2200	4296	6496	29127180	SO:0001583	missense	374864	exon12			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1117A>G	18.37:g.30873182T>C	ENSP00000372576:p.Thr373Ala		29127180	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	5.834	0.338065	0.11013	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	3.59	2.4	0.29515	.	.	.	.	.	T	0.30008	0.0751	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.30634	0.229;0.288;0.288;0.288	B;B;B;B	0.30572	0.117;0.05;0.05;0.05	T	0.17806	-1.0357	9	0.22706	T	0.39	-1.3273	6.274	0.20971	0.2214:0.0:0.0:0.7786	.	373;373;373;373	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	A	373	ENSP00000385591:T373A;ENSP00000372576:T373A;ENSP00000300227:T373A;ENSP00000385867:T373A;ENSP00000385234:T373A	ENSP00000300227:T373A	T	-	1	0	C18orf34	29127180	0.001000	0.12720	0.009000	0.14445	0.060000	0.15804	0.564000	0.23563	0.712000	0.32039	-0.723000	0.03601	ACT		0.294	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
ASXL3	80816	broad.mit.edu	37	18	31318781	31318781	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31318781G>T	ENST00000269197.5	+	11	1413	c.1413G>T	c.(1411-1413)aaG>aaT	p.K471N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	471					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.K178N(1)|p.K471N(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAATCATAAGACAATACCTG	0.398																																					p.K471N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1413T	18						.						54.0	55.0	55.0					18																	31318781		1860	4086	5946	29572779	SO:0001583	missense	80816	exon11			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1413G>T	18.37:g.31318781G>T	ENSP00000269197:p.Lys471Asn		29572779	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	g	10.78	1.445956	0.25987	.	.	ENSG00000141431	ENST00000269197	T	0.21361	2.01	5.2	2.38	0.29361	.	1.365760	0.04677	N	0.411675	T	0.20373	0.0490	M	0.61703	1.905	0.25752	N	0.985048	P	0.43477	0.808	B	0.33454	0.164	T	0.28299	-1.0048	10	0.34782	T	0.22	.	6.8378	0.23945	0.264:0.1222:0.6138:0.0	.	471	Q9C0F0	ASXL3_HUMAN	N	471	ENSP00000269197:K471N	ENSP00000269197:K471N	K	+	3	2	ASXL3	29572779	0.997000	0.39634	0.993000	0.49108	0.943000	0.58893	1.403000	0.34612	0.275000	0.22094	-0.349000	0.07799	AAG		0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31319022	31319022	+	Missense_Mutation	SNP	C	C	A	rs200334892	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31319022C>A	ENST00000269197.5	+	11	1654	c.1654C>A	c.(1654-1656)Cat>Aat	p.H552N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H552N(1)|p.H259N(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTATGACTCATGTCAGTGA	0.423																																					p.H552N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1654A	18						.						71.0	68.0	69.0					18																	31319022		1934	4148	6082	29573020	SO:0001583	missense	80816	exon11			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1654C>A	18.37:g.31319022C>A	ENSP00000269197:p.His552Asn		29573020	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304963	0.23736	.	.	ENSG00000141431	ENST00000269197	T	0.13778	2.56	5.47	3.24	0.37175	.	1.046090	0.07418	N	0.893518	T	0.09949	0.0244	L	0.36672	1.1	0.25061	N	0.991062	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.22706	T	0.39	.	1.9948	0.03454	0.293:0.447:0.0:0.2601	.	552	Q9C0F0	ASXL3_HUMAN	N	552	ENSP00000269197:H552N	ENSP00000269197:H552N	H	+	1	0	ASXL3	29573020	0.987000	0.35691	0.965000	0.40720	0.919000	0.55068	2.027000	0.41078	1.393000	0.46605	0.467000	0.42956	CAT		0.423	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31319778	31319778	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31319778C>A	ENST00000269197.5	+	11	2410	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	804					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.L804M(1)|p.L511M(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAGAAGAATCTGTCTAATAC	0.483																																					p.L804M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2410A	18						.						40.0	40.0	40.0					18																	31319778		1916	4120	6036	29573776	SO:0001583	missense	80816	exon11			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2410C>A	18.37:g.31319778C>A	ENSP00000269197:p.Leu804Met		29573776	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868719	0.17322	.	.	ENSG00000141431	ENST00000269197	T	0.15372	2.43	6.04	2.07	0.26955	.	1.053760	0.07466	N	0.901455	T	0.11965	0.0291	L	0.27053	0.805	0.09310	N	1	P	0.46395	0.877	B	0.41723	0.365	T	0.21348	-1.0248	10	0.33141	T	0.24	.	4.7008	0.12827	0.1262:0.6177:0.1219:0.1342	.	804	Q9C0F0	ASXL3_HUMAN	M	804	ENSP00000269197:L804M	ENSP00000269197:L804M	L	+	1	2	ASXL3	29573776	0.000000	0.05858	0.202000	0.23494	0.078000	0.17371	0.139000	0.16036	0.430000	0.26230	0.563000	0.77884	CTG		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31325280	31325280	+	Missense_Mutation	SNP	G	G	A	rs201071954		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31325280G>A	ENST00000269197.5	+	12	5468	c.5468G>A	c.(5467-5469)cGa>cAa	p.R1823Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1823					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.R1823Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGAGAAAGCGAGAAAACCAC	0.478													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19881	0.0		0.0	False		,,,				2504	0.0				p.R1823Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5468A	18						.						142.0	143.0	143.0					18																	31325280		1927	4124	6051	29579278	SO:0001583	missense	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5468G>A	18.37:g.31325280G>A	ENSP00000269197:p.Arg1823Gln		29579278	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.14	3.313996	0.60414	.	.	ENSG00000141431	ENST00000269197	T	0.18502	2.21	5.7	5.7	0.88788	.	.	.	.	.	T	0.32133	0.0819	L	0.27053	0.805	0.47009	D	0.999282	D	0.89917	1.0	D	0.79108	0.992	T	0.02417	-1.1162	9	0.49607	T	0.09	.	19.8478	0.96722	0.0:0.0:1.0:0.0	.	1823	Q9C0F0	ASXL3_HUMAN	Q	1823	ENSP00000269197:R1823Q	ENSP00000269197:R1823Q	R	+	2	0	ASXL3	29579278	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.444000	0.66587	2.698000	0.92095	0.655000	0.94253	CGA		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ASXL3	80816	broad.mit.edu	37	18	31326217	31326217	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31326217C>A	ENST00000269197.5	+	12	6405	c.6405C>A	c.(6403-6405)acC>acA	p.T2135T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2135					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.T2135T(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCCTTTTACCCAATTAGCTG	0.413																																					p.T2135T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6405A	18						.						84.0	90.0	88.0					18																	31326217		1893	4115	6008	29580215	SO:0001819	synonymous_variant	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6405C>A	18.37:g.31326217C>A			29580215	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
NOL4	8715	broad.mit.edu	37	18	31432850	31432850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31432850G>A	ENST00000261592.5	-	11	2170	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	NOL4_ENST00000589544.1_Nonsense_Mutation_p.R523*|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R340*|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R551*|NOL4_ENST00000269185.4_Nonsense_Mutation_p.R409*|NOL4_ENST00000535475.1_Nonsense_Mutation_p.R406*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	625						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R625*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTGCAGATCGCAATAAAAAT	0.438																																					p.R561X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1681T	18						.						137.0	124.0	128.0					18																	31432850		2203	4300	6503	29686848	SO:0001587	stop_gained	8715	exon10			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1873C>T	18.37:g.31432850G>A	ENSP00000261592:p.Arg625*		29686848	NM_001198546	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	40	8.105680	0.98657	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.296	20.4082	0.99013	0.0:0.0:1.0:0.0	.	.	.	.	X	625;409;340;406;551	.	ENSP00000261592:R625X	R	-	1	2	NOL4	29686848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.320000	0.96346	2.814000	0.96858	0.655000	0.94253	CGA		0.438	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	
MYOM1	8736	broad.mit.edu	37	18	3075754	3075754	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3075754C>T	ENST00000356443.4	-	35	4987	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	MYOM1_ENST00000400569.3_Missense_Mutation_p.D1552N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D1456N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1552					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.D1552N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAGGCCTCATCGTATGCTTTA	0.443																																					p.D1456N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G4366A	18						.						54.0	54.0	54.0					18																	3075754		1868	4102	5970	3065754	SO:0001583	missense	8736	exon34			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4654G>A	18.37:g.3075754C>T	ENSP00000348821:p.Asp1552Asn		3065754	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286894	0.59867	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.85;0.87;0.72	6.06	6.06	0.98353	.	0.191207	0.56097	D	0.000039	T	0.52757	0.1754	M	0.69823	2.125	0.58432	D	0.999999	P;P	0.37914	0.611;0.477	B;B	0.37346	0.247;0.103	T	0.49351	-0.8949	10	0.33141	T	0.24	.	20.6227	0.99507	0.0:1.0:0.0:0.0	.	1456;1552	P52179-2;P52179	.;MYOM1_HUMAN	N	1552;1552;1456	ENSP00000348821:D1552N;ENSP00000383413:D1552N;ENSP00000261606:D1456N	ENSP00000261606:D1456N	D	-	1	0	MYOM1	3065754	1.000000	0.71417	0.877000	0.34402	0.098000	0.18820	7.577000	0.82486	2.885000	0.99019	0.643000	0.83706	GAT		0.443	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MYOM1	8736	broad.mit.edu	37	18	3079256	3079256	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3079256C>T	ENST00000356443.4	-	34	4902	c.4569G>A	c.(4567-4569)ccG>ccA	p.P1523P	MYOM1_ENST00000400569.3_Silent_p.P1523P|MYOM1_ENST00000261606.7_Silent_p.P1427P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1523					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.P1523P(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGTCATTCGGGGTGGGCT	0.473																																					p.P1427P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4281A	18						.						99.0	94.0	95.0					18																	3079256		1887	4108	5995	3069256	SO:0001819	synonymous_variant	8736	exon33			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4569G>A	18.37:g.3079256C>T			3069256	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																				0.473	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MYOM1	8736	broad.mit.edu	37	18	3094231	3094231	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3094231C>A	ENST00000356443.4	-	26	4134	c.3801G>T	c.(3799-3801)gaG>gaT	p.E1267D	MYOM1_ENST00000400569.3_Missense_Mutation_p.E1267D|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.E1171D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1267					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.E1267D(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGACAGTTTCTCAGCCTGCA	0.383																																					p.E1171D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3513T	18						.						70.0	68.0	69.0					18																	3094231		1822	4076	5898	3084231	SO:0001583	missense	8736	exon25			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3801G>T	18.37:g.3094231C>A	ENSP00000348821:p.Glu1267Asp		3084231	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436877	0.43224	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.04758	3.56;3.56;3.56	5.55	2.58	0.30949	Immunoglobulin-like fold (1);	0.139516	0.64402	D	0.000004	T	0.04998	0.0134	L	0.51914	1.62	0.33459	D	0.584705	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.004	T	0.13953	-1.0490	10	0.23891	T	0.37	.	7.6236	0.28200	0.0:0.6098:0.0:0.3902	.	1171;1267	P52179-2;P52179	.;MYOM1_HUMAN	D	1267;1267;1171	ENSP00000348821:E1267D;ENSP00000383413:E1267D;ENSP00000261606:E1171D	ENSP00000261606:E1171D	E	-	3	2	MYOM1	3084231	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.534000	0.23098	0.884000	0.36064	0.655000	0.94253	GAG		0.383	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MYOM1	8736	broad.mit.edu	37	18	3102540	3102540	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3102540G>T	ENST00000356443.4	-	23	3840	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	MYOM1_ENST00000400569.3_Missense_Mutation_p.F1169L|MYOM1_ENST00000261606.7_Missense_Mutation_p.F1073L	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1169	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.F1169L(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGACCAGGAGAACTCGGACT	0.418																																					p.F1073L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3219A	18						.						196.0	191.0	193.0					18																	3102540		1899	4120	6019	3092540	SO:0001583	missense	8736	exon22			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3507C>A	18.37:g.3102540G>T	ENSP00000348821:p.Phe1169Leu		3092540	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892747	0.52121	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.65549	-0.16;-0.16;-0.16	5.46	5.46	0.80206	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	M	0.84585	2.705	0.45108	D	0.998126	P;B	0.43973	0.823;0.19	B;B	0.39904	0.313;0.095	T	0.67225	-0.5724	10	0.31617	T	0.26	.	12.257	0.54629	0.1229:0.0:0.8771:0.0	.	1073;1169	P52179-2;P52179	.;MYOM1_HUMAN	L	1169;1169;1073	ENSP00000348821:F1169L;ENSP00000383413:F1169L;ENSP00000261606:F1073L	ENSP00000261606:F1073L	F	-	3	2	MYOM1	3092540	0.973000	0.33851	0.672000	0.29872	0.817000	0.46193	1.430000	0.34914	2.554000	0.86153	0.557000	0.71058	TTC		0.418	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
NOL4	8715	broad.mit.edu	37	18	31463348	31463348	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:31463348G>A	ENST00000261592.5	-	10	1880	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V	NOL4_ENST00000589544.1_Missense_Mutation_p.A426V|NOL4_ENST00000535384.1_Missense_Mutation_p.A243V|NOL4_ENST00000538587.1_Missense_Mutation_p.A454V|NOL4_ENST00000269185.4_Missense_Mutation_p.A312V|NOL4_ENST00000535475.1_Missense_Mutation_p.A309V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	528						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.A528V(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCCTGGGTCGCCTCTGGTTT	0.473																																					p.A464V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1391T	18						.						137.0	114.0	122.0					18																	31463348		2203	4300	6503	29717346	SO:0001583	missense	8715	exon9			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1583C>T	18.37:g.31463348G>A	ENSP00000261592:p.Ala528Val		29717346	NM_001198546	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223682	0.39300	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.78	3.94	0.45596	.	0.599043	0.17048	N	0.189053	T	0.44540	0.1298	L	0.29908	0.895	0.28822	N	0.897628	B;B;B;B;D;B	0.67145	0.165;0.165;0.052;0.052;0.996;0.387	B;B;B;B;P;B	0.57009	0.023;0.023;0.023;0.023;0.811;0.075	T	0.31364	-0.9946	9	0.39692	T	0.17	-2.6946	11.9138	0.52753	0.0669:0.1213:0.8117:0.0	.	243;454;528;243;426;309	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	V	528;312;243;309;454	.	ENSP00000261592:A528V	A	-	2	0	NOL4	29717346	1.000000	0.71417	0.829000	0.32907	0.456000	0.32438	4.317000	0.59184	1.401000	0.46761	0.563000	0.77884	GCG		0.473	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787	
ZNF397	84307	broad.mit.edu	37	18	32822559	32822559	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:32822559C>A	ENST00000330501.7	+	2	278	c.125C>A	c.(124-126)aCt>aAt	p.T42N	ZNF397_ENST00000261333.6_Missense_Mutation_p.T42N|ZNF397_ENST00000585800.1_Missense_Mutation_p.T42N|ZNF397_ENST00000591206.1_Missense_Mutation_p.T42N|ZNF397_ENST00000592264.1_Missense_Mutation_p.T42N|ZNF397_ENST00000355632.4_Missense_Mutation_p.T42N|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	42					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T42N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AATGGGAGTACTCAATCCTGC	0.463																																					p.T42N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125A	18						.						55.0	61.0	59.0					18																	32822559		2203	4300	6503	31076557	SO:0001583	missense	84307	exon2			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.125C>A	18.37:g.32822559C>A	ENSP00000331577:p.Thr42Asn		31076557	NM_032347	Q9BRM2	Missense_Mutation	SNP	ENST00000330501.7	37	CCDS45852.1	.	.	.	.	.	.	.	.	.	.	C	3.400	-0.122495	0.06795	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.06218	4.41;3.33;4.35	4.19	-2.3	0.06785	Retrovirus capsid, C-terminal (1);	1.876600	0.03244	N	0.180904	T	0.02047	0.0064	N	0.01352	-0.895	0.09310	N	1	P;B;P;B	0.46512	0.808;0.0;0.879;0.001	B;B;P;B	0.45449	0.288;0.0;0.481;0.002	T	0.29305	-1.0016	10	0.05959	T	0.93	.	0.1498	0.00092	0.2903:0.2684:0.1581:0.2831	.	42;42;42;42	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	N	42	ENSP00000261333:T42N;ENSP00000331577:T42N;ENSP00000347850:T42N	ENSP00000261333:T42N	T	+	2	0	ZNF397	31076557	0.000000	0.05858	0.000000	0.03702	0.965000	0.64279	-1.047000	0.03521	-0.498000	0.06632	0.591000	0.81541	ACT		0.463	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347	
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3126851G>A	ENST00000356443.4	-	19	3172	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_ENST00000400569.3_Missense_Mutation_p.R947C|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	947	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R947C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423																																					p.R851C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2551T	18						.						64.0	57.0	59.0					18																	3126851		1919	4147	6066	3116851	SO:0001583	missense	8736	exon18			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2839C>T	18.37:g.3126851G>A	ENSP00000348821:p.Arg947Cys		3116851	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359548	0.82353	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57595	0.39;0.39;0.39	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051201	0.85682	D	0.000000	T	0.71626	0.3362	M	0.61703	1.905	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.946	T	0.73260	-0.4039	10	0.66056	D	0.02	.	19.3015	0.94145	0.0:0.0:1.0:0.0	.	851;947	P52179-2;P52179	.;MYOM1_HUMAN	C	947;947;851	ENSP00000348821:R947C;ENSP00000383413:R947C;ENSP00000261606:R851C	ENSP00000261606:R851C	R	-	1	0	MYOM1	3116851	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.548000	0.82154	2.559000	0.86315	0.655000	0.94253	CGT		0.423	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ZSCAN30	100101467	broad.mit.edu	37	18	32833622	32833622	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:32833622G>T	ENST00000420878.3	-	5	1732	c.1277C>A	c.(1276-1278)tCt>tAt	p.S426Y	ZNF397_ENST00000261333.6_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.S426Y|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	426					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.S426Y(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						AATAAGGATAGAACTCCTACC	0.418																																					p.S426Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1277A	18						.						107.0	103.0	104.0					18																	32833622		1568	3582	5150	31087620	SO:0001583	missense	100101467	exon4			AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"""-"", ""Zinc fingers, C2H2-type"""	33517	protein-coding gene	gene with protein product			"""zinc finger protein 397 opposite strand"", ""ZNF397 opposite strand"""	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.1277C>A	18.37:g.32833622G>T	ENSP00000392371:p.Ser426Tyr		31087620	NM_001112734	B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	G	9.409	1.079953	0.20309	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.37058	1.22;1.22	4.19	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35838	N	0.002954	T	0.30198	0.0757	M	0.73430	2.235	0.09310	N	0.999999	B	0.30664	0.289	B	0.22753	0.041	T	0.37842	-0.9688	10	0.66056	D	0.02	.	2.4964	0.04622	0.1067:0.1817:0.5087:0.2029	.	426	Q86W11	ZSC30_HUMAN	Y	426;426;361	ENSP00000392371:S426Y;ENSP00000329738:S426Y	ENSP00000329738:S426Y	S	-	2	0	ZSCAN30	31087620	0.019000	0.18553	0.642000	0.29436	0.986000	0.74619	1.403000	0.34612	0.472000	0.27344	0.655000	0.94253	TCT		0.418	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734	
ZNF24	7572	broad.mit.edu	37	18	32917344	32917344	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:32917344G>A	ENST00000261332.6	-	4	1138	c.959C>T	c.(958-960)tCg>tTg	p.S320L	ZNF24_ENST00000399061.3_Missense_Mutation_p.S320L|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	320					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S320L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AATAAGCCCCGAATTCTGGCT	0.418																																					p.S320L	Colon(42;769 913 8916 19469 46270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C959T	18						.						108.0	110.0	110.0					18																	32917344		2203	4300	6503	31171342	SO:0001583	missense	7572	exon4			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.959C>T	18.37:g.32917344G>A	ENSP00000261332:p.Ser320Leu		31171342	NM_006965	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664242	0.47572	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.07444	3.19;3.19	5.14	5.14	0.70334	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.120219	0.38778	N	0.001569	T	0.15522	0.0374	M	0.81239	2.535	0.35279	D	0.781144	D	0.63880	0.993	P	0.44647	0.456	T	0.18713	-1.0328	10	0.87932	D	0	.	11.0868	0.48091	0.0:0.0:0.8155:0.1845	.	320	P17028	ZNF24_HUMAN	L	320	ENSP00000261332:S320L;ENSP00000382015:S320L	ENSP00000261332:S320L	S	-	2	0	ZNF24	31171342	0.262000	0.24073	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.679000	0.91253	0.655000	0.94253	TCG		0.418	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965	
ZNF24	7572	broad.mit.edu	37	18	32919901	32919901	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:32919901C>A	ENST00000261332.6	-	3	639	c.460G>T	c.(460-462)Gac>Tac	p.D154Y	ZNF24_ENST00000399061.3_Missense_Mutation_p.D154Y|ZNF24_ENST00000589881.1_Missense_Mutation_p.D154Y	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	154					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D154Y(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GATACCATGTCTTCTACTAGT	0.448																																					p.D154Y	Colon(42;769 913 8916 19469 46270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460T	18						.						112.0	104.0	107.0					18																	32919901		2203	4300	6503	31173899	SO:0001583	missense	7572	exon3			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.460G>T	18.37:g.32919901C>A	ENSP00000261332:p.Asp154Tyr		31173899	NM_006965	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461270	0.26248	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.05258	3.47;3.47	5.58	3.78	0.43462	Transcription regulator SCAN (1);	0.105137	0.42420	D	0.000711	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B;B	0.25105	0.118;0.072	B;B	0.30943	0.122;0.008	T	0.35151	-0.9800	10	0.87932	D	0	.	8.2087	0.31471	0.0:0.8214:0.0:0.1786	.	154;154	P17028-2;P17028	.;ZNF24_HUMAN	Y	154	ENSP00000261332:D154Y;ENSP00000382015:D154Y	ENSP00000261332:D154Y	D	-	1	0	ZNF24	31173899	0.389000	0.25205	0.169000	0.22859	0.635000	0.38103	1.359000	0.34113	1.515000	0.48885	0.655000	0.94253	GAC		0.448	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965	
C18orf21	83608	broad.mit.edu	37	18	33558851	33558851	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:33558851A>C	ENST00000592875.1	+	5	1191	c.545A>C	c.(544-546)aAa>aCa	p.K182T	C18orf21_ENST00000333234.5_Missense_Mutation_p.K94T	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	182								p.K182T(1)		endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AACACCAGCAAAACAAAGAAA	0.358																																					p.K182T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A545C	18						.						88.0	87.0	87.0					18																	33558851		2203	4300	6503	31812849	SO:0001583	missense	83608	exon5			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.545A>C	18.37:g.33558851A>C	ENSP00000465517:p.Lys182Thr		31812849	NM_031446	Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132380	0.37630	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.51574	0.7	5.67	1.95	0.26073	.	0.550372	0.20840	N	0.084725	T	0.54415	0.1857	.	.	.	0.28545	N	0.91192	D	0.63046	0.992	P	0.59357	0.856	T	0.49799	-0.8901	9	0.59425	D	0.04	-2.5116	4.9075	0.13806	0.7086:0.0:0.1538:0.1376	.	182	Q32NC0	CR021_HUMAN	T	182;94	ENSP00000269194:K94T	ENSP00000269194:K94T	K	+	2	0	C18orf21	31812849	0.950000	0.32346	0.660000	0.29694	0.015000	0.08874	1.093000	0.30939	0.155000	0.19261	-0.336000	0.08194	AAA		0.358	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446	
RPRD1A	55197	broad.mit.edu	37	18	33573184	33573184	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:33573184G>T	ENST00000399022.4	-	7	1040	c.869C>A	c.(868-870)tCt>tAt	p.S290Y	RPRD1A_ENST00000590898.1_Missense_Mutation_p.S254Y|RPRD1A_ENST00000337059.5_Missense_Mutation_p.S254Y|RPRD1A_ENST00000357384.4_Missense_Mutation_p.S290Y|RPRD1A_ENST00000588737.1_Missense_Mutation_p.S254Y	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	290					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S290Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GGGCAATCGAGATAAGTCTGG	0.537																																					p.S290Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869A	18						.						109.0	100.0	103.0					18																	33573184		2203	4300	6503	31827182	SO:0001583	missense	55197	exon7			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.869C>A	18.37:g.33573184G>T	ENSP00000381984:p.Ser290Tyr		31827182	NM_018170	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044374	0.75732	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.74348	0.905;0.983	T	0.79075	-0.1952	9	0.72032	D	0.01	-10.0903	17.5252	0.87798	0.0:0.0:1.0:0.0	.	290;254	Q96P16;Q96P16-3	RPR1A_HUMAN;.	Y	290;290;254	.	ENSP00000337476:S254Y	S	-	2	0	RPRD1A	31827182	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.675000	0.98638	2.746000	0.94184	0.655000	0.94253	TCT		0.537	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170	
ELP2	55250	broad.mit.edu	37	18	33739747	33739747	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:33739747T>G	ENST00000358232.6	+	15	1647	c.1584T>G	c.(1582-1584)acT>acG	p.T528T	ELP2_ENST00000442325.2_Silent_p.T593T|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000542824.1_Silent_p.T458T|ELP2_ENST00000350494.6_Silent_p.T523T|ELP2_ENST00000351393.6_Silent_p.T502T|ELP2_ENST00000423854.2_Silent_p.T458T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	528					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.T528T(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TAACTAGTACTGGTTTTGAGT	0.373																																					p.T528T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1584G	18						.						144.0	143.0	143.0					18																	33739747		2203	4300	6503	31993745	SO:0001819	synonymous_variant	55250	exon15			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1584T>G	18.37:g.33739747T>G			31993745	NM_018255	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	ENST00000358232.6	37	CCDS11918.1																																																																																				0.373	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255	
MOCOS	55034	broad.mit.edu	37	18	33783112	33783112	+	Silent	SNP	C	C	T	rs540275885		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:33783112C>T	ENST00000261326.5	+	5	999	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.I326I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGATGTTATCGCGCTAAAAC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20533	0.0		0.001	False		,,,				2504	0.0				p.I326I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978T	18						.						236.0	188.0	205.0					18																	33783112		2203	4300	6503	32037110	SO:0001819	synonymous_variant	55034	exon5			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.978C>T	18.37:g.33783112C>T			32037110	NM_017947		Silent	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																				0.478	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
MOCOS	55034	broad.mit.edu	37	18	33846726	33846726	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:33846726T>C	ENST00000261326.5	+	14	2445	c.2424T>C	c.(2422-2424)tgT>tgC	p.C808C	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.C808C(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGGGCCTTGTCACAGATGCC	0.493																																					p.C808C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2424C	18						.						96.0	85.0	89.0					18																	33846726		2203	4300	6503	32100724	SO:0001819	synonymous_variant	55034	exon14			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.2424T>C	18.37:g.33846726T>C			32100724	NM_017947		Silent	SNP	ENST00000261326.5	37	CCDS11919.1																																																																																				0.493	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
MYL12A	10627	broad.mit.edu	37	18	3253332	3253332	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3253332G>A	ENST00000217652.3	+	2	482	c.87G>A	c.(85-87)caG>caA	p.Q29Q	MYL12A_ENST00000579226.1_Silent_p.Q29Q|MYL12A_ENST00000580887.1_Silent_p.Q35Q|RP13-270P17.1_ENST00000581905.1_RNA|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000578611.1_Silent_p.Q29Q|MYL12A_ENST00000536605.1_Silent_p.Q29Q	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	29	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)	p.Q29Q(1)		NS(1)|kidney(2)|large_intestine(2)	5						ACCAGTCACAGATTCAGGAGT	0.438																																					p.Q29Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G87A	18						.						203.0	187.0	192.0					18																	3253332		2203	4299	6502	3243332	SO:0001819	synonymous_variant	10627	exon2			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.87G>A	18.37:g.3253332G>A			3243332	NM_006471	Q53X45	Silent	SNP	ENST00000217652.3	37	CCDS11830.1																																																																																				0.438	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2	NM_006471	
MYL12A	10627	broad.mit.edu	37	18	3255808	3255808	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3255808G>A	ENST00000217652.3	+	4	803	c.408G>A	c.(406-408)gaG>gaA	p.E136E	MYL12A_ENST00000579226.1_Silent_p.E136E|MYL12A_ENST00000580887.1_Silent_p.E142E|RP13-270P17.1_ENST00000581905.1_RNA|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000578611.1_Silent_p.E136E|MYL12A_ENST00000536605.1_Silent_p.E136E	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	136	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)	p.E136E(1)		NS(1)|kidney(2)|large_intestine(2)	5						TTACAGATGAGGAAGTGGATG	0.433																																					p.E136E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G408A	18						.						81.0	73.0	76.0					18																	3255808		2203	4300	6503	3245808	SO:0001819	synonymous_variant	10627	exon4			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.408G>A	18.37:g.3255808G>A			3245808	NM_006471	Q53X45	Silent	SNP	ENST00000217652.3	37	CCDS11830.1																																																																																				0.433	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2	NM_006471	
FHOD3	80206	broad.mit.edu	37	18	34174854	34174854	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34174854G>A	ENST00000359247.4	+	7	711	c.711G>A	c.(709-711)acG>acA	p.T237T	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000257209.4_Silent_p.T237T|FHOD3_ENST00000590592.1_Silent_p.T237T|FHOD3_ENST00000445677.1_Silent_p.T237T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	237	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.T237T(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)				CTGTTGACACGAAAAGAGGTG	0.498																																					p.T237T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	18						.						116.0	91.0	99.0					18																	34174854		2203	4300	6503	32428852	SO:0001819	synonymous_variant	80206	exon7			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.711G>A	18.37:g.34174854G>A			32428852	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37																																																																																					0.498	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34205498	34205498	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34205498G>A	ENST00000359247.4	+	10	982	c.982G>A	c.(982-984)Gat>Aat	p.D328N	FHOD3_ENST00000591635.1_Silent_p.A2A|FHOD3_ENST00000257209.4_Missense_Mutation_p.D328N|FHOD3_ENST00000590592.1_Missense_Mutation_p.D328N|FHOD3_ENST00000445677.1_Missense_Mutation_p.D328N	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	328	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.D328N(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)				CGAGGATGGCGATGAGACCAC	0.652																																					p.D328N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	18						.						48.0	50.0	50.0					18																	34205498		2203	4300	6503	32459496	SO:0001583	missense	80206	exon10			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.982G>A	18.37:g.34205498G>A	ENSP00000352186:p.Asp328Asn		32459496	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	20.9	4.066333	0.76187	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.36878	1.23;1.23;1.23	5.75	5.75	0.90469	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.102055	0.64402	D	0.000003	T	0.55465	0.1922	L	0.52126	1.63	0.48830	D	0.999719	P;D;D;P	0.89917	0.825;1.0;1.0;0.771	B;D;D;B	0.81914	0.414;0.995;0.966;0.353	T	0.53837	-0.8382	10	0.62326	D	0.03	.	16.6927	0.85326	0.0:0.0:1.0:0.0	.	328;328;328;328	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	328	ENSP00000257209:D328N;ENSP00000352186:D328N;ENSP00000411430:D328N	ENSP00000257209:D328N	D	+	1	0	FHOD3	32459496	1.000000	0.71417	0.318000	0.25279	0.215000	0.24574	8.297000	0.89942	2.716000	0.92895	0.655000	0.94253	GAT		0.652	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34205696	34205696	+	Nonsense_Mutation	SNP	C	C	T	rs376015995		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34205696C>T	ENST00000359247.4	+	10	1180	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	FHOD3_ENST00000591635.1_Silent_p.C68C|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.R394*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.R394*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.R394*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	394	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R394*(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)				CAACCAAGTGCGAGATCTGCG	0.597																																					p.R394X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1180T	18						.						122.0	125.0	124.0					18																	34205696		2203	4300	6503	32459694	SO:0001587	stop_gained	80206	exon10			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.1180C>T	18.37:g.34205696C>T	ENSP00000352186:p.Arg394*		32459694	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	21.8	4.208796	0.79240	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	4.94	2.98	0.34508	.	0.845757	0.10652	N	0.649828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	13.9914	0.64369	0.0:0.6911:0.3089:0.0	.	.	.	.	X	394	.	ENSP00000257209:R394X	R	+	1	2	FHOD3	32459694	0.078000	0.21339	0.588000	0.28705	0.221000	0.24807	0.628000	0.24522	1.056000	0.40484	0.655000	0.94253	CGA		0.597	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34267095	34267095	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34267095G>T	ENST00000359247.4	+	12	1445				FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.D484Y|FHOD3_ENST00000590592.1_Missense_Mutation_p.D659Y|FHOD3_ENST00000445677.1_Missense_Mutation_p.D446Y	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						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.D484Y(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)				CATTAGCCGAGATTATTTAGA	0.318																																					p.D484Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1450T	18						.						126.0	116.0	120.0					18																	34267095		2203	4300	6503	32521093	SO:0001627	intron_variant	80206	exon13			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.1445+5562G>T	18.37:g.34267095G>T			32521093	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	18.85	3.711406	0.68730	.	.	ENSG00000134775	ENST00000257209;ENST00000445677	T;T	0.35605	1.3;1.36	5.79	5.79	0.91817	.	0.204017	0.50627	D	0.000113	T	0.34890	0.0913	L	0.29908	0.895	0.53005	D	0.999961	P;B	0.38048	0.616;0.441	B;B	0.43478	0.421;0.421	T	0.12016	-1.0564	10	0.59425	D	0.04	.	14.244	0.65975	0.0:0.1491:0.8509:0.0	.	446;484	Q2V2M9-2;Q2V2M9-3	.;.	Y	484;446	ENSP00000257209:D484Y;ENSP00000411430:D446Y	ENSP00000257209:D484Y	D	+	1	0	FHOD3	32521093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.032000	0.70918	2.735000	0.93741	0.655000	0.94253	GAT		0.318	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34324002	34324002	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34324002C>T	ENST00000359247.4	+	19	3311	c.3311C>T	c.(3310-3312)gCg>gTg	p.A1104V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A100V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A317V|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1121V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1296V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1083V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1104	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.A1121V(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)				CAGGCCAAAGCGTTTGAGTTA	0.458																																					p.A1121V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3362T	18						.						171.0	162.0	165.0					18																	34324002		2203	4300	6503	32578000	SO:0001583	missense	80206	exon20			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.3311C>T	18.37:g.34324002C>T	ENSP00000352186:p.Ala1104Val		32578000	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.508756	0.85282	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.65549	-0.16;-0.16;-0.16	5.22	5.22	0.72569	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.048367	0.85682	D	0.000000	T	0.74068	0.3668	L	0.52011	1.625	0.52501	D	0.999953	P;D;D;D	0.76494	0.94;0.999;0.999;0.995	P;P;D;P	0.65684	0.804;0.895;0.937;0.89	T	0.76785	-0.2831	10	0.87932	D	0	.	17.3602	0.87348	0.0:1.0:0.0:0.0	.	325;1083;1104;1121	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	V	1121;1104;1083	ENSP00000257209:A1121V;ENSP00000352186:A1104V;ENSP00000411430:A1083V	ENSP00000257209:A1121V	A	+	2	0	FHOD3	32578000	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.174000	0.65015	2.428000	0.82296	0.563000	0.77884	GCG		0.458	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34349366	34349366	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:34349366G>A	ENST00000359247.4	+	23	4163	c.4163G>A	c.(4162-4164)cGa>cAa	p.R1388Q	FHOD3_ENST00000592128.1_Missense_Mutation_p.R384Q|FHOD3_ENST00000591635.1_Missense_Mutation_p.R601Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R1405Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1588Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1367Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1388	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				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.R1405Q(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)				GAGAGGAAACGATCCCGGGCC	0.567																																					p.R1405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4214A	18						.						82.0	63.0	69.0					18																	34349366		2203	4300	6503	32603364	SO:0001583	missense	80206	exon24			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.4163G>A	18.37:g.34349366G>A	ENSP00000352186:p.Arg1388Gln		32603364	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.563502	0.96527	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.52295	0.68;0.67;0.67	5.43	5.43	0.79202	Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.991	T	0.73691	-0.3903	10	0.87932	D	0	.	15.991	0.80206	0.0:0.0:1.0:0.0	.	1367;1388;1405	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	Q	1405;1388;1367	ENSP00000257209:R1405Q;ENSP00000352186:R1388Q;ENSP00000411430:R1367Q	ENSP00000257209:R1405Q	R	+	2	0	FHOD3	32603364	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.464000	0.97655	2.547000	0.85894	0.655000	0.94253	CGA		0.567	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
PIK3C3	5289	broad.mit.edu	37	18	39584334	39584334	+	Missense_Mutation	SNP	C	C	A	rs200744647		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:39584334C>A	ENST00000262039.4	+	10	1085	c.999C>A	c.(997-999)ttC>ttA	p.F333L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F270L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	333	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.			FLKCVN -> ILTSVI (in Ref. 1; CAA87094). {ECO:0000305}.	autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.F333L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TGACAAAATTCTTGAAATGTG	0.413										TSP Lung(28;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17310	0.001		0.0	False		,,,				2504	0.0				p.F333L	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C999A	18						.						50.0	50.0	50.0					18																	39584334		2203	4300	6503	37838332	SO:0001583	missense	5289	exon10			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.999C>A	18.37:g.39584334C>A	ENSP00000262039:p.Phe333Leu		37838332	NM_002647	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.58	3.655339	0.67586	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.58797	0.31;0.31	5.45	2.28	0.28536	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.096585	0.85682	D	0.000000	T	0.62588	0.2440	L	0.41961	1.31	0.80722	D	1	D;D	0.61697	0.99;0.986	P;D	0.64144	0.749;0.922	T	0.58752	-0.7581	9	.	.	.	.	10.7634	0.46279	0.0:0.7289:0.0:0.2711	.	270;333	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	L	333;270	ENSP00000262039:F333L;ENSP00000381845:F270L	.	F	+	3	2	PIK3C3	37838332	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.729000	0.47327	0.689000	0.31550	-0.150000	0.13652	TTC		0.413	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
PIK3C3	5289	broad.mit.edu	37	18	39595447	39595447	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:39595447A>C	ENST00000262039.4	+	12	1419	c.1333A>C	c.(1333-1335)Att>Ctt	p.I445L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.I382L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	445	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.I445L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CAGCTCCCAAATTATAACCAG	0.383										TSP Lung(28;0.18)																											p.I445L	NSCLC(37;552 1060 2683 16430 37914)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1333C	18						.						132.0	133.0	133.0					18																	39595447		2203	4300	6503	37849445	SO:0001583	missense	5289	exon12			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1333A>C	18.37:g.39595447A>C	ENSP00000262039:p.Ile445Leu		37849445	NM_002647	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	9.905	1.207828	0.22205	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.62788	-0.0;0.37	5.73	5.73	0.89815	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	0.285141	0.29185	N	0.012884	T	0.36991	0.0987	N	0.02802	-0.49	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32052	-0.9921	9	.	.	.	.	14.5843	0.68312	1.0:0.0:0.0:0.0	.	382;445	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	L	445;382	ENSP00000262039:I445L;ENSP00000381845:I382L	.	I	+	1	0	PIK3C3	37849445	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.204000	0.65180	2.189000	0.69895	0.533000	0.62120	ATT		0.383	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
SYT4	6860	broad.mit.edu	37	18	40853938	40853938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:40853938C>A	ENST00000255224.3	-	2	824	c.456G>T	c.(454-456)gaG>gaT	p.E152D	SYT4_ENST00000590752.1_Missense_Mutation_p.E134D|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	152	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E152D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCCCAGCTTCTCTTGTTTCT	0.453																																					p.E152D	NSCLC(85;81 1419 2855 22820 35912)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G456T	18						.						46.0	47.0	46.0					18																	40853938		2203	4299	6502	39107936	SO:0001583	missense	6860	exon2			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.456G>T	18.37:g.40853938C>A	ENSP00000255224:p.Glu152Asp		39107936	NM_020783	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	6.772	0.511286	0.12944	.	.	ENSG00000132872	ENST00000255224	T	0.08370	3.1	5.87	4.0	0.46444	C2 calcium/lipid-binding domain, CaLB (1);	0.243384	0.47852	D	0.000204	T	0.02380	0.0073	N	0.02011	-0.69	0.27207	N	0.960006	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47535	-0.9110	10	0.15499	T	0.54	.	3.6862	0.08329	0.3095:0.4748:0.1351:0.0805	.	134;152	B4DEU3;Q9H2B2	.;SYT4_HUMAN	D	152	ENSP00000255224:E152D	ENSP00000255224:E152D	E	-	3	2	SYT4	39107936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.889000	0.28282	2.941000	0.99782	0.655000	0.94253	GAG		0.453	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
SYT4	6860	broad.mit.edu	37	18	40854096	40854096	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:40854096C>A	ENST00000255224.3	-	2	666	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	SYT4_ENST00000590752.1_Missense_Mutation_p.D82Y|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	100					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D100Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCATTGAGATCTCTCTTTTCA	0.403																																					p.D100Y	NSCLC(85;81 1419 2855 22820 35912)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298T	18						.						151.0	149.0	150.0					18																	40854096		2203	4300	6503	39108094	SO:0001583	missense	6860	exon2			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.298G>T	18.37:g.40854096C>A	ENSP00000255224:p.Asp100Tyr		39108094	NM_020783	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933852	0.73442	.	.	ENSG00000132872	ENST00000255224	T	0.42131	0.98	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.61720	-0.7005	10	0.59425	D	0.04	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	82;100	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Y	100	ENSP00000255224:D100Y	ENSP00000255224:D100Y	D	-	1	0	SYT4	39108094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.205000	0.77881	2.937000	0.99478	0.650000	0.86243	GAT		0.403	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
SETBP1	26040	broad.mit.edu	37	18	42529971	42529971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:42529971G>A	ENST00000282030.5	+	4	962	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	222						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.W168*(1)|p.W222*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACATGGACTGGTCCACCAACT	0.537									Schinzel-Giedion syndrome																												p.W222X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G666A	18						.						87.0	79.0	82.0					18																	42529971		2203	4300	6503	40783969	SO:0001587	stop_gained	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.666G>A	18.37:g.42529971G>A	ENSP00000282030:p.Trp222*		40783969	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	39	7.321045	0.98210	.	.	ENSG00000152217	ENST00000282030	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000282030:W222X	W	+	3	0	SETBP1	40783969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.472000	0.80996	2.813000	0.96785	0.655000	0.94253	TGG		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42530598	42530598	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:42530598C>A	ENST00000282030.5	+	4	1589	c.1293C>A	c.(1291-1293)atC>atA	p.I431I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	431						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I431I(1)|p.I377I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGGAAAAGATCATGCCAGAGA	0.473									Schinzel-Giedion syndrome																												p.I431I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1293A	18						.						83.0	85.0	84.0					18																	42530598		2203	4300	6503	40784596	SO:0001819	synonymous_variant	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1293C>A	18.37:g.42530598C>A			40784596	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42530748	42530748	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:42530748A>C	ENST00000282030.5	+	4	1739	c.1443A>C	c.(1441-1443)gaA>gaC	p.E481D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	481						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E481D(1)|p.E427D(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTGGCCTTGAAACTGGTGGAA	0.488									Schinzel-Giedion syndrome																												p.E481D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1443C	18						.						80.0	84.0	82.0					18																	42530748		2203	4300	6503	40784746	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1443A>C	18.37:g.42530748A>C	ENSP00000282030:p.Glu481Asp		40784746	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	6.935	0.542168	0.13250	.	.	ENSG00000152217	ENST00000282030	T	0.68624	-0.34	6.08	-2.36	0.06663	.	0.159786	0.56097	D	0.000035	T	0.42063	0.1186	N	0.17082	0.46	0.19300	N	0.999976	B	0.14012	0.009	B	0.16722	0.016	T	0.28933	-1.0028	10	0.12766	T	0.61	.	10.6596	0.45694	0.319:0.1484:0.5326:0.0	.	481	Q9Y6X0	SETBP_HUMAN	D	481	ENSP00000282030:E481D	ENSP00000282030:E481D	E	+	3	2	SETBP1	40784746	0.069000	0.21087	0.178000	0.23040	0.803000	0.45373	0.010000	0.13242	-0.648000	0.05437	0.533000	0.62120	GAA		0.488	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42532327	42532327	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:42532327C>T	ENST00000282030.5	+	4	3318	c.3022C>T	c.(3022-3024)Cgt>Tgt	p.R1008C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1008						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1008C(1)|p.R954C(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTCTATCTTCGTAGGACTTC	0.443									Schinzel-Giedion syndrome																												p.R1008C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3022T	18						.						105.0	102.0	103.0					18																	42532327		2203	4300	6503	40786325	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3022C>T	18.37:g.42532327C>T	ENSP00000282030:p.Arg1008Cys		40786325	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080988	0.55753	.	.	ENSG00000152217	ENST00000282030	D	0.93076	-3.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.95365	0.8459	10	0.87932	D	0	.	20.0893	0.97812	0.0:1.0:0.0:0.0	.	1008	Q9Y6X0	SETBP_HUMAN	C	1008	ENSP00000282030:R1008C	ENSP00000282030:R1008C	R	+	1	0	SETBP1	40786325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.761000	0.94854	0.655000	0.94253	CGT		0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SLC14A2	8170	broad.mit.edu	37	18	43205689	43205689	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43205689C>T	ENST00000255226.6	+	3	1008	c.192C>T	c.(190-192)atC>atT	p.I64I	SLC14A2_ENST00000586448.1_Silent_p.I64I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	64					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.I64I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTGAAGATCGAAAAGCTCA	0.488																																					p.I64I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	18						.						65.0	60.0	62.0					18																	43205689		2203	4300	6503	41459687	SO:0001819	synonymous_variant	8170	exon3			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.192C>T	18.37:g.43205689C>T			41459687	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.488	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
EPG5	57724	broad.mit.edu	37	18	43447564	43447564	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43447564A>C	ENST00000282041.5	-	37	6409	c.6375T>G	c.(6373-6375)atT>atG	p.I2125M	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2125					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.I2125M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTGCCAATAAAATCATCATGA	0.453																																					p.I2125M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6375G	18						.						143.0	141.0	141.0					18																	43447564		1894	4122	6016	41701562	SO:0001583	missense	57724	exon37			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6375T>G	18.37:g.43447564A>C	ENSP00000282041:p.Ile2125Met		41701562	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854556	0.51376	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.12672	2.66	5.68	3.05	0.35203	.	.	.	.	.	T	0.09642	0.0237	N	0.19112	0.55	0.31677	N	0.643576	B	0.32526	0.374	B	0.38616	0.277	T	0.16247	-1.0409	9	0.87932	D	0	-1.1225	2.9305	0.05797	0.4601:0.2399:0.3:0.0	.	2125	Q9HCE0	EPG5_HUMAN	M	2125;53;1000	ENSP00000282041:I2125M	ENSP00000282041:I2125M	I	-	3	3	EPG5	41701562	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.269000	0.33074	1.096000	0.41439	0.528000	0.53228	ATT		0.453	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43497773	43497773	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43497773A>C	ENST00000282041.5	-	17	3144	c.3110T>G	c.(3109-3111)tTc>tGc	p.F1037C	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1037					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.F1037C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTCTGCACAGAACTTCTCAAT	0.408																																					p.F1037C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3110G	18						.						91.0	82.0	85.0					18																	43497773		1873	4111	5984	41751771	SO:0001583	missense	57724	exon17			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3110T>G	18.37:g.43497773A>C	ENSP00000282041:p.Phe1037Cys		41751771	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125524	0.77436	.	.	ENSG00000152223	ENST00000282041	T	0.15487	2.42	5.7	5.7	0.88788	.	0.489620	0.22116	N	0.064402	T	0.40791	0.1131	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.18777	-1.0326	10	0.72032	D	0.01	-21.0305	15.9579	0.79902	1.0:0.0:0.0:0.0	.	1037;1037	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	1037	ENSP00000282041:F1037C	ENSP00000282041:F1037C	F	-	2	0	EPG5	41751771	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.315000	0.89983	2.178000	0.69098	0.533000	0.62120	TTC		0.408	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43532513	43532513	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43532513C>T	ENST00000282041.5	-	3	1139	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	369					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.D369N(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATTTGGCATCGAATAGCTTC	0.438																																					p.D369N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1105A	18						.						98.0	99.0	99.0					18																	43532513		1916	4131	6047	41786511	SO:0001583	missense	57724	exon3			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1105G>A	18.37:g.43532513C>T	ENSP00000282041:p.Asp369Asn		41786511	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042318	0.35989	.	.	ENSG00000152223	ENST00000282041	T	0.80738	-1.41	5.59	5.59	0.84812	.	0.616477	0.18140	N	0.150451	T	0.71762	0.3378	L	0.36672	1.1	0.34753	D	0.731983	P;P	0.48230	0.907;0.907	B;B	0.34138	0.176;0.176	T	0.77509	-0.2561	10	0.30078	T	0.28	-12.7407	19.9595	0.97236	0.0:1.0:0.0:0.0	.	369;369	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	369	ENSP00000282041:D369N	ENSP00000282041:D369N	D	-	1	0	EPG5	41786511	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	4.351000	0.59398	2.797000	0.96272	0.563000	0.77884	GAT		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43534889	43534889	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43534889A>C	ENST00000282041.5	-	2	513	c.479T>G	c.(478-480)tTt>tGt	p.F160C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	160					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.F160C(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTATAAGAAAAATTAGATTG	0.403																																					p.F160C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T479G	18						.						77.0	72.0	74.0					18																	43534889		1846	4091	5937	41788887	SO:0001583	missense	57724	exon2			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.479T>G	18.37:g.43534889A>C	ENSP00000282041:p.Phe160Cys		41788887	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	6.169	0.399304	0.11696	.	.	ENSG00000152223	ENST00000282041	T	0.10005	2.92	5.12	2.45	0.29901	.	0.807437	0.11309	N	0.577280	T	0.07503	0.0189	N	0.19112	0.55	0.09310	N	1	B;B	0.28584	0.216;0.216	B;B	0.34385	0.181;0.181	T	0.39461	-0.9613	10	0.36615	T	0.2	-2.2872	4.5346	0.12022	0.6515:0.0:0.3485:0.0	.	160;160	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	C	160	ENSP00000282041:F160C	ENSP00000282041:F160C	F	-	2	0	EPG5	41788887	0.903000	0.30736	0.013000	0.15412	0.019000	0.09904	2.859000	0.48364	0.888000	0.36160	0.421000	0.28195	TTT		0.403	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
PSTPIP2	9050	broad.mit.edu	37	18	43568710	43568710	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43568710G>T	ENST00000409746.5	-	14	1042	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L292I|RN7SKP26_ENST00000410247.1_RNA	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	324						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.L292I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						ATCAACCAAAGAGTAATTGGG	0.348																																					p.S324Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971A	18						.						100.0	95.0	96.0					18																	43568710		2203	4300	6503	41822708	SO:0001583	missense	9050	exon14				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.971C>A	18.37:g.43568710G>T	ENSP00000387261:p.Ser324Tyr		41822708	NM_024430		Missense_Mutation	SNP	ENST00000409746.5	37	CCDS32820.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	2.000001|2.000001	0.35320|0.35320	.|.	.|.	ENSG00000152229|ENSG00000152229	ENST00000360076|ENST00000409746	.|T	.|0.39229	.|1.09	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.253409	.|0.40222	.|N	.|0.001142	T|T	0.52549|0.52549	0.1741|0.1741	M|M	0.64997|0.64997	1.995|1.995	0.21841|0.21841	N|N	0.999513|0.999513	P|P	0.50443|0.38223	0.935|0.623	P|P	0.49752|0.46718	0.621|0.525	T|T	0.53556|0.53556	-0.8422|-0.8422	8|10	0.62326|0.72032	D|D	0.03|0.01	-2.797|-2.797	15.4239|15.4239	0.75035|0.75035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	292|324	Q9H939-2|Q9H939	.|PPIP2_HUMAN	I|Y	292|324	.|ENSP00000387261:S324Y	ENSP00000353189:L292I|ENSP00000387261:S324Y	L|S	-|-	1|2	0|0	PSTPIP2|PSTPIP2	41822708|41822708	0.981000|0.981000	0.34729|0.34729	0.105000|0.105000	0.21289|0.21289	0.001000|0.001000	0.01503|0.01503	5.238000|5.238000	0.65366|0.65366	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.348	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1		
ATP5A1	498	broad.mit.edu	37	18	43669637	43669637	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43669637C>T	ENST00000398752.6	-	5	666	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	ATP5A1_ENST00000590665.1_Missense_Mutation_p.R160Q|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R182Q|ATP5A1_ENST00000593152.2_Missense_Mutation_p.R132Q	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	182					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.R182Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CACTGAAATTCGAGGAATGAT	0.473																																					p.R182Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	18						.						64.0	62.0	62.0					18																	43669637		2203	4300	6503	41923635	SO:0001583	missense	498	exon5			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.545G>A	18.37:g.43669637C>T	ENSP00000381736:p.Arg182Gln		41923635	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728968	0.96856	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.84589	-1.87;-1.87	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	M	0.81942	2.565	0.80722	D	1	D	0.53312	0.959	P	0.52189	0.692	D	0.91834	0.5478	10	0.72032	D	0.01	-3.2668	18.6794	0.91541	0.0:1.0:0.0:0.0	.	182	P25705	ATPA_HUMAN	Q	182;182;132	ENSP00000282050:R182Q;ENSP00000381736:R182Q	ENSP00000282050:R182Q	R	-	2	0	ATP5A1	41923635	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.035000	0.70940	2.411000	0.81874	0.563000	0.77884	CGA		0.473	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
C18orf25	147339	broad.mit.edu	37	18	43796108	43796108	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:43796108G>T	ENST00000282059.6	+	2	636	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	C18orf25_ENST00000321319.6_Missense_Mutation_p.D88Y	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	88								p.D88Y(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TTATGAGAGTGACTCCTCTAA	0.493																																					p.D88Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262T	18						.						129.0	129.0	129.0					18																	43796108		1987	4162	6149	42050106	SO:0001583	missense	147339	exon2			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.262G>T	18.37:g.43796108G>T	ENSP00000282059:p.Asp88Tyr		42050106	NM_001008239	A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860037	0.71834	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77791	0.4183	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77699	-0.2490	9	0.87932	D	0	-12.1407	20.3967	0.98985	0.0:0.0:1.0:0.0	.	88;88	Q96B23-2;Q96B23	.;CR025_HUMAN	Y	88	.	ENSP00000282059:D88Y	D	+	1	0	C18orf25	42050106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.375000	0.97178	2.829000	0.97493	0.655000	0.94253	GAC		0.493	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055	
RNF165	494470	broad.mit.edu	37	18	44027527	44027527	+	Splice_Site	SNP	G	G	A	rs377189495		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44027527G>A	ENST00000269439.7	+	4	538	c.487G>A	c.(487-489)Gat>Aat	p.D163N	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	163							zinc ion binding (GO:0008270)	p.D163N(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCCCTGCAGGGATCTCAGTGT	0.527																																					p.D163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	18						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	175.0	151.0	159.0		487	5.7	1.0	18		159	0,8600		0,0,4300	no	missense-near-splice	RNF165	NM_152470.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	163/347	44027527	1,13005	2203	4300	6503	42281525	SO:0001630	splice_region_variant	494470	exon4			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.486-1G>A	18.37:g.44027527G>A			42281525	NM_152470	B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139784	0.77775	2.27E-4	0.0	ENSG00000141622	ENST00000269439	T	0.18810	2.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.31294	0.92	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.01520	-1.1334	10	0.33141	T	0.24	-3.9662	18.0995	0.89501	0.0:0.0:1.0:0.0	.	163	Q6ZSG1	RN165_HUMAN	N	163	ENSP00000269439:D163N	ENSP00000269439:D163N	D	+	1	0	RNF165	42281525	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.500000	0.81588	2.712000	0.92718	0.561000	0.74099	GAT		0.527	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	Missense_Mutation
RNF165	494470	broad.mit.edu	37	18	44036015	44036015	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44036015T>C	ENST00000269439.7	+	7	946	c.895T>C	c.(895-897)Tct>Cct	p.S299P	RNF165_ENST00000543885.1_Missense_Mutation_p.S107P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	299							zinc ion binding (GO:0008270)	p.S299P(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AATTTGTCTGTCTATGCTGGA	0.498																																					p.S299P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T895C	18						.						147.0	109.0	122.0					18																	44036015		2203	4300	6503	42290013	SO:0001583	missense	494470	exon7			BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.895T>C	18.37:g.44036015T>C	ENSP00000269439:p.Ser299Pro		42290013	NM_152470	B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797754	0.90538	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.45668	0.89;0.89	5.11	5.11	0.69529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.073964	0.56097	D	0.000037	T	0.68943	0.3056	M	0.88640	2.97	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	T	0.75039	-0.3458	10	0.54805	T	0.06	.	14.571	0.68210	0.0:0.0:0.0:1.0	.	299	Q6ZSG1	RN165_HUMAN	P	299;107	ENSP00000269439:S299P;ENSP00000444285:S107P	ENSP00000269439:S299P	S	+	1	0	RNF165	42290013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.932000	0.55993	0.397000	0.26171	TCT		0.498	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	
ST8SIA5	29906	broad.mit.edu	37	18	44284627	44284627	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44284627C>A	ENST00000315087.7	-	2	792	c.132G>T	c.(130-132)agG>agT	p.R44S	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Splice_Site_p.R80S|ST8SIA5_ENST00000536490.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	44					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R44S(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ATTCAAAGTACCTGGGGACCA	0.498																																					p.R44S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G132T	18						.						85.0	85.0	85.0					18																	44284627		2203	4300	6503	42538625	SO:0001630	splice_region_variant	29906	exon2			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.132-1G>T	18.37:g.44284627C>A			42538625	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005904	0.54254	.	.	ENSG00000101638	ENST00000315087;ENST00000538168	T;T	0.54279	1.03;0.58	4.48	4.48	0.54585	.	0.106321	0.64402	D	0.000004	T	0.51432	0.1674	M	0.61703	1.905	0.80722	D	1	B;B	0.25390	0.125;0.023	B;B	0.23018	0.043;0.019	T	0.53099	-0.8486	10	0.41790	T	0.15	.	16.3392	0.83076	0.0:1.0:0.0:0.0	.	80;44	B7Z1K9;O15466	.;SIA8E_HUMAN	S	44;80	ENSP00000321343:R44S;ENSP00000445492:R80S	ENSP00000321343:R44S	R	-	3	2	ST8SIA5	42538625	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.519000	0.67074	2.222000	0.72286	0.561000	0.74099	AGG		0.498	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	Missense_Mutation
ST8SIA5	29906	broad.mit.edu	37	18	44336408	44336408	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44336408A>C	ENST00000315087.7	-	1	724	c.64T>G	c.(64-66)Ttc>Gtc	p.F22V	RP11-742D12.2_ENST00000602329.1_RNA|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.F22V|RP11-742D12.2_ENST00000602333.1_RNA|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.F22V	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	22					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.F22V(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCGCAGATGAAGATGAAGAGC	0.607																																					p.F22V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T64G	18						.						108.0	101.0	103.0					18																	44336408		2203	4300	6503	42590406	SO:0001583	missense	29906	exon1			U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.64T>G	18.37:g.44336408A>C	ENSP00000321343:p.Phe22Val		42590406	NM_013305	B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936072	0.92458	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.55234	0.53;0.53;0.53	4.97	4.97	0.65823	.	0.061472	0.64402	D	0.000002	T	0.61974	0.2390	L	0.32530	0.975	0.47183	D	0.999343	D;D;D;P	0.89917	1.0;1.0;0.999;0.518	D;D;D;B	0.85130	0.997;0.996;0.991;0.24	T	0.63620	-0.6596	10	0.49607	T	0.09	.	14.3085	0.66400	1.0:0.0:0.0:0.0	.	22;22;22;22	F5H8D1;B7Z1K9;B7Z5F7;O15466	.;.;.;SIA8E_HUMAN	V	22	ENSP00000321343:F22V;ENSP00000445492:F22V;ENSP00000443683:F22V	ENSP00000321343:F22V	F	-	1	0	ST8SIA5	42590406	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.200000	0.77838	1.866000	0.54105	0.379000	0.24179	TTC		0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305	
PIAS2	9063	broad.mit.edu	37	18	44395301	44395301	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44395301G>T	ENST00000585916.1	-	13	1659	c.1660C>A	c.(1660-1662)Ctt>Att	p.L554I		NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	554					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L554I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATAAGGGAAAGAAAATCCAAA	0.308																																					p.L554I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660A	18						.						115.0	120.0	118.0					18																	44395301		2203	4299	6502	42649299	SO:0001583	missense	9063	exon13			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1660C>A	18.37:g.44395301G>T	ENSP00000465676:p.Leu554Ile		42649299	NM_004671	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017479	0.75161	.	.	ENSG00000078043	ENST00000398654;ENST00000262161	.	.	.	5.81	5.81	0.92471	.	0.051265	0.85682	D	0.000000	T	0.52289	0.1725	L	0.43152	1.355	0.80722	D	1	P	0.42248	0.774	B	0.38327	0.271	T	0.56238	-0.8012	9	0.54805	T	0.06	-16.2627	17.2393	0.87008	0.0:0.0:1.0:0.0	.	554	O75928	PIAS2_HUMAN	I	554	.	ENSP00000262161:L554I	L	-	1	0	PIAS2	42649299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.153000	0.71819	2.756000	0.94617	0.655000	0.94253	CTT		0.308	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671	
TCEB3B	51224	broad.mit.edu	37	18	44559634	44559634	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44559634C>T	ENST00000332567.4	-	1	2354	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	668					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E668K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCCCATTTTCGGGGTCAGCG	0.577																																					p.E668K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2002A	18						.						74.0	79.0	77.0					18																	44559634		2203	4299	6502	42813632	SO:0001583	missense	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2002G>A	18.37:g.44559634C>T	ENSP00000331302:p.Glu668Lys		42813632	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818922	0.16607	.	.	ENSG00000206181	ENST00000332567	T	0.08370	3.1	1.26	0.355	0.16069	.	1.475580	0.05026	N	0.473715	T	0.07638	0.0192	L	0.54323	1.7	0.09310	N	1	B	0.32382	0.368	B	0.21151	0.033	T	0.37314	-0.9711	10	0.29301	T	0.29	0.1151	3.5803	0.07950	0.0:0.7358:0.0:0.2642	.	668	Q8IYF1	ELOA2_HUMAN	K	668	ENSP00000331302:E668K	ENSP00000331302:E668K	E	-	1	0	TCEB3B	42813632	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.145000	0.16157	0.102000	0.17638	-0.192000	0.12808	GAA		0.577	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
TCEB3B	51224	broad.mit.edu	37	18	44561564	44561564	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44561564C>T	ENST00000332567.4	-	1	424	c.72G>A	c.(70-72)ccG>ccA	p.P24P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	24	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P24P(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAGCTTTTTCGGCTCCGTCT	0.587																																					p.P24P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	18						.						49.0	48.0	48.0					18																	44561564		2203	4298	6501	42815562	SO:0001819	synonymous_variant	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.72G>A	18.37:g.44561564C>T			42815562	NM_016427	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																				0.587	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
KATNAL2	83473	broad.mit.edu	37	18	44595969	44595969	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:44595969C>T	ENST00000245121.5	+	10	984	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R336W|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.R264W(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAAACTCGTTCGGGTAGGAAT	0.368																																					p.R264W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C790T	18						.						65.0	62.0	63.0					18																	44595969		2203	4300	6503	42849967	SO:0001583	missense	83473	exon10			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.790C>T	18.37:g.44595969C>T	ENSP00000245121:p.Arg264Trp		42849967	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291167	0.59976	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.94417	-3.42;-3.42	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.98701	4.305	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	-11.2445	15.5906	0.76523	0.1382:0.8617:0.0:0.0	.	336	Q8IYT4	KATL2_HUMAN	W	336;264;104	ENSP00000348478:R336W;ENSP00000245121:R264W	ENSP00000245121:R264W	R	+	1	2	KATNAL2	42849967	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	2.362000	0.44169	2.738000	0.93877	0.655000	0.94253	CGG		0.368	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
SMAD2	4087	broad.mit.edu	37	18	45374945	45374945	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:45374945C>T	ENST00000402690.2	-	8	1292	c.898G>A	c.(898-900)Gat>Aat	p.D300N	SMAD2_ENST00000356825.4_Missense_Mutation_p.D270N|SMAD2_ENST00000591214.1_Missense_Mutation_p.D270N|SMAD2_ENST00000262160.6_Missense_Mutation_p.D300N|SMAD2_ENST00000586040.1_Missense_Mutation_p.D270N	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	300	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		D -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.D300N(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GTAAAGCCATCTACAGTGAGT	0.418																																					p.D270N												SMAD2,large_intestine,colon,Substitution - Missense,+1	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	18						.						124.0	111.0	116.0					18																	45374945		2203	4300	6503	43628943	SO:0001583	missense	4087	exon7			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.898G>A	18.37:g.45374945C>T	ENSP00000384449:p.Asp300Asn		43628943	NM_001135937		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673172	0.96754	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.98090	-4.71;-4.71;-4.71	5.81	5.81	0.92471	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.089852	0.85682	D	0.000000	D	0.99214	0.9727	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.99019	1.0817	10	0.87932	D	0	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	270;270;300	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	N	300;270;300	ENSP00000262160:D300N;ENSP00000349282:D270N;ENSP00000384449:D300N	ENSP00000262160:D300N	D	-	1	0	SMAD2	43628943	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.045000	0.71020	2.746000	0.94184	0.591000	0.81541	GAT		0.418	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
ZBTB7C	201501	broad.mit.edu	37	18	45567259	45567259	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:45567259C>T	ENST00000588982.1	-	3	721	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.V74I|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.V74I|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.V74I|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.V74I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.V74I(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCTCATAGACGTAGGGCTGG	0.587																																					p.V74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	18						.						66.0	63.0	64.0					18																	45567259		2203	4300	6503	43821257	SO:0001583	missense	201501	exon2			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.220G>A	18.37:g.45567259C>T	ENSP00000468782:p.Val74Ile		43821257	NM_001039360	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805829	0.31961	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.67523	-0.27;-0.27	5.04	4.16	0.48862	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.059752	0.64402	D	0.000003	T	0.54532	0.1864	L	0.45228	1.405	0.42202	D	0.991777	B;B;B	0.29716	0.071;0.255;0.255	B;B;B	0.23018	0.043;0.029;0.017	T	0.54583	-0.8272	10	0.48119	T	0.1	.	9.6616	0.39958	0.0:0.8389:0.0:0.1611	.	74;74;74	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	I	74	ENSP00000439781:V74I;ENSP00000328732:V74I	ENSP00000328732:V74I	V	-	1	0	ZBTB7C	43821257	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	4.919000	0.63383	1.107000	0.41642	0.561000	0.74099	GTC		0.587	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360	
C18orf32	497661	broad.mit.edu	37	18	47008741	47008741	+	Nonsense_Mutation	SNP	C	C	A	rs144700640		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47008741C>A	ENST00000318240.3	-	3	416	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	RPL17-C18orf32_ENST00000332968.6_3'UTR|RP11-110H1.4_ENST00000580150.1_RNA|C18orf32_ENST00000582392.1_Nonsense_Mutation_p.E69*|C18orf32_ENST00000579820.1_Nonsense_Mutation_p.E69*|RPL17-C18orf32_ENST00000584895.1_3'UTR	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	69					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)	p.E69*(1)		large_intestine(2)|lung(1)	3						TCACAGATTTCTGTTGGTCCT	0.353																																					p.E69X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G205T	18						.						109.0	115.0	113.0					18																	47008741		2202	4298	6500	45262739	SO:0001587	stop_gained	497661	exon3			AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.205G>T	18.37:g.47008741C>A	ENSP00000323199:p.Glu69*		45262739	NM_001199346		3'UTR	SNP	ENST00000318240.3	37	CCDS32831.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258028	0.80246	.	.	ENSG00000177576	ENST00000318240	.	.	.	5.69	5.69	0.88448	.	0.297182	0.27060	U	0.021125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-28.6768	17.5895	0.87992	0.0:1.0:0.0:0.0	.	.	.	.	X	69	.	ENSP00000323199:E69X	E	-	1	0	C18orf32	45262739	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	2.291000	0.43540	2.683000	0.91414	0.655000	0.94253	GAA		0.353	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005	
C18orf32	497661	broad.mit.edu	37	18	47009989	47009989	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47009989A>G	ENST00000318240.3	-	2	341	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P	RPL17-C18orf32_ENST00000332968.6_Silent_p.N182N|RP11-110H1.4_ENST00000580150.1_RNA|C18orf32_ENST00000582392.1_Missense_Mutation_p.S44P|C18orf32_ENST00000579820.1_Missense_Mutation_p.S44P|RPL17-C18orf32_ENST00000584895.1_Silent_p.N220N	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	44					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)		signal transducer activity (GO:0004871)	p.S44P(1)		large_intestine(2)|lung(1)	3						GTATCATTGGATTCTTGTATT	0.403																																					p.S44P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T130C	18						.						251.0	229.0	236.0					18																	47009989		2203	4300	6503	45263987	SO:0001583	missense	497661	exon2			AK027111	CCDS32831.1	18q21.1	2012-10-24			ENSG00000177576	ENSG00000177576			31690	protein-coding gene	gene with protein product							Standard	NM_001035005		Approved	FLJ23458	uc002ldl.3	Q8TCD1	OTTHUMG00000179688	ENST00000318240.3:c.130T>C	18.37:g.47009989A>G	ENSP00000323199:p.Ser44Pro		45263987	NM_001199346		Silent	SNP	ENST00000318240.3	37	CCDS32831.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642121	0.29157	.	.	ENSG00000177576	ENST00000318240	T	0.41758	0.99	5.63	-10.2	0.00374	.	0.419661	0.22054	U	0.065279	T	0.16769	0.0403	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.04041	-1.0982	9	0.45353	T	0.12	0.0757	2.5891	0.04838	0.1128:0.2225:0.1736:0.4911	.	44	Q8TCD1	CR032_HUMAN	P	44	ENSP00000323199:S44P	ENSP00000323199:S44P	S	-	1	0	C18orf32	45263987	0.002000	0.14202	0.005000	0.12908	0.374000	0.29953	-0.392000	0.07314	-0.928000	0.03761	-0.301000	0.09380	TCC		0.403	C18orf32-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447656.1	NM_001035005	
MYO5B	4645	broad.mit.edu	37	18	47352920	47352920	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47352920G>T	ENST00000285039.7	-	40	5767	c.5468C>A	c.(5467-5469)cCa>cAa	p.P1823Q	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.P146Q|MYO5B_ENST00000592688.1_Missense_Mutation_p.P393Q|MYO5B_ENST00000324581.6_Missense_Mutation_p.P938Q|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1823					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.P1823Q(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGATTAAATGGAAACAAAAC	0.423																																					p.P1823Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5468A	18						.						129.0	117.0	121.0					18																	47352920		1910	4136	6046	45606918	SO:0001583	missense	4645	exon40			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5468C>A	18.37:g.47352920G>T	ENSP00000285039:p.Pro1823Gln		45606918	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724866	0.89298	.	.	ENSG00000167306	ENST00000285039;ENST00000356732;ENST00000324581	D;T	0.87729	-2.29;2.17	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94005	0.7279	10	0.59425	D	0.04	.	18.9053	0.92458	0.0:0.0:1.0:0.0	.	1823;938	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	Q	1823;695;938	ENSP00000285039:P1823Q;ENSP00000315531:P938Q	ENSP00000285039:P1823Q	P	-	2	0	MYO5B	45606918	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.600000	0.90860	2.802000	0.96397	0.650000	0.86243	CCA		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MYO5B	4645	broad.mit.edu	37	18	47390703	47390703	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47390703A>G	ENST00000285039.7	-	28	3950	c.3651T>C	c.(3649-3651)aaT>aaC	p.N1217N	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.N358N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1217					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.N1217N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCTCAGCTCATTCAGGTCAT	0.582																																					p.N1217N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3651C	18						.						138.0	148.0	145.0					18																	47390703		2010	4174	6184	45644701	SO:0001819	synonymous_variant	4645	exon28			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3651T>C	18.37:g.47390703A>G			45644701	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MYO5B	4645	broad.mit.edu	37	18	47398567	47398567	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47398567C>T	ENST00000285039.7	-	27	3872	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	Y_RNA_ENST00000364798.1_RNA|MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.P332P	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1191					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.P1191P(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATCTGCATTCGGGTCCAAAT	0.507																																					p.P1191P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3573A	18						.						356.0	343.0	347.0					18																	47398567		1953	4136	6089	45652565	SO:0001819	synonymous_variant	4645	exon27			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3573G>A	18.37:g.47398567C>T			45652565	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MYO5B	4645	broad.mit.edu	37	18	47406797	47406797	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47406797G>A	ENST00000285039.7	-	23	3373	c.3074C>T	c.(3073-3075)gCt>gTt	p.A1025V	MYO5B_ENST00000324581.6_Missense_Mutation_p.A166V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1025					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.A1025V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTTCAAGAGAGCATTTTCTTG	0.438																																					p.A1025V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3074T	18						.						213.0	219.0	217.0					18																	47406797		1859	4096	5955	45660795	SO:0001583	missense	4645	exon23			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3074C>T	18.37:g.47406797G>A	ENSP00000285039:p.Ala1025Val		45660795	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802711	0.50315	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.19394	2.15;2.15	5.39	5.39	0.77823	.	0.059053	0.64402	D	0.000002	T	0.21062	0.0507	L	0.55481	1.735	0.50813	D	0.999896	B;B	0.25563	0.01;0.129	B;B	0.22152	0.009;0.038	T	0.02042	-1.1224	10	0.31617	T	0.26	.	12.447	0.55657	0.0815:0.0:0.9185:0.0	.	1025;166	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	V	1025;166	ENSP00000285039:A1025V;ENSP00000315531:A166V	ENSP00000285039:A1025V	A	-	2	0	MYO5B	45660795	1.000000	0.71417	0.981000	0.43875	0.857000	0.48899	5.517000	0.67061	2.684000	0.91462	0.650000	0.86243	GCT		0.438	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MYO5B	4645	broad.mit.edu	37	18	47518664	47518664	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:47518664G>T	ENST00000285039.7	-	6	1049	c.750C>A	c.(748-750)gtC>gtA	p.V250V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	250	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V250V(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCACCTGGAAGACCACTCTGG	0.502																																					p.V250V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C750A	18						.						206.0	196.0	199.0					18																	47518664		1952	4147	6099	45772662	SO:0001819	synonymous_variant	4645	exon6			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.750C>A	18.37:g.47518664G>T			45772662	NM_001080467	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
COLEC12	81035	broad.mit.edu	37	18	480712	480712	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:480712C>A	ENST00000400256.3	-	2	260	c.53G>T	c.(52-54)cGg>cTg	p.R18L		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	18					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.R18L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTCACCAAACCGCTTGTAACC	0.547																																					p.R18L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53T	18						.						222.0	138.0	166.0					18																	480712		2203	4300	6503	470712	SO:0001583	missense	81035	exon2			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.53G>T	18.37:g.480712C>A	ENSP00000383115:p.Arg18Leu		470712	NM_130386	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915801	0.73098	.	.	ENSG00000158270	ENST00000400256	D	0.89270	-2.49	5.77	5.77	0.91146	.	0.229198	0.39615	N	0.001318	T	0.79885	0.4523	N	0.19112	0.55	0.49915	D	0.999837	P	0.35401	0.499	B	0.21151	0.033	T	0.81686	-0.0820	10	0.66056	D	0.02	-11.7624	15.553	0.76167	0.0:1.0:0.0:0.0	.	18	Q5KU26	COL12_HUMAN	L	18	ENSP00000383115:R18L	ENSP00000383115:R18L	R	-	2	0	COLEC12	470712	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.106000	0.57804	2.733000	0.93635	0.650000	0.86243	CGG		0.547	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
ELAC1	55520	broad.mit.edu	37	18	48510836	48510836	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:48510836A>C	ENST00000269466.3	+	3	635	c.528A>C	c.(526-528)aaA>aaC	p.K176N	RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.K176N|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	176					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)	p.K176N(1)		kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TTGTTGTAAAAGCATTTCGCC	0.408																																					p.K176N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A528C	18						.						64.0	63.0	63.0					18																	48510836		2203	4300	6503	46764834	SO:0001583	missense	55520	exon3			AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.528A>C	18.37:g.48510836A>C	ENSP00000269466:p.Lys176Asn		46764834	NM_018696	Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115562	0.37339	.	.	ENSG00000141642	ENST00000269466	T	0.76709	-1.04	5.95	3.58	0.41010	Beta-lactamase-like (1);	0.042326	0.85682	D	0.000000	T	0.66356	0.2781	L	0.46819	1.47	0.80722	D	1	P;B	0.38223	0.623;0.283	B;B	0.34180	0.177;0.177	T	0.58836	-0.7566	10	0.28530	T	0.3	.	8.4672	0.32964	0.7769:0.0:0.2231:0.0	.	176;176	Q53EY2;Q9H777	.;RNZ1_HUMAN	N	176	ENSP00000269466:K176N	ENSP00000269466:K176N	K	+	3	2	ELAC1	46764834	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.790000	0.38734	0.513000	0.28278	0.528000	0.53228	AAA		0.408	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2		
DCC	1630	broad.mit.edu	37	18	50278472	50278472	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:50278472C>A	ENST00000442544.2	+	2	756	c.140C>A	c.(139-141)tCt>tAt	p.S47Y	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	47	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.S47Y(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAGAACCTTCTGATGCCGTC	0.473																																					p.S47Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C140A	18						.						56.0	57.0	57.0					18																	50278472		2203	4300	6503	48532470	SO:0001583	missense	1630	exon2			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.140C>A	18.37:g.50278472C>A	ENSP00000389140:p.Ser47Tyr		48532470	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223683	0.79576	.	.	ENSG00000187323	ENST00000442544	T	0.13538	2.58	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.255515	0.35349	N	0.003269	T	0.36413	0.0966	M	0.77712	2.385	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.07558	-1.0766	10	0.62326	D	0.03	.	18.5252	0.90969	0.0:1.0:0.0:0.0	.	47	P43146	DCC_HUMAN	Y	47	ENSP00000389140:S47Y	ENSP00000389140:S47Y	S	+	2	0	DCC	48532470	0.009000	0.17119	0.995000	0.50966	0.992000	0.81027	1.861000	0.39438	2.676000	0.91093	0.655000	0.94253	TCT		0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
DCC	1630	broad.mit.edu	37	18	50589685	50589685	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:50589685G>T	ENST00000442544.2	+	6	1612	c.996G>T	c.(994-996)tgG>tgT	p.W332C	DCC_ENST00000581580.1_5'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.W180C|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	332	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.W332C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTCCGCCATGGTTTTTAAATC	0.433																																					p.W332C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G996T	18						.						240.0	239.0	239.0					18																	50589685		2203	4300	6503	48843683	SO:0001583	missense	1630	exon6			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.996G>T	18.37:g.50589685G>T	ENSP00000389140:p.Trp332Cys		48843683	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400214	0.42613	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.81659	-1.52;-1.52	5.82	5.82	0.92795	Immunoglobulin-like (1);	0.157934	0.45361	D	0.000379	T	0.67373	0.2886	N	0.08118	0	0.80722	D	1	P;P	0.50156	0.932;0.871	B;B	0.40444	0.329;0.329	T	0.74203	-0.3741	10	0.54805	T	0.06	.	18.8681	0.92301	0.0:0.0:1.0:0.0	.	180;332	E7EQM8;P43146	.;DCC_HUMAN	C	332;265;180	ENSP00000389140:W332C;ENSP00000397322:W180C	ENSP00000304146:W265C	W	+	3	0	DCC	48843683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.996000	0.63914	2.753000	0.94483	0.557000	0.71058	TGG		0.433	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
POLI	11201	broad.mit.edu	37	18	51797787	51797787	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:51797787T>A	ENST00000579534.1	+	2	316	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLI_ENST00000406285.3_Missense_Mutation_p.V58E|POLI_ENST00000579434.1_Intron|POLI_ENST00000217800.5_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	58	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.V33E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ATAGTACATGTGGATCTGGAT	0.348								DNA polymerases (catalytic subunits)																													p.V58E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T173A	18						.						112.0	103.0	106.0					18																	51797787		2203	4300	6503	50051785	SO:0001583	missense	11201	exon2				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.173T>A	18.37:g.51797787T>A	ENSP00000462664:p.Val58Glu		50051785	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344463	0.82022	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.79653	-1.29	5.14	5.14	0.70334	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.280184	0.35708	N	0.003028	D	0.90055	0.6894	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.78314	0.972;0.991	D	0.91681	0.5358	10	0.87932	D	0	-2.5011	13.9687	0.64225	0.0:0.0:0.0:1.0	.	57;58	B7Z780;Q9UNA4	.;POLI_HUMAN	E	58	ENSP00000385196:V58E	ENSP00000217800:V58E	V	+	2	0	POLI	50051785	1.000000	0.71417	0.953000	0.39169	0.980000	0.70556	4.879000	0.63100	1.931000	0.55961	0.460000	0.39030	GTG		0.348	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
POLI	11201	broad.mit.edu	37	18	51820704	51820704	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:51820704C>A	ENST00000579534.1	+	10	2233	c.2090C>A	c.(2089-2091)tCt>tAt	p.S697Y	POLI_ENST00000406285.3_Missense_Mutation_p.S618Y|POLI_ENST00000579434.1_Missense_Mutation_p.S594Y|POLI_ENST00000217800.5_Missense_Mutation_p.S571Y	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	697					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S672Y(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GAGCCAGATTCTGTTGATGAG	0.408								DNA polymerases (catalytic subunits)																													p.S697Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2090A	18						.						76.0	75.0	76.0					18																	51820704		2203	4300	6503	50074702	SO:0001583	missense	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.2090C>A	18.37:g.51820704C>A	ENSP00000462664:p.Ser697Tyr		50074702	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	5.054	0.195621	0.09599	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.52983	0.64	5.5	2.76	0.32466	.	0.967076	0.08604	N	0.920982	T	0.44685	0.1305	M	0.70595	2.14	0.09310	N	1	P;P	0.38582	0.638;0.638	B;B	0.34242	0.178;0.178	T	0.33979	-0.9847	10	0.51188	T	0.08	-2.8454	6.7403	0.23433	0.0:0.6952:0.1461:0.1587	.	617;697	B7Z780;Q9UNA4	.;POLI_HUMAN	Y	618;697	ENSP00000385196:S618Y	ENSP00000217800:S697Y	S	+	2	0	POLI	50074702	0.000000	0.05858	0.002000	0.10522	0.733000	0.41908	-0.244000	0.08903	0.375000	0.24679	0.650000	0.86243	TCT		0.408	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
TCF4	6925	broad.mit.edu	37	18	52928698	52928698	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:52928698G>A	ENST00000356073.4	-	12	1600	c.989C>T	c.(988-990)tCg>tTg	p.S330L	TCF4_ENST00000544241.2_Splice_Site_p.S259L|TCF4_ENST00000565018.2_Splice_Site_p.S330L|TCF4_ENST00000543082.1_Splice_Site_p.S288L|TCF4_ENST00000564228.1_Splice_Site_p.S259L|TCF4_ENST00000566286.1_Splice_Site_p.S328L|TCF4_ENST00000568740.1_Splice_Site_p.S305L|TCF4_ENST00000570287.2_Splice_Site_p.S170L|TCF4_ENST00000564403.2_Splice_Site_p.S336L|TCF4_ENST00000561831.3_Splice_Site_p.S170L|TCF4_ENST00000457482.3_Splice_Site_p.S170L|TCF4_ENST00000398339.1_Splice_Site_p.S432L|TCF4_ENST00000540999.1_Splice_Site_p.S306L|TCF4_ENST00000561992.1_Splice_Site_p.S200L|TCF4_ENST00000537856.3_Splice_Site_p.S200L|TCF4_ENST00000537578.1_Splice_Site_p.S306L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000567880.1_Splice_Site_p.S270L|TCF4_ENST00000570177.2_Splice_Site_p.S200L|TCF4_ENST00000566279.1_Splice_Site_p.S270L|TCF4_ENST00000564999.1_Splice_Site_p.S330L|TCF4_ENST00000354452.3_Splice_Site_p.S330L|TCF4_ENST00000568673.1_Splice_Site_p.S306L	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	330					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.S330L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCCTCACCGAAGCAAGTGC	0.433																																					p.S330L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C989T	18						.						194.0	215.0	208.0					18																	52928698		2203	4300	6503	51079696	SO:0001630	splice_region_variant	6925	exon12			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.990+1C>T	18.37:g.52928698G>A			51079696	NM_001083962	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288218	0.95517	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.98;0.999;0.999;0.997;0.983;0.999;0.995;0.995;0.997	T	0.76822	-0.2817	10	0.87932	D	0	-5.892	19.2296	0.93833	0.0:0.0:1.0:0.0	.	306;330;170;432;330;288;259;170;328	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	L	330;170;330;288;306;306;259;200;432	ENSP00000346440:S330L;ENSP00000409447:S170L;ENSP00000348374:S330L;ENSP00000439656:S288L;ENSP00000445202:S306L;ENSP00000440731:S306L;ENSP00000441562:S259L;ENSP00000439827:S200L;ENSP00000381382:S432L	ENSP00000346440:S330L	S	-	2	0	TCF4	51079696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.069000	0.93967	2.835000	0.97688	0.650000	0.86243	TCG		0.433	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	Missense_Mutation
WDR7	23335	broad.mit.edu	37	18	54358452	54358452	+	Silent	SNP	C	C	T	rs562541697		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:54358452C>T	ENST00000254442.3	+	8	934	c.723C>T	c.(721-723)ttC>ttT	p.F241F	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.F241F	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	241					hematopoietic progenitor cell differentiation (GO:0002244)			p.F241F(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGGTGTTCGATGCCGGAG	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16671	0.0		0.0	False		,,,				2504	0.001				p.F241F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	18						.						119.0	128.0	125.0					18																	54358452		2203	4300	6503	52509450	SO:0001819	synonymous_variant	23335	exon8			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.723C>T	18.37:g.54358452C>T			52509450	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	CCDS11962.1																																																																																				0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
WDR7	23335	broad.mit.edu	37	18	54363551	54363551	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:54363551G>A	ENST00000254442.3	+	12	1647	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R479Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	479					hematopoietic progenitor cell differentiation (GO:0002244)			p.R479Q(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTCTCAGCTCGGTATGATCAA	0.418																																					p.R479Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	18						.						144.0	126.0	132.0					18																	54363551		2203	4300	6503	52514549	SO:0001583	missense	23335	exon12			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1436G>A	18.37:g.54363551G>A	ENSP00000254442:p.Arg479Gln		52514549	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	36	5.655086	0.96724	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69685	-0.42;-0.4	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.968;0.994	T	0.74945	-0.3491	10	0.42905	T	0.14	.	19.8551	0.96755	0.0:0.0:1.0:0.0	.	479;479	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	479	ENSP00000254442:R479Q;ENSP00000350187:R479Q	ENSP00000254442:R479Q	R	+	2	0	WDR7	52514549	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.619000	0.98369	2.861000	0.98227	0.655000	0.94253	CGG		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
WDR7	23335	broad.mit.edu	37	18	54385328	54385328	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:54385328C>A	ENST00000254442.3	+	13	1923	c.1712C>A	c.(1711-1713)tCt>tAt	p.S571Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.S571Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	571					hematopoietic progenitor cell differentiation (GO:0002244)			p.S571Y(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGAGGCCTTCTGATGATTAC	0.398																																					p.S571Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1712A	18						.						188.0	169.0	176.0					18																	54385328		2203	4300	6503	52536326	SO:0001583	missense	23335	exon13			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1712C>A	18.37:g.54385328C>A	ENSP00000254442:p.Ser571Tyr		52536326	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964605	0.18583	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.05258	3.47;3.47	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.179185	0.49916	D	0.000135	T	0.09862	0.0242	N	0.08118	0	0.41136	D	0.985925	D;D	0.61080	0.965;0.989	P;P	0.60541	0.617;0.876	T	0.53236	-0.8467	10	0.22706	T	0.39	.	19.1709	0.93576	0.0:1.0:0.0:0.0	.	571;571	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Y	571	ENSP00000254442:S571Y;ENSP00000350187:S571Y	ENSP00000254442:S571Y	S	+	2	0	WDR7	52536326	0.988000	0.35896	0.981000	0.43875	0.896000	0.52359	3.808000	0.55598	2.632000	0.89209	0.655000	0.94253	TCT		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
ST8SIA3	51046	broad.mit.edu	37	18	55024316	55024316	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55024316T>C	ENST00000324000.3	+	3	2509	c.475T>C	c.(475-477)Tat>Cat	p.Y159H		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	159					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.Y159H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GAACAAGCATTATAATATTTG	0.383																																					p.Y159H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T475C	18						.						113.0	118.0	116.0					18																	55024316		2203	4300	6503	53175314	SO:0001583	missense	51046	exon3			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.475T>C	18.37:g.55024316T>C	ENSP00000320431:p.Tyr159His		53175314	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493718	0.44352	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.31247	1.5	5.96	5.96	0.96718	.	0.051843	0.85682	D	0.000000	T	0.32224	0.0822	L	0.45470	1.425	0.58432	D	0.999998	P	0.43788	0.817	B	0.41988	0.372	T	0.03231	-1.1058	10	0.37606	T	0.19	-18.1709	16.1099	0.81255	0.0:0.0:0.0:1.0	.	159	O43173	SIA8C_HUMAN	H	266;159	ENSP00000320431:Y159H	ENSP00000320431:Y159H	Y	+	1	0	ST8SIA3	53175314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.677000	0.84024	2.285000	0.76669	0.533000	0.62120	TAT		0.383	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
ST8SIA3	51046	broad.mit.edu	37	18	55024402	55024402	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55024402C>T	ENST00000324000.3	+	3	2595	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	187					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F187F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTTTGTTTTCCGTTGCAATT	0.403																																					p.F187F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	18						.						86.0	91.0	89.0					18																	55024402		2203	4300	6503	53175400	SO:0001819	synonymous_variant	51046	exon3			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.561C>T	18.37:g.55024402C>T			53175400	NM_015879	A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	CCDS32834.1																																																																																				0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
ST8SIA3	51046	broad.mit.edu	37	18	55027403	55027403	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55027403T>G	ENST00000324000.3	+	4	3072	c.1038T>G	c.(1036-1038)ttT>ttG	p.F346L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	346					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F346L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GAACCAAATTTACCACCAAGT	0.488																																					p.F346L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1038G	18						.						88.0	78.0	81.0					18																	55027403		2203	4300	6503	53178401	SO:0001583	missense	51046	exon4			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.1038T>G	18.37:g.55027403T>G	ENSP00000320431:p.Phe346Leu		53178401	NM_015879	A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885119	0.72410	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.28069	1.63	6.11	2.21	0.28008	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.31207	0.915	0.58432	D	0.999997	P	0.46784	0.884	P	0.54815	0.761	T	0.03287	-1.1052	10	0.13470	T	0.59	-3.2426	9.4409	0.38668	0.0:0.4069:0.0:0.5931	.	346	O43173	SIA8C_HUMAN	L	453;346	ENSP00000320431:F346L	ENSP00000320431:F346L	F	+	3	2	ST8SIA3	53178401	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.565000	0.23578	0.128000	0.18479	0.533000	0.62120	TTT		0.488	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
FECH	2235	broad.mit.edu	37	18	55238688	55238688	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55238688C>A	ENST00000262093.5	-	4	550	c.399G>T	c.(397-399)aaG>aaT	p.K133N	FECH_ENST00000382873.3_Missense_Mutation_p.K139N|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	133					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.K139N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				AAGTCCATATCTTGATGGGGG	0.478																																					p.K139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	18						.						127.0	111.0	116.0					18																	55238688		2203	4300	6503	53389686	SO:0001583	missense	2235	exon4			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.399G>T	18.37:g.55238688C>A	ENSP00000262093:p.Lys133Asn		53389686	NM_001012515	A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760728	0.69763	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96459	-4.02;-4.02	5.79	3.69	0.42338	.	0.089542	0.85682	D	0.000000	D	0.93946	0.8062	N	0.20574	0.59	0.42263	D	0.99202	D;D	0.56035	0.974;0.968	P;P	0.54026	0.74;0.622	D	0.93503	0.6846	10	0.51188	T	0.08	-28.1679	10.6364	0.45567	0.0:0.7696:0.0:0.2304	.	133;139	P22830;P22830-2	HEMH_HUMAN;.	N	133;139	ENSP00000262093:K133N;ENSP00000372326:K139N	ENSP00000262093:K133N	K	-	3	2	FECH	53389686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.294000	0.33365	1.467000	0.48044	0.561000	0.74099	AAG		0.478	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1		
NARS	4677	broad.mit.edu	37	18	55283076	55283076	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55283076C>T	ENST00000256854.5	-	3	680	c.225G>A	c.(223-225)atG>atA	p.M75I	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	75					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.M75I(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	ATTCACTCTTCATTTGTTCCC	0.383																																					p.M75I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225A	18						.						218.0	208.0	211.0					18																	55283076		2203	4300	6503	53434074	SO:0001583	missense	4677	exon3			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.225G>A	18.37:g.55283076C>T	ENSP00000256854:p.Met75Ile		53434074	NM_004539	B4DG16|Q53GU6	Missense_Mutation	SNP	ENST00000256854.5	37	CCDS32837.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685951	0.29962	.	.	ENSG00000134440	ENST00000256854;ENST00000411676;ENST00000540592	T	0.78246	-1.16	5.49	4.62	0.57501	.	0.137629	0.64402	D	0.000004	T	0.76335	0.3973	M	0.64997	1.995	0.80722	D	1	B;B;B	0.19706	0.022;0.038;0.001	B;B;B	0.25405	0.017;0.06;0.01	T	0.74250	-0.3726	10	0.59425	D	0.04	-6.1716	14.3069	0.66391	0.0:0.927:0.0:0.073	.	75;42;75	B4DGT6;F5H015;O43776	.;.;SYNC_HUMAN	I	75;42;75	ENSP00000256854:M75I	ENSP00000256854:M75I	M	-	3	0	NARS	53434074	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.538000	0.45710	1.313000	0.45069	0.643000	0.83706	ATG		0.383	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539	
ATP8B1	5205	broad.mit.edu	37	18	55317640	55317640	+	Nonsense_Mutation	SNP	G	G	A	rs369054652		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55317640G>A	ENST00000283684.4	-	26	3489	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.R1164*			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1164					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1164*(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACAGGAATCGAATGGCAACG	0.453																																					p.R1164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3490T	18	GRCh37	CM043833	ATP8B1	M		.	G	,stop/ARG	0,4406		0,0,2203	176.0	142.0	154.0		,3490	4.6	0.0	18		154	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained	ATP8B1,LOC100505549	NM_001242804.1,NM_005603.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,1164/1252	55317640	1,13005	2203	4300	6503	53468638	SO:0001587	stop_gained	5205	exon27			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3490C>T	18.37:g.55317640G>A	ENSP00000283684:p.Arg1164*		53468638	NM_005603	Q9BTP8	Nonsense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	39	7.809527	0.98501	0.0	1.16E-4	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.51	4.64	0.57946	.	0.053998	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5567	0.76200	0.0:0.0:0.8607:0.1393	.	.	.	.	X	1164	.	ENSP00000283684:R1164X	R	-	1	2	ATP8B1	53468638	1.000000	0.71417	0.045000	0.18777	0.535000	0.34838	5.089000	0.64492	1.342000	0.45619	-0.226000	0.12346	CGA		0.453	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
EPB41L3	23136	broad.mit.edu	37	18	5395673	5395673	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:5395673G>T	ENST00000341928.2	-	20	3347	c.3007C>A	c.(3007-3009)Ctg>Atg	p.L1003M	EPB41L3_ENST00000427684.2_Missense_Mutation_p.L300M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.L781M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L834M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.L308M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L1003M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.L781M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1003	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L1003M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCACTCATCAGCACGCCTGGC	0.527																																					p.L1003M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3007A	18						.						322.0	247.0	272.0					18																	5395673		2203	4300	6503	5385673	SO:0001583	missense	23136	exon20			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3007C>A	18.37:g.5395673G>T	ENSP00000343158:p.Leu1003Met		5385673	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601738	0.66445	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.95	4.98	0.66077	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.78456	2.415	0.52501	D	0.999957	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.996;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.996;0.999;1.0;0.972;0.999;0.93;1.0;0.997	D	0.88917	0.3363	10	0.54805	T	0.06	.	9.5103	0.39074	0.2184:0.0:0.7816:0.0	.	834;300;308;395;672;781;1003;238	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	1003;672;834;672;300;308;1003;781	ENSP00000343158:L1003M;ENSP00000441174:L834M;ENSP00000392195:L300M;ENSP00000442233:L308M;ENSP00000341138:L1003M;ENSP00000382981:L781M	ENSP00000343158:L1003M	L	-	1	2	EPB41L3	5385673	0.933000	0.31639	1.000000	0.80357	0.949000	0.60115	0.823000	0.27366	2.824000	0.97209	0.655000	0.94253	CTG		0.527	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
EPB41L3	23136	broad.mit.edu	37	18	5397241	5397241	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:5397241A>C	ENST00000341928.2	-	18	2997	c.2657T>G	c.(2656-2658)tTc>tGc	p.F886C	EPB41L3_ENST00000427684.2_Missense_Mutation_p.F183C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.F664C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.F717C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.F191C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F886C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.F664C|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	886	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.F886C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AATGCCTGTGAATGCGGGCTG	0.607																																					p.F886C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2657G	18						.						98.0	84.0	89.0					18																	5397241		2203	4300	6503	5387241	SO:0001583	missense	23136	exon18			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2657T>G	18.37:g.5397241A>C	ENSP00000343158:p.Phe886Cys		5387241	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	4.368	0.067908	0.08436	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.65	3.77	0.43336	.	0.762699	0.12317	N	0.479605	T	0.30135	0.0755	N	0.14661	0.345	0.09310	N	1	P;P;P;B;B;B;B;B	0.47604	0.474;0.898;0.733;0.141;0.042;0.341;0.141;0.007	B;B;P;B;B;B;B;B	0.46110	0.313;0.428;0.504;0.17;0.054;0.319;0.212;0.002	T	0.05131	-1.0904	10	0.37606	T	0.19	.	8.6574	0.34071	0.1769:0.0:0.8231:0.0	.	717;183;191;278;555;664;886;121	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	C	886;555;717;555;183;191;886;664	ENSP00000343158:F886C;ENSP00000441174:F717C;ENSP00000392195:F183C;ENSP00000442233:F191C;ENSP00000341138:F886C;ENSP00000382981:F664C	ENSP00000343158:F886C	F	-	2	0	EPB41L3	5387241	0.220000	0.23631	0.001000	0.08648	0.000000	0.00434	3.315000	0.51951	1.164000	0.42652	-0.462000	0.05337	TTC		0.607	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
ATP8B1	5205	broad.mit.edu	37	18	55336712	55336712	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:55336712G>T	ENST00000283684.4	-	17	1934	c.1935C>A	c.(1933-1935)atC>atA	p.I645I	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.I645I			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	645			Missing (in PFIC1). {ECO:0000269|PubMed:9500542}.		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I645I(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CATTTGCAAAGATCTGTTTTA	0.289																																					p.I645I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1935A	18						.						30.0	30.0	30.0					18																	55336712		2203	4300	6503	53487710	SO:0001819	synonymous_variant	5205	exon18			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1935C>A	18.37:g.55336712G>T			53487710	NM_005603	Q9BTP8	Silent	SNP	ENST00000283684.4	37	CCDS11965.1																																																																																				0.289	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
EPB41L3	23136	broad.mit.edu	37	18	5428395	5428395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:5428395G>A	ENST00000341928.2	-	9	1322	c.982C>T	c.(982-984)Cga>Tga	p.R328*	EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.R328*|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	328	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R328*(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGTTTATTCGCAGCCGGTCG	0.418																																					p.R328X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C982T	18						.						143.0	146.0	145.0					18																	5428395		2203	4300	6503	5418395	SO:0001587	stop_gained	23136	exon9			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.982C>T	18.37:g.5428395G>A	ENSP00000343158:p.Arg328*		5418395	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	40	8.478804	0.98829	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	5.31	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8071	0.63238	0.0:0.0:0.5071:0.4929	.	.	.	.	X	328;219;328;219;328;328	.	ENSP00000343158:R328X	R	-	1	2	EPB41L3	5418395	1.000000	0.71417	0.796000	0.32109	0.981000	0.71138	2.898000	0.48672	0.529000	0.28599	0.655000	0.94253	CGA		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
NEDD4L	23327	broad.mit.edu	37	18	56010290	56010290	+	Silent	SNP	C	C	T	rs199582650	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56010290C>T	ENST00000400345.3	+	16	1813	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	NEDD4L_ENST00000456986.1_Silent_p.N389N|NEDD4L_ENST00000256830.9_Silent_p.N406N|NEDD4L_ENST00000431212.2_Silent_p.N389N|NEDD4L_ENST00000256832.7_Silent_p.N369N|NEDD4L_ENST00000456173.2_Silent_p.N369N|NEDD4L_ENST00000357895.5_Silent_p.N502N|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Silent_p.N490N|NEDD4L_ENST00000356462.6_Silent_p.N446N|NEDD4L_ENST00000586263.1_Silent_p.N482N|NEDD4L_ENST00000435432.2_Silent_p.N369N	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	510	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.N490N(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TAGCGCCAAACGGCCGGCCCT	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		17291	0.002		0.0	False		,,,				2504	0.001				p.N490N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1470T	18						.	C	,,,,,,,,	0,3894		0,0,1947	80.0	85.0	84.0		1167,1167,1167,1530,1506,1446,1107,1107,1470	-0.5	0.9	18		84	1,8241		0,1,4120	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_015277.5	,,,,,,,,	0,1,6067	TT,TC,CC		0.0121,0.0,0.0082	,,,,,,,,	389/855,389/855,389/855,510/976,502/968,482/948,369/835,369/835,490/956	56010290	1,12135	1947	4121	6068	54161270	SO:0001819	synonymous_variant	23327	exon15			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1530C>T	18.37:g.56010290C>T			54161270	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	ENST00000400345.3	37	CCDS45872.1																																																																																				0.488	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
NEDD4L	23327	broad.mit.edu	37	18	56033273	56033273	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56033273A>C	ENST00000400345.3	+	21	2159	c.1876A>C	c.(1876-1878)Aac>Cac	p.N626H	NEDD4L_ENST00000456986.1_Missense_Mutation_p.N505H|NEDD4L_ENST00000256830.9_Missense_Mutation_p.N522H|NEDD4L_ENST00000431212.2_Missense_Mutation_p.N505H|NEDD4L_ENST00000256832.7_Missense_Mutation_p.N486H|NEDD4L_ENST00000456173.2_Missense_Mutation_p.N485H|NEDD4L_ENST00000357895.5_Missense_Mutation_p.N618H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.N606H|NEDD4L_ENST00000356462.6_Missense_Mutation_p.N562H|NEDD4L_ENST00000586263.1_Missense_Mutation_p.N598H|NEDD4L_ENST00000435432.2_Missense_Mutation_p.N485H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	626					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.N606H(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACAGAAATAACATATTTGA	0.348																																					p.N606H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1816C	18						.						91.0	84.0	86.0					18																	56033273		1829	4083	5912	54184253	SO:0001583	missense	23327	exon20			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1876A>C	18.37:g.56033273A>C	ENSP00000383199:p.Asn626His		54184253	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.892028	0.33442	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.76448	0.92;0.92;0.92;0.92;-1.02;-1.02;0.92;-1.02;-1.02;-1.02	5.54	5.54	0.83059	HECT (1);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	N	0.05383	-0.06	0.80722	D	1	P;B;D;D;D;P	0.76494	0.47;0.329;0.998;0.999;0.992;0.47	B;B;P;D;P;B	0.81914	0.167;0.089;0.899;0.995;0.77;0.167	T	0.80589	-0.1315	10	0.42905	T	0.14	.	15.9755	0.80060	1.0:0.0:0.0:0.0	.	598;618;485;562;626;606	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	H	626;606;562;522;486;505;618;485;485;505	ENSP00000383199:N626H;ENSP00000372301:N606H;ENSP00000348847:N562H;ENSP00000256830:N522H;ENSP00000256832:N486H;ENSP00000411947:N505H;ENSP00000350569:N618H;ENSP00000393395:N485H;ENSP00000405440:N485H;ENSP00000389406:N505H	ENSP00000256830:N522H	N	+	1	0	NEDD4L	54184253	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.256000	0.72473	2.219000	0.72066	0.528000	0.53228	AAC		0.348	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ALPK2	115701	broad.mit.edu	37	18	56149069	56149069	+	Missense_Mutation	SNP	C	C	T	rs543965909		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56149069C>T	ENST00000361673.3	-	13	6712	c.6499G>A	c.(6499-6501)Gaa>Aaa	p.E2167K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2167						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E2167K(1)|p.E1528K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTTTCTTTTCGCCTGGGGTC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19788	0.0		0.0	False		,,,				2504	0.001				p.E2167K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6499A	18						.						153.0	142.0	146.0					18																	56149069		2203	4300	6503	54300049	SO:0001583	missense	115701	exon13			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6499G>A	18.37:g.56149069C>T	ENSP00000354991:p.Glu2167Lys		54300049	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695570	0.48202	.	.	ENSG00000198796	ENST00000361673	T	0.49432	0.78	5.82	4.04	0.47022	.	0.422063	0.22723	N	0.056422	T	0.43077	0.1231	M	0.64997	1.995	0.09310	N	1	P	0.47253	0.892	B	0.39660	0.306	T	0.43130	-0.9410	10	0.87932	D	0	-3.4178	8.9382	0.35713	0.0:0.7382:0.1249:0.1369	.	2167	Q86TB3	ALPK2_HUMAN	K	2167	ENSP00000354991:E2167K	ENSP00000354991:E2167K	E	-	1	0	ALPK2	54300049	0.003000	0.15002	0.001000	0.08648	0.047000	0.14425	1.193000	0.32162	0.818000	0.34468	0.655000	0.94253	GAA		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56171304	56171304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56171304C>A	ENST00000361673.3	-	11	6319	c.6106G>T	c.(6106-6108)Gaa>Taa	p.E2036*		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2036	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E1397*(1)|p.E2036*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCACAAATTCTCCAATCAGC	0.453																																					p.E2036X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6106T	18						.						180.0	173.0	175.0					18																	56171304		2203	4300	6503	54322284	SO:0001587	stop_gained	115701	exon11			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6106G>T	18.37:g.56171304C>A	ENSP00000354991:p.Glu2036*		54322284	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	48	14.921304	0.99815	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.63	5.63	0.86233	.	0.171607	0.37857	N	0.001908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-22.8411	19.3517	0.94389	0.0:1.0:0.0:0.0	.	.	.	.	X	2036	.	ENSP00000354991:E2036X	E	-	1	0	ALPK2	54322284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.659000	0.68010	2.680000	0.91292	0.644000	0.83932	GAA		0.453	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56184373	56184373	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56184373C>A	ENST00000361673.3	-	9	5920	c.5707G>T	c.(5707-5709)Gac>Tac	p.D1903Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1903	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D1903Y(1)|p.D1264Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGAGGAAGTCTTCTTTGAAG	0.527																																					p.D1903Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5707T	18						.						67.0	69.0	68.0					18																	56184373		2203	4300	6503	54335353	SO:0001583	missense	115701	exon9			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5707G>T	18.37:g.56184373C>A	ENSP00000354991:p.Asp1903Tyr		54335353	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712053	0.89112	.	.	ENSG00000198796	ENST00000361673	T	0.07567	3.18	5.91	5.91	0.95273	MHCK/EF2 kinase (1);Protein kinase-like domain (1);	0.065306	0.64402	D	0.000017	T	0.27027	0.0662	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00054	-1.2181	10	0.72032	D	0.01	-28.8229	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1903	Q86TB3	ALPK2_HUMAN	Y	1903	ENSP00000354991:D1903Y	ENSP00000354991:D1903Y	D	-	1	0	ALPK2	54335353	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	5.679000	0.68160	2.793000	0.96121	0.655000	0.94253	GAC		0.527	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56204919	56204919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56204919C>A	ENST00000361673.3	-	5	2713	c.2500G>T	c.(2500-2502)Gaa>Taa	p.E834*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	834						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E200*(1)|p.E834*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGCAAATTTCTTGAGGCGAA	0.398																																					p.E834X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2500T	18						.						76.0	75.0	76.0					18																	56204919		2203	4300	6503	54355899	SO:0001587	stop_gained	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2500G>T	18.37:g.56204919C>A	ENSP00000354991:p.Glu834*		54355899	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	39	7.862906	0.98531	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.57	5.57	0.84162	.	0.889460	0.09841	N	0.748805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.0859	15.0658	0.71992	0.0:1.0:0.0:0.0	.	.	.	.	X	834	.	ENSP00000354991:E834X	E	-	1	0	ALPK2	54355899	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	4.038000	0.57318	2.630000	0.89119	0.591000	0.81541	GAA		0.398	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56204957	56204957	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56204957G>T	ENST00000361673.3	-	5	2675	c.2462C>A	c.(2461-2463)tCt>tAt	p.S821Y	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	821						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S187Y(1)|p.S821Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCCAACAAGAGAATCTATGGT	0.423																																					p.S821Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2462A	18						.						104.0	99.0	101.0					18																	56204957		2203	4300	6503	54355937	SO:0001583	missense	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2462C>A	18.37:g.56204957G>T	ENSP00000354991:p.Ser821Tyr		54355937	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	4.873	0.162338	0.09287	.	.	ENSG00000198796	ENST00000361673	T	0.46451	0.87	5.57	2.35	0.29111	.	1.534230	0.03313	N	0.190769	T	0.48822	0.1521	L	0.48642	1.525	0.09310	N	1	P;P	0.50066	0.931;0.766	P;B	0.50590	0.645;0.325	T	0.31724	-0.9933	10	0.59425	D	0.04	-0.3963	7.6593	0.28394	0.3148:0.0:0.6852:0.0	.	821;821	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Y	821	ENSP00000354991:S821Y	ENSP00000354991:S821Y	S	-	2	0	ALPK2	54355937	0.003000	0.15002	0.008000	0.14137	0.011000	0.07611	1.314000	0.33597	0.711000	0.32018	0.591000	0.81541	TCT		0.423	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56247439	56247439	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56247439G>T	ENST00000361673.3	-	4	782	c.569C>A	c.(568-570)cCt>cAt	p.P190H	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	190						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P190H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AACACCCAAAGGATTTTCAGA	0.438																																					p.P190H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569A	18						.						169.0	175.0	173.0					18																	56247439		2103	4233	6336	54398419	SO:0001583	missense	115701	exon4			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.569C>A	18.37:g.56247439G>T	ENSP00000354991:p.Pro190His		54398419	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890181	0.33348	.	.	ENSG00000198796	ENST00000361673	T	0.48836	0.8	5.9	1.58	0.23477	.	.	.	.	.	T	0.39517	0.1081	L	0.29908	0.895	0.09310	N	1	D	0.60575	0.988	P	0.50231	0.635	T	0.16276	-1.0408	9	0.45353	T	0.12	-0.7197	5.0122	0.14319	0.3531:0.0:0.4796:0.1673	.	190	Q86TB3	ALPK2_HUMAN	H	190	ENSP00000354991:P190H	ENSP00000354991:P190H	P	-	2	0	ALPK2	54398419	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.028000	0.13644	0.352000	0.24053	0.563000	0.77884	CCT		0.438	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
EPB41L3	23136	broad.mit.edu	37	18	5478333	5478333	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:5478333G>T	ENST00000341928.2	-	3	628	c.288C>A	c.(286-288)ctC>ctA	p.L96L	EPB41L3_ENST00000540638.2_Silent_p.L96L|EPB41L3_ENST00000544123.1_Silent_p.L96L|RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000342933.3_Silent_p.L96L|EPB41L3_ENST00000400111.3_Silent_p.L96L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	96					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.L96L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAGACCGAGAGAGTTTACTGC	0.413																																					p.L96L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288A	18						.						182.0	165.0	171.0					18																	5478333		2203	4300	6503	5468333	SO:0001819	synonymous_variant	23136	exon3			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.288C>A	18.37:g.5478333G>T			5468333	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
MALT1	10892	broad.mit.edu	37	18	56363706	56363706	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:56363706A>C	ENST00000348428.3	+	3	743	c.485A>C	c.(484-486)aAa>aCa	p.K162T	MALT1_ENST00000345724.3_Missense_Mutation_p.K162T|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	162	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.K162T(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGTGGTTCAAAATGAATAAA	0.338			T	BIRC3	MALT																																p.K162T			Dom	yes		18	18q21	10892	mucosa associated lymphoid tissue lymphoma translocation gene 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A485C	18						.						42.0	46.0	45.0					18																	56363706		2203	4300	6503	54514686	SO:0001583	missense	10892	exon3				CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.485A>C	18.37:g.56363706A>C	ENSP00000319279:p.Lys162Thr		54514686	NM_173844	Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787814	0.70337	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.18810	2.19;2.19	5.34	5.34	0.76211	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.93420	3.415	0.46113	D	0.998876	D;D	0.89917	1.0;1.0	D;D	0.79108	0.985;0.992	T	0.67883	-0.5555	10	0.56958	D	0.05	.	14.6056	0.68475	1.0:0.0:0.0:0.0	.	162;162	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	T	162	ENSP00000319279:K162T;ENSP00000304161:K162T	ENSP00000304161:K162T	K	+	2	0	MALT1	54514686	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.034000	0.76511	2.147000	0.66899	0.455000	0.32223	AAA		0.338	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2		
LMAN1	3998	broad.mit.edu	37	18	57006031	57006031	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:57006031G>T	ENST00000251047.5	-	9	1827	c.1110C>A	c.(1108-1110)atC>atA	p.I370I		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	370					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.I370I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTCTTTTAGAGATTTCCTCTG	0.448																																					p.I370I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1110A	18						.						189.0	184.0	185.0					18																	57006031		2203	4300	6503	55157011	SO:0001819	synonymous_variant	3998	exon9			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1110C>A	18.37:g.57006031G>T			55157011	NM_005570	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Silent	SNP	ENST00000251047.5	37	CCDS11974.1																																																																																				0.448	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
LMAN1	3998	broad.mit.edu	37	18	57022574	57022574	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:57022574A>C	ENST00000251047.5	-	3	1165	c.448T>G	c.(448-450)Ttt>Gtt	p.F150V		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	150	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.F150V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GAATCAAAAAATATTCCAACA	0.363																																					p.F150V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T448G	18						.						78.0	71.0	73.0					18																	57022574		2203	4300	6503	55173554	SO:0001583	missense	3998	exon3			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.448T>G	18.37:g.57022574A>C	ENSP00000251047:p.Phe150Val		55173554	NM_005570	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.521592	0.85600	.	.	ENSG00000074695	ENST00000251047	T	0.64438	-0.1	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	M	0.86573	2.825	0.80722	D	1	P;P	0.46578	0.88;0.647	P;P	0.53518	0.728;0.559	T	0.74976	-0.3480	10	0.15499	T	0.54	-15.6881	15.5314	0.75964	1.0:0.0:0.0:0.0	.	150;150	B4DVV0;P49257	.;LMAN1_HUMAN	V	150	ENSP00000251047:F150V	ENSP00000251047:F150V	F	-	1	0	LMAN1	55173554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.691000	0.91279	2.145000	0.66743	0.533000	0.62120	TTT		0.363	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
CDH20	28316	broad.mit.edu	37	18	59166573	59166573	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:59166573C>T	ENST00000262717.4	+	3	799	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CDH20_ENST00000538374.1_Missense_Mutation_p.A134V|CDH20_ENST00000536675.2_Missense_Mutation_p.A134V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	134	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A134V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACTCTAAGGGCTCAAGCCCTA	0.537																																					p.A134V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C401T	18						.						52.0	47.0	49.0					18																	59166573		2203	4300	6503	57317553	SO:0001583	missense	28316	exon2			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.401C>T	18.37:g.59166573C>T	ENSP00000262717:p.Ala134Val		57317553	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996214	0.93167	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.48836	0.8;0.8;0.8	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.38838	1.175	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.61579	-0.7034	10	0.87932	D	0	.	20.0851	0.97797	0.0:1.0:0.0:0.0	.	134	Q9HBT6	CAD20_HUMAN	V	134	ENSP00000444767:A134V;ENSP00000442226:A134V;ENSP00000262717:A134V	ENSP00000262717:A134V	A	+	2	0	CDH20	57317553	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.487000	0.81328	2.758000	0.94735	0.650000	0.86243	GCT		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
CDH20	28316	broad.mit.edu	37	18	59217306	59217306	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:59217306C>T	ENST00000262717.4	+	11	2142	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	CDH20_ENST00000538374.1_Missense_Mutation_p.P582S|CDH20_ENST00000536675.2_Missense_Mutation_p.P582S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	582	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.P582S(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TAGCGGGCAGCCCGTGCTGAG	0.572																																					p.P582S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1744T	18						.						56.0	46.0	49.0					18																	59217306		2203	4300	6503	57368286	SO:0001583	missense	28316	exon10			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1744C>T	18.37:g.59217306C>T	ENSP00000262717:p.Pro582Ser		57368286	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204030	0.95033	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.56776	0.44;0.44;0.44	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.054814	0.64402	D	0.000001	T	0.81380	0.4810	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85069	0.0939	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	582	Q9HBT6	CAD20_HUMAN	S	582	ENSP00000444767:P582S;ENSP00000442226:P582S;ENSP00000262717:P582S	ENSP00000262717:P582S	P	+	1	0	CDH20	57368286	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.917000	0.63369	2.826000	0.97356	0.655000	0.94253	CCC		0.572	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
PIGN	23556	broad.mit.edu	37	18	59824364	59824364	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:59824364T>G	ENST00000357637.5	-	6	855	c.440A>C	c.(439-441)aAa>aCa	p.K147T	PIGN_ENST00000400334.3_Missense_Mutation_p.K147T	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	147					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.K147T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACTCTTACCTTTGGCAAACAT	0.348																																					p.K147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440C	18						.						66.0	63.0	64.0					18																	59824364		1834	4099	5933	57975344	SO:0001583	missense	23556	exon6			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.440A>C	18.37:g.59824364T>G	ENSP00000350263:p.Lys147Thr		57975344	NM_176787	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782546	0.90282	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.28666	1.6;1.6	5.17	5.17	0.71159	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.049934	0.85682	D	0.000000	T	0.49830	0.1580	M	0.63208	1.945	0.80722	D	1	P;D	0.56035	0.945;0.974	P;P	0.62089	0.864;0.898	T	0.46091	-0.9216	9	.	.	.	-5.469	15.3002	0.73945	0.0:0.0:0.0:1.0	.	147;147	B2RCI8;O95427	.;PIGN_HUMAN	T	147	ENSP00000350263:K147T;ENSP00000383188:K147T	.	K	-	2	0	PIGN	57975344	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.881000	0.87252	2.065000	0.61736	0.459000	0.35465	AAA		0.348	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787	
TNFRSF11A	8792	broad.mit.edu	37	18	60017060	60017060	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:60017060C>A	ENST00000586569.1	+	3	211	c.173C>A	c.(172-174)tCt>tAt	p.S58Y	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.S58Y	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	58					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.S58Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TACATGTCTTCTAAATGCACT	0.378																																					p.S58Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173A	18						.						160.0	154.0	156.0					18																	60017060		2203	4300	6503	58168040	SO:0001583	missense	8792	exon3			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.173C>A	18.37:g.60017060C>A	ENSP00000465500:p.Ser58Tyr		58168040	NM_003839	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705333	0.68615	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	D	0.92048	-2.96	5.81	4.91	0.64330	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.326738	0.32884	N	0.005526	D	0.94656	0.8277	M	0.71581	2.175	0.34849	D	0.741438	D;D	0.71674	0.998;0.998	D;D	0.64144	0.922;0.922	D	0.96176	0.9127	9	.	.	.	-17.9975	13.6017	0.62024	0.1544:0.8456:0.0:0.0	.	80;58	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	Y	80;58	ENSP00000269485:S58Y	.	S	+	2	0	TNFRSF11A	58168040	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	3.116000	0.50399	2.748000	0.94277	0.462000	0.41574	TCT		0.378	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
ZCCHC2	54877	broad.mit.edu	37	18	60242545	60242545	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:60242545G>T	ENST00000269499.5	+	13	3649	c.3231G>T	c.(3229-3231)caG>caT	p.Q1077H	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.Q756H	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1077						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.Q1077H(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCTGCCTCAGACTCCATATG	0.473																																					p.Q1077H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3231T	18						.						63.0	63.0	63.0					18																	60242545		1939	4161	6100	58393525	SO:0001583	missense	54877	exon13			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3231G>T	18.37:g.60242545G>T	ENSP00000269499:p.Gln1077His		58393525	NM_017742	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860999	0.32884	.	.	ENSG00000141664	ENST00000269499	T	0.22134	1.97	5.56	5.56	0.83823	.	0.246151	0.35677	N	0.003047	T	0.20659	0.0497	N	0.20530	0.585	0.38468	D	0.947394	D	0.57899	0.981	P	0.51999	0.687	T	0.01386	-1.1368	10	0.06099	T	0.92	-6.3853	18.0709	0.89405	0.0:0.0:1.0:0.0	.	1077	Q9C0B9	ZCHC2_HUMAN	H	1077	ENSP00000269499:Q1077H	ENSP00000269499:Q1077H	Q	+	3	2	ZCCHC2	58393525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.059000	0.49947	2.774000	0.95407	0.650000	0.86243	CAG		0.473	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742	
PHLPP1	23239	broad.mit.edu	37	18	60642763	60642763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:60642763C>T	ENST00000262719.5	+	16	4123	c.3889C>T	c.(3889-3891)Cga>Tga	p.R1297*	PHLPP1_ENST00000400316.4_Nonsense_Mutation_p.R785*			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1297	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R784*(1)		endometrium(2)|kidney(2)|lung(13)	17						AGTTCTCTGTCGAAATGGAAA	0.493																																					p.R1297X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3889T	18						.						158.0	152.0	154.0					18																	60642763		2000	4179	6179	58793743	SO:0001587	stop_gained	23239	exon16			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3889C>T	18.37:g.60642763C>T	ENSP00000262719:p.Arg1297*		58793743	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Nonsense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	53	20.198635	0.99928	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	.	.	.	4.91	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.675	12.4072	0.55447	0.3056:0.6944:0.0:0.0	.	.	.	.	X	785;1297	.	ENSP00000262719:R1297X	R	+	1	2	PHLPP1	58793743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.744000	0.55112	1.245000	0.43885	0.555000	0.69702	CGA		0.493	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
KDSR	2531	broad.mit.edu	37	18	61027001	61027001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61027001C>A	ENST00000406396.3	-	3	614	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	KDSR_ENST00000326575.5_Nonsense_Mutation_p.E75*	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	75					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)	p.E75*(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ATTTCAATTTCTTTCTTTGCC	0.358																																					p.E75X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G223T	18						.						131.0	120.0	123.0					18																	61027001		2203	4299	6502	59177981	SO:0001587	stop_gained	2531	exon3				CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.223G>T	18.37:g.61027001C>A	ENSP00000385083:p.Glu75*		59177981	NM_002035	B2R5Y1|B4DMX0	Nonsense_Mutation	SNP	ENST00000406396.3	37	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	41	9.063198	0.99053	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	.	.	.	5.41	5.41	0.78517	.	0.048215	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.3697	0.87373	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000312939:E75X	E	-	1	0	KDSR	59177981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.157000	0.77461	2.534000	0.85438	0.591000	0.81541	GAA		0.358	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2		
VPS4B	9525	broad.mit.edu	37	18	61060766	61060766	+	Missense_Mutation	SNP	C	C	T	rs147130607	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61060766C>T	ENST00000238497.5	-	10	1312	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	370					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.R370Q(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGGATCAGCTCGGGAAGGTCC	0.398													C|||	4	0.000798722	0.0	0.0	5008	,	,		14318	0.004		0.0	False		,,,				2504	0.0				p.R370Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1109A	18						.						94.0	91.0	92.0					18																	61060766		2203	4300	6503	59211746	SO:0001583	missense	9525	exon10			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1109G>A	18.37:g.61060766C>T	ENSP00000238497:p.Arg370Gln		59211746	NM_004869	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	CCDS11983.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	10.75	1.438966	0.25900	.	.	ENSG00000119541	ENST00000238497	D	0.93488	-3.23	5.92	4.1	0.47936	.	0.483440	0.22378	N	0.060853	D	0.86447	0.5935	L	0.58101	1.795	0.21675	N	0.999595	P	0.37914	0.611	B	0.29267	0.1	T	0.74497	-0.3646	10	0.12103	T	0.63	-9.0051	3.6896	0.08340	0.173:0.4861:0.2555:0.0854	.	370	O75351	VPS4B_HUMAN	Q	370	ENSP00000238497:R370Q	ENSP00000238497:R370Q	R	-	2	0	VPS4B	59211746	0.001000	0.12720	0.585000	0.28666	0.972000	0.66771	0.718000	0.25866	1.512000	0.48834	0.543000	0.68304	CGA		0.398	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	
SERPINB12	89777	broad.mit.edu	37	18	61228356	61228356	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61228356G>A	ENST00000269491.1	+	4	423	c.423G>A	c.(421-423)acG>acA	p.T141T	SERPINB12_ENST00000382768.1_Silent_p.T161T	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	141					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T141T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACCACACGACGATTGAAAGTG	0.383																																					p.T141T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	18						.						116.0	112.0	113.0					18																	61228356		2203	4300	6503	59379336	SO:0001819	synonymous_variant	89777	exon4			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.423G>A	18.37:g.61228356G>A			59379336	NM_080474	Q3SYB4	Silent	SNP	ENST00000269491.1	37	CCDS11984.1																																																																																				0.383	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
SERPINB13	5275	broad.mit.edu	37	18	61260167	61260167	+	Missense_Mutation	SNP	G	G	A	rs187247060		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61260167G>A	ENST00000344731.5	+	5	536	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	SERPINB13_ENST00000269489.5_Missense_Mutation_p.R145Q	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	145					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R145L(1)|p.R145Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATGAAAGTCGAAAGAAGATT	0.328													G|||	1	0.000199681	0.0	0.0	5008	,	,		20281	0.001		0.0	False		,,,				2504	0.0				p.R145Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G434A	18						.						105.0	115.0	111.0					18																	61260167		2203	4300	6503	59411147	SO:0001583	missense	5275	exon5			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.434G>A	18.37:g.61260167G>A	ENSP00000341584:p.Arg145Gln		59411147	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.1	4.242915	0.79912	.	.	ENSG00000197641	ENST00000269489;ENST00000344731	D;D	0.85629	-2.01;-2.01	5.57	4.69	0.59074	Serpin domain (3);	0.153174	0.30168	N	0.010242	D	0.90783	0.7106	M	0.65498	2.005	0.50813	D	0.99989	D;D	0.89917	0.995;1.0	P;D	0.87578	0.844;0.998	D	0.90428	0.4422	9	.	.	.	.	14.038	0.64658	0.0731:0.0:0.9269:0.0	.	154;145	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	Q	145	ENSP00000269489:R145Q;ENSP00000341584:R145Q	.	R	+	2	0	SERPINB13	59411147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.891000	0.75639	1.485000	0.48380	0.555000	0.69702	CGA		0.328	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
SERPINB4	6318	broad.mit.edu	37	18	61305069	61305069	+	Missense_Mutation	SNP	C	C	T	rs386804122		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61305069C>T	ENST00000341074.5	-	8	1172	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E301K	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	353				E -> K (in Ref. 4; BAF84901). {ECO:0000305}.	negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E353K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GATGATAATTCGACTACTACT	0.463																																					p.E353K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	18						.						126.0	120.0	122.0					18																	61305069		2203	4300	6503	59456049	SO:0001583	missense	6318	exon8			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1057G>A	18.37:g.61305069C>T	ENSP00000343445:p.Glu353Lys		59456049	NM_002974	A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.311849	0.01342	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.81908	-1.55;-1.55	2.27	-4.54	0.03452	Serpin domain (3);	7.091560	0.00166	N	0.000007	T	0.62196	0.2408	N	0.05351	-0.065	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.11329	0.006;0.006;0.006	T	0.55341	-0.8156	10	0.13108	T	0.6	.	4.2253	0.10577	0.0:0.4447:0.2134:0.342	.	353;353;332	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	K	353;301	ENSP00000343445:E353K;ENSP00000348795:E301K	ENSP00000343445:E353K	E	-	1	0	SERPINB4	59456049	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.859000	0.00094	-0.946000	0.03677	-0.320000	0.08662	GAA		0.463	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
SERPINB11	89778	broad.mit.edu	37	18	61387255	61387255	+	RNA	SNP	G	G	A	rs369601900		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61387255G>A	ENST00000382749.5	+	0	729				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A162T(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGGAAAAGTCGCAAATCTCTT	0.323																																					p.A162T	Ovarian(27;496 784 5942 8975 23930)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	18						.	G	THR/ALA	1,3591		0,1,1795	68.0	68.0	68.0		484	2.8	0.0	18		68	0,8124		0,0,4062	no	missense	SERPINB11	NM_080475.2	58	0,1,5857	AA,AG,GG		0.0,0.0278,0.0085	benign	162/393	61387255	1,11715	1796	4062	5858	59538235			89778	exon6					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387255G>A			59538235	NM_080475	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	g	10.79	1.449748	0.26074	2.78E-4	0.0	ENSG00000206072	ENST00000544088	D	0.84223	-1.82	5.4	2.84	0.33178	Serpin domain (3);	.	.	.	.	T	0.52709	0.1751	N	0.00179	-1.91	0.46416	D	0.999038	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49570	-0.8926	9	0.33940	T	0.23	.	7.4124	0.27025	0.7805:0.1425:0.0771:0.0	.	162;162	F5GYW9;Q96P15	.;SPB11_HUMAN	T	162	ENSP00000441497:A162T	ENSP00000421854:A162T	A	+	1	0	SERPINB11	59538235	0.001000	0.12720	0.045000	0.18777	0.436000	0.31835	0.587000	0.23909	0.981000	0.38548	-0.404000	0.06349	GCA		0.323	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
SERPINB11	89778	broad.mit.edu	37	18	61387357	61387357	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61387357G>T	ENST00000382749.5	+	0	831				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E196*(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCAAGTAAGAGAGACAGTTAA	0.333																																					p.E196X	Ovarian(27;496 784 5942 8975 23930)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G586T	18						.						58.0	59.0	59.0					18																	61387357		1816	4084	5900	59538337			89778	exon6					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387357G>T			59538337	NM_080475	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Nonsense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	G	18.16	3.561613	0.65538	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	.	.	.	5.62	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	6.6077	0.22734	0.0747:0.3439:0.4762:0.1052	.	.	.	.	X	196;21	.	ENSP00000421854:E196X	E	+	1	0	SERPINB11	59538337	0.000000	0.05858	0.961000	0.40146	0.410000	0.31052	-0.837000	0.04377	0.813000	0.34350	0.655000	0.94253	GAG		0.333	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
SERPINB11	89778	broad.mit.edu	37	18	61390517	61390517	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61390517G>A	ENST00000382749.5	+	0	1308				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A355T(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGACAGCATCGCTGTAAAAAG	0.498																																					p.A355T	Ovarian(27;496 784 5942 8975 23930)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1063A	18						.						90.0	87.0	88.0					18																	61390517		2199	4298	6497	59541497			89778	exon8					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390517G>A			59541497	NM_080475	A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451834	0.04572	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.82255	-1.59;2.82;-1.59	5.27	0.162	0.14981	Serpin domain (3);	1.059330	0.07414	N	0.892904	T	0.57621	0.2066	N	0.04043	-0.29	0.09310	N	1	B;B;B;B	0.25563	0.008;0.032;0.129;0.009	B;B;B;B	0.15484	0.004;0.005;0.012;0.013	T	0.48293	-0.9048	10	0.02654	T	1	.	6.3904	0.21583	0.1356:0.0:0.4857:0.3786	.	180;153;268;355	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	T	355;153;180	ENSP00000441497:A355T;ENSP00000440795:A153T;ENSP00000441708:A180T	ENSP00000421854:A355T	A	+	1	0	SERPINB11	59541497	0.015000	0.18098	0.000000	0.03702	0.501000	0.33797	1.220000	0.32491	-0.201000	0.10284	-0.169000	0.13324	GCT		0.498	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475	
SERPINB2	5055	broad.mit.edu	37	18	61569701	61569701	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61569701G>T	ENST00000299502.4	+	7	822	c.742G>T	c.(742-744)Gac>Tac	p.D248Y	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.D248Y	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	248					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D248Y(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	ATACATAGAAGACCTAAAGGC	0.408																																					p.D248Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742T	18						.						134.0	119.0	124.0					18																	61569701		2203	4300	6503	59720681	SO:0001583	missense	5055	exon7			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.742G>T	18.37:g.61569701G>T	ENSP00000299502:p.Asp248Tyr		59720681	NM_002575	Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	CCDS11989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570944|1.570944	0.28003|0.28003	.|.	.|.	ENSG00000197632|ENSG00000242550	ENST00000299502;ENST00000457692|ENST00000397996;ENST00000418725	T;T|.	0.13089|.	2.62;2.62|.	5.4|5.4	2.62|2.62	0.31277|0.31277	Serpin domain (3);|.	0.319686|.	0.37136|.	N|.	0.002236|.	T|T	0.76176|0.76176	0.3951|0.3951	M|M	0.88842|0.88842	2.985|2.985	0.80722|0.80722	D|D	1|1	B;D|.	0.54772|.	0.331;0.968|.	B;P|.	0.53450|.	0.394;0.726|.	T|T	0.75059|0.75059	-0.3451|-0.3451	10|5	0.72032|.	D|.	0.01|.	.|.	10.0236|10.0236	0.42057|0.42057	0.1916:0.1037:0.7048:0.0|0.1916:0.1037:0.7048:0.0	.|.	248;248|.	B2R7Y0;P05120|.	.;PAI2_HUMAN|.	Y|I	248|124	ENSP00000299502:D248Y;ENSP00000401645:D248Y|.	ENSP00000299502:D248Y|.	D|R	+|+	1|2	0|0	SERPINB2|SERPINB10	59720681|59720681	0.018000|0.018000	0.18449|0.18449	0.104000|0.104000	0.21259|0.21259	0.005000|0.005000	0.04900|0.04900	0.852000|0.852000	0.27764|0.27764	0.080000|0.080000	0.16959|0.16959	-1.847000|-1.847000	0.00572|0.00572	GAC|AGA		0.408	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575	
SERPINB10	5273	broad.mit.edu	37	18	61585303	61585303	+	Silent	SNP	G	G	A	rs199625177		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61585303G>A	ENST00000238508.3	+	4	398	c.339G>A	c.(337-339)gcG>gcA	p.A113A		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	113					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A113A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CAGCCAATGCGATATATGGAG	0.363													g|||	1	0.000199681	0.0	0.0	5008	,	,		21391	0.001		0.0	False		,,,				2504	0.0				p.A113A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	18						.	A		0,4406		0,0,2203	102.0	93.0	96.0		339	3.1	0.0	18		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB10	NM_005024.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		113/398	61585303	1,13005	2203	4300	6503	59736283	SO:0001819	synonymous_variant	5273	exon3			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.339G>A	18.37:g.61585303G>A			59736283	NM_005024	Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	CCDS11990.1																																																																																				0.363	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
SERPINB10	5273	broad.mit.edu	37	18	61600292	61600292	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61600292A>G	ENST00000238508.3	+	7	703	c.644A>G	c.(643-645)aAa>aGa	p.K215R		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	215					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K215R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ACTACAAGCAAACCAGTGCAA	0.363																																					p.K215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A644G	18						.						74.0	81.0	78.0					18																	61600292		2203	4300	6503	59751272	SO:0001583	missense	5273	exon6			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.644A>G	18.37:g.61600292A>G	ENSP00000238508:p.Lys215Arg		59751272	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500052	0.64298	.	.	ENSG00000242550	ENST00000238508	D	0.83075	-1.68	5.95	5.95	0.96441	Serpin domain (3);	0.096594	0.64402	D	0.000001	D	0.86619	0.5976	M	0.75085	2.285	0.47698	D	0.999496	D	0.52996	0.957	P	0.53490	0.727	D	0.85494	0.1187	10	0.32370	T	0.25	.	11.4705	0.50266	0.9286:0.0:0.0714:0.0	.	215	P48595	SPB10_HUMAN	R	215	ENSP00000238508:K215R	ENSP00000238508:K215R	K	+	2	0	SERPINB10	59751272	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.997000	0.40786	2.282000	0.76494	0.533000	0.62120	AAA		0.363	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
SERPINB8	5271	broad.mit.edu	37	18	61650954	61650954	+	Splice_Site	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:61650954A>T	ENST00000397985.2	+	5	822	c.566A>T	c.(565-567)gAg>gTg	p.E189V	SERPINB8_ENST00000397988.3_Splice_Site_p.E189V|SERPINB8_ENST00000353706.2_Splice_Site_p.E189V|SERPINB8_ENST00000542677.1_Splice_Site_p.E7V	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	189					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E189V(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AAAACCAACGAGGTAGGGAAA	0.338																																					p.E189V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A566T	18						.						98.0	96.0	96.0					18																	61650954		2203	4300	6503	59801934	SO:0001630	splice_region_variant	5271	exon5			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.567+1A>T	18.37:g.61650954A>T			59801934	NM_002640	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.10|17.10	3.302601|3.302601	0.60195|0.60195	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677;ENST00000397988|ENST00000295211	D;D;D;D|.	0.84800|.	-1.77;-1.77;-1.9;-1.77|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serpin domain (3);|.	0.194339|.	0.53938|.	D|.	0.000053|.	T|T	0.57227|0.57227	0.2039|0.2039	L|L	0.35593|0.35593	1.075|1.075	0.80722|0.80722	D|D	1|1	P;P|.	0.34699|.	0.464;0.464|.	P;P|.	0.45138|.	0.471;0.471|.	T|T	0.53563|0.53563	-0.8421|-0.8421	10|5	0.87932|.	D|.	0|.	.|.	15.2098|15.2098	0.73214|0.73214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	189;189|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	V|W	189;189;7;189|131	ENSP00000381072:E189V;ENSP00000331368:E189V;ENSP00000438328:E7V;ENSP00000381075:E189V|.	ENSP00000331368:E189V|.	E|R	+|+	2|1	0|2	SERPINB8|SERPINB8	59801934|59801934	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.072000|0.072000	0.16883|0.16883	7.229000|7.229000	0.78088|0.78088	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAG|AGG		0.338	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848	Missense_Mutation
CLUL1	27098	broad.mit.edu	37	18	627181	627181	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:627181C>A	ENST00000400606.2	+	5	653	c.508C>A	c.(508-510)Ctc>Atc	p.L170I	CLUL1_ENST00000338387.7_Missense_Mutation_p.L170I|CLUL1_ENST00000540035.1_Missense_Mutation_p.L222I|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.L170I|CLUL1_ENST00000581619.1_Missense_Mutation_p.L195I	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	170					cell death (GO:0008219)	extracellular region (GO:0005576)		p.L170I(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAGTGAAAAGCTCATTGAGGA	0.388																																					p.L170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508A	18						.						163.0	147.0	152.0					18																	627181		1890	4128	6018	617181	SO:0001583	missense	27098	exon5			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.508C>A	18.37:g.627181C>A	ENSP00000383449:p.Leu170Ile		617181	NM_014410	A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	C	1.766	-0.485504	0.04352	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22945	1.93;1.93;1.93	4.77	-9.54	0.00572	Clusterin, N-terminal (1);	2.137260	0.01579	N	0.020964	T	0.16128	0.0388	L	0.34521	1.04	0.09310	N	1	B;B	0.30146	0.148;0.27	B;B	0.28011	0.032;0.085	T	0.03443	-1.1036	10	0.21014	T	0.42	10.0741	9.0774	0.36531	0.0:0.1391:0.3449:0.516	.	222;170	F5GWQ8;Q15846	.;CLUL1_HUMAN	I	170;222;170	ENSP00000383449:L170I;ENSP00000441726:L222I;ENSP00000341128:L170I	ENSP00000341128:L170I	L	+	1	0	CLUL1	617181	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.861000	0.04268	-2.744000	0.00378	-0.367000	0.07326	CTC		0.388	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1		
L3MBTL4	91133	broad.mit.edu	37	18	6239789	6239789	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:6239789G>A	ENST00000284898.6	-	9	835	c.635C>T	c.(634-636)gCg>gTg	p.A212V	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.A25V|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.A212V|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.A212V|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.A212V	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	212					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A212V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGCTATGGTCGCCACACACAC	0.438																																					p.A212V	Esophageal Squamous(41;748 902 17366 28959 43175)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C635T	18						.						162.0	134.0	143.0					18																	6239789		2203	4300	6503	6229789	SO:0001583	missense	91133	exon9			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.635C>T	18.37:g.6239789G>A	ENSP00000284898:p.Ala212Val		6229789	NM_173464	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	32	5.161770	0.94727	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.35	4.47	0.54385	.	0.000000	0.64402	D	0.000006	D	0.88317	0.6404	H	0.96365	3.81	0.46609	D	0.999122	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.91193	0.4985	10	0.72032	D	0.01	.	13.1434	0.59448	0.0:0.0:0.8386:0.1614	.	212;212	Q8NA19;F8W9S8	LMBL4_HUMAN;.	V	212;212;212;25;212	ENSP00000382976:A212V;ENSP00000318543:A212V;ENSP00000284898:A212V;ENSP00000444774:A25V;ENSP00000382975:A212V	ENSP00000284898:A212V	A	-	2	0	L3MBTL4	6229789	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	4.264000	0.58859	1.245000	0.43885	0.591000	0.81541	GCG		0.438	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
CDH7	1005	broad.mit.edu	37	18	63547837	63547837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:63547837G>T	ENST00000397968.2	+	12	2491	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.E689*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	689					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E689*(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGTGACTCCAGAAATTCAATT	0.483																																					p.E689X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2065T	18						.						82.0	86.0	85.0					18																	63547837		2203	4300	6503	61698817	SO:0001587	stop_gained	1005	exon12			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2065G>T	18.37:g.63547837G>T	ENSP00000381058:p.Glu689*		61698817	NM_004361	Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	40	8.531593	0.98852	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	.	.	.	5.37	5.37	0.77165	.	0.055638	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.1123	0.93321	0.0:0.0:1.0:0.0	.	.	.	.	X	689	.	ENSP00000319166:E689X	E	+	1	0	CDH7	61698817	1.000000	0.71417	0.659000	0.29680	0.769000	0.43574	7.540000	0.82074	2.515000	0.84797	0.655000	0.94253	GAA		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
CDH19	28513	broad.mit.edu	37	18	64197181	64197181	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:64197181C>T	ENST00000540086.1	-	9	1605	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	CDH19_ENST00000262150.2_Silent_p.S453S	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	561	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S453S(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACAGTGGGATCGAAGAGATCT	0.313																																					p.S453S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1359A	18						.						107.0	103.0	104.0					18																	64197181		2203	4300	6503	62348161	SO:0001819	synonymous_variant	28513	exon9			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1359G>A	18.37:g.64197181C>T			62348161	NM_021153	O15098	Silent	SNP	ENST00000540086.1	37	CCDS59325.1																																																																																				0.313	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
DSEL	92126	broad.mit.edu	37	18	65179453	65179453	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:65179453C>A	ENST00000310045.7	-	2	3896	c.2423G>T	c.(2422-2424)aGa>aTa	p.R808I	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	798					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R808I(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATTAGTTTTCTAAAAGAAAG	0.338																																					p.R808I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2423T	18						.						52.0	53.0	53.0					18																	65179453		2203	4300	6503	63330433	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2423G>T	18.37:g.65179453C>A	ENSP00000310565:p.Arg808Ile		63330433	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867818	0.32977	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18960	2.18	4.98	4.98	0.66077	.	0.181085	0.44483	U	0.000450	T	0.15912	0.0383	N	0.22421	0.69	0.47009	D	0.999286	B	0.33073	0.396	B	0.25884	0.064	T	0.05354	-1.0890	10	0.62326	D	0.03	.	17.8508	0.88747	0.0:1.0:0.0:0.0	.	798	Q8IZU8	DSEL_HUMAN	I	808;798	ENSP00000310565:R808I	ENSP00000310565:R808I	R	-	2	0	DSEL	63330433	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.607000	0.46300	2.309000	0.77851	0.455000	0.32223	AGA		0.338	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
TMX3	54495	broad.mit.edu	37	18	66378626	66378626	+	Missense_Mutation	SNP	C	C	T	rs552445199		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:66378626C>T	ENST00000299608.2	-	3	432	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	TMX3_ENST00000562706.1_Missense_Mutation_p.R39Q|TMX3_ENST00000443099.2_Missense_Mutation_p.R39Q	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	39	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.R39Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GTCATCATTTCGATTTTCTTT	0.289													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0				p.R39Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G116A	18						.						88.0	95.0	93.0					18																	66378626		2202	4289	6491	64529606	SO:0001583	missense	54495	exon3			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.116G>A	18.37:g.66378626C>T	ENSP00000299608:p.Arg39Gln		64529606	NM_019022	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524252	0.85600	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T;T	0.03242	4.0;4.0;4.0	5.36	5.36	0.76844	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.08088	0.0202	N	0.16233	0.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.72338	0.962;0.875;0.977	T	0.56896	-0.7903	10	0.17832	T	0.49	.	16.5775	0.84705	0.0:1.0:0.0:0.0	.	39;39;39	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	Q	39	ENSP00000299608:R39Q;ENSP00000444954:R39Q;ENSP00000402605:R39Q	ENSP00000299608:R39Q	R	-	2	0	TMX3	64529606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.291000	0.72719	2.525000	0.85131	0.650000	0.86243	CGA		0.289	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	
DOK6	220164	broad.mit.edu	37	18	67365722	67365722	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67365722C>A	ENST00000382713.5	+	5	682	c.492C>A	c.(490-492)atC>atA	p.I164I	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	164	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.I164I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ATGAAAATATCTATCTCTGGG	0.448																																					p.I164I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492A	18						.						121.0	101.0	108.0					18																	67365722		2203	4300	6503	65516702	SO:0001819	synonymous_variant	220164	exon5			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.492C>A	18.37:g.67365722C>A			65516702	NM_152721	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Silent	SNP	ENST00000382713.5	37	CCDS32841.1																																																																																				0.448	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
DOK6	220164	broad.mit.edu	37	18	67365805	67365805	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67365805C>T	ENST00000382713.5	+	5	765	c.575C>T	c.(574-576)aCg>aTg	p.T192M	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	192	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.							p.T192M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CGGGACTCAACGTGGTTCACG	0.468																																					p.T192M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	18						.						76.0	65.0	69.0					18																	67365805		2203	4300	6503	65516785	SO:0001583	missense	220164	exon5			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.575C>T	18.37:g.67365805C>T	ENSP00000372160:p.Thr192Met		65516785	NM_152721	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900015	0.33535	.	.	ENSG00000206052	ENST00000382713	D	0.82984	-1.67	5.72	5.72	0.89469	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.86393	0.1737	10	0.39692	T	0.17	.	18.8571	0.92257	0.0:1.0:0.0:0.0	.	192	Q6PKX4	DOK6_HUMAN	M	192	ENSP00000372160:T192M	ENSP00000372160:T192M	T	+	2	0	DOK6	65516785	1.000000	0.71417	0.110000	0.21437	0.356000	0.29392	7.706000	0.84615	2.709000	0.92574	0.591000	0.81541	ACG		0.468	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
CD226	10666	broad.mit.edu	37	18	67562970	67562970	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67562970C>T	ENST00000280200.4	-	4	962	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CD226_ENST00000581982.1_Missense_Mutation_p.E77K|CD226_ENST00000577287.1_Missense_Mutation_p.E77K|CD226_ENST00000582621.1_Missense_Mutation_p.E232K	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	232	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.E232K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACGAAGGTTTCGTTTTCTCCT	0.562																																					p.E232K	NSCLC(184;838 2130 8673 21498 50749)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G694A	18						.						140.0	141.0	141.0					18																	67562970		2203	4300	6503	65713950	SO:0001583	missense	10666	exon4			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.694G>A	18.37:g.67562970C>T	ENSP00000280200:p.Glu232Lys		65713950	NM_006566	B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041596	0.35989	.	.	ENSG00000150637	ENST00000280200	T	0.11712	2.75	4.82	3.0	0.34707	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.865498	0.10488	N	0.668752	T	0.09949	0.0244	L	0.42245	1.32	0.09310	N	1	P	0.38565	0.637	B	0.39339	0.297	T	0.29088	-1.0023	10	0.18276	T	0.48	.	6.5803	0.22589	0.0:0.7811:0.0:0.2189	.	232	Q15762	CD226_HUMAN	K	232	ENSP00000280200:E232K	ENSP00000280200:E232K	E	-	1	0	CD226	65713950	0.003000	0.15002	0.003000	0.11579	0.008000	0.06430	0.434000	0.21494	0.722000	0.32252	0.650000	0.86243	GAA		0.562	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566	
RTTN	25914	broad.mit.edu	37	18	67781784	67781784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67781784C>A	ENST00000255674.6	-	27	3866	c.3580G>T	c.(3580-3582)Gaa>Taa	p.E1194*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.E1194*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1194					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E1194*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTGTTTCTTCTCGTGCCTGT	0.368																																					p.E1194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3580T	18						.						113.0	106.0	108.0					18																	67781784		1867	4113	5980	65932764	SO:0001587	stop_gained	25914	exon27			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3580G>T	18.37:g.67781784C>A	ENSP00000255674:p.Glu1194*		65932764	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	45	11.600150	0.99581	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.66	5.66	0.87406	.	0.279309	0.35525	N	0.003157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.0165	0.58759	0.0:0.9266:0.0:0.0734	.	.	.	.	X	1194	.	ENSP00000255674:E1194X	E	-	1	0	RTTN	65932764	0.502000	0.26107	0.117000	0.21633	0.929000	0.56500	2.152000	0.42272	2.662000	0.90505	0.557000	0.71058	GAA		0.368	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
RTTN	25914	broad.mit.edu	37	18	67788809	67788809	+	Missense_Mutation	SNP	C	C	T	rs189160799	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67788809C>T	ENST00000255674.6	-	26	3797	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	RTTN_ENST00000437017.1_Missense_Mutation_p.E1171K|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1171					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E1171K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAAGTAATTCGAGAATCCAG	0.259													C|||	7	0.00139776	0.0015	0.0	5008	,	,		16678	0.0		0.0	False		,,,				2504	0.0051				p.E1171K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3511A	18						.						58.0	59.0	59.0					18																	67788809		1790	4059	5849	65939789	SO:0001583	missense	25914	exon26			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3511G>A	18.37:g.67788809C>T	ENSP00000255674:p.Glu1171Lys		65939789	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.71	2.913982	0.52546	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	.	0.164624	0.51477	D	0.000089	T	0.58119	0.2100	L	0.52364	1.645	0.80722	D	1	P	0.38677	0.642	B	0.29267	0.1	T	0.60964	-0.7158	10	0.46703	T	0.11	.	14.9585	0.71138	0.0:0.9307:0.0:0.0693	.	1171	Q86VV8	RTTN_HUMAN	K	1171	ENSP00000255674:E1171K;ENSP00000399520:E1171K	ENSP00000255674:E1171K	E	-	1	0	RTTN	65939789	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	2.690000	0.47001	2.941000	0.99782	0.655000	0.94253	GAA		0.259	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
TYMS	7298	broad.mit.edu	37	18	672902	672902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:672902C>T	ENST00000323274.10	+	7	986	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|ENOSF1_ENST00000583973.1_5'Flank	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	283					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)	p.R283*(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	CAGGATTCTTCGAAAAGTTGA	0.393																																					p.R283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C847T	18						.						94.0	101.0	98.0					18																	672902		2203	4300	6503	662902	SO:0001587	stop_gained	7298	exon7			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.847C>T	18.37:g.672902C>T	ENSP00000315644:p.Arg283*		662902	NM_001071	Q8WYK3|Q8WYK4	Nonsense_Mutation	SNP	ENST00000323274.10	37	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973726	0.53720	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	.	0.111500	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7752	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	283;249;200	.	ENSP00000314727:R249X	R	+	1	2	TYMS	662902	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.770000	0.62309	2.785000	0.95823	0.650000	0.86243	CGA		0.393	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071	
SOCS6	9306	broad.mit.edu	37	18	67992744	67992744	+	Silent	SNP	C	C	T	rs41535447	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:67992744C>T	ENST00000397942.3	+	2	1156	c.840C>T	c.(838-840)ttC>ttT	p.F280F	SOCS6_ENST00000582322.1_Silent_p.F280F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	280					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.F280F(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGAGATCTTCGTGGATCAGT	0.582													C|||	4	0.000798722	0.003	0.0	5008	,	,		19539	0.0		0.0	False		,,,				2504	0.0				p.F280F	Melanoma(84;1024 1361 24382 36583 42651)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C840T	18						.	C		10,4396	16.8+/-37.8	0,10,2193	166.0	148.0	154.0		840	-5.8	0.7	18	dbSNP_127	154	0,8600		0,0,4300	no	coding-synonymous	SOCS6	NM_004232.3		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		280/536	67992744	10,12996	2203	4300	6503	66143724	SO:0001819	synonymous_variant	9306	exon2			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.840C>T	18.37:g.67992744C>T			66143724	NM_004232	Q8WUM3	Silent	SNP	ENST00000397942.3	37	CCDS11998.1																																																																																				0.582	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2		
NETO1	81832	broad.mit.edu	37	18	70417353	70417353	+	Silent	SNP	G	G	A	rs201303366		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:70417353G>A	ENST00000327305.6	-	9	2142	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	NETO1_ENST00000583169.1_Silent_p.I495I|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Silent_p.I494I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	495					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.I495I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACCTCTTCGATTTCATCTA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		18133	0.0		0.001	False		,,,				2504	0.0				p.I495I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1485T	18						.						134.0	115.0	122.0					18																	70417353		2203	4300	6503	68568333	SO:0001819	synonymous_variant	81832	exon9			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1485C>T	18.37:g.70417353G>A			68568333	NM_138966	Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	CCDS12000.1																																																																																				0.468	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
ARHGAP28	79822	broad.mit.edu	37	18	6882238	6882238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:6882238G>T	ENST00000383472.4	+	11	1497	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	ARHGAP28_ENST00000531294.1_Nonsense_Mutation_p.E301*|ARHGAP28_ENST00000419673.2_Nonsense_Mutation_p.E306*|ARHGAP28_ENST00000314319.3_Nonsense_Mutation_p.E306*|ARHGAP28_ENST00000532996.1_Nonsense_Mutation_p.E288*|ARHGAP28_ENST00000418986.1_Nonsense_Mutation_p.E306*|ARHGAP28_ENST00000262227.3_Nonsense_Mutation_p.E413*|ARHGAP28_ENST00000400091.2_Nonsense_Mutation_p.E465*			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	465	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E465*(1)|p.E306*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GTTTTTCAGAGAACTACCCAC	0.383																																					p.E306X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G916T	18						.						197.0	184.0	188.0					18																	6882238		2203	4300	6503	6872238	SO:0001587	stop_gained	79822	exon10			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1393G>T	18.37:g.6882238G>T	ENSP00000372964:p.Glu465*		6872238	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Nonsense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	G	37	6.615638	0.97709	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	5.79	5.79	0.91817	.	0.098833	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	.	.	.	X	465;413;306;301;306;306;297;288	.	ENSP00000262227:E413X	E	+	1	0	ARHGAP28	6872238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.154000	0.89641	2.746000	0.94184	0.655000	0.94253	GAA		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
ARHGAP28	79822	broad.mit.edu	37	18	6887207	6887207	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:6887207C>T	ENST00000383472.4	+	12	1609	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A338V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A343V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A343V|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A325V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A343V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A450V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A502V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	502	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.A502V(1)|p.A343V(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATGGTCATGGCGCTGCCTGAT	0.478																																					p.A343V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1028T	18						.						151.0	125.0	134.0					18																	6887207		2203	4300	6503	6877207	SO:0001583	missense	79822	exon11			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1505C>T	18.37:g.6887207C>T	ENSP00000372964:p.Ala502Val		6877207	NM_001010000	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37		.	.	.	.	.	.	.	.	.	.	C	16.27	3.075886	0.55646	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.26	5.56	4.57	0.56435	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.372190	0.26307	N	0.025133	T	0.09468	0.0233	N	0.08118	0	0.24613	N	0.993711	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.10450	0.002;0.002;0.001;0.005	T	0.08513	-1.0718	10	0.46703	T	0.11	.	4.4251	0.11498	0.0:0.703:0.0:0.297	.	502;334;343;450	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	502;450;343;338;343;343;334;325	ENSP00000382963:A502V;ENSP00000262227:A450V;ENSP00000392660:A343V;ENSP00000437262:A338V;ENSP00000313506:A343V;ENSP00000406907:A343V;ENSP00000435990:A334V	ENSP00000262227:A450V	A	+	2	0	ARHGAP28	6877207	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	4.589000	0.61006	2.633000	0.89246	0.478000	0.44815	GCG		0.478	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	
LAMA1	284217	broad.mit.edu	37	18	6943295	6943295	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:6943295T>G	ENST00000389658.3	-	62	9044	c.8951A>C	c.(8950-8952)aAa>aCa	p.K2984T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2984	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.K2984T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTGTTTGCTTTTGTTAGCTTG	0.483																																					p.K2984T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8951C	18						.						311.0	251.0	271.0					18																	6943295		2203	4300	6503	6933295	SO:0001583	missense	284217	exon62			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8951A>C	18.37:g.6943295T>G	ENSP00000374309:p.Lys2984Thr		6933295	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970280	0.53614	.	.	ENSG00000101680	ENST00000389658	T	0.42131	0.98	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.201214	0.38897	N	0.001524	T	0.60971	0.2310	M	0.64567	1.98	0.40524	D	0.98086	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.63812	-0.6552	10	0.54805	T	0.06	.	13.0814	0.59115	0.0:0.0:0.1334:0.8665	.	2984;314	P25391;B3KSD8	LAMA1_HUMAN;.	T	2984	ENSP00000374309:K2984T	ENSP00000374309:K2984T	K	-	2	0	LAMA1	6933295	1.000000	0.71417	0.982000	0.44146	0.192000	0.23643	5.889000	0.69766	2.187000	0.69744	0.460000	0.39030	AAA		0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	6997744	6997744	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:6997744G>A	ENST00000389658.3	-	33	4896	c.4803C>T	c.(4801-4803)ctC>ctT	p.L1601L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1601	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L1601L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TACCTACCTGGAGATATTTAG	0.423																																					p.L1601L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4803T	18						.						144.0	132.0	136.0					18																	6997744		2203	4300	6503	6987744	SO:0001819	synonymous_variant	284217	exon33			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4803C>T	18.37:g.6997744G>A			6987744	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	7014033	7014033	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:7014033G>A	ENST00000389658.3	-	23	3237	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1048	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L1048L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCGACCCCACGAGACTGCAAT	0.483																																					p.L1048L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3144T	18						.						32.0	28.0	29.0					18																	7014033		2203	4300	6503	7004033	SO:0001819	synonymous_variant	284217	exon23			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3144C>T	18.37:g.7014033G>A			7004033	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.483	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	7017280	7017280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:7017280G>T	ENST00000389658.3	-	20	2898	c.2805C>A	c.(2803-2805)tgC>tgA	p.C935*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	935	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.C935*(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCTTACCAAGCACTGGTCAC	0.493																																					p.C935X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2805A	18						.						162.0	117.0	132.0					18																	7017280		2203	4300	6503	7007280	SO:0001587	stop_gained	284217	exon20			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2805C>A	18.37:g.7017280G>T	ENSP00000374309:p.Cys935*		7007280	NM_005559		Nonsense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	39	7.848561	0.98522	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.44	1.59	0.23543	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.232	0.48918	0.3943:0.0:0.6057:0.0	.	.	.	.	X	935	.	ENSP00000374309:C935X	C	-	3	2	LAMA1	7007280	0.958000	0.32768	0.972000	0.41901	0.565000	0.35776	0.585000	0.23879	0.034000	0.15491	-0.847000	0.03039	TGC		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LAMA1	284217	broad.mit.edu	37	18	7023203	7023203	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:7023203G>A	ENST00000389658.3	-	19	2754	c.2661C>T	c.(2659-2661)gaC>gaT	p.D887D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	887	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.D887D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CATAGAACCCGTCAGCACACC	0.587																																					p.D887D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2661T	18						.						94.0	71.0	79.0					18																	7023203		2203	4300	6503	7013203	SO:0001819	synonymous_variant	284217	exon19			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2661C>T	18.37:g.7023203G>A			7013203	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.587	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
NETO1	81832	broad.mit.edu	37	18	70461450	70461450	+	Missense_Mutation	SNP	C	C	T	rs138679154		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:70461450C>T	ENST00000327305.6	-	6	1198	c.541G>A	c.(541-543)Gga>Aga	p.G181R	NETO1_ENST00000583169.1_Missense_Mutation_p.G181R|NETO1_ENST00000299430.2_Missense_Mutation_p.G180R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	181	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.G181R(2)|p.G181*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCACAATTCCTTCGGAACCG	0.428																																					p.G181R												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(1)|stomach(1)|skin(1)	c.G541A	18						.						113.0	106.0	109.0					18																	70461450		2203	4300	6503	68612430	SO:0001583	missense	81832	exon6			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.541G>A	18.37:g.70461450C>T	ENSP00000313088:p.Gly181Arg		68612430	NM_138966	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868564	0.91587	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.34667	1.35;1.35	5.29	5.29	0.74685	CUB (4);	0.000000	0.56097	D	0.000022	T	0.65678	0.2714	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71213	-0.4659	10	0.87932	D	0	-29.4775	18.9328	0.92572	0.0:1.0:0.0:0.0	.	180;181	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	R	181;180	ENSP00000313088:G181R;ENSP00000299430:G180R	ENSP00000299430:G180R	G	-	1	0	NETO1	68612430	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GGA		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000309902.6_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S57S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413																																					p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G171A	18						.						91.0	89.0	90.0					18																	72343146		1841	4084	5925	70472134	SO:0001819	synonymous_variant	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.171G>A	18.37:g.72343146G>A			70472134	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72343541	72343541	+	Missense_Mutation	SNP	G	G	T	rs370362692		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72343541G>T	ENST00000299687.5	+	1	566	c.566G>T	c.(565-567)aGc>aTc	p.S189I	ZNF407_ENST00000577538.1_Missense_Mutation_p.S189I|ZNF407_ENST00000582337.1_Missense_Mutation_p.S189I|ZNF407_ENST00000309902.6_Missense_Mutation_p.S189I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S189I(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTCAAATGCAGCATCTGTGGG	0.438																																					p.S189I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566T	18						.						152.0	154.0	153.0					18																	72343541		1962	4140	6102	70472529	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.566G>T	18.37:g.72343541G>T	ENSP00000299687:p.Ser189Ile		70472529	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921390	0.33908	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10005	2.92;3.34	5.63	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	2.999750	0.03613	U	0.235091	T	0.19525	0.0469	M	0.69463	2.115	0.09310	N	1	P;P;B	0.40875	0.731;0.547;0.412	B;B;B	0.44224	0.444;0.347;0.188	T	0.25433	-1.0132	10	0.37606	T	0.19	.	8.2994	0.32006	0.3628:0.0:0.6372:0.0	.	189;189;189	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	I	189	ENSP00000299687:S189I;ENSP00000310359:S189I	ENSP00000299687:S189I	S	+	2	0	ZNF407	70472529	0.001000	0.12720	0.000000	0.03702	0.129000	0.20672	0.211000	0.17474	-0.206000	0.10203	0.655000	0.94253	AGC		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72345662	72345662	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72345662G>A	ENST00000299687.5	+	1	2687	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	ZNF407_ENST00000577538.1_Missense_Mutation_p.R896H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R896H|ZNF407_ENST00000309902.6_Missense_Mutation_p.R896H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	896					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R896H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GATATGGAACGTCATTGTGCC	0.398																																					p.R896H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2687A	18						.						100.0	97.0	98.0					18																	72345662		1930	4139	6069	70474650	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2687G>A	18.37:g.72345662G>A	ENSP00000299687:p.Arg896His		70474650	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768943	0.90020	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.30981	1.51;1.51	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.074358	0.51477	D	0.000100	T	0.59514	0.2199	M	0.69523	2.12	0.35018	D	0.757517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.67039	-0.5771	10	0.56958	D	0.05	.	20.1346	0.98019	0.0:0.0:1.0:0.0	.	896;896;896	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	896	ENSP00000299687:R896H;ENSP00000310359:R896H	ENSP00000299687:R896H	R	+	2	0	ZNF407	70474650	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	9.476000	0.97823	-0.117000	0.11872	0.455000	0.32223	CGT		0.398	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72347615	72347615	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72347615G>A	ENST00000299687.5	+	1	4640	c.4640G>A	c.(4639-4641)cGa>cAa	p.R1547Q	ZNF407_ENST00000577538.1_Missense_Mutation_p.R1547Q|ZNF407_ENST00000582337.1_Missense_Mutation_p.R1547Q|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1547Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1547Q(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAGATGTGTCGAAGCAGCAAC	0.512																																					p.R1547Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4640A	18						.						88.0	97.0	94.0					18																	72347615		2113	4228	6341	70476603	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4640G>A	18.37:g.72347615G>A	ENSP00000299687:p.Arg1547Gln		70476603	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474322	0.84640	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.76968	-1.06;3.21	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199932	0.33092	N	0.005291	T	0.76241	0.3960	N	0.08118	0	0.31137	N	0.707066	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.984;0.965	T	0.76645	-0.2883	10	0.59425	D	0.04	.	12.1634	0.54117	0.0786:0.0:0.9214:0.0	.	1547;1547;1547	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	Q	1547	ENSP00000299687:R1547Q;ENSP00000310359:R1547Q	ENSP00000299687:R1547Q	R	+	2	0	ZNF407	70476603	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	7.103000	0.77014	-0.407000	0.07576	0.477000	0.44152	CGA		0.512	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72632493	72632493	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72632493G>A	ENST00000299687.5	+	7	5273	c.5273G>A	c.(5272-5274)cGc>cAc	p.R1758H	ZNF407_ENST00000577538.1_Missense_Mutation_p.R1758H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1758H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAATATCCGCAAACACATT	0.398																																					p.R1758H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5273A	18						.						87.0	85.0	86.0					18																	72632493		1982	4181	6163	70761481	SO:0001583	missense	55628	exon7			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5273G>A	18.37:g.72632493G>A	ENSP00000299687:p.Arg1758His		70761481	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596014	0.86953	.	.	ENSG00000215421	ENST00000299687	T	0.44482	0.92	5.57	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000017	T	0.39462	0.1079	M	0.66297	2.02	0.80722	D	1	P;P	0.41710	0.76;0.647	B;B	0.34873	0.191;0.093	T	0.40627	-0.9553	10	0.49607	T	0.09	.	12.9471	0.58379	0.0751:0.0:0.9249:0.0	.	1758;1758	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	H	1758	ENSP00000299687:R1758H	ENSP00000299687:R1758H	R	+	2	0	ZNF407	70761481	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.722000	0.98770	1.474000	0.48178	-0.176000	0.13171	CGC		0.398	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZADH2	284273	broad.mit.edu	37	18	72913443	72913443	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72913443A>C	ENST00000322342.3	-	2	1351	c.1062T>G	c.(1060-1062)aaT>aaG	p.N354K	ZADH2_ENST00000537114.2_Missense_Mutation_p.N231K	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	354						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.N354K(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGTACATATAATTGACAGCAC	0.433																																					p.N354K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1062G	18						.						78.0	78.0	78.0					18																	72913443		2203	4300	6503	71042431	SO:0001583	missense	284273	exon2			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.1062T>G	18.37:g.72913443A>C	ENSP00000323678:p.Asn354Lys		71042431	NM_175907	A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204159	0.38905	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.13196	3.49;2.61	5.61	-0.016	0.13974	.	0.176608	0.48286	D	0.000181	T	0.06005	0.0156	N	0.12961	0.28	0.33803	D	0.626894	B	0.13594	0.008	B	0.16289	0.015	T	0.34179	-0.9839	10	0.11182	T	0.66	-0.1122	8.6209	0.33859	0.6382:0.0:0.3618:0.0	.	354	Q8N4Q0	ZADH2_HUMAN	K	354;231	ENSP00000323678:N354K;ENSP00000440111:N231K	ENSP00000323678:N354K	N	-	3	2	ZADH2	71042431	0.999000	0.42202	0.933000	0.37362	0.837000	0.47467	0.753000	0.26376	1.074000	0.40909	-0.269000	0.10298	AAT		0.433	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	
TSHZ1	10194	broad.mit.edu	37	18	72999016	72999016	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:72999016C>A	ENST00000580243.1	+	2	2002	c.1654C>A	c.(1654-1656)Ctc>Atc	p.L552I	TSHZ1_ENST00000322038.5_Missense_Mutation_p.L507I			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	552					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L507I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCTGGACATTCTCAAGTCCCT	0.592																																					p.L507I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1519A	18						.						94.0	92.0	92.0					18																	72999016		2203	4300	6503	71128004	SO:0001583	missense	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1654C>A	18.37:g.72999016C>A	ENSP00000464391:p.Leu552Ile		71128004	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	C	9.259	1.042764	0.19748	.	.	ENSG00000179981	ENST00000322038	T	0.52295	0.67	5.42	3.3	0.37823	.	0.070473	0.53938	D	0.000057	T	0.49236	0.1545	M	0.83483	2.645	0.39787	D	0.972384	P	0.48294	0.908	B	0.41860	0.368	T	0.61113	-0.7128	10	0.66056	D	0.02	-25.6923	8.8976	0.35474	0.0:0.7282:0.0:0.2718	.	552	Q6ZSZ6	TSH1_HUMAN	I	507	ENSP00000323584:L507I	ENSP00000323584:L507I	L	+	1	0	TSHZ1	71128004	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	2.946000	0.49050	2.052000	0.61016	0.459000	0.35465	CTC		0.592	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
TSHZ1	10194	broad.mit.edu	37	18	73000268	73000268	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:73000268T>C	ENST00000580243.1	+	2	3254	c.2906T>C	c.(2905-2907)gTt>gCt	p.V969A	TSHZ1_ENST00000322038.5_Missense_Mutation_p.V924A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	969					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V924A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGGCATCCTGTTTTCTTTTGC	0.488																																					p.V924A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2771C	18						.						115.0	93.0	101.0					18																	73000268		2203	4300	6503	71129256	SO:0001583	missense	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2906T>C	18.37:g.73000268T>C	ENSP00000464391:p.Val969Ala		71129256	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	T	10.45	1.354059	0.24512	.	.	ENSG00000179981	ENST00000322038	T	0.01572	4.76	5.1	5.1	0.69264	.	0.066792	0.64402	D	0.000013	T	0.03608	0.0103	L	0.31207	0.915	0.32123	N	0.587712	D	0.56746	0.977	P	0.50590	0.645	T	0.04413	-1.0953	10	0.87932	D	0	-21.504	15.1778	0.72927	0.0:0.0:0.0:1.0	.	969	Q6ZSZ6	TSH1_HUMAN	A	924	ENSP00000323584:V924A	ENSP00000323584:V924A	V	+	2	0	TSHZ1	71129256	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.655000	0.83696	-0.203000	0.10251	0.533000	0.62120	GTT		0.488	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
SMIM21	284274	broad.mit.edu	37	18	73139426	73139426	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:73139426G>T	ENST00000579022.1	-	1	232	c.93C>A	c.(91-93)ttC>ttA	p.F31L	SMIM21_ENST00000382638.3_Missense_Mutation_p.F31L|SMIM21_ENST00000584508.1_Missense_Mutation_p.F31L	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	31						integral component of membrane (GO:0016021)		p.F31F(1)|p.F31L(1)									AATTCCCCTTGAATATCCGTC	0.483																																					p.F31L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.C93A	18						.						225.0	198.0	207.0					18																	73139426		2203	4300	6503	71268414	SO:0001583	missense	284274	exon1				CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.93C>A	18.37:g.73139426G>T	ENSP00000462106:p.Phe31Leu		71268414	NM_001037331		Missense_Mutation	SNP	ENST00000579022.1	37	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	G	5.411	0.261014	0.10239	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.28	0.159	0.14968	.	.	.	.	.	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20075	-1.0286	8	0.87932	D	0	.	6.2952	0.21081	0.0:0.0:0.4674:0.5326	.	31	Q3B7S5	CR062_HUMAN	L	31	.	ENSP00000372083:F31L	F	-	3	2	C18orf62	71268414	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.288000	0.18939	-0.284000	0.09102	0.260000	0.18958	TTC		0.483	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331	
ZNF516	9658	broad.mit.edu	37	18	74090831	74090831	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:74090831C>T	ENST00000443185.2	-	5	3555	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1080					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.G1079S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AACCCAGGGCCGCTGACACCC	0.622																																					p.R1080Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3239A	18						.						28.0	32.0	30.0					18																	74090831		1995	4173	6168	72219819	SO:0001583	missense	9658	exon4			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3238G>A	18.37:g.74090831C>T	ENSP00000394757:p.Gly1080Ser		72219819	NM_014643		Missense_Mutation	SNP	ENST00000443185.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.727|0.727	-0.781440|-0.781440	0.02929|0.02929	.|.	.|.	ENSG00000101493|ENSG00000101493	ENST00000443185|ENST00000542818	T|.	0.08102|.	3.13|.	4.26|4.26	-2.68|-2.68	0.06041|0.06041	.|.	0.768945|.	0.12126|.	N|.	0.497275|.	T|T	0.26268|0.26268	0.0641|0.0641	N|N	0.16266|0.16266	0.395|0.395	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.27468|0.27468	-1.0073|-1.0073	10|5	0.02654|.	T|.	1|.	.|.	11.6302|11.6302	0.51168|0.51168	0.0:0.2074:0.0:0.7926|0.0:0.2074:0.0:0.7926	.|.	1080|.	Q92618|.	ZN516_HUMAN|.	S|Q	1080|13	ENSP00000394757:G1080S|.	ENSP00000394757:G1080S|.	G|R	-|-	1|2	0|0	ZNF516|ZNF516	72219819|72219819	0.725000|0.725000	0.28048|0.28048	0.009000|0.009000	0.14445|0.14445	0.861000|0.861000	0.49209|0.49209	0.939000|0.939000	0.28978|0.28978	-0.854000|-0.854000	0.04131|0.04131	-0.948000|-0.948000	0.02665|0.02665	GGC|CGG		0.622	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
ZNF516	9658	broad.mit.edu	37	18	74092021	74092021	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:74092021C>A	ENST00000443185.2	-	4	2366	c.2049G>T	c.(2047-2049)gaG>gaT	p.E683D	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	683					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.E683D(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACGGGCACCTCCTGCTTGG	0.527																																					p.E683D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2049T	18						.						61.0	65.0	64.0					18																	74092021		1963	4167	6130	72221009	SO:0001583	missense	9658	exon4			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2049G>T	18.37:g.74092021C>A	ENSP00000394757:p.Glu683Asp		72221009	NM_014643		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	C	9.903	1.207433	0.22205	.	.	ENSG00000101493	ENST00000443185	T	0.10477	2.87	4.22	1.37	0.22104	.	0.483211	0.19134	N	0.121863	T	0.05181	0.0138	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.39165	-0.9627	9	0.22706	T	0.39	-19.2348	2.625	0.04927	0.1515:0.5443:0.1474:0.1568	.	683	Q92618	ZN516_HUMAN	D	683	ENSP00000394757:E683D	ENSP00000394757:E683D	E	-	3	2	ZNF516	72221009	0.544000	0.26441	0.032000	0.17829	0.194000	0.23727	0.589000	0.23939	0.068000	0.16574	0.655000	0.94253	GAG		0.527	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
ZNF236	7776	broad.mit.edu	37	18	74583767	74583767	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:74583767T>A	ENST00000253159.8	+	5	845	c.647T>A	c.(646-648)aTt>aAt	p.I216N	ZNF236_ENST00000320610.9_Missense_Mutation_p.I218N|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	216					cellular response to glucose stimulus (GO:0071333)|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.I216N(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACGCGACACATTAGGATACAC	0.468																																					p.I216N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T647A	18						.						127.0	115.0	119.0					18																	74583767		2045	4184	6229	72712755	SO:0001583	missense	7776	exon5			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.647T>A	18.37:g.74583767T>A	ENSP00000253159:p.Ile216Asn		72712755	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041537	0.55003	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.08458	3.09;3.09	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.192597	0.43260	D	0.000598	T	0.22781	0.0550	M	0.63169	1.94	0.25759	N	0.984968	B;D	0.61697	0.19;0.99	B;D	0.64877	0.071;0.93	T	0.14309	-1.0477	10	0.18276	T	0.48	.	15.7353	0.77837	0.0:0.0:0.0:1.0	.	216;216	Q9NWI2;Q9UL36	.;ZN236_HUMAN	N	216	ENSP00000253159:I216N;ENSP00000444524:I216N	ENSP00000253159:I216N	I	+	2	0	ZNF236	72712755	1.000000	0.71417	0.001000	0.08648	0.863000	0.49368	7.506000	0.81665	2.178000	0.69098	0.533000	0.62120	ATT		0.468	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ZNF236	7776	broad.mit.edu	37	18	74620320	74620320	+	Missense_Mutation	SNP	C	C	T	rs372076275		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:74620320C>T	ENST00000253159.8	+	14	2534	c.2336C>T	c.(2335-2337)tCg>tTg	p.S779L	ZNF236_ENST00000320610.9_Missense_Mutation_p.S781L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	779					cellular response to glucose stimulus (GO:0071333)|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.S779L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGGCAGCCTCGATAGATGAC	0.527																																					p.S779L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2336T	18						.	C	LEU/SER	0,4166		0,0,2083	121.0	128.0	126.0		2336	5.2	0.0	18		126	1,8453		0,1,4226	no	missense	ZNF236	NM_007345.3	145	0,1,6309	TT,TC,CC		0.0118,0.0,0.0079	benign	779/1846	74620320	1,12619	2083	4227	6310	72749308	SO:0001583	missense	7776	exon14			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2336C>T	18.37:g.74620320C>T	ENSP00000253159:p.Ser779Leu		72749308	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132109	0.37630	0.0	1.18E-4	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.95	5.23	5.23	0.72850	.	0.189286	0.40818	N	0.001019	T	0.14442	0.0349	M	0.65975	2.015	0.30642	N	0.756324	P	0.37997	0.614	B	0.28553	0.091	T	0.06463	-1.0825	10	0.52906	T	0.07	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	779	Q9UL36	ZN236_HUMAN	L	779	ENSP00000253159:S779L;ENSP00000444524:S779L	ENSP00000253159:S779L	S	+	2	0	ZNF236	72749308	0.208000	0.23494	0.000000	0.03702	0.019000	0.09904	3.211000	0.51137	2.600000	0.87896	0.563000	0.77884	TCG		0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
GALR1	2587	broad.mit.edu	37	18	74980805	74980805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:74980805G>T	ENST00000299727.3	+	3	997	c.997G>T	c.(997-999)Gaa>Taa	p.E333*		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	333					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.E333*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGATACTAAAGAAAGTAAAAG	0.368																																					p.E333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G997T	18						.						73.0	78.0	76.0					18																	74980805		2203	4300	6503	73109793	SO:0001587	stop_gained	2587	exon3			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.997G>T	18.37:g.74980805G>T	ENSP00000299727:p.Glu333*		73109793	NM_001480	Q4VBL7	Nonsense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110102	0.77210	.	.	ENSG00000166573	ENST00000299727	.	.	.	4.86	4.86	0.63082	.	0.117930	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	17.6142	0.88064	0.0:0.0:1.0:0.0	.	.	.	.	X	333	.	ENSP00000299727:E333X	E	+	1	0	GALR1	73109793	1.000000	0.71417	0.027000	0.17364	0.292000	0.27327	9.109000	0.94291	2.257000	0.74773	0.460000	0.39030	GAA		0.368	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1		
SALL3	27164	broad.mit.edu	37	18	76757026	76757026	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:76757026C>T	ENST00000537592.2	+	3	3607	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	SALL3_ENST00000536229.3_Missense_Mutation_p.R998W|SALL3_ENST00000575389.2_Missense_Mutation_p.R1131W	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1203					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1203W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCTGGCAGCTCGGGCAATGAA	0.582																																					p.R1203W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3607T	18						.						74.0	72.0	72.0					18																	76757026		2203	4300	6503	74858014	SO:0001583	missense	27164	exon3			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3607C>T	18.37:g.76757026C>T	ENSP00000441823:p.Arg1203Trp		74858014	NM_171999	Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	8.606	0.887987	0.17540	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.54675	0.56	5.2	4.31	0.51392	.	0.000000	0.47455	D	0.000230	T	0.73179	0.3554	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.985;0.992	T	0.77978	-0.2384	10	0.87932	D	0	-17.689	14.8733	0.70474	0.1446:0.8554:0.0:0.0	.	863;1203	F5GXY4;Q9BXA9	.;SALL3_HUMAN	W	1203;1131;863	ENSP00000441823:R1203W	ENSP00000299466:R1203W	R	+	1	2	SALL3	74858014	1.000000	0.71417	0.044000	0.18714	0.286000	0.27126	4.764000	0.62264	1.145000	0.42336	0.561000	0.74099	CGG		0.582	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
ATP9B	374868	broad.mit.edu	37	18	76936828	76936828	+	Missense_Mutation	SNP	G	G	A	rs140291894		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:76936828G>A	ENST00000426216.2	+	8	811	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R265Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	265					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R265Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TGTTTTATTCGAACTGATCAA	0.448																																					p.R265Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G794A	18						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	102.0	103.0		794	5.6	1.0	18	dbSNP_134	103	0,8600		0,0,4300	no	missense	ATP9B	NM_198531.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	265/1148	76936828	2,13004	2203	4300	6503	75037816	SO:0001583	missense	374868	exon8			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.794G>A	18.37:g.76936828G>A	ENSP00000398076:p.Arg265Gln		75037816	NM_198531	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504855	0.96371	4.54E-4	0.0	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90444	-2.67;-2.67	5.56	5.56	0.83823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.95811	0.8841	10	0.87932	D	0	.	19.5243	0.95197	0.0:0.0:1.0:0.0	.	265;265	O43861;O43861-2	ATP9B_HUMAN;.	Q	265	ENSP00000398076:R265Q;ENSP00000304500:R265Q	ENSP00000304500:R265Q	R	+	2	0	ATP9B	75037816	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.857000	0.92250	2.605000	0.88082	0.655000	0.94253	CGA		0.448	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
NFATC1	4772	broad.mit.edu	37	18	77211016	77211016	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:77211016C>T	ENST00000427363.2	+	5	1652	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	NFATC1_ENST00000397790.2_Missense_Mutation_p.T79M|NFATC1_ENST00000587635.1_Missense_Mutation_p.T551M|NFATC1_ENST00000542384.1_Missense_Mutation_p.T551M|NFATC1_ENST00000591814.1_Missense_Mutation_p.T551M|NFATC1_ENST00000592223.1_Missense_Mutation_p.T538M|NFATC1_ENST00000329101.4_Missense_Mutation_p.T538M|NFATC1_ENST00000545796.1_Missense_Mutation_p.T79M|NFATC1_ENST00000253506.5_Missense_Mutation_p.T551M|NFATC1_ENST00000318065.5_Missense_Mutation_p.T538M|NFATC1_ENST00000586434.1_Missense_Mutation_p.T538M			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	551	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T538M(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	AAAGGAGAGACGGACATCGGG	0.572																																					p.T551M	GBM(151;1210 2593 28719 45011)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1652T	18						.						126.0	129.0	128.0					18																	77211016		2203	4300	6503	75312004	SO:0001583	missense	4772	exon5			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1652C>T	18.37:g.77211016C>T	ENSP00000389377:p.Thr551Met		75312004	NM_006162	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37		.	.	.	.	.	.	.	.	.	.	C	16.54	3.152534	0.57259	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	4.65	4.65	0.58169	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.110995	0.64402	D	0.000010	D	0.93064	0.7792	M	0.86028	2.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.993;0.993;0.989;1.0	D	0.94400	0.7622	10	0.87932	D	0	-23.153	17.5435	0.87854	0.0:1.0:0.0:0.0	.	538;538;551;551;551;538;551	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	M	551;551;79;551;538;79;538;515	ENSP00000253506:T551M;ENSP00000380892:T79M;ENSP00000442435:T551M;ENSP00000327850:T538M;ENSP00000439992:T79M	ENSP00000253506:T551M	T	+	2	0	NFATC1	75312004	1.000000	0.71417	0.922000	0.36590	0.257000	0.26127	5.742000	0.68646	2.144000	0.66660	0.563000	0.77884	ACG		0.572	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390	
CTDP1	9150	broad.mit.edu	37	18	77470382	77470382	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:77470382G>A	ENST00000299543.7	+	6	956	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	CTDP1_ENST00000075430.7_Missense_Mutation_p.R270Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	270	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.R270Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTTTCTCACCGAATATTATCA	0.443																																					p.R270Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	18						.						166.0	184.0	178.0					18																	77470382		2203	4300	6503	75571370	SO:0001583	missense	9150	exon6			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.809G>A	18.37:g.77470382G>A	ENSP00000299543:p.Arg270Gln		75571370	NM_048368	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977628	0.92982	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.20881	2.04;2.04	4.42	4.42	0.53409	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78247	-0.2278	10	0.87932	D	0	-11.0565	17.3991	0.87454	0.0:0.0:1.0:0.0	.	151;270;270	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	Q	270	ENSP00000299543:R270Q;ENSP00000075430:R270Q	ENSP00000075430:R270Q	R	+	2	0	CTDP1	75571370	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	8.916000	0.92745	2.170000	0.68504	0.462000	0.41574	CGA		0.443	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
CTDP1	9150	broad.mit.edu	37	18	77472976	77472976	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:77472976C>A	ENST00000299543.7	+	7	1015	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	CTDP1_ENST00000075430.7_Missense_Mutation_p.L290I	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	290	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.L290I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TTGTAGAAATCTCTTTCCTTG	0.333																																					p.L290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868A	18						.						74.0	75.0	75.0					18																	77472976		2203	4300	6503	75573964	SO:0001583	missense	9150	exon7			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.868C>A	18.37:g.77472976C>A	ENSP00000299543:p.Leu290Ile		75573964	NM_048368	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899893	0.72754	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.21543	2.0;2.0	4.91	4.91	0.64330	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.91635	0.939;0.998;0.999	T	0.16719	-1.0393	10	0.48119	T	0.1	-33.8782	12.8805	0.58014	0.0:0.9208:0.0:0.0792	.	171;290;290	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	I	290	ENSP00000299543:L290I;ENSP00000075430:L290I	ENSP00000075430:L290I	L	+	1	0	CTDP1	75573964	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	4.033000	0.57282	2.399000	0.81585	0.655000	0.94253	CTC		0.333	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715	
ADNP2	22850	broad.mit.edu	37	18	77893502	77893502	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:77893502G>A	ENST00000262198.4	+	4	661	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	69					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R69Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CAGAGATATCGAACAAAGCCA	0.368																																					p.R69Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	18						.																																			75994493	SO:0001583	missense	22850	exon4			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.206G>A	18.37:g.77893502G>A	ENSP00000262198:p.Arg69Gln		75994493	NM_014913	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738988	0.89573	.	.	ENSG00000101544	ENST00000262198	T	0.73897	-0.79	5.44	4.57	0.56435	.	0.000000	0.56097	D	0.000030	T	0.69788	0.3150	M	0.64404	1.975	0.34978	D	0.753838	P	0.50066	0.931	B	0.39119	0.291	T	0.79240	-0.1885	9	.	.	.	-11.6939	14.4299	0.67243	0.0703:0.0:0.9297:0.0	.	69	Q6IQ32	ADNP2_HUMAN	Q	69	ENSP00000262198:R69Q	.	R	+	2	0	ADNP2	75994493	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	8.036000	0.88901	1.536000	0.49237	0.655000	0.94253	CGA		0.368	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
PTPRM	5797	broad.mit.edu	37	18	8085745	8085745	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:8085745G>A	ENST00000332175.8	+	10	2665	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	PTPRM_ENST00000444013.1_Missense_Mutation_p.G330E|PTPRM_ENST00000400060.4_Missense_Mutation_p.G543E|PTPRM_ENST00000400053.4_Missense_Mutation_p.G481E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.G543E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	543	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G543E(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCAAAGCTGGGAAATGAAACC	0.433																																					p.G543E												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1628A	18						.						108.0	99.0	102.0					18																	8085745		2203	4299	6502	8075745	SO:0001583	missense	5797	exon10			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1628G>A	18.37:g.8085745G>A	ENSP00000331418:p.Gly543Glu		8075745	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454608	0.43634	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052746	0.85682	D	0.000000	T	0.62282	0.2415	M	0.80422	2.495	0.54753	D	0.999986	P;P;P	0.49307	0.851;0.922;0.922	P;P;P	0.49085	0.584;0.6;0.6	T	0.62515	-0.6838	10	0.02654	T	1	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	330;543;543	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	543;543;481;330	ENSP00000331418:G543E;ENSP00000382933:G543E;ENSP00000382927:G481E;ENSP00000387608:G330E	ENSP00000331418:G543E	G	+	2	0	PTPRM	8075745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.503000	0.66962	2.781000	0.95711	0.650000	0.86243	GGA		0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8253336	8253336	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:8253336T>C	ENST00000332175.8	+	17	3676	c.2639T>C	c.(2638-2640)aTc>aCc	p.I880T	PTPRM_ENST00000444013.1_Missense_Mutation_p.I667T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I894T|PTPRM_ENST00000400053.4_Missense_Mutation_p.I818T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I893T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	880					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I880T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CACCCCGCCATCCGGGTGGCA	0.602																																					p.I880T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2639C	18						.						42.0	32.0	36.0					18																	8253336		2203	4300	6503	8243336	SO:0001583	missense	5797	exon17			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2639T>C	18.37:g.8253336T>C	ENSP00000331418:p.Ile880Thr		8243336	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525484	0.64860	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.55588	0.83;0.84;0.66;0.51	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.77313	2.365	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.985	D;D;D	0.68765	0.933;0.96;0.96	T	0.76705	-0.2861	10	0.87932	D	0	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	667;893;880	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	880;894;818;667	ENSP00000331418:I880T;ENSP00000382933:I894T;ENSP00000382927:I818T;ENSP00000387608:I667T	ENSP00000331418:I880T	I	+	2	0	PTPRM	8243336	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.036000	0.88901	2.317000	0.78254	0.459000	0.35465	ATC		0.602	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
MTCL1	23255	broad.mit.edu	37	18	8813096	8813096	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:8813096C>A	ENST00000306329.11	+	10	3681	c.3681C>A	c.(3679-3681)gtC>gtA	p.V1227V	SOGA2_ENST00000306285.7_Silent_p.V261V|SOGA2_ENST00000359865.3_Silent_p.V908V|SOGA2_ENST00000517570.1_Silent_p.V867V|SOGA2_ENST00000400050.3_Silent_p.V867V|SOGA2_ENST00000518815.1_Silent_p.V261V														p.V908V(1)									ACAGCCTGGTCATGGACCTGC	0.592																																					p.V908V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2724A	18						.						52.0	50.0	51.0					18																	8813096		2203	4300	6503	8803096	SO:0001819	synonymous_variant	23255	exon12																														ENST00000306329.11:c.3681C>A	18.37:g.8813096C>A			8803096	NM_015210		Silent	SNP	ENST00000306329.11	37		.	.	.	.	.	.	.	.	.	.	C	10.88	1.475881	0.26511	.	.	ENSG00000168502	ENST00000519823	.	.	.	4.96	-1.86	0.07760	.	.	.	.	.	T	0.53514	0.1801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49011	-0.8983	4	.	.	.	-25.4183	8.5698	0.33563	0.0:0.3795:0.4009:0.2196	.	.	.	.	N	42	.	.	H	+	1	0	CCDC165	8803096	0.686000	0.27661	0.993000	0.49108	0.991000	0.79684	-0.153000	0.10144	-0.206000	0.10203	0.462000	0.41574	CAT		0.592	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
ANKRD12	23253	broad.mit.edu	37	18	9195585	9195585	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9195585A>C	ENST00000262126.4	+	3	364	c.124A>C	c.(124-126)Aaa>Caa	p.K42Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K42Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K42Q|ANKRD12_ENST00000540578.2_3'UTR	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K42Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAAAACTCCAAAAATTGAACG	0.328																																					p.K42Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A124C	18						.						67.0	61.0	63.0					18																	9195585		2203	4300	6503	9185585	SO:0001583	missense	23253	exon3			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.124A>C	18.37:g.9195585A>C	ENSP00000262126:p.Lys42Gln		9185585	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792671	0.70452	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.48201	3.44;0.82;3.44	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	0.993;1.0;0.999	P;D;D	0.85130	0.796;0.997;0.991	T	0.71140	-0.4679	10	0.87932	D	0	-0.8258	15.9507	0.79835	1.0:0.0:0.0:0.0	.	42;42;42	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	42	ENSP00000372932:K42Q;ENSP00000441510:K42Q;ENSP00000262126:K42Q	ENSP00000262126:K42Q	K	+	1	0	ANKRD12	9185585	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.548000	0.90669	2.178000	0.69098	0.454000	0.30748	AAA		0.328	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9254422	9254422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9254422G>A	ENST00000262126.4	+	9	1397	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R363Q|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R363Q	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	386						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R386Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAGAACAACGAAAAGAAAAT	0.323																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	18						.						80.0	86.0	84.0					18																	9254422		2203	4300	6503	9244422	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1157G>A	18.37:g.9254422G>A	ENSP00000262126:p.Arg386Gln		9244422	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684659	0.47991	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000359158	T;T	0.05925	3.44;3.37	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.74881	2.28	0.45097	D	0.998119	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.79108	0.928;0.873;0.992	T	0.00491	-1.1708	10	0.87932	D	0	-7.6776	10.603	0.45377	0.146:0.0:0.854:0.0	.	13;363;386	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Q	363;363;386;93	ENSP00000372932:R363Q;ENSP00000262126:R386Q	ENSP00000262126:R386Q	R	+	2	0	ANKRD12	9244422	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.462000	0.60121	1.397000	0.46682	0.650000	0.86243	CGA		0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9255570	9255570	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9255570G>A	ENST00000262126.4	+	9	2545	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D746N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D746N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	769						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D769N(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAAATAAAAGATCTAAAAGA	0.353																																					p.D769N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2305A	18						.						60.0	64.0	63.0					18																	9255570		2197	4288	6485	9245570	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2305G>A	18.37:g.9255570G>A	ENSP00000262126:p.Asp769Asn		9245570	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438966	0.63067	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.51071	0.72;0.72	4.9	4.9	0.64082	.	0.062535	0.64402	D	0.000006	T	0.66167	0.2762	M	0.62723	1.935	0.52099	D	0.999944	D;D;D	0.89917	1.0;0.992;0.999	D;P;D	0.74023	0.982;0.747;0.922	T	0.64597	-0.6370	10	0.37606	T	0.19	-26.3635	18.4348	0.90642	0.0:0.0:1.0:0.0	.	396;746;769	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	N	746;769	ENSP00000372932:D746N;ENSP00000262126:D769N	ENSP00000262126:D769N	D	+	1	0	ANKRD12	9245570	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	7.313000	0.78978	2.421000	0.82119	0.460000	0.39030	GAT		0.353	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9257187	9257187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9257187C>T	ENST00000262126.4	+	9	4162	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.R1285*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.R1285*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1308						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R1308*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CATAGAAGTTCGAAGATGTAG	0.393																																					p.R1308X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3922T	18						.						108.0	104.0	105.0					18																	9257187		2203	4300	6503	9247187	SO:0001587	stop_gained	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3922C>T	18.37:g.9257187C>T	ENSP00000262126:p.Arg1308*		9247187	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	43	9.962398	0.99305	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	.	.	.	5.75	2.84	0.33178	.	0.205194	0.33650	N	0.004690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.661	11.3037	0.49323	0.2642:0.6153:0.1206:0.0	.	.	.	.	X	1285;1308	.	ENSP00000262126:R1308X	R	+	1	2	ANKRD12	9247187	0.996000	0.38824	0.971000	0.41717	0.945000	0.59286	1.105000	0.31086	0.275000	0.22094	0.655000	0.94253	CGA		0.393	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9258721	9258721	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9258721C>T	ENST00000262126.4	+	9	5696	c.5456C>T	c.(5455-5457)tCt>tTt	p.S1819F	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1796F|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1796F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1819						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1819F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGTAGATTCTCTAAAACTA	0.378																																					p.S1819F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5456T	18						.						55.0	58.0	57.0					18																	9258721		2203	4299	6502	9248721	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5456C>T	18.37:g.9258721C>T	ENSP00000262126:p.Ser1819Phe		9248721	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556385	0.86231	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.57595	0.39;0.39	5.33	5.33	0.75918	.	0.181703	0.49916	D	0.000136	T	0.64907	0.2641	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.67548	0.952;0.853	T	0.67425	-0.5674	10	0.87932	D	0	-8.9499	19.3868	0.94560	0.0:1.0:0.0:0.0	.	1796;1819	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	F	1796;1819	ENSP00000372932:S1796F;ENSP00000262126:S1819F	ENSP00000262126:S1819F	S	+	2	0	ANKRD12	9248721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.650000	0.89964	0.655000	0.94253	TCT		0.378	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9258888	9258888	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9258888C>A	ENST00000262126.4	+	9	5863	c.5623C>A	c.(5623-5625)Ctc>Atc	p.L1875I	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.L1852I|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L1852I	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1875						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1875I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CGGATCATATCTCCTGGATGG	0.368																																					p.L1875I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5623A	18						.						100.0	97.0	98.0					18																	9258888		2201	4299	6500	9248888	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5623C>A	18.37:g.9258888C>A	ENSP00000262126:p.Leu1875Ile		9248888	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455258	0.84209	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.70631	-0.5;-0.5	5.44	5.44	0.79542	.	0.072465	0.64402	D	0.000020	D	0.84302	0.5442	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	D	0.85196	0.1012	10	0.72032	D	0.01	-5.1253	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1852;1875	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1852;1875	ENSP00000372932:L1852I;ENSP00000262126:L1875I	ENSP00000262126:L1875I	L	+	1	0	ANKRD12	9248888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.781000	0.62389	2.707000	0.92482	0.655000	0.94253	CTC		0.368	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
TWSG1	57045	broad.mit.edu	37	18	9396447	9396447	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:9396447G>T	ENST00000262120.5	+	4	584	c.393G>T	c.(391-393)gaG>gaT	p.E131D	TWSG1_ENST00000581641.1_Missense_Mutation_p.E131D	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	131					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.E131E(1)|p.E131D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACATCATGAGAATCTGGTTT	0.448																																					p.E131D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G393T	18						.						107.0	102.0	104.0					18																	9396447		2203	4300	6503	9386447	SO:0001583	missense	57045	exon4			AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.393G>T	18.37:g.9396447G>T	ENSP00000262120:p.Glu131Asp		9386447	NM_020648	B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903746	0.52333	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	2.53	0.30540	.	0.045811	0.85682	D	0.000000	T	0.40815	0.1132	L	0.35414	1.06	0.51482	D	0.999925	P	0.43578	0.811	B	0.43575	0.424	T	0.10109	-1.0644	9	0.30854	T	0.27	-28.5239	8.7285	0.34485	0.2488:0.0:0.7512:0.0	.	131	Q9GZX9	TWSG1_HUMAN	D	131	.	ENSP00000262120:E131D	E	+	3	2	TWSG1	9386447	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.832000	0.39151	0.623000	0.30267	0.561000	0.74099	GAG		0.448	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2		
ADNP2	22850	broad.mit.edu	37	18	77896488	77896488	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:77896488G>T	ENST00000262198.4	+	4	3647	c.3192G>T	c.(3190-3192)aaG>aaT	p.K1064N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1064					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1064N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTTCCATAAGAAACCATATC	0.328																																					p.K1064N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3192T	18						.						47.0	52.0	50.0					18																	77896488		2200	4293	6493	75997479	SO:0001583	missense	22850	exon4			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.3192G>T	18.37:g.77896488G>T	ENSP00000262198:p.Lys1064Asn		75997479	NM_014913	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193764	0.58017	.	.	ENSG00000101544	ENST00000262198	D	0.92149	-2.98	4.75	3.86	0.44501	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.365576	0.26163	N	0.025974	D	0.90232	0.6946	L	0.59436	1.845	0.30825	N	0.737331	P	0.45474	0.859	P	0.45712	0.491	D	0.88415	0.3024	9	.	.	.	-23.2388	9.7748	0.40612	0.1582:0.0:0.8418:0.0	.	1064	Q6IQ32	ADNP2_HUMAN	N	1064	ENSP00000262198:K1064N	.	K	+	3	2	ADNP2	75997479	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.283000	0.58977	2.482000	0.83794	0.561000	0.74099	AAG		0.328	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
ATP2B2	491	broad.mit.edu	37	3	10429962	10429962	+	Splice_Site	DEL	T	T	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10429962delT	ENST00000352432.4	-	5	975	c.906delA	c.(904-906)aaa>aa	p.K302fs	ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000397077.1_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs|ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453																																					p.K302fs	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.906delA	3						.						283.0	257.0	266.0					3																	10429962		2203	4300	6503	10404962	SO:0001630	splice_region_variant	491	exon6			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.907+1A>-	3.37:g.10429962delT			10404962	NM_001683	O00766|Q12994|Q16818	Frame_Shift_Del	DEL	ENST00000352432.4	37	CCDS33701.1																																																																																				0.453	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Frame_Shift_Del
APPL1	26060	broad.mit.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcafs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299																																					p.S151fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.453delA	3						.						125.0	119.0	121.0					3																	57276921		2202	4300	6502	57251961	SO:0001589	frameshift_variant	26060	exon7			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.453delA	3.37:g.57276921delA	ENSP00000288266:p.Ser151fs		57251961	NM_012096	Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	CCDS2882.1																																																																																				0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
FANCD2	2177	broad.mit.edu	37	3	10094090	10094090	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10094090A>G	ENST00000419585.1	+	18	1726	c.1565A>G	c.(1564-1566)gAt>gGt	p.D522G	FANCD2_ENST00000383807.1_Missense_Mutation_p.D522G|FANCD2_ENST00000383806.1_Missense_Mutation_p.D522G|FANCD2_ENST00000287647.3_Missense_Mutation_p.D522G			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	522					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.D522G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATTATCTGGATAACATATCC	0.388			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.D522G		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1565G	3						.						71.0	69.0	70.0					3																	10094090		2203	4300	6503	10069090	SO:0001583	missense	2177	exon18	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1565A>G	3.37:g.10094090A>G	ENSP00000398754:p.Asp522Gly		10069090	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527288	0.85706	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.55	5.55	0.83447	.	0.284218	0.37483	N	0.002077	T	0.61048	0.2316	M	0.68952	2.095	0.42947	D	0.994367	D;D	0.57571	0.98;0.98	P;P	0.57324	0.818;0.818	T	0.62525	-0.6836	10	0.42905	T	0.14	.	13.791	0.63140	1.0:0.0:0.0:0.0	.	522;522	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	G	522	ENSP00000287647:D522G;ENSP00000373318:D522G;ENSP00000373317:D522G;ENSP00000398754:D522G	ENSP00000287647:D522G	D	+	2	0	FANCD2	10069090	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.043000	0.89432	2.148000	0.66965	0.524000	0.50904	GAT		0.388	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FANCD2	2177	broad.mit.edu	37	3	10115024	10115024	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10115024C>A	ENST00000419585.1	+	28	2854	c.2693C>A	c.(2692-2694)tCt>tAt	p.S898Y	FANCD2_ENST00000383807.1_Missense_Mutation_p.S898Y|FANCD2_ENST00000383806.1_Missense_Mutation_p.S898Y|FANCD2_ENST00000287647.3_Missense_Mutation_p.S898Y			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	898					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.S898Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCTACGCCATCTCATAGAGGC	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S898Y		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2693A	3						.						126.0	133.0	130.0					3																	10115024		2203	4300	6503	10090024	SO:0001583	missense	2177	exon28	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2693C>A	3.37:g.10115024C>A	ENSP00000398754:p.Ser898Tyr		10090024	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173362	0.38413	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.83	4.06	0.47325	.	0.862673	0.10622	N	0.653206	T	0.56171	0.1967	L	0.51422	1.61	0.09310	N	1	D;D	0.61080	0.979;0.989	P;P	0.56823	0.807;0.807	T	0.42172	-0.9467	10	0.59425	D	0.04	.	9.1004	0.36664	0.0:0.8328:0.0:0.1672	.	898;898	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	Y	898	ENSP00000287647:S898Y;ENSP00000373318:S898Y;ENSP00000373317:S898Y;ENSP00000398754:S898Y	ENSP00000287647:S898Y	S	+	2	0	FANCD2	10090024	0.003000	0.15002	0.005000	0.12908	0.260000	0.26232	1.014000	0.29950	0.840000	0.34995	-0.143000	0.13931	TCT		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FANCD2	2177	broad.mit.edu	37	3	10122847	10122847	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10122847C>A	ENST00000419585.1	+	31	3201	c.3040C>A	c.(3040-3042)Cat>Aat	p.H1014N	FANCD2_ENST00000383807.1_Missense_Mutation_p.H1014N|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1014N|FANCD2_ENST00000287647.3_Missense_Mutation_p.H1014N|FANCD2OS_ENST00000436517.1_5'Flank			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1014					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.H1014N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGAAATTGTTCATTGTGTTTT	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.H1014N		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3040A	3						.						122.0	127.0	125.0					3																	10122847		2203	4300	6503	10097847	SO:0001583	missense	2177	exon31	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3040C>A	3.37:g.10122847C>A	ENSP00000398754:p.His1014Asn		10097847	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439486	0.04636	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.94	3.17	0.36434	.	0.940887	0.09190	N	0.836156	T	0.39809	0.1092	L	0.51422	1.61	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.33523	-0.9865	10	0.17369	T	0.5	.	8.0253	0.30434	0.1358:0.7513:0.0:0.1128	.	1014;1014	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	N	1014	ENSP00000287647:H1014N;ENSP00000373318:H1014N;ENSP00000373317:H1014N;ENSP00000398754:H1014N	ENSP00000287647:H1014N	H	+	1	0	FANCD2	10097847	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.587000	0.05780	0.412000	0.25729	0.650000	0.86243	CAT		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
TBC1D23	55773	broad.mit.edu	37	3	100014147	100014147	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100014147G>T	ENST00000394144.4	+	7	734	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	TBC1D23_ENST00000475134.1_Splice_Site_p.E106*|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Splice_Site_p.E243*	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	243					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.E243*(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CTTTTACAGAGAAGTTATTTT	0.308																																					p.E243X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G727T	3						.						64.0	67.0	66.0					3																	100014147		2203	4298	6501	101496837	SO:0001630	splice_region_variant	55773	exon7			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.726-1G>T	3.37:g.100014147G>T			101496837	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Nonsense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074229	0.97262	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	.	.	.	5.8	5.8	0.92144	.	0.248415	0.46442	D	0.000292	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	.	.	.	X	243;243;106	.	.	E	+	1	0	TBC1D23	101496837	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.733000	0.93635	0.650000	0.86243	GAA		0.308	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	Nonsense_Mutation
VHL	7428	broad.mit.edu	37	3	10191563	10191563	+	Missense_Mutation	SNP	G	G	A	rs367545984		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10191563G>A	ENST00000256474.2	+	3	1396	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.E145K	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	186			E -> K (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|Missing (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E186*(3)|p.Y185_D187>*(1)|p.Y185fs*14(1)|p.E186fs*14(1)|p.Y185fs*11(1)|p.E186K(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCGCTCTACGAAGATCTGGA	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																												p.E145K		yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	VHL,kidney,NS,Substitution - Nonsense,0	.	8	Substitution - Nonsense(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)|large_intestine(1)	c.G433A	3	GRCh37	CM951297|CM951298	VHL	M		.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	78.0	71.0	73.0		556,433	5.0	1.0	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VHL	NM_000551.3,NM_198156.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	186/214,145/173	10191563	1,13005	2203	4300	6503	10166563	SO:0001583	missense	7428	exon2	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.556G>A	3.37:g.10191563G>A	ENSP00000256474:p.Glu186Lys		10166563	NM_198156	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753977	0.89843	0.0	1.16E-4	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99820	-6.93;-6.93	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	L	0.51422	1.61	0.49582	D	0.999806	D;D	0.76494	0.999;0.992	D;P	0.64042	0.921;0.691	D	0.97461	1.0034	10	0.49607	T	0.09	-10.1279	16.1249	0.81386	0.0:0.0:1.0:0.0	.	145;186	P40337-2;P40337	.;VHL_HUMAN	K	186;145;104	ENSP00000256474:E186K;ENSP00000344757:E145K	ENSP00000256474:E186K	E	+	1	0	VHL	10166563	1.000000	0.71417	0.978000	0.43139	0.578000	0.36192	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
NIT2	56954	broad.mit.edu	37	3	100064474	100064474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100064474G>T	ENST00000394140.4	+	5	473	c.382G>T	c.(382-384)Gaa>Taa	p.E128*		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	128	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.E128K(1)|p.E128*(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TACATTTCAAGAATCTAAAAC	0.388																																					p.E128X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G382T	3						.						115.0	108.0	110.0					3																	100064474		2203	4300	6503	101547164	SO:0001587	stop_gained	56954	exon5			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.382G>T	3.37:g.100064474G>T	ENSP00000377696:p.Glu128*		101547164	NM_020202	B2R9A3|D3DN47|Q8WUF0	Nonsense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.683630|4.683630	0.88639|0.88639	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76471	.|0.3992	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74380	.|-0.3684	.|3	0.87932|.	D|.	0|.	-16.4056|-16.4056	19.4938|19.4938	0.95064|0.95064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	128|221	.|.	ENSP00000377696:E128X|.	E|R	+|+	1|2	0|0	NIT2|NIT2	101547164|101547164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.802000|8.802000	0.91910|0.91910	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.388	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	
GPR128	84873	broad.mit.edu	37	3	100365565	100365565	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100365565A>C	ENST00000273352.3	+	10	1531	c.1263A>C	c.(1261-1263)ttA>ttC	p.L421F	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Missense_Mutation_p.L126F	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	421	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L421F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTGCTGTATTAATGGTAAGGA	0.408																																					p.L421F	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1263C	3						.						83.0	84.0	83.0					3																	100365565		2203	4300	6503	101848255	SO:0001583	missense	84873	exon10			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1263A>C	3.37:g.100365565A>C	ENSP00000273352:p.Leu421Phe		101848255	NM_032787	Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.453039	0.63290	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.75477	-0.94;-0.94	4.93	0.947	0.19555	GPS domain (3);	0.000000	0.45126	D	0.000385	D	0.83995	0.5375	M	0.85710	2.77	0.40377	D	0.979408	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.81295	-0.0997	10	0.51188	T	0.08	.	7.9533	0.30027	0.5425:0.0:0.4575:0.0	.	126;421	E9PHI0;Q96K78	.;GP128_HUMAN	F	421;126	ENSP00000273352:L421F;ENSP00000419788:L126F	ENSP00000273352:L421F	L	+	3	2	GPR128	101848255	0.779000	0.28652	0.992000	0.48379	0.975000	0.68041	-0.301000	0.08232	-0.019000	0.14055	0.533000	0.62120	TTA		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
IMPG2	50939	broad.mit.edu	37	3	100948233	100948233	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100948233A>C	ENST00000193391.7	-	17	3811	c.3624T>G	c.(3622-3624)ctT>ctG	p.L1208L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1208					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.L1208L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CCTCTCTGGAAAGCTCACTGC	0.542																																					p.L1208L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3624G	3						.						153.0	132.0	139.0					3																	100948233		2203	4300	6503	102430923	SO:0001819	synonymous_variant	50939	exon17			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3624T>G	3.37:g.100948233A>C			102430923	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.542	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
IMPG2	50939	broad.mit.edu	37	3	100963290	100963290	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100963290A>C	ENST00000193391.7	-	13	2072	c.1885T>G	c.(1885-1887)Tcc>Gcc	p.S629A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	629					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.S629A(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACGGCTTGGACAGTGGTTCA	0.433																																					p.S629A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1885G	3						.						122.0	115.0	118.0					3																	100963290		2203	4300	6503	102445980	SO:0001583	missense	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1885T>G	3.37:g.100963290A>C	ENSP00000193391:p.Ser629Ala		102445980	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	A	2.171	-0.389937	0.04932	.	.	ENSG00000081148	ENST00000193391	T	0.27256	1.68	5.87	0.379	0.16213	.	0.322330	0.28146	N	0.016432	T	0.13072	0.0317	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.14227	-1.0480	10	0.29301	T	0.29	-5.2157	0.7281	0.00952	0.4529:0.1382:0.1393:0.2696	.	629;629	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	A	629	ENSP00000193391:S629A	ENSP00000193391:S629A	S	-	1	0	IMPG2	102445980	0.904000	0.30761	0.093000	0.20910	0.004000	0.04260	0.982000	0.29539	0.079000	0.16929	-0.321000	0.08615	TCC		0.433	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
IMPG2	50939	broad.mit.edu	37	3	100992506	100992506	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:100992506A>C	ENST00000193391.7	-	7	934	c.747T>G	c.(745-747)ctT>ctG	p.L249L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	249	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.L249L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCTTCCCCAAAAGGTGGATAC	0.388																																					p.L249L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T747G	3						.						164.0	148.0	154.0					3																	100992506		2203	4300	6503	102475196	SO:0001819	synonymous_variant	50939	exon7			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.747T>G	3.37:g.100992506A>C			102475196	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.388	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
IMPG2	50939	broad.mit.edu	37	3	101038554	101038554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101038554C>A	ENST00000193391.7	-	2	395	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	70					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.E70*(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CTTTCAGTTTCTCTGCGGTCC	0.453																																					p.E70X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G208T	3						.						144.0	146.0	145.0					3																	101038554		2203	4300	6503	102521244	SO:0001587	stop_gained	50939	exon2			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.208G>T	3.37:g.101038554C>A	ENSP00000193391:p.Glu70*		102521244	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Nonsense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691199	0.88735	.	.	ENSG00000081148	ENST00000193391	.	.	.	5.64	2.46	0.29980	.	0.363225	0.26891	N	0.021973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-4.2426	10.598	0.45349	0.0:0.7639:0.0:0.2361	.	.	.	.	X	70	.	ENSP00000193391:E70X	E	-	1	0	IMPG2	102521244	0.971000	0.33674	0.120000	0.21714	0.450000	0.32258	1.591000	0.36665	0.755000	0.32990	0.563000	0.77884	GAA		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
SENP7	57337	broad.mit.edu	37	3	101049208	101049208	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101049208C>T	ENST00000394095.2	-	20	2774	c.2721G>A	c.(2719-2721)tcG>tcA	p.S907S	SENP7_ENST00000358203.3_Silent_p.S743S|SENP7_ENST00000314261.7_Silent_p.S841S|SENP7_ENST00000394094.2_Silent_p.S842S|SENP7_ENST00000394085.3_Silent_p.S95S|SENP7_ENST00000394091.1_Silent_p.S743S|SENP7_ENST00000348610.3_Silent_p.S874S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	907	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S841S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGACAGTGTCGAAGTAGTAC	0.308																																					p.S907S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2721A	3						.						102.0	99.0	100.0					3																	101049208		2203	4300	6503	102531898	SO:0001819	synonymous_variant	57337	exon20				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2721G>A	3.37:g.101049208C>T			102531898	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.308	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
SENP7	57337	broad.mit.edu	37	3	101056353	101056353	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101056353G>A	ENST00000394095.2	-	17	2533	c.2480C>T	c.(2479-2481)tCa>tTa	p.S827L	SENP7_ENST00000358203.3_Splice_Site_p.S663L|SENP7_ENST00000314261.7_Splice_Site_p.S761L|SENP7_ENST00000394094.2_Splice_Site_p.S762L|SENP7_ENST00000394091.1_Splice_Site_p.S663L|SENP7_ENST00000348610.3_Splice_Site_p.S794L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	827	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S761L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTAACTTACGAAAGATTTGG	0.299																																					p.S827L												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C2480T	3						.						44.0	46.0	45.0					3																	101056353		2201	4294	6495	102539043	SO:0001630	splice_region_variant	57337	exon17				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2480+1C>T	3.37:g.101056353G>A			102539043	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991348	0.93106	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.68	5.68	0.88126	.	0.227351	0.38272	N	0.001745	T	0.57021	0.2025	M	0.70595	2.14	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.926	D;D;D;P	0.87578	0.998;0.983;0.991;0.732	T	0.58730	-0.7585	10	0.87932	D	0	-7.7948	17.5732	0.87941	0.0:0.0:1.0:0.0	.	663;761;794;827	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	L	827;762;761;663;663;794	ENSP00000377655:S827L;ENSP00000377654:S762L;ENSP00000313624:S761L;ENSP00000377651:S663L;ENSP00000350936:S663L;ENSP00000342159:S794L	ENSP00000313624:S761L	S	-	2	0	SENP7	102539043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.319000	0.89992	2.674000	0.91012	0.655000	0.94253	TCA		0.299	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Missense_Mutation
SENP7	57337	broad.mit.edu	37	3	101062792	101062792	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101062792G>T	ENST00000394095.2	-	14	1897	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SENP7_ENST00000358203.3_Missense_Mutation_p.S451Y|SENP7_ENST00000314261.7_Missense_Mutation_p.S549Y|SENP7_ENST00000394094.2_Missense_Mutation_p.S550Y|SENP7_ENST00000394091.1_Missense_Mutation_p.S451Y|SENP7_ENST00000348610.3_Missense_Mutation_p.S582Y	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	615						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S549Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAATTCACTAGATTTTGCTAC	0.259																																					p.S615Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1844A	3						.						28.0	26.0	27.0					3																	101062792		2201	4299	6500	102545482	SO:0001583	missense	57337	exon14				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1844C>A	3.37:g.101062792G>T	ENSP00000377655:p.Ser615Tyr		102545482	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700219	0.48307	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.24723	1.84;1.86;1.86;1.86;1.86;1.84	4.72	3.84	0.44239	.	0.355317	0.24405	N	0.038807	T	0.32852	0.0843	L	0.27053	0.805	0.22489	N	0.999055	D;D;D;D	0.76494	0.996;0.998;0.999;0.999	D;D;D;P	0.68621	0.939;0.957;0.959;0.903	T	0.05533	-1.0879	10	0.72032	D	0.01	-0.0319	8.5211	0.33275	0.0876:0.1543:0.7581:0.0	.	451;549;582;615	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Y	615;550;549;451;451;582	ENSP00000377655:S615Y;ENSP00000377654:S550Y;ENSP00000313624:S549Y;ENSP00000377651:S451Y;ENSP00000350936:S451Y;ENSP00000342159:S582Y	ENSP00000313624:S549Y	S	-	2	0	SENP7	102545482	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	4.515000	0.60489	0.965000	0.38133	-0.157000	0.13467	TCT		0.259	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
SENP7	57337	broad.mit.edu	37	3	101085353	101085353	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101085353C>A	ENST00000394095.2	-	9	1292	c.1239G>T	c.(1237-1239)gaG>gaT	p.E413D	SENP7_ENST00000358203.3_Missense_Mutation_p.E249D|SENP7_ENST00000314261.7_Missense_Mutation_p.E347D|SENP7_ENST00000394094.2_Missense_Mutation_p.E348D|SENP7_ENST00000394091.1_Missense_Mutation_p.E249D|SENP7_ENST00000348610.3_Missense_Mutation_p.E380D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	413						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.E347D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAACTCATTCTCATCCTTCT	0.423																																					p.E413D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1239T	3						.						97.0	101.0	100.0					3																	101085353		2203	4300	6503	102568043	SO:0001583	missense	57337	exon9				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1239G>T	3.37:g.101085353C>A	ENSP00000377655:p.Glu413Asp		102568043	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	7.164	0.586306	0.13749	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.20200	2.09;2.12;2.12;2.12;2.12;2.09	5.13	2.13	0.27403	.	0.855264	0.10425	N	0.676183	T	0.22551	0.0544	L	0.56769	1.78	0.09310	N	1	P;P;P;P	0.44241	0.792;0.792;0.829;0.737	B;B;B;B	0.43445	0.254;0.342;0.42;0.24	T	0.11991	-1.0565	10	0.33141	T	0.24	-0.1136	6.8101	0.23799	0.0:0.5649:0.3419:0.0933	.	249;347;380;413	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	413;348;347;249;249;380	ENSP00000377655:E413D;ENSP00000377654:E348D;ENSP00000313624:E347D;ENSP00000377651:E249D;ENSP00000350936:E249D;ENSP00000342159:E380D	ENSP00000313624:E347D	E	-	3	2	SENP7	102568043	0.002000	0.14202	0.246000	0.24233	0.059000	0.15707	-0.176000	0.09811	0.833000	0.34828	0.643000	0.83706	GAG		0.423	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
TATDN2	9797	broad.mit.edu	37	3	10302249	10302249	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10302249G>T	ENST00000287652.4	+	3	1894	c.843G>T	c.(841-843)gaG>gaT	p.E281D	TATDN2_ENST00000448281.2_Missense_Mutation_p.E281D|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	281					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.E281D(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACCCTCAAGAGAAACCCAGTG	0.507																																					p.E281D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G843T	3						.						75.0	79.0	77.0					3																	10302249		2203	4300	6503	10277249	SO:0001583	missense	9797	exon3			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.843G>T	3.37:g.10302249G>T	ENSP00000287652:p.Glu281Asp		10277249	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036821	0.35893	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.24538	1.85;1.85	5.11	1.68	0.24146	.	0.000000	0.36519	N	0.002548	T	0.16471	0.0396	L	0.50333	1.59	0.09310	N	1	P	0.38922	0.651	B	0.35859	0.212	T	0.09058	-1.0692	10	0.31617	T	0.26	-2.5039	1.9117	0.03288	0.1345:0.1884:0.4831:0.194	.	281	Q93075	TATD2_HUMAN	D	281	ENSP00000287652:E281D;ENSP00000408736:E281D	ENSP00000287652:E281D	E	+	3	2	TATDN2	10277249	0.001000	0.12720	0.011000	0.14972	0.616000	0.37450	0.434000	0.21494	0.643000	0.30638	0.650000	0.86243	GAG		0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
SENP7	57337	broad.mit.edu	37	3	101086821	101086821	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101086821G>A	ENST00000394095.2	-	8	884	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SENP7_ENST00000358203.3_Silent_p.L113L|SENP7_ENST00000314261.7_Silent_p.L211L|SENP7_ENST00000394094.2_Silent_p.L212L|SENP7_ENST00000394091.1_Silent_p.L113L|SENP7_ENST00000348610.3_Silent_p.L244L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	277						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L211L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTCCTGTTCGAGATGATCAC	0.333																																					p.L277L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C831T	3						.						108.0	106.0	107.0					3																	101086821		2201	4299	6500	102569511	SO:0001819	synonymous_variant	57337	exon8				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.831C>T	3.37:g.101086821G>A			102569511	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
PCNP	57092	broad.mit.edu	37	3	101311594	101311594	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101311594T>G	ENST00000265260.3	+	5	655	c.534T>G	c.(532-534)aaT>aaG	p.N178K	PCNP_ENST00000469941.1_Missense_Mutation_p.N55K|PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000296024.5_3'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	178					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)		p.N178K(1)		large_intestine(1)|lung(1)	2						ACCAAGACAATTAAATGATGT	0.373																																					p.N178K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T534G	3						.						56.0	60.0	58.0					3																	101311594		2201	4300	6501	102794284	SO:0001583	missense	57092	exon5				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.534T>G	3.37:g.101311594T>G	ENSP00000265260:p.Asn178Lys		102794284	NM_020357	B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	ENST00000265260.3	37	CCDS2942.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714791	0.30413	.	.	ENSG00000081154	ENST00000265260	.	.	.	5.05	3.88	0.44766	.	0.145724	0.49305	D	0.000157	T	0.42517	0.1206	N	0.22421	0.69	0.80722	D	1	B	0.21905	0.062	B	0.17098	0.017	T	0.29549	-1.0008	9	0.59425	D	0.04	.	10.8915	0.46998	0.0:0.0751:0.0:0.9249	.	178	Q8WW12	PCNP_HUMAN	K	178	.	ENSP00000265260:N178K	N	+	3	2	PCNP	102794284	.	.	1.000000	0.80357	0.997000	0.91878	.	.	0.753000	0.32945	0.477000	0.44152	AAT		0.373	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353338.2	NM_020357	
ZBTB11	27107	broad.mit.edu	37	3	101370201	101370201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101370201C>A	ENST00000312938.4	-	11	3551	c.2971G>T	c.(2971-2973)Gaa>Taa	p.E991*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	991					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.E991*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCATAGTTTCTCCTGTCACT	0.433																																					p.E991X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2971T	3						.						178.0	150.0	159.0					3																	101370201		2203	4300	6503	102852891	SO:0001587	stop_gained	27107	exon11			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2971G>T	3.37:g.101370201C>A	ENSP00000326200:p.Glu991*		102852891	NM_014415	Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	45	11.922384	0.99617	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.39	5.39	0.77823	.	0.054796	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-21.9091	19.5182	0.95174	0.0:1.0:0.0:0.0	.	.	.	.	X	991	.	ENSP00000326200:E991X	E	-	1	0	ZBTB11	102852891	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.445000	0.80570	2.692000	0.91855	0.555000	0.69702	GAA		0.433	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
ZBTB11	27107	broad.mit.edu	37	3	101373592	101373592	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101373592C>A	ENST00000312938.4	-	8	2845	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	755					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.K755N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTTGGTGTTTCTTGAAGTGCT	0.378																																					p.K755N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2265T	3						.						113.0	116.0	115.0					3																	101373592		2203	4300	6503	102856282	SO:0001583	missense	27107	exon8			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2265G>T	3.37:g.101373592C>A	ENSP00000326200:p.Lys755Asn		102856282	NM_014415	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512834	0.85389	.	.	ENSG00000066422	ENST00000312938	T	0.12147	2.71	5.91	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046688	0.85682	D	0.000000	T	0.23289	0.0563	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02004	-1.1231	10	0.62326	D	0.03	-17.1721	11.8887	0.52616	0.0:0.8606:0.0:0.1394	.	755	O95625	ZBT11_HUMAN	N	755	ENSP00000326200:K755N	ENSP00000326200:K755N	K	-	3	2	ZBTB11	102856282	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.983000	0.49345	1.509000	0.48786	0.655000	0.94253	AAG		0.378	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
ZBTB11	27107	broad.mit.edu	37	3	101374975	101374975	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101374975G>T	ENST00000312938.4	-	7	2744	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	722					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.L722I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCTTGAAGACTCCGTTTG	0.308																																					p.L722I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2164A	3						.						68.0	63.0	65.0					3																	101374975		2203	4300	6503	102857665	SO:0001583	missense	27107	exon7			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2164C>A	3.37:g.101374975G>T	ENSP00000326200:p.Leu722Ile		102857665	NM_014415	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203643	0.58234	.	.	ENSG00000066422	ENST00000312938	T	0.53857	0.6	6.05	6.05	0.98169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.064020	0.64402	D	0.000003	T	0.80706	0.4674	H	0.95402	3.665	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	D	0.85369	0.1112	10	0.87932	D	0	-14.679	20.6013	0.99457	0.0:0.0:1.0:0.0	.	722	O95625	ZBT11_HUMAN	I	722	ENSP00000326200:L722I	ENSP00000326200:L722I	L	-	1	0	ZBTB11	102857665	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.368000	0.66133	2.878000	0.98634	0.650000	0.86243	CTT		0.308	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
NXPE3	91775	broad.mit.edu	37	3	101535699	101535699	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:101535699A>C	ENST00000491511.2	+	7	1939	c.983A>C	c.(982-984)aAa>aCa	p.K328T	NXPE3_ENST00000477909.1_Missense_Mutation_p.K328T|NXPE3_ENST00000273347.5_Missense_Mutation_p.K328T|NXPE3_ENST00000422132.1_Missense_Mutation_p.K328T	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	328						extracellular region (GO:0005576)		p.K328T(1)									TATTATTATAAAGACCAGTGG	0.358																																					p.K328T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A983C	3						.						81.0	84.0	83.0					3																	101535699		2203	4300	6503	103018389	SO:0001583	missense	91775	exon7			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.983A>C	3.37:g.101535699A>C	ENSP00000417485:p.Lys328Thr		103018389	NM_001134456	A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858520	0.51376	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.86	3.24	0.37175	.	0.509864	0.24525	N	0.037768	T	0.14184	0.0343	M	0.62723	1.935	0.32530	N	0.535114	B	0.12630	0.006	B	0.06405	0.002	T	0.12116	-1.0560	10	0.22706	T	0.39	-4.5844	10.2115	0.43143	0.8559:0.0:0.1441:0.0	.	328	Q969Y0	FA55C_HUMAN	T	328	ENSP00000273347:K328T;ENSP00000417485:K328T;ENSP00000418369:K328T;ENSP00000396421:K328T	ENSP00000273347:K328T	K	+	2	0	FAM55C	103018389	0.491000	0.26019	0.997000	0.53966	0.990000	0.78478	2.528000	0.45624	0.469000	0.27268	0.528000	0.53228	AAA		0.358	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
ZPLD1	131368	broad.mit.edu	37	3	102157429	102157429	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:102157429G>T	ENST00000491959.1	+	9	980	c.98G>T	c.(97-99)aGa>aTa	p.R33I	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R33I|ZPLD1_ENST00000306176.1_Missense_Mutation_p.R49I			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	33						integral component of membrane (GO:0016021)		p.R49I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCCACAGTAGATTTCCTGGT	0.418																																					p.R49I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G146T	3						.						91.0	83.0	86.0					3																	102157429		2203	4300	6503	103640119	SO:0001583	missense	131368	exon2			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.98G>T	3.37:g.102157429G>T	ENSP00000420265:p.Arg33Ile		103640119	NM_175056	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	24.5	4.537862	0.85917	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82803	-1.62;-1.65;-1.62	5.26	5.26	0.73747	.	0.111702	0.64402	D	0.000004	T	0.81288	0.4791	L	0.36672	1.1	0.80722	D	1	P;P	0.48640	0.649;0.913	B;P	0.46510	0.198;0.519	T	0.81037	-0.1114	10	0.38643	T	0.18	-15.3424	18.8682	0.92301	0.0:0.0:1.0:0.0	.	49;33	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	I	33;49;33	ENSP00000420265:R33I;ENSP00000307801:R49I;ENSP00000418253:R33I	ENSP00000307801:R49I	R	+	2	0	ZPLD1	103640119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.196000	0.89725	2.467000	0.83353	0.591000	0.81541	AGA		0.418	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
ATP2B2	491	broad.mit.edu	37	3	10443974	10443974	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:10443974G>A	ENST00000352432.4	-	3	525	c.456C>T	c.(454-456)atC>atT	p.I152I	ATP2B2_ENST00000360273.2_Silent_p.I152I|ATP2B2_ENST00000397077.1_Silent_p.I152I|ATP2B2_ENST00000383800.4_Silent_p.I152I|ATP2B2_ENST00000343816.4_Silent_p.I152I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	152					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.I152I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCCCCCTCGATCCAACCTG	0.587																																					p.I152I	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	3						.						75.0	85.0	82.0					3																	10443974		2203	4300	6503	10418974	SO:0001819	synonymous_variant	491	exon4			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.456C>T	3.37:g.10443974G>A			10418974	NM_001683	O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	CCDS33701.1																																																																																				0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
ZPLD1	131368	broad.mit.edu	37	3	102176650	102176650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:102176650G>T	ENST00000491959.1	+	12	1417	c.535G>T	c.(535-537)Gag>Tag	p.E179*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E179*|ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.E195*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	179	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.E195*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTGTGAGAGAGAACAATGG	0.378																																					p.E195X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G583T	3						.						252.0	231.0	238.0					3																	102176650		2203	4300	6503	103659340	SO:0001587	stop_gained	131368	exon5			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.535G>T	3.37:g.102176650G>T	ENSP00000420265:p.Glu179*		103659340	NM_175056	Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	38	6.954043	0.97960	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	4.99	4.99	0.66335	.	0.115142	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	4.4935	18.6514	0.91431	0.0:0.0:1.0:0.0	.	.	.	.	X	179;195;179	.	ENSP00000307801:E195X	E	+	1	0	ZPLD1	103659340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.480000	0.83734	0.591000	0.81541	GAG		0.378	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
BBX	56987	broad.mit.edu	37	3	107447682	107447682	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:107447682C>T	ENST00000325805.8	+	6	763	c.476C>T	c.(475-477)tCc>tTc	p.S159F	BBX_ENST00000415149.2_Missense_Mutation_p.S159F|BBX_ENST00000402543.1_Missense_Mutation_p.S159F|BBX_ENST00000406780.1_Missense_Mutation_p.S159F|BBX_ENST00000416476.2_Missense_Mutation_p.S159F			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	159					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S159F(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCTGTGAAATCCCCAACACCC	0.423																																					p.S159F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C476T	3						.						199.0	207.0	205.0					3																	107447682		2203	4300	6503	108930372	SO:0001583	missense	56987	exon6			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.476C>T	3.37:g.107447682C>T	ENSP00000319974:p.Ser159Phe		108930372	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915714	0.92178	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000449213;ENST00000429270	D;D;D;D;D;D;D;D;D;D	0.98762	-4.7;-4.71;-4.7;-5.12;-5.1;-5.1;-5.12;-4.7;-4.95;-4.66	6.02	6.02	0.97574	High mobility group, HMG1/HMG2 (1);	0.134990	0.64402	D	0.000002	D	0.98191	0.9402	N	0.24115	0.695	0.48975	D	0.999734	D;D;D;D	0.71674	0.987;0.996;0.994;0.998	P;P;P;D	0.63381	0.794;0.794;0.854;0.914	D	0.99818	1.1045	10	0.72032	D	0.01	-7.3028	20.5373	0.99239	0.0:1.0:0.0:0.0	.	159;159;159;159	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	F	159	ENSP00000408358:S159F;ENSP00000385317:S159F;ENSP00000319974:S159F;ENSP00000413320:S159F;ENSP00000403860:S159F;ENSP00000413274:S159F;ENSP00000385518:S159F;ENSP00000385530:S159F;ENSP00000407662:S159F;ENSP00000414673:S159F	ENSP00000319974:S159F	S	+	2	0	BBX	108930372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.678000	0.61641	2.857000	0.98124	0.650000	0.86243	TCC		0.423	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
BBX	56987	broad.mit.edu	37	3	107491949	107491949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:107491949C>T	ENST00000325805.8	+	11	1668	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	BBX_ENST00000415149.2_Nonsense_Mutation_p.R461*|BBX_ENST00000402543.1_Nonsense_Mutation_p.R461*|BBX_ENST00000406780.1_Nonsense_Mutation_p.R461*|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	461	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R461*(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAAATGGATCGACATGGAAA	0.403																																					p.R461X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1381T	3						.						57.0	60.0	59.0					3																	107491949		2203	4299	6502	108974639	SO:0001587	stop_gained	56987	exon11			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1381C>T	3.37:g.107491949C>T	ENSP00000319974:p.Arg461*		108974639	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	38	6.946164	0.97956	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	.	.	.	6.07	5.2	0.72013	.	0.601594	0.17783	N	0.162153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3842	16.9326	0.86195	0.1288:0.8712:0.0:0.0	.	.	.	.	X	461	.	ENSP00000319974:R461X	R	+	1	2	BBX	108974639	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.162000	0.42367	1.573000	0.49748	0.585000	0.79938	CGA		0.403	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
BBX	56987	broad.mit.edu	37	3	107492287	107492287	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:107492287A>G	ENST00000325805.8	+	11	2006	c.1719A>G	c.(1717-1719)aaA>aaG	p.K573K	BBX_ENST00000415149.2_Silent_p.K573K|BBX_ENST00000402543.1_Silent_p.K573K|BBX_ENST00000406780.1_Silent_p.K573K|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	573					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K573K(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGGGTATAAAAGCAGAACCAT	0.458																																					p.K573K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1719G	3						.						95.0	91.0	92.0					3																	107492287		2203	4300	6503	108974977	SO:0001819	synonymous_variant	56987	exon11			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1719A>G	3.37:g.107492287A>G			108974977	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	CCDS46881.1																																																																																				0.458	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
HHLA2	11148	broad.mit.edu	37	3	108076869	108076869	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108076869C>A	ENST00000357759.5	+	6	1278	c.864C>A	c.(862-864)ttC>ttA	p.F288L	HHLA2_ENST00000491820.1_Missense_Mutation_p.F288L|HHLA2_ENST00000467761.1_Missense_Mutation_p.F288L|HHLA2_ENST00000467562.1_Missense_Mutation_p.F224L|HHLA2_ENST00000489514.2_Missense_Mutation_p.F288L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	288	Ig-like V-type 2.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)		p.F288L(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AATCCCGATTCTCATGGAACA	0.378																																					p.F288L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C864A	3						.						154.0	149.0	151.0					3																	108076869		1845	4097	5942	109559559	SO:0001583	missense	11148	exon6			AF126162	CCDS46883.1, CCDS63713.1, CCDS74975.1	3q13.13	2013-01-11			ENSG00000114455	ENSG00000114455		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	4905	protein-coding gene	gene with protein product		604371				10444326	Standard	NM_007072		Approved	B7H7	uc003dwz.3	Q9UM44	OTTHUMG00000159224	ENST00000357759.5:c.864C>A	3.37:g.108076869C>A	ENSP00000350402:p.Phe288Leu		109559559	NM_007072	B4DKN2|D3DN60|Q9NWQ6	Missense_Mutation	SNP	ENST00000357759.5	37	CCDS46883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.171|3.171	-0.169929|-0.169929	0.06461|0.06461	.|.	.|.	ENSG00000114455|ENSG00000114455	ENST00000491820;ENST00000467562;ENST00000357759;ENST00000467761;ENST00000489514|ENST00000482099	T;T;T;T;T|.	0.70045|.	-0.45;-0.45;-0.45;-0.45;-0.45|.	5.31|5.31	0.916|0.916	0.19373|0.19373	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.944627|.	0.08658|.	N|.	0.912941|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17465|.	0.022;0.022;0.022|.	B;B;B|.	0.23716|.	0.048;0.048;0.048|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.27785|.	T|.	0.31|.	-14.9994|-14.9994	3.6021|3.6021	0.08028|0.08028	0.2043:0.5439:0.1466:0.1052|0.2043:0.5439:0.1466:0.1052	.|.	224;288;288|.	B4DKN2;C9J7D0;Q9UM44|.	.;.;HHLA2_HUMAN|.	L|I	288;224;288;288;288|191	ENSP00000418284:F288L;ENSP00000418345:F224L;ENSP00000350402:F288L;ENSP00000419207:F288L;ENSP00000417856:F288L|.	ENSP00000350402:F288L|.	F|L	+|+	3|1	2|0	HHLA2|HHLA2	109559559|109559559	0.924000|0.924000	0.31332|0.31332	0.003000|0.003000	0.11579|0.11579	0.043000|0.043000	0.13939|0.13939	0.259000|0.259000	0.18405|0.18405	-0.080000|-0.080000	0.12685|0.12685	-0.182000|-0.182000	0.12963|0.12963	TTC|CTC		0.378	HHLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353924.1	NM_007072	
MYH15	22989	broad.mit.edu	37	3	108112896	108112896	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108112896G>T	ENST00000273353.3	-	37	5357	c.5301C>A	c.(5299-5301)gcC>gcA	p.A1767A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1767						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1767A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGCCTTCTTGGCCTTCTCTT	0.567																																					p.A1767A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5301A	3						.						116.0	122.0	120.0					3																	108112896		2045	4205	6250	109595586	SO:0001819	synonymous_variant	22989	exon37			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5301C>A	3.37:g.108112896G>T			109595586	NM_014981		Silent	SNP	ENST00000273353.3	37	CCDS43127.1																																																																																				0.567	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108112977	108112977	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108112977C>A	ENST00000273353.3	-	37	5276	c.5220G>T	c.(5218-5220)aaG>aaT	p.K1740N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1740						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1740N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTCCAGTTTCTTCTTCTGGC	0.478																																					p.K1740N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5220T	3						.						93.0	95.0	94.0					3																	108112977		1978	4168	6146	109595667	SO:0001583	missense	22989	exon37			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5220G>T	3.37:g.108112977C>A	ENSP00000273353:p.Lys1740Asn		109595667	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.764993	0.69878	.	.	ENSG00000144821	ENST00000273353	D	0.85629	-2.01	5.7	3.89	0.44902	Myosin tail (1);	.	.	.	.	D	0.91382	0.7281	M	0.77406	2.37	0.46279	D	0.998967	D	0.76494	0.999	D	0.83275	0.996	D	0.92145	0.5723	9	0.87932	D	0	.	12.3321	0.55046	0.0:0.8615:0.0:0.1385	.	1740	Q9Y2K3	MYH15_HUMAN	N	1740	ENSP00000273353:K1740N	ENSP00000273353:K1740N	K	-	3	2	MYH15	109595667	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	2.907000	0.48743	1.400000	0.46741	0.650000	0.86243	AAG		0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108147716	108147716	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108147716C>A	ENST00000273353.3	-	28	3441	c.3385G>T	c.(3385-3387)Gat>Tat	p.D1129Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1129						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1129Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTTTCAAATCCTTTATTTGA	0.388																																					p.D1129Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3385T	3						.						88.0	83.0	85.0					3																	108147716		1854	4089	5943	109630406	SO:0001583	missense	22989	exon28			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3385G>T	3.37:g.108147716C>A	ENSP00000273353:p.Asp1129Tyr		109630406	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745796	0.30955	.	.	ENSG00000144821	ENST00000273353	T	0.79653	-1.29	5.72	0.585	0.17428	Myosin tail (1);	.	.	.	.	T	0.73140	0.3549	L	0.29908	0.895	0.29966	N	0.819009	P	0.41232	0.743	P	0.47891	0.56	T	0.67681	-0.5608	9	0.87932	D	0	.	4.3178	0.11002	0.116:0.5029:0.2509:0.1303	.	1129	Q9Y2K3	MYH15_HUMAN	Y	1129	ENSP00000273353:D1129Y	ENSP00000273353:D1129Y	D	-	1	0	MYH15	109630406	0.801000	0.28930	0.089000	0.20774	0.118000	0.20060	1.463000	0.35277	-0.113000	0.11958	-0.142000	0.14014	GAT		0.388	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
MYH15	22989	broad.mit.edu	37	3	108211371	108211371	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108211371G>T	ENST00000273353.3	-	10	963	c.907C>A	c.(907-909)Cta>Ata	p.L303I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	303	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L303I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGTCCAGATAGAATTTGATAG	0.368																																					p.L303I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907A	3						.						101.0	93.0	95.0					3																	108211371		1820	4084	5904	109694061	SO:0001583	missense	22989	exon10			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.907C>A	3.37:g.108211371G>T	ENSP00000273353:p.Leu303Ile		109694061	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803114	0.50315	.	.	ENSG00000144821	ENST00000273353	D	0.91351	-2.83	4.89	0.723	0.18231	Myosin head, motor domain (2);	.	.	.	.	D	0.91549	0.7331	M	0.65320	2	0.09310	N	1	P	0.51791	0.948	P	0.59012	0.85	T	0.82055	-0.0647	9	0.59425	D	0.04	.	5.4756	0.16694	0.16:0.0:0.3518:0.4882	.	303	Q9Y2K3	MYH15_HUMAN	I	303	ENSP00000273353:L303I	ENSP00000273353:L303I	L	-	1	2	MYH15	109694061	1.000000	0.71417	0.879000	0.34478	0.840000	0.47671	0.869000	0.27996	0.413000	0.25759	0.650000	0.86243	CTA		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
KIAA1524	57650	broad.mit.edu	37	3	108298222	108298222	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108298222G>A	ENST00000295746.8	-	7	800	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L83F|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	242					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L242F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGTTTATGAGAATATTAAAT	0.323																																					p.L242F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	3						.						76.0	85.0	82.0					3																	108298222		2203	4299	6502	109780912	SO:0001583	missense	57650	exon7			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.724C>T	3.37:g.108298222G>A	ENSP00000295746:p.Leu242Phe		109780912	NM_020890	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744561	0.69418	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.64438	-0.1;0.63	5.07	5.07	0.68467	Armadillo-type fold (1);	0.187520	0.48767	D	0.000163	T	0.73992	0.3658	L	0.54323	1.7	0.44523	D	0.997473	D	0.76494	0.999	D	0.67382	0.951	T	0.76307	-0.3007	10	0.72032	D	0.01	-4.3667	15.4498	0.75265	0.0:0.1487:0.8512:0.0	.	242	Q8TCG1	CIP2A_HUMAN	F	83;242	ENSP00000419487:L83F;ENSP00000295746:L242F	ENSP00000295746:L242F	L	-	1	0	KIAA1524	109780912	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.572000	0.67411	2.528000	0.85240	0.650000	0.86243	CTC		0.323	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
KIAA1524	57650	broad.mit.edu	37	3	108301905	108301905	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108301905A>G	ENST00000295746.8	-	3	352	c.276T>C	c.(274-276)tgT>tgC	p.C92C	KIAA1524_ENST00000491772.1_5'UTR|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	92					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C92C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATTCTGAAGACAATCTCTGG	0.363																																					p.C92C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T276C	3						.						57.0	58.0	57.0					3																	108301905		2203	4300	6503	109784595	SO:0001819	synonymous_variant	57650	exon3			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.276T>C	3.37:g.108301905A>G			109784595	NM_020890	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	ENST00000295746.8	37	CCDS33812.1																																																																																				0.363	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108381086G>A	ENST00000361582.3	+	21	2635	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_ENST00000463306.1_Missense_Mutation_p.G802E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	802					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G802E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333																																					p.G802E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2405A	3						.						50.0	51.0	50.0					3																	108381086		2202	4300	6502	109863776	SO:0001583	missense	9666	exon21			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2405G>A	3.37:g.108381086G>A	ENSP00000355028:p.Gly802Glu		109863776	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659901	0.67586	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.83419	-1.72;-1.72	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000085	D	0.86760	0.6010	L	0.47716	1.5	0.40099	D	0.976346	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83365	0.0004	10	0.20519	T	0.43	-18.2322	13.8682	0.63600	0.0:0.0:1.0:0.0	.	420;802	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	802	ENSP00000355028:G802E;ENSP00000419981:G802E	ENSP00000355028:G802E	G	+	2	0	DZIP3	109863776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.235000	0.58666	2.644000	0.89710	0.563000	0.77884	GGA		0.333	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
TRAT1	50852	broad.mit.edu	37	3	108572699	108572699	+	Missense_Mutation	SNP	G	G	A	rs79029897	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108572699G>A	ENST00000295756.6	+	6	766	c.536G>A	c.(535-537)cGt>cAt	p.R179H	TRAT1_ENST00000426646.1_Missense_Mutation_p.R142H	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	179					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R179H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGATTGATCCGTGCTAAGAGA	0.428																																					p.R179H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G536A	3						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	113.0	112.0		536	2.6	1.0	3	dbSNP_133	112	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TRAT1	NM_016388.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging	179/187	108572699	4,13002	2203	4300	6503	110055389	SO:0001583	missense	50852	exon6			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.536G>A	3.37:g.108572699G>A	ENSP00000295756:p.Arg179His		110055389	NM_016388	Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527449	0.44969	2.27E-4	3.49E-4	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.31247	1.5;1.5	5.85	2.57	0.30868	.	0.303423	0.29080	N	0.013212	T	0.21590	0.0520	L	0.45137	1.4	0.32587	N	0.527755	B;B	0.27416	0.178;0.178	B;B	0.22880	0.042;0.025	T	0.16630	-1.0396	10	0.46703	T	0.11	-24.9599	5.7256	0.18010	0.3991:0.0:0.6009:0.0	.	142;179	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	H	179;142	ENSP00000295756:R179H;ENSP00000410097:R142H	ENSP00000295756:R179H	R	+	2	0	TRAT1	110055389	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	1.510000	0.35790	0.748000	0.32831	-0.345000	0.07892	CGT		0.428	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
MORC1	27136	broad.mit.edu	37	3	108682426	108682426	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108682426T>G	ENST00000483760.1	-	26	2614	c.2571A>C	c.(2569-2571)gaA>gaC	p.E857D	MORC1_ENST00000232603.5_Missense_Mutation_p.E878D					MORC family CW-type zinc finger 1									p.E878D(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTATTTTTTTTTCATATTGGA	0.279																																					p.E878D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2634C	3						.						64.0	66.0	66.0					3																	108682426		2201	4296	6497	110165116	SO:0001583	missense	27136	exon27			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2571A>C	3.37:g.108682426T>G	ENSP00000417282:p.Glu857Asp		110165116	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	T	16.41	3.116311	0.56505	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.18174	2.23;2.25	4.9	1.12	0.20585	.	0.149455	0.31156	N	0.008150	T	0.13798	0.0334	L	0.34521	1.04	0.29779	N	0.834181	P;P	0.50819	0.939;0.939	P;B	0.46362	0.514;0.396	T	0.09357	-1.0678	10	0.72032	D	0.01	-18.3506	6.1715	0.20421	0.0:0.3836:0.0:0.6164	.	857;878	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	878;857	ENSP00000232603:E878D;ENSP00000417282:E857D	ENSP00000232603:E878D	E	-	3	2	MORC1	110165116	0.981000	0.34729	0.990000	0.47175	0.798000	0.45092	-0.143000	0.10296	0.039000	0.15632	0.402000	0.26972	GAA		0.279	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
MORC1	27136	broad.mit.edu	37	3	108723729	108723729	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108723729G>T	ENST00000483760.1	-	19	2000	c.1957C>A	c.(1957-1959)Cag>Aag	p.Q653K	MORC1_ENST00000232603.5_Missense_Mutation_p.Q674K					MORC family CW-type zinc finger 1									p.Q674K(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTAGCAATCTGACTTCTCTTT	0.363																																					p.Q674K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2020A	3						.						131.0	146.0	141.0					3																	108723729		2203	4300	6503	110206419	SO:0001583	missense	27136	exon20			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1957C>A	3.37:g.108723729G>T	ENSP00000417282:p.Gln653Lys		110206419	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	G	0.185	-1.059006	0.01950	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05649	3.41;3.59	4.04	-0.627	0.11541	.	2.237700	0.02786	U	0.121471	T	0.03348	0.0097	N	0.12182	0.205	0.09310	N	1	B;B	0.29037	0.231;0.231	B;B	0.24006	0.037;0.05	T	0.33777	-0.9855	10	0.05833	T	0.94	23.2857	6.8844	0.24191	0.5857:0.0:0.4143:0.0	.	653;674	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	674;653	ENSP00000232603:Q674K;ENSP00000417282:Q653K	ENSP00000232603:Q674K	Q	-	1	0	MORC1	110206419	0.002000	0.14202	0.006000	0.13384	0.171000	0.22731	0.212000	0.17497	-0.118000	0.11851	0.460000	0.39030	CAG		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
SLC6A1	6529	broad.mit.edu	37	3	11059551	11059551	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:11059551C>A	ENST00000287766.4	+	4	682	c.261C>A	c.(259-261)ttC>ttA	p.F87L	SLC6A1_ENST00000462473.1_3'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	87					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F87L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCCCCTATTTCCTGACACTCA	0.597																																					p.F87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C261A	3						.						99.0	101.0	100.0					3																	11059551		2203	4300	6503	11034551	SO:0001583	missense	6529	exon4				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.261C>A	3.37:g.11059551C>A	ENSP00000287766:p.Phe87Leu		11034551	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901795	0.33535	.	.	ENSG00000157103	ENST00000287766	T	0.70631	-0.5	4.07	4.07	0.47477	.	0.065555	0.64402	D	0.000010	T	0.61048	0.2316	N	0.17764	0.52	0.80722	D	1	D	0.64830	0.994	P	0.54965	0.765	T	0.57653	-0.7774	10	0.06625	T	0.88	.	10.4974	0.44785	0.0:0.9102:0.0:0.0898	.	87	P30531	SC6A1_HUMAN	L	87	ENSP00000287766:F87L	ENSP00000287766:F87L	F	+	3	2	SLC6A1	11034551	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.935000	0.48963	2.273000	0.75805	0.563000	0.77884	TTC		0.597	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
MORC1	27136	broad.mit.edu	37	3	108776277	108776277	+	Missense_Mutation	SNP	C	C	T	rs201598350		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:108776277C>T	ENST00000483760.1	-	13	1131	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	MORC1_ENST00000232603.5_Missense_Mutation_p.R363Q					MORC family CW-type zinc finger 1									p.R363Q(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGCTTGGCTTCGGTTTTCTAC	0.338																																					p.R363Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088A	3						.						127.0	120.0	122.0					3																	108776277		2203	4300	6503	110258967	SO:0001583	missense	27136	exon13			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1088G>A	3.37:g.108776277C>T	ENSP00000417282:p.Arg363Gln		110258967	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	c	17.70	3.453494	0.63290	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09073	3.02;3.05	4.6	-1.71	0.08133	.	1.156520	0.06730	N	0.776524	T	0.09949	0.0244	M	0.77820	2.39	0.21105	N	0.999781	P;B	0.36438	0.553;0.034	B;B	0.27887	0.084;0.032	T	0.23368	-1.0190	10	0.52906	T	0.07	-3.0E-4	5.9135	0.19041	0.0:0.4795:0.1279:0.3925	.	363;363	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	363	ENSP00000232603:R363Q;ENSP00000417282:R363Q	ENSP00000232603:R363Q	R	-	2	0	MORC1	110258967	0.732000	0.28121	0.953000	0.39169	0.954000	0.61252	-0.229000	0.09098	-0.651000	0.05415	-0.127000	0.14921	CGA		0.338	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
PHLDB2	90102	broad.mit.edu	37	3	111693274	111693274	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111693274C>A	ENST00000431670.2	+	18	4037	c.3626C>A	c.(3625-3627)cCt>cAt	p.P1209H	PHLDB2_ENST00000481953.1_Missense_Mutation_p.P1166H|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P1166H|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P1209H|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P1193H|PHLDB2_ENST00000495180.1_Missense_Mutation_p.P700H	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.P1166H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTTTAGAGTCCTAATCCGTTA	0.338																																					p.P1209H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3626A	3						.						69.0	70.0	70.0					3																	111693274		2203	4300	6503	113175964	SO:0001583	missense	90102	exon18				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3626C>A	3.37:g.111693274C>A	ENSP00000405405:p.Pro1209His		113175964	NM_001134439	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766242	0.49574	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	6.17	5.27	0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.964;0.975;1.0;1.0	D	0.87186	0.2231	10	0.87932	D	0	.	16.638	0.85064	0.0:0.8706:0.1294:0.0	.	321;700;1209;1166;1193	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	H	1193;1209;1166;1209;1166;700	ENSP00000377500:P1193H;ENSP00000405405:P1209H;ENSP00000405292:P1166H;ENSP00000377502:P1209H;ENSP00000418319:P1166H;ENSP00000420303:P700H	ENSP00000377500:P1193H	P	+	2	0	PHLDB2	113175964	1.000000	0.71417	0.986000	0.45419	0.113000	0.19764	6.079000	0.71291	2.941000	0.99782	0.655000	0.94253	CCT		0.338	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
TMPRSS7	344805	broad.mit.edu	37	3	111766737	111766737	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111766737C>T	ENST00000452346.2	+	7	885	c.882C>T	c.(880-882)atC>atT	p.I294I	TMPRSS7_ENST00000419127.1_Silent_p.I168I			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	294	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.I23I(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCAAATCGAAGCCGACA	0.522																																					p.I168I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	3						.						104.0	107.0	106.0					3																	111766737		2099	4221	6320	113249427	SO:0001819	synonymous_variant	344805	exon5			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.882C>T	3.37:g.111766737C>T			113249427	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37																																																																																					0.522	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
TMPRSS7	344805	broad.mit.edu	37	3	111769544	111769544	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111769544G>T	ENST00000452346.2	+	9	1120	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D247Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	373	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D102Y(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGGTCAAAGACATCACTGG	0.398																																					p.D247Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739T	3						.						224.0	208.0	213.0					3																	111769544		1867	4098	5965	113252234	SO:0001583	missense	344805	exon7			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1117G>T	3.37:g.111769544G>T	ENSP00000398236:p.Asp373Tyr		113252234	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	G	16.61	3.170789	0.57584	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89681	-2.55;-2.53	4.86	4.86	0.63082	CUB (3);	0.233970	0.35349	N	0.003261	T	0.81950	0.4931	N	0.19112	0.55	0.33172	D	0.548408	P;P	0.43938	0.822;0.504	B;B	0.41174	0.349;0.237	D	0.85683	0.1302	10	0.33141	T	0.24	.	15.2533	0.73564	0.0:0.0:1.0:0.0	.	373;247	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	373;361;347;247	ENSP00000398236:D373Y;ENSP00000411645:D247Y	ENSP00000411645:D247Y	D	+	1	0	TMPRSS7	113252234	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.311000	0.72835	2.404000	0.81709	0.460000	0.39030	GAC		0.398	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
SLC9C1	285335	broad.mit.edu	37	3	111887880	111887880	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111887880G>T	ENST00000305815.5	-	25	3333	c.3081C>A	c.(3079-3081)ctC>ctA	p.L1027L	SLC9C1_ENST00000487372.1_Silent_p.L979L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1027					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.L1027L(1)									AAATATTAGAGAGCTTTAGTT	0.279																																					p.L1027L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3081A	3						.						74.0	82.0	79.0					3																	111887880		2202	4294	6496	113370570	SO:0001819	synonymous_variant	285335	exon25			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3081C>A	3.37:g.111887880G>T			113370570	NM_183061	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																				0.279	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C1	285335	broad.mit.edu	37	3	111918263	111918263	+	Nonsense_Mutation	SNP	C	C	A	rs371139214		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111918263C>A	ENST00000305815.5	-	20	2680	c.2428G>T	c.(2428-2430)Gaa>Taa	p.E810*	SLC9C1_ENST00000487372.1_Nonsense_Mutation_p.E762*	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	810					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.E810*(1)									ACATTAATTTCTTCCTTTGTT	0.289																																					p.E810X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2428T	3						.	C	stop/GLU	1,4401	2.1+/-5.4	0,1,2200	75.0	78.0	77.0		2428	1.5	0.5	3		77	0,8596		0,0,4298	no	stop-gained	SLC9A10	NM_183061.1		0,1,6498	AA,AC,CC		0.0,0.0227,0.0077		810/1178	111918263	1,12997	2201	4298	6499	113400953	SO:0001587	stop_gained	285335	exon20			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2428G>T	3.37:g.111918263C>A	ENSP00000306627:p.Glu810*		113400953	NM_183061	Q6ZRP4|Q7RTP2	Nonsense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	36	5.816894	0.96982	2.27E-4	0.0	ENSG00000172139	ENST00000305815;ENST00000487372	.	.	.	5.55	1.49	0.22878	.	0.353337	0.23883	N	0.043632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.5832	0.45267	0.1295:0.3276:0.5429:0.0	.	.	.	.	X	810;762	.	ENSP00000306627:E810X	E	-	1	0	SLC9A10	113400953	0.554000	0.26522	0.517000	0.27799	0.085000	0.17905	0.518000	0.22847	-0.040000	0.13580	-0.152000	0.13540	GAA		0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C1	285335	broad.mit.edu	37	3	111923176	111923176	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111923176G>T	ENST00000305815.5	-	17	2313	c.2061C>A	c.(2059-2061)atC>atA	p.I687I	SLC9C1_ENST00000487372.1_Silent_p.I639I	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	687					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.I687I(1)									TTACATGTAAGATGCCAATTA	0.284																																					p.I687I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2061A	3						.						112.0	113.0	113.0					3																	111923176		2201	4295	6496	113405866	SO:0001819	synonymous_variant	285335	exon17			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2061C>A	3.37:g.111923176G>T			113405866	NM_183061	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																				0.284	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C1	285335	broad.mit.edu	37	3	111958848	111958848	+	Missense_Mutation	SNP	G	G	A	rs186081653		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111958848G>A	ENST00000305815.5	-	12	1537	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R381C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	429					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R429C(1)									GTGGCATCACGAAGACCTTTG	0.338													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18721	0.0		0.0	False		,,,				2504	0.0				p.R429C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1285T	3						.	G	CYS/ARG	0,4406		0,0,2203	92.0	82.0	86.0		1285	4.6	1.0	3		86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC9A10	NM_183061.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	429/1178	111958848	1,13005	2203	4300	6503	113441538	SO:0001583	missense	285335	exon12			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1285C>T	3.37:g.111958848G>A	ENSP00000306627:p.Arg429Cys		113441538	NM_183061	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.78	2.933481	0.52866	0.0	1.16E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77750	-1.12;-1.06	5.48	4.61	0.57282	.	0.206543	0.34853	N	0.003623	T	0.79155	0.4398	L	0.32530	0.975	0.42552	D	0.993117	B;D	0.89917	0.08;1.0	B;D	0.63957	0.014;0.92	T	0.79237	-0.1886	10	0.49607	T	0.09	-7.2332	10.1891	0.43015	0.0918:0.0:0.9082:0.0	.	381;429	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	429;381	ENSP00000306627:R429C;ENSP00000420688:R381C	ENSP00000306627:R429C	R	-	1	0	SLC9A10	113441538	0.970000	0.33590	0.973000	0.42090	0.764000	0.43329	2.416000	0.44644	1.313000	0.45069	0.511000	0.50034	CGT		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
CD200	4345	broad.mit.edu	37	3	112068612	112068612	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112068612C>T	ENST00000315711.8	+	5	805	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	CD200_ENST00000383681.3_Missense_Mutation_p.L176F|CD200_ENST00000473539.1_Missense_Mutation_p.L275F	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	250					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L275F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GGTAATTCTTCTCGTCCTAAT	0.378																																					p.L250F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748T	3						.						122.0	110.0	114.0					3																	112068612		2203	4300	6503	113551302	SO:0001583	missense	4345	exon5				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000315711.8:c.748C>T	3.37:g.112068612C>T	ENSP00000312766:p.Leu250Phe		113551302	NM_005944	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000315711.8	37	CCDS2965.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043866	0.75732	.	.	ENSG00000091972	ENST00000315711;ENST00000473539;ENST00000383681	T;T;T	0.76968	0.54;-1.06;-0.93	5.22	5.22	0.72569	.	0.168545	0.28448	N	0.015314	T	0.81039	0.4740	L	0.27053	0.805	0.44570	D	0.997536	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.999	D;D;D;D;D	0.83275	0.946;0.996;0.991;0.996;0.996	T	0.82259	-0.0546	10	0.62326	D	0.03	-11.5884	14.1585	0.65432	0.0:1.0:0.0:0.0	.	250;176;176;250;275	P41217;F8W7G1;B4DDZ6;P41217-2;P41217-3	OX2G_HUMAN;.;.;.;.	F	250;275;176	ENSP00000312766:L250F;ENSP00000420298:L275F;ENSP00000373179:L176F	ENSP00000312766:L250F	L	+	1	0	CD200	113551302	0.998000	0.40836	1.000000	0.80357	0.756000	0.42949	1.315000	0.33608	2.696000	0.92011	0.655000	0.94253	CTC		0.378	CD200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354078.1		
ATG3	64422	broad.mit.edu	37	3	112256665	112256665	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112256665A>C	ENST00000283290.5	-	9	1017	c.583T>G	c.(583-585)Ttg>Gtg	p.L195V	ATG3_ENST00000402314.2_Missense_Mutation_p.L195V|ATG3_ENST00000495756.1_5'UTR	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	195					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.L195V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGGTTTGCAAAATAGCATCT	0.343																																					p.L195V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T583G	3						.						111.0	105.0	107.0					3																	112256665		2203	4300	6503	113739355	SO:0001583	missense	64422	exon9				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.583T>G	3.37:g.112256665A>C	ENSP00000283290:p.Leu195Val		113739355	NM_022488	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.639033	0.47153	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.72	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.49455	1.56	0.58432	D	0.999998	B;B	0.25312	0.044;0.123	B;B	0.29862	0.034;0.108	T	0.35226	-0.9797	9	0.21540	T	0.41	-1.9076	8.1486	0.31126	0.8004:0.0:0.1996:0.0	.	195;195	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	V	195	.	ENSP00000283290:L195V	L	-	1	2	ATG3	113739355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.932000	0.56537	0.942000	0.37525	0.533000	0.62120	TTG		0.343	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488	
SLC35A5	55032	broad.mit.edu	37	3	112299629	112299629	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112299629G>T	ENST00000492406.1	+	6	948	c.665G>T	c.(664-666)aGa>aTa	p.R222I	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	222					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)	p.R222I(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						ACCACAGCCAGAGTTTTCAGT	0.393																																					p.R222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665T	3						.						138.0	130.0	133.0					3																	112299629		2203	4300	6503	113782319	SO:0001583	missense	55032	exon6			AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.665G>T	3.37:g.112299629G>T	ENSP00000417654:p.Arg222Ile		113782319	NM_017945	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	G	9.728	1.161600	0.21538	.	.	ENSG00000138459	ENST00000492406	T	0.45276	0.9	5.76	3.01	0.34805	.	0.526178	0.23187	N	0.050942	T	0.29423	0.0733	L	0.38531	1.155	0.26699	N	0.971206	B	0.21688	0.059	B	0.18871	0.023	T	0.16867	-1.0388	9	.	.	.	-0.4977	8.63	0.33913	0.0687:0.0:0.6588:0.2725	.	222	Q9BS91	S35A5_HUMAN	I	222	ENSP00000417654:R222I	.	R	+	2	0	SLC35A5	113782319	0.201000	0.23410	0.557000	0.28306	0.466000	0.32739	0.840000	0.27600	0.366000	0.24427	-0.926000	0.02714	AGA		0.393	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945	
CCDC80	151887	broad.mit.edu	37	3	112358377	112358377	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112358377G>A	ENST00000206423.3	-	2	1329	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	CCDC80_ENST00000439685.2_Missense_Mutation_p.R126W|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	126					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R126W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATTCTTGACCGAGCTGAGGAC	0.592																																					p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	3						.						91.0	86.0	88.0					3																	112358377		2203	4300	6503	113841067	SO:0001583	missense	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.376C>T	3.37:g.112358377G>A	ENSP00000206423:p.Arg126Trp		113841067	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553486	0.65425	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.55930	0.49;0.49	5.35	4.46	0.54185	.	0.114198	0.56097	D	0.000022	T	0.60157	0.2247	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.66196	0.942;0.94;0.877	T	0.64943	-0.6288	10	0.66056	D	0.02	-22.1387	15.4872	0.75575	0.0:0.0:0.8605:0.1395	.	137;126;126	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	W	126	ENSP00000206423:R126W;ENSP00000411814:R126W	ENSP00000206423:R126W	R	-	1	2	CCDC80	113841067	1.000000	0.71417	0.882000	0.34594	0.779000	0.44077	3.582000	0.53921	1.462000	0.47948	0.650000	0.86243	CGG		0.592	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CD200R1	131450	broad.mit.edu	37	3	112647875	112647875	+	Missense_Mutation	SNP	C	C	A	rs200448544		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112647875C>A	ENST00000471858.1	-	4	720	c.488G>T	c.(487-489)aGa>aTa	p.R163I	CD200R1_ENST00000295863.4_Missense_Mutation_p.R141I|CD200R1_ENST00000308611.3_Missense_Mutation_p.R186I|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000490004.1_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	163	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R186I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TACTGCAGTTCTATTCCTGTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20343	0.001		0.0	False		,,,				2504	0.0				p.R163I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488T	3						.						76.0	69.0	71.0					3																	112647875		2203	4300	6503	114130565	SO:0001583	missense	131450	exon4			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.488G>T	3.37:g.112647875C>A	ENSP00000418928:p.Arg163Ile		114130565	NM_170780	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.01	2.110691	0.37242	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863	T;T;T	0.39229	1.09;1.09;2.81	5.43	1.63	0.23807	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.655787	0.15363	N	0.266299	T	0.31199	0.0789	N	0.11756	0.17	0.09310	N	1	B;P;P	0.51791	0.003;0.948;0.936	B;P;P	0.52267	0.01;0.694;0.568	T	0.11012	-1.0605	10	0.30854	T	0.27	.	8.2317	0.31601	0.0:0.6739:0.0:0.3261	.	141;163;186	B4E2U2;Q8TD46;Q8TD46-4	.;MO2R1_HUMAN;.	I	163;186;141	ENSP00000418928:R163I;ENSP00000311035:R186I;ENSP00000295863:R141I	ENSP00000295863:R141I	R	-	2	0	CD200R1	114130565	0.000000	0.05858	0.190000	0.23270	0.104000	0.19210	0.421000	0.21280	0.671000	0.31185	0.650000	0.86243	AGA		0.468	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
CD200R1	131450	broad.mit.edu	37	3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I|CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	6					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R6I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTAGCAGTTCTCCAAGGGCA	0.468																																					p.R6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17T	3						.						213.0	183.0	193.0					3																	112693688		2203	4300	6503	114176378	SO:0001583	missense	131450	exon1			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.17G>T	3.37:g.112693688C>A	ENSP00000418928:p.Arg6Ile		114176378	NM_138939	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467398	0.63625	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.27557	2.17;2.26;1.92;1.66;1.72	5.66	3.46	0.39613	.	0.626729	0.13915	N	0.353946	T	0.23572	0.0570	L	0.41824	1.3	0.32706	N	0.512178	B;P;P;B;B	0.44380	0.121;0.713;0.834;0.261;0.379	B;B;B;B;B	0.41666	0.021;0.234;0.363;0.052;0.111	T	0.34104	-0.9842	10	0.51188	T	0.08	.	4.397	0.11367	0.2371:0.6287:0.0:0.1342	.	6;6;6;6;6	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	6	ENSP00000418928:R6I;ENSP00000311035:R6I;ENSP00000295863:R6I;ENSP00000405733:R6I;ENSP00000418801:R6I	ENSP00000295863:R6I	R	-	2	0	CD200R1	114176378	0.939000	0.31865	0.930000	0.37139	0.998000	0.95712	1.543000	0.36147	1.501000	0.48654	0.655000	0.94253	AGA		0.468	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
GTPBP8	29083	broad.mit.edu	37	3	112718376	112718376	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:112718376A>G	ENST00000383678.2	+	5	832	c.750A>G	c.(748-750)aaA>aaG	p.K250K	GTPBP8_ENST00000383677.3_Silent_p.K217K|GTPBP8_ENST00000467752.1_Silent_p.K139K|GTPBP8_ENST00000473129.1_Silent_p.K100K	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	250	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.K250K(1)		kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						TTAACATGAAAACTCAAGGAT	0.289																																					p.K250K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A750G	3						.						102.0	103.0	103.0					3																	112718376		2202	4299	6501	114201066	SO:0001819	synonymous_variant	29083	exon5			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.750A>G	3.37:g.112718376A>G			114201066	NM_014170	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Silent	SNP	ENST00000383678.2	37	CCDS33820.1																																																																																				0.289	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170	
BOC	91653	broad.mit.edu	37	3	113005605	113005605	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113005605C>A	ENST00000495514.1	+	20	3945	c.3241C>A	c.(3241-3243)Ccc>Acc	p.P1081T	BOC_ENST00000355385.3_Missense_Mutation_p.P1081T|BOC_ENST00000273395.4_Missense_Mutation_p.P1082T			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1081					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P1081T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGACTGGTGTCCCCAGCACCC	0.597																																					p.P1081T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3241A	3						.						134.0	145.0	142.0					3																	113005605		2203	4300	6503	114488295	SO:0001583	missense	91653	exon20			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3241C>A	3.37:g.113005605C>A	ENSP00000418663:p.Pro1081Thr		114488295	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272913	0.40194	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60424	0.19;0.19;0.19	5.51	2.63	0.31362	.	0.218916	0.37219	N	0.002181	T	0.40119	0.1104	L	0.27053	0.805	0.24527	N	0.994131	B;B	0.26845	0.161;0.1	B;B	0.27380	0.079;0.036	T	0.23691	-1.0181	10	0.38643	T	0.18	.	7.2639	0.26219	0.0:0.597:0.2547:0.1483	.	1082;1081	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	T	1081;1082;1081	ENSP00000418663:P1081T;ENSP00000273395:P1082T;ENSP00000347546:P1081T	ENSP00000273395:P1082T	P	+	1	0	BOC	114488295	0.942000	0.31987	0.993000	0.49108	0.951000	0.60555	0.155000	0.16362	0.377000	0.24735	-0.305000	0.09177	CCC		0.597	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
CFAP44	55779	broad.mit.edu	37	3	113115488	113115488	+	Silent	SNP	C	C	T	rs377529770		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113115488C>T	ENST00000295868.2	-	14	1818	c.1656G>A	c.(1654-1656)acG>acA	p.T552T	WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000393845.2_Silent_p.T552T	NM_018338.3	NP_060808.2												p.T552T(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCGCAAAAATCGTGAGCCCTT	0.383																																					p.T552T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1656A	3						.	C	,	0,4406		0,0,2203	96.0	98.0	97.0		1656,1656	-3.4	0.0	3		97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR52	NM_001164496.1,NM_018338.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	552/1855,552/983	113115488	1,13005	2203	4300	6503	114598178	SO:0001819	synonymous_variant	55779	exon14																														ENST00000295868.2:c.1656G>A	3.37:g.113115488C>T			114598178	NM_001164496		Silent	SNP	ENST00000295868.2	37	CCDS2972.1																																																																																				0.383	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
SPICE1	152185	broad.mit.edu	37	3	113169309	113169309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113169309C>A	ENST00000295872.4	-	15	2456	c.2197G>T	c.(2197-2199)Gaa>Taa	p.E733*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	733					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.E733*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CGATTCAATTCTGCAATCCGT	0.398																																					p.E733X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2197T	3						.						118.0	111.0	113.0					3																	113169309		2203	4300	6503	114651999	SO:0001587	stop_gained	152185	exon15			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2197G>T	3.37:g.113169309C>A	ENSP00000295872:p.Glu733*		114651999	NM_144718	D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.453131	0.98817	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.3703	16.3533	0.83225	0.0:1.0:0.0:0.0	.	.	.	.	X	733	.	ENSP00000295872:E733X	E	-	1	0	SPICE1	114651999	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.264000	0.58859	2.660000	0.90430	0.557000	0.71058	GAA		0.398	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
SPICE1	152185	broad.mit.edu	37	3	113172461	113172461	+	Missense_Mutation	SNP	C	C	A	rs562601249		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113172461C>A	ENST00000295872.4	-	14	2253	c.1994G>T	c.(1993-1995)aGa>aTa	p.R665I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	665					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.R665I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TATGTCCTTTCTTTGTATTAA	0.428																																					p.R665I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1994T	3						.						154.0	153.0	153.0					3																	113172461		2203	4300	6503	114655151	SO:0001583	missense	152185	exon14			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1994G>T	3.37:g.113172461C>A	ENSP00000295872:p.Arg665Ile		114655151	NM_144718	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805333	0.70682	.	.	ENSG00000163611	ENST00000295872	T	0.32515	1.45	5.64	4.76	0.60689	.	0.210360	0.49916	D	0.000139	T	0.43500	0.1250	L	0.57536	1.79	0.48830	D	0.999713	D;P	0.58268	0.982;0.899	P;P	0.55455	0.776;0.667	T	0.32295	-0.9912	10	0.62326	D	0.03	-17.6482	12.2638	0.54665	0.0:0.9181:0.0:0.0819	.	561;665	B3KX77;Q8N0Z3	.;SPICE_HUMAN	I	665	ENSP00000295872:R665I	ENSP00000295872:R665I	R	-	2	0	SPICE1	114655151	0.996000	0.38824	1.000000	0.80357	0.932000	0.56968	1.006000	0.29847	2.654000	0.90174	0.563000	0.77884	AGA		0.428	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
SPICE1	152185	broad.mit.edu	37	3	113212951	113212951	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113212951C>A	ENST00000295872.4	-	5	589	c.330G>T	c.(328-330)gaG>gaT	p.E110D		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	110					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.E110D(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GATCAGATTTCTCCAACACAT	0.338																																					p.E110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	3						.						94.0	90.0	92.0					3																	113212951		2203	4300	6503	114695641	SO:0001583	missense	152185	exon5			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.330G>T	3.37:g.113212951C>A	ENSP00000295872:p.Glu110Asp		114695641	NM_144718	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596723	0.46318	.	.	ENSG00000163611	ENST00000295872;ENST00000495812;ENST00000480527	T	0.35973	1.28	5.18	3.04	0.35103	.	0.179163	0.49305	D	0.000155	T	0.51991	0.1707	M	0.71581	2.175	0.30915	N	0.728665	D;P	0.67145	0.996;0.899	D;B	0.75484	0.986;0.397	T	0.54503	-0.8284	10	0.52906	T	0.07	-8.4697	5.6061	0.17381	0.0:0.3708:0.0:0.6292	.	6;110	B3KX77;Q8N0Z3	.;SPICE_HUMAN	D	110	ENSP00000295872:E110D	ENSP00000295872:E110D	E	-	3	2	SPICE1	114695641	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.504000	0.22626	0.514000	0.28300	0.585000	0.79938	GAG		0.338	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
KIAA2018	205717	broad.mit.edu	37	3	113379177	113379177	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113379177G>T	ENST00000478658.1	-	5	1369	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S451Y			Q68DE3	K2018_HUMAN	KIAA2018	451						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S451Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CACAGCAGAAGATGGTGTCTG	0.443																																					p.S451Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1352A	3						.						67.0	71.0	70.0					3																	113379177		2008	4182	6190	114861867	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1352C>A	3.37:g.113379177G>T	ENSP00000420721:p.Ser451Tyr		114861867	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885871	0.51908	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17213	2.29;2.29	5.31	5.31	0.75309	.	0.589490	0.17491	N	0.172355	T	0.24890	0.0604	L	0.32530	0.975	0.44985	D	0.998008	D	0.53885	0.963	P	0.50490	0.642	T	0.01729	-1.1286	10	0.72032	D	0.01	-8.7574	18.9748	0.92731	0.0:0.0:1.0:0.0	.	451	Q68DE3	K2018_HUMAN	Y	451	ENSP00000320794:S451Y;ENSP00000420721:S451Y	ENSP00000320794:S451Y	S	-	2	0	KIAA2018	114861867	0.988000	0.35896	0.936000	0.37596	0.713000	0.41058	5.301000	0.65727	2.487000	0.83934	0.557000	0.71058	TCT		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
ATP6V1A	523	broad.mit.edu	37	3	113517215	113517215	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113517215C>T	ENST00000273398.3	+	12	1524	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	ATP6V1A_ENST00000538620.1_Silent_p.F439F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	472					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.F472F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TCACAGAGTTCGTTCCTCTGA	0.438																																					p.F472F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	3						.						148.0	137.0	141.0					3																	113517215		2203	4300	6503	114999905	SO:0001819	synonymous_variant	523	exon12			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1416C>T	3.37:g.113517215C>T			114999905	NM_001690	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	CCDS2976.1																																																																																				0.438	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690	
GRAMD1C	54762	broad.mit.edu	37	3	113601612	113601612	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113601612C>A	ENST00000358160.4	+	6	965	c.473C>A	c.(472-474)tCt>tAt	p.S158Y	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	158						integral component of membrane (GO:0016021)		p.S158Y(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTCTTCACATCTTTTGGTGCC	0.348																																					p.S158Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473A	3						.						173.0	176.0	175.0					3																	113601612		2203	4300	6503	115084302	SO:0001583	missense	54762	exon6				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.473C>A	3.37:g.113601612C>A	ENSP00000350881:p.Ser158Tyr		115084302	NM_017577	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977280	0.74360	.	.	ENSG00000178075	ENST00000358160	T	0.41758	0.99	5.52	4.64	0.57946	.	0.741502	0.13340	N	0.395245	T	0.50582	0.1624	M	0.87381	2.88	0.80722	D	1	B	0.30664	0.289	B	0.26517	0.07	T	0.55483	-0.8134	10	0.87932	D	0	.	13.4347	0.61077	0.1582:0.8418:0.0:0.0	.	158	Q8IYS0	GRM1C_HUMAN	Y	158	ENSP00000350881:S158Y	ENSP00000350881:S158Y	S	+	2	0	GRAMD1C	115084302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.287000	0.78681	1.300000	0.44818	0.643000	0.83706	TCT		0.348	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
ZDHHC23	254887	broad.mit.edu	37	3	113667698	113667698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113667698G>T	ENST00000330212.3	+	2	348	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RP11-255E6.6_ENST00000609657.1_RNA|ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.E11*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	17					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.E17*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GAAAACCGAAGAACCTGAATT	0.478																																					p.E17X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G49T	3						.						164.0	161.0	162.0					3																	113667698		2203	4300	6503	115150388	SO:0001587	stop_gained	254887	exon2			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.49G>T	3.37:g.113667698G>T	ENSP00000330485:p.Glu17*		115150388	NM_173570	D3DN76	Nonsense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834381	0.97873	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	.	.	.	5.38	3.6	0.41247	.	0.573004	0.18306	N	0.145255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-10.9486	9.2199	0.37370	0.1707:0.0:0.8293:0.0	.	.	.	.	X	17;11;17	.	ENSP00000330485:E17X	E	+	1	0	ZDHHC23	115150388	0.614000	0.27017	0.899000	0.35326	0.951000	0.60555	2.734000	0.47368	0.658000	0.30925	0.591000	0.81541	GAA		0.478	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570	
ZDHHC23	254887	broad.mit.edu	37	3	113673114	113673114	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113673114G>T	ENST00000330212.3	+	3	1028	c.729G>T	c.(727-729)aaG>aaT	p.K243N	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.K237N	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	243					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K243N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGACCCCAAGGGCTCTTCCA	0.602																																					p.K243N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G729T	3						.						68.0	67.0	67.0					3																	113673114		2203	4300	6503	115155804	SO:0001583	missense	254887	exon3			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.729G>T	3.37:g.113673114G>T	ENSP00000330485:p.Lys243Asn		115155804	NM_173570	D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032730	0.07543	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.25414	1.8;1.8	5.11	4.24	0.50183	.	0.676707	0.14914	N	0.291068	T	0.18215	0.0437	L	0.29908	0.895	0.09310	N	1	B	0.32010	0.351	B	0.31495	0.131	T	0.15037	-1.0451	10	0.22706	T	0.39	-12.9346	10.4658	0.44607	0.1696:0.0:0.8304:0.0	.	243	Q8IYP9	ZDH23_HUMAN	N	243;237	ENSP00000330485:K243N;ENSP00000417840:K237N	ENSP00000330485:K243N	K	+	3	2	ZDHHC23	115155804	1.000000	0.71417	0.059000	0.19551	0.055000	0.15305	3.622000	0.54217	1.375000	0.46248	0.561000	0.74099	AAG		0.602	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570	
KIAA1407	57577	broad.mit.edu	37	3	113737676	113737676	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113737676G>T	ENST00000295878.3	-	8	1158	c.1012C>A	c.(1012-1014)Ctt>Att	p.L338I	KIAA1407_ENST00000545063.1_Missense_Mutation_p.L169I	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	338								p.L338I(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTATGATCAAGAATCAGCTTG	0.473																																					p.L338I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1012A	3						.						220.0	224.0	223.0					3																	113737676		2203	4300	6503	115220366	SO:0001583	missense	57577	exon8			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1012C>A	3.37:g.113737676G>T	ENSP00000295878:p.Leu338Ile		115220366	NM_020817	B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974628	0.53720	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.54675	1.21;0.56;0.59	5.76	3.6	0.41247	.	0.144448	0.47455	D	0.000221	T	0.47911	0.1471	M	0.66939	2.045	0.80722	D	1	B;P;B	0.40211	0.36;0.707;0.36	B;B;B	0.36244	0.22;0.22;0.22	T	0.51679	-0.8675	10	0.41790	T	0.15	.	11.6437	0.51249	0.0739:0.0:0.7995:0.1266	.	325;214;338	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	I	338;169;325	ENSP00000295878:L338I;ENSP00000446381:L169I;ENSP00000418099:L325I	ENSP00000295878:L338I	L	-	1	0	KIAA1407	115220366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.882000	0.39648	1.399000	0.46721	0.655000	0.94253	CTT		0.473	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
DRD3	1814	broad.mit.edu	37	3	113858437	113858437	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113858437G>A	ENST00000460779.1	-	6	922	c.633C>T	c.(631-633)atC>atT	p.I211I	DRD3_ENST00000467632.1_Silent_p.I211I|DRD3_ENST00000295881.7_Silent_p.I211I|DRD3_ENST00000383673.2_Silent_p.I211I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	211					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.I211I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCACCACATAGATTCTGGCAT	0.507																																					p.I211I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	3						.						193.0	184.0	187.0					3																	113858437		2203	4300	6503	115341127	SO:0001819	synonymous_variant	1814	exon5				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.633C>T	3.37:g.113858437G>A			115341127	NM_033663	A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	CCDS2978.1																																																																																				0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	
ZNF80	7634	broad.mit.edu	37	3	113955221	113955221	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:113955221C>T	ENST00000482457.2	-	1	1204	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	234					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.R234Q(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCTTGTATGTCGAGTGAGGGA	0.463																																					p.R234Q	GBM(23;986 1114 21716)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	3						.						106.0	105.0	106.0					3																	113955221		2203	4300	6503	115437911	SO:0001583	missense	7634	exon1			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.701G>A	3.37:g.113955221C>T	ENSP00000417192:p.Arg234Gln		115437911	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.665248	0.00765	.	.	ENSG00000174255	ENST00000482457	T	0.26223	1.75	3.07	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	N	0.16708	0.43	0.09310	N	1	B	0.28880	0.226	B	0.25140	0.058	T	0.32107	-0.9919	9	0.05620	T	0.96	.	2.014	0.03494	0.1305:0.2732:0.1271:0.4693	.	234	P51504	ZNF80_HUMAN	Q	234	ENSP00000417192:R234Q	ENSP00000309812:R234Q	R	-	2	0	ZNF80	115437911	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-6.229000	0.00075	-1.222000	0.02587	-2.844000	0.00104	CGA		0.463	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:114070695C>T	ENST00000474710.1	-	4	408	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20_ENST00000462705.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R4H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R4H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R4H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	77						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R4H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGTGAATGCGCTCGGTCAT	0.537																																					p.R4H	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11A	3						.						75.0	76.0	76.0					3																	114070695		2202	4298	6500	115553385	SO:0001583	missense	26137	exon11			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.230G>A	3.37:g.114070695C>T	ENSP00000419153:p.Arg77His		115553385	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893482	0.91889	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.46819	2.67;2.67;2.67;2.67;2.78;2.67;2.67;0.86	6.1	6.1	0.99115	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.65249	-0.6214	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	77	Q9HC78	ZBT20_HUMAN	H	4;4;4;4;77;4;4;4	ENSP00000420324:R4H;ENSP00000377375:R4H;ENSP00000418092:R4H;ENSP00000419902:R4H;ENSP00000419153:R77H;ENSP00000349803:R4H;ENSP00000417307:R4H;ENSP00000420684:R4H	ENSP00000349803:R4H	R	-	2	0	ZBTB20	115553385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	CGC		0.537	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
TAMM41	132001	broad.mit.edu	37	3	11885644	11885644	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:11885644G>A	ENST00000444133.2	-	2	319	c.177C>T	c.(175-177)gtC>gtT	p.V59V	TAMM41_ENST00000455809.1_Silent_p.V59V|TAMM41_ENST00000273037.5_Silent_p.V59V			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	59					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.V59V(1)									AATGCCATGCGACAGGGTCAT	0.403																																					p.V59V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	3						.						72.0	71.0	72.0					3																	11885644		2203	4300	6503	11860644	SO:0001819	synonymous_variant	132001	exon2				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.177C>T	3.37:g.11885644G>A			11860644	NM_138807	B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37																																																																																					0.403	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807	
GAP43	2596	broad.mit.edu	37	3	115395334	115395334	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:115395334G>A	ENST00000305124.6	+	2	871	c.505G>A	c.(505-507)Gat>Aat	p.D169N	GAP43_ENST00000393780.3_Missense_Mutation_p.D205N	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	169					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D205Y(1)|p.D169Y(1)|p.D169N(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		TAAACAAGCCGATGTGCctgc	0.607																																					p.D205N												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G613A	3						.						30.0	30.0	30.0					3																	115395334		2195	4290	6485	116878024	SO:0001583	missense	2596	exon3				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.505G>A	3.37:g.115395334G>A	ENSP00000305010:p.Asp169Asn		116878024	NM_001130064	A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143388	0.94560	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.52057	0.68;0.68	5.45	5.45	0.79879	Neuromodulin (GAP-43), C-terminal (1);	0.097702	0.64402	D	0.000002	T	0.69124	0.3076	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70132	-0.4956	10	0.72032	D	0.01	-16.7246	19.4735	0.94973	0.0:0.0:1.0:0.0	.	205;169	A8K0Y4;P17677	.;NEUM_HUMAN	N	169;205	ENSP00000305010:D169N;ENSP00000377372:D205N	ENSP00000305010:D169N	D	+	1	0	GAP43	116878024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.176000	0.94839	2.836000	0.97738	0.655000	0.94253	GAT		0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045	
ARHGAP31	57514	broad.mit.edu	37	3	119102036	119102036	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119102036C>A	ENST00000264245.4	+	6	1177	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	215	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.I215I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGATCAAATCTTTAACAACG	0.473																																					p.I215I	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645A	3						.						139.0	138.0	138.0					3																	119102036		2024	4182	6206	120584726	SO:0001819	synonymous_variant	57514	exon6				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.645C>A	3.37:g.119102036C>A			120584726	NM_020754	Q9ULL6	Silent	SNP	ENST00000264245.4	37	CCDS43135.1																																																																																				0.473	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
POGLUT1	56983	broad.mit.edu	37	3	119205758	119205758	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119205758C>T	ENST00000295588.4	+	7	801	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	239					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)	p.N239N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ACACCAAAAACCAGGCCTGGA	0.408																																					p.N239N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	3						.						134.0	136.0	135.0					3																	119205758		2203	4300	6503	120688448	SO:0001819	synonymous_variant	56983	exon7			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.717C>T	3.37:g.119205758C>T			120688448	NM_152305	B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	ENST00000295588.4	37	CCDS2988.1																																																																																				0.408	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305	
CD80	941	broad.mit.edu	37	3	119263605	119263605	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119263605C>A	ENST00000264246.3	-	3	572	c.210G>T	c.(208-210)aaG>aaT	p.K70N	CD80_ENST00000383669.3_Missense_Mutation_p.K70N|CD80_ENST00000478182.1_Missense_Mutation_p.K70N|CD80_ENST00000383668.3_Missense_Mutation_p.K70N	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	70	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.K70N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GCACCATTTTCTTCTCCTTTT	0.458																																					p.K70N	Melanoma(132;135 1764 1806 5833 14593)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	3						.						181.0	156.0	164.0					3																	119263605		2203	4300	6503	120746295	SO:0001583	missense	941	exon3				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.210G>T	3.37:g.119263605C>A	ENSP00000264246:p.Lys70Asn		120746295	NM_005191	Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	3.258	-0.151817	0.06585	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.13	-10.3	0.00346	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.319310	0.00824	N	0.001601	T	0.19208	0.0461	N	0.16656	0.425	0.09310	N	1	B;B;B;B	0.13145	0.006;0.004;0.007;0.007	B;B;B;B	0.14023	0.006;0.005;0.01;0.01	T	0.15065	-1.0450	10	0.19147	T	0.46	0.0323	2.4939	0.04617	0.1217:0.2711:0.3466:0.2605	.	70;70;70;70	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	N	70	ENSP00000264246:K70N;ENSP00000418364:K70N;ENSP00000373165:K70N;ENSP00000373164:K70N	ENSP00000264246:K70N	K	-	3	2	CD80	120746295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.536000	0.00940	-3.115000	0.00240	-0.995000	0.02519	AAG		0.458	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191	
POPDC2	64091	broad.mit.edu	37	3	119367498	119367498	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119367498C>A	ENST00000264231.3	-	3	784	c.618G>T	c.(616-618)gaG>gaT	p.E206D	POPDC2_ENST00000493094.1_Missense_Mutation_p.E206D|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.E206D|POPDC2_ENST00000538678.1_Missense_Mutation_p.E206D	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	206					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)	p.E206D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		TACATGAGGTCTCAGCAGTCA	0.473																																					p.E206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G618T	3						.						37.0	40.0	39.0					3																	119367498		2202	4299	6501	120850188	SO:0001583	missense	64091	exon3			AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.618G>T	3.37:g.119367498C>A	ENSP00000264231:p.Glu206Asp		120850188	NM_022135	Q86UE7	Missense_Mutation	SNP	ENST00000264231.3	37	CCDS2992.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693811	0.48202	.	.	ENSG00000121577	ENST00000264231;ENST00000493094;ENST00000468801;ENST00000538678	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.94	4.94	0.65067	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.051780	0.85682	D	0.000000	T	0.34513	0.0900	N	0.21448	0.665	0.49389	D	0.999785	P;P	0.52692	0.88;0.955	P;P	0.58013	0.526;0.831	T	0.02365	-1.1170	10	0.27785	T	0.31	.	13.73	0.62781	0.0:0.9235:0.0:0.0765	.	206;206	Q9HBU9-2;Q9HBU9	.;POPD2_HUMAN	D	206	ENSP00000264231:E206D;ENSP00000417250:E206D;ENSP00000420715:E206D;ENSP00000438271:E206D	ENSP00000264231:E206D	E	-	3	2	POPDC2	120850188	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.487000	0.45268	2.557000	0.86248	0.462000	0.41574	GAG		0.473	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135	
MAATS1	89876	broad.mit.edu	37	3	119456231	119456231	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119456231A>C	ENST00000273390.5	+	11	1440	c.1363A>C	c.(1363-1365)Aat>Cat	p.N455H		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)		p.N455H(1)									GGATAAGAAGAATAAAGTTCT	0.348																																					p.N455H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1363C	3						.						62.0	65.0	64.0					3																	119456231		2203	4300	6503	120938921	SO:0001583	missense	89876	exon11			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1363A>C	3.37:g.119456231A>C	ENSP00000273390:p.Asn455His		120938921	NM_033364	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	5.618	0.298761	0.10622	.	.	ENSG00000183833	ENST00000273390	T	0.23348	1.91	4.74	3.53	0.40419	.	0.680535	0.15571	N	0.255433	T	0.24547	0.0595	N	0.22421	0.69	0.80722	D	1	B;B;D;P	0.59767	0.043;0.043;0.986;0.899	B;B;P;P	0.51135	0.011;0.011;0.66;0.568	T	0.01319	-1.1386	10	0.37606	T	0.19	-3.2453	10.8379	0.46698	0.8584:0.0:0.0:0.1416	.	216;393;455;455	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	H	455	ENSP00000273390:N455H	ENSP00000273390:N455H	N	+	1	0	C3orf15	120938921	1.000000	0.71417	0.921000	0.36526	0.068000	0.16541	3.259000	0.51515	0.887000	0.36136	0.402000	0.26972	AAT		0.348	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
GPR156	165829	broad.mit.edu	37	3	119886770	119886770	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119886770G>A	ENST00000464295.1	-	10	1999	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	GPR156_ENST00000315843.3_Silent_p.G518G|GPR156_ENST00000461057.1_Silent_p.G514G			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	518						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.G518G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GATCTGAGCCGCCTCTTTCTG	0.572																																					p.G514G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1542T	3						.						113.0	126.0	121.0					3																	119886770		2203	4300	6503	121369460	SO:0001819	synonymous_variant	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1554C>T	3.37:g.119886770G>A			121369460	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	CCDS2997.1																																																																																				0.572	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
TIMP4	7079	broad.mit.edu	37	3	12192757	12192757	+	IGR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12192757C>A	ENST00000287814.4	-	0	1650				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.I166I(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TGGTCGCTATCTATAAGACAC	0.398																																					p.I234I	Melanoma(199;1446 2144 30617 38794 51714)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C702A	3						.						82.0	73.0	76.0					3																	12192757		1871	4104	5975	12167757	SO:0001628	intergenic_variant	6854	exon6			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12192757C>A			12167757	NM_003178	B2R7K6	Silent	SNP	ENST00000287814.4	37	CCDS2608.1																																																																																				0.398	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256	
GPR156	165829	broad.mit.edu	37	3	119892302	119892302	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:119892302C>A	ENST00000464295.1	-	9	1394	c.949G>T	c.(949-951)Gca>Tca	p.A317S	GPR156_ENST00000315843.3_Missense_Mutation_p.A317S|GPR156_ENST00000461057.1_Missense_Mutation_p.A313S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.A317S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTTCAAATGCCTTCCATTGC	0.398																																					p.A313S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937T	3						.						203.0	183.0	189.0					3																	119892302		2203	4300	6503	121374992	SO:0001583	missense	165829	exon8			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.949G>T	3.37:g.119892302C>A	ENSP00000417261:p.Ala317Ser		121374992	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866726	0.32977	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.23348	1.91;1.91;1.91	5.48	3.58	0.41010	.	0.317821	0.27792	N	0.017826	T	0.23806	0.0576	M	0.67953	2.075	0.27786	N	0.942993	P;P	0.35077	0.483;0.483	B;B	0.30943	0.122;0.122	T	0.13019	-1.0525	9	.	.	.	-5.8605	8.9517	0.35792	0.0:0.6408:0.2041:0.1551	.	313;317	E9PFZ4;Q8NFN8	.;GP156_HUMAN	S	317;317;313	ENSP00000417261:A317S;ENSP00000324553:A317S;ENSP00000418758:A313S	.	A	-	1	0	GPR156	121374992	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.641000	0.24720	1.324000	0.45282	0.462000	0.41574	GCA		0.398	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
STXBP5L	9515	broad.mit.edu	37	3	120924773	120924773	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:120924773A>C	ENST00000273666.6	+	10	1152	c.881A>C	c.(880-882)aAa>aCa	p.K294T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.K294T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.K294T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.K294T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.K294T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	294					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K294T(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		tCTTTAGGAAAAAGTCAAAGA	0.244																																					p.K294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A881C	3						.						35.0	34.0	34.0					3																	120924773		1778	4033	5811	122407463	SO:0001583	missense	9515	exon10			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.881A>C	3.37:g.120924773A>C	ENSP00000273666:p.Lys294Thr		122407463	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921823	0.73213	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38887	1.8;1.8;1.61;1.11;1.6;1.81	5.02	5.02	0.67125	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.048181	0.85682	D	0.000000	T	0.58878	0.2153	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58194	-0.7679	10	0.41790	T	0.15	-31.9659	14.3821	0.66919	1.0:0.0:0.0:0.0	.	294;294	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	294	ENSP00000273666:K294T;ENSP00000420019:K294T;ENSP00000419627:K294T;ENSP00000420287:K294T;ENSP00000420666:K294T;ENSP00000420167:K294T	ENSP00000273666:K294T	K	+	2	0	STXBP5L	122407463	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.999000	0.76283	1.871000	0.54225	0.240000	0.17902	AAA		0.244	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
STXBP5L	9515	broad.mit.edu	37	3	120973920	120973920	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:120973920T>G	ENST00000273666.6	+	16	1891	c.1620T>G	c.(1618-1620)atT>atG	p.I540M	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I540M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I540M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I540M|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I540M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	540					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I540M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATGTCATAATTTATAAATTCA	0.313																																					p.I540M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1620G	3						.						43.0	42.0	42.0					3																	120973920		1802	4078	5880	122456610	SO:0001583	missense	9515	exon16			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1620T>G	3.37:g.120973920T>G	ENSP00000273666:p.Ile540Met		122456610	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077356	0.36662	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.68479	1.27;-0.33;-0.33;0.35;-0.33;-0.33	5.36	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.205235	0.44483	D	0.000453	T	0.53077	0.1774	L	0.42245	1.32	0.42957	D	0.994393	P;P	0.40398	0.716;0.716	B;B	0.36186	0.146;0.219	T	0.56092	-0.8036	10	0.42905	T	0.14	-6.6623	8.0127	0.30363	0.0:0.1533:0.0:0.8467	.	540;540	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	M	540	ENSP00000273666:I540M;ENSP00000420019:I540M;ENSP00000419627:I540M;ENSP00000420287:I540M;ENSP00000420666:I540M;ENSP00000420167:I540M	ENSP00000273666:I540M	I	+	3	3	STXBP5L	122456610	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	1.001000	0.29783	2.027000	0.59764	0.482000	0.46254	ATT		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
STXBP5L	9515	broad.mit.edu	37	3	121097652	121097652	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121097652C>T	ENST00000273666.6	+	22	2609	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R756C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R756C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R780C|STXBP5L_ENST00000497029.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	780					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R780C(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAAGTAAATCGCTGGGGTCC	0.438																																					p.R780C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2338T	3						.						58.0	54.0	55.0					3																	121097652		1852	4103	5955	122580342	SO:0001583	missense	9515	exon22			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2338C>T	3.37:g.121097652C>T	ENSP00000273666:p.Arg780Cys		122580342	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890568	0.91889	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.62788	1.59;-0.0;-0.0;-0.0	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.50754	0.649;0.642	T	0.71626	-0.4536	10	0.48119	T	0.1	-6.6126	17.7945	0.88565	0.0:1.0:0.0:0.0	.	756;780	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	780;756;756;780	ENSP00000273666:R780C;ENSP00000420019:R756C;ENSP00000419627:R756C;ENSP00000420666:R780C	ENSP00000273666:R780C	R	+	1	0	STXBP5L	122580342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.408000	0.66368	2.514000	0.84764	0.585000	0.79938	CGC		0.438	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
POLQ	10721	broad.mit.edu	37	3	121202286	121202286	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121202286T>G	ENST00000264233.5	-	18	6045	c.5917A>C	c.(5917-5919)Att>Ctt	p.I1973L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1973					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.I2108L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAGAAGAATTTTATAGCTC	0.333								DNA polymerases (catalytic subunits)																													p.I1973L	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5917C	3						.						75.0	77.0	76.0					3																	121202286		2203	4300	6503	122684976	SO:0001583	missense	10721	exon18			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5917A>C	3.37:g.121202286T>G	ENSP00000264233:p.Ile1973Leu		122684976	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003658	0.35320	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.21932	1.98	5.44	3.0	0.34707	Ribonuclease H-like (1);	0.498441	0.21298	N	0.076849	T	0.14227	0.0344	L	0.47716	1.5	0.21256	N	0.999744	B;P	0.35527	0.144;0.507	B;B	0.30029	0.014;0.11	T	0.17379	-1.0371	10	0.30854	T	0.27	.	5.1147	0.14829	0.0:0.1569:0.1542:0.6889	.	1973;1145	O75417;O75417-2	DPOLQ_HUMAN;.	L	1596;1973;2109	ENSP00000264233:I1973L	ENSP00000264233:I1973L	I	-	1	0	POLQ	122684976	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.504000	0.35726	0.348000	0.23949	0.374000	0.22700	ATT		0.333	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
POLQ	10721	broad.mit.edu	37	3	121207776	121207776	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121207776C>T	ENST00000264233.5	-	16	4130	c.4002G>A	c.(4000-4002)caG>caA	p.Q1334Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1334					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.Q1469Q(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGTTGCCATCTGTTGTATTA	0.378								DNA polymerases (catalytic subunits)																													p.Q1334Q	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4002A	3						.						198.0	174.0	182.0					3																	121207776		2203	4300	6503	122690466	SO:0001819	synonymous_variant	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4002G>A	3.37:g.121207776C>T			122690466	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.378	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
POLQ	10721	broad.mit.edu	37	3	121208683	121208683	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121208683G>A	ENST00000264233.5	-	16	3223	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1032					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1167L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATCTTTTCTGAATTGAAATT	0.423								DNA polymerases (catalytic subunits)																													p.S1032L	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3095T	3						.						67.0	75.0	72.0					3																	121208683		2202	4300	6502	122691373	SO:0001583	missense	10721	exon16			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3095C>T	3.37:g.121208683G>A	ENSP00000264233:p.Ser1032Leu		122691373	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920923	0.17982	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50813	0.73	5.11	3.32	0.38043	.	0.946527	0.08872	N	0.881475	T	0.37461	0.1004	L	0.34521	1.04	0.26963	N	0.965773	B;B	0.27997	0.003;0.197	B;B	0.25614	0.006;0.062	T	0.30794	-0.9966	10	0.54805	T	0.06	.	8.7697	0.34724	0.1763:0.0:0.8237:0.0	.	1032;204	O75417;O75417-2	DPOLQ_HUMAN;.	L	655;1032;1168	ENSP00000264233:S1032L	ENSP00000264233:S1032L	S	-	2	0	POLQ	122691373	0.971000	0.33674	0.797000	0.32132	0.105000	0.19272	2.976000	0.49289	0.739000	0.32628	0.563000	0.77884	TCA		0.423	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
POLQ	10721	broad.mit.edu	37	3	121240949	121240949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121240949C>A	ENST00000264233.5	-	8	1284	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	386	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.E521*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCAGGAGTTCTTTTTGTTCC	0.413								DNA polymerases (catalytic subunits)																													p.E386X	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1156T	3						.						138.0	137.0	137.0					3																	121240949		2203	4300	6503	122723639	SO:0001587	stop_gained	10721	exon8			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1156G>T	3.37:g.121240949C>A	ENSP00000264233:p.Glu386*		122723639	NM_199420	O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392847	0.96009	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	4.81	1.18	0.20946	.	0.444833	0.27513	N	0.019021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.4867	0.33076	0.0:0.6867:0.0:0.3133	.	.	.	.	X	9;386;523	.	ENSP00000264233:E386X	E	-	1	0	POLQ	122723639	0.918000	0.31147	0.900000	0.35374	0.901000	0.52897	2.539000	0.45718	-0.009000	0.14296	0.591000	0.81541	GAA		0.413	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
ARGFX	503582	broad.mit.edu	37	3	121305442	121305442	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121305442C>A	ENST00000334384.3	+	4	953	c.943C>A	c.(943-945)Ctc>Atc	p.L315I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L315I(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CTTGGGATTTCTCTGACCAGA	0.388																																					p.L315I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C943A	3						.						35.0	39.0	38.0					3																	121305442		2170	4292	6462	122788132	SO:0001583	missense	503582	exon5				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.943C>A	3.37:g.121305442C>A	ENSP00000335578:p.Leu315Ile		122788132	NM_001012659		Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752430	0.31046	.	.	ENSG00000186103	ENST00000334384	D	0.90069	-2.61	2.09	0.192	0.15134	.	1.139500	0.07022	N	0.826931	T	0.78149	0.4238	N	0.14661	0.345	0.09310	N	1	P	0.37233	0.588	B	0.36418	0.224	T	0.68922	-0.5281	10	0.87932	D	0	.	4.6639	0.12655	0.0:0.6622:0.0:0.3378	.	315	A6NJG6	ARGFX_HUMAN	I	315	ENSP00000335578:L315I	ENSP00000335578:L315I	L	+	1	0	ARGFX	122788132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.596000	0.05720	0.048000	0.15891	-0.278000	0.10074	CTC		0.388	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659	
FBXO40	51725	broad.mit.edu	37	3	121341005	121341005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121341005G>T	ENST00000338040.4	+	3	1143	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	243					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K243N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCAAGAACAAGAATGACTCCG	0.468																																					p.K243N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G729T	3						.						66.0	71.0	69.0					3																	121341005		2203	4300	6503	122823695	SO:0001583	missense	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.729G>T	3.37:g.121341005G>T	ENSP00000337510:p.Lys243Asn		122823695	NM_016298	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.231153	0.01518	.	.	ENSG00000163833	ENST00000338040	T	0.44482	0.92	5.64	-0.282	0.12878	.	1.710450	0.02222	N	0.064086	T	0.20210	0.0486	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10660	-1.0620	10	0.22706	T	0.39	0.4045	3.6833	0.08319	0.0805:0.2375:0.4151:0.2669	.	243	Q9UH90	FBX40_HUMAN	N	243	ENSP00000337510:K243N	ENSP00000337510:K243N	K	+	3	2	FBXO40	122823695	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.408000	0.07169	0.024000	0.15214	0.591000	0.81541	AAG		0.468	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
HCLS1	3059	broad.mit.edu	37	3	121350797	121350797	+	Missense_Mutation	SNP	C	C	T	rs142545513		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121350797C>T	ENST00000314583.3	-	14	1448	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D416N	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	453	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.D453N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GTGATTACGTCGTCCGGATCA	0.502																																					p.D453N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	3						.	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	162.0	158.0	159.0		1357	5.5	1.0	3	dbSNP_134	159	0,8600		0,0,4300	no	missense	HCLS1	NM_005335.4	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	453/487	121350797	1,13005	2203	4300	6503	122833487	SO:0001583	missense	3059	exon14				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1357G>A	3.37:g.121350797C>T	ENSP00000320176:p.Asp453Asn		122833487	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486176	0.84854	2.27E-4	0.0	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.64618	-0.11;-0.11	5.53	5.53	0.82687	Src homology-3 domain (5);	0.043614	0.85682	D	0.000000	T	0.81019	0.4736	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.83597	0.0126	10	0.87932	D	0	-23.7167	16.9587	0.86266	0.0:1.0:0.0:0.0	.	416;453	E7EVW7;P14317	.;HCLS1_HUMAN	N	453;416	ENSP00000320176:D453N;ENSP00000387645:D416N	ENSP00000320176:D453N	D	-	1	0	HCLS1	122833487	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.453000	0.80700	2.607000	0.88179	0.563000	0.77884	GAC		0.502	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	broad.mit.edu	37	3	121412607	121412607	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121412607A>G	ENST00000340645.5	-	13	6873	c.6748T>C	c.(6748-6750)Tta>Cta	p.L2250L	GOLGB1_ENST00000393667.3_Silent_p.L2255L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2250					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L2250L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAATCTTTAATTCTTCCATA	0.338																																					p.L2250L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T6748C	3						.						164.0	155.0	158.0					3																	121412607		2203	4300	6503	122895297	SO:0001819	synonymous_variant	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6748T>C	3.37:g.121412607A>G			122895297	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																				0.338	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121412682	121412682	+	Nonsense_Mutation	SNP	C	C	A	rs186004105		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121412682C>A	ENST00000340645.5	-	13	6798	c.6673G>T	c.(6673-6675)Gaa>Taa	p.E2225*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2230*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2225					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2225*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTCTAATTTCTTCTTCTTTG	0.373																																					p.E2225X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6673T	3						.						229.0	207.0	214.0					3																	121412682		2203	4300	6503	122895372	SO:0001587	stop_gained	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6673G>T	3.37:g.121412682C>A	ENSP00000341848:p.Glu2225*		122895372	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	47	13.519348	0.99747	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.4537	0.87600	0.0:1.0:0.0:0.0	.	.	.	.	X	2225;2230	.	ENSP00000341848:E2225X	E	-	1	0	GOLGB1	122895372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.896000	0.69822	2.716000	0.92895	0.655000	0.94253	GAA		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121412904	121412904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121412904C>A	ENST00000340645.5	-	13	6576	c.6451G>T	c.(6451-6453)Gaa>Taa	p.E2151*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2156*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2151					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2151*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGACTTTTTCTCTGCGCAAA	0.418																																					p.E2151X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6451T	3						.						175.0	174.0	174.0					3																	121412904		2203	4300	6503	122895594	SO:0001587	stop_gained	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6451G>T	3.37:g.121412904C>A	ENSP00000341848:p.Glu2151*		122895594	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	46	12.699771	0.99689	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.75	5.75	0.90469	.	0.096990	0.44688	D	0.000422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.4537	0.87600	0.0:1.0:0.0:0.0	.	.	.	.	X	2151;2156	.	ENSP00000341848:E2151X	E	-	1	0	GOLGB1	122895594	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.731000	0.84895	2.716000	0.92895	0.655000	0.94253	GAA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121413018	121413018	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121413018T>C	ENST00000340645.5	-	13	6462	c.6337A>G	c.(6337-6339)Aaa>Gaa	p.K2113E	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K2118E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2113					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K2113E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTGGCTTTTAACTGATTCT	0.408																																					p.K2113E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6337G	3						.						180.0	184.0	183.0					3																	121413018		2203	4300	6503	122895708	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6337A>G	3.37:g.121413018T>C	ENSP00000341848:p.Lys2113Glu		122895708	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758027	0.31137	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16457	2.34;2.34	5.93	4.78	0.61160	.	0.187625	0.38005	N	0.001859	T	0.21387	0.0515	L	0.48642	1.525	0.32047	N	0.597421	D;P;P;P	0.54964	0.969;0.734;0.734;0.952	P;B;B;P	0.62491	0.903;0.391;0.391;0.767	T	0.22730	-1.0208	10	0.02654	T	1	.	4.865	0.13604	0.1644:0.0844:0.0:0.7512	.	2038;2118;2118;2113	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	E	2113;2118	ENSP00000341848:K2113E;ENSP00000377275:K2118E	ENSP00000341848:K2113E	K	-	1	0	GOLGB1	122895708	0.121000	0.22262	0.940000	0.37924	0.994000	0.84299	0.630000	0.24553	2.273000	0.75805	0.482000	0.46254	AAA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121414880	121414880	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121414880C>T	ENST00000340645.5	-	13	4600	c.4475G>A	c.(4474-4476)cGa>cAa	p.R1492Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R1497Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1492					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R1492Q(1)|p.R1492L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTTCTTTTCGGGAAATAAG	0.418																																					p.R1492Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4475A	3						.						180.0	190.0	186.0					3																	121414880		2203	4299	6502	122897570	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4475G>A	3.37:g.121414880C>T	ENSP00000341848:p.Arg1492Gln		122897570	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693890	0.68386	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.61392	1.27;1.25;0.11	6.02	6.02	0.97574	.	0.000000	0.53938	D	0.000047	T	0.74535	0.3729	M	0.75264	2.295	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.67593	-0.5631	10	0.13108	T	0.6	.	18.0346	0.89296	0.0:1.0:0.0:0.0	.	1417;1456;1497;1497;1492	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	Q	1492;1497;1456	ENSP00000341848:R1492Q;ENSP00000377275:R1497Q;ENSP00000418231:R1456Q	ENSP00000341848:R1492Q	R	-	2	0	GOLGB1	122897570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	CGA		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121415622	121415622	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121415622C>A	ENST00000340645.5	-	13	3858	c.3733G>T	c.(3733-3735)Gac>Tac	p.D1245Y	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D1250Y	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1245					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.D1245Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGTTTTCCGTCTATGGATTCC	0.438																																					p.D1245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3733T	3						.						206.0	186.0	193.0					3																	121415622		2203	4300	6503	122898312	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3733G>T	3.37:g.121415622C>A	ENSP00000341848:p.Asp1245Tyr		122898312	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.689097	0.00738	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.26373	2.35;2.35;1.74	5.77	3.93	0.45458	.	0.508110	0.18210	N	0.148224	T	0.24699	0.0599	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.006;0.006;0.004;0.004;0.003	T	0.19516	-1.0303	10	0.62326	D	0.03	.	7.5764	0.27939	0.1624:0.7525:0.0:0.0851	.	1170;1209;1250;1250;1245	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	Y	1245;1250;1209	ENSP00000341848:D1245Y;ENSP00000377275:D1250Y;ENSP00000418231:D1209Y	ENSP00000341848:D1245Y	D	-	1	0	GOLGB1	122898312	0.004000	0.15560	0.005000	0.12908	0.014000	0.08584	0.485000	0.22324	1.399000	0.46721	0.655000	0.94253	GAC		0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121435903	121435903	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121435903C>A	ENST00000340645.5	-	9	1079	c.954G>T	c.(952-954)aaG>aaT	p.K318N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K323N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	318					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K318N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAGTAGAATCTTGGACTCCT	0.388																																					p.K318N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G954T	3						.						98.0	97.0	98.0					3																	121435903		2203	4300	6503	122918593	SO:0001583	missense	2804	exon9			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.954G>T	3.37:g.121435903C>A	ENSP00000341848:p.Lys318Asn		122918593	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553926|1.553926	0.27739|0.27739	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.23950|.	2.45;2.45;1.88|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.365989|.	0.26824|.	N|.	0.022310|.	T|T	0.63010|0.63010	0.2475|0.2475	L|L	0.60455|0.60455	1.87|1.87	0.33169|0.33169	D|D	0.547953|0.547953	P;D;P;P;P|.	0.53312|.	0.879;0.959;0.879;0.928;0.879|.	B;P;B;P;B|.	0.50659|.	0.311;0.647;0.426;0.647;0.311|.	T|T	0.68834|0.68834	-0.5304|-0.5304	10|5	0.33940|.	T|.	0.23|.	.|.	16.144|16.144	0.81551|0.81551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	243;282;323;323;318|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	N|I	318;323;282;130|189	ENSP00000341848:K318N;ENSP00000377275:K323N;ENSP00000418231:K282N|.	ENSP00000341848:K318N|.	K|R	-|-	3|2	2|0	GOLGB1|GOLGB1	122918593|122918593	0.008000|0.008000	0.16893|0.16893	0.796000|0.796000	0.32109|0.32109	0.016000|0.016000	0.09150|0.09150	0.875000|0.875000	0.28079|0.28079	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
IQCB1	9657	broad.mit.edu	37	3	121500623	121500623	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121500623C>A	ENST00000310864.6	-	13	1591	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	IQCB1_ENST00000349820.6_Missense_Mutation_p.K326N	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	459					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.K459N(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CCACTCGTTTCTTCAGTTCAA	0.413																																					p.K459N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1377T	3						.						151.0	140.0	143.0					3																	121500623		2203	4300	6503	122983313	SO:0001583	missense	9657	exon13			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1377G>T	3.37:g.121500623C>A	ENSP00000311505:p.Lys459Asn		122983313	NM_001023570	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224687	0.39300	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79247	-1.25;-1.25	4.61	2.82	0.32997	.	0.158705	0.56097	D	0.000032	T	0.70124	0.3188	L	0.51422	1.61	0.33236	D	0.556563	B;B	0.34329	0.155;0.449	B;B	0.37091	0.051;0.241	T	0.73802	-0.3868	10	0.52906	T	0.07	-7.0424	7.1039	0.25353	0.0:0.7963:0.0:0.2037	.	459;326	Q15051;Q15051-2	IQCB1_HUMAN;.	N	459;326	ENSP00000311505:K459N;ENSP00000323756:K326N	ENSP00000311505:K459N	K	-	3	2	IQCB1	122983313	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.349000	0.52217	0.676000	0.31285	0.591000	0.81541	AAG		0.413	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
IQCB1	9657	broad.mit.edu	37	3	121500704	121500704	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121500704C>T	ENST00000310864.6	-	13	1510	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	IQCB1_ENST00000349820.6_Silent_p.A299A	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	432	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)	p.A432A(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TACGGCACTTCGCTAGGAATT	0.403																																					p.A432A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1296A	3						.						100.0	98.0	99.0					3																	121500704		2203	4300	6503	122983394	SO:0001819	synonymous_variant	9657	exon13			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1296G>A	3.37:g.121500704C>T			122983394	NM_001023570	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Silent	SNP	ENST00000310864.6	37	CCDS33837.1																																																																																				0.403	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	
SLC15A2	6565	broad.mit.edu	37	3	121613416	121613416	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121613416G>T	ENST00000489711.1	+	1	481	c.93G>T	c.(91-93)aaG>aaT	p.K31N	SLC15A2_ENST00000295605.2_Missense_Mutation_p.K31N	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	31					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.K31N(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCCCTCCAAAGAAGCCATCTC	0.512																																					p.K31N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G93T	3						.						221.0	231.0	228.0					3																	121613416		2203	4300	6503	123096106	SO:0001583	missense	6565	exon1			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.93G>T	3.37:g.121613416G>T	ENSP00000417085:p.Lys31Asn		123096106	NM_001145998	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136345	0.37728	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.59224	0.28;0.28	5.1	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);	0.402164	0.25596	N	0.029594	T	0.45236	0.1332	L	0.39147	1.195	0.32212	N	0.576427	B;B	0.32245	0.361;0.361	B;B	0.29440	0.102;0.102	T	0.57648	-0.7775	10	0.54805	T	0.06	-2.5899	8.955	0.35812	0.0985:0.0:0.9015:0.0	.	31;31	B4E2A7;Q16348	.;S15A2_HUMAN	N	31;24;31	ENSP00000417085:K31N;ENSP00000295605:K31N	ENSP00000295605:K31N	K	+	3	2	SLC15A2	123096106	1.000000	0.71417	0.992000	0.48379	0.731000	0.41821	2.283000	0.43470	1.378000	0.46305	0.557000	0.71058	AAG		0.512	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
SLC15A2	6565	broad.mit.edu	37	3	121631956	121631956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121631956G>T	ENST00000489711.1	+	5	905	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.E142*	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	173					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.E173*(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGACCAGTTTGAAGAAAAACA	0.428																																					p.E142X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G424T	3						.						207.0	207.0	207.0					3																	121631956		2203	4300	6503	123114646	SO:0001587	stop_gained	6565	exon4			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.517G>T	3.37:g.121631956G>T	ENSP00000417085:p.Glu173*		123114646	NM_001145998	A8K1A5|B4E2A7	Nonsense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919668	0.92249	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	.	.	.	6.05	5.13	0.70059	.	0.143150	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-20.8985	14.5457	0.68030	0.0:0.1472:0.8528:0.0	.	.	.	.	X	173;135;142;111	.	ENSP00000295605:E142X	E	+	1	0	SLC15A2	123114646	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.877000	0.69675	2.878000	0.98634	0.650000	0.86243	GAA		0.428	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
ILDR1	286676	broad.mit.edu	37	3	121707245	121707245	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121707245C>T	ENST00000344209.5	-	8	1736	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N	ILDR1_ENST00000462014.1_Missense_Mutation_p.S505N|ILDR1_ENST00000273691.3_Missense_Mutation_p.S493N|ILDR1_ENST00000393631.1_Missense_Mutation_p.S448N	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	537					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.S493N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACTATGAGAGCTGTCTTTCTC	0.428																																					p.S493N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478A	3						.						172.0	137.0	149.0					3																	121707245		2203	4300	6503	123189935	SO:0001583	missense	286676	exon7			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1610G>A	3.37:g.121707245C>T	ENSP00000345667:p.Ser537Asn		123189935	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210047	0.79240	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;D;T	0.83419	-1.12;-1.01;-1.72;-0.8	5.28	4.41	0.53225	.	0.072737	0.85682	D	0.000000	D	0.84110	0.5400	M	0.70275	2.135	0.53688	D	0.999977	B;B;B;P	0.44344	0.087;0.009;0.015;0.833	B;B;B;P	0.46825	0.043;0.012;0.027;0.528	D	0.83852	0.0263	10	0.42905	T	0.14	-20.3114	11.7991	0.52116	0.0:0.9156:0.0:0.0844	.	448;537;493;505	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	N	493;537;448;505	ENSP00000273691:S493N;ENSP00000345667:S537N;ENSP00000377251:S448N;ENSP00000419414:S505N	ENSP00000273691:S493N	S	-	2	0	ILDR1	123189935	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.370000	0.44240	1.472000	0.48140	0.650000	0.86243	AGC		0.428	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
CASR	846	broad.mit.edu	37	3	121981171	121981171	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121981171C>T	ENST00000490131.1	+	4	1661	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	CASR_ENST00000296154.5_Missense_Mutation_p.A430V|CASR_ENST00000498619.1_Missense_Mutation_p.A430V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	430					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.A430V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATTGCCCACGCCTTGCAAGAT	0.493																																					p.A430V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289T	3						.						117.0	111.0	113.0					3																	121981171		2203	4300	6503	123463861	SO:0001583	missense	846	exon4			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1289C>T	3.37:g.121981171C>T	ENSP00000418685:p.Ala430Val		123463861	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755944	0.89843	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.94828	-3.53;-3.53;-3.53	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.98847	1.0757	10	0.66056	D	0.02	.	19.3193	0.94231	0.0:1.0:0.0:0.0	.	430;430	E7ENE0;P41180	.;CASR_HUMAN	V	430	ENSP00000418685:A430V;ENSP00000420194:A430V;ENSP00000296154:A430V	ENSP00000296154:A430V	A	+	2	0	CASR	123463861	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	GCC		0.493	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
CASR	846	broad.mit.edu	37	3	121994750	121994750	+	Missense_Mutation	SNP	C	C	T	rs202112921		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:121994750C>T	ENST00000490131.1	+	5	1841	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CASR_ENST00000296154.5_Missense_Mutation_p.S490F|CASR_ENST00000498619.1_Missense_Mutation_p.S490F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	490					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S490F(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGGAACTATTCCATCATCAAC	0.488																																					p.S490F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1469T	3						.						167.0	149.0	155.0					3																	121994750		2203	4300	6503	123477440	SO:0001583	missense	846	exon5			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1469C>T	3.37:g.121994750C>T	ENSP00000418685:p.Ser490Phe		123477440	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213785	0.79352	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.83075	-1.68;-1.68;-1.68	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.048414	0.85682	D	0.000000	D	0.83741	0.5320	L	0.41492	1.28	0.53688	D	0.99997	P;P	0.52463	0.934;0.953	P;P	0.49637	0.617;0.559	D	0.85261	0.1050	10	0.87932	D	0	.	19.1688	0.93569	0.0:1.0:0.0:0.0	.	490;490	E7ENE0;P41180	.;CASR_HUMAN	F	490	ENSP00000418685:S490F;ENSP00000420194:S490F;ENSP00000296154:S490F	ENSP00000296154:S490F	S	+	2	0	CASR	123477440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.911000	0.69939	2.840000	0.97914	0.655000	0.94253	TCC		0.488	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
KPNA1	3836	broad.mit.edu	37	3	122160928	122160928	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122160928C>T	ENST00000344337.6	-	10	1129	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	318	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.R318Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCCCACAGCTCGCAAAGCAGG	0.353																																					p.R318Q	Melanoma(12;340 801 11196 19797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953A	3						.						179.0	185.0	183.0					3																	122160928		2203	4300	6503	123643618	SO:0001583	missense	3836	exon10			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.953G>A	3.37:g.122160928C>T	ENSP00000343701:p.Arg318Gln		123643618	NM_002264	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708372	0.96821	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.69806	-0.43;-0.43	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92756	0.6220	10	0.87932	D	0	-14.7106	17.8521	0.88750	0.0:1.0:0.0:0.0	.	318	P52294	IMA1_HUMAN	Q	318	ENSP00000343701:R318Q;ENSP00000419890:R318Q	ENSP00000343701:R318Q	R	-	2	0	KPNA1	123643618	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.625000	0.83145	2.692000	0.91855	0.655000	0.94253	CGA		0.353	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
KPNA1	3836	broad.mit.edu	37	3	122170460	122170460	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122170460C>T	ENST00000344337.6	-	8	850	c.674G>A	c.(673-675)cGc>cAc	p.R225H	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	225	NLS binding site (major). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)	p.R225H(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CATGGTCAGGCGGTTTTGCTT	0.383																																					p.R225H	Melanoma(12;340 801 11196 19797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G674A	3						.						96.0	97.0	97.0					3																	122170460		2203	4300	6503	123653150	SO:0001583	missense	3836	exon8			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.674G>A	3.37:g.122170460C>T	ENSP00000343701:p.Arg225His		123653150	NM_002264	D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383943	0.95967	.	.	ENSG00000114030	ENST00000344337;ENST00000465882	T;T	0.68765	-0.35;-0.35	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83312	0.5227	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.86438	0.1765	10	0.66056	D	0.02	-5.1192	17.0429	0.86494	0.0:1.0:0.0:0.0	.	225	P52294	IMA1_HUMAN	H	225	ENSP00000343701:R225H;ENSP00000419890:R225H	ENSP00000343701:R225H	R	-	2	0	KPNA1	123653150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.493000	0.84123	0.460000	0.39030	CGC		0.383	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264	
PARP9	83666	broad.mit.edu	37	3	122255885	122255885	+	Missense_Mutation	SNP	C	C	T	rs369798989		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122255885C>T	ENST00000360356.2	-	9	2133	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	PARP9_ENST00000462315.1_Missense_Mutation_p.E601K|PARP9_ENST00000471785.1_Missense_Mutation_p.E601K|PARP9_ENST00000492382.1_Missense_Mutation_p.E181K|PARP9_ENST00000477522.2_Missense_Mutation_p.E601K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	636	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E636K(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTTTCATTTCGTCTTGGGTT	0.343																																					p.E601K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1801A	3						.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	161.0	160.0	161.0		1906,1801,1801,1801,1801,1906	-0.6	0.0	3		161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	PARP9	NM_001146102.1,NM_001146103.1,NM_001146104.1,NM_001146105.1,NM_001146106.1,NM_031458.2	56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	636/855,601/820,601/820,601/820,601/711,636/855	122255885	1,13005	2203	4300	6503	123738575	SO:0001583	missense	83666	exon9			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1906G>A	3.37:g.122255885C>T	ENSP00000353512:p.Glu636Lys		123738575	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	2.770	-0.255801	0.05829	0.0	1.16E-4	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17691	3.27;2.96;3.13;3.13;2.26	4.42	-0.57	0.11753	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.903779	0.09396	N	0.807834	T	0.07098	0.0180	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.17268	0.004;0.021;0.003;0.003	B;B;B;B	0.08055	0.001;0.002;0.002;0.003	T	0.42241	-0.9463	10	0.07482	T	0.82	.	7.6497	0.28342	0.0:0.637:0.1315:0.2315	.	601;636;181;601	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	K	636;181;601;601;559;601	ENSP00000353512:E636K;ENSP00000417664:E181K;ENSP00000419506:E601K;ENSP00000419001:E601K;ENSP00000418894:E601K	ENSP00000353512:E636K	E	-	1	0	PARP9	123738575	0.000000	0.05858	0.009000	0.14445	0.014000	0.08584	-0.360000	0.07622	-0.120000	0.11809	-1.305000	0.01319	GAA		0.343	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
PARP9	83666	broad.mit.edu	37	3	122274888	122274888	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122274888G>A	ENST00000360356.2	-	4	462	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	PARP9_ENST00000462315.1_Missense_Mutation_p.R44C|PARP9_ENST00000471785.1_Missense_Mutation_p.R44C|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.R44C	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	79					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R79C(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CACAGCTGACGCTCATTATTT	0.403																																					p.R44C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C130T	3						.						47.0	47.0	47.0					3																	122274888		2203	4300	6503	123757578	SO:0001583	missense	83666	exon4			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.235C>T	3.37:g.122274888G>A	ENSP00000353512:p.Arg79Cys		123757578	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473267	0.26423	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000462315;ENST00000466126	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.31	1.26	0.21427	.	0.658159	0.14977	N	0.287477	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;P;P	0.52061	0.95;0.947;0.948	B;B;P	0.48030	0.361;0.27;0.564	T	0.09487	-1.0672	10	0.72032	D	0.01	.	6.7642	0.23558	0.1419:0.0:0.27:0.5881	.	44;79;44	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	C	79;44;44;44;57	ENSP00000353512:R79C;ENSP00000419506:R44C;ENSP00000419001:R44C;ENSP00000418894:R44C;ENSP00000419626:R57C	ENSP00000353512:R79C	R	-	1	0	PARP9	123757578	0.000000	0.05858	0.089000	0.20774	0.071000	0.16799	-0.156000	0.10100	0.451000	0.26802	-0.266000	0.10368	CGT		0.403	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
PARP15	165631	broad.mit.edu	37	3	122345867	122345867	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122345867C>A	ENST00000464300.2	+	9	1491	c.1425C>A	c.(1423-1425)ttC>ttA	p.F475L	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.F241L|PARP15_ENST00000493645.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.F241L(1)|p.F475L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AGTCCACATTCTCCATGACTA	0.353																																					p.F241L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C723A	3						.						70.0	68.0	69.0					3																	122345867		2203	4300	6503	123828557	SO:0001583	missense	165631	exon5			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1425C>A	3.37:g.122345867C>A	ENSP00000417214:p.Phe475Leu		123828557	NM_152615	J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377549	0.11466	.	.	ENSG00000173200	ENST00000464300;ENST00000542823;ENST00000310366	T;T	0.11495	2.77;2.79	3.7	-2.64	0.06114	.	.	.	.	.	T	0.06462	0.0166	L	0.48642	1.525	0.09310	N	1	B;B;B	0.10296	0.002;0.0;0.003	B;B;B	0.09377	0.004;0.002;0.002	T	0.46359	-0.9197	9	0.10902	T	0.67	.	0.6387	0.00807	0.2811:0.228:0.2947:0.1961	.	241;222;453	Q460N3-2;F5H8I1;Q460N3	.;.;PAR15_HUMAN	L	475;222;241	ENSP00000417214:F475L;ENSP00000308436:F241L	ENSP00000308436:F241L	F	+	3	2	PARP15	123828557	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.619000	0.02048	-0.395000	0.07715	0.563000	0.77884	TTC		0.353	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615	
PARP14	54625	broad.mit.edu	37	3	122404133	122404133	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122404133G>T	ENST00000474629.2	+	2	555	c.289G>T	c.(289-291)Gat>Tat	p.D97Y		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D97Y(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGATGAAATCGATCATGTCTT	0.413																																					p.D97Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G289T	3						.						79.0	73.0	75.0					3																	122404133		1869	4109	5978	123886823	SO:0001583	missense	54625	exon2			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.289G>T	3.37:g.122404133G>T	ENSP00000418194:p.Asp97Tyr		123886823	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.075|0.075	-1.194830|-1.194830	0.01594|0.01594	.|.	.|.	ENSG00000173193|ENSG00000173193	ENST00000474629;ENST00000398162|ENST00000494811	T|.	0.10382|.	2.88|.	3.97|3.97	2.96|2.96	0.34315|0.34315	.|.	0.900187|.	0.09734|.	N|.	0.762742|.	T|T	0.19846|0.19846	0.0477|0.0477	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.24618|.	0.107|.	B|.	0.23150|.	0.044|.	T|T	0.22626|0.22626	-1.0211|-1.0211	10|5	0.66056|.	D|.	0.02|.	.|.	5.4232|5.4232	0.16411|0.16411	0.0:0.6808:0.1967:0.1225|0.0:0.6808:0.1967:0.1225	.|.	97|.	Q460N5|.	PAR14_HUMAN|.	Y|L	97|105	ENSP00000418194:D97Y|.	ENSP00000381228:D97Y|.	D|R	+|+	1|2	0|0	PARP14|PARP14	123886823|123886823	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.014000|0.014000	0.08584|0.08584	-1.036000|-1.036000	0.03560|0.03560	0.528000|0.528000	0.28580|0.28580	-0.295000|-0.295000	0.09555|0.09555	GAT|CGA		0.413	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
PARP14	54625	broad.mit.edu	37	3	122411159	122411159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122411159G>T	ENST00000474629.2	+	4	633	c.367G>T	c.(367-369)Gaa>Taa	p.E123*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E123*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGTCAGAAGAATTGGATAC	0.378																																					p.E123X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G367T	3						.						108.0	106.0	106.0					3																	122411159		1868	4098	5966	123893849	SO:0001587	stop_gained	54625	exon4			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.367G>T	3.37:g.122411159G>T	ENSP00000418194:p.Glu123*		123893849	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	36	5.889568	0.97068	.	.	ENSG00000173193	ENST00000474629	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.9742	0.64262	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000418194:E123X	E	+	1	0	PARP14	123893849	0.797000	0.28877	0.406000	0.26421	0.680000	0.39746	1.597000	0.36729	2.661000	0.90470	0.655000	0.94253	GAA		0.378	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
PARP14	54625	broad.mit.edu	37	3	122418260	122418260	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122418260A>C	ENST00000474629.2	+	6	1125	c.859A>C	c.(859-861)Aaa>Caa	p.K287Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K287Q(1)|p.K124Q(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATGGCCACAAAACTCGACTT	0.383																																					p.K287Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A859C	3						.						74.0	68.0	70.0					3																	122418260		1909	4116	6025	123900950	SO:0001583	missense	54625	exon6			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.859A>C	3.37:g.122418260A>C	ENSP00000418194:p.Lys287Gln		123900950	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352498	0.24512	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.75477	-0.94	5.46	4.29	0.51040	.	0.172678	0.40064	N	0.001193	T	0.66446	0.2790	L	0.48642	1.525	0.22066	N	0.999382	B;B	0.30281	0.275;0.087	B;B	0.33454	0.164;0.054	T	0.53746	-0.8395	10	0.22109	T	0.4	.	11.0511	0.47889	0.5794:0.4206:0.0:0.0	.	287;287	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	287;206	ENSP00000418194:K287Q	ENSP00000381228:K206Q	K	+	1	0	PARP14	123900950	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	0.749000	0.26320	1.051000	0.40369	0.533000	0.62120	AAA		0.383	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
PARP14	54625	broad.mit.edu	37	3	122418645	122418645	+	Missense_Mutation	SNP	A	A	C	rs375891999		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122418645A>C	ENST00000474629.2	+	6	1510	c.1244A>C	c.(1243-1245)aAt>aCt	p.N415T		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N415T(1)|p.N252T(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACCATAAAAAATGATGTGAAA	0.393																																					p.N415T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1244C	3						.						132.0	126.0	128.0					3																	122418645		1883	4112	5995	123901335	SO:0001583	missense	54625	exon6			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1244A>C	3.37:g.122418645A>C	ENSP00000418194:p.Asn415Thr		123901335	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	4.639	0.118872	0.08881	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.09538	2.97	5.32	5.32	0.75619	.	1.025630	0.07740	N	0.946781	T	0.08758	0.0217	N	0.25647	0.755	0.09310	N	1	B;B	0.25772	0.038;0.134	B;B	0.20577	0.009;0.03	T	0.31530	-0.9940	10	0.11794	T	0.64	.	10.9314	0.47220	0.8433:0.1567:0.0:0.0	.	415;415	Q460N5-4;Q460N5	.;PAR14_HUMAN	T	415;334	ENSP00000418194:N415T	ENSP00000381228:N334T	N	+	2	0	PARP14	123901335	0.005000	0.15991	0.012000	0.15200	0.033000	0.12548	1.805000	0.38883	2.228000	0.72767	0.533000	0.62120	AAT		0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
PARP14	54625	broad.mit.edu	37	3	122419237	122419237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122419237G>T	ENST00000474629.2	+	6	2102	c.1836G>T	c.(1834-1836)aaG>aaT	p.K612N		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K612N(1)|p.K449N(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTCATGGCAAGAAATGGAAAG	0.393																																					p.K612N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1836T	3						.						38.0	36.0	37.0					3																	122419237		1865	4093	5958	123901927	SO:0001583	missense	54625	exon6			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1836G>T	3.37:g.122419237G>T	ENSP00000418194:p.Lys612Asn		123901927	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713810	0.15306	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10288	2.89	5.35	-2.7	0.06004	.	0.920008	0.09291	N	0.822273	T	0.07908	0.0198	L	0.46157	1.445	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.006	T	0.40924	-0.9537	10	0.32370	T	0.25	.	2.6082	0.04884	0.1511:0.1422:0.1826:0.5241	.	612;612	Q460N5-4;Q460N5	.;PAR14_HUMAN	N	612;531	ENSP00000418194:K612N	ENSP00000381228:K531N	K	+	3	2	PARP14	123901927	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.004000	0.03678	-0.280000	0.09154	0.655000	0.94253	AAG		0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
DIRC2	84925	broad.mit.edu	37	3	122564617	122564617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122564617C>T	ENST00000261038.5	+	5	1239	c.841C>T	c.(841-843)Cga>Tga	p.R281*		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	281					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R281*(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CAGCAATTTTCGATTTTTGAT	0.348																																					p.R281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C841T	3						.						104.0	91.0	96.0					3																	122564617		2203	4300	6503	124047307	SO:0001587	stop_gained	84925	exon5			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.841C>T	3.37:g.122564617C>T	ENSP00000261038:p.Arg281*		124047307	NM_032839	A8K561|Q8NBX9	Nonsense_Mutation	SNP	ENST00000261038.5	37	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	39	7.590009	0.98378	.	.	ENSG00000138463	ENST00000261038	.	.	.	5.38	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9351	0.41545	0.6661:0.3339:0.0:0.0	.	.	.	.	X	281	.	ENSP00000261038:R281X	R	+	1	2	DIRC2	124047307	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.874000	0.39568	0.879000	0.35944	-0.265000	0.10407	CGA		0.348	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839	
CNTN6	27255	broad.mit.edu	37	3	1269508	1269508	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:1269508G>T	ENST00000446702.2	+	4	816	c.189G>T	c.(187-189)aaG>aaT	p.K63N	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.K63N			Q9UQ52	CNTN6_HUMAN	contactin 6	63	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K63N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAGGTGGAAGCAAAATGGCA	0.348																																					p.K63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G189T	3						.						106.0	104.0	105.0					3																	1269508		2203	4300	6503	1244508	SO:0001583	missense	27255	exon4			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.189G>T	3.37:g.1269508G>T	ENSP00000407822:p.Lys63Asn		1244508	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736013	0.69189	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.40225	1.04;1.04	5.47	1.46	0.22682	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.303925	0.28214	N	0.016165	T	0.35307	0.0927	M	0.75447	2.3	0.80722	D	1	P	0.39748	0.686	B	0.37239	0.244	T	0.06826	-1.0805	10	0.27785	T	0.31	.	4.7339	0.12979	0.3059:0.0:0.5565:0.1376	.	63	Q9UQ52	CNTN6_HUMAN	N	63	ENSP00000407822:K63N;ENSP00000341882:K63N	ENSP00000341882:K63N	K	+	3	2	CNTN6	1244508	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.621000	0.36986	0.038000	0.15604	0.557000	0.71058	AAG		0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
SEMA5B	54437	broad.mit.edu	37	3	122634465	122634465	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122634465G>A	ENST00000357599.3	-	14	2196	c.1810C>T	c.(1810-1812)Cgg>Tgg	p.R604W	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R604W|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R658W	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	604					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R604W(1)|p.R658W(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)		GTCACATTCCGCACCTGAAGA	0.567																																					p.R604W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1810T	3						.						56.0	55.0	56.0					3																	122634465		2203	4300	6503	124117155	SO:0001583	missense	54437	exon14			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.1810C>T	3.37:g.122634465G>A	ENSP00000350215:p.Arg604Trp		124117155	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013262	0.54468	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.88	4.0	0.46444	.	0.050126	0.85682	D	0.000000	T	0.40886	0.1135	M	0.72894	2.215	0.45076	D	0.998097	D;D;D	0.89917	0.999;1.0;1.0	D;D;P	0.63488	0.91;0.915;0.88	T	0.31447	-0.9943	10	0.62326	D	0.03	.	11.2252	0.48880	0.0:0.0:0.5368:0.4632	.	546;604;604	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	W	604;604;546;658;604	ENSP00000350215:R604W;ENSP00000195173:R604W;ENSP00000389588:R658W;ENSP00000377208:R604W	ENSP00000195173:R604W	R	-	1	2	SEMA5B	124117155	1.000000	0.71417	0.996000	0.52242	0.657000	0.38888	1.502000	0.35704	1.259000	0.44117	0.561000	0.74099	CGG		0.567	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
ADCY5	111	broad.mit.edu	37	3	123039609	123039609	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:123039609C>A	ENST00000462833.1	-	9	3310	c.2098G>T	c.(2098-2100)Gac>Tac	p.D700Y	ADCY5_ENST00000491190.1_Missense_Mutation_p.D333Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.D350Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	700					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D700Y(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCTTGGGGTCTTCAAAGCCC	0.483																																					p.D700Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2098T	3						.						94.0	82.0	86.0					3																	123039609		2203	4300	6503	124522299	SO:0001583	missense	111	exon9			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2098G>T	3.37:g.123039609C>A	ENSP00000419361:p.Asp700Tyr		124522299	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076304	0.76415	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.81508	0.4837	L	0.42245	1.32	0.80722	D	1	P;D	0.58970	0.827;0.984	P;P	0.62491	0.666;0.903	T	0.78588	-0.2146	10	0.25106	T	0.35	.	16.1074	0.81234	0.0:1.0:0.0:0.0	.	700;333	O95622;B3KWA8	ADCY5_HUMAN;.	Y	700;333;350;259	ENSP00000419361:D700Y;ENSP00000418537:D333Y;ENSP00000308685:D350Y;ENSP00000420082:D259Y	ENSP00000308685:D350Y	D	-	1	0	ADCY5	124522299	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.968000	0.76086	2.272000	0.75746	0.549000	0.68633	GAC		0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
ADCY5	111	broad.mit.edu	37	3	123044306	123044306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:123044306C>A	ENST00000462833.1	-	8	3163	c.1951G>T	c.(1951-1953)Gaa>Taa	p.E651*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E284*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E301*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	651					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E651*(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCTTCTCTTCTTTCTGGAAG	0.582																																					p.E651X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1951T	3						.						142.0	147.0	146.0					3																	123044306		2203	4300	6503	124526996	SO:0001587	stop_gained	111	exon8			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1951G>T	3.37:g.123044306C>A	ENSP00000419361:p.Glu651*		124526996	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Nonsense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	50	16.511038	0.99865	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	.	.	.	4.99	4.99	0.66335	.	0.067708	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.4798	0.90807	0.0:1.0:0.0:0.0	.	.	.	.	X	651;284;301;210	.	ENSP00000308685:E301X	E	-	1	0	ADCY5	124526996	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.612000	0.88384	0.655000	0.94253	GAA		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
MYLK	4638	broad.mit.edu	37	3	123366251	123366251	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:123366251C>T	ENST00000475616.1	-	24	4438	c.4439G>A	c.(4438-4440)cGa>cAa	p.R1480Q	MYLK_ENST00000359169.1_Missense_Mutation_p.R1480Q|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.R1411Q|MYLK_ENST00000354792.5_Missense_Mutation_p.R280Q|MYLK_ENST00000360772.3_Missense_Mutation_p.R1480Q|MYLK_ENST00000360304.3_Missense_Mutation_p.R1480Q			Q15746	MYLK_HUMAN	myosin light chain kinase	1480	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.R1480Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTACAAGTCGAAAGACCTG	0.443																																					p.R1480Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4439A	3						.						66.0	64.0	65.0					3																	123366251		2203	4300	6503	124848941	SO:0001583	missense	4638	exon27			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4439G>A	3.37:g.123366251C>T	ENSP00000418335:p.Arg1480Gln		124848941	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698334	0.88830	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.58	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.53238	0.1784	L	0.39467	1.215	0.43835	D	0.996417	D;D;D;D;D	0.89917	0.966;1.0;0.997;0.998;0.973	P;P;P;P;P	0.61328	0.664;0.887;0.708;0.865;0.774	T	0.57757	-0.7756	9	0.87932	D	0	.	15.8758	0.79159	0.1366:0.8634:0.0:0.0	.	1480;1411;1480;1411;1480	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	Q	1480;1480;1480;1411;280;1480	ENSP00000354004:R1480Q;ENSP00000353452:R1480Q;ENSP00000352088:R1480Q;ENSP00000320622:R1411Q;ENSP00000346846:R280Q;ENSP00000418335:R1480Q	ENSP00000320622:R1411Q	R	-	2	0	MYLK	124848941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.609000	0.54117	1.333000	0.45449	0.655000	0.94253	CGA		0.443	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A	rs200095645		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:123512533G>A	ENST00000475616.1	-	1	155	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000359169.1_Silent_p.F52F|MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000360772.3_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16134	0.0		0.0	False		,,,				2504	0.0				p.F52F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|breast(1)	c.C156T	3						.						41.0	42.0	42.0					3																	123512533		2203	4300	6503	124995223	SO:0001819	synonymous_variant	4638	exon4			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.156C>T	3.37:g.123512533G>A			124995223	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.602	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
MKRN2	23609	broad.mit.edu	37	3	12613702	12613702	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12613702G>A	ENST00000170447.7	+	4	609	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MKRN2_ENST00000448482.1_Missense_Mutation_p.V156M|MKRN2_ENST00000411987.1_Missense_Mutation_p.V115M	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	158					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V158M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCTTGATGACGTGGAGGCCAG	0.632																																					p.V158M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	3						.						78.0	74.0	75.0					3																	12613702		2203	4300	6503	12588702	SO:0001583	missense	23609	exon4				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.472G>A	3.37:g.12613702G>A	ENSP00000170447:p.Val158Met		12588702	NM_014160	A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	ENST00000170447.7	37	CCDS33702.1	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881769	0.17467	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.23348	2.75;1.91;1.94	5.38	-10.8	0.00216	.	1.027450	0.07693	N	0.939060	T	0.08935	0.0221	N	0.08118	0	0.09310	N	1	P;P;P	0.40834	0.73;0.73;0.73	B;B;B	0.26969	0.075;0.046;0.046	T	0.44967	-0.9293	10	0.44086	T	0.13	.	15.3426	0.74309	0.0:0.5101:0.3769:0.1131	.	115;156;158	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	M	158;115;156	ENSP00000170447:V158M;ENSP00000396340:V115M;ENSP00000397983:V156M	ENSP00000170447:V158M	V	+	1	0	MKRN2	12588702	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-3.879000	0.00344	-2.922000	0.00304	-1.289000	0.01358	GTG		0.632	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160	
KALRN	8997	broad.mit.edu	37	3	124165054	124165054	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124165054C>A	ENST00000240874.3	+	20	3511	c.3354C>A	c.(3352-3354)ttC>ttA	p.F1118L	KALRN_ENST00000460856.1_Missense_Mutation_p.F1109L|KALRN_ENST00000360013.3_Missense_Mutation_p.F1118L	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1118					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1118L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCTGCATTTCTGGACCTTGA	0.547																																					p.F1118L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3354A	3						.						114.0	105.0	108.0					3																	124165054		2203	4300	6503	125647744	SO:0001583	missense	8997	exon20			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3354C>A	3.37:g.124165054C>A	ENSP00000240874:p.Phe1118Leu		125647744	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.962154|2.962154	0.53400|0.53400	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.61510|.	0.1;0.1;0.1|.	5.22|5.22	4.34|4.34	0.51931|0.51931	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.52842|.	0.382;0.017;0.956;0.516|.	B;B;D;B|.	0.65010|.	0.206;0.016;0.931;0.373|.	T|T	0.16247|0.16247	-1.0409|-1.0409	10|5	0.10377|.	T|.	0.69|.	.|.	8.4085|8.4085	0.32629|0.32629	0.0:0.7678:0.0:0.2322|0.0:0.7678:0.0:0.2322	.|.	1109;464;1118;1118|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	L|Y	1109;1118;1118|1087	ENSP00000418611:F1109L;ENSP00000240874:F1118L;ENSP00000353109:F1118L|.	ENSP00000240874:F1118L|.	F|S	+|+	3|2	2|0	KALRN|KALRN	125647744|125647744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.571000|2.571000	0.45990|0.45990	1.428000|1.428000	0.47296|0.47296	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.547	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
MKRN2	23609	broad.mit.edu	37	3	12623704	12623704	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12623704C>T	ENST00000170447.7	+	8	1340	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MKRN2_ENST00000448482.1_Silent_p.L399L|MKRN2_ENST00000411987.1_Silent_p.L358L	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	401					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L401L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGACAGAGCTCGGGGACCTCT	0.498																																					p.L401L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1203T	3						.						156.0	155.0	155.0					3																	12623704		2203	4300	6503	12598704	SO:0001819	synonymous_variant	23609	exon8				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.1203C>T	3.37:g.12623704C>T			12598704	NM_014160	A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Silent	SNP	ENST00000170447.7	37	CCDS33702.1																																																																																				0.498	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160	
KALRN	8997	broad.mit.edu	37	3	124415014	124415014	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124415014T>C	ENST00000291478.5	+	21	2683	c.2520T>C	c.(2518-2520)aaT>aaC	p.N840N	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Silent_p.N808N|KALRN_ENST00000360013.3_Silent_p.N2537N	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2536					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N2537N(1)|p.N840N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGATCTGTAATCTGATGCCCC	0.468																																					p.N2537N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T7611C	3						.						169.0	163.0	165.0					3																	124415014		2203	4300	6503	125897704	SO:0001819	synonymous_variant	8997	exon54			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2520T>C	3.37:g.124415014T>C			125897704	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295731	0.23564	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.62	-2.88	0.05682	.	.	.	.	.	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65948	-0.6044	4	.	.	.	.	15.4624	0.75369	0.0:0.65:0.0:0.3499	.	.	.	.	T	2506	.	.	I	+	2	0	KALRN	125897704	0.840000	0.29493	0.987000	0.45799	0.987000	0.75469	0.142000	0.16096	-0.387000	0.07809	-0.290000	0.09829	ATC		0.468	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
RAF1	5894	broad.mit.edu	37	3	12626680	12626680	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12626680C>T	ENST00000251849.4	-	15	2048	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	RAF1_ENST00000442415.2_Missense_Mutation_p.V557I|RAF1_ENST00000542177.1_Missense_Mutation_p.V456I|RAF1_ENST00000534997.1_Missense_Mutation_p.V322I	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V537I(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCATACAATACGATGCCATAG	0.488			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.V537I			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1609A	3						.						97.0	80.0	85.0					3																	12626680		2203	4300	6503	12601680	SO:0001583	missense	5894	exon15	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1609G>A	3.37:g.12626680C>T	ENSP00000251849:p.Val537Ile		12601680	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133002	0.77662	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055638	0.64402	N	0.000001	D	0.98302	0.9437	N	0.10972	0.075	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.992;0.986;0.998	D	0.99924	1.1274	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	456;322;537	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	I	537;557;416;322;456	ENSP00000251849:V537I;ENSP00000401888:V557I;ENSP00000398591:V416I;ENSP00000441186:V322I;ENSP00000443567:V456I	ENSP00000251849:V537I	V	-	1	0	RAF1	12601680	1.000000	0.71417	0.985000	0.45067	0.203000	0.24098	7.646000	0.83445	2.941000	0.99782	0.655000	0.94253	GTA		0.488	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
ITGB5	3693	broad.mit.edu	37	3	124527970	124527970	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124527970C>A	ENST00000296181.4	-	9	1458	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	388					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.D388Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCAGGCTGATCCCAGACTGAC	0.488																																					p.D388Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1162T	3						.						112.0	110.0	110.0					3																	124527970		2203	4300	6503	126010660	SO:0001583	missense	3693	exon9			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1162G>T	3.37:g.124527970C>A	ENSP00000296181:p.Asp388Tyr		126010660	NM_002213	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.813421|4.813421	0.90790|0.90790	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000296181|ENST00000496703	D|.	0.93019|.	-3.15|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Integrin beta subunit, N-terminal (2);|.	0.055265|.	0.64402|.	D|.	0.000001|.	T|T	0.72969|0.72969	0.3527|0.3527	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.76071|.	0.987|.	T|T	0.69587|0.69587	-0.5105|-0.5105	10|5	0.66056|.	D|.	0.02|.	.|.	19.2722|19.2722	0.94015|0.94015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	388|.	P18084|.	ITB5_HUMAN|.	Y|V	388|154	ENSP00000296181:D388Y|.	ENSP00000296181:D388Y|.	D|G	-|-	1|2	0|0	ITGB5|ITGB5	126010660|126010660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.292000|5.292000	0.65673|0.65673	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.488	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
HEG1	57493	broad.mit.edu	37	3	124689532	124689532	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124689532G>T	ENST00000311127.4	-	17	4177	c.4110C>A	c.(4108-4110)ttC>ttA	p.F1370L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1370					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.F1370L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CATCACTGATGAAAGACGGGT	0.517																																					p.F1370L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4110A	3						.						95.0	89.0	91.0					3																	124689532		1901	4118	6019	126172222	SO:0001583	missense	57493	exon17			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.4110C>A	3.37:g.124689532G>T	ENSP00000311502:p.Phe1370Leu		126172222	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481551	0.96307	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.96522	-4.04;0.02	5.58	5.58	0.84498	.	0.000000	0.40818	U	0.001012	D	0.96694	0.8921	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.97746	1.0211	10	0.87932	D	0	.	19.5717	0.95423	0.0:0.0:1.0:0.0	.	1370	Q9ULI3	HEG1_HUMAN	L	1370;254	ENSP00000311502:F1370L;ENSP00000417648:F254L	ENSP00000311502:F1370L	F	-	3	2	HEG1	126172222	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.038000	0.64177	2.644000	0.89710	0.655000	0.94253	TTC		0.517	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
RAF1	5894	broad.mit.edu	37	3	12650355	12650355	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12650355C>T	ENST00000251849.4	-	5	930	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	RAF1_ENST00000442415.2_Missense_Mutation_p.R164Q|RAF1_ENST00000542177.1_Missense_Mutation_p.R83Q|RAF1_ENST00000534997.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	164					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R164Q(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGTCTGACATCGAAATCCATT	0.433			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.R164Q			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	3						.						121.0	107.0	112.0					3																	12650355		2203	4300	6503	12625355	SO:0001583	missense	5894	exon5	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.491G>A	3.37:g.12650355C>T	ENSP00000251849:p.Arg164Gln		12625355	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256163	0.80246	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000542177	D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09	5.52	4.65	0.58169	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.126719	0.53938	D	0.000050	D	0.91310	0.7260	L	0.33137	0.985	0.80722	D	1	D;D	0.62365	0.978;0.991	P;P	0.54210	0.745;0.73	D	0.91862	0.5500	10	0.62326	D	0.03	.	14.3149	0.66443	0.0:0.9288:0.0:0.0712	.	83;164	B4E0X2;P04049	.;RAF1_HUMAN	Q	164;164;76;83	ENSP00000251849:R164Q;ENSP00000401888:R164Q;ENSP00000398591:R76Q;ENSP00000443567:R83Q	ENSP00000251849:R164Q	R	-	2	0	RAF1	12625355	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.813000	0.86123	1.352000	0.45808	-0.251000	0.11542	CGA		0.433	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
HEG1	57493	broad.mit.edu	37	3	124732486	124732486	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124732486G>A	ENST00000311127.4	-	6	2004	c.1937C>T	c.(1936-1938)tCg>tTg	p.S646L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	646	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S646L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGAACAACCGAAGTGTTCGG	0.517																																					p.S646L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1937T	3						.						78.0	86.0	83.0					3																	124732486		2172	4270	6442	126215176	SO:0001583	missense	57493	exon6			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1937C>T	3.37:g.124732486G>A	ENSP00000311502:p.Ser646Leu		126215176	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696095	0.30052	.	.	ENSG00000173706	ENST00000311127	D	0.88431	-2.38	5.3	-0.773	0.10995	.	1.526370	0.05577	N	0.572204	T	0.72447	0.3461	N	0.01668	-0.77	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.001	T	0.60692	-0.7213	10	0.46703	T	0.11	.	8.5588	0.33498	0.5612:0.0:0.4388:0.0	.	646;646	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	646	ENSP00000311502:S646L	ENSP00000311502:S646L	S	-	2	0	HEG1	126215176	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	0.115000	0.15540	-0.252000	0.09528	-0.253000	0.11424	TCG		0.517	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
ZNF148	7707	broad.mit.edu	37	3	124951567	124951567	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:124951567C>A	ENST00000360647.4	-	9	2488	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R668I|ZNF148_ENST00000485866.1_Missense_Mutation_p.R668I|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.R668I|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	668					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R668I(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGGAGTTGTTCTTAGTGGAGA	0.453																																					p.R668I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2003T	3						.						189.0	177.0	181.0					3																	124951567		2203	4300	6503	126434257	SO:0001583	missense	7707	exon9			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2003G>T	3.37:g.124951567C>A	ENSP00000353863:p.Arg668Ile		126434257	NM_021964	D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462561	0.63513	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66781	0.2824	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.64841	-0.6312	10	0.45353	T	0.12	-17.0314	19.0462	0.93020	0.0:1.0:0.0:0.0	.	668	Q9UQR1	ZN148_HUMAN	I	668	ENSP00000353863:R668I;ENSP00000420335:R668I;ENSP00000419322:R668I;ENSP00000420448:R668I	ENSP00000353863:R668I	R	-	2	0	ZNF148	126434257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.732000	0.93576	0.591000	0.81541	AGA		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964	
OSBPL11	114885	broad.mit.edu	37	3	125266271	125266271	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125266271A>C	ENST00000296220.5	-	10	2109	c.1820T>G	c.(1819-1821)tTt>tGt	p.F607C		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	607					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.F607C(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GCCACCATAAAATGGCTTGGT	0.368																																					p.F607C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1820G	3						.						129.0	121.0	124.0					3																	125266271		2203	4300	6503	126748961	SO:0001583	missense	114885	exon10			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1820T>G	3.37:g.125266271A>C	ENSP00000296220:p.Phe607Cys		126748961	NM_022776	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003653	0.74932	.	.	ENSG00000144909	ENST00000296220	T	0.31247	1.5	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74725	-0.3568	10	0.87932	D	0	-16.3255	14.431	0.67251	1.0:0.0:0.0:0.0	.	607	Q9BXB4	OSB11_HUMAN	C	607	ENSP00000296220:F607C	ENSP00000296220:F607C	F	-	2	0	OSBPL11	126748961	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	8.821000	0.92009	1.997000	0.58415	0.383000	0.25322	TTT		0.368	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
OSBPL11	114885	broad.mit.edu	37	3	125295035	125295035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125295035C>A	ENST00000296220.5	-	5	953	c.664G>T	c.(664-666)Gaa>Taa	p.E222*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	222					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.E222*(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATACTTACTTCTCTGACTTCC	0.333																																					p.E222X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G664T	3						.						121.0	127.0	125.0					3																	125295035		2203	4300	6503	126777725	SO:0001587	stop_gained	114885	exon5			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.664G>T	3.37:g.125295035C>A	ENSP00000296220:p.Glu222*		126777725	NM_022776	A8K9I7	Nonsense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	40	8.034414	0.98621	.	.	ENSG00000144909	ENST00000296220	.	.	.	4.91	4.91	0.64330	.	0.391862	0.28135	N	0.016480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-17.8889	18.2815	0.90099	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000296220:E222X	E	-	1	0	OSBPL11	126777725	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.250000	0.72435	2.544000	0.85801	0.557000	0.71058	GAA		0.333	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
ROPN1B	152015	broad.mit.edu	37	3	125694436	125694436	+	Silent	SNP	G	G	A	rs368373364		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125694436G>A	ENST00000514116.1	+	4	462	c.147G>A	c.(145-147)acG>acA	p.T49T	ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000251776.4_Silent_p.T49T|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	49	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)	p.T49T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GTGGAGAGACGCCTCCGGTGA	0.522																																					p.T49T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	3						.	G		0,4406		0,0,2203	73.0	71.0	71.0		147	-0.3	1.0	3		71	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ROPN1B	NM_001012337.1		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		49/213	125694436	1,13001	2203	4298	6501	127177126	SO:0001819	synonymous_variant	152015	exon3			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.147G>A	3.37:g.125694436G>A			127177126	NM_001012337	D3DNA6|Q96BM7	Silent	SNP	ENST00000514116.1	37	CCDS33841.1																																																																																				0.522	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1	NM_001012337	
ALDH1L1	10840	broad.mit.edu	37	3	125822642	125822642	+	Missense_Mutation	SNP	C	C	T	rs550440307	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125822642C>T	ENST00000393434.2	-	23	3050	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	ALDH1L1-AS1_ENST00000512384.1_RNA|SLC41A3_ENST00000508835.1_5'Flank|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E800K|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E901K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E911K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	901	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.E901K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTCAGTATTCGAAGGTCACT	0.597																																					p.E901K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2701A	3						.						74.0	66.0	69.0					3																	125822642		2203	4300	6503	127305332	SO:0001583	missense	10840	exon23			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2701G>A	3.37:g.125822642C>T	ENSP00000377083:p.Glu901Lys		127305332	NM_012190	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998654	0.74818	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.7	4.7	0.59300	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	T	0.08403	0.0209	N	0.01250	-0.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.59473	-0.7448	10	0.19147	T	0.46	.	15.1526	0.72713	0.0:1.0:0.0:0.0	.	800;901	E9PBX3;O75891	.;AL1L1_HUMAN	K	911;901;800;901	ENSP00000273450:E911K;ENSP00000420293:E901K;ENSP00000395881:E800K;ENSP00000377083:E901K	ENSP00000273450:E911K	E	-	1	0	ALDH1L1	127305332	1.000000	0.71417	0.930000	0.37139	0.551000	0.35334	5.964000	0.70379	2.433000	0.82419	0.573000	0.79308	GAA		0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	
ALDH1L1	10840	broad.mit.edu	37	3	125856771	125856771	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125856771C>G	ENST00000393434.2	-	10	1458	c.1109G>C	c.(1108-1110)gGc>gCc	p.G370A	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.G370A|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G370A|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G380A|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G269A	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	370	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G370A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TAACTCCAGGCCATCACACAG	0.567																																					p.G370A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1109C	3						.						131.0	109.0	116.0					3																	125856771		2203	4300	6503	127339461	SO:0001583	missense	10840	exon10			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1109G>C	3.37:g.125856771C>G	ENSP00000377083:p.Gly370Ala		127339461	NM_012190	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413164	0.42817	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	4.4	4.4	0.53042	Acyl carrier protein-like (3);Phosphopantetheine-binding (1);	0.178693	0.48767	D	0.000167	T	0.55529	0.1926	M	0.70595	2.14	0.41941	D	0.990617	P;B;B	0.42456	0.78;0.368;0.368	B;B;B	0.41894	0.369;0.292;0.292	T	0.64664	-0.6354	10	0.62326	D	0.03	.	14.8647	0.70406	0.0:1.0:0.0:0.0	.	269;422;370	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	A	380;370;269;370;370	ENSP00000273450:G380A;ENSP00000420293:G370A;ENSP00000395881:G269A;ENSP00000377083:G370A;ENSP00000377081:G370A	ENSP00000273450:G380A	G	-	2	0	ALDH1L1	127339461	0.242000	0.23868	0.956000	0.39512	0.914000	0.54420	1.420000	0.34804	2.432000	0.82394	0.650000	0.86243	GGC		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	
CCDC37	348807	broad.mit.edu	37	3	126152014	126152014	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:126152014C>A	ENST00000352312.1	+	14	1488	c.1389C>A	c.(1387-1389)gtC>gtA	p.V463V	CCDC37_ENST00000505024.1_Silent_p.V464V|CCDC37_ENST00000393425.1_Silent_p.V464V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	463								p.V463V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGCCCGAGTCTTCCACTTCG	0.597																																					p.V463V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1389A	3						.						130.0	120.0	123.0					3																	126152014		2203	4300	6503	127634704	SO:0001819	synonymous_variant	348807	exon14			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1389C>A	3.37:g.126152014C>A			127634704	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																				0.597	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
RPL32	6161	broad.mit.edu	37	3	12877668	12877668	+	Silent	SNP	G	G	A	rs574066569		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:12877668G>A	ENST00000429711.2	-	4	432	c.333C>T	c.(331-333)atC>atT	p.I111I	RPL32_ENST00000273223.6_Silent_p.I129I|RPL32_ENST00000396953.2_Silent_p.I111I|RPL32_ENST00000435983.1_Silent_p.I111I|RPL32_ENST00000396957.1_Silent_p.I111I	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	111					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I111I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTTTCCACGATGGCTTTGC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		22599	0.0		0.0	False		,,,				2504	0.001				p.I111I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	3						.						74.0	66.0	69.0					3																	12877668		2203	4297	6500	12852668	SO:0001819	synonymous_variant	6161	exon4			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"""L ribosomal proteins"""	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.333C>T	3.37:g.12877668G>A			12852668	NM_001007073	B2R4Q3|P02433	Silent	SNP	ENST00000429711.2	37	CCDS2614.1																																																																																				0.507	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252032.2	NM_000994	
UROC1	131669	broad.mit.edu	37	3	126208173	126208173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:126208173C>T	ENST00000290868.2	-	17	1707	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	UROC1_ENST00000383579.3_Missense_Mutation_p.D612N	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	552					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)	p.D552N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAGGGGCTGTCGGTGCCGCTC	0.537																																					p.D552N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1654A	3						.						147.0	136.0	140.0					3																	126208173		2203	4300	6503	127690863	SO:0001583	missense	131669	exon17			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1654G>A	3.37:g.126208173C>T	ENSP00000290868:p.Asp552Asn		127690863	NM_144639	E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854741	0.91355	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.45668	0.89;0.89	4.59	4.59	0.56863	Urocanase domain (2);Urocanase conserved site (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.83202	-0.0078	10	0.87932	D	0	-10.501	15.247	0.73513	0.0:1.0:0.0:0.0	.	612;552	E9PE13;Q96N76	.;HUTU_HUMAN	N	552;612	ENSP00000290868:D552N;ENSP00000373073:D612N	ENSP00000290868:D552N	D	-	1	0	UROC1	127690863	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	6.781000	0.75068	2.247000	0.74100	0.491000	0.48974	GAC		0.537	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
MCM2	4171	broad.mit.edu	37	3	127325639	127325639	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127325639C>A	ENST00000265056.7	+	6	1324	c.1080C>A	c.(1078-1080)ccC>ccA	p.P360P		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	360					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.P360P(1)		ovary(3)|skin(2)|stomach(1)	6						CGGCCGGCCCCTTTGAGGTCA	0.587																																					p.P360P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080A	3						.						59.0	65.0	63.0					3																	127325639		2203	4300	6503	128808329	SO:0001819	synonymous_variant	4171	exon6			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1080C>A	3.37:g.127325639C>A			128808329	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.825011	0.16678	.	.	ENSG00000073111	ENST00000491422	T	0.29397	1.57	5.0	2.84	0.33178	.	0.100706	0.64402	D	0.000001	T	0.41558	0.1164	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34825	-0.9813	7	0.87932	D	0	-35.8539	8.2589	0.31773	0.0:0.6554:0.1282:0.2164	.	.	.	.	H	223	ENSP00000420528:P223H	ENSP00000420528:P223H	P	+	2	0	MCM2	128808329	0.812000	0.29077	1.000000	0.80357	0.761000	0.43186	0.007000	0.13174	1.089000	0.41292	0.591000	0.81541	CCT		0.587	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
PODXL2	50512	broad.mit.edu	37	3	127379460	127379460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127379460G>T	ENST00000342480.6	+	3	628	c.589G>T	c.(589-591)Gaa>Taa	p.E197*		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	197	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.E197*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TGGATCCCAAGAAGAAGCCAA	0.572																																					p.E197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G589T	3						.						94.0	106.0	102.0					3																	127379460		2203	4300	6503	128862150	SO:0001587	stop_gained	50512	exon3			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.589G>T	3.37:g.127379460G>T	ENSP00000345359:p.Glu197*		128862150	NM_015720	Q6UVY4|Q8WUV6	Nonsense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104116	0.56291	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	.	.	.	4.28	4.28	0.50868	.	0.196900	0.34828	N	0.003659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-14.2766	8.5298	0.33326	0.1086:0.0:0.8914:0.0	.	.	.	.	X	197	.	ENSP00000304498:E197X	E	+	1	0	PODXL2	128862150	1.000000	0.71417	0.083000	0.20561	0.485000	0.33311	3.636000	0.54317	2.095000	0.63458	0.491000	0.48974	GAA		0.572	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
PODXL2	50512	broad.mit.edu	37	3	127390334	127390334	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127390334C>T	ENST00000342480.6	+	7	1522	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ABTB1_ENST00000393363.3_5'Flank|ABTB1_ENST00000468137.1_5'Flank|ABTB1_ENST00000232744.8_5'Flank|ABTB1_ENST00000453791.2_5'Flank	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	495					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)	p.R495C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGCCAGGTGCGCAGCGACTA	0.627																																					p.R495C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1483T	3						.						87.0	77.0	81.0					3																	127390334		2203	4300	6503	128873024	SO:0001583	missense	50512	exon7			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.1483C>T	3.37:g.127390334C>T	ENSP00000345359:p.Arg495Cys		128873024	NM_015720	Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301983	0.81136	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.27256	1.68	4.08	4.08	0.47627	.	0.067107	0.64402	D	0.000010	T	0.46964	0.1420	L	0.54323	1.7	0.49687	D	0.999815	D	0.89917	1.0	D	0.87578	0.998	T	0.52041	-0.8628	10	0.87932	D	0	-14.8574	16.3425	0.83092	0.0:1.0:0.0:0.0	.	495	Q9NZ53	PDXL2_HUMAN	C	495;420	ENSP00000345359:R495C	ENSP00000304498:R420C	R	+	1	0	PODXL2	128873024	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.149000	0.64863	1.838000	0.53458	0.289000	0.19496	CGC		0.627	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720	
MGLL	11343	broad.mit.edu	37	3	127500709	127500709	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127500709C>T	ENST00000434178.2	-	3	1051	c.155G>A	c.(154-156)gGa>gAa	p.G52E	MGLL_ENST00000398104.1_Missense_Mutation_p.G52E|MGLL_ENST00000265052.5_Missense_Mutation_p.G62E|MGLL_ENST00000453507.2_Missense_Mutation_p.G62E			Q99685	MGLL_HUMAN	monoglyceride lipase	52					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)	p.G52E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						ACTGTGCTCTCCGGCTCCATG	0.627																																					p.G62E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	3						.						47.0	49.0	49.0					3																	127500709		2047	4193	6240	128983399	SO:0001583	missense	11343	exon3			BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.155G>A	3.37:g.127500709C>T	ENSP00000402798:p.Gly52Glu		128983399	NM_007283	B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.782096	0.49891	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.73575	-0.76;-0.76;-0.76;0.62	5.19	3.35	0.38373	.	0.049719	0.85682	D	0.000000	D	0.89501	0.6733	H	0.96269	3.795	0.58432	D	0.999992	P;P;D;D	0.76494	0.95;0.95;0.999;0.991	D;D;D;D	0.91635	0.95;0.962;0.999;0.997	D	0.90635	0.4570	10	0.87932	D	0	-17.0391	11.9129	0.52749	0.0:0.6618:0.3382:0.0	.	62;52;52;62	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	E	52;62;52;62;62;52	ENSP00000402798:G52E;ENSP00000265052:G62E;ENSP00000381176:G52E;ENSP00000417489:G52E	ENSP00000265052:G62E	G	-	2	0	MGLL	128983399	0.993000	0.37304	0.456000	0.27044	0.139000	0.21198	2.755000	0.47540	0.544000	0.28883	-0.463000	0.05309	GGA		0.627	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283	
KBTBD12	166348	broad.mit.edu	37	3	127642473	127642473	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127642473G>T	ENST00000405109.1	+	2	1036	c.569G>T	c.(568-570)aGa>aTa	p.R190I	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R190I|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	190	BACK.							p.R190I(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AACATATCCAGAGAAGAGAGC	0.373																																					p.R190I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G569T	3						.						54.0	50.0	51.0					3																	127642473		1867	4102	5969	129125163	SO:0001583	missense	166348	exon1				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.569G>T	3.37:g.127642473G>T	ENSP00000385957:p.Arg190Ile		129125163	NM_207335	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.642971	0.67244	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.69306	-0.39;-0.39	5.75	5.75	0.90469	BTB/Kelch-associated (2);	.	.	.	.	D	0.82889	0.5135	M	0.79475	2.455	0.52501	D	0.999957	D	0.76494	0.999	D	0.71184	0.972	D	0.83939	0.0310	9	0.72032	D	0.01	.	19.9569	0.97222	0.0:0.0:1.0:0.0	.	190	Q3ZCT8	KBTBC_HUMAN	I	190	ENSP00000385957:R190I;ENSP00000385879:R190I	ENSP00000385957:R190I	R	+	2	0	KBTBD12	129125163	1.000000	0.71417	0.854000	0.33618	0.974000	0.67602	5.258000	0.65479	2.729000	0.93468	0.460000	0.39030	AGA		0.373	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
KBTBD12	166348	broad.mit.edu	37	3	127646659	127646659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127646659C>T	ENST00000405109.1	+	3	1590	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	KBTBD12_ENST00000343941.4_Silent_p.F16F|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000405256.1_Nonsense_Mutation_p.R375*|KBTBD12_ENST00000407609.3_5'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	375								p.R375*(1)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGCTGAATTTCGAGAACTCTA	0.363																																					p.R375X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1123T	3						.						148.0	154.0	152.0					3																	127646659		2203	4300	6503	129129349	SO:0001587	stop_gained	166348	exon2				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1123C>T	3.37:g.127646659C>T	ENSP00000385957:p.Arg375*		129129349	NM_207335	B5MCC6|Q6ZRK1	Nonsense_Mutation	SNP	ENST00000405109.1	37	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	37	6.363783	0.97507	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	375	.	ENSP00000385957:R375X	R	+	1	2	KBTBD12	129129349	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.403000	0.79983	2.731000	0.93534	0.591000	0.81541	CGA		0.363	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335	
RUVBL1	8607	broad.mit.edu	37	3	127800173	127800173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127800173C>T	ENST00000322623.5	-	11	1390	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	RUVBL1-AS1_ENST00000485218.1_RNA|RUVBL1_ENST00000417360.1_3'UTR|RUVBL1_ENST00000480616.1_5'Flank|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	431					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.E431K(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGATCTCTTCGACATGCTCT	0.507																																					p.E431K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1291A	3						.						169.0	151.0	157.0					3																	127800173		2203	4300	6503	129282863	SO:0001583	missense	8607	exon11			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1291G>A	3.37:g.127800173C>T	ENSP00000318297:p.Glu431Lys		129282863	NM_003707	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483417	0.44147	.	.	ENSG00000175792	ENST00000322623;ENST00000478892	T	0.62941	-0.01	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.59967	1.855	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.57075	-0.7873	10	0.08179	T	0.78	-33.4611	18.8651	0.92289	0.0:1.0:0.0:0.0	.	431	Q9Y265	RUVB1_HUMAN	K	431;242	ENSP00000318297:E431K	ENSP00000318297:E431K	E	-	1	0	RUVBL1	129282863	1.000000	0.71417	0.904000	0.35570	0.513000	0.34164	5.799000	0.69101	2.445000	0.82738	0.591000	0.81541	GAA		0.507	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
RUVBL1	8607	broad.mit.edu	37	3	127801415	127801415	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127801415G>A	ENST00000322623.5	-	10	1221	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	RUVBL1_ENST00000417360.1_Intron|RUVBL1_ENST00000480616.1_5'Flank|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	374					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.I374I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGATTTTAATGATCTTTTAAA	0.458																																					p.I374I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122T	3						.						107.0	81.0	90.0					3																	127801415		2203	4300	6503	129284105	SO:0001819	synonymous_variant	8607	exon10			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1122C>T	3.37:g.127801415G>A			129284105	NM_003707	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	ENST00000322623.5	37	CCDS3047.1																																																																																				0.458	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
EEFSEC	60678	broad.mit.edu	37	3	127981061	127981061	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:127981061C>A	ENST00000254730.6	+	3	669	c.615C>A	c.(613-615)ctC>ctA	p.L205L	EEFSEC_ENST00000483457.1_Silent_p.L205L	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	205	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.L205L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TTCCAGAGCTCATTGAGGTAC	0.592																																					p.L205L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615A	3						.						78.0	87.0	84.0					3																	127981061		2203	4300	6503	129463751	SO:0001819	synonymous_variant	60678	exon3				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.615C>A	3.37:g.127981061C>A			129463751	NM_021937	Q96HZ6	Silent	SNP	ENST00000254730.6	37	CCDS33849.1																																																																																				0.592	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
DNAJB8	165721	broad.mit.edu	37	3	128181439	128181439	+	Missense_Mutation	SNP	G	G	A	rs200292314		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:128181439G>A	ENST00000469083.1	-	2	3207	c.650C>T	c.(649-651)tCg>tTg	p.S217L	DNAJB8_ENST00000319153.3_Missense_Mutation_p.S217L|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	217					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)	p.S217L(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CACAGTCACCGACTTGAGCTG	0.627																																					p.S217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	3						.	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	173.0	137.0	149.0		650	4.6	0.9	3		149	0,8600		0,0,4300	no	missense	DNAJB8	NM_153330.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	217/233	128181439	1,13005	2203	4300	6503	129664129	SO:0001583	missense	165721	exon3				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.650C>T	3.37:g.128181439G>A	ENSP00000417418:p.Ser217Leu		129664129	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332824	0.81801	2.27E-4	0.0	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.63096	-0.02;-0.02	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86461	0.1779	10	0.54805	T	0.06	.	17.3637	0.87358	0.0:0.0:1.0:0.0	.	217	Q8NHS0	DNJB8_HUMAN	L	217	ENSP00000417418:S217L;ENSP00000316053:S217L	ENSP00000316053:S217L	S	-	2	0	DNAJB8	129664129	1.000000	0.71417	0.938000	0.37757	0.448000	0.32197	7.047000	0.76599	2.093000	0.63338	0.555000	0.69702	TCG		0.627	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	C	A	rs376957597	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:128706495C>A	ENST00000265068.5	-	4	798	c.631G>T	c.(631-633)Ggc>Tgc	p.G211C	KIAA1257_ENST00000515659.1_Missense_Mutation_p.G99C|KIAA1257_ENST00000511438.1_Missense_Mutation_p.G211C|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	211								p.G211C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393																																					p.G211C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631T	3						.						137.0	134.0	135.0					3																	128706495		1848	4079	5927	130189185	SO:0001583	missense	57501	exon4			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.631G>T	3.37:g.128706495C>A	ENSP00000265068:p.Gly211Cys		130189185	NM_020741	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421014	0.25639	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.13	1.18	0.20946	.	1.276940	0.05705	N	0.594801	T	0.23572	0.0570	N	0.19112	0.55	0.09310	N	1	B;B	0.25667	0.131;0.131	B;B	0.27380	0.079;0.079	T	0.28586	-1.0039	9	0.37606	T	0.19	-1.7784	4.2781	0.10818	0.1632:0.5601:0.0:0.2768	.	211;211	Q9ULG3;D6RH05	K1257_HUMAN;.	C	211;211;99	.	ENSP00000265068:G211C	G	-	1	0	KIAA1257	130189185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.417000	0.07088	0.258000	0.21686	-0.225000	0.12378	GGC		0.393	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741	
COPG1	22820	broad.mit.edu	37	3	128982792	128982792	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:128982792C>A	ENST00000314797.6	+	13	1278	c.1174C>A	c.(1174-1176)Cgc>Agc	p.R392S		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	392					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.R392S(1)									GAAATATCCTCGCAAACACGC	0.557																																					p.R392S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1174A	3						.						131.0	106.0	114.0					3																	128982792		2203	4300	6503	130465482	SO:0001583	missense	22820	exon13			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1174C>A	3.37:g.128982792C>A	ENSP00000325002:p.Arg392Ser		130465482	NM_016128	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.716661	0.30413	.	.	ENSG00000181789	ENST00000314797	T	0.11385	2.78	5.95	5.95	0.96441	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.42744	1.35	0.58432	D	0.99999	D	0.64830	0.994	D	0.76575	0.988	T	0.01993	-1.1233	10	0.09338	T	0.73	-23.0508	17.887	0.88858	0.0:1.0:0.0:0.0	.	392	Q9Y678	COPG_HUMAN	S	392	ENSP00000325002:R392S	ENSP00000325002:R392S	R	+	1	0	COPG	130465482	1.000000	0.71417	0.998000	0.56505	0.113000	0.19764	4.810000	0.62598	2.824000	0.97209	0.655000	0.94253	CGC		0.557	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
COPG1	22820	broad.mit.edu	37	3	128984448	128984448	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:128984448G>A	ENST00000314797.6	+	14	1385	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	427					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E427E(1)									TCATTGAAGAGAACTCAGAGA	0.542																																					p.E427E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1281A	3						.						169.0	143.0	151.0					3																	128984448		2203	4300	6503	130467138	SO:0001819	synonymous_variant	22820	exon14			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1281G>A	3.37:g.128984448G>A			130467138	NM_016128	A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	CCDS33851.1																																																																																				0.542	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
COPG1	22820	broad.mit.edu	37	3	128985910	128985910	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:128985910G>T	ENST00000314797.6	+	15	1616	c.1512G>T	c.(1510-1512)gaG>gaT	p.E504D		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	504					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E504D(1)									AGAATGAAGAGATGTTACCCA	0.512																																					p.E504D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1512T	3						.						229.0	195.0	207.0					3																	128985910		2203	4300	6503	130468600	SO:0001583	missense	22820	exon15			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1512G>T	3.37:g.128985910G>T	ENSP00000325002:p.Glu504Asp		130468600	NM_016128	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	0.352	-0.944230	0.02322	.	.	ENSG00000181789	ENST00000314797	T	0.14266	2.52	6.17	0.238	0.15480	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.071627	0.56097	D	0.000022	T	0.04861	0.0131	N	0.05414	-0.055	0.31592	N	0.65382	B	0.02656	0.0	B	0.04013	0.001	T	0.36237	-0.9756	10	0.14252	T	0.57	-33.6489	5.1891	0.15199	0.1852:0.0:0.2255:0.5893	.	504	Q9Y678	COPG_HUMAN	D	504	ENSP00000325002:E504D	ENSP00000325002:E504D	E	+	3	2	COPG	130468600	1.000000	0.71417	0.004000	0.12327	0.007000	0.05969	1.227000	0.32576	0.095000	0.17434	-0.274000	0.10170	GAG		0.512	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
IFT122	55764	broad.mit.edu	37	3	129218893	129218893	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129218893A>G	ENST00000348417.2	+	19	2434	c.2357A>G	c.(2356-2358)gAc>gGc	p.D786G	IFT122_ENST00000504021.1_Missense_Mutation_p.D662G|IFT122_ENST00000347300.2_Missense_Mutation_p.D727G|IFT122_ENST00000431818.2_Missense_Mutation_p.D636G|IFT122_ENST00000349441.2_Missense_Mutation_p.D675G|IFT122_ENST00000507564.1_Missense_Mutation_p.D778G|IFT122_ENST00000440957.2_Missense_Mutation_p.D577G|IFT122_ENST00000296266.3_Missense_Mutation_p.D837G|IFT122_ENST00000513932.1_3'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	786					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.D837G(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATCTGTGGTGACCATGGCTGG	0.527																																					p.D675G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2024G	3						.						186.0	156.0	166.0					3																	129218893		2203	4300	6503	130701583	SO:0001583	missense	55764	exon16			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2357A>G	3.37:g.129218893A>G	ENSP00000324005:p.Asp786Gly		130701583	NM_052990	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637528	0.47049	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.61040	0.78;0.14;0.27;0.33;0.93;0.92;0.78;0.33;0.92	5.33	4.18	0.49190	.	0.322570	0.36101	N	0.002783	T	0.50684	0.1630	L	0.50333	1.59	0.41965	D	0.990723	B;B;B;B;B;B;B;B;B;B	0.25390	0.034;0.043;0.055;0.125;0.019;0.019;0.019;0.032;0.02;0.034	B;B;B;B;B;B;B;B;B;B	0.25614	0.022;0.047;0.033;0.062;0.017;0.017;0.017;0.038;0.01;0.036	T	0.50162	-0.8860	10	0.59425	D	0.04	-7.7428	10.2989	0.43639	0.921:0.0:0.079:0.0	.	577;112;778;173;662;626;675;727;786;837	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	G	727;837;778;727;636;662;675;786;626;577;283;148	ENSP00000323973:D727G;ENSP00000296266:D837G;ENSP00000425536:D778G;ENSP00000410946:D636G;ENSP00000422179:D662G;ENSP00000324165:D675G;ENSP00000324005:D786G;ENSP00000401569:D577G;ENSP00000424727:D283G	ENSP00000296266:D837G	D	+	2	0	IFT122	130701583	1.000000	0.71417	0.927000	0.36925	0.883000	0.51084	5.960000	0.70348	0.875000	0.35847	0.533000	0.62120	GAC		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
IFT122	55764	broad.mit.edu	37	3	129223182	129223182	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129223182G>T	ENST00000348417.2	+	21	2645	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	IFT122_ENST00000504021.1_Missense_Mutation_p.K732N|IFT122_ENST00000347300.2_Missense_Mutation_p.K797N|IFT122_ENST00000431818.2_Missense_Mutation_p.K706N|IFT122_ENST00000349441.2_Missense_Mutation_p.K745N|IFT122_ENST00000507564.1_Missense_Mutation_p.K848N|IFT122_ENST00000440957.2_Missense_Mutation_p.K647N|IFT122_ENST00000296266.3_Missense_Mutation_p.K907N	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	856					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.K907N(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGGTGAGAAGCATCCTGAGT	0.493																																					p.K745N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2235T	3						.						134.0	129.0	131.0					3																	129223182		2203	4300	6503	130705872	SO:0001583	missense	55764	exon18			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2568G>T	3.37:g.129223182G>T	ENSP00000324005:p.Lys856Asn		130705872	NM_052990	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033699	0.54896	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522	T;T;T;T;T;T;T;T;T	0.62232	0.7;0.04;0.18;0.25;0.82;0.85;0.68;1.55;0.8	5.44	4.56	0.56223	.	0.098275	0.64402	D	0.000001	T	0.74298	0.3698	L	0.57536	1.79	0.80722	D	1	D;P;D;B;B;B;B;B;D;D	0.71674	0.996;0.481;0.994;0.318;0.04;0.086;0.086;0.037;0.997;0.998	P;B;D;B;B;B;B;B;P;D	0.74348	0.866;0.287;0.983;0.18;0.022;0.035;0.035;0.111;0.879;0.943	T	0.74487	-0.3649	10	0.44086	T	0.13	-28.592	14.0395	0.64665	0.073:0.0:0.927:0.0	.	647;182;848;243;732;696;745;797;856;907	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	N	797;907;848;797;706;732;745;856;696;647;353	ENSP00000323973:K797N;ENSP00000296266:K907N;ENSP00000425536:K848N;ENSP00000410946:K706N;ENSP00000422179:K732N;ENSP00000324165:K745N;ENSP00000324005:K856N;ENSP00000401569:K647N;ENSP00000424727:K353N	ENSP00000296266:K907N	K	+	3	2	IFT122	130705872	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.692000	0.54727	1.284000	0.44531	0.655000	0.94253	AAG		0.493	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	
RHO	6010	broad.mit.edu	37	3	129247623	129247623	+	Missense_Mutation	SNP	C	C	T	rs201340914		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129247623C>T	ENST00000296271.3	+	1	141	c.47C>T	c.(46-48)gCg>gTg	p.A16V		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	16					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.A16V(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TTCTCCAATGCGACGGGTGTG	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0				p.A16V	Esophageal Squamous(118;214 1623 30842 43234 46940)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C47T	3						.						109.0	94.0	99.0					3																	129247623		2203	4300	6503	130730313	SO:0001583	missense	6010	exon1			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.47C>T	3.37:g.129247623C>T	ENSP00000296271:p.Ala16Val		130730313	NM_000539	Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	CCDS3063.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.24	2.476688	0.44044	.	.	ENSG00000163914	ENST00000296271	D	0.93659	-3.26	5.51	0.299	0.15771	Rhodopsin, N-terminal (1);	0.910652	0.09514	N	0.791886	D	0.86715	0.5999	L	0.32530	0.975	0.23174	N	0.998174	B	0.15473	0.013	B	0.09377	0.004	T	0.74041	-0.3792	10	0.51188	T	0.08	.	3.4769	0.07587	0.6275:0.1583:0.1065:0.1077	.	16	P08100	OPSD_HUMAN	V	16	ENSP00000296271:A16V	ENSP00000296271:A16V	A	+	2	0	RHO	130730313	0.998000	0.40836	0.141000	0.22245	0.988000	0.76386	0.855000	0.27805	-0.182000	0.10602	0.585000	0.79938	GCG		0.587	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539	
RHO	6010	broad.mit.edu	37	3	129251528	129251528	+	Silent	SNP	C	C	T	rs377120794		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129251528C>T	ENST00000296271.3	+	4	943	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	283					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.F283F(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GCTCCAACTTCGGTCCCATCT	0.547																																					p.F283F	Esophageal Squamous(118;214 1623 30842 43234 46940)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C849T	3						.	C		0,4406		0,0,2203	187.0	157.0	167.0		849	-2.1	1.0	3		167	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RHO	NM_000539.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		283/349	129251528	1,13005	2203	4300	6503	130734218	SO:0001819	synonymous_variant	6010	exon4			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.849C>T	3.37:g.129251528C>T			130734218	NM_000539	Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	CCDS3063.1																																																																																				0.547	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539	
PLXND1	23129	broad.mit.edu	37	3	129289977	129289977	+	Missense_Mutation	SNP	C	C	T	rs200890421		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129289977C>T	ENST00000324093.4	-	18	3684	c.3506G>A	c.(3505-3507)cGc>cAc	p.R1169H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1169H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1169					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1169H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTAGTCCAGGCGGAACCTGCT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16502	0.001		0.0	False		,,,				2504	0.0				p.R1169H	Ovarian(97;366 1484 3738 22084 39045)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3506A	3						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	134.0	130.0		3506	1.8	1.0	3		130	0,8600		0,0,4300	no	missense	PLXND1	NM_015103.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1169/1926	129289977	1,13005	2203	4300	6503	130772667	SO:0001583	missense	23129	exon18			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3506G>A	3.37:g.129289977C>T	ENSP00000317128:p.Arg1169His		130772667	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.868	0.727547	0.15439	2.27E-4	0.0	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35789	1.34;1.29	4.91	1.82	0.25136	.	0.827446	0.10802	N	0.632620	T	0.19046	0.0457	N	0.08118	0	0.31426	N	0.67377	B	0.10296	0.003	B	0.04013	0.001	T	0.20538	-1.0272	10	0.37606	T	0.19	.	8.6862	0.34238	0.0:0.6509:0.0:0.3491	.	1169	Q9Y4D7	PLXD1_HUMAN	H	1169	ENSP00000317128:R1169H;ENSP00000376931:R1169H	ENSP00000317128:R1169H	R	-	2	0	PLXND1	130772667	0.987000	0.35691	0.998000	0.56505	0.644000	0.38419	0.254000	0.18314	0.065000	0.16485	-0.657000	0.03884	CGC		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
TMCC1	23023	broad.mit.edu	37	3	129390105	129390105	+	Silent	SNP	G	G	T	rs564523106	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:129390105G>T	ENST00000393238.3	-	4	919	c.579C>A	c.(577-579)atC>atA	p.I193I	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Silent_p.I14I|TMCC1_ENST00000426664.2_Silent_p.I79I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	193						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I193I(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCAACCGTTCGATCTAGTGTA	0.468																																					p.I193I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C579A	3						.						44.0	43.0	43.0					3																	129390105		2203	4300	6503	130872795	SO:0001819	synonymous_variant	23023	exon4			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.579C>A	3.37:g.129390105G>T			130872795	NM_001017395	A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	CCDS33855.1																																																																																				0.468	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008	
COL6A5	256076	broad.mit.edu	37	3	130187813	130187813	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130187813A>G	ENST00000432398.2	+	38	7459	c.6965A>G	c.(6964-6966)cAc>cGc	p.H2322R	COL6A5_ENST00000265379.6_Missense_Mutation_p.H2322R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2322	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.H361R(1)|p.H2322R(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GATTACTTTCACATTGCCCCC	0.463																																					p.H2322R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6965G	3						.						81.0	80.0	80.0					3																	130187813		2043	4180	6223	131670503	SO:0001583	missense	256076	exon38			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6965A>G	3.37:g.130187813A>G	ENSP00000390895:p.His2322Arg		131670503	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	A	2.700	-0.271130	0.05716	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.34	4.16	0.48862	von Willebrand factor, type A (3);	0.382752	0.22416	N	0.060359	T	0.74869	0.3773	L	0.34521	1.04	0.09310	N	1	P;P	0.39216	0.664;0.613	P;B	0.45538	0.484;0.352	T	0.61628	-0.7024	10	0.19147	T	0.46	.	4.7442	0.13029	0.7441:0.0:0.0883:0.1676	.	2322;2322	A8TX70;A8TX70-2	CO6A5_HUMAN;.	R	2322;2322;265;157	ENSP00000390895:H2322R;ENSP00000265379:H2322R;ENSP00000362250:H265R;ENSP00000424968:H157R	ENSP00000265379:H2322R	H	+	2	0	COL6A5	131670503	0.092000	0.21681	0.234000	0.24042	0.028000	0.11728	1.447000	0.35101	0.846000	0.35142	-0.341000	0.08007	CAC		0.463	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A5	256076	broad.mit.edu	37	3	130188078	130188078	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130188078C>A	ENST00000432398.2	+	38	7724	c.7230C>A	c.(7228-7230)atC>atA	p.I2410I	COL6A5_ENST00000265379.6_Silent_p.I2410I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2410	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I449I(1)|p.I2410I(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAAAGTTATCTTTGTAATAT	0.408																																					p.I2410I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7230A	3						.						124.0	108.0	113.0					3																	130188078		1845	4097	5942	131670768	SO:0001819	synonymous_variant	256076	exon38			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7230C>A	3.37:g.130188078C>A			131670768	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	3.756	-0.050670	0.07407	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.13	4.25	0.50352	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51616	-0.8683	4	.	.	.	.	4.6684	0.12676	0.1762:0.6442:0.0:0.1796	.	.	.	.	I	662	.	.	L	+	1	0	COL6A5	131670768	0.998000	0.40836	1.000000	0.80357	0.557000	0.35523	0.328000	0.19681	1.157000	0.42530	0.655000	0.94253	CTT		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A5	256076	broad.mit.edu	37	3	130189718	130189718	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130189718C>T	ENST00000432398.2	+	39	7975	c.7481C>T	c.(7480-7482)gCc>gTc	p.A2494V	COL6A5_ENST00000265379.6_Missense_Mutation_p.A2494V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2494	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A533V(1)|p.A2494V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCTCCAGGTGCCATCAACAAA	0.438																																					p.A2494V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7481T	3						.						75.0	73.0	74.0					3																	130189718		1888	4122	6010	131672408	SO:0001583	missense	256076	exon39			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7481C>T	3.37:g.130189718C>T	ENSP00000390895:p.Ala2494Val		131672408	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	C	16.08	3.020624	0.54576	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.35	4.46	0.54185	.	0.123452	0.36444	N	0.002581	T	0.29423	0.0733	M	0.61703	1.905	0.23712	N	0.997043	D;D	0.69078	0.997;0.989	P;P	0.62089	0.898;0.796	T	0.06144	-1.0843	10	0.42905	T	0.14	.	12.0063	0.53261	0.0:0.8256:0.1744:0.0	.	2494;2494	A8TX70;A8TX70-2	CO6A5_HUMAN;.	V	2494;2494;437;329	ENSP00000390895:A2494V;ENSP00000265379:A2494V;ENSP00000362250:A437V;ENSP00000424968:A329V	ENSP00000265379:A2494V	A	+	2	0	COL6A5	131672408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.378000	0.34328	1.239000	0.43787	0.655000	0.94253	GCC		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A6	131873	broad.mit.edu	37	3	130282333	130282333	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130282333C>A	ENST00000358511.6	+	2	517	c.486C>A	c.(484-486)atC>atA	p.I162I	COL6A6_ENST00000453409.2_Silent_p.I162I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	162	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I162I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAAATCATCTCTGTAGGGG	0.488																																					p.I162I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486A	3						.						60.0	61.0	60.0					3																	130282333		1918	4125	6043	131765023	SO:0001819	synonymous_variant	131873	exon2			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.486C>A	3.37:g.130282333C>A			131765023	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130284093	130284093	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130284093C>A	ENST00000358511.6	+	3	948	c.917C>A	c.(916-918)gCc>gAc	p.A306D	COL6A6_ENST00000453409.2_Missense_Mutation_p.A306D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	306	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A306D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTGGGAAGGCCTATACTGGA	0.478																																					p.A306D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C917A	3						.						71.0	73.0	72.0					3																	130284093		1860	4101	5961	131766783	SO:0001583	missense	131873	exon3			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.917C>A	3.37:g.130284093C>A	ENSP00000351310:p.Ala306Asp		131766783	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738540	0.49045	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77750	-1.12;-1.12	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.099840	0.44483	D	0.000448	D	0.87103	0.6094	M	0.75777	2.31	0.39769	D	0.972133	D	0.58268	0.982	P	0.62740	0.906	D	0.89186	0.3547	10	0.72032	D	0.01	.	18.2742	0.90078	0.0:1.0:0.0:0.0	.	306	A6NMZ7	CO6A6_HUMAN	D	306	ENSP00000351310:A306D;ENSP00000399236:A306D	ENSP00000351310:A306D	A	+	2	0	COL6A6	131766783	0.996000	0.38824	0.857000	0.33713	0.021000	0.10359	5.527000	0.67123	2.492000	0.84095	0.561000	0.74099	GCC		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130285863	130285863	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130285863G>A	ENST00000358511.6	+	4	1631	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G534R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	534	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G534R(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAGCAGCGAGGAAACAAAGT	0.473																																					p.G534R												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.G1600A	3						.						94.0	99.0	97.0					3																	130285863		1982	4163	6145	131768553	SO:0001583	missense	131873	exon4			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1600G>A	3.37:g.130285863G>A	ENSP00000351310:p.Gly534Arg		131768553	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.078	-0.189581	0.06299	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.76578	-1.03;-1.03	5.24	2.44	0.29823	von Willebrand factor, type A (3);	0.461996	0.20205	N	0.097015	T	0.52141	0.1716	N	0.04705	-0.18	0.09310	N	1	B	0.20052	0.041	B	0.25291	0.059	T	0.36311	-0.9753	10	0.14656	T	0.56	.	5.942	0.19198	0.2905:0.1272:0.5823:0.0	.	534	A6NMZ7	CO6A6_HUMAN	R	534	ENSP00000351310:G534R;ENSP00000399236:G534R	ENSP00000351310:G534R	G	+	1	0	COL6A6	131768553	0.138000	0.22547	0.031000	0.17742	0.020000	0.10135	2.433000	0.44793	0.604000	0.29930	-0.291000	0.09656	GGA		0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130287048	130287048	+	Silent	SNP	C	C	T	rs142295956	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130287048C>T	ENST00000358511.6	+	5	2032	c.2001C>T	c.(1999-2001)agC>agT	p.S667S	COL6A6_ENST00000453409.2_Silent_p.S667S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	667	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S667S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCAGTTCAGCGACATCAATA	0.423													C|||	3	0.000599042	0.0	0.0	5008	,	,		20537	0.003		0.0	False		,,,				2504	0.0				p.S667S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2001T	3						.	C		0,3850		0,0,1925	179.0	174.0	176.0		2001	-5.8	0.0	3	dbSNP_134	176	2,8248		0,2,4123	no	coding-synonymous	COL6A6	NM_001102608.1		0,2,6048	TT,TC,CC		0.0242,0.0,0.0165		667/2264	130287048	2,12098	1925	4125	6050	131769738	SO:0001819	synonymous_variant	131873	exon5			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2001C>T	3.37:g.130287048C>T			131769738	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130293041	130293041	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130293041C>A	ENST00000358511.6	+	7	3250	c.3219C>A	c.(3217-3219)atC>atA	p.I1073I	COL6A6_ENST00000453409.2_Silent_p.I1073I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1073	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.I1073I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAAGCAGATCTTTGGAAACA	0.483																																					p.I1073I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3219A	3						.						93.0	90.0	91.0					3																	130293041		1960	4162	6122	131775731	SO:0001819	synonymous_variant	131873	exon7			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3219C>A	3.37:g.130293041C>A			131775731	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.483	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130293363	130293363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130293363G>T	ENST00000358511.6	+	7	3572	c.3541G>T	c.(3541-3543)Gaa>Taa	p.E1181*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.E1181*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1181	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E1181*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CACAGCGGGTGAAAGCAGTAA	0.468																																					p.E1181X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3541T	3						.						40.0	39.0	39.0					3																	130293363		1944	4146	6090	131776053	SO:0001587	stop_gained	131873	exon7			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3541G>T	3.37:g.130293363G>T	ENSP00000351310:p.Glu1181*		131776053	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	38	7.205013	0.98132	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.06	3.24	0.37175	.	0.841692	0.10359	N	0.684197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5035	0.39033	0.2371:0.0:0.7629:0.0	.	.	.	.	X	1181	.	ENSP00000351310:E1181X	E	+	1	0	COL6A6	131776053	0.499000	0.26083	0.843000	0.33291	0.139000	0.21198	1.294000	0.33365	1.269000	0.44280	0.655000	0.94253	GAA		0.468	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130361685	130361685	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130361685G>T	ENST00000358511.6	+	29	5195	c.5164G>T	c.(5164-5166)Gga>Tga	p.G1722*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.G1722*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1722	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1722*(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGGTGTGAAAGGAGCCAAAGG	0.423																																					p.G1722X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5164T	3						.						146.0	131.0	136.0					3																	130361685		1868	4107	5975	131844375	SO:0001587	stop_gained	131873	exon29			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5164G>T	3.37:g.130361685G>T	ENSP00000351310:p.Gly1722*		131844375	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Nonsense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	45	11.838792	0.99609	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	.	.	.	X	1722	.	ENSP00000351310:G1722X	G	+	1	0	COL6A6	131844375	1.000000	0.71417	0.967000	0.41034	0.725000	0.41563	6.551000	0.73909	2.724000	0.93272	0.561000	0.74099	GGA		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130368040	130368040	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130368040C>T	ENST00000358511.6	+	32	5398	c.5367C>T	c.(5365-5367)gtC>gtT	p.V1789V	COL6A6_ENST00000453409.2_Silent_p.V1789V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1789	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V1789V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACATTAAGGTCCGGGAGAACA	0.572																																					p.V1789V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5367T	3						.						45.0	46.0	46.0					3																	130368040		1974	4155	6129	131850730	SO:0001819	synonymous_variant	131873	exon32			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5367C>T	3.37:g.130368040C>T			131850730	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.572	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130368146	130368146	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130368146C>A	ENST00000358511.6	+	32	5504	c.5473C>A	c.(5473-5475)Ctc>Atc	p.L1825I	COL6A6_ENST00000453409.2_Missense_Mutation_p.L1825I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1825	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L1825I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGTCAACTTCTCAGAGAAAT	0.522																																					p.L1825I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5473A	3						.						27.0	28.0	28.0					3																	130368146		1900	4116	6016	131850836	SO:0001583	missense	131873	exon32			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5473C>A	3.37:g.130368146C>A	ENSP00000351310:p.Leu1825Ile		131850836	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717578	0.30413	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84442	-1.85;-1.85	5.45	5.45	0.79879	von Willebrand factor, type A (3);	.	.	.	.	D	0.85440	0.5697	M	0.64404	1.975	0.30026	N	0.813871	P	0.48089	0.905	P	0.45794	0.493	D	0.83414	0.0029	9	0.39692	T	0.17	.	14.1603	0.65443	0.1498:0.8502:0.0:0.0	.	1825	A6NMZ7	CO6A6_HUMAN	I	1825	ENSP00000351310:L1825I;ENSP00000399236:L1825I	ENSP00000351310:L1825I	L	+	1	0	COL6A6	131850836	0.332000	0.24722	0.110000	0.21437	0.004000	0.04260	0.810000	0.27183	2.560000	0.86352	0.462000	0.41574	CTC		0.522	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
ATP2C1	27032	broad.mit.edu	37	3	130714897	130714897	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130714897G>A	ENST00000510168.1	+	23	2618	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	ATP2C1_ENST00000505330.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000508532.1_Missense_Mutation_p.E690K|ATP2C1_ENST00000428331.2_Missense_Mutation_p.E690K|ATP2C1_ENST00000513801.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000504381.1_Missense_Mutation_p.E635K|ATP2C1_ENST00000359644.3_Missense_Mutation_p.E690K|ATP2C1_ENST00000504948.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000328560.8_Missense_Mutation_p.E690K|ATP2C1_ENST00000393221.4_Missense_Mutation_p.E724K|ATP2C1_ENST00000507488.2_Missense_Mutation_p.E674K|ATP2C1_ENST00000533801.2_Missense_Mutation_p.E685K|ATP2C1_ENST00000422190.2_Missense_Mutation_p.E690K			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	690					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E690K(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTGCAATCGAAGAGGGTAA	0.299									Hailey-Hailey disease																												p.E674K	Esophageal Squamous(99;456 1443 27647 34099 42636)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2020A	3						.						78.0	93.0	88.0					3																	130714897		2202	4297	6499	132197587	SO:0001583	missense	27032	exon22	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2068G>A	3.37:g.130714897G>A	ENSP00000427461:p.Glu690Lys		132197587	NM_001199183	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	35	5.593587	0.96602	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.75	5.75	0.90469	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.99;1.0;0.99;1.0;1.0	D;D;P;D;P;D;D	0.81914	0.995;0.988;0.754;0.995;0.754;0.995;0.988	D	0.97774	1.0228	10	0.44086	T	0.13	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	724;685;724;690;724;690;690	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	K	674;635;674;724;685;690;690;674;674;690;690;690;690;689	ENSP00000423774:E674K;ENSP00000425320:E635K;ENSP00000421326:E674K;ENSP00000376914:E724K;ENSP00000432956:E685K;ENSP00000427461:E690K;ENSP00000424783:E690K;ENSP00000423330:E674K;ENSP00000422872:E674K;ENSP00000329664:E690K;ENSP00000395809:E690K;ENSP00000352665:E690K;ENSP00000402677:E690K	ENSP00000329664:E690K	E	+	1	0	ATP2C1	132197587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.689000	0.98673	2.720000	0.93068	0.491000	0.48974	GAA		0.299	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	
ASTE1	28990	broad.mit.edu	37	3	130733103	130733103	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130733103G>A	ENST00000264992.3	-	6	2279	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.S638L|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	613					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.S613L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGGGGCATATGACCTTGTGGC	0.413																																					p.S613L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1838T	3						.						68.0	69.0	69.0					3																	130733103		2203	4300	6503	132215793	SO:0001583	missense	28990	exon6			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1838C>T	3.37:g.130733103G>A	ENSP00000264992:p.Ser613Leu		132215793	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	6.548	0.469317	0.12461	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.51	4.61	0.57282	.	0.643351	0.16439	N	0.214380	T	0.43743	0.1261	L	0.59436	1.845	0.09310	N	1	B;B	0.21905	0.062;0.036	B;B	0.14578	0.011;0.011	T	0.31752	-0.9932	9	0.36615	T	0.2	-1.9989	11.4123	0.49933	0.0:0.0:0.6448:0.3552	.	638;613	D6RG30;Q2TB18	.;ASTE1_HUMAN	L	638;613	.	ENSP00000264992:S613L	S	-	2	0	ASTE1	132215793	0.069000	0.21087	0.002000	0.10522	0.199000	0.23934	2.616000	0.46376	1.393000	0.46605	0.557000	0.71058	TCA		0.413	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
ASTE1	28990	broad.mit.edu	37	3	130743298	130743298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130743298G>A	ENST00000264992.3	-	3	1294	c.853C>T	c.(853-855)Cga>Tga	p.R285*	NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|ASTE1_ENST00000514044.1_Nonsense_Mutation_p.R285*|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	285					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R285*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACATTTTCTCGATCCTTTTTT	0.448																																					p.R285X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C853T	3						.						130.0	125.0	127.0					3																	130743298		2203	4300	6503	132225988	SO:0001587	stop_gained	28990	exon3			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.853C>T	3.37:g.130743298G>A	ENSP00000264992:p.Arg285*		132225988	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Nonsense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	40	8.269464	0.98735	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.54	3.54	0.40534	.	0.277358	0.37577	N	0.002038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6889	11.2993	0.49295	0.0:0.2062:0.634:0.1599	.	.	.	.	X	285	.	ENSP00000264992:R285X	R	-	1	2	ASTE1	132225988	0.016000	0.18221	0.582000	0.28627	0.972000	0.66771	1.224000	0.32539	1.329000	0.45376	-0.304000	0.09214	CGA		0.448	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
ASTE1	28990	broad.mit.edu	37	3	130743678	130743678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130743678G>T	ENST00000264992.3	-	3	914	c.473C>A	c.(472-474)tCa>tAa	p.S158*	NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|ASTE1_ENST00000514044.1_Nonsense_Mutation_p.S158*|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	158					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.S158*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACTATCTGATGATAACACAGG	0.413																																					p.S158X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C473A	3						.						68.0	65.0	66.0					3																	130743678		2203	4300	6503	132226368	SO:0001587	stop_gained	28990	exon3			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.473C>A	3.37:g.130743678G>T	ENSP00000264992:p.Ser158*		132226368	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Nonsense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022724	0.93462	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	.	.	.	5.39	5.39	0.77823	.	0.102971	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4083	18.772	0.91896	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000264992:S158X	S	-	2	0	ASTE1	132226368	0.999000	0.42202	0.122000	0.21767	0.004000	0.04260	6.078000	0.71282	2.527000	0.85204	0.563000	0.77884	TCA		0.413	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
ASTE1	28990	broad.mit.edu	37	3	130748560	130748560	+	5'Flank	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:130748560A>C	ENST00000264992.3	-	0	0				NEK11_ENST00000511262.1_Missense_Mutation_p.K3T|NEK11_ENST00000510769.1_Missense_Mutation_p.K3T|NEK11_ENST00000356918.4_Missense_Mutation_p.K3T|NEK11_ENST00000429253.2_Missense_Mutation_p.K3T|NEK11_ENST00000383366.4_Missense_Mutation_p.K3T|NEK11_ENST00000508196.1_Missense_Mutation_p.K3T|NEK11_ENST00000507910.1_Missense_Mutation_p.K3T|ASTE1_ENST00000514044.1_5'Flank|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.K3T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)						DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.K3T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GCAATGCTGAAATTCCAAGAG	0.403																																					p.K3T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8C	3						.						106.0	99.0	102.0					3																	130748560		2203	4300	6503	132231250	SO:0001631	upstream_gene_variant	79858	exon3			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644		3.37:g.130748560A>C	Exception_encountered		132231250	NM_024800	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684536	0.68157	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.71934	-0.56;-0.49;-0.61;-0.58;-0.58;-0.49;-0.61;-0.49	5.83	3.46	0.39613	.	0.108034	0.40728	N	0.001035	T	0.58793	0.2147	N	0.08118	0	0.80722	D	1	P;D;D;P;P	0.57571	0.873;0.98;0.98;0.919;0.873	P;P;P;P;P	0.52856	0.544;0.711;0.711;0.477;0.544	T	0.61362	-0.7078	10	0.59425	D	0.04	.	9.091	0.36610	0.7937:0.0:0.2063:0.0	.	3;3;3;3;3	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	T	3	ENSP00000421549:K3T;ENSP00000397180:K3T;ENSP00000349389:K3T;ENSP00000423458:K3T;ENSP00000425114:K3T;ENSP00000372857:K3T;ENSP00000426662:K3T;ENSP00000421851:K3T	ENSP00000349389:K3T	K	+	2	0	NEK11	132231250	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.919000	0.40015	0.486000	0.27676	-0.256000	0.11100	AAA		0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
CPNE4	131034	broad.mit.edu	37	3	131624266	131624266	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:131624266A>G	ENST00000512055.1	-	6	2148	c.22T>C	c.(22-24)Tat>Cat	p.Y8H	CPNE4_ENST00000429747.1_Missense_Mutation_p.Y8H|CPNE4_ENST00000502818.1_Missense_Mutation_p.Y26H|CPNE4_ENST00000511604.1_Missense_Mutation_p.Y8H|CPNE4_ENST00000512332.1_Missense_Mutation_p.Y26H			Q96A23	CPNE4_HUMAN	copine IV	8						extracellular vesicular exosome (GO:0070062)		p.Y8H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCGGACTCATAAATGTTGCTC	0.443																																					p.Y8H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T22C	3						.						54.0	53.0	53.0					3																	131624266		2203	4300	6503	133106956	SO:0001583	missense	131034	exon2			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.22T>C	3.37:g.131624266A>G	ENSP00000421705:p.Tyr8His		133106956	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612395	0.46631	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.55413	0.55;0.55;0.52;0.55;0.52;1.44;1.36;0.78	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.34521	1.04	0.58432	D	0.999994	P;P	0.49090	0.919;0.855	P;B	0.44990	0.466;0.36	T	0.30822	-0.9965	10	0.15952	T	0.53	-14.5677	15.7219	0.77718	1.0:0.0:0.0:0.0	.	26;8	Q96A23-2;Q96A23	.;CPNE4_HUMAN	H	8;8;26;8;26;8;8;8	ENSP00000421705:Y8H;ENSP00000411904:Y8H;ENSP00000424853:Y26H;ENSP00000423811:Y8H;ENSP00000421646:Y26H;ENSP00000425506:Y8H;ENSP00000427561:Y8H;ENSP00000421394:Y8H	ENSP00000411904:Y8H	Y	-	1	0	CPNE4	133106956	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	7.161000	0.77505	2.112000	0.64535	0.533000	0.62120	TAT		0.443	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
ACPP	55	broad.mit.edu	37	3	132051045	132051045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132051045C>T	ENST00000336375.5	+	4	403	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ACPP_ENST00000475741.1_Nonsense_Mutation_p.R105*|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R105*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.R105*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTATATTCGAAGCACAGA	0.458																																					p.R105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C313T	3						.						144.0	144.0	144.0					3																	132051045		2203	4300	6503	133533735	SO:0001587	stop_gained	55	exon4				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.313C>T	3.37:g.132051045C>T	ENSP00000337471:p.Arg105*		133533735	NM_001099	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Nonsense_Mutation	SNP	ENST00000336375.5	37	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129490	0.56721	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	.	.	.	6.17	6.17	0.99709	.	0.351400	0.24818	N	0.035352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4841	0.67603	0.147:0.853:0.0:0.0	.	.	.	.	X	105;76;105;105	.	ENSP00000337471:R105X	R	+	1	2	ACPP	133533735	0.979000	0.34478	0.474000	0.27266	0.073000	0.16967	2.813000	0.48002	2.941000	0.99782	0.655000	0.94253	CGA		0.458	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	
ACPP	55	broad.mit.edu	37	3	132086646	132086646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132086646G>T	ENST00000351273.7	+	11	1287	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.E413*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGAGAGAATCCTATGG	0.488																																					p.E413X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1237T	3						.						332.0	279.0	295.0					3																	132086646		1568	3582	5150	133569336	SO:0001587	stop_gained	55	exon11				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000351273.7:c.1237G>T	3.37:g.132086646G>T	ENSP00000323036:p.Glu413*		133569336	NM_001134194	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Nonsense_Mutation	SNP	ENST00000351273.7	37	CCDS46916.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976914	0.92982	.	.	ENSG00000014257	ENST00000351273	.	.	.	4.8	3.92	0.45320	.	0.733817	0.12769	N	0.440701	.	.	.	.	.	.	0.44890	D	0.997906	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	9.7377	0.40397	0.0987:0.0:0.9013:0.0	.	.	.	.	X	413	.	ENSP00000323036:E413X	E	+	1	0	ACPP	133569336	1.000000	0.71417	0.960000	0.40013	0.931000	0.56810	2.683000	0.46943	1.348000	0.45733	0.655000	0.94253	GAA		0.488	ACPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356701.1	NM_001099	
DNAJC13	23317	broad.mit.edu	37	3	132192016	132192016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132192016C>T	ENST00000260818.6	+	21	2484	c.2236C>T	c.(2236-2238)Cga>Tga	p.R746*		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	746					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.R746*(1)|p.R129*(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGTGGTTCTTCGAAAGAGAAG	0.323																																					p.R746X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2236T	3						.						53.0	60.0	58.0					3																	132192016		2203	4299	6502	133674706	SO:0001587	stop_gained	23317	exon21			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2236C>T	3.37:g.132192016C>T	ENSP00000260818:p.Arg746*		133674706	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Nonsense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	41	8.992027	0.99029	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.71	4.76	0.60689	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3834	0.60783	0.2365:0.7635:0.0:0.0	.	.	.	.	X	746	.	ENSP00000260818:R746X	R	+	1	2	DNAJC13	133674706	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.624000	0.46444	2.700000	0.92200	0.557000	0.71058	CGA		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ACKR4	51554	broad.mit.edu	37	3	132319735	132319735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132319735C>T	ENST00000249887.2	+	2	590	c.494C>T	c.(493-495)gCc>gTc	p.A165V	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	165					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.A165V(1)									TGGATGGCTGCCATCTTGCTG	0.458																																					p.A165V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494T	3						.						29.0	28.0	28.0					3																	132319735		2202	4295	6497	133802425	SO:0001583	missense	51554	exon1			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.494C>T	3.37:g.132319735C>T	ENSP00000249887:p.Ala165Val		133802425	NM_178445	B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623045	0.87460	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.40756	1.02	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.105861	0.64402	D	0.000005	T	0.71264	0.3319	M	0.91920	3.255	0.58432	D	0.999996	D	0.76494	0.999	D	0.68943	0.961	T	0.77713	-0.2485	10	0.87932	D	0	.	16.2433	0.82426	0.0:0.8674:0.1326:0.0	.	165	Q9NPB9	CCRL1_HUMAN	V	165	ENSP00000249887:A165V	ENSP00000249887:A165V	A	+	2	0	CCRL1	133802425	1.000000	0.71417	0.795000	0.32087	0.985000	0.73830	5.978000	0.70501	2.732000	0.93576	0.655000	0.94253	GCC		0.458	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557	
ACKR4	51554	broad.mit.edu	37	3	132320254	132320254	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132320254C>A	ENST00000249887.2	+	2	1109	c.1013C>A	c.(1012-1014)tCt>tAt	p.S338Y	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	338					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.S338Y(1)									CCTTTTGATTCTGAGGGTCCT	0.403																																					p.S338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1013A	3						.						13.0	12.0	12.0					3																	132320254		1858	4062	5920	133802944	SO:0001583	missense	51554	exon1			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.1013C>A	3.37:g.132320254C>A	ENSP00000249887:p.Ser338Tyr		133802944	NM_178445	B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242688	0.22796	.	.	ENSG00000129048	ENST00000249887	T	0.61627	0.09	5.67	5.67	0.87782	.	0.284373	0.32416	N	0.006139	T	0.39118	0.1066	N	0.08118	0	0.53688	D	0.999971	B	0.25719	0.132	B	0.18263	0.021	T	0.36962	-0.9726	10	0.87932	D	0	.	15.1294	0.72511	0.2084:0.7916:0.0:0.0	.	338	Q9NPB9	CCRL1_HUMAN	Y	338	ENSP00000249887:S338Y	ENSP00000249887:S338Y	S	+	2	0	CCRL1	133802944	0.074000	0.21230	0.949000	0.38748	0.993000	0.82548	1.686000	0.37669	2.697000	0.92050	0.655000	0.94253	TCT		0.403	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557	
ACAD11	84129	broad.mit.edu	37	3	132347192	132347192	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132347192G>T	ENST00000264990.6	-	8	2033	c.1062C>A	c.(1060-1062)ctC>ctA	p.L354L	ACAD11_ENST00000481970.2_Silent_p.L354L|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Silent_p.L354L|ACAD11_ENST00000489991.1_5'Flank	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	354					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.L354L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACCGTTTGGAGAGTTGTAGTC	0.378																																					p.L354L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062A	3						.						97.0	95.0	96.0					3																	132347192		2203	4300	6503	133829882	SO:0001819	synonymous_variant	84129	exon8			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1062C>A	3.37:g.132347192G>T			133829882	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	ENST00000264990.6	37	CCDS3074.1																																																																																				0.378	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
ACAD11	84129	broad.mit.edu	37	3	132363685	132363685	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:132363685G>A	ENST00000264990.6	-	2	1176	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	ACAD11_ENST00000481970.2_Missense_Mutation_p.L69F|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.L69F|ACAD11_ENST00000489991.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	69					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.L69F(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTTTTCCTGAGCACATATGTT	0.318																																					p.L69F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	3						.						103.0	108.0	106.0					3																	132363685		2203	4300	6503	133846375	SO:0001583	missense	84129	exon2			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.205C>T	3.37:g.132363685G>A	ENSP00000264990:p.Leu69Phe		133846375	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.501152|4.501152	0.85176|0.85176	.|.	.|.	ENSG00000113971|ENSG00000240303;ENSG00000240303;ENSG00000240303;ENSG00000113971	ENST00000393144|ENST00000355458;ENST00000264990;ENST00000481970;ENST00000393156	.|T;T;T	.|0.46451	.|0.87;0.87;0.87	6.16|6.16	5.29|5.29	0.74685|0.74685	.|Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.74997|0.74997	0.3790|0.3790	H|H	0.95504|0.95504	3.68|3.68	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.87578	.|0.994;0.998;0.99	D|D	0.83712|0.83712	0.0188|0.0188	6|9	0.25106|0.87932	T|D	0.35|0	.|.	15.6102|15.6102	0.76710|0.76710	0.0654:0.0:0.9346:0.0|0.0654:0.0:0.9346:0.0	.|.	.|231;69;69	.|Q7Z491;D6RDI8;Q709F0	.|.;.;ACD11_HUMAN	V|F	627|69;69;69;411	.|ENSP00000347636:L69F;ENSP00000264990:L69F;ENSP00000420907:L69F	ENSP00000376852:A627V|ENSP00000264990:L69F	A|L	-|-	2|1	0|0	NPHP3|NPHP3;ACAD11	133846375|133846375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.905000|6.905000	0.75714|0.75714	1.628000|1.628000	0.50416|0.50416	-0.145000|-0.145000	0.13849|0.13849	GCT|CTC		0.318	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
TOPBP1	11073	broad.mit.edu	37	3	133362999	133362999	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133362999G>A	ENST00000260810.5	-	11	1844	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	571	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.I484I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGATGTTTGCGATGTTAGATT	0.398								Other conserved DNA damage response genes																													p.I571I	Ovarian(21;193 658 4424 15423 17362)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1713T	3						.						85.0	79.0	81.0					3																	133362999		1874	4102	5976	134845689	SO:0001819	synonymous_variant	11073	exon11			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1713C>T	3.37:g.133362999G>A			134845689	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	CCDS46919.1																																																																																				0.398	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
TOPBP1	11073	broad.mit.edu	37	3	133368715	133368715	+	Missense_Mutation	SNP	G	G	A	rs369433427		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133368715G>A	ENST00000260810.5	-	9	1293	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	388	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.R301C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGGTTAAAACGAACTCCACCT	0.338								Other conserved DNA damage response genes																													p.R388C	Ovarian(21;193 658 4424 15423 17362)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	3						.	G	CYS/ARG	0,3694		0,0,1847	70.0	67.0	68.0		1162	4.8	1.0	3		68	1,8181		0,1,4090	no	missense	TOPBP1	NM_007027.3	180	0,1,5937	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	388/1523	133368715	1,11875	1847	4091	5938	134851405	SO:0001583	missense	11073	exon9			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1162C>T	3.37:g.133368715G>A	ENSP00000260810:p.Arg388Cys		134851405	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831791	0.71258	0.0	1.22E-4	ENSG00000163781	ENST00000260810	T	0.78364	-1.17	5.68	4.8	0.61643	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	M	0.84773	2.715	0.80722	D	1	P	0.39480	0.675	P	0.44647	0.456	D	0.83418	0.0031	10	0.39692	T	0.17	.	15.0537	0.71894	0.0693:0.0:0.9307:0.0	.	388	Q92547	TOPB1_HUMAN	C	388	ENSP00000260810:R388C	ENSP00000260810:R388C	R	-	1	0	TOPBP1	134851405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.121000	0.77160	2.678000	0.91216	0.650000	0.86243	CGT		0.338	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
TF	7018	broad.mit.edu	37	3	133472449	133472449	+	Missense_Mutation	SNP	C	C	T	rs41298977	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133472449C>T	ENST00000402696.3	+	3	712	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_5'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	76	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.		A -> V (in dbSNP:rs41298977).		blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.A76V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCAAACGAAGCGGATGCTGTG	0.527													C|||	9	0.00179712	0.0	0.0	5008	,	,		16284	0.0089		0.0	False		,,,				2504	0.0				p.A76V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C227T	3						.	C	VAL/ALA	0,4406		0,0,2203	141.0	123.0	129.0		227	5.0	0.4	3	dbSNP_127	129	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TF	NM_001063.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	76/699	133472449	2,13004	2203	4300	6503	134955139	SO:0001583	missense	7018	exon3				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.227C>T	3.37:g.133472449C>T	ENSP00000385834:p.Ala76Val		134955139	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	C	24.6	4.552024	0.86127	0.0	2.33E-4	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.51574	0.7;0.7	4.99	4.99	0.66335	.	0.046660	0.85682	D	0.000000	T	0.64260	0.2582	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	P	0.56278	0.795	T	0.76531	-0.2925	10	0.66056	D	0.02	-15.7114	17.5631	0.87912	0.0:1.0:0.0:0.0	rs41298977	76	P02787	TRFE_HUMAN	V	76;32	ENSP00000385834:A76V;ENSP00000417468:A32V	ENSP00000385834:A76V	A	+	2	0	TF	134955139	1.000000	0.71417	0.401000	0.26359	0.017000	0.09413	5.790000	0.69038	2.756000	0.94617	0.561000	0.74099	GCG		0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
TF	7018	broad.mit.edu	37	3	133475676	133475676	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133475676G>T	ENST00000402696.3	+	7	1178	c.693G>T	c.(691-693)gaG>gaT	p.E231D	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Splice_Site_p.E104D	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	231	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.E231D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTCCCCAGAGAACTTGGCAA	0.527																																					p.E231D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G693T	3						.						101.0	104.0	103.0					3																	133475676		2203	4300	6503	134958366	SO:0001630	splice_region_variant	7018	exon7				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.692-1G>T	3.37:g.133475676G>T			134958366	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	9.470	1.095329	0.20471	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.39229	1.09;1.09;1.09	5.18	2.09	0.27110	.	0.186910	0.56097	N	0.000029	T	0.38374	0.1038	M	0.66378	2.025	0.52099	D	0.99994	B	0.14438	0.01	B	0.28638	0.092	T	0.20874	-1.0262	10	0.52906	T	0.07	.	4.5758	0.12232	0.0891:0.1461:0.6138:0.1509	.	231	P02787	TRFE_HUMAN	D	231;104;104	ENSP00000385834:E231D;ENSP00000419338:E104D;ENSP00000264998:E104D	ENSP00000264998:E104D	E	+	3	2	TF	134958366	0.153000	0.22777	0.632000	0.29296	0.241000	0.25554	0.069000	0.14552	0.231000	0.21079	0.591000	0.81541	GAG		0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	Missense_Mutation
RYK	6259	broad.mit.edu	37	3	133878114	133878114	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133878114C>T	ENST00000427044.2	-	15	1722	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	RYK_ENST00000296084.4_Missense_Mutation_p.R561Q			P34925	RYK_HUMAN	receptor-like tyrosine kinase	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.R561Q(1)		lung(1)|ovary(3)	4						CTGGGCTATTCGGTAACCATC	0.453																																					p.P559P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1677A	3						.						68.0	67.0	67.0					3																	133878114		1932	4133	6065	135360804	SO:0001583	missense	6259	exon14			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1112G>A	3.37:g.133878114C>T	ENSP00000399527:p.Arg371Gln		135360804	NM_002958	Q04696	Silent	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.190028|5.190028	0.94923|0.94923	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000460933|ENST00000296084;ENST00000427044	.|D;D	.|0.84589	.|-1.87;-1.87	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94518|0.94518	0.8235|0.8235	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.75484	.|0.986;0.975	D|D	0.95242|0.95242	0.8352|0.8352	5|10	.|0.87932	.|D	.|0	-3.2019|-3.2019	19.7284|19.7284	0.96174|0.96174	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|557;560	.|P34925;P34925-2	.|RYK_HUMAN;.	K|Q	540|561;371	.|ENSP00000296084:R561Q;ENSP00000399527:R371Q	.|ENSP00000296084:R561Q	E|R	-|-	1|2	0|0	RYK|RYK	135360804|135360804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.668000|2.668000	0.90789|0.90789	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.453	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
RYK	6259	broad.mit.edu	37	3	133894834	133894834	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:133894834C>A	ENST00000427044.2	-	13	1398	c.788G>T	c.(787-789)gGa>gTa	p.G263V	RYK_ENST00000296084.4_Missense_Mutation_p.G453V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	449					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.G453V(1)		lung(1)|ovary(3)	4						GTAGCTCATTCCACAGGCAAT	0.463																																					p.W451C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1353T	3						.						50.0	50.0	50.0					3																	133894834		1983	4183	6166	135377524	SO:0001583	missense	6259	exon12			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.788G>T	3.37:g.133894834C>A	ENSP00000399527:p.Gly263Val		135377524	NM_002958	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.516231|4.516231	0.85495|0.85495	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000460933|ENST00000296084;ENST00000427044	.|T;D	.|0.94046	.|-0.06;-3.34	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.98264	.|0.9425	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|D	.|0.98959	.|1.0797	.|10	.|0.87932	.|D	.|0	-6.1118|-6.1118	20.1253|20.1253	0.97977|0.97977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|449;452	.|P34925;P34925-2	.|RYK_HUMAN;.	X|V	432|453;263	.|ENSP00000296084:G453V;ENSP00000399527:G263V	.|ENSP00000296084:G453V	E|G	-|-	1|2	0|0	RYK|RYK	135377524|135377524	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.463	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
EPHB1	2047	broad.mit.edu	37	3	134670754	134670754	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:134670754G>A	ENST00000398015.3	+	3	1035	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	222	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R222Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGATTGCTCGGGGCACATGC	0.532																																					p.R222Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G665A	3						.						175.0	170.0	172.0					3																	134670754		2042	4207	6249	136153444	SO:0001583	missense	2047	exon3			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.665G>A	3.37:g.134670754G>A	ENSP00000381097:p.Arg222Gln		136153444	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597629	0.66332	.	.	ENSG00000154928	ENST00000398015	T	0.73469	-0.75	5.36	4.46	0.54185	.	0.062979	0.64402	D	0.000006	D	0.85566	0.5726	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.86389	0.1734	9	.	.	.	.	15.7549	0.78015	0.0:0.1369:0.863:0.0	.	222	P54762	EPHB1_HUMAN	Q	222	ENSP00000381097:R222Q	.	R	+	2	0	EPHB1	136153444	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.978000	0.88095	1.207000	0.43291	0.561000	0.74099	CGG		0.532	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
EPHB1	2047	broad.mit.edu	37	3	134920412	134920412	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:134920412C>T	ENST00000398015.3	+	12	2597	c.2227C>T	c.(2227-2229)Cgg>Tgg	p.R743W	EPHB1_ENST00000493838.1_Missense_Mutation_p.R304W	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R743W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTATGTGCATCGGGACCTGGC	0.547																																					p.R743W												EPHB1,stomach,NS,Substitution - Missense,-1	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2227T	3						.						209.0	211.0	210.0					3																	134920412		2200	4300	6500	136403102	SO:0001583	missense	2047	exon12			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2227C>T	3.37:g.134920412C>T	ENSP00000381097:p.Arg743Trp		136403102	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769494	0.90020	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.75154	-0.91;-0.91	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.082254	0.56097	D	0.000029	D	0.92557	0.7636	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95289	0.8393	10	0.87932	D	0	.	15.3348	0.74244	0.1403:0.8597:0.0:0.0	.	743	P54762	EPHB1_HUMAN	W	743;304	ENSP00000381097:R743W;ENSP00000419574:R304W	ENSP00000381097:R743W	R	+	1	2	EPHB1	136403102	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.213000	0.51153	2.755000	0.94549	0.563000	0.77884	CGG		0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
PPP2R3A	5523	broad.mit.edu	37	3	135797264	135797264	+	Missense_Mutation	SNP	C	C	T	rs147986508		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:135797264C>T	ENST00000264977.3	+	7	3217	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S131L|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.S131L|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S246L	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	867					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S867L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAATTACTTCGACAGAGATA	0.284													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17857	0.0		0.0	False		,,,				2504	0.0				p.S246L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C737T	3						.	C	LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	66.0	66.0	66.0		392,2600,737	3.8	1.0	3	dbSNP_134	66	0,8596		0,0,4298	no	missense,missense,missense	PPP2R3A	NM_001190447.1,NM_002718.4,NM_181897.2	145,145,145	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	131/415,867/1151,246/530	135797264	1,13001	2203	4298	6501	137279954	SO:0001583	missense	5523	exon6			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2600C>T	3.37:g.135797264C>T	ENSP00000264977:p.Ser867Leu		137279954	NM_181897	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	5.382	0.255734	0.10185	2.27E-4	0.0	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546;ENST00000492624	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.78	3.82	0.43975	.	0.294609	0.32055	N	0.006658	T	0.03220	0.0094	N	0.00067	-2.295	0.36282	D	0.855817	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.41305	-0.9516	10	0.02654	T	1	.	4.3672	0.11230	0.0:0.7253:0.0:0.2747	.	246;867	Q06190-2;Q06190	.;P2R3A_HUMAN	L	867;131;246;131	ENSP00000264977:S867L;ENSP00000419344:S131L;ENSP00000334748:S246L;ENSP00000417231:S131L	ENSP00000264977:S867L	S	+	2	0	PPP2R3A	137279954	0.823000	0.29233	0.959000	0.39883	0.949000	0.60115	2.437000	0.44828	2.480000	0.83734	0.655000	0.94253	TCG		0.284	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
MSL2	55167	broad.mit.edu	37	3	135870933	135870933	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:135870933C>A	ENST00000309993.2	-	2	1522	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	MSL2_ENST00000434835.2_Missense_Mutation_p.D190Y	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	264					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D264Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AACAGAGAGTCTCCAGGTTTT	0.463																																					p.D264Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790T	3						.						59.0	65.0	63.0					3																	135870933		2203	4300	6503	137353623	SO:0001583	missense	55167	exon2			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.790G>T	3.37:g.135870933C>A	ENSP00000311827:p.Asp264Tyr		137353623	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710123	0.48517	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.07	6.07	0.98685	.	0.063176	0.64402	D	0.000008	T	0.52948	0.1766	N	0.19112	0.55	0.39731	D	0.971614	P	0.42620	0.785	P	0.44990	0.466	T	0.57613	-0.7781	9	0.62326	D	0.03	-8.1314	19.6475	0.95784	0.0:1.0:0.0:0.0	.	264	Q9HCI7	MSL2_HUMAN	Y	264;190	.	ENSP00000311827:D264Y	D	-	1	0	MSL2	137353623	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.370000	0.52372	2.885000	0.99019	0.655000	0.94253	GAC		0.463	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
STAG1	10274	broad.mit.edu	37	3	136078054	136078054	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:136078054G>A	ENST00000383202.2	-	27	3128	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	STAG1_ENST00000434713.2_Missense_Mutation_p.R698C|STAG1_ENST00000536929.1_Missense_Mutation_p.R542C|STAG1_ENST00000236698.5_Missense_Mutation_p.R958C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	958					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R958C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGGCAAAGCGACGTGCCAGT	0.413																																					p.R958C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2872T	3						.						131.0	119.0	123.0					3																	136078054		2203	4300	6503	137560744	SO:0001583	missense	10274	exon27			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2872C>T	3.37:g.136078054G>A	ENSP00000372689:p.Arg958Cys		137560744	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218062	0.79352	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.57107	1.0;1.06;0.42;0.56	5.81	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80286	-0.1446	10	0.87932	D	0	.	14.1034	0.65072	0.0:0.0:0.7429:0.2571	.	958;958	Q6P275;Q8WVM7	.;STAG1_HUMAN	C	958;958;698;542	ENSP00000372689:R958C;ENSP00000236698:R958C;ENSP00000404396:R698C;ENSP00000445787:R542C	ENSP00000236698:R958C	R	-	1	0	STAG1	137560744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.005000	0.57075	2.736000	0.93811	0.655000	0.94253	CGC		0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
STAG1	10274	broad.mit.edu	37	3	136117666	136117666	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:136117666G>A	ENST00000383202.2	-	22	2458	c.2202C>T	c.(2200-2202)gtC>gtT	p.V734V	STAG1_ENST00000434713.2_Silent_p.V508V|STAG1_ENST00000536929.1_Silent_p.V318V|STAG1_ENST00000236698.5_Silent_p.V734V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	734					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V734V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTGCTTGCACGACTATCTGTA	0.338																																					p.V734V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2202T	3						.						58.0	57.0	57.0					3																	136117666		2203	4300	6503	137600356	SO:0001819	synonymous_variant	10274	exon22			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2202C>T	3.37:g.136117666G>A			137600356	NM_005862	O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																				0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
STAG1	10274	broad.mit.edu	37	3	136240172	136240172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:136240172G>A	ENST00000383202.2	-	7	815	c.559C>T	c.(559-561)Cga>Tga	p.R187*	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R187*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGACACTGTCGAATCAGGACT	0.398																																					p.R187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C559T	3						.						103.0	99.0	100.0					3																	136240172		2203	4300	6503	137722862	SO:0001587	stop_gained	10274	exon7			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.559C>T	3.37:g.136240172G>A	ENSP00000372689:p.Arg187*		137722862	NM_005862	O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	38	6.682511	0.97759	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0024	0.97423	0.0:0.0:1.0:0.0	.	.	.	.	X	187	.	ENSP00000236698:R187X	R	-	1	2	STAG1	137722862	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.722000	0.93159	0.467000	0.42956	CGA		0.398	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
SLC35G2	80723	broad.mit.edu	37	3	136574290	136574290	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:136574290G>A	ENST00000446465.2	+	2	1616	c.988G>A	c.(988-990)Gca>Aca	p.A330T	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.A330T|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.A330T(1)									CTGTTCTACTGCAGCATTCTT	0.393																																					p.A330T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	3						.						273.0	265.0	268.0					3																	136574290		2203	4300	6503	138056980	SO:0001583	missense	80723	exon2			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.988G>A	3.37:g.136574290G>A	ENSP00000400839:p.Ala330Thr		138056980	NM_001097599		Missense_Mutation	SNP	ENST00000446465.2	37	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382664	0.61845	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.52526	0.66;0.66	5.93	5.93	0.95920	Drug/metabolite transporter (1);	0.389157	0.28533	N	0.015015	T	0.41119	0.1145	N	0.22421	0.69	0.51767	D	0.999934	B	0.18013	0.025	B	0.27170	0.077	T	0.16070	-1.0415	10	0.45353	T	0.12	.	18.8972	0.92429	0.0:0.0:1.0:0.0	.	330	Q8TBE7	TMM22_HUMAN	T	330	ENSP00000400839:A330T;ENSP00000376794:A330T	ENSP00000376794:A330T	A	+	1	0	TMEM22	138056980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.371000	0.73119	2.818000	0.97014	0.591000	0.81541	GCA		0.393	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
NCK1	4690	broad.mit.edu	37	3	136664729	136664729	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:136664729G>T	ENST00000481752.1	+	3	695	c.531G>T	c.(529-531)gaG>gaT	p.E177D	NCK1_ENST00000288986.2_Missense_Mutation_p.E177D|NCK1_ENST00000469404.1_Missense_Mutation_p.E113D			P16333	NCK1_HUMAN	NCK adaptor protein 1	177					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)	p.E177D(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTCTGTCAGAGAAATTAGCAG	0.438																																					p.E113D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	3						.						207.0	202.0	204.0					3																	136664729		2203	4300	6503	138147419	SO:0001583	missense	4690	exon2			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.531G>T	3.37:g.136664729G>T	ENSP00000417273:p.Glu177Asp		138147419	NM_001190796	B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802648	0.31869	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.68765	-0.32;-0.32;-0.35	6.16	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.31294	0.92	0.49389	D	0.99978	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.29882	-0.9997	10	0.19590	T	0.45	-8.8771	9.7147	0.40268	0.2226:0.0:0.7774:0.0	.	113;177	B7Z751;P16333	.;NCK1_HUMAN	D	177;177;113	ENSP00000288986:E177D;ENSP00000417273:E177D;ENSP00000419631:E113D	ENSP00000288986:E177D	E	+	3	2	NCK1	138147419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	0.496000	0.27904	0.650000	0.86243	GAG		0.438	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153	
DZIP1L	199221	broad.mit.edu	37	3	137811281	137811281	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:137811281T>G	ENST00000327532.2	-	5	1176	c.814A>C	c.(814-816)Aaa>Caa	p.K272Q	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.K272Q	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	272					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.K272Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CAAAATAATTTTTTTAGTTTA	0.333																																					p.K272Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A814C	3						.						117.0	123.0	121.0					3																	137811281		2203	4298	6501	139293971	SO:0001583	missense	199221	exon6			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.814A>C	3.37:g.137811281T>G	ENSP00000332148:p.Lys272Gln		139293971	NM_001170538	C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.189503	0.00302	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.40756	1.02;1.02	5.56	0.603	0.17541	.	0.405930	0.23688	N	0.045542	T	0.20414	0.0491	N	0.04636	-0.2	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.13282	-1.0515	10	0.18276	T	0.48	-1.8536	15.7426	0.77914	0.0:0.0:0.7845:0.2155	.	272;272	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	Q	272	ENSP00000332148:K272Q;ENSP00000419486:K272Q	ENSP00000332148:K272Q	K	-	1	0	DZIP1L	139293971	0.997000	0.39634	0.032000	0.17829	0.014000	0.08584	0.878000	0.28126	0.086000	0.17137	0.528000	0.53228	AAA		0.333	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543	
ARMC8	25852	broad.mit.edu	37	3	137983011	137983011	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:137983011G>A	ENST00000469044.1	+	14	1527	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R352Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R346Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R377Q|ARMC8_ENST00000481646.1_Missense_Mutation_p.R405Q|ARMC8_ENST00000538260.1_Missense_Mutation_p.R388Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R409Q|NME9_ENST00000383180.2_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	419								p.R405Q(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAGCAGCTTCGAACCAGTTTC	0.388																																					p.R405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	3						.						112.0	101.0	105.0					3																	137983011		1881	4115	5996	139465701	SO:0001583	missense	25852	exon15				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1256G>A	3.37:g.137983011G>A	ENSP00000419413:p.Arg419Gln		139465701	NM_015396	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.326414	0.95708	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;1.33;1.33;1.33;-0.15;1.54	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.91249	3.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.962;1.0	D;P;D;B;D	0.72982	0.952;0.895;0.974;0.194;0.979	D	0.86229	0.1636	10	0.59425	D	0.04	-19.7815	17.1328	0.86730	0.0:0.0:1.0:0.0	.	346;352;388;419;405	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	Q	405;419;377;352;346;388;409;313;276	ENSP00000420333:R405Q;ENSP00000419413:R419Q;ENSP00000417304:R377Q;ENSP00000420706:R352Q;ENSP00000417049:R346Q;ENSP00000441592:R388Q;ENSP00000376778:R409Q;ENSP00000417403:R313Q	ENSP00000376778:R409Q	R	+	2	0	ARMC8	139465701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.644000	0.89710	0.561000	0.74099	CGA		0.388	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
NME9	347736	broad.mit.edu	37	3	138022444	138022444	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:138022444A>G	ENST00000333911.3	-	10	860	c.833T>C	c.(832-834)gTc>gCc	p.V278A	NME9_ENST00000341790.5_Missense_Mutation_p.V215A|NME9_ENST00000317876.4_Missense_Mutation_p.V217A|NME9_ENST00000484930.1_Missense_Mutation_p.V215A|NME9_ENST00000536478.1_Missense_Mutation_p.V217A|NME9_ENST00000383180.2_Missense_Mutation_p.V217A			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	278	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.V217A(1)									GCTTCCATGGACGGCATTGAA	0.443																																					p.V217A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T650C	3						.						78.0	73.0	75.0					3																	138022444		2203	4300	6503	139505134	SO:0001583	missense	347736	exon11			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.833T>C	3.37:g.138022444A>G	ENSP00000335444:p.Val278Ala		139505134	NM_178130	Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.73|16.73	3.202831|3.202831	0.58234|0.58234	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911	.|T;T;T;T;T;T	.|0.60299	.|0.2;0.2;0.2;0.2;0.2;0.2	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.298215	.|0.31648	.|N	.|0.007290	T|T	0.61999|0.61999	0.2392|0.2392	.|.	.|.	.|.	0.40062|0.40062	D|D	0.975916|0.975916	.|B;P;P	.|0.44090	.|0.374;0.826;0.604	.|B;P;B	.|0.47603	.|0.204;0.551;0.234	T|T	0.65282|0.65282	-0.6206|-0.6206	4|9	.|0.49607	.|T	.|0.09	-16.4592|-16.4592	13.9736|13.9736	0.64257|0.64257	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|215;278;217	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	P|A	157|217;217;215;215;217;278	.|ENSP00000372667:V217A;ENSP00000321929:V217A;ENSP00000419882:V215A;ENSP00000341084:V215A;ENSP00000440143:V217A;ENSP00000335444:V278A	.|ENSP00000321929:V217A	S|V	-|-	1|2	0|0	TXNDC6|TXNDC6	139505134|139505134	1.000000|1.000000	0.71417|0.71417	0.697000|0.697000	0.30258|0.30258	0.450000|0.450000	0.32258|0.32258	6.761000|6.761000	0.74945|0.74945	2.188000|2.188000	0.69820|0.69820	0.459000|0.459000	0.35465|0.35465	TCC|GTC		0.443	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	
CEP70	80321	broad.mit.edu	37	3	138251381	138251381	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:138251381T>C	ENST00000264982.3	-	8	933	c.667A>G	c.(667-669)Aaa>Gaa	p.K223E	CEP70_ENST00000489254.1_Missense_Mutation_p.K71E|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.K223E|CEP70_ENST00000542237.1_Missense_Mutation_p.K203E|CEP70_ENST00000481834.1_Missense_Mutation_p.K223E	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	223					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)		p.K223E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCTAATTTTAGATTCATAG	0.303																																					p.K223E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A667G	3						.						41.0	42.0	42.0					3																	138251381		2193	4266	6459	139734071	SO:0001583	missense	80321	exon8			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.667A>G	3.37:g.138251381T>C	ENSP00000264982:p.Lys223Glu		139734071	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475671	0.63737	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419	T;T;T;T;T;T;T;T	0.46451	1.47;1.48;0.9;1.47;1.47;1.46;0.87;0.87	4.51	4.51	0.55191	.	0.279639	0.33959	N	0.004384	T	0.52980	0.1768	L	0.54323	1.7	0.31050	N	0.715273	D;D;D;D	0.67145	0.996;0.996;0.973;0.996	D;D;P;D	0.77557	0.986;0.981;0.64;0.99	T	0.51919	-0.8644	10	0.15066	T	0.55	-23.4854	10.141	0.42736	0.0:0.0:0.0:1.0	.	71;203;223;223	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	E	223;203;71;223;205;223;202;203	ENSP00000264982:K223E;ENSP00000444128:K203E;ENSP00000417821:K71E;ENSP00000419231:K223E;ENSP00000419833:K205E;ENSP00000417465:K223E;ENSP00000418131:K202E;ENSP00000417819:K203E	ENSP00000264982:K223E	K	-	1	0	CEP70	139734071	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.502000	0.45398	1.873000	0.54277	0.460000	0.39030	AAA		0.303	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
CNTN6	27255	broad.mit.edu	37	3	1424809	1424809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:1424809G>T	ENST00000446702.2	+	18	2977	c.2350G>T	c.(2350-2352)Gaa>Taa	p.E784*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.E712*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.E784*			Q9UQ52	CNTN6_HUMAN	contactin 6	784	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E784*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTATAATAATGAAGGAGAAGG	0.423																																					p.E784X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2350T	3						.						136.0	125.0	128.0					3																	1424809		2203	4300	6503	1399809	SO:0001587	stop_gained	27255	exon18			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2350G>T	3.37:g.1424809G>T	ENSP00000407822:p.Glu784*		1399809	NM_014461	Q2KHM2	Nonsense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	44	11.081793	0.99513	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	6.08	4.28	0.50868	.	0.093647	0.46758	D	0.000276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2714	0.31846	0.1359:0.1394:0.7247:0.0	.	.	.	.	X	784;712;784	.	ENSP00000341882:E784X	E	+	1	0	CNTN6	1399809	0.097000	0.21791	0.702000	0.30337	0.907000	0.53573	0.856000	0.27818	0.884000	0.36064	0.655000	0.94253	GAA		0.423	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
PIK3CB	5291	broad.mit.edu	37	3	138403619	138403619	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:138403619A>C	ENST00000477593.1	-	16	2236	c.2163T>G	c.(2161-2163)acT>acG	p.T721T	PIK3CB_ENST00000544716.1_Silent_p.T167T|PIK3CB_ENST00000289153.2_Silent_p.T721T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	721					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.T721T(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AACTATTTAAAGTTTTTAACT	0.353																																					p.T721T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2163G	3						.						73.0	73.0	73.0					3																	138403619		2203	4300	6503	139886309	SO:0001819	synonymous_variant	5291	exon15				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2163T>G	3.37:g.138403619A>C			139886309	NM_006219	D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	9.577	1.122641	0.20877	.	.	ENSG00000051382	ENST00000493568	.	.	.	5.78	-0.0718	0.13742	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	-18.1991	1.6301	0.02731	0.4127:0.226:0.2493:0.112	.	.	.	.	R	353	.	.	L	-	2	0	PIK3CB	139886309	0.875000	0.30112	1.000000	0.80357	0.988000	0.76386	0.004000	0.13106	0.432000	0.26286	0.482000	0.46254	CTT		0.353	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
COPB2	9276	broad.mit.edu	37	3	139090601	139090601	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:139090601G>A	ENST00000333188.5	-	10	1350	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	COPB2_ENST00000507777.1_Missense_Mutation_p.S361F	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	390					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.S390F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTCCTGAGCAGATCCAAAGCT	0.473																																					p.S390F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169T	3						.						181.0	158.0	166.0					3																	139090601		2203	4300	6503	140573291	SO:0001583	missense	9276	exon10			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1169C>T	3.37:g.139090601G>A	ENSP00000329419:p.Ser390Phe		140573291	NM_004766	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283338	0.80803	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D;D	0.90676	2.24;-2.71;-2.71	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	M	0.91818	3.245	0.80722	D	1	P	0.44816	0.844	P	0.55667	0.781	D	0.96039	0.9023	10	0.66056	D	0.02	-10.7881	19.7834	0.96426	0.0:0.0:1.0:0.0	.	390	P35606	COPB2_HUMAN	F	390;361;13	ENSP00000329419:S390F;ENSP00000422295:S361F;ENSP00000422917:S13F	ENSP00000329419:S390F	S	-	2	0	COPB2	140573291	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.790000	0.99075	2.682000	0.91365	0.561000	0.74099	TCT		0.473	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
CLSTN2	64084	broad.mit.edu	37	3	140185522	140185522	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:140185522C>T	ENST00000458420.3	+	8	1483	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	431					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.F431F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAAGGACTTCGACCAGGCTG	0.552										HNSCC(16;0.037)																											p.F431F	GBM(45;858 913 3709 36904 37282)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1293T	3						.						76.0	69.0	72.0					3																	140185522		2203	4300	6503	141668212	SO:0001819	synonymous_variant	64084	exon8			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1293C>T	3.37:g.140185522C>T			141668212	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	CCDS3112.1																																																																																				0.552	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
XPC	7508	broad.mit.edu	37	3	14212029	14212029	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14212029C>A	ENST00000285021.7	-	3	535	c.321G>T	c.(319-321)aaG>aaT	p.K107N	XPC_ENST00000449060.2_Missense_Mutation_p.K107N	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	107	Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.K107N(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGTGCCTTCTTGAGGTCAC	0.418			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.K107N		yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G321T	3						.						273.0	252.0	259.0					3																	14212029		1897	4122	6019	14187033	SO:0001583	missense	7508	exon3	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.321G>T	3.37:g.14212029C>A	ENSP00000285021:p.Lys107Asn		14187033	NM_001145769	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786198	0.49997	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000511155	T;T;T	0.53423	0.62;0.62;0.62	5.65	0.761	0.18448	.	0.605887	0.16260	N	0.222281	T	0.47078	0.1426	L	0.54323	1.7	0.09310	N	0.999995	B;D	0.53619	0.421;0.961	B;P	0.49637	0.203;0.617	T	0.35301	-0.9794	10	0.49607	T	0.09	-10.0556	8.4583	0.32912	0.0:0.4853:0.0:0.5147	.	107;107	E9PH69;Q01831	.;XPC_HUMAN	N	107;107;101	ENSP00000285021:K107N;ENSP00000404002:K107N;ENSP00000423867:K101N	ENSP00000285021:K107N	K	-	3	2	XPC	14187033	0.028000	0.19301	0.021000	0.16686	0.006000	0.05464	0.056000	0.14256	0.322000	0.23283	-0.143000	0.13931	AAG		0.418	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	
CLSTN2	64084	broad.mit.edu	37	3	140275467	140275467	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:140275467C>T	ENST00000458420.3	+	11	1977	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	596					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A596V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCCCAACGGCGGGTGTGCGG	0.577										HNSCC(16;0.037)																											p.A596V	GBM(45;858 913 3709 36904 37282)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1787T	3						.						103.0	92.0	96.0					3																	140275467		2203	4300	6503	141758157	SO:0001583	missense	64084	exon11			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1787C>T	3.37:g.140275467C>T	ENSP00000402460:p.Ala596Val		141758157	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023842	0.54683	.	.	ENSG00000158258	ENST00000458420	T	0.30182	1.54	5.39	4.51	0.55191	.	0.047031	0.85682	D	0.000000	T	0.25121	0.0610	L	0.57536	1.79	0.42780	D	0.993867	P	0.44659	0.84	B	0.31390	0.129	T	0.08806	-1.0704	9	.	.	.	-31.2745	12.5874	0.56424	0.0:0.9177:0.0:0.0823	.	596	Q9H4D0	CSTN2_HUMAN	V	596	ENSP00000402460:A596V	.	A	+	2	0	CLSTN2	141758157	0.998000	0.40836	0.147000	0.22382	0.491000	0.33493	4.936000	0.63506	1.405000	0.46838	0.563000	0.77884	GCG		0.577	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
LSM3	27258	broad.mit.edu	37	3	14223156	14223156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14223156C>T	ENST00000306024.3	+	2	621	c.118C>T	c.(118-120)Cga>Tga	p.R40*	XPC_ENST00000285021.7_5'Flank	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	40					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R40*(2)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CCGAGAGCTTCGAGGCAGATT	0.428																																					p.R40X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C118T	3						.						92.0	97.0	96.0					3																	14223156		2203	4300	6503	14198160	SO:0001587	stop_gained	27258	exon2			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.118C>T	3.37:g.14223156C>T	ENSP00000302160:p.Arg40*		14198160	NM_014463	Q6IAH0|Q9Y4Z1	Nonsense_Mutation	SNP	ENST00000306024.3	37	CCDS2619.1	.	.	.	.	.	.	.	.	.	.	C	42	9.444847	0.99172	.	.	ENSG00000170860	ENST00000306024	.	.	.	5.5	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9528	14.0025	0.64442	0.2744:0.7256:0.0:0.0	.	.	.	.	X	40	.	ENSP00000302160:R40X	R	+	1	2	LSM3	14198160	0.980000	0.34600	0.997000	0.53966	0.981000	0.71138	2.571000	0.45990	1.285000	0.44548	0.655000	0.94253	CGA		0.428	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252078.3	NM_014463	
TRIM42	287015	broad.mit.edu	37	3	140406786	140406786	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:140406786A>T	ENST00000286349.3	+	3	1453	c.1262A>T	c.(1261-1263)aAc>aTc	p.N421I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	421						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.N421S(1)|p.N421I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGAAAGTGAACGAGATGGAT	0.478																																					p.N421I												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.A1262T	3						.						95.0	89.0	91.0					3																	140406786		2203	4300	6503	141889476	SO:0001583	missense	287015	exon3			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1262A>T	3.37:g.140406786A>T	ENSP00000286349:p.Asn421Ile		141889476	NM_152616	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	7.103	0.574417	0.13623	.	.	ENSG00000155890	ENST00000286349	T	0.38077	1.16	5.33	4.1	0.47936	.	0.412269	0.22548	N	0.058638	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	P	0.36438	0.553	B	0.32465	0.146	T	0.09314	-1.0680	10	0.38643	T	0.18	-9.4073	8.8646	0.35278	0.8111:0.1889:0.0:0.0	.	421	Q8IWZ5	TRI42_HUMAN	I	421	ENSP00000286349:N421I	ENSP00000286349:N421I	N	+	2	0	TRIM42	141889476	0.000000	0.05858	0.394000	0.26270	0.371000	0.29859	0.591000	0.23969	2.162000	0.67917	0.454000	0.30748	AAC		0.478	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
PXYLP1	92370	broad.mit.edu	37	3	141011760	141011760	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:141011760C>A	ENST00000286353.4	+	6	1293	c.1156C>A	c.(1156-1158)Ctc>Atc	p.L386I	ACPL2_ENST00000508812.1_Missense_Mutation_p.L377I|ACPL2_ENST00000393010.2_Missense_Mutation_p.L386I|ACPL2_ENST00000393007.1_Missense_Mutation_p.L370I|ACPL2_ENST00000504264.1_Missense_Mutation_p.L369I|ACPL2_ENST00000502783.1_Missense_Mutation_p.L348I|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		386						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.L386I(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GTCACCAGTTCTCAGTGCCTT	0.537																																					p.L386I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1156A	3						.						176.0	145.0	156.0					3																	141011760		2203	4300	6503	142494450	SO:0001583	missense	92370	exon8																														ENST00000286353.4:c.1156C>A	3.37:g.141011760C>A	ENSP00000286353:p.Leu386Ile		142494450	NM_152282	D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	CCDS3116.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343420	0.61073	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.71296	2.17	0.58432	D	0.999999	D;D	0.67145	0.957;0.996	P;P	0.60886	0.86;0.88	T	0.59762	-0.7393	10	0.56958	D	0.05	.	10.3176	0.43747	0.0:0.911:0.0:0.089	.	369;386	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	I	386;348;386;369;377;370;194	ENSP00000286353:L386I;ENSP00000422558:L348I;ENSP00000376733:L386I;ENSP00000426877:L369I;ENSP00000422901:L377I;ENSP00000376731:L370I	ENSP00000286353:L386I	L	+	1	0	ACPL2	142494450	1.000000	0.71417	0.952000	0.39060	0.997000	0.91878	5.757000	0.68766	2.570000	0.86706	0.655000	0.94253	CTC		0.537	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		
RASA2	5922	broad.mit.edu	37	3	141295886	141295886	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:141295886C>A	ENST00000452898.1	+	15	1563	c.1528C>A	c.(1528-1530)Ctt>Att	p.L510I	RASA2_ENST00000286364.3_Missense_Mutation_p.L510I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	510	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L510I(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTTTGTATTTCTTCGTTTCTT	0.363																																					p.L510I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1528A	3						.						224.0	211.0	215.0					3																	141295886		2203	4300	6503	142778576	SO:0001583	missense	5922	exon15			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1528C>A	3.37:g.141295886C>A	ENSP00000391677:p.Leu510Ile		142778576	NM_006506	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37		.	.	.	.	.	.	.	.	.	.	C	33	5.229802	0.95173	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.27890	1.64;1.64	5.85	5.85	0.93711	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.76369	-0.2984	10	0.87932	D	0	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	102;510;510;510	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	I	510;510;102	ENSP00000286364:L510I;ENSP00000391677:L510I	ENSP00000286364:L510I	L	+	1	0	RASA2	142778576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.767000	0.95098	0.557000	0.71058	CTT		0.363	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506	
GRK7	131890	broad.mit.edu	37	3	141497325	141497325	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:141497325C>T	ENST00000264952.2	+	1	336	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	67	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R67C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCCATCGGTCGCCGCCTCTT	0.677																																					p.R67C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C199T	3						.						22.0	21.0	21.0					3																	141497325		2196	4280	6476	142980015	SO:0001583	missense	131890	exon1				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.199C>T	3.37:g.141497325C>T	ENSP00000264952:p.Arg67Cys		142980015	NM_139209		Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805066	0.50315	.	.	ENSG00000114124	ENST00000264952	T	0.02345	4.33	4.5	4.5	0.54988	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.227955	0.40302	N	0.001125	T	0.11110	0.0271	M	0.62723	1.935	0.42940	D	0.994342	D	0.89917	1.0	D	0.65773	0.938	T	0.00636	-1.1633	10	0.87932	D	0	-6.7824	12.3285	0.55024	0.2156:0.7844:0.0:0.0	.	67	Q8WTQ7	GRK7_HUMAN	C	67	ENSP00000264952:R67C	ENSP00000264952:R67C	R	+	1	0	GRK7	142980015	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	3.942000	0.56614	2.033000	0.60031	0.655000	0.94253	CGC		0.677	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209	
ATR	545	broad.mit.edu	37	3	142215936	142215936	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142215936C>T	ENST00000350721.4	-	33	5778	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q	ATR_ENST00000383101.3_Missense_Mutation_p.R1822Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1886	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1886Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CATTTCTAGTCGAGCTACCCA	0.448								Other conserved DNA damage response genes																													p.R1886Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5657A	3						.						84.0	91.0	89.0					3																	142215936		2203	4300	6503	143698626	SO:0001583	missense	545	exon33			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5657G>A	3.37:g.142215936C>T	ENSP00000343741:p.Arg1886Gln		143698626	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944702	0.92593	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	D;D	0.83506	-1.73;-1.73	5.39	4.51	0.55191	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.92705	0.6178	10	0.59425	D	0.04	-9.1816	15.4294	0.75081	0.14:0.86:0.0:0.0	.	1886	Q13535	ATR_HUMAN	Q	1886;1822	ENSP00000343741:R1886Q;ENSP00000372581:R1822Q	ENSP00000343741:R1886Q	R	-	2	0	ATR	143698626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	1.254000	0.44035	0.655000	0.94253	CGA		0.448	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142218533	142218533	+	Silent	SNP	C	C	T	rs146463402		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142218533C>T	ENST00000350721.4	-	31	5437	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T	ATR_ENST00000383101.3_Silent_p.T1708T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1772	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T1772T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCACTCTGTACGTGTTTAATT	0.338								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0008	0.0	5008	,	,		15431	0.0		0.0	False		,,,				2504	0.0				p.T1772T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5316A	3						.	C		1,4405	2.1+/-5.4	0,1,2202	132.0	129.0	130.0		5316	0.9	1.0	3	dbSNP_134	130	0,8600		0,0,4300	no	coding-synonymous	ATR	NM_001184.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1772/2645	142218533	1,13005	2203	4300	6503	143701223	SO:0001819	synonymous_variant	545	exon31			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5316G>A	3.37:g.142218533C>T			143701223	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	CCDS3124.1																																																																																				0.338	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142242849	142242849	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142242849C>A	ENST00000350721.4	-	22	4259	c.4138G>T	c.(4138-4140)Gat>Tat	p.D1380Y	ATR_ENST00000383101.3_Missense_Mutation_p.D1316Y	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1380					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D1380Y(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATGTAAAATCTTTTCCTTGA	0.373								Other conserved DNA damage response genes																													p.D1380Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4138T	3						.						99.0	95.0	96.0					3																	142242849		2203	4300	6503	143725539	SO:0001583	missense	545	exon22			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4138G>T	3.37:g.142242849C>A	ENSP00000343741:p.Asp1380Tyr		143725539	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314855	0.40996	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.03663	3.85;3.86	5.39	5.39	0.77823	Armadillo-like helical (1);	0.751958	0.12891	N	0.430604	T	0.05410	0.0143	L	0.42245	1.32	0.38189	D	0.939857	B	0.32731	0.382	B	0.26310	0.068	T	0.45190	-0.9278	10	0.49607	T	0.09	-21.2478	16.5018	0.84259	0.0:0.8693:0.1307:0.0	.	1380	Q13535	ATR_HUMAN	Y	1380;1316	ENSP00000343741:D1380Y;ENSP00000372581:D1316Y	ENSP00000343741:D1380Y	D	-	1	0	ATR	143725539	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.504000	0.35726	2.661000	0.90470	0.655000	0.94253	GAT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ATR	545	broad.mit.edu	37	3	142268419	142268419	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142268419G>A	ENST00000350721.4	-	15	3194	c.3073C>T	c.(3073-3075)Cgt>Tgt	p.R1025C	ATR_ENST00000383101.3_Missense_Mutation_p.R961C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1025					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1025C(2)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATCTCTCTACGATTGACATTT	0.363								Other conserved DNA damage response genes																													p.R1025C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C3073T	3						.						44.0	45.0	45.0					3																	142268419		2196	4299	6495	143751109	SO:0001583	missense	545	exon15			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3073C>T	3.37:g.142268419G>A	ENSP00000343741:p.Arg1025Cys		143751109	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540962	0.45280	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.65732	-0.17;-0.17	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.180025	0.49305	D	0.000153	T	0.50360	0.1611	L	0.27053	0.805	0.80722	D	1	B	0.27594	0.182	B	0.19148	0.024	T	0.44528	-0.9322	10	0.36615	T	0.2	-17.1135	17.7702	0.88489	0.0:0.0:1.0:0.0	.	1025	Q13535	ATR_HUMAN	C	1025;961	ENSP00000343741:R1025C;ENSP00000372581:R961C	ENSP00000343741:R1025C	R	-	1	0	ATR	143751109	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.124000	0.57924	2.635000	0.89317	0.655000	0.94253	CGT		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
TRPC1	7220	broad.mit.edu	37	3	142521062	142521062	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142521062C>A	ENST00000476941.1	+	10	2119	c.1633C>A	c.(1633-1635)Ctt>Att	p.L545I	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.L511I	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	545					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.L511I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGGGATGTTTCTTCTTGTTTT	0.338																																					p.L511I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1531A	3						.						103.0	104.0	104.0					3																	142521062		2203	4300	6503	144003752	SO:0001583	missense	7220	exon9			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1633C>A	3.37:g.142521062C>A	ENSP00000419313:p.Leu545Ile		144003752	NM_003304	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352392	0.82132	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98762	-5.12;-5.12	5.47	5.47	0.80525	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97105	0.9054	N	0.17474	0.49	0.80722	D	1	D;D;B	0.63046	0.98;0.992;0.067	P;P;B	0.57152	0.748;0.814;0.032	D	0.94452	0.7668	10	0.02654	T	1	-2.223	19.704	0.96066	0.0:1.0:0.0:0.0	.	511;545;511	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	I	545;511;64	ENSP00000419313:L545I;ENSP00000273482:L511I	ENSP00000273482:L511I	L	+	1	0	TRPC1	144003752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.736000	0.84948	2.726000	0.93360	0.650000	0.86243	CTT		0.338	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
PCOLCE2	26577	broad.mit.edu	37	3	142548549	142548549	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142548549A>C	ENST00000295992.3	-	6	1156	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	284					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.F284V(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTACAGGGAATGTGGTGGTG	0.363																																					p.F284V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T850G	3						.						158.0	147.0	151.0					3																	142548549		2203	4300	6503	144031239	SO:0001583	missense	26577	exon6			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.850T>G	3.37:g.142548549A>C	ENSP00000295992:p.Phe284Val		144031239	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	A	7.635	0.679654	0.14907	.	.	ENSG00000163710	ENST00000295992	T	0.18657	2.2	5.14	-10.3	0.00346	.	1.577250	0.03181	N	0.172083	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.10902	T	0.67	1.1122	14.4495	0.67374	0.2339:0.6191:0.147:0.0	.	284	Q9UKZ9	PCOC2_HUMAN	V	284	ENSP00000295992:F284V	ENSP00000295992:F284V	F	-	1	0	PCOLCE2	144031239	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-3.250000	0.00540	-1.342000	0.02222	-0.687000	0.03738	TTC		0.363	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
PCOLCE2	26577	broad.mit.edu	37	3	142606597	142606597	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142606597T>G	ENST00000295992.3	-	2	412	c.106A>C	c.(106-108)Att>Ctt	p.I36L	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.I36L|PCOLCE2_ENST00000461818.1_5'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	36	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.I36L(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGTAAGAATGCCACCACAT	0.368																																					p.I36L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A106C	3						.						71.0	71.0	71.0					3																	142606597		2203	4300	6503	144089287	SO:0001583	missense	26577	exon2			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.106A>C	3.37:g.142606597T>G	ENSP00000295992:p.Ile36Leu		144089287	NM_013363	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553241	0.45487	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.17691	2.26;2.26	5.66	-0.589	0.11683	CUB (5);	0.254503	0.43579	D	0.000558	T	0.09642	0.0237	N	0.21373	0.66	0.26760	N	0.970018	B	0.22800	0.075	B	0.25759	0.063	T	0.33007	-0.9885	10	0.22109	T	0.4	-8.1091	9.2504	0.37551	0.0:0.3922:0.0:0.6078	.	36	Q9UKZ9	PCOC2_HUMAN	L	36	ENSP00000295992:I36L;ENSP00000419842:I36L	ENSP00000295992:I36L	I	-	1	0	PCOLCE2	144089287	1.000000	0.71417	0.938000	0.37757	0.948000	0.59901	1.645000	0.37238	-0.098000	0.12285	-0.250000	0.11733	ATT		0.368	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	
PAQR9	344838	broad.mit.edu	37	3	142681362	142681362	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142681362G>A	ENST00000340634.3	-	1	816	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	273						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L273F(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TGCACGAAGAGTGTGGGGTTC	0.612																																					p.L273F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817T	3						.						59.0	61.0	61.0					3																	142681362		2203	4300	6503	144164052	SO:0001583	missense	344838	exon1			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.817C>T	3.37:g.142681362G>A	ENSP00000341564:p.Leu273Phe		144164052	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.235|8.235	0.805620|0.805620	0.16467|0.16467	.|.	.|.	ENSG00000188582|ENSG00000188582	ENST00000340634|ENST00000492509	T|T	0.27557|0.28666	1.66|1.6	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	0.178892|.	0.37304|.	N|.	0.002143|.	T|T	0.43433|0.43433	0.1247|0.1247	L|L	0.53249|0.53249	1.67|1.67	0.43564|0.43564	D|D	0.995886|0.995886	P|.	0.48230|.	0.907|.	P|.	0.55965|.	0.788|.	T|T	0.22977|0.22977	-1.0201|-1.0201	10|7	0.09843|0.37606	T|T	0.71|0.19	-47.4827|-47.4827	15.9798|15.9798	0.80097|0.80097	0.0:0.0:0.8642:0.1358|0.0:0.0:0.8642:0.1358	.|.	273|.	Q6ZVX9|.	PAQR9_HUMAN|.	F|I	273|13	ENSP00000341564:L273F|ENSP00000417945:T13I	ENSP00000341564:L273F|ENSP00000417945:T13I	L|T	-|-	1|2	0|0	PAQR9|PAQR9	144164052|144164052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	5.665000|5.665000	0.68052|0.68052	1.368000|1.368000	0.46115|0.46115	0.655000|0.655000	0.94253|0.94253	CTC|ACT		0.612	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
PAQR9	344838	broad.mit.edu	37	3	142681596	142681596	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142681596G>A	ENST00000340634.3	-	1	582	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	195						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R195C(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGCCCAGGCGCTGCTGCAAG	0.642																																					p.R195C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	3						.						28.0	28.0	28.0					3																	142681596		2203	4300	6503	144164286	SO:0001583	missense	344838	exon1			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.583C>T	3.37:g.142681596G>A	ENSP00000341564:p.Arg195Cys		144164286	NM_198504	Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192373	0.58017	.	.	ENSG00000188582	ENST00000340634	T	0.24151	1.87	4.9	2.91	0.33838	.	0.127687	0.33834	N	0.004519	T	0.28566	0.0707	L	0.38175	1.15	0.41127	D	0.985852	D	0.55172	0.97	P	0.51266	0.664	T	0.06391	-1.0829	10	0.54805	T	0.06	-37.1054	12.3594	0.55194	0.0:0.0:0.565:0.435	.	195	Q6ZVX9	PAQR9_HUMAN	C	195	ENSP00000341564:R195C	ENSP00000341564:R195C	R	-	1	0	PAQR9	144164286	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.948000	0.40303	1.145000	0.42336	0.561000	0.74099	CGC		0.642	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
U2SURP	23350	broad.mit.edu	37	3	142741903	142741903	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:142741903G>A	ENST00000473835.2	+	12	1317	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	U2SURP_ENST00000493598.2_Silent_p.E408E|U2SURP_ENST00000397933.2_Missense_Mutation_p.R15K	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	409					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E409E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGGATTTTGAGAAGGTAATTT	0.373																																					p.E409E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1227A	3						.						25.0	23.0	23.0					3																	142741903		1824	4085	5909	144224593	SO:0001819	synonymous_variant	23350	exon12			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1227G>A	3.37:g.142741903G>A			144224593	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943705	0.53079	.	.	ENSG00000163714	ENST00000397933	.	.	.	5.93	5.04	0.67666	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.30131	N	0.804765	P	0.47841	0.901	B	0.39465	0.3	T	0.46735	-0.9170	7	0.72032	D	0.01	-10.3109	16.2738	0.82634	0.0:0.0:0.8663:0.1336	.	15	O15042-3	.	K	15	.	ENSP00000381027:R15K	R	+	2	0	U2SURP	144224593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.012000	0.64017	1.465000	0.48006	0.655000	0.94253	AGA		0.373	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
SLC9A9	285195	broad.mit.edu	37	3	143214197	143214197	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:143214197G>T	ENST00000316549.6	-	10	1391	c.1183C>A	c.(1183-1185)Ctt>Att	p.L395I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	395					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.L395I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGTATAAAAAGAGCATTAAAG	0.358																																					p.L395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183A	3						.						92.0	95.0	94.0					3																	143214197		2203	4300	6503	144696887	SO:0001583	missense	285195	exon10			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1183C>A	3.37:g.143214197G>T	ENSP00000320246:p.Leu395Ile		144696887	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715137	0.30413	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15017	2.46	5.79	4.01	0.46588	Cation/H+ exchanger (1);	0.091087	0.42548	D	0.000692	T	0.10723	0.0262	N	0.10645	0.015	0.33510	D	0.59103	P	0.42296	0.775	B	0.43658	0.426	T	0.20538	-1.0272	10	0.21014	T	0.42	.	12.5724	0.56344	0.1937:0.0:0.8063:0.0	.	395	Q8IVB4	SL9A9_HUMAN	I	395;278	ENSP00000320246:L395I	ENSP00000320246:L395I	L	-	1	0	SLC9A9	144696887	1.000000	0.71417	0.886000	0.34754	0.643000	0.38383	2.041000	0.41213	0.395000	0.25257	-1.579000	0.00862	CTT		0.358	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
SLC9A9	285195	broad.mit.edu	37	3	143550976	143550976	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:143550976A>G	ENST00000316549.6	-	2	471	c.263T>C	c.(262-264)tTc>tCc	p.F88S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	88					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.F88S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TGATGGACTGAAAGTTAGTTT	0.333																																					p.F88S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T263C	3						.						168.0	162.0	164.0					3																	143550976		2203	4300	6503	145033666	SO:0001583	missense	285195	exon2			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.263T>C	3.37:g.143550976A>G	ENSP00000320246:p.Phe88Ser		145033666	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	A	3.394	-0.123701	0.06795	.	.	ENSG00000181804	ENST00000316549;ENST00000474151	T;T	0.23147	1.92;1.92	5.14	5.14	0.70334	Cation/H+ exchanger (1);	0.233431	0.39083	N	0.001462	T	0.05823	0.0152	N	0.00707	-1.245	0.35638	D	0.810738	B	0.06786	0.001	B	0.06405	0.002	T	0.29397	-1.0013	10	0.08381	T	0.77	.	4.2563	0.10719	0.6751:0.2059:0.119:0.0	.	88	Q8IVB4	SL9A9_HUMAN	S	88	ENSP00000320246:F88S;ENSP00000418627:F88S	ENSP00000320246:F88S	F	-	2	0	SLC9A9	145033666	0.993000	0.37304	0.999000	0.59377	0.983000	0.72400	0.939000	0.28978	2.285000	0.76669	0.533000	0.62120	TTC		0.333	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
C3orf58	205428	broad.mit.edu	37	3	143704466	143704466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:143704466G>T	ENST00000315691.3	+	2	1274	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	C3orf58_ENST00000441925.2_Nonsense_Mutation_p.E9*|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Nonsense_Mutation_p.E38*	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	247					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.E247*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATGTTGGAGAAGAACTGTG	0.393																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	3						.						160.0	156.0	157.0					3																	143704466		2203	4300	6503	145187156	SO:0001587	stop_gained	205428	exon2			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.739G>T	3.37:g.143704466G>T	ENSP00000320081:p.Glu247*		145187156	NM_173552	B2RCF2|B7Z1W3	Nonsense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661188	0.88154	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	.	.	.	5.24	5.24	0.73138	.	0.047774	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	18.8382	0.92171	0.0:0.0:1.0:0.0	.	.	.	.	X	247;38;53;9	.	ENSP00000320081:E247X	E	+	1	0	C3orf58	145187156	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.461000	0.83175	0.655000	0.94253	GAA		0.393	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
C3orf58	205428	broad.mit.edu	37	3	143704598	143704598	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:143704598G>T	ENST00000315691.3	+	2	1406	c.871G>T	c.(871-873)Gac>Tac	p.D291Y	C3orf58_ENST00000441925.2_Missense_Mutation_p.D53Y|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D82Y	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	291					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.D291Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGTCAGCTTTGACAATTTTGC	0.383																																					p.D291Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G871T	3						.						159.0	144.0	149.0					3																	143704598		2203	4300	6503	145187288	SO:0001583	missense	205428	exon2			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.871G>T	3.37:g.143704598G>T	ENSP00000320081:p.Asp291Tyr		145187288	NM_173552	B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397918	0.83120	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.35605	1.3	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	L	0.58428	1.81	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.83275	0.796;0.996	T	0.61637	-0.7022	10	0.72032	D	0.01	.	18.5536	0.91075	0.0:0.0:1.0:0.0	.	82;291	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	Y	291;82;97;53	ENSP00000320081:D291Y	ENSP00000320081:D291Y	D	+	1	0	C3orf58	145187288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.392000	0.81423	0.563000	0.77884	GAC		0.383	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
C3orf20	84077	broad.mit.edu	37	3	14724418	14724418	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14724418C>A	ENST00000253697.3	+	3	650	c.198C>A	c.(196-198)atC>atA	p.I66I	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	66						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.I66I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CGTCCGACATCTTGGGCCTGG	0.547																																					p.I66I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198A	3						.						108.0	107.0	107.0					3																	14724418		2203	4300	6503	14699422	SO:0001819	synonymous_variant	84077	exon3			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.198C>A	3.37:g.14724418C>A			14699422	NM_032137	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	CCDS33706.1																																																																																				0.547	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
C3orf20	84077	broad.mit.edu	37	3	14731588	14731588	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14731588C>A	ENST00000253697.3	+	5	1162	c.710C>A	c.(709-711)tCt>tAt	p.S237Y	C3orf20_ENST00000412910.1_Missense_Mutation_p.S115Y|C3orf20_ENST00000435614.1_Missense_Mutation_p.S115Y	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	237						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S237Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGAGCTTTTCTCTCTCTGCT	0.527																																					p.S115Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344A	3						.						90.0	89.0	89.0					3																	14731588		2203	4300	6503	14706592	SO:0001583	missense	84077	exon5			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.710C>A	3.37:g.14731588C>A	ENSP00000253697:p.Ser237Tyr		14706592	NM_001184958	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058712	0.55325	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.14022	2.82;2.54;2.54	4.56	4.56	0.56223	.	0.000000	0.40222	N	0.001142	T	0.25606	0.0623	L	0.36672	1.1	0.37229	D	0.905601	D	0.69078	0.997	D	0.66979	0.948	T	0.07829	-1.0752	10	0.87932	D	0	-18.0468	13.1961	0.59738	0.0:1.0:0.0:0.0	.	237	Q8ND61	CC020_HUMAN	Y	237;115;115	ENSP00000253697:S237Y;ENSP00000402933:S115Y;ENSP00000396081:S115Y	ENSP00000253697:S237Y	S	+	2	0	C3orf20	14706592	0.987000	0.35691	1.000000	0.80357	0.569000	0.35902	3.118000	0.50414	2.243000	0.73865	0.491000	0.48974	TCT		0.527	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
C3orf20	84077	broad.mit.edu	37	3	14745916	14745916	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14745916G>T	ENST00000253697.3	+	7	1403	c.951G>T	c.(949-951)aaG>aaT	p.K317N	C3orf20_ENST00000412910.1_Missense_Mutation_p.K195N|C3orf20_ENST00000435614.1_Missense_Mutation_p.K195N|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	317						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K317N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACAAGGCAAAGATGCCCTCTC	0.512																																					p.K195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G585T	3						.						124.0	130.0	128.0					3																	14745916		2203	4300	6503	14720920	SO:0001583	missense	84077	exon7			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.951G>T	3.37:g.14745916G>T	ENSP00000253697:p.Lys317Asn		14720920	NM_001184958	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726087	0.30593	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.13307	2.89;2.6;2.6	4.91	3.08	0.35506	.	0.286201	0.24957	N	0.034249	T	0.08537	0.0212	N	0.20986	0.625	0.09310	N	1	B	0.23735	0.09	B	0.22601	0.04	T	0.23332	-1.0191	10	0.46703	T	0.11	-12.8041	6.4231	0.21754	0.0961:0.0:0.7252:0.1786	.	317	Q8ND61	CC020_HUMAN	N	317;195;195	ENSP00000253697:K317N;ENSP00000402933:K195N;ENSP00000396081:K195N	ENSP00000253697:K317N	K	+	3	2	C3orf20	14720920	0.105000	0.21958	0.130000	0.21974	0.211000	0.24417	0.379000	0.20585	1.054000	0.40438	0.585000	0.79938	AAG		0.512	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
C3orf58	205428	broad.mit.edu	37	3	143708552	143708552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:143708552G>T	ENST00000315691.3	+	3	1697	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	C3orf58_ENST00000441925.2_Nonsense_Mutation_p.E150*|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Nonsense_Mutation_p.E179*	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	388					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)		p.E388*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCACCAAGTGAAATTGCCAA	0.512																																					p.E388X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1162T	3						.						103.0	105.0	104.0					3																	143708552		2203	4300	6503	145191242	SO:0001587	stop_gained	205428	exon3			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1162G>T	3.37:g.143708552G>T	ENSP00000320081:p.Glu388*		145191242	NM_173552	B2RCF2|B7Z1W3	Nonsense_Mutation	SNP	ENST00000315691.3	37	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258030	0.80246	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	.	.	.	5.91	5.91	0.95273	.	0.107783	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	388;179;194;150	.	ENSP00000320081:E388X	E	+	1	0	C3orf58	145191242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.133000	0.77259	2.793000	0.96121	0.655000	0.94253	GAA		0.512	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552	
PLOD2	5352	broad.mit.edu	37	3	145790389	145790389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:145790389C>A	ENST00000360060.3	-	16	1921	c.1744G>T	c.(1744-1746)Gaa>Taa	p.E582*	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.E548*|PLOD2_ENST00000461497.1_Nonsense_Mutation_p.E263*|PLOD2_ENST00000282903.5_Nonsense_Mutation_p.E603*	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	582					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.E603*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TGTTCCATTTCTTCTACCAAT	0.368																																					p.E582X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1744T	3						.						118.0	106.0	110.0					3																	145790389		2203	4300	6503	147273079	SO:0001587	stop_gained	5352	exon16			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1744G>T	3.37:g.145790389C>A	ENSP00000353170:p.Glu582*		147273079	NM_000935	B3KWS3|Q59ED2|Q8N170	Nonsense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	40	7.968004	0.98585	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0867	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	X	263;603;582;548	.	ENSP00000282903:E603X	E	-	1	0	PLOD2	147273079	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.818000	0.86416	2.818000	0.97014	0.655000	0.94253	GAA		0.368	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
PLSCR4	57088	broad.mit.edu	37	3	145917660	145917660	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:145917660T>G	ENST00000354952.2	-	6	804	c.564A>C	c.(562-564)acA>acC	p.T188T	PLSCR4_ENST00000446574.2_Silent_p.T188T|PLSCR4_ENST00000493382.1_Silent_p.T188T|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	188					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.T188T(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GTCTCTGCATTGTCATGATTT	0.507																																					p.T188T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A564C	3						.						101.0	96.0	97.0					3																	145917660		2203	4300	6503	147400350	SO:0001819	synonymous_variant	57088	exon6			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.564A>C	3.37:g.145917660T>G			147400350	NM_020353	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Silent	SNP	ENST00000354952.2	37	CCDS3133.1																																																																																				0.507	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353	
FGD5	152273	broad.mit.edu	37	3	14862558	14862558	+	Silent	SNP	G	G	A	rs368388794		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:14862558G>A	ENST00000285046.5	+	1	2090	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	FGD5_ENST00000543601.1_Silent_p.T419T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	660					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.T660T(1)|p.T419T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCACTGACGTTTAAGAAGA	0.512																																					p.T660T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1980A	3						.	G		1,3951		0,1,1975	82.0	81.0	81.0		1980	-10.6	0.0	3		81	0,8340		0,0,4170	no	coding-synonymous	FGD5	NM_152536.3		0,1,6145	AA,AG,GG		0.0,0.0253,0.0081		660/1463	14862558	1,12291	1976	4170	6146	14837562	SO:0001819	synonymous_variant	152273	exon1			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1980G>A	3.37:g.14862558G>A			14837562	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1																																																																																				0.512	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
PLSCR4	57088	broad.mit.edu	37	3	145917752	145917752	+	Missense_Mutation	SNP	C	C	T	rs539660710		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:145917752C>T	ENST00000354952.2	-	6	712	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	PLSCR4_ENST00000446574.2_Missense_Mutation_p.E158K|PLSCR4_ENST00000493382.1_Missense_Mutation_p.E158K|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	158					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.E158K(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCTGTGTCTTCGGTTACAATG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18432	0.0		0.0	False		,,,				2504	0.001				p.E158K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	3						.						97.0	95.0	96.0					3																	145917752		2203	4300	6503	147400442	SO:0001583	missense	57088	exon6			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.472G>A	3.37:g.145917752C>T	ENSP00000347038:p.Glu158Lys		147400442	NM_020353	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391074	0.82902	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.31510	1.56;1.56;1.56;1.49;1.49	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000006	T	0.62122	0.2402	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69161	-0.5218	10	0.87932	D	0	.	17.3112	0.87211	0.0:1.0:0.0:0.0	.	158	Q9NRQ2	PLS4_HUMAN	K	158	ENSP00000347038:E158K;ENSP00000399315:E158K;ENSP00000419040:E158K;ENSP00000417896:E158K;ENSP00000418173:E158K	ENSP00000347038:E158K	E	-	1	0	PLSCR4	147400442	1.000000	0.71417	0.959000	0.39883	0.370000	0.29829	6.282000	0.72639	2.683000	0.91414	0.655000	0.94253	GAA		0.383	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353	
ZIC4	84107	broad.mit.edu	37	3	147108722	147108722	+	Missense_Mutation	SNP	C	C	T	rs372909087		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:147108722C>T	ENST00000383075.3	-	4	1512	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	ZIC4_ENST00000473123.1_Missense_Mutation_p.E334K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E334K|ZIC4_ENST00000525172.2_Missense_Mutation_p.E384K|ZIC4_ENST00000425731.3_Missense_Mutation_p.E372K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E128K|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	334						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E334K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACGTACCATTCGCTCAAGTCG	0.726																																					p.E384K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150A	3						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,3930		0,0,1965	11.0	14.0	13.0		1150,1114,1000	5.2	1.0	3		13	1,8115		0,1,4057	no	missense,missense,missense	ZIC4	NM_001168378.1,NM_001168379.1,NM_032153.5	56,56,56	0,1,6022	TT,TC,CC		0.0123,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging	384/385,372/373,334/335	147108722	1,12045	1965	4058	6023	148591412	SO:0001583	missense	84107	exon4			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.1000G>A	3.37:g.147108722C>T	ENSP00000372553:p.Glu334Lys		148591412	NM_001168378	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567776	0.86439	0.0	1.23E-4	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.13420	2.85;2.63;2.59;2.85;2.85;2.86	5.18	5.18	0.71444	.	0.000000	0.47455	D	0.000234	T	0.31295	0.0792	M	0.67397	2.05	0.39075	D	0.960788	D;D	0.76494	0.999;0.998	P;P	0.55222	0.771;0.709	T	0.19745	-1.0296	9	0.87932	D	0	.	18.2828	0.90103	0.0:1.0:0.0:0.0	.	384;334	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	K	334;372;384;334;334;128	ENSP00000372553:E334K;ENSP00000397695:E372K;ENSP00000435509:E384K;ENSP00000417855:E334K;ENSP00000420775:E334K;ENSP00000418277:E128K	ENSP00000372553:E334K	E	-	1	0	ZIC4	148591412	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	3.019000	0.49635	2.406000	0.81754	0.561000	0.74099	GAA		0.726	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1		
ZIC1	7545	broad.mit.edu	37	3	147128456	147128456	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:147128456C>T	ENST00000282928.4	+	1	1286	c.557C>T	c.(556-558)tCg>tTg	p.S186L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	186					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S186L(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCCGCGTTCGGAGCACTAT	0.672																																					p.S186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	3						.						38.0	42.0	40.0					3																	147128456		2203	4299	6502	148611146	SO:0001583	missense	7545	exon1			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.557C>T	3.37:g.147128456C>T	ENSP00000282928:p.Ser186Leu		148611146	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849077	0.51270	.	.	ENSG00000152977	ENST00000282928	T	0.34859	1.34	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	N	0.22421	0.69	0.58432	D	0.999999	B	0.31655	0.334	B	0.26416	0.069	T	0.26360	-1.0105	10	0.72032	D	0.01	.	15.1323	0.72533	0.0:1.0:0.0:0.0	.	186	Q15915	ZIC1_HUMAN	L	186	ENSP00000282928:S186L	ENSP00000282928:S186L	S	+	2	0	ZIC1	148611146	0.995000	0.38212	0.993000	0.49108	0.965000	0.64279	7.329000	0.79170	1.847000	0.53656	0.549000	0.68633	TCG		0.672	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
ZIC1	7545	broad.mit.edu	37	3	147128499	147128499	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:147128499G>T	ENST00000282928.4	+	1	1329	c.600G>T	c.(598-600)atG>atT	p.M200I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	200					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M200I(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACGGGCCCATGAACGTGAACA	0.657																																					p.M200I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G600T	3						.						42.0	45.0	44.0					3																	147128499		2203	4299	6502	148611189	SO:0001583	missense	7545	exon1			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.600G>T	3.37:g.147128499G>T	ENSP00000282928:p.Met200Ile		148611189	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823632	0.50739	.	.	ENSG00000152977	ENST00000282928	T	0.41758	0.99	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	L	0.46157	1.445	0.80722	D	1	B	0.26876	0.162	B	0.30943	0.122	T	0.46303	-0.9201	10	0.54805	T	0.06	.	15.1323	0.72533	0.0:0.0:1.0:0.0	.	200	Q15915	ZIC1_HUMAN	I	200	ENSP00000282928:M200I	ENSP00000282928:M200I	M	+	3	0	ZIC1	148611189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.286000	0.78671	1.847000	0.53656	0.549000	0.68633	ATG		0.657	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
AGTR1	185	broad.mit.edu	37	3	148459237	148459237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148459237C>T	ENST00000497524.1	+	2	806	c.415C>T	c.(415-417)Cga>Tga	p.R139*	AGTR1_ENST00000404754.2_Nonsense_Mutation_p.R139*|AGTR1_ENST00000542281.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000418473.2_Nonsense_Mutation_p.R139*|AGTR1_ENST00000475347.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000461609.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000474935.1_Nonsense_Mutation_p.R139*|AGTR1_ENST00000349243.3_Nonsense_Mutation_p.R139*|AGTR1_ENST00000402260.1_Nonsense_Mutation_p.R139*	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	139					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.R139*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTCCCGCCTTCGACGCACAAT	0.478																																					p.R139X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C415T	3						.						125.0	119.0	121.0					3																	148459237		2203	4300	6503	149941927	SO:0001587	stop_gained	185	exon3			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.415C>T	3.37:g.148459237C>T	ENSP00000419422:p.Arg139*		149941927	NM_032049	Q13725|Q8TBK4	Nonsense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	38	6.949390	0.97956	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	.	.	.	5.8	5.8	0.92144	.	0.210147	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-9.1599	20.0706	0.97721	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000273430:R139X	R	+	1	2	AGTR1	149941927	0.920000	0.31207	0.997000	0.53966	0.992000	0.81027	1.869000	0.39519	2.744000	0.94065	0.655000	0.94253	CGA		0.478	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
AGTR1	185	broad.mit.edu	37	3	148459606	148459606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148459606C>A	ENST00000497524.1	+	2	1175	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	AGTR1_ENST00000404754.2_Missense_Mutation_p.L262M|AGTR1_ENST00000542281.1_Missense_Mutation_p.L262M|AGTR1_ENST00000418473.2_Missense_Mutation_p.L262M|AGTR1_ENST00000475347.1_Missense_Mutation_p.L262M|AGTR1_ENST00000461609.1_Missense_Mutation_p.L262M|AGTR1_ENST00000474935.1_Missense_Mutation_p.L262M|AGTR1_ENST00000349243.3_Missense_Mutation_p.L262M|AGTR1_ENST00000402260.1_Missense_Mutation_p.L262M	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	262					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.L262M(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTCACTTTTCTGGATGTATT	0.343																																					p.L262M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784A	3						.						76.0	77.0	77.0					3																	148459606		2203	4300	6503	149942296	SO:0001583	missense	185	exon3			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.784C>A	3.37:g.148459606C>A	ENSP00000419422:p.Leu262Met		149942296	NM_032049	Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055737	0.19907	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.76	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.120855	0.56097	N	0.000033	T	0.31231	0.0790	L	0.33792	1.035	0.44595	D	0.997562	B	0.30793	0.295	B	0.35353	0.201	T	0.05037	-1.0910	10	0.35671	T	0.21	-3.0144	7.8396	0.29391	0.1286:0.7245:0.0:0.147	.	262	P30556	AGTR1_HUMAN	M	262	ENSP00000419422:L262M;ENSP00000273430:L262M;ENSP00000443186:L262M;ENSP00000398832:L262M;ENSP00000385612:L262M;ENSP00000419783:L262M;ENSP00000418084:L262M;ENSP00000418851:L262M;ENSP00000385641:L262M	ENSP00000273430:L262M	L	+	1	2	AGTR1	149942296	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	1.959000	0.40412	0.275000	0.22094	0.655000	0.94253	CTG		0.343	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
CPA3	1359	broad.mit.edu	37	3	148586763	148586763	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148586763G>A	ENST00000296046.3	+	3	258	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	69					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R69Q(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTGGATTTCCGAGTTAGTGAG	0.418																																					p.R69Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	3						.						137.0	114.0	122.0					3																	148586763		2203	4300	6503	150069453	SO:0001583	missense	1359	exon3				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.206G>A	3.37:g.148586763G>A	ENSP00000296046:p.Arg69Gln		150069453	NM_001870	Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217068	0.39201	.	.	ENSG00000163751	ENST00000296046	T	0.15256	2.44	5.45	0.589	0.17452	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.573029	0.17237	N	0.181697	T	0.13927	0.0337	M	0.67569	2.06	0.31195	N	0.700526	B	0.31730	0.337	B	0.27076	0.076	T	0.11324	-1.0592	10	0.26408	T	0.33	.	4.7148	0.12889	0.4679:0.0:0.3843:0.1479	.	69	P15088	CBPA3_HUMAN	Q	69	ENSP00000296046:R69Q	ENSP00000296046:R69Q	R	+	2	0	CPA3	150069453	0.977000	0.34250	0.998000	0.56505	0.987000	0.75469	0.027000	0.13621	0.279000	0.22186	0.655000	0.94253	CGA		0.418	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870	
HLTF	6596	broad.mit.edu	37	3	148757468	148757468	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148757468T>G	ENST00000310053.5	-	22	2708	c.2515A>C	c.(2515-2517)Atg>Ctg	p.M839L	HLTF_ENST00000392912.2_Missense_Mutation_p.M839L|HLTF_ENST00000465259.1_Missense_Mutation_p.M838L|HLTF_ENST00000494055.1_Missense_Mutation_p.M839L	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	839	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M839L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATGCGTGCATTAGCGCATTA	0.294																																					p.M839L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.A2515C	3						.						50.0	50.0	50.0					3																	148757468		2201	4291	6492	150240158	SO:0001583	missense	6596	exon22			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2515A>C	3.37:g.148757468T>G	ENSP00000308944:p.Met839Leu		150240158	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344971	0.41498	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.89	5.89	0.94794	Helicase, C-terminal (1);	.	.	.	.	T	0.43144	0.1234	N	0.03016	-0.435	0.58432	D	0.999997	P;P;P	0.39480	0.493;0.675;0.493	B;B;B	0.35413	0.155;0.202;0.155	T	0.55528	-0.8127	9	0.06236	T	0.91	-20.4239	15.9856	0.80151	0.0:0.0:0.0:1.0	.	839;839;839	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	L	838;839;839;839;307	ENSP00000420745:M838L;ENSP00000308944:M839L;ENSP00000376644:M839L;ENSP00000420429:M839L;ENSP00000420106:M307L	ENSP00000308944:M839L	M	-	1	0	HLTF	150240158	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.234000	0.65343	2.254000	0.74563	0.528000	0.53228	ATG		0.294	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HLTF	6596	broad.mit.edu	37	3	148768141	148768141	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148768141T>G	ENST00000310053.5	-	15	1688	c.1495A>C	c.(1495-1497)Aaa>Caa	p.K499Q	HLTF_ENST00000392912.2_Missense_Mutation_p.K499Q|HLTF_ENST00000494055.1_Missense_Mutation_p.K499Q|HLTF_ENST00000465259.1_Missense_Mutation_p.K498Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	499	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K499Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACATCTGATTTTATATGTTGT	0.308																																					p.K499Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1495C	3						.						57.0	61.0	60.0					3																	148768141		2201	4291	6492	150250831	SO:0001583	missense	6596	exon15			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1495A>C	3.37:g.148768141T>G	ENSP00000308944:p.Lys499Gln		150250831	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472392	0.63737	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.73	4.56	0.56223	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.92267	0.7547	L	0.52364	1.645	0.35084	D	0.763724	P;D;P	0.54601	0.93;0.967;0.93	P;P;P	0.52627	0.63;0.704;0.63	D	0.92194	0.5762	9	0.39692	T	0.17	-11.7036	7.2827	0.26320	0.0:0.0759:0.1478:0.7763	.	499;499;499	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	498;499;499;499	ENSP00000420745:K498Q;ENSP00000308944:K499Q;ENSP00000376644:K499Q;ENSP00000420429:K499Q	ENSP00000308944:K499Q	K	-	1	0	HLTF	150250831	0.947000	0.32204	1.000000	0.80357	0.998000	0.95712	2.240000	0.43088	0.970000	0.38263	0.528000	0.53228	AAA		0.308	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HLTF	6596	broad.mit.edu	37	3	148789435	148789435	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148789435C>T	ENST00000310053.5	-	6	830	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	HLTF_ENST00000392912.2_Missense_Mutation_p.E213K|HLTF_ENST00000465259.1_Missense_Mutation_p.E213K|HLTF_ENST00000494055.1_Missense_Mutation_p.E213K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	213				KTE -> PEF (in Ref. 6; AAB27691). {ECO:0000305}.	chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E213K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259																																					p.E213K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637A	3						.						54.0	53.0	53.0					3																	148789435		2196	4294	6490	150272125	SO:0001583	missense	6596	exon6			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.637G>A	3.37:g.148789435C>T	ENSP00000308944:p.Glu213Lys		150272125	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928383	0.92389	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.92	4.92	0.64577	.	.	.	.	.	D	0.89382	0.6699	L	0.34521	1.04	0.54753	D	0.999987	D;D;D	0.63046	0.972;0.992;0.992	P;P;P	0.57425	0.632;0.784;0.82	D	0.88009	0.2761	9	0.30854	T	0.27	-2.1684	17.2515	0.87043	0.0:1.0:0.0:0.0	.	213;213;213	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	K	213;213;213;213;210;210	ENSP00000420745:E213K;ENSP00000308944:E213K;ENSP00000376644:E213K;ENSP00000420429:E213K	ENSP00000308944:E213K	E	-	1	0	HLTF	150272125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.504000	0.73704	2.431000	0.82371	0.655000	0.94253	GAA		0.259	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HPS3	84343	broad.mit.edu	37	3	148872896	148872896	+	Missense_Mutation	SNP	C	C	T	rs371551313		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148872896C>T	ENST00000296051.2	+	8	1543	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	HPS3_ENST00000460120.1_Missense_Mutation_p.S303L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	468					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.S468L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCTTTTAGTTCGAGAAAAGAT	0.303									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.001				p.S468L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1403T	3						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	95.0	100.0	98.0		1403	4.0	1.0	3		98	0,8600		0,0,4300	no	missense	HPS3	NM_032383.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	468/1005	148872896	1,13005	2203	4300	6503	150355586	SO:0001583	missense	84343	exon8	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1403C>T	3.37:g.148872896C>T	ENSP00000296051:p.Ser468Leu		150355586	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992880	0.54041	2.27E-4	0.0	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.71341	-0.56;-0.54	4.89	4.0	0.46444	.	0.188459	0.46442	D	0.000293	T	0.80654	0.4664	M	0.66939	2.045	0.58432	D	0.999998	D;P	0.89917	1.0;0.591	D;B	0.66497	0.944;0.049	T	0.82841	-0.0258	10	0.72032	D	0.01	-5.4211	13.2263	0.59916	0.1593:0.8406:0.0:0.0	.	303;468	G5E9V4;Q969F9	.;HPS3_HUMAN	L	468;303	ENSP00000296051:S468L;ENSP00000418230:S303L	ENSP00000296051:S468L	S	+	2	0	HPS3	150355586	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.057000	0.57455	1.388000	0.46506	0.655000	0.94253	TCG		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
CP	1356	broad.mit.edu	37	3	148896220	148896220	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148896220C>T	ENST00000264613.6	-	16	3122	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	954	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E954K(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTATTGCTTTCTATGAATTCC	0.289																																					p.E954K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2860A	3						.						117.0	108.0	111.0					3																	148896220		2201	4300	6501	150378910	SO:0001583	missense	1356	exon16			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2860G>A	3.37:g.148896220C>T	ENSP00000264613:p.Glu954Lys		150378910	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	33	5.276407	0.95459	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.98701	-5.08;-5.08;-5.08	5.68	5.68	0.88126	Cupredoxin (2);	0.098183	0.64402	D	0.000001	D	0.98673	0.9555	L	0.55834	1.745	0.80722	D	1	D;D;P;P	0.57899	0.981;0.981;0.868;0.908	P;P;P;P	0.61533	0.852;0.89;0.494;0.783	D	0.99320	1.0906	10	0.48119	T	0.1	-27.1399	19.7948	0.96474	0.0:1.0:0.0:0.0	.	954;954;954;667	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	K	89;954;737	ENSP00000420367:E89K;ENSP00000264613:E954K;ENSP00000420545:E737K	ENSP00000264613:E954K	E	-	1	0	CP	150378910	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.757000	0.68766	2.687000	0.91594	0.650000	0.86243	GAA		0.289	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
ZFYVE20	64145	broad.mit.edu	37	3	15116043	15116043	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15116043C>A	ENST00000253699.3	-	14	2214	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R534M	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	534	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R534M(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AAACTGCTCCCTTTCTCGTTC	0.612																																					p.R534M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1601T	3						.						104.0	97.0	99.0					3																	15116043		2203	4300	6503	15091047	SO:0001583	missense	64145	exon14			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1601G>T	3.37:g.15116043C>A	ENSP00000253699:p.Arg534Met		15091047	NM_022340	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968924	0.18659	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.54279	0.58;0.58	5.73	-2.47	0.06442	.	1.097460	0.06776	N	0.784423	T	0.39886	0.1095	L	0.40543	1.245	0.09310	N	0.999994	B	0.29805	0.257	B	0.27380	0.079	T	0.32241	-0.9914	10	0.66056	D	0.02	-2.574	5.8873	0.18888	0.1219:0.4234:0.0:0.4547	.	534	Q9H1K0	RBNS5_HUMAN	M	534	ENSP00000253699:R534M;ENSP00000422551:R534M	ENSP00000253699:R534M	R	-	2	0	ZFYVE20	15091047	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-0.581000	0.05820	-0.936000	0.03723	0.491000	0.48974	AGG		0.612	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
ZFYVE20	64145	broad.mit.edu	37	3	15118603	15118603	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15118603C>A	ENST00000253699.3	-	12	1680	c.1067G>T	c.(1066-1068)aGa>aTa	p.R356I	ZFYVE20_ENST00000449964.2_5'Flank|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R356I	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	356	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R356I(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TCTGATCATTCTCTGCAGCCG	0.458																																					p.R356I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067T	3						.						189.0	177.0	181.0					3																	15118603		2203	4300	6503	15093607	SO:0001583	missense	64145	exon12			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1067G>T	3.37:g.15118603C>A	ENSP00000253699:p.Arg356Ile		15093607	NM_022340	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163507	0.78226	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000418832	T;T	0.55760	0.5;0.5	5.9	3.17	0.36434	.	0.181080	0.64402	D	0.000016	T	0.54743	0.1877	M	0.63843	1.955	0.80722	D	1	P	0.35383	0.498	B	0.43623	0.425	T	0.54463	-0.8290	10	0.72032	D	0.01	-19.3043	9.3162	0.37934	0.0:0.7286:0.0:0.2714	.	356	Q9H1K0	RBNS5_HUMAN	I	356;356;58	ENSP00000253699:R356I;ENSP00000422551:R356I	ENSP00000253699:R356I	R	-	2	0	ZFYVE20	15093607	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	1.533000	0.36040	0.407000	0.25591	0.591000	0.81541	AGA		0.458	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
CP	1356	broad.mit.edu	37	3	148904388	148904388	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:148904388G>T	ENST00000264613.6	-	11	2258	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	666	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.L666M(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCTCTCCACAGATATGTGTTT	0.468																																					p.L666M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1996A	3						.						180.0	160.0	167.0					3																	148904388		2203	4300	6503	150387078	SO:0001583	missense	1356	exon11			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1996C>A	3.37:g.148904388G>T	ENSP00000264613:p.Leu666Met		150387078	NM_000096	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021586	0.08006	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99764	-6.68;-6.68	5.91	4.1	0.47936	Cupredoxin (2);	0.291161	0.34291	N	0.004083	D	0.98921	0.9634	L	0.52823	1.66	0.09310	N	1	B;B;B;B	0.23591	0.088;0.088;0.088;0.088	B;B;B;B	0.21546	0.035;0.035;0.035;0.035	D	0.98216	1.0475	10	0.37606	T	0.19	-1.1167	11.2353	0.48936	0.068:0.3555:0.5766:0.0	.	666;666;666;666	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	M	666;449	ENSP00000264613:L666M;ENSP00000420545:L449M	ENSP00000264613:L666M	L	-	1	2	CP	150387078	0.751000	0.28327	0.246000	0.24233	0.257000	0.26127	1.233000	0.32648	0.816000	0.34421	-0.126000	0.14955	CTG		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
TSC22D2	9819	broad.mit.edu	37	3	150176245	150176245	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150176245G>T	ENST00000361875.3	+	4	3181	c.2165G>T	c.(2164-2166)aGa>aTa	p.R722I	TSC22D2_ENST00000361136.2_Missense_Mutation_p.R698I	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	722					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R722I(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTAGTTGAAAGAAACTCTTTA	0.353																																					p.R722I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2165T	3						.						81.0	84.0	83.0					3																	150176245		2203	4300	6503	151658935	SO:0001583	missense	9819	exon4			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2165G>T	3.37:g.150176245G>T	ENSP00000354543:p.Arg722Ile		151658935	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.608|9.608	1.130531|1.130531	0.21041|0.21041	.|.	.|.	ENSG00000196428|ENSG00000196428	ENST00000466814|ENST00000543241;ENST00000361875;ENST00000361136	.|T;T	.|0.38887	.|1.11;1.27	5.38|5.38	3.6|3.6	0.41247|0.41247	.|.	.|0.205916	.|0.32624	.|N	.|0.005860	T|T	0.61337|0.61337	0.2339|0.2339	M|M	0.78801|0.78801	2.425|2.425	0.49213|0.49213	D|D	0.999762|0.999762	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.73708	.|0.933;0.981	T|T	0.63107|0.63107	-0.6711|-0.6711	5|10	.|0.87932	.|D	.|0	.|.	9.4194|9.4194	0.38541|0.38541	0.2172:0.0:0.7828:0.0|0.2172:0.0:0.7828:0.0	.|.	.|698;722	.|O75157-2;O75157	.|.;T22D2_HUMAN	N|I	145|171;722;698	.|ENSP00000354543:R722I;ENSP00000354893:R698I	.|ENSP00000354893:R698I	K|R	+|+	3|2	2|0	TSC22D2|TSC22D2	151658935|151658935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.111000|0.111000	0.19643|0.19643	7.637000|7.637000	0.83313|0.83313	0.774000|0.774000	0.33427|0.33427	-0.150000|-0.150000	0.13652|0.13652	AAG|AGA		0.353	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
EIF2A	83939	broad.mit.edu	37	3	150285701	150285701	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150285701G>T	ENST00000460851.1	+	8	671	c.562G>T	c.(562-564)Gtt>Ttt	p.V188F	EIF2A_ENST00000383043.3_Start_Codon_SNP_p.M1I|EIF2A_ENST00000487799.1_Missense_Mutation_p.V163F|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.V183F|EIF2A_ENST00000406576.3_Missense_Mutation_p.V127F|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	188					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)	p.V163F(1)		cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGCTGTCTATGTTCCAGGAAG	0.338																																					p.V188F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562T	3						.						104.0	96.0	98.0					3																	150285701		1840	4078	5918	151768391	SO:0001583	missense	83939	exon8			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.562G>T	3.37:g.150285701G>T	ENSP00000417229:p.Val188Phe		151768391	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	CCDS46935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.699358|4.699358	0.88830|0.88830	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000383043|ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435	T|T;T;T;T;T	0.39787|0.37915	1.06|1.19;1.18;1.18;1.17;3.25	6.03|6.03	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65238|0.65238	0.2672|0.2672	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.999;0.992;0.945	.|D;D;P	.|0.73708	.|0.981;0.923;0.714	T|T	0.73062|0.73062	-0.4101|-0.4101	7|10	0.87932|0.87932	D|D	0|0	-22.7717|-22.7717	15.4819|15.4819	0.75534|0.75534	0.0662:0.0:0.9338:0.0|0.0662:0.0:0.9338:0.0	.|.	.|127;163;188	.|B4DF96;B4DQ14;Q9BY44	.|.;.;EIF2A_HUMAN	I|F	1|163;188;127;200;183	ENSP00000372513:M1I|ENSP00000420537:V163F;ENSP00000417229:V188F;ENSP00000385292:V127F;ENSP00000418698:V200F;ENSP00000273435:V183F	ENSP00000372513:M1I|ENSP00000273435:V183F	M|V	+|+	3|1	0|0	EIF2A|EIF2A	151768391|151768391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.375000|9.375000	0.97178|0.97178	1.551000|1.551000	0.49450|0.49450	0.655000|0.655000	0.94253|0.94253	ATG|GTT		0.338	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
CAPN7	23473	broad.mit.edu	37	3	15253696	15253696	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15253696G>T	ENST00000253693.2	+	2	441	c.188G>T	c.(187-189)aGa>aTa	p.R63I		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	63					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.R63I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TATCTGGAAAGAGTTCAAGCT	0.363																																					p.R63I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188T	3						.						76.0	77.0	77.0					3																	15253696		2203	4300	6503	15228700	SO:0001583	missense	23473	exon2			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.188G>T	3.37:g.15253696G>T	ENSP00000253693:p.Arg63Ile		15228700	NM_014296		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055981	0.93793	.	.	ENSG00000131375	ENST00000253693	T	0.57752	0.38	5.49	5.49	0.81192	MIT (2);	0.122489	0.53938	D	0.000056	T	0.77039	0.4072	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80609	-0.1306	10	0.87932	D	0	-18.5295	18.9685	0.92706	0.0:0.0:1.0:0.0	.	63	Q9Y6W3	CAN7_HUMAN	I	63	ENSP00000253693:R63I	ENSP00000253693:R63I	R	+	2	0	CAPN7	15228700	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.902000	0.92568	2.591000	0.87537	0.555000	0.69702	AGA		0.363	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	
ERICH6	131831	broad.mit.edu	37	3	150384786	150384786	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150384786A>C	ENST00000295910.6	-	13	1568	c.1516T>G	c.(1516-1518)Ttg>Gtg	p.L506V	FAM194A_ENST00000491361.1_Missense_Mutation_p.L360V	NM_152394.3	NP_689607.2												p.L506V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGACCTCCCAAGATATTGATG	0.383																																					p.L506V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1516G	3						.						115.0	115.0	115.0					3																	150384786		2203	4300	6503	151867476	SO:0001583	missense	131831	exon13																														ENST00000295910.6:c.1516T>G	3.37:g.150384786A>C	ENSP00000295910:p.Leu506Val		151867476	NM_152394		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076138	0.36662	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.11385	2.78;2.78	5.41	-0.154	0.13399	.	0.985177	0.08279	N	0.970221	T	0.08758	0.0217	M	0.61703	1.905	0.22552	N	0.99899	P	0.35793	0.521	B	0.28916	0.096	T	0.33007	-0.9885	10	0.28530	T	0.3	-2.315	1.1778	0.01839	0.3916:0.2617:0.22:0.1267	.	506	Q7L0X2	F194A_HUMAN	V	506;360;464	ENSP00000295910:L506V;ENSP00000419366:L360V	ENSP00000295910:L506V	L	-	1	2	FAM194A	151867476	0.006000	0.16342	0.983000	0.44433	0.891000	0.51852	0.003000	0.13083	-0.247000	0.09597	-0.316000	0.08728	TTG		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
MED12L	116931	broad.mit.edu	37	3	150873963	150873963	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150873963C>A	ENST00000474524.1	+	5	610	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	MED12L_ENST00000422248.2_Missense_Mutation_p.S191Y|MED12L_ENST00000309237.4_Missense_Mutation_p.S191Y|MED12L_ENST00000273432.4_Missense_Mutation_p.S191Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	191						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S191Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACAGATATCTACCAGATAT	0.443																																					p.S191Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	3						.						77.0	76.0	76.0					3																	150873963		2203	4300	6503	152356653	SO:0001583	missense	116931	exon5			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.572C>A	3.37:g.150873963C>A	ENSP00000417235:p.Ser191Tyr		152356653	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743516	0.49151	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.60171	0.53;0.53;0.44;0.21	4.78	4.78	0.61160	.	0.230975	0.34338	N	0.004041	T	0.55257	0.1909	L	0.36672	1.1	0.22127	N	0.999341	P;P;P;P	0.49559	0.545;0.61;0.681;0.925	B;B;B;P	0.51355	0.206;0.282;0.281;0.667	T	0.52917	-0.8511	10	0.87932	D	0	-11.5497	9.2238	0.37393	0.0:0.8335:0.0:0.1665	.	191;191;191;191	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Y	191	ENSP00000403308:S191Y;ENSP00000310760:S191Y;ENSP00000417235:S191Y;ENSP00000273432:S191Y	ENSP00000273432:S191Y	S	+	2	0	MED12L	152356653	0.889000	0.30405	0.716000	0.30569	0.984000	0.73092	3.226000	0.51254	2.350000	0.79820	0.557000	0.71058	TCT		0.443	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	broad.mit.edu	37	3	150911392	150911392	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150911392T>G	ENST00000474524.1	+	14	2122	c.2084T>G	c.(2083-2085)tTt>tGt	p.F695C	MED12L_ENST00000422248.2_Missense_Mutation_p.F695C|MED12L_ENST00000309237.4_Missense_Mutation_p.F730C|MED12L_ENST00000273432.4_Missense_Mutation_p.F555C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	695						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.F695C(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATTAATTTTTCCATCTAAT	0.398																																					p.F695C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2084G	3						.						131.0	130.0	130.0					3																	150911392		2203	4300	6503	152394082	SO:0001583	missense	116931	exon14			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2084T>G	3.37:g.150911392T>G	ENSP00000417235:p.Phe695Cys		152394082	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.80|17.80	3.479014|3.479014	0.63849|0.63849	.|.	.|.	ENSG00000144893|ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432|ENST00000480026	T;T;T;T|.	0.31510|.	1.49;1.49;1.49;1.49|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Mediator complex, subunit Med12, LCEWAV-domain (1);|.	0.052405|0.052405	0.85682|0.85682	D|N	0.000000|0.000000	T|T	0.69842|0.69842	0.3156|0.3156	L|L	0.56769|0.56769	1.78|1.78	0.42635|0.42635	D|D	0.993398|0.993398	D;D;D;D|.	0.69078|.	0.967;0.997;0.997;0.973|.	P;D;P;P|.	0.65684|.	0.77;0.937;0.875;0.614|.	T|T	0.69228|0.69228	-0.5200|-0.5200	10|6	0.87932|.	D|.	0|.	-16.1304|-16.1304	15.2029|15.2029	0.73153|0.73153	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	555;695;695;730|.	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3|.	.;MD12L_HUMAN;.;.|.	C|L	695;730;695;555|44	ENSP00000403308:F695C;ENSP00000310760:F730C;ENSP00000417235:F695C;ENSP00000273432:F555C|.	ENSP00000273432:F555C|.	F|F	+|+	2|3	0|2	MED12L|MED12L	152394082|152394082	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	4.515000|4.515000	0.60489|0.60489	2.113000|2.113000	0.64589|0.64589	0.496000|0.496000	0.49642|0.49642	TTT|TTT		0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
GPR171	29909	broad.mit.edu	37	3	150916664	150916664	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150916664C>A	ENST00000309180.5	-	3	740	c.510G>T	c.(508-510)aaG>aaT	p.K170N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	170					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K170N(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCCAAATTCCTTTTTAAACT	0.328																																					p.K170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	3						.						51.0	57.0	55.0					3																	150916664		2203	4300	6503	152399354	SO:0001583	missense	29909	exon3			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.510G>T	3.37:g.150916664C>A	ENSP00000308479:p.Lys170Asn		152399354	NM_013308	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.691985	0.00731	.	.	ENSG00000174946	ENST00000309180	T	0.39592	1.07	5.55	-4.01	0.04045	GPCR, rhodopsin-like superfamily (1);	0.809644	0.11310	N	0.577248	T	0.10680	0.0261	N	0.01576	-0.805	0.21386	N	0.999703	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	10	0.16420	T	0.52	0.2538	0.8851	0.01243	0.1811:0.2044:0.2682:0.3463	.	170	O14626	GP171_HUMAN	N	170	ENSP00000308479:K170N	ENSP00000308479:K170N	K	-	3	2	GPR171	152399354	0.000000	0.05858	0.002000	0.10522	0.607000	0.37147	-1.055000	0.03493	-0.989000	0.03485	-0.150000	0.13652	AAG		0.328	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308	
P2RY14	9934	broad.mit.edu	37	3	150931158	150931158	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:150931158G>A	ENST00000309170.3	-	3	1259	c.947C>T	c.(946-948)gCt>gTt	p.A316V	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.A316V|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	316					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.A316V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATTCTGAGCTTTTAATGG	0.378																																					p.A316V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	3						.						153.0	152.0	152.0					3																	150931158		2203	4300	6503	152413848	SO:0001583	missense	9934	exon3			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.947C>T	3.37:g.150931158G>A	ENSP00000308361:p.Ala316Val		152413848	NM_014879	Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	G	7.870	0.727931	0.15507	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.68765	-0.35;-0.35	5.36	-1.19	0.09585	.	0.892392	0.09465	N	0.798413	T	0.35451	0.0932	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	10	0.12766	T	0.61	-2.1311	1.4386	0.02349	0.3461:0.2298:0.3063:0.1178	.	316	Q15391	P2Y14_HUMAN	V	316	ENSP00000308361:A316V;ENSP00000408733:A316V	ENSP00000308361:A316V	A	-	2	0	P2RY14	152413848	0.000000	0.05858	0.000000	0.03702	0.505000	0.33919	-0.169000	0.09911	-0.237000	0.09739	0.650000	0.86243	GCT		0.378	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879	
MED12L	116931	broad.mit.edu	37	3	151094873	151094873	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151094873C>A	ENST00000474524.1	+	28	4156	c.4118C>A	c.(4117-4119)tCt>tAt	p.S1373Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.S1233Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1373						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S1373Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTAAATAATTCTTCTAATTCT	0.413																																					p.S1373Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4118A	3						.						89.0	90.0	90.0					3																	151094873		2203	4300	6503	152577563	SO:0001583	missense	116931	exon28			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4118C>A	3.37:g.151094873C>A	ENSP00000417235:p.Ser1373Tyr		152577563	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373130	0.82573	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.55588	0.51;0.51	5.93	5.93	0.95920	.	0.257927	0.32041	N	0.006664	T	0.60143	0.2246	L	0.36672	1.1	0.80722	D	1	D;P;P	0.57257	0.979;0.936;0.894	P;P;B	0.54312	0.748;0.466;0.365	T	0.61456	-0.7059	10	0.87932	D	0	-7.7695	19.9416	0.97165	0.0:1.0:0.0:0.0	.	1233;1372;1373	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Y	1373;1233	ENSP00000417235:S1373Y;ENSP00000273432:S1233Y	ENSP00000273432:S1233Y	S	+	2	0	MED12L	152577563	1.000000	0.71417	0.052000	0.19188	0.915000	0.54546	5.091000	0.64505	2.798000	0.96311	0.655000	0.94253	TCT		0.413	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	broad.mit.edu	37	3	151105609	151105609	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151105609C>A	ENST00000474524.1	+	35	5033	c.4995C>A	c.(4993-4995)gtC>gtA	p.V1665V	MED12L_ENST00000273432.4_Silent_p.V1525V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1665						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V1665V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCTCCAGGTCTCTACGAAGC	0.522																																					p.V1665V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4995A	3						.						86.0	91.0	89.0					3																	151105609		2203	4300	6503	152588299	SO:0001819	synonymous_variant	116931	exon35			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4995C>A	3.37:g.151105609C>A			152588299	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1																																																																																				0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
MED12L	116931	broad.mit.edu	37	3	151131061	151131061	+	Missense_Mutation	SNP	G	G	A	rs139235145	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151131061G>A	ENST00000474524.1	+	40	6208	c.6170G>A	c.(6169-6171)cGa>cAa	p.R2057Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2057	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R2057Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGCAAGTTCGACAGCAGCAG	0.542													G|||	6	0.00119808	0.0	0.0	5008	,	,		19134	0.0		0.0	False		,,,				2504	0.0061				p.R2057Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6170A	3						.	G	GLN/ARG	0,4406		0,0,2203	68.0	65.0	66.0		6170	5.3	1.0	3	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED12L	NM_053002.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2057/2146	151131061	1,13005	2203	4300	6503	152613751	SO:0001583	missense	116931	exon40			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6170G>A	3.37:g.151131061G>A	ENSP00000417235:p.Arg2057Gln		152613751	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833446	0.71258	0.0	1.16E-4	ENSG00000144893	ENST00000474524	T	0.55413	0.52	5.33	5.33	0.75918	.	0.420137	0.23510	N	0.047404	T	0.28300	0.0699	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.04013	0.001	T	0.15694	-1.0428	10	0.07644	T	0.81	-10.9158	11.3155	0.49390	0.0843:0.0:0.9157:0.0	.	2057	Q86YW9	MD12L_HUMAN	Q	2057	ENSP00000417235:R2057Q	ENSP00000417235:R2057Q	R	+	2	0	MED12L	152613751	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.948000	0.56660	2.495000	0.84180	0.655000	0.94253	CGA		0.542	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
IGSF10	285313	broad.mit.edu	37	3	151155606	151155606	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151155606T>G	ENST00000282466.3	-	6	6742	c.6743A>C	c.(6742-6744)aAa>aCa	p.K2248T	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2248	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.K2248T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCTGTGGCTTTAATAACAGT	0.433																																					p.K275T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824C	3						.						111.0	99.0	103.0					3																	151155606		2203	4300	6503	152638296	SO:0001583	missense	285313	exon2			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6743A>C	3.37:g.151155606T>G	ENSP00000282466:p.Lys2248Thr		152638296	NM_001178145	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455411	0.43634	.	.	ENSG00000152580	ENST00000282466	T	0.70282	-0.47	5.22	0.97	0.19692	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.266780	0.26435	N	0.024382	T	0.76097	0.3940	L	0.53780	1.695	0.48341	D	0.999635	D;D	0.71674	0.998;0.974	D;P	0.68353	0.957;0.877	T	0.73036	-0.4109	10	0.49607	T	0.09	.	9.495	0.38982	0.0:0.2261:0.0:0.7739	.	2248;275	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	T	2248	ENSP00000282466:K2248T	ENSP00000282466:K2248T	K	-	2	0	IGSF10	152638296	1.000000	0.71417	0.385000	0.26158	0.548000	0.35241	1.664000	0.37439	0.211000	0.20683	0.482000	0.46254	AAA		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151161328	151161328	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151161328C>T	ENST00000282466.3	-	5	5406	c.5407G>A	c.(5407-5409)Gga>Aga	p.G1803R	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1803	Ig-like C2-type 4.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.G1803R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCAATGTTCCGTCAACCGTC	0.488																																					p.G1803R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5407A	3						.						91.0	82.0	85.0					3																	151161328		2203	4300	6503	152644018	SO:0001583	missense	285313	exon5			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5407G>A	3.37:g.151161328C>T	ENSP00000282466:p.Gly1803Arg		152644018	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970528	0.34754	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68331	-0.32	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000243	T	0.80014	0.4546	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79652	-0.1714	9	.	.	.	.	15.9174	0.79531	0.0:0.8649:0.1351:0.0	.	1803	Q6WRI0	IGS10_HUMAN	R	1803;430	ENSP00000282466:G1803R	.	G	-	1	0	IGSF10	152644018	1.000000	0.71417	0.769000	0.31535	0.053000	0.15095	7.682000	0.84083	2.463000	0.83235	0.591000	0.81541	GGA		0.488	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151165153	151165153	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151165153C>A	ENST00000282466.3	-	4	2615	c.2616G>T	c.(2614-2616)aaG>aaT	p.K872N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	872					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.K872N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTTATATTCTTTGACATGG	0.403																																					p.K872N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2616T	3						.						296.0	301.0	299.0					3																	151165153		2203	4300	6503	152647843	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2616G>T	3.37:g.151165153C>A	ENSP00000282466:p.Lys872Asn		152647843	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782778	0.16189	.	.	ENSG00000152580	ENST00000282466	T	0.69435	-0.4	5.31	1.83	0.25207	.	0.802103	0.10579	N	0.658169	T	0.40322	0.1112	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19451	-1.0305	10	0.34782	T	0.22	.	3.1817	0.06587	0.1494:0.5388:0.1462:0.1656	.	872	Q6WRI0	IGS10_HUMAN	N	872	ENSP00000282466:K872N	ENSP00000282466:K872N	K	-	3	2	IGSF10	152647843	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.239000	0.08965	1.218000	0.43458	0.591000	0.81541	AAG		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
AADACL2	344752	broad.mit.edu	37	3	151461900	151461900	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151461900C>A	ENST00000356517.3	+	3	490	c.381C>A	c.(379-381)ttC>ttA	p.F127L		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	127						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.F105L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTTTGACTTCCTGAATAGAT	0.353																																					p.F127L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C381A	3						.						163.0	153.0	156.0					3																	151461900		2203	4300	6503	152944590	SO:0001583	missense	344752	exon3			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.381C>A	3.37:g.151461900C>A	ENSP00000348911:p.Phe127Leu		152944590	NM_207365	Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	7.494	0.651240	0.14516	.	.	ENSG00000197953	ENST00000356517	T	0.58506	0.33	5.04	4.17	0.49024	Alpha/beta hydrolase fold-3 (1);	0.303220	0.33591	N	0.004744	T	0.31295	0.0792	N	0.05554	-0.025	0.25737	N	0.985206	B	0.02656	0.0	B	0.06405	0.002	T	0.14755	-1.0461	10	0.10636	T	0.68	-28.3554	9.0622	0.36442	0.0:0.8298:0.0:0.1702	.	127	Q6P093	ADCL2_HUMAN	L	127	ENSP00000348911:F127L	ENSP00000348911:F127L	F	+	3	2	AADACL2	152944590	0.152000	0.22762	0.002000	0.10522	0.046000	0.14306	0.001000	0.13038	1.491000	0.48482	0.655000	0.94253	TTC		0.353	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	
AADAC	13	broad.mit.edu	37	3	151545584	151545584	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:151545584G>T	ENST00000232892.7	+	5	950	c.824G>T	c.(823-825)aGt>aTt	p.S275I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	275					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S275I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGGAATCAAGTCATCTCTTC	0.388																																					p.S275I	Ovarian(30;839 841 2699 32801 46334)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824T	3						.						62.0	65.0	64.0					3																	151545584		2203	4299	6502	153028274	SO:0001583	missense	13	exon5			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.824G>T	3.37:g.151545584G>T	ENSP00000232892:p.Ser275Ile		153028274	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400216	0.42613	.	.	ENSG00000114771	ENST00000232892	T	0.58940	0.3	4.81	3.92	0.45320	.	0.342235	0.35151	N	0.003401	T	0.53433	0.1796	L	0.34521	1.04	0.09310	N	0.999999	P	0.42871	0.792	P	0.50537	0.643	T	0.42344	-0.9457	10	0.39692	T	0.17	-43.0589	8.6988	0.34312	0.0783:0.2897:0.632:0.0	.	275	P22760	AAAD_HUMAN	I	275	ENSP00000232892:S275I	ENSP00000232892:S275I	S	+	2	0	AADAC	153028274	0.027000	0.19231	0.013000	0.15412	0.981000	0.71138	2.319000	0.43788	0.977000	0.38444	0.591000	0.81541	AGT		0.388	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086	
P2RY1	5028	broad.mit.edu	37	3	152554408	152554408	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:152554408G>T	ENST00000305097.3	+	1	1673	c.837G>T	c.(835-837)atG>atT	p.M279I	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	279					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.M279I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCATGTGATGAAAACGATGA	0.443																																					p.M279I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G837T	3						.						114.0	115.0	115.0					3																	152554408		2203	4300	6503	154037098	SO:0001583	missense	5028	exon1			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.837G>T	3.37:g.152554408G>T	ENSP00000304767:p.Met279Ile		154037098	NM_002563		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535538	0.85812	.	.	ENSG00000169860	ENST00000305097	T	0.71222	-0.55	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	L	0.31294	0.92	0.80722	D	1	B	0.34349	0.45	B	0.40228	0.323	T	0.59172	-0.7504	10	0.16420	T	0.52	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	279	P47900	P2RY1_HUMAN	I	279	ENSP00000304767:M279I	ENSP00000304767:M279I	M	+	3	0	P2RY1	154037098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.731000	0.98807	2.618000	0.88619	0.563000	0.77884	ATG		0.443	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563	
METTL6	131965	broad.mit.edu	37	3	15452882	15452882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15452882G>A	ENST00000443029.1	-	6	976	c.736C>T	c.(736-738)Cga>Tga	p.R246*	METTL6_ENST00000450816.2_Nonsense_Mutation_p.R201*|METTL6_ENST00000383790.3_Nonsense_Mutation_p.R246*			Q8TCB7	METL6_HUMAN	methyltransferase like 6	246							methyltransferase activity (GO:0008168)	p.R246*(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ACCGTCTCTCGAAACACATAC	0.443																																					p.R246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C736T	3						.						145.0	133.0	137.0					3																	15452882		1885	4110	5995	15427886	SO:0001587	stop_gained	131965	exon6			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.736C>T	3.37:g.15452882G>A	ENSP00000407613:p.Arg246*		15427886	NM_152396	Q96LU4	Nonsense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	37	6.146775	0.97324	.	.	ENSG00000206562	ENST00000383790;ENST00000450816	.	.	.	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9032	13.7009	0.62608	0.0749:0.0:0.9251:0.0	.	.	.	.	X	246;201	.	ENSP00000373300:R246X	R	-	1	2	METTL6	15427886	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.041000	0.76558	1.312000	0.45043	0.555000	0.69702	CGA		0.443	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
P2RY1	5028	broad.mit.edu	37	3	152554595	152554595	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:152554595G>T	ENST00000305097.3	+	1	1860	c.1024G>T	c.(1024-1026)Gct>Tct	p.A342S	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A342S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CACAAGGAAAGCTTCTAGAAG	0.453																																					p.A342S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024T	3						.						44.0	48.0	47.0					3																	152554595		2202	4299	6501	154037285	SO:0001583	missense	5028	exon1			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.1024G>T	3.37:g.152554595G>T	ENSP00000304767:p.Ala342Ser		154037285	NM_002563		Missense_Mutation	SNP	ENST00000305097.3	37	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	7.809	0.715230	0.15306	.	.	ENSG00000169860	ENST00000305097	T	0.25749	1.78	5.2	5.2	0.72013	.	0.320424	0.28448	N	0.015309	T	0.12220	0.0297	N	0.08118	0	0.38253	D	0.941654	B	0.06786	0.001	B	0.04013	0.001	T	0.10776	-1.0615	10	0.07030	T	0.85	.	13.3738	0.60726	0.0:0.0:0.8322:0.1678	.	342	P47900	P2RY1_HUMAN	S	342	ENSP00000304767:A342S	ENSP00000304767:A342S	A	+	1	0	P2RY1	154037285	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.072000	0.41510	2.419000	0.82065	0.563000	0.77884	GCT		0.453	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563	
METTL6	131965	broad.mit.edu	37	3	15467851	15467851	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15467851G>T	ENST00000443029.1	-	2	408	c.168C>A	c.(166-168)ttC>ttA	p.F56L	METTL6_ENST00000450816.2_Missense_Mutation_p.F56L|METTL6_ENST00000383790.3_Missense_Mutation_p.F56L|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank|METTL6_ENST00000383789.5_Missense_Mutation_p.F56L			Q8TCB7	METL6_HUMAN	methyltransferase like 6	56							methyltransferase activity (GO:0008168)	p.F56L(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TGTCTTTGAAGAAATTAGTGC	0.363																																					p.F56L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C168A	3						.						157.0	143.0	147.0					3																	15467851		1845	4092	5937	15442855	SO:0001583	missense	131965	exon2			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.168C>A	3.37:g.15467851G>T	ENSP00000407613:p.Phe56Leu		15442855	NM_152396	Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328892	0.81690	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.66280	-0.2;-0.2;-0.2	5.54	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.82226	0.4991	H	0.95328	3.655	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.81364	-0.0966	10	0.87932	D	0	-13.8253	7.2447	0.26115	0.3772:0.0:0.6228:0.0	.	56;56;56	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	L	56	ENSP00000373300:F56L;ENSP00000410726:F56L;ENSP00000373299:F56L	ENSP00000373299:F56L	F	-	3	2	METTL6	15442855	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.384000	0.52478	0.404000	0.25506	0.650000	0.86243	TTC		0.363	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
RAP2B	5912	broad.mit.edu	37	3	152880572	152880572	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:152880572G>T	ENST00000323534.2	+	1	544	c.90G>T	c.(88-90)gaG>gaT	p.E30D	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	30					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.E30D(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CCTTCATCGAGAAGTACGACC	0.617																																					p.E30D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G90T	3						.						79.0	77.0	78.0					3																	152880572		2203	4300	6503	154363262	SO:0001583	missense	5912	exon1				CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.90G>T	3.37:g.152880572G>T	ENSP00000319096:p.Glu30Asp		154363262	NM_002886	P17964|Q96EG5|Q9CXG0	Missense_Mutation	SNP	ENST00000323534.2	37	CCDS3170.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246687	0.80024	.	.	ENSG00000181467	ENST00000323534	T	0.78364	-1.17	4.61	4.61	0.57282	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	T	0.79718	0.4494	L	0.33668	1.02	0.80722	D	1	P	0.50066	0.931	D	0.72982	0.979	T	0.72994	-0.4122	10	0.07813	T	0.8	.	14.9788	0.71296	0.0:0.0:1.0:0.0	.	30	P61225	RAP2B_HUMAN	D	30	ENSP00000319096:E30D	ENSP00000319096:E30D	E	+	3	2	RAP2B	154363262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.784000	0.55416	2.367000	0.80283	0.563000	0.77884	GAG		0.617	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1	NM_002886	
ARHGEF26	26084	broad.mit.edu	37	3	153958194	153958194	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:153958194G>T	ENST00000356448.4	+	12	2410	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R709I|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	709	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R709I(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TATTCCTTAAGAGATCAGCTA	0.393																																					p.R709I	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2126T	3						.						84.0	80.0	81.0					3																	153958194		1876	4117	5993	155440884	SO:0001583	missense	26084	exon12			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2126G>T	3.37:g.153958194G>T	ENSP00000348828:p.Arg709Ile		155440884	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202282	0.79127	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.75050	-0.9;-0.9	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81803	-0.0765	10	0.25106	T	0.35	-19.974	19.3865	0.94557	0.0:0.0:1.0:0.0	.	709;709	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	I	709	ENSP00000348828:R709I;ENSP00000423418:R709I	ENSP00000348828:R709I	R	+	2	0	ARHGEF26	155440884	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	8.181000	0.89696	2.671000	0.90904	0.655000	0.94253	AGA		0.393	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
ARHGEF26	26084	broad.mit.edu	37	3	153973152	153973152	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:153973152G>T	ENST00000356448.4	+	15	2790	c.2506G>T	c.(2506-2508)Gaa>Taa	p.E836*	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.E836*|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	836	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E836*(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ACGAGATGGAGAAAGAGGCTG	0.468																																					p.R837I	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2510T	3						.						148.0	145.0	146.0					3																	153973152		1960	4155	6115	155455846	SO:0001587	stop_gained	26084	exon15			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2506G>T	3.37:g.153973152G>T	ENSP00000348828:p.Glu836*		155455846	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Nonsense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	42	9.299682	0.99130	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.8888	19.8936	0.96942	0.0:0.0:1.0:0.0	.	.	.	.	X	836	.	ENSP00000348828:E836X	E	+	1	0	ARHGEF26	155455846	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	6.109000	0.71528	2.793000	0.96121	0.655000	0.94253	GAA		0.468	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
DHX36	170506	broad.mit.edu	37	3	154002755	154002755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154002755C>A	ENST00000496811.1	-	18	2133	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	DHX36_ENST00000308361.6_Nonsense_Mutation_p.E685*|DHX36_ENST00000544526.1_Nonsense_Mutation_p.E671*|DHX36_ENST00000329463.5_Nonsense_Mutation_p.E671*	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	685					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.E685*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGTGTCAATTCTTCTTGTTTA	0.378																																					p.E671X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2011T	3						.						113.0	111.0	111.0					3																	154002755		2203	4300	6503	155485449	SO:0001587	stop_gained	170506	exon18			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2053G>T	3.37:g.154002755C>A	ENSP00000417078:p.Glu685*		155485449	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Nonsense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.989230|8.989230	0.99027|0.99027	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941|ENST00000469977	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.089581|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79569	.|0.4468	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77807	.|-0.2450	.|3	0.21540|.	T|.	0.41|.	.|.	19.6173|19.6173	0.95639|0.95639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	685;685;671;671;599|131	.|.	ENSP00000309296:E685X|.	E|K	-|-	1|3	0|2	DHX36|DHX36	155485449|155485449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.701000|4.701000	0.61810|0.61810	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.378	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
DHX36	170506	broad.mit.edu	37	3	154011591	154011591	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154011591C>A	ENST00000496811.1	-	14	1696	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	DHX36_ENST00000308361.6_Missense_Mutation_p.R539I|DHX36_ENST00000544526.1_Missense_Mutation_p.R525I|DHX36_ENST00000329463.5_Missense_Mutation_p.R525I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	539	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.R539I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGAGGGGTTCTTTTAAACAC	0.299																																					p.R525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1574T	3						.						66.0	70.0	68.0					3																	154011591		2203	4295	6498	155494285	SO:0001583	missense	170506	exon14			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1616G>T	3.37:g.154011591C>A	ENSP00000417078:p.Arg539Ile		155494285	NM_001114397	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.27|19.27	3.794661|3.794661	0.70452|0.70452	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.77098	.|-1.07;-1.07;-1.07;-1.07;-1.07	5.92|5.92	-2.02|-2.02	0.07388|0.07388	.|Helicase, C-terminal (3);	.|0.392877	.|0.35615	.|N	.|0.003099	.|T	.|0.76786	.|0.4036	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999992|0.999992	.|P;P;P	.|0.38767	.|0.594;0.594;0.646	.|P;P;P	.|0.48921	.|0.459;0.459;0.595	.|T	.|0.74393	.|-0.3680	.|10	.|0.56958	.|D	.|0.05	.|.	12.8673|12.8673	0.57946|0.57946	0.0:0.4017:0.0:0.5983|0.0:0.4017:0.0:0.5983	.|.	.|525;539;539	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	X|I	19|539;539;525;525;453	.|ENSP00000417078:R539I;ENSP00000309296:R539I;ENSP00000444247:R525I;ENSP00000330113:R525I;ENSP00000419862:R453I	.|ENSP00000309296:R539I	E|R	-|-	1|2	0|0	DHX36|DHX36	155494285|155494285	0.993000|0.993000	0.37304|0.37304	0.979000|0.979000	0.43373|0.43373	0.944000|0.944000	0.59088|0.59088	0.328000|0.328000	0.19681|0.19681	-0.440000|-0.440000	0.07211|0.07211	-0.225000|-0.225000	0.12378|0.12378	GAA|AGA		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
GPR149	344758	broad.mit.edu	37	3	154055623	154055623	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154055623G>T	ENST00000389740.2	-	4	2160	c.2061C>A	c.(2059-2061)atC>atA	p.I687I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	687					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I687I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGGAGATATTAATAT	0.433																																					p.I687I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2061A	3						.						268.0	246.0	253.0					3																	154055623		1915	4142	6057	155538317	SO:0001819	synonymous_variant	344758	exon4			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2061C>A	3.37:g.154055623G>T			155538317	NM_001038705		Silent	SNP	ENST00000389740.2	37	CCDS43162.1																																																																																				0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
GPR149	344758	broad.mit.edu	37	3	154146591	154146591	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154146591C>T	ENST00000389740.2	-	1	913	c.814G>A	c.(814-816)Gac>Aac	p.D272N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	272					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D272N(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACACGGTGTCGGAGCTCGGA	0.682																																					p.D272N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	3						.						31.0	35.0	34.0					3																	154146591		1879	4115	5994	155629285	SO:0001583	missense	344758	exon1			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.814G>A	3.37:g.154146591C>T	ENSP00000374390:p.Asp272Asn		155629285	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397902	0.42512	.	.	ENSG00000174948	ENST00000389740	T	0.28895	1.59	4.4	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.300662	0.36972	N	0.002310	T	0.26955	0.0660	M	0.66439	2.03	0.09310	N	1	P	0.44816	0.844	B	0.35655	0.207	T	0.30909	-0.9962	10	0.72032	D	0.01	-14.5785	7.8788	0.29610	0.0:0.7202:0.1492:0.1305	.	272	Q86SP6	GP149_HUMAN	N	272	ENSP00000374390:D272N	ENSP00000374390:D272N	D	-	1	0	GPR149	155629285	0.751000	0.28327	0.043000	0.18650	0.003000	0.03518	2.101000	0.41787	1.060000	0.40578	0.655000	0.94253	GAC		0.682	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
HACL1	26061	broad.mit.edu	37	3	15602373	15602373	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:15602373T>C	ENST00000321169.5	-	17	2103	c.1736A>G	c.(1735-1737)tAa>tGa	p.*579*	HACL1_ENST00000451445.2_Silent_p.*497*|HACL1_ENST00000457447.2_Silent_p.*519*|HACL1_ENST00000435217.2_Silent_p.*338*|HACL1_ENST00000456194.2_Silent_p.*552*	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	0					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)	p.*579*(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CGTCTTTATTTACATATTAGA	0.323																																					p.X579X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1736G	3						.						71.0	74.0	73.0					3																	15602373		2203	4300	6503	15577377	SO:0001819	synonymous_variant	26061	exon17			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1736A>G	3.37:g.15602373T>C			15577377	NM_012260	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Silent	SNP	ENST00000321169.5	37	CCDS2627.1																																																																																				0.323	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260	
GPR149	344758	broad.mit.edu	37	3	154146749	154146749	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154146749G>A	ENST00000389740.2	-	1	755	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	219					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S219L(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGGCTCCTCCGAACACAGCAA	0.577																																					p.S219L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656T	3						.						51.0	57.0	55.0					3																	154146749		1920	4133	6053	155629443	SO:0001583	missense	344758	exon1			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.656C>T	3.37:g.154146749G>A	ENSP00000374390:p.Ser219Leu		155629443	NM_001038705		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154431	0.57259	.	.	ENSG00000174948	ENST00000389740	T	0.69806	-0.43	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.122271	0.56097	D	0.000024	T	0.81697	0.4877	M	0.76838	2.35	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.83861	0.0268	10	0.87932	D	0	-13.5881	14.7772	0.69738	0.0:0.1439:0.8561:0.0	.	219	Q86SP6	GP149_HUMAN	L	219	ENSP00000374390:S219L	ENSP00000374390:S219L	S	-	2	0	GPR149	155629443	1.000000	0.71417	0.905000	0.35620	0.147000	0.21601	6.861000	0.75478	2.541000	0.85698	0.655000	0.94253	TCG		0.577	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
MME	4311	broad.mit.edu	37	3	154858002	154858002	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154858002G>A	ENST00000460393.1	+	10	998	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	MME_ENST00000493237.1_Missense_Mutation_p.R293Q|MME_ENST00000492661.1_Missense_Mutation_p.R293Q|MME_ENST00000360490.2_Missense_Mutation_p.R293Q|MME_ENST00000462745.1_Missense_Mutation_p.R293Q	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	293					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.R293Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCTGAAGATCGAAATGATCCA	0.308																																					p.R293Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	3						.						76.0	70.0	72.0					3																	154858002		2203	4300	6503	156340696	SO:0001583	missense	4311	exon10				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.878G>A	3.37:g.154858002G>A	ENSP00000418525:p.Arg293Gln		156340696	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681353	0.88542	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.23	5.23	0.72850	Peptidase M13 (1);	0.140473	0.45867	D	0.000338	D	0.88081	0.6341	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89682	0.3891	10	0.87932	D	0	-11.4936	19.1928	0.93674	0.0:0.0:1.0:0.0	.	293	P08473	NEP_HUMAN	Q	293	ENSP00000420389:R293Q;ENSP00000418525:R293Q;ENSP00000419653:R293Q;ENSP00000417079:R293Q;ENSP00000353679:R293Q	ENSP00000353679:R293Q	R	+	2	0	MME	156340696	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	8.363000	0.90103	2.596000	0.87737	0.655000	0.94253	CGA		0.308	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
MME	4311	broad.mit.edu	37	3	154860030	154860030	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154860030C>A	ENST00000460393.1	+	12	1219	c.1099C>A	c.(1099-1101)Ctt>Att	p.L367I	MME_ENST00000493237.1_Missense_Mutation_p.L367I|MME_ENST00000492661.1_Missense_Mutation_p.L367I|MME_ENST00000360490.2_Missense_Mutation_p.L367I|MME_ENST00000462745.1_Missense_Mutation_p.L367I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	367					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.L367I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATACAGAGATCTTCAAAATTT	0.418																																					p.L367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099A	3						.						92.0	98.0	96.0					3																	154860030		2202	4300	6502	156342724	SO:0001583	missense	4311	exon12				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1099C>A	3.37:g.154860030C>A	ENSP00000418525:p.Leu367Ile		156342724	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444407	0.25987	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.94	5.94	0.96194	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.39397	1.21	0.54753	D	0.999983	B	0.02656	0.0	B	0.16722	0.016	T	0.56105	-0.8034	10	0.19590	T	0.45	-21.2841	9.3309	0.38021	0.1452:0.7835:0.0:0.0713	.	367	P08473	NEP_HUMAN	I	367	ENSP00000420389:L367I;ENSP00000418525:L367I;ENSP00000419653:L367I;ENSP00000417079:L367I;ENSP00000353679:L367I	ENSP00000353679:L367I	L	+	1	0	MME	156342724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.150000	0.42254	2.807000	0.96579	0.591000	0.81541	CTT		0.418	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
MME	4311	broad.mit.edu	37	3	154862150	154862150	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:154862150C>T	ENST00000460393.1	+	14	1440	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V	MME_ENST00000493237.1_Silent_p.V440V|MME_ENST00000492661.1_Silent_p.V440V|MME_ENST00000360490.2_Silent_p.V440V|MME_ENST00000462745.1_Silent_p.V440V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	440					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.V440V(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATTTGAGGTCGAGGATTTGA	0.343																																					p.V440V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C1320T	3						.						90.0	93.0	92.0					3																	154862150		2203	4300	6503	156344844	SO:0001819	synonymous_variant	4311	exon14				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1320C>T	3.37:g.154862150C>T			156344844	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.343	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
PLCH1	23007	broad.mit.edu	37	3	155271965	155271965	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155271965C>T	ENST00000340059.7	-	8	1053	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	PLCH1_ENST00000334686.6_Missense_Mutation_p.D334N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D352N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D334N|PLCH1_ENST00000494598.1_Missense_Mutation_p.D352N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D334N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	352	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D334N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTCTCCATCTGGGCCATCC	0.393																																					p.D352N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1054A	3						.						121.0	112.0	115.0					3																	155271965		2203	4300	6503	156754659	SO:0001583	missense	23007	exon8			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1054G>A	3.37:g.155271965C>T	ENSP00000345988:p.Asp352Asn		156754659	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165039	0.94727	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	5.62	5.62	0.85841	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.050765	0.85682	D	0.000000	T	0.70527	0.3234	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.984	T	0.71318	-0.4629	10	0.66056	D	0.02	.	19.6718	0.95914	0.0:1.0:0.0:0.0	.	334;352;352	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	352;334;352;352;334;334	ENSP00000419100:D352N;ENSP00000417502:D334N;ENSP00000402759:D352N;ENSP00000345988:D352N;ENSP00000335469:D334N;ENSP00000412977:D334N	ENSP00000335469:D334N	D	-	1	0	PLCH1	156754659	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	5.941000	0.70195	2.639000	0.89480	0.557000	0.71058	GAT		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PLCH1	23007	broad.mit.edu	37	3	155282848	155282848	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155282848C>A	ENST00000340059.7	-	7	888	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	PLCH1_ENST00000334686.6_Missense_Mutation_p.V279L|PLCH1_ENST00000447496.2_Missense_Mutation_p.V297L|PLCH1_ENST00000460012.1_Missense_Mutation_p.V279L|PLCH1_ENST00000494598.1_Missense_Mutation_p.V297L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V279L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	297					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V279L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTGGTACACTTCATGGTGC	0.458																																					p.V297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889T	3						.						164.0	145.0	151.0					3																	155282848		2203	4300	6503	156765542	SO:0001583	missense	23007	exon7			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.889G>T	3.37:g.155282848C>A	ENSP00000345988:p.Val297Leu		156765542	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671081	0.67814	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.070148	0.56097	D	0.000026	T	0.49338	0.1551	M	0.84773	2.715	0.54753	D	0.999988	D;D;P	0.60575	0.985;0.988;0.918	P;D;P	0.65323	0.891;0.934;0.499	T	0.48811	-0.9002	10	0.22109	T	0.4	.	11.9577	0.52991	0.0:0.9205:0.0:0.0795	.	279;297;297	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	297;279;297;297;279;279	ENSP00000419100:V297L;ENSP00000417502:V279L;ENSP00000402759:V297L;ENSP00000345988:V297L;ENSP00000335469:V279L;ENSP00000412977:V279L	ENSP00000335469:V279L	V	-	1	0	PLCH1	156765542	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	4.852000	0.62904	2.371000	0.80710	0.655000	0.94253	GTG		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
C3orf33	285315	broad.mit.edu	37	3	155481612	155481612	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155481612G>T	ENST00000340171.2	-	5	677	c.579C>A	c.(577-579)atC>atA	p.I193I	C3orf33_ENST00000534941.1_Silent_p.I150I			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	193					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.I144I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGTCCAGTAGATTTTAGAAT	0.348																																					p.I150I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450A	3						.						32.0	27.0	29.0					3																	155481612		1796	4054	5850	156964306	SO:0001819	synonymous_variant	285315	exon6			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.579C>A	3.37:g.155481612G>T			156964306	NM_173657	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Silent	SNP	ENST00000340171.2	37																																																																																					0.348	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657	
C3orf33	285315	broad.mit.edu	37	3	155493558	155493558	+	Missense_Mutation	SNP	C	C	T	rs547864770		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155493558C>T	ENST00000340171.2	-	3	352	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	C3orf33_ENST00000534941.1_Missense_Mutation_p.R42Q			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	85					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.R36Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCAGTTATTCGGCGTAATCG	0.308													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14682	0.0		0.0	False		,,,				2504	0.0				p.R42Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125A	3						.						103.0	103.0	103.0					3																	155493558		1811	4066	5877	156976252	SO:0001583	missense	285315	exon4			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.254G>A	3.37:g.155493558C>T	ENSP00000342512:p.Arg85Gln		156976252	NM_173657	A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37		.	.	.	.	.	.	.	.	.	.	C	10.34	1.322119	0.23994	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46819	0.86;0.86	5.45	1.63	0.23807	.	0.528800	0.19690	N	0.108289	T	0.29355	0.0731	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.16630	-1.0396	10	0.22706	T	0.39	-2.4076	9.1843	0.37160	0.0:0.6476:0.0:0.3524	.	85	Q6P1S2	CC033_HUMAN	Q	42;85;85	ENSP00000445446:R42Q;ENSP00000342512:R85Q	ENSP00000342512:R85Q	R	-	2	0	C3orf33	156976252	0.585000	0.26774	0.805000	0.32314	0.982000	0.71751	0.247000	0.18179	0.671000	0.31185	-0.137000	0.14449	CGA		0.308	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657	
SLC33A1	9197	broad.mit.edu	37	3	155546024	155546024	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155546024G>A	ENST00000392845.3	-	6	2005	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S542L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	542					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.S542L(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCATTTCCACGAAGATGATCC	0.338																																					p.S542L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1625T	3						.						110.0	111.0	111.0					3																	155546024		2203	4300	6503	157028718	SO:0001583	missense	9197	exon6			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1625C>T	3.37:g.155546024G>A	ENSP00000376587:p.Ser542Leu		157028718	NM_004733	B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036764	0.75617	.	.	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	T;T;T	0.78126	-1.15;-1.15;-1.15	5.78	5.78	0.91487	.	0.118903	0.64402	D	0.000018	T	0.76271	0.3964	M	0.64170	1.965	0.80722	D	1	P	0.44044	0.825	B	0.36534	0.227	T	0.78904	-0.2020	10	0.52906	T	0.07	-10.4351	20.0585	0.97663	0.0:0.0:1.0:0.0	.	542	O00400	ACATN_HUMAN	L	542;542;178	ENSP00000376587:S542L;ENSP00000352456:S542L;ENSP00000419165:S178L	ENSP00000352456:S542L	S	-	2	0	SLC33A1	157028718	1.000000	0.71417	0.977000	0.42913	0.871000	0.50021	9.714000	0.98744	2.741000	0.93983	0.650000	0.86243	TCG		0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
KCNAB1	7881	broad.mit.edu	37	3	155861089	155861089	+	Intron	SNP	C	C	T	rs546028597	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:155861089C>T	ENST00000490337.1	+	1	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A41V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.A41V(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGCCTCAGGCGGCCTGCAAA	0.522													C|||	9	0.00179712	0.0	0.0	5008	,	,		16753	0.0		0.0	False		,,,				2504	0.0092				p.A41V												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C122T	3						.						58.0	56.0	57.0					3																	155861089		2203	4300	6503	157343783	SO:0001627	intron_variant	7881	exon1			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22414C>T	3.37:g.155861089C>T			157343783	NM_003471	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Intron	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175941	0.01646	.	.	ENSG00000169282	ENST00000471742	T	0.06449	3.3	5.17	0.952	0.19584	.	.	.	.	.	T	0.04363	0.0120	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.43163	-0.9408	8	0.54805	T	0.06	.	1.1332	0.01749	0.2962:0.3231:0.2263:0.1544	.	41	Q14722-3	.	V	41	ENSP00000418956:A41V	ENSP00000418956:A41V	A	+	2	0	KCNAB1	157343783	0.003000	0.15002	0.006000	0.13384	0.046000	0.14306	0.118000	0.15605	0.166000	0.19597	-0.268000	0.10319	GCG		0.522	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471	
TIPARP	25976	broad.mit.edu	37	3	156396084	156396084	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:156396084C>A	ENST00000461166.1	+	2	1186	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	TIPARP_ENST00000542783.1_Missense_Mutation_p.L200M|TIPARP_ENST00000486483.1_Missense_Mutation_p.L200M|TIPARP_ENST00000295924.7_Missense_Mutation_p.L200M	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	200					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L200M(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAATACATTCTGGACACCAG	0.423																																					p.L200M	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C598A	3						.						89.0	90.0	90.0					3																	156396084		2203	4300	6503	157878778	SO:0001583	missense	25976	exon2			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.598C>A	3.37:g.156396084C>A	ENSP00000420612:p.Leu200Met		157878778	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706152	0.30232	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.31769	2.52;2.52;2.52;1.48;2.52;2.52	5.38	4.22	0.49857	.	0.117429	0.37857	N	0.001920	T	0.18383	0.0441	N	0.19112	0.55	0.38138	D	0.938357	P	0.44578	0.838	B	0.41691	0.364	T	0.07908	-1.0748	10	0.46703	T	0.11	.	5.1076	0.14793	0.1349:0.1507:0.0:0.7145	.	200	Q7Z3E1	PARPT_HUMAN	M	200	ENSP00000418757:L200M;ENSP00000295924:L200M;ENSP00000420612:L200M;ENSP00000419982:L200M;ENSP00000418829:L200M;ENSP00000438345:L200M	ENSP00000295924:L200M	L	+	1	2	TIPARP	157878778	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.332000	0.33805	0.877000	0.35895	-0.414000	0.06135	CTG		0.423	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
TIPARP	25976	broad.mit.edu	37	3	156396212	156396212	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:156396212T>G	ENST00000461166.1	+	2	1314	c.726T>G	c.(724-726)atT>atG	p.I242M	TIPARP_ENST00000542783.1_Missense_Mutation_p.I242M|TIPARP_ENST00000486483.1_Missense_Mutation_p.I242M|TIPARP_ENST00000295924.7_Missense_Mutation_p.I242M	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	242					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I242M(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAATTGAAATTTGCATGGACT	0.453																																					p.I242M	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T726G	3						.						142.0	149.0	147.0					3																	156396212		2203	4300	6503	157878906	SO:0001583	missense	25976	exon2			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.726T>G	3.37:g.156396212T>G	ENSP00000420612:p.Ile242Met		157878906	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733095	0.48939	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.54	1.94	0.25998	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.81497	2.545	0.43740	D	0.996238	D	0.89917	1.0	D	0.87578	0.998	T	0.56402	-0.7985	10	0.87932	D	0	.	3.5783	0.07942	0.1702:0.3574:0.0:0.4725	.	242	Q7Z3E1	PARPT_HUMAN	M	242	ENSP00000418757:I242M;ENSP00000295924:I242M;ENSP00000420612:I242M;ENSP00000419982:I242M;ENSP00000418829:I242M;ENSP00000438345:I242M	ENSP00000295924:I242M	I	+	3	3	TIPARP	157878906	0.975000	0.34042	1.000000	0.80357	0.988000	0.76386	0.098000	0.15189	0.406000	0.25560	-0.376000	0.06991	ATT		0.453	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
TIPARP	25976	broad.mit.edu	37	3	156396354	156396354	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:156396354G>A	ENST00000461166.1	+	2	1456	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TIPARP_ENST00000542783.1_Missense_Mutation_p.E290K|TIPARP_ENST00000486483.1_Missense_Mutation_p.E290K|TIPARP_ENST00000295924.7_Missense_Mutation_p.E290K	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	290					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E290K(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAGCACTTGGAAAGATTTTA	0.363																																					p.E290K	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	3						.						70.0	72.0	71.0					3																	156396354		2203	4300	6503	157879048	SO:0001583	missense	25976	exon2			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.868G>A	3.37:g.156396354G>A	ENSP00000420612:p.Glu290Lys		157879048	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791503	0.70452	.	.	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.59638	1.34;1.34;1.34;0.25;1.34;1.34	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.82193	2.58	0.80722	D	1	P	0.38535	0.635	B	0.32677	0.15	T	0.71206	-0.4661	10	0.87932	D	0	.	18.6261	0.91340	0.0:0.0:1.0:0.0	.	290	Q7Z3E1	PARPT_HUMAN	K	290	ENSP00000418757:E290K;ENSP00000295924:E290K;ENSP00000420612:E290K;ENSP00000419982:E290K;ENSP00000418829:E290K;ENSP00000438345:E290K	ENSP00000295924:E290K	E	+	1	0	TIPARP	157879048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.498000	0.84270	0.563000	0.77884	GAA		0.363	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
LEKR1	389170	broad.mit.edu	37	3	156710960	156710960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:156710960G>T	ENST00000470811.1	+	10	1426	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	LEKR1_ENST00000356539.4_Nonsense_Mutation_p.E335*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	31								p.E31*(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGAAAAGCAAGAAGAAGACAT	0.348																																					p.E335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1003T	3						.						77.0	80.0	79.0					3																	156710960		2203	4297	6500	158193654	SO:0001587	stop_gained	389170	exon9			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.91G>T	3.37:g.156710960G>T	ENSP00000418214:p.Glu31*		158193654	NM_001004316		Nonsense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.316878	0.81469	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	.	.	.	4.97	4.03	0.46877	.	0.105342	0.41823	D	0.000820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-11.4194	13.5073	0.61491	0.0:0.1576:0.8424:0.0	.	.	.	.	X	31;335	.	ENSP00000348936:E335X	E	+	1	0	LEKR1	158193654	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	3.043000	0.49823	2.307000	0.77673	0.591000	0.81541	GAA		0.348	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
RSRC1	51319	broad.mit.edu	37	3	157921011	157921011	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:157921011G>T	ENST00000295930.3	+	4	633	c.471G>T	c.(469-471)aaG>aaT	p.K157N	RSRC1_ENST00000475278.2_Missense_Mutation_p.K157N|RSRC1_ENST00000480820.1_Missense_Mutation_p.K157N|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	157					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.K157N(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ggaaggacaaggaATTACATA	0.423																																					p.K157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G471T	3						.						95.0	103.0	100.0					3																	157921011		2203	4300	6503	159403705	SO:0001583	missense	51319	exon4			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.471G>T	3.37:g.157921011G>T	ENSP00000295930:p.Lys157Asn		159403705	NM_016625	A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.82|14.82	2.648411|2.648411	0.47258|0.47258	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000482822|ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899	.|.	.|.	.|.	5.04|5.04	3.05|3.05	0.35203|0.35203	.|.	.|0.207512	.|0.48286	.|D	.|0.000190	.|T	.|0.45875	.|0.1364	L|L	0.48642|0.48642	1.525|1.525	0.41680|0.41680	D|D	0.989289|0.989289	.|B	.|0.15930	.|0.015	.|B	.|0.14578	.|0.011	.|T	.|0.40001	.|-0.9586	.|9	.|0.66056	.|D	.|0.02	.|.	5.2634|5.2634	0.15586|0.15586	0.2187:0.1679:0.6134:0.0|0.2187:0.1679:0.6134:0.0	.|.	.|157	.|Q96IZ7	.|RSRC1_HUMAN	X|N	51|157	.|.	.|ENSP00000295930:K157N	G|K	+|+	1|3	0|2	RSRC1|RSRC1	159403705|159403705	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.972000|0.972000	0.66771|0.66771	0.945000|0.945000	0.29056|0.29056	0.475000|0.475000	0.27415|0.27415	0.591000|0.591000	0.81541|0.81541	GGA|AAG		0.423	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625	
GFM1	85476	broad.mit.edu	37	3	158378752	158378752	+	Silent	SNP	C	C	T	rs199976566		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:158378752C>T	ENST00000486715.1	+	10	1668	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	GFM1_ENST00000264263.5_Silent_p.S456S|GFM1_ENST00000478576.1_Silent_p.S437S|GFM1_ENST00000490261.1_3'UTR	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.S437S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGCCAACAGCGGCCTTTCTA	0.363																																					p.S437S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1311T	3						.	T		0,4406		0,0,2203	119.0	118.0	118.0		1311	-0.6	0.1	3		118	1,8599	819.2+/-406.8	0,1,4299	yes	coding-synonymous	GFM1	NM_024996.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		437/752	158378752	1,13005	2203	4300	6503	159861446	SO:0001819	synonymous_variant	85476	exon10			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1311C>T	3.37:g.158378752C>T			159861446	NM_024996		Silent	SNP	ENST00000486715.1	37	CCDS33885.1																																																																																				0.363	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996	
MFSD1	64747	broad.mit.edu	37	3	158531818	158531818	+	Missense_Mutation	SNP	C	C	A	rs9867246		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:158531818C>A	ENST00000264266.8	+	7	676	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	MFSD1_ENST00000415822.2_Missense_Mutation_p.S254Y|MFSD1_ENST00000392813.4_Missense_Mutation_p.S215Y			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	205					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S205Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGTTAGGTTCTGCTGGTCAC	0.413																																					p.S254Y	Pancreas(62;1186 1654 36636 37908)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761A	3						.						182.0	147.0	159.0					3																	158531818		2203	4300	6503	160014512	SO:0001583	missense	64747	exon7			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.614C>A	3.37:g.158531818C>A	ENSP00000264266:p.Ser205Tyr		160014512	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Missense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	c	2.917	-0.224150	0.06061	.	.	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000361159;ENST00000477743	T;T;T;T	0.24350	2.1;2.11;2.13;1.86	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.131953	0.52532	D	0.000067	T	0.22704	0.0548	L	0.54323	1.7	0.48696	D	0.999698	B;B	0.14012	0.009;0.003	B;B	0.20577	0.03;0.01	T	0.06935	-1.0799	10	0.02654	T	1	.	14.3318	0.66561	0.1576:0.8424:0.0:0.0	.	215;205	C9JS94;Q9H3U5	.;MFSD1_HUMAN	Y	254;215;205;129;39	ENSP00000403117:S254Y;ENSP00000376560:S215Y;ENSP00000264266:S205Y;ENSP00000417163:S39Y	ENSP00000264266:S205Y	S	+	2	0	MFSD1	160014512	0.006000	0.16342	1.000000	0.80357	0.584000	0.36387	1.250000	0.32850	2.424000	0.82194	0.650000	0.86243	TCT		0.413	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	
IL12A	3592	broad.mit.edu	37	3	159711541	159711541	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:159711541C>A	ENST00000305579.2	+	6	823	c.516C>A	c.(514-516)ttC>ttA	p.F172L	IL12A_ENST00000466512.1_Missense_Mutation_p.F158L|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.F134L	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	138					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)	p.F172L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGGTGGAGTTCAAGACCATGA	0.438																																					p.F172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C516A	3						.						147.0	143.0	144.0					3																	159711541		2203	4300	6503	161194235	SO:0001583	missense	3592	exon6			M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.516C>A	3.37:g.159711541C>A	ENSP00000303231:p.Phe172Leu		161194235	NM_000882	Q96QZ1	Missense_Mutation	SNP	ENST00000305579.2	37	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021632	0.35701	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.44	4.37	0.52481	.	0.263229	0.44285	N	0.000467	T	0.46502	0.1396	L	0.42245	1.32	0.36767	D	0.88357	B	0.19706	0.038	B	0.17979	0.02	T	0.49532	-0.8930	9	0.31617	T	0.26	-19.9236	9.9741	0.41772	0.0:0.8929:0.0:0.1071	.	172	O60595	.	L	172;134;158	.	ENSP00000303231:F172L	F	+	3	2	IL12A	161194235	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.689000	0.37700	2.551000	0.86045	0.655000	0.94253	TTC		0.438	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	
IFT80	57560	broad.mit.edu	37	3	159995155	159995155	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:159995155G>A	ENST00000326448.7	-	18	2470	c.2038C>T	c.(2038-2040)Ctt>Ttt	p.L680F	IFT80_ENST00000483465.1_Missense_Mutation_p.L543F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L851F|IFT80_ENST00000496589.1_Missense_Mutation_p.L543F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	680					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.L680F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCAGCCTGAAGAAGTACTATT	0.358																																					p.L543F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1627T	3						.						120.0	120.0	120.0					3																	159995155		2203	4300	6503	161477849	SO:0001583	missense	57560	exon17			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2038C>T	3.37:g.159995155G>A	ENSP00000312778:p.Leu680Phe		161477849	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849884	0.71603	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.89617	-2.54;-2.54;-2.54	5.36	4.49	0.54785	.	0.000000	0.48767	U	0.000175	D	0.93621	0.7963	M	0.88105	2.93	0.58432	D	0.999999	D	0.76494	0.999	P	0.60345	0.873	D	0.93705	0.7019	10	0.72032	D	0.01	-19.9347	9.947	0.41616	0.1535:0.0:0.8465:0.0	.	680	Q9P2H3	IFT80_HUMAN	F	680;543;543	ENSP00000312778:L680F;ENSP00000418196:L543F;ENSP00000420646:L543F	ENSP00000312778:L680F	L	-	1	0	IFT80	161477849	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.157000	0.64911	1.243000	0.43853	0.655000	0.94253	CTT		0.358	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
IFT80	57560	broad.mit.edu	37	3	159997001	159997001	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:159997001T>G	ENST00000326448.7	-	16	2248	c.1816A>C	c.(1816-1818)Aga>Cga	p.R606R	IFT80_ENST00000483465.1_Silent_p.R469R|RP11-432B6.3_ENST00000483754.1_Silent_p.R777R|IFT80_ENST00000496589.1_Silent_p.R469R	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	606					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.R606R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGACAAAGTCTCACAGCATCT	0.343																																					p.R469R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1405C	3						.						87.0	83.0	84.0					3																	159997001		2203	4300	6503	161479695	SO:0001819	synonymous_variant	57560	exon15			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1816A>C	3.37:g.159997001T>G			161479695	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	CCDS3188.1																																																																																				0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
IFT80	57560	broad.mit.edu	37	3	160021752	160021752	+	Missense_Mutation	SNP	T	T	G	rs377753000		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160021752T>G	ENST00000326448.7	-	11	1534	c.1102A>C	c.(1102-1104)Ata>Cta	p.I368L	IFT80_ENST00000483465.1_Missense_Mutation_p.I231L|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.I539L|IFT80_ENST00000496589.1_Missense_Mutation_p.I231L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	368					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.I368L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGATCAAATATAATTGGTGTG	0.284																																					p.I231L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A691C	3						.						65.0	72.0	70.0					3																	160021752		2202	4294	6496	161504446	SO:0001583	missense	57560	exon10			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1102A>C	3.37:g.160021752T>G	ENSP00000312778:p.Ile368Leu		161504446	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.432288	0.83776	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000483325	T;T;T	0.79033	2.34;-1.23;-1.23	5.26	5.26	0.73747	WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000013	T	0.80149	0.4570	M	0.87900	2.915	0.80722	D	1	P	0.47350	0.894	B	0.43950	0.437	T	0.80246	-0.1462	10	0.07990	T	0.79	.	14.8639	0.70401	0.0:0.0:0.0:1.0	.	368	Q9P2H3	IFT80_HUMAN	L	368;231;231;49	ENSP00000312778:I368L;ENSP00000418196:I231L;ENSP00000420646:I231L	ENSP00000312778:I368L	I	-	1	0	IFT80	161504446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.767000	0.68850	1.993000	0.58246	0.528000	0.53228	ATA		0.284	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
SMC4	10051	broad.mit.edu	37	3	160120552	160120552	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160120552A>T	ENST00000357388.3	+	4	858	c.407A>T	c.(406-408)aAa>aTa	p.K136I	SMC4_ENST00000344722.5_Missense_Mutation_p.K136I|SMC4_ENST00000462787.1_Missense_Mutation_p.K136I|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000360111.2_Missense_Mutation_p.K136I|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.K111I|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	136					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.K136I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGAGCACAAAAAATAAGATCT	0.328																																					p.K136I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A407T	3						.						84.0	88.0	86.0					3																	160120552		2203	4300	6503	161603246	SO:0001583	missense	10051	exon4			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.407A>T	3.37:g.160120552A>T	ENSP00000349961:p.Lys136Ile		161603246	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	31	5.063538	0.93898	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.38	5.38	0.77491	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.994	D	0.89840	0.4002	10	0.72032	D	0.01	-29.0305	15.3883	0.74723	1.0:0.0:0.0:0.0	.	136;111;136	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	I	136;136;136;136;136;136;11;11;111;136;136;136;64;136	ENSP00000418820:K136I;ENSP00000349961:K136I;ENSP00000419247:K136I;ENSP00000420644:K136I;ENSP00000353225:K136I;ENSP00000417999:K11I;ENSP00000419360:K11I;ENSP00000417964:K111I;ENSP00000420121:K136I;ENSP00000420734:K136I;ENSP00000420817:K136I;ENSP00000417612:K64I;ENSP00000341382:K136I	ENSP00000341382:K136I	K	+	2	0	SMC4	161603246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.284000	0.95882	2.034000	0.60081	0.402000	0.26972	AAA		0.328	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
SMC4	10051	broad.mit.edu	37	3	160122245	160122245	+	Nonsense_Mutation	SNP	C	C	T	rs368979205		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160122245C>T	ENST00000357388.3	+	5	1091	c.640C>T	c.(640-642)Cga>Tga	p.R214*	SMC4_ENST00000344722.5_Nonsense_Mutation_p.R214*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.R214*|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000360111.2_Nonsense_Mutation_p.R214*|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000469762.1_Nonsense_Mutation_p.R189*|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	214					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.R214*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAATCTTCTTCGAAGCCATGG	0.313																																					p.R214X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C640T	3						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	77.0	75.0		640,640	3.2	1.0	3		75	0,8596		0,0,4298	no	stop-gained,stop-gained	SMC4	NM_001002800.1,NM_005496.3	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	214/1289,214/1289	160122245	1,13001	2203	4298	6501	161604939	SO:0001587	stop_gained	10051	exon5			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.640C>T	3.37:g.160122245C>T	ENSP00000349961:p.Arg214*		161604939	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Nonsense_Mutation	SNP	ENST00000357388.3	37	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	39	7.835362	0.98516	2.27E-4	0.0	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000485867;ENST00000344722	.	.	.	6.16	3.18	0.36537	.	0.061018	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0965	11.9534	0.52968	0.2523:0.6323:0.1154:0.0	.	.	.	.	X	214;214;214;89;89;189;214;214;142;214	.	ENSP00000341382:R214X	R	+	1	2	SMC4	161604939	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.290000	0.51755	0.834000	0.34852	0.650000	0.86243	CGA		0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
SMC4	10051	broad.mit.edu	37	3	160148846	160148846	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160148846A>G	ENST00000357388.3	+	20	3418	c.2967A>G	c.(2965-2967)gaA>gaG	p.E989E	SMC4_ENST00000344722.5_Silent_p.E989E|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000469762.1_Silent_p.E964E|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	989					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E989E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCAGAAAGAACATCGCAATC	0.333																																					p.E989E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2967G	3						.						53.0	55.0	54.0					3																	160148846		2203	4297	6500	161631540	SO:0001819	synonymous_variant	10051	exon20			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2967A>G	3.37:g.160148846A>G			161631540	NM_001002800	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	CCDS3189.1																																																																																				0.333	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1		
TRIM59	286827	broad.mit.edu	37	3	160156323	160156323	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160156323C>T	ENST00000309784.4	-	3	834	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	TRIM59_ENST00000543469.1_Missense_Mutation_p.E217K|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.E217K	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	217					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E217K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAGTATATTCTTGATTAATT	0.338																																					p.E217K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	3						.						78.0	81.0	80.0					3																	160156323		2201	4298	6499	161639017	SO:0001583	missense	286827	exon3			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.649G>A	3.37:g.160156323C>T	ENSP00000311219:p.Glu217Lys		161639017	NM_173084	A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454382	0.63290	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.23147	2.1;1.92	5.77	3.97	0.46021	.	0.306226	0.36972	N	0.002314	T	0.21103	0.0508	L	0.42245	1.32	0.29373	N	0.863845	B	0.10296	0.003	B	0.06405	0.002	T	0.10042	-1.0647	9	.	.	.	-20.6031	11.8766	0.52550	0.0:0.8061:0.0:0.1939	.	217	Q8IWR1	TRI59_HUMAN	K	217	ENSP00000444313:E217K;ENSP00000311219:E217K	.	E	-	1	0	TRIM59	161639017	0.861000	0.29849	1.000000	0.80357	0.976000	0.68499	1.020000	0.30027	1.449000	0.47699	0.561000	0.74099	GAA		0.338	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
KPNA4	3840	broad.mit.edu	37	3	160254612	160254612	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160254612C>T	ENST00000334256.4	-	2	391	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	29	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.R29Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AACTTCATTTCGTTGTCTTCT	0.279																																					p.R29Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G86A	3						.						130.0	134.0	132.0					3																	160254612		2197	4277	6474	161737306	SO:0001583	missense	3840	exon2			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.86G>A	3.37:g.160254612C>T	ENSP00000334373:p.Arg29Gln		161737306	NM_002268	A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286469	0.95517	.	.	ENSG00000186432	ENST00000334256	T	0.78003	-1.14	6.07	6.07	0.98685	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93008	0.6429	10	0.72032	D	0.01	-3.57	20.2543	0.98414	0.0:1.0:0.0:0.0	.	29	O00629	IMA4_HUMAN	Q	29	ENSP00000334373:R29Q	ENSP00000334373:R29Q	R	-	2	0	KPNA4	161737306	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.323000	0.79105	2.890000	0.99128	0.650000	0.86243	CGA		0.279	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
GALNT15	117248	broad.mit.edu	37	3	16260953	16260953	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:16260953G>T	ENST00000339732.5	+	7	1939	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	GALNT15_ENST00000437509.1_Missense_Mutation_p.R479I	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	479					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R479I(1)									CTGCAAAGGAGACTGGGTTGT	0.527																																					p.R479I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436T	3						.						212.0	193.0	199.0					3																	16260953		2203	4300	6503	16235957	SO:0001583	missense	117248	exon7			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1436G>T	3.37:g.16260953G>T	ENSP00000344260:p.Arg479Ile		16235957	NM_054110	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.417881	0.83449	.	.	ENSG00000131386	ENST00000339732;ENST00000437509;ENST00000543679	T;T	0.71103	-0.54;-0.54	5.64	3.8	0.43715	.	0.243367	0.47455	D	0.000228	T	0.78984	0.4370	M	0.91818	3.245	0.80722	D	1	P	0.50710	0.938	P	0.45971	0.499	T	0.82719	-0.0318	10	0.87932	D	0	.	12.6843	0.56940	0.0:0.1264:0.742:0.1316	.	479	Q8N3T1	GLTL2_HUMAN	I	479;479;9	ENSP00000344260:R479I;ENSP00000395873:R479I	ENSP00000344260:R479I	R	+	2	0	GALNTL2	16235957	1.000000	0.71417	0.603000	0.28903	0.992000	0.81027	6.846000	0.75399	0.696000	0.31696	0.555000	0.69702	AGA		0.527	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
B3GALNT1	8706	broad.mit.edu	37	3	160804109	160804109	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160804109C>T	ENST00000392781.2	-	8	1181	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R145Q|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R145Q	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	145					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R145Q(2)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAAATCTTGTCGGATTATGTC	0.383																																					p.R145Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G434A	3						.						88.0	85.0	86.0					3																	160804109		2203	4300	6503	162286803	SO:0001583	missense	8706	exon4			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.434G>A	3.37:g.160804109C>T	ENSP00000376532:p.Arg145Gln		162286803	NM_033168	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	2.192	-0.385129	0.04966	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.75	5.75	0.90469	.	0.102222	0.43579	D	0.000551	T	0.13628	0.0330	N	0.01019	-1.045	0.28629	N	0.907741	B	0.21753	0.06	B	0.12837	0.008	T	0.11916	-1.0568	10	0.02654	T	1	.	12.2651	0.54674	0.0:0.9228:0.0:0.0772	.	145	O75752	B3GL1_HUMAN	Q	145	ENSP00000323479:R145Q;ENSP00000376530:R145Q;ENSP00000376531:R145Q;ENSP00000376532:R145Q;ENSP00000418226:R145Q;ENSP00000420163:R145Q	ENSP00000323479:R145Q	R	-	2	0	B3GALNT1	162286803	0.000000	0.05858	0.992000	0.48379	0.795000	0.44927	0.888000	0.28268	2.713000	0.92767	0.462000	0.41574	CGA		0.383	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
NMD3	51068	broad.mit.edu	37	3	160942826	160942826	+	Silent	SNP	G	G	A	rs534269025		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:160942826G>A	ENST00000460469.1	+	2	608	c.153G>A	c.(151-153)tcG>tcA	p.S51S	NMD3_ENST00000472947.1_Silent_p.S51S|NMD3_ENST00000351193.2_Silent_p.S51S|NMD3_ENST00000478160.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	51					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.S51S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AACAAGTCTCGATTTCGTTCT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16636	0.0		0.0	False		,,,				2504	0.0				p.S51S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G153A	3						.						194.0	185.0	188.0					3																	160942826		2203	4300	6503	162425520	SO:0001819	synonymous_variant	51068	exon3			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.153G>A	3.37:g.160942826G>A			162425520	NM_015938	D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	CCDS3194.1																																																																																				0.413	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
RFTN1	23180	broad.mit.edu	37	3	16358557	16358557	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:16358557G>A	ENST00000334133.4	-	10	1787	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	OXNAD1_ENST00000435829.2_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.S469S|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	505					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.S505S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TCATCTCCTCGGAGACTCCAC	0.547																																					p.S505S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1515T	3						.						126.0	113.0	117.0					3																	16358557		2203	4300	6503	16333561	SO:0001819	synonymous_variant	23180	exon10			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1515C>T	3.37:g.16358557G>A			16333561	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	CCDS33712.1																																																																																				0.547	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
RFTN1	23180	broad.mit.edu	37	3	16475390	16475390	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:16475390G>T	ENST00000334133.4	-	3	572	c.300C>A	c.(298-300)atC>atA	p.I100I	RFTN1_ENST00000432519.1_Silent_p.I64I	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	100					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.I100I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGGCTCTAAAGATGTGCTCCA	0.592																																					p.I100I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300A	3						.						142.0	149.0	147.0					3																	16475390		2203	4300	6503	16450394	SO:0001819	synonymous_variant	23180	exon3			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.300C>A	3.37:g.16475390G>T			16450394	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	CCDS33712.1																																																																																				0.592	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
OTOL1	131149	broad.mit.edu	37	3	161214959	161214959	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:161214959G>T	ENST00000327928.4	+	1	364	c.364G>T	c.(364-366)Ggt>Tgt	p.G122C		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	122	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.G122C(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGACAGCCAGGTATTAGAAA	0.428																																					p.G122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364T	3						.						68.0	66.0	66.0					3																	161214959		1845	4093	5938	162697653	SO:0001630	splice_region_variant	131149	exon1				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.364+1G>T	3.37:g.161214959G>T			162697653	NM_001080440		Missense_Mutation	SNP	ENST00000327928.4	37	CCDS46948.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918633	0.73098	.	.	ENSG00000182447	ENST00000327928	D	0.99369	-5.78	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.99312	4.51	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.97128	0.9816	10	0.87932	D	0	.	17.2473	0.87031	0.0:0.0:1.0:0.0	.	122	A6NHN0	OTOL1_HUMAN	C	122	ENSP00000330808:G122C	ENSP00000330808:G122C	G	+	1	0	OTOL1	162697653	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	7.187000	0.77730	2.673000	0.90976	0.650000	0.86243	GGT		0.428	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440	Missense_Mutation
SI	6476	broad.mit.edu	37	3	164733756	164733756	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:164733756C>A	ENST00000264382.3	-	32	3934	c.3872G>T	c.(3871-3873)aGa>aTa	p.R1291I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1291	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R1291I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATAATGTATCTCATTCCTTC	0.398										HNSCC(35;0.089)																											p.R1291I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3872T	3						.						164.0	171.0	169.0					3																	164733756		2203	4300	6503	166216450	SO:0001583	missense	6476	exon32			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3872G>T	3.37:g.164733756C>A	ENSP00000264382:p.Arg1291Ile		166216450	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498856	0.64298	.	.	ENSG00000090402	ENST00000264382	D	0.93811	-3.29	5.06	2.22	0.28083	Glycoside hydrolase, superfamily (1);	0.210802	0.48767	D	0.000162	D	0.96658	0.8909	M	0.93016	3.37	0.47778	D	0.999513	D	0.76494	0.999	D	0.79784	0.993	D	0.95598	0.8660	10	0.87932	D	0	.	8.2414	0.31662	0.0:0.6833:0.0:0.3167	.	1291	P14410	SUIS_HUMAN	I	1291	ENSP00000264382:R1291I	ENSP00000264382:R1291I	R	-	2	0	SI	166216450	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	1.298000	0.33412	0.704000	0.31869	-0.218000	0.12543	AGA		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164750471	164750471	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:164750471C>A	ENST00000264382.3	-	24	2637	c.2575G>T	c.(2575-2577)Gat>Tat	p.D859Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	859	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D859Y(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CACACAATATCTAATGTGTTC	0.323										HNSCC(35;0.089)																											p.D859Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2575T	3						.						88.0	82.0	84.0					3																	164750471		2202	4299	6501	166233165	SO:0001583	missense	6476	exon24			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2575G>T	3.37:g.164750471C>A	ENSP00000264382:p.Asp859Tyr		166233165	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216284	0.22373	.	.	ENSG00000090402	ENST00000264382	D	0.89123	-2.47	4.78	-7.68	0.01268	.	1.904780	0.02047	N	0.049733	D	0.83087	0.5178	L	0.41573	1.285	0.09310	N	1	P	0.35050	0.482	B	0.32533	0.147	T	0.76030	-0.3108	10	0.59425	D	0.04	.	11.7054	0.51595	0.0:0.1664:0.1033:0.7303	.	859	P14410	SUIS_HUMAN	Y	859	ENSP00000264382:D859Y	ENSP00000264382:D859Y	D	-	1	0	SI	166233165	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.270000	0.02831	-1.923000	0.01065	-0.302000	0.09304	GAT		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164766991	164766991	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:164766991C>T	ENST00000264382.3	-	15	1701	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	547	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D547N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGCACAGCATCCATGCAAATT	0.328										HNSCC(35;0.089)																											p.D547N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1639A	3						.						94.0	86.0	89.0					3																	164766991		2203	4300	6503	166249685	SO:0001583	missense	6476	exon15			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1639G>A	3.37:g.164766991C>T	ENSP00000264382:p.Asp547Asn		166249685	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996079	0.93167	.	.	ENSG00000090402	ENST00000264382	D	0.94138	-3.36	5.24	5.24	0.73138	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	M	0.68728	2.09	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.95896	0.8911	10	0.52906	T	0.07	.	18.1694	0.89740	0.0:1.0:0.0:0.0	.	547	P14410	SUIS_HUMAN	N	547	ENSP00000264382:D547N	ENSP00000264382:D547N	D	-	1	0	SI	166249685	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.578000	0.82498	2.613000	0.88420	0.460000	0.39030	GAT		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	broad.mit.edu	37	3	164908359	164908359	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:164908359T>C	ENST00000475390.1	-	2	703	c.260A>G	c.(259-261)aAt>aGt	p.N87S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N87S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	87					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.N87S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTCATAGAATTCCTCTGCAG	0.353										HNSCC(40;0.11)																											p.N87S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A260G	3						.						63.0	66.0	65.0					3																	164908359		2203	4299	6502	166391053	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.260A>G	3.37:g.164908359T>C	ENSP00000420091:p.Asn87Ser		166391053	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376937	0.61735	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.87887	0.18;0.18;-2.31	6.11	6.11	0.99139	.	0.000000	0.40469	N	0.001097	D	0.94948	0.8366	M	0.92784	3.345	0.51233	D	0.999915	D	0.63880	0.993	D	0.68192	0.956	D	0.95770	0.8808	10	0.72032	D	0.01	-19.4118	16.7021	0.85357	0.0:0.0:0.0:1.0	.	87	O94933	SLIK3_HUMAN	S	87	ENSP00000420091:N87S;ENSP00000241274:N87S;ENSP00000419611:N87S	ENSP00000241274:N87S	N	-	2	0	SLITRK3	166391053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.343000	0.79666	0.533000	0.62120	AAT		0.353	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
SLITRK3	22865	broad.mit.edu	37	3	164908564	164908564	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:164908564G>T	ENST00000475390.1	-	2	498	c.55C>A	c.(55-57)Ctt>Att	p.L19I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L19I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	19					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L19I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTGCTTAGAAGAATTATCCAC	0.418										HNSCC(40;0.11)																											p.L19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55A	3						.						91.0	84.0	87.0					3																	164908564		2202	4300	6502	166391258	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.55C>A	3.37:g.164908564G>T	ENSP00000420091:p.Leu19Ile		166391258	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154407	0.57259	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.70749	0.5;0.5;-0.51	6.01	6.01	0.97437	.	0.000000	0.34133	N	0.004231	T	0.79839	0.4515	L	0.41492	1.28	0.39453	D	0.967436	D	0.63880	0.993	D	0.67548	0.952	T	0.79303	-0.1859	10	0.52906	T	0.07	-16.3635	20.5182	0.99214	0.0:0.0:1.0:0.0	.	19	O94933	SLIK3_HUMAN	I	19	ENSP00000420091:L19I;ENSP00000241274:L19I;ENSP00000419611:L19I	ENSP00000241274:L19I	L	-	1	0	SLITRK3	166391258	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.161000	0.77505	2.860000	0.98153	0.655000	0.94253	CTT		0.418	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
BCHE	590	broad.mit.edu	37	3	165548409	165548409	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:165548409A>C	ENST00000264381.3	-	2	579	c.413T>G	c.(412-414)tTg>tGg	p.L138W	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	138					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.L138W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATCCATATCAATACAGTGGC	0.388																																					p.L138W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T413G	3						.						60.0	63.0	62.0					3																	165548409		2203	4300	6503	167031103	SO:0001583	missense	590	exon2			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.413T>G	3.37:g.165548409A>C	ENSP00000264381:p.Leu138Trp		167031103	NM_000055	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.693127	0.48202	.	.	ENSG00000114200	ENST00000264381	T	0.71934	-0.61	5.83	5.83	0.93111	Carboxylesterase, type B (1);	0.080786	0.85682	D	0.000000	D	0.87249	0.6130	M	0.92268	3.29	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.90281	0.4315	10	0.87932	D	0	.	15.3793	0.74641	1.0:0.0:0.0:0.0	.	138	P06276	CHLE_HUMAN	W	138	ENSP00000264381:L138W	ENSP00000264381:L138W	L	-	2	0	BCHE	167031103	1.000000	0.71417	0.938000	0.37757	0.297000	0.27493	9.210000	0.95106	2.226000	0.72624	0.533000	0.62120	TTG		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
SERPINI2	5276	broad.mit.edu	37	3	167184846	167184846	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:167184846C>A	ENST00000476257.1	-	4	773	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000471111.1_Missense_Mutation_p.D159Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.D159Y|SERPINI2_ENST00000461846.1_Missense_Mutation_p.D159Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	159					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D159Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACTTTACCATCTGTTTTTCTT	0.333																																					p.D159Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475T	3						.						67.0	69.0	68.0					3																	167184846		2202	4300	6502	168667540	SO:0001583	missense	5276	exon3			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.475G>T	3.37:g.167184846C>A	ENSP00000420621:p.Asp159Tyr		168667540	NM_006217		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907855	0.33721	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	T;T;T;T;T;D	0.83250	-0.91;-0.91;-0.91;-0.91;-0.91;-1.7	5.7	4.83	0.62350	Serpin domain (3);	0.272597	0.41194	D	0.000936	D	0.87309	0.6145	L	0.60845	1.875	0.38726	D	0.953567	D;D	0.58268	0.982;0.982	D;D	0.64687	0.928;0.928	D	0.88409	0.3020	10	0.59425	D	0.04	.	10.0452	0.42182	0.0:0.7907:0.1376:0.0717	.	159;159	B4DDY9;O75830	.;SPI2_HUMAN	Y	159;159;159;159;159;144	ENSP00000420621:D159Y;ENSP00000417692:D159Y;ENSP00000264677:D159Y;ENSP00000419407:D159Y;ENSP00000417752:D159Y;ENSP00000419255:D144Y	ENSP00000264677:D159Y	D	-	1	0	SERPINI2	168667540	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.250000	0.32850	1.417000	0.47077	0.655000	0.94253	GAT		0.333	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	
SERPINI1	5274	broad.mit.edu	37	3	167508239	167508239	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:167508239T>G	ENST00000295777.5	+	3	761	c.330T>G	c.(328-330)aaT>aaG	p.N110K	SERPINI1_ENST00000446050.2_Missense_Mutation_p.N110K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	110					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N110K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AAATTGCCAATTCCTTGTTTG	0.328																																					p.N110K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T330G	3						.						94.0	97.0	96.0					3																	167508239		2203	4300	6503	168990933	SO:0001583	missense	5274	exon3			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.330T>G	3.37:g.167508239T>G	ENSP00000295777:p.Asn110Lys		168990933	NM_001122752	A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469343	0.84533	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.63	3.32	0.38043	Serpin domain (3);	0.042369	0.85682	D	0.000000	D	0.94857	0.8338	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93648	0.6970	10	0.87932	D	0	.	5.0412	0.14460	0.0:0.3093:0.0:0.6907	.	110	Q99574	NEUS_HUMAN	K	110	ENSP00000420133:N110K;ENSP00000397373:N110K;ENSP00000295777:N110K;ENSP00000420561:N110K	ENSP00000295777:N110K	N	+	3	2	SERPINI1	168990933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.028000	0.41088	2.145000	0.66743	0.528000	0.53228	AAT		0.328	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		
PLCL2	23228	broad.mit.edu	37	3	17052230	17052230	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:17052230A>C	ENST00000418129.2	+	2	1479	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.K338N|PLCL2_ENST00000396755.2_Missense_Mutation_p.K338N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	464					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.K338N(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAGCTCTTAAAATGGGTTGCC	0.428																																					p.K458T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1373C	3						.						112.0	113.0	112.0					3																	17052230		2203	4300	6503	17027234	SO:0001583	missense	23228	exon3			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1014A>C	3.37:g.17052230A>C	ENSP00000409637:p.Lys338Asn		17027234	NM_001144382	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.87|15.87	2.959659|2.959659	0.53400|0.53400	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|T	0.64260|0.64260	-0.09;-0.09;-0.09|-0.09	5.96|5.96	0.883|0.883	0.19177|0.19177	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);|.	0.046630|0.046630	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.55768|0.55768	0.1941|0.1941	.|.	.|.	.|.	0.51012|0.51012	D|D	0.999908|0.999908	D|.	0.67145|.	0.996|.	D|.	0.66497|.	0.944|.	T|T	0.41928|0.41928	-0.9481|-0.9481	9|7	0.21540|0.21014	T|T	0.41|0.42	.|.	9.5535|9.5535	0.39324|0.39324	0.7197:0.0:0.2803:0.0|0.7197:0.0:0.2803:0.0	.|.	464|.	Q9UPR0|.	PLCL2_HUMAN|.	N|T	338;465;338;338|82	ENSP00000409637:K338N;ENSP00000379979:K338N;ENSP00000412836:K338N|ENSP00000404433:K82T	ENSP00000285094:K465N|ENSP00000404433:K82T	K|K	+|+	3|2	2|0	PLCL2|PLCL2	17027234|17027234	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	1.792000|1.792000	0.38754|0.38754	0.160000|0.160000	0.19432|0.19432	-0.250000|-0.250000	0.11733|0.11733	AAA|AAA		0.428	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
GOLIM4	27333	broad.mit.edu	37	3	167764758	167764758	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:167764758C>T	ENST00000470487.1	-	3	981	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E98K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	98	Endosome targeting.|Golgi targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E98K(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTAATGTTTCTTGTGCTTCT	0.259																																					p.E98K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G292A	3						.						24.0	27.0	26.0					3																	167764758		2167	4258	6425	169247452	SO:0001583	missense	27333	exon3			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.292G>A	3.37:g.167764758C>T	ENSP00000417354:p.Glu98Lys		169247452	NM_014498		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521194	0.85600	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.98	5.98	0.97165	.	0.102226	0.64402	D	0.000001	T	0.75451	0.3851	L	0.53729	1.69	0.46927	D	0.99925	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.68413	-0.5415	9	0.23891	T	0.37	-23.069	18.7015	0.91621	0.0:1.0:0.0:0.0	.	98;98	F8W785;O00461	.;GOLI4_HUMAN	K	98	.	ENSP00000309893:E98K	E	-	1	0	GOLIM4	169247452	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.855000	0.62925	2.861000	0.98227	0.650000	0.86243	GAA		0.259	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
MECOM	2122	broad.mit.edu	37	3	168812978	168812978	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:168812978G>A	ENST00000464456.1	-	11	3514	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	MECOM_ENST00000472280.1_Missense_Mutation_p.R782C|MECOM_ENST00000264674.3_Missense_Mutation_p.R846C|MECOM_ENST00000460814.1_Missense_Mutation_p.R772C|MECOM_ENST00000468789.1_Missense_Mutation_p.R781C|MECOM_ENST00000433243.2_Missense_Mutation_p.R782C|MECOM_ENST00000494292.1_Missense_Mutation_p.R960C|MECOM_ENST00000392736.3_Missense_Mutation_p.R781C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R781C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGATGTTGCGAACATGCCTT	0.338																																					p.R846C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2536T	3						.						136.0	118.0	125.0					3																	168812978		2203	4300	6503	170295672	SO:0001583	missense	2122	exon13			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2314C>T	3.37:g.168812978G>A	ENSP00000419770:p.Arg772Cys		170295672	NM_001105077	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169400	0.38315	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.64	4.75	0.60458	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	0.55940	0.1952	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999	D;P;D;D;D	0.76575	0.979;0.797;0.988;0.96;0.971	T	0.65121	-0.6245	10	0.87932	D	0	-0.3271	15.7903	0.78350	0.0:0.0:0.8628:0.1372	.	969;773;960;846;781	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	C	846;781;772;782;960;781;772;782	ENSP00000264674:R846C;ENSP00000376493:R781C;ENSP00000419770:R772C;ENSP00000420048:R782C;ENSP00000417899:R960C;ENSP00000419995:R781C;ENSP00000420466:R772C;ENSP00000394302:R782C	ENSP00000264674:R846C	R	-	1	0	MECOM	170295672	1.000000	0.71417	0.983000	0.44433	0.393000	0.30537	7.814000	0.86154	1.361000	0.45981	0.561000	0.74099	CGC		0.338	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
ACTRT3	84517	broad.mit.edu	37	3	169485981	169485981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169485981C>A	ENST00000330368.2	-	2	732	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	120						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.E120*(1)									AAAAACATTTCCGTGATCTGT	0.507																																					p.E120X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G358T	3						.						89.0	91.0	90.0					3																	169485981		2203	4300	6503	170968675	SO:0001587	stop_gained	84517	exon2			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.358G>T	3.37:g.169485981C>A	ENSP00000333037:p.Glu120*		170968675	NM_032487	Q96IS0|Q96NJ0	Nonsense_Mutation	SNP	ENST00000330368.2	37	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929265	0.73327	.	.	ENSG00000184378	ENST00000330368	.	.	.	4.84	3.96	0.45880	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.98	0.58557	0.0:0.5575:0.4425:0.0	.	.	.	.	X	120	.	ENSP00000333037:E120X	E	-	1	0	AC078802.1	170968675	0.941000	0.31946	0.091000	0.20842	0.000000	0.00434	1.560000	0.36331	1.392000	0.46585	-0.175000	0.13238	GAA		0.507	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487	
MYNN	55892	broad.mit.edu	37	3	169496770	169496770	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169496770G>T	ENST00000349841.5	+	3	1144	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	MYNN_ENST00000356716.4_Missense_Mutation_p.D161Y|MYNN_ENST00000392733.1_Missense_Mutation_p.D161Y|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.D161Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D161Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGTATCTACAGATTTGATTCA	0.373																																					p.D161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G481T	3						.						48.0	52.0	51.0					3																	169496770		2203	4300	6503	170979464	SO:0001583	missense	55892	exon3			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.481G>T	3.37:g.169496770G>T	ENSP00000326240:p.Asp161Tyr		170979464	NM_018657	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700899	0.48307	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.10382	3.06;3.06;2.88;2.88	5.35	5.35	0.76521	.	0.330535	0.29799	N	0.011164	T	0.18257	0.0438	N	0.14661	0.345	0.36721	D	0.8812	D;D	0.76494	0.974;0.999	P;D	0.77557	0.66;0.99	T	0.17684	-1.0361	10	0.72032	D	0.01	.	14.6423	0.68734	0.0:0.1453:0.8547:0.0	.	161;161	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Y	161	ENSP00000349150:D161Y;ENSP00000326240:D161Y;ENSP00000376492:D161Y;ENSP00000440637:D161Y	ENSP00000326240:D161Y	D	+	1	0	MYNN	170979464	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	3.893000	0.56243	2.510000	0.84645	0.650000	0.86243	GAT		0.373	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657	
LRRC34	151827	broad.mit.edu	37	3	169514580	169514580	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169514580A>G	ENST00000316515.7	-	7	1002	c.726T>C	c.(724-726)tgT>tgC	p.C242C	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522526.2_Silent_p.C255C|LRRC34_ENST00000446859.1_Silent_p.C287C|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Silent_p.C226C	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	242								p.C242C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACAGTGCATCACATAACTGTT	0.363																																					p.C287C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T861C	3						.						140.0	117.0	125.0					3																	169514580		2203	4300	6503	170997274	SO:0001819	synonymous_variant	151827	exon8			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.726T>C	3.37:g.169514580A>G			170997274	NM_001172779	B4DEJ7|E9PBH2|G5E9T7	Silent	SNP	ENST00000316515.7	37																																																																																					0.363	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	
LRRIQ4	344657	broad.mit.edu	37	3	169550786	169550786	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169550786T>G	ENST00000340806.6	+	4	1345	c.1345T>G	c.(1345-1347)Tta>Gta	p.L449V		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	449								p.L449V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTGAAAGAATTACGGCTGGA	0.413																																					p.L449V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1345G	3						.						62.0	60.0	61.0					3																	169550786		1837	4089	5926	171033480	SO:0001583	missense	344657	exon4				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1345T>G	3.37:g.169550786T>G	ENSP00000342188:p.Leu449Val		171033480	NM_001080460		Missense_Mutation	SNP	ENST00000340806.6	37	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.325889	0.41197	.	.	ENSG00000188306	ENST00000340806	T	0.80994	-1.44	5.56	0.403	0.16350	.	0.000000	0.49305	D	0.000153	D	0.84986	0.5594	L	0.60067	1.865	0.31963	N	0.608191	D	0.76494	0.999	D	0.74023	0.982	D	0.85000	0.0899	10	0.87932	D	0	.	10.8567	0.46802	0.0:0.5044:0.0:0.4956	.	449	A6NIV6	LRIQ4_HUMAN	V	449	ENSP00000342188:L449V	ENSP00000342188:L449V	L	+	1	2	LRRIQ4	171033480	0.982000	0.34865	0.899000	0.35326	0.374000	0.29953	0.099000	0.15210	0.075000	0.16796	-0.441000	0.05720	TTA		0.413	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
LRRIQ4	344657	broad.mit.edu	37	3	169555341	169555341	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169555341G>A	ENST00000340806.6	+	5	1605	c.1605G>A	c.(1603-1605)aaG>aaA	p.K535K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	535								p.K535K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AACCACAAAAGAAAGGAAAGA	0.368																																					p.K535K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1605A	3						.						60.0	55.0	57.0					3																	169555341		1844	4101	5945	171038035	SO:0001819	synonymous_variant	344657	exon5				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1605G>A	3.37:g.169555341G>A			171038035	NM_001080460		Silent	SNP	ENST00000340806.6	37	CCDS46951.1																																																																																				0.368	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460	
LRRC31	79782	broad.mit.edu	37	3	169557856	169557856	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169557856G>T	ENST00000316428.5	-	9	1630	c.1573C>A	c.(1573-1575)Ctc>Atc	p.L525I	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.L469I	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	525								p.L525I(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GAAGCTGGGAGAATCCATCTT	0.398																																					p.L525I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573A	3						.						132.0	120.0	124.0					3																	169557856		1891	4115	6006	171040550	SO:0001583	missense	79782	exon9			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1573C>A	3.37:g.169557856G>T	ENSP00000325978:p.Leu525Ile		171040550	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	2.628	-0.287059	0.05605	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.12039	2.72;2.81	4.87	1.52	0.23074	.	0.514297	0.20145	N	0.098281	T	0.07098	0.0180	N	0.12182	0.205	0.27356	N	0.956111	P;B	0.36683	0.565;0.214	B;B	0.36092	0.217;0.031	T	0.30880	-0.9963	10	0.30078	T	0.28	-0.5607	9.3107	0.37903	0.0762:0.0:0.6459:0.2778	.	469;525	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	I	525;469	ENSP00000325978:L525I;ENSP00000264676:L469I	ENSP00000264676:L469I	L	-	1	0	LRRC31	171040550	0.785000	0.28726	0.007000	0.13788	0.071000	0.16799	0.870000	0.28010	0.424000	0.26061	0.650000	0.86243	CTC		0.398	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
LRRC31	79782	broad.mit.edu	37	3	169569520	169569520	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169569520T>C	ENST00000316428.5	-	7	1103	c.1046A>G	c.(1045-1047)aAa>aGa	p.K349R	LRRC31_ENST00000523069.1_Missense_Mutation_p.K349R|LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000264676.5_Missense_Mutation_p.K293R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	349								p.K349R(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCCCATCTTTTTGTTGGCTGA	0.388																																					p.K349R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1046G	3						.						126.0	119.0	121.0					3																	169569520		1833	4087	5920	171052214	SO:0001583	missense	79782	exon7			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1046A>G	3.37:g.169569520T>C	ENSP00000325978:p.Lys349Arg		171052214	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575604	0.28092	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.53423	0.62;0.62;0.62	4.89	-1.6	0.08426	.	0.196490	0.52532	N	0.000075	T	0.22975	0.0555	N	0.10874	0.06	0.23371	N	0.997817	B;P	0.34639	0.096;0.461	B;B	0.35240	0.038;0.198	T	0.28681	-1.0036	10	0.21540	T	0.41	-2.9984	9.5527	0.39319	0.0:0.3873:0.0:0.6127	.	293;349	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	R	349;293;349	ENSP00000325978:K349R;ENSP00000264676:K293R;ENSP00000429145:K349R	ENSP00000264676:K293R	K	-	2	0	LRRC31	171052214	0.692000	0.27719	0.290000	0.24890	0.749000	0.42624	-0.110000	0.10824	-0.295000	0.08960	0.379000	0.24179	AAA		0.388	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
LRRC31	79782	broad.mit.edu	37	3	169574609	169574609	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169574609T>A	ENST00000316428.5	-	4	596	c.539A>T	c.(538-540)aAc>aTc	p.N180I	LRRC31_ENST00000523069.1_Missense_Mutation_p.N180I|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.N124I	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	180								p.N180I(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACTTTACTGTTCCAAGACAA	0.413																																					p.N180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539T	3						.						136.0	125.0	128.0					3																	169574609		1847	4098	5945	171057303	SO:0001583	missense	79782	exon4			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.539A>T	3.37:g.169574609T>A	ENSP00000325978:p.Asn180Ile		171057303	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809926	0.50421	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.62105	0.05;0.05;0.05	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	H	0.96208	3.785	0.47153	D	0.999335	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89811	0.3982	10	0.72032	D	0.01	-0.3502	14.3742	0.66862	0.0:0.0:0.0:1.0	.	124;180	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	I	180;124;180	ENSP00000325978:N180I;ENSP00000264676:N124I;ENSP00000429145:N180I	ENSP00000264676:N124I	N	-	2	0	LRRC31	171057303	1.000000	0.71417	0.982000	0.44146	0.112000	0.19704	5.564000	0.67359	1.800000	0.52685	0.528000	0.53228	AAC		0.413	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
LRRC31	79782	broad.mit.edu	37	3	169587528	169587528	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169587528T>G	ENST00000316428.5	-	1	125	c.68A>C	c.(67-69)aAa>aCa	p.K23T	LRRC31_ENST00000523069.1_Missense_Mutation_p.K23T|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.K23T	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	23								p.K23T(2)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTGAGAAATTTGTTGACAGT	0.453																																					p.K23T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A68C	3						.						136.0	127.0	129.0					3																	169587528		1825	4081	5906	171070222	SO:0001583	missense	79782	exon1			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.68A>C	3.37:g.169587528T>G	ENSP00000325978:p.Lys23Thr		171070222	NM_024727	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	6.312	0.425736	0.11987	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.11930	2.94;2.73;3.19	4.93	-1.7	0.08159	.	0.611505	0.15321	N	0.268533	T	0.08223	0.0205	L	0.27053	0.805	0.09310	N	1	P;P	0.44429	0.835;0.745	B;B	0.38156	0.266;0.193	T	0.24728	-1.0152	10	0.62326	D	0.03	.	9.0511	0.36376	0.0:0.4504:0.0:0.5496	.	23;23	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	T	23	ENSP00000325978:K23T;ENSP00000264676:K23T;ENSP00000429145:K23T	ENSP00000264676:K23T	K	-	2	0	LRRC31	171070222	0.017000	0.18338	0.000000	0.03702	0.009000	0.06853	-0.052000	0.11865	-0.154000	0.11118	-0.371000	0.07208	AAA		0.453	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
GPR160	26996	broad.mit.edu	37	3	169801761	169801761	+	Start_Codon_SNP	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169801761A>G	ENST00000355897.5	+	4	609	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.M1V(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AACTAAAAATATGACTGCTCT	0.358																																					p.M1V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1G	3						.						45.0	47.0	46.0					3																	169801761		2196	4292	6488	171284455	SO:0001582	initiator_codon_variant	26996	exon4			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.1A>G	3.37:g.169801761A>G	ENSP00000348161:p.Met1Val		171284455	NM_014373	D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804330	0.31869	.	.	ENSG00000173890	ENST00000355897;ENST00000492492;ENST00000485735;ENST00000482710;ENST00000473675	.	.	.	5.4	4.22	0.49857	.	0.144353	0.47455	D	0.000237	T	0.45558	0.1348	.	.	.	0.80722	D	1	P	0.42908	0.793	B	0.37692	0.256	T	0.47018	-0.9149	8	0.87932	D	0	-17.8374	11.1703	0.48567	0.8458:0.1542:0.0:0.0	.	1	Q9UJ42	GP160_HUMAN	V	1	.	ENSP00000348161:M1V	M	+	1	0	GPR160	171284455	1.000000	0.71417	0.987000	0.45799	0.161000	0.22273	6.046000	0.71029	0.855000	0.35359	-0.446000	0.05623	ATG		0.358	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373	Missense_Mutation
GPR160	26996	broad.mit.edu	37	3	169802505	169802505	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169802505C>A	ENST00000355897.5	+	4	1353	c.745C>A	c.(745-747)Ctc>Atc	p.L249I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L249I(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TGTCTGTTTTCTCAGTACCTG	0.313																																					p.L249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745A	3						.						92.0	91.0	92.0					3																	169802505		2203	4300	6503	171285199	SO:0001583	missense	26996	exon4			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.745C>A	3.37:g.169802505C>A	ENSP00000348161:p.Leu249Ile		171285199	NM_014373	D3DNQ2	Missense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496009	0.44352	.	.	ENSG00000173890	ENST00000355897	.	.	.	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.082496	0.50627	D	0.000120	T	0.76702	0.4024	M	0.65498	2.005	0.39762	D	0.972035	D	0.89917	1.0	D	0.68621	0.959	T	0.79184	-0.1908	9	0.66056	D	0.02	.	15.4448	0.75220	0.1393:0.8607:0.0:0.0	.	249	Q9UJ42	GP160_HUMAN	I	249	.	ENSP00000348161:L249I	L	+	1	0	GPR160	171285199	1.000000	0.71417	0.987000	0.45799	0.004000	0.04260	2.973000	0.49264	2.683000	0.91414	0.655000	0.94253	CTC		0.313	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373	
PHC3	80012	broad.mit.edu	37	3	169824661	169824661	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:169824661A>C	ENST00000494943.1	-	12	2459	c.2391T>G	c.(2389-2391)ttT>ttG	p.F797L	PHC3_ENST00000467570.1_Missense_Mutation_p.F756L|PHC3_ENST00000495893.2_Missense_Mutation_p.F809L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	797					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F778L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTGACCGCAAAAATTCATTAG	0.368																																					p.F809L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2427G	3						.						104.0	97.0	99.0					3																	169824661		1855	4091	5946	171307355	SO:0001583	missense	80012	exon12				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2391T>G	3.37:g.169824661A>C	ENSP00000420271:p.Phe797Leu		171307355	NM_024947	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37		.	.	.	.	.	.	.	.	.	.	A	25.3	4.622933	0.87460	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T;T	0.39997	1.05;1.05;1.05	5.95	4.82	0.62117	Zinc finger, FCS-type (1);	0.000000	0.64402	D	0.000001	T	0.55226	0.1907	L	0.61036	1.89	0.80722	D	1	D;B;B	0.67145	0.996;0.261;0.379	D;B;B	0.73380	0.98;0.082;0.169	T	0.56481	-0.7972	10	0.48119	T	0.1	-23.8061	6.3682	0.21468	0.7673:0.0:0.2327:0.0	.	756;797;809	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	L	797;809;756	ENSP00000420271:F797L;ENSP00000420294:F809L;ENSP00000419089:F756L	ENSP00000419089:F756L	F	-	3	2	PHC3	171307355	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.951000	0.63610	2.276000	0.75962	0.528000	0.53228	TTT		0.368	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947	
SKIL	6498	broad.mit.edu	37	3	170108139	170108139	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170108139G>T	ENST00000458537.3	+	4	2267	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	SKIL_ENST00000426052.2_Missense_Mutation_p.D500Y|SKIL_ENST00000413427.2_Missense_Mutation_p.D474Y|SKIL_ENST00000259119.4_Missense_Mutation_p.D520Y	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	520					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.D520Y(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCTTGTGAAAGATGTCATTTG	0.373																																					p.D520Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1558T	3						.						114.0	105.0	108.0					3																	170108139		2203	4300	6503	171590833	SO:0001583	missense	6498	exon5			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1558G>T	3.37:g.170108139G>T	ENSP00000415243:p.Asp520Tyr		171590833	NM_005414	A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959409	0.74016	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.92149	-2.94;-2.94;-2.98;-2.94	5.66	5.66	0.87406	.	0.169589	0.51477	D	0.000087	D	0.94922	0.8358	L	0.56769	1.78	0.48632	D	0.999689	D;D	0.63880	0.993;0.991	P;P	0.61592	0.891;0.804	D	0.94759	0.7934	10	0.72032	D	0.01	-24.5806	20.1197	0.97955	0.0:0.0:1.0:0.0	.	474;520	P12757-3;P12757	.;SKIL_HUMAN	Y	520;500;474;520	ENSP00000259119:D520Y;ENSP00000406520:D500Y;ENSP00000400193:D474Y;ENSP00000415243:D520Y	ENSP00000259119:D520Y	D	+	1	0	SKIL	171590833	1.000000	0.71417	0.996000	0.52242	0.451000	0.32288	6.708000	0.74660	2.838000	0.97847	0.591000	0.81541	GAT		0.373	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414	
SLC7A14	57709	broad.mit.edu	37	3	170198495	170198495	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170198495C>T	ENST00000231706.5	-	7	1891	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	526					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.E526K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TAAATATTTTCGGATTCATCA	0.478																																					p.E526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	3						.						158.0	158.0	158.0					3																	170198495		2203	4300	6503	171681189	SO:0001583	missense	57709	exon7			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1576G>A	3.37:g.170198495C>T	ENSP00000231706:p.Glu526Lys		171681189	NM_020949	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061572	0.55432	.	.	ENSG00000013293	ENST00000231706	D	0.87412	-2.25	5.6	5.6	0.85130	.	0.249066	0.46758	D	0.000279	T	0.80711	0.4675	L	0.44542	1.39	0.80722	D	1	B	0.33857	0.429	B	0.22386	0.039	T	0.78529	-0.2169	10	0.07990	T	0.79	.	19.6072	0.95585	0.0:1.0:0.0:0.0	.	526	Q8TBB6	S7A14_HUMAN	K	526	ENSP00000231706:E526K	ENSP00000231706:E526K	E	-	1	0	SLC7A14	171681189	1.000000	0.71417	0.990000	0.47175	0.488000	0.33401	7.395000	0.79876	2.627000	0.88993	0.655000	0.94253	GAA		0.478	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
SLC7A14	57709	broad.mit.edu	37	3	170204104	170204104	+	Silent	SNP	G	G	A	rs553438612	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170204104G>A	ENST00000231706.5	-	5	1128	c.813C>T	c.(811-813)atC>atT	p.I271I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	271					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.I271I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CAGTGGTGGCGATGATGTCAA	0.512													G|||	3	0.000599042	0.0	0.0	5008	,	,		20110	0.0		0.0	False		,,,				2504	0.0031				p.I271I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	3						.						336.0	250.0	279.0					3																	170204104		2203	4300	6503	171686798	SO:0001819	synonymous_variant	57709	exon5			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.813C>T	3.37:g.170204104G>A			171686798	NM_020949	B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	CCDS33892.1																																																																																				0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
SLC7A14	57709	broad.mit.edu	37	3	170244714	170244714	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170244714G>T	ENST00000231706.5	-	2	327	c.12C>A	c.(10-12)ttC>ttA	p.F4L	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	4					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.F4L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCGAGGTGAAGAAGCCACTCA	0.562																																					p.F4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12A	3						.						31.0	30.0	31.0					3																	170244714		2203	4300	6503	171727408	SO:0001583	missense	57709	exon2			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.12C>A	3.37:g.170244714G>T	ENSP00000231706:p.Phe4Leu		171727408	NM_020949	B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790598	0.02884	.	.	ENSG00000013293	ENST00000231706	D	0.84730	-1.89	5.08	3.25	0.37280	.	0.197860	0.45126	N	0.000395	T	0.58323	0.2114	N	0.01874	-0.695	0.28300	N	0.923169	B	0.02656	0.0	B	0.01281	0.0	T	0.51513	-0.8696	10	0.02654	T	1	.	8.3151	0.32095	0.244:0.0:0.756:0.0	.	4	Q8TBB6	S7A14_HUMAN	L	4	ENSP00000231706:F4L	ENSP00000231706:F4L	F	-	3	2	SLC7A14	171727408	1.000000	0.71417	0.979000	0.43373	0.402000	0.30811	0.933000	0.28897	0.621000	0.30232	0.561000	0.74099	TTC		0.562	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
TNIK	23043	broad.mit.edu	37	3	170781740	170781740	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170781740G>A	ENST00000436636.2	-	33	4357	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	TNIK_ENST00000488470.1_Missense_Mutation_p.S1283F|TNIK_ENST00000341852.6_Missense_Mutation_p.S1254F|TNIK_ENST00000470834.1_Missense_Mutation_p.S1301F|TNIK_ENST00000284483.8_Missense_Mutation_p.S1330F|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000538048.1_Missense_Mutation_p.S1290F|TNIK_ENST00000369326.5_Missense_Mutation_p.S1316F|TNIK_ENST00000460047.1_Missense_Mutation_p.S1275F|TNIK_ENST00000357327.5_Missense_Mutation_p.S1309F|TNIK_ENST00000475336.1_Missense_Mutation_p.S1246F	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1338					actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1338F(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGATCGCACGGATGCAAAAAA	0.408																																					p.S1254F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3761T	3						.						101.0	95.0	97.0					3																	170781740		1854	4101	5955	172264434	SO:0001583	missense	23043	exon31			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4013C>T	3.37:g.170781740G>A	ENSP00000399511:p.Ser1338Phe		172264434	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719683	0.68844	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	D;D;D;D;D;D;D;D;D;D	0.82619	-1.59;-1.59;-1.62;-1.6;-1.59;-1.58;-1.6;-1.63;-1.62;-1.59	5.97	5.97	0.96955	Citron-like (1);	0.000000	0.85682	D	0.000000	D	0.92097	0.7495	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.998;0.994;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.91635	0.989;0.999;0.992;0.989;0.998;0.996;0.992;0.995	D	0.92064	0.5659	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1246;1301;1275;1254;1330;1309;1283;1338	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	F	1338;1316;1290;1254;1330;1246;1309;1275;1283;1301	ENSP00000399511:S1338F;ENSP00000358332:S1316F;ENSP00000443278:S1290F;ENSP00000345352:S1254F;ENSP00000284483:S1330F;ENSP00000418156:S1246F;ENSP00000349880:S1309F;ENSP00000418916:S1275F;ENSP00000418378:S1283F;ENSP00000419990:S1301F	ENSP00000284483:S1330F	S	-	2	0	TNIK	172264434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TCC		0.408	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
TNIK	23043	broad.mit.edu	37	3	170786785	170786785	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170786785G>T	ENST00000436636.2	-	30	3895	c.3551C>A	c.(3550-3552)tCt>tAt	p.S1184Y	TNIK_ENST00000488470.1_Splice_Site_p.S1129Y|TNIK_ENST00000341852.6_Splice_Site_p.S1100Y|TNIK_ENST00000470834.1_Splice_Site_p.S1147Y|TNIK_ENST00000284483.8_Splice_Site_p.S1176Y|TNIK_ENST00000538048.1_Splice_Site_p.S1136Y|TNIK_ENST00000369326.5_Splice_Site_p.S1162Y|TNIK_ENST00000460047.1_Splice_Site_p.S1121Y|TNIK_ENST00000357327.5_Splice_Site_p.S1155Y|TNIK_ENST00000475336.1_Splice_Site_p.S1092Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1184	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1184Y(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATCTGCAAAAGACTTTAAAAA	0.378																																					p.S1100Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3299A	3						.						151.0	146.0	147.0					3																	170786785		1830	4081	5911	172269479	SO:0001630	splice_region_variant	23043	exon28			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3550-1C>A	3.37:g.170786785G>T			172269479	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593606	0.86953	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.86	5.86	0.93980	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.80847	2.515	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;0.985;0.994;0.994;0.994;0.985;0.994;0.998	D;D;P;D;D;D;P;D;D	0.77557	0.99;0.989;0.835;0.989;0.989;0.917;0.835;0.989;0.96	T	0.00847	-1.1542	10	0.87932	D	0	.	20.1781	0.98191	0.0:0.0:1.0:0.0	.	1136;1092;1147;1121;1100;1176;1155;1129;1184	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	Y	1184;1162;1136;1100;1176;1092;1155;1121;1129;1147	ENSP00000399511:S1184Y;ENSP00000358332:S1162Y;ENSP00000443278:S1136Y;ENSP00000345352:S1100Y;ENSP00000284483:S1176Y;ENSP00000418156:S1092Y;ENSP00000349880:S1155Y;ENSP00000418916:S1121Y;ENSP00000418378:S1129Y;ENSP00000419990:S1147Y	ENSP00000284483:S1176Y	S	-	2	0	TNIK	172269479	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.869000	0.99810	2.778000	0.95560	0.591000	0.81541	TCT		0.378	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	Missense_Mutation
TNIK	23043	broad.mit.edu	37	3	170828506	170828506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170828506G>A	ENST00000436636.2	-	19	2625	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*	TNIK_ENST00000488470.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R677*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R732*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R761*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R677*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R761*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTTTACCTCGAACTCTGGTG	0.542																																					p.R677X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2029T	3						.						45.0	47.0	46.0					3																	170828506		1976	4172	6148	172311200	SO:0001587	stop_gained	23043	exon17			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2281C>T	3.37:g.170828506G>A	ENSP00000399511:p.Arg761*		172311200	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368756	0.98241	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	6.17	5.25	0.73442	.	0.136497	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2717	0.82624	0.0:0.0:0.7991:0.2009	.	.	.	.	X	761;732;706;677;761;677;732;706;706;732	.	ENSP00000284483:R761X	R	-	1	2	TNIK	172311200	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.405000	0.44548	2.941000	0.99782	0.655000	0.94253	CGA		0.542	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
TBC1D5	9779	broad.mit.edu	37	3	17279689	17279689	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:17279689C>A	ENST00000253692.7	-	17	3218	c.1554G>T	c.(1552-1554)atG>atT	p.M518I	TBC1D5_ENST00000429383.4_Missense_Mutation_p.M518I|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.M518I|TBC1D5_ENST00000429924.2_Missense_Mutation_p.M470I	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	518						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.M518I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTTCTGATTTCATCAGCCTCT	0.463																																					p.M518I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1554T	3						.						59.0	59.0	59.0					3																	17279689		2203	4300	6503	17254693	SO:0001583	missense	9779	exon17			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1554G>T	3.37:g.17279689C>A	ENSP00000253692:p.Met518Ile		17254693	NM_001134380	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167034	0.38217	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.44083	1.51;1.51;1.51;0.93	5.89	5.89	0.94794	.	0.197406	0.56097	D	0.000029	T	0.39809	0.1092	L	0.47716	1.5	0.50171	D	0.999853	B;B;B;B	0.24882	0.011;0.113;0.025;0.025	B;B;B;B	0.17433	0.008;0.018;0.009;0.009	T	0.09422	-1.0675	10	0.33940	T	0.23	-16.7598	18.4274	0.90613	0.0:1.0:0.0:0.0	.	470;518;518;518	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	I	518;518;518;470	ENSP00000253692:M518I;ENSP00000398127:M518I;ENSP00000402935:M518I;ENSP00000411925:M470I	ENSP00000253692:M518I	M	-	3	0	TBC1D5	17254693	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.553000	0.60753	2.781000	0.95711	0.555000	0.69702	ATG		0.463	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
TNIK	23043	broad.mit.edu	37	3	170884890	170884890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:170884890C>A	ENST00000436636.2	-	10	1287	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	TNIK_ENST00000488470.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.E315*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.E315*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.E315*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.E315*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.E315*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.E315*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	315	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E315*(4)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAACCTTTTTCTCCTCGCTTC	0.413																																					p.E315X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G943T	3						.						171.0	151.0	157.0					3																	170884890		1905	4118	6023	172367584	SO:0001587	stop_gained	23043	exon10			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.943G>T	3.37:g.170884890C>A	ENSP00000399511:p.Glu315*		172367584	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	38	6.651490	0.97734	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	.	.	.	X	315;315;315;315;315;315;315;315;315;315;289	.	ENSP00000284483:E315X	E	-	1	0	TNIK	172367584	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.644000	0.89710	0.655000	0.94253	GAA		0.413	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PLD1	5337	broad.mit.edu	37	3	171320914	171320914	+	Missense_Mutation	SNP	G	G	T	rs376459861		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:171320914G>T	ENST00000351298.4	-	27	3305	c.3179C>A	c.(3178-3180)tCt>tAt	p.S1060Y	PLD1_ENST00000356327.5_Missense_Mutation_p.S1022Y|PLD1_ENST00000342215.6_3'UTR	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1060					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.S1060Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGTCCCAACAGAAGGCAGTAG	0.473																																					p.S1022Y	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3065A	3						.						95.0	94.0	94.0					3																	171320914		2203	4300	6503	172803608	SO:0001583	missense	5337	exon26			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.3179C>A	3.37:g.171320914G>T	ENSP00000342793:p.Ser1060Tyr		172803608	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180921	0.94846	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.06142	3.34;3.34	6.07	6.07	0.98685	.	0.050414	0.85682	D	0.000000	T	0.18341	0.0440	L	0.46947	1.48	0.80722	D	1	B;D	0.65815	0.06;0.995	B;P	0.62649	0.094;0.905	T	0.01771	-1.1277	10	0.19147	T	0.46	-6.0633	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1045;1060	Q59EA4;Q13393	.;PLD1_HUMAN	Y	1022;1060	ENSP00000348681:S1022Y;ENSP00000342793:S1060Y	ENSP00000342793:S1060Y	S	-	2	0	PLD1	172803608	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.835000	0.99442	2.890000	0.99128	0.650000	0.86243	TCT		0.473	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PLD1	5337	broad.mit.edu	37	3	171410184	171410184	+	Missense_Mutation	SNP	C	C	T	rs369183504		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:171410184C>T	ENST00000351298.4	-	13	1402	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	PLD1_ENST00000340989.4_Missense_Mutation_p.A426T|PLD1_ENST00000356327.5_Missense_Mutation_p.A426T|snoU13_ENST00000458788.1_RNA|PLD1_ENST00000342215.6_Missense_Mutation_p.A426T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	426					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.A426T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGCCAAGAGCGAGTTCCACC	0.418																																					p.A426T	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	3						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	160.0	147.0	151.0		1276,1276	5.6	1.0	3		151	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	PLD1	NM_001130081.2,NM_002662.4	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	426/1037,426/1075	171410184	2,13004	2203	4300	6503	172892878	SO:0001583	missense	5337	exon13			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1276G>A	3.37:g.171410184C>T	ENSP00000342793:p.Ala426Thr		172892878	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548521	0.96488	0.0	2.33E-4	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.60012	1.86	0.80722	D	1	D;P	0.89917	1.0;0.764	D;B	0.71184	0.972;0.371	T	0.29671	-1.0004	10	0.45353	T	0.12	-16.7302	19.9052	0.97004	0.0:1.0:0.0:0.0	.	449;426	Q59EA4;Q13393	.;PLD1_HUMAN	T	426	ENSP00000348681:A426T;ENSP00000342793:A426T;ENSP00000339936:A426T;ENSP00000340326:A426T	ENSP00000340326:A426T	A	-	1	0	PLD1	172892878	1.000000	0.71417	0.956000	0.39512	0.821000	0.46438	7.752000	0.85141	2.776000	0.95493	0.655000	0.94253	GCT		0.418	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
PLD1	5337	broad.mit.edu	37	3	171452705	171452705	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:171452705G>A	ENST00000351298.4	-	5	616	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	PLD1_ENST00000340989.4_Missense_Mutation_p.P164S|PLD1_ENST00000356327.5_Missense_Mutation_p.P164S|PLD1_ENST00000342215.6_Missense_Mutation_p.P164S	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	164	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.P164S(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GATGAACGGGGCAAACTGGGC	0.403																																					p.P164S	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	3						.						145.0	151.0	149.0					3																	171452705		2203	4300	6503	172935399	SO:0001583	missense	5337	exon5			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.490C>T	3.37:g.171452705G>A	ENSP00000342793:p.Pro164Ser		172935399	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686215	0.88639	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.34667	3.27;3.26;1.35;3.12	5.82	5.82	0.92795	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.78916	2.43	0.80722	D	1	D;B	0.64830	0.994;0.118	D;B	0.69142	0.962;0.2	T	0.63056	-0.6722	10	0.56958	D	0.05	-16.465	17.8743	0.88821	0.0:0.0:1.0:0.0	.	187;164	Q59EA4;Q13393	.;PLD1_HUMAN	S	164	ENSP00000348681:P164S;ENSP00000342793:P164S;ENSP00000339936:P164S;ENSP00000340326:P164S	ENSP00000340326:P164S	P	-	1	0	PLD1	172935399	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	6.672000	0.74477	2.748000	0.94277	0.655000	0.94253	CCC		0.403	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
FNDC3B	64778	broad.mit.edu	37	3	171969311	171969311	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:171969311C>T	ENST00000336824.4	+	6	869	c.770C>T	c.(769-771)tCg>tTg	p.S257L	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S257L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S257L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	257					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.S257L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCCCAAAGTCGAATGATTCA	0.468																																					p.S257L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C770T	3						.						70.0	72.0	72.0					3																	171969311		2203	4300	6503	173452005	SO:0001583	missense	64778	exon6			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.770C>T	3.37:g.171969311C>T	ENSP00000338523:p.Ser257Leu		173452005	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402789	0.62288	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.23950	1.88;1.88;1.88	5.64	5.64	0.86602	.	0.164902	0.53938	D	0.000041	T	0.31136	0.0787	L	0.57536	1.79	0.80722	D	1	P;P	0.50443	0.935;0.87	B;B	0.41571	0.36;0.069	T	0.04946	-1.0916	10	0.40728	T	0.16	-10.5655	19.6986	0.96043	0.0:1.0:0.0:0.0	.	257;257	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	L	257	ENSP00000411242:S257L;ENSP00000338523:S257L;ENSP00000389094:S257L	ENSP00000338523:S257L	S	+	2	0	FNDC3B	173452005	0.999000	0.42202	0.836000	0.33094	0.620000	0.37586	4.458000	0.60095	2.645000	0.89757	0.591000	0.81541	TCG		0.468	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
FNDC3B	64778	broad.mit.edu	37	3	172013157	172013157	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:172013157C>A	ENST00000336824.4	+	8	953	c.854C>A	c.(853-855)tCt>tAt	p.S285Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S285Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S285Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	285	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.S285Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCAGGTTTCTAATATTCAG	0.433																																					p.S285Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C854A	3						.						173.0	171.0	171.0					3																	172013157		2203	4300	6503	173495851	SO:0001583	missense	64778	exon8			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.854C>A	3.37:g.172013157C>A	ENSP00000338523:p.Ser285Tyr		173495851	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038973	0.75617	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.60299	0.2;0.2;0.2	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152355	0.64402	D	0.000012	T	0.78142	0.4237	M	0.79011	2.435	0.80722	D	1	P;D	0.69078	0.937;0.997	P;D	0.76071	0.797;0.987	T	0.79254	-0.1879	10	0.87932	D	0	-22.3578	19.2296	0.93833	0.0:1.0:0.0:0.0	.	285;285	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	285	ENSP00000411242:S285Y;ENSP00000338523:S285Y;ENSP00000389094:S285Y	ENSP00000338523:S285Y	S	+	2	0	FNDC3B	173495851	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.715000	0.61909	2.835000	0.97688	0.650000	0.86243	TCT		0.433	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
FNDC3B	64778	broad.mit.edu	37	3	172013251	172013251	+	Silent	SNP	C	C	T	rs139237887		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:172013251C>T	ENST00000336824.4	+	8	1047	c.948C>T	c.(946-948)taC>taT	p.Y316Y	FNDC3B_ENST00000416957.1_Silent_p.Y316Y|FNDC3B_ENST00000415807.2_Silent_p.Y316Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	316	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.Y316Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTACAGTTACGAGGTGGCCT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		17639	0.001		0.0	False		,,,				2504	0.0				p.Y316Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C948T	3						.						159.0	153.0	155.0					3																	172013251		2203	4300	6503	173495945	SO:0001819	synonymous_variant	64778	exon8			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.948C>T	3.37:g.172013251C>T			173495945	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																				0.428	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
FNDC3B	64778	broad.mit.edu	37	3	172064193	172064193	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:172064193C>A	ENST00000336824.4	+	20	2426	c.2327C>A	c.(2326-2328)tCt>tAt	p.S776Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S776Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S776Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	776	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.S776Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTGTATTTCTTGTACACCT	0.438																																					p.S776Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2327A	3						.						231.0	204.0	213.0					3																	172064193		2203	4300	6503	173546887	SO:0001583	missense	64778	exon20			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2327C>A	3.37:g.172064193C>A	ENSP00000338523:p.Ser776Tyr		173546887	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691984	0.30052	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.55052	0.54;0.54;0.54	6.02	6.02	0.97574	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.170447	0.53938	D	0.000044	T	0.45034	0.1322	L	0.34521	1.04	0.80722	D	1	B	0.19706	0.038	B	0.25759	0.063	T	0.33727	-0.9857	10	0.56958	D	0.05	-24.0904	13.6966	0.62582	0.0:0.93:0.0:0.07	.	776	Q53EP0	FND3B_HUMAN	Y	776	ENSP00000411242:S776Y;ENSP00000338523:S776Y;ENSP00000389094:S776Y	ENSP00000338523:S776Y	S	+	2	0	FNDC3B	173546887	1.000000	0.71417	0.776000	0.31678	0.012000	0.07955	7.016000	0.76393	2.857000	0.98124	0.650000	0.86243	TCT		0.438	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
GHSR	2693	broad.mit.edu	37	3	172166054	172166054	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:172166054G>A	ENST00000241256.2	-	1	192	c.150C>T	c.(148-150)tgC>tgT	p.C50C	GHSR_ENST00000427970.1_Silent_p.C50C	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	50					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.C50C(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGTGCCACGCAGGTGGCTG	0.682																																					p.C50C	Esophageal Squamous(93;641 1401 20883 29581 34638)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C150T	3						.						32.0	33.0	33.0					3																	172166054		2203	4299	6502	173648748	SO:0001819	synonymous_variant	2693	exon1			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.150C>T	3.37:g.172166054G>A			173648748	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	CCDS3218.1																																																																																				0.682	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
ECT2	1894	broad.mit.edu	37	3	172534527	172534527	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:172534527G>A	ENST00000392692.3	+	24	2731	c.2555G>A	c.(2554-2556)cGa>cAa	p.R852Q	ECT2_ENST00000417960.1_Missense_Mutation_p.R820Q|ECT2_ENST00000441497.2_Missense_Mutation_p.R821Q|ECT2_ENST00000540509.1_Missense_Mutation_p.R852Q|ECT2_ENST00000232458.5_Missense_Mutation_p.R821Q|ECT2_ENST00000427830.1_Missense_Mutation_p.R821Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	852					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.R821Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGAGCTCTTCGAAGGGCTCTT	0.403																																					p.R821Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2462A	3						.						80.0	81.0	80.0					3																	172534527		2203	4299	6502	174017221	SO:0001583	missense	1894	exon22			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2555G>A	3.37:g.172534527G>A	ENSP00000376457:p.Arg852Gln		174017221	NM_018098	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946431	0.34377	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.64618	-0.08;-0.07;-0.11;-0.08;-0.08;-0.07	5.58	5.58	0.84498	.	0.058315	0.64402	D	0.000001	T	0.46927	0.1418	L	0.29908	0.895	0.41234	D	0.986592	B;B;B;B;B	0.22346	0.008;0.002;0.068;0.014;0.022	B;B;B;B;B	0.18263	0.003;0.002;0.021;0.006;0.006	T	0.39121	-0.9629	10	0.15066	T	0.55	-9.2605	11.7764	0.51987	0.0816:0.0:0.9184:0.0	.	852;297;852;821;820	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	Q	821;852;821;820;821;852	ENSP00000232458:R821Q;ENSP00000376457:R852Q;ENSP00000401910:R821Q;ENSP00000415876:R820Q;ENSP00000412259:R821Q;ENSP00000443160:R852Q	ENSP00000232458:R821Q	R	+	2	0	ECT2	174017221	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.293000	0.65680	2.630000	0.89119	0.561000	0.74099	CGA		0.403	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
NLGN1	22871	broad.mit.edu	37	3	173322839	173322839	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:173322839G>A	ENST00000457714.1	+	3	880	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NLGN1_ENST00000401917.3_Missense_Mutation_p.E151K|NLGN1_ENST00000545397.1_Missense_Mutation_p.E151K|NLGN1_ENST00000361589.4_Missense_Mutation_p.E151K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	151					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.E151K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACCAGAGCGAAGACTGCCT	0.368																																					p.E151K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	3						.						104.0	106.0	105.0					3																	173322839		2203	4300	6503	174805533	SO:0001583	missense	22871	exon3			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.451G>A	3.37:g.173322839G>A	ENSP00000392500:p.Glu151Lys		174805533	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630505	0.87660	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97670	1.0166	10	0.87932	D	0	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	151;151	D2X2H5;Q8N2Q7-2	.;.	K	151	ENSP00000392500:E151K;ENSP00000354541:E151K;ENSP00000410374:E151K;ENSP00000441108:E151K;ENSP00000385750:E151K	ENSP00000354541:E151K	E	+	1	0	NLGN1	174805533	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	GAA		0.368	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
NLGN1	22871	broad.mit.edu	37	3	173993199	173993199	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:173993199C>A	ENST00000457714.1	+	5	1170	c.741C>A	c.(739-741)ttC>ttA	p.F247L	NLGN1_ENST00000401917.3_Missense_Mutation_p.F287L|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.F247L|NLGN1_ENST00000361589.4_Missense_Mutation_p.F247L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	264					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.F247L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACATTGGATTCTTTGGTGGTG	0.438																																					p.F247L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C741A	3						.						104.0	102.0	103.0					3																	173993199		2203	4300	6503	175475893	SO:0001583	missense	22871	exon5			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.741C>A	3.37:g.173993199C>A	ENSP00000392500:p.Phe247Leu		175475893	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832368	0.32421	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.34	5.34	0.76211	.	0.170721	0.53938	D	0.000042	T	0.55529	0.1926	L	0.28649	0.875	0.58432	D	0.999999	B;B	0.29671	0.254;0.219	B;B	0.29524	0.103;0.054	T	0.50634	-0.8805	10	0.11182	T	0.66	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	287;247	D2X2H5;Q8N2Q7-2	.;.	L	247;247;287;247;287	ENSP00000392500:F247L;ENSP00000354541:F247L;ENSP00000410374:F287L;ENSP00000441108:F247L;ENSP00000385750:F287L	ENSP00000354541:F247L	F	+	3	2	NLGN1	175475893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.838000	0.55828	2.937000	0.99478	0.650000	0.86243	TTC		0.438	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
NAALADL2	254827	broad.mit.edu	37	3	174814999	174814999	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:174814999C>T	ENST00000454872.1	+	2	591	c.463C>T	c.(463-465)Cca>Tca	p.P155S	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	155						integral component of membrane (GO:0016021)		p.P155S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGATGCTCCATCTTCAGG	0.358																																					p.P155S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C463T	3						.						99.0	100.0	100.0					3																	174814999		1838	4090	5928	176297693	SO:0001583	missense	254827	exon2				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.463C>T	3.37:g.174814999C>T	ENSP00000404705:p.Pro155Ser		176297693	NM_207015	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	2.989	-0.208511	0.06140	.	.	ENSG00000177694	ENST00000454872	T	0.32753	1.44	5.63	-4.36	0.03645	.	1.336820	0.04862	N	0.444289	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.0	T	0.18555	-1.0333	9	.	.	.	0.0115	1.2279	0.01937	0.3044:0.1937:0.3136:0.1882	.	138;155	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	S	155	ENSP00000404705:P155S	.	P	+	1	0	NAALADL2	176297693	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.829000	0.04415	-0.316000	0.08690	-0.485000	0.04761	CCA		0.358	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
NAALADL2	254827	broad.mit.edu	37	3	175520973	175520973	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:175520973C>A	ENST00000454872.1	+	14	2498	c.2370C>A	c.(2368-2370)gtC>gtA	p.V790V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	790						integral component of membrane (GO:0016021)		p.V790V(2)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAAGAGTGTCTTGGATGGGA	0.378																																					p.V790V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C2370A	3						.						97.0	91.0	93.0					3																	175520973		1825	4072	5897	177003667	SO:0001819	synonymous_variant	254827	exon14				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2370C>A	3.37:g.175520973C>A			177003667	NM_207015	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	CCDS46960.1																																																																																				0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	
ZMAT3	64393	broad.mit.edu	37	3	178742823	178742823	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:178742823C>A	ENST00000311417.2	-	6	1593	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ZMAT3_ENST00000432729.1_Missense_Mutation_p.E283D	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.E284D(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATCCCAGATTCTCCATCTCAT	0.433																																					p.E283D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G849T	3						.						211.0	190.0	197.0					3																	178742823		2203	4300	6503	180225517	SO:0001583	missense	64393	exon7			AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.852G>T	3.37:g.178742823C>A	ENSP00000311221:p.Glu284Asp		180225517	NM_152240		Missense_Mutation	SNP	ENST00000311417.2	37	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592714	0.66219	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.52754	0.66;0.65	5.46	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.47716	1.5	0.54753	D	0.999984	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.967	T	0.56631	-0.7947	10	0.49607	T	0.09	-41.0285	12.9851	0.58588	0.0:0.8029:0.0:0.1971	.	283;284	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	D	284;283	ENSP00000311221:E284D;ENSP00000396506:E283D	ENSP00000311221:E284D	E	-	3	2	ZMAT3	180225517	1.000000	0.71417	0.994000	0.49952	0.781000	0.44180	2.020000	0.41010	0.301000	0.22738	-0.813000	0.03139	GAG		0.433	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240	
MFN1	55669	broad.mit.edu	37	3	179069714	179069714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179069714C>T	ENST00000471841.1	+	3	265	c.139C>T	c.(139-141)Cga>Tga	p.R47*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.R47*|MFN1_ENST00000280653.7_Nonsense_Mutation_p.R47*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	47					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R47*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGAACTTGATCGAATAGCCAC	0.353																																					p.R47X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C139T	3						.						117.0	114.0	115.0					3																	179069714		2203	4300	6503	180552408	SO:0001587	stop_gained	55669	exon3			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.139C>T	3.37:g.179069714C>T	ENSP00000420617:p.Arg47*		180552408	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572896	0.65765	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	.	.	.	5.16	4.29	0.51040	.	0.210963	0.39909	N	0.001223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.0592	11.1144	0.48252	0.1446:0.7162:0.1392:0.0	.	.	.	.	X	47	.	ENSP00000263969:R47X	R	+	1	2	MFN1	180552408	0.000000	0.05858	1.000000	0.80357	0.151000	0.21798	0.441000	0.21611	1.308000	0.44962	-0.463000	0.05309	CGA		0.353	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
MFN1	55669	broad.mit.edu	37	3	179096378	179096378	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179096378T>G	ENST00000471841.1	+	14	1564	c.1438T>G	c.(1438-1440)Ttg>Gtg	p.L480V	MFN1_ENST00000263969.5_Missense_Mutation_p.L480V|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	480					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L480V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCTAGAAAATTTGAAGCCATT	0.323																																					p.L480V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1438G	3						.						33.0	31.0	32.0					3																	179096378		2203	4300	6503	180579072	SO:0001583	missense	55669	exon14			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1438T>G	3.37:g.179096378T>G	ENSP00000420617:p.Leu480Val		180579072	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179099	0.38511	.	.	ENSG00000171109	ENST00000471841;ENST00000263969	D;D	0.88354	-2.37;-2.37	5.16	4.01	0.46588	.	0.059984	0.64402	D	0.000001	T	0.81955	0.4932	L	0.54323	1.7	0.80722	D	1	B;B	0.15930	0.015;0.008	B;B	0.14578	0.011;0.011	T	0.72181	-0.4368	10	0.15952	T	0.53	-9.9245	4.2825	0.10839	0.0:0.3023:0.0:0.6977	.	508;480	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	V	480	ENSP00000420617:L480V;ENSP00000263969:L480V	ENSP00000263969:L480V	L	+	1	2	MFN1	180579072	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.953000	0.29162	1.948000	0.56530	0.482000	0.46254	TTG		0.323	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
MFN1	55669	broad.mit.edu	37	3	179103429	179103429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179103429G>T	ENST00000471841.1	+	15	1861	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.E579*|MFN1_ENST00000280653.7_Nonsense_Mutation_p.E468*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	579					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E579*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATCACAGGAAGAACTCATGAT	0.408																																					p.E579X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1735T	3						.						126.0	116.0	120.0					3																	179103429		2203	4300	6503	180586123	SO:0001587	stop_gained	55669	exon15			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1735G>T	3.37:g.179103429G>T	ENSP00000420617:p.Glu579*		180586123	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456449	0.63401	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	.	.	.	5.62	5.62	0.85841	.	0.139418	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-20.9802	19.6718	0.95914	0.0:0.0:1.0:0.0	.	.	.	.	X	579;468;579;331	.	ENSP00000263969:E579X	E	+	1	0	MFN1	180586123	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	9.395000	0.97266	2.639000	0.89480	0.557000	0.71058	GAA		0.408	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
ACTL6A	86	broad.mit.edu	37	3	179304340	179304340	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179304340C>T	ENST00000429709.2	+	13	1342	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W	ACTL6A_ENST00000392662.1_Missense_Mutation_p.R335W|RP11-145M9.6_ENST00000610007.1_RNA|RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R335W	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	377					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.R377W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGAGTATGCGGTTGAAATT	0.343																																					p.R335W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1003T	3						.						87.0	86.0	86.0					3																	179304340		2203	4300	6503	180787034	SO:0001583	missense	86	exon13			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1129C>T	3.37:g.179304340C>T	ENSP00000397552:p.Arg377Trp		180787034	NM_178042	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923001	0.73213	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95035	-3.59;-3.59;-3.59	5.91	4.96	0.65561	.	0.049963	0.85682	D	0.000000	D	0.97692	0.9243	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98202	1.0468	10	0.87932	D	0	.	15.8813	0.79207	0.2222:0.7778:0.0:0.0	.	377	O96019	ACL6A_HUMAN	W	377;335;335	ENSP00000397552:R377W;ENSP00000394014:R335W;ENSP00000376430:R335W	ENSP00000376430:R335W	R	+	1	2	ACTL6A	180787034	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.909000	0.48758	2.793000	0.96121	0.655000	0.94253	CGG		0.343	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301	
ACTL6A	86	broad.mit.edu	37	3	179305757	179305757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179305757G>T	ENST00000429709.2	+	14	1462	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E375*|ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E375*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	417					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.E417*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAAGAATATGAAGAAGGAGG	0.358																																					p.E375X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1123T	3						.						83.0	97.0	92.0					3																	179305757		2203	4300	6503	180788451	SO:0001587	stop_gained	86	exon14			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1249G>T	3.37:g.179305757G>T	ENSP00000397552:p.Glu417*		180788451	NM_178042	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonsense_Mutation	SNP	ENST00000429709.2	37	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	39	7.313032	0.98203	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	417;375;375	.	ENSP00000376430:E375X	E	+	1	0	ACTL6A	180788451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.838000	0.97847	0.655000	0.94253	GAA		0.358	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301	
MRPL47	57129	broad.mit.edu	37	3	179306713	179306713	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179306713G>T	ENST00000476781.1	-	7	729	c.700C>A	c.(700-702)Ctt>Att	p.L234I	MRPL47_ENST00000392659.2_Missense_Mutation_p.L124I|MRPL47_ENST00000259038.2_Missense_Mutation_p.L214I	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	234					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.L234I(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTTTTTAAAAGAATTTTTGCT	0.338																																					p.L124I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C370A	3						.						67.0	73.0	71.0					3																	179306713		2203	4299	6502	180789407	SO:0001583	missense	57129	exon6			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.700C>A	3.37:g.179306713G>T	ENSP00000417602:p.Leu234Ile		180789407	NM_177988	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255462	0.22965	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.61859	0.86;1.01;0.07	5.56	4.69	0.59074	.	0.000000	0.64402	D	0.000002	T	0.61590	0.2359	M	0.73217	2.22	0.21105	N	0.99979	P;P	0.50369	0.934;0.646	P;P	0.52217	0.693;0.497	T	0.56697	-0.7936	10	0.37606	T	0.19	-12.5997	5.4634	0.16630	0.2033:0.1597:0.637:0.0	.	214;234	Q9HD33-2;Q9HD33	.;RM47_HUMAN	I	234;214;124	ENSP00000417602:L234I;ENSP00000259038:L214I;ENSP00000376427:L124I	ENSP00000259038:L214I	L	-	1	0	MRPL47	180789407	1.000000	0.71417	0.331000	0.25455	0.094000	0.18550	2.131000	0.42074	1.490000	0.48466	0.591000	0.81541	CTT		0.338	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409	
USP13	8975	broad.mit.edu	37	3	179399742	179399742	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179399742G>A	ENST00000263966.3	+	2	716	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	USP13_ENST00000496897.1_Missense_Mutation_p.R17Q|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	82					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R82P(1)|p.R82Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGACATTTTCGAAAAACTGGA	0.413																																					p.R82Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G245A	3						.						160.0	159.0	159.0					3																	179399742		2203	4300	6503	180882436	SO:0001583	missense	8975	exon2			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.245G>A	3.37:g.179399742G>A	ENSP00000263966:p.Arg82Gln		180882436	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120133	0.56613	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.13657	2.57;2.59	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.08758	0.0217	N	0.20530	0.585	0.58432	D	0.999999	P;B	0.34462	0.454;0.044	B;B	0.20384	0.029;0.008	T	0.28618	-1.0038	10	0.11182	T	0.66	-9.5103	19.353	0.94398	0.0:0.0:1.0:0.0	.	82;82	Q92995;A8K2S3	UBP13_HUMAN;.	Q	82;17	ENSP00000263966:R82Q;ENSP00000417146:R17Q	ENSP00000263966:R82Q	R	+	2	0	USP13	180882436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.479000	0.81095	2.677000	0.91161	0.557000	0.71058	CGA		0.413	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
USP13	8975	broad.mit.edu	37	3	179426583	179426583	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179426583G>A	ENST00000263966.3	+	6	1114	c.643G>A	c.(643-645)Gac>Aac	p.D215N	USP13_ENST00000496897.1_Missense_Mutation_p.D150N|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	215					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D215N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGCCAGATGCGACCTGCGAGA	0.502																																					p.D215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	3						.						168.0	155.0	159.0					3																	179426583		2203	4300	6503	180909277	SO:0001583	missense	8975	exon6			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.643G>A	3.37:g.179426583G>A	ENSP00000263966:p.Asp215Asn		180909277	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	35	5.532044	0.96446	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.33216	1.42;1.42	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.046026	0.85682	D	0.000000	T	0.57975	0.2090	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.963	D;P	0.68353	0.957;0.748	T	0.58064	-0.7702	10	0.56958	D	0.05	-27.8724	19.8844	0.96908	0.0:0.0:1.0:0.0	.	215;215	Q92995;A8K2S3	UBP13_HUMAN;.	N	215;150	ENSP00000263966:D215N;ENSP00000417146:D150N	ENSP00000263966:D215N	D	+	1	0	USP13	180909277	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.382000	0.97209	2.684000	0.91462	0.650000	0.86243	GAC		0.502	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
USP13	8975	broad.mit.edu	37	3	179483558	179483558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179483558G>T	ENST00000263966.3	+	19	2806	c.2335G>T	c.(2335-2337)Gag>Tag	p.E779*	USP13_ENST00000496897.1_Nonsense_Mutation_p.E714*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	779	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E779*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTGTGATTGAGATGGAGAA	0.408																																					p.E779X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2335T	3						.						134.0	130.0	131.0					3																	179483558		2203	4300	6503	180966252	SO:0001587	stop_gained	8975	exon19			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2335G>T	3.37:g.179483558G>T	ENSP00000263966:p.Glu779*		180966252	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Nonsense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	44	11.238184	0.99535	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	.	.	.	5.61	5.61	0.85477	.	0.464342	0.24750	N	0.035911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-12.6269	19.6288	0.95691	0.0:0.0:1.0:0.0	.	.	.	.	X	779;714	.	ENSP00000263966:E779X	E	+	1	0	USP13	180966252	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.181000	0.71988	2.632000	0.89209	0.655000	0.94253	GAG		0.408	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
PEX5L	51555	broad.mit.edu	37	3	179525577	179525577	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:179525577C>T	ENST00000467460.1	-	14	1891	c.1561G>A	c.(1561-1563)Gga>Aga	p.G521R	PEX5L_ENST00000485199.1_Missense_Mutation_p.G486R|PEX5L_ENST00000468741.1_Missense_Mutation_p.G329R|PEX5L_ENST00000392649.3_Missense_Mutation_p.G413R|PEX5L_ENST00000465751.1_Missense_Mutation_p.G497R|PEX5L_ENST00000464614.1_Missense_Mutation_p.G413R|PEX5L_ENST00000472994.1_Missense_Mutation_p.G462R|PEX5L_ENST00000476138.1_Missense_Mutation_p.G478R|PEX5L_ENST00000263962.8_Missense_Mutation_p.G519R|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	521					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.G521R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGCGGTCTCCGTTCGCCAAG	0.517																																					p.G521R												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1561A	3						.						119.0	125.0	123.0					3																	179525577		2203	4300	6503	181008271	SO:0001583	missense	51555	exon14			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1561G>A	3.37:g.179525577C>T	ENSP00000419975:p.Gly521Arg		181008271	NM_016559	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413575	0.96072	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	N	0.20807	0.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.997;0.995;0.998	T	0.79369	-0.1832	10	0.87932	D	0	-26.2478	20.6525	0.99598	0.0:1.0:0.0:0.0	.	462;497;413;519;486;521	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	R	521;519;486;519;413;329;478;409;462;413;497	ENSP00000419975:G521R;ENSP00000263962:G519R;ENSP00000418440:G486R;ENSP00000376420:G413R;ENSP00000418665:G329R;ENSP00000420555:G478R;ENSP00000418054:G462R;ENSP00000417270:G413R;ENSP00000419348:G497R	ENSP00000263962:G519R	G	-	1	0	PEX5L	181008271	1.000000	0.71417	0.987000	0.45799	0.875000	0.50365	7.747000	0.85070	2.890000	0.99128	0.585000	0.79938	GGA		0.517	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
TTC14	151613	broad.mit.edu	37	3	180321035	180321035	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:180321035G>A	ENST00000296015.4	+	3	542	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Missense_Mutation_p.R137Q|TTC14_ENST00000382584.4_Missense_Mutation_p.R137Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	137	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.R137Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTCTATTCGGGAATTCGGT	0.373																																					p.R137Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G410A	3						.						248.0	231.0	237.0					3																	180321035		2203	4300	6503	181803729	SO:0001583	missense	151613	exon3			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.410G>A	3.37:g.180321035G>A	ENSP00000296015:p.Arg137Gln		181803729	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429375	0.96131	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.49432	0.78;0.81	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.46157	1.445	0.80722	D	1	P;D;D	0.89917	0.923;0.963;1.0	P;P;D	0.80764	0.479;0.518;0.994	T	0.63989	-0.6512	10	0.56958	D	0.05	-9.132	19.8449	0.96704	0.0:0.0:1.0:0.0	.	137;137;137	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	Q	137;137;137;137;37;37	ENSP00000296015:R137Q;ENSP00000372027:R137Q	ENSP00000296015:R137Q	R	+	2	0	TTC14	181803729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.213000	0.95133	2.680000	0.91292	0.655000	0.94253	CGG		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
TTC14	151613	broad.mit.edu	37	3	180321103	180321103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:180321103G>T	ENST00000296015.4	+	3	610	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Nonsense_Mutation_p.E160*|TTC14_ENST00000382584.4_Nonsense_Mutation_p.E160*	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	160	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.E160*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGCCCACTTAGAAATCACAGT	0.348																																					p.E160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G478T	3						.						143.0	134.0	137.0					3																	180321103		2203	4300	6503	181803797	SO:0001587	stop_gained	151613	exon3			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.478G>T	3.37:g.180321103G>T	ENSP00000296015:p.Glu160*		181803797	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322880	0.95708	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	.	.	.	5.71	5.71	0.89125	.	0.099265	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-25.0994	10.2697	0.43477	0.0715:0.1363:0.7922:0.0	.	.	.	.	X	160;160;160;160;60;60	.	ENSP00000296015:E160X	E	+	1	0	TTC14	181803797	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.200000	0.65158	2.680000	0.91292	0.655000	0.94253	GAA		0.348	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
CCDC39	339829	broad.mit.edu	37	3	180337121	180337121	+	Nonsense_Mutation	SNP	C	C	A	rs587778820		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:180337121C>A	ENST00000442201.2	-	16	2310	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*	CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	731					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.E731*(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTTGTTCTTCTAGTTGA	0.274																																					p.E731X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2191T	3						.						142.0	116.0	124.0					3																	180337121		1738	3990	5728	181819815	SO:0001587	stop_gained	339829	exon16			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2191G>T	3.37:g.180337121C>A	ENSP00000405708:p.Glu731*		181819815	NM_181426	B4E2H1	Nonsense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	39	7.355570	0.98231	.	.	ENSG00000145075	ENST00000442201	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.6714	0.68948	0.0:0.9285:0.0:0.0715	.	.	.	.	X	731	.	ENSP00000405708:E731X	E	-	1	0	CCDC39	181819815	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.879000	0.48522	2.577000	0.86979	0.655000	0.94253	GAA		0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
ATP11B	23200	broad.mit.edu	37	3	182553890	182553890	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182553890G>A	ENST00000323116.5	+	5	643	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	ATP11B_ENST00000493826.1_Missense_Mutation_p.R128Q|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	128					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R128Q(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TATGTTGTTCGAAGTGGTGGC	0.328																																					p.R128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	3						.						112.0	111.0	112.0					3																	182553890		2203	4300	6503	184036584	SO:0001583	missense	23200	exon5			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.383G>A	3.37:g.182553890G>A	ENSP00000321195:p.Arg128Gln		184036584	NM_014616	Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727780	0.69074	.	.	ENSG00000058063	ENST00000323116;ENST00000493826	D;D	0.93659	-3.26;-3.26	4.99	4.99	0.66335	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90259	0.6954	L	0.27053	0.805	0.80722	D	1	P;B	0.42973	0.796;0.422	B;P	0.44732	0.252;0.459	D	0.88579	0.3135	10	0.22109	T	0.4	.	18.6389	0.91387	0.0:0.0:1.0:0.0	.	128;128	Q9Y2G3;B4DKX1	AT11B_HUMAN;.	Q	128	ENSP00000321195:R128Q;ENSP00000419032:R128Q	ENSP00000321195:R128Q	R	+	2	0	ATP11B	184036584	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.594000	0.82698	2.452000	0.82932	0.491000	0.48974	CGA		0.328	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
SATB1	6304	broad.mit.edu	37	3	18438680	18438680	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:18438680C>A	ENST00000338745.6	-	6	2476	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	248	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368																																					p.D248Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742T	3						.						254.0	212.0	226.0					3																	18438680		2202	4300	6502	18413684	SO:0001583	missense	6304	exon6				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.742G>T	3.37:g.18438680C>A	ENSP00000341024:p.Asp248Tyr		18413684	NM_002971	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657745	0.67586	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.86956	-2.19;-2.19;-2.19	5.9	5.9	0.94986	.	0.144833	0.64402	D	0.000010	T	0.81187	0.4770	N	0.16478	0.41	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.15052	0.012;0.002	T	0.74788	-0.3546	10	0.59425	D	0.04	-5.7408	20.2787	0.98501	0.0:1.0:0.0:0.0	.	248;248	Q01826-2;Q01826	.;SATB1_HUMAN	Y	248	ENSP00000341024:D248Y;ENSP00000399708:D248Y;ENSP00000399518:D248Y	ENSP00000341024:D248Y	D	-	1	0	SATB1	18413684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.798000	0.96311	0.650000	0.86243	GAT		0.368	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	
ATP11B	23200	broad.mit.edu	37	3	182585195	182585195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182585195G>T	ENST00000323116.5	+	15	1911	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	551					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E551*(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAATTCTGAAGAAACTATGGA	0.294																																					p.E551X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1651T	3						.						149.0	150.0	150.0					3																	182585195		2203	4300	6503	184067889	SO:0001587	stop_gained	23200	exon15			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1651G>T	3.37:g.182585195G>T	ENSP00000321195:p.Glu551*		184067889	NM_014616	Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.485713|9.485713	0.99184|0.99184	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.248012|.	0.40144|.	N|.	0.001177|.	.|T	.|0.74191	.|0.3684	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72966	.|-0.4131	.|4	0.10902|.	T|.	0.67|.	.|.	17.7602|17.7602	0.88462|0.88462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	551|351	.|.	ENSP00000321195:E551X|.	E|K	+|+	1|3	0|2	ATP11B|ATP11B	184067889|184067889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.343000|7.343000	0.79319|0.79319	2.527000|2.527000	0.85204|0.85204	0.471000|0.471000	0.43371|0.43371	GAA|AAG		0.294	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
DCUN1D1	54165	broad.mit.edu	37	3	182683508	182683508	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182683508G>A	ENST00000292782.4	-	2	190	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	DCUN1D1_ENST00000469954.1_5'UTR	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	13	UBA-like.					ubiquitin ligase complex (GO:0000151)		p.R13C(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAAACTGACGAACTTTATCC	0.308																																					p.R13C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37T	3						.						105.0	108.0	107.0					3																	182683508		2203	4299	6502	184166202	SO:0001583	missense	54165	exon2			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.37C>T	3.37:g.182683508G>A	ENSP00000292782:p.Arg13Cys		184166202	NM_020640	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135752	0.94517	.	.	ENSG00000043093	ENST00000292782;ENST00000458486	.	.	.	5.84	5.84	0.93424	UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	D	0.85000	0.0899	9	0.72032	D	0.01	-6.3724	20.1294	0.97995	0.0:0.0:1.0:0.0	.	13	Q96GG9	DCNL1_HUMAN	C	13	.	ENSP00000292782:R13C	R	-	1	0	DCUN1D1	184166202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.758000	0.94735	0.591000	0.81541	CGT		0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
MCCC1	56922	broad.mit.edu	37	3	182759475	182759475	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182759475C>T	ENST00000265594.4	-	11	1293	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	MCCC1_ENST00000492597.1_Missense_Mutation_p.E274K|MCCC1_ENST00000539926.1_Missense_Mutation_p.E248K	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	383	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.E383K(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATTCTAGCTTCGAAGGCATGG	0.468																																					p.E383K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147A	3						.						155.0	152.0	153.0					3																	182759475		2203	4300	6503	184242169	SO:0001583	missense	56922	exon11			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1147G>A	3.37:g.182759475C>T	ENSP00000265594:p.Glu383Lys		184242169	NM_020166	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.306882	0.95629	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.45	5.45	0.79879	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	H	0.99800	4.79	0.80722	D	1	D;D;D	0.76494	0.999;0.99;0.999	D;P;D	0.69142	0.941;0.833;0.962	D	0.99081	1.0837	10	0.87932	D	0	.	19.2699	0.94004	0.0:1.0:0.0:0.0	.	336;274;383	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	K	383;274;233;248;336;336	ENSP00000265594:E383K;ENSP00000419898:E274K;ENSP00000441253:E248K;ENSP00000420433:E336K	ENSP00000265594:E383K	E	-	1	0	MCCC1	184242169	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.369000	0.79578	2.554000	0.86153	0.557000	0.71058	GAA		0.468	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
LAMP3	27074	broad.mit.edu	37	3	182871711	182871711	+	Missense_Mutation	SNP	G	G	A	rs115806403	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182871711G>A	ENST00000265598.3	-	2	773	c.518C>T	c.(517-519)tCg>tTg	p.S173L	LAMP3_ENST00000466939.1_Missense_Mutation_p.S149L	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	173	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.S173L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CAGTGCTATCGATAAAGTTGC	0.547													g|||	3	0.000599042	0.0	0.0	5008	,	,		19053	0.002		0.001	False		,,,				2504	0.0				p.S173L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C518T	3						.						347.0	344.0	345.0					3																	182871711		2203	4300	6503	184354405	SO:0001583	missense	27074	exon2			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.518C>T	3.37:g.182871711G>A	ENSP00000265598:p.Ser173Leu		184354405	NM_014398	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	g	11.25	1.581907	0.28180	.	.	ENSG00000078081	ENST00000265598;ENST00000466939;ENST00000476015	T;T;T	0.49139	1.45;1.45;0.79	5.62	2.22	0.28083	.	0.886440	0.09670	N	0.771297	T	0.31949	0.0813	L	0.51422	1.61	0.09310	N	1	P	0.45474	0.859	B	0.32465	0.146	T	0.16276	-1.0408	10	0.26408	T	0.33	-1.3541	4.1356	0.10169	0.2389:0.0:0.592:0.1691	.	173	Q9UQV4	LAMP3_HUMAN	L	173;149;173	ENSP00000265598:S173L;ENSP00000418912:S149L;ENSP00000419059:S173L	ENSP00000265598:S173L	S	-	2	0	LAMP3	184354405	0.110000	0.22057	0.000000	0.03702	0.001000	0.01503	0.882000	0.28186	0.447000	0.26695	0.655000	0.94253	TCG		0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
MCF2L2	23101	broad.mit.edu	37	3	182923938	182923938	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182923938C>T	ENST00000328913.3	-	24	3074	c.2777G>A	c.(2776-2778)cGa>cAa	p.R926Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R926Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	926	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R926Q(2)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGTCCATTTCGACTGGCAAT	0.438																																					p.R926Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2777A	3						.						202.0	172.0	182.0					3																	182923938		2203	4300	6503	184406632	SO:0001583	missense	23101	exon24			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2777G>A	3.37:g.182923938C>T	ENSP00000328118:p.Arg926Gln		184406632	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	3.836	-0.034732	0.07543	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.43294	0.95;0.95	4.27	-7.16	0.01516	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	1.071290	0.07398	N	0.890319	T	0.18635	0.0447	N	0.05280	-0.08	0.09310	N	0.999999	B	0.14438	0.01	B	0.04013	0.001	T	0.34304	-0.9834	10	0.18276	T	0.48	.	12.7209	0.57142	0.0:0.1476:0.0:0.8524	.	926	Q86YR7	MF2L2_HUMAN	Q	926	ENSP00000328118:R926Q;ENSP00000420070:R926Q	ENSP00000328118:R926Q	R	-	2	0	MCF2L2	184406632	0.034000	0.19679	0.023000	0.16930	0.128000	0.20619	-1.509000	0.02264	-1.428000	0.01989	-1.375000	0.01183	CGA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	182933871	182933871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:182933871C>A	ENST00000328913.3	-	22	2679	c.2382G>T	c.(2380-2382)aaG>aaT	p.K794N	MCF2L2_ENST00000473233.1_Missense_Mutation_p.K794N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	794	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K794N(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTTGGTTCTCTTTGGCCCAT	0.448																																					p.K794N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2382T	3						.						233.0	207.0	216.0					3																	182933871		2203	4300	6503	184416565	SO:0001583	missense	23101	exon22			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2382G>T	3.37:g.182933871C>A	ENSP00000328118:p.Lys794Asn		184416565	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362887	0.41902	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01918	4.56;4.56	4.29	3.41	0.39046	Dbl homology (DH) domain (4);	0.059711	0.64402	D	0.000004	T	0.02119	0.0066	N	0.22421	0.69	0.80722	D	1	P	0.44877	0.845	B	0.41860	0.368	T	0.62393	-0.6864	10	0.72032	D	0.01	.	7.9968	0.30273	0.0:0.8878:0.0:0.1122	.	794	Q86YR7	MF2L2_HUMAN	N	794	ENSP00000328118:K794N;ENSP00000420070:K794N	ENSP00000328118:K794N	K	-	3	2	MCF2L2	184416565	1.000000	0.71417	0.912000	0.35992	0.666000	0.39218	1.175000	0.31944	1.171000	0.42768	0.655000	0.94253	AAG		0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	183056614	183056614	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183056614G>T	ENST00000328913.3	-	5	757	c.460C>A	c.(460-462)Cga>Aga	p.R154R	MCF2L2_ENST00000473233.1_Silent_p.R154R|MCF2L2_ENST00000447025.2_Silent_p.R154R|MCF2L2_ENST00000414362.2_Silent_p.R154R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	154	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R154*(2)|p.R154R(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AACTCATTTCGATAGTATTTA	0.438																																					p.R154R												.	.	3	Substitution - Nonsense(2)|Substitution - coding silent(1)	large_intestine(3)	c.C460A	3						.						120.0	109.0	112.0					3																	183056614		2203	4300	6503	184539308	SO:0001819	synonymous_variant	23101	exon5			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.460C>A	3.37:g.183056614G>T			184539308	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	CCDS3243.1																																																																																				0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
YEATS2	55689	broad.mit.edu	37	3	183439726	183439726	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183439726G>T	ENST00000305135.5	+	5	534	c.339G>T	c.(337-339)aaG>aaT	p.K113N		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	113					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.K113N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGCTATCAAGAAATTTTTGG	0.348																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	3						.						137.0	130.0	132.0					3																	183439726		1899	4126	6025	184922420	SO:0001583	missense	55689	exon5			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.339G>T	3.37:g.183439726G>T	ENSP00000306983:p.Lys113Asn		184922420	NM_018023	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254957	0.80135	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.54675	0.56	5.58	5.58	0.84498	.	0.063178	0.64402	D	0.000008	T	0.67505	0.2900	M	0.72118	2.19	0.51767	D	0.999932	D	0.65815	0.995	P	0.55615	0.78	T	0.70952	-0.4732	10	0.72032	D	0.01	-18.7269	17.7345	0.88388	0.0:0.0:1.0:0.0	.	113	Q9ULM3	YETS2_HUMAN	N	113	ENSP00000306983:K113N	ENSP00000306983:K113N	K	+	3	2	YEATS2	184922420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.029000	0.64121	2.631000	0.89168	0.591000	0.81541	AAG		0.348	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
PARL	55486	broad.mit.edu	37	3	183584427	183584427	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183584427C>A	ENST00000317096.4	-	3	508	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	PARL_ENST00000435888.1_Missense_Mutation_p.D150Y|PARL_ENST00000311101.5_Missense_Mutation_p.D150Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	150					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.D150Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTCTGAAGTCTCCTTCTTTT	0.353																																					p.D150Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448T	3						.						136.0	131.0	132.0					3																	183584427		2203	4300	6503	185067121	SO:0001583	missense	55486	exon3			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.448G>T	3.37:g.183584427C>A	ENSP00000325421:p.Asp150Tyr		185067121	NM_001037639	Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383533	0.61845	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.76968	-1.06;-1.06;-1.06	5.34	3.5	0.40072	.	0.153774	0.56097	D	0.000024	T	0.76955	0.4060	L	0.42245	1.32	0.42178	D	0.99167	P;P	0.48503	0.911;0.667	P;B	0.53102	0.718;0.285	T	0.77148	-0.2694	10	0.56958	D	0.05	-7.0016	9.1048	0.36692	0.0:0.7522:0.0:0.2478	.	150;150	Q9H300-2;Q9H300	.;PARL_HUMAN	Y	150	ENSP00000325421:D150Y;ENSP00000310676:D150Y;ENSP00000402137:D150Y	ENSP00000310676:D150Y	D	-	1	0	PARL	185067121	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.125000	0.42016	1.202000	0.43218	0.563000	0.77884	GAC		0.353	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622	
ABCC5	10057	broad.mit.edu	37	3	183705647	183705647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183705647G>A	ENST00000334444.6	-	5	742	c.502C>T	c.(502-504)Cga>Tga	p.R168*	ABCC5_ENST00000427120.2_Nonsense_Mutation_p.R168*|ABCC5_ENST00000265586.6_Nonsense_Mutation_p.R168*|ABCC5_ENST00000382494.2_Nonsense_Mutation_p.R168*|ABCC5_ENST00000392579.2_Nonsense_Mutation_p.R168*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	168					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R168G(2)|p.R168*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACAACCCTTCGCAGGGAAGCA	0.552																																					p.R168X												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|large_intestine(1)	c.C502T	3						.						227.0	172.0	191.0					3																	183705647		2203	4300	6503	185188341	SO:0001587	stop_gained	10057	exon5			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.502C>T	3.37:g.183705647G>A	ENSP00000333926:p.Arg168*		185188341	NM_001023587	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261369	0.80246	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494	.	.	.	5.99	5.1	0.69264	.	0.087739	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-8.4041	12.7224	0.57149	0.0:0.1259:0.7432:0.1309	.	.	.	.	X	168;104;168;168;168;168	.	ENSP00000265586:R168X	R	-	1	2	ABCC5	185188341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.687000	0.54692	1.497000	0.48584	0.643000	0.83706	CGA		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
DVL3	1857	broad.mit.edu	37	3	183882687	183882687	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183882687C>A	ENST00000313143.3	+	5	815	c.567C>A	c.(565-567)ttC>ttA	p.F189L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.F189L|DVL3_ENST00000462665.1_3'UTR	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	189					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)	p.F189L(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCACCAGCTTCTTTGACTCAG	0.572																																					p.F189L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C567A	3						.						71.0	72.0	72.0					3																	183882687		2203	4300	6503	185365381	SO:0001583	missense	1857	exon5			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.567C>A	3.37:g.183882687C>A	ENSP00000316054:p.Phe189Leu		185365381	NM_004423	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784429	0.49997	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.06294	3.76;3.78;3.32	5.18	5.18	0.71444	Dishevelled protein domain (1);	0.048194	0.85682	D	0.000000	T	0.10637	0.0260	L	0.50333	1.59	0.58432	D	0.999999	B;B	0.29481	0.245;0.245	B;B	0.35182	0.197;0.197	T	0.20974	-1.0259	10	0.23891	T	0.37	-19.2035	19.0742	0.93154	0.0:1.0:0.0:0.0	.	189;189	B4E3E5;Q92997	.;DVL3_HUMAN	L	189;189;189;87	ENSP00000316054:F189L;ENSP00000405885:F189L;ENSP00000393849:F87L	ENSP00000316054:F189L	F	+	3	2	DVL3	185365381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.085000	0.50151	2.582000	0.87167	0.655000	0.94253	TTC		0.572	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
ECE2	9718	broad.mit.edu	37	3	183975429	183975429	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:183975429C>T	ENST00000402825.3	+	2	365	c.365C>T	c.(364-366)gCt>gTt	p.A122V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.A122V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	122	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.A122V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCCCAGTGCTTCTTTTGAT	0.612																																					p.A122V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C365T	3						.						65.0	63.0	64.0					3																	183975429		2203	4300	6503	185458123	SO:0001583	missense	9718	exon2			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.365C>T	3.37:g.183975429C>T	ENSP00000384223:p.Ala122Val		185458123	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600584	0.46423	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.64260	-0.09;-0.09	5.88	1.95	0.26073	Methyltransferase type 11 (1);	.	.	.	.	T	0.65729	0.2719	M	0.76328	2.33	0.80722	D	1	B;B	0.25272	0.093;0.122	B;B	0.27076	0.057;0.076	T	0.65047	-0.6263	9	0.48119	T	0.1	-5.0349	19.7803	0.96413	0.0:0.6375:0.3625:0.0	.	122;122	O60344;O60344-4	ECE2_HUMAN;.	V	122	ENSP00000314295:A122V;ENSP00000384223:A122V	ENSP00000314295:A122V	A	+	2	0	ECE2	185458123	0.010000	0.17322	0.851000	0.33527	0.610000	0.37248	0.243000	0.18106	0.061000	0.16311	-0.165000	0.13383	GCT		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
PSMD2	5708	broad.mit.edu	37	3	184019414	184019414	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184019414G>T	ENST00000310118.4	+	4	1005	c.447G>T	c.(445-447)gaG>gaT	p.E149D	PSMD2_ENST00000439383.1_Missense_Mutation_p.E19D|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000435761.1_5'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	149					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.E149D(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)	GCTCCCAGGAGGAATTGGCAT	0.483																																					p.E149D	Colon(24;313 636 6917 9932 15554)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	3						.						108.0	105.0	106.0					3																	184019414		2203	4300	6503	185502108	SO:0001583	missense	5708	exon4			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.447G>T	3.37:g.184019414G>T	ENSP00000310129:p.Glu149Asp		185502108	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225070	0.58668	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000439383	T;T;T	0.42900	2.06;2.06;0.96	4.48	2.29	0.28610	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	N	0.25380	0.74	0.50813	D	0.999895	P	0.52842	0.956	P	0.62184	0.899	T	0.10200	-1.0640	10	0.22109	T	0.4	-19.779	8.542	0.33399	0.2205:0.0:0.7795:0.0	.	149	Q13200	PSMD2_HUMAN	D	149;149;141;19	ENSP00000310129:E149D;ENSP00000414061:E149D;ENSP00000416028:E19D	ENSP00000310129:E149D	E	+	3	2	PSMD2	185502108	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.945000	0.29056	0.313000	0.23062	0.557000	0.71058	GAG		0.483	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
EIF4G1	1981	broad.mit.edu	37	3	184035243	184035243	+	Silent	SNP	C	C	A	rs367604626		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184035243C>A	ENST00000346169.2	+	5	553	c.282C>A	c.(280-282)atC>atA	p.I94I	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.I7I|EIF4G1_ENST00000424196.1_Silent_p.I101I|EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000414031.1_Silent_p.I54I|EIF4G1_ENST00000411531.1_Silent_p.I54I|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000352767.3_Silent_p.I101I|EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000427845.1_Silent_p.I7I|EIF4G1_ENST00000319274.6_Silent_p.I94I|EIF4G1_ENST00000342981.4_Silent_p.I94I|EIF4G1_ENST00000382330.3_Silent_p.I101I	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	94					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.I94I(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTCCCAGATCTCCTACCCAG	0.617																																					p.I94I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	3						.						59.0	64.0	63.0					3																	184035243		2203	4300	6503	185517937	SO:0001819	synonymous_variant	1981	exon4			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.282C>A	3.37:g.184035243C>A			185517937	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EIF4G1	1981	broad.mit.edu	37	3	184039575	184039575	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184039575G>T	ENST00000346169.2	+	10	1474	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E314D|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E205D|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E408D|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E205D|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E361D|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E361D|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E237D|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E408D|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E237D|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E314D|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E401D|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E401D|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E408D	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	401					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E401D(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAACCTGAGGAACTGCTCA	0.617																																					p.E401D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1203T	3						.						184.0	198.0	193.0					3																	184039575		2203	4300	6503	185522269	SO:0001583	missense	1981	exon9			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1203G>T	3.37:g.184039575G>T	ENSP00000316879:p.Glu401Asp		185522269	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087506	0.55968	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38560	3.84;3.8;3.76;2.72;2.73;3.82;2.88;3.59;3.82;3.76;3.82;3.84;3.82;3.81;2.23;3.58;3.54;1.13;3.54	5.57	3.77	0.43336	.	0.463933	0.22976	N	0.053361	T	0.47377	0.1442	L	0.40543	1.245	0.37769	D	0.926596	P;B;P;B	0.52842	0.956;0.147;0.956;0.243	D;B;D;B	0.65010	0.931;0.055;0.931;0.079	T	0.46652	-0.9176	10	0.35671	T	0.21	-21.5665	6.0155	0.19601	0.161:0.0:0.6883:0.1508	.	408;401;401;408	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	D	401;361;314;401;408;408;342;237;408;314;401;401;408;361;237;237;205;205;205	ENSP00000316879:E401D;ENSP00000391935:E361D;ENSP00000376320:E314D;ENSP00000391412:E401D;ENSP00000413159:E408D;ENSP00000371767:E408D;ENSP00000403269:E342D;ENSP00000317600:E237D;ENSP00000338020:E408D;ENSP00000407682:E314D;ENSP00000343450:E401D;ENSP00000323737:E401D;ENSP00000416255:E408D;ENSP00000395974:E361D;ENSP00000398145:E237D;ENSP00000399858:E237D;ENSP00000411826:E205D;ENSP00000399969:E205D;ENSP00000404754:E205D	ENSP00000323737:E401D	E	+	3	2	EIF4G1	185522269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.667000	0.46808	0.816000	0.34421	0.563000	0.77884	GAG		0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
THPO	7066	broad.mit.edu	37	3	184090322	184090322	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184090322C>A	ENST00000204615.7	-	6	1255	c.1041G>T	c.(1039-1041)caG>caT	p.Q347H	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.Q343H|THPO_ENST00000421442.2_3'UTR|THPO_ENST00000477594.1_5'Flank	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	347					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.Q347H(1)		NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGACAGATTCTGGGAGTGGG	0.597																																					p.Q343H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1029T	3						.						109.0	108.0	109.0					3																	184090322		2203	4300	6503	185573016	SO:0001583	missense	7066	exon6				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.1041G>T	3.37:g.184090322C>A	ENSP00000204615:p.Gln347His		185573016	NM_001177597	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400414	0.62177	.	.	ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488	T;T	0.32272	1.46;1.46	4.7	2.88	0.33553	Four-helical cytokine, core (1);	0.584812	0.14713	N	0.302806	T	0.19366	0.0465	N	0.24115	0.695	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.10450	0.005;0.002	T	0.05818	-1.0862	10	0.87932	D	0	-23.1283	5.844	0.18652	0.1877:0.7137:0.0:0.0986	.	343;347	P40225-2;P40225	.;TPO_HUMAN	H	347;343;308	ENSP00000204615:Q347H;ENSP00000410763:Q343H	ENSP00000204615:Q347H	Q	-	3	2	THPO	185573016	0.407000	0.25352	0.929000	0.37066	0.773000	0.43773	0.502000	0.22594	0.558000	0.29135	0.467000	0.42956	CAG		0.597	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460	
VPS8	23355	broad.mit.edu	37	3	184557523	184557523	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184557523G>T	ENST00000437079.3	+	7	689	c.518G>T	c.(517-519)gGa>gTa	p.G173V	VPS8_ENST00000446204.2_Missense_Mutation_p.G173V|VPS8_ENST00000287546.4_Missense_Mutation_p.G173V|VPS8_ENST00000436792.2_Missense_Mutation_p.G173V|VPS8_ENST00000424463.2_3'UTR	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	173							zinc ion binding (GO:0008270)	p.G173V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACATCTCATGGATTGGCTTTA	0.313																																					p.G173V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518T	3						.						143.0	129.0	134.0					3																	184557523		1835	4086	5921	186040217	SO:0001583	missense	23355	exon7			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.518G>T	3.37:g.184557523G>T	ENSP00000397879:p.Gly173Val		186040217	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739509	0.89573	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;2.18	5.82	5.82	0.92795	.	0.049996	0.85682	D	0.000000	D	0.86264	0.5891	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86814	0.2000	10	0.87932	D	0	-26.6314	18.8801	0.92352	0.0:0.0:1.0:0.0	.	173;173	Q8N3P4-2;Q8N3P4-3	.;.	V	173	ENSP00000287546:G173V;ENSP00000397879:G173V;ENSP00000404704:G173V;ENSP00000405483:G173V;ENSP00000415161:G173V	ENSP00000287546:G173V	G	+	2	0	VPS8	186040217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.815000	0.91973	2.756000	0.94617	0.563000	0.77884	GGA		0.313	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
C3orf70	285382	broad.mit.edu	37	3	184800809	184800809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184800809C>A	ENST00000335012.2	-	2	929	c.739G>T	c.(739-741)Gaa>Taa	p.E247*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	247								p.E247*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGTCGTTTCTATCGTTTCA	0.522																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	3						.						121.0	125.0	124.0					3																	184800809		2203	4300	6503	186283503	SO:0001587	stop_gained	285382	exon2				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.739G>T	3.37:g.184800809C>A	ENSP00000334974:p.Glu247*		186283503	NM_001025266	B2RNY2|B9EH83	Nonsense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	C	38	6.828121	0.97869	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.51012	D	0.999901	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0492	0.97617	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000334974:E247X	E	-	1	0	C3orf70	186283503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.836000	0.97738	0.655000	0.94253	GAA		0.522	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266	
C3orf70	285382	broad.mit.edu	37	3	184800984	184800984	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:184800984C>A	ENST00000335012.2	-	2	754	c.564G>T	c.(562-564)gaG>gaT	p.E188D		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	188								p.E188D(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TCCCAGAGTCCTCAGAACTTG	0.473																																					p.E188D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G564T	3						.						113.0	108.0	110.0					3																	184800984		2203	4300	6503	186283678	SO:0001583	missense	285382	exon2				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.564G>T	3.37:g.184800984C>A	ENSP00000334974:p.Glu188Asp		186283678	NM_001025266	B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737304	0.89482	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	L	0.27053	0.805	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.71013	-0.4715	9	0.87932	D	0	.	18.7247	0.91710	0.0:1.0:0.0:0.0	.	188	A6NLC5	CC070_HUMAN	D	188	.	ENSP00000334974:E188D	E	-	3	2	C3orf70	186283678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.416000	0.44644	2.534000	0.85438	0.655000	0.94253	GAG		0.473	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266	
LIPH	200879	broad.mit.edu	37	3	185229345	185229345	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:185229345C>T	ENST00000296252.4	-	9	1376	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	LIPH_ENST00000424591.2_Missense_Mutation_p.R378Q	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	412					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.R412Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TAACTTCATTCGGAGAATCCT	0.458																																					p.R412Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A	3						.						113.0	108.0	110.0					3																	185229345		2203	4300	6503	186712039	SO:0001583	missense	200879	exon9			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1235G>A	3.37:g.185229345C>T	ENSP00000296252:p.Arg412Gln		186712039	NM_139248	A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224776	0.39300	.	.	ENSG00000163898	ENST00000296252;ENST00000424591;ENST00000435679	D;D	0.88741	-2.42;-2.22	5.4	3.61	0.41365	.	0.478390	0.22028	N	0.065628	T	0.78110	0.4232	L	0.31120	0.905	0.32883	D	0.51079	B;B	0.31859	0.032;0.343	B;B	0.21546	0.008;0.035	T	0.74290	-0.3713	10	0.15066	T	0.55	-7.4006	9.051	0.36376	0.0:0.7573:0.0:0.2427	.	378;412	A2IBA6;Q8WWY8	.;LIPH_HUMAN	Q	412;378;56	ENSP00000296252:R412Q;ENSP00000396384:R378Q	ENSP00000296252:R412Q	R	-	2	0	LIPH	186712039	0.937000	0.31787	0.866000	0.34008	0.676000	0.39594	1.367000	0.34204	0.763000	0.33175	0.563000	0.77884	CGA		0.458	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
SENP2	59343	broad.mit.edu	37	3	185332452	185332452	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:185332452T>A	ENST00000296257.5	+	11	1274	c.1034T>A	c.(1033-1035)aTa>aAa	p.I345K	SENP2_ENST00000545472.1_Missense_Mutation_p.I335K|SENP2_ENST00000427465.2_Missense_Mutation_p.I169K	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	345					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.I345K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAAGTGTCAATAATTGAGACA	0.478																																					p.I345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1034A	3						.						103.0	100.0	101.0					3																	185332452		2203	4300	6503	186815146	SO:0001583	missense	59343	exon11			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1034T>A	3.37:g.185332452T>A	ENSP00000296257:p.Ile345Lys		186815146	NM_021627	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	ENST00000296257.5	37	CCDS33902.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.376818	0.42105	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	T;T;T;T	0.33438	1.86;1.87;1.9;1.41	5.37	1.42	0.22433	.	0.630104	0.15513	N	0.258430	T	0.12603	0.0306	N	0.14661	0.345	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.19148	0.024;0.024	T	0.32241	-0.9914	10	0.06365	T	0.9	-9.1113	5.868	0.18786	0.0:0.157:0.1397:0.7032	.	335;345	B4DQ42;Q9HC62	.;SENP2_HUMAN	K	335;345;216;169;52	ENSP00000439653:I335K;ENSP00000296257:I345K;ENSP00000394562:I169K;ENSP00000399201:I52K	ENSP00000296257:I345K	I	+	2	0	SENP2	186815146	0.001000	0.12720	0.888000	0.34837	0.928000	0.56348	0.345000	0.19979	0.460000	0.27045	-0.269000	0.10298	ATA		0.478	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345159.1	NM_021627	
TRA2B	6434	broad.mit.edu	37	3	185643391	185643391	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:185643391C>T	ENST00000453386.2	-	3	469	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	65	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R65Q(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAATGCCTTCGGGAGCTTCT	0.463																																					p.R65Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G194A	3						.						99.0	96.0	97.0					3																	185643391		2203	4300	6503	187126085	SO:0001583	missense	6434	exon3			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.194G>A	3.37:g.185643391C>T	ENSP00000416959:p.Arg65Gln		187126085	NM_004593	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014712	0.93404	.	.	ENSG00000136527	ENST00000453386	T	0.24350	1.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	L	0.59436	1.845	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.61201	0.885;0.885	T	0.03576	-1.1023	10	0.14656	T	0.56	-3.3171	19.6509	0.95805	0.0:1.0:0.0:0.0	.	65;65	B2RDQ3;P62995	.;TRA2B_HUMAN	Q	65	ENSP00000416959:R65Q	ENSP00000416959:R65Q	R	-	2	0	TRA2B	187126085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.048000	0.71046	2.941000	0.99782	0.655000	0.94253	CGA		0.463	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	
DGKG	1608	broad.mit.edu	37	3	186015890	186015890	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186015890C>T	ENST00000265022.3	-	4	812	c.273G>A	c.(271-273)ccG>ccA	p.P91P	DGKG_ENST00000544847.1_Silent_p.P91P|DGKG_ENST00000344484.4_Silent_p.P91P|DGKG_ENST00000382164.4_Silent_p.P91P	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	91					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.P91P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTCCCTCCGTCGGGTGGTCAG	0.617																																					p.P91P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G273A	3						.						109.0	105.0	106.0					3																	186015890		2203	4300	6503	187498584	SO:0001819	synonymous_variant	1608	exon4			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.273G>A	3.37:g.186015890C>T			187498584	NM_001080744	B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	CCDS3274.1																																																																																				0.617	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3		
CRYGS	1427	broad.mit.edu	37	3	186257212	186257212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186257212C>A	ENST00000392499.2	-	3	535	c.196G>T	c.(196-198)Gag>Tag	p.E66*	CRYGS_ENST00000307944.5_Nonsense_Mutation_p.E66*	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	66	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)	p.E66*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TCAGGGTACTCTCCCTGTGGT	0.522																																					p.E66X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G196T	3						.						117.0	92.0	100.0					3																	186257212		2203	4300	6503	187739906	SO:0001587	stop_gained	1427	exon2				CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.196G>T	3.37:g.186257212C>A	ENSP00000376287:p.Glu66*		187739906	NM_017541	B2RAF8	Nonsense_Mutation	SNP	ENST00000392499.2	37	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	C	37	6.405208	0.97542	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000312099:E66X	E	-	1	0	CRYGS	187739906	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.059000	0.71133	2.941000	0.99782	0.655000	0.94253	GAG		0.522	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541	
TBCCD1	55171	broad.mit.edu	37	3	186281890	186281890	+	Missense_Mutation	SNP	C	C	T	rs374199520		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186281890C>T	ENST00000424280.1	-	2	708	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TBCCD1_ENST00000446782.1_Intron|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E77K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	77					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.E77K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCAAATATTTCGAAGTAAAGC	0.522																																					p.E77K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	3						.	C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	68.0	67.0	67.0		229,229	5.7	1.0	3		67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TBCCD1	NM_001134415.1,NM_018138.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	77/558,77/558	186281890	1,13005	2203	4300	6503	187764584	SO:0001583	missense	55171	exon2			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.229G>A	3.37:g.186281890C>T	ENSP00000411253:p.Glu77Lys		187764584	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936340	0.92458	0.0	1.16E-4	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000413695;ENST00000430560	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.64279	-0.6445	10	0.72032	D	0.01	-14.0937	17.2023	0.86909	0.0:1.0:0.0:0.0	.	77	Q9NVR7	TBCC1_HUMAN	K	77	ENSP00000411253:E77K;ENSP00000341652:E77K;ENSP00000391109:E77K;ENSP00000407506:E77K	ENSP00000341652:E77K	E	-	1	0	TBCCD1	187764584	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.336000	0.79245	2.663000	0.90544	0.561000	0.74099	GAA		0.522	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
FETUB	26998	broad.mit.edu	37	3	186362658	186362658	+	Missense_Mutation	SNP	G	G	T	rs148507156	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186362658G>T	ENST00000265029.3	+	4	644	c.543G>T	c.(541-543)gaG>gaT	p.E181D	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.E144D|FETUB_ENST00000450521.1_Missense_Mutation_p.E181D|FETUB_ENST00000539949.1_Missense_Mutation_p.E33D|FETUB_ENST00000382134.3_Missense_Mutation_p.E116D	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	181	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.E181D(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACAACAATGAGAACACATCCA	0.498																																					p.E181D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	3						.						108.0	104.0	106.0					3																	186362658		2203	4300	6503	187845352	SO:0001583	missense	26998	exon4			AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.543G>T	3.37:g.186362658G>T	ENSP00000265029:p.Glu181Asp		187845352	NM_014375	B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245826	0.22796	.	.	ENSG00000090512	ENST00000450521;ENST00000431018;ENST00000539949;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.29	1.43	0.22495	Proteinase inhibitor I25, cystatin (2);	0.178918	0.39615	N	0.001315	T	0.25865	0.0630	L	0.58583	1.82	0.09310	N	1	B;B;B	0.33807	0.071;0.426;0.148	B;B;B	0.34093	0.091;0.175;0.076	T	0.18116	-1.0347	10	0.72032	D	0.01	-4.4298	5.5611	0.17144	0.2381:0.1408:0.6211:0.0	.	144;116;181	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	D	181;33;33;181;116;144	ENSP00000404288:E181D;ENSP00000396581:E33D;ENSP00000443704:E33D;ENSP00000265029:E181D;ENSP00000371569:E116D;ENSP00000371571:E144D	ENSP00000265029:E181D	E	+	3	2	FETUB	187845352	0.004000	0.15560	0.002000	0.10522	0.224000	0.24922	0.081000	0.14823	0.044000	0.15775	-0.137000	0.14449	GAG		0.498	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	
HRG	3273	broad.mit.edu	37	3	186395005	186395005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186395005G>T	ENST00000232003.4	+	7	991	c.911G>T	c.(910-912)aGa>aTa	p.R304I		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	304	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R304I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCAGATGAAAGAGATCACTCA	0.532																																					p.R304I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911T	3						.						212.0	174.0	187.0					3																	186395005		2203	4300	6503	187877699	SO:0001583	missense	3273	exon7				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.911G>T	3.37:g.186395005G>T	ENSP00000232003:p.Arg304Ile		187877699	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	9.901	1.206941	0.22205	.	.	ENSG00000113905	ENST00000232003	T	0.11821	2.74	3.43	-0.671	0.11381	.	0.255049	0.27986	N	0.017050	T	0.05135	0.0137	N	0.14661	0.345	0.09310	N	1	B	0.29432	0.244	B	0.23574	0.047	T	0.32428	-0.9907	10	0.25106	T	0.35	-3.4131	3.0508	0.06168	0.5125:0.2278:0.2597:0.0	.	304	P04196	HRG_HUMAN	I	304	ENSP00000232003:R304I	ENSP00000232003:R304I	R	+	2	0	HRG	187877699	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.824000	0.27379	0.082000	0.17018	-0.474000	0.04947	AGA		0.532	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
KNG1	3827	broad.mit.edu	37	3	186460082	186460082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186460082G>T	ENST00000265023.4	+	10	2109	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	633					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E633*(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ACAAATGAAAGAATCTTATTA	0.368																																					p.E633X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1897T	3						.						100.0	96.0	97.0					3																	186460082		1824	4082	5906	187942776	SO:0001587	stop_gained	3827	exon10				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1897G>T	3.37:g.186460082G>T	ENSP00000265023:p.Glu633*		187942776	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Nonsense_Mutation	SNP	ENST00000265023.4	37	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	37	6.155952	0.97334	.	.	ENSG00000113889	ENST00000265023	.	.	.	5.28	3.34	0.38264	.	0.310671	0.23926	N	0.043181	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1728	6.5644	0.22503	0.0996:0.2298:0.6706:0.0	.	.	.	.	X	633	.	.	E	+	1	0	KNG1	187942776	0.011000	0.17503	0.292000	0.24919	0.017000	0.09413	0.620000	0.24403	1.378000	0.46305	0.563000	0.77884	GAA		0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
RTP1	132112	broad.mit.edu	37	3	186915433	186915433	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186915433G>T	ENST00000312295.4	+	1	160	c.130G>T	c.(130-132)Gat>Tat	p.D44Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	44					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.D44Y(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGACCACAGATGAGTGGAA	0.527																																					p.D44Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G130T	3						.						141.0	129.0	133.0					3																	186915433		2203	4300	6503	188398127	SO:0001583	missense	132112	exon1			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.130G>T	3.37:g.186915433G>T	ENSP00000311712:p.Asp44Tyr		188398127	NM_153708		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085565	0.36758	.	.	ENSG00000175077	ENST00000312295	T	0.14766	2.48	5.69	5.69	0.88448	.	0.795910	0.12160	N	0.494091	T	0.08980	0.0222	N	0.08118	0	0.19775	N	0.999957	B	0.32425	0.371	B	0.27170	0.077	T	0.29882	-0.9997	10	0.59425	D	0.04	.	15.3155	0.74074	0.0:0.0:1.0:0.0	.	44	P59025	RTP1_HUMAN	Y	44	ENSP00000311712:D44Y	ENSP00000311712:D44Y	D	+	1	0	RTP1	188398127	0.938000	0.31826	0.927000	0.36925	0.550000	0.35303	3.481000	0.53179	2.699000	0.92147	0.655000	0.94253	GAT		0.527	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
MASP1	5648	broad.mit.edu	37	3	186943256	186943256	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:186943256G>T	ENST00000337774.5	-	13	1986	c.1597C>A	c.(1597-1599)Ctc>Atc	p.L533I		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	533	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.L533I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGACGCCGAGATGCTGTTCA	0.532																																					p.L533I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1597A	3						.						245.0	227.0	233.0					3																	186943256		2203	4300	6503	188425950	SO:0001583	missense	5648	exon13			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1597C>A	3.37:g.186943256G>T	ENSP00000336792:p.Leu533Ile		188425950	NM_001879	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009483	0.35415	.	.	ENSG00000127241	ENST00000337774	D	0.92545	-3.06	5.9	5.9	0.94986	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85729	0.5764	N	0.16016	0.355	0.80722	D	1	B	0.23058	0.079	B	0.34590	0.186	T	0.79818	-0.1643	9	0.22706	T	0.39	.	11.0874	0.48095	0.0833:0.0:0.9167:0.0	.	533	P48740	MASP1_HUMAN	I	533	ENSP00000336792:L533I	ENSP00000336792:L533I	L	-	1	0	MASP1	188425950	0.663000	0.27448	0.756000	0.31282	0.632000	0.37999	1.332000	0.33805	2.793000	0.96121	0.563000	0.77884	CTC		0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879	
RTP4	64108	broad.mit.edu	37	3	187088738	187088738	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:187088738C>A	ENST00000259030.2	+	2	428	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	106					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F106L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCCTGAGTTCTCCTCGGATA	0.512																																					p.F106L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C318A	3						.						67.0	64.0	65.0					3																	187088738		2203	4300	6503	188571432	SO:0001583	missense	64108	exon2			BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.318C>A	3.37:g.187088738C>A	ENSP00000259030:p.Phe106Leu		188571432	NM_022147	Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811583	0.50527	.	.	ENSG00000136514	ENST00000259030	T	0.19938	2.11	4.09	4.09	0.47781	.	0.168001	0.52532	D	0.000065	T	0.39172	0.1068	M	0.62723	1.935	0.34053	D	0.656409	D	0.69078	0.997	D	0.68765	0.96	T	0.47407	-0.9120	10	0.38643	T	0.18	-30.4528	12.1226	0.53900	0.0:1.0:0.0:0.0	.	106	Q96DX8	RTP4_HUMAN	L	106	ENSP00000259030:F106L	ENSP00000259030:F106L	F	+	3	2	RTP4	188571432	1.000000	0.71417	0.985000	0.45067	0.274000	0.26718	2.945000	0.49043	2.589000	0.87451	0.655000	0.94253	TTC		0.512	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147	
BCL6	604	broad.mit.edu	37	3	187447188	187447188	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:187447188C>A	ENST00000406870.2	-	5	1371	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	BCL6_ENST00000232014.4_Missense_Mutation_p.Q335H|BCL6_ENST00000450123.2_Missense_Mutation_p.Q335H|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	335					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q335H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGTCAGATTTCTGGGGGCTCT	0.592			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																p.Q335H			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1005T	3						.						96.0	116.0	109.0					3																	187447188		2203	4300	6503	188929882	SO:0001583	missense	604	exon5				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1005G>T	3.37:g.187447188C>A	ENSP00000384371:p.Gln335His		188929882	NM_001130845	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991483	0.54041	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08370	3.1;3.1;3.11	5.61	4.73	0.59995	.	0.054363	0.85682	D	0.000000	T	0.16769	0.0403	L	0.34521	1.04	0.43471	D	0.99568	D;D	0.67145	0.978;0.996	P;D	0.75484	0.753;0.986	T	0.10730	-1.0617	10	0.18276	T	0.48	.	13.6808	0.62484	0.0:0.9261:0.0:0.0739	.	335;335	B8PSA7;P41182	.;BCL6_HUMAN	H	335	ENSP00000384371:Q335H;ENSP00000232014:Q335H;ENSP00000413122:Q335H	ENSP00000232014:Q335H	Q	-	3	2	BCL6	188929882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.996000	0.29719	1.522000	0.49001	0.561000	0.74099	CAG		0.592	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
LPP	4026	broad.mit.edu	37	3	188584046	188584046	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:188584046C>T	ENST00000312675.4	+	9	1715	c.1469C>T	c.(1468-1470)gCc>gTc	p.A490V	LPP_ENST00000543006.1_Missense_Mutation_p.A490V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	490	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.A490V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ATTCTCCGAGCCACCGGGAAG	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																p.A490V			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1469T	3						.						171.0	145.0	154.0					3																	188584046		2203	4300	6503	190066740	SO:0001583	missense	4026	exon9			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1469C>T	3.37:g.188584046C>T	ENSP00000318089:p.Ala490Val		190066740	NM_001167671	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	36	5.785582	0.96937	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.89343	-2.5;-2.5	5.86	5.86	0.93980	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	M	0.77486	2.375	0.80722	D	1	D;D	0.69078	0.997;0.97	D;P	0.80764	0.994;0.85	D	0.94673	0.7858	10	0.87932	D	0	.	19.1605	0.93529	0.0:1.0:0.0:0.0	.	343;490	B7Z8W0;Q93052	.;LPP_HUMAN	V	490	ENSP00000318089:A490V;ENSP00000438891:A490V	ENSP00000318089:A490V	A	+	2	0	LPP	190066740	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	GCC		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578	
TP63	8626	broad.mit.edu	37	3	189455608	189455608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:189455608G>T	ENST00000264731.3	+	2	231	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	TP63_ENST00000320472.5_Nonsense_Mutation_p.E48*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E48*|TP63_ENST00000418709.2_Nonsense_Mutation_p.E48*|TP63_ENST00000392460.3_Nonsense_Mutation_p.E48*|TP63_ENST00000440651.2_Nonsense_Mutation_p.E48*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	48	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.E48*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGACAAATGAATTCCTCAG	0.378										HNSCC(45;0.13)																											p.E48X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G142T	3						.						89.0	87.0	88.0					3																	189455608		2203	4300	6503	190938302	SO:0001587	stop_gained	8626	exon2			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.142G>T	3.37:g.189455608G>T	ENSP00000264731:p.Glu48*		190938302	NM_001114979	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744512	0.89663	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063	.	.	.	5.56	5.56	0.83823	.	0.247085	0.37809	N	0.001937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0678	18.5098	0.90911	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	.	E	+	1	0	TP63	190938302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.274000	0.78538	2.605000	0.88082	0.655000	0.94253	GAA		0.378	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
TP63	8626	broad.mit.edu	37	3	189584533	189584533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:189584533G>T	ENST00000264731.3	+	6	918	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	TP63_ENST00000354600.5_Nonsense_Mutation_p.E183*|TP63_ENST00000320472.5_Nonsense_Mutation_p.E277*|TP63_ENST00000456148.1_Nonsense_Mutation_p.E183*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E192*|TP63_ENST00000418709.2_Nonsense_Mutation_p.E277*|TP63_ENST00000392460.3_Nonsense_Mutation_p.E277*|TP63_ENST00000392461.3_Nonsense_Mutation_p.E183*|TP63_ENST00000392463.2_Nonsense_Mutation_p.E183*|TP63_ENST00000449992.1_Nonsense_Mutation_p.E98*|TP63_ENST00000437221.1_Nonsense_Mutation_p.E183*|TP63_ENST00000440651.2_Nonsense_Mutation_p.E277*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	277					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.E277*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCAGTATGTAGAAGATCCCAT	0.443										HNSCC(45;0.13)																											p.E183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G547T	3						.						98.0	86.0	90.0					3																	189584533		2203	4300	6503	191067227	SO:0001587	stop_gained	8626	exon4			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.829G>T	3.37:g.189584533G>T	ENSP00000264731:p.Glu277*		191067227	NM_001114980	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608062	0.96626	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1273	18.6853	0.91560	0.0:0.0:1.0:0.0	.	.	.	.	X	277;277;277;277;277;192;183;183;183;183;98;183	.	.	E	+	1	0	TP63	191067227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.771000	0.98977	2.663000	0.90544	0.650000	0.86243	GAA		0.443	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
LEPREL1	55214	broad.mit.edu	37	3	189713219	189713220	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:189713219_189713220CG>TA	ENST00000319332.5	-	2	689_690	c.492_493CG>TA	c.(490-495)ctCGaa>ctTAaa	p.E165K	LEPREL1_ENST00000427335.2_5'UTR	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	165					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.L164>?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTGCTTTTTCGAGCTGGTTAA	0.401																																					.												.	.	1	Complex(1)	large_intestine(1)	c.492_493TA	3						.																																			191195914	SO:0001583	missense	55214	exon2				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.492_493delinsTA	3.37:g.189713219_189713220delinsTA	ENSP00000316881:p.Glu165Lys		191195913	NM_018192	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	DNP	ENST00000319332.5	37	CCDS3294.1																																																																																				0.401	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
IL1RAP	3556	broad.mit.edu	37	3	190363535	190363535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:190363535G>T	ENST00000412504.2	+	10	1501	c.1249G>T	c.(1249-1251)Gaa>Taa	p.E417*	IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.E417*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.E417*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.E417*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.E417*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.E417*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	417	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.E417*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GAATGCGGAAGAAGAAGAATT	0.393																																					p.E417X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1249T	3						.						112.0	111.0	111.0					3																	190363535		2203	4300	6503	191846229	SO:0001587	stop_gained	3556	exon10			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1249G>T	3.37:g.190363535G>T	ENSP00000412053:p.Glu417*		191846229	NM_001167929	B1NLD0|D3DNW0|O14915|Q86WJ7	Nonsense_Mutation	SNP	ENST00000412504.2	37	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	G	41	8.808261	0.98962	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	.	.	.	5.63	5.63	0.86233	.	0.051048	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	.	.	.	X	417	.	ENSP00000072516:E417X	E	+	1	0	IL1RAP	191846229	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.320000	0.96346	2.669000	0.90835	0.655000	0.94253	GAA		0.393	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1		
OSTN	344901	broad.mit.edu	37	3	190967852	190967852	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:190967852G>A	ENST00000339051.1	+	3	344	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	115		Cleavage. {ECO:0000255}.			cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.R115Q(2)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CCAAAAAGGCGATTTGGTATC	0.338																																					p.R115Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G344A	3						.						126.0	130.0	129.0					3																	190967852		2203	4300	6503	192450546	SO:0001583	missense	344901	exon3			AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.344G>A	3.37:g.190967852G>A	ENSP00000342356:p.Arg115Gln		192450546	NM_198184	A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773980	0.90108	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.76637	0.4015	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.78481	-0.2187	9	0.87932	D	0	-19.4972	14.9373	0.70967	0.0:0.0:1.0:0.0	.	115	P61366	OSTN_HUMAN	Q	115	.	ENSP00000342356:R115Q	R	+	2	0	OSTN	192450546	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	4.724000	0.61972	2.601000	0.87937	0.655000	0.94253	CGA		0.338	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184	
CCDC50	152137	broad.mit.edu	37	3	191075806	191075806	+	Silent	SNP	G	G	A	rs370652793		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:191075806G>A	ENST00000392455.3	+	3	730	c.132G>A	c.(130-132)tcG>tcA	p.S44S	CCDC50_ENST00000392456.3_Silent_p.S44S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	44						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.S44S(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		ATTTGGCATCGAACGTTCAGC	0.448																																					p.S44S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G132A	3						.						191.0	176.0	181.0					3																	191075806		2203	4300	6503	192558500	SO:0001819	synonymous_variant	152137	exon3			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.132G>A	3.37:g.191075806G>A			192558500	NM_174908	Q86VH7	Silent	SNP	ENST00000392455.3	37	CCDS33913.1																																																																																				0.448	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
CCDC50	152137	broad.mit.edu	37	3	191098627	191098627	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:191098627G>A	ENST00000392455.3	+	8	1218	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	CCDC50_ENST00000392456.3_Missense_Mutation_p.R383Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	207						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.R383Q(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GAAATCGCTCGACTTCTAATG	0.378																																					p.R207Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620A	3						.						78.0	87.0	84.0					3																	191098627		2203	4300	6503	192581321	SO:0001583	missense	152137	exon8			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.620G>A	3.37:g.191098627G>A	ENSP00000376249:p.Arg207Gln		192581321	NM_174908	Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980152	0.92982	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.44881	1.08;0.91	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.78049	2.395	0.35464	D	0.796733	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.75611	-0.3258	10	0.72032	D	0.01	.	15.3412	0.74300	0.0:0.0:1.0:0.0	.	207;383	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	Q	207;383	ENSP00000376249:R207Q;ENSP00000376250:R383Q	ENSP00000376249:R207Q	R	+	2	0	CCDC50	192581321	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.894000	0.69806	2.683000	0.91414	0.655000	0.94253	CGA		0.378	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
FGF12	2257	broad.mit.edu	37	3	191861894	191861894	+	Silent	SNP	C	C	T	rs369115025		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:191861894C>T	ENST00000454309.2	-	5	1461	c.636G>A	c.(634-636)tcG>tcA	p.S212S	FGF12_ENST00000430714.1_Silent_p.S113S|FGF12_ENST00000445105.2_Silent_p.S150S|FGF12_ENST00000264730.3_Silent_p.S150S|FGF12_ENST00000450716.1_Silent_p.S150S	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	212					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.S212S(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTTCATGTAGCGATGGTTCTC	0.348																																					p.S150S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	3						.						289.0	253.0	265.0					3																	191861894		2203	4300	6503	193344588	SO:0001819	synonymous_variant	2257	exon6			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.636G>A	3.37:g.191861894C>T			193344588	NM_004113	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	CCDS3301.1																																																																																				0.348	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032	
KCNH8	131096	broad.mit.edu	37	3	19498417	19498417	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:19498417C>T	ENST00000328405.2	+	11	2249	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	661					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.F661F(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413																																					p.F661F	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1983T	3						.						133.0	112.0	119.0					3																	19498417		2203	4298	6501	19473421	SO:0001819	synonymous_variant	131096	exon11			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1983C>T	3.37:g.19498417C>T			19473421	NM_144633	B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	CCDS2632.1																																																																																				0.413	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
KCNH8	131096	broad.mit.edu	37	3	19575274	19575274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:19575274G>T	ENST00000328405.2	+	16	3273	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1003	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E1003*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGTTGTCCAAGAAGGTCATTT	0.458																																					p.E1003X	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3007T	3						.						236.0	231.0	233.0					3																	19575274		2203	4300	6503	19550278	SO:0001587	stop_gained	131096	exon16			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3007G>T	3.37:g.19575274G>T	ENSP00000328813:p.Glu1003*		19550278	NM_144633	B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	40	8.335468	0.98764	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.51	5.51	0.81932	.	0.000000	0.32314	U	0.006264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5405	0.45031	0.118:0.0:0.882:0.0	.	.	.	.	X	1003	.	.	E	+	1	0	KCNH8	19550278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.133000	0.64764	2.593000	0.87608	0.655000	0.94253	GAA		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
ATP13A5	344905	broad.mit.edu	37	3	193062798	193062798	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:193062798C>A	ENST00000342358.4	-	8	925	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	270						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.D270Y(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCTTTGTCTTTTACAATG	0.358																																					p.D270Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808T	3						.						209.0	180.0	190.0					3																	193062798		2203	4300	6503	194545492	SO:0001583	missense	344905	exon8			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.808G>T	3.37:g.193062798C>A	ENSP00000341942:p.Asp270Tyr		194545492	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968436	0.34754	.	.	ENSG00000187527	ENST00000342358	D	0.90385	-2.66	4.82	4.82	0.62117	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.476025	0.21020	N	0.081530	D	0.91297	0.7256	M	0.75615	2.305	0.38293	D	0.942761	P	0.41498	0.752	P	0.45474	0.482	D	0.92895	0.6334	10	0.72032	D	0.01	-1.6336	11.8737	0.52536	0.0:0.912:0.0:0.088	.	270	Q4VNC0	AT135_HUMAN	Y	270	ENSP00000341942:D270Y	ENSP00000341942:D270Y	D	-	1	0	ATP13A5	194545492	0.032000	0.19561	0.950000	0.38849	0.023000	0.10783	1.100000	0.31025	2.615000	0.88500	0.655000	0.94253	GAC		0.358	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A3	79572	broad.mit.edu	37	3	194180573	194180573	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:194180573G>A	ENST00000439040.1	-	5	1144	c.353C>T	c.(352-354)cCc>cTc	p.P118L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P118L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	118						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.P118L(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTCTTCAGTGGGATTCTCAAT	0.333																																					p.P118L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	3						.						145.0	137.0	139.0					3																	194180573		1833	4096	5929	195661862	SO:0001583	missense	79572	exon4			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.353C>T	3.37:g.194180573G>A	ENSP00000416508:p.Pro118Leu		195661862	NM_024524	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.070653	0.00379	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.85702	-2.02;-2.02	4.91	1.03	0.20045	.	0.952726	0.08693	N	0.907714	T	0.71187	0.3310	N	0.19112	0.55	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.52845	-0.8521	10	0.21540	T	0.41	1.4535	5.0574	0.14540	0.4072:0.0:0.4464:0.1464	.	118	Q9H7F0	AT133_HUMAN	L	118	ENSP00000416508:P118L;ENSP00000256031:P118L	ENSP00000256031:P118L	P	-	2	0	ATP13A3	195661862	0.022000	0.18835	0.036000	0.18154	0.054000	0.15201	0.238000	0.18004	-0.074000	0.12820	0.585000	0.79938	CCC		0.333	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
ACAP2	23527	broad.mit.edu	37	3	195029559	195029559	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195029559A>G	ENST00000326793.6	-	11	1095	c.865T>C	c.(865-867)Ttt>Ctt	p.F289L		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	289	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.F289L(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TGTATTGAAAACCAGCGCCTA	0.299																																					p.F289L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T865C	3						.						59.0	62.0	61.0					3																	195029559		2201	4286	6487	196510848	SO:0001583	missense	23527	exon11				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.865T>C	3.37:g.195029559A>G	ENSP00000324287:p.Phe289Leu		196510848	NM_012287	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.9|28.9	4.957767|4.957767	0.92726|0.92726	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.10382|.	2.88|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88966|0.88966	0.6581|0.6581	H|H	0.98446|0.98446	4.235|4.235	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93072|0.93072	0.6483|0.6483	10|5	0.87932|.	D|.	0|.	.|.	15.2535|15.2535	0.73568|0.73568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	289|.	Q15057|.	ACAP2_HUMAN|.	L|A	289|163	ENSP00000324287:F289L|.	ENSP00000324287:F289L|.	F|V	-|-	1|2	0|0	ACAP2|ACAP2	196510848|196510848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.875000|8.875000	0.92372|0.92372	2.189000|2.189000	0.69895|0.69895	0.528000|0.528000	0.53228|0.53228	TTT|GTT		0.299	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
ACAP2	23527	broad.mit.edu	37	3	195057696	195057696	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195057696G>T	ENST00000326793.6	-	7	768	c.538C>A	c.(538-540)Ctt>Att	p.L180I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	180	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L180I(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTGATTGAAGAACATTAATC	0.264																																					p.L180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538A	3						.						63.0	63.0	63.0					3																	195057696		2203	4292	6495	196538985	SO:0001583	missense	23527	exon7				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.538C>A	3.37:g.195057696G>T	ENSP00000324287:p.Leu180Ile		196538985	NM_012287	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.006518|3.006518	0.54361|0.54361	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758;ENST00000423531	T|.	0.05139|.	3.49|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67163|0.67163	0.2864|0.2864	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	P|.	0.45672|.	0.864|.	B|.	0.42214|.	0.38|.	T|T	0.61063|0.61063	-0.7138|-0.7138	10|5	0.10902|.	T|.	0.67|.	.|.	18.806|18.806	0.92037|0.92037	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180|.	Q15057|.	ACAP2_HUMAN|.	I|Y	180|50;133	ENSP00000324287:L180I|.	ENSP00000324287:L180I|.	L|S	-|-	1|2	0|0	ACAP2|ACAP2	196538985|196538985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.234000|7.234000	0.78134|0.78134	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.264	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
PPP1R2	5504	broad.mit.edu	37	3	195245893	195245893	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195245893G>T	ENST00000328432.3	-	5	853	c.493C>A	c.(493-495)Cta>Ata	p.L165I		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	165					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)	p.L165I(1)		endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCATCATGTAGGTCTTTTGAA	0.343																																					p.L165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493A	3						.						146.0	145.0	146.0					3																	195245893		2202	4295	6497	196727182	SO:0001583	missense	5504	exon5			U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.493C>A	3.37:g.195245893G>T	ENSP00000328178:p.Leu165Ile		196727182	NM_006241		Missense_Mutation	SNP	ENST00000328432.3	37	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568853	0.65765	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	5.36	4.49	0.54785	.	0.000000	0.64402	D	0.000004	T	0.75213	0.3819	M	0.72894	2.215	0.39762	D	0.972049	D	0.61697	0.99	D	0.67725	0.953	T	0.78081	-0.2343	9	0.54805	T	0.06	.	11.9486	0.52942	0.085:0.0:0.915:0.0	.	165	P41236	IPP2_HUMAN	I	165;139	.	ENSP00000328178:L165I	L	-	1	2	PPP1R2	196727182	1.000000	0.71417	0.978000	0.43139	0.964000	0.63967	3.871000	0.56077	1.393000	0.46605	0.467000	0.42956	CTA		0.343	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241	
APOD	347	broad.mit.edu	37	3	195295973	195295973	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195295973G>A	ENST00000343267.3	-	5	729	c.368C>T	c.(367-369)aCc>aTc	p.T123I		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	123					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)	p.T123I(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCATAGTCGGTGGCCAGGAT	0.488																																					p.T123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C368T	3						.						119.0	116.0	117.0					3																	195295973		2203	4300	6503	196777262	SO:0001583	missense	347	exon5				CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.368C>T	3.37:g.195295973G>A	ENSP00000345179:p.Thr123Ile		196777262	NM_001647	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	ENST00000343267.3	37	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777779	0.90195	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.35789	1.29;1.29;1.29	5.92	5.92	0.95590	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.62209	1.925	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.46176	-0.9210	10	0.29301	T	0.29	-35.9087	15.8208	0.78644	0.0:0.0:1.0:0.0	.	123	P05090	APOD_HUMAN	I	123;151;123	ENSP00000345179:T123I;ENSP00000415235:T151I;ENSP00000393076:T123I	ENSP00000345179:T123I	T	-	2	0	APOD	196777262	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.803000	0.91915	2.813000	0.96785	0.561000	0.74099	ACC		0.488	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647	
MUC4	4585	broad.mit.edu	37	3	195474167	195474167	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195474167G>T	ENST00000346145.4	-	24	3450	c.3411C>A	c.(3409-3411)ttC>ttA	p.F1137L	MUC4_ENST00000475231.1_Missense_Mutation_p.F5321L|MUC4_ENST00000463781.3_Missense_Mutation_p.F5373L|MUC4_ENST00000349607.4_Missense_Mutation_p.F1086L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2130					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.F1137L(1)|p.F5245L(1)|p.F5373L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGCCCCAAAGAAGATGCCGA	0.612																																					p.F1086L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3258A	3						.						75.0	72.0	73.0					3																	195474167		2203	4300	6503	196959838	SO:0001583	missense	4585	exon23			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3411C>A	3.37:g.195474167G>T	ENSP00000304207:p.Phe1137Leu		196959838	NM_138297	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	g	13.16	2.152755	0.38021	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.26067	1.76;2.12;2.36;2.2	5.14	2.12	0.27331	.	0.310100	0.23105	N	0.051878	T	0.04137	0.0115	N	0.00193	-1.875	0.21147	N	0.999777	B;B;B;B;B;B	0.14438	0.01;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0;0.0	T	0.41787	-0.9489	10	0.02654	T	1	-13.1209	6.4845	0.22081	0.1899:0.1641:0.646:0.0	.	5245;1086;1137;5373;5321;2078	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	L	1086;1137;5373;5321;1873	ENSP00000338109:F1086L;ENSP00000304207:F1137L;ENSP00000417498:F5373L;ENSP00000420243:F5321L	ENSP00000304207:F1137L	F	-	3	2	MUC4	196959838	0.985000	0.35326	1.000000	0.80357	0.804000	0.45430	0.044000	0.13992	0.575000	0.29434	0.543000	0.68304	TTC		0.612	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195486080	195486080	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195486080C>T	ENST00000346145.4	-	16	2232	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G	MUC4_ENST00000475231.1_Silent_p.G4915G|MUC4_ENST00000463781.3_Silent_p.G4967G|MUC4_ENST00000349607.4_Silent_p.G680G	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1724					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.G731G(1)|p.G4967G(1)|p.G4839G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGTGGTCTGCCCCTTGTAGG	0.542																																					p.G680G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G2040A	3						.						274.0	263.0	267.0					3																	195486080		2203	4300	6503	196971751	SO:0001819	synonymous_variant	4585	exon15			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2193G>A	3.37:g.195486080C>T			196971751	NM_138297	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																				0.542	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195493607	195493607	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195493607G>A	ENST00000346145.4	-	7	876	c.837C>T	c.(835-837)ttC>ttT	p.F279F	MUC4_ENST00000475231.1_Silent_p.F4463F|MUC4_ENST00000463781.3_Silent_p.F4515F|MUC4_ENST00000349607.4_Silent_p.F228F	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1272					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.F4387F(1)|p.F279F(1)|p.F4515F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCTGTTTTCGAAATAGCCAT	0.547																																					p.F228F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C684T	3						.						124.0	105.0	112.0					3																	195493607		2203	4300	6503	196979278	SO:0001819	synonymous_variant	4585	exon6			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.837C>T	3.37:g.195493607G>A			196979278	NM_138297	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	CCDS3310.1																																																																																				0.547	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	
MUC4	4585	broad.mit.edu	37	3	195516821	195516821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195516821C>A	ENST00000463781.3	-	2	2089	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.E544*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	549					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.E544*(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGTGGGCTCTCCTGGTTCC	0.562																																					p.E544X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1630T	3						.						162.0	157.0	159.0					3																	195516821		1954	4128	6082	197001216	SO:0001587	stop_gained	4585	exon2			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1630G>T	3.37:g.195516821C>A	ENSP00000417498:p.Glu544*		197001216	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	18.84	3.708622	0.68615	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	1.88	-3.77	0.04346	.	31.643000	0.00508	U	0.000174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	4.2722	0.10792	0.115:0.411:0.3601:0.1139	.	.	.	.	X	544;544;518	.	ENSP00000376209:E518X	E	-	1	0	MUC4	197001216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.037000	0.00634	-3.055000	0.00258	-1.281000	0.01382	GAG		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
SLC51A	200931	broad.mit.edu	37	3	195960000	195960000	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:195960000G>A	ENST00000296327.5	+	9	1162	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	PCYT1A_ENST00000419333.1_Intron	NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	318					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.R318Q(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ATGTACTACCGAAGGAAAGAC	0.458																																					p.R318Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953A	3						.						188.0	163.0	171.0					3																	195960000		2203	4300	6503	197444397	SO:0001583	missense	200931	exon9				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.953G>A	3.37:g.195960000G>A	ENSP00000296327:p.Arg318Gln		197444397	NM_152672	Q6ZMC7	Missense_Mutation	SNP	ENST00000296327.5	37	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837000	0.91117	.	.	ENSG00000163959	ENST00000296327	T	0.41400	1.0	6.03	6.03	0.97812	.	0.000000	0.41294	D	0.000901	T	0.67552	0.2905	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.66905	-0.5805	10	0.49607	T	0.09	-8.2829	19.1349	0.93424	0.0:0.0:1.0:0.0	.	318	Q86UW1	OSTA_HUMAN	Q	318	ENSP00000296327:R318Q	ENSP00000296327:R318Q	R	+	2	0	AC069257.9	197444397	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	6.209000	0.72171	2.861000	0.98227	0.655000	0.94253	CGA		0.458	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672	
TM4SF19	116211	broad.mit.edu	37	3	196051178	196051178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196051178C>T	ENST00000273695.3	-	4	538	c.413G>A	c.(412-414)tGg>tAg	p.W138*	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Nonsense_Mutation_p.W112*|TM4SF19_ENST00000446879.1_Nonsense_Mutation_p.W138*|TM4SF19_ENST00000442633.1_Nonsense_Mutation_p.W138*|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	138						integral component of membrane (GO:0016021)		p.W138*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACCATATTTCCAAGCTTGTGT	0.428																																					p.W138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G413A	3						.						100.0	92.0	95.0					3																	196051178		2203	4300	6503	197535575	SO:0001587	stop_gained	116211	exon4			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.413G>A	3.37:g.196051178C>T	ENSP00000273695:p.Trp138*		197535575	NM_138461	B2RV20|E9PH22|Q336K7	Nonsense_Mutation	SNP	ENST00000273695.3	37	CCDS3316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.098726|5.098726	0.94197|0.94197	.|.	.|.	ENSG00000145107|ENSG00000145107	ENST00000440822|ENST00000446879;ENST00000454715;ENST00000273695	.|.	.|.	.|.	5.01|5.01	3.09|3.09	0.35607|0.35607	.|.	.|0.506550	.|0.17669	.|N	.|0.166027	T|.	0.39332|.	0.1074|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10776|.	-1.0615|.	4|.	.|0.15952	.|T	.|0.53	-9.2936|-9.2936	5.6158|5.6158	0.17430|0.17430	0.0:0.669:0.2202:0.1108|0.0:0.669:0.2202:0.1108	.|.	.|.	.|.	.|.	R|X	6|138;112;138	.|.	.|ENSP00000273695:W138X	G|W	-|-	1|2	0|0	TM4SF19|TM4SF19	197535575|197535575	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	0.875000|0.875000	0.28079|0.28079	2.311000|2.311000	0.77944|0.77944	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.428	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461	
TM4SF19	116211	broad.mit.edu	37	3	196053869	196053869	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196053869C>A	ENST00000273695.3	-	3	361	c.236G>T	c.(235-237)gGc>gTc	p.G79V	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Intron|TM4SF19_ENST00000446879.1_Missense_Mutation_p.G79V|TM4SF19_ENST00000442633.1_Missense_Mutation_p.G79V|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	79						integral component of membrane (GO:0016021)		p.G79V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTATCTCCAGCCCATCAAGGA	0.507																																					p.G79V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236T	3						.						88.0	82.0	84.0					3																	196053869		2203	4300	6503	197538266	SO:0001583	missense	116211	exon3			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.236G>T	3.37:g.196053869C>A	ENSP00000273695:p.Gly79Val		197538266	NM_138461	B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584304	0.65992	.	.	ENSG00000145107	ENST00000446879;ENST00000273695	T;T	0.30981	1.51;1.51	5.37	5.37	0.77165	.	0.262310	0.32918	N	0.005495	T	0.58466	0.2124	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61267	-0.7097	10	0.49607	T	0.09	-12.5002	14.6173	0.68558	0.0:1.0:0.0:0.0	.	79;79	C9JCD5;Q96DZ7	.;T4S19_HUMAN	V	79	ENSP00000395280:G79V;ENSP00000273695:G79V	ENSP00000273695:G79V	G	-	2	0	TM4SF19	197538266	1.000000	0.71417	0.992000	0.48379	0.635000	0.38103	3.845000	0.55880	2.528000	0.85240	0.655000	0.94253	GGC		0.507	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461	
UBXN7	26043	broad.mit.edu	37	3	196134247	196134247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196134247C>A	ENST00000296328.4	-	2	165	c.91G>T	c.(91-93)Gga>Tga	p.G31*	UBXN7_ENST00000535858.1_Intron|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	31						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.G31*(2)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATATGTTTTCCTACACTTTCA	0.388																																					p.G31X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G91T	3						.						153.0	136.0	142.0					3																	196134247		1878	4107	5985	197618644	SO:0001587	stop_gained	26043	exon2			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.91G>T	3.37:g.196134247C>A	ENSP00000296328:p.Gly31*		197618644	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Nonsense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.490279|5.490279	0.96339|0.96339	.|.	.|.	ENSG00000163960|ENSG00000163960	ENST00000296328|ENST00000381887	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75027	.|0.3794	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73424	.|-0.3987	.|4	0.72032|.	D|.	0.01|.	-14.5909|-14.5909	18.9054|18.9054	0.92458|0.92458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	31|30	.|.	ENSP00000296328:G31X|.	G|R	-|-	1|2	0|0	UBXN7|UBXN7	197618644|197618644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.123000|7.123000	0.77176|0.77176	2.558000|2.558000	0.86282|0.86282	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.388	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
WDR53	348793	broad.mit.edu	37	3	196288061	196288061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196288061C>A	ENST00000332629.5	-	3	853	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	96								p.E96*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAATTGATTTCTTCTTCATTC	0.423																																					p.E96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	3						.						131.0	127.0	129.0					3																	196288061		2203	4300	6503	197772458	SO:0001587	stop_gained	348793	exon3			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.286G>T	3.37:g.196288061C>A	ENSP00000328079:p.Glu96*		197772458	NM_182627	A0MNP1	Nonsense_Mutation	SNP	ENST00000332629.5	37	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467717	0.96257	.	.	ENSG00000185798	ENST00000332629;ENST00000456677;ENST00000425888	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-4.3131	19.3331	0.94299	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000328079:E96X	E	-	1	0	WDR53	197772458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.954000	0.76001	2.802000	0.96397	0.655000	0.94253	GAA		0.423	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627	
FBXO45	200933	broad.mit.edu	37	3	196311045	196311045	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196311045G>T	ENST00000311630.6	+	3	1014	c.717G>T	c.(715-717)aaG>aaT	p.K239N	FBXO45_ENST00000440469.1_Missense_Mutation_p.K60N	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	239	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.K239N(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGGAAGATAAGACTTTAGCTT	0.413																																					p.K239N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G717T	3						.						138.0	132.0	134.0					3																	196311045		1840	4088	5928	197795442	SO:0001583	missense	200933	exon3			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.717G>T	3.37:g.196311045G>T	ENSP00000310332:p.Lys239Asn		197795442	NM_001105573	A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	G	9.675	1.147796	0.21288	.	.	ENSG00000174013	ENST00000440469;ENST00000311630	T;T	0.60424	0.19;0.19	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	N	0.01140	-0.99	0.58432	D	0.999999	B	0.12630	0.006	B	0.15052	0.012	T	0.20174	-1.0283	10	0.23302	T	0.38	-6.6731	6.198	0.20559	0.2181:0.0:0.7819:0.0	.	239	P0C2W1	FBSP1_HUMAN	N	60;239	ENSP00000389868:K60N;ENSP00000310332:K239N	ENSP00000310332:K239N	K	+	3	2	FBXO45	197795442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.041000	0.64196	2.740000	0.93945	0.563000	0.77884	AAG		0.413	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2		
NRROS	375387	broad.mit.edu	37	3	196388447	196388447	+	Missense_Mutation	SNP	C	C	T	rs538217990		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196388447C>T	ENST00000328557.4	+	3	2136	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	645					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R645W(1)									CAAGTGGGAGCGGCTGGACCT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		13101	0.0		0.0	False		,,,				2504	0.001				p.R645W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1933T	3						.						78.0	86.0	83.0					3																	196388447		2203	4300	6503	197872844	SO:0001583	missense	375387	exon3			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1933C>T	3.37:g.196388447C>T	ENSP00000328625:p.Arg645Trp		197872844	NM_198565		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384754	0.42308	.	.	ENSG00000174004	ENST00000328557	T	0.48522	0.81	5.67	3.74	0.42951	.	1.021460	0.07786	N	0.954167	T	0.47377	0.1442	L	0.44542	1.39	0.20489	N	0.999893	D	0.65815	0.995	B	0.44315	0.446	T	0.44498	-0.9324	10	0.66056	D	0.02	.	13.8375	0.63419	0.4671:0.5329:0.0:0.0	.	645	Q86YC3	LRC33_HUMAN	W	645	ENSP00000328625:R645W	ENSP00000328625:R645W	R	+	1	2	LRRC33	197872844	0.001000	0.12720	0.924000	0.36721	0.756000	0.42949	1.049000	0.30392	1.457000	0.47850	0.655000	0.94253	CGG		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	
CEP19	84984	broad.mit.edu	37	3	196434508	196434508	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196434508A>T	ENST00000399942.4	-	2	595	c.301T>A	c.(301-303)Ttt>Att	p.F101I	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Missense_Mutation_p.F140I			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	136						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.F136I(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						TCATAAACAAAATTTGGATCA	0.413																																					p.F140I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T418A	3						.						156.0	145.0	148.0					3																	196434508		1912	4126	6038	197918905	SO:0001583	missense	84984	exon3			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.301T>A	3.37:g.196434508A>T	ENSP00000382823:p.Phe101Ile		197918905	NM_032898	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	A	29.9	5.042648	0.93685	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84012	0.0349	9	0.87932	D	0	-12.639	16.2026	0.82095	1.0:0.0:0.0:0.0	.	136	Q96LK0	CEP19_HUMAN	I	140;101	.	ENSP00000382823:F101I	F	-	1	0	CEP19	197918905	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.616000	0.90924	2.285000	0.76669	0.533000	0.62120	TTT		0.413	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898	
PIGX	54965	broad.mit.edu	37	3	196449344	196449344	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196449344C>A	ENST00000421265.1	+	3	165	c.112C>A	c.(112-114)Ctc>Atc	p.L38I	PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.L38I			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	79					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L38I(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CACCTGCCGTCTCTTAATTAA	0.398																																					p.L79I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235A	3						.						171.0	173.0	172.0					3																	196449344		2203	4300	6503	197933741	SO:0001583	missense	54965	exon3			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.112C>A	3.37:g.196449344C>A	ENSP00000416446:p.Leu38Ile		197933741	NM_017861	Q9NWZ2	Missense_Mutation	SNP	ENST00000421265.1	37		.	.	.	.	.	.	.	.	.	.	C	15.63	2.890978	0.52014	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	6.05	5.16	0.70880	.	0.149777	0.44097	D	0.000491	T	0.33323	0.0859	L	0.58101	1.795	0.80722	D	1	P;P	0.38827	0.649;0.515	B;B	0.35770	0.21;0.163	T	0.06250	-1.0837	10	0.34782	T	0.22	-11.7553	12.2837	0.54779	0.0:0.7415:0.2585:0.0	.	79;79	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	I	38;79;38;79;38;38	ENSP00000409073:L38I;ENSP00000376192:L79I;ENSP00000317301:L38I;ENSP00000296333:L79I;ENSP00000416446:L38I;ENSP00000390804:L38I	ENSP00000296333:L79I	L	+	1	0	PIGX	197933741	0.999000	0.42202	1.000000	0.80357	0.791000	0.44710	1.432000	0.34936	2.880000	0.98712	0.655000	0.94253	CTC		0.398	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861	
PIGX	54965	broad.mit.edu	37	3	196454964	196454964	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196454964G>A	ENST00000421265.1	+	4	419	c.366G>A	c.(364-366)tcG>tcA	p.S122S	PIGX_ENST00000541663.1_Silent_p.S55S|PIGX_ENST00000314118.4_Silent_p.S122S			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	163					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.S122S(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAGAAGCCTCGATTGTGGTCA	0.458																																					p.S163S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G489A	3						.						155.0	140.0	145.0					3																	196454964		2203	4300	6503	197939361	SO:0001819	synonymous_variant	54965	exon4			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.366G>A	3.37:g.196454964G>A			197939361	NM_017861	Q9NWZ2	Silent	SNP	ENST00000421265.1	37																																																																																					0.458	PIGX-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000340684.1	NM_017861	
PIGX	54965	broad.mit.edu	37	3	196457908	196457908	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196457908C>A	ENST00000314118.4	+	5	737	c.455C>A	c.(454-456)cCt>cAt	p.P152H	PIGX_ENST00000541663.1_Missense_Mutation_p.P103H	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	193					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.P152H(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GTGGCAGCCCCTTGTGCTTTG	0.388																																					p.P193H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578A	3						.						92.0	84.0	87.0					3																	196457908		2203	4300	6503	197942305	SO:0001583	missense	54965	exon5			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.455C>A	3.37:g.196457908C>A	ENSP00000317301:p.Pro152His		197942305	NM_017861	Q9NWZ2	Missense_Mutation	SNP	ENST00000314118.4	37		.	.	.	.	.	.	.	.	.	.	C	19.50	3.839274	0.71373	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000541663	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.94	4.94	0.65067	.	0.133715	0.49916	D	0.000122	T	0.51941	0.1704	M	0.64404	1.975	0.44595	D	0.997563	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.53753	-0.8394	10	0.72032	D	0.01	-5.8843	14.066	0.64828	0.0:1.0:0.0:0.0	.	211;193	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	H	152;193;152;211;103	ENSP00000409073:P152H;ENSP00000376192:P193H;ENSP00000317301:P152H;ENSP00000296333:P211H;ENSP00000443269:P103H	ENSP00000296333:P211H	P	+	2	0	PIGX	197942305	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.102000	0.57776	2.451000	0.82905	0.644000	0.83932	CCT		0.388	PIGX-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017861	
PAK2	5062	broad.mit.edu	37	3	196509533	196509533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196509533G>T	ENST00000327134.3	+	2	338	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	6					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.E6*(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TGATAACGGAGAACTGGAAGA	0.408																																					p.E6X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G16T	3						.						91.0	97.0	95.0					3																	196509533		2203	4300	6503	197993930	SO:0001587	stop_gained	5062	exon2			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.16G>T	3.37:g.196509533G>T	ENSP00000314067:p.Glu6*		197993930	NM_002577	Q13154|Q6ISC3	Nonsense_Mutation	SNP	ENST00000327134.3	37	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	39	7.613493	0.98390	.	.	ENSG00000180370	ENST00000327134	.	.	.	5.21	5.21	0.72293	.	0.051698	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.756	0.91833	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000314067:E6X	E	+	1	0	PAK2	197993930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.260000	0.78391	2.456000	0.83038	0.655000	0.94253	GAA		0.408	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577	
SENP5	205564	broad.mit.edu	37	3	196612407	196612407	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196612407C>A	ENST00000323460.5	+	2	604	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	SENP5_ENST00000445299.2_Missense_Mutation_p.L119M|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	119					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L119M(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGCAGAGAAGCTGTTGTCATC	0.403																																					p.L119M	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355A	3						.						60.0	62.0	61.0					3																	196612407		2203	4300	6503	198096804	SO:0001583	missense	205564	exon2			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.355C>A	3.37:g.196612407C>A	ENSP00000327197:p.Leu119Met		198096804	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588336	0.28357	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.31247	1.87;1.5	5.18	1.33	0.21861	.	0.433561	0.19574	N	0.111023	T	0.22322	0.0538	N	0.24115	0.695	0.80722	D	1	P;D	0.56521	0.535;0.976	B;P	0.48030	0.403;0.564	T	0.03875	-1.0996	10	0.87932	D	0	-8.0E-4	5.5835	0.17262	0.0:0.1686:0.1438:0.6876	.	119;119	B4DY82;Q96HI0	.;SENP5_HUMAN	M	119	ENSP00000327197:L119M;ENSP00000390231:L119M	ENSP00000327197:L119M	L	+	1	2	SENP5	198096804	0.955000	0.32602	0.460000	0.27093	0.400000	0.30750	0.202000	0.17295	0.119000	0.18210	-0.294000	0.09567	CTG		0.403	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
SENP5	205564	broad.mit.edu	37	3	196626619	196626619	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:196626619C>A	ENST00000323460.5	+	3	1845	c.1596C>A	c.(1594-1596)gtC>gtA	p.V532V	SENP5_ENST00000445299.2_Silent_p.V532V|SENP5_ENST00000419026.1_Silent_p.V22V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	532					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.V532V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TAAAAGATGTCTTTAATGAAG	0.303																																					p.V532V	Ovarian(47;891 1095 11174 13858 51271)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1596A	3						.						68.0	75.0	73.0					3																	196626619		2201	4296	6497	198111016	SO:0001819	synonymous_variant	205564	exon3			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1596C>A	3.37:g.196626619C>A			198111016	NM_152699	B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	CCDS3322.1																																																																																				0.303	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
KIAA0226	9711	broad.mit.edu	37	3	197427516	197427516	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:197427516G>A	ENST00000296343.5	-	7	1228	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S410L|KIAA0226_ENST00000273582.5_Missense_Mutation_p.S350L|KIAA0226_ENST00000449205.1_Missense_Mutation_p.S410L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	410	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.S243L(1)|p.S350L(1)|p.S410L(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTGGTATCCGAATGGGAGCG	0.547																																					p.S410L	Esophageal Squamous(3;167 355 3763 15924)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1229T	3						.						84.0	85.0	85.0					3																	197427516		2024	4179	6203	198911913	SO:0001583	missense	9711	exon7			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1229C>T	3.37:g.197427516G>A	ENSP00000296343:p.Ser410Leu		198911913	NM_014687	Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606947|4.606947	0.87157|0.87157	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048;ENST00000449205	.|.	.|.	.|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74756|0.74756	0.3758|0.3758	L|L	0.48642|0.48642	1.525|1.525	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;0.997;1.0;0.998	.|D;D;P;D;P	.|0.91635	.|0.996;0.993;0.803;0.999;0.814	T|T	0.76225|0.76225	-0.3037|-0.3037	5|9	.|0.66056	.|D	.|0.02	.|.	17.4945|17.4945	0.87713|0.87713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|410;243;410;350;410	.|E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622	.|.;.;.;.;RUBIC_HUMAN	W|L	169|350;410;410;42;410	.|.	.|ENSP00000273582:S350L	R|S	-|-	1|2	2|0	KIAA0226|KIAA0226	198911913|198911913	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.734000|0.734000	0.41952|0.41952	7.496000|7.496000	0.81526|0.81526	2.556000|2.556000	0.86216|0.86216	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.547	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	
LRCH3	84859	broad.mit.edu	37	3	197541800	197541800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:197541800C>A	ENST00000425562.2	+	2	284	c.284C>A	c.(283-285)tCa>tAa	p.S95*	LRCH3_ENST00000438796.2_Nonsense_Mutation_p.S95*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.S95*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.S95*|LRCH3_ENST00000441090.2_Intron			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	95						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S95*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AATCGCCTTTCAGAAATTCCT	0.308																																					p.S95X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C284A	3						.						43.0	46.0	45.0					3																	197541800		2201	4297	6498	199026197	SO:0001587	stop_gained	84859	exon2			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.284C>A	3.37:g.197541800C>A	ENSP00000393579:p.Ser95*		199026197	NM_032773	B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	C	35	5.413081	0.96072	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.6	5.6	0.85130	.	0.171234	0.40144	N	0.001161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-13.8431	19.2738	0.94021	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000334375:S95X	S	+	2	0	LRCH3	199026197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.394000	0.66285	2.654000	0.90174	0.650000	0.86243	TCA		0.308	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
LMLN	89782	broad.mit.edu	37	3	197701931	197701931	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:197701931G>T	ENST00000330198.4	+	3	358	c.336G>T	c.(334-336)aaG>aaT	p.K112N	LMLN_ENST00000420910.2_Missense_Mutation_p.K112N|LMLN_ENST00000482695.1_Missense_Mutation_p.K60N|LMLN_ENST00000332636.5_Missense_Mutation_p.K60N	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	112					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.K112N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTGAGAAAAAGAATCTTGTAA	0.294																																					p.K112N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G336T	3						.						63.0	76.0	72.0					3																	197701931		2203	4300	6503	199186328	SO:0001583	missense	89782	exon3			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.336G>T	3.37:g.197701931G>T	ENSP00000328829:p.Lys112Asn		199186328	NM_033029	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884810	0.17540	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.44	0.686	0.18015	.	0.229573	0.41294	D	0.000911	T	0.31199	0.0789	L	0.42245	1.32	0.09310	N	0.999993	B;B;B;B	0.33266	0.01;0.404;0.355;0.008	B;B;B;B	0.36335	0.016;0.222;0.145;0.015	T	0.16512	-1.0400	10	0.49607	T	0.09	-6.5246	5.6931	0.17841	0.6196:0.0:0.3804:0.0	.	112;60;112;60	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	N	60;112;40;112;60	ENSP00000418324:K60N;ENSP00000328829:K112N;ENSP00000390872:K40N;ENSP00000410926:K112N;ENSP00000328611:K60N	ENSP00000328829:K112N	K	+	3	2	LMLN	199186328	0.659000	0.27411	0.701000	0.30321	0.793000	0.44817	0.593000	0.23999	0.260000	0.21731	-0.355000	0.07637	AAG		0.294	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	
CHL1	10752	broad.mit.edu	37	3	383609	383609	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:383609G>A	ENST00000256509.2	+	7	1165	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	CHL1_ENST00000397491.2_Missense_Mutation_p.E175K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	577	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E175K(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAACACATCGAACAAGATGA	0.368																																					p.E175K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	3						.						69.0	63.0	65.0					3																	383609		2203	4300	6503	358609	SO:0001583	missense	10752	exon7			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.523G>A	3.37:g.383609G>A	ENSP00000256509:p.Glu175Lys		358609	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	4.846	0.157328	0.09236	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.60040	1.12;1.12;0.22	5.43	-2.2	0.06994	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.552403	0.20138	N	0.098431	T	0.53769	0.1817	L	0.39020	1.185	0.09310	N	1	B;B;D	0.58620	0.317;0.317;0.983	B;B;P	0.55545	0.035;0.035;0.778	T	0.53872	-0.8377	10	0.37606	T	0.19	.	10.8119	0.46551	0.1586:0.6299:0.2115:0.0	.	175;175;175	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	175	ENSP00000256509:E175K;ENSP00000380628:E175K;ENSP00000397445:E175K	ENSP00000256509:E175K	E	+	1	0	CHL1	358609	0.026000	0.19158	0.000000	0.03702	0.600000	0.36913	0.744000	0.26245	-0.176000	0.10707	-0.282000	0.10007	GAA		0.368	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	386290	386290	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:386290G>T	ENST00000256509.2	+	9	1388	c.746G>T	c.(745-747)aGa>aTa	p.R249I	CHL1_ENST00000397491.2_Missense_Mutation_p.R233I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R249I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCAAGCAAAGAAAACCCAAA	0.368																																					p.R249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746T	3						.						103.0	97.0	99.0					3																	386290		2203	4300	6503	361290	SO:0001583	missense	10752	exon9			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.746G>T	3.37:g.386290G>T	ENSP00000256509:p.Arg249Ile		361290	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923280	0.92319	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.61742	0.08;0.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.988;0.997	T	0.82617	-0.0369	10	0.87932	D	0	.	17.5899	0.87993	0.0:0.0:1.0:0.0	.	233;233;249	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	I	249;233	ENSP00000256509:R249I;ENSP00000380628:R233I	ENSP00000256509:R249I	R	+	2	0	CHL1	361290	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	8.485000	0.90448	2.571000	0.86741	0.650000	0.86243	AGA		0.368	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	425551	425551	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:425551A>C	ENST00000256509.2	+	19	2871	c.2229A>C	c.(2227-2229)gaA>gaC	p.E743D	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.E727D	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E743D(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACCCAAGGAAATGATTATAA	0.348																																					p.E743D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2229C	3						.						148.0	148.0	148.0					3																	425551		2203	4299	6502	400551	SO:0001583	missense	10752	exon19			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2229A>C	3.37:g.425551A>C	ENSP00000256509:p.Glu743Asp		400551	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.349314	0.24426	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.57752	0.38;0.38	4.67	2.24	0.28232	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	L	0.31371	0.925	0.42077	D	0.991231	P;P;D	0.63046	0.637;0.507;0.992	B;B;D	0.67900	0.303;0.205;0.954	T	0.50915	-0.8771	10	0.56958	D	0.05	.	4.8579	0.13568	0.6141:0.1482:0.2376:0.0	.	727;727;743	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	D	743;727	ENSP00000256509:E743D;ENSP00000380628:E727D	ENSP00000256509:E743D	E	+	3	2	CHL1	400551	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	1.390000	0.34464	0.252000	0.21531	-0.381000	0.06696	GAA		0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CHL1	10752	broad.mit.edu	37	3	447193	447193	+	Missense_Mutation	SNP	G	G	T	rs572672771		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:447193G>T	ENST00000256509.2	+	28	4116	c.3474G>T	c.(3472-3474)aaG>aaT	p.K1158N	CHL1_ENST00000397491.2_Missense_Mutation_p.K1142N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	524					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K1158N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTGATGAAAAGCCTCTCAAAG	0.383																																					p.K1158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3474T	3						.						62.0	60.0	61.0					3																	447193		2203	4300	6503	422193	SO:0001583	missense	10752	exon28			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3474G>T	3.37:g.447193G>T	ENSP00000256509:p.Lys1158Asn		422193	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.803708|3.803708	0.70682|0.70682	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	D;D|.	0.86562|.	-2.14;-2.14|.	5.72|5.72	-4.46|-4.46	0.03536|0.03536	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79563|0.79563	0.4467|0.4467	M|M	0.86420|0.86420	2.815|2.815	0.49582|0.49582	D|D	0.9998|0.9998	D;D|.	0.89917|.	0.978;1.0|.	P;D|.	0.91635|.	0.895;0.999|.	T|T	0.81450|0.81450	-0.0927|-0.0927	10|5	0.87932|.	D|.	0|.	.|.	17.6281|17.6281	0.88098|0.88098	0.3322:0.0:0.6678:0.0|0.3322:0.0:0.6678:0.0	.|.	1142;1158|.	O00533;O00533-2|.	CHL1_HUMAN;.|.	N|I	1158;1142|292	ENSP00000256509:K1158N;ENSP00000380628:K1142N|.	ENSP00000256509:K1158N|.	K|S	+|+	3|2	2|0	CHL1|CHL1	422193|422193	0.915000|0.915000	0.31059|0.31059	0.841000|0.841000	0.33234|0.33234	0.988000|0.988000	0.76386|0.76386	0.016000|0.016000	0.13377|0.13377	-1.172000|-1.172000	0.02762|0.02762	-0.294000|-0.294000	0.09567|0.09567	AAG|AGC		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
CNTN4	152330	broad.mit.edu	37	3	3080651	3080651	+	Silent	SNP	C	C	T	rs568318866	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3080651C>T	ENST00000397461.1	+	18	2511	c.2127C>T	c.(2125-2127)ggC>ggT	p.G709G	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.G381G|CNTN4_ENST00000448906.2_Silent_p.G381G|CNTN4_ENST00000358480.3_Silent_p.G490G|CNTN4_ENST00000418658.1_Silent_p.G709G|CNTN4_ENST00000427331.1_Silent_p.G709G	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	709	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G709G(1)|p.G381G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGTGGTGGCGGAGGCAGCA	0.468													C|||	3	0.000599042	0.0	0.0	5008	,	,		20282	0.0		0.0	False		,,,				2504	0.0031				p.G381G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1143T	3						.						100.0	95.0	97.0					3																	3080651		2203	4300	6503	3055651	SO:0001819	synonymous_variant	152330	exon10			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2127C>T	3.37:g.3080651C>T			3055651	NM_175613	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	CCDS43041.1																																																																																				0.468	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CNTN4	152330	broad.mit.edu	37	3	3084058	3084058	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3084058C>A	ENST00000397461.1	+	20	2847	c.2463C>A	c.(2461-2463)ttC>ttA	p.F821L	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.F493L|CNTN4_ENST00000448906.2_Missense_Mutation_p.F493L|CNTN4_ENST00000358480.3_Missense_Mutation_p.F602L|CNTN4_ENST00000418658.1_Missense_Mutation_p.F821L|CNTN4_ENST00000427331.1_Missense_Mutation_p.F821L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	821	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.F821L(1)|p.F493L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTGAAGTTTTCTGGGCCTCCC	0.443																																					p.F493L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1479A	3						.						104.0	99.0	101.0					3																	3084058		2203	4300	6503	3059058	SO:0001583	missense	152330	exon12			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2463C>A	3.37:g.3084058C>A	ENSP00000380602:p.Phe821Leu		3059058	NM_175613	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939682	0.34189	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	5.61	4.73	0.59995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.508110	0.21769	N	0.069384	T	0.33876	0.0878	N	0.22421	0.69	0.35285	D	0.781702	B;B	0.20368	0.004;0.044	B;B	0.19946	0.016;0.027	T	0.35450	-0.9788	10	0.18276	T	0.48	.	7.0687	0.25167	0.0:0.6745:0.1331:0.1924	.	820;821	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	821;821;821;602;493;493	ENSP00000396010:F821L;ENSP00000380602:F821L;ENSP00000413642:F821L;ENSP00000351267:F602L;ENSP00000380600:F493L;ENSP00000392077:F493L	ENSP00000351267:F602L	F	+	3	2	CNTN4	3059058	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	1.036000	0.30228	1.503000	0.48686	0.655000	0.94253	TTC		0.443	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
CNTN4	152330	broad.mit.edu	37	3	3097904	3097904	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3097904A>G	ENST00000397461.1	+	24	3465	c.3081A>G	c.(3079-3081)tgA>tgG	p.*1027W	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Nonstop_Mutation_p.*699W|CNTN4_ENST00000448906.2_Nonstop_Mutation_p.*699W|CNTN4_ENST00000358480.3_Nonstop_Mutation_p.*808W|CNTN4_ENST00000418658.1_Nonstop_Mutation_p.*1027W|CNTN4_ENST00000427331.1_Nonstop_Mutation_p.*1027W	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	0					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.*699W(1)|p.*1027W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAGTTTATGACAAAAGTTAT	0.398																																					p.X699W												.	.	2	Nonstop extension(2)	large_intestine(2)	c.A2097G	3						.						103.0	92.0	95.0					3																	3097904		2203	4300	6503	3072904	SO:0001578	stop_lost	152330	exon16			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.3081A>G	3.37:g.3097904A>G	ENSP00000380602:p.*1027Trpext*16		3072904	NM_175613	B2RAX3|Q8IX14|Q8TC35	Nonstop_Mutation	SNP	ENST00000397461.1	37	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813180	0.50527	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6012	0.76626	1.0:0.0:0.0:0.0	.	.	.	.	W	1027;1027;1027;808;699;699	.	.	X	+	3	0	CNTN4	3072904	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	8.167000	0.89668	2.094000	0.63399	0.482000	0.46254	TGA		0.398	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
IL5RA	3568	broad.mit.edu	37	3	3144448	3144448	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3144448G>T	ENST00000446632.2	-	4	713	c.139C>A	c.(139-141)Ctt>Att	p.L47I	SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000383846.1_Missense_Mutation_p.L47I|IL5RA_ENST00000418488.2_Missense_Mutation_p.L47I|IL5RA_ENST00000456302.1_Missense_Mutation_p.L47I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L47I|IL5RA_ENST00000445864.2_Missense_Mutation_p.L47I|IL5RA_ENST00000438560.1_Missense_Mutation_p.L47I|IL5RA_ENST00000311981.8_Missense_Mutation_p.L47I|IL5RA_ENST00000430514.2_Missense_Mutation_p.L47I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	47	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L47I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CATTGTAAAAGAACTTGAGCC	0.343																																					p.L47I	GBM(169;430 2801 24955 28528)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C139A	3						.						92.0	90.0	91.0					3																	3144448		2203	4300	6503	3119448	SO:0001583	missense	3568	exon5			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.139C>A	3.37:g.3144448G>T	ENSP00000412209:p.Leu47Ile		3119448	NM_000564	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267916	0.40095	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	T;T;T;D;D;T;T;T;T;D;T	0.98362	0.92;0.92;0.92;-4.89;-4.89;0.92;0.92;0.92;0.92;-4.89;0.92	4.8	3.9	0.45041	Immunoglobulin-like fold (1);	0.113095	0.39909	N	0.001221	D	0.96479	0.8851	L	0.58669	1.825	0.34122	D	0.664254	P;P;P;B;P;P	0.40660	0.7;0.585;0.585;0.449;0.663;0.726	B;B;B;B;B;B	0.41202	0.106;0.215;0.215;0.106;0.35;0.26	D	0.96934	0.9683	10	0.21540	T	0.41	-14.2468	12.2029	0.54337	0.0:0.1723:0.8277:0.0	.	47;47;47;47;47;47	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	I	47	ENSP00000412209:L47I;ENSP00000390753:L47I;ENSP00000256452:L47I;ENSP00000388858:L47I;ENSP00000402598:L47I;ENSP00000373358:L47I;ENSP00000309196:L47I;ENSP00000400400:L47I;ENSP00000392059:L47I;ENSP00000398117:L47I;ENSP00000391274:L47I	ENSP00000256452:L47I	L	-	1	0	IL5RA	3119448	1.000000	0.71417	0.245000	0.24217	0.913000	0.54294	3.231000	0.51294	1.086000	0.41228	0.557000	0.71058	CTT		0.343	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
TRNT1	51095	broad.mit.edu	37	3	3189809	3189809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3189809G>T	ENST00000251607.6	+	8	1378	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	TRNT1_ENST00000280591.6_Nonsense_Mutation_p.E406*	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	426					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)	p.E426*(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		GGAAAAAGATGAACTTCTGAG	0.378																																					p.E426X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1276T	3						.						51.0	54.0	53.0					3																	3189809		2203	4299	6502	3164809	SO:0001587	stop_gained	51095	exon8			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1276G>T	3.37:g.3189809G>T	ENSP00000251607:p.Glu426*		3164809	NM_182916	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Nonsense_Mutation	SNP	ENST00000251607.6	37	CCDS2561.2	.	.	.	.	.	.	.	.	.	.	G	37	6.349503	0.97494	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-5.1073	18.4335	0.90634	0.0:0.0:1.0:0.0	.	.	.	.	X	426;406	.	ENSP00000251607:E426X	E	+	1	0	TRNT1	3164809	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	9.073000	0.93992	2.430000	0.82344	0.655000	0.94253	GAA		0.378	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1		
CRBN	51185	broad.mit.edu	37	3	3215804	3215804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3215804C>A	ENST00000231948.4	-	3	338	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	CRBN_ENST00000432408.2_Nonsense_Mutation_p.E105*	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	106	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)	p.E106*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	ATACTGACTTCTTGAGGGTGA	0.418																																					p.E105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G313T	3						.						97.0	99.0	98.0					3																	3215804		2203	4300	6503	3190804	SO:0001587	stop_gained	51185	exon3			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.316G>T	3.37:g.3215804C>A	ENSP00000231948:p.Glu106*		3190804	NM_001173482	B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Nonsense_Mutation	SNP	ENST00000231948.4	37	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.269964|7.269964	0.98175|0.98175	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79862	.|0.4519	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77720	.|-0.2482	.|3	0.27082|.	T|.	0.32|.	-30.7803|-30.7803	19.9479|19.9479	0.97190|0.97190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	106;105;43|101	.|.	ENSP00000231948:E106X|.	E|K	-|-	1|3	0|2	CRBN|CRBN	3190804|3190804	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.972000|0.972000	0.66771|0.66771	5.913000|5.913000	0.69957|0.69957	2.704000|2.704000	0.92352|0.92352	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.418	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302	
LRRN1	57633	broad.mit.edu	37	3	3887235	3887235	+	Missense_Mutation	SNP	G	G	A	rs561448571		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:3887235G>A	ENST00000319331.3	+	2	1671	c.910G>A	c.(910-912)Gac>Aac	p.D304N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	304						integral component of membrane (GO:0016021)		p.D304N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CGTTTCTGTCGACCGCTATGC	0.463																																					p.D304N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G910A	3						.						64.0	67.0	66.0					3																	3887235		2203	4300	6503	3862235	SO:0001583	missense	57633	exon2			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.910G>A	3.37:g.3887235G>A	ENSP00000314901:p.Asp304Asn		3862235	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051610	0.93793	.	.	ENSG00000175928	ENST00000319331	T	0.24908	1.83	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.58669	1.825	0.80722	D	1	D	0.69078	0.997	P	0.53861	0.736	T	0.05451	-1.0884	10	0.32370	T	0.25	.	19.5917	0.95518	0.0:0.0:1.0:0.0	.	304	Q6UXK5	LRRN1_HUMAN	N	304	ENSP00000314901:D304N	ENSP00000314901:D304N	D	+	1	0	LRRN1	3862235	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.782000	0.99034	2.614000	0.88457	0.650000	0.86243	GAC		0.463	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
SETMAR	6419	broad.mit.edu	37	3	4355431	4355431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4355431C>T	ENST00000358065.4	+	2	1073	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Nonsense_Mutation_p.R336*|SETMAR_ENST00000425863.1_Nonsense_Mutation_p.R197*	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	336	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)	p.R323*(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CTCCTGCAAGCGATTGACCCT	0.502								Chromatin Structure																													p.R336X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1006T	3						.						104.0	96.0	99.0					3																	4355431		2203	4300	6503	4330431	SO:0001587	stop_gained	6419	exon2			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1006C>T	3.37:g.4355431C>T	ENSP00000373354:p.Arg336*		4330431	NM_006515	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Nonsense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282235	0.59867	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863;ENST00000358950	.	.	.	3.21	0.127	0.14727	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5526	0.07853	0.4287:0.4357:0.0:0.1355	.	.	.	.	X	336;336;197;100	.	ENSP00000373354:R336X	R	+	1	2	SETMAR	4330431	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.450000	0.06803	0.001000	0.14605	-0.182000	0.12963	CGA		0.502	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515	
ITPR1	3708	broad.mit.edu	37	3	4699844	4699844	+	Missense_Mutation	SNP	C	C	T	rs369055445		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4699844C>T	ENST00000443694.2	+	10	988	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	ITPR1_ENST00000357086.4_Missense_Mutation_p.R345W|ITPR1_ENST00000423119.2_Missense_Mutation_p.R345W|ITPR1_ENST00000456211.2_Missense_Mutation_p.R330W|ITPR1_ENST00000302640.8_Missense_Mutation_p.R330W|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R345W			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	345	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R330W(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAGTAGGTTGCGGAATGCCCA	0.498																																					p.R345W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	3						.						162.0	164.0	163.0					3																	4699844		1999	4157	6156	4674844	SO:0001583	missense	3708	exon13			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.988C>T	3.37:g.4699844C>T	ENSP00000401671:p.Arg330Trp		4674844	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675493	0.67928	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.19	4.29	0.51040	MIR motif (2);MIR (2);	0.063262	0.64402	D	0.000004	D	0.86112	0.5855	M	0.68317	2.08	0.80722	D	1	B;B;B	0.22604	0.072;0.017;0.025	B;B;B	0.24269	0.052;0.027;0.02	D	0.83673	0.0167	10	0.62326	D	0.03	.	14.2884	0.66260	0.1546:0.8454:0.0:0.0	.	330;345;345	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	W	345;330;345;345;345;330;330	ENSP00000306253:R330W;ENSP00000346595:R345W;ENSP00000405934:R345W;ENSP00000349597:R345W;ENSP00000397885:R330W;ENSP00000401671:R330W	ENSP00000306253:R330W	R	+	1	2	ITPR1	4674844	1.000000	0.71417	0.894000	0.35097	0.573000	0.36030	2.851000	0.48302	1.121000	0.41925	0.655000	0.94253	CGG		0.498	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4735223	4735223	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4735223C>A	ENST00000443694.2	+	30	4034	c.4034C>A	c.(4033-4035)tCt>tAt	p.S1345Y	ITPR1_ENST00000354582.6_Missense_Mutation_p.S1360Y|ITPR1_ENST00000456211.2_Missense_Mutation_p.S1336Y|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.S1351Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.S1351Y|ITPR1_ENST00000302640.8_Missense_Mutation_p.S1345Y			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1360					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.S1336Y(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GACAGAGCCTCTTTCCAGACT	0.527																																					p.S1351Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4052A	3						.						203.0	197.0	199.0					3																	4735223		2009	4196	6205	4710223	SO:0001583	missense	3708	exon33			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4034C>A	3.37:g.4735223C>A	ENSP00000401671:p.Ser1345Tyr		4710223	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728170	0.89390	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	4.97	4.97	0.65823	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98628	1.0670	10	0.62326	D	0.03	.	18.238	0.89956	0.0:1.0:0.0:0.0	.	1360;1351	Q14643;G5E9P1	ITPR1_HUMAN;.	Y	1360;1345;1360;1351;1351;1336;1345	ENSP00000306253:S1345Y;ENSP00000346595:S1360Y;ENSP00000405934:S1351Y;ENSP00000349597:S1351Y;ENSP00000397885:S1336Y;ENSP00000401671:S1345Y	ENSP00000306253:S1345Y	S	+	2	0	ITPR1	4710223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.288000	0.76882	0.591000	0.81541	TCT		0.527	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4808230	4808230	+	Missense_Mutation	SNP	G	G	A	rs375517463		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4808230G>A	ENST00000443694.2	+	42	5516	c.5516G>A	c.(5515-5517)cGc>cAc	p.R1839H	ITPR1_ENST00000354582.6_Missense_Mutation_p.R1839H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1791H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1806H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1806H|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1839H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1854					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1791H(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTTTCTGTCGCTTGACAGAA	0.423																																					p.R1806H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5417A	3						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,3786		0,0,1893	72.0	72.0	72.0		5417,5516,5372	5.7	1.0	3		72	1,8237		0,1,4118	no	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	29,29,29	0,1,6011	AA,AG,GG		0.0121,0.0,0.0083	benign,benign,benign	1806/2711,1839/2744,1791/2696	4808230	1,12023	1893	4119	6012	4783230	SO:0001583	missense	3708	exon42			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5516G>A	3.37:g.4808230G>A	ENSP00000401671:p.Arg1839His		4783230	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037182	0.93630	0.0	1.21E-4	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	L	0.58810	1.83	0.80722	D	1	B;D	0.65815	0.175;0.995	B;P	0.59288	0.015;0.855	D	0.89878	0.4028	10	0.15952	T	0.53	.	19.7686	0.96352	0.0:0.0:1.0:0.0	.	1854;1806	Q14643;G5E9P1	ITPR1_HUMAN;.	H	1854;1839;1839;1806;300;1806;1791;1839	ENSP00000306253:R1839H;ENSP00000346595:R1839H;ENSP00000405934:R1806H;ENSP00000349597:R1806H;ENSP00000397885:R1791H;ENSP00000401671:R1839H	ENSP00000306253:R1839H	R	+	2	0	ITPR1	4783230	1.000000	0.71417	0.987000	0.45799	0.779000	0.44077	9.740000	0.98839	2.665000	0.90641	0.591000	0.81541	CGC		0.423	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4817094	4817094	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4817094G>A	ENST00000443694.2	+	44	6103	c.6103G>A	c.(6103-6105)Gaa>Aaa	p.E2035K	ITPR1_ENST00000354582.6_Missense_Mutation_p.E2035K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1987K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2002K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2002K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2035K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2050					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E1987K(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAGTCTGACCGAATACTGTCA	0.413																																					p.E2002K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6004A	3						.						103.0	100.0	101.0					3																	4817094		1857	4089	5946	4792094	SO:0001583	missense	3708	exon44			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6103G>A	3.37:g.4817094G>A	ENSP00000401671:p.Glu2035Lys		4792094	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836901	0.91117	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	5.04	5.04	0.67666	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99659	1.0993	10	0.87932	D	0	.	18.4209	0.90590	0.0:0.0:1.0:0.0	.	2050;2002	Q14643;G5E9P1	ITPR1_HUMAN;.	K	2050;2035;2035;2002;496;2002;1987;2035	ENSP00000306253:E2035K;ENSP00000346595:E2035K;ENSP00000405934:E2002K;ENSP00000349597:E2002K;ENSP00000397885:E1987K;ENSP00000401671:E2035K	ENSP00000306253:E2035K	E	+	1	0	ITPR1	4792094	1.000000	0.71417	0.700000	0.30305	0.489000	0.33432	9.772000	0.98984	2.349000	0.79799	0.655000	0.94253	GAA		0.413	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4854834	4854834	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4854834G>A	ENST00000443694.2	+	54	7432	c.7432G>A	c.(7432-7434)Gag>Aag	p.E2478K	ITPR1_ENST00000302640.8_Missense_Mutation_p.E2478K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2478K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2430K|ITPR1_ENST00000544951.1_Missense_Mutation_p.E456K|AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2445K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2445K|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2493	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E2430K(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGAAACCGGCGAGAGTTTGGC	0.478																																					p.E2445K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7333A	3						.						113.0	110.0	111.0					3																	4854834		1856	4099	5955	4829834	SO:0001583	missense	3708	exon54			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7432G>A	3.37:g.4854834G>A	ENSP00000401671:p.Glu2478Lys		4829834	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775227	0.31411	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97328	-2.73;-2.72;-2.72;-2.72;-2.72;-4.34;-2.73	5.02	5.02	0.67125	Ion transport (1);	1.046670	0.07417	N	0.893435	D	0.91523	0.7323	N	0.14661	0.345	0.42268	D	0.992046	P;B;B	0.39601	0.68;0.0;0.0	B;B;B	0.30855	0.121;0.002;0.001	D	0.84319	0.0515	10	0.06365	T	0.9	.	15.5011	0.75700	0.0:0.0:1.0:0.0	.	456;2493;2445	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	K	2493;2478;2478;2445;939;2445;2430;456;2478	ENSP00000306253:E2478K;ENSP00000346595:E2478K;ENSP00000405934:E2445K;ENSP00000349597:E2445K;ENSP00000397885:E2430K;ENSP00000440564:E456K;ENSP00000401671:E2478K	ENSP00000306253:E2478K	E	+	1	0	ITPR1	4829834	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.603000	0.82811	2.324000	0.78689	0.557000	0.71058	GAG		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4856740	4856740	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:4856740C>T	ENST00000443694.2	+	56	7660	c.7660C>T	c.(7660-7662)Ccc>Tcc	p.P2554S	ITPR1_ENST00000302640.8_Missense_Mutation_p.P2554S|ITPR1_ENST00000354582.6_Missense_Mutation_p.P2554S|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.P2506S|ITPR1_ENST00000544951.1_Missense_Mutation_p.P532S|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.P2521S|ITPR1_ENST00000357086.4_Missense_Mutation_p.P2521S|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2569					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.P2506S(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTCCAGGAACCCCTGTTTGC	0.478																																					p.P2521S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7561T	3						.						214.0	208.0	210.0					3																	4856740		1935	4161	6096	4831740	SO:0001583	missense	3708	exon56			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7660C>T	3.37:g.4856740C>T	ENSP00000401671:p.Pro2554Ser		4831740	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.922129	0.33908	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.59	4.59	0.56863	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	N	0.17312	0.475	0.80722	D	1	B;B;B	0.24963	0.115;0.019;0.003	B;B;B	0.41174	0.349;0.047;0.037	D	0.94254	0.7496	10	0.22109	T	0.4	.	17.415	0.87497	0.0:1.0:0.0:0.0	.	532;2569;2521	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	S	2569;2554;2554;2521;1015;2521;2506;532;2554	ENSP00000306253:P2554S;ENSP00000346595:P2554S;ENSP00000405934:P2521S;ENSP00000349597:P2521S;ENSP00000397885:P2506S;ENSP00000440564:P532S;ENSP00000401671:P2554S	ENSP00000306253:P2554S	P	+	1	0	ITPR1	4831740	1.000000	0.71417	0.935000	0.37517	0.648000	0.38561	6.027000	0.70881	2.100000	0.63781	0.467000	0.42956	CCC		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
EDEM1	9695	broad.mit.edu	37	3	5246800	5246800	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:5246800G>A	ENST00000256497.4	+	6	1224	c.1091G>A	c.(1090-1092)gGc>gAc	p.G364D	EDEM1_ENST00000445686.1_Missense_Mutation_p.G169D	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	364					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.G364D(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AAGCAGAGTGGCCTGGGTGCC	0.478																																					p.G364D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091A	3						.						100.0	108.0	105.0					3																	5246800		2203	4300	6503	5221800	SO:0001583	missense	9695	exon6			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1091G>A	3.37:g.5246800G>A	ENSP00000256497:p.Gly364Asp		5221800	NM_014674	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105056	0.94245	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.73258	-0.73;-0.73	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.993	D	0.92871	0.6314	10	0.87932	D	0	-28.8111	19.1187	0.93353	0.0:0.0:1.0:0.0	.	169;364;142	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	D	142;364;169	ENSP00000256497:G364D;ENSP00000394099:G169D	ENSP00000256497:G364D	G	+	2	0	EDEM1	5221800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.507000	0.97996	2.501000	0.84356	0.650000	0.86243	GGC		0.478	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
EDEM1	9695	broad.mit.edu	37	3	5251868	5251868	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:5251868G>T	ENST00000256497.4	+	9	1651	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	EDEM1_ENST00000445686.1_Missense_Mutation_p.K311N	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	506					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)	p.K506N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		AGGCAACCAAGAATCCCTTCT	0.468																																					p.K506N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1518T	3						.						137.0	122.0	127.0					3																	5251868		2203	4300	6503	5226868	SO:0001583	missense	9695	exon9			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1518G>T	3.37:g.5251868G>T	ENSP00000256497:p.Lys506Asn		5226868	NM_014674	A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610508	0.87258	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.73047	-0.71;-0.71	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	M	0.68317	2.08	0.80722	D	1	D	0.56287	0.975	P	0.53722	0.733	T	0.79855	-0.1627	10	0.48119	T	0.1	-33.7722	19.1123	0.93321	0.0:0.0:1.0:0.0	.	506	Q92611	EDEM1_HUMAN	N	506;311	ENSP00000256497:K506N;ENSP00000394099:K311N	ENSP00000256497:K506N	K	+	3	2	EDEM1	5226868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.516000	0.84829	0.655000	0.94253	AAG		0.468	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674	
GRM7	2917	broad.mit.edu	37	3	6903441	6903441	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:6903441C>T	ENST00000357716.4	+	1	640	c.366C>T	c.(364-366)ttC>ttT	p.F122F	GRM7_ENST00000486284.1_Silent_p.F122F|GRM7_ENST00000389336.4_Silent_p.F122F|GRM7_ENST00000402647.2_Silent_p.F122F|GRM7_ENST00000403881.1_Silent_p.F122F	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	122					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.F122L(1)|p.F122F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CGCTTACTTTCGTCCAGGCGC	0.592																																					p.F122F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	c.C366T	3						.						70.0	67.0	68.0					3																	6903441		2203	4300	6503	6878441	SO:0001819	synonymous_variant	2917	exon1			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.366C>T	3.37:g.6903441C>T			6878441	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	CCDS43042.1																																																																																				0.592	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
GRM7	2917	broad.mit.edu	37	3	7494314	7494314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:7494314G>T	ENST00000357716.4	+	6	1469	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	GRM7_ENST00000486284.1_Missense_Mutation_p.D399Y|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y|GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	399					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.D399Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AATTGGAAAAGATTCCAACTA	0.433																																					p.D399Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1195T	3						.						115.0	102.0	106.0					3																	7494314		2203	4300	6503	7469314	SO:0001583	missense	2917	exon6			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1195G>T	3.37:g.7494314G>T	ENSP00000350348:p.Asp399Tyr		7469314	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153259	0.78114	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.049461	0.85682	D	0.000000	D	0.91546	0.7330	M	0.87269	2.87	0.58432	D	0.999997	D;D;P	0.69078	0.997;0.997;0.794	D;D;P	0.70487	0.948;0.969;0.577	D	0.88668	0.3193	10	0.16896	T	0.51	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	399;399;399	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	Y	399;399;399;399;399;399;399;56	ENSP00000350348:D399Y;ENSP00000417536:D399Y;ENSP00000373987:D399Y;ENSP00000385664:D399Y;ENSP00000384585:D399Y;ENSP00000395035:D56Y	ENSP00000350348:D399Y	D	+	1	0	GRM7	7469314	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.961000	0.87903	2.782000	0.95742	0.655000	0.94253	GAT		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
GRM7	2917	broad.mit.edu	37	3	7494394	7494394	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:7494394G>T	ENST00000357716.4	+	6	1549	c.1275G>T	c.(1273-1275)atG>atT	p.M425I	GRM7_ENST00000486284.1_Missense_Mutation_p.M425I|GRM7_ENST00000389336.4_Missense_Mutation_p.M425I|GRM7_ENST00000402647.2_Missense_Mutation_p.M425I|GRM7_ENST00000403881.1_Missense_Mutation_p.M425I|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	425					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.M425I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCACCACATGAACAAGGATC	0.478																																					p.M425I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1275T	3						.						106.0	88.0	94.0					3																	7494394		2203	4300	6503	7469394	SO:0001583	missense	2917	exon6			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1275G>T	3.37:g.7494394G>T	ENSP00000350348:p.Met425Ile		7469394	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237716	0.79800	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89143	0.6631	M	0.73372	2.23	0.80722	D	1	P;D;P;P	0.54964	0.656;0.969;0.925;0.69	P;D;D;B	0.70227	0.679;0.968;0.954;0.379	D	0.87634	0.2518	10	0.42905	T	0.14	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	425;180;425;425	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	I	425;425;425;425;425;425;425;82	ENSP00000350348:M425I;ENSP00000417536:M425I;ENSP00000373987:M425I;ENSP00000385664:M425I;ENSP00000384585:M425I;ENSP00000395035:M82I	ENSP00000350348:M425I	M	+	3	0	GRM7	7469394	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.876000	0.87215	2.782000	0.95742	0.655000	0.94253	ATG		0.478	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
OXTR	5021	broad.mit.edu	37	3	8809060	8809060	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:8809060G>A	ENST00000316793.3	-	3	1438	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	272					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.R272C(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TTGACCGTGCGGATCTTGGCC	0.662																																					p.R272C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814T	3						.						40.0	34.0	36.0					3																	8809060		2203	4300	6503	8784060	SO:0001583	missense	5021	exon3				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.814C>T	3.37:g.8809060G>A	ENSP00000324270:p.Arg272Cys		8784060	NM_000916	Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965737	0.74131	.	.	ENSG00000180914	ENST00000316793	T	0.45276	0.9	4.97	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.185322	0.46758	D	0.000272	T	0.71056	0.3295	M	0.93507	3.425	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.78119	-0.2328	10	0.87932	D	0	-35.1524	11.7867	0.52047	0.0:0.0:0.6812:0.3188	.	272	P30559	OXYR_HUMAN	C	272	ENSP00000324270:R272C	ENSP00000324270:R272C	R	-	1	0	OXTR	8784060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.825000	0.62708	1.212000	0.43366	-0.310000	0.09108	CGC		0.662	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2		
RAD18	56852	broad.mit.edu	37	3	8983425	8983425	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:8983425C>A	ENST00000264926.2	-	5	446	c.330G>T	c.(328-330)aaG>aaT	p.K110N	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	110					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)	p.K110N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CAGCAAGATTCTTTGAAGAGG	0.408								Rad6 pathway																													p.K110N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	3						.						108.0	111.0	110.0					3																	8983425		2203	4300	6503	8958425	SO:0001583	missense	56852	exon5				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.330G>T	3.37:g.8983425C>A	ENSP00000264926:p.Lys110Asn		8958425	NM_020165	Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121191	0.20877	.	.	ENSG00000070950	ENST00000264926	T	0.25579	1.79	4.86	3.09	0.35607	.	0.072270	0.52532	D	0.000070	T	0.30103	0.0754	M	0.63428	1.95	0.28598	N	0.909302	D	0.54047	0.964	P	0.50136	0.632	T	0.10894	-1.0610	10	0.25751	T	0.34	-19.1887	7.3758	0.26827	0.0:0.805:0.0:0.195	.	110	Q9NS91	RAD18_HUMAN	N	110	ENSP00000264926:K110N	ENSP00000264926:K110N	K	-	3	2	RAD18	8958425	0.180000	0.23148	0.838000	0.33150	0.085000	0.17905	-0.005000	0.12855	0.654000	0.30846	-0.140000	0.14226	AAG		0.408	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165	
SRGAP3	9901	broad.mit.edu	37	3	9034706	9034706	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9034706C>A	ENST00000383836.3	-	20	2869	c.2442G>T	c.(2440-2442)aaG>aaT	p.K814N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.K790N	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	814					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K814N(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCTGTCAGCCTTCTGGCTCA	0.572			T	RAF1	pilocytic astrocytoma																																p.K814N			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2442T	3						.						70.0	60.0	64.0					3																	9034706		2203	4300	6503	9009706	SO:0001583	missense	9901	exon20			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2442G>T	3.37:g.9034706C>A	ENSP00000373347:p.Lys814Asn		9009706	NM_014850	Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270334	0.59540	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.28454	1.61;2.03	5.41	4.53	0.55603	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	L	0.57536	1.79	0.58432	D	0.999995	D;D	0.61080	0.989;0.981	D;D	0.72625	0.978;0.95	T	0.39921	-0.9590	10	0.44086	T	0.13	.	10.0032	0.41942	0.0:0.8439:0.0:0.1561	.	790;814	O43295-2;O43295	.;SRGP2_HUMAN	N	814;790	ENSP00000373347:K814N;ENSP00000353587:K790N	ENSP00000353587:K790N	K	-	3	2	SRGAP3	9009706	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.606000	0.24194	1.268000	0.44264	0.591000	0.81541	AAG		0.572	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
SRGAP3	9901	broad.mit.edu	37	3	9055525	9055525	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9055525T>C	ENST00000383836.3	-	16	2242	c.1815A>G	c.(1813-1815)aaA>aaG	p.K605K	SRGAP3_ENST00000360413.3_Splice_Site_p.K581K|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	605	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K605K(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGTTCTCCAGTTCTGTAACAT	0.522			T	RAF1	pilocytic astrocytoma																																p.K605K			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1815G	3						.						103.0	99.0	100.0					3																	9055525		2203	4300	6503	9030525	SO:0001630	splice_region_variant	9901	exon16			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1814-1A>G	3.37:g.9055525T>C			9030525	NM_014850	Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	CCDS2572.1																																																																																				0.522	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		Silent
THUMPD3	25917	broad.mit.edu	37	3	9412979	9412979	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9412979A>C	ENST00000345094.3	+	4	900	c.566A>C	c.(565-567)gAa>gCa	p.E189A	THUMPD3_ENST00000515662.2_Missense_Mutation_p.E189A|THUMPD3_ENST00000452837.2_Missense_Mutation_p.E189A|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	189	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.E189A(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GATTATTATGAAAATCCAGCC	0.338																																					p.E189A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A566C	3						.						68.0	73.0	71.0					3																	9412979		2203	4300	6503	9387979	SO:0001583	missense	25917	exon4			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.566A>C	3.37:g.9412979A>C	ENSP00000339532:p.Glu189Ala		9387979	NM_015453	Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.18|16.18|16.18	3.051531|3.051531|3.051531	0.55218|0.55218|0.55218	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127|ENST00000416603	T;T;T|.|.	0.50001|.|.	0.76;0.76;0.76|.|.	5.94|5.94|5.94	5.94|5.94|5.94	0.96194|0.96194|0.96194	THUMP (2);|.|.	0.407546|.|.	0.30519|.|.	N|.|.	0.009454|.|.	T|T|.	0.71542|0.71542|.	0.3352|0.3352|.	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.48511|0.48511|0.48511	D|D|D	0.99966|0.99966|0.99966	B|.|.	0.15473|.|.	0.013|.|.	B|.|.	0.12156|.|.	0.007|.|.	T|T|.	0.70281|0.70281|.	-0.4915|-0.4915|.	10|5|.	0.27785|.|.	T|.|.	0.31|.|.	-14.8037|-14.8037|-14.8037	15.3805|15.3805|15.3805	0.74651|0.74651|0.74651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	189|.|.	Q9BV44|.|.	THUM3_HUMAN|.|.	A|Q|C	189|46|21	ENSP00000395893:E189A;ENSP00000339532:E189A;ENSP00000424064:E189A|.|.	ENSP00000339532:E189A|.|.	E|K|X	+|+|+	2|1|3	0|0|0	THUMPD3|THUMPD3|THUMPD3	9387979|9387979|9387979	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.979000|0.979000|0.979000	0.70002|0.70002|0.70002	4.241000|4.241000|4.241000	0.58707|0.58707|0.58707	2.279000|2.279000|2.279000	0.76181|0.76181|0.76181	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	GAA|AAA|TGA		0.338	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	
SETD5	55209	broad.mit.edu	37	3	9482366	9482366	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9482366T>G	ENST00000406341.1	+	7	984	c.794T>G	c.(793-795)aTt>aGt	p.I265S	SETD5_ENST00000302463.6_Missense_Mutation_p.I167S|SETD5_ENST00000402198.1_Missense_Mutation_p.I265S|SETD5_ENST00000407969.1_Missense_Mutation_p.I284S|SETD5_ENST00000402466.1_Missense_Mutation_p.I167S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	265								p.I167S(1)|p.I265S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AACACAGTTATTGGTTCCCAA	0.398																																					p.I265S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T794G	3						.						57.0	53.0	54.0					3																	9482366		1842	4102	5944	9457366	SO:0001583	missense	55209	exon8			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.794T>G	3.37:g.9482366T>G	ENSP00000383939:p.Ile265Ser		9457366	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	t	24.0	4.477728	0.84640	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;0.72;-1.39	5.36	5.36	0.76844	.	0.146153	0.48767	D	0.000169	T	0.70474	0.3228	N	0.08118	0	0.42575	D	0.99319	P;P;B	0.51791	0.948;0.791;0.049	P;B;B	0.47528	0.549;0.198;0.032	T	0.75510	-0.3292	10	0.42905	T	0.14	-14.8735	15.6572	0.77150	0.0:0.0:0.0:1.0	.	167;265;284	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	S	265;167;265;284;154;167	ENSP00000385852:I265S;ENSP00000384429:I167S;ENSP00000383939:I265S;ENSP00000384114:I284S;ENSP00000408837:I154S;ENSP00000302028:I167S	ENSP00000302028:I167S	I	+	2	0	SETD5	9457366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	2.176000	0.68965	0.529000	0.55759	ATT		0.398	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
SETD5	55209	broad.mit.edu	37	3	9495466	9495466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9495466C>A	ENST00000406341.1	+	16	2580	c.2390C>A	c.(2389-2391)tCa>tAa	p.S797*	SETD5_ENST00000302463.6_Nonsense_Mutation_p.S699*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S797*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S816*|SETD5_ENST00000402466.1_Nonsense_Mutation_p.S699*			Q9C0A6	SETD5_HUMAN	SET domain containing 5	797								p.S699*(1)|p.S797*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACTCAAACATCATCTGTACCC	0.363																																					p.S797X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2390A	3						.						126.0	121.0	123.0					3																	9495466		1869	4101	5970	9470466	SO:0001587	stop_gained	55209	exon17			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2390C>A	3.37:g.9495466C>A	ENSP00000383939:p.Ser797*		9470466	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	46	12.789027	0.99696	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	5.52	5.52	0.82312	.	0.187589	0.37955	N	0.001866	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-1.3196	19.8024	0.96513	0.0:1.0:0.0:0.0	.	.	.	.	X	797;699;797;816;699	.	ENSP00000302028:S699X	S	+	2	0	SETD5	9470466	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.094000	0.57721	2.752000	0.94435	0.655000	0.94253	TCA		0.363	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
SETD5	55209	broad.mit.edu	37	3	9515110	9515110	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9515110A>C	ENST00000406341.1	+	19	3576	c.3386A>C	c.(3385-3387)aAa>aCa	p.K1129T	SETD5_ENST00000302463.6_Missense_Mutation_p.K1031T|SETD5_ENST00000402198.1_Missense_Mutation_p.K1129T|SETD5_ENST00000407969.1_Missense_Mutation_p.K1148T|SETD5_ENST00000402466.1_Missense_Mutation_p.K1031T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1129	Ser-rich.							p.K1129T(1)|p.K1031T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCTCACAAAAAATTCTCCCCA	0.527																																					p.K1129T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3386C	3						.						86.0	86.0	86.0					3																	9515110		1936	4152	6088	9490110	SO:0001583	missense	55209	exon20			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3386A>C	3.37:g.9515110A>C	ENSP00000383939:p.Lys1129Thr		9490110	NM_001080517	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.251|8.251	0.808975|0.808975	0.16537|0.16537	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000399686|ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	T|D;D;D;D;D	0.44083|0.91631	0.93|-2.56;-2.88;-2.56;-2.55;-2.88	6.07|6.07	4.94|4.94	0.65067|0.65067	.|.	0.329145|0.329145	0.34879|0.34879	N|N	0.003619|0.003619	T|T	0.78432|0.78432	0.4282|0.4282	N|N	0.08118|0.08118	0|0	0.29938|0.29938	N|N	0.821301|0.821301	.|B;B;B	.|0.30236	.|0.274;0.137;0.035	.|B;B;B	.|0.30179	.|0.112;0.085;0.027	T|T	0.69243|0.69243	-0.5196|-0.5196	8|10	0.20046|0.14656	T|T	0.44|0.56	-17.7231|-17.7231	3.4814|3.4814	0.07603|0.07603	0.6953:0.0:0.3047:0.0|0.6953:0.0:0.3047:0.0	.|.	.|798;1031;1129	.|B3KXG4;Q9C0A6-3;Q9C0A6	.|.;.;SETD5_HUMAN	N|T	796|1129;1031;1129;1148;1031	ENSP00000382593:K796N|ENSP00000385852:K1129T;ENSP00000384429:K1031T;ENSP00000383939:K1129T;ENSP00000384114:K1148T;ENSP00000302028:K1031T	ENSP00000382593:K796N|ENSP00000302028:K1031T	K|K	+|+	3|2	2|0	SETD5|SETD5	9490110|9490110	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	4.357000|4.357000	0.59436|0.59436	2.330000|2.330000	0.79161|0.79161	0.477000|0.477000	0.44152|0.44152	AAA|AAA		0.527	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614	
CPNE9	151835	broad.mit.edu	37	3	9754459	9754459	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9754459C>A	ENST00000383832.3	+	9	682	c.492C>A	c.(490-492)ttC>ttA	p.F164L	CPNE9_ENST00000383831.3_Missense_Mutation_p.F164L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	164	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F164L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AGAAGGACTTCTTTGGGAAAT	0.537																																					p.F164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C492A	3						.						125.0	137.0	133.0					3																	9754459		2183	4300	6483	9729459	SO:0001583	missense	151835	exon8				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.492C>A	3.37:g.9754459C>A	ENSP00000373343:p.Phe164Leu		9729459	NM_153635	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499418	0.44455	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.67865	-0.29;-0.29	5.15	5.15	0.70609	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	N	0.10809	0.05	0.58432	D	0.999999	B	0.11235	0.004	B	0.23150	0.044	T	0.44221	-0.9342	10	0.12103	T	0.63	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	164	Q8IYJ1	CPNE9_HUMAN	L	164	ENSP00000373343:F164L;ENSP00000373342:F164L	ENSP00000373342:F164L	F	+	3	2	CPNE9	9729459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.203000	0.42752	2.417000	0.82017	0.655000	0.94253	TTC		0.537	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	
BRPF1	7862	broad.mit.edu	37	3	9784841	9784841	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9784841C>T	ENST00000457855.1	+	6	2208	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	BRPF1_ENST00000433861.2_Missense_Mutation_p.R733W|BRPF1_ENST00000302054.3_Missense_Mutation_p.R733W|BRPF1_ENST00000383829.2_Missense_Mutation_p.R739W|BRPF1_ENST00000424362.1_Missense_Mutation_p.R733W			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	733	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R739W(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCGCCAGGCCCGGCGCCAGGC	0.592																																					p.R733W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2197T	3						.						65.0	57.0	60.0					3																	9784841		2203	4300	6503	9759841	SO:0001583	missense	7862	exon7			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2197C>T	3.37:g.9784841C>T	ENSP00000410210:p.Arg733Trp		9759841	NM_004634	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530456	0.64860	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.19938	2.13;2.11;3.5;2.11;2.11	6.07	4.22	0.49857	Bromodomain (3);	0.053785	0.64402	D	0.000001	T	0.48095	0.1481	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.992;0.997;0.986;0.969	T	0.52465	-0.8572	10	0.87932	D	0	.	13.3594	0.60646	0.1263:0.7524:0.1213:0.0	.	733;733;739;733	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	W	733;733;739;733;733	ENSP00000402485:R733W;ENSP00000398863:R733W;ENSP00000373340:R739W;ENSP00000306297:R733W;ENSP00000410210:R733W	ENSP00000306297:R733W	R	+	1	2	BRPF1	9759841	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.889000	0.63171	0.842000	0.35045	0.655000	0.94253	CGG		0.592	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
OGG1	4968	broad.mit.edu	37	3	9793482	9793482	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9793482C>T	ENST00000344629.7	+	3	757	c.414C>T	c.(412-414)atC>atT	p.I138I	OGG1_ENST00000349503.5_Silent_p.I138I|OGG1_ENST00000339511.5_Silent_p.I138I|OGG1_ENST00000302036.7_Silent_p.I138I|OGG1_ENST00000449570.2_Silent_p.I138I|OGG1_ENST00000302003.7_Silent_p.I138I|OGG1_ENST00000302008.8_Silent_p.I138I|OGG1_ENST00000383826.5_Silent_p.I138I			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	138					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)	p.I138I(1)		kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AAGACCCCATCGAATGCCTTT	0.572								Base excision repair (BER), DNA glycosylases																													p.I138I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C414T	3						.						218.0	201.0	207.0					3																	9793482		2203	4300	6503	9768482	SO:0001819	synonymous_variant	4968	exon3			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.414C>T	3.37:g.9793482C>T			9768482	NM_016828	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.127|8.127	0.782121|0.782121	0.16189|0.16189	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000352937|ENST00000441094;ENST00000426518	.|.	.|.	.|.	5.26|5.26	-4.76|-4.76	0.03229|0.03229	.|.	.|.	.|.	.|.	.|.	.|T	.|0.39600	.|0.1084	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36939	.|-0.9727	.|4	.|.	.|.	.|.	-2.6952|-2.6952	3.6214|3.6214	0.08097|0.08097	0.0784:0.2606:0.2438:0.4172|0.0784:0.2606:0.2438:0.4172	.|.	.|.	.|.	.|.	X|L	44|36;48	.|.	.|.	R|S	+|+	1|2	2|0	OGG1|OGG1	9768482|9768482	0.000000|0.000000	0.05858|0.05858	0.044000|0.044000	0.18714|0.18714	0.871000|0.871000	0.50021|0.50021	-3.799000|-3.799000	0.00363|0.00363	-0.857000|-0.857000	0.04115|0.04115	-0.471000|-0.471000	0.05019|0.05019	CGA|TCG		0.572	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821	
CAMK1	8536	broad.mit.edu	37	3	9801429	9801429	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9801429C>A	ENST00000256460.3	-	9	928	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.D251Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CGGATGAAATCTTTGGCTAAA	0.512																																					p.D251Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G751T	3						.						122.0	121.0	122.0					3																	9801429		2203	4300	6503	9776429	SO:0001583	missense	8536	exon9			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.751G>T	3.37:g.9801429C>A	ENSP00000256460:p.Asp251Tyr		9776429	NM_003656	Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	CCDS2582.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.660910|4.660910	0.88154|0.88154	.|.	.|.	ENSG00000134072|ENSG00000134072	ENST00000256460|ENST00000421120	T|.	0.50548|.	0.74|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87653|0.87653	0.6231|0.6231	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.74674|.	0.984;0.984|.	D|D	0.90470|0.90470	0.4452|0.4452	10|5	0.87932|.	D|.	0|.	-17.3687|-17.3687	19.4609|19.4609	0.94916|0.94916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	251;251|.	Q14012;B0YIY3|.	KCC1A_HUMAN;.|.	Y|I	251|97	ENSP00000256460:D251Y|.	ENSP00000256460:D251Y|.	D|R	-|-	1|2	0|0	CAMK1|CAMK1	9776429|9776429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.701000|7.701000	0.84566|0.84566	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.512	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
CAMK1	8536	broad.mit.edu	37	3	9803436	9803436	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9803436C>A	ENST00000256460.3	-	6	612	c.435G>T	c.(433-435)gaG>gaT	p.E145D	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.E145D(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		ACAGCAGATTCTCTGGCTTGA	0.532																																					p.E145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	3						.						57.0	57.0	57.0					3																	9803436		2203	4300	6503	9778436	SO:0001583	missense	8536	exon6			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.435G>T	3.37:g.9803436C>A	ENSP00000256460:p.Glu145Asp		9778436	NM_003656	Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244479	0.79912	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.69040	0.92;-0.37	4.58	3.68	0.42216	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	L	0.49778	1.585	0.80722	D	1	P	0.48589	0.912	D	0.65323	0.934	T	0.78137	-0.2321	10	0.87932	D	0	-27.6926	13.4815	0.61338	0.0:0.9194:0.0:0.0806	.	145	Q14012	KCC1A_HUMAN	D	145;101	ENSP00000256460:E145D;ENSP00000404587:E101D	ENSP00000256460:E145D	E	-	3	2	CAMK1	9778436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	2.255000	0.74692	0.655000	0.94253	GAG		0.532	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
TADA3	10474	broad.mit.edu	37	3	9828898	9828898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9828898C>A	ENST00000301964.2	-	5	1249	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	TADA3_ENST00000492635.1_5'Flank|TADA3_ENST00000343450.2_Nonsense_Mutation_p.E231*|TADA3_ENST00000440161.1_Nonsense_Mutation_p.E231*	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	231					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E231*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGTCCAGTTCGGTCAGTGGC	0.632											OREG0015382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E231X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G691T	3						.						106.0	113.0	111.0					3																	9828898		2203	4300	6503	9803898	SO:0001587	stop_gained	10474	exon5			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.691G>T	3.37:g.9828898C>A	ENSP00000307684:p.Glu231*	659	9803898	NM_133480	Q6FI83|Q9UFS2	Nonsense_Mutation	SNP	ENST00000301964.2	37	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	40	8.429532	0.98808	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-32.1564	19.557	0.95354	0.0:1.0:0.0:0.0	.	.	.	.	X	231	.	ENSP00000307684:E231X	E	-	1	0	TADA3	9803898	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	7.267000	0.78462	2.630000	0.89119	0.655000	0.94253	GAA		0.632	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		
PRRT3	285368	broad.mit.edu	37	3	9990983	9990983	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:9990983C>T	ENST00000412055.1	-	2	946	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.A273T	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	273	Pro-rich.					integral component of membrane (GO:0016021)		p.A273T(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTGGCCAATGCCAAGTCTGGC	0.642																																					p.A273T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	3						.						42.0	48.0	46.0					3																	9990983		2048	4198	6246	9965983	SO:0001583	missense	285368	exon2			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.817G>A	3.37:g.9990983C>T	ENSP00000392511:p.Ala273Thr		9965983	NM_207351	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605162	0.14002	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.25085	2.17;1.82	3.73	1.92	0.25849	.	0.307062	0.23700	N	0.045429	T	0.13970	0.0338	L	0.36672	1.1	0.25676	N	0.985849	P;B	0.35107	0.484;0.077	B;B	0.26770	0.073;0.021	T	0.13683	-1.0500	9	.	.	.	-5.2104	5.3032	0.15790	0.0:0.6786:0.2079:0.1135	.	273;273	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	T	273	ENSP00000392511:A273T;ENSP00000404512:A273T	.	A	-	1	0	PRRT3	9965983	0.009000	0.17119	0.698000	0.30274	0.046000	0.14306	0.525000	0.22956	0.553000	0.29044	-0.172000	0.13284	GCA		0.642	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	
KAT2B	8850	broad.mit.edu	37	3	20187847	20187847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:20187847C>T	ENST00000263754.4	+	14	2499	c.2044C>T	c.(2044-2046)Cga>Tga	p.R682*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	682					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R682*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGCACAAATTCGAAAAGTTTA	0.343																																					p.R682X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2044T	3						.						125.0	132.0	130.0					3																	20187847		2203	4300	6503	20162851	SO:0001587	stop_gained	8850	exon14			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2044C>T	3.37:g.20187847C>T	ENSP00000263754:p.Arg682*		20162851	NM_003884	Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	C	43	10.073624	0.99331	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4628	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	X	682	.	ENSP00000263754:R682X	R	+	1	2	KAT2B	20162851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.459000	0.45023	2.837000	0.97791	0.655000	0.94253	CGA		0.343	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KAT2B	8850	broad.mit.edu	37	3	20189935	20189935	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:20189935G>T	ENST00000263754.4	+	17	2716	c.2261G>T	c.(2260-2262)aGa>aTa	p.R754I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	754	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035, ECO:0000305}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.R754I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CCTGTGAAGAGAACAGAAGCT	0.393																																					p.R754I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2261T	3						.						114.0	122.0	119.0					3																	20189935		2203	4300	6503	20164939	SO:0001583	missense	8850	exon17			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2261G>T	3.37:g.20189935G>T	ENSP00000263754:p.Arg754Ile		20164939	NM_003884	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886054	0.72410	.	.	ENSG00000114166	ENST00000263754	T	0.31510	1.49	5.38	5.38	0.77491	Bromodomain (6);Bromodomain, conserved site (1);	0.041945	0.85682	D	0.000000	T	0.39384	0.1076	L	0.40543	1.245	0.80722	D	1	P	0.34864	0.473	P	0.44518	0.452	T	0.26573	-1.0099	10	0.72032	D	0.01	-23.6514	19.4914	0.95050	0.0:0.0:1.0:0.0	.	754	Q92831	KAT2B_HUMAN	I	754	ENSP00000263754:R754I	ENSP00000263754:R754I	R	+	2	0	KAT2B	20164939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.269000	0.78482	2.669000	0.90835	0.563000	0.77884	AGA		0.393	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
SGOL1	151648	broad.mit.edu	37	3	20215781	20215781	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:20215781T>G	ENST00000263753.4	-	6	1381	c.1242A>C	c.(1240-1242)gaA>gaC	p.E414D	SGOL1_ENST00000425061.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.E414D|SGOL1_ENST00000421451.1_Missense_Mutation_p.E414D|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.E414D	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	414					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.E414D(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CCGTCTCTTTTTCATCTGTGT	0.403																																					p.E414D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1242C	3						.						109.0	116.0	114.0					3																	20215781		2203	4300	6503	20190785	SO:0001583	missense	151648	exon6			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1242A>C	3.37:g.20215781T>G	ENSP00000263753:p.Glu414Asp		20190785	NM_001012409	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480465	0.26598	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.33654	1.4;1.4;1.42;1.42	5.47	1.88	0.25563	.	0.963326	0.08706	N	0.905666	T	0.28001	0.0690	L	0.54323	1.7	0.09310	N	1	B;B	0.32918	0.39;0.39	B;B	0.27380	0.079;0.079	T	0.22556	-1.0213	10	0.31617	T	0.26	.	3.8117	0.08799	0.1498:0.2496:0.0:0.6006	.	414;414	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	D	414	ENSP00000263753:E414D;ENSP00000414129:E414D;ENSP00000410458:E414D;ENSP00000406880:E414D	ENSP00000263753:E414D	E	-	3	2	SGOL1	20190785	0.055000	0.20627	0.070000	0.20053	0.795000	0.44927	0.028000	0.13644	0.393000	0.25203	0.459000	0.35465	GAA		0.403	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484	
ZNF385D	79750	broad.mit.edu	37	3	21478515	21478515	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:21478515G>A	ENST00000281523.2	-	5	1138	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	207						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S207L(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478																																					p.S207L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	3						.						178.0	147.0	158.0					3																	21478515		2203	4300	6503	21453519	SO:0001583	missense	79750	exon5			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.620C>T	3.37:g.21478515G>A	ENSP00000281523:p.Ser207Leu		21453519	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702821	0.96812	.	.	ENSG00000151789	ENST00000281523	T	0.24151	1.87	6.09	6.09	0.99107	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31724	-0.9933	10	0.45353	T	0.12	-7.6409	20.6789	0.99705	0.0:0.0:1.0:0.0	.	207	Q9H6B1	Z385D_HUMAN	L	207	ENSP00000281523:S207L	ENSP00000281523:S207L	S	-	2	0	ZNF385D	21453519	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	TCG		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
ZNF385D	79750	broad.mit.edu	37	3	21478639	21478639	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:21478639T>A	ENST00000281523.2	-	5	1014	c.496A>T	c.(496-498)Agc>Tgc	p.S166C	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	166	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S166C(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATAACACTGCTTTTGCGGATT	0.438																																					p.S166C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496T	3						.						167.0	155.0	159.0					3																	21478639		2203	4300	6503	21453643	SO:0001583	missense	79750	exon5			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.496A>T	3.37:g.21478639T>A	ENSP00000281523:p.Ser166Cys		21453643	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511636	0.64522	.	.	ENSG00000151789	ENST00000281523	T	0.34072	1.38	6.09	6.09	0.99107	.	0.418241	0.29015	N	0.013401	T	0.30510	0.0767	N	0.14661	0.345	0.38998	D	0.959298	D	0.63046	0.992	P	0.46543	0.52	T	0.18524	-1.0334	10	0.51188	T	0.08	-5.5049	16.6542	0.85224	0.0:0.0:0.0:1.0	.	166	Q9H6B1	Z385D_HUMAN	C	166	ENSP00000281523:S166C	ENSP00000281523:S166C	S	-	1	0	ZNF385D	21453643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.039000	0.57325	2.331000	0.79229	0.533000	0.62120	AGC		0.438	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
NKIRAS1	28512	broad.mit.edu	37	3	23934592	23934592	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:23934592C>A	ENST00000443659.2	-	4	1350	c.573G>T	c.(571-573)gaG>gaT	p.E191D	NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E191D|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E191D|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E191D|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E191D|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E191D|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E191D|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E191D			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	191					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E191D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATTTTTAGTTCTCAGAATTAG	0.348																																					p.E191D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G573T	3						.						97.0	96.0	96.0					3																	23934592		2203	4300	6503	23909596	SO:0001583	missense	28512	exon5			AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.573G>T	3.37:g.23934592C>A	ENSP00000393785:p.Glu191Asp		23909596	NM_020345	Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167403	0.01660	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-0.76;-0.76;-0.76;-1.03	4.86	0.927	0.19437	.	0.128686	0.52532	D	0.000074	T	0.39200	0.1069	N	0.01729	-0.75	0.30951	N	0.7247	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.38200	-0.9672	10	0.02654	T	1	-8.0128	1.7395	0.02949	0.1322:0.3416:0.1293:0.397	.	191;191	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	D	191	ENSP00000373411:E191D;ENSP00000393785:E191D;ENSP00000392307:E191D;ENSP00000400385:E191D;ENSP00000406543:E191D;ENSP00000396063:E191D;ENSP00000415225:E191D;ENSP00000394214:E191D	ENSP00000373411:E191D	E	-	3	2	NKIRAS1	23909596	0.996000	0.38824	0.999000	0.59377	0.377000	0.30045	0.289000	0.18957	0.245000	0.21373	0.591000	0.81541	GAG		0.348	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345	
NR1D2	9975	broad.mit.edu	37	3	24001301	24001301	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:24001301G>T	ENST00000312521.4	+	4	831	c.512G>T	c.(511-513)aGa>aTa	p.R171I	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	171	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R171I(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGAATGTCAAGAGATGGTATG	0.398																																					p.R171I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512T	3						.						158.0	144.0	149.0					3																	24001301		2203	4300	6503	23976305	SO:0001583	missense	9975	exon4			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.512G>T	3.37:g.24001301G>T	ENSP00000310006:p.Arg171Ile		23976305	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485073	0.63962	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97480	-4.4	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	M	0.89968	3.075	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.99342	1.0912	10	0.87932	D	0	.	20.1589	0.98128	0.0:0.0:1.0:0.0	.	171	Q14995	NR1D2_HUMAN	I	171	ENSP00000310006:R171I	ENSP00000310006:R171I	R	+	2	0	NR1D2	23976305	1.000000	0.71417	0.977000	0.42913	0.083000	0.17756	8.042000	0.89430	2.769000	0.95229	0.650000	0.86243	AGA		0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
NR1D2	9975	broad.mit.edu	37	3	24003817	24003817	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:24003817G>T	ENST00000312521.4	+	5	1186	c.867G>T	c.(865-867)aaG>aaT	p.K289N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	289	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K289N(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGATTCCCAAGAACATGGAGC	0.458																																					p.K289N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867T	3						.						61.0	59.0	60.0					3																	24003817		2203	4300	6503	23978821	SO:0001583	missense	9975	exon5			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.867G>T	3.37:g.24003817G>T	ENSP00000310006:p.Lys289Asn		23978821	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299547	0.40694	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.92149	-2.98	5.84	2.09	0.27110	.	0.182555	0.46758	D	0.000277	D	0.82701	0.5094	N	0.22421	0.69	0.27932	N	0.937847	B	0.06786	0.001	B	0.06405	0.002	T	0.66889	-0.5809	10	0.16896	T	0.51	.	8.5247	0.33298	0.2968:0.0:0.7032:0.0	.	289	Q14995	NR1D2_HUMAN	N	289	ENSP00000310006:K289N	ENSP00000310006:K289N	K	+	3	2	NR1D2	23978821	0.928000	0.31464	0.993000	0.49108	0.880000	0.50808	0.479000	0.22228	0.381000	0.24851	0.655000	0.94253	AAG		0.458	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
TOP2B	7155	broad.mit.edu	37	3	25639883	25639883	+	Missense_Mutation	SNP	C	C	T	rs184041688		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:25639883C>T	ENST00000264331.4	-	36	4795	c.4796G>A	c.(4795-4797)cGa>cAa	p.R1599Q	TOP2B_ENST00000435706.2_Missense_Mutation_p.R1594Q|TOP2B_ENST00000540199.1_Missense_Mutation_p.R451Q|TOP2B_ENST00000542520.1_Missense_Mutation_p.R451Q	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1599					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.R1594Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCGACCGGTTCGTGGCAGAGA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18073	0.0		0.001	False		,,,				2504	0.0				p.R1594Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4781A	3						.						89.0	91.0	91.0					3																	25639883		1866	4096	5962	25614887	SO:0001583	missense	7155	exon36			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4796G>A	3.37:g.25639883C>T	ENSP00000264331:p.Arg1599Gln		25614887	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.05	3.751359	0.69533	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.64	5.64	0.86602	DTHCT (1);	0.064498	0.64402	D	0.000006	T	0.43411	0.1246	N	0.08118	0	0.58432	D	0.999994	D;D	0.59357	0.985;0.981	P;P	0.48873	0.593;0.458	T	0.50233	-0.8852	10	0.49607	T	0.09	-7.5049	17.8735	0.88818	0.0:1.0:0.0:0.0	.	1599;1594	Q02880;Q02880-2	TOP2B_HUMAN;.	Q	451;1594;1599;451	ENSP00000446023:R451Q;ENSP00000396704:R1594Q;ENSP00000264331:R1599Q;ENSP00000437352:R451Q	ENSP00000264331:R1599Q	R	-	2	0	TOP2B	25614887	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	6.298000	0.72763	2.662000	0.90505	0.591000	0.81541	CGA		0.413	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
TOP2B	7155	broad.mit.edu	37	3	25646332	25646332	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:25646332C>A	ENST00000264331.4	-	33	4407	c.4408G>T	c.(4408-4410)Gat>Tat	p.D1470Y	TOP2B_ENST00000435706.2_Missense_Mutation_p.D1465Y|TOP2B_ENST00000540199.1_Missense_Mutation_p.D322Y|TOP2B_ENST00000542520.1_Missense_Mutation_p.D322Y	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1470					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.D1465Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAAGCAGAATCTTCTTCATTA	0.313																																					p.D1465Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4393T	3						.						118.0	110.0	112.0					3																	25646332		1811	4068	5879	25621336	SO:0001583	missense	7155	exon33			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4408G>T	3.37:g.25646332C>A	ENSP00000264331:p.Asp1470Tyr		25621336	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	C	19.71	3.878740	0.72294	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.49720	0.77;0.85;0.85;0.77	5.48	5.48	0.80851	.	0.262894	0.42964	D	0.000636	T	0.51261	0.1664	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.61744	-0.7000	10	0.66056	D	0.02	-20.2424	17.9046	0.88914	0.0:1.0:0.0:0.0	.	1470;1465	Q02880;Q02880-2	TOP2B_HUMAN;.	Y	322;1465;1470;322	ENSP00000446023:D322Y;ENSP00000396704:D1465Y;ENSP00000264331:D1470Y;ENSP00000437352:D322Y	ENSP00000264331:D1470Y	D	-	1	0	TOP2B	25621336	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.225000	0.65294	2.722000	0.93159	0.563000	0.77884	GAT		0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
TOP2B	7155	broad.mit.edu	37	3	25651069	25651069	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:25651069C>A	ENST00000264331.4	-	29	3920	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N	TOP2B_ENST00000475717.1_5'Flank|TOP2B_ENST00000435706.2_Missense_Mutation_p.K1302N|TOP2B_ENST00000540199.1_Missense_Mutation_p.K159N|TOP2B_ENST00000542520.1_Missense_Mutation_p.K159N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1307					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.K1302N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CAGGCTCCTTCTTCTCCCTCT	0.383																																					p.K1302N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3906T	3						.						61.0	54.0	56.0					3																	25651069		1848	4089	5937	25626073	SO:0001583	missense	7155	exon29			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3921G>T	3.37:g.25651069C>A	ENSP00000264331:p.Lys1307Asn		25626073	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	C	16.05	3.013150	0.54468	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.54479	0.57;0.82;0.83;0.57	5.72	1.66	0.24008	.	0.082849	0.85682	D	0.000000	T	0.62221	0.2410	M	0.64997	1.995	0.58432	D	0.999994	D;D	0.59357	0.975;0.985	P;P	0.61397	0.776;0.888	T	0.60110	-0.7327	10	0.59425	D	0.04	-11.6026	9.4004	0.38428	0.0:0.3389:0.0:0.6611	.	1307;1302	Q02880;Q02880-2	TOP2B_HUMAN;.	N	159;1302;1307;159	ENSP00000446023:K159N;ENSP00000396704:K1302N;ENSP00000264331:K1307N;ENSP00000437352:K159N	ENSP00000264331:K1307N	K	-	3	2	TOP2B	25626073	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	0.763000	0.26517	0.077000	0.16863	-0.438000	0.05819	AAG		0.383	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
TOP2B	7155	broad.mit.edu	37	3	25670600	25670600	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:25670600T>G	ENST00000264331.4	-	14	1725	c.1726A>C	c.(1726-1728)Aat>Cat	p.N576H	TOP2B_ENST00000435706.2_Missense_Mutation_p.N571H	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	576	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.N571H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGGATGAAATTAATAAGCAGG	0.269																																					p.N571H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1711C	3						.						117.0	114.0	115.0					3																	25670600		1803	4071	5874	25645604	SO:0001583	missense	7155	exon14			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1726A>C	3.37:g.25670600T>G	ENSP00000264331:p.Asn576His		25645604	NM_001068	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37		.	.	.	.	.	.	.	.	.	.	T	23.3	4.400460	0.83120	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.53206	0.63;0.63	5.19	5.19	0.71726	.	0.085999	0.85682	D	0.000000	T	0.80391	0.4614	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88011	0.2762	10	0.87932	D	0	-6.73	15.3297	0.74196	0.0:0.0:0.0:1.0	.	571	Q02880-2	.	H	571;576;571	ENSP00000396704:N571H;ENSP00000264331:N576H	ENSP00000264331:N576H	N	-	1	0	TOP2B	25645604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.078000	0.62432	0.528000	0.53228	AAT		0.269	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
NGLY1	55768	broad.mit.edu	37	3	25775392	25775392	+	Nonsense_Mutation	SNP	G	G	A	rs146140738	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:25775392G>A	ENST00000280700.5	-	8	1391	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	NGLY1_ENST00000417874.2_Nonsense_Mutation_p.R369*|NGLY1_ENST00000428257.1_Nonsense_Mutation_p.R393*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.R411*|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	411					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.R411*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAGTGTCTCGAAGTAATGCT	0.358													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16244	0.001		0.0	False		,,,				2504	0.0				p.R369X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1105T	3						.						172.0	160.0	164.0					3																	25775392		2203	4300	6503	25750396	SO:0001587	stop_gained	55768	exon8			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1231C>T	3.37:g.25775392G>A	ENSP00000280700:p.Arg411*		25750396	NM_001145294	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Nonsense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	40	8.271979	0.98737	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.	.	.	5.77	3.71	0.42584	.	0.120349	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.9369	14.9594	0.71144	0.0:0.0:0.6274:0.3726	.	.	.	.	X	393;411;411;390;369	.	ENSP00000280700:R411X	R	-	1	2	NGLY1	25750396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.915000	0.48805	1.552000	0.49463	0.655000	0.94253	CGA		0.358	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2		
NEK10	152110	broad.mit.edu	37	3	27326180	27326180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:27326180G>A	ENST00000429845.2	-	23	2289	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.R643*|NEK10_ENST00000357467.2_Nonsense_Mutation_p.R40*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R643*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTAAGTATCGAAGAGCTAAG	0.373																																					p.R643X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1927T	3						.						128.0	121.0	123.0					3																	27326180		2203	4300	6503	27301184	SO:0001587	stop_gained	152110	exon23			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1927C>T	3.37:g.27326180G>A	ENSP00000395849:p.Arg643*		27301184	NM_199347	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	ENST00000429845.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	11.069275|11.069275	0.99511|0.99511	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435;ENST00000396636|ENST00000435584	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.057211|.	0.64402|.	D|.	0.000002|.	.|T	.|0.81113	.|0.4755	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78534	.|-0.2167	.|3	0.02654|.	T|.	1|.	.|.	20.5373|20.5373	0.99239|0.99239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	40;643;643|99	.|.	ENSP00000343847:R643X|.	R|S	-|-	1|2	2|0	NEK10|NEK10	27301184|27301184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.945000|3.945000	0.56637|0.56637	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
NEK10	152110	broad.mit.edu	37	3	27343247	27343247	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:27343247G>T	ENST00000429845.2	-	14	1470	c.1108C>A	c.(1108-1110)Cat>Aat	p.H370N	NEK10_ENST00000341435.5_Missense_Mutation_p.H370N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	370					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H370N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTGATAAATGAAGCTGCTGG	0.363																																					p.H370N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1108A	3						.						38.0	34.0	35.0					3																	27343247		1564	3577	5141	27318251	SO:0001583	missense	152110	exon14			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1108C>A	3.37:g.27343247G>T	ENSP00000395849:p.His370Asn		27318251	NM_199347	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	G	13.20	2.166520	0.38217	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.68624	-0.34	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.672210	0.14741	N	0.301170	T	0.43942	0.1270	N	0.08118	0	0.80722	D	1	B	0.30664	0.289	B	0.25614	0.062	T	0.40776	-0.9545	10	0.32370	T	0.25	.	10.5415	0.45035	0.1516:0.0:0.8484:0.0	.	370	Q6ZWH5	NEK10_HUMAN	N	370	ENSP00000343847:H370N	ENSP00000343847:H370N	H	-	1	0	NEK10	27318251	1.000000	0.71417	0.996000	0.52242	0.842000	0.47809	4.485000	0.60279	2.509000	0.84616	0.585000	0.79938	CAT		0.363	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
NEK10	152110	broad.mit.edu	37	3	27385841	27385841	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:27385841C>A	ENST00000429845.2	-	6	646	c.284G>T	c.(283-285)aGa>aTa	p.R95I	NEK10_ENST00000341435.5_Missense_Mutation_p.R95I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	95					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R95I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCTGAAATTTCTCTCATTCTT	0.373																																					p.R95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284T	3						.						112.0	92.0	98.0					3																	27385841		1565	3580	5145	27360845	SO:0001583	missense	152110	exon6			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.284G>T	3.37:g.27385841C>A	ENSP00000395849:p.Arg95Ile		27360845	NM_199347	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37		.	.	.	.	.	.	.	.	.	.	C	26.9	4.779319	0.90195	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750;ENST00000429845	T;T;T	0.75821	-0.81;0.16;-0.97	5.76	5.76	0.90799	.	0.195974	0.51477	D	0.000093	D	0.83608	0.5291	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	D	0.84200	0.0450	10	0.87932	D	0	.	18.1155	0.89553	0.0:1.0:0.0:0.0	.	95	Q6ZWH5	NEK10_HUMAN	I	95	ENSP00000343847:R95I;ENSP00000395338:R95I;ENSP00000395849:R95I	ENSP00000343847:R95I	R	-	2	0	NEK10	27360845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.189000	0.65098	2.880000	0.98712	0.650000	0.86243	AGA		0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
SLC4A7	9497	broad.mit.edu	37	3	27453232	27453232	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:27453232C>A	ENST00000295736.5	-	12	1710	c.1640G>T	c.(1639-1641)aGa>aTa	p.R547I	SLC4A7_ENST00000435667.2_Missense_Mutation_p.R432I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R556I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R539I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R543I|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R97I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.R539I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R543I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R428I|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R423I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R428I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	547					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.R547I(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)	AGGAATCTTTCTCTTTTCCTG	0.398																																					p.R547I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1640T	3						.						43.0	46.0	45.0					3																	27453232		2202	4300	6502	27428236	SO:0001583	missense	9497	exon12			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.1640G>T	3.37:g.27453232C>A	ENSP00000295736:p.Arg547Ile		27428236	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	.	.	.	.	.	.	.	.	.	.	C	32	5.109565	0.94292	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.63	5.63	0.86233	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.040549	0.85682	D	0.000000	D	0.92727	0.7688	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.996;0.996;0.998;0.999;1.0;0.996;0.993	D;D;D;D;D;D;D;D;D	0.97110	0.969;0.999;0.969;0.969;0.969;0.988;1.0;0.969;0.917	D	0.93170	0.6565	10	0.87932	D	0	.	20.054	0.97641	0.0:1.0:0.0:0.0	.	543;428;539;543;556;97;423;547;428	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	I	98;547;423;556;543;428;539;428;543;432;97;539;443	ENSP00000411031:R98I;ENSP00000295736:R547I;ENSP00000416368:R423I;ENSP00000390394:R556I;ENSP00000414797:R543I;ENSP00000394252:R428I;ENSP00000406605:R539I;ENSP00000407382:R428I;ENSP00000406804:R543I;ENSP00000395336:R432I;ENSP00000373429:R97I;ENSP00000401949:R539I;ENSP00000388703:R443I	ENSP00000295736:R547I	R	-	2	0	SLC4A7	27428236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.808000	0.96608	0.655000	0.94253	AGA		0.398	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
SLC4A7	9497	broad.mit.edu	37	3	27460089	27460089	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:27460089C>A	ENST00000295736.5	-	11	1590	c.1520G>T	c.(1519-1521)aGa>aTa	p.R507I	SLC4A7_ENST00000435667.2_Missense_Mutation_p.R392I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R516I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R499I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R503I|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R57I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.R499I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R503I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R388I|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R383I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R388I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	507					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.R507I(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)	GAGGTCATTTCTGTCTTTTGC	0.318																																					p.R507I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1520T	3						.						78.0	76.0	77.0					3																	27460089		2202	4300	6502	27435093	SO:0001583	missense	9497	exon11			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.1520G>T	3.37:g.27460089C>A	ENSP00000295736:p.Arg507Ile		27435093	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	.	.	.	.	.	.	.	.	.	.	C	34	5.335156	0.95758	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.73	5.73	0.89815	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.113243	0.64402	D	0.000004	D	0.87943	0.6305	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0;0.994;1.0;1.0;1.0	D	0.89616	0.3845	10	0.87932	D	0	.	19.8951	0.96955	0.0:1.0:0.0:0.0	.	503;388;499;503;516;57;383;507;388	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	I	58;507;383;516;503;388;499;388;503;392;57;499;403	ENSP00000411031:R58I;ENSP00000295736:R507I;ENSP00000416368:R383I;ENSP00000390394:R516I;ENSP00000414797:R503I;ENSP00000394252:R388I;ENSP00000406605:R499I;ENSP00000407382:R388I;ENSP00000406804:R503I;ENSP00000395336:R392I;ENSP00000373429:R57I;ENSP00000401949:R499I;ENSP00000388703:R403I	ENSP00000295736:R507I	R	-	2	0	SLC4A7	27435093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.694000	0.91930	0.655000	0.94253	AGA		0.318	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
ZCWPW2	152098	broad.mit.edu	37	3	28454571	28454571	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:28454571A>C	ENST00000383768.2	+	3	200	c.12A>C	c.(10-12)gaA>gaC	p.E4D	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E4D			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	4							zinc ion binding (GO:0008270)	p.E4D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TGGATAAAGAAAAATTGGATG	0.299																																					p.E4D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12C	3						.						59.0	62.0	61.0					3																	28454571		2203	4300	6503	28429575	SO:0001583	missense	152098	exon2			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.12A>C	3.37:g.28454571A>C	ENSP00000373278:p.Glu4Asp		28429575	NM_001040432		Missense_Mutation	SNP	ENST00000383768.2	37	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406087	0.25378	.	.	ENSG00000206559	ENST00000420223;ENST00000383768;ENST00000421010	T;T	0.35048	1.33;1.33	5.16	1.46	0.22682	.	1.117560	0.07053	N	0.832244	T	0.23766	0.0575	L	0.27053	0.805	0.09310	N	1	B	0.26002	0.139	B	0.19391	0.025	T	0.26155	-1.0111	10	0.24483	T	0.36	0.7968	6.7144	0.23294	0.7032:0.0:0.2968:0.0	.	4	Q504Y3	ZCPW2_HUMAN	D	4	ENSP00000373278:E4D;ENSP00000412386:E4D	ENSP00000373278:E4D	E	+	3	2	ZCWPW2	28429575	0.969000	0.33509	0.010000	0.14722	0.061000	0.15899	2.582000	0.46085	0.073000	0.16731	-0.353000	0.07706	GAA		0.299	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
ZCWPW2	152098	broad.mit.edu	37	3	28557063	28557063	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:28557063C>T	ENST00000383768.2	+	8	923	c.735C>T	c.(733-735)tgC>tgT	p.C245C	ZCWPW2_ENST00000421010.1_Silent_p.C245C			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	245							zinc ion binding (GO:0008270)	p.C245C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTTTAAAATGCTCTTTTGAAA	0.303																																					p.C245C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C735T	3						.						44.0	46.0	46.0					3																	28557063		2203	4295	6498	28532067	SO:0001819	synonymous_variant	152098	exon7			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.735C>T	3.37:g.28557063C>T			28532067	NM_001040432		Silent	SNP	ENST00000383768.2	37	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.071|0.071	-1.201905|-1.201905	0.01581|0.01581	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000457897|ENST00000419130	.|.	.|.	.|.	5.61|5.61	1.8|1.8	0.24995|0.24995	.|.	.|.	.|.	.|.	.|.	T|T	0.51449|0.51449	0.1675|0.1675	.|.	.|.	.|.	0.42466|0.42466	D|D	0.992807|0.992807	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39603|0.39603	-0.9606|-0.9606	4|4	.|.	.|.	.|.	2.2595|2.2595	4.7762|4.7762	0.13180|0.13180	0.1489:0.6053:0.0:0.2458|0.1489:0.6053:0.0:0.2458	.|.	.|.	.|.	.|.	V|F	68|130	.|.	.|.	A|L	+|+	2|1	0|0	ZCWPW2|ZCWPW2	28532067|28532067	0.010000|0.010000	0.17322|0.17322	0.872000|0.872000	0.34217|0.34217	0.055000|0.055000	0.15305|0.15305	-0.457000|-0.457000	0.06745|0.06745	0.337000|0.337000	0.23665|0.23665	-0.145000|-0.145000	0.13849|0.13849	GCT|CTC		0.303	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384	
RBMS3	27303	broad.mit.edu	37	3	29476320	29476320	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:29476320C>T	ENST00000383767.2	+	2	498	c.162C>T	c.(160-162)agC>agT	p.S54S	RBMS3_ENST00000396583.3_Silent_p.S54S|RBMS3_ENST00000434693.2_Silent_p.S53S|RBMS3_ENST00000383766.2_Silent_p.S53S|RBMS3_ENST00000452462.1_Silent_p.S54S|RBMS3_ENST00000273139.9_Silent_p.S54S|RBMS3_ENST00000445033.1_Silent_p.S54S|RBMS3_ENST00000456853.1_Silent_p.S54S			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	54					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.S54S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				acaacagcagcGGGGAACAGT	0.552																																					p.S54S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	3						.						217.0	164.0	182.0					3																	29476320		2203	4300	6503	29451324	SO:0001819	synonymous_variant	27303	exon2			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.162C>T	3.37:g.29476320C>T			29451324	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	37	CCDS33724.1																																																																																				0.552	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
STT3B	201595	broad.mit.edu	37	3	31666425	31666425	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:31666425G>T	ENST00000295770.2	+	12	1956	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	583					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.D583Y(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TATCTTAGATGATTTTAGAGA	0.358																																					p.D583Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1747T	3						.						127.0	128.0	128.0					3																	31666425		2203	4300	6503	31641429	SO:0001583	missense	201595	exon12			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1747G>T	3.37:g.31666425G>T	ENSP00000295770:p.Asp583Tyr		31641429	NM_178862	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394070	0.83011	.	.	ENSG00000163527	ENST00000295770	D	0.90844	-2.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98283	1.0509	10	0.87932	D	0	-9.6778	18.8245	0.92111	0.0:0.0:1.0:0.0	.	583	Q8TCJ2	STT3B_HUMAN	Y	583	ENSP00000295770:D583Y	ENSP00000295770:D583Y	D	+	1	0	STT3B	31641429	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.524000	0.85096	0.313000	0.20887	GAT		0.358	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
OSBPL10	114884	broad.mit.edu	37	3	31725525	31725525	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:31725525G>A	ENST00000396556.2	-	8	1449	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	OSBPL10_ENST00000438237.2_Silent_p.L379L	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	443					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.L443L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GTGATGGCCAGCAGTAGGTCT	0.537																																					p.L443L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1327T	3						.						58.0	61.0	60.0					3																	31725525		2203	4300	6503	31700529	SO:0001819	synonymous_variant	114884	exon8			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1327C>T	3.37:g.31725525G>A			31700529	NM_017784	B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	CCDS2651.1																																																																																				0.537	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		
GPD1L	23171	broad.mit.edu	37	3	32207371	32207371	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:32207371C>A	ENST00000282541.5	+	8	1226	c.1025C>A	c.(1024-1026)tCt>tAt	p.S342Y		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	342					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)	p.S342Y(1)		large_intestine(4)|lung(7)|ovary(1)	12						GAGATGTTGTCTTGTCTTCAG	0.433																																					p.S342Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1025A	3						.						198.0	165.0	176.0					3																	32207371		2203	4300	6503	32182375	SO:0001583	missense	23171	exon8			D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.1025C>A	3.37:g.32207371C>A	ENSP00000282541:p.Ser342Tyr		32182375	NM_015141	A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466213	0.26335	.	.	ENSG00000152642	ENST00000282541	T	0.64085	-0.08	5.81	3.1	0.35709	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.479195	0.25663	N	0.029127	T	0.50274	0.1606	L	0.46157	1.445	0.39966	D	0.974731	P	0.35959	0.53	B	0.31191	0.125	T	0.50533	-0.8817	10	0.62326	D	0.03	-2.4825	9.5477	0.39291	0.0:0.7537:0.1182:0.1281	.	342	Q8N335	GPD1L_HUMAN	Y	342	ENSP00000282541:S342Y	ENSP00000282541:S342Y	S	+	2	0	GPD1L	32182375	0.000000	0.05858	0.417000	0.26559	0.015000	0.08874	1.237000	0.32695	0.396000	0.25283	-0.122000	0.15005	TCT		0.433	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341975.2	NM_015141	
TRIM71	131405	broad.mit.edu	37	3	32933287	32933287	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:32933287G>A	ENST00000383763.5	+	4	2654	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	864					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R864Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCAACAATCGAATCCTCGTC	0.512																																					p.R864Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2591A	3						.						94.0	100.0	98.0					3																	32933287		2015	4163	6178	32908291	SO:0001583	missense	131405	exon4				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2591G>A	3.37:g.32933287G>A	ENSP00000373272:p.Arg864Gln		32908291	NM_001039111		Missense_Mutation	SNP	ENST00000383763.5	37	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401530	0.83120	.	.	ENSG00000206557	ENST00000383763	T	0.77620	-1.11	5.87	5.87	0.94306	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87468	0.2412	10	0.25106	T	0.35	-9.5038	18.7681	0.91881	0.0:0.0:1.0:0.0	.	864	Q2Q1W2	LIN41_HUMAN	Q	864	ENSP00000373272:R864Q	ENSP00000373272:R864Q	R	+	2	0	TRIM71	32908291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.827000	0.99397	2.779000	0.95612	0.591000	0.81541	CGA		0.512	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	
UBP1	7342	broad.mit.edu	37	3	33438616	33438616	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33438616A>C	ENST00000283629.3	-	12	1721	c.1192T>G	c.(1192-1194)Tta>Gta	p.L398V	UBP1_ENST00000447368.2_Missense_Mutation_p.L362V|UBP1_ENST00000283628.5_Missense_Mutation_p.L398V|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	398					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L398V(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCAGTTTTAATAAGTCGGCA	0.373																																					p.L398V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1192G	3						.						77.0	76.0	76.0					3																	33438616		2203	4300	6503	33413620	SO:0001583	missense	7342	exon13			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1192T>G	3.37:g.33438616A>C	ENSP00000283629:p.Leu398Val		33413620	NM_001128161	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.289121	0.40494	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.39229	1.09;1.28;1.09	4.83	-7.46	0.01369	Sterile alpha motif/pointed domain (1);	0.083889	0.48286	D	0.000192	T	0.34366	0.0895	L	0.52573	1.65	0.45962	D	0.998786	B;B	0.28082	0.011;0.2	B;B	0.33620	0.011;0.167	T	0.11717	-1.0576	10	0.87932	D	0	-9.1521	14.3779	0.66892	0.7212:0.0:0.2788:0.0	.	362;398	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	V	398;362;398	ENSP00000283629:L398V;ENSP00000395558:L362V;ENSP00000283628:L398V	ENSP00000283628:L398V	L	-	1	2	UBP1	33413620	0.927000	0.31430	0.583000	0.28640	0.991000	0.79684	0.101000	0.15251	-1.723000	0.01375	-0.248000	0.11899	TTA		0.373	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
CLASP2	23122	broad.mit.edu	37	3	33540152	33540152	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33540152G>A	ENST00000468888.2	-	39	4562	c.4516C>T	c.(4516-4518)Ccc>Tcc	p.P1506S	CLASP2_ENST00000480013.1_Missense_Mutation_p.P1285S|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000359576.5_Missense_Mutation_p.P1497S|CLASP2_ENST00000461133.3_Missense_Mutation_p.P1265S|CLASP2_ENST00000307312.7_Missense_Mutation_p.P987S|CLASP2_ENST00000399362.4_Missense_Mutation_p.P1505S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1286					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.P1498S(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGTAGTGGGATCAGCTCCT	0.433																																					p.P1498S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4492T	3						.						173.0	159.0	163.0					3																	33540152		1915	4125	6040	33515156	SO:0001583	missense	23122	exon38			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4516C>T	3.37:g.33540152G>A	ENSP00000419974:p.Pro1506Ser		33515156	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.765355|1.765355	0.31228|0.31228	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133|ENST00000487553	T;T;T|.	0.15017|.	2.46;2.46;2.47|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.166717|.	0.53938|.	D|.	0.000045|.	T|T	0.14399|0.14399	0.0348|0.0348	N|N	0.02011|0.02011	-0.69|-0.69	0.18873|0.18873	N|N	0.999984|0.999984	B;B|.	0.11235|.	0.001;0.004|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.14008|0.14008	-1.0488|-1.0488	10|5	0.02654|.	T|.	1|.	-5.2873|-5.2873	9.4662|9.4662	0.38813|0.38813	0.0:0.1431:0.6879:0.169|0.0:0.1431:0.6879:0.169	.|.	1497;1505|.	F5H604;E7ERI8|.	.;.|.	S|F	1506;1505;1497;987;1285;1265|211	ENSP00000419974:P1506S;ENSP00000382297:P1505S;ENSP00000352581:P1497S|.	ENSP00000304743:P987S|.	P|S	-|-	1|2	0|0	CLASP2|CLASP2	33515156|33515156	0.998000|0.998000	0.40836|0.40836	0.988000|0.988000	0.46212|0.46212	0.998000|0.998000	0.95712|0.95712	2.081000|2.081000	0.41596|0.41596	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.433	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
CLASP2	23122	broad.mit.edu	37	3	33645687	33645687	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33645687G>A	ENST00000468888.2	-	17	1758	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	CLASP2_ENST00000480013.1_Missense_Mutation_p.S337F|CLASP2_ENST00000487200.1_Missense_Mutation_p.S343F|CLASP2_ENST00000333778.6_Missense_Mutation_p.S347F|CLASP2_ENST00000313350.6_Missense_Mutation_p.S343F|CLASP2_ENST00000461133.3_Missense_Mutation_p.S337F|CLASP2_ENST00000359576.5_Missense_Mutation_p.S570F|CLASP2_ENST00000399362.4_Missense_Mutation_p.S570F|CLASP2_ENST00000539981.1_Missense_Mutation_p.S322F|CLASP2_ENST00000307312.7_Missense_Mutation_p.S59F			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	337	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.S570F(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGACCATTTGGAAGAAAAAGG	0.323																																					p.S570F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1709T	3						.						29.0	28.0	28.0					3																	33645687		1781	4041	5822	33620691	SO:0001583	missense	23122	exon17			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1712C>T	3.37:g.33645687G>A	ENSP00000419974:p.Ser571Phe		33620691	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	G	19.27	3.794859	0.70452	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T	0.20881	2.04;2.05;2.04	5.35	5.35	0.76521	Armadillo-type fold (1);	0.123266	0.56097	D	0.000026	T	0.40272	0.1110	L	0.54323	1.7	0.44668	D	0.997659	D;D;D;D;D	0.64830	0.964;0.991;0.964;0.979;0.994	P;P;P;P;D	0.74348	0.65;0.762;0.65;0.81;0.983	T	0.03034	-1.1080	10	0.17832	T	0.49	-5.7924	17.2341	0.86994	0.0:0.0:1.0:0.0	.	347;337;343;343;570	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	F	571;570;570;59;322;337;337;343;343;347	ENSP00000419974:S571F;ENSP00000382297:S570F;ENSP00000352581:S570F	ENSP00000304743:S59F	S	-	2	0	CLASP2	33620691	1.000000	0.71417	0.994000	0.49952	0.708000	0.40852	5.994000	0.70623	2.668000	0.90789	0.563000	0.77884	TCC		0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
CLASP2	23122	broad.mit.edu	37	3	33648232	33648232	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33648232T>G	ENST00000468888.2	-	16	1594	c.1548A>C	c.(1546-1548)agA>agC	p.R516S	CLASP2_ENST00000480013.1_Missense_Mutation_p.R282S|CLASP2_ENST00000487200.1_Missense_Mutation_p.R288S|CLASP2_ENST00000333778.6_Missense_Mutation_p.R292S|CLASP2_ENST00000313350.6_Missense_Mutation_p.R288S|CLASP2_ENST00000461133.3_Missense_Mutation_p.R282S|CLASP2_ENST00000359576.5_Missense_Mutation_p.R515S|CLASP2_ENST00000399362.4_Missense_Mutation_p.R515S|CLASP2_ENST00000539981.1_Missense_Mutation_p.R267S|CLASP2_ENST00000307312.7_Missense_Mutation_p.R4S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	282	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)	p.R515S(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GAAAGTGGTTTCTAAGACCCA	0.348																																					p.R515S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1545C	3						.						134.0	132.0	133.0					3																	33648232		1833	4073	5906	33623236	SO:0001583	missense	23122	exon16			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1548A>C	3.37:g.33648232T>G	ENSP00000419974:p.Arg516Ser		33623236	NM_015097	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37		.	.	.	.	.	.	.	.	.	.	T	18.15	3.560667	0.65538	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.02;0.02;0.02;1.59;1.59;1.59	5.05	2.57	0.30868	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.37800	1.135	0.45427	D	0.998404	B;D;P;B;D	0.59767	0.07;0.986;0.898;0.067;0.969	B;P;P;B;P	0.58928	0.105;0.848;0.696;0.064;0.723	T	0.56798	-0.7919	10	0.45353	T	0.12	-19.5175	5.8385	0.18621	0.0:0.1479:0.1397:0.7123	.	292;282;288;288;515	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	S	516;515;515;4;267;282;282;288;288;292	ENSP00000419974:R516S;ENSP00000382297:R515S;ENSP00000352581:R515S;ENSP00000439039:R267S;ENSP00000417518:R282S;ENSP00000419305:R282S;ENSP00000324364:R288S;ENSP00000418939:R288S;ENSP00000327760:R292S	ENSP00000304743:R4S	R	-	3	2	CLASP2	33623236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.182000	0.32029	0.319000	0.23209	0.533000	0.62120	AGA		0.348	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
PDCD6IP	10015	broad.mit.edu	37	3	33877666	33877666	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33877666G>A	ENST00000307296.3	+	8	1342	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.R327Q			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	322	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.R322Q(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TATCATGATCGAGTTCCAGAC	0.393																																					p.R327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	3						.						156.0	159.0	158.0					3																	33877666		2203	4300	6503	33852670	SO:0001583	missense	10015	exon8			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.965G>A	3.37:g.33877666G>A	ENSP00000307387:p.Arg322Gln		33852670	NM_001162429	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.760463	0.96906	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.17528	2.27;2.27	5.18	5.18	0.71444	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67103	0.949;0.949;0.949	T	0.19679	-1.0298	10	0.13853	T	0.58	-7.1397	18.691	0.91582	0.0:0.0:1.0:0.0	.	103;327;322	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	Q	322;327	ENSP00000307387:R322Q;ENSP00000411825:R327Q	ENSP00000307387:R322Q	R	+	2	0	PDCD6IP	33852670	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.852000	0.99516	2.407000	0.81776	0.650000	0.86243	CGA		0.393	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
PDCD6IP	10015	broad.mit.edu	37	3	33885643	33885643	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:33885643G>T	ENST00000307296.3	+	11	1776	c.1399G>T	c.(1399-1401)Gat>Tat	p.D467Y	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D472Y			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	467	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.D467Y(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AACCGATAATGATTTAAGAGC	0.328																																					p.D472Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414T	3						.						84.0	82.0	83.0					3																	33885643		2203	4299	6502	33860647	SO:0001583	missense	10015	exon11			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1399G>T	3.37:g.33885643G>T	ENSP00000307387:p.Asp467Tyr		33860647	NM_001162429	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696402	0.88830	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.30714	1.52;1.52	5.27	5.27	0.74061	.	0.199470	0.51477	D	0.000083	T	0.39572	0.1083	L	0.29908	0.895	0.80722	D	1	P;P;P	0.51653	0.947;0.947;0.905	P;P;P	0.54499	0.687;0.754;0.687	T	0.27400	-1.0075	10	0.72032	D	0.01	-11.0519	18.9033	0.92452	0.0:0.0:1.0:0.0	.	248;472;467	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	Y	467;472	ENSP00000307387:D467Y;ENSP00000411825:D472Y	ENSP00000307387:D467Y	D	+	1	0	PDCD6IP	33860647	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.221000	0.89774	2.474000	0.83562	0.557000	0.71058	GAT		0.328	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
STAC	6769	broad.mit.edu	37	3	36484894	36484894	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36484894G>T	ENST00000273183.3	+	2	450	c.150G>T	c.(148-150)aaG>aaT	p.K50N	STAC_ENST00000457375.2_Missense_Mutation_p.K50N|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	50					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.K50N(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TCAAGACCAAGAGTTTACGGA	0.473																																					p.K50N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G150T	3						.						75.0	61.0	66.0					3																	36484894		2203	4300	6503	36459898	SO:0001583	missense	6769	exon2			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.150G>T	3.37:g.36484894G>T	ENSP00000273183:p.Lys50Asn		36459898	NM_003149	B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569198	0.65765	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000434649	T;T;T	0.76839	-1.05;0.74;0.59	5.02	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	L	0.50333	1.59	0.52099	D	0.999942	D;D	0.71674	0.998;0.993	D;P	0.78314	0.991;0.738	T	0.81127	-0.1074	10	0.59425	D	0.04	.	6.9974	0.24791	0.2089:0.0:0.7911:0.0	.	50;50	E9PEA7;Q99469	.;STAC_HUMAN	N	50;50;39	ENSP00000273183:K50N;ENSP00000393713:K50N;ENSP00000398403:K39N	ENSP00000273183:K50N	K	+	3	2	STAC	36459898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.443000	0.59994	2.486000	0.83907	0.650000	0.86243	AAG		0.473	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
STAC	6769	broad.mit.edu	37	3	36587685	36587685	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36587685C>A	ENST00000273183.3	+	11	1413	c.1113C>A	c.(1111-1113)atC>atA	p.I371I	STAC_ENST00000457375.2_Silent_p.I310I	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	371					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.I371I(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCATTCAGATCTGCGTGAGTT	0.423																																					p.I371I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113A	3						.						112.0	102.0	106.0					3																	36587685		2203	4300	6503	36562689	SO:0001819	synonymous_variant	6769	exon11			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.1113C>A	3.37:g.36587685C>A			36562689	NM_003149	B2R8S8	Silent	SNP	ENST00000273183.3	37	CCDS2662.1																																																																																				0.423	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	
TRANK1	9881	broad.mit.edu	37	3	36872794	36872794	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36872794T>G	ENST00000429976.2	-	21	8395	c.8148A>C	c.(8146-8148)aaA>aaC	p.K2716N	TRANK1_ENST00000428977.2_Missense_Mutation_p.K2166N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K2166N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2716							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.K2166N(1)|p.K2716N(1)|p.K2159N(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGTCTGCCTTTTTGAAGTTCC	0.587																																					p.K2716N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A8148C	3						.						54.0	57.0	56.0					3																	36872794		2047	4173	6220	36847798	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.8148A>C	3.37:g.36872794T>G	ENSP00000416168:p.Lys2716Asn		36847798	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498928	0.64298	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35789	1.29;1.71;1.29	5.49	3.09	0.35607	.	0.000000	0.64402	D	0.000004	T	0.44973	0.1319	L	0.34521	1.04	0.36014	D	0.83826	D	0.89917	1.0	D	0.85130	0.997	T	0.54761	-0.8245	10	0.87932	D	0	.	9.1105	0.36725	0.0:0.1546:0.0:0.8454	.	2716	O15050	TRNK1_HUMAN	N	2166;2716;2166	ENSP00000416826:K2166N;ENSP00000416168:K2716N;ENSP00000301807:K2166N	ENSP00000301807:K2166N	K	-	3	2	TRANK1	36847798	0.997000	0.39634	0.998000	0.56505	0.685000	0.39939	0.380000	0.20602	1.014000	0.39417	0.459000	0.35465	AAA		0.587	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36874377	36874377	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36874377C>T	ENST00000429976.2	-	21	6812	c.6565G>A	c.(6565-6567)Ggg>Agg	p.G2189R	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1639R|TRANK1_ENST00000301807.6_Missense_Mutation_p.G1639R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2189							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.G2189R(1)|p.G1639R(1)|p.G1632R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAAGCAACCCGTTGATTGCC	0.378																																					p.G2189R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G6565A	3						.						35.0	35.0	35.0					3																	36874377		1840	4086	5926	36849381	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6565G>A	3.37:g.36874377C>T	ENSP00000416168:p.Gly2189Arg		36849381	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920590	0.33908	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34667	1.35;1.77;1.35	5.02	5.02	0.67125	.	0.000000	0.52532	D	0.000068	T	0.48768	0.1518	L	0.34521	1.04	0.38837	D	0.955986	D	0.89917	1.0	D	0.77004	0.989	T	0.53041	-0.8494	10	0.72032	D	0.01	.	14.4554	0.67413	0.1478:0.8522:0.0:0.0	.	2189	O15050	TRNK1_HUMAN	R	1639;2189;1639	ENSP00000416826:G1639R;ENSP00000416168:G2189R;ENSP00000301807:G1639R	ENSP00000301807:G1639R	G	-	1	0	TRANK1	36849381	0.993000	0.37304	0.113000	0.21522	0.330000	0.28571	3.934000	0.56553	2.500000	0.84329	0.455000	0.32223	GGG		0.378	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36874778	36874778	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36874778T>G	ENST00000429976.2	-	21	6411	c.6164A>C	c.(6163-6165)aAa>aCa	p.K2055T	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1505T|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1505T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2055							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.K1498T(1)|p.K1505T(1)|p.K2055T(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGTCACTCTTTTGAGAGCCCT	0.512																																					p.K2055T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A6164C	3						.						46.0	46.0	46.0					3																	36874778		1878	4133	6011	36849782	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6164A>C	3.37:g.36874778T>G	ENSP00000416168:p.Lys2055Thr		36849782	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845949	0.32606	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33865	1.39;1.81;1.39	4.5	0.779	0.18550	.	0.393432	0.20785	N	0.085739	T	0.23806	0.0576	L	0.27053	0.805	0.09310	N	1	P	0.46706	0.883	B	0.43508	0.422	T	0.09975	-1.0650	10	0.54805	T	0.06	.	6.3471	0.21355	0.0:0.1518:0.1356:0.7126	.	2055	O15050	TRNK1_HUMAN	T	1505;2055;1505	ENSP00000416826:K1505T;ENSP00000416168:K2055T;ENSP00000301807:K1505T	ENSP00000301807:K1505T	K	-	2	0	TRANK1	36849782	0.008000	0.16893	0.018000	0.16275	0.988000	0.76386	0.797000	0.26999	0.318000	0.23185	0.454000	0.30748	AAA		0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36875031	36875031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36875031C>A	ENST00000429976.2	-	21	6158	c.5911G>T	c.(5911-5913)Gaa>Taa	p.E1971*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E1421*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E1421*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1971							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E1971*(1)|p.E1421*(1)|p.E1414*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAAGTGCTTCTCTCAGAATG	0.552																																					p.E1971X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G5911T	3						.						47.0	47.0	47.0					3																	36875031		1950	4136	6086	36850035	SO:0001587	stop_gained	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5911G>T	3.37:g.36875031C>A	ENSP00000416168:p.Glu1971*		36850035	NM_014831	Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	45	11.370453	0.99552	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.3274	0.94267	0.0:1.0:0.0:0.0	.	.	.	.	X	1421;1971;1421	.	ENSP00000301807:E1421X	E	-	1	0	TRANK1	36850035	0.998000	0.40836	0.995000	0.50966	0.983000	0.72400	3.046000	0.49846	2.648000	0.89879	0.561000	0.74099	GAA		0.552	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36875271	36875271	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36875271C>A	ENST00000429976.2	-	21	5918	c.5671G>T	c.(5671-5673)Gac>Tac	p.D1891Y	TRANK1_ENST00000428977.2_Missense_Mutation_p.D1341Y|TRANK1_ENST00000301807.6_Missense_Mutation_p.D1341Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1891							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.D1334Y(1)|p.D1891Y(1)|p.D1341Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTTCTATGTCTAGCTTTGAG	0.483																																					p.D1891Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5671T	3						.						148.0	142.0	144.0					3																	36875271		1934	4146	6080	36850275	SO:0001583	missense	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5671G>T	3.37:g.36875271C>A	ENSP00000416168:p.Asp1891Tyr		36850275	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266442	0.40095	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37235	1.21;1.63;1.21	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000015	T	0.52175	0.1718	L	0.32530	0.975	0.52501	D	0.999953	D	0.89917	1.0	D	0.87578	0.998	T	0.54043	-0.8352	10	0.72032	D	0.01	.	19.3274	0.94267	0.0:1.0:0.0:0.0	.	1891	O15050	TRNK1_HUMAN	Y	1341;1891;1341	ENSP00000416826:D1341Y;ENSP00000416168:D1891Y;ENSP00000301807:D1341Y	ENSP00000301807:D1341Y	D	-	1	0	TRANK1	36850275	0.961000	0.32948	0.107000	0.21349	0.355000	0.29361	2.902000	0.48703	2.648000	0.89879	0.561000	0.74099	GAC		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36876275	36876275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36876275C>A	ENST00000429976.2	-	20	5756	c.5509G>T	c.(5509-5511)Gaa>Taa	p.E1837*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E1287*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E1287*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1837							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E1280*(1)|p.E1287*(1)|p.E1837*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATAGCAGCTTCTTCAAAAAGC	0.478																																					p.E1837X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G5509T	3						.						106.0	107.0	106.0					3																	36876275		1905	4116	6021	36851279	SO:0001587	stop_gained	9881	exon20			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5509G>T	3.37:g.36876275C>A	ENSP00000416168:p.Glu1837*		36851279	NM_014831	Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	45	11.799525	0.99604	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.85	5.85	0.93711	.	0.104695	0.42548	D	0.000686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	.	.	.	X	1287;1837;1287	.	ENSP00000301807:E1287X	E	-	1	0	TRANK1	36851279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	GAA		0.478	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36884146	36884146	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:36884146C>A	ENST00000429976.2	-	17	5362	c.5115G>T	c.(5113-5115)caG>caT	p.Q1705H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1155H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Q1155H|TRANK1_ENST00000463984.1_5'Flank	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1705							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.Q1155H(2)|p.Q1705H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTAATCTCCCTGTGCAATCC	0.493																																					p.Q1705H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G5115T	3						.						86.0	89.0	88.0					3																	36884146		1955	4135	6090	36859150	SO:0001583	missense	9881	exon17			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5115G>T	3.37:g.36884146C>A	ENSP00000416168:p.Gln1705His		36859150	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888728	0.72524	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37411	1.2;1.62;1.2	5.46	-2.53	0.06326	Tetratricopeptide-like helical (1);	0.000000	0.53938	D	0.000055	T	0.37183	0.0994	L	0.27053	0.805	0.38779	D	0.954722	D	0.67145	0.996	P	0.59703	0.862	T	0.33214	-0.9877	10	0.66056	D	0.02	.	13.3266	0.60463	0.0:0.4817:0.0:0.5183	.	1705	O15050	TRNK1_HUMAN	H	1155;1705;1155	ENSP00000416826:Q1155H;ENSP00000416168:Q1705H;ENSP00000301807:Q1155H	ENSP00000301807:Q1155H	Q	-	3	2	TRANK1	36859150	0.997000	0.39634	0.832000	0.32986	0.864000	0.49448	0.204000	0.17335	-0.326000	0.08564	-0.312000	0.09012	CAG		0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
EPM2AIP1	9852	broad.mit.edu	37	3	37032999	37032999	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37032999C>A	ENST00000322716.5	-	1	1796	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	524					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.D524Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGCCCCAAGTCTTTGATTCTG	0.398																																					p.D524Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1570T	3						.						53.0	49.0	50.0					3																	37032999		1845	4081	5926	37008003	SO:0001583	missense	9852	exon1			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1570G>T	3.37:g.37032999C>A	ENSP00000406027:p.Asp524Tyr		37008003	NM_014805	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865124	0.51482	.	.	ENSG00000178567	ENST00000322716	T	0.14893	2.47	4.71	3.74	0.42951	.	.	.	.	.	T	0.17577	0.0422	L	0.53249	1.67	0.35983	D	0.836143	P	0.47191	0.891	B	0.44224	0.444	T	0.10613	-1.0622	9	0.59425	D	0.04	-6.2668	5.5465	0.17067	0.0:0.7822:0.0:0.2178	.	524	Q7L775	EPMIP_HUMAN	Y	524	ENSP00000406027:D524Y	ENSP00000406027:D524Y	D	-	1	0	EPM2AIP1	37008003	0.769000	0.28531	1.000000	0.80357	0.975000	0.68041	0.492000	0.22435	2.420000	0.82092	0.655000	0.94253	GAC		0.398	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805	
EPM2AIP1	9852	broad.mit.edu	37	3	37033211	37033211	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37033211T>G	ENST00000322716.5	-	1	1584	c.1358A>C	c.(1357-1359)aAa>aCa	p.K453T	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	453					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.K453T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATCAAATATTTTTTCATCTTC	0.328																																					p.K453T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1358C	3						.						30.0	30.0	30.0					3																	37033211		1815	4063	5878	37008215	SO:0001583	missense	9852	exon1			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1358A>C	3.37:g.37033211T>G	ENSP00000406027:p.Lys453Thr		37008215	NM_014805	O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414887	0.25465	.	.	ENSG00000178567	ENST00000322716	T	0.15017	2.46	4.71	2.16	0.27623	.	.	.	.	.	T	0.10465	0.0256	L	0.34521	1.04	0.21762	N	0.999553	B	0.09022	0.002	B	0.13407	0.009	T	0.38929	-0.9638	9	0.12766	T	0.61	-6.104	4.7331	0.12975	0.0:0.1018:0.1912:0.707	.	453	Q7L775	EPMIP_HUMAN	T	453	ENSP00000406027:K453T	ENSP00000406027:K453T	K	-	2	0	EPM2AIP1	37008215	0.001000	0.12720	0.936000	0.37596	0.957000	0.61999	0.264000	0.18497	0.818000	0.34468	0.533000	0.62120	AAA		0.328	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805	
MLH1	4292	broad.mit.edu	37	3	37056025	37056025	+	Silent	SNP	C	C	T	rs587779038		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37056025C>T	ENST00000231790.2	+	9	996	c.780C>T	c.(778-780)ctC>ctT	p.L260L	MLH1_ENST00000539477.1_Silent_p.L19L|MLH1_ENST00000455445.2_Silent_p.L19L|MLH1_ENST00000435176.1_Silent_p.L162L|MLH1_ENST00000458205.2_Silent_p.L19L|MLH1_ENST00000536378.1_Silent_p.L19L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	260			L -> F (associated with HNPCC2; has no effect on ex vivo splicing assay). {ECO:0000269|PubMed:18561205}.|L -> R (in CRC). {ECO:0000269|PubMed:10882759}.|Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)|p.L260L(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCTTCTTACTCTTCATCAACC	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.L260L		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	2	Whole gene deletion(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)	c.C780T	3						.						62.0	57.0	59.0					3																	37056025		2203	4300	6503	37031029	SO:0001819	synonymous_variant	4292	exon9	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.780C>T	3.37:g.37056025C>T			37031029	NM_000249	B4DI13|B4DQ11|E9PCU2	Silent	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190670	0.21954	.	.	ENSG00000076242	ENST00000456676	.	.	.	5.43	3.59	0.41128	.	.	.	.	.	T	0.60958	0.2309	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56251	-0.8010	4	.	.	.	-15.2486	10.3406	0.43875	0.0:0.6752:0.2555:0.0694	.	.	.	.	F	252	.	.	S	+	2	0	MLH1	37031029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.820000	0.27323	0.626000	0.30322	0.591000	0.81541	TCT		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
MLH1	4292	broad.mit.edu	37	3	37083786	37083786	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37083786T>G	ENST00000231790.2	+	15	1911	c.1695T>G	c.(1693-1695)atT>atG	p.I565M	MLH1_ENST00000539477.1_Missense_Mutation_p.I324M|MLH1_ENST00000455445.2_Missense_Mutation_p.I324M|MLH1_ENST00000435176.1_Missense_Mutation_p.I467M|MLH1_ENST00000458205.2_Missense_Mutation_p.I324M|MLH1_ENST00000536378.1_Missense_Mutation_p.I324M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	565	Interaction with EXO1.		I -> F (in HNPCC2). {ECO:0000269|PubMed:9833759}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.I565M(1)|p.0?(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGATACTCATTTATGATTTTG	0.343		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.I565M		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	3	Substitution - Missense(1)|Whole gene deletion(1)|Unknown(1)	ovary(1)|breast(1)|large_intestine(1)	c.T1695G	3						.						239.0	231.0	234.0					3																	37083786		2201	4300	6501	37058790	SO:0001583	missense	4292	exon15	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1695T>G	3.37:g.37083786T>G	ENSP00000231790:p.Ile565Met		37058790	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.40|13.40	2.226547|2.226547	0.39300|0.39300	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	.|D;D;D;D;D;D	.|0.91740	.|-2.9;-2.9;-2.9;-2.9;-2.9;-2.9	5.44|5.44	0.404|0.404	0.16355|0.16355	.|.	.|0.264362	.|0.42821	.|D	.|0.000653	D|D	0.87775|0.87775	0.6262|0.6262	L|L	0.55103|0.55103	1.725|1.725	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B;B	.|0.13594	.|0.008;0.005;0.008;0.002	.|B;B;B;B	.|0.28638	.|0.092;0.062;0.056;0.03	T|T	0.79045|0.79045	-0.1964|-0.1964	5|10	.|0.51188	.|T	.|0.08	-11.1017|-11.1017	5.7686|5.7686	0.18241|0.18241	0.12:0.2192:0.0:0.6607|0.12:0.2192:0.0:0.6607	.|.	.|467;324;565;565	.|E9PCU2;B4DI13;Q53GX1;P40692	.|.;.;.;MLH1_HUMAN	C|M	557|565;429;107;324;324;324;467;324	.|ENSP00000231790:I565M;ENSP00000402667:I324M;ENSP00000443665:I324M;ENSP00000398272:I324M;ENSP00000402564:I467M;ENSP00000444286:I324M	.|ENSP00000231790:I565M	F|I	+|+	2|3	0|3	MLH1|MLH1	37058790|37058790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.981000|0.981000	0.29526|0.29526	0.148000|0.148000	0.19059|0.19059	0.482000|0.482000	0.46254|0.46254	TTT|ATT		0.343	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
MLH1	4292	broad.mit.edu	37	3	37090083	37090083	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37090083C>A	ENST00000231790.2	+	17	2188	c.1972C>A	c.(1972-1974)Ctt>Att	p.L658I	MLH1_ENST00000539477.1_Missense_Mutation_p.L417I|MLH1_ENST00000455445.2_Missense_Mutation_p.L417I|MLH1_ENST00000435176.1_Missense_Mutation_p.L560I|MLH1_ENST00000458205.2_Missense_Mutation_p.L417I|MLH1_ENST00000536378.1_Missense_Mutation_p.L417I	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	658					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)|p.L658I(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TATCTTCATTCTTCGACTAGC	0.493		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.L658I		yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.C1972A	3						.						125.0	117.0	120.0					3																	37090083		2203	4300	6503	37065087	SO:0001583	missense	4292	exon17	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1972C>A	3.37:g.37090083C>A	ENSP00000231790:p.Leu658Ile		37065087	NM_000249	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397563	0.83120	.	.	ENSG00000076242	ENST00000231790;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378	D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	M	0.86343	2.81	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.891	D;D;P	0.78314	0.991;0.978;0.854	D	0.96334	0.9246	10	0.49607	T	0.09	-15.7872	13.3539	0.60617	0.0:0.9283:0.0:0.0717	.	560;417;658	E9PCU2;B4DI13;P40692	.;.;MLH1_HUMAN	I	658;417;417;417;560;417	ENSP00000231790:L658I;ENSP00000402667:L417I;ENSP00000443665:L417I;ENSP00000398272:L417I;ENSP00000402564:L560I;ENSP00000444286:L417I	ENSP00000231790:L658I	L	+	1	0	MLH1	37065087	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	3.774000	0.55341	2.768000	0.95171	0.650000	0.86243	CTT		0.493	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	
LRRFIP2	9209	broad.mit.edu	37	3	37125147	37125147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37125147C>A	ENST00000336686.4	-	19	1338	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	LRRFIP2_ENST00000396428.2_Nonsense_Mutation_p.E236*|LRRFIP2_ENST00000354379.4_Nonsense_Mutation_p.E164*|LRRFIP2_ENST00000421276.2_Nonsense_Mutation_p.E188*|LRRFIP2_ENST00000421307.1_Nonsense_Mutation_p.E420*|LRRFIP2_ENST00000440230.1_Nonsense_Mutation_p.E188*			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	420					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.E420*(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCTTCATTTTCTCTATAAAAT	0.368																																					p.E164X												.	.	2	Substitution - Nonsense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G490T	3						.						149.0	150.0	149.0					3																	37125147		2203	4298	6501	37100151	SO:0001587	stop_gained	9209	exon7			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1258G>T	3.37:g.37125147C>A	ENSP00000338727:p.Glu420*		37100151	NM_017724	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Nonsense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.170724|7.170724	0.98111|0.98111	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000354379;ENST00000336686;ENST00000421276;ENST00000396428;ENST00000440230;ENST00000416425|ENST00000440742	.|T	.|0.59772	.|0.24	5.78|5.78	4.89|4.89	0.63831|0.63831	.|.	0.046027|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73063	.|0.3539	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79087	.|-0.1947	.|5	0.20519|0.87932	T|D	0.43|0	-8.1088|-8.1088	16.7311|16.7311	0.85435|0.85435	0.0:0.8705:0.1295:0.0|0.0:0.8705:0.1295:0.0	.|.	.|.	.|.	.|.	X|I	420;164;420;188;236;188;188|32	.|ENSP00000413026:R32I	ENSP00000338727:E420X|ENSP00000413026:R32I	E|R	-|-	1|2	0|0	LRRFIP2|LRRFIP2	37100151|37100151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.612000|4.612000	0.61169|0.61169	1.415000|1.415000	0.47037|0.47037	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.368	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
GOLGA4	2803	broad.mit.edu	37	3	37367050	37367050	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37367050G>A	ENST00000361924.2	+	14	4047	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1247K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1225	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1225K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAAGAAAACCGAAGCCTTATT	0.353																																					p.E1247K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3739A	3						.						64.0	65.0	65.0					3																	37367050		2203	4299	6502	37342054	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3673G>A	3.37:g.37367050G>A	ENSP00000354486:p.Glu1225Lys		37342054	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639269	0.29157	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25749	1.78;1.78;1.78	5.53	4.64	0.57946	.	0.204773	0.24576	N	0.037342	T	0.14098	0.0341	N	0.24115	0.695	0.38754	D	0.954186	P;B;B;B	0.45474	0.859;0.333;0.333;0.137	B;B;B;B	0.33568	0.166;0.102;0.102;0.027	T	0.10291	-1.0636	10	0.16896	T	0.51	.	13.4548	0.61193	0.0765:0.0:0.9235:0.0	.	1225;1225;1247;1225	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1225;1247;1096	ENSP00000354486:E1225K;ENSP00000349305:E1247K;ENSP00000405842:E1096K	ENSP00000349305:E1247K	E	+	1	0	GOLGA4	37342054	1.000000	0.71417	0.780000	0.31762	0.394000	0.30568	3.039000	0.49791	1.308000	0.44962	0.563000	0.77884	GAA		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37367985	37367985	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37367985G>T	ENST00000361924.2	+	14	4982	c.4608G>T	c.(4606-4608)caG>caT	p.Q1536H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1558H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1536	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q1536H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATTACCCAGAAAACTATTG	0.313																																					p.Q1558H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4674T	3						.						63.0	71.0	68.0					3																	37367985		2200	4290	6490	37342989	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4608G>T	3.37:g.37367985G>T	ENSP00000354486:p.Gln1536His		37342989	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784235	0.16189	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25414	1.81;1.8;1.81	5.44	5.44	0.79542	.	0.238696	0.21920	N	0.067161	T	0.45337	0.1337	M	0.72118	2.19	0.34153	D	0.66771	D;P;P;B	0.53151	0.958;0.911;0.911;0.013	P;P;P;B	0.53313	0.723;0.723;0.723;0.007	T	0.58115	-0.7693	10	0.52906	T	0.07	.	19.2623	0.93973	0.0:0.0:1.0:0.0	.	1536;1536;1558;1536	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	H	1536;1558;1407	ENSP00000354486:Q1536H;ENSP00000349305:Q1558H;ENSP00000405842:Q1407H	ENSP00000349305:Q1558H	Q	+	3	2	GOLGA4	37342989	1.000000	0.71417	0.993000	0.49108	0.206000	0.24218	2.813000	0.48002	2.550000	0.86006	0.462000	0.41574	CAG		0.313	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1561	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1561*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACACAAAGAATTGGTTCA	0.308																																					p.E1583X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4747T	3						.						69.0	80.0	76.0					3																	37368058		2198	4295	6493	37343062	SO:0001587	stop_gained	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4681G>T	3.37:g.37368058G>T	ENSP00000354486:p.Glu1561*		37343062	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	44	11.128092	0.99519	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.46	4.46	0.54185	.	0.214996	0.23594	N	0.046501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	1561;1583;1432	.	ENSP00000349305:E1583X	E	+	1	0	GOLGA4	37343062	1.000000	0.71417	0.321000	0.25320	0.910000	0.53928	6.029000	0.70895	2.417000	0.82017	0.462000	0.41574	GAA		0.308	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37368234	37368234	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37368234G>T	ENST00000361924.2	+	14	5231	c.4857G>T	c.(4855-4857)gaG>gaT	p.E1619D	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1641D|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1619	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1619D(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGCAAAGAGGAGGAGTTAA	0.343																																					p.E1641D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4923T	3						.						73.0	79.0	77.0					3																	37368234		2203	4300	6503	37343238	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4857G>T	3.37:g.37368234G>T	ENSP00000354486:p.Glu1619Asp		37343238	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226548	0.22542	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27104	1.7;1.69;1.7	5.23	-10.5	0.00291	.	0.210705	0.23859	N	0.043868	T	0.09158	0.0226	N	0.21373	0.66	0.09310	N	0.999997	B;B;B;B	0.17038	0.02;0.011;0.011;0.002	B;B;B;B	0.16722	0.016;0.016;0.016;0.004	T	0.06752	-1.0809	10	0.22109	T	0.4	.	4.316	0.10993	0.1453:0.1482:0.4355:0.271	.	1619;1619;1641;1619	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	D	1619;1641;1490	ENSP00000354486:E1619D;ENSP00000349305:E1641D;ENSP00000405842:E1490D	ENSP00000349305:E1641D	E	+	3	2	GOLGA4	37343238	0.000000	0.05858	0.183000	0.23137	0.861000	0.49209	-1.363000	0.02592	-2.973000	0.00285	-0.459000	0.05422	GAG		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37368332	37368332	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37368332A>C	ENST00000361924.2	+	14	5329	c.4955A>C	c.(4954-4956)aAg>aCg	p.K1652T	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1674T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1652	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.K1652T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTGCCATTAAGAAGCAGTTG	0.368																																					p.K1674T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5021C	3						.						73.0	79.0	77.0					3																	37368332		2201	4298	6499	37343336	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4955A>C	3.37:g.37368332A>C	ENSP00000354486:p.Lys1652Thr		37343336	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669142	0.67814	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.31769	1.48;1.48;1.48	5.34	1.64	0.23874	.	0.224065	0.22677	N	0.056981	T	0.44435	0.1293	M	0.64997	1.995	0.24481	N	0.994344	D;D;D;D	0.67145	0.996;0.989;0.989;0.981	P;P;P;P	0.62298	0.9;0.787;0.787;0.617	T	0.23511	-1.0186	10	0.48119	T	0.1	.	9.5473	0.39288	0.7129:0.0:0.2871:0.0	.	1652;1652;1674;1652	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	T	1652;1674;1523	ENSP00000354486:K1652T;ENSP00000349305:K1674T;ENSP00000405842:K1523T	ENSP00000349305:K1674T	K	+	2	0	GOLGA4	37343336	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.800000	0.27042	0.356000	0.24157	0.459000	0.35465	AAG		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37369291	37369291	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37369291G>T	ENST00000361924.2	+	14	6288	c.5914G>T	c.(5914-5916)Gat>Tat	p.D1972Y	GOLGA4_ENST00000356847.4_Missense_Mutation_p.D1994Y|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1972	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.D1972Y(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAGAATATGATCAAGAAAG	0.338																																					p.D1994Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5980T	3						.						58.0	63.0	61.0					3																	37369291		2201	4299	6500	37344295	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5914G>T	3.37:g.37369291G>T	ENSP00000354486:p.Asp1972Tyr		37344295	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355716	0.24598	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22743	1.94;1.94;1.94	4.63	4.63	0.57726	.	.	.	.	.	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	B;B;B;B	0.32717	0.381;0.106;0.145;0.001	B;B;B;B	0.30943	0.122;0.084;0.077;0.001	T	0.10590	-1.0623	9	0.51188	T	0.08	.	6.3252	0.21239	0.0942:0.0:0.6662:0.2396	.	1972;1972;1994;1972	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	Y	1972;1994;1843	ENSP00000354486:D1972Y;ENSP00000349305:D1994Y;ENSP00000405842:D1843Y	ENSP00000349305:D1994Y	D	+	1	0	GOLGA4	37344295	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.294000	0.51787	2.114000	0.64651	0.643000	0.83706	GAT		0.338	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
C3orf35	339883	broad.mit.edu	37	3	37476598	37476598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37476598G>T	ENST00000328376.5	+	6	1469	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	C3orf35_ENST00000481400.1_3'UTR	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	164						integral component of membrane (GO:0016021)		p.E164*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGATTCTAGAATTATCTTG	0.502																																					p.E164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G490T	3						.						38.0	41.0	40.0					3																	37476598		1880	4095	5975	37451602	SO:0001587	stop_gained	339883	exon6			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.490G>T	3.37:g.37476598G>T	ENSP00000331625:p.Glu164*		37451602	NM_178339	B7ZMA0|Q8IVJ5|Q8IVJ9	Nonsense_Mutation	SNP	ENST00000328376.5	37	CCDS43065.1	.	.	.	.	.	.	.	.	.	.	G	38	6.639797	0.97726	.	.	ENSG00000198590	ENST00000328376	.	.	.	0.565	0.565	0.17309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	164	.	ENSP00000331625:E164X	E	+	1	0	C3orf35	37451602	0.021000	0.18746	0.006000	0.13384	0.006000	0.05464	0.364000	0.20325	0.556000	0.29098	0.563000	0.77884	GAA		0.502	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338	
ITGA9	3680	broad.mit.edu	37	3	37791972	37791972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37791972G>T	ENST00000264741.5	+	23	2709	c.2453G>T	c.(2452-2454)aGc>aTc	p.S818I	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	818					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S818I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACTGGCCCAAGCACCCTTCCA	0.478																																					p.S818I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2453T	3						.						160.0	136.0	144.0					3																	37791972		2203	4300	6503	37766976	SO:0001583	missense	3680	exon23			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2453G>T	3.37:g.37791972G>T	ENSP00000264741:p.Ser818Ile		37766976	NM_002207	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402553	0.83230	.	.	ENSG00000144668	ENST00000264741	T	0.53640	0.61	5.42	5.42	0.78866	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73056	-0.4103	10	0.87932	D	0	.	18.3443	0.90315	0.0:0.0:1.0:0.0	.	818	Q13797	ITA9_HUMAN	I	818	ENSP00000264741:S818I	ENSP00000264741:S818I	S	+	2	0	ITGA9	37766976	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.942000	0.70203	2.692000	0.91855	0.561000	0.74099	AGC		0.478	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
ITGA9	3680	broad.mit.edu	37	3	37826475	37826475	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:37826475C>T	ENST00000264741.5	+	26	3051	c.2795C>T	c.(2794-2796)tCg>tTg	p.S932L	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	932					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S932L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGACAGTTCGTCTGTCATC	0.493																																					p.S932L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2795T	3						.						98.0	89.0	92.0					3																	37826475		2203	4300	6503	37801479	SO:0001583	missense	3680	exon26			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2795C>T	3.37:g.37826475C>T	ENSP00000264741:p.Ser932Leu		37801479	NM_002207	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880722	0.72294	.	.	ENSG00000144668	ENST00000264741	T	0.41758	0.99	5.91	5.91	0.95273	.	0.178832	0.51477	D	0.000097	T	0.35828	0.0945	L	0.41236	1.265	0.80722	D	1	B	0.28801	0.223	B	0.14578	0.011	T	0.06570	-1.0819	10	0.25751	T	0.34	.	19.061	0.93093	0.0:1.0:0.0:0.0	.	932	Q13797	ITA9_HUMAN	L	932	ENSP00000264741:S932L	ENSP00000264741:S932L	S	+	2	0	ITGA9	37801479	1.000000	0.71417	0.930000	0.37139	0.675000	0.39556	6.940000	0.75917	2.794000	0.96219	0.655000	0.94253	TCG		0.493	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
PLCD1	5333	broad.mit.edu	37	3	38049574	38049574	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38049574C>A	ENST00000334661.4	-	14	2338	c.2116G>T	c.(2116-2118)Gat>Tat	p.D706Y	PLCD1_ENST00000463876.1_Missense_Mutation_p.D727Y	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	706	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)	p.D706Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCATCATAATCTTCCACCAAG	0.527																																					p.D706Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2116T	3						.						117.0	106.0	110.0					3																	38049574		2203	4300	6503	38024578	SO:0001583	missense	5333	exon14				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2116G>T	3.37:g.38049574C>A	ENSP00000335600:p.Asp706Tyr		38024578	NM_006225	B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268263	0.59540	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.77098	-1.07;-1.07	5.11	5.11	0.69529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.088941	0.85682	D	0.000000	D	0.92922	0.7748	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95437	0.8522	10	0.87932	D	0	.	18.4971	0.90869	0.0:1.0:0.0:0.0	.	706;727	P51178;B3KR14	PLCD1_HUMAN;.	Y	727;706	ENSP00000430344:D727Y;ENSP00000335600:D706Y	ENSP00000335600:D706Y	D	-	1	0	PLCD1	38024578	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.773000	0.85462	2.555000	0.86185	0.655000	0.94253	GAT		0.527	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2		
DLEC1	9940	broad.mit.edu	37	3	38103775	38103775	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38103775C>T	ENST00000308059.6	+	4	810	c.789C>T	c.(787-789)ttC>ttT	p.F263F	DLEC1_ENST00000346219.3_Silent_p.F263F|DLEC1_ENST00000452631.2_Silent_p.F263F					deleted in lung and esophageal cancer 1									p.F263F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTGCTGAGTTCGAAGATGAGT	0.453																																					p.F263F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C789T	3						.						88.0	82.0	84.0					3																	38103775		1977	4171	6148	38078779	SO:0001819	synonymous_variant	9940	exon4			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.789C>T	3.37:g.38103775C>T			38078779	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.453	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
DLEC1	9940	broad.mit.edu	37	3	38125714	38125714	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38125714G>A	ENST00000308059.6	+	7	1260	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	DLEC1_ENST00000346219.3_Silent_p.T413T|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Silent_p.T413T					deleted in lung and esophageal cancer 1									p.T413T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGCCTTCCACGCCATACTTCG	0.463																																					p.T413T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1239A	3						.						113.0	123.0	120.0					3																	38125714		2075	4209	6284	38100718	SO:0001819	synonymous_variant	9940	exon7			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1239G>A	3.37:g.38125714G>A			38100718	NM_007337		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.463	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
ACAA1	30	broad.mit.edu	37	3	38167344	38167344	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38167344G>A	ENST00000333167.8	-	10	1198	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	ACAA1_ENST00000301810.7_Silent_p.F249F|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000450296.1_Silent_p.F301F|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	342					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.F342F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATTGATCTCGAAGATGTCCA	0.602																																					p.F249F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747T	3						.						175.0	163.0	167.0					3																	38167344		2203	4300	6503	38142348	SO:0001819	synonymous_variant	30	exon8			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1026C>T	3.37:g.38167344G>A			38142348	NM_001130410	G5E935|Q96CA6	Silent	SNP	ENST00000333167.8	37	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253249	0.22965	.	.	ENSG00000060971	ENST00000452171;ENST00000421218	.	.	.	5.35	1.71	0.24356	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51252	-0.8729	4	.	.	.	-13.3179	9.3415	0.38082	0.7173:0.0:0.2827:0.0	.	.	.	.	L	155;232	.	.	S	-	2	0	ACAA1	38142348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.355000	0.44107	0.354000	0.24105	-0.238000	0.12139	TCG		0.602	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
MYD88	4615	broad.mit.edu	37	3	38182656	38182656	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38182656A>G	ENST00000396334.3	+	5	993	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	MYD88_ENST00000424893.1_Missense_Mutation_p.Y225C|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.Y278C|MYD88_ENST00000443433.2_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	257	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)	p.Y270C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCATCAAGTACAAGGCAATG	0.562			Mis		ABC-DLBCL																																p.Y225C			Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A674G	3						.						171.0	136.0	148.0					3																	38182656		2203	4300	6503	38157660	SO:0001583	missense	4615	exon4			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.809A>G	3.37:g.38182656A>G	ENSP00000379625:p.Tyr270Cys		38157660	NM_001172568	B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020781	0.54576	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.52	5.52	0.82312	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058969	0.64402	D	0.000001	T	0.37156	0.0993	L	0.61218	1.895	0.80722	D	1	B;B;B	0.33022	0.163;0.394;0.196	B;P;B	0.45276	0.243;0.475;0.356	T	0.24083	-1.0170	10	0.56958	D	0.05	-24.4843	11.1341	0.48365	0.9255:0.0:0.0745:0.0	.	212;257;246	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	C	278;270;225;277;246	ENSP00000401399:Y278C;ENSP00000379625:Y270C;ENSP00000389979:Y225C;ENSP00000391753:Y277C	ENSP00000379625:Y270C	Y	+	2	0	MYD88	38157660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.955000	0.56715	2.233000	0.73108	0.533000	0.62120	TAC		0.562	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468	
SLC22A13	9390	broad.mit.edu	37	3	38317845	38317845	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38317845C>A	ENST00000311856.4	+	8	1354	c.1305C>A	c.(1303-1305)atC>atA	p.I435I		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	435					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.I435I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		CCTTTACCATCTCCTATGTGT	0.587																																					p.I435I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1305A	3						.						166.0	133.0	144.0					3																	38317845		2203	4300	6503	38292849	SO:0001819	synonymous_variant	9390	exon8			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1305C>A	3.37:g.38317845C>A			38292849	NM_004256	B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	CCDS2676.1																																																																																				0.587	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256	
SLC22A14	9389	broad.mit.edu	37	3	38348012	38348012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38348012G>T	ENST00000273173.4	+	1	586	c.495G>T	c.(493-495)aaG>aaT	p.K165N	SLC22A14_ENST00000448498.1_Missense_Mutation_p.K165N|RNU6-235P_ENST00000362644.1_RNA	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	165					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.K165N(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGACGCTAAGAAGCGATCGC	0.498																																					p.K165N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G495T	3						.						119.0	108.0	112.0					3																	38348012		2203	4300	6503	38323016	SO:0001583	missense	9389	exon1			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.495G>T	3.37:g.38348012G>T	ENSP00000273173:p.Lys165Asn		38323016	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774719	0.49786	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.66638	-0.22;0.02;0.02	5.06	0.79	0.18613	Major facilitator superfamily domain (1);	0.760161	0.13229	N	0.403775	T	0.63885	0.2549	L	0.55213	1.73	0.09310	N	1	P	0.43662	0.814	P	0.47915	0.561	T	0.53005	-0.8499	10	0.39692	T	0.17	.	6.8334	0.23923	0.1679:0.2739:0.5583:0.0	.	165	Q9Y267	S22AE_HUMAN	N	33;165;165;165	ENSP00000442528:K33N;ENSP00000396283:K165N;ENSP00000273173:K165N	ENSP00000273173:K165N	K	+	3	2	SLC22A14	38323016	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.488000	0.22371	0.017000	0.15025	-0.345000	0.07892	AAG		0.498	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
EXOG	9941	broad.mit.edu	37	3	38537907	38537907	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38537907C>A	ENST00000287675.5	+	1	145	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	EXOG_ENST00000422077.2_Missense_Mutation_p.L17M|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	17					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L17M(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						CCGTCGTTTTCTGAGCGGCTT	0.672											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L17M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	3						.						49.0	50.0	50.0					3																	38537907		2203	4300	6503	38512911	SO:0001583	missense	9941	exon1			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.49C>A	3.37:g.38537907C>A	ENSP00000287675:p.Leu17Met	879	38512911	NM_001145464	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091996	0.76756	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.58060	0.77;0.36	5.04	-0.0844	0.13690	.	0.535975	0.16507	N	0.211419	T	0.42381	0.1200	L	0.32530	0.975	0.20307	N	0.999912	P;P	0.40794	0.729;0.61	P;B	0.45138	0.471;0.28	T	0.29640	-1.0005	10	0.45353	T	0.12	-3.7323	7.624	0.28202	0.0:0.642:0.1653:0.1927	.	17;17	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	M	17	ENSP00000287675:L17M;ENSP00000404305:L17M	ENSP00000287675:L17M	L	+	1	2	EXOG	38512911	0.001000	0.12720	0.002000	0.10522	0.314000	0.28054	-0.621000	0.05559	0.126000	0.18424	0.655000	0.94253	CTG		0.672	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	
SCN5A	6331	broad.mit.edu	37	3	38674674	38674674	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38674674C>A	ENST00000333535.4	-	2	274	c.125G>T	c.(124-126)aGc>aTc	p.S42I	SCN5A_ENST00000413689.1_Missense_Mutation_p.S42I|SCN5A_ENST00000425664.1_Missense_Mutation_p.S42I|SCN5A_ENST00000450102.2_Missense_Mutation_p.S42I|SCN5A_ENST00000455624.2_Missense_Mutation_p.S42I|SCN5A_ENST00000451551.2_Missense_Mutation_p.S42I|SCN5A_ENST00000423572.2_Missense_Mutation_p.S42I|SCN5A_ENST00000443581.1_Missense_Mutation_p.S42I|SCN5A_ENST00000449557.2_Missense_Mutation_p.S42I|SCN5A_ENST00000414099.2_Missense_Mutation_p.S42I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	42					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.S42I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCTCTCGGCTCTCCTGCAA	0.652																																					p.S42I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125T	3						.						26.0	29.0	28.0					3																	38674674		1926	4125	6051	38649678	SO:0001583	missense	6331	exon2			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.125G>T	3.37:g.38674674C>A	ENSP00000328968:p.Ser42Ile		38649678	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452143	0.26074	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	4.55	4.55	0.56014	.	0.634187	0.18608	N	0.136255	T	0.76521	0.3999	L	0.38175	1.15	0.29836	N	0.829655	B;B;B;B;B;B	0.27732	0.139;0.03;0.139;0.097;0.187;0.156	B;B;B;B;B;B	0.35470	0.039;0.03;0.039;0.049;0.203;0.106	T	0.71823	-0.4476	10	0.40728	T	0.16	.	8.7289	0.34487	0.0:0.8596:0.0:0.1404	.	42;42;42;42;42;42	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	42	ENSP00000398962:S42I;ENSP00000398266:S42I;ENSP00000410257:S42I;ENSP00000388797:S42I;ENSP00000397915:S42I;ENSP00000416634:S42I;ENSP00000328968:S42I;ENSP00000399524:S42I;ENSP00000403355:S42I;ENSP00000413996:S42I;ENSP00000333674:S42I	ENSP00000333674:S42I	S	-	2	0	SCN5A	38649678	0.993000	0.37304	1.000000	0.80357	0.520000	0.34377	1.828000	0.39111	2.349000	0.79799	0.491000	0.48974	AGC		0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN10A	6336	broad.mit.edu	37	3	38739769	38739769	+	Missense_Mutation	SNP	C	C	T	rs529861077		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38739769C>T	ENST00000449082.2	-	27	4941	c.4942G>A	c.(4942-4944)Gcc>Acc	p.A1648T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1648					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1648T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGCTGTTGGCGAAGGTCTGG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.001				p.A1648T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4942A	3						.						152.0	146.0	148.0					3																	38739769		2203	4300	6503	38714773	SO:0001583	missense	6336	exon27			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4942G>A	3.37:g.38739769C>T	ENSP00000390600:p.Ala1648Thr		38714773	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811316	0.90707	.	.	ENSG00000185313	ENST00000449082	D	0.97455	-4.39	5.38	4.47	0.54385	Ion transport (1);	0.185590	0.46758	D	0.000261	D	0.96374	0.8817	N	0.26092	0.79	0.34447	D	0.700272	D	0.76494	0.999	P	0.59424	0.857	D	0.98755	1.0722	10	0.87932	D	0	.	16.297	0.82782	0.0:0.8683:0.1317:0.0	.	1648	Q9Y5Y9	SCNAA_HUMAN	T	1648	ENSP00000390600:A1648T	ENSP00000390600:A1648T	A	-	1	0	SCN10A	38714773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.805000	0.62561	2.800000	0.96347	0.655000	0.94253	GCC		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38753917	38753917	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38753917A>G	ENST00000449082.2	-	22	3823	c.3824T>C	c.(3823-3825)gTg>gCg	p.V1275A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1275					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1275A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GATGGCGCCCACCAGGGCATC	0.537																																					p.V1275A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3824C	3						.						81.0	79.0	79.0					3																	38753917		2203	4300	6503	38728921	SO:0001583	missense	6336	exon22			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3824T>C	3.37:g.38753917A>G	ENSP00000390600:p.Val1275Ala		38728921	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524221	0.85600	.	.	ENSG00000185313	ENST00000449082	D	0.98531	-4.98	4.88	4.88	0.63580	Ion transport (1);	0.194026	0.45361	D	0.000364	D	0.97971	0.9332	M	0.86864	2.845	0.43050	D	0.994657	P	0.49783	0.928	P	0.44597	0.454	D	0.98948	1.0793	10	0.87932	D	0	.	14.6606	0.68868	1.0:0.0:0.0:0.0	.	1275	Q9Y5Y9	SCNAA_HUMAN	A	1275	ENSP00000390600:V1275A	ENSP00000390600:V1275A	V	-	2	0	SCN10A	38728921	0.983000	0.35010	1.000000	0.80357	0.979000	0.70002	9.139000	0.94554	2.046000	0.60703	0.454000	0.30748	GTG		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38768346	38768346	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38768346C>T	ENST00000449082.2	-	16	2837	c.2838G>A	c.(2836-2838)gaG>gaA	p.E946E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	946					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E946E(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCACCACCAGCTCAGGCTCTG	0.612																																					p.E946E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2838A	3						.						70.0	72.0	72.0					3																	38768346		2203	4300	6503	38743350	SO:0001819	synonymous_variant	6336	exon16			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2838G>A	3.37:g.38768346C>T			38743350	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.612	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38768447	38768447	+	Missense_Mutation	SNP	C	C	T	rs201054824	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38768447C>T	ENST00000449082.2	-	16	2736	c.2737G>A	c.(2737-2739)Gcc>Acc	p.A913T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	913					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A913T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGTGCCAGGGCCACCTGCAGG	0.577													C|||	3	0.000599042	0.0	0.0	5008	,	,		20802	0.0		0.0	False		,,,				2504	0.0031				p.A913T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2737A	3						.						126.0	122.0	124.0					3																	38768447		2203	4300	6503	38743451	SO:0001583	missense	6336	exon16			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2737G>A	3.37:g.38768447C>T	ENSP00000390600:p.Ala913Thr		38743451	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517661	0.96416	.	.	ENSG00000185313	ENST00000449082	D	0.94650	-3.48	5.03	5.03	0.67393	Sodium ion transport-associated (1);	1.433960	0.04422	N	0.367694	D	0.98147	0.9388	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92885	0.6326	10	0.87932	D	0	.	18.5592	0.91094	0.0:1.0:0.0:0.0	.	913	Q9Y5Y9	SCNAA_HUMAN	T	913	ENSP00000390600:A913T	ENSP00000390600:A913T	A	-	1	0	SCN10A	38743451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.923000	0.70045	2.637000	0.89404	0.561000	0.74099	GCC		0.577	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38791655	38791655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38791655C>A	ENST00000449082.2	-	12	1775	c.1776G>T	c.(1774-1776)aaG>aaT	p.K592N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	592					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K592N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGAAAGTCTTCTTTTGTCCTG	0.453																																					p.K592N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1776T	3						.						137.0	120.0	126.0					3																	38791655		2203	4300	6503	38766659	SO:0001583	missense	6336	exon12			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1776G>T	3.37:g.38791655C>A	ENSP00000390600:p.Lys592Asn		38766659	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441988	0.25900	.	.	ENSG00000185313	ENST00000449082	D	0.95821	-3.82	5.47	4.59	0.56863	.	2.339360	0.01581	N	0.021092	D	0.90841	0.7123	N	0.08118	0	0.27552	N	0.950466	B	0.06786	0.001	B	0.04013	0.001	T	0.79240	-0.1885	10	0.40728	T	0.16	.	11.6774	0.51438	0.0:0.917:0.0:0.083	.	592	Q9Y5Y9	SCNAA_HUMAN	N	592	ENSP00000390600:K592N	ENSP00000390600:K592N	K	-	3	2	SCN10A	38766659	1.000000	0.71417	0.226000	0.23910	0.543000	0.35085	2.575000	0.46025	1.521000	0.48983	0.655000	0.94253	AAG		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38793924	38793924	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38793924A>C	ENST00000449082.2	-	11	1540	c.1541T>G	c.(1540-1542)aTc>aGc	p.I514S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	514					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I514S(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGGAGTGAGATATCTCGGCC	0.597																																					p.I514S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1541G	3						.						42.0	46.0	45.0					3																	38793924		2203	4300	6503	38768928	SO:0001583	missense	6336	exon11			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1541T>G	3.37:g.38793924A>C	ENSP00000390600:p.Ile514Ser		38768928	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	5.725	0.318304	0.10845	.	.	ENSG00000185313	ENST00000449082	D	0.95788	-3.81	4.8	-2.41	0.06562	.	4.297180	0.00357	N	0.000030	D	0.85695	0.5756	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.79505	-0.1776	10	0.42905	T	0.14	.	5.744	0.18110	0.5109:0.2625:0.2266:0.0	.	514	Q9Y5Y9	SCNAA_HUMAN	S	514	ENSP00000390600:I514S	ENSP00000390600:I514S	I	-	2	0	SCN10A	38768928	0.072000	0.21174	0.042000	0.18584	0.375000	0.29983	0.258000	0.18387	-0.149000	0.11215	-0.566000	0.04163	ATC		0.597	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38793988	38793988	+	Missense_Mutation	SNP	C	C	T	rs146596599		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38793988C>T	ENST00000449082.2	-	11	1476	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	493					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A493T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTCCAGAGGCGAGGCCTAGA	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18424	0.0		0.0	False		,,,				2504	0.0				p.A493T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477A	3						.	C	THR/ALA	1,4405		0,1,2202	24.0	26.0	25.0		1477	-4.2	0.0	3	dbSNP_134	25	0,8600		0,0,4300	no	missense	SCN10A	NM_006514.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	493/1957	38793988	1,13005	2203	4300	6503	38768992	SO:0001583	missense	6336	exon11			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1477G>A	3.37:g.38793988C>T	ENSP00000390600:p.Ala493Thr		38768992	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	4.541	0.100380	0.08731	2.27E-4	0.0	ENSG00000185313	ENST00000449082	D	0.95447	-3.71	4.8	-4.15	0.03881	.	2.885830	0.00691	N	0.000734	D	0.83543	0.5277	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83475	0.0061	10	0.02654	T	1	.	8.4211	0.32700	0.1112:0.4779:0.0:0.4109	.	493	Q9Y5Y9	SCNAA_HUMAN	T	493	ENSP00000390600:A493T	ENSP00000390600:A493T	A	-	1	0	SCN10A	38768992	0.000000	0.05858	0.036000	0.18154	0.762000	0.43233	-0.784000	0.04633	-0.814000	0.04352	-1.280000	0.01385	GCC		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38802855	38802855	+	Silent	SNP	C	C	T	rs555884132		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38802855C>T	ENST00000449082.2	-	6	710	c.711G>A	c.(709-711)ggG>ggA	p.G237G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	237					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G237G(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAATCAGGGCCCCCACAATGA	0.522																																					p.G237G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	3						.						69.0	66.0	67.0					3																	38802855		2203	4300	6503	38777859	SO:0001819	synonymous_variant	6336	exon6			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.711G>A	3.37:g.38802855C>T			38777859	NM_006514	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN10A	6336	broad.mit.edu	37	3	38835242	38835242	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38835242C>T	ENST00000449082.2	-	1	259	c.260G>A	c.(259-261)aGc>aAc	p.S87N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	87					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S87N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCGGTGTGTGCTGTAGAACGG	0.572																																					p.S87N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	3						.						155.0	159.0	158.0					3																	38835242		2203	4300	6503	38810246	SO:0001583	missense	6336	exon1			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.260G>A	3.37:g.38835242C>T	ENSP00000390600:p.Ser87Asn		38810246	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	7.601	0.672704	0.14776	.	.	ENSG00000185313	ENST00000449082	D	0.95756	-3.8	5.19	1.41	0.22369	.	0.534764	0.22637	N	0.057520	D	0.91791	0.7403	L	0.59436	1.845	0.09310	N	0.999994	B	0.14438	0.01	B	0.12156	0.007	T	0.79985	-0.1572	10	0.20046	T	0.44	.	8.9326	0.35680	0.0:0.5646:0.0:0.4354	.	87	Q9Y5Y9	SCNAA_HUMAN	N	87	ENSP00000390600:S87N	ENSP00000390600:S87N	S	-	2	0	SCN10A	38810246	0.000000	0.05858	0.991000	0.47740	0.740000	0.42216	-0.748000	0.04818	0.371000	0.24564	-0.251000	0.11542	AGC		0.572	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	broad.mit.edu	37	3	38888584	38888584	+	Silent	SNP	G	G	A	rs150087925	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38888584G>A	ENST00000302328.3	-	26	5175	c.4977C>T	c.(4975-4977)gtC>gtT	p.V1659V	SCN11A_ENST00000450244.1_Silent_p.V1659V|SCN11A_ENST00000456224.3_Silent_p.V1621V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1659					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1659V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGGCTTTGCGACACGCAAAG	0.438																																					p.V1659V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4977T	3						.	G		2,4404	4.2+/-10.8	0,2,2201	92.0	95.0	94.0		4977	0.1	0.8	3	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SCN11A	NM_014139.2		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		1659/1792	38888584	4,13002	2203	4300	6503	38863588	SO:0001819	synonymous_variant	11280	exon26			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4977C>T	3.37:g.38888584G>A			38863588	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38889018	38889018	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38889018C>A	ENST00000302328.3	-	26	4741	c.4543G>T	c.(4543-4545)Ggt>Tgt	p.G1515C	SCN11A_ENST00000450244.1_Missense_Mutation_p.G1515C|SCN11A_ENST00000456224.3_Missense_Mutation_p.G1477C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1515					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1515C(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGTTCATACCCAGAATGGCA	0.418																																					p.G1515C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4543T	3						.						81.0	81.0	81.0					3																	38889018		2203	4300	6503	38864022	SO:0001583	missense	11280	exon26			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4543G>T	3.37:g.38889018C>A	ENSP00000307599:p.Gly1515Cys		38864022	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765414	0.69878	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97665	-4.48;-4.48;-4.48	5.67	5.67	0.87782	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	.	19.7659	0.96340	0.0:1.0:0.0:0.0	.	1515	Q9UI33	SCNBA_HUMAN	C	1515;1515;1477	ENSP00000307599:G1515C;ENSP00000400945:G1515C;ENSP00000416757:G1477C	ENSP00000307599:G1515C	G	-	1	0	SCN11A	38864022	1.000000	0.71417	0.689000	0.30133	0.363000	0.29612	7.811000	0.86092	2.663000	0.90544	0.637000	0.83480	GGT		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38892219	38892219	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38892219G>A	ENST00000302328.3	-	25	4278	c.4080C>T	c.(4078-4080)ttC>ttT	p.F1360F	SCN11A_ENST00000450244.1_Silent_p.F1360F|SCN11A_ENST00000456224.3_Silent_p.F1322F|SCN11A_ENST00000444237.2_Silent_p.F1360F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1360					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1360F(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACTATGTCGAACACGAGAC	0.313																																					p.F1360F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4080T	3						.						122.0	113.0	116.0					3																	38892219		2203	4300	6503	38867223	SO:0001819	synonymous_variant	11280	exon25			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4080C>T	3.37:g.38892219G>A			38867223	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	CCDS33737.1																																																																																				0.313	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38926864	38926864	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38926864T>G	ENST00000302328.3	-	17	3177	c.2979A>C	c.(2977-2979)gaA>gaC	p.E993D	SCN11A_ENST00000450244.1_Missense_Mutation_p.E993D|SCN11A_ENST00000456224.3_Missense_Mutation_p.E955D|SCN11A_ENST00000444237.2_Missense_Mutation_p.E993D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	993					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E993D(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTGCTACATTCTGATAGTA	0.428																																					p.E993D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2979C	3						.						145.0	132.0	137.0					3																	38926864		2203	4300	6503	38901868	SO:0001583	missense	11280	exon17			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2979A>C	3.37:g.38926864T>G	ENSP00000307599:p.Glu993Asp		38901868	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877339	0.72294	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.06	-2.58	0.06228	Sodium ion transport-associated (1);	65.989700	0.02430	U	0.083493	T	0.81640	0.4865	M	0.71581	2.175	0.32733	N	0.5088	B	0.20550	0.046	B	0.22601	0.04	T	0.65833	-0.6072	10	0.87932	D	0	.	0.3553	0.00355	0.2852:0.2552:0.1335:0.3261	.	993	Q9UI33	SCNBA_HUMAN	D	993;993;955;993	ENSP00000307599:E993D;ENSP00000400945:E993D;ENSP00000416757:E955D;ENSP00000408028:E993D	ENSP00000307599:E993D	E	-	3	2	SCN11A	38901868	0.993000	0.37304	0.929000	0.37066	0.996000	0.88848	-0.029000	0.12329	-0.182000	0.10602	0.533000	0.62120	GAA		0.428	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38927672	38927672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38927672C>A	ENST00000302328.3	-	16	3091	c.2893G>T	c.(2893-2895)Gaa>Taa	p.E965*	SCN11A_ENST00000450244.1_Nonsense_Mutation_p.E965*|SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.E965*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	965					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E965*(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCAATTTCCACACTTTGA	0.463																																					p.E965X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2893T	3						.						138.0	124.0	129.0					3																	38927672		2203	4300	6503	38902676	SO:0001587	stop_gained	11280	exon16			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2893G>T	3.37:g.38927672C>A	ENSP00000307599:p.Glu965*		38902676	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	40	7.967004	0.98585	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000444237	.	.	.	4.43	3.52	0.40303	.	787.273000	0.00166	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	9.9316	0.41525	0.0:0.7927:0.2073:0.0	.	.	.	.	X	965	.	ENSP00000307599:E965X	E	-	1	0	SCN11A	38902676	0.928000	0.31464	0.955000	0.39395	0.122000	0.20287	3.334000	0.52097	1.018000	0.39521	0.563000	0.77884	GAA		0.463	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38950669	38950669	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38950669C>A	ENST00000302328.3	-	9	1316	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000450244.1_Missense_Mutation_p.G373V|SCN11A_ENST00000456224.3_Missense_Mutation_p.G373V|SCN11A_ENST00000444237.2_Missense_Mutation_p.G373V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	373					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G373V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAGTAGAGCCCAGTAGTACG	0.458																																					p.G373V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	3						.						129.0	126.0	127.0					3																	38950669		2203	4300	6503	38925673	SO:0001583	missense	11280	exon9			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1118G>T	3.37:g.38950669C>A	ENSP00000307599:p.Gly373Val		38925673	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857722	0.91433	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	5.2	5.2	0.72013	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98965	1.0799	10	0.87932	D	0	.	18.7324	0.91739	0.0:1.0:0.0:0.0	.	373	Q9UI33	SCNBA_HUMAN	V	373	ENSP00000307599:G373V;ENSP00000400945:G373V;ENSP00000416757:G373V;ENSP00000408028:G373V	ENSP00000307599:G373V	G	-	2	0	SCN11A	38925673	1.000000	0.71417	0.076000	0.20297	0.384000	0.30261	7.704000	0.84595	2.431000	0.82371	0.460000	0.39030	GGG		0.458	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
SCN11A	11280	broad.mit.edu	37	3	38986936	38986936	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:38986936T>C	ENST00000302328.3	-	3	652	c.454A>G	c.(454-456)Aaa>Gaa	p.K152E	SCN11A_ENST00000450244.1_Missense_Mutation_p.K152E|SCN11A_ENST00000456224.3_Missense_Mutation_p.K152E|SCN11A_ENST00000444237.2_Missense_Mutation_p.K152E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	152					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K152E(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ttgctgtttttagcaggccct	0.398																																					p.K152E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454G	3						.						153.0	139.0	144.0					3																	38986936		2203	4300	6503	38961940	SO:0001583	missense	11280	exon3			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.454A>G	3.37:g.38986936T>C	ENSP00000307599:p.Lys152Glu		38961940	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	1.688	-0.504708	0.04261	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.07	2.56	0.30785	.	1.628810	0.03467	N	0.213091	D	0.91365	0.7276	N	0.04203	-0.255	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	D	0.84325	0.0518	10	0.72032	D	0.01	.	4.7905	0.13247	0.0:0.1734:0.159:0.6676	.	152	Q9UI33	SCNBA_HUMAN	E	152	ENSP00000307599:K152E;ENSP00000400945:K152E;ENSP00000416757:K152E;ENSP00000408028:K152E	ENSP00000307599:K152E	K	-	1	0	SCN11A	38961940	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.111000	0.15458	0.324000	0.23333	0.459000	0.35465	AAA		0.398	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
TTC21A	199223	broad.mit.edu	37	3	39177902	39177902	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:39177902T>G	ENST00000431162.2	+	23	3154	c.3020T>G	c.(3019-3021)cTt>cGt	p.L1007R	TTC21A_ENST00000301819.6_Missense_Mutation_p.L1008R|TTC21A_ENST00000440121.1_Missense_Mutation_p.L959R|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1007								p.L1008R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTGGAAAACTTGAAGACATT	0.423																																					p.L959R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2876G	3						.						151.0	153.0	152.0					3																	39177902		1874	4101	5975	39152906	SO:0001583	missense	199223	exon22			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3020T>G	3.37:g.39177902T>G	ENSP00000398211:p.Leu1007Arg		39152906	NM_001105513	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801372	0.70567	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.39787	1.06;1.06;1.06	4.79	4.79	0.61399	Tetratricopeptide repeat-containing (1);	0.104379	0.39615	N	0.001309	T	0.67970	0.2950	M	0.88640	2.97	0.47276	D	0.999375	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.74023	0.982;0.976;0.946	T	0.73678	-0.3907	10	0.51188	T	0.08	-7.0843	13.327	0.60465	0.0:0.0:0.0:1.0	.	959;1008;1007	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	R	1008;990;1007;959	ENSP00000301819:L1008R;ENSP00000398211:L1007R;ENSP00000410882:L959R	ENSP00000301819:L1008R	L	+	2	0	TTC21A	39152906	1.000000	0.71417	0.972000	0.41901	0.702000	0.40608	7.535000	0.82014	1.798000	0.52647	0.379000	0.24179	CTT		0.423	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
XIRP1	165904	broad.mit.edu	37	3	39230653	39230653	+	Missense_Mutation	SNP	C	C	T	rs371716831		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:39230653C>T	ENST00000340369.3	-	2	512	c.284G>A	c.(283-285)cGc>cAc	p.R95H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R95H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	95					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.R95H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGATCCAGCGCATGCACTG	0.622																																					p.R95H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	3						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	71.0	70.0	70.0		284,284	4.9	1.0	3		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	XIRP1	NM_001198621.1,NM_194293.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	95/1122,95/1844	39230653	1,13005	2203	4300	6503	39205657	SO:0001583	missense	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.284G>A	3.37:g.39230653C>T	ENSP00000343140:p.Arg95His		39205657	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808871	0.70797	0.0	1.16E-4	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.39056	1.1;1.1	4.93	4.93	0.64822	.	0.122356	0.53938	U	0.000056	T	0.64260	0.2582	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.68183	-0.5476	10	0.87932	D	0	.	16.048	0.80734	0.0:1.0:0.0:0.0	.	95;95	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	95	ENSP00000379550:R95H;ENSP00000343140:R95H	ENSP00000343140:R95H	R	-	2	0	XIRP1	39205657	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.884000	0.63135	2.465000	0.83290	0.655000	0.94253	CGC		0.622	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
CX3CR1	1524	broad.mit.edu	37	3	39307689	39307689	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:39307689G>T	ENST00000541347.1	-	2	551	c.312C>A	c.(310-312)ttC>ttA	p.F104L	CX3CR1_ENST00000358309.3_Missense_Mutation_p.F136L|CX3CR1_ENST00000399220.2_Missense_Mutation_p.F104L|CX3CR1_ENST00000542107.1_Missense_Mutation_p.F104L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	104					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)	p.F104L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGCGGTAGTGAATTTGCACA	0.478																																					p.F136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C408A	3						.						159.0	152.0	154.0					3																	39307689		1954	4146	6100	39282693	SO:0001583	missense	1524	exon2			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.312C>A	3.37:g.39307689G>T	ENSP00000439140:p.Phe104Leu		39282693	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.962827	0.00461	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.54	0.458	0.16670	GPCR, rhodopsin-like superfamily (1);	0.750955	0.13033	N	0.419172	T	0.07638	0.0192	N	0.00778	-1.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32375	-0.9909	10	0.02654	T	1	.	1.5238	0.02521	0.2787:0.2339:0.3677:0.1197	.	104	P49238	CX3C1_HUMAN	L	104;112;136;104;104;104;104	ENSP00000382166:F104L;ENSP00000351059:F136L;ENSP00000439140:F104L;ENSP00000444928:F104L;ENSP00000394960:F104L;ENSP00000408835:F104L	ENSP00000351059:F136L	F	-	3	2	CX3CR1	39282693	0.000000	0.05858	0.091000	0.20842	0.164000	0.22412	0.031000	0.13710	0.026000	0.15269	-0.136000	0.14681	TTC		0.478	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
ZNF621	285268	broad.mit.edu	37	3	40574077	40574077	+	Silent	SNP	C	C	T	rs566518778		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:40574077C>T	ENST00000339296.5	+	5	1268	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Silent_p.F161F|ZNF621_ENST00000403205.2_Silent_p.F272F|ZNF621_ENST00000490457.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	272					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.F272F(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		GGAAAGCTTTCGGTTGTAGGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22534	0.0		0.0	False		,,,				2504	0.001				p.F272F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	3						.						68.0	77.0	74.0					3																	40574077		2203	4300	6503	40549081	SO:0001819	synonymous_variant	285268	exon5			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.816C>T	3.37:g.40574077C>T			40549081	NM_001098414	Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	CCDS2693.1																																																																																				0.438	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484	
ULK4	54986	broad.mit.edu	37	3	41759321	41759321	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:41759321T>G	ENST00000301831.4	-	23	2816	c.2354A>C	c.(2353-2355)aAg>aCg	p.K785T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	785					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K785T(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGGAGTGGTCTTTCTGCTGTC	0.453																																					p.K785T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2354C	3						.						131.0	134.0	133.0					3																	41759321		2019	4199	6218	41734325	SO:0001583	missense	54986	exon23			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2354A>C	3.37:g.41759321T>G	ENSP00000301831:p.Lys785Thr		41734325	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230258	0.79688	.	.	ENSG00000168038	ENST00000301831	T	0.65732	-0.17	5.3	4.14	0.48551	Armadillo-type fold (2);	0.116985	0.56097	U	0.000038	T	0.70954	0.3283	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.71781	-0.4489	10	0.66056	D	0.02	.	10.807	0.46524	0.0:0.0747:0.0:0.9253	.	785	Q96C45	ULK4_HUMAN	T	785	ENSP00000301831:K785T	ENSP00000301831:K785T	K	-	2	0	ULK4	41734325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.254000	0.58798	0.870000	0.35726	0.459000	0.35465	AAG		0.453	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ULK4	54986	broad.mit.edu	37	3	41954312	41954312	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:41954312C>A	ENST00000301831.4	-	9	1345	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	ULK4_ENST00000420927.1_Missense_Mutation_p.D295Y	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	295					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D295Y(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGACTGAGATCTTCGACGCTT	0.383																																					p.D295Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G883T	3						.						94.0	91.0	92.0					3																	41954312		1900	4111	6011	41929316	SO:0001583	missense	54986	exon9			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.883G>T	3.37:g.41954312C>A	ENSP00000301831:p.Asp295Tyr		41929316	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876521	0.51801	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.68624	0.48;-0.34	5.17	5.17	0.71159	Protein kinase-like domain (1);	0.739085	0.13690	N	0.369606	T	0.68256	0.2981	M	0.62723	1.935	0.80722	D	1	P;P	0.50710	0.938;0.938	B;B	0.43536	0.423;0.423	T	0.73424	-0.3987	10	0.87932	D	0	.	15.576	0.76387	0.0:1.0:0.0:0.0	.	295;295	B4E2M4;Q96C45	.;ULK4_HUMAN	Y	295	ENSP00000301831:D295Y;ENSP00000412187:D295Y	ENSP00000301831:D295Y	D	-	1	0	ULK4	41929316	0.074000	0.21230	0.009000	0.14445	0.001000	0.01503	1.747000	0.38298	2.420000	0.82092	0.655000	0.94253	GAT		0.383	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
TRAK1	22906	broad.mit.edu	37	3	42242366	42242366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42242366G>T	ENST00000327628.5	+	12	1647	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I	TRAK1_ENST00000396175.1_Missense_Mutation_p.R358I|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.R358I|TRAK1_ENST00000449246.1_Missense_Mutation_p.R342I	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	416	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R358I(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GTCAAGCAGAGATCTCTGACC	0.572																																					p.R416I	GBM(44;195 884 22595 31865 41850)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1247T	3						.						145.0	126.0	132.0					3																	42242366		2203	4300	6503	42217370	SO:0001583	missense	22906	exon12				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1247G>T	3.37:g.42242366G>T	ENSP00000328998:p.Arg416Ile		42217370	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213063	0.95069	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.95	5.08	0.68730	Trafficking kinesin-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.991;1.0	D;D;D;D;P;D	0.79784	0.99;0.993;0.993;0.982;0.882;0.991	T	0.64271	-0.6447	10	0.62326	D	0.03	.	14.3226	0.66496	0.0706:0.0:0.9294:0.0	.	342;358;416;358;342;416	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	I	416;416;342;358;358;134	ENSP00000328998:R416I;ENSP00000410717:R342I;ENSP00000379478:R358I;ENSP00000340702:R358I;ENSP00000413729:R134I	ENSP00000328998:R416I	R	+	2	0	TRAK1	42217370	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	9.799000	0.99117	1.536000	0.49237	0.655000	0.94253	AGA		0.572	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
TRAK1	22906	broad.mit.edu	37	3	42251393	42251393	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42251393G>A	ENST00000327628.5	+	14	2279	c.1879G>A	c.(1879-1881)Gac>Aac	p.D627N	TRAK1_ENST00000396175.1_Missense_Mutation_p.D569N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.D569N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	627					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.D569N(4)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCCTTAACGACTTTGAAGA	0.587																																					p.D627N	GBM(44;195 884 22595 31865 41850)											.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1879A	3						.						138.0	123.0	128.0					3																	42251393		2203	4300	6503	42226397	SO:0001583	missense	22906	exon14				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1879G>A	3.37:g.42251393G>A	ENSP00000328998:p.Asp627Asn		42226397	NM_001042646	E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595021	0.86953	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175;ENST00000341421	T;T;T	0.21031	2.17;2.13;2.03	5.31	5.31	0.75309	.	0.113159	0.56097	D	0.000026	T	0.30916	0.0780	M	0.70595	2.14	0.58432	D	0.999996	D;D;D;D;D	0.62365	0.968;0.984;0.968;0.991;0.975	B;B;B;B;B	0.43754	0.248;0.248;0.248;0.43;0.335	T	0.25152	-1.0140	10	0.87932	D	0	.	17.9657	0.89099	0.0:0.0:1.0:0.0	.	553;569;627;569;627	B7Z218;C9JC32;B7Z347;Q9UPV9-2;Q9UPV9	.;.;.;.;TRAK1_HUMAN	N	627;627;569;569	ENSP00000328998:D627N;ENSP00000379478:D569N;ENSP00000340702:D569N	ENSP00000328998:D627N	D	+	1	0	TRAK1	42226397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.468000	0.83385	0.655000	0.94253	GAC		0.587	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
VIPR1	7433	broad.mit.edu	37	3	42573765	42573765	+	Missense_Mutation	SNP	G	G	A	rs200704872		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42573765G>A	ENST00000325123.4	+	10	1063	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	VIPR1_ENST00000438259.2_Missense_Mutation_p.R107Q|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.R276Q|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.R269Q|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	317					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.R317Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGCATCATCCGAATCCTGCTT	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18265	0.0		0.0	False		,,,				2504	0.0				p.R317Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G950A	3						.	G	GLN/ARG	0,4406		0,0,2203	156.0	143.0	147.0		950	4.6	1.0	3		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	VIPR1	NM_004624.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	317/458	42573765	1,13005	2203	4300	6503	42548769	SO:0001583	missense	7433	exon10			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.950G>A	3.37:g.42573765G>A	ENSP00000327246:p.Arg317Gln		42548769	NM_004624	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094534	0.94149	0.0	1.16E-4	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.071304	0.53938	D	0.000041	T	0.67144	0.2862	M	0.83692	2.655	0.58432	D	0.999994	D;D;D;D	0.76494	0.994;0.999;0.987;0.994	D;D;P;D	0.70227	0.964;0.968;0.757;0.964	T	0.72421	-0.4299	10	0.51188	T	0.08	.	17.4441	0.87574	0.0:0.0:1.0:0.0	.	290;107;269;317	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	Q	276;269;107;317	ENSP00000394950:R276Q;ENSP00000445701:R269Q;ENSP00000415371:R107Q;ENSP00000327246:R317Q	ENSP00000327246:R317Q	R	+	2	0	VIPR1	42548769	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.807000	0.69157	2.110000	0.64415	0.655000	0.94253	CGA		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
NKTR	4820	broad.mit.edu	37	3	42681071	42681071	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42681071G>T	ENST00000232978.8	+	13	4063	c.3875G>T	c.(3874-3876)aGa>aTa	p.R1292I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1292					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R1292I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CGTAGACCAAGAAATCAGGAG	0.428																																					p.R1292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3875T	3						.						78.0	77.0	77.0					3																	42681071		2203	4300	6503	42656075	SO:0001583	missense	4820	exon13				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.3875G>T	3.37:g.42681071G>T	ENSP00000232978:p.Arg1292Ile		42656075	NM_005385		Missense_Mutation	SNP	ENST00000232978.8	37	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356694	0.82243	.	.	ENSG00000114857	ENST00000232978	T	0.34667	1.35	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71909	-0.4450	10	0.87932	D	0	-24.9959	19.4228	0.94729	0.0:0.0:1.0:0.0	.	992;1292	Q6M1B8;P30414	.;NKTR_HUMAN	I	1292	ENSP00000232978:R1292I	ENSP00000232978:R1292I	R	+	2	0	NKTR	42656075	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.378000	0.97191	2.663000	0.90544	0.655000	0.94253	AGA		0.428	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
KLHL40	131377	broad.mit.edu	37	3	42729760	42729760	+	Missense_Mutation	SNP	C	C	T	rs577804609		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42729760C>T	ENST00000287777.4	+	2	1379	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	427					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.R427C(1)									GGACGGCGAGCGCTGCCTGGA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		12163	0.0		0.0	False		,,,				2504	0.001				p.R427C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1279T	3						.						51.0	47.0	48.0					3																	42729760		2203	4300	6503	42704764	SO:0001583	missense	131377	exon2			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1279C>T	3.37:g.42729760C>T	ENSP00000287777:p.Arg427Cys		42704764	NM_152393	Q86SI1|Q96MR2	Missense_Mutation	SNP	ENST00000287777.4	37	CCDS2703.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520481	0.44866	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.67698	-0.28	4.99	2.06	0.26882	Kelch-type beta propeller (1);	0.980252	0.08386	N	0.953749	T	0.59183	0.2175	L	0.43152	1.355	0.42006	D	0.990915	B	0.02656	0.0	B	0.01281	0.0	T	0.45948	-0.9226	10	0.51188	T	0.08	.	9.9993	0.41918	0.3926:0.4841:0.1232:0.0	.	427	Q2TBA0	KBTB5_HUMAN	C	427;172	ENSP00000287777:R427C	ENSP00000287777:R427C	R	+	1	0	KBTBD5	42704764	0.444000	0.25649	0.867000	0.34043	0.987000	0.75469	0.845000	0.27668	0.099000	0.17552	0.455000	0.32223	CGC		0.667	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393	
CCDC13	152206	broad.mit.edu	37	3	42788757	42788757	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42788757C>T	ENST00000310232.6	-	6	795	c.712G>A	c.(712-714)Gca>Aca	p.A238T	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13_ENST00000435327.2_5'Flank|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	238								p.A238T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACCTTCTGTGCCATCCGCAGC	0.592																																					p.A238T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	3						.						86.0	77.0	80.0					3																	42788757		2203	4300	6503	42763761	SO:0001583	missense	152206	exon6			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.712G>A	3.37:g.42788757C>T	ENSP00000309836:p.Ala238Thr		42763761	NM_144719		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360122	0.82353	.	.	ENSG00000244607	ENST00000310232	T	0.28666	1.6	5.1	5.1	0.69264	.	0.101382	0.64402	D	0.000003	T	0.46833	0.1413	L	0.49126	1.545	0.51012	D	0.9999	D;D	0.89917	0.995;1.0	D;D	0.87578	0.909;0.998	T	0.28713	-1.0035	10	0.36615	T	0.2	.	11.5563	0.50750	0.0:0.9131:0.0:0.0869	.	238;238	Q96LI1;Q8IYE1	.;CCD13_HUMAN	T	238	ENSP00000309836:A238T	ENSP00000309836:A238T	A	-	1	0	CCDC13	42763761	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.939000	0.56591	2.363000	0.80096	0.655000	0.94253	GCA		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
ACKR2	1238	broad.mit.edu	37	3	42906240	42906240	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42906240G>T	ENST00000422265.1	+	3	421	c.246G>T	c.(244-246)gaG>gaT	p.E82D	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.E82D|ACKR2_ENST00000442925.1_Missense_Mutation_p.E82D|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	82					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.E82D(1)									GGATGGTTGAGATCTATCTGC	0.542																																					p.E82D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G246T	3						.						177.0	156.0	163.0					3																	42906240		2203	4300	6503	42881244	SO:0001583	missense	1238	exon3			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.246G>T	3.37:g.42906240G>T	ENSP00000416996:p.Glu82Asp		42881244	NM_001296	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	2.795	-0.250420	0.05867	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.35605	1.3;1.3;1.3	5.28	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000144	T	0.12433	0.0302	N	0.04090	-0.28	0.80722	D	1	P;P	0.43169	0.8;0.58	B;B	0.37091	0.241;0.241	T	0.08513	-1.0718	9	.	.	.	.	2.6238	0.04924	0.1646:0.1442:0.5429:0.1484	.	82;82	O00590;Q7Z7I1	CCBP2_HUMAN;.	D	82	ENSP00000396150:E82D;ENSP00000416996:E82D;ENSP00000273145:E82D	.	E	+	3	2	CCBP2	42881244	0.269000	0.24143	0.106000	0.21319	0.217000	0.24651	0.340000	0.19892	0.620000	0.30215	0.563000	0.77884	GAG		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
ZNF662	389114	broad.mit.edu	37	3	42956255	42956255	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:42956255T>C	ENST00000541208.1	+	5	1059	c.690T>C	c.(688-690)agT>agC	p.S230S	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Silent_p.S230S|ZNF662_ENST00000328199.6_Silent_p.S256S|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S230S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGGCTTTCAGTTTTCGATCAC	0.418																																					p.S256S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T768C	3						.						109.0	110.0	110.0					3																	42956255		2203	4300	6503	42931259	SO:0001819	synonymous_variant	389114	exon4			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.690T>C	3.37:g.42956255T>C			42931259	NM_001134656	A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Silent	SNP	ENST00000541208.1	37	CCDS2708.1																																																																																				0.418	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404	
SNRK	54861	broad.mit.edu	37	3	43381804	43381804	+	Missense_Mutation	SNP	G	G	T	rs368466705		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:43381804G>T	ENST00000296088.7	+	5	1061	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	SNRK_ENST00000454177.1_Missense_Mutation_p.D253Y|SNRK_ENST00000429705.2_Missense_Mutation_p.D253Y|SNRK_ENST00000437827.1_Missense_Mutation_p.D47Y	NM_017719.4	NP_060189.3			SNF related kinase									p.D253Y(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GCTACAGAGAGATCCCAAGAG	0.423																																					p.D253Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G757T	3						.						195.0	191.0	192.0					3																	43381804		1865	4110	5975	43356808	SO:0001583	missense	54861	exon5			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.757G>T	3.37:g.43381804G>T	ENSP00000296088:p.Asp253Tyr		43356808	NM_017719		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951986	0.92660	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	D;D;D;T	0.86497	-2.13;-2.13;-2.13;-1.27	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	H	0.94734	3.575	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.96481	0.9356	10	0.87932	D	0	.	19.3838	0.94548	0.0:0.0:1.0:0.0	.	253	Q9NRH2	SNRK_HUMAN	Y	253;253;253;47	ENSP00000401246:D253Y;ENSP00000411375:D253Y;ENSP00000296088:D253Y;ENSP00000409516:D47Y	ENSP00000296088:D253Y	D	+	1	0	SNRK	43356808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.670000	0.90874	0.655000	0.94253	GAT		0.423	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	
ANO10	55129	broad.mit.edu	37	3	43596803	43596803	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:43596803G>A	ENST00000292246.3	-	10	1805	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F	ANO10_ENST00000350459.4_Silent_p.F355F|ANO10_ENST00000396091.3_Silent_p.F479F|ANO10_ENST00000414522.2_Silent_p.F545F|ANO10_ENST00000451430.2_Silent_p.F434F	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	545					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.F545F(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGGTTCTGAGAATGGACGTT	0.363																																					p.F545F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1635T	3						.						94.0	92.0	93.0					3																	43596803		2203	4300	6503	43571807	SO:0001819	synonymous_variant	55129	exon10			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1635C>T	3.37:g.43596803G>A			43571807	NM_018075	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Silent	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892624	0.17613	.	.	ENSG00000160746	ENST00000448045	.	.	.	5.52	2.29	0.28610	.	.	.	.	.	T	0.52403	0.1732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42649	-0.9439	4	.	.	.	.	5.5255	0.16955	0.5468:0.0:0.4532:0.0	.	.	.	.	F	34	.	.	S	-	2	0	ANO10	43571807	0.998000	0.40836	0.635000	0.29338	0.939000	0.58152	2.289000	0.43523	0.678000	0.31325	0.655000	0.94253	TCT		0.363	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075	
ZNF445	353274	broad.mit.edu	37	3	44489119	44489119	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44489119G>T	ENST00000396077.2	-	8	2391	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	ZNF445_ENST00000425708.2_Missense_Mutation_p.L682M	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	682					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L682M(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGCTGACACAGAAATGTTTTC	0.468																																					p.L682M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2044A	3						.						77.0	75.0	75.0					3																	44489119		2203	4300	6503	44464123	SO:0001583	missense	353274	exon8			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2044C>A	3.37:g.44489119G>T	ENSP00000379387:p.Leu682Met		44464123	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	5.740	0.320970	0.10845	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.61274	0.12;0.12	3.88	-7.76	0.01232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.326550	0.02051	N	0.050067	T	0.33352	0.0860	N	0.16656	0.425	0.09310	N	1	P;P	0.44309	0.728;0.832	B;B	0.39904	0.313;0.313	T	0.46247	-0.9205	10	0.59425	D	0.04	.	0.9001	0.01272	0.2844:0.2456:0.29:0.18	.	670;682	B7ZKX2;P59923	.;ZN445_HUMAN	M	682	ENSP00000413073:L682M;ENSP00000379387:L682M	ENSP00000379387:L682M	L	-	1	2	ZNF445	44464123	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-1.878000	0.01630	-1.789000	0.01264	-0.383000	0.06682	CTG		0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZNF445	353274	broad.mit.edu	37	3	44489817	44489817	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44489817C>A	ENST00000396077.2	-	8	1693	c.1346G>T	c.(1345-1347)aGa>aTa	p.R449I	ZNF445_ENST00000425708.2_Missense_Mutation_p.R449I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	449					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R449I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACTATGAATTCTCTGATGTAG	0.478																																					p.R449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346T	3						.						149.0	151.0	151.0					3																	44489817		2203	4300	6503	44464821	SO:0001583	missense	353274	exon8			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1346G>T	3.37:g.44489817C>A	ENSP00000379387:p.Arg449Ile		44464821	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301209	0.81136	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.18338	2.22;2.22	4.14	2.29	0.28610	.	0.546597	0.16935	N	0.193512	T	0.16769	0.0403	M	0.63843	1.955	0.41187	D	0.986277	P;P	0.37330	0.59;0.59	B;B	0.30646	0.118;0.118	T	0.07195	-1.0785	10	0.62326	D	0.03	.	11.0815	0.48062	0.3205:0.6795:0.0:0.0	.	437;449	B7ZKX2;P59923	.;ZN445_HUMAN	I	449	ENSP00000413073:R449I;ENSP00000379387:R449I	ENSP00000379387:R449I	R	-	2	0	ZNF445	44464821	0.000000	0.05858	0.024000	0.17045	0.731000	0.41821	-0.281000	0.08456	0.665000	0.31066	-0.467000	0.05162	AGA		0.478	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZKSCAN7	55888	broad.mit.edu	37	3	44609843	44609843	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44609843G>A	ENST00000273320.3	+	5	1158	c.729G>A	c.(727-729)aaG>aaA	p.K243K	ZKSCAN7_ENST00000426540.1_Silent_p.K243K|ZKSCAN7_ENST00000431636.1_Silent_p.K243K|RP11-944L7.5_ENST00000419137.1_Silent_p.K78K|ZKSCAN7_ENST00000341840.3_Silent_p.K243K|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	243	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.K243K(1)									ACACTCAGAAGAAATGGAAAA	0.473																																					p.K243K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	3						.						122.0	118.0	119.0					3																	44609843		2203	4300	6503	44584847	SO:0001819	synonymous_variant	55888	exon5			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.729G>A	3.37:g.44609843G>A			44584847	NM_025169	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	CCDS2715.1																																																																																				0.473	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZKSCAN7	55888	broad.mit.edu	37	3	44611916	44611916	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44611916C>A	ENST00000273320.3	+	6	1743	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	ZKSCAN7_ENST00000426540.1_Silent_p.P438P|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	438					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.P438P(1)									GGGAAAAACCCTATGAATGCA	0.463																																					p.P438P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1314A	3						.						39.0	41.0	40.0					3																	44611916		2203	4299	6502	44586920	SO:0001819	synonymous_variant	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1314C>A	3.37:g.44611916C>A			44586920	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	CCDS2715.1																																																																																				0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZKSCAN7	55888	broad.mit.edu	37	3	44612650	44612650	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44612650G>T	ENST00000273320.3	+	6	2477	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R683I|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	683					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.R683I(3)									GTACATCAGAGAACCCATACT	0.428																																					p.R683I												.	.	3	Substitution - Missense(3)	large_intestine(2)|breast(1)	c.G2048T	3						.						113.0	118.0	116.0					3																	44612650		2203	4300	6503	44587654	SO:0001583	missense	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2048G>T	3.37:g.44612650G>T	ENSP00000273320:p.Arg683Ile		44587654	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.938188	0.73557	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.02446	4.29;4.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.09113	0.0225	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.18147	-1.0346	10	0.72032	D	0.01	-11.2884	15.5027	0.75713	0.0:0.0:1.0:0.0	.	683	Q9P0L1	ZN167_HUMAN	I	683;683;121	ENSP00000395524:R683I;ENSP00000273320:R683I	ENSP00000273320:R683I	R	+	2	0	ZNF167	44587654	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.403000	0.20982	2.179000	0.69175	0.655000	0.94253	AGA		0.428	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZKSCAN7	55888	broad.mit.edu	37	3	44612832	44612832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44612832G>T	ENST00000273320.3	+	6	2659	c.2230G>T	c.(2230-2232)Gag>Tag	p.E744*	ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.E744*|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	744					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.E744*(1)									TCACACTGGAGAGAAGTCCTC	0.463																																					p.E744X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2230T	3						.						89.0	89.0	89.0					3																	44612832		2203	4300	6503	44587836	SO:0001587	stop_gained	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2230G>T	3.37:g.44612832G>T	ENSP00000273320:p.Glu744*		44587836	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	G	40	8.356794	0.98774	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	.	.	.	4.09	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.5487	11.2428	0.48979	0.0952:0.0:0.9048:0.0	.	.	.	.	X	744;744;182	.	ENSP00000273320:E744X	E	+	1	0	ZNF167	44587836	1.000000	0.71417	0.459000	0.27081	0.918000	0.54935	7.032000	0.76498	2.118000	0.64928	0.655000	0.94253	GAG		0.463	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZNF660	285349	broad.mit.edu	37	3	44636561	44636561	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44636561C>T	ENST00000322734.2	+	3	1209	c.876C>T	c.(874-876)caC>caT	p.H292H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H292H(1)		large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTATTCTACACTTGAGAACCC	0.403																																					p.H292H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	3						.						54.0	55.0	55.0					3																	44636561		2203	4300	6503	44611565	SO:0001819	synonymous_variant	285349	exon3			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.876C>T	3.37:g.44636561C>T			44611565	NM_173658	Q7Z331|Q8N9M8	Silent	SNP	ENST00000322734.2	37	CCDS2716.1																																																																																				0.403	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658	
ZNF197	10168	broad.mit.edu	37	3	44673979	44673979	+	Silent	SNP	C	C	T	rs377624140		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44673979C>T	ENST00000396058.1	+	4	824	c.657C>T	c.(655-657)ttC>ttT	p.F219F	ZNF197_ENST00000383745.2_Silent_p.F219F|ZNF197_ENST00000344387.4_Silent_p.F219F|ZNF197_ENST00000383744.4_Silent_p.F219F|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	219	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F219F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGGTGATGTTCGAGGAGGTGT	0.493																																					p.F219F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657T	3						.						296.0	250.0	266.0					3																	44673979		2203	4300	6503	44648983	SO:0001819	synonymous_variant	10168	exon5			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.657C>T	3.37:g.44673979C>T			44648983	NM_001024855	B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	CCDS2717.1																																																																																				0.493	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ZNF197	10168	broad.mit.edu	37	3	44683651	44683651	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44683651G>T	ENST00000396058.1	+	5	1196	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.K343N|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	343					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.K343N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAGGCCAAAAGTGGAAGGAAT	0.388																																					p.K343N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1029T	3						.						51.0	53.0	52.0					3																	44683651		2203	4300	6503	44658655	SO:0001583	missense	10168	exon6			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1029G>T	3.37:g.44683651G>T	ENSP00000379370:p.Lys343Asn		44658655	NM_006991	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	4.763	0.141900	0.09083	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.06768	3.26;3.26	4.27	2.41	0.29592	.	.	.	.	.	T	0.05227	0.0139	N	0.24115	0.695	0.09310	N	1	P	0.36616	0.561	B	0.33042	0.157	T	0.36529	-0.9744	9	0.54805	T	0.06	.	4.5141	0.11926	0.2018:0.186:0.6122:0.0	.	343	O14709	ZN197_HUMAN	N	343	ENSP00000345809:K343N;ENSP00000379370:K343N	ENSP00000345809:K343N	K	+	3	2	ZNF197	44658655	0.000000	0.05858	0.027000	0.17364	0.008000	0.06430	-0.630000	0.05502	0.517000	0.28361	0.455000	0.32223	AAG		0.388	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ZNF502	91392	broad.mit.edu	37	3	44762970	44762970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44762970C>T	ENST00000296091.4	+	4	917	c.661C>T	c.(661-663)Cga>Tga	p.R221*	ZNF502_ENST00000449836.1_Nonsense_Mutation_p.R221*|ZNF502_ENST00000436624.2_Nonsense_Mutation_p.R221*	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	221					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.R221*(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAACATTTCGATGTCGATC	0.398																																					p.R221X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C661T	3						.						160.0	166.0	164.0					3																	44762970		2203	4300	6503	44737974	SO:0001587	stop_gained	91392	exon4			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.661C>T	3.37:g.44762970C>T	ENSP00000296091:p.Arg221*		44737974	NM_033210		Nonsense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540358	0.65085	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	.	.	.	4.7	-0.894	0.10563	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-2.004	6.2691	0.20945	0.6231:0.2127:0.0:0.1641	.	.	.	.	X	221	.	ENSP00000296091:R221X	R	+	1	2	ZNF502	44737974	0.000000	0.05858	0.042000	0.18584	0.995000	0.86356	-0.616000	0.05591	0.007000	0.14760	-0.182000	0.12963	CGA		0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
ZNF501	115560	broad.mit.edu	37	3	44776697	44776697	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44776697C>A	ENST00000396048.2	+	3	1221	c.784C>A	c.(784-786)Ctt>Att	p.L262I	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L262I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTCAGCACTTCTTCGACATCA	0.393																																					p.L262I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784A	3						.						63.0	64.0	64.0					3																	44776697		1993	4192	6185	44751701	SO:0001583	missense	115560	exon3			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.784C>A	3.37:g.44776697C>A	ENSP00000379363:p.Leu262Ile		44751701	NM_145044	B4DLY7|Q96NU9	Missense_Mutation	SNP	ENST00000396048.2	37	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	3.018	-0.202458	0.06219	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	T	0.07567	3.18	3.06	-4.77	0.03219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	N	0.17564	0.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45614	-0.9249	9	0.05351	T	0.99	.	0.2806	0.00244	0.2731:0.244:0.2525:0.2305	.	262	Q96CX3	ZN501_HUMAN	I	262;206	ENSP00000379363:L262I	ENSP00000330388:L206I	L	+	1	0	ZNF501	44751701	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-0.432000	0.06956	-0.963000	0.03600	-1.097000	0.02148	CTT		0.393	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4	NM_145044	
KIAA1143	57456	broad.mit.edu	37	3	44795812	44795812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44795812C>A	ENST00000296121.4	-	2	216	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	53								p.E53*(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TGTTCATCTTCTTTGTCACTG	0.418																																					p.E53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G157T	3						.						110.0	108.0	108.0					3																	44795812		2203	4297	6500	44770816	SO:0001587	stop_gained	57456	exon2			AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.157G>T	3.37:g.44795812C>A	ENSP00000296121:p.Glu53*		44770816	NM_020696	A8K0I4|Q96HJ8|Q9ULS7	Nonsense_Mutation	SNP	ENST00000296121.4	37	CCDS2721.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363371	0.95877	.	.	ENSG00000163807	ENST00000296121	.	.	.	5.56	5.56	0.83823	.	0.138088	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6152	19.5644	0.95388	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000296121:E53X	E	-	1	0	KIAA1143	44770816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.623000	0.67757	2.617000	0.88574	0.655000	0.94253	GAA		0.418	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696	
KIF15	56992	broad.mit.edu	37	3	44841853	44841853	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44841853T>G	ENST00000326047.4	+	11	1295	c.1146T>G	c.(1144-1146)gcT>gcG	p.A382A	KIF15_ENST00000425755.1_Silent_p.A17A	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	382					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A382A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGCTCCAAGCTGAAGTGAAGA	0.433																																					p.A382A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1146G	3						.						93.0	87.0	89.0					3																	44841853		2203	4300	6503	44816857	SO:0001819	synonymous_variant	56992	exon11			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1146T>G	3.37:g.44841853T>G			44816857	NM_020242	Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	37	CCDS33744.1																																																																																				0.433	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
KIF15	56992	broad.mit.edu	37	3	44882662	44882662	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44882662T>G	ENST00000326047.4	+	29	3666	c.3517T>G	c.(3517-3519)Ttg>Gtg	p.L1173V	KIF15_ENST00000425755.1_Missense_Mutation_p.L808V	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1173					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L1173V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TAAGACTTCTTTGGAACACCT	0.358																																					p.L1173V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3517G	3						.						70.0	75.0	73.0					3																	44882662		2203	4300	6503	44857666	SO:0001583	missense	56992	exon29			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3517T>G	3.37:g.44882662T>G	ENSP00000324020:p.Leu1173Val		44857666	NM_020242	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.299072	0.60195	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.74526	-0.85;1.27	6.17	2.55	0.30701	.	0.000000	0.41294	D	0.000911	T	0.70211	0.3198	L	0.27053	0.805	0.29918	N	0.822958	D	0.69078	0.997	P	0.56700	0.804	T	0.67696	-0.5604	10	0.66056	D	0.02	.	8.203	0.31436	0.0:0.352:0.0:0.648	.	1173	Q9NS87	KIF15_HUMAN	V	1173;1170;808	ENSP00000324020:L1173V;ENSP00000389982:L808V	ENSP00000324020:L1173V	L	+	1	2	KIF15	44857666	0.547000	0.26465	0.572000	0.28498	0.953000	0.61014	0.246000	0.18160	0.211000	0.20683	0.533000	0.62120	TTG		0.358	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
TGM4	7047	broad.mit.edu	37	3	44945382	44945382	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44945382C>A	ENST00000296125.4	+	9	1046	c.978C>A	c.(976-978)ttC>ttA	p.F326L	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	326					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.F326L(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)	GCAGGAATTTCCATGTGTGGA	0.592																																					p.F326L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C978A	3						.						88.0	94.0	92.0					3																	44945382		2203	4300	6503	44920386	SO:0001583	missense	7047	exon9			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.978C>A	3.37:g.44945382C>A	ENSP00000296125:p.Phe326Leu		44920386	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962231	0.53400	.	.	ENSG00000163810	ENST00000296125	T	0.52526	0.66	2.04	1.09	0.20402	Transglutaminase-like (2);	0.000000	0.46758	U	0.000269	T	0.66538	0.2799	M	0.88450	2.955	0.45777	D	0.998667	D	0.89917	1.0	D	0.91635	0.999	T	0.67313	-0.5702	10	0.72032	D	0.01	.	5.8513	0.18694	0.0:0.7226:0.0:0.2774	.	326	P49221	TGM4_HUMAN	L	326	ENSP00000296125:F326L	ENSP00000296125:F326L	F	+	3	2	TGM4	44920386	1.000000	0.71417	0.112000	0.21494	0.013000	0.08279	1.184000	0.32053	1.038000	0.40049	0.462000	0.41574	TTC		0.592	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
TGM4	7047	broad.mit.edu	37	3	44948517	44948517	+	Silent	SNP	C	C	T	rs138265891	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:44948517C>T	ENST00000296125.4	+	10	1220	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	384					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.F384F(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)	ACACCAGATTCGTCTTCTCAG	0.512													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0				p.F384F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	3						.	C		4,4402	8.1+/-20.4	0,4,2199	123.0	110.0	115.0		1152	1.0	0.0	3	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	TGM4	NM_003241.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		384/685	44948517	4,13002	2203	4300	6503	44923521	SO:0001819	synonymous_variant	7047	exon10			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.1152C>T	3.37:g.44948517C>T			44923521	NM_003241	Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	CCDS2723.1																																																																																				0.512	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
EXOSC7	23016	broad.mit.edu	37	3	45030718	45030718	+	Silent	SNP	C	C	A	rs139012938		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:45030718C>A	ENST00000265564.7	+	2	192	c.144C>A	c.(142-144)tcC>tcA	p.S48S	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	48					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)	p.S48S(1)		endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CTAGTGGGTCCGCCAGGGTCA	0.542																																					p.S48S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144A	3						.						156.0	128.0	138.0					3																	45030718		2203	4300	6503	45005722	SO:0001819	synonymous_variant	23016	exon2			BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.144C>A	3.37:g.45030718C>A			45005722	NM_015004	Q96E72	Silent	SNP	ENST00000265564.7	37	CCDS2725.1																																																																																				0.542	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004	
LARS2	23395	broad.mit.edu	37	3	45441742	45441742	+	Silent	SNP	G	G	A	rs368047098		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:45441742G>A	ENST00000415258.1	+	3	381	c.240G>A	c.(238-240)tcG>tcA	p.S80S	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S80S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	80					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.S80S(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CCTAGAAATCGAAGCCAAAAT	0.388																																					p.S80S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G240A	3						.	G		0,4406		0,0,2203	148.0	132.0	137.0		240	-2.9	1.0	3		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LARS2	NM_015340.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		80/904	45441742	1,13005	2203	4300	6503	45416746	SO:0001819	synonymous_variant	23395	exon4			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.240G>A	3.37:g.45441742G>A			45416746	NM_015340		Silent	SNP	ENST00000415258.1	37	CCDS2728.1																																																																																				0.388	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340	
SACM1L	22908	broad.mit.edu	37	3	45751128	45751128	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:45751128C>A	ENST00000389061.5	+	5	676	c.472C>A	c.(472-474)Ctc>Atc	p.L158I	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.L97I|SACM1L_ENST00000418611.1_Missense_Mutation_p.L55I	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	158	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.L158I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		AGAAATGAGTCTCTTGGAAAG	0.323																																					p.L158I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472A	3						.						80.0	76.0	77.0					3																	45751128		2203	4300	6503	45726132	SO:0001583	missense	22908	exon5			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.472C>A	3.37:g.45751128C>A	ENSP00000373713:p.Leu158Ile		45726132	NM_014016	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151471	0.78001	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000438671;ENST00000541314	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.08	5.2	0.72013	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.74258	2.255	0.47547	D	0.999458	P;P	0.49696	0.872;0.927	P;P	0.54706	0.759;0.759	T	0.70212	-0.4934	10	0.48119	T	0.1	-21.9755	11.0188	0.47705	0.1307:0.8032:0.0:0.0661	.	97;158	B4DK71;Q9NTJ5	.;SAC1_HUMAN	I	55;158;97;97	ENSP00000396387:L55I;ENSP00000373713:L158I;ENSP00000411966:L97I;ENSP00000443373:L97I	ENSP00000373713:L158I	L	+	1	0	SACM1L	45726132	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.763000	0.55257	1.569000	0.49696	0.591000	0.81541	CTC		0.323	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
SACM1L	22908	broad.mit.edu	37	3	45785122	45785122	+	Silent	SNP	C	C	T	rs376313343		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:45785122C>T	ENST00000389061.5	+	20	1929	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	RN7SL145P_ENST00000469955.2_RNA|SACM1L_ENST00000541314.1_Silent_p.V514V|SACM1L_ENST00000418611.1_Silent_p.V472V	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	575					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.V575V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		AAGATTTTGTCGATGCTCCCA	0.428																																					p.V575V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1725T	3						.	T		0,4406		0,0,2203	134.0	134.0	134.0		1725	-10.9	0.4	3		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SACM1L	NM_014016.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		575/588	45785122	1,13005	2203	4300	6503	45760126	SO:0001819	synonymous_variant	22908	exon20			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1725C>T	3.37:g.45785122C>T			45760126	NM_014016	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Silent	SNP	ENST00000389061.5	37	CCDS33745.1																																																																																				0.428	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016	
CCR9	10803	broad.mit.edu	37	3	45943015	45943015	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:45943015G>T	ENST00000357632.2	+	3	915	c.735G>T	c.(733-735)aaG>aaT	p.K245N	CCR9_ENST00000395963.2_Missense_Mutation_p.K233N|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.K233N|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000539217.1_Intron|Y_RNA_ENST00000364765.1_RNA	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	245					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.K245N(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACAAGCCAAGAAGTCTTCCA	0.483																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	3						.						215.0	180.0	191.0					3																	45943015		2203	4300	6503	45918019	SO:0001583	missense	10803	exon2			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.735G>T	3.37:g.45943015G>T	ENSP00000350256:p.Lys245Asn		45918019	NM_006641	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463270	0.63513	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37584	1.19;1.19;1.19	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.332930	0.30920	N	0.008601	T	0.48874	0.1524	M	0.66439	2.03	0.46185	D	0.998911	P	0.42620	0.785	P	0.55455	0.776	T	0.52283	-0.8596	10	0.72032	D	0.01	.	6.4459	0.21875	0.2285:0.0:0.7715:0.0	.	245	P51686	CCR9_HUMAN	N	245;233;233	ENSP00000350256:K245N;ENSP00000379292:K233N;ENSP00000348260:K233N	ENSP00000348260:K233N	K	+	3	2	CCR9	45918019	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.117000	0.50407	2.289000	0.77006	0.563000	0.77884	AAG		0.483	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
FYCO1	79443	broad.mit.edu	37	3	46014657	46014657	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46014657G>T	ENST00000296137.2	-	6	667	c.462C>A	c.(460-462)ctC>ctA	p.L154L	FYCO1_ENST00000535325.1_Silent_p.L154L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	154	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.L154L(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAGCTCATAGAGTTGGCCCA	0.478																																					p.L154L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C462A	3						.						110.0	105.0	106.0					3																	46014657		2203	4300	6503	45989661	SO:0001819	synonymous_variant	79443	exon6			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.462C>A	3.37:g.46014657G>T			45989661	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1																																																																																				0.478	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
CCR3	1232	broad.mit.edu	37	3	46307077	46307077	+	Missense_Mutation	SNP	G	G	A	rs56177184	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46307077G>A	ENST00000357422.2	+	4	971	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	CCR3_ENST00000395940.2_Missense_Mutation_p.R143Q|CCR3_ENST00000395942.2_Missense_Mutation_p.R143Q|CCR3_ENST00000545097.1_Missense_Mutation_p.R164Q|CCR3_ENST00000541018.1_Missense_Mutation_p.R143Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	143					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.R143Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TTTGCCCTTCGAGCCCGGACT	0.498													G|||	3	0.000599042	0.0015	0.0	5008	,	,		19428	0.001		0.0	False		,,,				2504	0.0				p.R164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	3						.						89.0	85.0	87.0					3																	46307077		2203	4300	6503	46282081	SO:0001583	missense	1232	exon3			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.428G>A	3.37:g.46307077G>A	ENSP00000350003:p.Arg143Gln		46282081	NM_178328	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	CCDS2738.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	15.79	2.936696	0.52972	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	5.86	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.266926	0.25288	N	0.031743	T	0.50343	0.1610	M	0.64080	1.96	0.09310	N	1	P;D	0.56746	0.938;0.977	P;P	0.53593	0.511;0.73	T	0.43861	-0.9365	10	0.66056	D	0.02	.	11.1683	0.48556	0.3112:0.0:0.6888:0.0	rs56177184	164;143	F5GWL6;P51677	.;CCR3_HUMAN	Q	143;164;143;143;143	ENSP00000350003:R143Q;ENSP00000441600:R164Q;ENSP00000440097:R143Q;ENSP00000379271:R143Q;ENSP00000379273:R143Q	ENSP00000350003:R143Q	R	+	2	0	CCR3	46282081	0.000000	0.05858	0.126000	0.21872	0.665000	0.39181	0.257000	0.18369	0.817000	0.34445	-0.140000	0.14226	CGA		0.498	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2		
CCR3	1232	broad.mit.edu	37	3	46307366	46307366	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46307366G>A	ENST00000357422.2	+	4	1260	c.717G>A	c.(715-717)cgG>cgA	p.R239R	CCR3_ENST00000395940.2_Silent_p.R239R|CCR3_ENST00000395942.2_Silent_p.R239R|CCR3_ENST00000545097.1_Silent_p.R260R|CCR3_ENST00000541018.1_Silent_p.R239R			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.R239R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGGCCATCCGGCTCATTTTTG	0.448																																					p.R260R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G780A	3						.						75.0	74.0	74.0					3																	46307366		2203	4300	6503	46282370	SO:0001819	synonymous_variant	1232	exon3			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.717G>A	3.37:g.46307366G>A			46282370	NM_178328	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	ENST00000357422.2	37	CCDS2738.1																																																																																				0.448	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2		
LRRC2	79442	broad.mit.edu	37	3	46574379	46574379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46574379C>A	ENST00000395905.3	-	5	903	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	LRRC2_ENST00000296144.3_Nonsense_Mutation_p.E171*	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	171								p.E171*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ACATTGAGTTCTTTCAGGTTC	0.348																																					p.E171X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G511T	3						.						93.0	93.0	93.0					3																	46574379		2203	4300	6503	46549383	SO:0001587	stop_gained	79442	exon5			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.511G>T	3.37:g.46574379C>A	ENSP00000379241:p.Glu171*		46549383	NM_024512	B2RDQ7|Q96LT5	Nonsense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	37	6.301894	0.97458	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	.	.	.	5.41	5.41	0.78517	.	0.151910	0.44688	D	0.000438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.0743	0.86582	0.0:1.0:0.0:0.0	.	.	.	.	X	171	.	ENSP00000296144:E171X	E	-	1	0	LRRC2	46549383	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	6.912000	0.75753	2.707000	0.92482	0.563000	0.77884	GAA		0.348	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2		
LRRC2	79442	broad.mit.edu	37	3	46586715	46586715	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46586715C>T	ENST00000395905.3	-	3	546	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Missense_Mutation_p.E52K	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	52								p.E52K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTCCTGCATTCGGCCACAAAG	0.532																																					p.E52K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154A	3						.						80.0	79.0	80.0					3																	46586715		2203	4300	6503	46561719	SO:0001583	missense	79442	exon3			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.154G>A	3.37:g.46586715C>T	ENSP00000379241:p.Glu52Lys		46561719	NM_024512	B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566515	0.65651	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.17691	2.26;2.26	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	T	0.25568	0.0622	L	0.29908	0.895	0.44302	D	0.997172	D	0.76494	0.999	D	0.73380	0.98	T	0.01136	-1.1440	10	0.02654	T	1	.	16.762	0.85514	0.0:1.0:0.0:0.0	.	52	Q9BYS8	LRRC2_HUMAN	K	52	ENSP00000379241:E52K;ENSP00000296144:E52K	ENSP00000296144:E52K	E	-	1	0	LRRC2	46561719	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.958000	0.63660	2.635000	0.89317	0.655000	0.94253	GAA		0.532	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2		
CCDC12	151903	broad.mit.edu	37	3	46963756	46963756	+	Missense_Mutation	SNP	G	G	A	rs541633096		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:46963756G>A	ENST00000546280.1	-	6	435	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CCDC12_ENST00000605358.1_5'Flank|CCDC12_ENST00000292314.2_Missense_Mutation_p.R143W|CCDC12_ENST00000425441.1_Missense_Mutation_p.R143W	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	130								p.R130W(1)		endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CTCTGAGTCCGCTTTTTTAGT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.001				p.R143W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C427T	3						.						176.0	164.0	168.0					3																	46963756		2203	4300	6503	46938760	SO:0001583	missense	151903	exon6			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.388C>T	3.37:g.46963756G>A	ENSP00000441327:p.Arg130Trp		46938760	NM_144716	Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37		.	.	.	.	.	.	.	.	.	.	G	15.55	2.865355	0.51588	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280	.	.	.	4.91	0.0128	0.14093	.	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.86740	2.835	0.80722	D	1	D	0.54964	0.969	P	0.48063	0.565	T	0.77264	-0.2652	9	0.87932	D	0	.	13.104	0.59237	0.0:0.0:0.2706:0.7294	.	130	Q8WUD4	CCD12_HUMAN	W	143;143;130	.	ENSP00000292314:R143W	R	-	1	2	CCDC12	46938760	1.000000	0.71417	0.860000	0.33809	0.698000	0.40448	2.106000	0.41835	0.190000	0.20209	-1.431000	0.01090	CGG		0.617	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144716	
SETD2	29072	broad.mit.edu	37	3	47098948	47098948	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47098948C>T	ENST00000409792.3	-	15	6368	c.6326G>A	c.(6325-6327)cGa>cAa	p.R2109Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2109					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1606Q(1)|p.R2109Q(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTCTTTAATTCGTACTTTCTT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.R2109Q			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6326A	3						.						46.0	48.0	48.0					3																	47098948		2203	4300	6503	47073952	SO:0001583	missense	29072	exon15			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6326G>A	3.37:g.47098948C>T	ENSP00000386759:p.Arg2109Gln		47073952	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463361	0.84425	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.22945	1.93	4.84	4.84	0.62591	.	0.000000	0.49916	D	0.000134	T	0.40570	0.1122	L	0.47716	1.5	0.48040	D	0.999572	D;D	0.76494	0.999;0.999	P;P	0.57204	0.815;0.815	T	0.18681	-1.0329	10	0.59425	D	0.04	.	18.4955	0.90864	0.0:1.0:0.0:0.0	.	2109;2109	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2109	ENSP00000386759:R2109Q	ENSP00000386759:R2109Q	R	-	2	0	SETD2	47073952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.179000	0.58290	2.686000	0.91538	0.561000	0.74099	CGA		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
SETD2	29072	broad.mit.edu	37	3	47158131	47158131	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47158131C>T	ENST00000409792.3	-	4	4610	c.4568G>A	c.(4567-4569)cGt>cAt	p.R1523H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1523	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1523H(1)|p.R1020H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATGAGAAGACGATTAAGACA	0.338			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.R1523H			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4568A	3						.						130.0	130.0	130.0					3																	47158131		2203	4300	6503	47133135	SO:0001583	missense	29072	exon4			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4568G>A	3.37:g.47158131C>T	ENSP00000386759:p.Arg1523His		47133135	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	34	5.324399	0.95708	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.81996	-1.56	5.93	5.93	0.95920	AWS (2);	0.000000	0.56097	D	0.000021	D	0.94791	0.8318	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.95708	0.8755	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	1523;1523	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1523	ENSP00000386759:R1523H	ENSP00000386759:R1523H	R	-	2	0	SETD2	47133135	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.794000	0.85869	2.814000	0.96858	0.591000	0.81541	CGT		0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
SETD2	29072	broad.mit.edu	37	3	47161964	47161964	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47161964C>A	ENST00000409792.3	-	3	4204	c.4162G>T	c.(4162-4164)Gat>Tat	p.D1388Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1388					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.D885Y(1)|p.D1388Y(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGAAAAATCTTTCTTTTCA	0.358			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.D1388Y			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4162T	3						.						63.0	65.0	64.0					3																	47161964		2203	4300	6503	47136968	SO:0001583	missense	29072	exon3			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4162G>T	3.37:g.47161964C>A	ENSP00000386759:p.Asp1388Tyr		47136968	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902203	0.33628	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.89552	-2.53	5.18	5.18	0.71444	.	0.591211	0.15873	N	0.240423	T	0.81370	0.4808	N	0.19112	0.55	0.29097	N	0.881698	P;P	0.48162	0.906;0.906	B;B	0.38500	0.275;0.202	T	0.80037	-0.1550	10	0.87932	D	0	.	14.4781	0.67562	0.0:0.8533:0.1467:0.0	.	1388;1388	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	1388	ENSP00000386759:D1388Y	ENSP00000386759:D1388Y	D	-	1	0	SETD2	47136968	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.959000	0.49153	2.690000	0.91761	0.563000	0.77884	GAT		0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
SETD2	29072	broad.mit.edu	37	3	47164577	47164577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47164577C>A	ENST00000409792.3	-	3	1591	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	517					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.E517*(1)|p.E14*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTTAGATTCTCTTTCTAGT	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.E517X			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1549T	3						.						70.0	66.0	67.0					3																	47164577		2153	4187	6340	47139581	SO:0001587	stop_gained	29072	exon3			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.1549G>T	3.37:g.47164577C>A	ENSP00000386759:p.Glu517*		47139581	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	36	5.630334	0.96671	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.09	5.09	0.68999	.	0.201588	0.34725	N	0.003726	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.052	0.93050	0.0:1.0:0.0:0.0	.	.	.	.	X	517;517;517;473	.	ENSP00000386759:E517X	E	-	1	0	SETD2	47139581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.242000	0.51384	2.801000	0.96364	0.650000	0.86243	GAA		0.383	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
KIF9	64147	broad.mit.edu	37	3	47278101	47278101	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47278101C>T	ENST00000265529.3	-	19	2613	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	KIF9_ENST00000487440.1_5'Flank|KIF9_ENST00000335044.2_Missense_Mutation_p.E645K|KIF9_ENST00000452770.2_Missense_Mutation_p.E645K|KIF9_ENST00000444589.2_Missense_Mutation_p.E580K|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000352910.4_Missense_Mutation_p.E487K			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	645					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)	p.E645K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCTTGTTTTCGTACTTGCCT	0.527																																					p.E645K	Colon(44;962 1147 15977 24541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1933A	3						.						107.0	90.0	95.0					3																	47278101		2203	4300	6503	47253105	SO:0001583	missense	64147	exon18			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1933G>A	3.37:g.47278101C>T	ENSP00000265529:p.Glu645Lys		47253105	NM_182902	Q86Z28|Q9H8A4	Missense_Mutation	SNP	ENST00000265529.3	37	CCDS2752.1	.	.	.	.	.	.	.	.	.	.	C	4.433	0.080206	0.08533	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.67	4.79	0.61399	.	0.457832	0.25192	N	0.032455	T	0.32255	0.0823	L	0.36672	1.1	0.23848	N	0.996677	D;P	0.54964	0.969;0.469	B;B	0.42138	0.377;0.053	T	0.15464	-1.0436	10	0.07482	T	0.82	.	8.6646	0.34112	0.0:0.828:0.0:0.172	.	580;645	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	K	645;645;580;645;487	ENSP00000333942:E645K;ENSP00000265529:E645K;ENSP00000414987:E580K;ENSP00000391100:E645K;ENSP00000292334:E487K	ENSP00000265529:E645K	E	-	1	0	KIF9	47253105	0.627000	0.27129	0.803000	0.32268	0.154000	0.21943	0.986000	0.29590	1.398000	0.46701	0.561000	0.74099	GAA		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
KLHL18	23276	broad.mit.edu	37	3	47364191	47364191	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47364191C>T	ENST00000232766.5	+	3	414	c.394C>T	c.(394-396)Cga>Tga	p.R132*	KLHL18_ENST00000455924.2_Nonsense_Mutation_p.R20*	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	132								p.R132*(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CACATTCCTTCGAGAACGGTG	0.512																																					p.R132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C394T	3						.						71.0	63.0	66.0					3																	47364191		2203	4300	6503	47339195	SO:0001587	stop_gained	23276	exon3			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.394C>T	3.37:g.47364191C>T	ENSP00000232766:p.Arg132*		47339195	NM_025010	A8K612|Q7Z3E8|Q8N125	Nonsense_Mutation	SNP	ENST00000232766.5	37	CCDS33749.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910488	0.52439	.	.	ENSG00000114648	ENST00000232766;ENST00000437353;ENST00000455924	.	.	.	5.29	3.33	0.38152	.	0.212152	0.41712	D	0.000839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.3802	0.49752	0.512:0.488:0.0:0.0	.	.	.	.	X	132;132;20	.	ENSP00000232766:R132X	R	+	1	2	KLHL18	47339195	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	3.262000	0.51538	1.447000	0.47661	0.655000	0.94253	CGA		0.512	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010	
SCAP	22937	broad.mit.edu	37	3	47462478	47462478	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47462478G>T	ENST00000265565.5	-	11	1699	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.F37L|SCAP_ENST00000441517.2_Missense_Mutation_p.F174L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	429	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.F429L(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TCTGAAGGAAGAAGTCAGACA	0.592											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F429L	Pancreas(149;978 1908 29304 37806 46700)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1287A	3						.						138.0	128.0	132.0					3																	47462478		2203	4300	6503	47437482	SO:0001583	missense	22937	exon11			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1287C>A	3.37:g.47462478G>T	ENSP00000265565:p.Phe429Leu	947	47437482	NM_012235	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846987	0.91277	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	D;D;D	0.98493	-4.96;-4.96;-4.96	5.25	4.38	0.52667	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.88906	2.99	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	D	0.99647	1.0990	10	0.87932	D	0	-37.6014	13.6505	0.62308	0.0749:0.0:0.9251:0.0	.	174;429	F8W921;Q12770	.;SCAP_HUMAN	L	429;56;429;174;37;122	ENSP00000265565:F429L;ENSP00000416847:F174L;ENSP00000438956:F37L	ENSP00000265565:F429L	F	-	3	2	SCAP	47437482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.053000	0.64269	1.465000	0.48006	0.561000	0.74099	TTC		0.592	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
DHX30	22907	broad.mit.edu	37	3	47868873	47868873	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47868873A>C	ENST00000445061.1	+	5	568	c.161A>C	c.(160-162)aAa>aCa	p.K54T	DHX30_ENST00000446256.2_Missense_Mutation_p.K15T|DHX30_ENST00000348968.4_Missense_Mutation_p.K26T|DHX30_ENST00000457607.1_Missense_Mutation_p.K82T	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	54	DRBM.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.K54T(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCACAGCCCAAAAATCTTCTC	0.398																																					p.K54T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161C	3						.						82.0	81.0	82.0					3																	47868873		2203	4300	6503	47843877	SO:0001583	missense	22907	exon5			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.161A>C	3.37:g.47868873A>C	ENSP00000405620:p.Lys54Thr		47843877	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314412	0.81358	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.07444	3.27;3.23;3.26;3.19	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	L	0.59436	1.845	0.53688	D	0.999979	P;D;D	0.55172	0.95;0.97;0.97	D;D;D	0.76575	0.972;0.988;0.988	T	0.00376	-1.1779	10	0.87932	D	0	.	13.2371	0.59974	1.0:0.0:0.0:0.0	.	54;15;82	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	T	15;54;26;82	ENSP00000392601:K15T;ENSP00000405620:K54T;ENSP00000343442:K26T;ENSP00000394682:K82T	ENSP00000343442:K26T	K	+	2	0	DHX30	47843877	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.497000	0.66924	2.058000	0.61347	0.533000	0.62120	AAA		0.398	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
DHX30	22907	broad.mit.edu	37	3	47891174	47891174	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47891174C>A	ENST00000445061.1	+	21	3653	c.3246C>A	c.(3244-3246)tcC>tcA	p.S1082S	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Silent_p.S1043S|DHX30_ENST00000348968.4_Silent_p.S1054S|DHX30_ENST00000457607.1_Silent_p.S1110S	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1082						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.S1082S(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGTCAAGTCCAATGGCAGCG	0.627											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S1082S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3246A	3						.						91.0	82.0	85.0					3																	47891174		2203	4300	6503	47866178	SO:0001819	synonymous_variant	22907	exon21			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.3246C>A	3.37:g.47891174C>A		950	47866178	NM_138615	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	CCDS2759.1																																																																																				0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
MAP4	4134	broad.mit.edu	37	3	47956314	47956314	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:47956314C>A	ENST00000360240.6	-	8	2510	c.1992G>T	c.(1990-1992)gaG>gaT	p.E664D	MAP4_ENST00000395734.3_Missense_Mutation_p.E664D|MAP4_ENST00000426837.2_Missense_Mutation_p.E681D|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	664					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E664D(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TACCTGAGGTCTCTGAAGAAA	0.443																																					p.E664D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1992T	3						.						158.0	163.0	162.0					3																	47956314		2203	4300	6503	47931318	SO:0001583	missense	4134	exon8				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1992G>T	3.37:g.47956314C>A	ENSP00000353375:p.Glu664Asp		47931318	NM_001134364	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126683	0.56721	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.08896	3.11;3.04;3.11	3.93	3.93	0.45458	.	.	.	.	.	T	0.15176	0.0366	M	0.68317	2.08	0.80722	D	1	D;D;D	0.59357	0.985;0.981;0.985	P;P;P	0.51170	0.661;0.581;0.526	T	0.08146	-1.0736	9	0.18710	T	0.47	-0.0532	12.1566	0.54081	0.0:1.0:0.0:0.0	.	641;664;664	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	D	664;681;664	ENSP00000379083:E664D;ENSP00000407602:E681D;ENSP00000353375:E664D	ENSP00000353375:E664D	E	-	3	2	MAP4	47931318	0.963000	0.33076	0.997000	0.53966	0.996000	0.88848	2.966000	0.49208	2.112000	0.64535	0.563000	0.77884	GAG		0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375	
NME6	10201	broad.mit.edu	37	3	48338301	48338301	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48338301G>T	ENST00000452211.1	-	4	346	c.109C>A	c.(109-111)Cta>Ata	p.L37I	NME6_ENST00000426689.2_Missense_Mutation_p.L37I|NME6_ENST00000421967.1_Missense_Mutation_p.L45I|NME6_ENST00000447314.1_5'UTR|NME6_ENST00000442597.1_Missense_Mutation_p.L37I|NME6_ENST00000444069.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.L37I|NME6_ENST00000451657.1_Missense_Mutation_p.L37I|NME6_ENST00000426723.1_Missense_Mutation_p.L37I|NME6_ENST00000435684.1_Missense_Mutation_p.L37I|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000450160.1_Missense_Mutation_p.L37I|NME6_ENST00000415644.1_Missense_Mutation_p.L37I			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	37					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.L45I(1)		breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TTGTTGCTTAGAATCTGCTGA	0.423																																					p.L45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133A	3						.						137.0	123.0	128.0					3																	48338301		2203	4300	6503	48313305	SO:0001583	missense	10201	exon3			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.109C>A	3.37:g.48338301G>T	ENSP00000392352:p.Leu37Ile		48313305	NM_005793	B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	ENST00000452211.1	37		.	.	.	.	.	.	.	.	.	.	G	18.91	3.724158	0.68959	.	.	ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000426723;ENST00000450160;ENST00000415644;ENST00000415053;ENST00000442597;ENST00000451657;ENST00000435684;ENST00000425930;ENST00000456495;ENST00000447724	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	4.47	3.6	0.41247	.	0.073957	0.56097	D	0.000033	T	0.51160	0.1658	L	0.41632	1.29	0.35868	D	0.828026	D;P;P;B	0.61697	0.99;0.942;0.465;0.051	P;P;B;B	0.56960	0.81;0.714;0.384;0.098	T	0.55579	-0.8119	10	0.22109	T	0.4	-3.1981	7.0653	0.25149	0.2005:0.0:0.7995:0.0	.	37;37;37;37	O75414-2;O75414-3;O75414;C9J9V6	.;.;NDK6_HUMAN;.	I	45;37;37;37;37;37;37;37;37;37;37;37;44	ENSP00000416658:L45I;ENSP00000440286:L37I;ENSP00000392352:L37I;ENSP00000391499:L37I;ENSP00000398070:L37I;ENSP00000394232:L37I;ENSP00000399582:L37I;ENSP00000406642:L37I;ENSP00000407933:L37I;ENSP00000393261:L37I;ENSP00000411116:L37I;ENSP00000392715:L37I;ENSP00000405755:L44I	ENSP00000399582:L37I	L	-	1	2	NME6	48313305	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.577000	0.60922	1.264000	0.44198	0.650000	0.86243	CTA		0.423	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793	
FBXW12	285231	broad.mit.edu	37	3	48414804	48414804	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48414804A>G	ENST00000296438.5	+	3	283	c.97A>G	c.(97-99)Aat>Gat	p.N33D	FBXW12_ENST00000415155.1_Missense_Mutation_p.N33D|FBXW12_ENST00000445170.1_Missense_Mutation_p.N14D|FBXW12_ENST00000436231.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	33	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.N33D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATAGCATTGGAATAGGATTGC	0.512																																					p.N33D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A97G	3						.						209.0	204.0	206.0					3																	48414804		2203	4300	6503	48389808	SO:0001583	missense	285231	exon3			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.97A>G	3.37:g.48414804A>G	ENSP00000296438:p.Asn33Asp		48389808	NM_207102	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840172	0.51057	.	.	ENSG00000164049	ENST00000296438;ENST00000445170;ENST00000415155	T;T;T	0.45276	0.9;1.78;0.9	2.82	-1.14	0.09741	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.692440	0.13613	N	0.374982	T	0.55417	0.1919	H	0.94542	3.55	0.09310	N	1	P;P;P	0.52170	0.939;0.951;0.951	P;P;P	0.49502	0.479;0.613;0.613	T	0.51387	-0.8712	10	0.59425	D	0.04	-1.7481	4.3506	0.11153	0.3733:0.4875:0.1393:0.0	.	14;33;33	E9PG36;Q494Z0;Q6X9E4	.;.;FBW12_HUMAN	D	33;14;33	ENSP00000296438:N33D;ENSP00000406139:N14D;ENSP00000414683:N33D	ENSP00000296438:N33D	N	+	1	0	FBXW12	48389808	0.373000	0.25073	0.062000	0.19696	0.274000	0.26718	0.274000	0.18680	-0.219000	0.10003	0.377000	0.23210	AAT		0.512	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102	
PLXNB1	5364	broad.mit.edu	37	3	48453928	48453928	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48453928G>A	ENST00000358536.4	-	26	5225	c.4956C>T	c.(4954-4956)ttC>ttT	p.F1652F	PLXNB1_ENST00000358459.4_Silent_p.F1469F|PLXNB1_ENST00000448774.2_Silent_p.F263F|PLXNB1_ENST00000456774.1_Silent_p.F1469F|PLXNB1_ENST00000296440.6_Silent_p.F1652F|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1652					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.F1652F(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATGTCAGTGAAATACTCAA	0.592																																					p.F1652F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4956T	3						.						73.0	69.0	70.0					3																	48453928		2203	4300	6503	48428932	SO:0001819	synonymous_variant	5364	exon26			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4956C>T	3.37:g.48453928G>A			48428932	NM_002673	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																				0.592	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
COL7A1	1294	broad.mit.edu	37	3	48602258	48602258	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48602258C>T	ENST00000328333.8	-	117	8883	c.8776G>A	c.(8776-8778)Gag>Aag	p.E2926K	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.E2894K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2926	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E2926K(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCGGCGCTCGCAGGCCTCA	0.657																																					p.E2926K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8776A	3						.						37.0	36.0	36.0					3																	48602258		2203	4300	6503	48577262	SO:0001583	missense	1294	exon117			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8776G>A	3.37:g.48602258C>T	ENSP00000332371:p.Glu2926Lys		48577262	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221466	0.39300	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.60299	0.2;0.2	5.62	4.75	0.60458	Proteinase inhibitor I2, Kunitz metazoa (5);	0.160789	0.28230	N	0.016101	T	0.51958	0.1705	L	0.53561	1.675	0.40681	D	0.982302	B	0.31859	0.343	B	0.27076	0.076	T	0.56426	-0.7981	10	0.62326	D	0.03	.	13.203	0.59780	0.0:0.9223:0.0:0.0777	.	2926	Q02388	CO7A1_HUMAN	K	2926;2894	ENSP00000332371:E2926K;ENSP00000412569:E2894K	ENSP00000332371:E2926K	E	-	1	0	COL7A1	48577262	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	1.838000	0.39211	1.373000	0.46208	0.563000	0.77884	GAG		0.657	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
COL7A1	1294	broad.mit.edu	37	3	48619919	48619919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48619919C>A	ENST00000328333.8	-	45	4698	c.4591G>T	c.(4591-4593)Gga>Tga	p.G1531*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G1531*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1531	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1531*(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTCTCTCCTTGGCGGCCA	0.602																																					p.G1531X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4591T	3						.						97.0	102.0	101.0					3																	48619919		2203	4300	6503	48594923	SO:0001587	stop_gained	1294	exon45			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4591G>T	3.37:g.48619919C>A	ENSP00000332371:p.Gly1531*		48594923	NM_000094	Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	45	11.818278	0.99606	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.95	5.95	0.96441	.	0.000000	0.44285	D	0.000469	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5348	0.87827	0.0:1.0:0.0:0.0	.	.	.	.	X	1531	.	ENSP00000332371:G1531X	G	-	1	0	COL7A1	48594923	0.999000	0.42202	1.000000	0.80357	0.774000	0.43823	5.376000	0.66178	2.826000	0.97356	0.563000	0.77884	GGA		0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
COL7A1	1294	broad.mit.edu	37	3	48630046	48630046	+	Silent	SNP	G	G	A	rs121912830	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48630046G>A	ENST00000328333.8	-	7	1040	c.933C>T	c.(931-933)taC>taT	p.Y311Y	COL7A1_ENST00000454817.1_Silent_p.Y311Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	311	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y311Y(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCTGTTGGCGTAGAGGGCAA	0.637													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17644	0.001		0.0	False		,,,				2504	0.0				p.Y311Y												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C933T	3	GRCh37	CM950316	COL7A1	M	rs121912830	.	G		3,4403	8.1+/-20.4	0,3,2200	66.0	66.0	66.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	933	0.8	1.0	3	dbSNP_133	66	0,8600		0,0,4300	no	coding-synonymous	COL7A1	NM_000094.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		311/2945	48630046	3,13003	2203	4300	6503	48605050	SO:0001819	synonymous_variant	1294	exon7			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.933C>T	3.37:g.48630046G>A			48605050	NM_000094	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
COL7A1	1294	broad.mit.edu	37	3	48631006	48631006	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48631006G>T	ENST00000328333.8	-	3	497	c.390C>A	c.(388-390)gtC>gtA	p.V130V	COL7A1_ENST00000454817.1_Silent_p.V130V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	130	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V130V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGCAGGAAGACATGGTCAG	0.602																																					p.V130V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C390A	3						.						102.0	92.0	95.0					3																	48631006		2203	4300	6503	48606010	SO:0001819	synonymous_variant	1294	exon3			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.390C>A	3.37:g.48631006G>T			48606010	NM_000094	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.602	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
SLC25A20	788	broad.mit.edu	37	3	48929428	48929428	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:48929428C>A	ENST00000319017.4	-	2	381	c.183G>T	c.(181-183)aaG>aaT	p.K61N	SLC25A20_ENST00000430379.1_Missense_Mutation_p.K61N|SLC25A20_ENST00000544097.1_Missense_Mutation_p.K11N	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	61					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.K61N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TAAAAAGAGTCTTCCGGAAAC	0.478																																					p.K61N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G183T	3						.						127.0	123.0	124.0					3																	48929428		2203	4300	6503	48904432	SO:0001583	missense	788	exon2			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.183G>T	3.37:g.48929428C>A	ENSP00000326305:p.Lys61Asn		48904432	NM_000387	B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994748	0.74703	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	T;T;T	0.80566	-1.39;-1.39;-1.39	5.16	5.16	0.70880	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88757	0.6523	M	0.74546	2.27	0.80722	D	1	B;D	0.60575	0.376;0.988	B;D	0.65010	0.426;0.931	D	0.89266	0.3601	10	0.59425	D	0.04	-22.3046	17.5738	0.87942	0.0:1.0:0.0:0.0	.	61;61	C9JPE1;O43772	.;MCAT_HUMAN	N	61;61;11	ENSP00000388986:K61N;ENSP00000326305:K61N;ENSP00000438731:K11N	ENSP00000326305:K61N	K	-	3	2	SLC25A20	48904432	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.072000	0.50049	2.696000	0.92011	0.555000	0.69702	AAG		0.478	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387	
ARIH2	10425	broad.mit.edu	37	3	49008127	49008127	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49008127G>A	ENST00000356401.4	+	8	1099	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.E254K	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	254					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E254K(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCGGTGCAACGAGGTCTTCTG	0.587																																					p.E254K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G760A	3						.						84.0	81.0	82.0					3																	49008127		2203	4300	6503	48983131	SO:0001583	missense	10425	exon8			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.760G>A	3.37:g.49008127G>A	ENSP00000348769:p.Glu254Lys		48983131	NM_006321	Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928520	0.92389	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.80393	-1.37;-1.37	5.42	5.42	0.78866	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.81470	0.4829	N	0.25890	0.77	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.978	P;P;P	0.57468	0.689;0.821;0.585	T	0.79754	-0.1670	10	0.30854	T	0.27	.	19.206	0.93730	0.0:0.0:1.0:0.0	.	261;254;254	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	K	254;254;253;78	ENSP00000348769:E254K;ENSP00000403222:E254K	ENSP00000348769:E254K	E	+	1	0	ARIH2	48983131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.425000	0.97467	2.534000	0.85438	0.561000	0.74099	GAG		0.587	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	
QRICH1	54870	broad.mit.edu	37	3	49064469	49064469	+	IGR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49064469C>A	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.K181N	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)		p.K181N(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTCTTCCCTCTTTGTCATTA	0.498																																					p.K181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	3						.						173.0	159.0	164.0					3																	49064469		2203	4300	6503	49039473	SO:0001628	intergenic_variant	3615	exon6				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064469C>A			49039473	NM_000884	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.05|14.05	2.420143|2.420143	0.42918|0.42918	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.94138	.|-3.36;-3.36	6.08|6.08	4.24|4.24	0.50183|0.50183	.|Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (2);IMP dehydrogenase/GMP reductase (1);	.|0.130377	.|0.64402	.|D	.|0.000001	.|D	.|0.93485	.|0.7921	M|M	0.79258|0.79258	2.445|2.445	0.53005|0.53005	D|D	0.999961|0.999961	.|B	.|0.23490	.|0.086	.|B	.|0.34779	.|0.189	.|D	.|0.92589	.|0.6081	.|10	.|0.62326	.|D	.|0.03	-22.1256|-22.1256	12.5042|12.5042	0.55972|0.55972	0.0:0.8189:0.1173:0.0638|0.0:0.8189:0.1173:0.0638	.|.	.|181	.|P12268	.|IMDH2_HUMAN	X|N	113|181;181;156	.|ENSP00000321584:K181N;ENSP00000403502:K156N	.|ENSP00000321584:K181N	E|K	-|-	1|3	0|2	IMPDH2|IMPDH2	49039473|49039473	0.959000|0.959000	0.32827|0.32827	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.523000|1.523000	0.35932|0.35932	1.586000|1.586000	0.49944|0.49944	0.655000|0.655000	0.94253|0.94253	GAG|AAG		0.498	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
QRICH1	54870	broad.mit.edu	37	3	49065908	49065908	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49065908G>A	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Missense_Mutation_p.P69S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)		p.P69S(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGTCCATGGGAGAGGAAACC	0.552																																					p.P69S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C205T	3						.						70.0	70.0	70.0					3																	49065908		2203	4300	6503	49040912	SO:0001628	intergenic_variant	3615	exon3				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49065908G>A			49040912	NM_000884	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751669	0.96890	.	.	ENSG00000178035	ENST00000537036;ENST00000326739;ENST00000442157	T;T	0.79454	-1.27;-1.2	5.82	5.82	0.92795	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88444	0.3044	9	.	.	.	-22.4282	20.1054	0.97890	0.0:0.0:1.0:0.0	.	69	P12268	IMDH2_HUMAN	S	69	ENSP00000321584:P69S;ENSP00000403502:P69S	.	P	-	1	0	IMPDH2	49040912	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	9.712000	0.98738	2.757000	0.94681	0.655000	0.94253	CCC		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
QRICH1	54870	broad.mit.edu	37	3	49081895	49081895	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49081895G>T	ENST00000395443.2	-	6	2186	c.1714C>A	c.(1714-1716)Ctt>Att	p.L572I	QRICH1_ENST00000357496.2_Missense_Mutation_p.L572I|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.L572I	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	572						nucleus (GO:0005634)		p.L572I(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAATAAAGATCGGAGAAA	0.408																																					p.L572I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1714A	3						.						119.0	121.0	120.0					3																	49081895		2203	4300	6503	49056899	SO:0001583	missense	54870	exon6				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1714C>A	3.37:g.49081895G>T	ENSP00000378830:p.Leu572Ile		49056899	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287387	0.59976	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.8	5.8	0.92144	.	0.167279	0.53938	D	0.000048	T	0.39733	0.1089	L	0.27053	0.805	0.38670	D	0.952286	P	0.49783	0.928	B	0.39465	0.3	T	0.39663	-0.9603	9	0.37606	T	0.19	-2.5398	14.8412	0.70226	0.0:0.0:0.8562:0.1438	.	572	Q2TAL8	QRIC1_HUMAN	I	572	.	ENSP00000350094:L572I	L	-	1	0	QRICH1	49056899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.203000	0.77864	2.745000	0.94114	0.491000	0.48974	CTT		0.408	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
QRICH1	54870	broad.mit.edu	37	3	49084551	49084551	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49084551C>A	ENST00000395443.2	-	4	1939	c.1467G>T	c.(1465-1467)aaG>aaT	p.K489N	QRICH1_ENST00000357496.2_Missense_Mutation_p.K489N|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.K489N	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	489						nucleus (GO:0005634)		p.K489N(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTTCAGCATTCTTGGTCTGGG	0.473																																					p.K489N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1467T	3						.						164.0	156.0	159.0					3																	49084551		2203	4300	6503	49059555	SO:0001583	missense	54870	exon4				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1467G>T	3.37:g.49084551C>A	ENSP00000378830:p.Lys489Asn		49059555	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093019	0.76756	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.76889	-0.2792	9	0.66056	D	0.02	-5.3718	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	489	Q2TAL8	QRIC1_HUMAN	N	489	.	ENSP00000350094:K489N	K	-	3	2	QRICH1	49059555	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.684000	0.46951	2.894000	0.99253	0.591000	0.81541	AAG		0.473	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
LAMB2	3913	broad.mit.edu	37	3	49163560	49163560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49163560C>A	ENST00000418109.1	-	18	2348	c.2184G>T	c.(2182-2184)gaG>gaT	p.E728D	LAMB2_ENST00000305544.4_Missense_Mutation_p.E728D|LAMB2_ENST00000464891.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	728	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E728D(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACTAAACATCTCTAGCACCA	0.592																																					p.E728D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2184T	3						.						80.0	76.0	78.0					3																	49163560		2203	4300	6503	49138564	SO:0001583	missense	3913	exon17				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2184G>T	3.37:g.49163560C>A	ENSP00000388325:p.Glu728Asp		49138564	NM_002292	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805613	0.31961	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.35421	1.31;1.31	5.76	5.76	0.90799	Laminin IV (1);	0.053982	0.64402	D	0.000001	T	0.26955	0.0660	N	0.17082	0.46	0.58432	D	0.999997	D	0.56521	0.976	P	0.49387	0.609	T	0.02868	-1.1100	10	0.11182	T	0.66	.	10.6811	0.45815	0.0:0.7973:0.1321:0.0706	.	728	P55268	LAMB2_HUMAN	D	728	ENSP00000388325:E728D;ENSP00000307156:E728D	ENSP00000307156:E728D	E	-	3	2	LAMB2	49138564	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.674000	0.37544	2.732000	0.93576	0.655000	0.94253	GAG		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
LAMB2	3913	broad.mit.edu	37	3	49169830	49169830	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49169830C>A	ENST00000418109.1	-	4	422	c.258G>T	c.(256-258)aaG>aaT	p.K86N	LAMB2_ENST00000305544.4_Missense_Mutation_p.K86N	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	86	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K86N(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGAAGCACTTCTTTTCGTCCT	0.597																																					p.K86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	3						.						112.0	121.0	118.0					3																	49169830		2203	4300	6503	49144834	SO:0001583	missense	3913	exon3				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.258G>T	3.37:g.49169830C>A	ENSP00000388325:p.Lys86Asn		49144834	NM_002292	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369034	0.61624	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.78924	-1.22;-1.22	4.41	3.45	0.39498	Laminin, N-terminal (3);	0.118890	0.56097	D	0.000039	D	0.85177	0.5637	M	0.87827	2.91	0.58432	D	0.999995	D	0.56287	0.975	P	0.59357	0.856	D	0.85438	0.1153	10	0.52906	T	0.07	.	7.7132	0.28690	0.0:0.8257:0.0:0.1743	.	86	P55268	LAMB2_HUMAN	N	86	ENSP00000388325:K86N;ENSP00000307156:K86N	ENSP00000307156:K86N	K	-	3	2	LAMB2	49144834	0.997000	0.39634	1.000000	0.80357	0.845000	0.48019	0.545000	0.23268	2.303000	0.77524	0.655000	0.94253	AAG		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
CCDC36	339834	broad.mit.edu	37	3	49292916	49292916	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49292916G>T	ENST00000438782.1	+	7	862	c.626G>T	c.(625-627)aGa>aTa	p.R209I	CCDC36_ENST00000296449.5_Missense_Mutation_p.R209I|CCDC36_ENST00000452691.2_Missense_Mutation_p.R209I			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	209								p.R199I(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		ATGAAGAAAAGATTTGAAGCT	0.398																																					p.R209I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626T	3						.						121.0	118.0	119.0					3																	49292916		2203	4300	6503	49267920	SO:0001583	missense	339834	exon9			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.626G>T	3.37:g.49292916G>T	ENSP00000391788:p.Arg209Ile		49267920	NM_178173	C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700628	0.48307	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.15256	2.44;2.44;2.44	5.31	-10.6	0.00265	.	1.450240	0.04208	N	0.331241	T	0.08980	0.0222	L	0.29908	0.895	0.09310	N	1	B	0.28636	0.218	B	0.28139	0.086	T	0.14839	-1.0458	10	0.44086	T	0.13	0.0072	2.7502	0.05279	0.4136:0.3185:0.1126:0.1554	.	209	Q8IYA8	CCD36_HUMAN	I	209;209;209;189	ENSP00000296449:R209I;ENSP00000391788:R209I;ENSP00000407837:R209I	ENSP00000296449:R209I	R	+	2	0	CCDC36	49267920	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	-2.672000	0.00843	-2.542000	0.00485	0.591000	0.81541	AGA		0.398	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173	
C3orf62	375341	broad.mit.edu	37	3	49314045	49314045	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49314045C>T	ENST00000343010.3	-	1	1297	c.261G>A	c.(259-261)gaG>gaA	p.E87E	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	87								p.E87E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTTCTCATTCTCAGGAGCAC	0.532																																					p.E87E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G261A	3						.						110.0	106.0	108.0					3																	49314045		2203	4300	6503	49289049	SO:0001819	synonymous_variant	375341	exon1			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.261G>A	3.37:g.49314045C>T			49289049	NM_198562	Q6P7E9|Q7Z3X6	Silent	SNP	ENST00000343010.3	37	CCDS2792.1																																																																																				0.532	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562	
TCTA	6988	broad.mit.edu	37	3	49452269	49452269	+	Missense_Mutation	SNP	G	G	A	rs142840341		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49452269G>A	ENST00000273590.3	+	3	507	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000454011.2_5'Flank|TCTA_ENST00000493381.1_3'UTR|AMT_ENST00000476226.1_5'Flank|RHOA_ENST00000265538.3_5'Flank|RHOA_ENST00000422781.1_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	96						integral component of membrane (GO:0016021)		p.E96K(1)		large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGCAAACGAACCTCTCAA	0.517																																					p.E96K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	3						.	G	LYS/GLU	0,4406		0,0,2203	107.0	93.0	98.0		286	4.1	1.0	3	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TCTA	NM_022171.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	96/104	49452269	1,13005	2203	4300	6503	49427273	SO:0001583	missense	6988	exon3				CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.286G>A	3.37:g.49452269G>A	ENSP00000273590:p.Glu96Lys		49427273	NM_022171	B2R4I4|Q6I9U4|Q9BSB0	Missense_Mutation	SNP	ENST00000273590.3	37	CCDS2796.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272521	0.59649	0.0	1.16E-4	ENSG00000145022	ENST00000273590	.	.	.	4.11	4.11	0.48088	.	0.064498	0.64402	D	0.000016	T	0.56202	0.1969	N	0.24115	0.695	0.40021	D	0.975405	D	0.59767	0.986	D	0.68192	0.956	T	0.61647	-0.7020	9	0.72032	D	0.01	-5.3533	12.0191	0.53333	0.0:0.0:1.0:0.0	.	96	P57738	TCTA_HUMAN	K	96	.	ENSP00000273590:E96K	E	+	1	0	TCTA	49427273	0.999000	0.42202	0.996000	0.52242	0.989000	0.77384	4.359000	0.59449	2.289000	0.77006	0.462000	0.41574	GAA		0.517	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171	
DAG1	1605	broad.mit.edu	37	3	49569444	49569444	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49569444G>T	ENST00000539901.1	+	3	2058	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DAG1_ENST00000545947.1_Missense_Mutation_p.K500N|DAG1_ENST00000308775.2_Missense_Mutation_p.K500N|DAG1_ENST00000515359.2_Missense_Mutation_p.K500N|DAG1_ENST00000541308.1_Missense_Mutation_p.K500N|DAG1_ENST00000538711.1_Missense_Mutation_p.K500N	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	500					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.K500N(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGAGCTCAAGAACCATATTG	0.557																																					p.K500N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1500T	3						.						71.0	64.0	66.0					3																	49569444		2203	4300	6503	49544448	SO:0001583	missense	1605	exon3			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1500G>T	3.37:g.49569444G>T	ENSP00000439334:p.Lys500Asn		49544448	NM_004393	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648357	0.47258	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	D;D;D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92;-4.92;-4.92	5.76	3.64	0.41730	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.047323	0.85682	D	0.000000	D	0.95236	0.8455	L	0.36672	1.1	0.46654	D	0.999142	P	0.48998	0.918	B	0.43701	0.428	D	0.92853	0.6299	9	.	.	.	-30.1102	7.2147	0.25953	0.3229:0.0:0.6771:0.0	.	500	Q14118	DAG1_HUMAN	N	500	ENSP00000440705:K500N;ENSP00000312435:K500N;ENSP00000442600:K500N;ENSP00000440590:K500N;ENSP00000439334:K500N;ENSP00000438421:K500N	.	K	+	3	2	DAG1	49544448	0.426000	0.25506	1.000000	0.80357	0.998000	0.95712	-0.251000	0.08818	1.437000	0.47472	0.655000	0.94253	AAG		0.557	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
BSN	8927	broad.mit.edu	37	3	49690867	49690867	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49690867C>A	ENST00000296452.4	+	5	3992	c.3878C>A	c.(3877-3879)gCt>gAt	p.A1293D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1293					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A1293D(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTTCTAAATGCTGAGAGTGCA	0.547																																					p.A1293D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3878A	3						.						58.0	60.0	59.0					3																	49690867		2203	4300	6503	49665871	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3878C>A	3.37:g.49690867C>A	ENSP00000296452:p.Ala1293Asp		49665871	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811612	0.50527	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.06	5.06	0.68205	.	0.128733	0.50627	D	0.000113	T	0.39145	0.1067	L	0.58428	1.81	0.53688	D	0.999977	D	0.63880	0.993	P	0.56343	0.796	T	0.20907	-1.0261	10	0.62326	D	0.03	.	18.4297	0.90620	0.0:1.0:0.0:0.0	.	1293	Q9UPA5	BSN_HUMAN	D	1293	ENSP00000296452:A1293D	ENSP00000296452:A1293D	A	+	2	0	BSN	49665871	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	7.804000	0.85993	2.363000	0.80096	0.462000	0.41574	GCT		0.547	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
RNF123	63891	broad.mit.edu	37	3	49737750	49737750	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:49737750C>T	ENST00000327697.6	+	13	1219	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	RNF123_ENST00000432042.1_Missense_Mutation_p.H213Y	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	359					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H359Y(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GTCCGTGGTGCACCAGGTCCT	0.607																																					p.H359Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	3						.						108.0	82.0	91.0					3																	49737750		2203	4300	6503	49712754	SO:0001583	missense	63891	exon13			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1075C>T	3.37:g.49737750C>T	ENSP00000328287:p.His359Tyr		49712754	NM_022064	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376144	0.24857	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.75704	-0.66;-0.96	5.58	3.66	0.41972	.	0.672603	0.15707	N	0.248602	T	0.53077	0.1774	N	0.08118	0	0.80722	D	1	B;B	0.20368	0.031;0.044	B;B	0.19148	0.024;0.016	T	0.44937	-0.9295	10	0.22109	T	0.4	-6.71	11.3642	0.49662	0.1421:0.721:0.1369:0.0	.	213;359	C9J266;Q5XPI4	.;RN123_HUMAN	Y	359;359;213	ENSP00000328287:H359Y;ENSP00000392443:H213Y	ENSP00000328287:H359Y	H	+	1	0	RNF123	49712754	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.684000	0.54671	1.338000	0.45544	0.655000	0.94253	CAC		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064	
RBM6	10180	broad.mit.edu	37	3	50095855	50095855	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50095855T>C	ENST00000266022.4	+	10	2249	c.1990T>C	c.(1990-1992)Tat>Cat	p.Y664H	RBM6_ENST00000422955.1_Missense_Mutation_p.Y142H|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Missense_Mutation_p.Y142H|RBM6_ENST00000539992.1_Missense_Mutation_p.Y6H|RBM6_ENST00000443081.1_Missense_Mutation_p.Y532H	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	664					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y664H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAAGCGTATCTATCGTTCCAC	0.458																																					p.Y664H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1990C	3						.						208.0	213.0	211.0					3																	50095855		2203	4300	6503	50070859	SO:0001583	missense	10180	exon10			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1990T>C	3.37:g.50095855T>C	ENSP00000266022:p.Tyr664His		50070859	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.526360	0.64860	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000446471	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);	0.462380	0.21978	N	0.066348	T	0.08626	0.0214	N	0.08118	0	0.25291	N	0.989357	D;D	0.67145	0.991;0.996	P;D	0.64877	0.852;0.93	T	0.38908	-0.9639	9	.	.	.	-13.644	2.8825	0.05652	0.1516:0.0768:0.1398:0.6319	.	532;664	E9PGM9;P78332	.;RBM6_HUMAN	H	142;664;532;6;142;142	ENSP00000393530:Y142H;ENSP00000266022:Y664H;ENSP00000396466:Y532H;ENSP00000443165:Y6H;ENSP00000392939:Y142H	.	Y	+	1	0	RBM6	50070859	0.946000	0.32159	1.000000	0.80357	0.986000	0.74619	1.960000	0.40422	2.189000	0.69895	0.529000	0.55759	TAT		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
RBM6	10180	broad.mit.edu	37	3	50103853	50103853	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50103853A>C	ENST00000266022.4	+	17	3120	c.2861A>C	c.(2860-2862)aAa>aCa	p.K954T	RBM6_ENST00000422955.1_Missense_Mutation_p.K432T|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000442092.1_Missense_Mutation_p.K432T|RBM6_ENST00000539992.1_Missense_Mutation_p.K296T|RBM6_ENST00000443081.1_Missense_Mutation_p.K822T	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	954					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K954T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GACTGGAATAAACTGGCTTGT	0.512																																					p.K954T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2861C	3						.						146.0	159.0	154.0					3																	50103853		2203	4300	6503	50078857	SO:0001583	missense	10180	exon17			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2861A>C	3.37:g.50103853A>C	ENSP00000266022:p.Lys954Thr		50078857	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.895084	0.91962	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.57595	0.39;0.9;0.91;0.45;0.39	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.77278	-0.2647	9	.	.	.	-23.2864	16.5582	0.84512	1.0:0.0:0.0:0.0	.	954	P78332	RBM6_HUMAN	T	432;954;822;296;432	ENSP00000393530:K432T;ENSP00000266022:K954T;ENSP00000396466:K822T;ENSP00000443165:K296T;ENSP00000392939:K432T	.	K	+	2	0	RBM6	50078857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	AAA		0.512	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
RBM6	10180	broad.mit.edu	37	3	50112659	50112659	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50112659G>T	ENST00000266022.4	+	20	3401	c.3142G>T	c.(3142-3144)Gat>Tat	p.D1048Y	RBM6_ENST00000422955.1_Missense_Mutation_p.D526Y|RBM6_ENST00000421682.1_Missense_Mutation_p.D44Y|RBM6_ENST00000442092.1_Missense_Mutation_p.D526Y|RBM6_ENST00000539992.1_Missense_Mutation_p.D390Y|RBM6_ENST00000443081.1_Missense_Mutation_p.D916Y	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1048					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D1048Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGATAAAGAAGATATCGACAC	0.458																																					p.D1048Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3142T	3						.						81.0	81.0	81.0					3																	50112659		2203	4300	6503	50087663	SO:0001583	missense	10180	exon20			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3142G>T	3.37:g.50112659G>T	ENSP00000266022:p.Asp1048Tyr		50087663	NM_005777	O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670421	0.47677	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	T;T;T;T;T	0.44083	0.93;1.51;1.52;0.93;0.93	5.52	5.52	0.82312	.	0.703401	0.14360	N	0.324480	T	0.26666	0.0652	N	0.08118	0	0.34033	D	0.654086	P	0.36789	0.57	B	0.40101	0.319	T	0.30909	-0.9962	9	.	.	.	-3.1217	11.6806	0.51455	0.0818:0.0:0.9182:0.0	.	1048	P78332	RBM6_HUMAN	Y	526;1048;916;390;526;44	ENSP00000393530:D526Y;ENSP00000266022:D1048Y;ENSP00000396466:D916Y;ENSP00000443165:D390Y;ENSP00000392939:D526Y	.	D	+	1	0	RBM6	50087663	1.000000	0.71417	0.955000	0.39395	0.594000	0.36715	2.046000	0.41260	2.601000	0.87937	0.650000	0.86243	GAT		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777	
RBM5	10181	broad.mit.edu	37	3	50155773	50155773	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50155773C>T	ENST00000347869.3	+	25	2507	c.2332C>T	c.(2332-2334)Cgg>Tgg	p.R778W	RP11-493K19.3_ENST00000437204.1_RNA|RP11-493K19.3_ENST00000425674.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	778	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.|Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R778W(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCAAGTTCGGCTAAAGGG	0.582																																					p.R778W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2332T	3						.						77.0	66.0	70.0					3																	50155773		2203	4300	6503	50130777	SO:0001583	missense	10181	exon25			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2332C>T	3.37:g.50155773C>T	ENSP00000343054:p.Arg778Trp		50130777	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887247	0.72410	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.34667	1.35	5.57	4.69	0.59074	D111/G-patch (3);	0.115139	0.56097	D	0.000027	T	0.69620	0.3131	H	0.96015	3.755	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.77958	-0.2392	10	0.46703	T	0.11	-13.8745	13.118	0.59311	0.4136:0.5864:0.0:0.0	.	778	P52756	RBM5_HUMAN	W	778;777;468	ENSP00000343054:R778W	ENSP00000343054:R778W	R	+	1	2	RBM5	50130777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.221000	0.42917	1.319000	0.45190	0.655000	0.94253	CGG		0.582	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	
SLC38A3	10991	broad.mit.edu	37	3	50252837	50252837	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50252837G>A	ENST00000420502.1	+	0	472									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GACAGCTGTCGCCTTGCTCTC	0.612																																					p.A107T												.	.	0			c.G319A	3						.						92.0	94.0	93.0					3																	50252837		2007	4170	6177	50227841			10991	exon5			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252837G>A			50227841	NM_006841		Missense_Mutation	SNP	ENST00000420502.1	37																																																																																					0.612	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841	
DOCK3	1795	broad.mit.edu	37	3	51112857	51112857	+	Missense_Mutation	SNP	G	G	T	rs369702617		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51112857G>T	ENST00000266037.9	+	7	558	c.535G>T	c.(535-537)Gat>Tat	p.D179Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	179					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D179Y(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TAGTGTCTCAGATCTCTATAA	0.398																																					p.R165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494T	3						.						77.0	76.0	76.0					3																	51112857		1881	4111	5992	51087897	SO:0001583	missense	1795	exon7			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.535G>T	3.37:g.51112857G>T	ENSP00000266037:p.Asp179Tyr		51087897	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606334	0.87157	.	.	ENSG00000088538	ENST00000266037	T	0.49432	0.78	5.77	5.77	0.91146	.	0.186906	0.56097	D	0.000025	T	0.64011	0.2560	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	T	0.64024	-0.6504	10	0.87932	D	0	.	18.1283	0.89593	0.0:0.0:1.0:0.0	.	179	Q8IZD9	DOCK3_HUMAN	Y	179	ENSP00000266037:D179Y	ENSP00000266037:D179Y	D	+	1	0	DOCK3	51087897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.309000	0.89969	2.890000	0.99128	0.585000	0.79938	GAT		0.398	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51196713	51196713	+	Silent	SNP	C	C	T	rs200460488		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51196713C>T	ENST00000266037.9	+	11	890	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	289					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I289I(2)|p.I278I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATTTGTATATCGTTGCCCATG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.001		0.0	False		,,,				2504	0.0				p.R276C												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.C826T	3						.						132.0	124.0	126.0					3																	51196713		1865	4113	5978	51171753	SO:0001819	synonymous_variant	1795	exon11			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.867C>T	3.37:g.51196713C>T			51171753	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.358	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51198110	51198110	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51198110G>T	ENST00000266037.9	+	12	1037	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	338					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K338N(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGAAGAAAAGGATTTTGTTC	0.443																																					p.G325X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973T	3						.						80.0	82.0	81.0					3																	51198110		1967	4138	6105	51173150	SO:0001583	missense	1795	exon12			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1014G>T	3.37:g.51198110G>T	ENSP00000266037:p.Lys338Asn		51173150	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832959	0.71258	.	.	ENSG00000088538	ENST00000266037	T	0.05786	3.39	5.8	2.04	0.26737	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	M	0.64997	1.995	0.50171	D	0.999851	D	0.56035	0.974	P	0.53062	0.717	T	0.20538	-1.0272	10	0.19147	T	0.46	.	10.6215	0.45483	0.2562:0.0:0.7438:0.0	.	338	Q8IZD9	DOCK3_HUMAN	N	338	ENSP00000266037:K338N	ENSP00000266037:K338N	K	+	3	2	DOCK3	51173150	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.662000	0.25038	0.825000	0.34637	0.563000	0.77884	AAG		0.443	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51264863	51264863	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51264863C>A	ENST00000266037.9	+	16	1550	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	509	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F509L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTTTGAGTTCAGACATTGTT	0.458																																					p.Q496K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1486A	3						.						84.0	80.0	81.0					3																	51264863		1840	4077	5917	51239903	SO:0001583	missense	1795	exon16			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1527C>A	3.37:g.51264863C>A	ENSP00000266037:p.Phe509Leu		51239903	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654191	0.88056	.	.	ENSG00000088538	ENST00000266037	T	0.16073	2.37	6.05	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.63169	1.94	0.80722	D	1	P	0.44659	0.84	P	0.50754	0.649	T	0.01972	-1.1237	10	0.44086	T	0.13	.	15.5202	0.75859	0.0:0.9339:0.0:0.0661	.	509	Q8IZD9	DOCK3_HUMAN	L	509	ENSP00000266037:F509L	ENSP00000266037:F509L	F	+	3	2	DOCK3	51239903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.089000	0.71384	1.574000	0.49760	-0.157000	0.13467	TTC		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51312528	51312528	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51312528T>G	ENST00000266037.9	+	25	2590	c.2567T>G	c.(2566-2568)cTt>cGt	p.L856R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	856					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L856R(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CGCATCCTGCTTCCTGTGGTT	0.493																																					p.A842A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2526G	3						.						197.0	197.0	197.0					3																	51312528		1922	4130	6052	51287568	SO:0001583	missense	1795	exon25			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2567T>G	3.37:g.51312528T>G	ENSP00000266037:p.Leu856Arg		51287568	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667248	0.88348	.	.	ENSG00000088538	ENST00000266037	T	0.70986	-0.53	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86867	0.2033	10	0.72032	D	0.01	.	16.2007	0.82071	0.0:0.0:0.0:1.0	.	856	Q8IZD9	DOCK3_HUMAN	R	856	ENSP00000266037:L856R	ENSP00000266037:L856R	L	+	2	0	DOCK3	51287568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.219000	0.72066	0.528000	0.53228	CTT		0.493	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
RBM15B	29890	broad.mit.edu	37	3	51431305	51431305	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51431305C>A	ENST00000323686.4	+	1	2575	c.2475C>A	c.(2473-2475)gtC>gtA	p.V825V		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	825	Interaction with Epstein-Barr virus BMLF1.|SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V825V(1)		endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAACCTGGTCTCCTACTTGA	0.637																																					p.V825V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2475A	3						.						27.0	31.0	30.0					3																	51431305		2203	4300	6503	51406345	SO:0001819	synonymous_variant	29890	exon1			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2475C>A	3.37:g.51431305C>A			51406345	NM_013286	A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	CCDS33764.1																																																																																				0.637	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286	
VPRBP	9730	broad.mit.edu	37	3	51477917	51477917	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51477917C>A	ENST00000335891.5	-	5	387	c.378G>T	c.(376-378)gaG>gaT	p.E126D				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	126					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.E126D(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CGACAATTCCCTCCTATAGTA	0.358																																					p.E125D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G375T	3						.						59.0	57.0	57.0					3																	51477917		1819	4075	5894	51452957	SO:0001583	missense	9730	exon6			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.378G>T	3.37:g.51477917C>A	ENSP00000338857:p.Glu126Asp		51452957	NM_001171904	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	C	12.00	1.805785	0.31961	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.67698	-0.28;0.79	5.84	3.31	0.37934	Armadillo-type fold (1);	0.100664	0.64402	D	0.000002	T	0.62588	0.2440	N	0.16166	0.38	0.25933	N	0.982968	D	0.56035	0.974	D	0.70487	0.969	T	0.55140	-0.8187	10	0.14656	T	0.56	-18.7485	10.2545	0.43388	0.0:0.1354:0.0:0.8646	.	126	Q9Y4B6	VPRBP_HUMAN	D	126	ENSP00000338857:E126D;ENSP00000421724:E126D	ENSP00000338857:E126D	E	-	3	2	VPRBP	51452957	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	1.838000	0.39211	0.461000	0.27071	-0.455000	0.05494	GAG		0.358	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
VPRBP	9730	broad.mit.edu	37	3	51505016	51505016	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51505016G>T	ENST00000335891.5	-	2	125	c.116C>A	c.(115-117)tCt>tAt	p.S39Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	39					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.S39Y(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AATCAATTGAGACATCCTAGC	0.403																																					p.S39Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116A	3						.						95.0	86.0	89.0					3																	51505016		1861	4106	5967	51480056	SO:0001583	missense	9730	exon3			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.116C>A	3.37:g.51505016G>T	ENSP00000338857:p.Ser39Tyr		51480056	NM_001171904	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099518	0.76983	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.61392	0.11;0.47	4.93	4.93	0.64822	.	0.078300	0.64402	D	0.000011	T	0.73713	0.3622	L	0.61218	1.895	0.33184	D	0.549983	D	0.58970	0.984	D	0.74348	0.983	T	0.81771	-0.0780	10	0.87932	D	0	-2.0949	16.9662	0.86286	0.0:0.0:1.0:0.0	.	39	Q9Y4B6	VPRBP_HUMAN	Y	39	ENSP00000338857:S39Y;ENSP00000421724:S39Y	ENSP00000338857:S39Y	S	-	2	0	VPRBP	51480056	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.688000	0.91260	2.281000	0.76405	0.449000	0.29647	TCT		0.403	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703	
IQCF2	389123	broad.mit.edu	37	3	51895692	51895692	+	Nonsense_Mutation	SNP	C	C	T	rs201262177		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51895692C>T	ENST00000333127.3	+	1	39	c.10C>T	c.(10-12)Cga>Tga	p.R4*	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	4								p.R4*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATGAGGGTTCGATTTTGTGT	0.473																																					p.R4X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C10T	3						.						123.0	108.0	113.0					3																	51895692		2203	4300	6503	51870732	SO:0001587	stop_gained	389123	exon1			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.10C>T	3.37:g.51895692C>T	ENSP00000329904:p.Arg4*		51870732	NM_203424		Nonsense_Mutation	SNP	ENST00000333127.3	37	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	c	19.10	3.762236	0.69763	.	.	ENSG00000184345	ENST00000333127	.	.	.	4.37	-2.8	0.05823	.	2.199260	0.02172	N	0.059762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1518	9.7073	0.40222	0.6516:0.2202:0.1282:0.0	.	.	.	.	X	4	.	ENSP00000329904:R4X	R	+	1	2	IQCF2	51870732	0.000000	0.05858	0.000000	0.03702	0.453000	0.32348	-0.391000	0.07323	-0.538000	0.06281	0.555000	0.69702	CGA		0.473	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424	
IQCF1	132141	broad.mit.edu	37	3	51928912	51928912	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51928912C>A	ENST00000310914.5	-	4	674	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	204								p.K204N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACTTCATTCCTTTATTGAGA	0.493																																					p.K204N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G612T	3						.						60.0	61.0	61.0					3																	51928912		2203	4300	6503	51903952	SO:0001583	missense	132141	exon4			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.612G>T	3.37:g.51928912C>A	ENSP00000307958:p.Lys204Asn		51903952	NM_152397	Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356144	0.24598	.	.	ENSG00000173389	ENST00000310914	T	0.50813	0.73	4.06	-1.08	0.09936	.	0.105105	0.42420	N	0.000712	T	0.36853	0.0982	M	0.73217	2.22	0.29175	N	0.876894	P	0.37781	0.608	B	0.33568	0.166	T	0.34004	-0.9846	10	0.87932	D	0	-11.1333	3.7593	0.08598	0.1639:0.4542:0.0:0.3818	.	204	Q8N6M8	IQCF1_HUMAN	N	204	ENSP00000307958:K204N	ENSP00000307958:K204N	K	-	3	2	IQCF1	51903952	0.721000	0.28007	0.548000	0.28192	0.047000	0.14425	-0.159000	0.10056	-0.227000	0.09884	-0.404000	0.06349	AAG		0.493	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
IQCF1	132141	broad.mit.edu	37	3	51928987	51928987	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51928987C>T	ENST00000310914.5	-	4	599	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	179								p.Q179Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAGATGCAGCTGGTTGGCTG	0.527																																					p.Q179Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G537A	3						.						94.0	93.0	94.0					3																	51928987		2203	4300	6503	51904027	SO:0001819	synonymous_variant	132141	exon4			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.537G>A	3.37:g.51928987C>T			51904027	NM_152397	Q8N711	Silent	SNP	ENST00000310914.5	37	CCDS2836.1																																																																																				0.527	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397	
RRP9	9136	broad.mit.edu	37	3	51972152	51972152	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:51972152A>G	ENST00000232888.6	-	3	312	c.239T>C	c.(238-240)cTg>cCg	p.L80P		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	80	Glu-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.L80P(1)|p.L80Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGCCAAGCGCAGCTTCTTTTC	0.637																																					p.L80P												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.T239C	3						.						90.0	68.0	75.0					3																	51972152		2202	4300	6502	51947192	SO:0001583	missense	9136	exon3			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.239T>C	3.37:g.51972152A>G	ENSP00000232888:p.Leu80Pro		51947192	NM_004704	B2R996|Q8IZ30	Missense_Mutation	SNP	ENST00000232888.6	37	CCDS2837.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455194	0.84209	.	.	ENSG00000114767	ENST00000232888	T	0.59364	0.27	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.79598	-0.1737	10	0.87932	D	0	-13.079	14.3203	0.66482	1.0:0.0:0.0:0.0	.	80	O43818	U3IP2_HUMAN	P	80	ENSP00000232888:L80P	ENSP00000232888:L80P	L	-	2	0	RRP9	51947192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.752000	0.91632	2.025000	0.59659	0.460000	0.39030	CTG		0.637	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1	NM_004704	
DUSP7	1849	broad.mit.edu	37	3	52088014	52088014	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52088014G>T	ENST00000495880.1	-	2	1077	c.894C>A	c.(892-894)atC>atA	p.I298I	DUSP7_ENST00000296483.6_Silent_p.I247I			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	298					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.I247I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTGGTCAGAGATGGGGATCT	0.567																																					p.I298I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894A	3						.						206.0	190.0	195.0					3																	52088014		2203	4300	6503	52063054	SO:0001819	synonymous_variant	1849	exon2			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.894C>A	3.37:g.52088014G>T			52063054	NM_001947	Q2M3J7|Q8NFJ0	Silent	SNP	ENST00000495880.1	37	CCDS33766.2																																																																																				0.567	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947	
TLR9	54106	broad.mit.edu	37	3	52255658	52255658	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52255658G>A	ENST00000360658.2	-	2	3307	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	TLR9_ENST00000494383.1_Missense_Mutation_p.S1045L|TLR9_ENST00000597542.1_Missense_Mutation_p.R916W	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	892	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.R892W(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AGCTGCCCCCGAAGCTCGTTG	0.637																																					p.R892W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2674T	3						.						77.0	80.0	79.0					3																	52255658		2203	4299	6502	52230698	SO:0001583	missense	54106	exon2			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2674C>T	3.37:g.52255658G>A	ENSP00000353874:p.Arg892Trp		52230698	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.144918|2.144918	0.37825|0.37825	.|.	.|.	ENSG00000239732|ENSG00000173366	ENST00000360658|ENST00000494383	T|.	0.08102|.	3.13|.	5.22|5.22	2.01|2.01	0.26516|0.26516	Toll/interleukin-1 receptor homology (TIR) domain (3);|.	0.000000|.	0.34652|.	N|.	0.003790|.	T|T	0.51873|0.51873	0.1700|0.1700	M|M	0.72118|0.72118	2.19|2.19	0.25111|0.25111	N|N	0.990713|0.990713	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.987;1.0|.	T|T	0.43081|0.43081	-0.9413|-0.9413	10|5	0.66056|.	D|.	0.02|.	.|.	7.3461|7.3461	0.26664|0.26664	0.0843:0.0:0.4787:0.4371|0.0843:0.0:0.4787:0.4371	.|.	989;892|.	B4E0A1;Q9NR96|.	.;TLR9_HUMAN|.	W|L	892|1045	ENSP00000353874:R892W|.	ENSP00000353874:R892W|.	R|S	-|-	1|2	2|0	TLR9|RP11-330H6.5	52230698|52230698	0.023000|0.023000	0.18921|0.18921	0.724000|0.724000	0.30704|0.30704	0.326000|0.326000	0.28443|0.28443	0.173000|0.173000	0.16724|0.16724	0.565000|0.565000	0.29255|0.29255	-0.122000|-0.122000	0.15005|0.15005	CGG|TCG		0.637	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
TLR9	54106	broad.mit.edu	37	3	52256386	52256386	+	Missense_Mutation	SNP	C	C	T	rs202082899		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52256386C>T	ENST00000360658.2	-	2	2579	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	TLR9_ENST00000494383.1_Silent_p.A802A|TLR9_ENST00000597542.1_Missense_Mutation_p.R673H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	649					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.R649H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GGGGAGGTTGCGCAGGGTTTG	0.582																																					p.R649H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1946A	3						.						67.0	66.0	67.0					3																	52256386		2203	4300	6503	52231426	SO:0001583	missense	54106	exon2			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1946G>A	3.37:g.52256386C>T	ENSP00000353874:p.Arg649His		52231426	NM_017442	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	3.072	-0.190866	0.06299	.	.	ENSG00000239732	ENST00000360658	T	0.79940	-1.32	5.16	-8.81	0.00813	.	0.862721	0.09623	N	0.777332	T	0.59142	0.2172	N	0.17764	0.52	0.09310	N	1	B;B	0.21905	0.005;0.062	B;B	0.06405	0.0;0.002	T	0.43540	-0.9385	10	0.42905	T	0.14	.	7.9907	0.30239	0.0:0.4383:0.2279:0.3338	.	746;649	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	649	ENSP00000353874:R649H	ENSP00000353874:R649H	R	-	2	0	TLR9	52231426	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-2.966000	0.00670	-1.475000	0.01876	-2.069000	0.00389	CGC		0.582	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
DNAH1	25981	broad.mit.edu	37	3	52390733	52390733	+	Missense_Mutation	SNP	G	G	A	rs368357694		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52390733G>A	ENST00000420323.2	+	22	4058	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1266	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1266H(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGAGCAAGCGCTACCAGACC	0.582																																					p.R1266H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3797A	3						.	G	HIS/ARG	1,4067		0,1,2033	50.0	53.0	52.0		3797	5.4	1.0	3		52	0,8396		0,0,4198	no	missense	DNAH1	NM_015512.4	29	0,1,6231	AA,AG,GG		0.0,0.0246,0.0080	probably-damaging	1266/4266	52390733	1,12463	2034	4198	6232	52365773	SO:0001583	missense	25981	exon22			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3797G>A	3.37:g.52390733G>A	ENSP00000401514:p.Arg1266His		52365773	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671054	0.88348	2.46E-4	0.0	ENSG00000114841	ENST00000420323	T	0.63580	-0.05	5.41	5.41	0.78517	.	0.000000	0.52532	D	0.000070	D	0.83631	0.5296	M	0.89534	3.04	0.47374	D	0.999406	D	0.89917	1.0	D	0.83275	0.996	D	0.86152	0.1588	10	0.56958	D	0.05	.	19.185	0.93639	0.0:0.0:1.0:0.0	.	1266	C9JXH6	.	H	1266	ENSP00000401514:R1266H	ENSP00000401514:R1266H	R	+	2	0	DNAH1	52365773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.612000	0.46343	2.541000	0.85698	0.555000	0.69702	CGC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52403946	52403946	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52403946C>T	ENST00000420323.2	+	38	6310	c.6049C>T	c.(6049-6051)Ccc>Tcc	p.P2017S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2017	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P2017S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGCTCATGCCCTTCATCGA	0.592																																					p.P2017S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6049T	3						.						90.0	95.0	93.0					3																	52403946		2054	4212	6266	52378986	SO:0001583	missense	25981	exon38			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.6049C>T	3.37:g.52403946C>T	ENSP00000401514:p.Pro2017Ser		52378986	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430161	0.83776	.	.	ENSG00000114841	ENST00000420323	D	0.91237	-2.81	5.42	5.42	0.78866	.	0.000000	0.49916	D	0.000130	D	0.95912	0.8669	M	0.88512	2.96	0.80722	D	1	D	0.64830	0.994	D	0.65140	0.932	D	0.95998	0.8991	10	0.56958	D	0.05	.	19.2043	0.93723	0.0:1.0:0.0:0.0	.	2017	C9JXH6	.	S	2017	ENSP00000401514:P2017S	ENSP00000401514:P2017S	P	+	1	0	DNAH1	52378986	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	5.330000	0.65899	2.559000	0.86315	0.561000	0.74099	CCC		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52412647	52412647	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52412647G>A	ENST00000420323.2	+	47	7489	c.7228G>A	c.(7228-7230)Gag>Aag	p.E2410K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2410	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2410K(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCACTTCACGGAGCCCCTTGT	0.617																																					p.E2410K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7228A	3						.						103.0	114.0	110.0					3																	52412647		2023	4188	6211	52387687	SO:0001583	missense	25981	exon47			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7228G>A	3.37:g.52412647G>A	ENSP00000401514:p.Glu2410Lys		52387687	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784666	0.49997	.	.	ENSG00000114841	ENST00000420323	T	0.35421	1.31	5.11	1.04	0.20106	.	0.633514	0.13702	N	0.368735	T	0.19087	0.0458	N	0.16233	0.39	0.35011	D	0.756872	B	0.06786	0.001	B	0.10450	0.005	T	0.29243	-1.0018	10	0.07482	T	0.82	.	10.823	0.46617	0.3019:0.0:0.6981:0.0	.	2410	C9JXH6	.	K	2410	ENSP00000401514:E2410K	ENSP00000401514:E2410K	E	+	1	0	DNAH1	52387687	0.902000	0.30710	0.004000	0.12327	0.888000	0.51559	1.197000	0.32211	0.326000	0.23384	0.563000	0.77884	GAG		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
DNAH1	25981	broad.mit.edu	37	3	52417475	52417475	+	Missense_Mutation	SNP	C	C	T	rs373082854		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52417475C>T	ENST00000420323.2	+	51	8276	c.8015C>T	c.(8014-8016)gCg>gTg	p.A2672V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A2672V(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTATACTGCGGACGAGCAG	0.557																																					p.A2672V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8015T	3						.	C	VAL/ALA	1,4039		0,1,2019	81.0	81.0	81.0		8015	-4.9	0.0	3		81	0,8358		0,0,4179	no	missense	DNAH1	NM_015512.4	64	0,1,6198	TT,TC,CC		0.0,0.0248,0.0081	benign	2672/4266	52417475	1,12397	2020	4179	6199	52392515	SO:0001583	missense	25981	exon51			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8015C>T	3.37:g.52417475C>T	ENSP00000401514:p.Ala2672Val		52392515	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008122	0.07773	2.48E-4	0.0	ENSG00000114841	ENST00000420323	T	0.43294	0.95	4.87	-4.9	0.03094	.	3.650830	0.00976	N	0.003318	T	0.30885	0.0779	L	0.31476	0.935	0.09310	N	1	B	0.16603	0.018	B	0.14023	0.01	T	0.17077	-1.0381	10	0.27082	T	0.32	.	10.1514	0.42796	0.0:0.4331:0.087:0.4798	.	2672	C9JXH6	.	V	2672	ENSP00000401514:A2672V	ENSP00000401514:A2672V	A	+	2	0	DNAH1	52392515	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.148000	0.10219	-2.003000	0.00962	-2.053000	0.00404	GCG		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
NISCH	11188	broad.mit.edu	37	3	52526285	52526285	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52526285C>T	ENST00000479054.1	+	22	4374	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F	NISCH_ENST00000345716.4_Silent_p.F1434F			Q9Y2I1	NISCH_HUMAN	nischarin	1434					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.F1434F(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCTCGTCTTCGATGACGTGC	0.657																																					p.F1434F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4302T	3						.						138.0	136.0	136.0					3																	52526285		2203	4300	6503	52501325	SO:0001819	synonymous_variant	11188	exon21			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4302C>T	3.37:g.52526285C>T			52501325	NM_007184	C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	CCDS33767.1																																																																																				0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184	
PBRM1	55193	broad.mit.edu	37	3	52702601	52702601	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52702601C>T	ENST00000296302.7	-	3	298	c.297G>A	c.(295-297)caG>caA	p.Q99Q	PBRM1_ENST00000409767.1_Silent_p.Q99Q|PBRM1_ENST00000410007.1_Silent_p.Q99Q|PBRM1_ENST00000394830.3_Silent_p.Q99Q|PBRM1_ENST00000356770.4_Silent_p.Q99Q|PBRM1_ENST00000337303.4_Silent_p.Q99Q|PBRM1_ENST00000409114.3_Silent_p.Q99Q|PBRM1_ENST00000409057.1_Silent_p.Q99Q			Q86U86	PB1_HUMAN	polybromo 1	99	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q99Q(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTTAGTTTCTGTTGGATTT	0.303			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.Q99Q			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G297A	3						.						79.0	72.0	75.0					3																	52702601		2203	4298	6501	52677641	SO:0001819	synonymous_variant	55193	exon4			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.297G>A	3.37:g.52702601C>T			52677641	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.303	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
NEK4	6787	broad.mit.edu	37	3	52799932	52799932	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52799932A>G	ENST00000233027.5	-	4	839	c.637T>C	c.(637-639)Tct>Cct	p.S213P	NEK4_ENST00000383721.4_Missense_Mutation_p.S213P|NEK4_ENST00000535191.1_Missense_Mutation_p.S124P	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S213P(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TAAACTAAAGAATTCATATCT	0.328																																					p.S124P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T370C	3						.						80.0	82.0	81.0					3																	52799932		2203	4299	6502	52774972	SO:0001583	missense	6787	exon3			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.637T>C	3.37:g.52799932A>G	ENSP00000233027:p.Ser213Pro		52774972	NM_001193533	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816683	0.90790	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	L	0.53617	1.68	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	T	0.80241	-0.1464	10	0.62326	D	0.03	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	124;213;213	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	P	213;124;213;124	ENSP00000233027:S213P;ENSP00000437703:S124P;ENSP00000373227:S213P;ENSP00000419666:S124P	ENSP00000233027:S213P	S	-	1	0	NEK4	52774972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.244000	0.73946	0.533000	0.62120	TCT		0.328	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ITIH1	3697	broad.mit.edu	37	3	52816193	52816193	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52816193C>A	ENST00000273283.2	+	8	864	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ITIH1_ENST00000542827.1_Missense_Mutation_p.F280L|ITIH1_ENST00000540715.1_Missense_Mutation_p.F138L|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	280					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F280L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTGCCCACTTCTTTGCCCCCC	0.522																																					p.F138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C414A	3						.						103.0	99.0	100.0					3																	52816193		2203	4300	6503	52791233	SO:0001583	missense	3697	exon6				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.840C>A	3.37:g.52816193C>A	ENSP00000273283:p.Phe280Leu		52791233	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396167	0.83011	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.02737	4.18;4.68;4.55	5.69	4.81	0.61882	.	0.045751	0.85682	N	0.000000	T	0.16041	0.0386	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00179	-1.1950	10	0.87932	D	0	-28.4894	8.0936	0.30816	0.0:0.7611:0.0:0.2389	.	280	P19827	ITIH1_HUMAN	L	280;280;138	ENSP00000442584:F280L;ENSP00000273283:F280L;ENSP00000443973:F138L	ENSP00000273283:F280L	F	+	3	2	ITIH1	52791233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.965000	0.29319	1.388000	0.46506	0.655000	0.94253	TTC		0.522	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
ITIH1	3697	broad.mit.edu	37	3	52823792	52823792	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52823792C>A	ENST00000273283.2	+	19	2267	c.2243C>A	c.(2242-2244)cCt>cAt	p.P748H	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.P606H|ITIH1_ENST00000405128.3_Missense_Mutation_p.P114H|ITIH1_ENST00000537050.1_Missense_Mutation_p.P460H	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	748	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P748H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAAGTGACTCCTCAGAACATT	0.612																																					p.P606H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1817A	3						.						102.0	95.0	97.0					3																	52823792		2203	4300	6503	52798832	SO:0001583	missense	3697	exon17				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2243C>A	3.37:g.52823792C>A	ENSP00000273283:p.Pro748His		52798832	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711888	0.68730	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.63	5.63	0.86233	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.058706	0.64402	D	0.000002	T	0.41328	0.1154	M	0.80746	2.51	0.43321	D	0.995347	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79784	0.96;0.989;0.993;0.992	T	0.30179	-0.9987	10	0.87932	D	0	-12.4208	16.6082	0.84836	0.0:1.0:0.0:0.0	.	606;114;349;748	F5H165;B5MCP1;Q9P1C5;P19827	.;.;.;ITIH1_HUMAN	H	748;606;460;301;114	ENSP00000273283:P748H;ENSP00000443973:P606H;ENSP00000443847:P460H;ENSP00000395836:P301H;ENSP00000384589:P114H	ENSP00000273283:P748H	P	+	2	0	ITIH1	52798832	0.998000	0.40836	0.998000	0.56505	0.349000	0.29174	3.203000	0.51075	2.644000	0.89710	0.563000	0.77884	CCT		0.612	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
SFMBT1	51460	broad.mit.edu	37	3	52945142	52945142	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52945142G>A	ENST00000394752.3	-	17	2165	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	SFMBT1_ENST00000296295.6_Missense_Mutation_p.R595W|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R595W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R595W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	595					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.R595W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCAGTCACCCGATCTGCTGTT	0.438																																					p.R595W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1783T	3						.						156.0	145.0	149.0					3																	52945142		2203	4300	6503	52920182	SO:0001583	missense	51460	exon18			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1783C>T	3.37:g.52945142G>A	ENSP00000378235:p.Arg595Trp		52920182	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366111	0.82463	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.87	5.87	0.94306	.	0.064498	0.64402	D	0.000005	T	0.34077	0.0885	L	0.36672	1.1	0.80722	D	1	B;P	0.41131	0.24;0.739	B;B	0.31686	0.068;0.134	T	0.10800	-1.0614	10	0.38643	T	0.18	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	595;595	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	W	595	ENSP00000378235:R595W;ENSP00000350789:R595W;ENSP00000296295:R595W;ENSP00000378233:R595W	ENSP00000296295:R595W	R	-	1	2	SFMBT1	52920182	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.476000	0.81055	2.785000	0.95823	0.655000	0.94253	CGG		0.438	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
SFMBT1	51460	broad.mit.edu	37	3	52947542	52947542	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52947542C>T	ENST00000394752.3	-	15	1954	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	SFMBT1_ENST00000296295.6_Silent_p.E524E|SFMBT1_ENST00000394750.1_Silent_p.E524E|SFMBT1_ENST00000358080.2_Silent_p.E524E	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	524					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.E524E(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATTGAGGCAGCTCAGCAATTC	0.418																																					p.E524E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1572A	3						.						122.0	117.0	118.0					3																	52947542		2203	4300	6503	52922582	SO:0001819	synonymous_variant	51460	exon16			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1572G>A	3.37:g.52947542C>T			52922582	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	CCDS2867.1																																																																																				0.418	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
SFMBT1	51460	broad.mit.edu	37	3	52977453	52977453	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52977453C>T	ENST00000394752.3	-	4	662	c.280G>A	c.(280-282)Gat>Aat	p.D94N	SFMBT1_ENST00000296295.6_Missense_Mutation_p.D94N|SFMBT1_ENST00000394750.1_Missense_Mutation_p.D94N|SFMBT1_ENST00000358080.2_Missense_Mutation_p.D94N	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	94					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.D94N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CACCAGAAATCTGCTCTCCGA	0.507																																					p.D94N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280A	3						.						118.0	98.0	105.0					3																	52977453		2203	4300	6503	52952493	SO:0001583	missense	51460	exon5			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.280G>A	3.37:g.52977453C>T	ENSP00000378235:p.Asp94Asn		52952493	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890363	0.97074	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.98;0.47	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83977	0.0330	10	0.72032	D	0.01	.	19.5023	0.95100	0.0:1.0:0.0:0.0	.	94;94	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	N	94	ENSP00000378235:D94N;ENSP00000350789:D94N;ENSP00000296295:D94N;ENSP00000378233:D94N;ENSP00000418860:D94N;ENSP00000418950:D94N	ENSP00000296295:D94N	D	-	1	0	SFMBT1	52952493	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.452000	0.80683	2.602000	0.87976	0.650000	0.86243	GAT		0.507	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
CACNA1D	776	broad.mit.edu	37	3	53531458	53531458	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:53531458G>A	ENST00000350061.5	+	2	858	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R116Q|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R116Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	116					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R116Q(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AACCCCATCCGAAGAGCCTGC	0.423																																					p.R116Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	3						.						90.0	102.0	98.0					3																	53531458		2203	4300	6503	53506498	SO:0001583	missense	776	exon2			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.347G>A	3.37:g.53531458G>A	ENSP00000288133:p.Arg116Gln		53506498	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633503	0.96682	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	T;T;T	0.76709	-1.04;-1.04;-1.04	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000117	D	0.90628	0.7061	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.91481	0.5204	10	0.87932	D	0	.	20.1166	0.97939	0.0:0.0:1.0:0.0	.	116;116;116	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	Q	116	ENSP00000288133:R116Q;ENSP00000288139:R116Q;ENSP00000409174:R116Q	ENSP00000288139:R116Q	R	+	2	0	CACNA1D	53506498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	CGA		0.423	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
ACTR8	93973	broad.mit.edu	37	3	53907082	53907082	+	Nonsense_Mutation	SNP	G	G	A	rs201848227		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:53907082G>A	ENST00000335754.3	-	9	1238	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.R85*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R269*|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	380					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R85*(1)|p.R380*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TCTCCTAATCGAAACTGGTAA	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20437	0.0		0.0	False		,,,				2504	0.0				p.R380X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1138T	3						.						77.0	72.0	74.0					3																	53907082		2203	4300	6503	53882122	SO:0001587	stop_gained	93973	exon9				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1138C>T	3.37:g.53907082G>A	ENSP00000336842:p.Arg380*		53882122	NM_022899	B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.503650	0.98325	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0213	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	380;269;85	.	ENSP00000231909:R85X	R	-	1	2	ACTR8	53882122	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.917000	0.69989	2.941000	0.99782	0.655000	0.94253	CGA		0.433	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	
ACTR8	93973	broad.mit.edu	37	3	53909985	53909985	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:53909985G>A	ENST00000335754.3	-	7	1001	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	ACTR8_ENST00000231909.7_Missense_Mutation_p.R51W|ACTR8_ENST00000482349.1_Missense_Mutation_p.R190W	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	301					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R51W(1)|p.R301W(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CGAGTATTCCGATGAGACACC	0.448																																					p.R301W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C901T	3						.						172.0	160.0	164.0					3																	53909985		2203	4300	6503	53885025	SO:0001583	missense	93973	exon7				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.901C>T	3.37:g.53909985G>A	ENSP00000336842:p.Arg301Trp		53885025	NM_022899	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433288	0.83776	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.97553	-3.5;-3.5;-4.43	5.87	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.97805	1.0247	10	0.66056	D	0.02	.	13.8846	0.63702	0.0:0.0:0.7222:0.2777	.	301;51	Q9H981;Q9H981-3	ARP8_HUMAN;.	W	301;190;51	ENSP00000336842:R301W;ENSP00000419429:R190W;ENSP00000231909:R51W	ENSP00000231909:R51W	R	-	1	2	ACTR8	53885025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.679000	0.61649	0.870000	0.35726	0.655000	0.94253	CGG		0.448	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	
CACNA2D3	55799	broad.mit.edu	37	3	54786629	54786629	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:54786629C>T	ENST00000474759.1	+	12	1219	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R297C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R391C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R391C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	391	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R391C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCTTCAGGTTCGCATCTTCAC	0.512																																					p.R391C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1171T	3						.						116.0	119.0	118.0					3																	54786629		2173	4263	6436	54761669	SO:0001583	missense	55799	exon12			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1171C>T	3.37:g.54786629C>T	ENSP00000419101:p.Arg391Cys		54761669	NM_018398	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182541	0.94885	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66048	-0.6020	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	391	Q8IZS8	CA2D3_HUMAN	C	391;391;391;297;297;296	ENSP00000389506:R391C;ENSP00000419101:R391C;ENSP00000288197:R391C;ENSP00000417279:R297C	ENSP00000288197:R391C	R	+	1	0	CACNA2D3	54761669	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.216000	0.77974	2.865000	0.98341	0.655000	0.94253	CGC		0.512	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
CACNA2D3	55799	broad.mit.edu	37	3	54872646	54872646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:54872646G>T	ENST00000474759.1	+	16	1570	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.E414*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.E508*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.E508*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	508	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E508*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CCCAGTGAAAGAACTTCTGAA	0.408																																					p.E508X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1522T	3						.						161.0	150.0	154.0					3																	54872646		1865	4123	5988	54847686	SO:0001587	stop_gained	55799	exon16			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1522G>T	3.37:g.54872646G>T	ENSP00000419101:p.Glu508*		54847686	NM_018398	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	38	7.244420	0.98161	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.8092	18.077	0.89430	0.0:0.0:1.0:0.0	.	.	.	.	X	508;508;508;414;414;407	.	ENSP00000288197:E508X	E	+	1	0	CACNA2D3	54847686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.680000	0.91225	2.717000	0.92951	0.655000	0.94253	GAA		0.408	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
CACNA2D3	55799	broad.mit.edu	37	3	54922006	54922006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:54922006G>T	ENST00000474759.1	+	24	2125	c.2077G>T	c.(2077-2079)Gaa>Taa	p.E693*	CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.E599*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.E693*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.E693*|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	693						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E693*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ATTGATCCAAGAAGTCCTTTT	0.527																																					p.E693X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2077T	3						.						142.0	139.0	140.0					3																	54922006		1958	4159	6117	54897046	SO:0001587	stop_gained	55799	exon24			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2077G>T	3.37:g.54922006G>T	ENSP00000419101:p.Glu693*		54897046	NM_018398	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	38	6.662052	0.97743	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-0.1782	17.8691	0.88806	0.0:0.0:1.0:0.0	.	.	.	.	X	693;693;693;599;599	.	ENSP00000288197:E693X	E	+	1	0	CACNA2D3	54897046	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.505000	0.81655	2.652000	0.90054	0.650000	0.86243	GAA		0.527	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
CACNA2D3	55799	broad.mit.edu	37	3	54933867	54933867	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:54933867G>A	ENST00000474759.1	+	27	2469	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L	CACNA2D3_ENST00000490478.1_Silent_p.L713L|CACNA2D3_ENST00000288197.5_Silent_p.L807L|CACNA2D3_ENST00000415676.2_Silent_p.L807L|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	807						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L807L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCCAGCTCCTGGATGAACGGA	0.428																																					p.L807L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2421A	3						.						76.0	75.0	76.0					3																	54933867		1942	4143	6085	54908907	SO:0001819	synonymous_variant	55799	exon27			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2421G>A	3.37:g.54933867G>A			54908907	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.428	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
LRTM1	57408	broad.mit.edu	37	3	54958646	54958646	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:54958646C>A	ENST00000273286.5	-	2	766	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Splice_Site_p.G126W|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	202	LRRCT.					integral component of membrane (GO:0016021)		p.G202W(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGACTGACCTTTATAGACA	0.448																																					p.G202W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G604T	3						.						74.0	78.0	76.0					3																	54958646		2203	4300	6503	54933686	SO:0001630	splice_region_variant	57408	exon2			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.604+1G>T	3.37:g.54958646C>A			54933686	NM_020678	Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460950	0.84317	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90133	4.19;-2.62	5.82	5.82	0.92795	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95721	0.8766	9	.	.	.	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	202	Q9HBL6	LRTM1_HUMAN	W	202;126	ENSP00000273286:G202W;ENSP00000419772:G126W	.	G	-	1	0	LRTM1	54933686	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.295000	0.78780	2.744000	0.94065	0.655000	0.94253	GGG		0.448	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678	Missense_Mutation
CACNA2D3	55799	broad.mit.edu	37	3	55052288	55052288	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:55052288C>A	ENST00000474759.1	+	35	2979	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V	CACNA2D3_ENST00000490478.1_Silent_p.V883V|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.V977V|CACNA2D3_ENST00000415676.2_Silent_p.V977V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	977						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V977V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAGCATTCGTCTCTGAGCGCA	0.483																																					p.V977V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2931A	3						.						88.0	85.0	86.0					3																	55052288		1935	4139	6074	55027328	SO:0001819	synonymous_variant	55799	exon35			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2931C>A	3.37:g.55052288C>A			55027328	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.483	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
ERC2	26059	broad.mit.edu	37	3	55768862	55768862	+	Silent	SNP	C	C	T	rs145037081	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:55768862C>T	ENST00000288221.6	-	15	2904	c.2649G>A	c.(2647-2649)acG>acA	p.T883T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	883						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.T883T(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTCTTCCTGCGTCTTTTTCT	0.458													C|||	8	0.00159744	0.0061	0.0	5008	,	,		17537	0.0		0.0	False		,,,				2504	0.0				p.T881T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2643A	3						.	C		8,3710		0,8,1851	95.0	87.0	89.0		2649	-10.9	0.7	3	dbSNP_134	89	0,8244		0,0,4122	no	coding-synonymous	ERC2	NM_015576.1		0,8,5973	TT,TC,CC		0.0,0.2152,0.0669		883/958	55768862	8,11954	1859	4122	5981	55743902	SO:0001819	synonymous_variant	26059	exon14			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2649G>A	3.37:g.55768862C>T			55743902	NM_015576	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	CCDS46851.1																																																																																				0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
ERC2	26059	broad.mit.edu	37	3	55922539	55922539	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:55922539C>A	ENST00000288221.6	-	14	2697	c.2442G>T	c.(2440-2442)caG>caT	p.Q814H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	814						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.Q814H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATCCAGTTCCTGTCTGGTCT	0.517																																					p.Q812H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2436T	3						.						232.0	238.0	236.0					3																	55922539		2096	4220	6316	55897579	SO:0001583	missense	26059	exon13			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2442G>T	3.37:g.55922539C>A	ENSP00000288221:p.Gln814His		55897579	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.551290|3.551290	0.65311|0.65311	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.45668|.	0.89|.	5.79|5.79	-0.0473|-0.0473	0.13844|0.13844	.|.	0.119890|.	0.64402|.	D|.	0.000020|.	T|T	0.62612|0.62612	0.2442|0.2442	M|M	0.71581|0.71581	2.175|2.175	0.38584|0.38584	D|D	0.950254|0.950254	D|.	0.62365|.	0.991|.	D|.	0.75484|.	0.986|.	T|T	0.62015|0.62015	-0.6943|-0.6943	10|5	0.72032|.	D|.	0.01|.	-22.705|-22.705	9.2921|9.2921	0.37793|0.37793	0.0:0.3817:0.0:0.6183|0.0:0.3817:0.0:0.6183	.|.	814|.	O15083|.	ERC2_HUMAN|.	H|M	814|461	ENSP00000288221:Q814H|.	ENSP00000288221:Q814H|.	Q|R	-|-	3|2	2|0	ERC2|ERC2	55897579|55897579	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.988000|0.988000	0.76386|0.76386	1.665000|1.665000	0.37449|0.37449	0.048000|0.048000	0.15891|0.15891	0.561000|0.561000	0.74099|0.74099	CAG|AGG		0.517	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
ERC2	26059	broad.mit.edu	37	3	56207482	56207482	+	Missense_Mutation	SNP	C	C	T	rs571267313		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:56207482C>T	ENST00000288221.6	-	4	1396	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	381						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.E381K(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACCTTCATTTCGATGACAGTC	0.468																																					p.E381K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1141A	3						.						86.0	90.0	89.0					3																	56207482		2109	4246	6355	56182522	SO:0001583	missense	26059	exon4			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1141G>A	3.37:g.56207482C>T	ENSP00000288221:p.Glu381Lys		56182522	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177087	0.94846	.	.	ENSG00000187672	ENST00000288221	T	0.49139	0.79	5.43	5.43	0.79202	.	0.141817	0.64402	D	0.000007	T	0.44664	0.1304	M	0.65975	2.015	0.54753	D	0.999985	P	0.45126	0.851	B	0.28465	0.09	T	0.58244	-0.7670	10	0.72032	D	0.01	-23.7569	19.6011	0.95561	0.0:1.0:0.0:0.0	.	381	O15083	ERC2_HUMAN	K	381	ENSP00000288221:E381K	ENSP00000288221:E381K	E	-	1	0	ERC2	56182522	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.345000	0.79337	2.703000	0.92315	0.557000	0.71058	GAA		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
CCDC66	285331	broad.mit.edu	37	3	56651450	56651450	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:56651450G>T	ENST00000394672.3	+	14	2224	c.2154G>T	c.(2152-2154)aaG>aaT	p.K718N	CCDC66_ENST00000326595.7_Missense_Mutation_p.K684N|CCDC66_ENST00000436465.2_Missense_Mutation_p.K718N	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	718					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.K601N(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CATCAGAAAAGTACCCTAAAC	0.358																																					p.K718N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2154T	3						.						49.0	51.0	50.0					3																	56651450		2203	4299	6502	56626490	SO:0001583	missense	285331	exon14			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2154G>T	3.37:g.56651450G>T	ENSP00000378167:p.Lys718Asn		56626490	NM_001141947	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481597	0.63849	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.34072	1.39;1.38;1.38	5.68	2.8	0.32819	.	0.120472	0.49305	D	0.000153	T	0.48589	0.1508	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.49409	-0.8943	10	0.72032	D	0.01	-17.298	7.286	0.26340	0.2332:0.1292:0.6376:0.0	.	718	A2RUB6	CCD66_HUMAN	N	718;684;718	ENSP00000378167:K718N;ENSP00000326050:K684N;ENSP00000404320:K718N	ENSP00000326050:K684N	K	+	3	2	CCDC66	56626490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.555000	0.23422	1.409000	0.46915	0.563000	0.77884	AAG		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
FAM208A	23272	broad.mit.edu	37	3	56681150	56681150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:56681150G>A	ENST00000493960.2	-	14	1625	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.R539*|FAM208A_ENST00000431842.2_Nonsense_Mutation_p.R143*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	539							poly(A) RNA binding (GO:0044822)	p.R143*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AATTCCTTTCGACACTGAATC	0.348																																					p.R539X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1615T	3						.						43.0	47.0	45.0					3																	56681150		2197	4296	6493	56656190	SO:0001587	stop_gained	23272	exon14			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1615C>T	3.37:g.56681150G>A	ENSP00000417509:p.Arg539*		56656190	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.642696	0.98406	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.38	3.49	0.39957	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4267	14.0096	0.64488	0.0:0.0:0.7156:0.2844	.	.	.	.	X	143;539;539	.	ENSP00000347845:R539X	R	-	1	2	C3orf63	56656190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.955000	0.49121	0.741000	0.32674	0.655000	0.94253	CGA		0.348	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
IL17RD	54756	broad.mit.edu	37	3	57132039	57132039	+	Silent	SNP	G	G	A	rs200249733		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57132039G>A	ENST00000296318.7	-	12	1780	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	IL17RD_ENST00000463523.1_Silent_p.F420F|IL17RD_ENST00000320057.5_Silent_p.F420F|IL17RD_ENST00000427856.2_Silent_p.F540F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	564					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F420F(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)		GGAAGGGAACGAACTGCTTTT	0.527																																					p.F564F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1692T	3						.						79.0	75.0	76.0					3																	57132039		2203	4300	6503	57107079	SO:0001819	synonymous_variant	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.1692C>T	3.37:g.57132039G>A			57107079	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	ENST00000296318.7	37	CCDS2880.2																																																																																				0.527	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
IL17RD	54756	broad.mit.edu	37	3	57137148	57137148	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57137148C>A	ENST00000296318.7	-	9	927	c.839G>T	c.(838-840)aGa>aTa	p.R280I	IL17RD_ENST00000463523.1_Missense_Mutation_p.R136I|IL17RD_ENST00000320057.5_Missense_Mutation_p.R136I|IL17RD_ENST00000427856.2_Missense_Mutation_p.R256I	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	280					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R136I(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)		CATCACTTTTCTTGTTGTGTT	0.353																																					p.R280I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G839T	3						.						133.0	118.0	123.0					3																	57137148		2203	4299	6502	57112188	SO:0001583	missense	54756	exon9			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.839G>T	3.37:g.57137148C>A	ENSP00000296318:p.Arg280Ile		57112188	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137342	0.77775	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.14391	2.51;2.54;2.53;2.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.29908	0.895	0.80722	D	1	D;P;P	0.53619	0.961;0.933;0.859	P;B;B	0.47744	0.556;0.312;0.428	T	0.00431	-1.1743	10	0.72032	D	0.01	-16.757	19.3887	0.94570	0.0:1.0:0.0:0.0	.	136;280;256	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	I	280;136;256;136	ENSP00000296318:R280I;ENSP00000322250:R136I;ENSP00000399209:R256I;ENSP00000417516:R136I	ENSP00000296318:R280I	R	-	2	0	IL17RD	57112188	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.342000	0.65970	2.826000	0.97356	0.655000	0.94253	AGA		0.353	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
HESX1	8820	broad.mit.edu	37	3	57232312	57232312	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57232312T>G	ENST00000295934.3	-	4	507	c.471A>C	c.(469-471)caA>caC	p.Q157H	HESX1_ENST00000473921.1_Missense_Mutation_p.Q123H	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	157					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.Q157H(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		CACGCCGATTTTGAAACCAAA	0.284																																					p.Q157H	Esophageal Squamous(84;267 1272 9034 48993 52677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A471C	3						.						53.0	52.0	52.0					3																	57232312		2202	4299	6501	57207352	SO:0001583	missense	8820	exon4			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.471A>C	3.37:g.57232312T>G	ENSP00000295934:p.Gln157His		57207352	NM_003865	Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040891	0.55003	.	.	ENSG00000163666	ENST00000295934;ENST00000473921	D;D	0.97688	-4.49;-3.46	5.25	2.86	0.33363	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	H	0.99659	4.685	0.49051	D	0.999744	D	0.89917	1.0	D	0.91635	0.999	D	0.97631	1.0142	10	0.87932	D	0	-17.868	7.5918	0.28025	0.0:0.2661:0.0:0.7339	.	157	Q9UBX0	HESX1_HUMAN	H	157;123	ENSP00000295934:Q157H;ENSP00000418918:Q123H	ENSP00000295934:Q157H	Q	-	3	2	HESX1	57207352	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.455000	0.35190	0.956000	0.37904	0.397000	0.26171	CAA		0.284	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2		
HESX1	8820	broad.mit.edu	37	3	57232884	57232884	+	Missense_Mutation	SNP	G	G	A	rs149663188		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57232884G>A	ENST00000295934.3	-	2	290	c.254C>T	c.(253-255)tCg>tTg	p.S85L	HESX1_ENST00000473921.1_Missense_Mutation_p.S85L	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	85					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.S85L(1)		large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCATATTTCGAAGCTCTTTC	0.418																																					p.S85L	Esophageal Squamous(84;267 1272 9034 48993 52677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254T	3						.	A	LEU/SER	0,4406		0,0,2203	209.0	234.0	226.0		254	-3.7	0.0	3	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	missense	HESX1	NM_003865.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	85/186	57232884	1,13005	2203	4300	6503	57207924	SO:0001583	missense	8820	exon2			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.254C>T	3.37:g.57232884G>A	ENSP00000295934:p.Ser85Leu		57207924	NM_003865	Q52LC5|Q99667	Missense_Mutation	SNP	ENST00000295934.3	37	CCDS2881.1	.	.	.	.	.	.	.	.	.	.	g	5.828	0.336984	0.11013	0.0	1.16E-4	ENSG00000163666	ENST00000295934;ENST00000473921;ENST00000495160	D;D;T	0.93547	-3.24;-3.02;-1.44	5.74	-3.71	0.04424	.	1.034790	0.07635	N	0.929317	T	0.74680	0.3748	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65965	-0.6040	10	0.22706	T	0.39	2.5002	7.8608	0.29509	0.5948:0.1043:0.3008:0.0	.	85	Q9UBX0	HESX1_HUMAN	L	85	ENSP00000295934:S85L;ENSP00000418918:S85L;ENSP00000419615:S85L	ENSP00000295934:S85L	S	-	2	0	HESX1	57207924	0.007000	0.16637	0.000000	0.03702	0.723000	0.41478	0.662000	0.25038	-0.964000	0.03595	-1.309000	0.01313	TCG		0.418	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351430.2		
APPL1	26060	broad.mit.edu	37	3	57302510	57302510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57302510G>T	ENST00000288266.3	+	21	2125	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	660					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.E660*(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaaacagattgaaaAGGTATA	0.338																																					p.E660X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1978T	3						.						99.0	95.0	97.0					3																	57302510		2201	4300	6501	57277550	SO:0001587	stop_gained	26060	exon21			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1978G>T	3.37:g.57302510G>T	ENSP00000288266:p.Glu660*		57277550	NM_012096	Q9P2B9	Nonsense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	36	5.936004	0.97122	.	.	ENSG00000157500	ENST00000288266	.	.	.	3.86	3.86	0.44501	.	0.316340	0.31648	N	0.007282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.5986	0.62004	0.0:0.0:1.0:0.0	.	.	.	.	X	660	.	ENSP00000288266:E660X	E	+	1	0	APPL1	57277550	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	4.233000	0.58651	2.428000	0.82296	0.557000	0.71058	GAA		0.338	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
APPL1	26060	broad.mit.edu	37	3	57303587	57303587	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57303587C>T	ENST00000288266.3	+	22	2149	c.2002C>T	c.(2002-2004)Cgg>Tgg	p.R668W	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	668					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R668W(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGAACAAAGTCGGTTGATAGC	0.423																																					p.R668W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2002T	3						.						109.0	104.0	106.0					3																	57303587		2203	4300	6503	57278627	SO:0001583	missense	26060	exon22			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.2002C>T	3.37:g.57303587C>T	ENSP00000288266:p.Arg668Trp		57278627	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862194	0.71949	.	.	ENSG00000157500	ENST00000288266	T	0.11495	2.77	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02009	-1.1230	10	0.87932	D	0	.	16.1283	0.81408	0.1347:0.8653:0.0:0.0	.	668	Q9UKG1	DP13A_HUMAN	W	668	ENSP00000288266:R668W	ENSP00000288266:R668W	R	+	1	2	APPL1	57278627	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.679000	0.68160	1.468000	0.48064	0.563000	0.77884	CGG		0.423	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
DNAH12	201625	broad.mit.edu	37	3	57494253	57494253	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57494253G>T	ENST00000351747.2	-	7	737	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DNAH12_ENST00000311202.6_Missense_Mutation_p.S186Y|DNAH12_ENST00000389536.4_Missense_Mutation_p.S186Y	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	186	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S186Y(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCAAGGATTAGAATAATCTAG	0.318																																					p.S186Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C557A	3						.						42.0	43.0	43.0					3																	57494253		2203	4299	6502	57469293	SO:0001583	missense	201625	exon7			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.557C>A	3.37:g.57494253G>T	ENSP00000295937:p.Ser186Tyr		57469293	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37		.	.	.	.	.	.	.	.	.	.	G	15.75	2.925599	0.52759	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24908	2.0;1.83;3.41;2.87	5.1	5.1	0.69264	.	0.082707	0.47093	D	0.000248	T	0.48077	0.1480	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.63192	0.912;0.87	T	0.49916	-0.8888	10	0.72032	D	0.01	.	18.5128	0.90923	0.0:0.0:1.0:0.0	.	186;186	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	Y	186	ENSP00000295937:S186Y;ENSP00000418137:S186Y;ENSP00000374187:S186Y;ENSP00000312554:S186Y	ENSP00000312554:S186Y	S	-	2	0	DNAH12	57469293	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.963000	0.76055	2.370000	0.80446	0.585000	0.79938	TCT		0.318	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
ARF4	378	broad.mit.edu	37	3	57561286	57561286	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57561286G>A	ENST00000303436.6	-	5	712	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARF4_ENST00000496292.1_Missense_Mutation_p.R122C|ARF4_ENST00000489843.1_Missense_Mutation_p.R40C	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	149					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)	p.R149C(1)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GTTCTGTTACGAAGAGACTGA	0.353																																					p.R149C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445T	3						.						109.0	98.0	102.0					3																	57561286		2203	4300	6503	57536326	SO:0001583	missense	378	exon5			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.445C>T	3.37:g.57561286G>A	ENSP00000306010:p.Arg149Cys		57536326	NM_001660	B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	37	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142880	0.77888	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	D;D	0.83250	-1.7;-1.7	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.998	P;P	0.62435	0.902;0.87	D	0.92479	0.5991	10	0.59425	D	0.04	-1.2058	14.6249	0.68614	0.0696:0.0:0.9304:0.0	.	122;149	C9JAK5;P18085	.;ARF4_HUMAN	C	149;122	ENSP00000306010:R149C;ENSP00000417501:R122C	ENSP00000306010:R149C	R	-	1	0	ARF4	57536326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.677000	0.54619	1.436000	0.47453	0.591000	0.81541	CGT		0.353	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660	
DENND6A	201627	broad.mit.edu	37	3	57627404	57627404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57627404G>A	ENST00000311128.5	-	12	1178	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	370					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.R370*(1)									TCTCCTATTCGAATAATGTGT	0.358																																					p.R370X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1108T	3						.						141.0	135.0	137.0					3																	57627404		2203	4300	6503	57602444	SO:0001587	stop_gained	201627	exon12			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.1108C>T	3.37:g.57627404G>A	ENSP00000311401:p.Arg370*		57602444	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Nonsense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.368338|4.368338	0.82463|0.82463	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000477344	.|.	.|.	.|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67599	.|0.2910	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70088	.|-0.4968	.|3	0.02654|.	T|.	1|.	-14.2435|-14.2435	15.6037|15.6037	0.76646|0.76646	0.0:0.0:0.8619:0.1381|0.0:0.0:0.8619:0.1381	.|.	.|.	.|.	.|.	X|L	370|138	.|.	ENSP00000311401:R370X|.	R|S	-|-	1|2	2|0	FAM116A|FAM116A	57602444|57602444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.386000|7.386000	0.79775|0.79775	2.618000|2.618000	0.88619|0.88619	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
SLMAP	7871	broad.mit.edu	37	3	57898130	57898130	+	Silent	SNP	C	C	T	rs79652350		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:57898130C>T	ENST00000428312.1	+	18	1765	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000494088.1_Silent_p.I50I|SLMAP_ENST00000416870.1_Silent_p.I50I|SLMAP_ENST00000449503.2_Silent_p.I519I|SLMAP_ENST00000442599.2_Silent_p.I25I|SLMAP_ENST00000295952.3_Silent_p.I540I|SLMAP_ENST00000295951.3_Silent_p.I540I|SLMAP_ENST00000495364.1_Silent_p.I91I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	557					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.I540I(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GGTTACACATCGATACTGAGA	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20550	0.0		0.0	False		,,,				2504	0.0				p.I540I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1620T	3						.						82.0	84.0	83.0					3																	57898130		2203	4300	6503	57873170	SO:0001819	synonymous_variant	7871	exon17			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1671C>T	3.37:g.57898130C>T			57873170	NM_007159	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37		1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	7.778|7.778	0.708994|0.708994	0.15239|0.15239	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128	.|.	.|.	.|.	4.97|4.97	-4.05|-4.05	0.03998|0.03998	.|.	.|.	.|.	.|.	.|.	.|T	.|0.39384	.|0.1076	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999963|0.999963	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35226	.|-0.9797	.|4	.|.	.|.	.|.	1.0619|1.0619	3.0825|3.0825	0.06267|0.06267	0.1168:0.1417:0.4007:0.3408|0.1168:0.1417:0.4007:0.3408	.|.	.|.	.|.	.|.	X|L	165;95|141	.|.	.|.	R|S	+|+	1|2	2|0	SLMAP|SLMAP	57873170|57873170	0.091000|0.091000	0.21658|0.21658	0.808000|0.808000	0.32385|0.32385	0.872000|0.872000	0.50106|0.50106	-0.778000|-0.778000	0.04664|0.04664	-0.620000|-0.620000	0.05641|0.05641	-0.339000|-0.339000	0.08088|0.08088	CGA|TCG		0.398	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159	
FLNB	2317	broad.mit.edu	37	3	58067371	58067371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58067371G>T	ENST00000295956.4	+	4	820	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	FLNB_ENST00000429972.2_Nonsense_Mutation_p.E219*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.E50*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.E50*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.E219*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.E219*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E219*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.E219*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	219	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.E219*(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACTCCTGAAGAAATCATTCA	0.478																																					p.E219X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G655T	3						.						138.0	130.0	133.0					3																	58067371		2203	4300	6503	58042411	SO:0001587	stop_gained	2317	exon4			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.655G>T	3.37:g.58067371G>T	ENSP00000295956:p.Glu219*		58042411	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	41	8.760785	0.98943	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.86	5.86	0.93980	.	0.086938	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	219;219;219;219;219;219;50;50	.	ENSP00000295956:E219X	E	+	1	0	FLNB	58042411	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.759000	0.98931	2.937000	0.99478	0.650000	0.86243	GAA		0.478	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	broad.mit.edu	37	3	58094284	58094284	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58094284A>C	ENST00000295956.4	+	13	2206	c.2041A>C	c.(2041-2043)Aag>Cag	p.K681Q	FLNB_ENST00000429972.2_Missense_Mutation_p.K681Q|FLNB_ENST00000493452.1_Missense_Mutation_p.K512Q|FLNB_ENST00000419752.2_Missense_Mutation_p.K512Q|FLNB_ENST00000358537.3_Missense_Mutation_p.K681Q|FLNB_ENST00000357272.4_Missense_Mutation_p.K681Q|FLNB_ENST00000348383.5_Missense_Mutation_p.K681Q|FLNB_ENST00000490882.1_Missense_Mutation_p.K681Q	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	681					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.K681Q(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCTCCCTTAAAGATATTTGC	0.483																																					p.K681Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2041C	3						.						67.0	67.0	67.0					3																	58094284		2203	4300	6503	58069324	SO:0001583	missense	2317	exon13			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2041A>C	3.37:g.58094284A>C	ENSP00000295956:p.Lys681Gln		58069324	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422169	0.83559	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.087292	0.85682	D	0.000000	D	0.87597	0.6217	L	0.46947	1.48	0.58432	D	0.999999	D;B;D;B;D;D	0.64830	0.987;0.164;0.994;0.041;0.994;0.994	P;B;D;B;D;D	0.66979	0.772;0.196;0.948;0.138;0.948;0.948	D	0.86925	0.2069	10	0.40728	T	0.16	.	16.002	0.80301	1.0:0.0:0.0:0.0	.	681;681;512;512;681;681	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Q	681;681;681;681;681;681;512;512	ENSP00000295956:K681Q;ENSP00000420213:K681Q;ENSP00000351339:K681Q;ENSP00000415599:K681Q;ENSP00000232447:K681Q;ENSP00000349819:K681Q;ENSP00000418510:K512Q;ENSP00000414532:K512Q	ENSP00000295956:K681Q	K	+	1	0	FLNB	58069324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.241000	0.73720	0.533000	0.62120	AAG		0.483	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
DNASE1L3	1776	broad.mit.edu	37	3	58186823	58186823	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58186823G>A	ENST00000394549.2	-	5	763	c.447C>T	c.(445-447)ttC>ttT	p.F149F	DNASE1L3_ENST00000318316.3_Silent_p.F149F|DNASE1L3_ENST00000486455.1_Silent_p.F119F|DNASE1L3_ENST00000483681.1_Silent_p.F149F	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	149					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.F149F(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGATAATCACGAAGTCTTTGA	0.552																																					p.F149F	Esophageal Squamous(96;1069 1424 4841 43466 52325)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C447T	3						.						116.0	119.0	118.0					3																	58186823		2203	4300	6503	58161863	SO:0001819	synonymous_variant	1776	exon7			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.447C>T	3.37:g.58186823G>A			58161863	NM_004944	B2R8B1|B7Z707|O75803	Silent	SNP	ENST00000394549.2	37	CCDS2886.1																																																																																				0.552	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944	
RPP14	11102	broad.mit.edu	37	3	58303179	58303179	+	Missense_Mutation	SNP	C	C	A	rs570810632		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58303179C>A	ENST00000445193.3	+	6	742	c.331C>A	c.(331-333)Ctt>Att	p.L111I	RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000295959.5_Missense_Mutation_p.L111I|RPP14_ENST00000528153.1_5'Flank|RPP14_ENST00000466547.1_Missense_Mutation_p.L111I	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	111					tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)	p.L111I(2)		large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		TTCTCCATTTCTTCTTGCATT	0.383																																					p.L111I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C331A	3						.						206.0	188.0	194.0					3																	58303179		2203	4300	6503	58278219	SO:0001583	missense	11102	exon6			AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"""ribonuclease P 14kDa subunit"""			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.331C>A	3.37:g.58303179C>A	ENSP00000412894:p.Leu111Ile		58278219	NM_001098783	Q53X97	Missense_Mutation	SNP	ENST00000445193.3	37	CCDS2888.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853569	0.91355	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.91	5.91	0.95273	.	0.197721	0.43416	D	0.000566	T	0.79476	0.4452	M	0.72118	2.19	0.47819	D	0.999523	D	0.76494	0.999	D	0.87578	0.998	T	0.79640	-0.1719	9	0.62326	D	0.03	-0.8571	18.4816	0.90813	0.0:1.0:0.0:0.0	.	111	O95059	RPP14_HUMAN	I	111	.	ENSP00000295959:L111I	L	+	1	0	RPP14	58278219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.498000	0.60373	2.804000	0.96469	0.650000	0.86243	CTT		0.383	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353527.2	NM_007042	
PXK	54899	broad.mit.edu	37	3	58368363	58368363	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58368363C>A	ENST00000356151.2	+	4	433	c.324C>A	c.(322-324)atC>atA	p.I108I	PXK_ENST00000484288.1_Silent_p.I108I|PXK_ENST00000479241.1_Silent_p.I91I|PXK_ENST00000302779.5_Silent_p.I91I|PXK_ENST00000383715.4_Silent_p.I91I|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Silent_p.I75I|PXK_ENST00000383716.3_Silent_p.I75I	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.I108I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CAAATCATATCTTGTCTAATT	0.378																																					p.I108I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324A	3						.						127.0	115.0	119.0					3																	58368363		2203	4300	6503	58343403	SO:0001819	synonymous_variant	54899	exon4			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.324C>A	3.37:g.58368363C>A			58343403	NM_017771		Silent	SNP	ENST00000356151.2	37	CCDS2889.1																																																																																				0.378	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	
PXK	54899	broad.mit.edu	37	3	58381397	58381397	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58381397G>T	ENST00000356151.2	+	9	842	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	PXK_ENST00000484288.1_Missense_Mutation_p.D245Y|PXK_ENST00000479241.1_Missense_Mutation_p.D228Y|PXK_ENST00000302779.5_Missense_Mutation_p.D228Y|PXK_ENST00000383715.4_Missense_Mutation_p.D228Y|PXK_ENST00000536660.1_Missense_Mutation_p.D108Y|PXK_ENST00000463280.1_Missense_Mutation_p.D212Y|PXK_ENST00000383716.3_Missense_Mutation_p.D212Y	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase									p.D245Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAAACCAAAAGACCCATTTCT	0.438																																					p.D245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G733T	3						.						77.0	80.0	79.0					3																	58381397		2203	4300	6503	58356437	SO:0001583	missense	54899	exon9			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.733G>T	3.37:g.58381397G>T	ENSP00000348472:p.Asp245Tyr		58356437	NM_017771		Missense_Mutation	SNP	ENST00000356151.2	37	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612730	0.46631	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T;T;T;T;T;T;T;T	0.32988	2.2;2.19;2.2;1.46;1.45;1.46;1.43;2.2	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.248571	0.47455	D	0.000235	T	0.26195	0.0639	L	0.27053	0.805	0.58432	D	0.999999	B;B;B;B;B;B	0.16603	0.002;0.0;0.002;0.018;0.0;0.006	B;B;B;B;B;B	0.17722	0.002;0.001;0.003;0.019;0.001;0.003	T	0.03130	-1.1069	10	0.51188	T	0.08	-17.3108	17.6027	0.88029	0.0:0.0:1.0:0.0	.	212;212;212;245;228;245	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	Y	245;228;212;212;228;245;228;108;108	ENSP00000348472:D245Y;ENSP00000305045:D228Y;ENSP00000373222:D212Y;ENSP00000417903:D212Y;ENSP00000373221:D228Y;ENSP00000417915:D245Y;ENSP00000419049:D228Y;ENSP00000438356:D108Y	ENSP00000305045:D228Y	D	+	1	0	PXK	58356437	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.852000	0.92215	2.675000	0.91044	0.609000	0.83330	GAC		0.438	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	
PDHB	5162	broad.mit.edu	37	3	58413899	58413899	+	Silent	SNP	C	C	T	rs148770511		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58413899C>T	ENST00000302746.6	-	10	984	c.942G>A	c.(940-942)gcG>gcA	p.A314A	PDHB_ENST00000474765.1_Missense_Mutation_p.V337I|RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Silent_p.A296A	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	314					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.A314A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	GGAAATTGAACGCAGGACCTA	0.507																																					p.A314A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	3						.						60.0	56.0	57.0					3																	58413899		2203	4300	6503	58388939	SO:0001819	synonymous_variant	5162	exon10				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.942G>A	3.37:g.58413899C>T			58388939	NM_000925	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Silent	SNP	ENST00000302746.6	37	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230081	0.39399	.	.	ENSG00000168291	ENST00000474765	D	0.96365	-3.99	6.16	-11.5	0.00074	.	.	.	.	.	D	0.88160	0.6362	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.74417	-0.3672	8	0.44086	T	0.13	-16.7915	0.8393	0.01146	0.2284:0.2793:0.2485:0.2438	.	337	C9J634	.	I	337	ENSP00000418448:V337I	ENSP00000418448:V337I	V	-	1	0	PDHB	58388939	0.109000	0.22037	0.704000	0.30370	0.975000	0.68041	-0.697000	0.05098	-1.742000	0.01342	-1.223000	0.01593	GTT		0.507	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1		
KCTD6	200845	broad.mit.edu	37	3	58487211	58487211	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58487211C>A	ENST00000355076.6	+	2	1549	c.566C>A	c.(565-567)tCt>tAt	p.S189Y	KCTD6_ENST00000404589.3_Missense_Mutation_p.S189Y|KCTD6_ENST00000490264.1_Missense_Mutation_p.S189Y	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	189					protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)	p.S189Y(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		CAGGAAGTTTCTCTTAGGGTC	0.448																																					p.S189Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C566A	3						.						84.0	81.0	82.0					3																	58487211		2203	4300	6503	58462251	SO:0001583	missense	200845	exon2			AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.566C>A	3.37:g.58487211C>A	ENSP00000347188:p.Ser189Tyr		58462251	NM_153331	B3KNI5|Q8NBS6|Q8TCA6	Missense_Mutation	SNP	ENST00000355076.6	37	CCDS2891.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267046	0.40095	.	.	ENSG00000168301	ENST00000404589;ENST00000490264;ENST00000355076	T;T;T	0.24151	1.87;1.87;1.87	5.45	5.45	0.79879	.	0.053686	0.85682	D	0.000000	T	0.15435	0.0372	N	0.08118	0	0.51482	D	0.999923	B	0.33379	0.41	B	0.25884	0.064	T	0.08617	-1.0713	10	0.52906	T	0.07	.	19.2666	0.93988	0.0:1.0:0.0:0.0	.	189	Q8NC69	KCTD6_HUMAN	Y	189	ENSP00000384948:S189Y;ENSP00000417490:S189Y;ENSP00000347188:S189Y	ENSP00000347188:S189Y	S	+	2	0	KCTD6	58462251	0.980000	0.34600	0.995000	0.50966	0.997000	0.91878	3.227000	0.51262	2.555000	0.86185	0.591000	0.81541	TCT		0.448	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331	
C3orf67	200844	broad.mit.edu	37	3	58817444	58817444	+	Missense_Mutation	SNP	C	C	T	rs557149953		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:58817444C>T	ENST00000482387.1	-	10	1864	c.1768G>A	c.(1768-1770)Gac>Aac	p.D590N	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.D464N|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	590								p.D464N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTGGTTGTGTCGTCACTGCTG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.001				p.D464N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	3						.						156.0	127.0	137.0					3																	58817444		2203	4300	6503	58792484	SO:0001583	missense	200844	exon13			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1768G>A	3.37:g.58817444C>T	ENSP00000417122:p.Asp590Asn		58792484	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.984950|4.984950	0.93044|0.93044	.|.	.|.	ENSG00000163689|ENSG00000163689	ENST00000295966;ENST00000482387|ENST00000486145	T;T|.	0.35236|.	1.45;1.32|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77039|0.77039	0.4072|0.4072	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.74054|0.74054	-0.3788|-0.3788	10|5	0.87932|.	D|.	0|.	-21.984|-21.984	20.3151|20.3151	0.98650|0.98650	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	464;590|.	Q6ZVT6-2;Q6ZVT6|.	.;CC067_HUMAN|.	N|Q	464;590|3	ENSP00000295966:D464N;ENSP00000417122:D590N|.	ENSP00000295966:D464N|.	D|R	-|-	1|2	0|0	C3orf67|C3orf67	58792484|58792484	0.995000|0.995000	0.38212|0.38212	0.976000|0.976000	0.42696|0.42696	0.984000|0.984000	0.73092|0.73092	5.763000|5.763000	0.68818|0.68818	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GAC|CGA		0.522	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
PTPRG	5793	broad.mit.edu	37	3	62254809	62254809	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62254809C>T	ENST00000474889.1	+	20	3351	c.2974C>T	c.(2974-2976)Cgt>Tgt	p.R992C	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R963C|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	992	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R992C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTACACTGTTCGTCGTTTTTC	0.393																																					p.R992C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2974T	3						.						103.0	95.0	98.0					3																	62254809		2203	4300	6503	62229849	SO:0001583	missense	5793	exon20			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2974C>T	3.37:g.62254809C>T	ENSP00000418112:p.Arg992Cys		62229849	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253295	0.80135	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.16073	2.37;2.37	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.050957	0.85682	D	0.000000	T	0.62171	0.2406	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76727	-0.2853	10	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	238;963;992	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	C	992;963	ENSP00000418112:R992C;ENSP00000295874:R963C	ENSP00000295874:R963C	R	+	1	0	PTPRG	62229849	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	4.742000	0.62103	2.765000	0.95021	0.650000	0.86243	CGT		0.393	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
PTPRG	5793	broad.mit.edu	37	3	62262710	62262710	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62262710C>A	ENST00000474889.1	+	25	4000	c.3623C>A	c.(3622-3624)gCt>gAt	p.A1208D	PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.A1179D|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1208	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1208D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACATTAATGCTTCTTATATC	0.378																																					p.A1208D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3623A	3						.						157.0	137.0	144.0					3																	62262710		2203	4300	6503	62237750	SO:0001583	missense	5793	exon25			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3623C>A	3.37:g.62262710C>A	ENSP00000418112:p.Ala1208Asp		62237750	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000854	0.93227	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.55413	0.52;0.52	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.098400	0.64402	D	0.000001	D	0.85575	0.5728	H	0.99261	4.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91030	0.4863	10	0.87932	D	0	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	454;1179;1208	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	D	1208;1179	ENSP00000418112:A1208D;ENSP00000295874:A1179D	ENSP00000295874:A1179D	A	+	2	0	PTPRG	62237750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.741000	0.84997	2.857000	0.98124	0.650000	0.86243	GCT		0.378	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
FEZF2	55079	broad.mit.edu	37	3	62355881	62355881	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62355881G>A	ENST00000283268.3	-	5	1551	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	FEZF2_ENST00000475839.1_Silent_p.C419C|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.C419C	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	419					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.C419C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CGCAAGTGGCGCACGTGAAAG	0.522																																					p.C419C	NSCLC(170;1772 2053 12525 15604 23984)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1257T	3						.						256.0	233.0	240.0					3																	62355881		2203	4300	6503	62330921	SO:0001819	synonymous_variant	55079	exon5			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1257C>T	3.37:g.62355881G>A			62330921	NM_018008	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																				0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008	
FEZF2	55079	broad.mit.edu	37	3	62357280	62357280	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62357280G>A	ENST00000283268.3	-	3	1209	c.915C>T	c.(913-915)ttC>ttT	p.F305F	FEZF2_ENST00000475839.1_Silent_p.F305F|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.F305F	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	305					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.F305F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CTTTGCACACGAACGGTCTGG	0.602																																					p.F305F	NSCLC(170;1772 2053 12525 15604 23984)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	3						.						71.0	70.0	70.0					3																	62357280		2203	4300	6503	62332320	SO:0001819	synonymous_variant	55079	exon3			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.915C>T	3.37:g.62357280G>A			62332320	NM_018008	A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	CCDS2897.1																																																																																				0.602	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008	
CADPS	8618	broad.mit.edu	37	3	62451123	62451123	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62451123G>A	ENST00000383710.4	-	26	3904	c.3555C>T	c.(3553-3555)ttC>ttT	p.F1185F	CADPS_ENST00000283269.9_Silent_p.F1146F|CADPS_ENST00000357948.3_Silent_p.F1106F|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1185	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.F1146F(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGATAGTAACGAACTAGAAAA	0.358																																					p.F1106F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3318T	3						.						93.0	100.0	98.0					3																	62451123		2203	4300	6503	62426163	SO:0001819	synonymous_variant	8618	exon23			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3555C>T	3.37:g.62451123G>A			62426163	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.281|7.281	0.609072|0.609072	0.14066|0.14066	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|.	.|.	.|.	5.98|5.98	-2.5|-2.5	0.06384|0.06384	.|.	.|.	.|.	.|.	.|.	T|T	0.65863|0.65863	0.2732|0.2732	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63808|0.63808	-0.6553|-0.6553	4|4	.|.	.|.	.|.	.|.	15.2763|15.2763	0.73745|0.73745	0.876:0.0:0.124:0.0|0.876:0.0:0.124:0.0	.|.	.|.	.|.	.|.	C|L	97|177	.|.	.|.	R|S	-|-	1|2	0|0	CADPS|CADPS	62426163|62426163	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.968000|0.968000	0.65278|0.65278	1.273000|1.273000	0.33121|0.33121	-0.712000|-0.712000	0.04988|0.04988	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.358	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62739145	62739145	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:62739145C>T	ENST00000383710.4	-	3	1208	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	CADPS_ENST00000283269.9_Missense_Mutation_p.E287K|CADPS_ENST00000357948.3_Missense_Mutation_p.E287K|CADPS_ENST00000490353.2_Missense_Mutation_p.E287K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	287					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E287K(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGCTGATGTTCGAACTTCTTG	0.517																																					p.E287K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G859A	3						.						78.0	75.0	76.0					3																	62739145		2203	4300	6503	62714185	SO:0001583	missense	8618	exon3			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.859G>A	3.37:g.62739145C>T	ENSP00000373215:p.Glu287Lys		62714185	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	35	5.480448	0.96307	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	M	0.81802	2.56	0.80722	D	1	D;D;P	0.71674	0.991;0.998;0.913	P;D;B	0.73380	0.871;0.98;0.11	D	0.92847	0.6294	10	0.66056	D	0.02	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	287;287;287	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	K	287	ENSP00000373215:E287K;ENSP00000350632:E287K;ENSP00000283269:E287K;ENSP00000418736:E287K	ENSP00000283269:E287K	E	-	1	0	CADPS	62714185	1.000000	0.71417	0.951000	0.38953	0.930000	0.56654	7.818000	0.86416	2.789000	0.95967	0.655000	0.94253	GAA		0.517	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ATXN7	6314	broad.mit.edu	37	3	63981253	63981253	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:63981253G>A	ENST00000295900.6	+	12	2305	c.1755G>A	c.(1753-1755)ccG>ccA	p.P585P	ATXN7_ENST00000538065.1_Silent_p.P585P|ATXN7_ENST00000398590.3_Silent_p.P585P|ATXN7_ENST00000484332.1_Silent_p.P440P|ATXN7_ENST00000487717.1_Silent_p.P585P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	585					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P585P(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ACTCTGTGCCGACATCACAAT	0.507																																					p.P585P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1755A	3						.						102.0	107.0	105.0					3																	63981253		2201	4299	6500	63956293	SO:0001819	synonymous_variant	6314	exon11			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1755G>A	3.37:g.63981253G>A			63956293	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	CCDS43102.1																																																																																				0.507	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
PSMD6	9861	broad.mit.edu	37	3	64008044	64008044	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:64008044G>A	ENST00000295901.4	-	2	441	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	PSMD6_ENST00000492933.1_Missense_Mutation_p.R154C|PSMD6_ENST00000482510.1_Missense_Mutation_p.R62C|PSMD6_ENST00000394431.2_Missense_Mutation_p.R63C|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)	p.R101C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATTGCATCGCGAATTTCGCTC	0.448																																					p.R101C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	3						.						173.0	166.0	168.0					3																	64008044		2203	4300	6503	63983084	SO:0001583	missense	9861	exon2			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.301C>T	3.37:g.64008044G>A	ENSP00000295901:p.Arg101Cys		63983084	NM_014814	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735132	0.89482	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.19	5.19	0.71726	.	0.053884	0.85682	D	0.000000	D	0.89805	0.6821	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.973;0.977;0.997	D	0.91885	0.5519	10	0.87932	D	0	.	18.9179	0.92513	0.0:0.0:1.0:0.0	.	63;62;154;101	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	C	101;154;63;62;115;122	ENSP00000295901:R101C;ENSP00000418695:R154C;ENSP00000377952:R63C;ENSP00000419227:R62C;ENSP00000418887:R115C	ENSP00000295901:R101C	R	-	1	0	PSMD6	63983084	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	6.240000	0.72363	2.705000	0.92388	0.655000	0.94253	CGC		0.448	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
PRICKLE2	166336	broad.mit.edu	37	3	64085530	64085530	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:64085530C>A	ENST00000295902.6	-	8	2317	c.1732G>T	c.(1732-1734)Gac>Tac	p.D578Y	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D634Y|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	578					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D578Y(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATTCCAGAGTCTTTGCTGAGG	0.567																																					p.D578Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1732T	3						.						142.0	145.0	144.0					3																	64085530		2203	4300	6503	64060570	SO:0001583	missense	166336	exon8			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1732G>T	3.37:g.64085530C>A	ENSP00000295902:p.Asp578Tyr		64060570	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237273	0.58886	.	.	ENSG00000163637	ENST00000295902	T	0.61274	0.12	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	L	0.50333	1.59	0.80722	D	1	D	0.58970	0.984	P	0.54372	0.75	T	0.68262	-0.5455	10	0.59425	D	0.04	-49.8215	19.6573	0.95847	0.0:1.0:0.0:0.0	.	578	Q7Z3G6	PRIC2_HUMAN	Y	578	ENSP00000295902:D578Y	ENSP00000295902:D578Y	D	-	1	0	PRICKLE2	64060570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.037000	0.70956	2.655000	0.90218	0.591000	0.81541	GAC		0.567	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
PRICKLE2	166336	broad.mit.edu	37	3	64138904	64138904	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:64138904G>A	ENST00000295902.6	-	6	1326	c.741C>T	c.(739-741)ttC>ttT	p.F247F	PRICKLE2_ENST00000564377.1_Silent_p.F303F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	247	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F247F(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACAAGGACTCGAAGCAGTGGC	0.507																																					p.F247F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741T	3						.						191.0	169.0	177.0					3																	64138904		2203	4300	6503	64113944	SO:0001819	synonymous_variant	166336	exon6			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.741C>T	3.37:g.64138904G>A			64113944	NM_198859	Q0VF44	Silent	SNP	ENST00000295902.6	37	CCDS2902.1																																																																																				0.507	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
ADAMTS9	56999	broad.mit.edu	37	3	64526846	64526846	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:64526846G>A	ENST00000498707.1	-	36	5788	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1788W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1816	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1816W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TAATCCTTCCGACATTGGCAG	0.463																																					p.R1816W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5446T	3						.						84.0	84.0	84.0					3																	64526846		2203	4300	6503	64501886	SO:0001583	missense	56999	exon36			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5446C>T	3.37:g.64526846G>A	ENSP00000418735:p.Arg1816Trp		64501886	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586098	0.66105	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18657	2.2;2.2	5.73	4.85	0.62838	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.978	T	0.35226	-0.9797	10	0.72032	D	0.01	.	13.0483	0.58939	0.0:0.0:0.559:0.441	.	1788;1816	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	W	1788;1816	ENSP00000295903:R1788W;ENSP00000418735:R1816W	ENSP00000295903:R1788W	R	-	1	2	ADAMTS9	64501886	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.893000	0.39758	1.400000	0.46741	0.655000	0.94253	CGG		0.463	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ADAMTS9	56999	broad.mit.edu	37	3	64587814	64587814	+	Missense_Mutation	SNP	G	G	A	rs371237082		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:64587814G>A	ENST00000498707.1	-	26	4165	c.3823C>T	c.(3823-3825)Cgg>Tgg	p.R1275W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1247W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1275	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1275W(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACTCACTCCGATCGATCACG	0.522																																					p.R1275W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3823T	3						.	T	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	179.0	154.0	162.0		3823	3.8	0.6	3		162	0,8600		0,0,4300	no	missense	ADAMTS9	NM_182920.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1275/1936	64587814	1,13005	2203	4300	6503	64562854	SO:0001583	missense	56999	exon26			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3823C>T	3.37:g.64587814G>A	ENSP00000418735:p.Arg1275Trp		64562854	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335256	0.41398	2.27E-4	0.0	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.61274	0.12;0.12	5.55	3.75	0.43078	.	0.782790	0.12266	N	0.484287	T	0.60025	0.2237	M	0.65677	2.01	0.34235	D	0.677001	D;D;P	0.55605	0.962;0.972;0.922	P;P;P	0.46320	0.512;0.471;0.512	T	0.69840	-0.5036	10	0.87932	D	0	.	9.8229	0.40894	0.0:0.234:0.499:0.267	.	1247;1275;1275	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	W	1247;1275	ENSP00000295903:R1247W;ENSP00000418735:R1275W	ENSP00000295903:R1247W	R	-	1	2	ADAMTS9	64562854	0.002000	0.14202	0.625000	0.29200	0.408000	0.30992	0.733000	0.26087	0.889000	0.36185	-0.188000	0.12872	CGG		0.522	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
MAGI1	9223	broad.mit.edu	37	3	65346916	65346916	+	Missense_Mutation	SNP	G	G	A	rs201117026	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:65346916G>A	ENST00000497477.2	-	21	3390	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	MAGI1_ENST00000483466.1_Missense_Mutation_p.R1227C|MAGI1_ENST00000330909.8_Missense_Mutation_p.R1226C|RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000402939.2_Missense_Mutation_p.R1198C			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1227	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R1198C(2)|p.R1227C(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGAAACAGACGAACTCTGCGG	0.443													G|||	11	0.00219649	0.0	0.0	5008	,	,		18165	0.0		0.0	False		,,,				2504	0.0112				p.R1226C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3676T	3						.						142.0	131.0	134.0					3																	65346916		2203	4300	6503	65321956	SO:0001583	missense	9223	exon23			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.3391C>T	3.37:g.65346916G>A	ENSP00000424369:p.Arg1131Cys		65321956	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	G	29.1	4.973719	0.92919	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.78	5.78	0.91487	.	0.110600	0.64402	D	0.000005	T	0.59622	0.2207	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;0.998	D;D;D;D	0.67900	0.95;0.949;0.954;0.921	T	0.59925	-0.7362	10	0.51188	T	0.08	-20.0636	20.0278	0.97529	0.0:0.0:1.0:0.0	.	1131;1227;1198;1226	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.	C	1198;1226;1122;1102;1227;1131;985	ENSP00000385450:R1198C;ENSP00000331157:R1226C;ENSP00000418177:R1102C;ENSP00000420323:R1227C;ENSP00000424369:R1131C;ENSP00000420796:R985C	ENSP00000331157:R1226C	R	-	1	0	MAGI1	65321956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.717000	0.92951	0.650000	0.86243	CGT		0.443	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
MAGI1	9223	broad.mit.edu	37	3	66023951	66023951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:66023951C>T	ENST00000497477.2	-	1	32	c.33G>A	c.(31-33)tgG>tgA	p.W11*	MAGI1_ENST00000483466.1_Nonsense_Mutation_p.W11*|MAGI1_ENST00000330909.8_Nonsense_Mutation_p.W11*|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.W11*			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	11					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.W11*(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCCTGCTAGTCCAGTGGTTCT	0.597																																					p.W11X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G33A	3						.						57.0	62.0	60.0					3																	66023951		2148	4212	6360	65998991	SO:0001587	stop_gained	9223	exon1			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.33G>A	3.37:g.66023951C>T	ENSP00000424369:p.Trp11*		65998991	NM_015520	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Nonsense_Mutation	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	40	7.927489	0.98565	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000483466;ENST00000497477	.	.	.	5.78	5.78	0.91487	.	0.135317	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5036	20.0009	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000331157:W11X	W	-	3	0	MAGI1	65998991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.734000	0.93682	0.591000	0.81541	TGG		0.597	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
LRIG1	26018	broad.mit.edu	37	3	66512866	66512866	+	Nonsense_Mutation	SNP	C	C	A	rs143616236	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:66512866C>A	ENST00000273261.3	-	2	810	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	LRIG1_ENST00000383703.3_Nonsense_Mutation_p.E96*	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	96					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E96*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTCACACTTCCTGTAGGTTC	0.483																																					p.E96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G286T	3						.						87.0	82.0	83.0					3																	66512866		2203	4300	6503	66595556	SO:0001587	stop_gained	26018	exon2			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.286G>T	3.37:g.66512866C>A	ENSP00000273261:p.Glu96*		66595556	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Nonsense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	41	9.058128	0.99051	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.1515	0.89676	0.0:1.0:0.0:0.0	.	.	.	.	X	96;96;23	.	ENSP00000273261:E96X	E	-	1	0	LRIG1	66595556	1.000000	0.71417	0.996000	0.52242	0.410000	0.31052	5.349000	0.66010	2.723000	0.93209	0.563000	0.77884	GAA		0.483	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
KBTBD8	84541	broad.mit.edu	37	3	67058529	67058529	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:67058529G>T	ENST00000417314.2	+	4	1575	c.1526G>T	c.(1525-1527)tGg>tTg	p.W509L	KBTBD8_ENST00000295568.4_Missense_Mutation_p.W483L|KBTBD8_ENST00000460576.1_Missense_Mutation_p.W67L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	509						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.W483L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTAAATAAATGGACTCGTAAG	0.373																																					p.W509L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1526T	3						.						133.0	128.0	130.0					3																	67058529		2203	4300	6503	67141219	SO:0001583	missense	84541	exon4			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1526G>T	3.37:g.67058529G>T	ENSP00000401878:p.Trp509Leu		67141219	NM_032505	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095288	0.76870	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	D;D;D	0.96940	-4.18;-4.18;-4.18	5.57	5.57	0.84162	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.98516	0.9505	M	0.89968	3.075	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.992;0.995	D	0.99316	1.0905	10	0.87932	D	0	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	67;509	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	L	483;67;509	ENSP00000295568:W483L;ENSP00000419738:W67L;ENSP00000401878:W509L	ENSP00000295568:W483L	W	+	2	0	KBTBD8	67141219	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.435000	0.97529	2.629000	0.89072	0.650000	0.86243	TGG		0.373	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
KBTBD8	84541	broad.mit.edu	37	3	67058648	67058648	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:67058648G>A	ENST00000417314.2	+	4	1694	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	KBTBD8_ENST00000295568.4_Missense_Mutation_p.V523I|KBTBD8_ENST00000460576.1_Missense_Mutation_p.V107I			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	549						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.V523I(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGAAGAACACGTCTTCAGAAC	0.423																																					p.V549I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1645A	3						.						109.0	107.0	107.0					3																	67058648		2203	4300	6503	67141338	SO:0001583	missense	84541	exon4			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1645G>A	3.37:g.67058648G>A	ENSP00000401878:p.Val549Ile		67141338	NM_032505	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	9.894	1.204911	0.22205	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71341	-0.55;-0.39;-0.56	5.57	3.75	0.43078	Kelch-type beta propeller (1);	5.341630	0.00885	N	0.002172	T	0.56543	0.1992	N	0.08118	0	0.47778	D	0.999512	B;B	0.15719	0.014;0.014	B;B	0.08055	0.002;0.003	T	0.23154	-1.0196	10	0.42905	T	0.14	.	10.8349	0.46681	0.1535:0.0:0.8465:0.0	.	107;549	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	I	523;107;549	ENSP00000295568:V523I;ENSP00000419738:V107I;ENSP00000401878:V549I	ENSP00000295568:V523I	V	+	1	0	KBTBD8	67141338	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.716000	0.74702	1.331000	0.45412	0.650000	0.86243	GTC		0.423	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
EOGT	285203	broad.mit.edu	37	3	69026864	69026864	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:69026864C>T	ENST00000383701.3	-	18	2231	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	EOGT_ENST00000540764.1_Missense_Mutation_p.D396N|EOGT_ENST00000295571.5_Missense_Mutation_p.D413N|EOGT_ENST00000540955.1_Missense_Mutation_p.D221N	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	497					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)	p.D413N(1)									TCTTCTACATCGAAAGAGTAG	0.438																																					p.D413N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	3						.						95.0	94.0	94.0					3																	69026864		2203	4300	6503	69109554	SO:0001583	missense	285203	exon15			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1489G>A	3.37:g.69026864C>T	ENSP00000373206:p.Asp497Asn		69109554	NM_173654	A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	ENST00000383701.3	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418000	0.83449	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540955;ENST00000540764	.	.	.	5.52	5.52	0.82312	.	0.086932	0.85682	D	0.000000	T	0.76090	0.3939	M	0.66439	2.03	0.80722	D	1	P;D	0.67145	0.956;0.996	B;P	0.59424	0.303;0.857	T	0.77148	-0.2694	9	0.56958	D	0.05	.	19.4306	0.94762	0.0:1.0:0.0:0.0	.	497;413	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	N	497;413;221;396	.	ENSP00000295571:D413N	D	-	1	0	C3orf64	69109554	1.000000	0.71417	0.313000	0.25210	0.967000	0.64934	5.933000	0.70130	2.610000	0.88304	0.591000	0.81541	GAT		0.438	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654	
UBA3	9039	broad.mit.edu	37	3	69113221	69113221	+	Missense_Mutation	SNP	C	C	T	rs373601125		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:69113221C>T	ENST00000361055.4	-	7	524	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	UBA3_ENST00000415609.2_Missense_Mutation_p.R116Q|UBA3_ENST00000349511.4_Missense_Mutation_p.R143Q|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	157	Interaction with UBE2M N-terminus.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.R157Q(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AAACTTACGTCGATAGAAAGT	0.284																																					p.R143Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G428A	3						.	C	GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	54.0	55.0	55.0		470,428	5.9	1.0	3		55	0,8596		0,0,4298	no	missense,missense	UBA3	NM_003968.3,NM_198195.1	43,43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	157/464,143/450	69113221	1,12999	2202	4298	6500	69195911	SO:0001583	missense	9039	exon6			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.470G>A	3.37:g.69113221C>T	ENSP00000354340:p.Arg157Gln		69195911	NM_198195	A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191943	0.78902	2.27E-4	0.0	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511	T;T;T	0.29917	1.55;1.55;1.55	5.92	5.92	0.95590	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	0.23210	0.0561	N	0.20685	0.6	0.80722	D	1	P;P	0.50369	0.798;0.934	B;B	0.39840	0.207;0.311	T	0.01643	-1.1305	10	0.27082	T	0.32	-8.0353	19.9157	0.97061	0.0:1.0:0.0:0.0	.	143;157	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	Q	116;157;143	ENSP00000400294:R116Q;ENSP00000354340:R157Q;ENSP00000340041:R143Q	ENSP00000340041:R143Q	R	-	2	0	UBA3	69195911	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.067000	0.64357	2.809000	0.96659	0.655000	0.94253	CGA		0.284	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	
LMOD3	56203	broad.mit.edu	37	3	69171329	69171329	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:69171329G>T	ENST00000420581.2	-	1	388	c.209C>A	c.(208-210)tCt>tAt	p.S70Y	LMOD3_ENST00000489031.1_Missense_Mutation_p.S70Y|LMOD3_ENST00000475434.1_Missense_Mutation_p.S70Y	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	70						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S70Y(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ATCAACAAGAGATTTATGATT	0.468																																					p.S70Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C209A	3						.						80.0	76.0	77.0					3																	69171329		1860	4104	5964	69254019	SO:0001583	missense	56203	exon1			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.209C>A	3.37:g.69171329G>T	ENSP00000414670:p.Ser70Tyr		69254019	NM_198271	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333189	0.81801	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.31769	1.48;1.48;1.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62525	-0.6836	10	0.72032	D	0.01	-17.5402	19.8051	0.96529	0.0:0.0:1.0:0.0	.	70	Q0VAK6	LMOD3_HUMAN	Y	70	ENSP00000414670:S70Y;ENSP00000417210:S70Y;ENSP00000418645:S70Y	ENSP00000414670:S70Y	S	-	2	0	LMOD3	69254019	1.000000	0.71417	0.919000	0.36401	0.926000	0.56050	7.876000	0.87215	2.702000	0.92279	0.591000	0.81541	TCT		0.468	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529	
FRMD4B	23150	broad.mit.edu	37	3	69225805	69225805	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:69225805A>G	ENST00000398540.3	-	22	2937	c.2854T>C	c.(2854-2856)Tct>Cct	p.S952P	FRMD4B_ENST00000478263.1_Missense_Mutation_p.S604P|FRMD4B_ENST00000542259.1_Missense_Mutation_p.S898P	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	952					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.S898P(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTTGTAGAAGACACTGGAAAT	0.383																																					p.S952P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2854C	3						.						71.0	68.0	69.0					3																	69225805		1853	4103	5956	69308495	SO:0001583	missense	23150	exon22			AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2854T>C	3.37:g.69225805A>G	ENSP00000381549:p.Ser952Pro		69308495	NM_015123	Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331824	0.81801	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.85955	-2.05;-2.02	5.69	5.69	0.88448	.	0.120249	0.64402	D	0.000020	D	0.91140	0.7210	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.963	D	0.92019	0.5624	10	0.87932	D	0	-14.4619	14.5303	0.67920	1.0:0.0:0.0:0.0	.	796;952	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	P	952;898;604	ENSP00000381549:S952P;ENSP00000437658:S898P	ENSP00000381549:S952P	S	-	1	0	FRMD4B	69308495	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.534000	0.82004	2.180000	0.69256	0.482000	0.46254	TCT		0.383	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1		
MITF	4286	broad.mit.edu	37	3	70008425	70008425	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:70008425G>T	ENST00000448226.2	+	9	1160	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	MITF_ENST00000531774.1_Splice_Site_p.D176Y|MITF_ENST00000394351.3_Splice_Site_p.D238Y|MITF_ENST00000314589.5_Splice_Site_p.D323Y|MITF_ENST00000314557.6_Splice_Site_p.D232Y|MITF_ENST00000352241.4_Splice_Site_p.D339Y|MITF_ENST00000394355.2_Splice_Site_p.D314Y|MITF_ENST00000328528.6_Splice_Site_p.D338Y|MITF_ENST00000472437.1_Splice_Site_p.D287Y			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	345	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.D238Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCATCGCAGAGACATGCGCTG	0.378			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														p.D232Y	Melanoma(29;269 969 31479 41502 42961)		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694T	3						.						65.0	61.0	62.0					3																	70008425		2203	4300	6503	70091115	SO:0001630	splice_region_variant	4286	exon8				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1032-1G>T	3.37:g.70008425G>T			70091115	NM_198158	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	G	29.0	4.968133	0.92855	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	D;D;D;D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.998;0.998;1.0;0.998	D;D;D;D;D;D;D	0.79784	0.992;0.987;0.987;0.987;0.987;0.993;0.987	D	0.99113	1.0847	9	.	.	.	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	287;238;232;314;323;338;339	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	Y	339;345;287;338;329;323;314;232;238;176	ENSP00000295600:D339Y;ENSP00000391803:D345Y;ENSP00000418845:D287Y;ENSP00000327867:D338Y;ENSP00000398639:D329Y;ENSP00000324443:D323Y;ENSP00000377884:D314Y;ENSP00000324246:D232Y;ENSP00000377880:D238Y;ENSP00000435909:D176Y	.	D	+	1	0	MITF	70091115	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.869000	0.99810	2.808000	0.96608	0.650000	0.86243	GAC		0.378	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	Missense_Mutation
SHQ1	55164	broad.mit.edu	37	3	72799866	72799866	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:72799866C>T	ENST00000325599.8	-	11	1442	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.A407T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	435					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A435T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCTTTTAATGCAGTTTCTTCC	0.507																																					p.A435T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1303A	3						.						23.0	19.0	20.0					3																	72799866		2194	4286	6480	72882556	SO:0001583	missense	55164	exon11			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1303G>A	3.37:g.72799866C>T	ENSP00000315182:p.Ala435Thr		72882556	NM_018130	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055587	0.36277	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.32272	1.48;1.46	5.74	1.88	0.25563	.	0.825722	0.11178	N	0.591225	T	0.15955	0.0384	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34453	-0.9828	10	0.15499	T	0.54	-10.9844	5.8337	0.18594	0.1223:0.606:0.0:0.2717	.	435	Q6PI26	SHQ1_HUMAN	T	435;407	ENSP00000315182:A435T;ENSP00000417452:A407T	ENSP00000315182:A435T	A	-	1	0	SHQ1	72882556	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.000000	0.12993	0.336000	0.23639	0.655000	0.94253	GCA		0.507	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
EBLN2	55096	broad.mit.edu	37	3	73111558	73111558	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:73111558C>A	ENST00000533473.1	+	1	749	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	109								p.S109Y(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GCAGCCAAGTCTATGCTAGAC	0.423																																					p.S109Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326A	3						.						61.0	56.0	57.0					3																	73111558		1908	4110	6018	73194248	SO:0001583	missense	55096	exon1				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.326C>A	3.37:g.73111558C>A	ENSP00000432104:p.Ser109Tyr		73194248	NM_018029	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085634	0.20390	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	0.458	0.16670	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.38639	0.1048	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	D	0.67382	0.951	T	0.22173	-1.0224	7	0.87932	D	0	.	.	.	.	.	109	Q6P2I7	EBLN2_HUMAN	Y	109	.	ENSP00000432104:S109Y	S	+	2	0	EBLN2	73194248	0.039000	0.19947	0.002000	0.10522	0.002000	0.02628	0.305000	0.19254	0.482000	0.27582	0.484000	0.47621	TCT		0.423	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029	
EBLN2	55096	broad.mit.edu	37	3	73111987	73111987	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:73111987T>C	ENST00000533473.1	+	1	1178	c.755T>C	c.(754-756)tTa>tCa	p.L252S	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	252								p.L252S(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GTTGGAGAATTAATGTTCACA	0.428																																					p.L252S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T755C	3						.						190.0	195.0	193.0					3																	73111987		1927	4119	6046	73194677	SO:0001583	missense	55096	exon1				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.755T>C	3.37:g.73111987T>C	ENSP00000432104:p.Leu252Ser		73194677	NM_018029	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	T	9.950	1.219936	0.22373	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	0.468	0.16732	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.38852	0.1056	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	D	0.68943	0.961	T	0.22103	-1.0226	7	0.87932	D	0	.	.	.	.	.	252	Q6P2I7	EBLN2_HUMAN	S	252	.	ENSP00000432104:L252S	L	+	2	0	EBLN2	73194677	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	0.310000	0.19356	0.413000	0.25759	0.402000	0.26972	TTA		0.428	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029	
PDZRN3	23024	broad.mit.edu	37	3	73433453	73433453	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:73433453G>A	ENST00000263666.4	-	10	2378	c.2264C>T	c.(2263-2265)tCg>tTg	p.S755L	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S472L|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S412L|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S477L|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S412L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	755					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S755L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTAGGCGCTCGAGCTGTCCTT	0.622																																					p.S755L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2264T	3						.						35.0	34.0	34.0					3																	73433453		2203	4300	6503	73516143	SO:0001583	missense	23024	exon10			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2264C>T	3.37:g.73433453G>A	ENSP00000263666:p.Ser755Leu		73516143	NM_015009	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597000	0.87055	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.16457	2.34;3.04;2.96;2.96;3.06;2.93	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.977;0.996;0.972;0.99	T	0.56763	-0.7925	10	0.87932	D	0	.	18.2651	0.90050	0.0:0.0:1.0:0.0	.	477;472;472;755	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	L	755;477;412;412;472;453	ENSP00000263666:S755L;ENSP00000442026:S477L;ENSP00000418168:S412L;ENSP00000418484:S412L;ENSP00000418624:S472L;ENSP00000419250:S453L	ENSP00000263666:S755L	S	-	2	0	PDZRN3	73516143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.607000	0.82883	2.393000	0.81446	0.591000	0.81541	TCG		0.622	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	
ROBO2	6092	broad.mit.edu	37	3	77623726	77623726	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:77623726C>T	ENST00000461745.1	+	14	2948	c.2048C>T	c.(2047-2049)tCg>tTg	p.S683L	ROBO2_ENST00000487694.3_Missense_Mutation_p.S699L|ROBO2_ENST00000332191.8_Missense_Mutation_p.S683L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	683	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.S683L(1)|p.S699L(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCGACATCTTCGTGGCAGAAT	0.448																																					p.S683L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2048T	3						.						101.0	91.0	94.0					3																	77623726		1917	4129	6046	77706416	SO:0001583	missense	6092	exon14			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2048C>T	3.37:g.77623726C>T	ENSP00000417164:p.Ser683Leu		77706416	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840121	0.16891	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57436	0.4;0.4;0.4	5.7	4.82	0.62117	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.147300	0.06721	N	0.774782	T	0.49389	0.1554	L	0.46157	1.445	0.25363	N	0.988766	B;B;B	0.27380	0.177;0.025;0.056	B;B;B	0.25884	0.064;0.05;0.041	T	0.49808	-0.8900	9	0.46703	T	0.11	.	10.706	0.45956	0.0:0.8315:0.0:0.1685	.	699;683;683	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	L	699;699;703;683;683;404	ENSP00000417335:S699L;ENSP00000417164:S683L;ENSP00000327536:S683L	ENSP00000327536:S683L	S	+	2	0	ROBO2	77706416	0.002000	0.14202	0.003000	0.11579	0.076000	0.17211	1.911000	0.39937	1.374000	0.46228	0.585000	0.79938	TCG		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77651534	77651534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:77651534G>T	ENST00000461745.1	+	20	3928	c.3028G>T	c.(3028-3030)Gaa>Taa	p.E1010*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.E1026*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.E1010*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1010					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.E1026*(1)|p.E1010*(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGCATACATGAATTGGCTGT	0.428																																					p.E1010X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3028T	3						.						117.0	107.0	110.0					3																	77651534		1967	4164	6131	77734224	SO:0001587	stop_gained	6092	exon20			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3028G>T	3.37:g.77651534G>T	ENSP00000417164:p.Glu1010*		77734224	NM_002942	O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	41|41|41	9.028693|9.028693|9.028693	0.99040|0.99040|0.99040	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000490991|ENST00000398467;ENST00000471893	.|.|.	.|.|.	.|.|.	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	0.000000|.|.	0.46758|.|.	D|.|.	0.000277|.|.	.|T|.	.|0.80065|.	.|0.4555|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.77590|.	.|-0.2531|.	.|3|.	0.13853|.|.	T|.|.	0.58|.|.	.|.|.	20.1432|20.1432|20.1432	0.98067|0.98067|0.98067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	1026;1026;1030;1010;1010|166|571;84	.|.|.	ENSP00000327536:E1010X|.|.	E|M|X	+|+|+	1|3|2	0|0|2	ROBO2|ROBO2|ROBO2	77734224|77734224|77734224	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.990000|0.990000|0.990000	0.47175|0.47175|0.47175	0.898000|0.898000|0.898000	0.52572|0.52572|0.52572	9.476000|9.476000|9.476000	0.97823|0.97823|0.97823	2.769000|2.769000|2.769000	0.95229|0.95229|0.95229	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAA|ATG|TGA		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78649271	78649271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78649271C>A	ENST00000464233.1	-	30	5046	c.4933G>T	c.(4933-4935)Gaa>Taa	p.E1645*	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.E1606*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.E1545*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.E1600*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1645					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.E1622*(1)|p.E1645*(1)|p.E1600*(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACCTCTAATTCTTCATTATTA	0.353																																					p.E1645X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G4933T	3						.						135.0	127.0	130.0					3																	78649271		1832	4081	5913	78731961	SO:0001587	stop_gained	6091	exon30			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4933G>T	3.37:g.78649271C>A	ENSP00000420321:p.Glu1645*		78731961	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	44	10.997467	0.99500	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	5.61	5.61	0.85477	.	0.159083	0.56097	D	0.000035	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	.	.	.	X	1606;1600;1645;1600;1545;1649	.	.	E	-	1	0	ROBO1	78731961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.902000	0.69869	2.652000	0.90054	0.555000	0.69702	GAA		0.353	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78663818	78663818	+	Missense_Mutation	SNP	C	C	T	rs573160338		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78663818C>T	ENST00000464233.1	-	28	4528	c.4415G>A	c.(4414-4416)cGc>cAc	p.R1472H	ROBO1_ENST00000436010.2_Missense_Mutation_p.R1433H|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1372H|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1427H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1472					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.R1472H(1)|p.R1427H(1)|p.R1449H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTTTCTCTGCGCAGATGTCC	0.498																																					p.R1472H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G4415A	3						.						131.0	135.0	134.0					3																	78663818		2002	4179	6181	78746508	SO:0001583	missense	6091	exon28			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4415G>A	3.37:g.78663818C>T	ENSP00000420321:p.Arg1472His		78746508	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555076	0.96514	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.68181	-0.25;-0.29;-0.26;-0.31	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	L	0.29908	0.895	0.80722	D	1	D;D;D;B;B	0.76494	0.999;0.997;0.999;0.099;0.236	D;B;P;B;B	0.80764	0.994;0.389;0.869;0.014;0.015	T	0.71230	-0.4654	9	.	.	.	.	19.327	0.94265	0.0:1.0:0.0:0.0	.	1436;1472;1427;1372;1433	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	H	1433;1427;1472;1427;1372;1476	ENSP00000406043:R1433H;ENSP00000420321:R1472H;ENSP00000420637:R1427H;ENSP00000417992:R1372H	.	R	-	2	0	ROBO1	78746508	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.408000	0.59761	2.636000	0.89361	0.585000	0.79938	CGC		0.498	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78676538	78676538	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78676538C>T	ENST00000464233.1	-	26	3921	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K	ROBO1_ENST00000436010.2_Missense_Mutation_p.E1231K|ROBO1_ENST00000467549.1_Missense_Mutation_p.E1170K|ROBO1_ENST00000495273.1_Missense_Mutation_p.E1225K	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1270					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.E1225K(1)|p.E1247K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCTGGAGTTCTTCCTGTGGG	0.567																																					p.E1270K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3808A	3						.						52.0	61.0	58.0					3																	78676538		2164	4271	6435	78759228	SO:0001583	missense	6091	exon26			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3808G>A	3.37:g.78676538C>T	ENSP00000420321:p.Glu1270Lys		78759228	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480389	0.84747	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.71103	-0.49;-0.53;-0.54;-0.31	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.32530	0.975	0.80722	D	1	D;P;D;P;P	0.67145	0.996;0.949;0.983;0.74;0.745	D;P;P;B;P	0.76071	0.987;0.694;0.701;0.214;0.545	T	0.75224	-0.3393	9	.	.	.	.	19.2858	0.94069	0.0:1.0:0.0:0.0	.	1234;1270;1225;1170;1231	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	K	1231;1225;1270;1225;1170;1274	ENSP00000406043:E1231K;ENSP00000420321:E1270K;ENSP00000420637:E1225K;ENSP00000417992:E1170K	.	E	-	1	0	ROBO1	78759228	1.000000	0.71417	0.978000	0.43139	0.203000	0.24098	7.772000	0.85439	2.630000	0.89119	0.561000	0.74099	GAA		0.567	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78700930	78700930	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78700930G>A	ENST00000464233.1	-	19	2877	c.2764C>T	c.(2764-2766)Cgc>Tgc	p.R922C	ROBO1_ENST00000436010.2_Missense_Mutation_p.R883C|ROBO1_ENST00000467549.1_Missense_Mutation_p.R886C|ROBO1_ENST00000495273.1_Missense_Mutation_p.R886C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	922					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.R899C(1)|p.R886C(1)|p.R922C(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTCTTCTTGCGGTGTCGATAA	0.433																																					p.R922C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2764T	3						.						90.0	86.0	87.0					3																	78700930		1975	4172	6147	78783620	SO:0001583	missense	6091	exon19			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2764C>T	3.37:g.78700930G>A	ENSP00000420321:p.Arg922Cys		78783620	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553084	0.45487	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.67865	-0.26;-0.29;-0.11;-0.04	6.08	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;0.998;1.0;1.0	T	0.80663	-0.1282	9	.	.	.	.	15.9016	0.79380	0.0:0.0:0.4121:0.5879	.	886;922;886;886;883	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	C	883;886;922;886;886;926	ENSP00000406043:R883C;ENSP00000420321:R922C;ENSP00000420637:R886C;ENSP00000417992:R886C	.	R	-	1	0	ROBO1	78783620	1.000000	0.71417	0.914000	0.36105	0.034000	0.12701	2.061000	0.41403	0.411000	0.25702	0.655000	0.94253	CGC		0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78708901	78708901	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78708901C>A	ENST00000464233.1	-	17	2490	c.2377G>T	c.(2377-2379)Gca>Tca	p.A793S	ROBO1_ENST00000436010.2_Missense_Mutation_p.A754S|ROBO1_ENST00000467549.1_Missense_Mutation_p.A757S|ROBO1_ENST00000495273.1_Missense_Mutation_p.A757S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	793	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.A770S(1)|p.A793S(1)|p.A757S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTAGAATTGCAGTTCCGTTT	0.383																																					p.A793S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2377T	3						.						53.0	53.0	53.0					3																	78708901		1848	4092	5940	78791591	SO:0001583	missense	6091	exon17			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2377G>T	3.37:g.78708901C>A	ENSP00000420321:p.Ala793Ser		78791591	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697056	0.30142	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.95	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.045914	0.85682	N	0.000000	T	0.40347	0.1113	N	0.01352	-0.895	0.47621	D	0.999474	B;B;D;B;B	0.89917	0.001;0.169;1.0;0.226;0.072	B;B;D;B;B	0.91635	0.004;0.267;0.999;0.267;0.122	T	0.57033	-0.7880	9	.	.	.	.	16.4882	0.84190	0.1322:0.8678:0.0:0.0	.	757;793;757;757;754	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	S	754;757;793;757;757;797	ENSP00000406043:A754S;ENSP00000420321:A793S;ENSP00000420637:A757S;ENSP00000417992:A757S	.	A	-	1	0	ROBO1	78791591	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	2.285000	0.43487	1.502000	0.48669	0.491000	0.48974	GCA		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
ROBO1	6091	broad.mit.edu	37	3	78717122	78717122	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:78717122G>T	ENST00000464233.1	-	14	1990	c.1877C>A	c.(1876-1878)cCt>cAt	p.P626H	ROBO1_ENST00000436010.2_Missense_Mutation_p.P587H|ROBO1_ENST00000467549.1_Missense_Mutation_p.P590H|ROBO1_ENST00000495273.1_Missense_Mutation_p.P590H	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	626	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P590H(1)|p.P603H(1)|p.P626H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATTGCATTAGGTTTGAGTCC	0.413																																					p.P626H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1877A	3						.						97.0	94.0	95.0					3																	78717122		1942	4148	6090	78799812	SO:0001583	missense	6091	exon14			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1877C>A	3.37:g.78717122G>T	ENSP00000420321:p.Pro626His		78799812	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005982	0.93287	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414;ENST00000495961	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	H	0.94345	3.525	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.90312	0.4338	9	.	.	.	.	20.139	0.98050	0.0:0.0:1.0:0.0	.	590;590;626;590;590;587	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	H	587;590;626;590;590;630;163	ENSP00000406043:P587H;ENSP00000420321:P626H;ENSP00000420637:P590H;ENSP00000417992:P590H;ENSP00000418553:P163H	.	P	-	2	0	ROBO1	78799812	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.771000	0.98977	2.764000	0.94973	0.655000	0.94253	CCT		0.413	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
GBE1	2632	broad.mit.edu	37	3	81720073	81720073	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:81720073T>G	ENST00000429644.2	-	3	988	c.345A>C	c.(343-345)aaA>aaC	p.K115N	GBE1_ENST00000489715.1_Missense_Mutation_p.K74N|GBE1_ENST00000477426.1_5'UTR	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	115					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.K115N(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AATCCAGTTTTTTGTATGGGT	0.358									Glycogen Storage Disease, type IV																												p.K115N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A345C	3						.						72.0	68.0	70.0					3																	81720073		1813	4090	5903	81802763	SO:0001583	missense	2632	exon3	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.345A>C	3.37:g.81720073T>G	ENSP00000410833:p.Lys115Asn		81802763	NM_000158	B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123697	0.37436	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18960	2.18;2.19	5.5	5.5	0.81552	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.304797	0.35838	N	0.002955	T	0.26810	0.0656	L	0.41573	1.285	0.41283	D	0.986926	B;P	0.49447	0.08;0.924	B;P	0.52598	0.055;0.703	T	0.01945	-1.1242	10	0.49607	T	0.09	-11.6962	9.6647	0.39977	0.0:0.0818:0.0:0.9182	.	74;115	E9PGM4;Q04446	.;GLGB_HUMAN	N	115;166;74	ENSP00000410833:K115N;ENSP00000419638:K74N	ENSP00000264326:K166N	K	-	3	2	GBE1	81802763	0.995000	0.38212	1.000000	0.80357	0.719000	0.41307	0.096000	0.15147	2.084000	0.62774	0.528000	0.53228	AAA		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2		
CADM2	253559	broad.mit.edu	37	3	85961686	85961686	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:85961686A>G	ENST00000407528.2	+	5	728	c.666A>G	c.(664-666)gaA>gaG	p.E222E	CADM2_ENST00000383699.3_Silent_p.E231E|CADM2_ENST00000405615.2_Silent_p.E224E	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	222					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E224E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGGTGCTAGAAATACACTGTA	0.458																																					p.E222E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A666G	3						.						99.0	88.0	92.0					3																	85961686		2203	4300	6503	86044376	SO:0001819	synonymous_variant	253559	exon5			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.666A>G	3.37:g.85961686A>G			86044376	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	CCDS54614.1																																																																																				0.458	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
CADM2	253559	broad.mit.edu	37	3	86114860	86114860	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:86114860G>A	ENST00000407528.2	+	9	1231	c.1169G>A	c.(1168-1170)cGa>cAa	p.R390Q	CADM2_ENST00000383699.3_Missense_Mutation_p.R359Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R392Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	390					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.R392Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCTTGGTCGATATCTGGCA	0.408																																					p.R390Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169A	3						.						201.0	171.0	181.0					3																	86114860		2203	4300	6503	86197550	SO:0001583	missense	253559	exon9			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1169G>A	3.37:g.86114860G>A	ENSP00000384575:p.Arg390Gln		86197550	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528575	0.85706	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.71698	-0.38;-0.59;-0.59	5.76	5.76	0.90799	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	D	0.84070	0.5391	M	0.77313	2.365	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.981;0.99;0.992	T	0.79495	-0.1780	10	0.19590	T	0.45	.	19.964	0.97260	0.0:0.0:1.0:0.0	.	392;359;390	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	359;390;392	ENSP00000373200:R359Q;ENSP00000384575:R390Q;ENSP00000384193:R392Q	ENSP00000373200:R359Q	R	+	2	0	CADM2	86197550	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	8.062000	0.89475	2.721000	0.93114	0.650000	0.86243	CGA		0.408	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
CHMP2B	25978	broad.mit.edu	37	3	87294956	87294956	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:87294956G>A	ENST00000263780.4	+	3	457	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_ENST00000494980.1_Silent_p.T73T|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	73					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.T73T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363																																					p.T73T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	3						.						83.0	88.0	87.0					3																	87294956		2203	4300	6503	87377646	SO:0001819	synonymous_variant	25978	exon3			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.219G>A	3.37:g.87294956G>A			87377646	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Silent	SNP	ENST00000263780.4	37	CCDS2918.1																																																																																				0.363	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043	
CHMP2B	25978	broad.mit.edu	37	3	87302628	87302628	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:87302628C>A	ENST00000263780.4	+	5	737	c.499C>A	c.(499-501)Ctt>Att	p.L167I	CHMP2B_ENST00000494980.1_Missense_Mutation_p.L137I|CHMP2B_ENST00000471660.1_Missense_Mutation_p.L126I	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	167					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)	p.L167I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAATCAAGTTCTTGATGAAAT	0.368																																					p.L167I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499A	3						.						104.0	101.0	102.0					3																	87302628		2203	4300	6503	87385318	SO:0001583	missense	25978	exon5			BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.499C>A	3.37:g.87302628C>A	ENSP00000263780:p.Leu167Ile		87385318	NM_014043	B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759715	0.89932	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	T;T;T	0.73363	-0.74;-0.74;-0.74	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90772	0.7103	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.997	D	0.92572	0.6067	10	0.87932	D	0	-32.3853	20.0499	0.97621	0.0:1.0:0.0:0.0	.	126;167	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	I	126;167;137	ENSP00000419998:L126I;ENSP00000263780:L167I;ENSP00000418920:L137I	ENSP00000263780:L167I	L	+	1	0	CHMP2B	87385318	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.641000	0.61375	2.734000	0.93682	0.650000	0.86243	CTT		0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043	
POU1F1	5449	broad.mit.edu	37	3	87309109	87309109	+	Missense_Mutation	SNP	G	G	A	rs104893755		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:87309109G>A	ENST00000350375.2	-	6	935	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	POU1F1_ENST00000344265.3_Missense_Mutation_p.R297W|POU1F1_ENST00000560656.1_3'UTR	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	271			R -> W (in CPHD1). {ECO:0000269|PubMed:1472057, ECO:0000269|PubMed:1509262, ECO:0000269|PubMed:15928241, ECO:0000269|PubMed:7852536}.		B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R271W(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GTTTTCACCCGTTTTTCTCTC	0.373																																					p.R297W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C889T	3	GRCh37	CM920590	POU1F1	M	rs104893755	.						97.0	100.0	99.0					3																	87309109		2202	4300	6502	87391799	SO:0001583	missense	5449	exon6			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.811C>T	3.37:g.87309109G>A	ENSP00000263781:p.Arg271Trp		87391799	NM_001122757	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835724	0.71373	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.96774	-4.12;-4.12	6.06	2.98	0.34508	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	H	0.97158	3.95	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99899	1.1155	9	0.87932	D	0	.	13.8657	0.63588	0.0:0.0:0.3248:0.6752	.	297;271	P28069-2;P28069	.;PIT1_HUMAN	W	271;297	ENSP00000263781:R271W;ENSP00000342931:R297W	ENSP00000342931:R297W	R	-	1	2	POU1F1	87391799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.730000	0.47335	0.848000	0.35191	0.650000	0.86243	CGG		0.373	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
POU1F1	5449	broad.mit.edu	37	3	87313510	87313510	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:87313510C>A	ENST00000350375.2	-	3	491	c.367G>T	c.(367-369)Gac>Tac	p.D123Y	POU1F1_ENST00000344265.3_Missense_Mutation_p.D149Y|POU1F1_ENST00000560656.1_Missense_Mutation_p.D123Y	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	123					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D123Y(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GAATCCATGTCTATTGGCTCT	0.418																																					p.D149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445T	3						.						117.0	120.0	119.0					3																	87313510		2203	4300	6503	87396200	SO:0001583	missense	5449	exon3			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.367G>T	3.37:g.87313510C>A	ENSP00000263781:p.Asp123Tyr		87396200	NM_001122757	O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215861	0.79352	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.89617	-2.54;-2.53	5.64	5.64	0.86602	.	0.151781	0.64402	D	0.000017	D	0.94149	0.8123	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.94260	0.7501	10	0.87932	D	0	.	19.6984	0.96043	0.0:1.0:0.0:0.0	.	149;123	P28069-2;P28069	.;PIT1_HUMAN	Y	123;149	ENSP00000263781:D123Y;ENSP00000342931:D149Y	ENSP00000342931:D149Y	D	-	1	0	POU1F1	87396200	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	6.949000	0.75971	2.658000	0.90341	0.655000	0.94253	GAC		0.418	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306	
HTR1F	3355	broad.mit.edu	37	3	88040034	88040034	+	Silent	SNP	C	C	T	rs111422517	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:88040034C>T	ENST00000319595.4	+	1	189	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	45					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.I45I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CCCTTGTGATCGCTGCAATTA	0.473													C|||	12	0.00239617	0.0076	0.0029	5008	,	,		17871	0.0		0.0	False		,,,				2504	0.0				p.I45I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C135T	3						.	C		37,4369	41.6+/-74.8	0,37,2166	158.0	149.0	152.0		135	-8.0	0.8	3	dbSNP_132	152	0,8600		0,0,4300	no	coding-synonymous	HTR1F	NM_000866.3		0,37,6466	TT,TC,CC		0.0,0.8398,0.2845		45/367	88040034	37,12969	2203	4300	6503	88122724	SO:0001819	synonymous_variant	3355	exon2			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.135C>T	3.37:g.88040034C>T			88122724	NM_000866		Silent	SNP	ENST00000319595.4	37	CCDS2920.1																																																																																				0.473	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866	
CGGBP1	8545	broad.mit.edu	37	3	88104993	88104993	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:88104993G>T	ENST00000398392.2	-	1	1466	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	CGGBP1_ENST00000462901.1_Missense_Mutation_p.S45Y|CGGBP1_ENST00000482016.1_Missense_Mutation_p.S45Y|CGGBP1_ENST00000309534.6_Missense_Mutation_p.S45Y|CGGBP1_ENST00000474441.1_5'Flank			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	45					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|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)	p.S45Y(2)		kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CACATTGCAAGAAGTGCAGAA	0.458																																					p.S45Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C134A	3						.						104.0	101.0	102.0					3																	88104993		1993	4177	6170	88187683	SO:0001583	missense	8545	exon4			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.134C>A	3.37:g.88104993G>T	ENSP00000381429:p.Ser45Tyr		88187683	NM_001008390	D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227033	0.22542	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901;ENST00000467332	.	.	.	5.94	5.94	0.96194	.	0.000000	0.38959	U	0.001514	T	0.38453	0.1041	N	0.19112	0.55	0.43494	D	0.995734	P	0.47910	0.902	B	0.38655	0.278	T	0.18023	-1.0350	9	0.27785	T	0.31	.	17.5861	0.87982	0.0:0.0:1.0:0.0	.	45	Q9UFW8	CGBP1_HUMAN	Y	45	.	ENSP00000381428:S45Y	S	-	2	0	CGGBP1	88187683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.635000	0.61332	2.834000	0.97654	0.558000	0.71614	TCT		0.458	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390	
ZNF654	55279	broad.mit.edu	37	3	88189527	88189527	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:88189527A>C	ENST00000309495.5	+	1	1274	c.1067A>C	c.(1066-1068)aAt>aCt	p.N356T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	356					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.N356T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TCATCTAGTAATGAGAAACAA	0.358																																					p.N356T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1067C	3						.						39.0	36.0	37.0					3																	88189527		1835	4087	5922	88272217	SO:0001583	missense	55279	exon1			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1067A>C	3.37:g.88189527A>C	ENSP00000312141:p.Asn356Thr		88272217	NM_018293	Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	A	5.889	0.348231	0.11126	.	.	ENSG00000175105	ENST00000309495	T	0.09723	2.95	5.53	3.16	0.36331	.	.	.	.	.	T	0.06325	0.0163	N	0.22421	0.69	0.26201	N	0.979446	B	0.28713	0.22	B	0.24541	0.054	T	0.38112	-0.9676	9	0.10377	T	0.69	.	8.5796	0.33621	0.7926:0.0:0.2074:0.0	.	356	Q8IZM8	ZN654_HUMAN	T	356	ENSP00000312141:N356T	ENSP00000312141:N356T	N	+	2	0	ZNF654	88272217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.398000	0.34554	0.919000	0.36945	0.533000	0.62120	AAT		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293	
EPHA3	2042	broad.mit.edu	37	3	89448643	89448643	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:89448643T>G	ENST00000336596.2	+	7	1819				EPHA3_ENST00000494014.1_Intron|EPHA3_ENST00000452448.2_Missense_Mutation_p.F536C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.F536C(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGTATTATTTCAATGCAGTC	0.408										TSP Lung(6;0.00050)																											p.F536C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1607G	3						.						80.0	74.0	76.0					3																	89448643		2203	4300	6503	89531333	SO:0001627	intron_variant	2042	exon7			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1594+13T>G	3.37:g.89448643T>G			89531333	NM_182644	Q9H2V3|Q9H2V4	Intron	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390698	0.42410	.	.	ENSG00000044524	ENST00000452448	T	0.11169	2.8	5.53	4.35	0.52113	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.22779	N	0.998744	P	0.49447	0.924	B	0.39419	0.299	T	0.25847	-1.0120	7	.	.	.	.	6.7934	0.23711	0.1343:0.0723:0.0:0.7934	.	536	P29320-2	.	C	536	ENSP00000399926:F536C	.	F	+	2	0	EPHA3	89531333	0.814000	0.29104	0.011000	0.14972	0.272000	0.26649	3.050000	0.49877	0.901000	0.36495	0.460000	0.39030	TTC		0.408	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
PROS1	5627	broad.mit.edu	37	3	93619648	93619648	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:93619648C>A	ENST00000394236.3	-	7	1043	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	PROS1_ENST00000407433.1_Splice_Site_p.D112Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	243	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		D -> N (in THPH5). {ECO:0000269|PubMed:11372770}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.D243Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ATCATCCTACCTTCACAAGAC	0.423																																					p.D243Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G727T	3	GRCh37	CM014079	PROS1	M		.						138.0	121.0	127.0					3																	93619648		2203	4300	6503	95102338	SO:0001630	splice_region_variant	5627	exon7				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.727+1G>T	3.37:g.93619648C>A			95102338	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261689	0.39995	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.94828	-3.53;-3.53	4.08	4.08	0.47627	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98040	0.9354	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.99748	1.1017	9	.	.	.	.	16.8099	0.85716	0.0:1.0:0.0:0.0	.	243	P07225	PROS_HUMAN	Y	243;112	ENSP00000377783:D243Y;ENSP00000385794:D112Y	.	D	-	1	0	PROS1	95102338	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	6.014000	0.70784	2.269000	0.75478	0.591000	0.81541	GAT		0.423	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Missense_Mutation
PROS1	5627	broad.mit.edu	37	3	93624637	93624637	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:93624637C>A	ENST00000394236.3	-	6	908	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	PROS1_ENST00000407433.1_Missense_Mutation_p.D67Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	198	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.D198Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTTTACAATCTTTCTTATTT	0.308																																					p.D198Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G592T	3						.						62.0	63.0	62.0					3																	93624637		2203	4295	6498	95107327	SO:0001583	missense	5627	exon6				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.592G>T	3.37:g.93624637C>A	ENSP00000377783:p.Asp198Tyr		95107327	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	8.385	0.838335	0.16891	.	.	ENSG00000184500	ENST00000394236;ENST00000407433;ENST00000348974	D;D;D	0.96365	-3.99;-3.99;-3.99	4.44	4.44	0.53790	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.526359	0.20817	N	0.085131	D	0.94618	0.8265	L	0.29908	0.895	0.41109	D	0.985725	D	0.55385	0.971	P	0.52710	0.707	D	0.94487	0.7698	10	0.72032	D	0.01	.	10.8451	0.46739	0.0:0.9133:0.0:0.0867	.	198	P07225	PROS_HUMAN	Y	198;67;230	ENSP00000377783:D198Y;ENSP00000385794:D67Y;ENSP00000330021:D230Y	ENSP00000330021:D230Y	D	-	1	0	PROS1	95107327	0.999000	0.42202	1.000000	0.80357	0.509000	0.34042	2.588000	0.46137	2.314000	0.78098	0.484000	0.47621	GAT		0.308	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
PROS1	5627	broad.mit.edu	37	3	93624978	93624978	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:93624978T>C	ENST00000394236.3	-	5	672	c.356A>G	c.(355-357)gAc>gGc	p.D119G	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.D119G(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACTACACTGGTCTGGAATGGC	0.358																																					p.D119G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A356G	3						.						102.0	105.0	104.0					3																	93624978		2203	4300	6503	95107668	SO:0001583	missense	5627	exon5				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.356A>G	3.37:g.93624978T>C	ENSP00000377783:p.Asp119Gly		95107668	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747672	0.49257	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.91996	-2.95;-2.21	4.44	4.44	0.53790	Epidermal growth factor-like, type 3 (1);	0.290270	0.36268	N	0.002689	D	0.91267	0.7247	M	0.80508	2.5	0.80722	D	1	P	0.46784	0.884	B	0.38842	0.283	D	0.92586	0.6079	10	0.87932	D	0	.	13.8635	0.63574	0.0:0.0:0.0:1.0	.	119	P07225	PROS_HUMAN	G	119;151	ENSP00000377783:D119G;ENSP00000330021:D151G	ENSP00000330021:D151G	D	-	2	0	PROS1	95107668	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.816000	0.69222	1.876000	0.54355	0.397000	0.26171	GAC		0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
DHFRL1	200895	broad.mit.edu	37	3	93779817	93779817	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:93779817A>C	ENST00000394221.2	-	2	988	c.539T>G	c.(538-540)tTt>tGt	p.F180C	NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Missense_Mutation_p.F180C|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	180	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.F180C(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ACATACTTCAAATTTGTACTT	0.373																																					p.F180C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T539G	3						.						106.0	102.0	103.0					3																	93779817		2203	4300	6503	95262507	SO:0001583	missense	200895	exon2			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.539T>G	3.37:g.93779817A>C	ENSP00000377768:p.Phe180Cys		95262507	NM_001195643	D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.885398	0.33255	.	.	ENSG00000178700	ENST00000314636;ENST00000394221	T;T	0.76578	-1.03;-1.03	1.25	-0.145	0.13436	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.068491	0.64402	U	0.000015	D	0.89298	0.6675	H	0.97635	4.045	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.84779	0.0772	10	0.87932	D	0	-10.2394	4.5235	0.11971	0.7128:0.0:0.0:0.2872	.	180	Q86XF0	DYRL1_HUMAN	C	180	ENSP00000319170:F180C;ENSP00000377768:F180C	ENSP00000319170:F180C	F	-	2	0	DHFRL1	95262507	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	1.500000	0.35682	-0.032000	0.13758	0.369000	0.22263	TTT		0.373	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815	
NSUN3	63899	broad.mit.edu	37	3	93803060	93803060	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:93803060T>A	ENST00000314622.4	+	3	443	c.232T>A	c.(232-234)Tct>Act	p.S78T		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	78							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.S78T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TCACACACTCTCTCAGGGATC	0.423																																					p.S78T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T232A	3						.						80.0	78.0	78.0					3																	93803060		2203	4300	6503	95285750	SO:0001583	missense	63899	exon3			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.232T>A	3.37:g.93803060T>A	ENSP00000318986:p.Ser78Thr		95285750	NM_022072	Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	T	0.063	-1.219297	0.01542	.	.	ENSG00000178694	ENST00000314622	T	0.22743	1.94	5.81	1.69	0.24217	.	0.345124	0.34853	N	0.003639	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.38222	-0.9671	10	0.11794	T	0.64	-9.2137	7.2317	0.26046	0.0:0.1516:0.1255:0.7229	.	78	Q9H649	NSUN3_HUMAN	T	78	ENSP00000318986:S78T	ENSP00000318986:S78T	S	+	1	0	NSUN3	95285750	1.000000	0.71417	0.037000	0.18230	0.012000	0.07955	0.827000	0.27421	0.450000	0.26774	0.533000	0.62120	TCT		0.423	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072	
EPHA6	285220	broad.mit.edu	37	3	97439161	97439161	+	Silent	SNP	C	C	T	rs376416003		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97439161C>T	ENST00000389672.5	+	15	2879	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	853						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.F853F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACAGAAAATTCTCCTCAGCAA	0.458																																					p.F947F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2841T	3						.						87.0	92.0	90.0					3																	97439161		2066	4241	6307	98921851	SO:0001819	synonymous_variant	285220	exon15			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2841C>T	3.37:g.97439161C>T			98921851	NM_001080448	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1																																																																																				0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
OR5H14	403273	broad.mit.edu	37	3	97869038	97869038	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97869038A>G	ENST00000437310.1	+	1	869	c.809A>G	c.(808-810)cAa>cGa	p.Q270R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q270R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGATGACCAAGATATGATG	0.428																																					p.Q270R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A809G	3						.						55.0	52.0	53.0					3																	97869038		2203	4299	6502	99351728	SO:0001583	missense	403273	exon1				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.809A>G	3.37:g.97869038A>G	ENSP00000401706:p.Gln270Arg		99351728	NM_001005514	B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	5.086	0.201522	0.09652	.	.	ENSG00000236032	ENST00000437310	T	0.00152	8.66	2.49	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.314651	0.23043	N	0.052593	T	0.00144	0.0004	L	0.49640	1.575	0.09310	N	1	B	0.20459	0.045	B	0.26614	0.071	T	0.15607	-1.0431	10	0.39692	T	0.17	.	8.4219	0.32705	1.0:0.0:0.0:0.0	.	270	A6NHG9	O5H14_HUMAN	R	270	ENSP00000401706:Q270R	ENSP00000401706:Q270R	Q	+	2	0	OR5H14	99351728	0.000000	0.05858	0.465000	0.27155	0.561000	0.35649	-0.243000	0.08915	1.132000	0.42129	0.164000	0.16699	CAA		0.428	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1		
OR5H15	403274	broad.mit.edu	37	3	97888137	97888137	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97888137G>T	ENST00000356526.2	+	1	594	c.594G>T	c.(592-594)atG>atT	p.M198I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M198I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTTTCTAATGGTTTTTATTT	0.313																																					p.M198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G594T	3						.						28.0	33.0	31.0					3																	97888137		2200	4286	6486	99370827	SO:0001583	missense	403274	exon1				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.594G>T	3.37:g.97888137G>T	ENSP00000373195:p.Met198Ile		99370827	NM_001005515		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	2.222	-0.378115	0.05000	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.36157	1.27	2.48	0.576	0.17380	GPCR, rhodopsin-like superfamily (1);	0.355632	0.24352	N	0.039264	T	0.19485	0.0468	N	0.25286	0.73	0.09310	N	1	B	0.13594	0.008	B	0.20384	0.029	T	0.11372	-1.0590	10	0.35671	T	0.21	.	4.4198	0.11474	0.4896:0.0:0.5104:0.0	.	198	A6NDH6	O5H15_HUMAN	I	198	ENSP00000373195:M198I	ENSP00000373195:M198I	M	+	3	0	OR5H15	99370827	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-2.277000	0.01160	0.372000	0.24591	0.184000	0.17185	ATG		0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1		
OR5H6	79295	broad.mit.edu	37	3	97984096	97984096	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97984096G>A	ENST00000383696.2	+	1	1009	c.968G>A	c.(967-969)aGc>aAc	p.S323N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S323N(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGTTCAAAAGCAATGTTTAG	0.348																																					p.S323N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G968A	3						.						48.0	49.0	49.0					3																	97984096		2161	4268	6429	99466786	SO:0001583	missense	79295	exon1			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.968G>A	3.37:g.97984096G>A	ENSP00000373196:p.Ser323Asn		99466786	NM_001005479	Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	4.099	0.016431	0.07959	.	.	ENSG00000230301	ENST00000383696	T	0.37411	1.2	2.19	1.27	0.21489	.	0.652316	0.13345	N	0.394837	T	0.16557	0.0398	N	0.11364	0.135	0.09310	N	1	B	0.17465	0.022	B	0.22386	0.039	T	0.14282	-1.0478	10	0.36615	T	0.2	.	3.0382	0.06129	0.1839:0.295:0.5211:0.0	.	323	Q8NGV6	OR5H6_HUMAN	N	323	ENSP00000373196:S323N	ENSP00000373196:S323N	S	+	2	0	OR5H6	99466786	0.000000	0.05858	0.899000	0.35326	0.090000	0.18270	-0.122000	0.10627	1.220000	0.43490	0.194000	0.17425	AGC		0.348	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
OR5H2	79310	broad.mit.edu	37	3	98001736	98001736	+	Missense_Mutation	SNP	C	C	T	rs146308829		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98001736C>T	ENST00000355273.2	+	1	5	c.5C>T	c.(4-6)tCg>tTg	p.S2L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S2L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCAGGGATGTCGAATGAGGAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19929	0.0		0.0	False		,,,				2504	0.0				p.S2L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	3						.	C	LEU/SER	6,4400	11.4+/-27.6	0,6,2197	141.0	135.0	137.0		5	-2.5	0.0	3	dbSNP_134	137	2,8598	1.2+/-3.3	0,2,4298	yes	missense	OR5H2	NM_001005482.1	145	0,8,6495	TT,TC,CC		0.0233,0.1362,0.0615	possibly-damaging	2/315	98001736	8,12998	2203	4300	6503	99484426	SO:0001583	missense	79310	exon1				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.5C>T	3.37:g.98001736C>T	ENSP00000347418:p.Ser2Leu		99484426	NM_001005482	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833092	0.16820	0.001362	2.33E-4	ENSG00000197938	ENST00000355273	T	0.00003	9.83	2.64	-2.55	0.06288	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	B	0.35039	0.194	T	0.00934	-1.1509	9	0.35671	T	0.21	.	6.5361	0.22355	0.3434:0.2203:0.4363:0.0	.	2	Q8NGV7	OR5H2_HUMAN	L	2	ENSP00000347418:S2L	ENSP00000347418:S2L	S	+	2	0	OR5H2	99484426	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-0.603000	0.05767	-0.413000	0.06143	TCG		0.398	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
OR5H2	79310	broad.mit.edu	37	3	98002086	98002086	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98002086C>A	ENST00000355273.2	+	1	355	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L119I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAATGTTTTCTCTTGGCAAC	0.363																																					p.L119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C355A	3						.						109.0	104.0	106.0					3																	98002086		2203	4300	6503	99484776	SO:0001583	missense	79310	exon1				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.355C>A	3.37:g.98002086C>A	ENSP00000347418:p.Leu119Ile		99484776	NM_001005482	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204372	0.22205	.	.	ENSG00000197938	ENST00000355273	T	0.12984	2.63	3.2	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35646	U	0.003080	T	0.09686	0.0238	L	0.31845	0.965	0.09310	N	1	P	0.35959	0.53	B	0.36418	0.224	T	0.17471	-1.0368	10	0.52906	T	0.07	.	7.0341	0.24983	0.0:0.7654:0.0:0.2346	.	119	Q8NGV7	OR5H2_HUMAN	I	119	ENSP00000347418:L119I	ENSP00000347418:L119I	L	+	1	0	OR5H2	99484776	0.000000	0.05858	0.043000	0.18650	0.968000	0.65278	-0.177000	0.09796	0.198000	0.20407	0.543000	0.68304	CTC		0.363	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
OR5K3	403277	broad.mit.edu	37	3	98109641	98109641	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98109641T>C	ENST00000383695.1	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	44			G -> D (in dbSNP:rs13068323).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G44G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						GGAACATTGGTTTGGTGGCAT	0.408																																					p.G44G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T132C	3						.						278.0	258.0	265.0					3																	98109641		2203	4300	6503	99592331	SO:0001819	synonymous_variant	403277	exon1				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.132T>C	3.37:g.98109641T>C			99592331	NM_001005516		Silent	SNP	ENST00000383695.1	37	CCDS33803.1																																																																																				0.408	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
OR5K3	403277	broad.mit.edu	37	3	98109819	98109819	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98109819C>A	ENST00000383695.1	+	1	310	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L104I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTTTATTTTCTCTGTCTTGC	0.438																																					p.L104I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C310A	3						.						219.0	216.0	217.0					3																	98109819		2203	4300	6503	99592509	SO:0001583	missense	403277	exon1				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.310C>A	3.37:g.98109819C>A	ENSP00000373194:p.Leu104Ile		99592509	NM_001005516		Missense_Mutation	SNP	ENST00000383695.1	37	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894127	0.52121	.	.	ENSG00000206536	ENST00000383695	T	0.00381	7.63	5.15	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.179440	0.27035	N	0.021245	T	0.00300	0.0009	L	0.31526	0.94	0.22199	N	0.999292	P	0.41643	0.758	P	0.45660	0.489	T	0.51787	-0.8661	10	0.72032	D	0.01	-14.537	8.8562	0.35229	0.0:0.6729:0.0:0.3271	.	104	A6NET4	OR5K3_HUMAN	I	104	ENSP00000373194:L104I	ENSP00000373194:L104I	L	+	1	0	OR5K3	99592509	0.000000	0.05858	0.999000	0.59377	0.930000	0.56654	-1.118000	0.03280	0.171000	0.19730	0.603000	0.83216	CTC		0.438	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
OR5K1	26339	broad.mit.edu	37	3	98188632	98188632	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98188632C>T	ENST00000332650.5	+	1	309	c.212C>T	c.(211-213)tCt>tTt	p.S71F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S71F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGTGGATTCTTGCTGTGCC	0.418																																					p.S71F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C212T	3						.						157.0	169.0	165.0					3																	98188632		2203	4296	6499	99671322	SO:0001583	missense	26339	exon1			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.212C>T	3.37:g.98188632C>T	ENSP00000373193:p.Ser71Phe		99671322	NM_001004736	B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	1.527	-0.545244	0.04024	.	.	ENSG00000232382	ENST00000332650	T	0.01918	4.56	5.18	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.175802	0.27627	N	0.018528	T	0.00967	0.0032	N	0.01751	-0.74	0.09310	N	1	B	0.26775	0.159	B	0.30105	0.111	T	0.49934	-0.8886	10	0.12103	T	0.63	-19.0	6.3387	0.21310	0.0:0.7149:0.0:0.2851	.	71	Q8NHB7	OR5K1_HUMAN	F	71	ENSP00000373193:S71F	ENSP00000373193:S71F	S	+	2	0	OR5K1	99671322	0.301000	0.24444	0.102000	0.21198	0.080000	0.17528	3.616000	0.54174	1.186000	0.42985	-0.251000	0.11542	TCT		0.418	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	rs199803370		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98188932C>T	ENST00000332650.5	+	1	609	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S171L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398																																					p.S171L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	3						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	249.0	250.0	250.0		512	4.5	0.0	3		250	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR5K1	NM_001004736.2	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	171/309	98188932	2,13004	2203	4300	6503	99671622	SO:0001583	missense	26339	exon1			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.512C>T	3.37:g.98188932C>T	ENSP00000373193:p.Ser171Leu		99671622	NM_001004736	B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904258	0.33628	2.27E-4	1.16E-4	ENSG00000232382	ENST00000332650	T	0.38560	1.13	5.33	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.174299	0.27725	N	0.018113	T	0.58090	0.2098	M	0.78801	2.425	0.09310	N	1	D	0.56287	0.975	P	0.56612	0.802	T	0.55302	-0.8162	10	0.66056	D	0.02	-13.0723	11.7681	0.51943	0.0:0.9138:0.0:0.0862	.	171	Q8NHB7	OR5K1_HUMAN	L	171	ENSP00000373193:S171L	ENSP00000373193:S171L	S	+	2	0	OR5K1	99671622	0.000000	0.05858	0.043000	0.18650	0.066000	0.16364	0.199000	0.17237	1.247000	0.43917	-0.253000	0.11424	TCG		0.398	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
CLDND1	56650	broad.mit.edu	37	3	98240148	98240148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98240148C>A	ENST00000503004.1	-	2	1000	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394185.2_Nonsense_Mutation_p.E41*|CLDND1_ENST00000394180.2_Nonsense_Mutation_p.E41*|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000510545.1_Nonsense_Mutation_p.E41*|CLDND1_ENST00000437922.1_Nonsense_Mutation_p.E64*|CLDND1_ENST00000394181.2_Nonsense_Mutation_p.E41*|CLDND1_ENST00000513287.1_Nonsense_Mutation_p.E41*|CLDND1_ENST00000341181.6_Nonsense_Mutation_p.E41*|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000507874.1_Nonsense_Mutation_p.E41*			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	41						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E41*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CTGGAATTTTCTTGAACTGGA	0.393																																					p.E41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G121T	3						.						89.0	85.0	87.0					3																	98240148		2203	4300	6503	99722838	SO:0001587	stop_gained	56650	exon3			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.121G>T	3.37:g.98240148C>A	ENSP00000421226:p.Glu41*		99722838	NM_019895	B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Nonsense_Mutation	SNP	ENST00000503004.1	37	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341274	0.97489	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	.	.	.	5.25	4.36	0.52297	.	0.368896	0.29424	N	0.012187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-15.5785	12.9231	0.58243	0.1636:0.8364:0.0:0.0	.	.	.	.	X	41;41;64;41;41;41;41;41;41;19;41;41;41;41;41;41;41;19;41;41;41	.	ENSP00000340247:E41X	E	-	1	0	CLDND1	99722838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.969000	0.63735	1.181000	0.42912	0.655000	0.94253	GAA		0.393	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895	
ST3GAL6	10402	broad.mit.edu	37	3	98506953	98506953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98506953G>T	ENST00000483910.1	+	7	794	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	ST3GAL6_ENST00000265261.6_Nonsense_Mutation_p.E51*|ST3GAL6_ENST00000394162.1_Nonsense_Mutation_p.E169*|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	169					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.E169*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TTTTTATCCAGAATCTGTTTT	0.368																																					p.E169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G505T	3						.						98.0	96.0	97.0					3																	98506953		2203	4300	6503	99989643	SO:0001587	stop_gained	10402	exon8			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.505G>T	3.37:g.98506953G>T	ENSP00000417376:p.Glu169*		99989643	NM_006100	B2RCH2|B3KMI1|D3DN39|F8W6U0	Nonsense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291990	0.80914	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2332	17.2504	0.87041	0.0:0.0:1.0:0.0	.	.	.	.	X	169;51;137;169;169;137;192;83	.	ENSP00000265261:E51X	E	+	1	0	ST3GAL6	99989643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.744000	0.74854	2.671000	0.90904	0.563000	0.77884	GAA		0.368	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
ST3GAL6	10402	broad.mit.edu	37	3	98507177	98507177	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98507177A>C	ENST00000483910.1	+	8	915	c.626A>C	c.(625-627)aAt>aCt	p.N209T	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.N91T|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.N209T|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	209					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.N209T(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAACACTAATGGTTTTTGG	0.323																																					p.N209T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A626C	3						.						81.0	88.0	86.0					3																	98507177		2202	4300	6502	99989867	SO:0001583	missense	10402	exon9			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.626A>C	3.37:g.98507177A>C	ENSP00000417376:p.Asn209Thr		99989867	NM_006100	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584125	0.28268	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.84	2.52	0.30459	.	0.989608	0.08238	N	0.976471	T	0.17365	0.0417	N	0.17312	0.475	0.21445	N	0.999684	B;B;B	0.24483	0.104;0.007;0.011	B;B;B	0.25614	0.062;0.039;0.014	T	0.30387	-0.9980	10	0.09590	T	0.72	-35.7446	7.4745	0.27368	0.8162:0.0:0.1838:0.0	.	232;91;209	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	T	209;91;209;209;177;232;123	ENSP00000417376:N209T;ENSP00000265261:N91T;ENSP00000418896:N209T;ENSP00000377717:N209T;ENSP00000418650:N177T;ENSP00000417201:N232T;ENSP00000419202:N123T	ENSP00000265261:N91T	N	+	2	0	ST3GAL6	99989867	0.007000	0.16637	0.915000	0.36163	0.994000	0.84299	1.226000	0.32563	0.987000	0.38709	0.460000	0.39030	AAT		0.323	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
ST3GAL6	10402	broad.mit.edu	37	3	98512582	98512582	+	Missense_Mutation	SNP	G	G	T	rs139832763		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:98512582G>T	ENST00000483910.1	+	10	1262	c.973G>T	c.(973-975)Gta>Tta	p.V325L	ST3GAL6_ENST00000265261.6_Missense_Mutation_p.V207L|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.V325L|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	325					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.V325L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						AAAAAACCTCGTAATCAACTT	0.333																																					p.V325L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973T	3						.						96.0	100.0	99.0					3																	98512582		2203	4300	6503	99995272	SO:0001583	missense	10402	exon11			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.973G>T	3.37:g.98512582G>T	ENSP00000417376:p.Val325Leu		99995272	NM_006100	B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102413	0.56183	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000394162	T;T;T	0.27402	1.67;1.67;1.67	5.93	5.93	0.95920	.	0.101468	0.42682	D	0.000676	T	0.33294	0.0858	M	0.63428	1.95	0.41558	D	0.988616	B;B	0.32031	0.2;0.352	B;B	0.33521	0.108;0.165	T	0.17653	-1.0362	10	0.72032	D	0.01	-5.9043	11.1446	0.48424	0.083:0.0:0.917:0.0	.	207;325	F8W6U0;Q9Y274	.;SIA10_HUMAN	L	325;207;325	ENSP00000417376:V325L;ENSP00000265261:V207L;ENSP00000377717:V325L	ENSP00000265261:V207L	V	+	1	0	ST3GAL6	99995272	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.339000	0.52135	2.814000	0.96858	0.563000	0.77884	GTA		0.333	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
LMLN	89782	broad.mit.edu	37	3	197723056	197723056	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:197723056G>A	ENST00000330198.4	+	10	1080	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	LMLN_ENST00000482695.1_Missense_Mutation_p.R301Q|RNU6-621P_ENST00000364752.1_RNA|LMLN_ENST00000420910.2_Missense_Mutation_p.R353Q|LMLN_ENST00000332636.5_Missense_Mutation_p.R301Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	353					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R353Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAGGAAGCACGAAAACATTTT	0.363																																					p.R353Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	3						.						94.0	89.0	91.0					3																	197723056		2203	4300	6503	199207453	SO:0001583	missense	89782	exon10			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1058G>A	3.37:g.197723056G>A	ENSP00000328829:p.Arg353Gln		199207453	NM_033029	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694473	0.88830	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.87	4.87	0.63330	.	0.146929	0.42420	D	0.000711	T	0.64416	0.2596	L	0.42581	1.335	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.986;0.99;1.0;0.998;0.987	P;P;D;D;P	0.74674	0.792;0.779;0.984;0.937;0.627	T	0.63305	-0.6667	10	0.44086	T	0.13	-6.58	15.5925	0.76543	0.0:0.0:1.0:0.0	.	353;301;353;345;301	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	Q	301;353;353;301	ENSP00000418324:R301Q;ENSP00000328829:R353Q;ENSP00000410926:R353Q;ENSP00000328611:R301Q	ENSP00000328829:R353Q	R	+	2	0	LMLN	199207453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.043000	0.71004	2.533000	0.85409	0.543000	0.68304	CGA		0.363	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	
ANO4	121601	broad.mit.edu	37	12	101490408	101490408	+	Silent	SNP	C	C	T	rs200172974		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101490408C>T	ENST00000392977.3	+	19	2043	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ANO4_ENST00000392979.3_Silent_p.I576I|ANO4_ENST00000550015.1_Silent_p.I131I|ANO4_ENST00000299222.9_Silent_p.I131I			Q32M45	ANO4_HUMAN	anoctamin 4	611					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.I576I(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATTTTACATCGCATTCTTCC	0.502										HNSCC(74;0.22)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0				p.I576I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1728T	12						.						120.0	108.0	112.0					12																	101490408		2203	4300	6503	100014539	SO:0001819	synonymous_variant	121601	exon18			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1833C>T	12.37:g.101490408C>T			100014539	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37																																																																																					0.502	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
SLC5A8	160728	broad.mit.edu	37	12	101552062	101552062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101552062C>A	ENST00000536262.2	-	14	2233	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.E559*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAAGTCCTCTTTGGTTAGT	0.343																																					p.E559X	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1675T	12						.						134.0	163.0	153.0					12																	101552062		2202	4299	6501	100076193	SO:0001587	stop_gained	160728	exon14			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1675G>T	12.37:g.101552062C>A	ENSP00000445340:p.Glu559*		100076193	NM_145913		Nonsense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	42	9.767185	0.99259	.	.	ENSG00000256870	ENST00000536262	.	.	.	5.66	3.78	0.43462	.	0.300312	0.30649	N	0.009175	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	14.8271	0.70122	0.0:0.575:0.4249:0.0	.	.	.	.	X	559	.	ENSP00000445340:E559X	E	-	1	0	SLC5A8	100076193	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.923000	0.48868	0.693000	0.31634	0.555000	0.69702	GAG		0.343	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
SLC5A8	160728	broad.mit.edu	37	12	101555773	101555773	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101555773T>G	ENST00000536262.2	-	13	2167	c.1609A>C	c.(1609-1611)Ata>Cta	p.I537L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.I537L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGACAAGTATCCCCACTAAT	0.323																																					p.I537L	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1609C	12						.						174.0	179.0	178.0					12																	101555773		2203	4300	6503	100079904	SO:0001583	missense	160728	exon13			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1609A>C	12.37:g.101555773T>G	ENSP00000445340:p.Ile537Leu		100079904	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	T	0.298	-0.975615	0.02215	.	.	ENSG00000256870	ENST00000536262	T	0.60171	0.21	5.5	3.04	0.35103	.	0.633297	0.17747	N	0.163380	T	0.28962	0.0719	N	0.13198	0.31	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.02654	T	1	.	4.1279	0.10136	0.1566:0.1562:0.0:0.6871	.	537	Q8N695	SC5A8_HUMAN	L	537	ENSP00000445340:I537L	ENSP00000445340:I537L	I	-	1	0	SLC5A8	100079904	0.119000	0.22226	0.833000	0.33012	0.419000	0.31324	0.765000	0.26546	2.098000	0.63641	0.477000	0.44152	ATA		0.323	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
SLC5A8	160728	broad.mit.edu	37	12	101577979	101577979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101577979C>T	ENST00000536262.2	-	8	1543	c.985G>A	c.(985-987)Gac>Aac	p.D329N		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.D329N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAGAATGTCCAGTACCAAA	0.348																																					p.D329N	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	12						.						71.0	69.0	69.0					12																	101577979		2203	4300	6503	100102110	SO:0001583	missense	160728	exon8			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.985G>A	12.37:g.101577979C>T	ENSP00000445340:p.Asp329Asn		100102110	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516742	0.96402	.	.	ENSG00000256870	ENST00000536262	D	0.87650	-2.28	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	M	0.63843	1.955	0.80722	D	1	P	0.44344	0.833	P	0.49085	0.6	D	0.89899	0.4043	10	0.54805	T	0.06	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	329	Q8N695	SC5A8_HUMAN	N	329	ENSP00000445340:D329N	ENSP00000445340:D329N	D	-	1	0	SLC5A8	100102110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.806000	0.86020	2.676000	0.91093	0.655000	0.94253	GAC		0.348	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
SLC5A8	160728	broad.mit.edu	37	12	101598313	101598313	+	Missense_Mutation	SNP	G	G	A	rs555404331	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101598313G>A	ENST00000536262.2	-	2	940	c.382C>T	c.(382-384)Cgt>Tgt	p.R128C		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.R128C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACAGAGACGAACACATTTG	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		17203	0.002		0.0	False		,,,				2504	0.0				p.R128C	GBM(60;420 1056 13605 22380 47675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382T	12						.						62.0	62.0	62.0					12																	101598313		2203	4300	6503	100122444	SO:0001583	missense	160728	exon2			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.382C>T	12.37:g.101598313G>A	ENSP00000445340:p.Arg128Cys		100122444	NM_145913		Missense_Mutation	SNP	ENST00000536262.2	37	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392976	0.83011	.	.	ENSG00000256870	ENST00000536262	D	0.88975	-2.45	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94404	0.8200	H	0.97186	3.955	0.80722	D	1	P	0.47253	0.892	P	0.44990	0.466	D	0.95881	0.8899	10	0.87932	D	0	.	19.7423	0.96237	0.0:0.0:1.0:0.0	.	128	Q8N695	SC5A8_HUMAN	C	128	ENSP00000445340:R128C	ENSP00000445340:R128C	R	-	1	0	SLC5A8	100122444	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.894000	0.87336	2.676000	0.91093	0.555000	0.69702	CGT		0.333	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913	
UTP20	27340	broad.mit.edu	37	12	101702017	101702017	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101702017C>T	ENST00000261637.4	+	18	2224	c.2050C>T	c.(2050-2052)Ctt>Ttt	p.L684F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	684					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L684F(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCAGGCAGAACTTGTTCCAGC	0.443																																					p.L684F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2050T	12						.						102.0	100.0	101.0					12																	101702017		2203	4300	6503	100226148	SO:0001583	missense	27340	exon18			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2050C>T	12.37:g.101702017C>T	ENSP00000261637:p.Leu684Phe		100226148	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665668	0.88251	.	.	ENSG00000120800	ENST00000261637	T	0.18502	2.21	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.17048	-1.0382	10	0.59425	D	0.04	-16.5707	20.2985	0.98592	0.0:1.0:0.0:0.0	.	684	O75691	UTP20_HUMAN	F	684	ENSP00000261637:L684F	ENSP00000261637:L684F	L	+	1	0	UTP20	100226148	1.000000	0.71417	0.977000	0.42913	0.928000	0.56348	4.938000	0.63519	2.793000	0.96121	0.655000	0.94253	CTT		0.443	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101728223	101728223	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101728223G>T	ENST00000261637.4	+	29	3756	c.3582G>T	c.(3580-3582)gaG>gaT	p.E1194D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1194					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E1194D(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGGATCTGAGAGTCAATATT	0.358																																					p.E1194D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3582T	12						.						89.0	78.0	82.0					12																	101728223		2203	4300	6503	100252354	SO:0001583	missense	27340	exon29			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3582G>T	12.37:g.101728223G>T	ENSP00000261637:p.Glu1194Asp		100252354	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907314	0.72868	.	.	ENSG00000120800	ENST00000261637	T	0.39056	1.1	5.62	2.84	0.33178	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.66939	2.045	0.49483	D	0.999791	D	0.76494	0.999	D	0.77004	0.989	T	0.52373	-0.8584	10	0.45353	T	0.12	-22.4177	8.6484	0.34020	0.3532:0.0:0.6468:0.0	.	1194	O75691	UTP20_HUMAN	D	1194	ENSP00000261637:E1194D	ENSP00000261637:E1194D	E	+	3	2	UTP20	100252354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.350000	0.44063	0.336000	0.23639	0.650000	0.86243	GAG		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101736730	101736730	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101736730C>T	ENST00000261637.4	+	35	4482	c.4308C>T	c.(4306-4308)ttC>ttT	p.F1436F		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1436					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.F1436F(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTAACGCCTTCGATCAAAGAC	0.328																																					p.F1436F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4308T	12						.						110.0	107.0	108.0					12																	101736730		2203	4300	6503	100260861	SO:0001819	synonymous_variant	27340	exon35			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4308C>T	12.37:g.101736730C>T			100260861	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				0.328	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101773211	101773211	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101773211T>G	ENST00000261637.4	+	57	7633	c.7459T>G	c.(7459-7461)Ttt>Gtt	p.F2487V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2487					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.F2487V(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGCCCAGATTTTTGGATTACT	0.453																																					p.F2487V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7459G	12						.						86.0	85.0	85.0					12																	101773211		2203	4300	6503	100297342	SO:0001583	missense	27340	exon57			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7459T>G	12.37:g.101773211T>G	ENSP00000261637:p.Phe2487Val		100297342	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601325	0.87055	.	.	ENSG00000120800	ENST00000261637	T	0.04970	3.52	6.04	6.04	0.98038	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	M	0.64404	1.975	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.09618	-1.0666	10	0.07175	T	0.84	-27.324	16.5757	0.84637	0.0:0.0:0.0:1.0	.	2487	O75691	UTP20_HUMAN	V	2487	ENSP00000261637:F2487V	ENSP00000261637:F2487V	F	+	1	0	UTP20	100297342	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.600000	0.67599	2.317000	0.78254	0.523000	0.50628	TTT		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
ARL1	400	broad.mit.edu	37	12	101796696	101796696	+	Silent	SNP	C	C	T	rs375724509		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101796696C>T	ENST00000261636.8	-	3	345	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000536227.1_Silent_p.T40T|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Silent_p.T40T|ARL1_ENST00000551671.1_Silent_p.T57T|ARL1_ENST00000539055.1_Silent_p.T11T	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	57					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358																																					p.T57T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G171A	12						.	C		1,3651		0,1,1825	139.0	131.0	134.0		171	0.1	1.0	12		134	0,8172		0,0,4086	no	coding-synonymous	ARL1	NM_001177.4		0,1,5911	TT,TC,CC		0.0,0.0274,0.0085		57/182	101796696	1,11823	1826	4086	5912	100320827	SO:0001819	synonymous_variant	400	exon3			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.171G>A	12.37:g.101796696C>T			100320827	NM_001177	B4DWW1|P80417|Q53XB1	Silent	SNP	ENST00000261636.8	37	CCDS44958.1																																																																																				0.358	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177	
CLEC1B	51266	broad.mit.edu	37	12	10145858	10145858	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10145858T>G	ENST00000298527.6	-	6	753	c.574A>C	c.(574-576)Aat>Cat	p.N192H	CLEC1B_ENST00000428126.2_Missense_Mutation_p.N159H|CLEC1B_ENST00000348658.4_Missense_Mutation_p.N159H	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	192	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.N101H(1)|p.N192H(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CAATTCATATTTCCTTTTCCA	0.368																																					p.N159H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A475C	12						.						100.0	91.0	94.0					12																	10145858		1848	4086	5934	10037125	SO:0001583	missense	51266	exon5			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.574A>C	12.37:g.10145858T>G	ENSP00000298527:p.Asn192His		10037125	NM_001099431	Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998903	0.35226	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	T;T;T	0.19105	2.17;2.17;2.17	4.17	2.8	0.32819	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289707	0.25241	N	0.032087	T	0.40645	0.1125	M	0.81497	2.545	0.31529	N	0.661413	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.47005	-0.9150	10	0.62326	D	0.03	.	4.2016	0.10469	0.0:0.2072:0.0:0.7928	.	159;192	Q9P126-2;Q9P126	.;CLC1B_HUMAN	H	159;192;159;101	ENSP00000406338:N159H;ENSP00000298527:N192H;ENSP00000327169:N159H	ENSP00000298527:N192H	N	-	1	0	CLEC1B	10037125	0.954000	0.32549	0.999000	0.59377	0.295000	0.27426	0.788000	0.26872	1.633000	0.50488	0.402000	0.26972	AAT		0.368	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509	
CLEC1B	51266	broad.mit.edu	37	12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10147815G>A	ENST00000298527.6	-	5	648	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R124C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R157C(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418																																					p.R124C												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(2)	c.C370T	12						.						258.0	248.0	251.0					12																	10147815		1853	4089	5942	10039082	SO:0001583	missense	51266	exon4			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.469C>T	12.37:g.10147815G>A	ENSP00000298527:p.Arg157Cys		10039082	NM_001099431	Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.072111|3.072111	0.55646|0.55646	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000398939|ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658	.|T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22	3.83|3.83	3.83|3.83	0.44106|0.44106	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.48767	.|D	.|0.000165	.|T	.|0.37433	.|0.1003	M|M	0.69823|0.69823	2.125|2.125	0.50632|0.50632	D|D	0.999883|0.999883	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.08953	.|-1.0697	.|10	.|0.40728	.|T	.|0.16	.|.	11.1397|11.1397	0.48396|0.48396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;157	.|Q9P126-2;Q9P126	.|.;CLC1B_HUMAN	.|C	-1|64;124;157;124	.|ENSP00000381910:R64C;ENSP00000406338:R124C;ENSP00000298527:R157C;ENSP00000327169:R124C	.|ENSP00000298527:R157C	.|R	-|-	.|1	.|0	CLEC1B|CLEC1B	10039082|10039082	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.644000|0.644000	0.38419|0.38419	4.365000|4.365000	0.59486|0.59486	1.954000|1.954000	0.56735|0.56735	0.298000|0.298000	0.19748|0.19748	.|CGT		0.418	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509	
ARL1	400	broad.mit.edu	37	12	101799708	101799708	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:101799708C>T	ENST00000261636.8	-	2	230	c.56G>A	c.(55-57)aGa>aAa	p.R19K	RP11-321F8.4_ENST00000547360.1_lincRNA|ARL1_ENST00000549302.1_5'UTR|ARL1_ENST00000536227.1_Missense_Mutation_p.R2K|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.R2K|ARL1_ENST00000551671.1_Missense_Mutation_p.R19K|ARL1_ENST00000539055.1_Intron	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	19					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.R19K(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		AATTAAAATTCTCATTTCCCG	0.318																																					p.R19K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G56A	12						.						63.0	53.0	56.0					12																	101799708		1806	4059	5865	100323839	SO:0001583	missense	400	exon2			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.56G>A	12.37:g.101799708C>T	ENSP00000261636:p.Arg19Lys		100323839	NM_001177	B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	C	36	5.730942	0.96856	.	.	ENSG00000120805	ENST00000261636;ENST00000536227;ENST00000551828;ENST00000551671;ENST00000548070	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.79	5.79	0.91817	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89792	0.3969	10	0.87932	D	0	-17.8979	20.0946	0.97833	0.0:1.0:0.0:0.0	.	19;19	F8VYN9;P40616	.;ARL1_HUMAN	K	19;2;2;19;2	ENSP00000261636:R19K;ENSP00000441808:R2K;ENSP00000448850:R2K;ENSP00000448912:R19K;ENSP00000450315:R2K	ENSP00000261636:R19K	R	-	2	0	ARL1	100323839	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.711000	0.84669	2.761000	0.94854	0.644000	0.83932	AGA		0.318	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177	
MYBPC1	4604	broad.mit.edu	37	12	102061599	102061599	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102061599C>T	ENST00000550270.1	+	22	2425	c.2425C>T	c.(2425-2427)Cgt>Tgt	p.R809C	MYBPC1_ENST00000549145.1_Missense_Mutation_p.R822C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R772C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R777C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R765C|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R779C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R692C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R809C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R809C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R778C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R791C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R791C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R809C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	809	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R816C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCTTTGTGCGTGTGAAGGC	0.468																																					p.R816C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2446T	12						.						107.0	91.0	96.0					12																	102061599		2203	4300	6503	100585730	SO:0001583	missense	4604	exon23				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2425C>T	12.37:g.102061599C>T	ENSP00000449702:p.Arg809Cys		100585730	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412318	0.62511	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.73	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000172	T	0.76637	0.4015	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.932;0.999;1.0;0.999;1.0;0.978;0.999	T	0.79783	-0.1658	10	0.87932	D	0	.	13.4713	0.61283	0.266:0.734:0.0:0.0	.	772;779;809;791;778;765;791;809;816;816	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	C	765;809;809;809;778;777;816;822;791;791;772;779;816;692;809	ENSP00000448175:R765C;ENSP00000400908:R809C;ENSP00000388989:R809C;ENSP00000353822:R809C;ENSP00000376665:R778C;ENSP00000447362:R777C;ENSP00000354845:R816C;ENSP00000447660:R822C;ENSP00000447900:R791C;ENSP00000440034:R791C;ENSP00000446128:R772C;ENSP00000442847:R779C;ENSP00000354849:R816C;ENSP00000447116:R692C;ENSP00000449702:R809C	ENSP00000353822:R809C	R	+	1	0	MYBPC1	100585730	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	3.046000	0.49846	2.699000	0.92147	0.650000	0.86243	CGT		0.468	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
CHPT1	56994	broad.mit.edu	37	12	102120171	102120171	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102120171G>A	ENST00000229266.3	+	8	1400	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	CHPT1_ENST00000549872.1_Missense_Mutation_p.A389T	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	389					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)	p.A389T(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ATGTCATCAAGCACCTGAACA	0.398																																					p.A389T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165A	12						.						108.0	104.0	106.0					12																	102120171		2203	4300	6503	100644302	SO:0001583	missense	56994	exon8				CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.1165G>A	12.37:g.102120171G>A	ENSP00000229266:p.Ala389Thr		100644302	NM_020244	B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679262	0.68042	.	.	ENSG00000111666	ENST00000229266;ENST00000549872;ENST00000543999	T;T	0.46819	0.94;0.86	6.17	5.29	0.74685	.	0.287809	0.38720	N	0.001589	T	0.43344	0.1243	L	0.44542	1.39	0.42529	D	0.993034	B;B	0.23990	0.095;0.026	B;B	0.25884	0.064;0.035	T	0.29822	-0.9999	10	0.39692	T	0.17	-1.0466	15.7563	0.78030	0.065:0.0:0.935:0.0	.	389;389	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	T	389;389;222	ENSP00000229266:A389T;ENSP00000448766:A389T	ENSP00000229266:A389T	A	+	1	0	CHPT1	100644302	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.700000	0.68318	1.626000	0.50381	0.655000	0.94253	GCA		0.398	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244	
ERC1	23085	broad.mit.edu	37	12	1137559	1137559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:1137559G>T	ENST00000397203.2	+	2	896	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	ERC1_ENST00000546231.2_Nonsense_Mutation_p.E164*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E164*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E164*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E164*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E164*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	164					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.E164*(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGTATTAAGAGAAAATGATCT	0.463																																					p.E164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G490T	12						.						115.0	107.0	109.0					12																	1137559		2203	4300	6503	1007820	SO:0001587	stop_gained	23085	exon2			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.490G>T	12.37:g.1137559G>T	ENSP00000380386:p.Glu164*		1007820	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	36	5.730181	0.96856	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-22.055	19.7395	0.96220	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000299183:E164X	E	+	1	0	ERC1	1007820	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	8.207000	0.89746	2.669000	0.90835	0.655000	0.94253	GAA		0.463	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
GNPTAB	79158	broad.mit.edu	37	12	102159074	102159074	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102159074G>T	ENST00000299314.7	-	13	1883	c.1621C>A	c.(1621-1623)Cat>Aat	p.H541N	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	541					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.H541N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TACAATTCATGAAAATGATCT	0.338																																					p.H541N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1621A	12						.						59.0	61.0	60.0					12																	102159074		2202	4300	6502	100683205	SO:0001583	missense	79158	exon13			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1621C>A	12.37:g.102159074G>T	ENSP00000299314:p.His541Asn		100683205	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661235	0.14645	.	.	ENSG00000111670	ENST00000299314	D	0.95821	-3.82	5.96	5.06	0.68205	Notch domain (1);	0.430200	0.27600	N	0.018648	D	0.88055	0.6334	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.82493	-0.0430	10	0.07482	T	0.82	-26.237	13.4043	0.60903	0.0:0.3714:0.6286:0.0	.	541	Q3T906	GNPTA_HUMAN	N	541	ENSP00000299314:H541N	ENSP00000299314:H541N	H	-	1	0	GNPTAB	100683205	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.662000	0.46766	2.832000	0.97577	0.655000	0.94253	CAT		0.338	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
CCDC53	51019	broad.mit.edu	37	12	102439876	102439876	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102439876G>A	ENST00000240079.6	-	3	333	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	CCDC53_ENST00000545679.1_Missense_Mutation_p.R58C|CCDC53_ENST00000539515.1_5'UTR	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	58						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)		p.R58C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294																																					p.R58C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	12						.						47.0	43.0	44.0					12																	102439876		1796	4062	5858	100964006	SO:0001583	missense	51019	exon3			AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.172C>T	12.37:g.102439876G>A	ENSP00000240079:p.Arg58Cys		100964006	NM_016053	B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323109	0.81580	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	M	0.87547	2.89	0.80722	D	1	P;D	0.54207	0.836;0.965	B;B	0.43194	0.212;0.411	T	0.76828	-0.2815	9	0.52906	T	0.07	-11.4463	16.3866	0.83507	0.0:0.0:1.0:0.0	.	58;58	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	C	58;58;8	.	ENSP00000240079:R58C	R	-	1	0	CCDC53	100964006	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.063000	0.64332	2.659000	0.90383	0.655000	0.94253	CGT		0.294	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053	
CLEC1A	51267	broad.mit.edu	37	12	10228193	10228193	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10228193G>T	ENST00000315330.4	-	4	515	c.453C>A	c.(451-453)ttC>ttA	p.F151L	CLEC1A_ENST00000457018.2_Missense_Mutation_p.F118L|CLEC1A_ENST00000420265.2_Missense_Mutation_p.F59L	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	151	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.F151L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TGTCTTTATAGAACTGGTAGC	0.383																																					p.F151L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C453A	12						.						139.0	133.0	135.0					12																	10228193		2203	4300	6503	10119460	SO:0001583	missense	51267	exon4			AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.453C>A	12.37:g.10228193G>T	ENSP00000326407:p.Phe151Leu		10119460	NM_016511	Q8IUW7|Q9NZH3	Missense_Mutation	SNP	ENST00000315330.4	37	CCDS8612.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789295	0.70337	.	.	ENSG00000150048	ENST00000315330;ENST00000457018;ENST00000420265	T;T;T	0.19394	2.15;2.15;2.15	5.06	2.21	0.28008	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000017	T	0.34019	0.0883	L	0.58428	1.81	0.30502	N	0.770263	B;D;P	0.63880	0.296;0.993;0.869	B;D;P	0.68192	0.097;0.956;0.751	T	0.14980	-1.0453	10	0.41790	T	0.15	.	6.3919	0.21591	0.3012:0.0:0.6988:0.0	.	59;118;151	E7ESV9;E9PFB4;Q8NC01	.;.;CLC1A_HUMAN	L	151;118;59	ENSP00000326407:F151L;ENSP00000415048:F118L;ENSP00000417010:F59L	ENSP00000326407:F151L	F	-	3	2	CLEC1A	10119460	0.929000	0.31497	0.929000	0.37066	0.954000	0.61252	0.534000	0.23098	0.654000	0.30846	0.655000	0.94253	TTC		0.383	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
PARPBP	55010	broad.mit.edu	37	12	102558231	102558231	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102558231A>C	ENST00000358383.5	+	5	556	c.511A>C	c.(511-513)Agg>Cgg	p.R171R	PARPBP_ENST00000541394.1_Silent_p.R248R|PARPBP_ENST00000392911.2_Silent_p.R90R|PARPBP_ENST00000543784.1_Silent_p.R57R|PARPBP_ENST00000378128.3_Silent_p.R171R|PARPBP_ENST00000327680.2_Silent_p.R90R|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	171					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R90R(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						GCTGCTAGCAAGGAAAATTAT	0.318																																					p.R171R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A511C	12						.						65.0	72.0	69.0					12																	102558231		2202	4300	6502	101082361	SO:0001819	synonymous_variant	55010	exon5			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.511A>C	12.37:g.102558231A>C			101082361	NM_017915	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	CCDS9090.2																																																																																				0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	
CLEC7A	64581	broad.mit.edu	37	12	10282677	10282677	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10282677T>G	ENST00000304084.8	-	1	159	c.5A>C	c.(4-6)gAa>gCa	p.E2A	CLEC7A_ENST00000525605.1_Missense_Mutation_p.E2A|CLEC7A_ENST00000396484.2_Missense_Mutation_p.E2A|CLEC7A_ENST00000310002.4_Missense_Mutation_p.E2A|CLEC7A_ENST00000298523.5_Missense_Mutation_p.E2A|CLEC7A_ENST00000533022.1_Missense_Mutation_p.E2A|CLEC7A_ENST00000353231.5_Missense_Mutation_p.E2A	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	2					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)	p.E2A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGGATGATATTCCATTGTTCT	0.393																																					p.E2A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5C	12						.						93.0	85.0	88.0					12																	10282677		2201	4300	6501	10173944	SO:0001583	missense	64581	exon1			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.5A>C	12.37:g.10282677T>G	ENSP00000302569:p.Glu2Ala		10173944	NM_022570	B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	T	8.578	0.881540	0.17467	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022;ENST00000310002;ENST00000525605	T;T;T;T;T	0.08458	4.84;3.23;4.72;3.09;3.09	4.24	3.07	0.35406	.	0.589948	0.15319	N	0.268640	T	0.08447	0.0210	L	0.42245	1.32	0.19945	N	0.999948	B;B;B;B;B;B;B;B	0.19073	0.033;0.027;0.011;0.019;0.014;0.011;0.002;0.001	B;B;B;B;B;B;B;B	0.19946	0.027;0.015;0.009;0.012;0.014;0.009;0.001;0.002	T	0.23154	-1.0196	10	0.72032	D	0.01	.	7.8602	0.29506	0.0:0.0:0.211:0.789	.	2;2;2;2;2;2;2;2	Q96D32;Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;.;CLC7A_HUMAN;.	A	2	ENSP00000266456:E2A;ENSP00000298523:E2A;ENSP00000379743:E2A;ENSP00000302569:E2A;ENSP00000431461:E2A	ENSP00000298523:E2A	E	-	2	0	CLEC7A	10173944	0.392000	0.25229	0.694000	0.30210	0.433000	0.31745	0.528000	0.23002	0.930000	0.37217	-0.446000	0.05623	GAA		0.393	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954	
IGF1	3479	broad.mit.edu	37	12	102869449	102869449	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:102869449G>A	ENST00000307046.8	-	2	373	c.192C>T	c.(190-192)ttC>ttT	p.F64F	IGF1_ENST00000424202.2_Silent_p.F48F|IGF1_ENST00000456098.1_Silent_p.F64F|IGF1_ENST00000392904.1_Silent_p.F64F|IGF1_ENST00000337514.6_Silent_p.F64F	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	64	B.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)	p.F64F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CTCCACACACGAACTGAAGAG	0.557																																					p.F64F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C192T	12						.						72.0	73.0	73.0					12																	102869449		2203	4300	6503	101393579	SO:0001819	synonymous_variant	3479	exon2			X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.192C>T	12.37:g.102869449G>A			101393579	NM_001111285	B2RWM7|E9PD02|P01343|Q14620	Silent	SNP	ENST00000307046.8	37	CCDS44962.1																																																																																				0.557	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618	
STAB2	55576	broad.mit.edu	37	12	104049338	104049338	+	Silent	SNP	C	C	T	rs559457405		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104049338C>T	ENST00000388887.2	+	15	1917	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.L571L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACGGCACTCTCGATTACCTCC	0.453																																					p.L571L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1713T	12						.						175.0	141.0	153.0					12																	104049338		2203	4300	6503	102573468	SO:0001819	synonymous_variant	55576	exon15			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1713C>T	12.37:g.104049338C>T			102573468	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104063378	104063378	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104063378C>A	ENST00000388887.2	+	21	2436	c.2232C>A	c.(2230-2232)ttC>ttA	p.F744L	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.F744L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGAGGCTTCTCAAATCCAT	0.418																																					p.F744L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2232A	12						.						113.0	111.0	111.0					12																	104063378		2203	4300	6503	102587508	SO:0001583	missense	55576	exon21			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2232C>A	12.37:g.104063378C>A	ENSP00000373539:p.Phe744Leu		102587508	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371128	0.61624	.	.	ENSG00000136011	ENST00000388887	D	0.83673	-1.75	5.44	4.44	0.53790	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.243673	0.40818	N	0.001009	T	0.71854	0.3389	L	0.56396	1.775	0.41810	D	0.989969	B	0.28512	0.214	B	0.17433	0.018	T	0.63037	-0.6726	10	0.10636	T	0.68	.	4.2761	0.10809	0.0:0.6921:0.0:0.3079	.	744	Q8WWQ8	STAB2_HUMAN	L	744	ENSP00000373539:F744L	ENSP00000373539:F744L	F	+	3	2	STAB2	102587508	0.729000	0.28090	0.972000	0.41901	0.972000	0.66771	1.255000	0.32909	2.568000	0.86640	0.650000	0.86243	TTC		0.418	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104100656	104100656	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104100656C>A	ENST00000388887.2	+	38	4287	c.4083C>A	c.(4081-4083)atC>atA	p.I1361I		NM_017564.9	NP_060034.9			stabilin 2									p.I1361I(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTAATGGCATCTGTTTGGATG	0.577																																					p.I1361I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4083A	12						.						134.0	116.0	122.0					12																	104100656		2203	4300	6503	102624786	SO:0001819	synonymous_variant	55576	exon38			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4083C>A	12.37:g.104100656C>A			102624786	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104121053	104121053	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104121053C>T	ENST00000388887.2	+	47	5064	c.4860C>T	c.(4858-4860)ttC>ttT	p.F1620F		NM_017564.9	NP_060034.9			stabilin 2									p.F1620F(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGCATTTCGTGAAAGATC	0.512																																					p.F1620F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4860T	12						.						244.0	238.0	240.0					12																	104121053		2203	4300	6503	102645183	SO:0001819	synonymous_variant	55576	exon47			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4860C>T	12.37:g.104121053C>T			102645183	NM_017564		Silent	SNP	ENST00000388887.2	37	CCDS31888.1																																																																																				0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
NT5DC3	51559	broad.mit.edu	37	12	104186994	104186994	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104186994C>T	ENST00000392876.3	-	9	1007	c.967G>A	c.(967-969)Gat>Aat	p.D323N		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	323						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D248N(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATGACCACATCGAACAGGTCC	0.428																																					p.D323N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G967A	12						.						194.0	204.0	200.0					12																	104186994		2203	4300	6503	102711124	SO:0001583	missense	0	exon9			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.967G>A	12.37:g.104186994C>T	ENSP00000376615:p.Asp323Asn		102711124	NM_001031701	Q9NUM7|Q9P2T2|Q9P2T3	IGR	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726969	0.96847	.	.	ENSG00000111696	ENST00000392876	T	0.49139	0.79	5.99	5.99	0.97316	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.75210	-0.3398	10	0.72032	D	0.01	-34.2755	20.4777	0.99188	0.0:1.0:0.0:0.0	.	323	Q86UY8	NT5D3_HUMAN	N	323	ENSP00000376615:D323N	ENSP00000376615:D323N	D	-	1	0	NT5DC3	102711124	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAT		0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
HSP90B1	7184	broad.mit.edu	37	12	104331554	104331554	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104331554A>G	ENST00000299767.5	+	6	1007	c.825A>G	c.(823-825)atA>atG	p.I275M		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	275					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.I275M(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CACAGTTCATAAACTTTCCTA	0.289																																					p.I275M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A825G	12						.						45.0	46.0	46.0					12																	104331554		2202	4299	6501	102855684	SO:0001583	missense	7184	exon6			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.825A>G	12.37:g.104331554A>G	ENSP00000299767:p.Ile275Met		102855684	NM_003299	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.091738	0.55968	.	.	ENSG00000166598	ENST00000299767;ENST00000537375	T	0.15603	2.41	5.67	0.246	0.15516	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	H	0.98295	4.195	0.80722	D	1	B;P	0.49862	0.224;0.929	B;P	0.48089	0.351;0.566	T	0.58352	-0.7651	10	0.72032	D	0.01	.	10.1979	0.43065	0.3959:0.491:0.0:0.1131	.	301;275	Q59FC6;P14625	.;ENPL_HUMAN	M	275	ENSP00000299767:I275M	ENSP00000299767:I275M	I	+	3	3	HSP90B1	102855684	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.936000	0.48971	-0.191000	0.10448	0.533000	0.62120	ATA		0.289	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
HSP90B1	7184	broad.mit.edu	37	12	104333311	104333311	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104333311G>A	ENST00000299767.5	+	8	1182	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	334					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E334K(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTGGGACTGGGAACTTATGAA	0.353																																					p.E334K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	12						.						110.0	115.0	113.0					12																	104333311		2203	4300	6503	102857441	SO:0001583	missense	7184	exon8			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1000G>A	12.37:g.104333311G>A	ENSP00000299767:p.Glu334Lys		102857441	NM_003299	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405242	0.96051	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.13778	2.56	5.5	5.5	0.81552	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.85777	2.775	0.80722	D	1	P	0.45569	0.861	P	0.51918	0.684	T	0.26503	-1.0101	10	0.66056	D	0.02	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	334	P14625	ENPL_HUMAN	K	334;84	ENSP00000299767:E334K	ENSP00000299767:E334K	E	+	1	0	HSP90B1	102857441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.568000	0.86640	0.650000	0.86243	GAA		0.353	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
HSP90B1	7184	broad.mit.edu	37	12	104336389	104336389	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104336389G>T	ENST00000299767.5	+	12	1641	c.1459G>T	c.(1459-1461)Gaa>Taa	p.E487*		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	487					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E487*(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTTTTGGAAAGAATTTGGTAC	0.383																																					p.E487X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1459T	12						.						101.0	100.0	100.0					12																	104336389		2203	4300	6503	102860519	SO:0001587	stop_gained	7184	exon12			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1459G>T	12.37:g.104336389G>T	ENSP00000299767:p.Glu487*		102860519	NM_003299	Q96A97	Nonsense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	41	8.564876	0.98866	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	487;237	.	ENSP00000299767:E487X	E	+	1	0	HSP90B1	102860519	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GAA		0.383	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
GLT8D2	83468	broad.mit.edu	37	12	104408801	104408801	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104408801C>A	ENST00000360814.4	-	4	507	c.102G>T	c.(100-102)aaG>aaT	p.K34N	GLT8D2_ENST00000547583.1_Missense_Mutation_p.K34N|GLT8D2_ENST00000546436.1_Missense_Mutation_p.K34N|GLT8D2_ENST00000548660.1_Missense_Mutation_p.K34N	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	34						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.K34N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCGTCATTCTTGGGCACAG	0.443																																					p.K34N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G102T	12						.						98.0	84.0	89.0					12																	104408801		2203	4300	6503	102932931	SO:0001583	missense	83468	exon4			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.102G>T	12.37:g.104408801C>A	ENSP00000354053:p.Lys34Asn		102932931	NM_031302	Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514968	0.27123	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000547583	T;T;T;T	0.52526	1.35;1.35;1.35;0.66	5.19	4.28	0.50868	.	0.559280	0.20856	N	0.084422	T	0.34803	0.0910	L	0.29908	0.895	0.09310	N	0.999996	B	0.24186	0.099	B	0.17098	0.017	T	0.14699	-1.0463	10	0.27785	T	0.31	.	12.7777	0.57457	0.0:0.8345:0.1655:0.0	.	34	Q9H1C3	GL8D2_HUMAN	N	34	ENSP00000354053:K34N;ENSP00000449750:K34N;ENSP00000447450:K34N;ENSP00000448065:K34N	ENSP00000354053:K34N	K	-	3	2	GLT8D2	102932931	0.017000	0.18338	0.003000	0.11579	0.048000	0.14542	1.307000	0.33516	1.121000	0.41925	0.655000	0.94253	AAG		0.443	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
GLT8D2	83468	broad.mit.edu	37	12	104408872	104408872	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104408872G>A	ENST00000360814.4	-	4	436	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	GLT8D2_ENST00000547583.1_Silent_p.L11L|GLT8D2_ENST00000546436.1_Silent_p.L11L|GLT8D2_ENST00000548660.1_Silent_p.L11L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	11						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L11L(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AGGAACAGCAGCACCTGATTA	0.428																																					p.L11L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C31T	12						.						109.0	95.0	100.0					12																	104408872		2203	4300	6503	102933002	SO:0001819	synonymous_variant	83468	exon4			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.31C>T	12.37:g.104408872G>A			102933002	NM_031302	Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.428	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
HCFC2	29915	broad.mit.edu	37	12	104461860	104461860	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104461860G>A	ENST00000229330.4	+	3	552	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	150					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.E150K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAACGAAAGCGAAGATTCAAA	0.383																																					p.E150K	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448A	12						.						169.0	164.0	166.0					12																	104461860		2203	4300	6503	102985990	SO:0001583	missense	29915	exon3			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.448G>A	12.37:g.104461860G>A	ENSP00000229330:p.Glu150Lys		102985990	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374295	0.95923	.	.	ENSG00000111727	ENST00000229330;ENST00000550444	T	0.73789	-0.78	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.83216	-0.0071	10	0.40728	T	0.16	-26.7769	19.6392	0.95751	0.0:0.0:1.0:0.0	.	150	Q9Y5Z7	HCFC2_HUMAN	K	150;61	ENSP00000229330:E150K	ENSP00000229330:E150K	E	+	1	0	HCFC2	102985990	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.722000	0.93159	0.491000	0.48974	GAA		0.383	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
HCFC2	29915	broad.mit.edu	37	12	104497010	104497010	+	Missense_Mutation	SNP	C	C	T	rs201154697		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104497010C>T	ENST00000229330.4	+	15	2442	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	780	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.R780W(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACACAAGTTCGGTGGCTTCA	0.358																																					p.R780W	Esophageal Squamous(184;1814 2036 4771 6974 15702)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2338T	12						.						94.0	91.0	92.0					12																	104497010		2203	4300	6503	103021140	SO:0001583	missense	29915	exon15			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2338C>T	12.37:g.104497010C>T	ENSP00000229330:p.Arg780Trp		103021140	NM_013320	B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619540	0.66787	.	.	ENSG00000111727	ENST00000229330	T	0.54479	0.57	5.9	4.99	0.66335	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.075560	0.52532	D	0.000065	T	0.70500	0.3231	M	0.74467	2.265	0.46981	D	0.999273	D	0.89917	1.0	D	0.67900	0.954	T	0.74830	-0.3531	10	0.87932	D	0	-7.4402	13.8708	0.63617	0.2776:0.7224:0.0:0.0	.	780	Q9Y5Z7	HCFC2_HUMAN	W	780	ENSP00000229330:R780W	ENSP00000229330:R780W	R	+	1	2	HCFC2	103021140	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.008000	0.49544	1.438000	0.47492	0.650000	0.86243	CGG		0.358	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320	
EID3	493861	broad.mit.edu	37	12	104698266	104698266	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104698266G>A	ENST00000527879.1	+	1	750	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000354940.6_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3									p.R185Q(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCAAAGCCCCGACTTGAACAC	0.423																																					p.R185Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G554A	12						.						118.0	117.0	117.0					12																	104698266		1885	4114	5999	103222396	SO:0001583	missense	493861	exon1			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.554G>A	12.37:g.104698266G>A	ENSP00000435619:p.Arg185Gln		103222396	NM_001008394		Missense_Mutation	SNP	ENST00000527879.1	37	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982186	0.74474	.	.	ENSG00000255150	ENST00000527879	T	0.53640	0.61	4.94	4.04	0.47022	.	.	.	.	.	T	0.65831	0.2729	M	0.74647	2.275	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54951	-0.8216	9	0.37606	T	0.19	.	10.8797	0.46931	0.0:0.0:0.8124:0.1876	.	185	Q8N140	EID3_HUMAN	Q	185	ENSP00000435619:R185Q	ENSP00000435619:R185Q	R	+	2	0	EID3	103222396	0.536000	0.26378	0.017000	0.16124	0.232000	0.25224	3.036000	0.49767	1.449000	0.47699	0.555000	0.69702	CGA		0.423	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394	
CHST11	50515	broad.mit.edu	37	12	104995690	104995690	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:104995690G>A	ENST00000303694.5	+	2	564	c.125G>A	c.(124-126)cGg>cAg	p.R42Q	CHST11_ENST00000546689.1_Missense_Mutation_p.R37Q|CHST11_ENST00000549260.1_Missense_Mutation_p.R37Q|CHST11_ENST00000547956.1_Missense_Mutation_p.R42Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	42					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R42Q(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCAGTCATGCGGAGGAATCCC	0.498																																					p.R37Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G110A	12						.						86.0	78.0	80.0					12																	104995690		2203	4300	6503	103519820	SO:0001583	missense	50515	exon2			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.125G>A	12.37:g.104995690G>A	ENSP00000305725:p.Arg42Gln		103519820	NM_001173982	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543720	0.65198	.	.	ENSG00000171310	ENST00000547956;ENST00000549260;ENST00000303694;ENST00000546689;ENST00000549016	T;T;T	0.67865	-0.29;-0.27;-0.22	5.73	4.84	0.62591	.	0.462257	0.22116	N	0.064416	T	0.48447	0.1500	L	0.29908	0.895	0.44660	D	0.99764	B;B	0.27765	0.188;0.009	B;B	0.19148	0.024;0.002	T	0.39313	-0.9620	10	0.11485	T	0.65	-12.461	10.2124	0.43150	0.1538:0.0:0.8462:0.0	.	37;42	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	Q	42;37;42;37;2	ENSP00000450004:R37Q;ENSP00000305725:R42Q;ENSP00000449095:R2Q	ENSP00000305725:R42Q	R	+	2	0	CHST11	103519820	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.144000	0.64832	1.567000	0.49668	-0.136000	0.14681	CGG		0.498	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413	
SLC41A2	84102	broad.mit.edu	37	12	105238336	105238336	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105238336G>A	ENST00000258538.3	-	9	1577	c.1450C>T	c.(1450-1452)Ctc>Ttc	p.L484F		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	484					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L401F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATAGTGTAGAGGAAAATTAAA	0.284																																					p.L484F	Esophageal Squamous(195;176 2919 4272 35572)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1450T	12						.						66.0	74.0	71.0					12																	105238336		2203	4297	6500	103762466	SO:0001583	missense	84102	exon9			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1450C>T	12.37:g.105238336G>A	ENSP00000258538:p.Leu484Phe		103762466	NM_032148	Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681444	0.68042	.	.	ENSG00000136052	ENST00000258538	T	0.33654	1.4	5.59	5.59	0.84812	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.53019	-0.8497	10	0.36615	T	0.2	-4.2263	10.6719	0.45764	0.1158:0.0:0.8842:0.0	.	484	Q96JW4	S41A2_HUMAN	F	484	ENSP00000258538:L484F	ENSP00000258538:L484F	L	-	1	0	SLC41A2	103762466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.742000	0.62103	2.634000	0.89283	0.655000	0.94253	CTC		0.284	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148	
ALDH1L2	160428	broad.mit.edu	37	12	105424187	105424187	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105424187C>T	ENST00000258494.9	-	21	2571	c.2431G>A	c.(2431-2433)Gtg>Atg	p.V811M	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	811	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V811M(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCTGTGAACACGGTCGGCTCC	0.373																																					p.V811M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2431A	12						.						87.0	83.0	84.0					12																	105424187		2203	4300	6503	103948317	SO:0001583	missense	160428	exon21			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2431G>A	12.37:g.105424187C>T	ENSP00000258494:p.Val811Met		103948317	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.560897|4.560897	0.86335|0.86335	.|.	.|.	ENSG00000136010|ENSG00000136010	ENST00000548418|ENST00000258494	.|D	.|0.82081	.|-1.57	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93383|0.93383	0.7890|0.7890	H|H	0.95645|0.95645	3.7|3.7	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.68353	.|0.957	D|D	0.94563|0.94563	0.7764|0.7764	5|10	.|0.87932	.|D	.|0	.|.	14.7322|14.7322	0.69391|0.69391	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	.|811	.|Q3SY69	.|AL1L2_HUMAN	H|M	63|811	.|ENSP00000258494:V811M	.|ENSP00000258494:V811M	R|V	-|-	2|1	0|0	ALDH1L2|ALDH1L2	103948317|103948317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	5.970000|5.970000	0.70431|0.70431	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.373	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
ALDH1L2	160428	broad.mit.edu	37	12	105428095	105428095	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105428095C>T	ENST00000258494.9	-	19	2367	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	743	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.E743K(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GTCACAAATTCGTCGTGGATG	0.423																																					p.E743K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2227A	12						.						105.0	85.0	92.0					12																	105428095		2203	4300	6503	103952225	SO:0001583	missense	160428	exon19			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2227G>A	12.37:g.105428095C>T	ENSP00000258494:p.Glu743Lys		103952225	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508300	0.64410	.	.	ENSG00000136010	ENST00000258494	T	0.17854	2.25	5.36	5.36	0.76844	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.044515	0.85682	D	0.000000	T	0.16854	0.0405	L	0.41236	1.265	0.80722	D	1	B	0.32604	0.377	B	0.25405	0.06	T	0.02269	-1.1185	10	0.45353	T	0.12	.	19.4661	0.94943	0.0:1.0:0.0:0.0	.	743	Q3SY69	AL1L2_HUMAN	K	743	ENSP00000258494:E743K	ENSP00000258494:E743K	E	-	1	0	ALDH1L2	103952225	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	3.819000	0.55686	2.672000	0.90937	0.555000	0.69702	GAA		0.423	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
ALDH1L2	160428	broad.mit.edu	37	12	105431886	105431886	+	Nonsense_Mutation	SNP	G	G	A	rs376554461		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105431886G>A	ENST00000258494.9	-	18	2280	c.2140C>T	c.(2140-2142)Cga>Tga	p.R714*	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	714	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.R714*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTTACCATTCGCACAGCCTTG	0.478																																					p.R714X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2140T	12						.						88.0	80.0	83.0					12																	105431886		2203	4300	6503	103956016	SO:0001587	stop_gained	160428	exon18			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2140C>T	12.37:g.105431886G>A	ENSP00000258494:p.Arg714*		103956016	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Nonsense_Mutation	SNP	ENST00000258494.9	37	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	40	8.097870	0.98651	.	.	ENSG00000136010	ENST00000258494	.	.	.	5.47	-0.542	0.11854	.	0.051011	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7513	0.85487	0.0:0.0:0.1923:0.8077	.	.	.	.	X	714	.	ENSP00000258494:R714X	R	-	1	2	ALDH1L2	103956016	0.998000	0.40836	0.938000	0.37757	0.995000	0.86356	0.415000	0.21181	-0.013000	0.14199	0.650000	0.86243	CGA		0.478	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
KIAA1033	23325	broad.mit.edu	37	12	105543428	105543428	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105543428C>A	ENST00000332180.5	+	25	2637	c.2550C>A	c.(2548-2550)ttC>ttA	p.F850L		NM_015275.1	NP_056090.1			KIAA1033									p.F850L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAAGAAGTTCTATATATTTA	0.234																																					p.F850L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2550A	12						.						51.0	52.0	52.0					12																	105543428		1777	4026	5803	104067558	SO:0001583	missense	23325	exon25			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2550C>A	12.37:g.105543428C>A	ENSP00000328062:p.Phe850Leu		104067558	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704082	0.48412	.	.	ENSG00000136051	ENST00000332180	T	0.43688	0.94	5.67	2.79	0.32731	.	0.045348	0.85682	D	0.000000	T	0.32496	0.0831	L	0.47716	1.5	0.53005	D	0.999965	P;P	0.35011	0.48;0.48	B;B	0.31495	0.131;0.131	T	0.09250	-1.0683	10	0.72032	D	0.01	.	8.5872	0.33666	0.0:0.6075:0.0:0.3925	.	851;850	B7ZKT9;Q2M389	.;WASH7_HUMAN	L	850	ENSP00000328062:F850L	ENSP00000328062:F850L	F	+	3	2	KIAA1033	104067558	0.956000	0.32656	1.000000	0.80357	0.991000	0.79684	0.086000	0.14935	0.295000	0.22570	0.557000	0.71058	TTC		0.234	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
KIAA1033	23325	broad.mit.edu	37	12	105553811	105553811	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105553811G>A	ENST00000332180.5	+	29	3032	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q		NM_015275.1	NP_056090.1			KIAA1033									p.R982Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GATCACACACGAAATTCTGCC	0.363																																					p.R982Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2945A	12						.						91.0	92.0	92.0					12																	105553811		1806	4074	5880	104077941	SO:0001583	missense	23325	exon29			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2945G>A	12.37:g.105553811G>A	ENSP00000328062:p.Arg982Gln		104077941	NM_015275		Missense_Mutation	SNP	ENST00000332180.5	37	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409055	0.62399	.	.	ENSG00000136051	ENST00000332180;ENST00000551224	T;T	0.75938	-0.98;-0.98	4.98	4.98	0.66077	.	0.050555	0.85682	D	0.000000	T	0.53045	0.1772	N	0.02391	-0.57	0.58432	D	0.999995	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.50162	-0.8860	10	0.32370	T	0.25	.	18.2844	0.90110	0.0:0.0:1.0:0.0	.	983;982	B7ZKT9;Q2M389	.;WASH7_HUMAN	Q	982;60	ENSP00000328062:R982Q;ENSP00000447015:R60Q	ENSP00000328062:R982Q	R	+	2	0	KIAA1033	104077941	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.433000	0.73404	2.314000	0.78098	0.484000	0.47621	CGA		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
APPL2	55198	broad.mit.edu	37	12	105582196	105582196	+	Missense_Mutation	SNP	G	G	A	rs536236110		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105582196G>A	ENST00000258530.3	-	17	1714	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	APPL2_ENST00000539978.2_Missense_Mutation_p.R454W|APPL2_ENST00000551662.1_Missense_Mutation_p.R503W	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.R497W(2)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCAAAAACCGAACTATAAAC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21010	0.0		0.0	False		,,,				2504	0.001				p.R497W												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C1489T	12						.						93.0	91.0	92.0					12																	105582196		2203	4300	6503	104106326	SO:0001583	missense	55198	exon17			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1489C>T	12.37:g.105582196G>A	ENSP00000258530:p.Arg497Trp		104106326	NM_018171	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175533	0.94807	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.24908	1.83;1.83;1.83	5.35	5.35	0.76521	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.054287	0.85682	D	0.000000	T	0.54013	0.1832	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.69654	0.946;0.727;0.965	T	0.58825	-0.7568	10	0.87932	D	0	-21.6286	19.0617	0.93096	0.0:0.0:1.0:0.0	.	503;454;497	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	W	497;454;503	ENSP00000258530:R497W;ENSP00000444472:R454W;ENSP00000446917:R503W	ENSP00000258530:R497W	R	-	1	2	APPL2	104106326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.497000	0.84241	0.637000	0.83480	CGG		0.423	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171	
KLRC3	3823	broad.mit.edu	37	12	10570992	10570992	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10570992G>A	ENST00000396439.2	-	4	481	c.437C>T	c.(436-438)gCt>gTt	p.A146V	KLRC3_ENST00000381904.2_Missense_Mutation_p.A146V|KLRC3_ENST00000381903.2_Missense_Mutation_p.A146V|NKG2-E_ENST00000539033.1_Missense_Mutation_p.A146V	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	146	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.A146V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTTCTTTGAAGCACAGGCCTG	0.358																																					p.A146V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C437T	12						.						158.0	165.0	163.0					12																	10570992		2203	4300	6503	10462259	SO:0001583	missense	3823	exon4			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.437C>T	12.37:g.10570992G>A	ENSP00000379716:p.Ala146Val		10462259	NM_007333	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	g	11.92	1.782504	0.31502	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	2.34	0.377	0.16198	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.662784	0.13524	N	0.381459	T	0.11024	0.0269	M	0.71206	2.165	0.09310	N	1	P;P;P	0.41393	0.51;0.748;0.526	B;P;P	0.48368	0.382;0.575;0.472	T	0.15065	-1.0450	10	0.38643	T	0.18	.	4.1468	0.10220	0.3944:0.0:0.6056:0.0	.	146;146;146	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	V	146	ENSP00000437563:A146V;ENSP00000379716:A146V;ENSP00000371329:A146V;ENSP00000371328:A146V	ENSP00000371328:A146V	A	-	2	0	KLRC3;RP11-277P12.6	10462259	0.001000	0.12720	0.093000	0.20910	0.006000	0.05464	0.504000	0.22626	0.097000	0.17492	0.454000	0.30748	GCT		0.358	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261	
APPL2	55198	broad.mit.edu	37	12	105593257	105593257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:105593257C>A	ENST00000258530.3	-	10	982	c.757G>T	c.(757-759)Gaa>Taa	p.E253*	APPL2_ENST00000539978.2_Nonsense_Mutation_p.E210*|APPL2_ENST00000551662.1_Nonsense_Mutation_p.E259*|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.E253*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAAAGTAATTCTTGCTGGGAC	0.493																																					p.E253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G757T	12						.						132.0	119.0	124.0					12																	105593257		2203	4300	6503	104117387	SO:0001587	stop_gained	55198	exon10			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.757G>T	12.37:g.105593257C>A	ENSP00000258530:p.Glu253*		104117387	NM_018171	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Nonsense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430200	0.83776	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	.	.	.	5.93	5.93	0.95920	.	0.045908	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-29.1572	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	253;210;259	.	ENSP00000258530:E253X	E	-	1	0	APPL2	104117387	1.000000	0.71417	0.826000	0.32828	0.399000	0.30720	7.298000	0.78815	2.826000	0.97356	0.655000	0.94253	GAA		0.493	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171	
NUAK1	9891	broad.mit.edu	37	12	106464625	106464625	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:106464625G>A	ENST00000261402.2	-	6	2138	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.F253F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CGAAACCATCGAAGGGCATTG	0.547																																					p.F253F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C759T	12						.						114.0	101.0	105.0					12																	106464625		2203	4300	6503	104988755	SO:0001819	synonymous_variant	9891	exon6			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.759C>T	12.37:g.106464625G>A			104988755	NM_014840	A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	CCDS31892.1																																																																																				0.547	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
CKAP4	10970	broad.mit.edu	37	12	106633632	106633632	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:106633632C>T	ENST00000378026.4	-	2	1115	c.979G>A	c.(979-981)Gag>Aag	p.E327K	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	327						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E327K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CTCACCAGCTCGCGGACCTCG	0.602																																					p.E327K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979A	12						.						37.0	38.0	38.0					12																	106633632		2203	4300	6503	105157762	SO:0001583	missense	10970	exon2			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.979G>A	12.37:g.106633632C>T	ENSP00000367265:p.Glu327Lys		105157762	NM_006825	Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488809	0.84962	.	.	ENSG00000136026	ENST00000378026	T	0.78246	-1.16	5.58	5.58	0.84498	.	0.105878	0.64402	D	0.000006	D	0.84151	0.5409	M	0.76328	2.33	0.49130	D	0.99975	D	0.65815	0.995	P	0.56216	0.794	T	0.83003	-0.0176	10	0.33940	T	0.23	-30.1539	15.1073	0.72332	0.0:0.859:0.141:0.0	.	327	Q07065	CKAP4_HUMAN	K	327	ENSP00000367265:E327K	ENSP00000367265:E327K	E	-	1	0	CKAP4	105157762	1.000000	0.71417	0.990000	0.47175	0.852000	0.48524	5.037000	0.64170	2.641000	0.89580	0.563000	0.77884	GAG		0.602	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1		
POLR3B	55703	broad.mit.edu	37	12	106772092	106772092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:106772092G>T	ENST00000228347.4	+	8	766	c.544G>T	c.(544-546)Gag>Tag	p.E182*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.E124*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	182					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.E182*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTATCCAAGAGCAGCTGTC	0.418																																					p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	12						.						148.0	141.0	143.0					12																	106772092		2203	4300	6503	105296222	SO:0001587	stop_gained	55703	exon8			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.544G>T	12.37:g.106772092G>T	ENSP00000228347:p.Glu182*		105296222	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	39	7.786786	0.98489	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7127	19.49	0.95047	0.0:0.0:1.0:0.0	.	.	.	.	X	182;182;124	.	ENSP00000228347:E182X	E	+	1	0	POLR3B	105296222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.703000	0.98714	2.704000	0.92352	0.650000	0.86243	GAG		0.418	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
POLR3B	55703	broad.mit.edu	37	12	106824068	106824068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:106824068G>T	ENST00000228347.4	+	14	1503	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	POLR3B_ENST00000539066.1_Missense_Mutation_p.K369N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	427					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.K427N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTCTTTAAAGAGATTTAAAA	0.433																																					p.K427N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1281T	12						.						101.0	111.0	107.0					12																	106824068		2203	4300	6503	105348198	SO:0001583	missense	55703	exon14			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1281G>T	12.37:g.106824068G>T	ENSP00000228347:p.Lys427Asn		105348198	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860949	0.71949	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.77489	-1.1;-1.1	5.71	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	H	0.95187	3.635	0.80722	D	1	P	0.52842	0.956	P	0.50136	0.632	D	0.89441	0.3723	10	0.87932	D	0	-27.3411	10.7865	0.46409	0.1442:0.0:0.8558:0.0	.	427	Q9NW08	RPC2_HUMAN	N	427;427;369	ENSP00000228347:K427N;ENSP00000445721:K369N	ENSP00000228347:K427N	K	+	3	2	POLR3B	105348198	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.643000	0.46604	1.412000	0.46977	-0.136000	0.14681	AAG		0.433	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
POLR3B	55703	broad.mit.edu	37	12	106827518	106827518	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:106827518G>A	ENST00000228347.4	+	16	1871	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.R492Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	550					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.R550Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGTGTCATTCGAGACCACAAA	0.328																																					p.R550Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649A	12						.						106.0	103.0	104.0					12																	106827518		2203	4300	6503	105351648	SO:0001583	missense	55703	exon16			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1649G>A	12.37:g.106827518G>A	ENSP00000228347:p.Arg550Gln		105351648	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267008	0.80469	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.77098	-1.07;-1.07	6.03	6.03	0.97812	RNA polymerase Rpb2, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	L	0.46614	1.455	0.80722	D	1	B	0.21225	0.053	B	0.26693	0.072	T	0.70342	-0.4898	10	0.52906	T	0.07	-11.3506	20.5666	0.99351	0.0:0.0:1.0:0.0	.	550	Q9NW08	RPC2_HUMAN	Q	550;550;492	ENSP00000228347:R550Q;ENSP00000445721:R492Q	ENSP00000228347:R550Q	R	+	2	0	POLR3B	105351648	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.588000	0.82629	2.854000	0.98071	0.655000	0.94253	CGA		0.328	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
RFX4	5992	broad.mit.edu	37	12	107103124	107103124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107103124C>T	ENST00000392842.1	+	9	1264	c.850C>T	c.(850-852)Cga>Tga	p.R284*	RFX4_ENST00000229387.5_Nonsense_Mutation_p.R190*|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Nonsense_Mutation_p.R293*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	284					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R293*(1)|p.R284*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAGGTGATTCGAAAGTTTGC	0.448																																					p.R190X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C568T	12						.						92.0	81.0	85.0					12																	107103124		2203	4300	6503	105627254	SO:0001587	stop_gained	5992	exon5			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.850C>T	12.37:g.107103124C>T	ENSP00000376585:p.Arg284*		105627254	NM_032491	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	ENST00000392842.1	37	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	38	7.256001	0.98168	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9846	13.9022	0.63812	0.2673:0.7327:0.0:0.0	.	.	.	.	X	284;293;293;229;190	.	ENSP00000229387:R190X	R	+	1	2	RFX4	105627254	0.974000	0.33945	1.000000	0.80357	0.995000	0.86356	1.605000	0.36815	2.682000	0.91365	0.650000	0.86243	CGA		0.448	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
RFX4	5992	broad.mit.edu	37	12	107103204	107103204	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107103204C>T	ENST00000392842.1	+	9	1344	c.930C>T	c.(928-930)ttC>ttT	p.F310F	RFX4_ENST00000229387.5_Silent_p.F216F|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.F319F	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	310					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F310F(1)|p.F319F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACATCAAGTTCGAATGTAAGT	0.408																																					p.F216F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C648T	12						.						79.0	69.0	72.0					12																	107103204		2203	4300	6503	105627334	SO:0001819	synonymous_variant	5992	exon5			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.930C>T	12.37:g.107103204C>T			105627334	NM_032491	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																				0.408	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
RIC8B	55188	broad.mit.edu	37	12	107177781	107177781	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107177781G>A	ENST00000392839.2	+	2	197	c.91G>A	c.(91-93)Gct>Act	p.A31T	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.A31T|RIC8B_ENST00000355478.2_5'UTR	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	31					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A31T(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TCAGCATAGGGCTACTTTCAA	0.333																																					p.A31T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91A	12						.						134.0	129.0	131.0					12																	107177781		2203	4300	6503	105701911	SO:0001583	missense	55188	exon2			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.91G>A	12.37:g.107177781G>A	ENSP00000376583:p.Ala31Thr		105701911	NM_018157	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629075	0.46944	.	.	ENSG00000111785	ENST00000392837;ENST00000392839	.	.	.	5.48	4.58	0.56647	.	0.548643	0.20031	N	0.100715	T	0.35508	0.0934	N	0.08118	0	0.80722	D	1	B;B	0.16396	0.001;0.017	B;B	0.11329	0.001;0.006	T	0.12578	-1.0542	9	0.21014	T	0.42	-0.026	11.9737	0.53078	0.0:0.0:0.8264:0.1736	.	31;31	Q9NVN3;B7WPL0	RIC8B_HUMAN;.	T	31	.	ENSP00000376582:A31T	A	+	1	0	RIC8B	105701911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.270000	0.43355	1.421000	0.47157	0.557000	0.71058	GCT		0.333	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157	
RIC8B	55188	broad.mit.edu	37	12	107219576	107219576	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107219576G>T	ENST00000392839.2	+	4	920	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392837.4_Missense_Mutation_p.D272Y|RIC8B_ENST00000355478.2_Missense_Mutation_p.D232Y	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	272					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D272Y(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TCCAACTGAAGACAAAACAGA	0.388																																					p.D272Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814T	12						.						119.0	105.0	110.0					12																	107219576		2203	4300	6503	105743706	SO:0001583	missense	55188	exon4			AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.814G>T	12.37:g.107219576G>T	ENSP00000376583:p.Asp272Tyr		105743706	NM_018157	A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.120853|4.120853	0.77436|0.77436	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	T;T;T|.	0.56611|.	0.45;0.45;0.45|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Armadillo-type fold (1);|.	0.044998|.	0.85682|.	D|.	0.000000|.	T|T	0.74741|0.74741	0.3756|0.3756	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.993;0.997;0.997|.	P;D;D|.	0.69479|.	0.858;0.964;0.964|.	T|T	0.74340|0.74340	-0.3697|-0.3697	10|5	0.56958|.	D|.	0.05|.	-2.4789|-2.4789	17.0142|17.0142	0.86414|0.86414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;272;272|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	Y|N	272;272;232|96	ENSP00000376582:D272Y;ENSP00000376583:D272Y;ENSP00000347662:D232Y|.	ENSP00000347662:D232Y|.	D|K	+|+	1|3	0|2	RIC8B|RIC8B	105743706|105743706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.018000|6.018000	0.70811|0.70811	2.535000|2.535000	0.85469|0.85469	0.591000|0.591000	0.81541|0.81541	GAC|AAG		0.388	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157	
MTERF2	80298	broad.mit.edu	37	12	107371395	107371395	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107371395A>G	ENST00000552029.1	-	2	3166	c.1098T>C	c.(1096-1098)atT>atC	p.I366I	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.I366I|MTERFD3_ENST00000240050.4_Silent_p.I366I			Q49AM1	MTEF2_HUMAN		366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)	p.I366I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTTTGGCCTGAATTTTGCCAA	0.378																																					p.I366I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1098C	12						.						142.0	138.0	139.0					12																	107371395		2203	4300	6503	105895525	SO:0001819	synonymous_variant	80298	exon3																														ENST00000552029.1:c.1098T>C	12.37:g.107371395A>G			105895525	NM_001033050	Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	CCDS9111.1																																																																																				0.378	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1		
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107393758G>A	ENST00000008527.5	-	6	1654	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	263					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R263*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338																																					p.R263X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C787T	12						.						67.0	68.0	68.0					12																	107393758		2203	4300	6503	105917888	SO:0001587	stop_gained	1407	exon6			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.787C>T	12.37:g.107393758G>A	ENSP00000008527:p.Arg263*		105917888	NM_004075		Nonsense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	G	45	11.598548	0.99580	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.82	4.91	0.64330	.	0.056923	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.14	15.7241	0.77740	0.0:0.0:0.8524:0.1475	.	.	.	.	X	263	.	ENSP00000008527:R263X	R	-	1	2	CRY1	105917888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	1.387000	0.46486	0.650000	0.86243	CGA		0.338	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
ERC1	23085	broad.mit.edu	37	12	1192486	1192486	+	Missense_Mutation	SNP	C	C	T	rs199966368		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:1192486C>T	ENST00000397203.2	+	3	1232	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	ERC1_ENST00000546231.2_Missense_Mutation_p.R276W|ERC1_ENST00000543086.3_Missense_Mutation_p.R276W|ERC1_ENST00000589028.1_Missense_Mutation_p.R276W|ERC1_ENST00000355446.5_Missense_Mutation_p.R276W|ERC1_ENST00000360905.4_Missense_Mutation_p.R276W			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	276					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.R276W(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGAGCATGAGCGGCAGGCCAA	0.493																																					p.R276W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	12						.						65.0	61.0	62.0					12																	1192486		2203	4300	6503	1062747	SO:0001583	missense	23085	exon3			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.826C>T	12.37:g.1192486C>T	ENSP00000380386:p.Arg276Trp		1062747	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992923	0.74703	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.62	-0.491	0.12045	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.68593	2.085	0.53688	D	0.999972	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.998;1.0	T	0.73655	-0.3914	10	0.87932	D	0	-17.0348	16.7633	0.85517	0.6221:0.3779:0.0:0.0	.	52;276;276;276	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	W	276;276;276;276;276;276;276;276;276;276;52	ENSP00000340054:R276W;ENSP00000380386:R276W;ENSP00000438546:R276W;ENSP00000445336:R276W;ENSP00000442739:R276W;ENSP00000347621:R276W;ENSP00000354158:R276W;ENSP00000410064:R276W	ENSP00000340054:R276W	R	+	1	2	ERC1	1062747	0.998000	0.40836	0.997000	0.53966	0.999000	0.98932	1.186000	0.32078	-0.003000	0.14444	0.655000	0.94253	CGG		0.493	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
ERC1	23085	broad.mit.edu	37	12	1192680	1192680	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:1192680G>T	ENST00000397203.2	+	3	1426	c.1020G>T	c.(1018-1020)gaG>gaT	p.E340D	ERC1_ENST00000546231.2_Missense_Mutation_p.E340D|ERC1_ENST00000543086.3_Missense_Mutation_p.E340D|ERC1_ENST00000589028.1_Missense_Mutation_p.E340D|ERC1_ENST00000355446.5_Missense_Mutation_p.E340D|ERC1_ENST00000360905.4_Missense_Mutation_p.E340D			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	340					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.E340D(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CAGAGGCAGAGATGCACGTTC	0.423																																					p.E340D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1020T	12						.						99.0	94.0	96.0					12																	1192680		2203	4300	6503	1062941	SO:0001583	missense	23085	exon3			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1020G>T	12.37:g.1192680G>T	ENSP00000380386:p.Glu340Asp		1062941	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267566	0.80469	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.56	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.68593	2.085	0.53005	D	0.999969	D;D;D;D	0.89917	1.0;0.997;0.997;0.998	D;D;D;D	0.91635	0.999;0.99;0.99;0.966	T	0.65689	-0.6107	10	0.49607	T	0.09	-25.0619	11.6838	0.51474	0.1433:0.0:0.8567:0.0	.	116;340;340;340	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	D	340;340;340;340;340;340;340;340;340;340;116	ENSP00000340054:E340D;ENSP00000380386:E340D;ENSP00000438546:E340D;ENSP00000445336:E340D;ENSP00000442739:E340D;ENSP00000347621:E340D;ENSP00000354158:E340D;ENSP00000410064:E340D	ENSP00000340054:E340D	E	+	3	2	ERC1	1062941	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.384000	0.44362	1.467000	0.48044	0.655000	0.94253	GAG		0.423	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
MAGOHB	55110	broad.mit.edu	37	12	10758956	10758956	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10758956C>T	ENST00000320756.2	-	5	455	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	MAGOHB_ENST00000381881.2_Missense_Mutation_p.R85Q|MAGOHB_ENST00000539554.1_Missense_Mutation_p.R76Q	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	122					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R122Q(1)		breast(2)|large_intestine(2)	4						GTAAAATACTCGAAGGCCTTC	0.279																																					p.R122Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365A	12						.						29.0	28.0	28.0					12																	10758956		2194	4272	6466	10650223	SO:0001583	missense	55110	exon5				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.365G>A	12.37:g.10758956C>T	ENSP00000319240:p.Arg122Gln		10650223	NM_018048		Missense_Mutation	SNP	ENST00000320756.2	37	CCDS8628.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580203	0.65992	.	.	ENSG00000111196	ENST00000539554;ENST00000320756;ENST00000381881	.	.	.	4.23	4.23	0.50019	.	0.082787	0.46442	U	0.000289	T	0.72128	0.3422	M	0.90650	3.135	0.80722	D	1	B	0.28082	0.2	B	0.27715	0.082	T	0.74940	-0.3493	9	0.44086	T	0.13	.	14.9007	0.70678	0.0:1.0:0.0:0.0	.	122	Q96A72	MGN2_HUMAN	Q	76;122;85	.	ENSP00000319240:R122Q	R	-	2	0	MAGOHB	10650223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.785000	0.75089	2.615000	0.88500	0.655000	0.94253	CGA		0.279	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399616.1	NM_018048	
CRY1	1407	broad.mit.edu	37	12	107415962	107415962	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:107415962A>C	ENST00000008527.5	-	2	1034	c.167T>G	c.(166-168)cTt>cGt	p.L56R		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	56	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.L56R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AAGACACTGAAGCAAAAATCT	0.313																																					p.L56R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T167G	12						.						65.0	71.0	69.0					12																	107415962		2203	4300	6503	105940092	SO:0001583	missense	1407	exon2			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.167T>G	12.37:g.107415962A>C	ENSP00000008527:p.Leu56Arg		105940092	NM_004075		Missense_Mutation	SNP	ENST00000008527.5	37	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490404	0.84962	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.38	5.38	0.77491	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87370	0.6160	H	0.96604	3.85	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.91021	0.4857	9	0.54805	T	0.06	-18.2268	15.049	0.71850	1.0:0.0:0.0:0.0	.	56	Q16526	CRY1_HUMAN	R	56	.	ENSP00000008527:L56R	L	-	2	0	CRY1	105940092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.010000	0.93611	2.036000	0.60181	0.528000	0.53228	CTT		0.313	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
PWP1	11137	broad.mit.edu	37	12	108082481	108082481	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:108082481A>G	ENST00000412830.3	+	3	389	c.221A>G	c.(220-222)gAg>gGg	p.E74G	PWP1_ENST00000541166.1_Missense_Mutation_p.E12G	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	74					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E74G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGCCCAAGAGAGCCCCTGGAG	0.537																																					p.E74G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221G	12						.						127.0	119.0	122.0					12																	108082481		2203	4300	6503	106606611	SO:0001583	missense	11137	exon3			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.221A>G	12.37:g.108082481A>G	ENSP00000387365:p.Glu74Gly		106606611	NM_007062	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	.	13.31	2.199572	0.38806	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.71934	-0.61;-0.6	5.69	5.69	0.88448	.	0.311853	0.32081	N	0.006616	T	0.61540	0.2355	L	0.41961	1.31	0.23984	N	0.996266	B	0.33694	0.421	B	0.29785	0.107	T	0.53872	-0.8377	10	0.23302	T	0.38	.	14.9158	0.70795	1.0:0.0:0.0:0.0	.	74	Q13610	PWP1_HUMAN	G	74;12;74;74;74;12	ENSP00000387365:E74G;ENSP00000445249:E12G	ENSP00000258531:E74G	E	+	2	0	PWP1	106606611	0.629000	0.27146	0.896000	0.35187	0.956000	0.61745	2.111000	0.41883	2.158000	0.67659	0.391000	0.25812	GAG		0.537	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062	
PRDM4	11108	broad.mit.edu	37	12	108145836	108145836	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:108145836C>G	ENST00000228437.5	-	5	941	c.482G>C	c.(481-483)gGc>gCc	p.G161A	RP11-864J10.4_ENST00000546714.1_RNA|PRDM4_ENST00000547268.1_5'Flank	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	161					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.G161A(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAAACAATGCCTGGTTCTAA	0.433																																					p.G161A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482C	12						.						160.0	148.0	152.0					12																	108145836		2203	4300	6503	106669966	SO:0001583	missense	11108	exon5			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.482G>C	12.37:g.108145836C>G	ENSP00000228437:p.Gly161Ala		106669966	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594090	0.66219	.	.	ENSG00000110851	ENST00000228437	D	0.81739	-1.53	5.66	5.66	0.87406	.	0.050500	0.85682	D	0.000000	T	0.68229	0.2978	L	0.27053	0.805	0.80722	D	1	P	0.37525	0.598	B	0.29077	0.098	T	0.73433	-0.3984	10	0.87932	D	0	-17.7265	13.9724	0.64250	0.0:0.9278:0.0:0.0722	.	161	Q9UKN5	PRDM4_HUMAN	A	161	ENSP00000228437:G161A	ENSP00000228437:G161A	G	-	2	0	PRDM4	106669966	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.282000	0.58971	2.656000	0.90262	0.655000	0.94253	GGC		0.433	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
SART3	9733	broad.mit.edu	37	12	108923999	108923999	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:108923999T>G	ENST00000228284.3	-	15	2069	c.1835A>C	c.(1834-1836)aAa>aCa	p.K612T	SART3_ENST00000431469.2_Missense_Mutation_p.K576T	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	612	Poly-Lys.|Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K612T(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTTCTTCTTTTTTAACGCTTT	0.478									Porokeratosis																												p.K612T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1835C	12						.						142.0	129.0	134.0					12																	108923999		2203	4300	6503	107448129	SO:0001583	missense	9733	exon15	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1835A>C	12.37:g.108923999T>G	ENSP00000228284:p.Lys612Thr		107448129	NM_014706	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227569	0.39399	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.59083	2.32;2.15;0.29	6.03	3.7	0.42460	.	0.241652	0.48767	D	0.000177	T	0.56321	0.1977	N	0.24115	0.695	0.80722	D	1	D;D;P;P	0.64830	0.985;0.994;0.941;0.819	P;P;P;B	0.60682	0.801;0.878;0.536;0.435	T	0.52771	-0.8531	10	0.40728	T	0.16	-11.6946	9.8033	0.40777	0.0:0.1377:0.0:0.8623	.	560;630;576;612	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	T	612;576;188;560;630	ENSP00000228284:K612T;ENSP00000414453:K576T;ENSP00000449386:K630T	ENSP00000228284:K612T	K	-	2	0	SART3	107448129	1.000000	0.71417	0.446000	0.26920	0.250000	0.25880	3.142000	0.50601	0.533000	0.28675	0.533000	0.62120	AAA		0.478	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		
SELPLG	6404	broad.mit.edu	37	12	109017951	109017951	+	Missense_Mutation	SNP	C	C	T	rs372642040		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109017951C>T	ENST00000550948.1	-	2	357	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	SELPLG_ENST00000388962.3_Missense_Mutation_p.E45K|SELPLG_ENST00000228463.6_Missense_Mutation_p.E61K			Q14242	SELPL_HUMAN	selectin P ligand	45					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E45K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TACTCATATTCGGTGGCCTGT	0.587																																					p.E45K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G133A	12						.	C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	83.0	79.0	80.0		181,133	-2.5	0.0	12		80	0,8600		0,0,4300	no	missense,missense	SELPLG	NM_001206609.1,NM_003006.4	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	61/429,45/413	109017951	1,13005	2203	4300	6503	107542080	SO:0001583	missense	6404	exon2				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.133G>A	12.37:g.109017951C>T	ENSP00000447752:p.Glu45Lys		107542080	NM_003006	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Missense_Mutation	SNP	ENST00000550948.1	37	CCDS31895.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040434	0.35989	2.27E-4	0.0	ENSG00000110876	ENST00000388962;ENST00000550948;ENST00000228463	T;T;T	0.35048	1.34;1.33;1.35	3.11	-2.52	0.06346	.	.	.	.	.	T	0.15089	0.0364	N	0.24115	0.695	0.09310	N	1	P;P;P	0.47677	0.899;0.815;0.815	B;B;B	0.35510	0.204;0.121;0.121	T	0.13575	-1.0504	9	0.52906	T	0.07	5.6865	0.3006	0.00272	0.2733:0.3036:0.1542:0.2689	.	61;45;45	B7Z5C7;Q14242;B4DHR9	.;SELPL_HUMAN;.	K	45;45;61	ENSP00000373614:E45K;ENSP00000447752:E45K;ENSP00000228463:E61K	ENSP00000228463:E61K	E	-	1	0	SELPLG	107542080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.604000	0.05760	-0.314000	0.08810	GAA		0.587	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1		
CORO1C	23603	broad.mit.edu	37	12	109042426	109042426	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109042426G>A	ENST00000261401.3	-	10	1432	c.1260C>T	c.(1258-1260)tgC>tgT	p.C420C	CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000549772.1_Silent_p.C426C|CORO1C_ENST00000421578.2_Silent_p.C315C|CORO1C_ENST00000420959.2_Silent_p.C473C|CORO1C_ENST00000541050.1_Silent_p.C420C	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	420					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.C420C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TGATCAGGTCGCACTTCTTGT	0.517																																					p.C420C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1260T	12						.						273.0	217.0	236.0					12																	109042426		2203	4300	6503	107566555	SO:0001819	synonymous_variant	23603	exon10			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1260C>T	12.37:g.109042426G>A			107566555	NM_014325	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	ENST00000261401.3	37	CCDS9120.1																																																																																				0.517	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	
CORO1C	23603	broad.mit.edu	37	12	109042528	109042528	+	Silent	SNP	G	G	T	rs537326835		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109042528G>T	ENST00000261401.3	-	10	1330	c.1158C>A	c.(1156-1158)atC>atA	p.I386I	CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000549772.1_Silent_p.I392I|CORO1C_ENST00000421578.2_Silent_p.I281I|CORO1C_ENST00000420959.2_Silent_p.I439I|CORO1C_ENST00000541050.1_Silent_p.I386I	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	386					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.I386I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGGAGATGAGGATTGGGTCTG	0.517																																					p.I386I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158A	12						.						219.0	163.0	182.0					12																	109042528		2203	4300	6503	107566657	SO:0001819	synonymous_variant	23603	exon10			BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.1158C>A	12.37:g.109042528G>T			107566657	NM_014325	A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	ENST00000261401.3	37	CCDS9120.1																																																																																				0.517	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	
SSH1	54434	broad.mit.edu	37	12	109192845	109192845	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109192845C>T	ENST00000326495.5	-	13	1373	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	SSH1_ENST00000326470.5_Missense_Mutation_p.R438H|SSH1_ENST00000360239.3_Missense_Mutation_p.R115H|SSH1_ENST00000551165.1_Missense_Mutation_p.R427H	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	427	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R427H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGTGATGCTGCGCTTCTGCTT	0.537																																					p.R438H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1313A	12						.						78.0	74.0	76.0					12																	109192845		2203	4300	6503	107716974	SO:0001583	missense	54434	exon12			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1280G>A	12.37:g.109192845C>T	ENSP00000315713:p.Arg427His		107716974	NM_001161331	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186623	0.94885	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.78126	0.48;-1.15;-1.15;-1.15	5.11	5.11	0.69529	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91157	0.7215	M	0.92367	3.3	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.93124	0.6527	10	0.87932	D	0	-30.9629	18.9257	0.92544	0.0:1.0:0.0:0.0	.	438;427;427;115	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	H	115;427;427;438	ENSP00000353374:R115H;ENSP00000315713:R427H;ENSP00000448824:R427H;ENSP00000326107:R438H	ENSP00000326107:R438H	R	-	2	0	SSH1	107716974	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	CGC		0.537	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
DAO	1610	broad.mit.edu	37	12	109278918	109278918	+	Missense_Mutation	SNP	G	G	A	rs375063129		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109278918G>A	ENST00000228476.3	+	2	340	c.136G>A	c.(136-138)Gac>Aac	p.D46N	DAO_ENST00000551281.1_Missense_Mutation_p.D46N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	46					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.D46N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CACCACCACCGACGTGGCTGC	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18282	0.0		0.0	False		,,,				2504	0.0				p.D46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	12						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	86.0	83.0	84.0		136	5.6	0.5	12		84	0,8600		0,0,4300	no	missense	DAO	NM_001917.4	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	46/348	109278918	1,13005	2203	4300	6503	107803047	SO:0001583	missense	1610	exon2			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.136G>A	12.37:g.109278918G>A	ENSP00000228476:p.Asp46Asn		107803047	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645408	0.67358	2.27E-4	0.0	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	T;T;T	0.81415	-1.49;-1.49;-1.49	5.58	5.58	0.84498	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86659	0.1903	10	0.16420	T	0.52	-12.7685	18.1463	0.89656	0.0:0.0:1.0:0.0	.	46;46	P14920;Q7Z312	OXDA_HUMAN;.	N	46	ENSP00000446853:D46N;ENSP00000228476:D46N;ENSP00000447104:D46N	ENSP00000228476:D46N	D	+	1	0	DAO	107803047	1.000000	0.71417	0.461000	0.27105	0.009000	0.06853	7.935000	0.87658	2.628000	0.89032	0.591000	0.81541	GAC		0.632	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
DAO	1610	broad.mit.edu	37	12	109294270	109294270	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109294270G>A	ENST00000228476.3	+	11	1207	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	DAO_ENST00000551281.1_Missense_Mutation_p.E269K	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	335					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.E335K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GAGAATCCTGGAAGAAAAGAA	0.557																																					p.E335K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003A	12						.						102.0	89.0	93.0					12																	109294270		2203	4300	6503	107818399	SO:0001583	missense	1610	exon11			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.1003G>A	12.37:g.109294270G>A	ENSP00000228476:p.Glu335Lys		107818399	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140875	0.37825	.	.	ENSG00000110887	ENST00000551281;ENST00000228476	T;T	0.43294	0.96;0.95	4.73	4.73	0.59995	NAD(P)-binding domain (1);	0.242140	0.40385	N	0.001116	T	0.29976	0.0750	L	0.33339	1.005	0.42377	D	0.992475	B;B	0.21309	0.054;0.024	B;B	0.09377	0.004;0.004	T	0.10359	-1.0633	10	0.08381	T	0.77	-11.5925	15.2271	0.73359	0.0:0.0:1.0:0.0	.	335;318	P14920;Q7Z312	OXDA_HUMAN;.	K	269;335	ENSP00000446853:E269K;ENSP00000228476:E335K	ENSP00000228476:E335K	E	+	1	0	DAO	107818399	1.000000	0.71417	0.971000	0.41717	0.597000	0.36814	4.256000	0.58810	2.169000	0.68431	0.561000	0.74099	GAA		0.557	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
USP30	84749	broad.mit.edu	37	12	109494587	109494587	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109494587C>T	ENST00000257548.5	+	2	277	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	USP30-AS1_ENST00000478808.2_RNA|USP30_ENST00000392784.2_Missense_Mutation_p.R31C	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	62					mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R53C(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAGAAAGAAGCGTAGAAAAGG	0.423																																					p.R62C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C184T	12						.						117.0	124.0	121.0					12																	109494587		2203	4300	6503	107978970	SO:0001583	missense	84749	exon2			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.184C>T	12.37:g.109494587C>T	ENSP00000257548:p.Arg62Cys		107978970	NM_032663	Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128988	0.77549	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393;ENST00000539121	T;T;T;T	0.37235	1.22;1.21;1.32;1.41	5.88	5.0	0.66597	.	0.256489	0.44285	D	0.000472	T	0.35480	0.0933	N	0.24115	0.695	0.46499	D	0.999075	D	0.76494	0.999	P	0.54706	0.759	T	0.16364	-1.0405	10	0.54805	T	0.06	-10.7143	9.2279	0.37418	0.0:0.837:0.0:0.163	.	62	Q70CQ3	UBP30_HUMAN	C	31;62;31;62;36	ENSP00000376535:R31C;ENSP00000257548:R62C;ENSP00000443678:R31C;ENSP00000440837:R36C	ENSP00000257548:R62C	R	+	1	0	USP30	107978970	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.401000	0.52601	1.484000	0.48361	0.655000	0.94253	CGT		0.423	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	
ACACB	32	broad.mit.edu	37	12	109679060	109679060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109679060G>T	ENST00000338432.7	+	36	5115	c.4996G>T	c.(4996-4998)Gaa>Taa	p.E1666*	ACACB_ENST00000377854.5_Nonsense_Mutation_p.E1596*|ACACB_ENST00000377848.3_Nonsense_Mutation_p.E1666*|ACACB_ENST00000543201.1_Nonsense_Mutation_p.E332*			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1666					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E1666*(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCTCTACAAAGAAGTGACTGA	0.542																																					p.E1666X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4996T	12						.						150.0	146.0	147.0					12																	109679060		2203	4300	6503	108163443	SO:0001587	stop_gained	32	exon35			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4996G>T	12.37:g.109679060G>T	ENSP00000341044:p.Glu1666*		108163443	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Nonsense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440083	0.97568	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	.	.	.	X	1666;1666;1596;897;332	.	ENSP00000341044:E1666X	E	+	1	0	ACACB	108163443	1.000000	0.71417	0.952000	0.39060	0.642000	0.38348	9.810000	0.99221	2.407000	0.81776	0.561000	0.74099	GAA		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
FOXN4	121643	broad.mit.edu	37	12	109719222	109719222	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109719222G>A	ENST00000299162.5	-	9	1388	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	FOXN4_ENST00000355216.1_Silent_p.F248F	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	428					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F428F(1)|p.F248F(1)		large_intestine(5)|lung(9)|ovary(2)	16						CCTGCAGAGCGAAGTCCATGA	0.607																																					p.F428F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1284T	12						.						72.0	71.0	71.0					12																	109719222		2203	4300	6503	108203605	SO:0001819	synonymous_variant	121643	exon9			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1284C>T	12.37:g.109719222G>A			108203605	NM_213596	Q6ZMR4|Q96NZ0	Silent	SNP	ENST00000299162.5	37	CCDS9126.2																																																																																				0.607	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
MYO1H	283446	broad.mit.edu	37	12	109834299	109834299	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109834299T>G	ENST00000431443.2	+	3	353	c.353T>G	c.(352-354)aTt>aGt	p.I118S	MYO1H_ENST00000310903.5_Missense_Mutation_p.I118S	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	118	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I118S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCCAAGAAAATTCTCGAGTAT	0.493																																					p.I118S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T353G	12						.						67.0	68.0	68.0					12																	109834299		1882	4112	5994	108318682	SO:0001583	missense	283446	exon3				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.353T>G	12.37:g.109834299T>G	ENSP00000444076:p.Ile118Ser		108318682	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	T	22.6	4.312306	0.81358	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.89746	-2.56;-2.56	4.8	4.8	0.61643	.	.	.	.	.	D	0.95456	0.8524	H	0.95645	3.7	0.49798	D	0.999821	D	0.67145	0.996	P	0.61397	0.888	D	0.96711	0.9525	9	0.87932	D	0	.	14.2704	0.66149	0.0:0.0:0.0:1.0	.	118	F5H3C6	.	S	118	ENSP00000439182:I118S;ENSP00000444076:I118S	ENSP00000439182:I118S	I	+	2	0	MYO1H	108318682	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.945000	0.87732	2.112000	0.64535	0.524000	0.50904	ATT		0.493	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
MYO1H	283446	broad.mit.edu	37	12	109883334	109883334	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109883334A>C	ENST00000431443.2	+	30	2992	c.2992A>C	c.(2992-2994)Agt>Cgt	p.S998R	RP11-256L11.3_ENST00000539987.1_RNA|MYO1H_ENST00000310903.5_Missense_Mutation_p.S988R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	998	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S988R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTTTTTTATTAGTCCGGGAAA	0.348																																					p.S988R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2962C	12						.						129.0	122.0	124.0					12																	109883334		1830	4082	5912	108367717	SO:0001583	missense	283446	exon30				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2992A>C	12.37:g.109883334A>C	ENSP00000444076:p.Ser998Arg		108367717	NM_001101421	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	A	15.96	2.987274	0.53934	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.35048	1.33;1.33	5.97	3.64	0.41730	Myosin tail 2 (1);	.	.	.	.	T	0.22704	0.0548	L	0.27053	0.805	0.27651	N	0.947393	B;B	0.25169	0.119;0.098	B;B	0.27715	0.082;0.03	T	0.24333	-1.0163	9	0.16420	T	0.52	.	6.1611	0.20364	0.752:0.0:0.248:0.0	.	998;988	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	R	988;998;179	ENSP00000439182:S988R;ENSP00000444076:S998R	ENSP00000439182:S988R	S	+	1	0	MYO1H	108367717	0.108000	0.22018	0.987000	0.45799	0.985000	0.73830	0.603000	0.24149	1.072000	0.40860	0.528000	0.53228	AGT		0.348	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
UBE3B	89910	broad.mit.edu	37	12	109935660	109935660	+	Missense_Mutation	SNP	C	C	T	rs200362048		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109935660C>T	ENST00000342494.3	+	10	1346	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	UBE3B_ENST00000280774.5_Missense_Mutation_p.R251W|UBE3B_ENST00000434735.2_Missense_Mutation_p.R251W	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	251					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R251W(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAATCTGATTCGGCCGTTCCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18849	0.001		0.0	False		,,,				2504	0.0				p.R251W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751T	12						.						252.0	191.0	212.0					12																	109935660		2203	4300	6503	108420043	SO:0001583	missense	89910	exon10			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.751C>T	12.37:g.109935660C>T	ENSP00000340596:p.Arg251Trp		108420043	NM_130466	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.97	3.924522	0.73213	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.46819	1.19;0.86;1.45;1.19	5.95	5.05	0.67936	.	0.099482	0.64402	D	0.000003	T	0.44265	0.1285	L	0.57536	1.79	0.58432	D	0.999995	P	0.49185	0.92	B	0.38712	0.28	T	0.51585	-0.8687	10	0.72032	D	0.01	-20.4626	13.9029	0.63817	0.2908:0.7092:0.0:0.0	.	251	Q7Z3V4	UBE3B_HUMAN	W	251	ENSP00000391529:R251W;ENSP00000280774:R251W;ENSP00000443131:R251W;ENSP00000340596:R251W	ENSP00000280774:R251W	R	+	1	2	UBE3B	108420043	0.850000	0.29656	0.761000	0.31378	0.964000	0.63967	1.184000	0.32053	1.486000	0.48398	0.585000	0.79938	CGG		0.512	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
UBE3B	89910	broad.mit.edu	37	12	109947484	109947484	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109947484C>A	ENST00000342494.3	+	16	2301	c.1706C>A	c.(1705-1707)tCt>tAt	p.S569Y	UBE3B_ENST00000280774.5_Missense_Mutation_p.S569Y|UBE3B_ENST00000434735.2_Missense_Mutation_p.S569Y|UBE3B_ENST00000535900.1_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	569					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S569Y(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCCTGAATTCTTTTGTGTTT	0.403																																					p.S569Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1706A	12						.						164.0	151.0	155.0					12																	109947484		2203	4300	6503	108431867	SO:0001583	missense	89910	exon16			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1706C>A	12.37:g.109947484C>A	ENSP00000340596:p.Ser569Tyr		108431867	NM_130466	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316185	0.81469	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.44881	1.22;0.91;1.49;1.22	5.81	4.92	0.64577	.	0.263303	0.44483	D	0.000459	T	0.34803	0.0910	N	0.22421	0.69	0.49389	D	0.999788	B	0.21381	0.055	B	0.28849	0.095	T	0.14531	-1.0469	10	0.54805	T	0.06	-17.7548	15.868	0.79080	0.0:0.864:0.1359:0.0	.	569	Q7Z3V4	UBE3B_HUMAN	Y	569	ENSP00000391529:S569Y;ENSP00000280774:S569Y;ENSP00000443131:S569Y;ENSP00000340596:S569Y	ENSP00000280774:S569Y	S	+	2	0	UBE3B	108431867	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	4.649000	0.61433	1.463000	0.47967	-0.133000	0.14855	TCT		0.403	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
TAS2R7	50837	broad.mit.edu	37	12	10954720	10954720	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10954720C>A	ENST00000240687.2	-	1	506	c.450G>T	c.(448-450)gaG>gaT	p.E150D		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	150					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.E150D(1)		kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CGTTCAAATTCTCAGTGGCTG	0.423																																					p.E150D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G450T	12						.						106.0	98.0	101.0					12																	10954720		2203	4300	6503	10845987	SO:0001583	missense	50837	exon1			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.450G>T	12.37:g.10954720C>A	ENSP00000240687:p.Glu150Asp		10845987	NM_023919	Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.168365	0.01660	.	.	ENSG00000121377	ENST00000240687	T	0.37058	1.22	5.27	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.972564	0.08452	N	0.943826	T	0.30541	0.0768	L	0.47716	1.5	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.34329	-0.9833	10	0.12766	T	0.61	.	8.9883	0.36008	0.0:0.809:0.0:0.191	.	150	Q9NYW3	TA2R7_HUMAN	D	150	ENSP00000240687:E150D	ENSP00000240687:E150D	E	-	3	2	TAS2R7	10845987	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	-0.204000	0.09425	0.692000	0.31613	0.650000	0.86243	GAG		0.423	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1		
UBE3B	89910	broad.mit.edu	37	12	109964214	109964214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109964214G>T	ENST00000342494.3	+	24	3215	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	UBE3B_ENST00000434735.2_Nonsense_Mutation_p.E874*	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	874	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E874*(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTTACAAATGAAAATAAGTG	0.393																																					p.E874X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2620T	12						.						105.0	101.0	103.0					12																	109964214		2203	4300	6503	108448597	SO:0001587	stop_gained	89910	exon24			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2620G>T	12.37:g.109964214G>T	ENSP00000340596:p.Glu874*		108448597	NM_130466	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Nonsense_Mutation	SNP	ENST00000342494.3	37	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	50	16.147771	0.99855	.	.	ENSG00000151148	ENST00000434735;ENST00000342494;ENST00000538070	.	.	.	5.71	5.71	0.89125	.	0.045759	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.7963	18.828	0.92125	0.0:0.0:1.0:0.0	.	.	.	.	X	874;874;169	.	ENSP00000340596:E874X	E	+	1	0	UBE3B	108448597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.697000	0.92050	0.655000	0.94253	GAA		0.393	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
TAS2R9	50835	broad.mit.edu	37	12	10962478	10962478	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10962478C>A	ENST00000240691.2	-	1	289	c.197G>T	c.(196-198)gGc>gTc	p.G66V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	66					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.G66V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATAAAGAAGCCATCTAATGA	0.403																																					p.G66V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197T	12						.						105.0	101.0	102.0					12																	10962478		2203	4300	6503	10853745	SO:0001583	missense	50835	exon1			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.197G>T	12.37:g.10962478C>A	ENSP00000240691:p.Gly66Val		10853745	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037904	0.54896	.	.	ENSG00000121381	ENST00000240691	T	0.35236	1.32	4.66	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.317042	0.24107	U	0.041481	T	0.41834	0.1176	M	0.70842	2.15	0.31320	N	0.686175	P	0.44309	0.832	P	0.47346	0.544	T	0.49390	-0.8945	10	0.37606	T	0.19	.	8.1749	0.31276	0.1792:0.6474:0.1734:0.0	.	66	Q9NYW1	TA2R9_HUMAN	V	66	ENSP00000240691:G66V	ENSP00000240691:G66V	G	-	2	0	TAS2R9	10853745	0.000000	0.05858	0.281000	0.24762	0.520000	0.34377	-1.121000	0.03270	1.052000	0.40392	0.585000	0.79938	GGC		0.403	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1		
TAS2R10	50839	broad.mit.edu	37	12	10978744	10978744	+	Missense_Mutation	SNP	G	G	A	rs371389147		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:10978744G>A	ENST00000240619.2	-	1	213	c.125C>T	c.(124-126)aCg>aTg	p.T42M		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	42					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T42M(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAAGCCAATCGTAGATAACTT	0.328																																					p.T42M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125T	12						.	G	MET/THR	0,4406		0,0,2203	71.0	66.0	68.0		125	-4.3	0.0	12		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R10	NM_023921.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	42/308	10978744	1,13005	2203	4300	6503	10870011	SO:0001583	missense	50839	exon1			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.125C>T	12.37:g.10978744G>A	ENSP00000240619:p.Thr42Met		10870011	NM_023921	Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	G	2.031	-0.422409	0.04734	0.0	1.16E-4	ENSG00000121318	ENST00000240619	T	0.38077	1.16	4.34	-4.28	0.03732	.	1.601890	0.05141	N	0.494339	T	0.25419	0.0618	L	0.31157	0.91	0.09310	N	1	B	0.33379	0.41	B	0.29524	0.103	T	0.32188	-0.9916	10	0.44086	T	0.13	.	12.0872	0.53704	0.3995:0.0:0.6005:0.0	.	42	Q9NYW0	T2R10_HUMAN	M	42	ENSP00000240619:T42M	ENSP00000240619:T42M	T	-	2	0	TAS2R10	10870011	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.476000	0.06591	-0.560000	0.06102	-0.423000	0.05987	ACG		0.328	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
MMAB	326625	broad.mit.edu	37	12	109994869	109994869	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:109994869C>A	ENST00000545712.2	-	9	1110	c.717G>T	c.(715-717)atG>atT	p.M239I	MMAB_ENST00000540016.1_Missense_Mutation_p.M187I|MMAB_ENST00000266839.5_Missense_Mutation_p.M148I	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	239			M -> K (common polymorphism; dbSNP:rs9593). {ECO:0000269|PubMed:12471062, ECO:0000269|PubMed:12514191, ECO:0000269|PubMed:15489334}.		cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.M239I(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTCATTTTTCATGTATATTT	0.517																																					p.M239I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G717T	12						.						124.0	110.0	114.0					12																	109994869		2203	4300	6503	108479252	SO:0001583	missense	326625	exon9			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.717G>T	12.37:g.109994869C>A	ENSP00000445920:p.Met239Ile		108479252	NM_052845	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076185	0.20227	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.89343	-2.5;-2.42	5.43	4.53	0.55603	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);	0.390145	0.26616	N	0.023396	T	0.71204	0.3312	N	0.01779	-0.725	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.60566	-0.7238	10	0.38643	T	0.18	-9.3558	8.9329	0.35682	0.0:0.8374:0.0:0.1626	.	239	Q96EY8	MMAB_HUMAN	I	239;148	ENSP00000445920:M239I;ENSP00000266839:M148I	ENSP00000266839:M148I	M	-	3	0	MMAB	108479252	0.973000	0.33851	0.987000	0.45799	0.216000	0.24613	1.017000	0.29989	2.527000	0.85204	0.561000	0.74099	ATG		0.517	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2		
TRPV4	59341	broad.mit.edu	37	12	110230181	110230181	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110230181G>T	ENST00000418703.2	-	11	1972	c.1878C>A	c.(1876-1878)atC>atA	p.I626I	TRPV4_ENST00000541794.1_Silent_p.I579I|TRPV4_ENST00000392719.2_Silent_p.I579I|TRPV4_ENST00000537083.1_Silent_p.I566I|TRPV4_ENST00000346520.2_Silent_p.I566I|TRPV4_ENST00000536838.1_Silent_p.I592I|TRPV4_ENST00000261740.2_Silent_p.I626I|TRPV4_ENST00000544971.1_Silent_p.I519I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	626					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.I626I(3)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAGCGTAGCCGATCATGAAGA	0.532																																					p.I626I												.	.	3	Substitution - coding silent(3)	skin(2)|large_intestine(1)	c.C1878A	12						.						69.0	67.0	67.0					12																	110230181		2203	4300	6503	108714564	SO:0001819	synonymous_variant	59341	exon12			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1878C>A	12.37:g.110230181G>T			108714564	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																				0.532	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
GIT2	9815	broad.mit.edu	37	12	110370842	110370842	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110370842C>T	ENST00000355312.3	-	20	2220	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	GIT2_ENST00000338373.5_Missense_Mutation_p.D643N|GIT2_ENST00000551209.1_Missense_Mutation_p.D690N|GIT2_ENST00000361006.5_Missense_Mutation_p.D711N|GIT2_ENST00000553118.1_Missense_Mutation_p.D613N|GIT2_ENST00000356259.4_Missense_Mutation_p.D628N|GIT2_ENST00000548655.1_5'Flank|GIT2_ENST00000343646.5_Missense_Mutation_p.D631N|GIT2_ENST00000354574.4_Missense_Mutation_p.D663N|GIT2_ENST00000457474.2_Missense_Mutation_p.D663N|GIT2_ENST00000360185.4_Missense_Mutation_p.D691N	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	741					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.D741N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGCGATGTCGTACGCACAC	0.572																																					p.D711N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2131A	12						.						162.0	135.0	144.0					12																	110370842		2203	4300	6503	108855225	SO:0001583	missense	9815	exon19			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.2221G>A	12.37:g.110370842C>T	ENSP00000347464:p.Asp741Asn		108855225	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.124210	0.97305	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209	T;T;T;T;T;T;T;T;T;T	0.80909	-1.18;-1.4;-1.16;-1.07;-1.3;-1.02;-1.12;-1.12;-1.18;-1.43	5.53	5.53	0.82687	G protein-coupled receptor kinase-interacting protein 1 C term (1);	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	M	0.81942	2.565	0.45330	D	0.998326	D;D;D;D;D	0.89917	0.998;0.989;1.0;0.991;0.977	D;D;D;D;P	0.85130	0.969;0.969;0.997;0.963;0.866	D	0.91207	0.4996	10	0.72032	D	0.01	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	663;663;613;741;711	Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;GIT2_HUMAN;.	N	741;691;663;643;631;628;663;711;613;690	ENSP00000347464:D741N;ENSP00000353312:D691N;ENSP00000346585:D663N;ENSP00000340342:D643N;ENSP00000340938:D631N;ENSP00000348595:D628N;ENSP00000391813:D663N;ENSP00000354282:D711N;ENSP00000447465:D613N;ENSP00000448832:D690N	ENSP00000340342:D643N	D	-	1	0	GIT2	108855225	1.000000	0.71417	0.971000	0.41717	0.981000	0.71138	7.818000	0.86416	2.593000	0.87608	0.455000	0.32223	GAC		0.572	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
GIT2	9815	broad.mit.edu	37	12	110377017	110377017	+	Silent	SNP	C	C	T	rs541055586		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110377017C>T	ENST00000355312.3	-	17	1766	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	GIT2_ENST00000338373.5_Silent_p.E491E|GIT2_ENST00000551209.1_Silent_p.E538E|GIT2_ENST00000361006.5_Silent_p.E559E|GIT2_ENST00000553118.1_Silent_p.E461E|GIT2_ENST00000356259.4_Silent_p.E476E|GIT2_ENST00000548655.1_5'UTR|GIT2_ENST00000343646.5_Silent_p.E479E|GIT2_ENST00000354574.4_Silent_p.E511E|GIT2_ENST00000457474.2_Silent_p.E511E|GIT2_ENST00000360185.4_Silent_p.E539E|TCHP_ENST00000550780.1_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	589					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.E589E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CGTAGTCACTCTCAGGTGTGC	0.567																																					p.E559E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1677A	12						.						300.0	237.0	259.0					12																	110377017		2203	4300	6503	108861400	SO:0001819	synonymous_variant	9815	exon16			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1767G>A	12.37:g.110377017C>T			108861400	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	CCDS9138.1																																																																																				0.567	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
ANKRD13A	88455	broad.mit.edu	37	12	110449927	110449927	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110449927C>T	ENST00000261739.4	+	2	380	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	72						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.R72C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAGAAAATCGCCAGGGATG	0.408																																					p.R72C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C214T	12						.						78.0	73.0	75.0					12																	110449927		2203	4300	6503	108934310	SO:0001583	missense	88455	exon2			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.214C>T	12.37:g.110449927C>T	ENSP00000261739:p.Arg72Cys		108934310	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390313	0.25118	.	.	ENSG00000076513	ENST00000261739	T	0.65178	-0.14	6.17	-0.492	0.12041	Ankyrin repeat-containing domain (3);	0.601650	0.18704	N	0.133517	T	0.51635	0.1686	L	0.49640	1.575	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.45220	-0.9276	10	0.52906	T	0.07	9.9977	9.9583	0.41680	0.09:0.3437:0.5042:0.0621	.	72;72;72	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	C	72	ENSP00000261739:R72C	ENSP00000261739:R72C	R	+	1	0	ANKRD13A	108934310	0.038000	0.19896	0.017000	0.16124	0.949000	0.60115	0.488000	0.22371	-0.368000	0.08040	0.655000	0.94253	CGC		0.408	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ANKRD13A	88455	broad.mit.edu	37	12	110461908	110461908	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110461908C>T	ENST00000261739.4	+	7	958	c.792C>T	c.(790-792)taC>taT	p.Y264Y		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	264						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.Y264Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTAATGGTTACGAAGCAAAGG	0.343																																					p.Y264Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	12						.						164.0	181.0	175.0					12																	110461908		2203	4300	6503	108946291	SO:0001819	synonymous_variant	88455	exon7			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.792C>T	12.37:g.110461908C>T			108946291	NM_033121	O60736	Silent	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825125	0.16678	.	.	ENSG00000076513	ENST00000547639	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	T	0.60805	0.2297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	-23.4219	8.9076	0.35532	0.0:0.8439:0.0:0.1561	.	.	.	.	M	118	.	.	T	+	2	0	ANKRD13A	108946291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.697000	0.47060	2.878000	0.98634	0.650000	0.86243	ACG		0.343	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ANKRD13A	88455	broad.mit.edu	37	12	110471670	110471670	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110471670G>T	ENST00000261739.4	+	13	1583	c.1417G>T	c.(1417-1419)Gac>Tac	p.D473Y	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	473						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.D473Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTATGTTCAAGACAATGGCAG	0.438																																					p.D473Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417T	12						.						181.0	162.0	168.0					12																	110471670		2203	4300	6503	108956053	SO:0001583	missense	88455	exon13			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1417G>T	12.37:g.110471670G>T	ENSP00000261739:p.Asp473Tyr		108956053	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	37	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320690	0.95682	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000547419;ENST00000553251;ENST00000549826	T	0.57907	0.37	5.63	5.63	0.86233	.	0.141387	0.64402	D	0.000004	T	0.68732	0.3033	M	0.68317	2.08	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.981	P;P;P	0.58721	0.832;0.844;0.656	T	0.71454	-0.4588	10	0.87932	D	0	-2.4762	18.6977	0.91607	0.0:0.0:1.0:0.0	.	472;219;473	B4DYP5;E9PGV0;Q8IZ07	.;.;AN13A_HUMAN	Y	219;473;111;111;111	ENSP00000261739:D473Y	ENSP00000261738:D219Y	D	+	1	0	ANKRD13A	108956053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.335000	0.65929	2.652000	0.90054	0.655000	0.94253	GAC		0.438	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
C12orf76	400073	broad.mit.edu	37	12	110495068	110495069	+	Missense_Mutation	DNP	CC	CC	TA	rs142398265		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110495068_110495069CC>TA	ENST00000309050.5	-	4	588_589	c.224_225GG>TA	c.(223-225)aGG>aTA	p.R75I	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000548191.1_Intron	NM_207435.1	NP_997318.1	Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	75								p.R75>?(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						GGAGGATGTGCCTTTCAGCAAA	0.495																																					.												.	.	1	Complex(1)	large_intestine(1)	c.224_225TA	12						.																																			108979452	SO:0001583	missense	400073	exon4			BC041968	CCDS9141.1	12q24.11	2012-08-16			ENSG00000174456	ENSG00000174456			33790	protein-coding gene	gene with protein product							Standard	NM_207435		Approved	FLJ40142	uc001tqe.2	Q8N812	OTTHUMG00000169315	ENST00000309050.5:c.224_225delinsTA	12.37:g.110495068_110495069delinsTA	ENSP00000308368:p.Arg75Ile		108979451	NM_207435		Missense_Mutation	DNP	ENST00000309050.5	37	CCDS9141.1																																																																																				0.495	C12orf76-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403439.2	NM_207435	
ATP2A2	488	broad.mit.edu	37	12	110783824	110783824	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110783824C>A	ENST00000539276.2	+	19	2869	c.2760C>A	c.(2758-2760)tcC>tcA	p.S920S	ATP2A2_ENST00000395494.2_Silent_p.S893S|ATP2A2_ENST00000308664.6_Silent_p.S920S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	920			S -> Y (in DD; mild/moderate/severe form; one patient with epilepsy).		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S920S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAAACCAGTCCTTGCTGAGGA	0.577																																					p.S920S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2760A	12						.						178.0	138.0	152.0					12																	110783824		2203	4300	6503	109268207	SO:0001819	synonymous_variant	488	exon19				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2760C>A	12.37:g.110783824C>A			109268207	NM_170665	A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	3.938	-0.014842	0.07681	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.17	2.12	0.27331	.	.	.	.	.	T	0.51500	0.1678	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39603	-0.9606	4	.	.	.	.	4.6528	0.12603	0.2295:0.5093:0.0:0.2612	.	.	.	.	I	811	.	.	L	+	1	0	ATP2A2	109268207	0.352000	0.24895	0.981000	0.43875	0.998000	0.95712	0.128000	0.15810	0.464000	0.27142	0.655000	0.94253	CTT		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
FAM216A	29902	broad.mit.edu	37	12	110924385	110924385	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110924385G>T	ENST00000377673.5	+	5	995	c.483G>T	c.(481-483)caG>caT	p.Q161H		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	161								p.Q161H(1)									GTTACTCACAGAAACAGCATT	0.473																																					p.Q161H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G483T	12						.						162.0	168.0	166.0					12																	110924385		2203	4300	6503	109408768	SO:0001583	missense	29902	exon5			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.483G>T	12.37:g.110924385G>T	ENSP00000366901:p.Gln161His		109408768	NM_013300	A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058642	0.55325	.	.	ENSG00000204856	ENST00000377673;ENST00000538285;ENST00000548869	T	0.56611	0.45	3.9	3.01	0.34805	.	0.215935	0.23644	N	0.045995	T	0.56124	0.1964	L	0.56769	1.78	0.80722	D	1	P;P;P	0.52061	0.828;0.95;0.899	P;P;P	0.52881	0.474;0.712;0.571	T	0.57347	-0.7827	10	0.66056	D	0.02	-4.7572	7.6795	0.28505	0.1179:0.0:0.8821:0.0	.	161;161;161	B4DJX7;F5GZE4;Q8WUB2	.;.;CL024_HUMAN	H	161;161;67	ENSP00000366901:Q161H	ENSP00000366901:Q161H	Q	+	3	2	C12orf24	109408768	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	1.299000	0.33424	0.976000	0.38417	0.467000	0.42956	CAG		0.473	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300	
VPS29	51699	broad.mit.edu	37	12	110933823	110933823	+	Silent	SNP	G	G	A	rs369133923		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110933823G>A	ENST00000549578.1	-	2	254	c.189C>T	c.(187-189)ttC>ttT	p.F63F	VPS29_ENST00000546588.1_Silent_p.F95F|SNORD50_ENST00000365465.1_RNA|VPS29_ENST00000360579.7_Silent_p.F67F|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000551655.1_5'Flank|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000552130.2_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	63					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)	p.F63F(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCACCTCATCGAAGTCTCCTC	0.393																																					p.F63F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C189T	12						.	G	,	0,3790		0,0,1895	143.0	127.0	132.0		189,201	-5.0	0.9	12		132	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	VPS29	NM_016226.3,NM_057180.1	,	0,1,6016	AA,AG,GG		0.0121,0.0,0.0083	,	63/183,67/187	110933823	1,12033	1895	4122	6017	109418206	SO:0001819	synonymous_variant	51699	exon2			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.189C>T	12.37:g.110933823G>A			109418206	NM_016226	Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Silent	SNP	ENST00000549578.1	37	CCDS41832.1	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039560	0.19669	0.0	1.21E-4	ENSG00000111237	ENST00000360579	.	.	.	5.91	-4.98	0.03019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.4894	16.464	0.84073	0.8487:0.0:0.1513:0.0	.	.	.	.	X	80	.	.	R	-	1	2	VPS29	109418206	0.989000	0.36119	0.854000	0.33618	0.971000	0.66376	0.430000	0.21428	-0.888000	0.03956	-0.793000	0.03317	CGA		0.393	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1		
RAD9B	144715	broad.mit.edu	37	12	110950593	110950593	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110950593G>T	ENST00000392672.4	+	5	497	c.398G>T	c.(397-399)aGa>aTa	p.R133I	RAD9B_ENST00000409246.1_Missense_Mutation_p.R61I|RAD9B_ENST00000409300.1_Missense_Mutation_p.R133I|RAD9B_ENST00000409425.1_Missense_Mutation_p.R61I|RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000433301.1_Intron	NM_152442.3	NP_689655.3	Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	130					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)		p.R133I(1)		endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GGTATTAAAAGAACTCATAAT	0.269											OREG0022115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R133I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398T	12						.						74.0	62.0	66.0					12																	110950593		692	1588	2280	109434976	SO:0001583	missense	144715	exon5				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000392672.4:c.398G>T	12.37:g.110950593G>T	ENSP00000376440:p.Arg133Ile	1431	109434976	NM_152442	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000392672.4	37	CCDS9148.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116992	0.77323	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.74	-1.13	0.09775	.	0.228599	0.42172	D	0.000741	T	0.30885	0.0779	L	0.46157	1.445	0.53688	D	0.999971	P;P	0.52316	0.952;0.952	P;P	0.54815	0.761;0.761	T	0.07908	-1.0748	10	0.87932	D	0	-8.0762	9.9589	0.41684	0.7247:0.0:0.2753:0.0	.	133;130	B4DX60;Q6WBX8	.;RAD9B_HUMAN	I	61;133;133;61	ENSP00000387329:R61I;ENSP00000376440:R133I;ENSP00000386434:R133I;ENSP00000386629:R61I	ENSP00000376440:R133I	R	+	2	0	RAD9B	109434976	1.000000	0.71417	0.740000	0.30986	0.967000	0.64934	1.697000	0.37784	-0.095000	0.12351	0.542000	0.68232	AGA		0.269	RAD9B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328756.2	NM_152442	
RAD9B	144715	broad.mit.edu	37	12	110956536	110956536	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110956536C>A	ENST00000409778.3	+	5	468	c.444C>A	c.(442-444)ttC>ttA	p.F148L	RAD9B_ENST00000409246.1_Missense_Mutation_p.F145L|RAD9B_ENST00000409300.1_Missense_Mutation_p.F217L|RAD9B_ENST00000409425.1_Missense_Mutation_p.F145L|RAD9B_ENST00000392672.4_Missense_Mutation_p.F217L			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	168					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)		p.F217L(1)|p.F59L(1)		endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGTTTGACTTCTTTCAAATTG	0.289																																					p.F217L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C651A	12						.						82.0	82.0	82.0					12																	110956536		2203	4299	6502	109440919	SO:0001583	missense	144715	exon7				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.444C>A	12.37:g.110956536C>A	ENSP00000386697:p.Phe148Leu		109440919	NM_152442	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37		.	.	.	.	.	.	.	.	.	.	C	13.61	2.289485	0.40494	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.77	4.88	0.63580	.	0.187707	0.47455	D	0.000221	T	0.17704	0.0425	L	0.43152	1.355	0.28873	N	0.894843	B;B;B	0.18166	0.026;0.001;0.001	B;B;B	0.18561	0.022;0.004;0.007	T	0.11421	-1.0588	9	.	.	.	-5.9168	10.0966	0.42480	0.0:0.8455:0.0:0.1545	.	148;217;214	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	L	145;217;217;145;148	ENSP00000387329:F145L;ENSP00000376440:F217L;ENSP00000386434:F217L;ENSP00000386629:F145L;ENSP00000386697:F148L	.	F	+	3	2	RAD9B	109440919	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	2.398000	0.44486	1.435000	0.47434	0.460000	0.39030	TTC		0.289	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1	NM_152442	
PPTC7	160760	broad.mit.edu	37	12	110969393	110969393	+	3'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110969393G>T	ENST00000354300.3	-	0	6652				RAD9B_ENST00000409246.1_3'UTR|RAD9B_ENST00000409300.1_3'UTR|RAD9B_ENST00000409425.1_3'UTR|RAD9B_ENST00000409778.3_Missense_Mutation_p.K311N|RAD9B_ENST00000392672.4_Nonsense_Mutation_p.E417*	NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E417*(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CTGCAGGAAAGAATTTAATGG	0.348																																					p.E417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1249T	12						.						97.0	84.0	88.0					12																	110969393		1568	3582	5150	109453776	SO:0001624	3_prime_UTR_variant	144715	exon12			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.*5449C>A	12.37:g.110969393G>T			109453776	NM_152442	B3KWC5|Q68DZ7|Q6UY82	Nonsense_Mutation	SNP	ENST00000354300.3	37	CCDS9149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.96|13.96	2.392638|2.392638	0.42410|0.42410	.|.	.|.	ENSG00000151164|ENSG00000151164	ENST00000392672|ENST00000409778	.|T	.|0.19669	.|2.13	4.43|4.43	-5.49|-5.49	0.02584|0.02584	.|.	102.590000|.	0.04352|.	U|.	0.355933|.	.|T	.|0.11793	.|0.0287	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	.|T	.|0.31138	.|-0.9954	.|8	0.39692|0.62326	T|D	0.17|0.03	9.7323|9.7323	4.3078|4.3078	0.10956|0.10956	0.3114:0.0:0.2117:0.4769|0.3114:0.0:0.2117:0.4769	.|.	.|311	.|B4DYM6	.|.	X|N	417|311	.|ENSP00000386697:K311N	ENSP00000376440:E417X|ENSP00000386697:K311N	E|K	+|+	1|3	0|2	RAD9B|RAD9B	109453776|109453776	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.340000|0.340000	0.28889|0.28889	-0.801000|-0.801000	0.04550|0.04550	-1.396000|-1.396000	0.02071|0.02071	-1.853000|-1.853000	0.00566|0.00566	GAA|AAG		0.348	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283	
TAS2R13	50838	broad.mit.edu	37	12	11061085	11061085	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:11061085G>T	ENST00000390677.2	-	1	1076	c.813C>A	c.(811-813)gtC>gtA	p.V271V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	271					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V271V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAGGAGAGAAGACTCCAATCG	0.408																																					p.V271V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813A	12						.						86.0	78.0	81.0					12																	11061085		2203	4300	6503	10952352	SO:0001819	synonymous_variant	50838	exon1			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.813C>A	12.37:g.11061085G>T			10952352	NM_023920	Q4G0I5|Q502V8|Q645X2	Silent	SNP	ENST00000390677.2	37	CCDS8635.1																																																																																				0.408	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1		
PPTC7	160760	broad.mit.edu	37	12	110989718	110989718	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:110989718G>T	ENST00000354300.3	-	2	567	c.279C>A	c.(277-279)ttC>ttA	p.F93L		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	93	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.F93L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGTCCCTGAGAATTGAGATG	0.423																																					p.F93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C279A	12						.						104.0	93.0	97.0					12																	110989718		2203	4300	6503	109474101	SO:0001583	missense	160760	exon2			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.279C>A	12.37:g.110989718G>T	ENSP00000346255:p.Phe93Leu		109474101	NM_139283	B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	ENST00000354300.3	37	CCDS9149.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868619	0.91587	.	.	ENSG00000196850	ENST00000354300	.	.	.	5.96	5.96	0.96718	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78804	-0.2060	9	0.72032	D	0.01	-15.9739	13.5885	0.61946	0.0707:0.0:0.9293:0.0	.	93	Q8NI37	PPTC7_HUMAN	L	93	.	ENSP00000346255:F93L	F	-	3	2	PPTC7	109474101	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.586000	0.60984	2.814000	0.96858	0.655000	0.94253	TTC		0.423	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404635.1	NM_139283	
PPP1CC	5501	broad.mit.edu	37	12	111160414	111160414	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:111160414G>T	ENST00000335007.5	-	5	800	c.610C>A	c.(610-612)Ctt>Att	p.L204I	PPP1CC_ENST00000546933.1_Missense_Mutation_p.L213I|PPP1CC_ENST00000550991.1_Missense_Mutation_p.L204I|PPP1CC_ENST00000340766.5_Missense_Mutation_p.L204I|PPP1CC_ENST00000551676.1_Missense_Mutation_p.L204I	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	204					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)	p.L204I(1)		central_nervous_system(1)|large_intestine(2)|lung(3)	6						GACCACAAAAGATCACAAAGA	0.433																																					p.L204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C610A	12						.						108.0	101.0	103.0					12																	111160414		2203	4300	6503	109644797	SO:0001583	missense	5501	exon5				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.610C>A	12.37:g.111160414G>T	ENSP00000335084:p.Leu204Ile		109644797	NM_002710		Missense_Mutation	SNP	ENST00000335007.5	37	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550252	0.65311	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000550261;ENST00000553024;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;3.09	5.79	5.79	0.91817	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.116023	0.64402	N	0.000017	T	0.63319	0.2501	M	0.73217	2.22	0.50313	D	0.999868	B	0.31274	0.317	P	0.44447	0.45	T	0.64765	-0.6330	10	0.72032	D	0.01	-4.7656	13.5916	0.61964	0.071:0.0:0.929:0.0	.	204	P36873	PP1G_HUMAN	I	204;204;63;22;213;204;204	ENSP00000335084:L204I;ENSP00000341779:L204I;ENSP00000447122:L213I;ENSP00000448981:L204I;ENSP00000448437:L204I	ENSP00000335084:L204I	L	-	1	0	PPP1CC	109644797	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.108000	0.50337	2.899000	0.99337	0.655000	0.94253	CTT		0.433	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1		
CCDC63	160762	broad.mit.edu	37	12	111342432	111342432	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:111342432G>T	ENST00000308208.5	+	11	1625	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CCDC63_ENST00000545036.1_Missense_Mutation_p.E421D|CCDC63_ENST00000552694.1_Missense_Mutation_p.E382D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	461								p.E461D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGCTGTTGGAGACCTACAGGC	0.597																																					p.E461D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1383T	12						.						82.0	80.0	81.0					12																	111342432		2203	4300	6503	109826815	SO:0001583	missense	160762	exon11			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1383G>T	12.37:g.111342432G>T	ENSP00000312399:p.Glu461Asp		109826815	NM_152591	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	g	16.16	3.045192	0.55110	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.33654	1.41;1.4;1.41	4.99	1.57	0.23409	.	0.112392	0.64402	D	0.000013	T	0.51278	0.1665	M	0.77820	2.39	0.18873	N	0.999982	D	0.76494	0.999	D	0.73380	0.98	T	0.31943	-0.9925	10	0.30854	T	0.27	.	5.6415	0.17567	0.4065:0.0:0.5935:0.0	.	461	Q8NA47	CCD63_HUMAN	D	421;461;382	ENSP00000445881:E421D;ENSP00000312399:E461D;ENSP00000450217:E382D	ENSP00000312399:E461D	E	+	3	2	CCDC63	109826815	0.914000	0.31030	0.128000	0.21923	0.114000	0.19823	0.756000	0.26419	0.629000	0.30376	-0.238000	0.12139	GAG		0.597	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
CUX2	23316	broad.mit.edu	37	12	111742014	111742014	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:111742014C>T	ENST00000261726.6	+	10	908	c.754C>T	c.(754-756)Cga>Tga	p.R252*	AC002979.1_ENST00000408459.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	252					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R252*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTCTCCCCAGCGAGCTGAGGC	0.657																																					p.R252X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C754T	12						.						26.0	32.0	30.0					12																	111742014		2036	4181	6217	110226397	SO:0001630	splice_region_variant	23316	exon10			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.754-1C>T	12.37:g.111742014C>T			110226397	NM_015267	A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	37	5.987049	0.97173	.	.	ENSG00000111249	ENST00000261726	.	.	.	4.79	1.27	0.21489	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2961	13.9261	0.63964	0.5615:0.4385:0.0:0.0	.	.	.	.	X	252	.	.	R	+	1	2	CUX2	110226397	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.481000	0.45215	0.523000	0.28482	0.460000	0.39030	CGA		0.657	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	Nonsense_Mutation
TAS2R20	259295	broad.mit.edu	37	12	11150221	11150221	+	Missense_Mutation	SNP	G	G	T	rs193920802		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:11150221G>T	ENST00000538986.1	-	1	253	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	85					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S85Y(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCAGGCATTAGAAATAAAAAT	0.348																																					p.S85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254A	12						.						47.0	52.0	51.0					12																	11150221		2186	4292	6478	11041488	SO:0001583	missense	259295	exon1			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.254C>A	12.37:g.11150221G>T	ENSP00000441624:p.Ser85Tyr		11041488	NM_176889	P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.811001	0.00074	.	.	ENSG00000255837	ENST00000538986	T	0.37752	1.18	2.77	-5.53	0.02552	.	3.284530	0.02183	U	0.060660	T	0.13798	0.0334	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.33343	-0.9872	10	0.02654	T	1	.	1.2232	0.01928	0.2429:0.1958:0.3836:0.1777	.	85	P59543	T2R20_HUMAN	Y	85	ENSP00000441624:S85Y	ENSP00000441624:S85Y	S	-	2	0	TAS2R20	11041488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.480000	0.02325	-2.954000	0.00292	-0.282000	0.10007	TCT		0.348	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889	
CUX2	23316	broad.mit.edu	37	12	111779793	111779793	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:111779793G>A	ENST00000261726.6	+	21	3749	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1199					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.E1199K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGACCATCGAGCTCCTCTC	0.612																																					p.E1199K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3595A	12						.						64.0	78.0	73.0					12																	111779793		2195	4300	6495	110264176	SO:0001583	missense	23316	exon21			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3595G>A	12.37:g.111779793G>A	ENSP00000261726:p.Glu1199Lys		110264176	NM_015267	A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556105	0.96514	.	.	ENSG00000111249	ENST00000261726	D	0.96554	-4.05	5.1	5.1	0.69264	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	L	0.57536	1.79	0.80722	D	1	P	0.44690	0.841	P	0.53689	0.732	D	0.96079	0.9052	10	0.34782	T	0.22	-29.9019	18.528	0.90980	0.0:0.0:1.0:0.0	.	1199	O14529	CUX2_HUMAN	K	1199	ENSP00000261726:E1199K	ENSP00000261726:E1199K	E	+	1	0	CUX2	110264176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.787000	0.99055	2.377000	0.81083	0.462000	0.41574	GAG		0.612	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
ATXN2	6311	broad.mit.edu	37	12	111951295	111951295	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:111951295C>A	ENST00000377617.3	-	11	2065	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	ATXN2_ENST00000608853.1_Missense_Mutation_p.R475I|ATXN2_ENST00000535949.1_Missense_Mutation_p.R346I|ATXN2_ENST00000389153.4_Missense_Mutation_p.R370I|ATXN2_ENST00000542287.2_Missense_Mutation_p.R370I|ATXN2_ENST00000550104.1_Missense_Mutation_p.R635I	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	635	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.R635I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAGAAACTCTGTGATTTCG	0.498																																					p.R635I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1904T	12						.						78.0	68.0	72.0					12																	111951295		2203	4300	6503	110435678	SO:0001583	missense	6311	exon11			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1904G>T	12.37:g.111951295C>A	ENSP00000366843:p.Arg635Ile		110435678	NM_002973	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.209665|5.209665	0.95069|0.95069	.|.	.|.	ENSG00000204842|ENSG00000204842	ENST00000481331|ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000550236	.|T;T	.|0.72394	.|-0.51;-0.65	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77611	.|0.4156	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.995;0.999	.|D;D;D;D	.|0.85130	.|0.991;0.991;0.986;0.997	.|T	.|0.79024	.|-0.1972	.|10	0.87932|0.54805	D|T	0|0.06	-10.9441|-10.9441	19.4538|19.4538	0.94878|0.94878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|370;635;346;370	.|B3KT59;Q99700;Q24JQ7;F8VQP2	.|.;ATX2_HUMAN;.;.	X|I	19|370;635;635;370;346;25;50	.|ENSP00000366843:R635I;ENSP00000446576:R635I	ENSP00000449850:E19X|ENSP00000366843:R635I	E|R	-|-	1|2	0|0	ATXN2|ATXN2	110435678|110435678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.733000|5.733000	0.68571|0.68571	2.604000|2.604000	0.88044|0.88044	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.498	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
BRAP	8315	broad.mit.edu	37	12	112093396	112093396	+	Missense_Mutation	SNP	G	G	A	rs377591727		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112093396G>A	ENST00000327551.6	-	10	1335	c.1195C>T	c.(1195-1197)Cgg>Tgg	p.R399W	BRAP_ENST00000539060.1_Missense_Mutation_p.R250W|BRAP_ENST00000419234.4_Missense_Mutation_p.R429W			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R429W(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TTCTCTATCCGAACTATCTTG	0.443																																					p.R429W	Pancreas(146;846 1904 7830 25130 26065)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1285T	12						.						202.0	164.0	177.0					12																	112093396		2203	4300	6503	110577779	SO:0001583	missense	8315	exon10			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1195C>T	12.37:g.112093396G>A	ENSP00000330813:p.Arg399Trp		110577779	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37		.	.	.	.	.	.	.	.	.	.	G	25.3	4.621825	0.87460	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.49432	0.78;0.8;0.79	5.16	4.26	0.50523	.	0.162750	0.56097	D	0.000036	T	0.61763	0.2373	M	0.78916	2.43	0.58432	D	0.999997	P;D	0.69078	0.946;0.997	B;P	0.53313	0.18;0.723	T	0.69401	-0.5155	10	0.87932	D	0	-15.2067	15.0653	0.71989	0.0:0.0:0.857:0.143	.	250;429	B4DRM1;Q7Z569	.;BRAP_HUMAN	W	429;250;399;211	ENSP00000403524:R429W;ENSP00000441659:R250W;ENSP00000330813:R399W	ENSP00000330813:R399W	R	-	1	2	BRAP	110577779	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.317000	0.79018	1.157000	0.42530	0.561000	0.74099	CGG		0.443	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2		
ACAD10	80724	broad.mit.edu	37	12	112167698	112167698	+	Silent	SNP	C	C	T	rs540444011	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112167698C>T	ENST00000313698.4	+	10	1487	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	ACAD10_ENST00000392636.2_Silent_p.I46I|ACAD10_ENST00000455480.2_Silent_p.I475I|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.I444I	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	444						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.I444I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGAGGCTGATCGAATGGCTGC	0.557																																					p.I444I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1332T	12						.						71.0	60.0	64.0					12																	112167698		2203	4300	6503	110652081	SO:0001819	synonymous_variant	80724	exon10			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1332C>T	12.37:g.112167698C>T			110652081	NM_025247	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.557	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
TMEM116	89894	broad.mit.edu	37	12	112375047	112375047	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112375047G>T	ENST00000550831.3	-	6	458	c.90C>A	c.(88-90)agC>agA	p.S30R	TMEM116_ENST00000552374.2_Splice_Site_p.S122R|TMEM116_ENST00000354825.3_Splice_Site_p.S30R|TMEM116_ENST00000355445.3_Splice_Site_p.S87R|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000437003.2_Splice_Site_p.S30R	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	30						integral component of membrane (GO:0016021)		p.S30R(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GAGGTATCAGGCTGGGAGGGA	0.408																																					p.S30R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C90A	12						.						102.0	99.0	100.0					12																	112375047		2203	4300	6503	110859430	SO:0001630	splice_region_variant	89894	exon6			AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.90-1C>A	12.37:g.112375047G>T			110859430	NM_138341	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	g	16.18	3.050587	0.55218	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037	T;T;T;T;T;T	0.40225	1.21;1.21;1.21;1.21;1.21;1.04	4.9	3.05	0.35203	.	0.054274	0.64402	D	0.000001	T	0.54095	0.1837	L	0.59436	1.845	0.39796	D	0.9725	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.85130	0.996;0.974;0.997;0.974	T	0.52011	-0.8632	10	0.31617	T	0.26	.	8.2608	0.31783	0.2556:0.0:0.7444:0.0	.	122;87;122;30	F8VNZ8;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	R	87;30;30;30;122;122	ENSP00000347620:S87R;ENSP00000346883:S30R;ENSP00000450377:S30R;ENSP00000395861:S30R;ENSP00000447731:S122R;ENSP00000446516:S122R	ENSP00000346883:S30R	S	-	3	2	TMEM116	110859430	1.000000	0.71417	0.990000	0.47175	0.821000	0.46438	2.130000	0.42064	1.075000	0.40932	0.467000	0.42956	AGC		0.408	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341	Missense_Mutation
TMEM116	89894	broad.mit.edu	37	12	112375987	112375987	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112375987G>T	ENST00000550831.3	-	5	435	c.67C>A	c.(67-69)Caa>Aaa	p.Q23K	TMEM116_ENST00000552374.2_Missense_Mutation_p.Q115K|TMEM116_ENST00000354825.3_Missense_Mutation_p.Q23K|TMEM116_ENST00000355445.3_Missense_Mutation_p.Q80K|TMEM116_ENST00000549537.2_5'UTR|TMEM116_ENST00000437003.2_Missense_Mutation_p.Q23K	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	23						integral component of membrane (GO:0016021)		p.Q23K(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						AAGGCCATTTGACAAACTCGA	0.333																																					p.Q23K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C67A	12						.						76.0	78.0	77.0					12																	112375987		2203	4300	6503	110860370	SO:0001583	missense	89894	exon5			AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.67C>A	12.37:g.112375987G>T	ENSP00000450377:p.Gln23Lys		110860370	NM_138341	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Missense_Mutation	SNP	ENST00000550831.3	37	CCDS9157.1	.	.	.	.	.	.	.	.	.	.	g	13.96	2.391542	0.42410	.	.	ENSG00000198270	ENST00000355445;ENST00000354825;ENST00000550831;ENST00000437003;ENST00000552374;ENST00000550037	T;T;T;T;T;T	0.42131	1.34;1.34;1.34;1.34;1.34;0.98	5.65	2.41	0.29592	.	0.437844	0.22605	N	0.057917	T	0.24044	0.0582	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.17268	0.021;0.001;0.005;0.005	B;B;B;B	0.15484	0.013;0.001;0.002;0.002	T	0.09100	-1.0690	10	0.15066	T	0.55	0.3337	3.8787	0.09068	0.2033:0.0:0.6064:0.1903	.	115;80;115;23	F8VNZ8;G5E985;G3V1W7;Q8NCL8	.;.;.;TM116_HUMAN	K	80;23;23;23;115;115	ENSP00000347620:Q80K;ENSP00000346883:Q23K;ENSP00000450377:Q23K;ENSP00000395861:Q23K;ENSP00000447731:Q115K;ENSP00000446516:Q115K	ENSP00000346883:Q23K	Q	-	1	0	TMEM116	110860370	0.995000	0.38212	0.804000	0.32291	0.758000	0.43043	1.152000	0.31663	1.375000	0.46248	0.467000	0.42956	CAA		0.333	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341	
TAS2R46	259292	broad.mit.edu	37	12	11214292	11214292	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:11214292G>T	ENST00000533467.1	-	1	601	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	201					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S201Y(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTACACAGAGAACAGATTAA	0.428																																					p.S201Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C602A	12						.						176.0	181.0	179.0					12																	11214292		2203	4299	6502	11105559	SO:0001583	missense	259292	exon1			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.602C>A	12.37:g.11214292G>T	ENSP00000436450:p.Ser201Tyr		11105559	NM_176887	P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821386	0.32237	.	.	ENSG00000226761	ENST00000533467	T	0.01629	4.72	2.54	1.62	0.23740	.	.	.	.	.	T	0.15003	0.0362	H	0.97587	4.035	0.22066	N	0.99938	D	0.89917	1.0	D	0.79108	0.992	T	0.05053	-1.0909	9	0.87932	D	0	.	7.0832	0.25244	0.1496:0.0:0.8504:0.0	.	201	P59540	T2R46_HUMAN	Y	201	ENSP00000436450:S201Y	ENSP00000436450:S201Y	S	-	2	0	TAS2R46	11105559	0.626000	0.27120	0.130000	0.21974	0.015000	0.08874	2.100000	0.41777	0.411000	0.25702	0.194000	0.17425	TCT		0.428	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887	
NAA25	80018	broad.mit.edu	37	12	112486159	112486159	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112486159G>T	ENST00000261745.4	-	16	2065	c.1817C>A	c.(1816-1818)tCt>tAt	p.S606Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	606						cytoplasm (GO:0005737)		p.S606Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAAATGAAGAGAATTATTCAG	0.373																																					p.S606Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1817A	12						.						119.0	111.0	114.0					12																	112486159		2203	4300	6503	110970542	SO:0001583	missense	80018	exon16			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1817C>A	12.37:g.112486159G>T	ENSP00000261745:p.Ser606Tyr		110970542	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375120	0.82682	.	.	ENSG00000111300	ENST00000261745	T	0.72615	-0.67	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.86628	0.5978	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88211	0.2890	10	0.87932	D	0	-12.1628	19.584	0.95484	0.0:0.0:1.0:0.0	.	606;606	A8K8X0;Q14CX7	.;NAA25_HUMAN	Y	606	ENSP00000261745:S606Y	ENSP00000261745:S606Y	S	-	2	0	NAA25	110970542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.604000	0.88044	0.655000	0.94253	TCT		0.373	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
TRAFD1	10906	broad.mit.edu	37	12	112578959	112578959	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112578959G>T	ENST00000257604.5	+	5	1191	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	TRAFD1_ENST00000412615.2_Missense_Mutation_p.D192Y	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	192					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.D192Y(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTTTGAATCAGATGTTTTCCA	0.473																																					p.D192Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574T	12						.						49.0	48.0	48.0					12																	112578959		2203	4300	6503	111063342	SO:0001583	missense	10906	exon5			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.574G>T	12.37:g.112578959G>T	ENSP00000257604:p.Asp192Tyr		111063342	NM_006700	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958393	0.53400	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896	T;T;T	0.03212	4.01;4.01;4.01	5.2	5.2	0.72013	.	0.695263	0.14601	N	0.309604	T	0.10680	0.0261	L	0.57536	1.79	0.25380	N	0.98862	P;D	0.54964	0.904;0.969	P;P	0.51135	0.66;0.563	T	0.03068	-1.1076	10	0.66056	D	0.02	-12.0598	16.4935	0.84208	0.0:0.0:1.0:0.0	.	192;192	F8VNX8;O14545	.;TRAD1_HUMAN	Y	192	ENSP00000396526:D192Y;ENSP00000257604:D192Y;ENSP00000450357:D192Y	ENSP00000257604:D192Y	D	+	1	0	TRAFD1	111063342	0.890000	0.30428	0.187000	0.23214	0.683000	0.39861	5.182000	0.65059	2.812000	0.96745	0.563000	0.77884	GAT		0.473	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	
HECTD4	283450	broad.mit.edu	37	12	112654696	112654696	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112654696G>A	ENST00000430131.2	-	46	7145	c.6000C>T	c.(5998-6000)atC>atT	p.I2000I	HECTD4_ENST00000377560.5_Silent_p.I2250I|HECTD4_ENST00000550722.1_Silent_p.I2276I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2000					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I2000I(1)|p.I2250I(1)									CATAGGAAACGATTTCAATTT	0.493																																					p.I2250I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6750T	12						.						82.0	79.0	80.0					12																	112654696		1881	4119	6000	111139079	SO:0001819	synonymous_variant	283450	exon46			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6000C>T	12.37:g.112654696G>A			111139079	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	7.712	0.695384	0.15106	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.81	-2.65	0.06095	.	.	.	.	.	T	0.38295	0.1035	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	1.042	0.01561	0.2983:0.095:0.2412:0.3655	.	.	.	.	L	167	.	.	S	-	2	0	C12orf51	111139079	0.993000	0.37304	0.975000	0.42487	0.753000	0.42808	0.467000	0.22035	-0.331000	0.08501	-1.707000	0.00718	TCG		0.493	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
HECTD4	283450	broad.mit.edu	37	12	112684854	112684854	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112684854G>T	ENST00000430131.2	-	28	4243	c.3098C>A	c.(3097-3099)tCt>tAt	p.S1033Y	HECTD4_ENST00000377560.5_Missense_Mutation_p.S1283Y|HECTD4_ENST00000550722.1_Missense_Mutation_p.S1309Y			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1033					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S1033Y(1)|p.S1283Y(1)									CTGAATAAGAGAATTCACTTC	0.393																																					p.S1283Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3848A	12						.						70.0	66.0	67.0					12																	112684854		1844	4084	5928	111169237	SO:0001583	missense	283450	exon28			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3098C>A	12.37:g.112684854G>T	ENSP00000404379:p.Ser1033Tyr		111169237	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	17.00	3.276361	0.59649	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.51817	0.69;0.69;0.69	5.72	5.72	0.89469	.	.	.	.	.	T	0.39036	0.1063	N	0.19112	0.55	0.54753	D	0.999983	P	0.41041	0.736	B	0.38712	0.28	T	0.40997	-0.9533	9	0.87932	D	0	.	19.8937	0.96942	0.0:0.0:1.0:0.0	.	1033	Q9Y4D8	K0614_HUMAN	Y	1283;1033;1309	ENSP00000366783:S1283Y;ENSP00000404379:S1033Y;ENSP00000449784:S1309Y	ENSP00000366783:S1283Y	S	-	2	0	C12orf51	111169237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.545000	0.60698	2.716000	0.92895	0.650000	0.86243	TCT		0.393	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
RPL6	6128	broad.mit.edu	37	12	112843733	112843733	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112843733G>A	ENST00000424576.2	-	6	823	c.638C>T	c.(637-639)aCt>aTt	p.T213I	RPL6_ENST00000202773.9_Missense_Mutation_p.T213I	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	213					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.T213I(1)		cervix(1)|large_intestine(6)|lung(3)	10						GTAAGCATCAGTAAGATGTTT	0.418																																					p.T213I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638T	12						.						64.0	67.0	66.0					12																	112843733		2203	4297	6500	111328116	SO:0001583	missense	6128	exon6			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.638C>T	12.37:g.112843733G>A	ENSP00000403172:p.Thr213Ile		111328116	NM_001024662	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494199	0.64186	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.33654	1.4;1.4	5.05	4.15	0.48705	Translation protein SH3-like, subgroup (1);	0.092162	0.64402	D	0.000001	T	0.54711	0.1875	M	0.89785	3.06	0.34808	D	0.737478	P	0.45715	0.865	P	0.48089	0.566	T	0.74383	-0.3683	10	0.72032	D	0.01	.	13.3275	0.60467	0.0:0.0:0.7129:0.2871	.	213	Q02878	RL6_HUMAN	I	213;213;153	ENSP00000202773:T213I;ENSP00000403172:T213I	ENSP00000202773:T213I	T	-	2	0	RPL6	111328116	1.000000	0.71417	0.889000	0.34880	0.966000	0.64601	3.079000	0.50104	1.097000	0.41459	0.591000	0.81541	ACT		0.418	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1		
PTPN11	5781	broad.mit.edu	37	12	112942550	112942550	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:112942550G>T	ENST00000351677.2	+	15	1962	c.1764G>T	c.(1762-1764)caG>caT	p.Q588H		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	592					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.Q588H(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGATGCAACAGCAGAAAAGTT	0.368			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																												p.Q588H			Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1764T	12						.						55.0	51.0	52.0					12																	112942550		2203	4300	6503	111426933	SO:0001583	missense	5781	exon15	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1764G>T	12.37:g.112942550G>T	ENSP00000340944:p.Gln588His		111426933	NM_002834	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583432	0.86748	.	.	ENSG00000179295	ENST00000351677	T	0.10668	2.85	5.65	5.65	0.86999	.	0.059730	0.64402	D	0.000002	T	0.15349	0.0370	N	0.08118	0	0.80722	D	1	D	0.60575	0.988	D	0.72338	0.977	T	0.15321	-1.0441	10	0.66056	D	0.02	.	12.9894	0.58610	0.0736:0.0:0.9264:0.0	.	588	Q06124-2	.	H	588	ENSP00000340944:Q588H	ENSP00000340944:Q588H	Q	+	3	2	PTPN11	111426933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.620000	0.67736	2.647000	0.89833	0.650000	0.86243	CAG		0.368	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
RPH3A	22895	broad.mit.edu	37	12	113327845	113327845	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113327845C>T	ENST00000389385.4	+	18	2077	c.1580C>T	c.(1579-1581)aCc>aTc	p.T527I	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.T527I|RPH3A_ENST00000415485.3_Missense_Mutation_p.T527I|RPH3A_ENST00000548866.1_Missense_Mutation_p.T478I|RPH3A_ENST00000551052.1_Missense_Mutation_p.T523I|RPH3A_ENST00000447659.2_Missense_Mutation_p.T478I|RPH3A_ENST00000420983.2_Missense_Mutation_p.T527I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	527					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.T523I(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CGTGCTGGGACCACCGGGTCA	0.493																																					p.T523I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1568T	12						.						186.0	191.0	189.0					12																	113327845		2203	4300	6503	111812228	SO:0001583	missense	22895	exon17			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1580C>T	12.37:g.113327845C>T	ENSP00000374036:p.Thr527Ile		111812228	NM_014954	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628341	0.28978	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.62788	0.01;0.01;0.01;0.01;0.01;0.0;0.01	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000006	T	0.58595	0.2133	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.31680	0.335;0.23;0.23;0.335	B;B;B;B	0.32022	0.139;0.085;0.085;0.139	T	0.58607	-0.7607	10	0.44086	T	0.13	.	18.0793	0.89438	0.0:1.0:0.0:0.0	.	478;527;527;523	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	I	527;527;478;523;527;478;527;179	ENSP00000440384:T527I;ENSP00000374036:T527I;ENSP00000413254:T478I;ENSP00000448297:T523I;ENSP00000405357:T527I;ENSP00000450347:T478I;ENSP00000408889:T527I	ENSP00000374036:T527I	T	+	2	0	RPH3A	111812228	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	4.376000	0.59556	2.625000	0.88918	0.655000	0.94253	ACC		0.493	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
OAS3	4940	broad.mit.edu	37	12	113398993	113398993	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113398993A>G	ENST00000228928.7	+	8	1954	c.1775A>G	c.(1774-1776)aAc>aGc	p.N592S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	592	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.N592S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AACTTCATGAACATTCGCCCT	0.582																																					p.N592S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1775G	12						.						60.0	63.0	62.0					12																	113398993		2026	4191	6217	111883376	SO:0001583	missense	4940	exon8			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1775A>G	12.37:g.113398993A>G	ENSP00000228928:p.Asn592Ser		111883376	NM_006187	Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804246	0.50315	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.08193	3.12	4.64	3.51	0.40186	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.21962	0.0529	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.00626	-1.1638	9	0.44086	T	0.13	.	6.7037	0.23238	0.8928:0.0:0.1072:0.0	.	592	Q9Y6K5	OAS3_HUMAN	S	592;591	ENSP00000228928:N592S	ENSP00000228928:N592S	N	+	2	0	OAS3	111883376	0.005000	0.15991	0.945000	0.38365	0.548000	0.35241	1.151000	0.31651	0.813000	0.34350	0.533000	0.62120	AAC		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
OAS2	4939	broad.mit.edu	37	12	113446959	113446959	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113446959C>A	ENST00000342315.4	+	10	2177	c.1963C>A	c.(1963-1965)Ctt>Att	p.L655I	OAS2_ENST00000392583.2_Missense_Mutation_p.L655I|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	655	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.L655I(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTGTTGGCATCTTCTGGCAAA	0.512																																					p.L655I	Pancreas(199;709 2232 18410 33584 35052)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1963A	12						.						260.0	245.0	250.0					12																	113446959		2203	4300	6503	111931342	SO:0001583	missense	4939	exon10			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1963C>A	12.37:g.113446959C>A	ENSP00000342278:p.Leu655Ile		111931342	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851884	0.51270	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.46063	0.88;0.88	4.39	1.38	0.22167	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.33235	N	0.005127	T	0.46833	0.1413	L	0.56199	1.76	0.09310	N	1	D;D	0.63046	0.992;0.99	P;P	0.61477	0.889;0.822	T	0.22800	-1.0206	10	0.42905	T	0.14	-27.2982	3.7912	0.08721	0.1909:0.5973:0.0:0.2118	.	655;655	P29728;P29728-2	OAS2_HUMAN;.	I	655	ENSP00000342278:L655I;ENSP00000376362:L655I	ENSP00000342278:L655I	L	+	1	0	OAS2	111931342	0.043000	0.20138	0.388000	0.26195	0.884000	0.51177	1.296000	0.33389	0.484000	0.27630	0.655000	0.94253	CTT		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
RASAL1	8437	broad.mit.edu	37	12	113556972	113556972	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113556972C>A	ENST00000261729.5	-	8	918	c.603G>T	c.(601-603)tgG>tgT	p.W201C	RASAL1_ENST00000548055.1_Missense_Mutation_p.W201C|RASAL1_ENST00000546530.1_Missense_Mutation_p.W201C|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.W201C			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	201	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.W201C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGTCCCAGTCCCAGAGCTCCA	0.607																																					p.W201C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G603T	12						.						104.0	91.0	95.0					12																	113556972		2203	4300	6503	112041355	SO:0001583	missense	8437	exon8			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.603G>T	12.37:g.113556972C>A	ENSP00000261729:p.Trp201Cys		112041355	NM_004658	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527331	0.85706	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.55	5.55	0.83447	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062215	0.64402	D	0.000002	D	0.90672	0.7074	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;0.981;0.998;1.0	D;D;D;D;P;D;D	0.83275	0.974;0.974;0.956;0.974;0.905;0.98;0.996	D	0.91646	0.5331	10	0.87932	D	0	.	18.2814	0.90099	0.0:1.0:0.0:0.0	.	201;201;201;213;201;201;201	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	C	201	ENSP00000450244:W201C;ENSP00000261729:W201C;ENSP00000395920:W201C;ENSP00000448510:W201C	ENSP00000261729:W201C	W	-	3	0	RASAL1	112041355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.389000	0.79806	2.627000	0.88993	0.561000	0.74099	TGG		0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
RITA1	84934	broad.mit.edu	37	12	113629616	113629616	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113629616G>T	ENST00000548278.1	+	4	1496	c.804G>T	c.(802-804)tgG>tgT	p.W268C	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.W292C|C12orf52_ENST00000549621.1_Missense_Mutation_p.W268C	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		268	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)	p.W268C(1)		large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AGCCCCCTTGGAAATGATACT	0.592																																					p.W268C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G804T	12						.						38.0	42.0	41.0					12																	113629616		2200	4297	6497	112113999	SO:0001583	missense	84934	exon4																														ENST00000548278.1:c.804G>T	12.37:g.113629616G>T	ENSP00000449841:p.Trp268Cys		112113999	NM_032848	B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	ENST00000548278.1	37	CCDS9166.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242252	0.58995	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000266813	T;T;T	0.60299	0.33;0.33;0.2	4.65	4.65	0.58169	.	0.378754	0.20555	N	0.090025	T	0.72961	0.3526	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75379	-0.3338	10	0.87932	D	0	-9.6299	12.8999	0.58119	0.0:0.0:1.0:0.0	.	292;268	F8VRG5;Q96K30	.;RITA_HUMAN	C	268;268;292;268;265	ENSP00000448289:W268C;ENSP00000449841:W268C;ENSP00000448680:W292C	ENSP00000266813:W265C	W	+	3	0	C12orf52	112113999	1.000000	0.71417	0.988000	0.46212	0.719000	0.41307	5.019000	0.64060	2.404000	0.81709	0.655000	0.94253	TGG		0.592	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1		
IQCD	115811	broad.mit.edu	37	12	113645763	113645763	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113645763G>A	ENST00000416617.2	-	2	399	c.209C>T	c.(208-210)tCg>tTg	p.S70L	IQCD_ENST00000546692.1_Missense_Mutation_p.S70L|IQCD_ENST00000299732.2_Missense_Mutation_p.S70L			Q96DY2	IQCD_HUMAN	IQ motif containing D	70								p.S70L(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TGCCACATACGACAGCAAGGT	0.537																																					p.S70L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C209T	12						.						264.0	221.0	236.0					12																	113645763		2203	4300	6503	112130146	SO:0001583	missense	115811	exon2			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.209C>T	12.37:g.113645763G>A	ENSP00000400669:p.Ser70Leu		112130146	NM_138451	Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37		.	.	.	.	.	.	.	.	.	.	G	8.148	0.786769	0.16189	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09538	2.97;2.97;2.97	4.58	2.63	0.31362	.	0.530546	0.17771	N	0.162586	T	0.26122	0.0637	M	0.69823	2.125	0.09310	N	0.999996	D;D	0.89917	1.0;0.996	D;P	0.67900	0.954;0.707	T	0.03576	-1.1023	10	0.42905	T	0.14	-1.6489	8.6645	0.34112	0.0:0.3143:0.5238:0.1619	.	70;70	F8VZV9;Q96DY2-2	.;.	L	70	ENSP00000299732:S70L;ENSP00000400669:S70L;ENSP00000446623:S70L	ENSP00000299732:S70L	S	-	2	0	IQCD	112130146	0.983000	0.35010	0.178000	0.23040	0.046000	0.14306	2.216000	0.42871	0.488000	0.27723	0.563000	0.77884	TCG		0.537	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451	
TPCN1	53373	broad.mit.edu	37	12	113698285	113698285	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:113698285A>C	ENST00000335509.6	+	3	539	c.225A>C	c.(223-225)gcA>gcC	p.A75A	TPCN1_ENST00000550785.1_Silent_p.A147A|TPCN1_ENST00000541517.1_Silent_p.A147A|TPCN1_ENST00000392569.4_Silent_p.A7A	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	75					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.A75A(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AAGAGGCAGCAATCTACCTCC	0.587																																					p.A75A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225C	12						.						52.0	50.0	51.0					12																	113698285		2203	4300	6503	112182668	SO:0001819	synonymous_variant	53373	exon3			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.225A>C	12.37:g.113698285A>C			112182668	NM_017901	A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1																																																																																				0.587	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901	
PRB4	5545	broad.mit.edu	37	12	11462308	11462308	+	Silent	SNP	T	T	G	rs376674559		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:11462308T>G	ENST00000535904.1	-	2	129	c.96A>C	c.(94-96)atA>atC	p.I32I	PRB4_ENST00000445719.2_Silent_p.I32I|PRB4_ENST00000279575.1_Silent_p.I32I			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	32				LIS -> PPP (in Ref. 6; AAB50687). {ECO:0000305}.|LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence). {ECO:0000305}.		extracellular region (GO:0005576)		p.I32I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATTTACCTGATATTAGGAAGA	0.378										HNSCC(22;0.051)																											p.I32I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A96C	12						.						169.0	146.0	154.0					12																	11462308		2203	4300	6503	11353575	SO:0001819	synonymous_variant	5545	exon2				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.96A>C	12.37:g.11462308T>G			11353575	NM_002723	A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	CCDS8641.1																																																																																				0.378	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723	
TBX5	6910	broad.mit.edu	37	12	114841671	114841671	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:114841671C>T	ENST00000310346.4	-	2	699	c.33G>A	c.(31-33)gcG>gcA	p.A11A	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.A11A|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Silent_p.A11A	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	11				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A11A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGGCGTGTGCGCCAGGCCAA	0.697																																					p.A11A	NSCLC(152;1358 1980 4050 23898 40356)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G33A	12						.						25.0	30.0	28.0					12																	114841671		2202	4299	6501	113326054	SO:0001819	synonymous_variant	6910	exon2			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.33G>A	12.37:g.114841671C>T			113326054	NM_000192	A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	CCDS9173.1																																																																																				0.697	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
TBX3	6926	broad.mit.edu	37	12	115120687	115120687	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:115120687G>T	ENST00000257566.3	-	1	708	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	TBX3_ENST00000349155.2_Missense_Mutation_p.L107M	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	107					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L107M(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TTAGCCTCCAGGTGCACCTTG	0.602																																					p.L107M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C319A	12						.						48.0	50.0	50.0					12																	115120687		2203	4300	6503	113605070	SO:0001583	missense	6926	exon1			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.319C>A	12.37:g.115120687G>T	ENSP00000257566:p.Leu107Met		113605070	NM_005996	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838926	0.71373	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.93859	-3.3;-3.3	5.32	5.32	0.75619	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	H	0.98833	4.345	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.99795	1.1033	10	0.87932	D	0	.	19.0084	0.92861	0.0:0.0:1.0:0.0	.	107;107;107	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	M	107	ENSP00000257567:L107M;ENSP00000257566:L107M	ENSP00000257566:L107M	L	-	1	2	TBX3	113605070	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.486000	0.60286	2.489000	0.83994	0.655000	0.94253	CTG		0.602	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
MED13L	23389	broad.mit.edu	37	12	116446735	116446735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:116446735C>T	ENST00000281928.3	-	10	1689	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	495						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E495K(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATAATTCTTCGGCCACAGAG	0.453																																					p.E495K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1483A	12						.						197.0	187.0	191.0					12																	116446735		2203	4300	6503	114931118	SO:0001583	missense	23389	exon10			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1483G>A	12.37:g.116446735C>T	ENSP00000281928:p.Glu495Lys		114931118	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664949	0.47572	.	.	ENSG00000123066	ENST00000281928	T	0.75477	-0.94	5.76	5.76	0.90799	.	0.281278	0.41194	D	0.000928	T	0.67822	0.2934	L	0.53249	1.67	0.36414	D	0.863906	B	0.23806	0.091	B	0.17098	0.017	T	0.66630	-0.5875	10	0.20519	T	0.43	.	13.2077	0.59807	0.0:0.9274:0.0:0.0726	.	495	Q71F56	MD13L_HUMAN	K	495	ENSP00000281928:E495K	ENSP00000281928:E495K	E	-	1	0	MED13L	114931118	0.999000	0.42202	0.993000	0.49108	0.869000	0.49853	3.893000	0.56243	2.732000	0.93576	0.655000	0.94253	GAA		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
MED13L	23389	broad.mit.edu	37	12	116457644	116457644	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:116457644C>T	ENST00000281928.3	-	6	965	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	253						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S253S(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTCCTCTTTCGATTCTTCTT	0.398																																					p.S253S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G759A	12						.						180.0	163.0	169.0					12																	116457644		2203	4300	6503	114942027	SO:0001819	synonymous_variant	23389	exon6			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.759G>A	12.37:g.116457644C>T			114942027	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	CCDS9177.1																																																																																				0.398	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
FBXW8	26259	broad.mit.edu	37	12	117365904	117365904	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117365904A>G	ENST00000309909.5	+	2	477	c.395A>G	c.(394-396)gAc>gGc	p.D132G	FBXW8_ENST00000455858.2_Missense_Mutation_p.D66G			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	132	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)		p.D132G(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CAGTATCTGGACAGGAAAGAA	0.383																																					p.D132G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A395G	12						.						113.0	103.0	106.0					12																	117365904		2203	4300	6503	115850287	SO:0001583	missense	26259	exon2			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.395A>G	12.37:g.117365904A>G	ENSP00000310686:p.Asp132Gly		115850287	NM_153348	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	A	8.460	0.855141	0.17106	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.28666	1.6;1.6	5.73	0.915	0.19366	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.685741	0.14579	N	0.311010	T	0.22627	0.0546	L	0.48174	1.505	0.25367	N	0.988731	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.25813	-1.0121	10	0.17832	T	0.49	-6.8055	8.4099	0.32638	0.5964:0.0:0.4036:0.0	.	132;66	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	G	132;66;66	ENSP00000310686:D132G;ENSP00000389144:D66G	ENSP00000310686:D132G	D	+	2	0	FBXW8	115850287	0.996000	0.38824	0.915000	0.36163	0.994000	0.84299	0.618000	0.24373	0.448000	0.26722	0.454000	0.30748	GAC		0.383	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174	
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117494618C>T	ENST00000335209.7	-	3	388	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_ENST00000535198.1_5'Flank|TESC_ENST00000392545.4_Missense_Mutation_p.D121N|TESC_ENST00000541210.1_Intron			Q96BS2	CHP3_HUMAN	tescalcin	68					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517																																					p.D68N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G202A	12						.						150.0	116.0	127.0					12																	117494618		2203	4300	6503	115979001	SO:0001583	missense	54997	exon3			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.202G>A	12.37:g.117494618C>T	ENSP00000334785:p.Asp68Asn		115979001	NM_017899	F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892513	0.91889	.	.	ENSG00000088992	ENST00000335209;ENST00000392545	T;T	0.54479	0.57;0.57	5.17	5.17	0.71159	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.72626	-0.4236	10	0.33940	T	0.23	-48.5903	17.4632	0.87625	0.0:1.0:0.0:0.0	.	68	Q96BS2	TESC_HUMAN	N	68;121	ENSP00000334785:D68N;ENSP00000376328:D121N	ENSP00000334785:D68N	D	-	1	0	TESC	115979001	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.745000	0.68672	2.401000	0.81631	0.655000	0.94253	GAC		0.517	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899	
FBXO21	23014	broad.mit.edu	37	12	117627100	117627100	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117627100G>A	ENST00000330622.5	-	2	306	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	FBXO21_ENST00000427718.2_Missense_Mutation_p.R103W|FBXO21_ENST00000549689.1_5'Flank			O94952	FBX21_HUMAN	F-box protein 21	103					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.R103W(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTTTTGCCGAACTTTATAC	0.478																																					p.R103W	GBM(168;452 2038 13535 17701 43680)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	12						.						173.0	160.0	164.0					12																	117627100		2203	4300	6503	116111483	SO:0001583	missense	23014	exon2			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.307C>T	12.37:g.117627100G>A	ENSP00000328187:p.Arg103Trp		116111483	NM_015002	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.176842|5.176842	0.94846|0.94846	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.23147|.	1.92;1.92|.	4.95|4.95	4.95|4.95	0.65309|0.65309	F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74268|0.74268	0.3694|0.3694	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.985;1.0|.	T|T	0.73811|0.73811	-0.3865|-0.3865	10|5	0.87932|.	D|.	0|.	-24.9799|-24.9799	18.144|18.144	0.89649|0.89649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	19;103;103|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	W|L	103;19;19;103|46	ENSP00000414468:R103W;ENSP00000328187:R103W|.	ENSP00000257563:R19W|.	R|S	-|-	1|2	2|0	FBXO21|FBXO21	116111483|116111483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.076000|5.076000	0.64413|0.64413	2.442000|2.442000	0.82660|0.82660	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624	
NOS1	4842	broad.mit.edu	37	12	117657968	117657968	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117657968G>A	ENST00000338101.4	-	27	4188	c.4184C>T	c.(4183-4185)gCt>gTt	p.A1395V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.A1361V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.A1361V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAGGACATCAGCAGCCATGGT	0.612																																					p.A1361V	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4082T	12						.						134.0	147.0	142.0					12																	117657968		2199	4295	6494	116142351	SO:0001583	missense	4842	exon27				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4184C>T	12.37:g.117657968G>A	ENSP00000337459:p.Ala1395Val		116142351	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264449	0.59431	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.86865	-2.18;-2.18	4.44	4.44	0.53790	Oxidoreductase FAD/NAD(P)-binding (1);	0.055324	0.64402	D	0.000001	T	0.80959	0.4724	L	0.40543	1.245	0.80722	D	1	P	0.34699	0.464	B	0.33846	0.171	T	0.79569	-0.1749	10	0.35671	T	0.21	-21.7721	11.8385	0.52340	0.0:0.3356:0.6644:0.0	.	1361	P29475	NOS1_HUMAN	V	1256;1361;1395	ENSP00000320758:A1361V;ENSP00000337459:A1395V	ENSP00000320758:A1361V	A	-	2	0	NOS1	116142351	1.000000	0.71417	0.925000	0.36789	0.948000	0.59901	6.681000	0.74523	2.310000	0.77875	0.561000	0.74099	GCT		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117672562	117672562	+	Splice_Site	SNP	G	G	A	rs565699307		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117672562G>A	ENST00000338101.4	-	21	3149	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Splice_Site_p.R1015W			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R1015W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATAGTTGACCGACTGCAGGAA	0.552																																					p.R1015W	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3043T	12						.						31.0	33.0	32.0					12																	117672562		2021	4188	6209	116156945	SO:0001630	splice_region_variant	4842	exon21				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3144-1C>T	12.37:g.117672562G>A			116156945	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377548	0.61735	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.78364	-1.17;-1.17	4.65	4.65	0.58169	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93812	0.7111	10	0.87932	D	0	-14.5882	18.067	0.89394	0.0:0.0:1.0:0.0	.	1015	P29475	NOS1_HUMAN	W	910;1015;1015;1049	ENSP00000320758:R1015W;ENSP00000337459:R1049W	ENSP00000320758:R1015W	R	-	1	2	NOS1	116156945	1.000000	0.71417	0.989000	0.46669	0.022000	0.10575	7.511000	0.81718	2.568000	0.86640	0.561000	0.74099	CGG		0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		Missense_Mutation
NOS1	4842	broad.mit.edu	37	12	117698402	117698402	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117698402G>T	ENST00000338101.4	-	13	2239	c.2235C>A	c.(2233-2235)ttC>ttA	p.F745L	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.F745L			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F745L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTTGGCCGAGAACTTGACAG	0.517																																					p.F745L	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2235A	12						.						71.0	69.0	70.0					12																	117698402		1934	4162	6096	116182785	SO:0001583	missense	4842	exon14				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2235C>A	12.37:g.117698402G>T	ENSP00000337459:p.Phe745Leu		116182785	NM_000620		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113672	0.56398	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01446	4.91;4.88	5.11	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.04048	0.0113	M	0.76002	2.32	0.80722	D	1	P	0.37824	0.609	B	0.40864	0.342	T	0.28004	-1.0057	10	0.66056	D	0.02	-32.7639	9.8821	0.41240	0.155:0.0:0.845:0.0	.	745	P29475	NOS1_HUMAN	L	640;745;745;745	ENSP00000320758:F745L;ENSP00000337459:F745L	ENSP00000320758:F745L	F	-	3	2	NOS1	116182785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.635000	0.46537	1.385000	0.46445	0.655000	0.94253	TTC		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117703130	117703130	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117703130G>A	ENST00000338101.4	-	11	2131	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.F709F			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F709F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCTGGTATTCGAAGGAGGGGG	0.557																																					p.F709F	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2127T	12						.						28.0	33.0	31.0					12																	117703130		2068	4238	6306	116187513	SO:0001819	synonymous_variant	4842	exon12				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2127C>T	12.37:g.117703130G>A			116187513	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117723132	117723132	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117723132G>A	ENST00000338101.4	-	6	1300	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.F432F			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.F432F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACGGGCATCGAATACCTGGA	0.552																																					p.F432F	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1296T	12						.						76.0	80.0	79.0					12																	117723132		2051	4200	6251	116207515	SO:0001819	synonymous_variant	4842	exon7				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1296C>T	12.37:g.117723132G>A			116207515	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.552	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
NOS1	4842	broad.mit.edu	37	12	117726001	117726001	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117726001G>T	ENST00000344089.3	-	6	1746	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	NOS1_ENST00000338101.4_Silent_p.I335I|NOS1_ENST00000317775.6_Silent_p.I335I	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.I335I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGCCCATGCAGATGTACTCAG	0.507																																					p.I335I	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005A	12						.						112.0	110.0	111.0					12																	117726001		1964	4157	6121	116210384	SO:0001583	missense	4842	exon5				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000344089.3:c.1061C>A	12.37:g.117726001G>T	ENSP00000339862:p.Ser354Tyr		116210384	NM_000620		Silent	SNP	ENST00000344089.3	37		.	.	.	.	.	.	.	.	.	.	G	14.76	2.631664	0.46944	.	.	ENSG00000089250	ENST00000344089	T	0.08008	3.14	5.93	4.09	0.47781	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.25252	N	0.989661	.	.	.	.	.	.	T	0.10847	-1.0612	6	0.87932	D	0	-28.8057	8.7034	0.34340	0.0682:0.0:0.6604:0.2714	.	.	.	.	Y	354	ENSP00000339862:S354Y	ENSP00000339862:S354Y	S	-	2	0	NOS1	116210384	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	1.332000	0.33805	0.831000	0.34780	0.563000	0.77884	TCT		0.507	NOS1-201	KNOWN	basic	protein_coding	protein_coding			
KSR2	283455	broad.mit.edu	37	12	117914280	117914280	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117914280G>T	ENST00000339824.5	-	17	3298	c.2571C>A	c.(2569-2571)gtC>gtA	p.V857V	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Silent_p.V828V			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V889V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGGGCAAAGACGTCAGAGT	0.597																																					p.V828V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2484A	12						.						52.0	61.0	58.0					12																	117914280		1980	4154	6134	116398663	SO:0001819	synonymous_variant	283455	exon17			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2571C>A	12.37:g.117914280G>T			116398663	NM_173598	A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37																																																																																					0.597	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
KSR2	283455	broad.mit.edu	37	12	117962842	117962842	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:117962842C>T	ENST00000339824.5	-	14	2761	c.2034G>A	c.(2032-2034)ggG>ggA	p.G678G	KSR2_ENST00000302438.5_Silent_p.G375G|KSR2_ENST00000425217.1_Silent_p.G649G|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	678	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G710G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTACACTTGCCCAAAGCGGC	0.607																																					p.G649G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1947A	12						.						56.0	61.0	59.0					12																	117962842		2090	4205	6295	116447225	SO:0001819	synonymous_variant	283455	exon14			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2034G>A	12.37:g.117962842C>T			116447225	NM_173598	A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37																																																																																					0.607	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
KSR2	283455	broad.mit.edu	37	12	118105456	118105456	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:118105456T>G	ENST00000339824.5	-	5	1721	c.994A>C	c.(994-996)Aag>Cag	p.K332Q	KSR2_ENST00000302438.5_Missense_Mutation_p.K29Q|KSR2_ENST00000425217.1_Missense_Mutation_p.K303Q|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	332					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K364Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGCTCTTCTTCTTGGCTCTG	0.542																																					p.K303Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A907C	12						.						46.0	47.0	47.0					12																	118105456		1926	4132	6058	116589839	SO:0001583	missense	283455	exon5			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.994A>C	12.37:g.118105456T>G	ENSP00000339952:p.Lys332Gln		116589839	NM_173598	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37		.	.	.	.	.	.	.	.	.	.	T	16.83	3.230337	0.58777	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.51574	0.7;0.7;0.7	4.9	4.9	0.64082	.	0.138655	0.47455	D	0.000234	T	0.60792	0.2296	L	0.46157	1.445	0.46954	D	0.99926	D	0.57899	0.981	D	0.69824	0.966	T	0.63010	-0.6732	10	0.59425	D	0.04	.	13.8297	0.63373	0.0:0.0:0.0:1.0	.	332	Q6VAB6	KSR2_HUMAN	Q	303;332;29;4	ENSP00000389715:K303Q;ENSP00000339952:K332Q;ENSP00000305466:K29Q	ENSP00000305466:K29Q	K	-	1	0	KSR2	116589839	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.613000	0.82986	1.966000	0.57179	0.460000	0.39030	AAG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
RFC5	5985	broad.mit.edu	37	12	118457550	118457550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:118457550G>T	ENST00000454402.2	+	3	362	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_Nonsense_Mutation_p.E61*	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	82					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E82*(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAAAGACAAAGAATTTGGCTC	0.423																																					p.E61X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G181T	12						.						89.0	83.0	85.0					12																	118457550		2203	4300	6503	116941933	SO:0001587	stop_gained	5985	exon4				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.244G>T	12.37:g.118457550G>T	ENSP00000408295:p.Glu82*		116941933	NM_181578	A8MZ62|B3KSX8	Nonsense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	G	36	5.937311	0.97122	.	.	ENSG00000111445	ENST00000484086;ENST00000420967;ENST00000454402;ENST00000392542;ENST00000535092	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.9433	17.519	0.87782	0.0:0.0:1.0:0.0	.	.	.	.	X	114;61;82;61;61	.	ENSP00000376325:E61X	E	+	1	0	RFC5	116941933	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.454000	0.97621	2.669000	0.90835	0.655000	0.94253	GAA		0.423	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370	
CCDC60	160777	broad.mit.edu	37	12	119909831	119909831	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:119909831G>A	ENST00000327554.2	+	3	668	c.203G>A	c.(202-204)gGa>gAa	p.G68E	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	68								p.G68E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATAGGCCGTGGATATTTTGCT	0.468																																					p.G68E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203A	12						.						100.0	97.0	98.0					12																	119909831		2203	4300	6503	118394214	SO:0001583	missense	160777	exon3			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.203G>A	12.37:g.119909831G>A	ENSP00000333374:p.Gly68Glu		118394214	NM_178499		Missense_Mutation	SNP	ENST00000327554.2	37	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321055	0.23994	.	.	ENSG00000183273	ENST00000327554	T	0.26810	1.71	5.22	5.22	0.72569	.	0.401293	0.21849	N	0.068205	T	0.38852	0.1056	L	0.50333	1.59	0.80722	D	1	D	0.59357	0.985	P	0.57009	0.811	T	0.04128	-1.0975	9	.	.	.	-12.5009	14.2748	0.66173	0.0:0.0:1.0:0.0	.	68	Q8IWA6	CCD60_HUMAN	E	68	ENSP00000333374:G68E	.	G	+	2	0	CCDC60	118394214	0.749000	0.28305	0.014000	0.15608	0.048000	0.14542	4.411000	0.59781	2.407000	0.81776	0.514000	0.50259	GGA		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499	
PRKAB1	5564	broad.mit.edu	37	12	120112250	120112250	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:120112250G>A	ENST00000229328.5	+	4	1015	c.523G>A	c.(523-525)Gat>Aat	p.D175N	PRKAB1_ENST00000540121.1_Missense_Mutation_p.D9N|PRKAB1_ENST00000541640.1_Missense_Mutation_p.D175N	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	175					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)	p.D175N(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	AAAGTGCTCCGATGTGTCTGG	0.428																																					p.D175N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	12						.						134.0	122.0	126.0					12																	120112250		2203	4300	6503	118596633	SO:0001583	missense	5564	exon4			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.523G>A	12.37:g.120112250G>A	ENSP00000229328:p.Asp175Asn		118596633	NM_006253	Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	ENST00000229328.5	37	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562807	0.65538	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596;ENST00000540121;ENST00000545223	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.62016	1.91	0.80722	D	1	B	0.27416	0.178	B	0.29524	0.103	T	0.61252	-0.7100	9	0.21014	T	0.42	-21.5678	20.422	0.99049	0.0:0.0:1.0:0.0	.	175	Q9Y478	AAKB1_HUMAN	N	175;175;138;9;9	.	ENSP00000229328:D175N	D	+	1	0	PRKAB1	118596633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GAT		0.428	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253	
CIT	11113	broad.mit.edu	37	12	120173072	120173072	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:120173072C>T	ENST00000261833.7	-	24	2975	c.2923G>A	c.(2923-2925)Gat>Aat	p.D975N	CIT_ENST00000392521.2_Missense_Mutation_p.D1017N|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	975					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D975N(1)|p.D1018N(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAAGCCTCATCGAGTTGTTTG	0.517																																					p.D975N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2923A	12						.						234.0	210.0	218.0					12																	120173072		2203	4300	6503	118657455	SO:0001583	missense	11113	exon24			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2923G>A	12.37:g.120173072C>T	ENSP00000261833:p.Asp975Asn		118657455	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799838	0.70567	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.66460	-0.13;-0.21	5.23	5.23	0.72850	.	0.114632	0.64402	D	0.000017	T	0.59197	0.2176	N	0.24115	0.695	0.49915	D	0.999831	D;P;D	0.56287	0.968;0.824;0.975	B;B;P	0.49085	0.37;0.105;0.6	T	0.60271	-0.7296	10	0.42905	T	0.14	.	12.5166	0.56036	0.0:0.9232:0.0:0.0768	.	1017;975;508	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	N	1017;975	ENSP00000376306:D1017N;ENSP00000261833:D975N	ENSP00000261833:D975N	D	-	1	0	CIT	118657455	1.000000	0.71417	0.996000	0.52242	0.586000	0.36452	6.051000	0.71072	2.587000	0.87381	0.655000	0.94253	GAT		0.517	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
CCDC64	92558	broad.mit.edu	37	12	120518740	120518740	+	Missense_Mutation	SNP	G	G	A	rs373275826		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:120518740G>A	ENST00000397558.2	+	7	1358	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	CCDC64_ENST00000257583.4_Missense_Mutation_p.R150Q|CCDC64_ENST00000446727.2_Missense_Mutation_p.R124Q	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	453					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)	p.R453Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGAGACCGACTCAGAGTC	0.527																																					p.R453Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1358A	12						.	G	GLN/ARG	1,4103		0,1,2051	71.0	78.0	76.0		1358	3.5	1.0	12		76	0,8390		0,0,4195	no	missense	CCDC64	NM_207311.2	43	0,1,6246	AA,AG,GG		0.0,0.0244,0.0080	possibly-damaging	453/574	120518740	1,12493	2052	4195	6247	119003123	SO:0001583	missense	92558	exon7			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1358G>A	12.37:g.120518740G>A	ENSP00000380690:p.Arg453Gln		119003123	NM_207311	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646918	0.47258	2.44E-4	0.0	ENSG00000135127	ENST00000397558;ENST00000446727;ENST00000548673;ENST00000257583	T;T;T	0.04706	3.59;3.6;3.57	5.32	3.48	0.39840	.	0.346876	0.28641	N	0.014638	T	0.04048	0.0113	L	0.39467	1.215	0.38678	D	0.952472	B;B;P	0.39624	0.236;0.433;0.681	B;B;B	0.26614	0.016;0.044;0.071	T	0.51116	-0.8746	10	0.38643	T	0.18	0.1625	11.9701	0.53060	0.1425:0.0:0.8575:0.0	.	150;124;453	B4DWL0;B4DNE7;Q6ZP65	.;.;BICR1_HUMAN	Q	453;124;171;150	ENSP00000380690:R453Q;ENSP00000399658:R124Q;ENSP00000447477:R171Q	ENSP00000257583:R150Q	R	+	2	0	CCDC64	119003123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.269000	0.65542	0.619000	0.30197	0.561000	0.74099	CGA		0.527	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
ETV6	2120	broad.mit.edu	37	12	12038864	12038864	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12038864G>T	ENST00000396373.4	+	7	1431	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	386					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R386I(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAACAGAACAGAACAAACATG	0.418			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																p.R386I			Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157T	12						.						103.0	97.0	99.0					12																	12038864		2203	4300	6503	11930131	SO:0001583	missense	2120	exon7			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1157G>T	12.37:g.12038864G>T	ENSP00000379658:p.Arg386Ile		11930131	NM_001987	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933552	0.92458	.	.	ENSG00000139083	ENST00000396373	T	0.27256	1.68	5.1	5.1	0.69264	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66622	-0.5877	10	0.87932	D	0	.	18.4712	0.90776	0.0:0.0:1.0:0.0	.	386	P41212	ETV6_HUMAN	I	386	ENSP00000379658:R386I	ENSP00000379658:R386I	R	+	2	0	ETV6	11930131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.541000	0.85698	0.655000	0.94253	AGA		0.418	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987	
SIRT4	23409	broad.mit.edu	37	12	120741624	120741624	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:120741624G>A	ENST00000202967.4	+	2	319	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_012240.2	NP_036372.1			sirtuin 4									p.R87H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCACTGACCGCAGGCCCATC	0.572																																					p.R87H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260A	12						.						55.0	51.0	52.0					12																	120741624		2203	4300	6503	119226007	SO:0001583	missense	23409	exon2			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.260G>A	12.37:g.120741624G>A	ENSP00000202967:p.Arg87His		119226007	NM_012240		Missense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912308	0.17907	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.17854	2.25;2.25	5.39	3.51	0.40186	.	0.097314	0.64402	D	0.000002	T	0.06050	0.0157	N	0.02751	-0.505	0.51233	D	0.999913	B	0.14012	0.009	B	0.12156	0.007	T	0.25572	-1.0128	10	0.05525	T	0.97	-22.2578	11.4148	0.49945	0.1517:0.0:0.8483:0.0	.	87	Q9Y6E7	SIRT4_HUMAN	H	28;87	ENSP00000444838:R28H;ENSP00000202967:R87H	ENSP00000202967:R87H	R	+	2	0	SIRT4	119226007	1.000000	0.71417	0.799000	0.32177	0.971000	0.66376	5.419000	0.66435	0.732000	0.32470	0.644000	0.83932	CGC		0.572	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240	
RNF10	9921	broad.mit.edu	37	12	121013487	121013487	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121013487G>T	ENST00000325954.4	+	15	2657	c.2196G>T	c.(2194-2196)aaG>aaT	p.K732N	RNF10_ENST00000413266.2_Missense_Mutation_p.K737N|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	732					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K732N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCTCCAAAGAAAGGTGAGG	0.443																																					p.K732N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2196T	12						.						101.0	102.0	102.0					12																	121013487		2203	4300	6503	119497870	SO:0001583	missense	9921	exon15			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2196G>T	12.37:g.121013487G>T	ENSP00000322242:p.Lys732Asn		119497870	NM_014868	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821027	0.71028	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.89939	-2.59;-2.59	5.39	-0.864	0.10666	.	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	L	0.55481	1.735	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85807	0.1377	10	0.23891	T	0.37	.	10.7077	0.45965	0.3824:0.0:0.6176:0.0	.	737;732	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	N	732;732;737;67	ENSP00000322242:K732N;ENSP00000415682:K737N	ENSP00000322242:K732N	K	+	3	2	RNF10	119497870	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	2.411000	0.44600	-0.191000	0.10448	-0.150000	0.13652	AAG		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		
ACADS	35	broad.mit.edu	37	12	121164911	121164911	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121164911G>A	ENST00000242592.4	+	2	280	c.129G>A	c.(127-129)caG>caA	p.Q43Q	ACADS_ENST00000411593.2_Silent_p.Q43Q	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	43					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.Q43Q(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	TGTTGCTCCAGACATGCCGGG	0.577																																					p.Q43Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G129A	12						.						192.0	181.0	185.0					12																	121164911		2203	4300	6503	119649294	SO:0001819	synonymous_variant	35	exon2			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.129G>A	12.37:g.121164911G>A			119649294	NM_000017	P78331	Silent	SNP	ENST00000242592.4	37	CCDS9207.1																																																																																				0.577	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	
OASL	8638	broad.mit.edu	37	12	121458598	121458598	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121458598G>A	ENST00000257570.5	-	6	1581	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	437	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)	p.F437F(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATTCTTCACGAAGACCTGGA	0.542																																					p.F437F	Colon(192;517 2041 31392 31913 39966)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1311T	12						.						91.0	88.0	89.0					12																	121458598		2203	4300	6503	119942981	SO:0001819	synonymous_variant	8638	exon6			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1311C>T	12.37:g.121458598G>A			119942981	NM_003733	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	ENST00000257570.5	37	CCDS9211.1																																																																																				0.542	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
OASL	8638	broad.mit.edu	37	12	121469315	121469315	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121469315C>A	ENST00000257570.5	-	3	857	c.587G>T	c.(586-588)aGa>aTa	p.R196I	OASL_ENST00000339275.5_Missense_Mutation_p.R196I	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	196					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)	p.R196I(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGAAATTTCTCTGCAGCTC	0.577																																					p.R196I	Colon(192;517 2041 31392 31913 39966)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587T	12						.						102.0	94.0	96.0					12																	121469315		2203	4300	6503	119953698	SO:0001583	missense	8638	exon3			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.587G>T	12.37:g.121469315C>A	ENSP00000257570:p.Arg196Ile		119953698	NM_003733	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.28|17.28	3.349537|3.349537	0.61183|0.61183	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000543677|ENST00000257570;ENST00000339275	.|T;T	.|0.51325	.|0.71;0.71	5.65|5.65	2.69|2.69	0.31865|0.31865	.|-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.|0.226336	.|0.30227	.|N	.|0.010109	.|T	.|0.67230	.|0.2871	M|M	0.87269|0.87269	2.87|2.87	0.30271|0.30271	N|N	0.792216|0.792216	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.979;0.998	.|T	.|0.65730	.|-0.6097	.|10	.|0.87932	.|D	.|0	-24.4989|-24.4989	6.647|6.647	0.22941|0.22941	0.0:0.7105:0.0:0.2895|0.0:0.7105:0.0:0.2895	.|.	.|196;196	.|Q15646-2;Q15646	.|.;OASL_HUMAN	X|I	94|196	.|ENSP00000257570:R196I;ENSP00000341125:R196I	.|ENSP00000257570:R196I	E|R	-|-	1|2	0|0	OASL|OASL	119953698|119953698	0.833000|0.833000	0.29383|0.29383	0.675000|0.675000	0.29917|0.29917	0.736000|0.736000	0.42039|0.42039	0.662000|0.662000	0.25038|0.25038	0.952000|0.952000	0.37798|0.37798	-0.150000|-0.150000	0.13652|0.13652	GAA|AGA		0.577	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
P2RX4	5025	broad.mit.edu	37	12	121659733	121659733	+	Silent	SNP	C	C	T	rs371199627		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121659733C>T	ENST00000337233.4	+	3	608	c.300C>T	c.(298-300)ttC>ttT	p.F100F	P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Silent_p.F116F|P2RX4_ENST00000541532.1_Silent_p.F100F|P2RX4_ENST00000543171.1_5'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	100					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.F100F(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTCCCTCTTCGTCATGACCA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14862	0.0		0.0	False		,,,				2504	0.0				p.F100F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	12						.	C		1,4405	2.1+/-5.4	0,1,2202	177.0	159.0	165.0		300	1.8	1.0	12		165	0,8600		0,0,4300	no	coding-synonymous	P2RX4	NM_002560.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		100/389	121659733	1,13005	2203	4300	6503	120144116	SO:0001819	synonymous_variant	5025	exon3			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.300C>T	12.37:g.121659733C>T			120144116	NM_002560	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	ENST00000337233.4	37	CCDS9214.1																																																																																				0.627	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567	
P2RX4	5025	broad.mit.edu	37	12	121666358	121666358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121666358G>T	ENST00000337233.4	+	6	855	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Nonsense_Mutation_p.E199*|P2RX4_ENST00000541532.1_3'UTR|P2RX4_ENST00000543171.1_Nonsense_Mutation_p.E82*	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	183					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E183*(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTGCAGAAAACTTCAC	0.338																																					p.E183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G547T	12						.						77.0	74.0	75.0					12																	121666358		2203	4299	6502	120150741	SO:0001587	stop_gained	5025	exon6			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.547G>T	12.37:g.121666358G>T	ENSP00000336607:p.Glu183*		120150741	NM_002560	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Nonsense_Mutation	SNP	ENST00000337233.4	37	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252397	0.80135	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000543171;ENST00000538701;ENST00000542067	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.5745	18.2117	0.89872	0.0:0.0:1.0:0.0	.	.	.	.	X	183;199;82;53;156	.	ENSP00000336607:E183X	E	+	1	0	P2RX4	120150741	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.450000	0.80656	2.619000	0.88677	0.462000	0.41574	GAA		0.338	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567	
RNF34	80196	broad.mit.edu	37	12	121855676	121855676	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121855676G>A	ENST00000392464.2	+	3	664	c.595G>A	c.(595-597)Gat>Aat	p.D199N	RNF34_ENST00000392465.3_Missense_Mutation_p.D200N|RNF34_ENST00000361234.5_Missense_Mutation_p.D199N|RNF34_ENST00000555076.1_Intron					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		AGAGCTTATGGATGGAGACCA	0.488																																					p.D199N												.	.	0			c.G595A	12						.						130.0	148.0	142.0					12																	121855676		2203	4300	6503	120340059	SO:0001583	missense	80196	exon3			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.595G>A	12.37:g.121855676G>A	ENSP00000376257:p.Asp199Asn		120340059	NM_025126		Missense_Mutation	SNP	ENST00000392464.2	37		.	.	.	.	.	.	.	.	.	.	G	16.19	3.053321	0.55218	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.35421	1.31;1.31;1.52	6.17	5.19	0.71726	.	0.481200	0.26026	N	0.026800	T	0.12263	0.0298	N	0.02539	-0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30822	-0.9965	10	0.16896	T	0.51	-14.5277	4.3154	0.10991	0.1436:0.2463:0.6101:0.0	.	199;200	Q969K3;Q969K3-2	RNF34_HUMAN;.	N	199;200;199;200	ENSP00000355137:D199N;ENSP00000376258:D200N;ENSP00000376257:D199N	ENSP00000346850:D200N	D	+	1	0	RNF34	120340059	0.537000	0.26386	0.996000	0.52242	0.961000	0.63080	3.729000	0.54999	2.941000	0.99782	0.655000	0.94253	GAT		0.488	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271	
IQSEC3	440073	broad.mit.edu	37	12	250337	250337	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:250337C>T	ENST00000538872.1	+	5	2157	c.2039C>T	c.(2038-2040)cCg>cTg	p.P680L	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P680L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P377L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	680	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P377L(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGCTTCATCCCGGACACCCCC	0.587																																					p.P680L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2039T	12						.						117.0	109.0	112.0					12																	250337		2203	4300	6503	120598	SO:0001583	missense	440073	exon5			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2039C>T	12.37:g.250337C>T	ENSP00000437554:p.Pro680Leu		120598	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391108	0.82902	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.76839	-1.05;-1.05;-1.05	5.76	5.76	0.90799	SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	L	0.58354	1.805	0.80722	D	1	B;P	0.38129	0.45;0.619	B;B	0.37780	0.258;0.119	T	0.79992	-0.1569	10	0.87932	D	0	.	19.973	0.97292	0.0:1.0:0.0:0.0	.	680;377	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	L	680;680;377	ENSP00000437554:P680L;ENSP00000315662:P680L;ENSP00000372292:P377L	ENSP00000315662:P680L	P	+	2	0	IQSEC3	120598	1.000000	0.71417	0.967000	0.41034	0.345000	0.29048	7.818000	0.86416	2.729000	0.93468	0.511000	0.50034	CCG		0.587	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
KDM2B	84678	broad.mit.edu	37	12	121881589	121881589	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:121881589G>A	ENST00000377071.4	-	17	2531	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.S188L|KDM2B_ENST00000377069.4_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	820					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.S459L(1)|p.S820L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGTTTGAAGCGATGAGGCCTA	0.607											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S820L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2459T	12						.						36.0	42.0	40.0					12																	121881589		1972	4154	6126	120365972	SO:0001583	missense	84678	exon17			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2459C>T	12.37:g.121881589G>A	ENSP00000366271:p.Ser820Leu	1514	120365972	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201087	0.38905	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377071;ENST00000540043;ENST00000261824	T;T	0.22945	2.24;1.93	4.86	3.9	0.45041	.	0.357803	0.20448	N	0.092149	T	0.10981	0.0268	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.18310	0.009;0.027;0.027	B;B;B	0.12156	0.007;0.007;0.007	T	0.12502	-1.0545	10	0.30854	T	0.27	-12.2278	9.8788	0.41220	0.0:0.0:0.7966:0.2034	.	260;820;263	B7ZB05;Q8NHM5;B4DSN4	.;KDM2B_HUMAN;.	L	820;188;820;263;823	ENSP00000437821:S188L;ENSP00000366271:S820L	ENSP00000261824:S823L	S	-	2	0	KDM2B	120365972	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.385000	0.52485	2.698000	0.92095	0.561000	0.74099	TCG		0.607	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
TMEM120B	144404	broad.mit.edu	37	12	122199565	122199565	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122199565G>A	ENST00000449592.2	+	6	573	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	158						integral component of membrane (GO:0016021)		p.E158K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		GGTGACTGACGAAGTCTTCAA	0.592																																					p.E158K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G472A	12						.						93.0	89.0	91.0					12																	122199565		2052	4195	6247	120683948	SO:0001583	missense	144404	exon6			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.472G>A	12.37:g.122199565G>A	ENSP00000404991:p.Glu158Lys		120683948	NM_001080825	A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108179	0.77096	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.29917	1.55;1.55	5.62	4.67	0.58626	.	0.053460	0.85682	D	0.000000	T	0.29749	0.0743	M	0.72118	2.19	0.80722	D	1	P	0.47484	0.896	B	0.40199	0.322	T	0.10405	-1.0631	10	0.09843	T	0.71	-8.5011	13.0689	0.59048	0.0:0.0:0.8385:0.1614	.	158	A0PK00	T120B_HUMAN	K	158;137	ENSP00000404991:E158K;ENSP00000442105:E137K	ENSP00000345152:E158K	E	+	1	0	TMEM120B	120683948	1.000000	0.71417	0.870000	0.34147	0.750000	0.42670	7.536000	0.82023	2.655000	0.90218	0.650000	0.86243	GAA		0.592	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825	
HPD	3242	broad.mit.edu	37	12	122286961	122286961	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122286961C>A	ENST00000289004.4	-	9	575	c.540G>T	c.(538-540)atG>atT	p.M180I	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.M141I	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	180					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.M180I(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGTGGTCGATCATCTCCAGAC	0.557																																					p.M180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G540T	12						.						162.0	119.0	134.0					12																	122286961		2203	4300	6503	120771344	SO:0001583	missense	3242	exon9			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.540G>T	12.37:g.122286961C>A	ENSP00000289004:p.Met180Ile		120771344	NM_002150	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	7.906	0.735498	0.15574	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.62364	0.03;0.03	5.64	-11.3	0.00108	.	0.368486	0.33553	N	0.004788	T	0.18299	0.0439	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	10	0.22706	T	0.39	-3.5749	8.6557	0.34062	0.1486:0.1878:0.5514:0.1121	.	180	P32754	HPPD_HUMAN	I	180;177;141	ENSP00000289004:M180I;ENSP00000441677:M141I	ENSP00000289004:M180I	M	-	3	0	HPD	120771344	0.010000	0.17322	0.000000	0.03702	0.034000	0.12701	-1.247000	0.02893	-4.043000	0.00079	-1.092000	0.02172	ATG		0.557	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150	
WDR66	144406	broad.mit.edu	37	12	122398570	122398570	+	Missense_Mutation	SNP	G	G	A	rs200928405		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122398570G>A	ENST00000288912.4	+	14	3067	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	WDR66_ENST00000397454.2_Missense_Mutation_p.R738H	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	738							calcium ion binding (GO:0005509)	p.R738H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCAAGACTTCGCTCTCATCGC	0.488																																					p.R738H	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2213A	12						.						146.0	143.0	144.0					12																	122398570		1951	4153	6104	120882953	SO:0001583	missense	144406	exon14			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2213G>A	12.37:g.122398570G>A	ENSP00000288912:p.Arg738His		120882953	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141426	0.37825	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63580	0.91;-0.05	4.82	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.183177	0.47852	D	0.000202	T	0.48642	0.1511	L	0.31926	0.97	0.24698	N	0.993275	P	0.42296	0.775	B	0.40636	0.335	T	0.42565	-0.9444	10	0.33940	T	0.23	.	9.5498	0.39304	0.1761:0.0:0.8239:0.0	.	738	Q8TBY9	WDR66_HUMAN	H	738	ENSP00000288912:R738H;ENSP00000380595:R738H	ENSP00000288912:R738H	R	+	2	0	WDR66	120882953	0.045000	0.20229	0.205000	0.23548	0.916000	0.54674	1.443000	0.35057	2.382000	0.81193	0.655000	0.94253	CGC		0.488	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
BCL7A	605	broad.mit.edu	37	12	122481882	122481882	+	Missense_Mutation	SNP	C	C	T	rs538468428		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122481882C>T	ENST00000261822.4	+	4	568	c.362C>T	c.(361-363)tCg>tTg	p.S121L	BCL7A_ENST00000538010.1_Missense_Mutation_p.S121L	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	121					negative regulation of transcription, DNA-templated (GO:0045892)			p.S121L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGCCCAACTCGGCTGTGCCC	0.632			T	MYC	BNHL								C|||	1	0.000199681	0.0	0.0014	5008	,	,		17829	0.0		0.0	False		,,,				2504	0.0				p.S121L	GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362T	12						.						126.0	109.0	115.0					12																	122481882		2203	4300	6503	120966265	SO:0001583	missense	605	exon4			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.362C>T	12.37:g.122481882C>T	ENSP00000261822:p.Ser121Leu		120966265	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991537	0.35131	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.47177	0.87;0.85	5.54	4.65	0.58169	.	0.544904	0.20291	N	0.095224	T	0.30479	0.0766	N	0.19112	0.55	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.11329	0.001;0.006	T	0.14643	-1.0465	10	0.27785	T	0.31	.	8.817	0.35002	0.0:0.7701:0.0:0.2299	.	121;121	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	L	121	ENSP00000445868:S121L;ENSP00000261822:S121L	ENSP00000261822:S121L	S	+	2	0	BCL7A	120966265	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.943000	0.29030	1.346000	0.45694	0.650000	0.86243	TCG		0.632	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1		
BCL7A	605	broad.mit.edu	37	12	122492891	122492891	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122492891C>T	ENST00000261822.4	+	5	767				BCL7A_ENST00000538010.1_Missense_Mutation_p.S207L	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A						negative regulation of transcription, DNA-templated (GO:0045892)			p.S207L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ATTGGGTTGTCGGGGGTACGT	0.542			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S207L	GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	12						.						64.0	67.0	66.0					12																	122492891		2203	4300	6503	120977274	SO:0001627	intron_variant	605	exon5			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.561+59C>T	12.37:g.122492891C>T		1519	120977274	NM_020993	B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846205	0.32606	.	.	ENSG00000110987	ENST00000538010	T	0.47869	0.83	5.1	-4.65	0.03339	.	2.819560	0.00924	N	0.002629	T	0.28400	0.0702	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07481	-1.0770	9	0.30854	T	0.27	.	3.5867	0.07973	0.1038:0.4454:0.1025:0.3482	.	207	Q4VC05-2	.	L	207	ENSP00000445868:S207L	ENSP00000445868:S207L	S	+	2	0	BCL7A	120977274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.477000	0.02331	-0.815000	0.04346	-2.183000	0.00315	TCG		0.542	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1		
MLXIP	22877	broad.mit.edu	37	12	122618047	122618047	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122618047C>T	ENST00000319080.7	+	9	1377	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	MLXIP_ENST00000377037.2_Silent_p.F22F|MLXIP_ENST00000538698.1_Silent_p.F22F					MLX interacting protein									p.F415F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCACGGACTTCGGTCCCTCAG	0.672																																					p.F415F	Esophageal Squamous(105;787 1493 16200 18566 52466)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1245T	12						.						15.0	19.0	18.0					12																	122618047		2081	4194	6275	121184000	SO:0001819	synonymous_variant	22877	exon9			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1245C>T	12.37:g.122618047C>T			121184000	NM_014938		Silent	SNP	ENST00000319080.7	37																																																																																					0.672	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
IL31	386653	broad.mit.edu	37	12	122658409	122658409	+	Silent	SNP	C	C	T	rs141921768		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122658409C>T	ENST00000377035.1	-	2	173	c.147G>A	c.(145-147)tcG>tcA	p.S49S		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	49					immune system process (GO:0002376)	extracellular space (GO:0005615)		p.S49S(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AAAGCATCTTCGAGAGGGACT	0.483																																					p.S49S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	12						.	C	,	2,4404	4.2+/-10.8	0,2,2201	110.0	101.0	104.0		147,	-8.3	0.0	12	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,intron	LRRC43,IL31	NM_001014336.1,NM_152759.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	49/165,	122658409	2,13004	2203	4300	6503	121224362	SO:0001819	synonymous_variant	386653	exon2			AY499343	CCDS31919.1	12q24.31	2011-07-21			ENSG00000204671	ENSG00000204671		"""Interleukins and interleukin receptors"""	19372	protein-coding gene	gene with protein product		609509				15184896	Standard	NM_001014336		Approved	IL-31	uc001ubv.3	Q6EBC2	OTTHUMG00000168916	ENST00000377035.1:c.147G>A	12.37:g.122658409C>T			121224362	NM_001014336	A2RUQ1	Silent	SNP	ENST00000377035.1	37	CCDS31919.1																																																																																				0.483	IL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401594.1	NM_001014336	
BCL2L14	79370	broad.mit.edu	37	12	12232252	12232252	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12232252A>G	ENST00000308721.5	+	2	219	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	BCL2L14_ENST00000396367.1_Missense_Mutation_p.S5G|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S5G|BCL2L14_ENST00000266434.4_Missense_Mutation_p.S5G|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S5G|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S38G	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	5					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.S5G(2)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GTGTAGCACCAGTGGGTGTGA	0.483																																					p.S5G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A13G	12						.						141.0	126.0	131.0					12																	12232252		2203	4300	6503	12123519	SO:0001583	missense	79370	exon2			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.13A>G	12.37:g.12232252A>G	ENSP00000309132:p.Ser5Gly		12123519	NM_138723	A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.043381	0.36085	.	.	ENSG00000121380	ENST00000464885;ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	4.11	0.335	0.15953	.	0.398924	0.24568	N	0.037404	T	0.55513	0.1925	M	0.73962	2.25	0.27251	N	0.958892	P;D	0.71674	0.703;0.998	B;D	0.80764	0.203;0.994	T	0.46345	-0.9198	9	0.87932	D	0	-6.0632	4.628	0.12488	0.5266:0.3667:0.1066:0.0	.	5;5	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	G	5;8;5;5;5;5	.	ENSP00000266434:S5G	S	+	1	0	BCL2L14	12123519	0.619000	0.27059	0.748000	0.31131	0.351000	0.29236	0.976000	0.29462	0.056000	0.16144	0.460000	0.39030	AGT		0.483	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766	
LRRC43	254050	broad.mit.edu	37	12	122669073	122669073	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122669073C>T	ENST00000339777.4	+	2	186	c.158C>T	c.(157-159)tCg>tTg	p.S53L	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	53								p.S53L(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGAATAAGTCGCGCTTTCTT	0.547																																					p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	12						.						40.0	41.0	41.0					12																	122669073		1956	4147	6103	121235026	SO:0001583	missense	254050	exon2			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.158C>T	12.37:g.122669073C>T	ENSP00000344233:p.Ser53Leu		121235026	NM_001098519	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010416	0.54361	.	.	ENSG00000158113	ENST00000339777	T	0.60040	0.22	4.94	4.04	0.47022	.	.	.	.	.	T	0.72317	0.3445	M	0.67953	2.075	0.58432	D	0.999994	D	0.76494	0.999	D	0.77557	0.99	T	0.75830	-0.3179	9	0.87932	D	0	-1.7082	13.2026	0.59776	0.0:0.9202:0.0:0.0798	.	53	Q8N309	LRC43_HUMAN	L	53	ENSP00000344233:S53L	ENSP00000344233:S53L	S	+	2	0	LRRC43	121235026	0.982000	0.34865	0.060000	0.19600	0.253000	0.25986	3.123000	0.50453	2.272000	0.75746	0.462000	0.41574	TCG		0.547	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	
LRRC43	254050	broad.mit.edu	37	12	122685168	122685168	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122685168G>T	ENST00000339777.4	+	9	1609	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.E342D	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	527	Lys-rich.							p.E527D(1)|p.E342D(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aagggaaggagaaagacagga	0.587																																					p.E527D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1581T	12						.						92.0	109.0	104.0					12																	122685168		1966	4129	6095	121251121	SO:0001583	missense	254050	exon9			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1581G>T	12.37:g.122685168G>T	ENSP00000344233:p.Glu527Asp		121251121	NM_001098519	Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	7.327	0.618242	0.14129	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56275	0.47;0.88	4.4	1.41	0.22369	.	0.781535	0.10513	N	0.665870	T	0.37732	0.1014	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24048	-1.0171	10	0.35671	T	0.21	-1.416	7.6994	0.28613	0.0892:0.312:0.5988:0.0	.	527	Q8N309	LRC43_HUMAN	D	527;398;342	ENSP00000344233:E527D;ENSP00000416628:E342D	ENSP00000289014:E398D	E	+	3	2	LRRC43	121251121	0.325000	0.24660	0.000000	0.03702	0.003000	0.03518	0.777000	0.26718	0.166000	0.19597	0.650000	0.86243	GAG		0.587	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	
CLIP1	6249	broad.mit.edu	37	12	122794329	122794329	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122794329C>T	ENST00000540338.1	-	19	3615	c.3574G>A	c.(3574-3576)Gaa>Aaa	p.E1192K	CLIP1_ENST00000361654.4_Missense_Mutation_p.E1070K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E1146K|CLIP1_ENST00000545889.1_Missense_Mutation_p.E767K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E1181K|CLIP1_ENST00000358808.2_Missense_Mutation_p.E1181K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1192					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1181K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTTGTGACTTCGTCCCTGCTT	0.557																																					p.E1146K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3436A	12						.						202.0	126.0	152.0					12																	122794329		2203	4300	6503	121360282	SO:0001583	missense	6249	exon18				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3574G>A	12.37:g.122794329C>T	ENSP00000439093:p.Glu1192Lys		121360282	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438276	0.43326	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.57	3.67	0.42095	.	0.667620	0.16017	N	0.233512	T	0.25791	0.0628	L	0.27053	0.805	0.42513	D	0.992971	B;B;B	0.23591	0.088;0.088;0.025	B;B;B	0.25614	0.062;0.038;0.007	T	0.03268	-1.1054	10	0.17832	T	0.49	-10.0363	12.3337	0.55054	0.1345:0.7362:0.1292:0.0	.	1146;1181;1192	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	767;1181;1181;911;223;1146;1192	ENSP00000438743:E767K;ENSP00000303585:E1181K;ENSP00000351665:E1181K;ENSP00000445531:E1146K;ENSP00000439093:E1192K	ENSP00000303585:E1181K	E	-	1	0	CLIP1	121360282	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.546000	0.45778	0.652000	0.30806	0.555000	0.69702	GAA		0.557	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
ZCCHC8	55596	broad.mit.edu	37	12	122966082	122966082	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122966082G>T	ENST00000336229.4	-	10	1135	c.1005C>A	c.(1003-1005)ctC>ctA	p.L335L	ZCCHC8_ENST00000543897.1_Silent_p.L97L|ZCCHC8_ENST00000536306.1_Silent_p.L97L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	335					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L335L(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCATCATAGAGTGCAAGCC	0.408																																					p.L335L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005A	12						.						129.0	125.0	126.0					12																	122966082		1829	4079	5908	121532035	SO:0001819	synonymous_variant	55596	exon10			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1005C>A	12.37:g.122966082G>T			121532035	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	ENST00000336229.4	37																																																																																					0.408	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
ZCCHC8	55596	broad.mit.edu	37	12	122975067	122975067	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122975067C>A	ENST00000336229.4	-	4	495	c.365G>T	c.(364-366)aGa>aTa	p.R122I	SNORA9_ENST00000516383.1_RNA|ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	122					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R122I(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTCCTCAAATCTTTTTACTAA	0.328																																					p.R122I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365T	12						.						67.0	63.0	64.0					12																	122975067		1807	4068	5875	121541020	SO:0001583	missense	55596	exon4			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.365G>T	12.37:g.122975067C>A	ENSP00000337313:p.Arg122Ile		121541020	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	C	16.83	3.231215	0.58777	.	.	ENSG00000033030	ENST00000336229	T	0.50813	0.73	5.83	4.94	0.65067	.	0.041724	0.85682	D	0.000000	T	0.41858	0.1177	L	0.54323	1.7	0.51482	D	0.99992	B	0.31009	0.303	B	0.31495	0.131	T	0.42481	-0.9449	10	0.59425	D	0.04	-22.8154	8.7725	0.34742	0.0:0.7958:0.0:0.2042	.	122	Q6NZY4	ZCHC8_HUMAN	I	122	ENSP00000337313:R122I	ENSP00000337313:R122I	R	-	2	0	ZCCHC8	121541020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.485000	0.45250	2.763000	0.94921	0.563000	0.77884	AGA		0.328	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
RSRC2	65117	broad.mit.edu	37	12	122999749	122999749	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:122999749G>A	ENST00000331738.7	-	6	773	c.628C>T	c.(628-630)Ccg>Tcg	p.P210S	RSRC2_ENST00000392442.2_5'Flank|RSRC2_ENST00000354654.2_Missense_Mutation_p.P162S	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	210							poly(A) RNA binding (GO:0044822)	p.P210S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AATCTTCTCGGCTTTTCAATT	0.378																																					p.P210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	12						.						203.0	197.0	199.0					12																	122999749		2203	4300	6503	121565702	SO:0001583	missense	65117	exon6			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.628C>T	12.37:g.122999749G>A	ENSP00000330188:p.Pro210Ser		121565702	NM_023012	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037158	0.35893	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.14516	2.5;2.5;2.5	5.63	5.63	0.86233	.	0.259597	0.45867	D	0.000332	T	0.09686	0.0238	N	0.14661	0.345	0.37299	D	0.90862	B;B;B;B	0.17268	0.021;0.009;0.021;0.003	B;B;B;B	0.16289	0.015;0.003;0.015;0.003	T	0.21449	-1.0245	10	0.09338	T	0.73	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	210;162;210;151	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	S	210;162;210;151	ENSP00000330188:P210S;ENSP00000346678:P162S;ENSP00000343315:P151S	ENSP00000330188:P210S	P	-	1	0	RSRC2	121565702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.974000	0.56852	2.814000	0.96858	0.655000	0.94253	CCG		0.378	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012	
KNTC1	9735	broad.mit.edu	37	12	123058871	123058871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123058871G>T	ENST00000333479.7	+	27	2503	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	KNTC1_ENST00000450485.2_Nonsense_Mutation_p.E739*	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	776					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E776*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATCACTCTTTGAAACAGCATG	0.343																																					p.E776X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2326T	12						.						80.0	76.0	77.0					12																	123058871		1900	4131	6031	121624824	SO:0001587	stop_gained	9735	exon27				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2326G>T	12.37:g.123058871G>T	ENSP00000328236:p.Glu776*		121624824	NM_014708	A7E2C4|B3KSG2	Nonsense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	41	8.708985	0.98922	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	.	.	.	5.61	5.61	0.85477	.	0.193029	0.36066	N	0.002813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.7798	19.6299	0.95698	0.0:0.0:1.0:0.0	.	.	.	.	X	739;776	.	ENSP00000328236:E776X	E	+	1	0	KNTC1	121624824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.541000	0.82084	2.640000	0.89533	0.563000	0.77884	GAA		0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
KNTC1	9735	broad.mit.edu	37	12	123098300	123098300	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123098300G>A	ENST00000333479.7	+	55	6046	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.E882K|KNTC1_ENST00000537348.1_Missense_Mutation_p.E382K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1957					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.E1957K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCACAGCCACGAGTCCATGGT	0.438																																					p.E1957K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G5869A	12						.						72.0	66.0	68.0					12																	123098300		1877	4117	5994	121664253	SO:0001583	missense	9735	exon55				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5869G>A	12.37:g.123098300G>A	ENSP00000328236:p.Glu1957Lys		121664253	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028668	0.75390	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.81	5.81	0.92471	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	M	0.71581	2.175	0.54753	D	0.999987	D;D	0.67145	0.996;0.994	P;P	0.61874	0.895;0.872	T	0.47947	-0.9077	10	0.29301	T	0.29	-26.5803	14.2655	0.66116	0.0708:0.0:0.9292:0.0	.	882;1957	E7ES84;P50748	.;KNTC1_HUMAN	K	882;1957;382;118	ENSP00000397992:E882K;ENSP00000328236:E1957K;ENSP00000443622:E382K;ENSP00000439119:E118K	ENSP00000328236:E1957K	E	+	1	0	KNTC1	121664253	1.000000	0.71417	0.168000	0.22838	0.556000	0.35491	7.489000	0.81451	2.752000	0.94435	0.557000	0.71058	GAG		0.438	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
KNTC1	9735	broad.mit.edu	37	12	123107101	123107101	+	Silent	SNP	G	G	A	rs538519234		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123107101G>A	ENST00000333479.7	+	62	6639	c.6462G>A	c.(6460-6462)gcG>gcA	p.A2154A	KNTC1_ENST00000534995.1_Silent_p.A75A|KNTC1_ENST00000436959.3_Silent_p.A75A|KNTC1_ENST00000450485.2_Silent_p.A1079A|HCAR1_ENST00000356987.2_Intron|KNTC1_ENST00000537348.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2154					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.A2154A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGATGCATGCGATGAATACCA	0.294																																					p.A2154A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6462A	12						.						45.0	43.0	43.0					12																	123107101		1848	4085	5933	121673054	SO:0001819	synonymous_variant	9735	exon62				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.6462G>A	12.37:g.123107101G>A			121673054	NM_014708	A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	CCDS45002.1																																																																																				0.294	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
LRP6	4040	broad.mit.edu	37	12	12317235	12317235	+	Missense_Mutation	SNP	C	C	T	rs376188127		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12317235C>T	ENST00000261349.4	-	9	2100	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R675Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	675	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R675Q(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAATTCGGTTGTCTGT	0.358																																					p.R675Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2024A	12						.	C	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	85.0	87.0	86.0		2024	5.4	1.0	12		86	0,8600		0,0,4300	no	missense	LRP6	NM_002336.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	675/1614	12317235	1,13003	2202	4300	6502	12208502	SO:0001583	missense	4040	exon9			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2024G>A	12.37:g.12317235C>T	ENSP00000261349:p.Arg675Gln		12208502	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132673	0.94517	2.27E-4	0.0	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96802	-4.13;-4.13	5.41	5.41	0.78517	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.97785	0.9273	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.941	D	0.96857	0.9629	10	0.31617	T	0.26	.	19.571	0.95419	0.0:1.0:0.0:0.0	.	675;675	F5H7J9;O75581	.;LRP6_HUMAN	Q	675	ENSP00000261349:R675Q;ENSP00000442472:R675Q	ENSP00000261349:R675Q	R	-	2	0	LRP6	12208502	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	6.013000	0.70776	2.709000	0.92574	0.655000	0.94253	CGA		0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
LRP6	4040	broad.mit.edu	37	12	12317322	12317322	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12317322G>T	ENST00000261349.4	-	9	2013	c.1937C>A	c.(1936-1938)tCt>tAt	p.S646Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S646Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	646	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S646Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTTTCCAGAGAAATTCGTCT	0.418																																					p.S646Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1937A	12						.						104.0	103.0	103.0					12																	12317322		2203	4300	6503	12208589	SO:0001583	missense	4040	exon9			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1937C>A	12.37:g.12317322G>T	ENSP00000261349:p.Ser646Tyr		12208589	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884412	0.91814	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91740	-2.9;-2.9	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000009	D	0.96256	0.8779	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.952	D	0.94924	0.8076	10	0.38643	T	0.18	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	646;646	F5H7J9;O75581	.;LRP6_HUMAN	Y	646	ENSP00000261349:S646Y;ENSP00000442472:S646Y	ENSP00000261349:S646Y	S	-	2	0	LRP6	12208589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.824000	0.97209	0.655000	0.94253	TCT		0.418	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
HCAR2	338442	broad.mit.edu	37	12	123186843	123186843	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123186843C>T	ENST00000328880.5	-	1	1047	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	330					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.E330K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CCTGTGAGCTCGACGCTCGTG	0.577																																					p.E330K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	12						.						126.0	116.0	119.0					12																	123186843		2203	4300	6503	121752796	SO:0001583	missense	338442	exon1			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.988G>A	12.37:g.123186843C>T	ENSP00000375066:p.Glu330Lys		121752796	NM_177551	A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828834	0.32329	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.61742	0.08	5.5	3.47	0.39725	.	0.215234	0.29451	U	0.012119	T	0.33818	0.0876	L	0.44542	1.39	0.31309	N	0.687409	P	0.45348	0.856	B	0.27608	0.081	T	0.42103	-0.9471	10	0.08599	T	0.76	-23.8309	6.944	0.24508	0.166:0.7379:0.0:0.0961	.	330	Q8TDS4	HCAR2_HUMAN	K	330	ENSP00000375066:E330K	ENSP00000375066:E330K	E	-	1	0	HCAR2	121752796	0.698000	0.27777	0.655000	0.29622	0.162000	0.22319	1.008000	0.29872	0.655000	0.30866	0.563000	0.77884	GAG		0.577	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
MPHOSPH9	10198	broad.mit.edu	37	12	123645694	123645694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123645694C>A	ENST00000606320.1	-	22	3576	c.3370G>T	c.(3370-3372)Gaa>Taa	p.E1124*	MPHOSPH9_ENST00000302349.5_Nonsense_Mutation_p.E972*|MPHOSPH9_ENST00000541076.2_Nonsense_Mutation_p.E1094*|MPHOSPH9_ENST00000392425.3_Nonsense_Mutation_p.E972*			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1124						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E972*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGTCCTTTTCTTTTGTAAGT	0.343																																					p.E972X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2914T	12						.						56.0	55.0	55.0					12																	123645694		2203	4300	6503	122211647	SO:0001587	stop_gained	10198	exon18			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3370G>T	12.37:g.123645694C>A	ENSP00000475489:p.Glu1124*		122211647	NM_022782	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Nonsense_Mutation	SNP	ENST00000606320.1	37		.	.	.	.	.	.	.	.	.	.	C	41	8.549335	0.98859	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	.	.	.	5.8	5.8	0.92144	.	0.135962	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.0215	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	X	150;972;972	.	ENSP00000303597:E972X	E	-	1	0	MPHOSPH9	122211647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.758000	0.94735	0.563000	0.77884	GAA		0.343	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
SBNO1	55206	broad.mit.edu	37	12	123808274	123808274	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123808274G>A	ENST00000602398.1	-	16	2205	c.2078C>T	c.(2077-2079)tCg>tTg	p.S693L	SBNO1_ENST00000267176.4_Missense_Mutation_p.S692L|SBNO1_ENST00000602750.1_Missense_Mutation_p.S692L|SBNO1_ENST00000420886.2_Missense_Mutation_p.S693L			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	693					regulation of transcription, DNA-templated (GO:0006355)			p.S692L(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCTCTTGGCGAACTGTTGTT	0.388																																					p.S692L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2075T	12						.						59.0	60.0	59.0					12																	123808274		2203	4300	6503	122374227	SO:0001583	missense	55206	exon15			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2078C>T	12.37:g.123808274G>A	ENSP00000473665:p.Ser693Leu		122374227	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158682	0.57368	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.31769	1.48;1.48	5.79	5.79	0.91817	.	0.216427	0.41294	D	0.000918	T	0.26666	0.0652	L	0.47716	1.5	0.51767	D	0.999932	P;P;P	0.46327	0.659;0.844;0.876	B;B;B	0.32864	0.056;0.154;0.131	T	0.05007	-1.0912	10	0.27785	T	0.31	-17.0946	20.04	0.97581	0.0:0.0:1.0:0.0	.	693;692;691	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	L	693;692;692	ENSP00000387361:S693L;ENSP00000267176:S692L	ENSP00000267176:S692L	S	-	2	0	SBNO1	122374227	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.577000	0.82486	2.733000	0.93635	0.655000	0.94253	TCG		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
LRP6	4040	broad.mit.edu	37	12	12356241	12356241	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12356241A>C	ENST00000261349.4	-	3	619	c.543T>G	c.(541-543)atT>atG	p.I181M	LRP6_ENST00000543091.1_Missense_Mutation_p.I181M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	181	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I181M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGGCCAGTAAATTTCACTGT	0.378																																					p.I181M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T543G	12						.						130.0	123.0	126.0					12																	12356241		2203	4300	6503	12247508	SO:0001583	missense	4040	exon3			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.543T>G	12.37:g.12356241A>C	ENSP00000261349:p.Ile181Met		12247508	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283407	0.59867	.	.	ENSG00000070018	ENST00000261349;ENST00000543091;ENST00000535731	D;D;D	0.96745	-4.11;-4.11;-4.11	5.51	4.35	0.52113	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000007	D	0.97461	0.9169	M	0.75615	2.305	0.52099	D	0.999941	D;D	0.71674	0.997;0.998	D;D	0.85130	0.997;0.997	D	0.96615	0.9455	10	0.45353	T	0.12	.	10.8166	0.46580	0.7487:0.0:0.0:0.2512	.	181;181	F5H7J9;O75581	.;LRP6_HUMAN	M	181;181;30	ENSP00000261349:I181M;ENSP00000442472:I181M;ENSP00000439765:I30M	ENSP00000261349:I181M	I	-	3	3	LRP6	12247508	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.756000	0.38390	0.900000	0.36469	0.459000	0.35465	ATT		0.378	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
SBNO1	55206	broad.mit.edu	37	12	123815832	123815832	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123815832T>G	ENST00000602398.1	-	8	1127	c.1000A>C	c.(1000-1002)Atc>Ctc	p.I334L	SBNO1_ENST00000267176.4_Missense_Mutation_p.I333L|SBNO1_ENST00000602750.1_Missense_Mutation_p.I333L|SBNO1_ENST00000420886.2_Missense_Mutation_p.I334L			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	334					regulation of transcription, DNA-templated (GO:0006355)			p.I333L(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCATAGATGATTCCTGCTATC	0.438																																					p.I333L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A997C	12						.						159.0	141.0	147.0					12																	123815832		2203	4300	6503	122381785	SO:0001583	missense	55206	exon7			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1000A>C	12.37:g.123815832T>G	ENSP00000473665:p.Ile334Leu		122381785	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270237	0.59540	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.92348	-3.02;-3.02	5.83	4.68	0.58851	Helicase/UvrB domain (1);	0.053100	0.64402	D	0.000001	D	0.90518	0.7029	M	0.67700	2.07	0.58432	D	0.999999	B;B;B	0.23128	0.08;0.032;0.047	B;B;B	0.26864	0.074;0.044;0.023	D	0.86892	0.2049	10	0.46703	T	0.11	-16.3253	11.8661	0.52495	0.0:0.0681:0.0:0.9319	.	334;333;332	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	L	334;333;333	ENSP00000387361:I334L;ENSP00000267176:I333L	ENSP00000267176:I333L	I	-	1	0	SBNO1	122381785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.423000	0.52756	1.032000	0.39892	0.459000	0.35465	ATC		0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
TCTN2	79867	broad.mit.edu	37	12	124163819	124163819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124163819C>T	ENST00000303372.5	+	5	675	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	TCTN2_ENST00000426174.2_Missense_Mutation_p.R182C	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	183	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.R183C(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGTGATGTTCGCTGCTGCTG	0.448																																					p.R183C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	12						.						218.0	192.0	201.0					12																	124163819		2203	4300	6503	122729772	SO:0001583	missense	79867	exon5			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.547C>T	12.37:g.124163819C>T	ENSP00000304941:p.Arg183Cys		122729772	NM_024809	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233387	0.79688	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83250	-1.7;-1.7	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.074229	0.56097	D	0.000037	D	0.90089	0.6904	M	0.76574	2.34	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.63033	0.91;0.91	D	0.90990	0.4834	10	0.59425	D	0.04	-12.1279	18.0585	0.89370	0.0:1.0:0.0:0.0	.	182;183	A8K7Y8;Q96GX1	.;TECT2_HUMAN	C	182;183	ENSP00000395171:R182C;ENSP00000304941:R183C	ENSP00000304941:R183C	R	+	1	0	TCTN2	122729772	0.998000	0.40836	0.978000	0.43139	0.967000	0.64934	3.938000	0.56583	2.343000	0.79666	0.416000	0.27883	CGC		0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
DNAH10	196385	broad.mit.edu	37	12	124256209	124256209	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124256209A>C	ENST00000409039.3	+	3	202	c.177A>C	c.(175-177)gaA>gaC	p.E59D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	59	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E59D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGATGAAGAAATGGACAAAG	0.433																																					p.E59D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A177C	12						.						85.0	78.0	81.0					12																	124256209		1853	4091	5944	122822162	SO:0001583	missense	196385	exon3			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.177A>C	12.37:g.124256209A>C	ENSP00000386770:p.Glu59Asp		122822162	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	8.346	0.829883	0.16749	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	3.85	-6.99	0.01605	.	.	.	.	.	T	0.08223	0.0205	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38802	-0.9644	9	0.10902	T	0.67	.	3.7268	0.08477	0.2825:0.5005:0.0955:0.1215	.	59	Q8IVF4	DYH10_HUMAN	D	59	ENSP00000386770:E59D	ENSP00000386770:E59D	E	+	3	2	DNAH10	122822162	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.067000	0.00620	-1.026000	0.03330	0.482000	0.46254	GAA		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124265846	124265846	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124265846G>A	ENST00000409039.3	+	6	683	c.658G>A	c.(658-660)Ggt>Agt	p.G220S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	220	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G38S(1)|p.G220S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAACTTGAAGGTAAGGTTTC	0.353																																					p.G220S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G658A	12						.						87.0	92.0	90.0					12																	124265846		2203	4300	6503	122831799	SO:0001630	splice_region_variant	196385	exon6			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.658+1G>A	12.37:g.124265846G>A			122831799	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562831	0.45694	.	.	ENSG00000197653	ENST00000409039	T	0.26067	1.76	4.99	4.99	0.66335	.	0.416726	0.20369	U	0.093681	T	0.31104	0.0786	L	0.59436	1.845	0.80722	D	1	B	0.23185	0.081	B	0.24269	0.052	T	0.09552	-1.0669	10	0.52906	T	0.07	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	220	Q8IVF4	DYH10_HUMAN	S	220	ENSP00000386770:G220S	ENSP00000386770:G220S	G	+	1	0	DNAH10	122831799	1.000000	0.71417	0.992000	0.48379	0.373000	0.29922	7.436000	0.80404	2.324000	0.78689	0.436000	0.28706	GGT		0.353	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Missense_Mutation
DNAH10	196385	broad.mit.edu	37	12	124281300	124281300	+	Missense_Mutation	SNP	C	C	A	rs137932597	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124281300C>A	ENST00000409039.3	+	12	1755	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	577	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S395Y(1)|p.S577Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGGAACGATCTCTGTTCTTT	0.418													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17682	0.0		0.0	False		,,,				2504	0.0				p.S577Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1730A	12						.	C	TYR/SER	0,4406		0,0,2203	150.0	131.0	138.0		1730	5.3	0.1	12	dbSNP_134	138	5,8595	4.3+/-15.6	0,5,4295	yes	missense	DNAH10	NM_207437.3	144	0,5,6498	AA,AC,CC		0.0581,0.0,0.0384	possibly-damaging	577/4472	124281300	5,13001	2203	4300	6503	122847253	SO:0001583	missense	196385	exon12			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1730C>A	12.37:g.124281300C>A	ENSP00000386770:p.Ser577Tyr		122847253	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.32	2.201059	0.38905	0.0	5.81E-4	ENSG00000197653	ENST00000409039	T	0.57907	0.37	5.35	5.35	0.76521	Dynein heavy chain, domain-1 (1);	0.244211	0.26923	N	0.021813	T	0.77445	0.4131	M	0.87758	2.905	0.36991	D	0.894791	D;D;P	0.76494	0.999;0.999;0.871	D;D;P	0.79784	0.973;0.993;0.673	D	0.83622	0.0140	10	0.62326	D	0.03	.	19.0759	0.93161	0.0:1.0:0.0:0.0	.	577;452;577	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	Y	577	ENSP00000386770:S577Y	ENSP00000386770:S577Y	S	+	2	0	DNAH10	122847253	0.952000	0.32445	0.143000	0.22291	0.053000	0.15095	2.356000	0.44116	2.506000	0.84524	0.650000	0.86243	TCT		0.418	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124293364	124293364	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124293364C>A	ENST00000409039.3	+	18	2679	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	885	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S703Y(1)|p.S885Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTTTTAATTCTTTGATCCTT	0.433																																					p.S885Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2654A	12						.						302.0	278.0	286.0					12																	124293364		2203	4300	6503	122859317	SO:0001583	missense	196385	exon18			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2654C>A	12.37:g.124293364C>A	ENSP00000386770:p.Ser885Tyr		122859317	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215573	0.22373	.	.	ENSG00000197653	ENST00000409039	T	0.22743	1.94	5.72	4.82	0.62117	.	0.996867	0.08124	N	0.994237	T	0.35422	0.0931	L	0.50333	1.59	0.09310	N	1	P;P;P	0.50943	0.94;0.829;0.833	P;B;B	0.49953	0.627;0.396;0.372	T	0.39502	-0.9611	10	0.72032	D	0.01	.	16.6635	0.85247	0.0:0.8701:0.1299:0.0	.	885;760;885	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	Y	885	ENSP00000386770:S885Y	ENSP00000386770:S885Y	S	+	2	0	DNAH10	122859317	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	1.236000	0.32683	1.400000	0.46741	0.655000	0.94253	TCT		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124297904	124297904	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124297904G>A	ENST00000409039.3	+	19	3009	c.2984G>A	c.(2983-2985)cGg>cAg	p.R995Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	995	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R813Q(1)|p.R995Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAATGGAAGCGGTATCGACCT	0.393																																					p.R995Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2984A	12						.						133.0	129.0	131.0					12																	124297904		2203	4300	6503	122863857	SO:0001583	missense	196385	exon19			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2984G>A	12.37:g.124297904G>A	ENSP00000386770:p.Arg995Gln		122863857	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483443	0.63962	.	.	ENSG00000197653	ENST00000409039	T	0.21361	2.01	5.83	4.02	0.46733	.	0.495836	0.17768	N	0.162679	T	0.42245	0.1194	M	0.82056	2.57	0.30791	N	0.740882	D;D;B	0.62365	0.991;0.987;0.359	P;P;B	0.59288	0.855;0.769;0.032	T	0.49021	-0.8982	10	0.42905	T	0.14	.	11.6895	0.51508	0.1964:0.0:0.8036:0.0	.	995;870;995	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	Q	995	ENSP00000386770:R995Q	ENSP00000386770:R995Q	R	+	2	0	DNAH10	122863857	0.997000	0.39634	0.805000	0.32314	0.940000	0.58332	2.793000	0.47845	0.821000	0.34540	0.563000	0.77884	CGG		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124319972	124319972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124319972G>T	ENST00000409039.3	+	27	4470	c.4445G>T	c.(4444-4446)aGa>aTa	p.R1482I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1482	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R74I(1)|p.R1482I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGTTCAGAGAAAATGGATG	0.378																																					p.R1482I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4445T	12						.						124.0	111.0	115.0					12																	124319972		1873	4108	5981	122885925	SO:0001583	missense	196385	exon27			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4445G>T	12.37:g.124319972G>T	ENSP00000386770:p.Arg1482Ile		122885925	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228404	0.79576	.	.	ENSG00000197653	ENST00000409039	T	0.64618	-0.11	5.69	5.69	0.88448	Dynein heavy chain, domain-2 (1);	0.073622	0.52532	U	0.000069	D	0.84547	0.5496	M	0.93150	3.385	0.80722	D	1	D	0.56746	0.977	D	0.65323	0.934	D	0.87870	0.2670	10	0.72032	D	0.01	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	1482	Q8IVF4	DYH10_HUMAN	I	1482	ENSP00000386770:R1482I	ENSP00000386770:R1482I	R	+	2	0	DNAH10	122885925	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.396000	0.73234	2.682000	0.91365	0.650000	0.86243	AGA		0.378	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124325937	124325937	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124325937G>T	ENST00000409039.3	+	29	4876	c.4851G>T	c.(4849-4851)atG>atT	p.M1617I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1617	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M209I(1)|p.M1617I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTCCGCGATGATTTCAGCAG	0.502																																					p.M1617I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4851T	12						.						239.0	240.0	240.0					12																	124325937		2026	4168	6194	122891890	SO:0001583	missense	196385	exon29			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4851G>T	12.37:g.124325937G>T	ENSP00000386770:p.Met1617Ile		122891890	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878401	0.51801	.	.	ENSG00000197653	ENST00000409039	T	0.65178	-0.14	5.23	5.23	0.72850	Dynein heavy chain, domain-2 (1);	0.130953	0.49305	U	0.000144	T	0.72622	0.3483	M	0.79614	2.46	0.53688	D	0.999976	P	0.50272	0.933	P	0.49477	0.612	T	0.75642	-0.3247	10	0.48119	T	0.1	.	18.7853	0.91952	0.0:0.0:1.0:0.0	.	1617	Q8IVF4	DYH10_HUMAN	I	1617	ENSP00000386770:M1617I	ENSP00000386770:M1617I	M	+	3	0	DNAH10	122891890	1.000000	0.71417	0.997000	0.53966	0.377000	0.30045	7.634000	0.83273	2.457000	0.83068	0.561000	0.74099	ATG		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124337884	124337884	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124337884C>A	ENST00000409039.3	+	35	6094	c.6069C>A	c.(6067-6069)tcC>tcA	p.S2023S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2023					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S615S(1)|p.S2023S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGAGGCTCCTCTGACCTTA	0.552																																					p.S2023S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6069A	12						.						41.0	44.0	43.0					12																	124337884		2024	4188	6212	122903837	SO:0001819	synonymous_variant	196385	exon35			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6069C>A	12.37:g.124337884C>A			122903837	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124349171	124349171	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124349171C>T	ENST00000409039.3	+	39	6609	c.6584C>T	c.(6583-6585)gCt>gTt	p.A2195V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2195	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A787V(1)|p.A2195V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATGTGGATGCTCTATGGGTG	0.478																																					p.A2195V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6584T	12						.						156.0	152.0	153.0					12																	124349171		1980	4175	6155	122915124	SO:0001583	missense	196385	exon39			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6584C>T	12.37:g.124349171C>T	ENSP00000386770:p.Ala2195Val		122915124	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	33	5.259740	0.95368	.	.	ENSG00000197653	ENST00000409039	D	0.90788	-2.73	5.46	5.46	0.80206	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	U	0.000001	D	0.97343	0.9131	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98459	1.0595	10	0.72032	D	0.01	.	19.3147	0.94207	0.0:1.0:0.0:0.0	.	2195	Q8IVF4	DYH10_HUMAN	V	2195	ENSP00000386770:A2195V	ENSP00000386770:A2195V	A	+	2	0	DNAH10	122915124	1.000000	0.71417	0.779000	0.31741	0.783000	0.44284	7.818000	0.86416	2.559000	0.86315	0.563000	0.77884	GCT		0.478	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124358157	124358157	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124358157G>T	ENST00000409039.3	+	45	7509	c.7484G>T	c.(7483-7485)aGa>aTa	p.R2495I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2495	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2495I(1)|p.R1087I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATATCCAAAGAAATTTAGAA	0.458																																					p.R2495I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7484T	12						.						73.0	68.0	69.0					12																	124358157		1913	4136	6049	122924110	SO:0001583	missense	196385	exon45			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7484G>T	12.37:g.124358157G>T	ENSP00000386770:p.Arg2495Ile		122924110	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889393	0.91889	.	.	ENSG00000197653	ENST00000409039	T	0.49720	0.77	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	T	0.61388	0.2343	M	0.87547	2.89	0.80722	D	1	P	0.42871	0.792	B	0.43194	0.411	T	0.67968	-0.5533	10	0.49607	T	0.09	.	19.4169	0.94704	0.0:0.0:1.0:0.0	.	2495	Q8IVF4	DYH10_HUMAN	I	2495	ENSP00000386770:R2495I	ENSP00000386770:R2495I	R	+	2	0	DNAH10	122924110	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	9.808000	0.99193	2.599000	0.87857	0.561000	0.74099	AGA		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124362407	124362407	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124362407G>A	ENST00000409039.3	+	47	7995	c.7970G>A	c.(7969-7971)cGa>cAa	p.R2657Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2657	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2657Q(1)|p.R1249Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCAACCTTCGAGATCTCTCA	0.433																																					p.R2657Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7970A	12						.						171.0	175.0	174.0					12																	124362407		1967	4148	6115	122928360	SO:0001583	missense	196385	exon47			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7970G>A	12.37:g.124362407G>A	ENSP00000386770:p.Arg2657Gln		122928360	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	36	5.646461	0.96704	.	.	ENSG00000197653	ENST00000409039	T	0.67698	-0.28	5.46	5.46	0.80206	.	0.000000	0.64402	U	0.000005	D	0.89904	0.6850	H	0.98818	4.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.93874	0.7165	10	0.87932	D	0	.	18.9035	0.92452	0.0:0.0:1.0:0.0	.	2657	Q8IVF4	DYH10_HUMAN	Q	2657	ENSP00000386770:R2657Q	ENSP00000386770:R2657Q	R	+	2	0	DNAH10	122928360	1.000000	0.71417	0.542000	0.28115	0.918000	0.54935	9.679000	0.98649	2.572000	0.86782	0.555000	0.69702	CGA		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124364286	124364286	+	Missense_Mutation	SNP	G	G	A	rs191652249		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124364286G>A	ENST00000409039.3	+	49	8243	c.8218G>A	c.(8218-8220)Gaa>Aaa	p.E2740K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2740					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2740K(1)|p.E1332K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTCTGCACGAAGGAGAACC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16837	0.001		0.0	False		,,,				2504	0.0				p.E2740K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8218A	12						.						244.0	234.0	237.0					12																	124364286		2056	4193	6249	122930239	SO:0001583	missense	196385	exon49			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8218G>A	12.37:g.124364286G>A	ENSP00000386770:p.Glu2740Lys		122930239	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.03	1.814453	0.32053	.	.	ENSG00000197653	ENST00000409039	T	0.22945	1.93	5.76	5.76	0.90799	.	0.477764	0.18074	U	0.152535	T	0.32823	0.0842	L	0.60904	1.88	0.48762	D	0.999708	B	0.18461	0.028	B	0.21360	0.034	T	0.05194	-1.0900	10	0.49607	T	0.09	.	19.9616	0.97254	0.0:0.0:1.0:0.0	.	2740	Q8IVF4	DYH10_HUMAN	K	2740	ENSP00000386770:E2740K	ENSP00000386770:E2740K	E	+	1	0	DNAH10	122930239	1.000000	0.71417	0.772000	0.31596	0.044000	0.14063	6.192000	0.72069	2.724000	0.93272	0.561000	0.74099	GAA		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124382417	124382417	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124382417G>T	ENST00000409039.3	+	54	9052	c.9027G>T	c.(9025-9027)caG>caT	p.Q3009H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3009	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q3009H(1)|p.Q1601H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTTTCTACAGAAATTGAGGC	0.398																																					p.Q3009H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9027T	12						.						79.0	79.0	79.0					12																	124382417		1864	4111	5975	122948370	SO:0001583	missense	196385	exon54			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9027G>T	12.37:g.124382417G>T	ENSP00000386770:p.Gln3009His		122948370	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557502	0.27827	.	.	ENSG00000197653	ENST00000409039	T	0.42513	0.97	4.92	3.95	0.45737	Dynein heavy chain, P-loop containing D4 domain (1);	0.181088	0.49916	D	0.000136	T	0.59797	0.2220	M	0.84511	2.7	0.45161	D	0.99817	P	0.37176	0.586	P	0.49637	0.617	T	0.63457	-0.6633	10	0.45353	T	0.12	.	13.8137	0.63278	0.0856:0.0:0.9144:0.0	.	3009	Q8IVF4	DYH10_HUMAN	H	3009	ENSP00000386770:Q3009H	ENSP00000386770:Q3009H	Q	+	3	2	DNAH10	122948370	1.000000	0.71417	0.998000	0.56505	0.085000	0.17905	2.359000	0.44142	2.549000	0.85964	0.561000	0.74099	CAG		0.398	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124395209	124395209	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124395209A>G	ENST00000409039.3	+	58	9795	c.9770A>G	c.(9769-9771)aAa>aGa	p.K3257R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3257	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3257R(1)|p.K1849R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATCAAGCCCAAAAGAGAGAAG	0.453																																					p.K3257R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9770G	12						.						66.0	68.0	67.0					12																	124395209		1960	4145	6105	122961162	SO:0001583	missense	196385	exon58			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9770A>G	12.37:g.124395209A>G	ENSP00000386770:p.Lys3257Arg		122961162	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.11|18.11	3.550414|3.550414	0.65311|0.65311	.|.	.|.	ENSG00000197653|ENSG00000197653	ENST00000540041|ENST00000409039	T|T	0.80033|0.79653	-1.33|-1.29	4.96|4.96	3.8|3.8	0.43715|0.43715	.|Dynein heavy chain, coiled coil stalk (1);	0.114956|0.114956	0.56097|0.56097	N|N	0.000021|0.000021	D|D	0.92182|0.92182	0.7521|0.7521	H|H	0.97635|0.97635	4.045|4.045	0.43593|0.43593	D|D	0.995946|0.995946	.|D	.|0.76494	.|0.999	.|D	.|0.77557	.|0.99	D|D	0.91668|0.91668	0.5348|0.5348	8|10	0.87932|0.41790	D|T	0|0.15	.|.	10.5915|10.5915	0.45312|0.45312	0.9235:0.0:0.0765:0.0|0.9235:0.0:0.0765:0.0	.|.	.|3257	.|Q8IVF4	.|DYH10_HUMAN	E|R	185|3257	ENSP00000445308:K185E|ENSP00000386770:K3257R	ENSP00000445308:K185E|ENSP00000386770:K3257R	K|K	+|+	1|2	0|0	DNAH10|DNAH10	122961162|122961162	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.756000|0.756000	0.42949|0.42949	7.229000|7.229000	0.78088|0.78088	0.737000|0.737000	0.32582|0.32582	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH10	196385	broad.mit.edu	37	12	124401112	124401112	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124401112G>T	ENST00000409039.3	+	62	10502	c.10477G>T	c.(10477-10479)Gac>Tac	p.D3493Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3493	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D3493Y(1)|p.D2085Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTGTGATTGACAACGTCTT	0.423																																					p.D3493Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10477T	12						.						100.0	99.0	99.0					12																	124401112		1909	4115	6024	122967065	SO:0001583	missense	196385	exon62			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10477G>T	12.37:g.124401112G>T	ENSP00000386770:p.Asp3493Tyr		122967065	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425846	0.43020	.	.	ENSG00000197653	ENST00000409039	T	0.27720	1.65	4.47	4.47	0.54385	.	0.116934	0.56097	D	0.000029	T	0.56062	0.1960	M	0.71296	2.17	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.62868	-0.6763	10	0.87932	D	0	.	17.1377	0.86744	0.0:0.0:1.0:0.0	.	3493	Q8IVF4	DYH10_HUMAN	Y	3493	ENSP00000386770:D3493Y	ENSP00000386770:D3493Y	D	+	1	0	DNAH10	122967065	1.000000	0.71417	0.606000	0.28943	0.070000	0.16714	8.010000	0.88615	2.033000	0.60031	0.561000	0.74099	GAC		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
CCDC92	80212	broad.mit.edu	37	12	124422300	124422300	+	Missense_Mutation	SNP	C	C	T	rs184378821		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124422300C>T	ENST00000238156.3	-	5	655	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	CCDC92_ENST00000545135.1_Missense_Mutation_p.E84K|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.E84K|DNAH10OS_ENST00000514254.2_5'Flank	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	101						centriole (GO:0005814)		p.E101K(1)		large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCAGCATTTTCGTTCTCTTTC	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21761	0.0		0.0	False		,,,				2504	0.0				p.E101K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	12						.						242.0	229.0	233.0					12																	124422300		2203	4300	6503	122988253	SO:0001583	missense	80212	exon5			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.301G>A	12.37:g.124422300C>T	ENSP00000238156:p.Glu101Lys		122988253	NM_025140	B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	CCDS9256.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.9	4.688280	0.88639	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556	T;T;T;T;T	0.49432	1.71;1.72;1.72;0.78;0.87	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.70699	-0.4800	10	0.35671	T	0.21	-24.9873	13.9509	0.64116	0.0:0.9266:0.0:0.0734	.	101	Q53HC0	CCD92_HUMAN	K	101;84;84;101;84	ENSP00000238156:E101K;ENSP00000439526:E84K;ENSP00000440024:E84K;ENSP00000439441:E101K;ENSP00000438281:E84K	ENSP00000238156:E101K	E	-	1	0	CCDC92	122988253	1.000000	0.71417	0.054000	0.19295	0.005000	0.04900	7.713000	0.84693	1.310000	0.45006	0.555000	0.69702	GAA		0.453	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140	
MANSC1	54682	broad.mit.edu	37	12	12483101	12483101	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12483101G>T	ENST00000535902.1	-	4	1719	c.1156C>A	c.(1156-1158)Ctt>Att	p.L386I	MANSC1_ENST00000396349.3_Missense_Mutation_p.L352I|MANSC1_ENST00000545735.1_Missense_Mutation_p.L305I			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	386						integral component of membrane (GO:0016021)		p.L386I(1)|p.L386V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GACCCGATAAGAAGCCATTTT	0.527																																					p.L386I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1156A	12						.						76.0	78.0	77.0					12																	12483101		2203	4300	6503	12374368	SO:0001583	missense	54682	exon4			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1156C>A	12.37:g.12483101G>T	ENSP00000438205:p.Leu386Ile		12374368	NM_018050	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.496059	0.64186	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.63744	0.24;0.23;-0.06	5.24	5.24	0.73138	.	0.000000	0.35646	N	0.003069	T	0.78767	0.4335	M	0.78049	2.395	0.35198	D	0.774037	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.987;0.991;0.991	D	0.85835	0.1394	10	0.87932	D	0	-15.4925	14.3004	0.66346	0.0:0.0:1.0:0.0	.	320;352;386	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	I	386;352;305;305	ENSP00000438205:L386I;ENSP00000379638:L352I;ENSP00000445303:L305I	ENSP00000347765:L305I	L	-	1	0	MANSC1	12374368	1.000000	0.71417	0.816000	0.32577	0.451000	0.32288	4.742000	0.62103	2.449000	0.82847	0.491000	0.48974	CTT		0.527	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050	
ZNF664	144348	broad.mit.edu	37	12	124496743	124496743	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:124496743C>A	ENST00000539644.1	+	6	1882	c.52C>A	c.(52-54)Ctt>Att	p.L18I	ZNF664_ENST00000337815.4_Missense_Mutation_p.L18I|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000392404.3_Missense_Mutation_p.L18I|ZNF664_ENST00000538932.2_Missense_Mutation_p.L18I			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	18					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.L18I(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAGAGCAGATCTTTTTATGCA	0.358																																					p.L18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C52A	12						.						63.0	68.0	66.0					12																	124496743		2203	4300	6503	123062696	SO:0001583	missense	144348	exon6				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.52C>A	12.37:g.124496743C>A	ENSP00000441405:p.Leu18Ile		123062696	NM_152437	B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903918	0.72754	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.4	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36200	N	0.002733	T	0.51517	0.1679	M	0.87180	2.865	0.35143	D	0.769058	B	0.10296	0.003	B	0.35727	0.209	T	0.59783	-0.7389	9	.	.	.	-23.8451	8.5154	0.33242	0.0:0.8985:0.0:0.1015	.	18	Q8N3J9	ZN664_HUMAN	I	18	ENSP00000441405:L18I;ENSP00000376205:L18I;ENSP00000440645:L18I;ENSP00000337320:L18I	.	L	+	1	0	ZNF664	123062696	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	3.651000	0.54431	2.728000	0.93425	0.655000	0.94253	CTT		0.358	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437	
SCARB1	949	broad.mit.edu	37	12	125302241	125302241	+	Missense_Mutation	SNP	C	C	T	rs371712274		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:125302241C>T	ENST00000415380.2	-	2	264	c.139G>A	c.(139-141)Gac>Aac	p.D47N	SCARB1_ENST00000540495.1_Missense_Mutation_p.D10N|SCARB1_ENST00000261693.6_Missense_Mutation_p.D47N|SCARB1_ENST00000339570.5_Missense_Mutation_p.D47N|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.D47N|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Missense_Mutation_p.D6N|SCARB1_ENST00000544327.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	47					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.D47N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTACTGGGGTCGATGCGCACG	0.582																																					p.D47N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	12						.						111.0	113.0	112.0					12																	125302241		2203	4300	6503	123868194	SO:0001583	missense	949	exon2			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.139G>A	12.37:g.125302241C>T	ENSP00000414979:p.Asp47Asn		123868194	NM_005505	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	C	17.47	3.396507	0.62177	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.29	3.42	0.39159	.	0.050196	0.85682	D	0.000000	T	0.61388	0.2343	L	0.46885	1.475	0.51012	D	0.999904	P;P;P;P;B;B	0.49358	0.736;0.494;0.923;0.923;0.171;0.439	B;B;B;B;B;B	0.40534	0.297;0.196;0.332;0.332;0.07;0.086	T	0.63184	-0.6694	10	0.46703	T	0.11	-58.0068	11.068	0.47987	0.0:0.8013:0.128:0.0707	.	6;47;47;47;47;47	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	N	47;47;47;47;6;10;47	ENSP00000343795:D47N;ENSP00000414979:D47N;ENSP00000261693:D47N;ENSP00000442862:D47N;ENSP00000446107:D6N;ENSP00000443286:D10N;ENSP00000443454:D47N	ENSP00000261693:D47N	D	-	1	0	SCARB1	123868194	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	2.663000	0.46774	1.211000	0.43351	0.555000	0.69702	GAC		0.582	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
DHX37	57647	broad.mit.edu	37	12	125470724	125470724	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:125470724G>A	ENST00000308736.2	-	2	292	c.194C>T	c.(193-195)tCg>tTg	p.S65L		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	65							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S65L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCCTTCTTCGACAGGGGAGG	0.507																																					p.S65L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C194T	12						.						159.0	154.0	156.0					12																	125470724		2203	4300	6503	124036677	SO:0001583	missense	57647	exon2			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.194C>T	12.37:g.125470724G>A	ENSP00000311135:p.Ser65Leu		124036677	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	5.546	0.285652	0.10513	.	.	ENSG00000150990	ENST00000308736	T	0.10005	2.92	3.82	3.82	0.43975	.	1.082840	0.07061	N	0.833758	T	0.12433	0.0302	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25916	-1.0118	10	0.31617	T	0.26	2.2816	5.7929	0.18371	0.1103:0.2005:0.6892:0.0	.	65	Q8IY37	DHX37_HUMAN	L	65	ENSP00000311135:S65L	ENSP00000311135:S65L	S	-	2	0	DHX37	124036677	0.025000	0.19082	0.011000	0.14972	0.247000	0.25773	2.140000	0.42159	1.835000	0.53391	0.491000	0.48974	TCG		0.507	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
DUSP16	80824	broad.mit.edu	37	12	12630396	12630396	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12630396C>T	ENST00000228862.2	-	7	2000	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	DUSP16_ENST00000545864.1_5'Flank|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	457					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E457K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGACTGGTTTCGGGAGTCTGC	0.527																																					p.E457K	Ovarian(158;443 1896 15437 36069 46477)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1369A	12						.						108.0	107.0	107.0					12																	12630396		2203	4300	6503	12521663	SO:0001583	missense	80824	exon7			AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1369G>A	12.37:g.12630396C>T	ENSP00000228862:p.Glu457Lys		12521663	NM_030640	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044309	0.55110	.	.	ENSG00000111266	ENST00000228862	T	0.01947	4.54	5.8	5.8	0.92144	.	0.504675	0.19206	N	0.120057	T	0.04137	0.0115	L	0.59436	1.845	0.80722	D	1	P;P	0.50528	0.87;0.936	B;B	0.37144	0.184;0.242	T	0.52079	-0.8623	10	0.44086	T	0.13	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	457;457	Q9BY84;Q96N49	DUS16_HUMAN;.	K	457	ENSP00000228862:E457K	ENSP00000228862:E457K	E	-	1	0	DUSP16	12521663	1.000000	0.71417	0.425000	0.26659	0.215000	0.24574	5.482000	0.66833	2.735000	0.93741	0.655000	0.94253	GAA		0.527	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640	
GPR19	2842	broad.mit.edu	37	12	12814224	12814224	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:12814224C>A	ENST00000540510.1	-	2	1351	c.1159G>T	c.(1159-1161)Gac>Tac	p.D387Y	GPR19_ENST00000332427.2_Missense_Mutation_p.D387Y			P46093	GPR4_HUMAN	G protein-coupled receptor 19	0					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D387Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		TAGATCGAGTCTTTGGTAATA	0.393																																					p.D387Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159T	12						.						155.0	143.0	147.0					12																	12814224		2203	4300	6503	12705491	SO:0001583	missense	2842	exon4				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1159G>T	12.37:g.12814224C>A	ENSP00000441832:p.Asp387Tyr		12705491	NM_006143	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000540510.1	37	CCDS8652.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996144	0.74703	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	T;T	0.70045	-0.45;-0.45	5.64	5.64	0.86602	.	0.162498	0.51477	D	0.000082	T	0.69860	0.3158	N	0.19112	0.55	0.58432	D	0.999994	D	0.71674	0.998	P	0.60173	0.87	T	0.73512	-0.3959	10	0.62326	D	0.03	-29.1788	19.3003	0.94141	0.0:1.0:0.0:0.0	.	387	Q15760	GPR19_HUMAN	Y	387	ENSP00000441832:D387Y;ENSP00000333744:D387Y	ENSP00000333744:D387Y	D	-	1	0	GPR19	12705491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.071000	0.71229	2.658000	0.90341	0.650000	0.86243	GAC		0.393	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143	
TMEM132B	114795	broad.mit.edu	37	12	126128824	126128824	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:126128824G>T	ENST00000299308.3	+	6	1633	c.1625G>T	c.(1624-1626)aGa>aTa	p.R542I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R54I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	542						integral component of membrane (GO:0016021)		p.R542I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGCCAACAGAAGGTGAGGA	0.572																																					p.R542I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1625T	12						.						37.0	39.0	39.0					12																	126128824		1934	4150	6084	124694777	SO:0001583	missense	114795	exon6			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1625G>T	12.37:g.126128824G>T	ENSP00000299308:p.Arg542Ile		124694777	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015590	0.35511	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.20463	2.07;2.07	5.52	1.1	0.20463	.	0.275183	0.30519	N	0.009451	T	0.20047	0.0482	L	0.52905	1.665	0.54753	D	0.999986	P	0.49559	0.925	P	0.44990	0.466	T	0.02081	-1.1217	10	0.45353	T	0.12	.	6.834	0.23925	0.6314:0.0:0.3686:0.0	.	542	Q14DG7	T132B_HUMAN	I	542;54	ENSP00000299308:R542I;ENSP00000440436:R54I	ENSP00000299308:R542I	R	+	2	0	TMEM132B	124694777	1.000000	0.71417	0.407000	0.26434	0.027000	0.11550	2.944000	0.49034	0.296000	0.22592	-0.150000	0.13652	AGA		0.572	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
GLT1D1	144423	broad.mit.edu	37	12	129373226	129373226	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:129373226T>C	ENST00000442111.2	+	3	348	c.260T>C	c.(259-261)gTa>gCa	p.V87A	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V76A|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V87A			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	87					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V87A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGAACTGATGTAAATGAAGAT	0.448																																					p.V87A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T260C	12						.						108.0	95.0	99.0					12																	129373226		2203	4300	6503	127939179	SO:0001583	missense	144423	exon3				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.260T>C	12.37:g.129373226T>C	ENSP00000394692:p.Val87Ala		127939179	NM_144669	Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37		.	.	.	.	.	.	.	.	.	.	T	10.64	1.407290	0.25378	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.78924	-1.22;0.7;-1.22	5.4	5.4	0.78164	.	0.178001	0.46442	D	0.000300	T	0.66147	0.2760	N	0.24115	0.695	0.80722	D	1	P;B	0.35242	0.492;0.287	B;B	0.35607	0.206;0.053	T	0.64795	-0.6323	10	0.25106	T	0.35	-3.5586	14.6068	0.68486	0.0:0.0:0.0:1.0	.	76;87	F5H088;Q96MS3-2	.;.	A	87;87;76	ENSP00000394692:V87A;ENSP00000281703:V87A;ENSP00000438158:V76A	ENSP00000281703:V87A	V	+	2	0	GLT1D1	127939179	1.000000	0.71417	0.810000	0.32431	0.264000	0.26372	4.902000	0.63266	2.039000	0.60335	0.528000	0.53228	GTA		0.448	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
GLT1D1	144423	broad.mit.edu	37	12	129431920	129431920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:129431920G>T	ENST00000442111.2	+	10	785	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	GLT1D1_ENST00000542193.1_Nonsense_Mutation_p.E150*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.E238*|GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.E153*			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	233					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E153*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GATGCCTCAAGAAGATCTGCA	0.498																																					p.E153X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G457T	12						.						178.0	144.0	155.0					12																	129431920		2203	4300	6503	127997873	SO:0001587	stop_gained	144423	exon6				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.697G>T	12.37:g.129431920G>T	ENSP00000394692:p.Glu233*		127997873	NM_144669	Q86XG8	Nonsense_Mutation	SNP	ENST00000442111.2	37		.	.	.	.	.	.	.	.	.	.	G	15.24	2.775336	0.49786	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	.	.	.	5.66	5.66	0.87406	.	1.449630	0.03730	N	0.253234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-5.4445	13.4863	0.61369	0.0:0.0:0.8435:0.1565	.	.	.	.	X	233;153;238;150	.	ENSP00000281703:E153X	E	+	1	0	GLT1D1	127997873	0.976000	0.34144	0.034000	0.17996	0.001000	0.01503	2.145000	0.42207	2.648000	0.89879	0.655000	0.94253	GAA		0.498	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
TMEM132D	121256	broad.mit.edu	37	12	129559186	129559186	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:129559186G>T	ENST00000422113.2	-	9	2860	c.2534C>A	c.(2533-2535)tCt>tAt	p.S845Y	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S383Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	845					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.S845Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCCATAGAAGAACTGCCATA	0.527																																					p.S845Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2534A	12						.						119.0	113.0	115.0					12																	129559186		2203	4300	6503	128125139	SO:0001583	missense	121256	exon9			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2534C>A	12.37:g.129559186G>T	ENSP00000408581:p.Ser845Tyr		128125139	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491380	0.26774	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10763	2.84;3.63	4.2	2.17	0.27698	.	0.547632	0.17493	N	0.172271	T	0.18467	0.0443	M	0.80746	2.51	0.09310	N	1	P;P	0.47350	0.867;0.894	P;P	0.46362	0.509;0.514	T	0.05818	-1.0862	9	.	.	.	-5.4767	9.3608	0.38195	0.0864:0.1483:0.7653:0.0	.	845;383	Q14C87;Q14C87-2	T132D_HUMAN;.	Y	383;845	ENSP00000374092:S383Y;ENSP00000408581:S845Y	.	S	-	2	0	TMEM132D	128125139	0.995000	0.38212	0.164000	0.22755	0.170000	0.22686	5.191000	0.65110	2.033000	0.60031	0.462000	0.41574	TCT		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM132D	121256	broad.mit.edu	37	12	130184826	130184826	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130184826G>A	ENST00000422113.2	-	2	823	c.497C>T	c.(496-498)cCg>cTg	p.P166L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	166					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P166L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTCAGGCACGGCAGCTTCTC	0.662																																					p.P166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C497T	12						.						19.0	21.0	20.0					12																	130184826		2203	4297	6500	128750779	SO:0001583	missense	121256	exon2			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.497C>T	12.37:g.130184826G>A	ENSP00000408581:p.Pro166Leu		128750779	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040712	0.93685	.	.	ENSG00000151952	ENST00000422113	T	0.15372	2.43	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000009	T	0.49949	0.1587	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56092	-0.8036	9	.	.	.	-37.7966	19.0288	0.92946	0.0:0.0:1.0:0.0	.	166	Q14C87	T132D_HUMAN	L	166	ENSP00000408581:P166L	.	P	-	2	0	TMEM132D	128750779	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.553000	0.98118	2.472000	0.83506	0.555000	0.69702	CCG		0.662	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM132D	121256	broad.mit.edu	37	12	130185032	130185032	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130185032G>A	ENST00000422113.2	-	2	617	c.291C>T	c.(289-291)taC>taT	p.Y97Y	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	97					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Y97Y(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAAGGCCCGTAGCTGGCAT	0.488																																					p.Y97Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	12						.						65.0	65.0	65.0					12																	130185032		2203	4300	6503	128750985	SO:0001819	synonymous_variant	121256	exon2			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.291C>T	12.37:g.130185032G>A			128750985	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	CCDS9266.1																																																																																				0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
FZD10	11211	broad.mit.edu	37	12	130647677	130647677	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130647677G>A	ENST00000229030.4	+	1	674	c.190G>A	c.(190-192)Gca>Aca	p.A64T	FZD10_ENST00000539839.1_Missense_Mutation_p.G31D|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	64	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCAGCGCGAGGCAGCCATCCA	0.627																																					p.A64T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G190A	12						.																																			129213630	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.190G>A	12.37:g.130647677G>A	ENSP00000229030:p.Ala64Thr		129213630	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.32|11.32	1.605241|1.605241	0.28623|0.28623	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.81415|.	-1.49|.	4.4|4.4	3.51|3.51	0.40186|0.40186	Frizzled domain (5);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.79185|0.79185	0.4403|0.4403	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82484|0.82484	-0.0434|-0.0434	10|6	0.87932|0.87932	D|D	0|0	.|.	12.1678|12.1678	0.54139|0.54139	0.0844:0.0:0.9156:0.0|0.0844:0.0:0.9156:0.0	.|.	64|.	Q9ULW2|.	FZD10_HUMAN|.	T|D	64|31	ENSP00000229030:A64T|.	ENSP00000229030:A64T|ENSP00000438460:G31D	A|G	+|+	1|2	0|0	FZD10|FZD10	129213630|129213630	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.744000|0.744000	0.42396|0.42396	7.429000|7.429000	0.80309|0.80309	0.833000|0.833000	0.34828|0.34828	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.627	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FZD10	11211	broad.mit.edu	37	12	130648241	130648241	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130648241G>A	ENST00000229030.4	+	1	1238	c.754G>A	c.(754-756)Gac>Aac	p.D252N	FZD10_ENST00000539839.1_Missense_Mutation_p.R219Q|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	252					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D252N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTCCTCATCGACCCGGCCCG	0.657																																					p.D252N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G754A	12						.						116.0	101.0	106.0					12																	130648241		2203	4300	6503	129214194	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.754G>A	12.37:g.130648241G>A	ENSP00000229030:p.Asp252Asn		129214194	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.095534|3.095534	0.56075|0.56075	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.86562|.	-2.14|.	4.96|4.96	4.96|4.96	0.65561|0.65561	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.78188|0.78188	0.4244|0.4244	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D|.	0.55800|.	0.973|.	P|.	0.47430|.	0.547|.	T|T	0.81904|0.81904	-0.0719|-0.0719	10|6	0.87932|0.87932	D|D	0|0	.|.	18.2056|18.2056	0.89853|0.89853	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	252|.	Q9ULW2|.	FZD10_HUMAN|.	N|Q	252|219	ENSP00000229030:D252N|.	ENSP00000229030:D252N|ENSP00000438460:R219Q	D|R	+|+	1|2	0|0	FZD10|FZD10	129214194|129214194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.636000|9.636000	0.98440|0.98440	2.285000|2.285000	0.76669|0.76669	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FZD10	11211	broad.mit.edu	37	12	130648738	130648738	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130648738C>T	ENST00000229030.4	+	1	1735	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	FZD10_ENST00000539839.1_Missense_Mutation_p.R385C|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	417					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F417F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTCGGGCTTCGTGGCCCTGT	0.617																																					p.F417F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1251T	12						.						148.0	135.0	140.0					12																	130648738		2203	4300	6503	129214691	SO:0001819	synonymous_variant	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1251C>T	12.37:g.130648738C>T			129214691	NM_007197		Silent	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131531	0.21041	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	3.37	0.38596	.	.	.	.	.	T	0.64057	0.2564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63844	-0.6545	5	0.87932	D	0	.	8.2495	0.31708	0.0:0.613:0.0:0.387	.	.	.	.	C	385	.	ENSP00000438460:R385C	R	+	1	0	FZD10	129214691	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.344000	0.19962	0.573000	0.29400	0.561000	0.74099	CGT		0.617	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PIWIL1	9271	broad.mit.edu	37	12	130833931	130833931	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130833931A>C	ENST00000245255.3	+	8	1154	c.882A>C	c.(880-882)aaA>aaC	p.K294N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	294	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.K294N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AAGAACATAAATTTCAAGAAC	0.338																																					p.K294N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A882C	12						.						70.0	67.0	68.0					12																	130833931		2203	4300	6503	129399884	SO:0001583	missense	9271	exon8			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.882A>C	12.37:g.130833931A>C	ENSP00000245255:p.Lys294Asn		129399884	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	A	1.638	-0.517168	0.04171	.	.	ENSG00000125207	ENST00000245255	T	0.13307	2.6	5.85	-0.294	0.12831	Argonaute/Dicer protein, PAZ (4);	0.384439	0.32970	N	0.005425	T	0.04543	0.0124	N	0.04768	-0.165	0.31859	N	0.621184	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.40117	-0.9580	10	0.13108	T	0.6	-12.1051	5.5201	0.16927	0.4721:0.1476:0.3803:0.0	.	294;294	Q96J94;Q96J94-2	PIWL1_HUMAN;.	N	294	ENSP00000245255:K294N	ENSP00000245255:K294N	K	+	3	2	PIWIL1	129399884	0.516000	0.26218	0.537000	0.28052	0.939000	0.58152	0.383000	0.20651	-0.285000	0.09089	-0.274000	0.10170	AAA		0.338	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
PIWIL1	9271	broad.mit.edu	37	12	130839474	130839474	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130839474G>T	ENST00000245255.3	+	11	1485	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	405					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.D405Y(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGTGATGAAAGACTTAGCCGT	0.353																																					p.D405Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1213T	12						.						152.0	140.0	144.0					12																	130839474		2203	4300	6503	129405427	SO:0001583	missense	9271	exon11			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1213G>T	12.37:g.130839474G>T	ENSP00000245255:p.Asp405Tyr		129405427	NM_004764	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673482	0.67928	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.38	5.38	0.77491	Argonaute/Dicer protein, PAZ (3);	0.094101	0.64402	D	0.000001	T	0.44932	0.1317	M	0.89715	3.055	0.80722	D	1	D;B	0.56746	0.977;0.286	D;B	0.63381	0.914;0.364	T	0.54642	-0.8263	10	0.72032	D	0.01	-9.3986	18.1727	0.89751	0.0:0.0:1.0:0.0	.	405;405	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Y	405	ENSP00000245255:D405Y	ENSP00000245255:D405Y	D	+	1	0	PIWIL1	129405427	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.806000	0.86020	2.516000	0.84829	0.558000	0.71614	GAC		0.353	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
RIMBP2	23504	broad.mit.edu	37	12	130892274	130892274	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130892274G>A	ENST00000261655.4	-	16	3085	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	974	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.V974V(2)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGGTACCTCGACATCGACGT	0.567																																					p.V974V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2922T	12						.						469.0	360.0	397.0					12																	130892274		2203	4300	6503	129458227	SO:0001819	synonymous_variant	23504	exon16			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2922C>T	12.37:g.130892274G>A			129458227	NM_015347	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
RIMBP2	23504	broad.mit.edu	37	12	130907040	130907040	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:130907040C>T	ENST00000261655.4	-	13	2591	c.2428G>A	c.(2428-2430)Gct>Act	p.A810T	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	810					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A810T(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGAGGACCAGCGCTGCCACGG	0.572																																					p.A810T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2428A	12						.						49.0	42.0	44.0					12																	130907040		2203	4300	6503	129472993	SO:0001583	missense	23504	exon13			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2428G>A	12.37:g.130907040C>T	ENSP00000261655:p.Ala810Thr		129472993	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.363	0.625315	0.14257	.	.	ENSG00000060709	ENST00000261655	T	0.20463	2.07	4.9	2.07	0.26955	.	0.991588	0.08197	N	0.982914	T	0.15219	0.0367	L	0.36672	1.1	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.15009	-1.0452	10	0.09084	T	0.74	-0.9191	8.3202	0.32124	0.0:0.7288:0.128:0.1432	.	810	O15034	RIMB2_HUMAN	T	810	ENSP00000261655:A810T	ENSP00000261655:A810T	A	-	1	0	RIMBP2	129472993	0.090000	0.21635	0.001000	0.08648	0.338000	0.28826	0.670000	0.25157	0.127000	0.18452	-1.332000	0.01269	GCT		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPRC5D	55507	broad.mit.edu	37	12	13103217	13103217	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13103217G>A	ENST00000228887.1	-	1	101	c.102C>T	c.(100-102)atC>atT	p.I34I	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.I34I|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I34I(1)		kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTGTGACCACGATGCCAAGTA	0.532																																					p.I34I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	12						.						109.0	101.0	104.0					12																	13103217		2203	4300	6503	12994484	SO:0001819	synonymous_variant	55507	exon1			AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.102C>T	12.37:g.13103217G>A			12994484	NM_018654	Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	CCDS8658.1																																																																																				0.532	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1		
HEBP1	50865	broad.mit.edu	37	12	13140196	13140196	+	Missense_Mutation	SNP	C	C	A	rs375649105		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13140196C>A	ENST00000014930.4	-	3	446	c.288G>T	c.(286-288)aaG>aaT	p.K96N	HEBP1_ENST00000536942.1_Missense_Mutation_p.K96N|RP11-392P7.6_ENST00000499948.2_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	96					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)	p.K96N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CTTTTAATTTCTTCTGCAGAG	0.473																																					p.K96N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G288T	12						.						87.0	89.0	88.0					12																	13140196		2203	4300	6503	13031463	SO:0001583	missense	50865	exon3			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.288G>T	12.37:g.13140196C>A	ENSP00000014930:p.Lys96Asn		13031463	NM_015987	A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744729	0.49151	.	.	ENSG00000013583	ENST00000014930;ENST00000535636;ENST00000536942	T;T;T	0.21734	1.99;1.99;1.99	5.66	5.66	0.87406	Regulatory factor, effector, bacterial (1);	0.214710	0.50627	D	0.000109	T	0.20700	0.0498	L	0.43152	1.355	0.38235	D	0.941162	P	0.36144	0.539	B	0.41271	0.352	T	0.05084	-1.0907	10	0.16420	T	0.52	-16.0362	11.3851	0.49780	0.1405:0.7239:0.1356:0.0	.	96	Q9NRV9	HEBP1_HUMAN	N	96;25;96	ENSP00000014930:K96N;ENSP00000442020:K25N;ENSP00000441678:K96N	ENSP00000014930:K96N	K	-	3	2	HEBP1	13031463	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.926000	0.28804	2.830000	0.97506	0.655000	0.94253	AAG		0.473	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1		
RAN	5901	broad.mit.edu	37	12	131359223	131359223	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:131359223A>C	ENST00000543796.1	+	5	638	c.380A>C	c.(379-381)aAg>aCg	p.K127T	RAN_ENST00000392367.3_Missense_Mutation_p.K144T|RAN_ENST00000541630.1_Missense_Mutation_p.K39T|RAN_ENST00000392369.2_Missense_Mutation_p.K127T|RAN_ENST00000254675.3_Missense_Mutation_p.K39T			P62826	RAN_HUMAN	RAN, member RAS oncogene family	127					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.K127T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GTGGATATTAAGGACAGGAAA	0.408																																					p.K127T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A380C	12						.						113.0	98.0	103.0					12																	131359223		2203	4300	6503	129925176	SO:0001583	missense	5901	exon5			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.380A>C	12.37:g.131359223A>C	ENSP00000446215:p.Lys127Thr		129925176	NM_006325	A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	37	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492325	0.64074	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000535090;ENST00000392367	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.07	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	L	0.35542	1.07	0.80722	D	1	B;B	0.23854	0.092;0.092	B;B	0.34873	0.191;0.191	T	0.72581	-0.4250	10	0.87932	D	0	-17.8637	12.5276	0.56096	1.0:0.0:0.0:0.0	.	127;127	A8K3Z8;P62826	.;RAN_HUMAN	T	127;145;39;127;39;123;144	ENSP00000446215:K127T;ENSP00000396127:K145T;ENSP00000441210:K39T;ENSP00000376176:K127T;ENSP00000254675:K39T;ENSP00000444042:K123T;ENSP00000376174:K144T	ENSP00000254675:K39T	K	+	2	0	RAN	129925176	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.805000	0.91925	1.611000	0.50210	0.533000	0.62120	AAG		0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325	
SFSWAP	6433	broad.mit.edu	37	12	132212883	132212883	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:132212883C>T	ENST00000261674.4	+	7	1132	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R331C	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	331					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R331C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTTGTTCGTAAGGCACA	0.552																																					p.R331C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C991T	12						.						189.0	150.0	163.0					12																	132212883		2203	4300	6503	130778836	SO:0001583	missense	6433	exon7			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.991C>T	12.37:g.132212883C>T	ENSP00000261674:p.Arg331Cys		130778836	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847898	0.71603	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.24723	2.84;1.84;2.83	5.61	5.61	0.85477	.	0.103312	0.64402	D	0.000003	T	0.48822	0.1521	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.67725	0.953;0.855;0.938	T	0.40232	-0.9574	10	0.54805	T	0.06	-14.7473	17.8127	0.88620	0.0:1.0:0.0:0.0	.	331;331;268	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	C	331;268;124;331	ENSP00000261674:R331C;ENSP00000443045:R124C;ENSP00000437738:R331C	ENSP00000261674:R331C	R	+	1	0	SFSWAP	130778836	1.000000	0.71417	0.854000	0.33618	0.408000	0.30992	6.425000	0.73370	2.652000	0.90054	0.655000	0.94253	CGT		0.552	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
KIAA1467	57613	broad.mit.edu	37	12	13214669	13214669	+	Missense_Mutation	SNP	G	G	T	rs371752869		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13214669G>T	ENST00000197268.8	+	4	813	c.693G>T	c.(691-693)aaG>aaT	p.K231N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	231						integral component of membrane (GO:0016021)		p.K231N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGACACACAAGATGCTCAGCG	0.463																																					p.K231N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G693T	12						.	G	ASN/LYS	1,4405	2.1+/-5.4	0,1,2202	90.0	77.0	81.0		693	2.8	1.0	12		81	0,8600		0,0,4300	no	missense	KIAA1467	NM_020853.1	94	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	231/623	13214669	1,13005	2203	4300	6503	13105936	SO:0001583	missense	57613	exon4			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.693G>T	12.37:g.13214669G>T	ENSP00000197268:p.Lys231Asn		13105936	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091544	0.20471	2.27E-4	0.0	ENSG00000084444	ENST00000197268;ENST00000537625	T;T	0.39056	1.1;1.79	5.58	2.79	0.32731	Quinonprotein alcohol dehydrogenase-like (1);	0.322809	0.33834	N	0.004502	T	0.50222	0.1603	M	0.70595	2.14	0.37012	D	0.895787	D	0.54601	0.967	P	0.53689	0.732	T	0.51934	-0.8642	10	0.29301	T	0.29	-15.0887	9.7459	0.40446	0.3983:0.0:0.6017:0.0	.	231	A2RU67	K1467_HUMAN	N	231;7	ENSP00000197268:K231N;ENSP00000437974:K7N	ENSP00000197268:K231N	K	+	3	2	KIAA1467	13105936	1.000000	0.71417	0.954000	0.39281	0.048000	0.14542	1.785000	0.38684	0.066000	0.16515	-1.761000	0.00669	AAG		0.463	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
KIAA1467	57613	broad.mit.edu	37	12	13220194	13220194	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13220194G>T	ENST00000197268.8	+	7	1226	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	369						integral component of membrane (GO:0016021)		p.R369I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GAAAAGCGAAGATCCATCAAC	0.483																																					p.R369I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106T	12						.						159.0	144.0	149.0					12																	13220194		2203	4300	6503	13111461	SO:0001583	missense	57613	exon7			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1106G>T	12.37:g.13220194G>T	ENSP00000197268:p.Arg369Ile		13111461	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195853	0.78902	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.42513	0.97	5.44	5.44	0.79542	.	0.091390	0.85682	D	0.000000	T	0.65439	0.2691	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65923	-0.6050	10	0.48119	T	0.1	-21.4563	17.4632	0.87625	0.0:0.0:1.0:0.0	.	369	A2RU67	K1467_HUMAN	I	369;145	ENSP00000197268:R369I	ENSP00000197268:R369I	R	+	2	0	KIAA1467	13111461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.257000	0.72480	2.545000	0.85829	0.655000	0.94253	AGA		0.483	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
KIAA1467	57613	broad.mit.edu	37	12	13221377	13221377	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13221377C>T	ENST00000197268.8	+	8	1402	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	428						integral component of membrane (GO:0016021)		p.R428C(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCAAGGCCTGCGCAGGTTTGC	0.448																																					p.R428C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1282T	12						.						182.0	140.0	154.0					12																	13221377		2203	4300	6503	13112644	SO:0001583	missense	57613	exon8			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1282C>T	12.37:g.13221377C>T	ENSP00000197268:p.Arg428Cys		13112644	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364874	0.41902	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.30981	1.51	5.42	-0.00166	0.14033	.	0.784398	0.12972	N	0.424079	T	0.19327	0.0464	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22068	-1.0227	10	0.37606	T	0.19	-5.9399	0.9814	0.01437	0.329:0.3332:0.1103:0.2275	.	428	A2RU67	K1467_HUMAN	C	428;204	ENSP00000437974:R204C	ENSP00000197268:R428C	R	+	1	0	KIAA1467	13112644	0.005000	0.15991	0.362000	0.25862	0.647000	0.38526	0.117000	0.15583	0.255000	0.21593	-0.182000	0.12963	CGC		0.448	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
KIAA1467	57613	broad.mit.edu	37	12	13232903	13232903	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13232903G>T	ENST00000197268.8	+	12	1943	c.1823G>T	c.(1822-1824)aGa>aTa	p.R608I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	608						integral component of membrane (GO:0016021)		p.R608I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GAGCTGCGAAGATTTCTCTCT	0.502																																					p.R608I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1823T	12						.						43.0	48.0	46.0					12																	13232903		2203	4300	6503	13124170	SO:0001583	missense	57613	exon12			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1823G>T	12.37:g.13232903G>T	ENSP00000197268:p.Arg608Ile		13124170	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635909	0.87760	.	.	ENSG00000084444	ENST00000197268	T	0.55234	0.53	5.43	5.43	0.79202	.	0.186836	0.47455	D	0.000234	T	0.69931	0.3166	L	0.60455	1.87	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.72020	-0.4416	10	0.72032	D	0.01	-4.7524	17.4437	0.87573	0.0:0.0:1.0:0.0	.	608	A2RU67	K1467_HUMAN	I	608	ENSP00000197268:R608I	ENSP00000197268:R608I	R	+	2	0	KIAA1467	13124170	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.063000	0.71162	2.540000	0.85666	0.650000	0.86243	AGA		0.502	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
SFSWAP	6433	broad.mit.edu	37	12	132249130	132249130	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:132249130C>A	ENST00000261674.4	+	12	1991	c.1850C>A	c.(1849-1851)tCt>tAt	p.S617Y	SFSWAP_ENST00000541286.1_Missense_Mutation_p.S617Y	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	617	Poly-Ser.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.S617Y(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CAAGAAAGTTCTAGTAGTGCT	0.448																																					p.S617Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1850A	12						.						109.0	90.0	96.0					12																	132249130		2203	4300	6503	130815083	SO:0001583	missense	6433	exon12			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1850C>A	12.37:g.132249130C>A	ENSP00000261674:p.Ser617Tyr		130815083	NM_004592	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928631	0.34002	.	.	ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286	T;T;T	0.25085	2.8;1.82;2.82	5.29	-0.0915	0.13661	.	1.214880	0.05399	N	0.540265	T	0.19927	0.0479	L	0.36672	1.1	0.09310	N	1	B;B	0.23806	0.091;0.055	B;B	0.23716	0.048;0.021	T	0.31138	-0.9954	10	0.48119	T	0.1	-0.1436	4.4065	0.11411	0.1149:0.354:0.397:0.1341	.	617;617	F5H6B8;Q12872	.;SFSWA_HUMAN	Y	617;410;617	ENSP00000261674:S617Y;ENSP00000443045:S410Y;ENSP00000437738:S617Y	ENSP00000261674:S617Y	S	+	2	0	SFSWAP	130815083	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	0.380000	0.20602	-0.235000	0.09767	0.561000	0.74099	TCT		0.448	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	
P2RX2	22953	broad.mit.edu	37	12	133197092	133197092	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133197092G>A	ENST00000389110.3	+	7	734	c.697G>A	c.(697-699)Gac>Aac	p.D233N	P2RX2_ENST00000449132.2_Missense_Mutation_p.R197Q|P2RX2_ENST00000350048.5_Missense_Mutation_p.D209N|P2RX2_ENST00000343948.4_Missense_Mutation_p.D233N|P2RX2_ENST00000352418.4_Missense_Mutation_p.D161N|P2RX2_ENST00000348800.5_Missense_Mutation_p.D233N|P2RX2_ENST00000351222.4_Missense_Mutation_p.D141N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	233					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.D233N(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CGAGGCCTCCGACCTCTACTG	0.632																																					p.D233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	12						.						74.0	68.0	70.0					12																	133197092		2203	4300	6503	131707165	SO:0001583	missense	22953	exon7			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.697G>A	12.37:g.133197092G>A	ENSP00000373762:p.Asp233Asn		131707165	NM_174873	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	ENST00000389110.3	37	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.41|10.41	1.341788|1.341788	0.24339|0.24339	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000389110;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800|ENST00000449132	T;T;T;T;T;T|T	0.03951|0.09445	3.75;3.75;3.75;3.75;3.75;3.75|2.98	5.58|5.58	3.54|3.54	0.40534|0.40534	.|.	0.437004|.	0.26442|.	N|.	0.024355|.	T|T	0.08758|0.08758	0.0217|0.0217	L|L	0.41027|0.41027	1.25|1.25	0.34661|0.34661	D|D	0.722699|0.722699	B;B;P;B;B;B;B|B	0.41214|0.19445	0.137;0.191;0.742;0.038;0.117;0.227;0.066|0.036	B;B;B;B;B;B;B|B	0.18263|0.08055	0.014;0.012;0.013;0.014;0.012;0.021;0.005|0.003	T|T	0.10520|0.10520	-1.0626|-1.0626	10|9	0.12766|0.59425	T|D	0.61|0.04	-16.0764|-16.0764	5.0848|5.0848	0.14676|0.14676	0.0847:0.1548:0.6226:0.1378|0.0847:0.1548:0.6226:0.1378	.|.	233;141;161;209;233;233;233|197	Q32MC3;Q9UBL9-5;Q9UBL9-6;Q9UBL9-3;Q9UBL9-4;Q9UBL9;Q9UBL9-2|Q9UBL9-7	.;.;.;.;.;P2RX2_HUMAN;.|.	N|Q	233;233;161;209;141;233|197	ENSP00000373762:D233N;ENSP00000343339:D233N;ENSP00000341419:D161N;ENSP00000343904:D209N;ENSP00000344502:D141N;ENSP00000345095:D233N|ENSP00000405531:R197Q	ENSP00000343339:D233N|ENSP00000405531:R197Q	D|R	+|+	1|2	0|0	P2RX2|P2RX2	131707165|131707165	0.020000|0.020000	0.18652|0.18652	0.295000|0.295000	0.24960|0.24960	0.232000|0.232000	0.25224|0.25224	0.997000|0.997000	0.29731|0.29731	0.555000|0.555000	0.29079|0.29079	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.632	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		
POLE	5426	broad.mit.edu	37	12	133218337	133218337	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133218337G>A	ENST00000320574.5	-	39	5317	c.5274C>T	c.(5272-5274)ttC>ttT	p.F1758F	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.F1731F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1758					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F1758F(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGATCACGTCGAAGCTGATCC	0.602								DNA polymerases (catalytic subunits)																													p.F1758F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5274T	12						.						107.0	89.0	95.0					12																	133218337		2203	4300	6503	131728410	SO:0001819	synonymous_variant	5426	exon39				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5274C>T	12.37:g.133218337G>A			131728410	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																				0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133236066	133236066	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133236066G>A	ENST00000320574.5	-	26	3133	c.3090C>T	c.(3088-3090)ttC>ttT	p.F1030F	POLE_ENST00000535270.1_Silent_p.F1003F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1030					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F1030F(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGATGAGCTCGAATAGCTCAG	0.532								DNA polymerases (catalytic subunits)																													p.F1030F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3090T	12						.						67.0	61.0	63.0					12																	133236066		2203	4300	6503	131746139	SO:0001819	synonymous_variant	5426	exon26				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3090C>T	12.37:g.133236066G>A			131746139	NM_006231	Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	CCDS9278.1																																																																																				0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133249847	133249847	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133249847G>A	ENST00000320574.5	-	14	1419	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	POLE_ENST00000535270.1_Missense_Mutation_p.S432F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	459			S -> F (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.S459F(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATCTGACACAGAATACGTGGC	0.527								DNA polymerases (catalytic subunits)																													p.S459F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1376T	12						.						185.0	156.0	166.0					12																	133249847		2203	4300	6503	131759920	SO:0001583	missense	5426	exon14				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1376C>T	12.37:g.133249847G>A	ENSP00000322570:p.Ser459Phe		131759920	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145562	0.57044	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.44083	4.77;4.77;4.77;0.93	5.37	4.47	0.54385	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82255	-0.0548	10	0.87932	D	0	.	13.4599	0.61221	0.0755:0.0:0.9245:0.0	.	432;459	F5H1D6;Q07864	.;DPOE1_HUMAN	F	459;470;432;239;394;77	ENSP00000322570:S459F;ENSP00000406383:S470F;ENSP00000445753:S432F;ENSP00000442519:S239F	ENSP00000322570:S459F	S	-	2	0	POLE	131759920	1.000000	0.71417	0.176000	0.23000	0.185000	0.23345	7.962000	0.87912	2.524000	0.85096	0.313000	0.20887	TCT		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133256213	133256213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133256213G>A	ENST00000320574.5	-	6	491	c.448C>T	c.(448-450)Cga>Tga	p.R150*	POLE_ENST00000535270.1_Nonsense_Mutation_p.R123*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	150					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.R150*(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGTAATTTCGCTTCAAACCC	0.478								DNA polymerases (catalytic subunits)																													p.R150X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C448T	12						.						122.0	100.0	108.0					12																	133256213		2203	4300	6503	131766286	SO:0001587	stop_gained	5426	exon6				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.448C>T	12.37:g.133256213G>A	ENSP00000322570:p.Arg150*		131766286	NM_006231	Q13533|Q86VH9	Nonsense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797508	0.90538	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000376577	.	.	.	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6914	0.77457	0.0:0.0:0.7512:0.2488	.	.	.	.	X	150;161;123;85	.	ENSP00000322570:R150X	R	-	1	2	POLE	131766286	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.873000	0.56093	1.551000	0.49450	0.561000	0.74099	CGA		0.478	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ANKLE2	23141	broad.mit.edu	37	12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133319798G>A	ENST00000357997.5	-	6	1384	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	ANKLE2_ENST00000539605.1_Missense_Mutation_p.S370L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S432L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATGGTGTGACGAAAGCACGTT	0.353																																					p.S432L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1295T	12						.						127.0	114.0	118.0					12																	133319798		1884	4104	5988	131829871	SO:0001583	missense	23141	exon6			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1295C>T	12.37:g.133319798G>A	ENSP00000350686:p.Ser432Leu		131829871	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097258	0.37048	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.54479	1.64;1.64;0.57;0.57	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.218384	0.47093	D	0.000249	T	0.20941	0.0504	N	0.00041	-2.485	0.31442	N	0.671815	D;D	0.64830	0.993;0.994	P;P	0.51550	0.457;0.673	T	0.42816	-0.9429	10	0.27082	T	0.32	-12.0326	13.4826	0.61345	0.0:0.1571:0.8429:0.0	.	432;432	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	370;432;432;202	ENSP00000446268:S370L;ENSP00000350686:S432L;ENSP00000337651:S432L;ENSP00000438515:S202L	ENSP00000337651:S432L	S	-	2	0	ANKLE2	131829871	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	6.674000	0.74487	2.161000	0.67846	0.639000	0.83563	TCG		0.353	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
CHFR	55743	broad.mit.edu	37	12	133448903	133448903	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133448903T>C	ENST00000432561.2	-	4	384	c.311A>G	c.(310-312)tAc>tGc	p.Y104C	CHFR_ENST00000315585.7_Missense_Mutation_p.Y104C|CHFR_ENST00000266880.7_Missense_Mutation_p.Y104C|CHFR_ENST00000450056.2_Missense_Mutation_p.Y104C|CHFR_ENST00000443047.2_Missense_Mutation_p.Y104C|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	104					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y104C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GTACACCAAGTAGATGACATC	0.498																																					p.Y104C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A311G	12						.						200.0	168.0	179.0					12																	133448903		2203	4300	6503	131958976	SO:0001583	missense	55743	exon4			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.311A>G	12.37:g.133448903T>C	ENSP00000392395:p.Tyr104Cys		131958976	NM_018223	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512575	0.85389	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.7	5.7	0.88788	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	N	0.11106	0.095	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.89770	0.3953	10	0.59425	D	0.04	-22.2202	15.6259	0.76855	0.0:0.0:0.0:1.0	.	104;104;104;104;104	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	C	104	ENSP00000320557:Y104C;ENSP00000416431:Y104C;ENSP00000398735:Y104C;ENSP00000266880:Y104C;ENSP00000392395:Y104C;ENSP00000441837:Y104C	ENSP00000266880:Y104C	Y	-	2	0	CHFR	131958976	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	7.038000	0.76537	2.174000	0.68829	0.496000	0.49642	TAC		0.498	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		
ZNF605	100289635	broad.mit.edu	37	12	133502846	133502846	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133502846T>C	ENST00000360187.4	-	5	1387	c.1039A>G	c.(1039-1041)Agc>Ggc	p.S347G	ZNF605_ENST00000392321.3_Missense_Mutation_p.S378G|ZNF605_ENST00000331711.7_5'Flank	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S347G(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		GAGTTCCTGCTGAAGGCTTTT	0.473																																					p.S347G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1039G	12						.						1.0	1.0	1.0					12																	133502846		16	36	52	132012919	SO:0001583	missense	0	exon5			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1039A>G	12.37:g.133502846T>C	ENSP00000353314:p.Ser347Gly		132012919	NM_183238	B3KVG4|D3DXJ0|Q86T91	IGR	SNP	ENST00000360187.4	37	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993451	0.54041	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.07567	3.18;3.18	3.3	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001776	T	0.08358	0.0208	M	0.67569	2.06	0.25226	N	0.989861	P;P	0.48294	0.908;0.821	B;B	0.36335	0.222;0.067	T	0.31223	-0.9951	10	0.62326	D	0.03	.	6.757	0.23520	0.0:0.117:0.0:0.883	.	378;347	B3KVG4;Q86T29	.;ZN605_HUMAN	G	347;378	ENSP00000353314:S347G;ENSP00000376135:S378G	ENSP00000353314:S347G	S	-	1	0	ZNF605	132012919	0.096000	0.21769	1.000000	0.80357	0.969000	0.65631	0.148000	0.16224	1.534000	0.49203	0.402000	0.26972	AGC		0.473	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238	
ZNF605	100289635	broad.mit.edu	37	12	133503668	133503668	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133503668C>A	ENST00000360187.4	-	5	565	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	ZNF605_ENST00000392321.3_Missense_Mutation_p.D104Y|ZNF605_ENST00000331711.7_5'UTR	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D73Y(1)		breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		CCAAAAACATCATATTTATGG	0.338																																					p.D73Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217T	12						.																																			132013741	SO:0001583	missense	0	exon5			AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.217G>T	12.37:g.133503668C>A	ENSP00000353314:p.Asp73Tyr		132013741	NM_183238	B3KVG4|D3DXJ0|Q86T91	IGR	SNP	ENST00000360187.4	37	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250686	0.10130	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.08807	3.05;3.11	3.78	1.89	0.25635	Krueppel-associated box (1);	.	.	.	.	T	0.06781	0.0173	N	0.14661	0.345	0.19945	N	0.999944	P;B	0.35844	0.524;0.34	B;B	0.43623	0.425;0.174	T	0.36016	-0.9765	9	0.66056	D	0.02	.	4.7701	0.13151	0.0:0.5906:0.1855:0.2238	.	104;73	B3KVG4;Q86T29	.;ZN605_HUMAN	Y	73;104	ENSP00000353314:D73Y;ENSP00000376135:D104Y	ENSP00000353314:D73Y	D	-	1	0	ZNF605	132013741	0.000000	0.05858	0.977000	0.42913	0.104000	0.19210	-0.151000	0.10175	0.915000	0.36847	0.491000	0.48974	GAT		0.338	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238	
ZNF84	7637	broad.mit.edu	37	12	133634737	133634737	+	Missense_Mutation	SNP	G	G	A	rs199743916		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133634737G>A	ENST00000327668.7	+	5	2016	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K	ZNF84_ENST00000543758.1_Missense_Mutation_p.R478K|ZNF84_ENST00000539354.1_Missense_Mutation_p.R479K|ZNF84_ENST00000392319.2_Missense_Mutation_p.R479K|ZNF84_ENST00000535439.1_Intron			P51523	ZNF84_HUMAN	zinc finger protein 84	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R479K(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		AGACATCAGAGAACTCATACG	0.398																																					p.R479K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	12						.																																			132144810	SO:0001583	missense	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.1436G>A	12.37:g.133634737G>A	ENSP00000331465:p.Arg479Lys		132144810	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Missense_Mutation	SNP	ENST00000327668.7	37	CCDS31940.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669211	0.47677	.	.	ENSG00000198040	ENST00000392319;ENST00000543758;ENST00000539354;ENST00000327668	T;T;T;T	0.02197	4.4;4.4;4.4;4.4	2.8	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	L	0.45470	1.425	0.23401	N	0.997759	P	0.47604	0.898	B	0.38655	0.278	T	0.47873	-0.9083	9	0.41790	T	0.15	.	12.7582	0.57347	0.0:0.0:1.0:0.0	.	479	P51523	ZNF84_HUMAN	K	479;478;479;479	ENSP00000376133:R479K;ENSP00000437949:R478K;ENSP00000445549:R479K;ENSP00000331465:R479K	ENSP00000331465:R479K	R	+	2	0	ZNF84	132144810	0.002000	0.14202	1.000000	0.80357	0.870000	0.49936	0.699000	0.25586	1.567000	0.49668	0.305000	0.20034	AGA		0.398	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
ZNF84	7637	broad.mit.edu	37	12	133635184	133635184	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133635184A>T	ENST00000327668.7	+	5	2463	c.1883A>T	c.(1882-1884)gAa>gTa	p.E628V	ZNF84_ENST00000543758.1_Missense_Mutation_p.E627V|ZNF84_ENST00000539354.1_Missense_Mutation_p.E628V|ZNF84_ENST00000392319.2_Missense_Mutation_p.E628V|ZNF84_ENST00000535439.1_Intron			P51523	ZNF84_HUMAN	zinc finger protein 84	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E628V(1)		breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000535)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05)		AAACCTTATGAATGCAATGAA	0.403																																					p.E628V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1883T	12						.						1.0	1.0	1.0					12																	133635184		1	1	2	132145257	SO:0001583	missense	7637	exon5			M27878	CCDS31940.1	12q24.33	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13159	protein-coding gene	gene with protein product			"""zinc finger protein 84 (HPF2)"""				Standard	XM_005266184		Approved	HPF2	uc009zyz.3	P51523		ENST00000327668.7:c.1883A>T	12.37:g.133635184A>T	ENSP00000331465:p.Glu628Val		132145257	NM_001127372	B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18	Missense_Mutation	SNP	ENST00000327668.7	37	CCDS31940.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117613	0.37339	.	.	ENSG00000198040	ENST00000392319;ENST00000543758;ENST00000539354;ENST00000327668	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	2.8	2.8	0.32819	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	N	0.01761	-0.735	0.09310	N	0.999996	B	0.21905	0.062	B	0.21360	0.034	T	0.26189	-1.0110	9	0.37606	T	0.19	.	7.0556	0.25097	0.7686:0.2314:0.0:0.0	.	628	P51523	ZNF84_HUMAN	V	628;627;628;628	ENSP00000376133:E628V;ENSP00000437949:E627V;ENSP00000445549:E628V;ENSP00000331465:E628V	ENSP00000331465:E628V	E	+	2	0	ZNF84	132145257	0.000000	0.05858	0.997000	0.53966	0.955000	0.61496	-0.003000	0.12901	1.283000	0.44513	0.254000	0.18369	GAA		0.403	ZNF84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397158.1	NM_003428	
IQSEC3	440073	broad.mit.edu	37	12	274617	274617	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:274617G>A	ENST00000538872.1	+	10	2845	c.2727G>A	c.(2725-2727)ccG>ccA	p.P909P	IQSEC3_ENST00000326261.4_Silent_p.P909P|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Silent_p.P606P|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	909	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P606P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AACTTTGCCCGAAGAAGAAGA	0.522																																					p.P909P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2727A	12						.						182.0	171.0	174.0					12																	274617		2203	4300	6503	144878	SO:0001819	synonymous_variant	440073	exon10			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2727G>A	12.37:g.274617G>A			144878	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																				0.522	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
SLC6A12	6539	broad.mit.edu	37	12	304439	304439	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:304439G>A	ENST00000428720.1	-	13	2124	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	SLC6A12_ENST00000397296.2_Silent_p.L461L|SLC6A12_ENST00000424061.2_Silent_p.L461L|SLC6A12_ENST00000536824.1_Silent_p.L461L|SLC6A12_ENST00000359674.4_Silent_p.L461L|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000538272.1_5'Flank	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	461					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L461L(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGGAACAGCAGGCATATGCCA	0.567																																					p.L461L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1381T	12						.						258.0	214.0	229.0					12																	304439		2203	4300	6503	174700	SO:0001819	synonymous_variant	6539	exon13			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1381C>T	12.37:g.304439G>A			174700	NM_001122847	A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	CCDS8501.1																																																																																				0.567	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
SLC6A12	6539	broad.mit.edu	37	12	307996	307996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:307996C>A	ENST00000428720.1	-	8	1556	c.813G>T	c.(811-813)ttG>ttT	p.L271F	SLC6A12_ENST00000397296.2_Missense_Mutation_p.L271F|SLC6A12_ENST00000424061.2_Missense_Mutation_p.L271F|SLC6A12_ENST00000536824.1_Missense_Mutation_p.L271F|SLC6A12_ENST00000359674.4_Missense_Mutation_p.L271F|SLC6A12_ENST00000538272.1_5'UTR	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	271					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L271F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AATCTGGCTTCAAGTAGTAGA	0.527																																					p.L271F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G813T	12						.						147.0	123.0	131.0					12																	307996		2203	4300	6503	178257	SO:0001583	missense	6539	exon8			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.813G>T	12.37:g.307996C>A	ENSP00000388184:p.Leu271Phe		178257	NM_001122847	A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163215	0.57476	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.44	3.54	0.40534	.	0.000000	0.64402	D	0.000006	D	0.82852	0.5127	L	0.53561	1.675	0.54753	D	0.999988	D	0.56287	0.975	D	0.68621	0.959	T	0.82900	-0.0228	10	0.87932	D	0	.	9.4566	0.38758	0.1413:0.781:0.0:0.0778	.	271	P48065	S6A12_HUMAN	F	271	ENSP00000352702:L271F;ENSP00000380464:L271F;ENSP00000388184:L271F;ENSP00000399136:L271F;ENSP00000444268:L271F	ENSP00000352702:L271F	L	-	3	2	SLC6A12	178257	0.986000	0.35501	0.999000	0.59377	0.844000	0.47949	0.340000	0.19892	0.969000	0.38237	0.655000	0.94253	TTG		0.527	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044	
KDM5A	5927	broad.mit.edu	37	12	416835	416835	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:416835G>A	ENST00000399788.2	-	23	4077	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1239W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1239					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R1239W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCAGGCAACCGTACGGGCAAC	0.512			T	NUP98	AML																																p.R1239W			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3715T	12						.						76.0	76.0	76.0					12																	416835		1921	4126	6047	287096	SO:0001583	missense	5927	exon23				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3715C>T	12.37:g.416835G>A	ENSP00000382688:p.Arg1239Trp		287096	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011070	0.75046	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	T;T	0.01209	5.17;5.17	5.66	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	L	0.56199	1.76	0.58432	D	0.999999	D;D	0.67145	0.993;0.996	P;D	0.68353	0.832;0.957	T	0.34551	-0.9824	10	0.87932	D	0	-14.4907	15.3118	0.74039	0.0:0.0:0.8315:0.1685	.	1239;1239	P29375;P29375-2	KDM5A_HUMAN;.	W	1239	ENSP00000382688:R1239W;ENSP00000372265:R1239W	ENSP00000372265:R1239W	R	-	1	2	KDM5A	287096	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.803000	0.55560	1.354000	0.45846	0.585000	0.79938	CGG		0.512	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KDM5A	5927	broad.mit.edu	37	12	430229	430229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:430229C>A	ENST00000399788.2	-	18	2835	c.2473G>T	c.(2473-2475)Gaa>Taa	p.E825*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.E825*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	825					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E825*(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCCTTCAATTCTTCCACTGTC	0.398			T	NUP98	AML																																p.E825X			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2473T	12						.						173.0	175.0	175.0					12																	430229		1908	4112	6020	300490	SO:0001587	stop_gained	5927	exon18				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2473G>T	12.37:g.430229C>A	ENSP00000382688:p.Glu825*		300490	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	44	10.954680	0.99494	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-23.4619	19.9434	0.97174	0.0:1.0:0.0:0.0	.	.	.	.	X	444;784;825;825;444	.	ENSP00000261253:E444X	E	-	1	0	KDM5A	300490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.710000	0.92621	0.563000	0.77884	GAA		0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KDM5A	5927	broad.mit.edu	37	12	443441	443441	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:443441C>T	ENST00000399788.2	-	11	1818	c.1456G>A	c.(1456-1458)Gat>Aat	p.D486N	KDM5A_ENST00000382815.4_Missense_Mutation_p.D486N	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	486	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D486N(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCCAGTGATCCTCAATGTGC	0.413			T	NUP98	AML																																p.D486N			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1456A	12						.						156.0	150.0	152.0					12																	443441		2117	4252	6369	313702	SO:0001583	missense	5927	exon11				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1456G>A	12.37:g.443441C>T	ENSP00000382688:p.Asp486Asn		313702	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600127	0.96614	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.72725	-0.68;-0.68;-0.68	5.22	5.22	0.72569	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	D	0.90606	0.4548	10	0.87932	D	0	-17.5632	18.7848	0.91949	0.0:1.0:0.0:0.0	.	105;486;486;486	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	N	105;445;486;486;105	ENSP00000382688:D486N;ENSP00000372265:D486N;ENSP00000440622:D105N	ENSP00000261253:D105N	D	-	1	0	KDM5A	313702	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.772000	0.85439	2.459000	0.83118	0.655000	0.94253	GAT		0.413	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
KDM5A	5927	broad.mit.edu	37	12	465663	465663	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:465663T>G	ENST00000399788.2	-	6	1075	c.713A>C	c.(712-714)aAa>aCa	p.K238T	KDM5A_ENST00000382815.4_Missense_Mutation_p.K238T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	238					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K238T(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATCTGAAGTTTCTTCAGTTC	0.353			T	NUP98	AML																																p.K238T			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A713C	12						.						89.0	86.0	87.0					12																	465663		1807	4079	5886	335924	SO:0001583	missense	5927	exon6				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.713A>C	12.37:g.465663T>G	ENSP00000382688:p.Lys238Thr		335924	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024695	0.54683	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.85861	-2.04;-1.85	5.77	5.77	0.91146	.	0.312435	0.37219	N	0.002199	D	0.84451	0.5475	M	0.64997	1.995	0.37039	D	0.897054	B;B;B	0.29671	0.033;0.085;0.254	B;B;B	0.32022	0.049;0.032;0.139	D	0.86378	0.1727	10	0.87932	D	0	-20.5152	14.6651	0.68901	0.0:0.0:0.0:1.0	.	238;238;238	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	T	197;238;238	ENSP00000382688:K238T;ENSP00000372265:K238T	ENSP00000372265:K238T	K	-	2	0	KDM5A	335924	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.632000	0.46511	2.190000	0.69967	0.533000	0.62120	AAA		0.353	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
CCDC77	84318	broad.mit.edu	37	12	547544	547544	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:547544T>G	ENST00000239830.4	+	10	1044	c.865T>G	c.(865-867)Ttt>Gtt	p.F289V	CCDC77_ENST00000422000.1_Missense_Mutation_p.F257V|CCDC77_ENST00000412006.2_Missense_Mutation_p.F257V|CCDC77_ENST00000540180.1_Missense_Mutation_p.F257V	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	289						centrosome (GO:0005813)|membrane (GO:0016020)		p.F289V(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CACCAAAGATTTTCTGCAACT	0.393																																					p.F257V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T769G	12						.						89.0	89.0	89.0					12																	547544		2203	4300	6503	417805	SO:0001583	missense	84318	exon8			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.865T>G	12.37:g.547544T>G	ENSP00000239830:p.Phe289Val		417805	NM_001130148	B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	t	16.19	3.053661	0.55218	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.04	5.04	0.67666	.	0.103334	0.64402	D	0.000002	T	0.48169	0.1485	M	0.69358	2.11	0.43271	D	0.995227	D	0.69078	0.997	P	0.61132	0.884	T	0.39583	-0.9607	10	0.21540	T	0.41	-18.7523	15.0787	0.72096	0.0:0.0:0.0:1.0	.	289	Q9BR77	CCD77_HUMAN	V	257;257;257;289;257	ENSP00000440554:F257V;ENSP00000391870:F257V;ENSP00000445873:F257V;ENSP00000239830:F289V;ENSP00000412925:F257V	ENSP00000239830:F289V	F	+	1	0	CCDC77	417805	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	5.760000	0.68793	2.025000	0.59659	0.454000	0.30748	TTT		0.393	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358	
CCDC77	84318	broad.mit.edu	37	12	551073	551073	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:551073T>G	ENST00000239830.4	+	13	1633	c.1454T>G	c.(1453-1455)cTt>cGt	p.L485R	CCDC77_ENST00000422000.1_Missense_Mutation_p.L453R|CCDC77_ENST00000412006.2_Missense_Mutation_p.L453R|CCDC77_ENST00000540180.1_Missense_Mutation_p.L453R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	485						centrosome (GO:0005813)|membrane (GO:0016020)		p.L485R(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			GAGAATGAACTTAGACTCTGT	0.438																																					p.L453R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1358G	12						.						159.0	144.0	149.0					12																	551073		2203	4300	6503	421334	SO:0001583	missense	84318	exon11			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1454T>G	12.37:g.551073T>G	ENSP00000239830:p.Leu485Arg		421334	NM_001130148	B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.413551	0.83449	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000239830;ENST00000412006	T;T;T;T	0.59638	0.25;0.25;0.78;0.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81064	-0.1102	10	0.87932	D	0	-12.805	15.9677	0.79987	0.0:0.0:0.0:1.0	.	485	Q9BR77	CCD77_HUMAN	R	453;453;485;453	ENSP00000440554:L453R;ENSP00000391870:L453R;ENSP00000239830:L485R;ENSP00000412925:L453R	ENSP00000239830:L485R	L	+	2	0	CCDC77	421334	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	7.197000	0.77814	2.227000	0.72691	0.460000	0.39030	CTT		0.438	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358	
WNK1	65125	broad.mit.edu	37	12	977741	977741	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:977741C>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000537687.1_Missense_Mutation_p.S950Y|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.S1035Y|WNK1_ENST00000574564.1_Missense_Mutation_p.S249Y|WNK1_ENST00000340908.4_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S950Y(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTTCCTCATTCTGCGCCTGCT	0.453																																					p.S950Y	Colon(19;451 567 6672 12618 28860)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2849A	12						.						52.0	53.0	53.0					12																	977741		1905	4107	6012	848002	SO:0001627	intron_variant	65125	exon9			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2690C>A	12.37:g.977741C>A			848002	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Intron	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524519	0.64747	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.18810	2.19;2.19	5.36	5.36	0.76844	.	.	.	.	.	T	0.50837	0.1639	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52711	-0.8539	8	0.66056	D	0.02	.	19.4469	0.94851	0.0:1.0:0.0:0.0	.	1035	F5H2M7	.	Y	950;1035	ENSP00000444465:S950Y;ENSP00000433548:S1035Y	ENSP00000433548:S1035Y	S	+	2	0	WNK1	848002	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.125000	0.57931	2.659000	0.90383	0.563000	0.77884	TCT		0.453	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RAD52	5893	broad.mit.edu	37	12	1042192	1042192	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:1042192T>C	ENST00000358495.3	-	2	171	c.33A>G	c.(31-33)ggA>ggG	p.G11G	RAD52_ENST00000541619.1_Silent_p.G11G|RAD52_ENST00000430095.2_Silent_p.G11G|RAD52_ENST00000536177.1_Silent_p.G11G|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000545564.1_Silent_p.G11G|RAD52_ENST00000544742.1_Silent_p.G11G	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	11					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.G11G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GGCTGTCACGTCCTCCAAGAA	0.443								Homologous recombination																													p.G11G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A33G	12						.						205.0	206.0	206.0					12																	1042192		2203	4300	6503	912453	SO:0001819	synonymous_variant	5893	exon2				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.33A>G	12.37:g.1042192T>C			912453	NM_134424	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Silent	SNP	ENST00000358495.3	37	CCDS8507.2																																																																																				0.443	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424	
ADIPOR2	79602	broad.mit.edu	37	12	1893207	1893207	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:1893207G>A	ENST00000357103.4	+	7	1251	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	334					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)	p.E334K(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CCGGATCCCCGAACGCTTTTT	0.542																																					p.E334K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	12						.						82.0	76.0	78.0					12																	1893207		2203	4300	6503	1763468	SO:0001583	missense	79602	exon7			AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.1000G>A	12.37:g.1893207G>A	ENSP00000349616:p.Glu334Lys		1763468	NM_024551	Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	G	36	5.775868	0.96922	.	.	ENSG00000006831	ENST00000357103	T	0.60299	0.2	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91648	0.5332	10	0.87932	D	0	-12.5939	19.2986	0.94134	0.0:0.0:1.0:0.0	.	334	Q86V24	ADR2_HUMAN	K	334	ENSP00000349616:E334K	ENSP00000349616:E334K	E	+	1	0	ADIPOR2	1763468	1.000000	0.71417	0.925000	0.36789	0.975000	0.68041	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	GAA		0.542	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551	
DCP1B	196513	broad.mit.edu	37	12	2062038	2062038	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2062038G>A	ENST00000280665.6	-	7	1147	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	DCP1B_ENST00000397173.4_Silent_p.F254F|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Silent_p.F230F	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	356					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.F356F(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGTTTCTCGAACAGGTTCT	0.532																																					p.F356F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1068T	12						.						74.0	82.0	80.0					12																	2062038		2203	4300	6503	1932299	SO:0001819	synonymous_variant	196513	exon7			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1068C>T	12.37:g.2062038G>A			1932299	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																				0.532	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
CACNA1C	775	broad.mit.edu	37	12	2692029	2692029	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2692029G>A	ENST00000347598.4	+	15	2145	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	CACNA1C_ENST00000399644.1_Silent_p.G715G|CACNA1C_ENST00000399606.1_Silent_p.G715G|CACNA1C_ENST00000406454.3_Silent_p.G715G|CACNA1C_ENST00000399617.1_Silent_p.G715G|CACNA1C_ENST00000399649.1_Silent_p.G715G|CACNA1C_ENST00000344100.3_Silent_p.G715G|CACNA1C_ENST00000399641.1_Silent_p.G715G|CACNA1C_ENST00000335762.5_Silent_p.G740G|CACNA1C_ENST00000399637.1_Silent_p.G715G|CACNA1C_ENST00000399603.1_Silent_p.G715G|CACNA1C_ENST00000399595.1_Silent_p.G715G|CACNA1C_ENST00000402845.3_Silent_p.G715G|CACNA1C_ENST00000399597.1_Silent_p.G715G|CACNA1C_ENST00000399621.1_Silent_p.G715G|CACNA1C_ENST00000399601.1_Silent_p.G715G|CACNA1C_ENST00000399638.1_Silent_p.G715G|CACNA1C_ENST00000399655.1_Silent_p.G715G|CACNA1C_ENST00000399629.1_Silent_p.G715G|CACNA1C_ENST00000399634.1_Silent_p.G715G|CACNA1C_ENST00000480911.1_Silent_p.G715G|CACNA1C_ENST00000327702.7_Silent_p.G715G|CACNA1C_ENST00000399591.1_Silent_p.G715G	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	715					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G715G(1)|p.G745G(1)|p.G250G(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTATGATGGGATCATGGCTT	0.488																																					p.G715G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G2145A	12						.						123.0	140.0	134.0					12																	2692029		2090	4247	6337	2562290	SO:0001819	synonymous_variant	775	exon15			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2145G>A	12.37:g.2692029G>A			2562290	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.488	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CACNA1C	775	broad.mit.edu	37	12	2711054	2711054	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2711054C>A	ENST00000347598.4	+	23	2948	c.2948C>A	c.(2947-2949)tCt>tAt	p.S983Y	CACNA1C_ENST00000399644.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S983Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S988Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S963Y|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S963Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S963Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S963Y	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	983					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S498Y(1)|p.S963Y(1)|p.S1013Y(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACAAGGGTTCTTTCTGCCGG	0.577																																					p.S963Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2888A	12						.						153.0	156.0	155.0					12																	2711054		2203	4300	6503	2581315	SO:0001583	missense	775	exon22			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2948C>A	12.37:g.2711054C>A	ENSP00000266376:p.Ser983Tyr		2581315	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521095	0.85495	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;1.0;0.999;0.991;0.999;0.999;0.999;0.998;0.999;0.999;0.999;0.998;0.995;0.999;0.995;0.998;0.999;0.999;0.999;0.994;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.99;0.996;0.998;0.998;0.999;0.952;0.987;0.998;0.996;0.987;0.999;0.998;0.999;0.992;0.974;0.998;0.974;0.992;0.998;0.998;0.992;0.989;0.997	D	0.99647	1.0990	10	0.87932	D	0	.	17.8378	0.88706	0.0:1.0:0.0:0.0	.	963;960;983;963;963;963;963;963;963;983;963;934;983;963;963;963;963;963;963;963;963;963;963;963;963	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Y	988;963;963;963;963;963;963;963;963;963;983;983;963;963;963;963;963;963;963;963;963;963;963;804	ENSP00000336982:S988Y;ENSP00000382563:S963Y;ENSP00000437936:S963Y;ENSP00000382552:S963Y;ENSP00000382547:S963Y;ENSP00000382506:S963Y;ENSP00000382530:S963Y;ENSP00000382546:S963Y;ENSP00000382500:S963Y;ENSP00000382549:S963Y;ENSP00000266376:S983Y;ENSP00000382515:S983Y;ENSP00000382510:S963Y;ENSP00000341092:S963Y;ENSP00000382537:S963Y;ENSP00000329877:S963Y;ENSP00000382557:S963Y;ENSP00000385724:S963Y;ENSP00000382512:S963Y;ENSP00000382542:S963Y;ENSP00000382526:S963Y;ENSP00000385896:S963Y;ENSP00000382504:S963Y	ENSP00000323129:S804Y	S	+	2	0	CACNA1C	2581315	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.598000	0.82745	2.521000	0.84997	0.655000	0.94253	TCT		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
ITFG2	55846	broad.mit.edu	37	12	2929370	2929370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2929370G>T	ENST00000228799.2	+	5	664	c.525G>T	c.(523-525)aaG>aaT	p.K175N	ITFG2_ENST00000542548.1_Missense_Mutation_p.K63N|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	175					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.K175N(1)|p.K175K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTCCCTCAAGAAATGGATGC	0.602																																					p.K175N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G525T	12						.						74.0	54.0	61.0					12																	2929370		2203	4300	6503	2799631	SO:0001583	missense	55846	exon5			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.525G>T	12.37:g.2929370G>T	ENSP00000228799:p.Lys175Asn		2799631	NM_018463	A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457049	0.84317	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.70516	-0.49;2.29	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.43701	1.375	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.73322	-0.4019	10	0.21540	T	0.41	-7.7262	16.5494	0.84464	0.0:0.0:1.0:0.0	.	175	Q969R8	ITFG2_HUMAN	N	175;63	ENSP00000228799:K175N;ENSP00000437870:K63N	ENSP00000228799:K175N	K	+	3	2	ITFG2	2799631	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.540000	0.73861	2.384000	0.81235	0.561000	0.74099	AAG		0.602	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463	
FOXM1	2305	broad.mit.edu	37	12	2968603	2968603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2968603G>T	ENST00000359843.3	-	9	1561	c.1493C>A	c.(1492-1494)tCa>tAa	p.S498*	ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Nonsense_Mutation_p.S483*|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Nonsense_Mutation_p.S536*	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	498	Glu/Pro/Ser/Thr-rich.				cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S536*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGAGTGAGATGATTCCTCTTT	0.572																																					p.S483X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1448A	12						.						91.0	97.0	95.0					12																	2968603		2203	4300	6503	2838864	SO:0001587	stop_gained	2305	exon8			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1493C>A	12.37:g.2968603G>T	ENSP00000352901:p.Ser498*		2838864	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Nonsense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801051	0.70567	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	.	.	.	4.28	-1.95	0.07548	.	1.858790	0.03073	N	0.157456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	9.3087	0.37891	0.5391:0.0:0.4609:0.0	.	.	.	.	X	536;483;498	.	ENSP00000342307:S536X	S	-	2	0	FOXM1	2838864	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	-0.173000	0.09854	-0.282000	0.09128	0.462000	0.41574	TCA		0.572	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
FOXM1	2305	broad.mit.edu	37	12	2981354	2981354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:2981354G>A	ENST00000359843.3	-	3	630	c.562C>T	c.(562-564)Cga>Tga	p.R188*	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Nonsense_Mutation_p.R188*|FOXM1_ENST00000342628.2_Nonsense_Mutation_p.R188*	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	188					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R188*(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CTCATCTTTCGAAGCCACTGG	0.498																																					p.R188X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C562T	12						.						183.0	160.0	168.0					12																	2981354		2203	4300	6503	2851615	SO:0001587	stop_gained	2305	exon3			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.562C>T	12.37:g.2981354G>A	ENSP00000352901:p.Arg188*		2851615	NM_202003	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Nonsense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824801	0.71143	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	.	.	.	5.7	3.83	0.44106	.	0.160788	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.2014	0.73139	0.0:0.7204:0.2796:0.0	.	.	.	.	X	188	.	ENSP00000342307:R188X	R	-	1	2	FOXM1	2851615	0.560000	0.26570	0.930000	0.37139	0.029000	0.11900	1.754000	0.38369	0.714000	0.32081	-0.165000	0.13383	CGA		0.498	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
TSPAN9	10867	broad.mit.edu	37	12	3390929	3390929	+	Silent	SNP	C	C	T	rs201166747		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:3390929C>T	ENST00000011898.5	+	8	755	c.594C>T	c.(592-594)ttC>ttT	p.F198F	TSPAN9_ENST00000407263.1_Silent_p.F198F|TSPAN9_ENST00000537971.1_Silent_p.F198F	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	198						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)		p.F198F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGATGTGGTTCGATGACAATA	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.0				p.F198F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	12						.						143.0	111.0	122.0					12																	3390929		2203	4300	6503	3261190	SO:0001819	synonymous_variant	10867	exon7			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.594C>T	12.37:g.3390929C>T			3261190	NM_001168320	D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	ENST00000011898.5	37	CCDS8520.1																																																																																				0.632	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
PRMT8	56341	broad.mit.edu	37	12	3662819	3662819	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:3662819C>T	ENST00000382622.3	+	4	810	c.420C>T	c.(418-420)atC>atT	p.I140I	PRMT8_ENST00000452611.2_Silent_p.I131I|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	140	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.I140I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTTTCCAGATCGAATGCTCCA	0.483																																					p.I140I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C420T	12						.						118.0	106.0	110.0					12																	3662819		2203	4300	6503	3533080	SO:0001819	synonymous_variant	56341	exon4			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.420C>T	12.37:g.3662819C>T			3533080	NM_019854	B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	CCDS8521.2																																																																																				0.483	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854	
PARP11	57097	broad.mit.edu	37	12	3939099	3939099	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:3939099C>T	ENST00000228820.4	-	2	248	c.104G>A	c.(103-105)gGc>gAc	p.G35D	PARP11_ENST00000397096.2_Missense_Mutation_p.G28D|PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000447133.3_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	28	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G28D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GTAAAACCAGCCCCACTGGGT	0.413																																					p.G35D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104A	12						.						183.0	164.0	171.0					12																	3939099		2203	4300	6503	3809360	SO:0001583	missense	57097	exon2			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.104G>A	12.37:g.3939099C>T	ENSP00000228820:p.Gly35Asp		3809360	NM_020367	B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	CCDS8523.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.48|18.48	3.632998|3.632998	0.67015|0.67015	.|.	.|.	ENSG00000111224|ENSG00000111224	ENST00000450737|ENST00000397096;ENST00000228820	.|T;T	.|0.41400	.|1.0;1.0	5.52|5.52	4.63|4.63	0.57726|0.57726	.|WWE domain (2);	.|0.050111	.|0.85682	.|D	.|0.000000	T|T	0.33962|0.33962	0.0881|0.0881	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.004;0.005	.|B;B	.|0.17433	.|0.011;0.018	T|T	0.11397|0.11397	-1.0589|-1.0589	6|10	0.87932|0.12430	D|T	0|0.62	.|.	12.1031|12.1031	0.53796|0.53796	0.0:0.9181:0.0:0.0819|0.0:0.9181:0.0:0.0819	.|.	.|35;28	.|Q9NR21-4;Q9NR21	.|.;PAR11_HUMAN	T|D	14|28;35	.|ENSP00000380284:G28D;ENSP00000228820:G35D	ENSP00000387481:A14T|ENSP00000228820:G35D	A|G	-|-	1|2	0|0	PARP11|PARP11	3809360|3809360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.180000|5.180000	0.65048|0.65048	1.576000|1.576000	0.49790|0.49790	0.563000|0.563000	0.77884|0.77884	GCT|GGC		0.413	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1		
RAD51AP1	10635	broad.mit.edu	37	12	4655578	4655578	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4655578G>A	ENST00000544927.1	+	4	323	c.313G>A	c.(313-315)Gat>Aat	p.D105N	RAD51AP1_ENST00000543041.1_Intron|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D122N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D105N|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.D122N					RAD51 associated protein 1									p.D105N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GAACTCTCAAGATAAAAGTAA	0.368																																					p.D105N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	12						.						66.0	69.0	68.0					12																	4655578		2203	4300	6503	4525839	SO:0001583	missense	10635	exon4			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.313G>A	12.37:g.4655578G>A	ENSP00000446296:p.Asp105Asn		4525839	NM_006479		Missense_Mutation	SNP	ENST00000544927.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.16|17.16	3.319116|3.319116	0.60524|0.60524	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T|.	0.32272|.	1.46;1.46;1.46;1.46|.	5.47|5.47	3.66|3.66	0.41972|0.41972	.|.	1.272510|.	0.04832|.	N|.	0.438830|.	T|T	0.39172|0.39172	0.1068|0.1068	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	0.999994|0.999994	B;B;B|.	0.20671|.	0.009;0.009;0.047|.	B;B;B|.	0.16289|.	0.011;0.007;0.015|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.42905|.	T|.	0.14|.	-0.6802|-0.6802	8.4187|8.4187	0.32687|0.32687	0.1796:0.0:0.8204:0.0|0.1796:0.0:0.8204:0.0	.|.	122;122;105|.	Q96B01;A8K313;Q96B01-2|.	R51A1_HUMAN;.;.|.	N|K	122;122;105;105|99	ENSP00000323750:D122N;ENSP00000228843:D122N;ENSP00000309479:D105N;ENSP00000446296:D105N|.	ENSP00000228843:D122N|.	D|R	+|+	1|2	0|0	RAD51AP1|RAD51AP1	4525839|4525839	0.216000|0.216000	0.23585|0.23585	0.001000|0.001000	0.08648|0.08648	0.329000|0.329000	0.28539|0.28539	2.677000|2.677000	0.46892|0.46892	0.708000|0.708000	0.31955|0.31955	0.491000|0.491000	0.48974|0.48974	GAT|AGA		0.368	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	
DYRK4	8798	broad.mit.edu	37	12	4722902	4722902	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4722902T>G	ENST00000540757.2	+	13	1706	c.1546T>G	c.(1546-1548)Tta>Gta	p.L516V	DYRK4_ENST00000543431.1_Missense_Mutation_p.L515V|DYRK4_ENST00000545342.1_Missense_Mutation_p.L153V|DYRK4_ENST00000010132.5_Missense_Mutation_p.L516V|RP11-500M8.7_ENST00000536588.1_Intron	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	516						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L917V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CACAAACGTTTTACCCCCTAT	0.483																																					p.L516V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1546G	12						.						66.0	69.0	68.0					12																	4722902		2203	4300	6503	4593163	SO:0001583	missense	8798	exon13			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1546T>G	12.37:g.4722902T>G	ENSP00000441755:p.Leu516Val		4593163	NM_003845	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.927847	0.34002	.	.	ENSG00000010219	ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	T;T;T;T	0.68331	-0.32;-0.32;-0.32;0.11	5.24	2.9	0.33743	.	0.445638	0.18176	N	0.149291	T	0.73434	0.3586	L	0.54323	1.7	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.996;0.993	D;D;D	0.80764	0.991;0.994;0.987	T	0.69003	-0.5260	10	0.46703	T	0.11	.	6.6469	0.22941	0.0:0.1853:0.0:0.8147	.	229;515;516	B4E1A4;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	V	516;516;515;153	ENSP00000441755:L516V;ENSP00000010132:L516V;ENSP00000439697:L515V;ENSP00000446005:L153V	ENSP00000010132:L516V	L	+	1	2	DYRK4	4593163	0.763000	0.28462	0.379000	0.26080	0.170000	0.22686	0.753000	0.26376	0.457000	0.26962	-0.297000	0.09499	TTA		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
AKAP3	10566	broad.mit.edu	37	12	4736321	4736321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4736321C>A	ENST00000545990.2	-	5	2271	c.1747G>T	c.(1747-1749)Gaa>Taa	p.E583*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.E583*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	583					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.E583*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTGCTTGTTCTTGGTCACCT	0.468																																					p.E583X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1747T	12						.						74.0	72.0	72.0					12																	4736321		2203	4300	6503	4606582	SO:0001587	stop_gained	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1747G>T	12.37:g.4736321C>A	ENSP00000440994:p.Glu583*		4606582	NM_006422	O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	42	9.740506	0.99252	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	5.95	5.95	0.96441	.	0.295817	0.30060	N	0.010506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3022	0.87185	0.0:1.0:0.0:0.0	.	.	.	.	X	583	.	ENSP00000228850:E583X	E	-	1	0	AKAP3	4606582	0.967000	0.33354	0.897000	0.35233	0.832000	0.47134	2.072000	0.41510	2.825000	0.97269	0.655000	0.94253	GAA		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
AKAP3	10566	broad.mit.edu	37	12	4737562	4737562	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4737562T>G	ENST00000545990.2	-	5	1030	c.506A>C	c.(505-507)aAa>aCa	p.K169T	AKAP3_ENST00000228850.1_Missense_Mutation_p.K169T|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	169					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.K169T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ACTGAGGCTTTTGGTGGGTGT	0.493																																					p.K169T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A506C	12						.						178.0	169.0	172.0					12																	4737562		2203	4300	6503	4607823	SO:0001583	missense	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.506A>C	12.37:g.4737562T>G	ENSP00000440994:p.Lys169Thr		4607823	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	4.599	0.111380	0.08831	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07908	3.15;3.15	4.76	2.47	0.30058	A-kinase anchor 110kDa, C-terminal (1);	0.382658	0.23157	N	0.051300	T	0.12263	0.0298	L	0.50919	1.6	0.09310	N	1	D	0.56746	0.977	P	0.55785	0.784	T	0.12785	-1.0534	10	0.19590	T	0.45	.	5.6221	0.17463	0.0:0.2118:0.0:0.7882	.	169	O75969	AKAP3_HUMAN	T	169	ENSP00000228850:K169T;ENSP00000440994:K169T	ENSP00000228850:K169T	K	-	2	0	AKAP3	4607823	0.846000	0.29590	0.147000	0.22382	0.030000	0.12068	0.718000	0.25866	0.956000	0.37904	0.533000	0.62120	AAA		0.493	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
AKAP3	10566	broad.mit.edu	37	12	4737701	4737701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4737701C>A	ENST00000545990.2	-	5	891	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.E123*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	123					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.E123*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGGAAACTTCATCTACTGAA	0.483																																					p.E123X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G367T	12						.						126.0	116.0	119.0					12																	4737701		2203	4300	6503	4607962	SO:0001587	stop_gained	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.367G>T	12.37:g.4737701C>A	ENSP00000440994:p.Glu123*		4607962	NM_006422	O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888613	0.72524	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967	.	.	.	4.7	4.7	0.59300	.	0.097636	0.45361	D	0.000364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.9948	0.71421	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000228850:E123X	E	-	1	0	AKAP3	4607962	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.921000	0.40035	2.583000	0.87209	0.655000	0.94253	GAA		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
AKAP3	10566	broad.mit.edu	37	12	4747301	4747301	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4747301G>A	ENST00000545990.2	-	4	586	c.62C>T	c.(61-63)tCt>tTt	p.S21F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S21F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	21					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S21F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCTCCAGGAGAATAGACATC	0.423																																					p.S21F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C62T	12						.						243.0	235.0	238.0					12																	4747301		2203	4300	6503	4617562	SO:0001583	missense	10566	exon3			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.62C>T	12.37:g.4747301G>A	ENSP00000440994:p.Ser21Phe		4617562	NM_006422	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945889	0.73672	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967;ENST00000536414	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.51	5.51	0.81932	.	0.524430	0.17425	N	0.174699	T	0.51381	0.1671	M	0.68952	2.095	0.37598	D	0.920441	P	0.52316	0.952	P	0.52267	0.694	T	0.58188	-0.7680	10	0.87932	D	0	-9.2632	16.4468	0.83936	0.0:0.0:1.0:0.0	.	21	O75969	AKAP3_HUMAN	F	21	ENSP00000228850:S21F;ENSP00000440994:S21F;ENSP00000442376:S21F;ENSP00000439382:S21F	ENSP00000228850:S21F	S	-	2	0	AKAP3	4617562	0.968000	0.33430	0.993000	0.49108	0.826000	0.46750	1.728000	0.38105	2.868000	0.98415	0.557000	0.71058	TCT		0.423	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
GALNT8	26290	broad.mit.edu	37	12	4829869	4829869	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4829869A>G	ENST00000252318.2	+	1	363	c.26A>G	c.(25-27)aAa>aGa	p.K9R	RP11-234B24.2_ENST00000527518.1_lincRNA|RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	9					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K9R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AAACTCCCCAAAGCCCTCTTC	0.507																																					p.K9R	Colon(108;631 1558 7270 20097 39846)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A26G	12						.						103.0	96.0	98.0					12																	4829869		2203	4300	6503	4700130	SO:0001583	missense	26290	exon1			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.26A>G	12.37:g.4829869A>G	ENSP00000252318:p.Lys9Arg		4700130	NM_017417	B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	A	9.709	1.156491	0.21454	.	.	ENSG00000130035	ENST00000252318	T	0.53206	0.63	4.04	1.7	0.24286	.	7.665550	0.00166	N	0.000000	T	0.32971	0.0847	L	0.29908	0.895	0.09310	N	1	B	0.28082	0.2	B	0.21917	0.037	T	0.11470	-1.0586	10	0.09843	T	0.71	.	5.2235	0.15381	0.7578:0.0:0.2422:0.0	.	9	Q9NY28	GALT8_HUMAN	R	9	ENSP00000252318:K9R	ENSP00000252318:K9R	K	+	2	0	GALNT8	4700130	0.001000	0.12720	0.006000	0.13384	0.135000	0.20990	0.547000	0.23299	0.167000	0.19631	0.374000	0.22700	AAA		0.507	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	
KCNA6	3742	broad.mit.edu	37	12	4919466	4919466	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:4919466G>A	ENST00000280684.3	+	1	1125	c.259G>A	c.(259-261)Gac>Aac	p.D87N	KCNA6_ENST00000433855.1_Missense_Mutation_p.D87N|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	87					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.D87N(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GTACTTCTTCGACCGCAACCG	0.637										HNSCC(72;0.22)																											p.D87N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259A	12						.						50.0	53.0	52.0					12																	4919466		2203	4300	6503	4789727	SO:0001583	missense	3742	exon1			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.259G>A	12.37:g.4919466G>A	ENSP00000280684:p.Asp87Asn		4789727	NM_002235		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897607	0.91962	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.85484	-1.99;-1.99	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.050251	0.85682	D	0.000000	D	0.93618	0.7962	M	0.91140	3.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.95073	0.8206	10	0.87932	D	0	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	87	P17658	KCNA6_HUMAN	N	87	ENSP00000408321:D87N;ENSP00000280684:D87N	ENSP00000280684:D87N	D	+	1	0	KCNA6	4789727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.458000	0.97634	2.291000	0.77112	0.462000	0.41574	GAC		0.637	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
KCNA5	3741	broad.mit.edu	37	12	5154030	5154030	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:5154030C>A	ENST00000252321.3	+	1	946	c.717C>A	c.(715-717)atC>atA	p.I239I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	239					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.I239I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGTGGCTTATCTTCGAGTATC	0.602																																					p.I239I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717A	12						.						93.0	103.0	100.0					12																	5154030		2203	4300	6503	5024291	SO:0001819	synonymous_variant	3741	exon1			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.717C>A	12.37:g.5154030C>A			5024291	NM_002234	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	CCDS8536.1																																																																																				0.602	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
KCNA5	3741	broad.mit.edu	37	12	5154807	5154807	+	Silent	SNP	G	G	A	rs576837393		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:5154807G>A	ENST00000252321.3	+	1	1723	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	498					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.S498S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TCGTGGGCTCGCTGTGTGCCA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18810	0.0		0.0	False		,,,				2504	0.001				p.S498S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1494A	12						.						117.0	107.0	110.0					12																	5154807		2203	4300	6503	5025068	SO:0001819	synonymous_variant	3741	exon1			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1494G>A	12.37:g.5154807G>A			5025068	NM_002234	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	CCDS8536.1																																																																																				0.612	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234	
ANO2	57101	broad.mit.edu	37	12	5685016	5685016	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:5685016C>T	ENST00000356134.5	-	25	2679	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	ANO2_ENST00000546188.1_Missense_Mutation_p.E870K|ANO2_ENST00000327087.8_Missense_Mutation_p.E869K	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	874					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.E870K(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AACTGAACCTCCTGGTCAAAC	0.498																																					p.E869K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2605A	12						.						62.0	63.0	62.0					12																	5685016		1939	4132	6071	5555277	SO:0001583	missense	57101	exon24			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2608G>A	12.37:g.5685016C>T	ENSP00000348453:p.Glu870Lys		5555277	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	13.35	2.211430	0.39102	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.65732	-0.17;-0.16;-0.16	5.28	5.28	0.74379	.	0.263406	0.38778	N	0.001568	T	0.48943	0.1528	L	0.34521	1.04	0.36648	D	0.877239	B	0.15473	0.013	B	0.17979	0.02	T	0.49826	-0.8898	10	0.20046	T	0.44	.	11.7169	0.51659	0.0:0.9194:0.0:0.0806	.	869	Q9NQ90-3	.	K	869;870;870;874	ENSP00000314048:E869K;ENSP00000348453:E870K;ENSP00000440981:E870K	ENSP00000314048:E869K	E	-	1	0	ANO2	5555277	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.810000	0.47979	2.621000	0.88768	0.650000	0.86243	GAG		0.498	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
ANO2	57101	broad.mit.edu	37	12	5708757	5708757	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:5708757G>A	ENST00000356134.5	-	22	2200	c.2129C>T	c.(2128-2130)aCc>aTc	p.T710I	ANO2_ENST00000546188.1_Missense_Mutation_p.T710I|ANO2_ENST00000327087.8_Missense_Mutation_p.T709I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	714					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T710I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCCAGCTTCGGTCTCATCTTT	0.453																																					p.T709I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2126T	12						.						151.0	149.0	150.0					12																	5708757		2112	4237	6349	5579018	SO:0001583	missense	57101	exon21			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2129C>T	12.37:g.5708757G>A	ENSP00000348453:p.Thr710Ile		5579018	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	11.88	1.770599	0.31320	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.63744	-0.06;-0.06;-0.06	5.74	4.85	0.62838	.	0.129128	0.56097	D	0.000024	T	0.50446	0.1616	L	0.41492	1.28	0.33233	D	0.55622	B	0.25609	0.13	B	0.18561	0.022	T	0.58607	-0.7607	10	0.34782	T	0.22	.	11.789	0.52059	0.084:0.0:0.916:0.0	.	709	Q9NQ90-3	.	I	709;710;710;714	ENSP00000314048:T709I;ENSP00000348453:T710I;ENSP00000440981:T710I	ENSP00000314048:T709I	T	-	2	0	ANO2	5579018	0.892000	0.30473	0.988000	0.46212	0.820000	0.46376	3.890000	0.56220	2.717000	0.92951	0.563000	0.77884	ACC		0.453	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
ANO2	57101	broad.mit.edu	37	12	5721837	5721837	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:5721837A>G	ENST00000356134.5	-	21	2146	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S	ANO2_ENST00000546188.1_Missense_Mutation_p.F692S|ANO2_ENST00000327087.8_Missense_Mutation_p.F691S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	696					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F692S(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCCAATCTCAAAGATGTTGTT	0.517																																					p.F691S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2072C	12						.						74.0	74.0	74.0					12																	5721837		1924	4146	6070	5592098	SO:0001583	missense	57101	exon20			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2075T>C	12.37:g.5721837A>G	ENSP00000348453:p.Phe692Ser		5592098	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	A	18.70	3.679832	0.68042	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62232	0.04;0.04;0.04	4.56	4.56	0.56223	.	0.151263	0.64402	D	0.000015	T	0.67552	0.2905	L	0.46157	1.445	0.58432	D	0.999993	D	0.57257	0.979	P	0.60609	0.877	T	0.63825	-0.6549	10	0.25751	T	0.34	.	12.1615	0.54107	1.0:0.0:0.0:0.0	.	691	Q9NQ90-3	.	S	691;692;692;696	ENSP00000314048:F691S;ENSP00000348453:F692S;ENSP00000440981:F692S	ENSP00000314048:F691S	F	-	2	0	ANO2	5592098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.781000	0.91805	2.050000	0.60909	0.533000	0.62120	TTT		0.517	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
ANO2	57101	broad.mit.edu	37	12	6030319	6030319	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6030319C>A	ENST00000356134.5	-	3	480	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C	ANO2_ENST00000546188.1_Missense_Mutation_p.G137C|ANO2_ENST00000327087.8_Missense_Mutation_p.G137C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	141					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G137C(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCAATGTCACCTGGGCCCCCA	0.627																																					p.G137C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409T	12						.						70.0	67.0	68.0					12																	6030319		2008	4156	6164	5900580	SO:0001583	missense	57101	exon3			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.409G>T	12.37:g.6030319C>A	ENSP00000348453:p.Gly137Cys		5900580	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	9.472	1.095906	0.20552	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66815	-0.23;-0.23;-0.23	4.03	3.14	0.36123	.	0.319446	0.28671	N	0.014532	T	0.61009	0.2313	L	0.46157	1.445	0.09310	N	0.999997	D	0.55800	0.973	P	0.46479	0.518	T	0.55016	-0.8206	10	0.54805	T	0.06	.	8.9666	0.35881	0.0:0.8966:0.0:0.1034	.	137	Q9NQ90-3	.	C	137;137;137;141	ENSP00000314048:G137C;ENSP00000348453:G137C;ENSP00000440981:G137C	ENSP00000314048:G137C	G	-	1	0	ANO2	5900580	0.000000	0.05858	0.641000	0.29422	0.039000	0.13416	0.382000	0.20635	0.903000	0.36546	0.563000	0.77884	GGT		0.627	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
VWF	7450	broad.mit.edu	37	12	6085413	6085413	+	Missense_Mutation	SNP	C	C	T	rs370600984		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6085413C>T	ENST00000261405.5	-	43	7555	c.7301G>A	c.(7300-7302)cGa>cAa	p.R2434Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2434	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R2434Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATGGTGCTTCGGTGGACACA	0.547																																					p.R2434Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7301A	12						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	70.0	76.0		7301	-0.5	1.0	12		76	0,8600		0,0,4300	no	missense	VWF	NM_000552.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2434/2814	6085413	1,13005	2203	4300	6503	5955674	SO:0001583	missense	7450	exon43				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7301G>A	12.37:g.6085413C>T	ENSP00000261405:p.Arg2434Gln		5955674	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912436	0.33721	2.27E-4	0.0	ENSG00000110799	ENST00000261405	T	0.64260	-0.09	5.19	-0.517	0.11947	von Willebrand factor, type C (3);	0.319527	0.18110	N	0.151391	T	0.40015	0.1100	N	0.24115	0.695	0.53688	D	0.999971	B	0.22346	0.068	B	0.13407	0.009	T	0.09509	-1.0671	10	0.17369	T	0.5	.	8.8775	0.35354	0.0:0.4529:0.0:0.5471	.	2434	P04275	VWF_HUMAN	Q	2434	ENSP00000261405:R2434Q	ENSP00000261405:R2434Q	R	-	2	0	VWF	5955674	0.159000	0.22864	0.989000	0.46669	0.914000	0.54420	-0.037000	0.12164	-0.023000	0.13963	-0.229000	0.12294	CGA		0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6128534	6128534	+	Silent	SNP	C	C	T	rs143459496	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6128534C>T	ENST00000261405.5	-	28	4304	c.4050G>A	c.(4048-4050)gcG>gcA	p.A1350A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1350	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.A1350A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCTGCCCGCATACTTCA	0.622													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18705	0.0		0.0	False		,,,				2504	0.0				p.A1350A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4050A	12						.	C		7,4399		0,7,2196	54.0	49.0	51.0		4050	-2.2	0.9	12	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		1350/2814	6128534	7,12999	2203	4300	6503	5998795	SO:0001819	synonymous_variant	7450	exon28				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4050G>A	12.37:g.6128534C>T			5998795	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6135135	6135135	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6135135C>T	ENST00000261405.5	-	23	3299	c.3045G>A	c.(3043-3045)gaG>gaA	p.E1015E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1015	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E1015E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTCTTCCTCCACTTGGA	0.527																																					p.E1015E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3045A	12						.						94.0	88.0	90.0					12																	6135135		2203	4300	6503	6005396	SO:0001819	synonymous_variant	7450	exon23				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3045G>A	12.37:g.6135135C>T			6005396	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6167022	6167022	+	Silent	SNP	C	C	T	rs368329035		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6167022C>T	ENST00000261405.5	-	14	1976	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	574	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P574P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TACTCATGCGCGGGTTGAGGG	0.662																																					p.P574P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1722A	12						.	C		0,4402		0,0,2201	71.0	72.0	72.0		1722	1.4	1.0	12		72	2,8594		0,2,4296	no	coding-synonymous	VWF	NM_000552.3		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		574/2814	6167022	2,12996	2201	4298	6499	6037283	SO:0001819	synonymous_variant	7450	exon14				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1722G>A	12.37:g.6167022C>T			6037283	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.662	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6184622	6184622	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6184622C>A	ENST00000261405.5	-	7	1007	c.753G>T	c.(751-753)gaG>gaT	p.E251D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	251					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.E251D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACAAAGTCTTCTCACACAGGG	0.647																																					p.E251D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G753T	12						.						64.0	59.0	61.0					12																	6184622		2203	4300	6503	6054883	SO:0001583	missense	7450	exon7				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.753G>T	12.37:g.6184622C>A	ENSP00000261405:p.Glu251Asp		6054883	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735822	0.49045	.	.	ENSG00000110799	ENST00000261405	T	0.76709	-1.04	4.71	1.18	0.20946	Uncharacterised domain, cysteine-rich (2);	0.000000	0.41396	D	0.000894	D	0.85470	0.5704	M	0.88570	2.965	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.74348	0.973;0.983	T	0.81258	-0.1014	10	0.27082	T	0.32	.	5.7704	0.18249	0.0:0.4239:0.0:0.5761	.	251;251	B4DNX0;P04275	.;VWF_HUMAN	D	251	ENSP00000261405:E251D	ENSP00000261405:E251D	E	-	3	2	VWF	6054883	0.062000	0.20869	0.777000	0.31699	0.269000	0.26545	0.258000	0.18387	0.470000	0.27294	0.561000	0.74099	GAG		0.647	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
SCNN1A	6337	broad.mit.edu	37	12	6457333	6457333	+	Silent	SNP	G	G	A	rs559461583		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6457333G>A	ENST00000228916.2	-	13	1814	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	SCNN1A_ENST00000543768.1_Silent_p.L595L|SCNN1A_ENST00000360168.3_Silent_p.L631L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Silent_p.L594L|SCNN1A_ENST00000540037.1_Silent_p.L272L	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	572					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.L572L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGTCAAAGACGAGCTCAGCCA	0.607																																					p.L631L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1893T	12						.						76.0	73.0	74.0					12																	6457333		2203	4300	6503	6327594	SO:0001819	synonymous_variant	6337	exon12			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1716C>T	12.37:g.6457333G>A			6327594	NM_001159576	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Silent	SNP	ENST00000228916.2	37	CCDS8543.1																																																																																				0.607	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1		
LTBR	4055	broad.mit.edu	37	12	6494471	6494471	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6494471C>T	ENST00000228918.4	+	4	724	c.398C>T	c.(397-399)gCt>gTt	p.A133V	LTBR_ENST00000543190.1_Missense_Mutation_p.A26V|LTBR_ENST00000541102.1_Missense_Mutation_p.A26V|LTBR_ENST00000539925.1_Missense_Mutation_p.A114V	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	133					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.A133V(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ATGTTCTGTGCTGCCTGGGCC	0.637																																					p.A133V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	12						.						54.0	56.0	55.0					12																	6494471		2203	4300	6503	6364732	SO:0001583	missense	4055	exon4			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.398C>T	12.37:g.6494471C>T	ENSP00000228918:p.Ala133Val		6364732	NM_002342	B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	7.818	0.717093	0.15372	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000536876;ENST00000543190;ENST00000541102	T;T;T;T;D	0.97430	0.14;0.14;0.14;-0.69;-4.38	4.02	1.28	0.21552	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.795910	0.11764	N	0.531793	D	0.88295	0.6398	N	0.03917	-0.325	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.79210	-0.1897	9	.	.	.	0.6293	4.7513	0.13063	0.0:0.4784:0.0:0.5216	.	114;114;133	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	114;133;26;128;26;26	ENSP00000440875:A114V;ENSP00000228918:A133V;ENSP00000437647:A128V;ENSP00000438955:A26V;ENSP00000438605:A26V	.	A	+	2	0	LTBR	6364732	0.000000	0.05858	0.006000	0.13384	0.570000	0.35934	0.403000	0.20982	0.054000	0.16065	0.561000	0.74099	GCT		0.637	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1		
TAPBPL	55080	broad.mit.edu	37	12	6562874	6562874	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6562874G>A	ENST00000266556.7	+	3	722	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA|TAPBPL_ENST00000544021.1_Missense_Mutation_p.R109Q|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	186	Ig-like V-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)	p.R186Q(1)		endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GGGACTGTGCGAACTGCAGGT	0.557																																					p.R186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	12						.						21.0	22.0	22.0					12																	6562874		2203	4300	6503	6433135	SO:0001583	missense	55080	exon3			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.557G>A	12.37:g.6562874G>A	ENSP00000266556:p.Arg186Gln		6433135	NM_018009	Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	5.436	0.265526	0.10294	.	.	ENSG00000139192	ENST00000544021;ENST00000266556	T;T	0.42900	0.96;3.18	4.56	-9.12	0.00707	Immunoglobulin-like (1);	0.969423	0.08513	N	0.934583	T	0.09862	0.0242	N	0.01576	-0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.16988	-1.0384	10	0.17369	T	0.5	-0.1374	1.6673	0.02805	0.5092:0.098:0.142:0.2508	.	186	Q9BX59	TPSNR_HUMAN	Q	109;186	ENSP00000445341:R109Q;ENSP00000266556:R186Q	ENSP00000266556:R186Q	R	+	2	0	TAPBPL	6433135	0.000000	0.05858	0.047000	0.18901	0.134000	0.20937	-1.273000	0.02823	-1.597000	0.01609	-0.320000	0.08662	CGA		0.557	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009	
NOP2	4839	broad.mit.edu	37	12	6672891	6672891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6672891C>A	ENST00000322166.5	-	7	698	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	NOP2_ENST00000545200.1_Nonsense_Mutation_p.E189*|NOP2_ENST00000399466.2_Nonsense_Mutation_p.E189*|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Nonsense_Mutation_p.E193*|NOP2_ENST00000382421.3_Nonsense_Mutation_p.E226*|NOP2_ENST00000541778.1_Nonsense_Mutation_p.E189*	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	193					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.E189*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGGTCACTTCTTTCTCTTCC	0.552											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E189X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G565T	12						.						51.0	53.0	52.0					12																	6672891		1939	4126	6065	6543152	SO:0001587	stop_gained	4839	exon7				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.577G>T	12.37:g.6672891C>A	ENSP00000313272:p.Glu193*	635	6543152	NM_006170	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Nonsense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445916	0.63178	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867	.	.	.	2.86	-5.72	0.02406	.	1.681900	0.04492	N	0.379709	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	3.274	7.5914	0.28023	0.0:0.7371:0.1241:0.1389	.	.	.	.	X	193;226;189;189;193;189;69;189	.	ENSP00000313272:E193X	E	-	1	0	NOP2	6543152	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.865000	0.04250	-1.520000	0.01773	0.134000	0.15878	GAA		0.552	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
CHD4	1108	broad.mit.edu	37	12	6701197	6701197	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6701197C>T	ENST00000357008.2	-	20	3138	c.2975G>A	c.(2974-2976)cGa>cAa	p.R992Q	CHD4_ENST00000309577.6_Missense_Mutation_p.R992Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R985Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R989Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	992					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R992Q(2)		central_nervous_system(2)	2						TTCAAAATTTCGAGTGAGGAT	0.453																																					p.R992Q	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2975A	12						.						148.0	145.0	146.0					12																	6701197		2203	4300	6503	6571458	SO:0001583	missense	1108	exon20			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2975G>A	12.37:g.6701197C>T	ENSP00000349508:p.Arg992Gln		6571458	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258054	0.95368	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.59	4.59	0.56863	SNF2-related (1);	0.087525	0.46145	D	0.000316	T	0.81093	0.4751	L	0.35723	1.085	0.80722	D	1	D;D;D	0.71674	0.985;0.982;0.998	P;P;D	0.75484	0.642;0.791;0.986	D	0.83720	0.0192	10	0.87932	D	0	.	17.5807	0.87966	0.0:1.0:0.0:0.0	.	992;992;985	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	989;985;992;992;966	ENSP00000440392:R989Q;ENSP00000440542:R985Q;ENSP00000312419:R992Q;ENSP00000349508:R992Q	ENSP00000312419:R992Q	R	-	2	0	CHD4	6571458	1.000000	0.71417	0.953000	0.39169	0.981000	0.71138	7.601000	0.82783	2.362000	0.80069	0.563000	0.77884	CGA		0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
ACRBP	84519	broad.mit.edu	37	12	6753361	6753361	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6753361C>A	ENST00000229243.2	-	5	979	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	ACRBP_ENST00000536350.1_Missense_Mutation_p.D296Y|ACRBP_ENST00000414226.2_Missense_Mutation_p.D263Y|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein									p.D296Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTCATTTCATCTATTTCCTGG	0.453																																					p.D296Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886T	12						.						94.0	96.0	96.0					12																	6753361		2203	4300	6503	6623622	SO:0001583	missense	84519	exon5			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.886G>T	12.37:g.6753361C>A	ENSP00000229243:p.Asp296Tyr		6623622	NM_032489		Missense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	8.087	0.773587	0.16051	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.50813	0.75;0.73	4.25	3.35	0.38373	.	0.733950	0.12675	N	0.448450	T	0.49558	0.1564	L	0.57536	1.79	0.31600	N	0.652832	P;D	0.55385	0.948;0.971	P;P	0.49561	0.52;0.615	T	0.54741	-0.8248	10	0.40728	T	0.16	-0.4485	8.1816	0.31313	0.0:0.8897:0.0:0.1103	.	263;296	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Y	296;263;296	ENSP00000229243:D296Y;ENSP00000402725:D263Y	ENSP00000229243:D296Y	D	-	1	0	ACRBP	6623622	0.991000	0.36638	0.969000	0.41365	0.103000	0.19146	1.953000	0.40352	1.132000	0.42129	0.561000	0.74099	GAT		0.453	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489	
ACRBP	84519	broad.mit.edu	37	12	6754442	6754442	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6754442G>T	ENST00000229243.2	-	4	512	c.419C>A	c.(418-420)gCt>gAt	p.A140D	ACRBP_ENST00000536350.1_Missense_Mutation_p.A140D|ACRBP_ENST00000414226.2_Missense_Mutation_p.A140D|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein									p.A140D(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTCAGCTGAAGCTTCTATCTC	0.532																																					p.A140D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419A	12						.						158.0	154.0	155.0					12																	6754442		2203	4300	6503	6624703	SO:0001583	missense	84519	exon4			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.419C>A	12.37:g.6754442G>T	ENSP00000229243:p.Ala140Asp		6624703	NM_032489		Missense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217541	0.22373	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350;ENST00000546114	T;T	0.46819	0.92;0.86	4.41	1.57	0.23409	.	1.096420	0.07004	N	0.823883	T	0.33323	0.0859	N	0.22421	0.69	0.09310	N	1	B;B	0.26708	0.077;0.157	B;B	0.28553	0.042;0.091	T	0.36261	-0.9755	10	0.72032	D	0.01	-0.0223	4.4347	0.11545	0.2015:0.1864:0.6121:0.0	.	140;140	E7EP66;Q8NEB7	.;ACRBP_HUMAN	D	140	ENSP00000229243:A140D;ENSP00000402725:A140D	ENSP00000229243:A140D	A	-	2	0	ACRBP	6624703	0.001000	0.12720	0.000000	0.03702	0.052000	0.14988	0.607000	0.24209	0.363000	0.24346	0.561000	0.74099	GCT		0.532	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489	
ACRBP	84519	broad.mit.edu	37	12	6755661	6755661	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6755661G>T	ENST00000229243.2	-	3	438	c.345C>A	c.(343-345)gtC>gtA	p.V115V	ACRBP_ENST00000536350.1_Silent_p.V115V|ACRBP_ENST00000414226.2_Silent_p.V115V|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein									p.V115V(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TGGCATAGTAGACGTGGTTGG	0.577																																					p.V115V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345A	12						.						137.0	124.0	129.0					12																	6755661		2203	4300	6503	6625922	SO:0001819	synonymous_variant	84519	exon3			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.345C>A	12.37:g.6755661G>T			6625922	NM_032489		Silent	SNP	ENST00000229243.2	37	CCDS8554.1																																																																																				0.577	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489	
GPR162	27239	broad.mit.edu	37	12	6936003	6936003	+	Silent	SNP	C	C	T	rs141548833		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6936003C>T	ENST00000311268.3	+	5	2188	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000382315.3_Silent_p.D163D|GPR162_ENST00000428545.2_Silent_p.D183D	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	467						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D467D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACGAGGAGGACGAGGAAGAGG	0.652																																					p.D467D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1401T	12						.	C	,	2,4404	4.2+/-10.8	0,2,2201	50.0	62.0	58.0		549,1401	-9.6	0.0	12	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPR162	NM_014449.1,NM_019858.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	183/305,467/589	6936003	2,13004	2203	4300	6503	6806264	SO:0001819	synonymous_variant	27239	exon5			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1401C>T	12.37:g.6936003C>T			6806264	NM_019858	Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	CCDS8563.1																																																																																				0.652	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858	
USP5	8078	broad.mit.edu	37	12	6970161	6970161	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:6970161C>A	ENST00000229268.8	+	12	1441	c.1389C>A	c.(1387-1389)ttC>ttA	p.F463L	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.F463L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	463	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.F463L(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGTTCCGCTTCTTGGTGGAGG	0.552																																					p.F463L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1389A	12						.						194.0	195.0	195.0					12																	6970161		2203	4300	6503	6840422	SO:0001583	missense	8078	exon12			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1389C>A	12.37:g.6970161C>A	ENSP00000229268:p.Phe463Leu		6840422	NM_003481	D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235153	0.79800	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.74209	-0.82;-0.82	5.14	4.24	0.50183	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.90595	3.13	0.80722	D	1	D;P	0.76494	0.999;0.72	D;P	0.91635	0.999;0.447	D	0.88520	0.3095	10	0.62326	D	0.03	-5.808	11.0035	0.47620	0.0:0.8359:0.0:0.1641	.	463;463	P45974;P45974-2	UBP5_HUMAN;.	L	463	ENSP00000229268:F463L;ENSP00000373883:F463L	ENSP00000229268:F463L	F	+	3	2	USP5	6840422	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.510000	0.35790	1.361000	0.45981	0.561000	0.74099	TTC		0.552	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1		
ATN1	1822	broad.mit.edu	37	12	7050633	7050633	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7050633G>A	ENST00000356654.4	+	9	3692	c.3455G>A	c.(3454-3456)cGc>cAc	p.R1152H	C12orf57_ENST00000537087.1_5'Flank|U47924.31_ENST00000607421.1_RNA|ATN1_ENST00000396684.2_Missense_Mutation_p.R1152H|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000229281.5_5'Flank|C12orf57_ENST00000544681.1_5'Flank|C12orf57_ENST00000540506.2_5'Flank	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1152					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.R1152H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCTGCAGCGCTTGGCGCTG	0.652																																					p.R1152H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3455A	12						.						49.0	50.0	49.0					12																	7050633		2203	4297	6500	6920894	SO:0001583	missense	1822	exon9			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3455G>A	12.37:g.7050633G>A	ENSP00000349076:p.Arg1152His		6920894	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647780	0.87958	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.62232	0.04;0.04;0.04	4.32	3.43	0.39272	.	0.000000	0.34555	U	0.003865	T	0.74749	0.3757	M	0.64170	1.965	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.77392	-0.2605	10	0.87932	D	0	.	12.5227	0.56069	0.0809:0.0:0.9191:0.0	.	1152	P54259	ATN1_HUMAN	H	1152;1152;1152;737	ENSP00000349076:R1152H;ENSP00000379915:R1152H;ENSP00000441744:R1152H	ENSP00000229279:R737H	R	+	2	0	ATN1	6920894	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.657000	0.98554	1.192000	0.43071	0.655000	0.94253	CGC		0.652	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
C1S	716	broad.mit.edu	37	12	7173871	7173871	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7173871G>A	ENST00000406697.1	+	11	1549	c.921G>A	c.(919-921)gcG>gcA	p.A307A	C1S_ENST00000328916.3_Silent_p.A307A|C1S_ENST00000402681.3_Silent_p.A140A|C1S_ENST00000360817.5_Silent_p.A307A			P09871	C1S_HUMAN	complement component 1, s subcomponent	307	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.A307A(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)	GGGAGCCTGCGAAGGCAAAAT	0.458																																					p.A307A	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G921A	12						.						113.0	114.0	114.0					12																	7173871		2203	4300	6503	7044132	SO:0001819	synonymous_variant	716	exon8				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.921G>A	12.37:g.7173871G>A			7044132	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	ENST00000406697.1	37	CCDS31735.1																																																																																				0.458	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
C1S	716	broad.mit.edu	37	12	7174350	7174350	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7174350T>C	ENST00000406697.1	+	12	1623	c.995T>C	c.(994-996)gTt>gCt	p.V332A	C1S_ENST00000328916.3_Missense_Mutation_p.V332A|C1S_ENST00000402681.3_Missense_Mutation_p.V165A|C1S_ENST00000360817.5_Missense_Mutation_p.V332A			P09871	C1S_HUMAN	complement component 1, s subcomponent	332	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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.V332A(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)	CAGGGACGTGTTGGTGCAACA	0.383																																					p.V332A	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T995C	12						.						151.0	137.0	142.0					12																	7174350		2203	4300	6503	7044611	SO:0001583	missense	716	exon9				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.995T>C	12.37:g.7174350T>C	ENSP00000385035:p.Val332Ala		7044611	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	7.171	0.587567	0.13812	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.74	2.21	0.28008	Complement control module (2);Sushi/SCR/CCP (3);	0.194329	0.25509	N	0.030194	T	0.68778	0.3038	L	0.51914	1.62	0.09310	N	1	B	0.26120	0.142	B	0.36030	0.216	T	0.52238	-0.8602	10	0.09084	T	0.74	.	6.5942	0.22664	0.0:0.2696:0.0:0.7304	.	332	P09871	C1S_HUMAN	A	332;332;332;320;165	ENSP00000385035:V332A;ENSP00000328173:V332A;ENSP00000354057:V332A;ENSP00000384171:V165A	ENSP00000328173:V332A	V	+	2	0	C1S	7044611	0.000000	0.05858	0.025000	0.17156	0.425000	0.31504	0.131000	0.15870	0.461000	0.27071	0.459000	0.35465	GTT		0.383	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
C1R	715	broad.mit.edu	37	12	7188279	7188279	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7188279C>T	ENST00000542285.1	-	11	1668	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T				P00736	C1R_HUMAN	complement component 1, r subcomponent	559	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.A522T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCAGCAGGGCGATGTCCCCC	0.567																																					p.A457T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1369A	12						.						99.0	106.0	104.0					12																	7188279		2187	4291	6478	7058534	SO:0001583	missense	715	exon8			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1519G>A	12.37:g.7188279C>T	ENSP00000438615:p.Ala507Thr		7058534	NM_001733	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.632016	0.96682	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.68479	-0.33	5.64	5.64	0.86602	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.83737	0.5319	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85296	0.1070	9	0.87932	D	0	.	19.7027	0.96062	0.0:1.0:0.0:0.0	.	559	P00736	C1R_HUMAN	T	522;507	ENSP00000438615:A507T	ENSP00000290575:A522T	A	-	1	0	C1R	7058534	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.534000	0.82004	2.646000	0.89796	0.655000	0.94253	GCC		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733	
CLSTN3	9746	broad.mit.edu	37	12	7286336	7286336	+	Missense_Mutation	SNP	G	G	A	rs144627317	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7286336G>A	ENST00000266546.6	+	3	805	c.355G>A	c.(355-357)Gac>Aac	p.D119N	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D131N|RP11-273B20.1_ENST00000538062.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	119	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D119N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CGAGGGCCCCGACGGGGCCAA	0.627																																					p.D119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	12						.	G	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	46.0	41.0	43.0		355	5.1	0.5	12	dbSNP_134	43	0,8600		0,0,4300	yes	missense	CLSTN3	NM_014718.3	23	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	119/957	7286336	4,13002	2203	4300	6503	7177603	SO:0001583	missense	9746	exon3			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.355G>A	12.37:g.7286336G>A	ENSP00000266546:p.Asp119Asn		7177603	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332175	0.81801	9.08E-4	0.0	ENSG00000139182	ENST00000541953;ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.07	5.07	0.68467	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.31294	0.92	0.80722	D	1	D;P	0.76494	0.999;0.573	D;B	0.75020	0.985;0.087	T	0.56044	-0.8044	10	0.51188	T	0.08	-23.6201	18.4631	0.90746	0.0:0.0:1.0:0.0	.	131;119	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	N	119;119;82;82;82;102;131	ENSP00000443959:D119N;ENSP00000266546:D119N;ENSP00000442612:D82N;ENSP00000443468:D82N;ENSP00000443490:D82N;ENSP00000442801:D102N;ENSP00000440679:D131N	ENSP00000266546:D119N	D	+	1	0	CLSTN3	7177603	1.000000	0.71417	0.477000	0.27303	0.982000	0.71751	9.476000	0.97823	2.347000	0.79759	0.561000	0.74099	GAC		0.627	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
CLSTN3	9746	broad.mit.edu	37	12	7288882	7288882	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7288882G>T	ENST00000266546.6	+	6	1273	c.823G>T	c.(823-825)Gaa>Taa	p.E275*	CLSTN3_ENST00000537408.1_Nonsense_Mutation_p.E287*	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	275					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.E275*(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACCTGTGATGAACCACTCTG	0.562																																					p.E275X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G823T	12						.						110.0	97.0	101.0					12																	7288882		2203	4300	6503	7180149	SO:0001587	stop_gained	9746	exon6			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.823G>T	12.37:g.7288882G>T	ENSP00000266546:p.Glu275*		7180149	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Nonsense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	44	11.250452	0.99537	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-18.2836	19.0734	0.93150	0.0:0.0:1.0:0.0	.	.	.	.	X	275;287	.	ENSP00000266546:E275X	E	+	1	0	CLSTN3	7180149	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	GAA		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
ACSM4	341392	broad.mit.edu	37	12	7459190	7459190	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7459190A>C	ENST00000399422.4	+	2	311	c.263A>C	c.(262-264)aAa>aCa	p.K88T		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	88					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						GATGAGGTAAAATGGAGCTTC	0.562																																					p.K88T												.	.	0			c.A263C	12						.						59.0	70.0	66.0					12																	7459190		2085	4253	6338	7350457	SO:0001583	missense	341392	exon2				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.263A>C	12.37:g.7459190A>C	ENSP00000382349:p.Lys88Thr		7350457	NM_001080454	A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281617	0.59758	.	.	ENSG00000215009	ENST00000399422	T	0.39592	1.07	5.13	3.99	0.46301	.	0.000000	0.40640	U	0.001046	T	0.43722	0.1260	N	0.25992	0.78	0.33303	D	0.565039	D	0.67145	0.996	P	0.61477	0.889	T	0.54125	-0.8340	10	0.37606	T	0.19	-1.7466	9.21	0.37313	0.9121:0.0:0.0879:0.0	.	88	P0C7M7	ACSM4_HUMAN	T	88	ENSP00000382349:K88T	ENSP00000382349:K88T	K	+	2	0	ACSM4	7350457	0.972000	0.33761	0.999000	0.59377	0.994000	0.84299	2.215000	0.42862	0.911000	0.36747	0.533000	0.62120	AAA		0.562	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
ACSM4	341392	broad.mit.edu	37	12	7475017	7475017	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7475017T>C	ENST00000399422.4	+	7	1053	c.1005T>C	c.(1003-1005)taT>taC	p.Y335Y		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	335					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TCTCCAGATATAAATTCAAGA	0.507																																					p.Y335Y												.	.	0			c.T1005C	12						.						52.0	52.0	52.0					12																	7475017		1904	4124	6028	7366284	SO:0001819	synonymous_variant	341392	exon7				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1005T>C	12.37:g.7475017T>C			7366284	NM_001080454	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.507	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
ACSM4	341392	broad.mit.edu	37	12	7479625	7479625	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7479625G>A	ENST00000399422.4	+	12	1638	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	530					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACAACCCAGAGAAATTAACTC	0.373																																					p.E530E												.	.	0			c.G1590A	12						.						67.0	61.0	63.0					12																	7479625		1830	4093	5923	7370892	SO:0001819	synonymous_variant	341392	exon12				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1590G>A	12.37:g.7479625G>A			7370892	NM_001080454	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.373	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
CD163L1	283316	broad.mit.edu	37	12	7510025	7510025	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7510025A>C	ENST00000313599.3	-	19	4394	c.4337T>G	c.(4336-4338)cTt>cGt	p.L1446R	CD163L1_ENST00000396630.1_Missense_Mutation_p.L1414R|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1456R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1446						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L1446R(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGGCAGGAAGAACTCCCAA	0.418																																					p.L1446R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4337G	12						.						96.0	91.0	93.0					12																	7510025		2203	4300	6503	7401292	SO:0001583	missense	283316	exon19			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4337T>G	12.37:g.7510025A>C	ENSP00000315945:p.Leu1446Arg		7401292	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	7.404	0.633426	0.14322	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.02763	4.83;4.82;4.17	1.07	-0.484	0.12071	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999998	D;D	0.71674	0.998;0.968	D;P	0.77557	0.99;0.452	T	0.45687	-0.9244	9	0.25106	T	0.35	.	3.1544	0.06499	0.6017:0.0:0.3983:0.0	.	1456;1446	E7EVK4;Q9NR16	.;C163B_HUMAN	R	1446;1456;1414	ENSP00000315945:L1446R;ENSP00000393474:L1456R;ENSP00000379871:L1414R	ENSP00000315945:L1446R	L	-	2	0	CD163L1	7401292	0.080000	0.21391	0.264000	0.24511	0.183000	0.23260	-0.074000	0.11450	-0.156000	0.11079	0.448000	0.29417	CTT		0.418	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
CD163L1	283316	broad.mit.edu	37	12	7527940	7527940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7527940G>A	ENST00000313599.3	-	11	2995	c.2938C>T	c.(2938-2940)Caa>Taa	p.Q980*	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.Q980*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.Q990*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	980	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.Q980*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTGTCATTTGACAGTTATCC	0.423																																					p.Q980X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2938T	12						.						94.0	82.0	86.0					12																	7527940		2203	4300	6503	7419207	SO:0001587	stop_gained	283316	exon11			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2938C>T	12.37:g.7527940G>A	ENSP00000315945:p.Gln980*		7419207	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Nonsense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	38	6.639636	0.97726	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	.	.	.	2.29	2.29	0.28610	.	0.437595	0.18575	U	0.137211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	4.9677	0.14098	0.174:0.0:0.826:0.0	.	.	.	.	X	980;990;980	.	ENSP00000315945:Q980X	Q	-	1	0	CD163L1	7419207	0.000000	0.05858	0.004000	0.12327	0.652000	0.38707	-0.127000	0.10547	1.577000	0.49804	0.455000	0.32223	CAA		0.423	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
CD163L1	283316	broad.mit.edu	37	12	7559282	7559282	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7559282G>A	ENST00000313599.3	-	5	990	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CD163L1_ENST00000396630.1_Silent_p.F311F|CD163L1_ENST00000416109.2_Silent_p.F321F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	311	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.F311F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAAGCCAGCGAAGTGAAGTG	0.507																																					p.F311F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	12						.						289.0	222.0	244.0					12																	7559282		2203	4300	6503	7450549	SO:0001819	synonymous_variant	283316	exon5			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.933C>T	12.37:g.7559282G>A			7450549	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.507	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
GDF3	9573	broad.mit.edu	37	12	7842521	7842521	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7842521G>T	ENST00000329913.3	-	2	1095	c.1048C>A	c.(1048-1050)Cta>Ata	p.L350I		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	350					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.L350I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TAATGTCGTAGAATGACATTG	0.448																																					p.L350I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048A	12						.						109.0	99.0	102.0					12																	7842521		2203	4300	6503	7733788	SO:0001583	missense	9573	exon2			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.1048C>A	12.37:g.7842521G>T	ENSP00000331745:p.Leu350Ile		7733788	NM_020634	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199477	0.58126	.	.	ENSG00000184344	ENST00000329913	T	0.77620	-1.11	3.78	0.668	0.17912	Transforming growth factor-beta, C-terminal (3);	0.067888	0.64402	N	0.000010	D	0.83119	0.5185	M	0.69823	2.125	0.54753	D	0.999989	D	0.64830	0.994	D	0.91635	0.999	T	0.79487	-0.1783	10	0.87932	D	0	.	5.3109	0.15829	0.2215:0.1786:0.5999:0.0	.	350	Q9NR23	GDF3_HUMAN	I	350	ENSP00000331745:L350I	ENSP00000331745:L350I	L	-	1	2	GDF3	7733788	0.992000	0.36948	0.306000	0.25113	0.966000	0.64601	2.103000	0.41806	0.002000	0.14630	-0.258000	0.10820	CTA		0.448	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
CLEC4C	170482	broad.mit.edu	37	12	7894042	7894042	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7894042G>A	ENST00000542353.1	-	4	700	c.210C>T	c.(208-210)tgC>tgT	p.C70C	CLEC4C_ENST00000540085.1_Silent_p.C39C|CLEC4C_ENST00000360345.3_Silent_p.C70C|CLEC4C_ENST00000354629.5_Silent_p.C39C	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	70					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.C70C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTTCCATGACGCAGGTCAGGC	0.413																																					p.C39C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	12						.						195.0	165.0	175.0					12																	7894042		2203	4300	6503	7785309	SO:0001819	synonymous_variant	170482	exon3			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.210C>T	12.37:g.7894042G>A			7785309	NM_203503	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Silent	SNP	ENST00000542353.1	37	CCDS8583.1																																																																																				0.413	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
SLC2A14	144195	broad.mit.edu	37	12	7970528	7970528	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7970528C>T	ENST00000543909.1	-	15	2002	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	SLC2A14_ENST00000542546.1_Missense_Mutation_p.E306K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E430K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E392K|SLC2A14_ENST00000542505.1_Missense_Mutation_p.E56K|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E415K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E392K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E306K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	415					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.E415K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTGAAGAGTTCGGCCACAATA	0.557																																					p.E415K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1243A	12						.						35.0	38.0	37.0					12																	7970528		2203	4298	6501	7861795	SO:0001583	missense	144195	exon11			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1243G>A	12.37:g.7970528C>T	ENSP00000440480:p.Glu415Lys		7861795	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240840	0.79912	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.31	3.31	0.37934	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94285	0.8164	H	0.97214	3.96	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.976;0.984;0.987	P;P;P;D	0.66847	0.84;0.672;0.855;0.947	D	0.95525	0.8598	10	0.87932	D	0	.	12.4172	0.55500	0.0:1.0:0.0:0.0	.	430;306;392;415	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	K	392;415;392;56;415;306;306;430	ENSP00000340450:E392K;ENSP00000440480:E415K;ENSP00000407287:E392K;ENSP00000438484:E56K;ENSP00000379834:E415K;ENSP00000440492:E306K;ENSP00000443903:E306K;ENSP00000445929:E430K	ENSP00000340450:E392K	E	-	1	0	SLC2A14	7861795	1.000000	0.71417	0.989000	0.46669	0.805000	0.45488	6.898000	0.75676	1.546000	0.49388	0.195000	0.17529	GAA		0.557	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
SLC2A14	144195	broad.mit.edu	37	12	7972173	7972173	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:7972173G>T	ENST00000543909.1	-	14	1804	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	SLC2A14_ENST00000542546.1_Missense_Mutation_p.L240M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L364M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L326M|SLC2A14_ENST00000542505.1_De_novo_Start_InFrame|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L349M|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L326M|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L240M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	349					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.L349M(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTTTCCACCAGAAATAGCTGG	0.423																																					p.L349M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1045A	12						.						29.0	25.0	27.0					12																	7972173		2201	4278	6479	7863440	SO:0001583	missense	144195	exon10			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1045C>A	12.37:g.7972173G>T	ENSP00000440480:p.Leu349Met		7863440	NM_153449	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032097	0.35893	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	2.56	1.64	0.23874	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.166104	0.42420	D	0.000710	D	0.91392	0.7284	M	0.94021	3.485	0.45108	D	0.998126	D;D;D;D	0.55385	0.971;0.971;0.964;0.971	D;D;P;P	0.64506	0.926;0.926;0.841;0.902	D	0.87874	0.2673	10	0.66056	D	0.02	.	3.1801	0.06582	0.1538:0.0:0.5874:0.2588	.	364;240;326;349	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	M	326;349;326;349;240;240;364	ENSP00000340450:L326M;ENSP00000440480:L349M;ENSP00000407287:L326M;ENSP00000379834:L349M;ENSP00000440492:L240M;ENSP00000443903:L240M;ENSP00000445929:L364M	ENSP00000340450:L326M	L	-	1	2	SLC2A14	7863440	0.878000	0.30173	0.845000	0.33349	0.308000	0.27856	0.298000	0.19120	0.405000	0.25532	0.184000	0.17185	CTG		0.423	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
C3AR1	719	broad.mit.edu	37	12	8211979	8211979	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8211979T>G	ENST00000307637.4	-	2	1006	c.803A>C	c.(802-804)aAa>aCa	p.K268T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	268					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.K268T(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACTGGGGATTTTAGGTGAGAC	0.428																																					p.K268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803C	12						.						66.0	69.0	68.0					12																	8211979		2203	4300	6503	8103246	SO:0001583	missense	719	exon2			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.803A>C	12.37:g.8211979T>G	ENSP00000302079:p.Lys268Thr		8103246	NM_004054	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	0.269	-0.994034	0.02145	.	.	ENSG00000171860	ENST00000307637	T	0.71222	-0.55	4.63	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	1.876120	0.03022	N	0.150913	T	0.43787	0.1263	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15378	-1.0439	10	0.21540	T	0.41	.	1.6782	0.02826	0.2839:0.1819:0.4086:0.1257	.	268	Q16581	C3AR_HUMAN	T	268	ENSP00000302079:K268T	ENSP00000302079:K268T	K	-	2	0	C3AR1	8103246	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.857000	0.04286	-0.289000	0.09038	-1.096000	0.02151	AAA		0.428	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
C3AR1	719	broad.mit.edu	37	12	8212307	8212307	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8212307C>T	ENST00000307637.4	-	2	678	c.475G>A	c.(475-477)Gtg>Atg	p.V159M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	159					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.V159M(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TCCCGGTACACGAACACAGGA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001				p.V159M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	12						.						182.0	151.0	161.0					12																	8212307		2203	4300	6503	8103574	SO:0001583	missense	719	exon2			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.475G>A	12.37:g.8212307C>T	ENSP00000302079:p.Val159Met		8103574	NM_004054	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	2.629	-0.286726	0.05605	.	.	ENSG00000171860	ENST00000307637	T	0.72505	-0.66	5.46	-10.9	0.00192	GPCR, rhodopsin-like superfamily (1);	2.176640	0.02069	N	0.051428	T	0.53932	0.1827	L	0.38953	1.18	0.09310	N	1	B	0.23377	0.084	B	0.25291	0.059	T	0.35968	-0.9767	10	0.29301	T	0.29	.	6.8046	0.23770	0.0969:0.529:0.1505:0.2236	.	159	Q16581	C3AR_HUMAN	M	159	ENSP00000302079:V159M	ENSP00000302079:V159M	V	-	1	0	C3AR1	8103574	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.941000	0.01542	-2.638000	0.00430	-1.202000	0.01658	GTG		0.448	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
ZNF705A	440077	broad.mit.edu	37	12	8329638	8329638	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8329638C>T	ENST00000359286.4	+	5	451	c.362C>T	c.(361-363)tCg>tTg	p.S121L		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S121L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTAATGATTCGGGAGAAGAT	0.388													c|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				p.S121L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362T	12						.						86.0	88.0	87.0					12																	8329638		2202	4291	6493	8220905	SO:0001583	missense	440077	exon5			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.362C>T	12.37:g.8329638C>T	ENSP00000352233:p.Ser121Leu		8220905	NM_001004328		Missense_Mutation	SNP	ENST00000359286.4	37	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	2.620	-0.288826	0.05605	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.01560	4.77;4.77	1.35	0.0886	0.14455	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01254	0.0041	N	0.14661	0.345	0.24768	N	0.992889	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	9	0.56958	D	0.05	.	4.8955	0.13748	0.0:0.1923:0.0:0.8077	.	121	Q6ZN79	Z705A_HUMAN	L	121	ENSP00000379816:S121L;ENSP00000352233:S121L	ENSP00000352233:S121L	S	+	2	0	ZNF705A	8220905	0.865000	0.29922	0.060000	0.19600	0.032000	0.12392	1.279000	0.33191	0.021000	0.15133	-0.939000	0.02691	TCG		0.388	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328	
CLEC4E	26253	broad.mit.edu	37	12	8688692	8688692	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8688692G>T	ENST00000299663.3	-	5	647	c.482C>A	c.(481-483)tCt>tAt	p.S161Y	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Missense_Mutation_p.S116Y	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S161Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TTACCTCAGAGACTTTGTCAA	0.443																																					p.S161Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482A	12						.						87.0	82.0	84.0					12																	8688692		2203	4300	6503	8579959	SO:0001583	missense	26253	exon5			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.482C>A	12.37:g.8688692G>T	ENSP00000299663:p.Ser161Tyr		8579959	NM_014358	B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599443	0.66332	.	.	ENSG00000166523	ENST00000299663;ENST00000545274	T;T	0.20463	2.15;2.07	5.53	2.48	0.30137	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.566609	0.16128	N	0.228344	T	0.30262	0.0759	L	0.38175	1.15	0.09310	N	1	D	0.59767	0.986	D	0.64237	0.923	T	0.04178	-1.0971	10	0.72032	D	0.01	.	8.7848	0.34814	0.0:0.1443:0.5587:0.2969	.	161	Q9ULY5	CLC4E_HUMAN	Y	161;116	ENSP00000299663:S161Y;ENSP00000443034:S116Y	ENSP00000299663:S161Y	S	-	2	0	CLEC4E	8579959	0.049000	0.20398	0.341000	0.25589	0.779000	0.44077	1.330000	0.33781	0.784000	0.33661	0.585000	0.79938	TCT		0.443	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358	
RIMKLB	57494	broad.mit.edu	37	12	8902460	8902460	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8902460C>A	ENST00000538135.1	+	3	1003	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.L60M|RIMKLB_ENST00000357529.3_Missense_Mutation_p.L60M			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	60					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.L60M(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TATTTCAGGTCTGCGGATCAA	0.403																																					p.L60M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178A	12						.						33.0	32.0	32.0					12																	8902460		1872	4103	5975	8793727	SO:0001583	missense	57494	exon4			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.178C>A	12.37:g.8902460C>A	ENSP00000440943:p.Leu60Met		8793727	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	8.623	0.891763	0.17613	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	2.63	0.31362	.	0.000000	0.56097	U	0.000031	T	0.37544	0.1007	L	0.38838	1.175	0.45318	D	0.998315	B;B	0.31009	0.303;0.061	B;B	0.29942	0.109;0.034	T	0.15925	-1.0420	9	0.59425	D	0.04	.	5.2434	0.15483	0.1422:0.6254:0.0:0.2324	.	60;60	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	M	60;60;121;60;60;60	.	ENSP00000350136:L60M	L	+	1	2	RIMKLB	8793727	1.000000	0.71417	0.570000	0.28473	0.274000	0.26718	2.910000	0.48766	0.266000	0.21894	0.591000	0.81541	CTG		0.403	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
RIMKLB	57494	broad.mit.edu	37	12	8902618	8902618	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8902618C>T	ENST00000538135.1	+	3	1161	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000357529.3_Silent_p.C112C			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	112					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.C112C(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473																																					p.C112C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	12						.						99.0	93.0	95.0					12																	8902618		1924	4115	6039	8793885	SO:0001819	synonymous_variant	57494	exon4			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.336C>T	12.37:g.8902618C>T			8793885	NM_020734	B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	CCDS41748.1																																																																																				0.473	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734	
A2ML1	144568	broad.mit.edu	37	12	8975916	8975916	+	Missense_Mutation	SNP	A	A	C	rs371564965		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8975916A>C	ENST00000299698.7	+	2	381	c.201A>C	c.(199-201)gaA>gaC	p.E67D	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.E67D(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTGCTAGAATACTCTGGAC	0.473																																					p.E67D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A201C	12						.						99.0	99.0	99.0					12																	8975916		1932	4131	6063	8867183	SO:0001583	missense	144568	exon2			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.201A>C	12.37:g.8975916A>C	ENSP00000299698:p.Glu67Asp		8867183	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834747	0.32421	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.34072	1.38	4.25	1.85	0.25348	.	0.355450	0.21084	N	0.080427	T	0.15565	0.0375	N	0.08118	0	0.31747	N	0.635077	B	0.23490	0.086	B	0.24269	0.052	T	0.10730	-1.0617	10	0.30854	T	0.27	.	4.4525	0.11628	0.6969:0.1993:0.1038:0.0	.	67	A8K2U0	A2ML1_HUMAN	D	67	ENSP00000299698:E67D	ENSP00000299698:E67D	E	+	3	2	A2ML1	8867183	0.080000	0.21391	0.164000	0.22755	0.950000	0.60333	0.625000	0.24477	0.397000	0.25310	0.460000	0.39030	GAA		0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	8995759	8995759	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8995759T>C	ENST00000299698.7	+	12	1458	c.1278T>C	c.(1276-1278)taT>taC	p.Y426Y	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.Y426Y(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTAGTATATAATCCGGAAC	0.478																																					p.Y426Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1278C	12						.						87.0	88.0	87.0					12																	8995759		1937	4137	6074	8887026	SO:0001819	synonymous_variant	144568	exon12			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1278T>C	12.37:g.8995759T>C			8887026	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.478	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9001387	9001387	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9001387G>A	ENST00000299698.7	+	16	2085	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Silent_p.V144V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.V635V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTGTCCAGTGTCTGGCCCAT	0.532																																					p.V635V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1905A	12						.						187.0	174.0	178.0					12																	9001387		1977	4154	6131	8892654	SO:0001819	synonymous_variant	144568	exon16			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1905G>A	12.37:g.9001387G>A			8892654	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9007408	9007408	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9007408C>T	ENST00000299698.7	+	22	2925	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	A2ML1_ENST00000539547.1_Silent_p.S424S	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.S915S(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGACACACAGCTCATTGCTGT	0.443																																					p.S915S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2745T	12						.						85.0	86.0	86.0					12																	9007408		1953	4154	6107	8898675	SO:0001819	synonymous_variant	144568	exon22			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2745C>T	12.37:g.9007408C>T			8898675	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2ML1	144568	broad.mit.edu	37	12	9016534	9016534	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9016534C>T	ENST00000299698.7	+	29	3827	c.3647C>T	c.(3646-3648)gCg>gTg	p.A1216V	A2ML1_ENST00000539547.1_Missense_Mutation_p.A725V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.A1216V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AAGGAGATAGCGAAGGCCACT	0.532																																					p.A1216V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3647T	12						.						71.0	72.0	72.0					12																	9016534		1959	4131	6090	8907801	SO:0001583	missense	144568	exon29			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3647C>T	12.37:g.9016534C>T	ENSP00000299698:p.Ala1216Val		8907801	NM_144670		Missense_Mutation	SNP	ENST00000299698.7	37	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991770	0.54041	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.38077	1.16;1.16;1.16	4.38	2.52	0.30459	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.545863	0.16521	N	0.210810	T	0.28300	0.0699	L	0.28458	0.855	0.23162	N	0.9982	P	0.51147	0.942	P	0.48627	0.584	T	0.06006	-1.0851	10	0.40728	T	0.16	.	4.3714	0.11249	0.1613:0.592:0.1567:0.09	.	1216	A8K2U0	A2ML1_HUMAN	V	1216;1216;766;725	ENSP00000299698:A1216V;ENSP00000443174:A766V;ENSP00000438292:A725V	ENSP00000299698:A1216V	A	+	2	0	A2ML1	8907801	0.000000	0.05858	0.995000	0.50966	0.952000	0.60782	-0.043000	0.12043	1.173000	0.42796	0.591000	0.81541	GCG		0.532	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2M	2	broad.mit.edu	37	12	9232361	9232361	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9232361G>A	ENST00000318602.7	-	24	3212	c.2905C>T	c.(2905-2907)Ccc>Tcc	p.P969S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	969					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.P969S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGCCATAGGGCATCTGGAGA	0.423																																					p.P969S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2905T	12						.						111.0	106.0	107.0					12																	9232361		2067	4240	6307	9123628	SO:0001583	missense	2	exon24			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2905C>T	12.37:g.9232361G>A	ENSP00000323929:p.Pro969Ser		9123628	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034824	0.93575	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	D	0.95821	-3.82	5.08	5.08	0.68730	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.97962	4.115	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99671	1.0996	10	0.87932	D	0	.	18.4343	0.90638	0.0:0.0:1.0:0.0	.	969	P01023	A2MG_HUMAN	S	969;984	ENSP00000323929:P969S	ENSP00000323929:P969S	P	-	1	0	A2M	9123628	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.570000	0.98174	2.525000	0.85131	0.467000	0.42956	CCC		0.423	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
A2M	2	broad.mit.edu	37	12	9243030	9243030	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9243030C>A	ENST00000318602.7	-	20	2825	c.2518G>T	c.(2518-2520)Gag>Tag	p.E840*		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	840					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.E840*(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGTTCCTTCTCCACTGGGACA	0.532																																					p.E840X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2518T	12						.						103.0	107.0	105.0					12																	9243030		2125	4266	6391	9134297	SO:0001587	stop_gained	2	exon20			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2518G>T	12.37:g.9243030C>A	ENSP00000323929:p.Glu840*		9134297	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Nonsense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.879375|1.879375	0.33162|0.33162	.|.	.|.	ENSG00000175899|ENSG00000175899	ENST00000318602;ENST00000540099|ENST00000543436	.|.	.|.	.|.	5.23|5.23	3.33|3.33	0.38152|0.38152	.|.	0.453502|.	0.20600|.	N|.	0.089169|.	.|T	.|0.43743	.|0.1261	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52132	.|-0.8616	.|3	0.07644|.	T|.	0.81|.	.|.	7.6277|7.6277	0.28222|0.28222	0.0:0.7224:0.0:0.2776|0.0:0.7224:0.0:0.2776	.|.	.|.	.|.	.|.	X|C	840;855|87	.|.	ENSP00000323929:E840X|.	E|W	-|-	1|3	0|0	A2M|A2M	9134297|9134297	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.054000|0.054000	0.15201|0.15201	0.683000|0.683000	0.25349|0.25349	0.642000|0.642000	0.30620|0.30620	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
PZP	5858	broad.mit.edu	37	12	9305864	9305864	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9305864C>T	ENST00000261336.2	-	30	3878	c.3850G>A	c.(3850-3852)Gtc>Atc	p.V1284I	PZP_ENST00000381997.2_Missense_Mutation_p.V1070I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1284					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1284I(1)|p.V1070I(1)|p.V1070F(1)|p.V1284F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAACGGTGACCTGTGCAGTT	0.507																																					p.V1284I	Melanoma(125;1402 1695 4685 34487 38571)											.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G3850A	12						.						107.0	108.0	108.0					12																	9305864		2203	4300	6503	9197131	SO:0001583	missense	5858	exon30			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3850G>A	12.37:g.9305864C>T	ENSP00000261336:p.Val1284Ile		9197131	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827486	0.71143	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.43294	1.05;0.95	3.92	3.92	0.45320	.	0.351376	0.22503	U	0.059214	T	0.68467	0.3004	M	0.87900	2.915	0.37903	D	0.931099	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.972	T	0.77354	-0.2619	10	0.51188	T	0.08	.	16.3675	0.83338	0.0:1.0:0.0:0.0	.	1070;1284	P20742-2;P20742	.;PZP_HUMAN	I	1284;1070	ENSP00000261336:V1284I;ENSP00000371427:V1070I	ENSP00000261336:V1284I	V	-	1	0	PZP	9197131	0.002000	0.14202	0.024000	0.17045	0.002000	0.02628	0.986000	0.29590	2.135000	0.66039	0.557000	0.71058	GTC		0.507	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9318677	9318677	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9318677C>A	ENST00000261336.2	-	18	2257	c.2229G>T	c.(2227-2229)gaG>gaT	p.E743D	PZP_ENST00000381997.2_Missense_Mutation_p.E612D|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	743					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E743D(1)|p.E612D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGATCCAAGTCTCAGGAAAAT	0.428																																					p.E743D	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2229T	12						.						151.0	142.0	145.0					12																	9318677		2203	4300	6503	9209944	SO:0001583	missense	5858	exon18			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2229G>T	12.37:g.9318677C>A	ENSP00000261336:p.Glu743Asp		9209944	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722294	0.48728	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.54675	0.78;0.56	3.58	1.7	0.24286	.	0.000000	0.64402	U	0.000015	T	0.53384	0.1793	L	0.29908	0.895	0.22096	N	0.999369	D;D;D	0.76494	0.999;0.985;0.999	D;P;D	0.70227	0.968;0.882;0.968	T	0.34279	-0.9835	10	0.62326	D	0.03	.	6.5173	0.22254	0.0:0.7552:0.0:0.2448	.	743;612;743	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	D	743;612	ENSP00000261336:E743D;ENSP00000371427:E612D	ENSP00000261336:E743D	E	-	3	2	PZP	9209944	0.972000	0.33761	1.000000	0.80357	0.661000	0.39034	0.087000	0.14958	0.798000	0.33994	0.467000	0.42956	GAG		0.428	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9346787	9346787	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9346787G>T	ENST00000261336.2	-	11	1168	c.1140C>A	c.(1138-1140)ttC>ttA	p.F380L	PZP_ENST00000381997.2_Missense_Mutation_p.F249L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	380					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F249L(1)|p.F380L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAGAGATGAAGAAGAGTTTAT	0.423																																					p.F380L	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1140A	12						.						179.0	166.0	171.0					12																	9346787		2203	4300	6503	9238054	SO:0001583	missense	5858	exon11			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1140C>A	12.37:g.9346787G>T	ENSP00000261336:p.Phe380Leu		9238054	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132971	0.37630	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.30714	1.72;1.52	3.53	2.63	0.31362	.	0.322334	0.20700	U	0.087284	T	0.09158	0.0226	N	0.00841	-1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24941	-1.0146	10	0.34782	T	0.22	.	7.4433	0.27196	0.1312:0.0:0.8688:0.0	.	249;380	P20742-2;P20742	.;PZP_HUMAN	L	380;249	ENSP00000261336:F380L;ENSP00000371427:F249L	ENSP00000261336:F380L	F	-	3	2	PZP	9238054	0.001000	0.12720	0.121000	0.21740	0.443000	0.32047	-0.209000	0.09358	0.788000	0.33755	0.557000	0.71058	TTC		0.423	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
PZP	5858	broad.mit.edu	37	12	9353924	9353924	+	Splice_Site	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9353924T>G	ENST00000261336.2	-	5	528	c.500A>C	c.(499-501)gAg>gCg	p.E167A	PZP_ENST00000381997.2_Splice_Site_p.E36A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	167					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E36A(1)|p.E167A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATACTTACCTCAAGGTATAT	0.318																																					p.E167A	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A500C	12						.						50.0	53.0	52.0					12																	9353924		2203	4294	6497	9245191	SO:0001630	splice_region_variant	5858	exon5			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.501+1A>C	12.37:g.9353924T>G			9245191	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389302	0.42410	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.74209	-0.82;-0.82	2.19	2.19	0.27852	Alpha-2-macroglobulin, N-terminal (1);	0.352956	0.20219	U	0.096738	T	0.79155	0.4398	M	0.82517	2.595	0.23198	N	0.998137	P;P	0.48911	0.917;0.873	P;P	0.51945	0.62;0.685	T	0.69859	-0.5031	10	0.72032	D	0.01	.	6.3433	0.21335	0.0:0.0:0.0:1.0	.	36;167	P20742-2;P20742	.;PZP_HUMAN	A	167;36	ENSP00000261336:E167A;ENSP00000371427:E36A	ENSP00000261336:E167A	E	-	2	0	PZP	9245191	1.000000	0.71417	0.984000	0.44739	0.054000	0.15201	2.923000	0.48868	1.271000	0.44313	0.460000	0.39030	GAG		0.318	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	Missense_Mutation
KLRB1	3820	broad.mit.edu	37	12	9747911	9747911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9747911C>A	ENST00000229402.3	-	6	683	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	213					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.E213*(1)		endometrium(2)|large_intestine(6)|lung(4)	12						GGTGTTAGTTCTTTTTGGCAG	0.378																																					p.E213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G637T	12						.						174.0	157.0	163.0					12																	9747911		2203	4300	6503	9639178	SO:0001587	stop_gained	3820	exon6			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.637G>T	12.37:g.9747911C>A	ENSP00000229402:p.Glu213*		9639178	NM_002258	Q24K24	Nonsense_Mutation	SNP	ENST00000229402.3	37	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	.	12.94	2.089361	0.36855	.	.	ENSG00000111796	ENST00000229402	.	.	.	3.11	1.22	0.21188	.	0.423542	0.17374	N	0.176559	.	.	.	.	.	.	0.40040	D	0.975648	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.104	4.4567	0.11647	0.0:0.6358:0.232:0.1323	.	.	.	.	X	213	.	ENSP00000229402:E213X	E	-	1	0	KLRB1	9639178	0.889000	0.30405	0.551000	0.28230	0.023000	0.10783	0.156000	0.16382	0.335000	0.23614	-0.300000	0.09419	GAA		0.378	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258	
KLRB1	3820	broad.mit.edu	37	12	9760354	9760354	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9760354G>A	ENST00000229402.3	-	1	128	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	28					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R28W(1)		endometrium(2)|large_intestine(6)|lung(4)	12						CACTTACCCCGAGGAAGAGAT	0.413																																					p.R28W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	12						.						160.0	135.0	143.0					12																	9760354		2203	4300	6503	9651621	SO:0001583	missense	3820	exon1			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.82C>T	12.37:g.9760354G>A	ENSP00000229402:p.Arg28Trp		9651621	NM_002258	Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446558	0.63178	.	.	ENSG00000111796	ENST00000229402	T	0.29917	1.55	2.89	1.0	0.19881	.	1.643360	0.04072	N	0.308271	T	0.25901	0.0631	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.53988	0.739	T	0.16541	-1.0399	10	0.66056	D	0.02	.	4.1234	0.10116	0.1401:0.2435:0.6164:0.0	.	28	Q12918	KLRB1_HUMAN	W	28	ENSP00000229402:R28W	ENSP00000229402:R28W	R	-	1	2	KLRB1	9651621	0.997000	0.39634	0.091000	0.20842	0.745000	0.42441	2.282000	0.43461	0.262000	0.21774	0.591000	0.81541	CGG		0.413	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258	
KLRF1	51348	broad.mit.edu	37	12	9984941	9984941	+	Missense_Mutation	SNP	A	A	C	rs373947558		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:9984941A>C	ENST00000279544.3	+	2	179	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	KLRF1_ENST00000354855.3_Missense_Mutation_p.I39L|KLRF1_ENST00000324214.4_Missense_Mutation_p.I39L|KLRF1_ENST00000537723.1_Missense_Mutation_p.I39L	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	39					cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)	p.I39L(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTGGTATAAAATCTTACTGGG	0.323																																					p.I39L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A115C	12						.						138.0	130.0	132.0					12																	9984941		1819	4083	5902	9876208	SO:0001583	missense	51348	exon2			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.115A>C	12.37:g.9984941A>C	ENSP00000279544:p.Ile39Leu		9876208	NM_016523	Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	A	6.338	0.430468	0.12045	.	.	ENSG00000150045	ENST00000354855;ENST00000324214;ENST00000279544;ENST00000537723	T;T;T	0.53423	4.72;5.04;0.62	2.92	0.501	0.16925	.	.	.	.	.	T	0.27027	0.0662	L	0.27053	0.805	0.09310	N	1	B;B;B	0.32101	0.062;0.356;0.057	B;B;B	0.26614	0.015;0.071;0.023	T	0.12734	-1.0536	8	.	.	.	.	4.822	0.13396	0.7187:0.0:0.2813:0.0	.	39;39;39	Q9NZS2;Q4KN30;Q9NZS2-2	KLRF1_HUMAN;.;.	L	39	ENSP00000322487:I39L;ENSP00000279544:I39L;ENSP00000443054:I39L	.	I	+	1	0	KLRF1	9876208	0.755000	0.28372	0.092000	0.20876	0.194000	0.23727	0.930000	0.28858	0.101000	0.17610	0.528000	0.53228	ATC		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523	
GRIN2B	2904	broad.mit.edu	37	12	13715728	13715728	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:13715728A>T	ENST00000609686.1	-	13	4653	c.4444T>A	c.(4444-4446)Tct>Act	p.S1482T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1482					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1482T(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGACATCAGACTCAATACTA	0.532																																					p.S1482T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4444A	12						.						133.0	133.0	133.0					12																	13715728		2203	4300	6503	13606995	SO:0001583	missense	2904	exon13				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4444T>A	12.37:g.13715728A>T	ENSP00000477455:p.Ser1482Thr		13606995	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474182	0.63737	.	.	ENSG00000150086	ENST00000279593	T	0.28895	1.59	5.02	5.02	0.67125	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53718	-0.8399	10	0.87932	D	0	.	14.9146	0.70785	1.0:0.0:0.0:0.0	.	1482	Q13224	NMDE2_HUMAN	T	1482	ENSP00000279593:S1482T	ENSP00000279593:S1482T	S	-	1	0	GRIN2B	13606995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.108000	0.64289	0.533000	0.62120	TCT		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GRIN2B	2904	broad.mit.edu	37	12	14019007	14019007	+	Missense_Mutation	SNP	C	C	T	rs370809599		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14019007C>T	ENST00000609686.1	-	2	345	c.136G>A	c.(136-138)Gac>Aac	p.D46N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	46					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D46N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCACCTCGTCGGAAGTGCCC	0.587																																					p.D46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	12						.	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	90.0	85.0	87.0		136	5.7	1.0	12		87	0,8600		0,0,4300	no	missense	GRIN2B	NM_000834.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	46/1485	14019007	1,13005	2203	4300	6503	13910274	SO:0001583	missense	2904	exon2				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.136G>A	12.37:g.14019007C>T	ENSP00000477455:p.Asp46Asn		13910274	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469691	0.26423	2.27E-4	0.0	ENSG00000150086	ENST00000279593	T	0.11063	2.81	5.69	5.69	0.88448	.	0.102768	0.64402	D	0.000003	T	0.06735	0.0172	N	0.08118	0	0.36504	D	0.869188	B	0.12013	0.005	B	0.01281	0.0	T	0.29518	-1.0009	10	0.08599	T	0.76	.	19.8218	0.96599	0.0:1.0:0.0:0.0	.	46	Q13224	NMDE2_HUMAN	N	46	ENSP00000279593:D46N	ENSP00000279593:D46N	D	-	1	0	GRIN2B	13910274	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	3.837000	0.55820	2.676000	0.91093	0.557000	0.71058	GAC		0.587	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
ATF7IP	55729	broad.mit.edu	37	12	14589105	14589105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14589105C>T	ENST00000540793.1	+	3	1866	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.R570*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.R571*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.R570*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.R579*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	571	Glu-rich.|Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.R571*(2)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAAACGTCGTCGATATATGGA	0.358																																					p.R571X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1711T	12						.						120.0	121.0	120.0					12																	14589105		2203	4300	6503	14480372	SO:0001587	stop_gained	55729	exon4			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1711C>T	12.37:g.14589105C>T	ENSP00000444589:p.Arg571*		14480372	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	39	7.746878	0.98468	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.48	4.57	0.56435	.	0.000000	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5873	15.4187	0.74995	0.1404:0.8596:0.0:0.0	.	.	.	.	X	571;10;570;570;579;571	.	ENSP00000261168:R571X	R	+	1	2	ATF7IP	14480372	1.000000	0.71417	0.974000	0.42286	0.989000	0.77384	3.412000	0.52679	1.401000	0.46761	0.585000	0.79938	CGA		0.358	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
ATF7IP	55729	broad.mit.edu	37	12	14631268	14631268	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14631268C>A	ENST00000540793.1	+	11	3114	c.2959C>A	c.(2959-2961)Cac>Aac	p.H987N	ATF7IP_ENST00000543189.1_Missense_Mutation_p.H986N|ATF7IP_ENST00000261168.4_Missense_Mutation_p.H987N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.H986N|ATF7IP_ENST00000544627.1_Missense_Mutation_p.H995N			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	987					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.H987N(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAAACTAAATCACACTCCTGT	0.403																																					p.H987N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2959A	12						.						135.0	130.0	132.0					12																	14631268		2203	4300	6503	14522535	SO:0001583	missense	55729	exon12			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2959C>A	12.37:g.14631268C>A	ENSP00000444589:p.His987Asn		14522535	NM_018179	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188797	0.21954	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.28	5.28	0.74379	.	0.447046	0.20993	N	0.081987	T	0.15955	0.0384	L	0.40543	1.245	0.09310	N	1	B;B;P	0.45827	0.257;0.257;0.867	B;B;B	0.41510	0.098;0.098;0.359	T	0.16928	-1.0386	10	0.22706	T	0.39	-5.1952	14.1632	0.65459	0.1498:0.8502:0.0:0.0	.	986;987;986	G3V1U0;Q6VMQ6;Q6VMQ6-2	.;MCAF1_HUMAN;.	N	987;986;986;995;987	ENSP00000261168:H987N;ENSP00000443179:H986N;ENSP00000445955:H986N;ENSP00000440440:H995N;ENSP00000444589:H987N	ENSP00000261168:H987N	H	+	1	0	ATF7IP	14522535	0.448000	0.25681	0.028000	0.17463	0.805000	0.45488	3.348000	0.52209	2.629000	0.89072	0.650000	0.86243	CAC		0.403	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
PLBD1	79887	broad.mit.edu	37	12	14706146	14706146	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14706146C>T	ENST00000240617.5	-	2	968	c.316G>A	c.(316-318)Gag>Aag	p.E106K	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	106					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.E106K(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGTAACCCTCCAAAAAGCCA	0.537																																					p.E106K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	12						.						76.0	67.0	70.0					12																	14706146		2203	4300	6503	14597413	SO:0001583	missense	79887	exon2			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.316G>A	12.37:g.14706146C>T	ENSP00000240617:p.Glu106Lys		14597413	NM_024829	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	35	5.517151	0.96416	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.23348	1.91;1.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76495	-0.2938	10	0.87932	D	0	-30.6198	19.0599	0.93085	0.0:1.0:0.0:0.0	.	106	Q6P4A8	PLBL1_HUMAN	K	106;59	ENSP00000240617:E106K;ENSP00000438367:E59K	ENSP00000240617:E106K	E	-	1	0	PLBD1	14597413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.736000	0.74811	2.941000	0.99782	0.655000	0.94253	GAG		0.537	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829	
SMCO3	440087	broad.mit.edu	37	12	14959262	14959262	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14959262G>A	ENST00000316048.2	-	2	425	c.353C>T	c.(352-354)tCg>tTg	p.S118L	WBP11_ENST00000261167.2_5'Flank|C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	118						integral component of membrane (GO:0016021)		p.S118L(1)									CAGGATGACCGAAATAACCTT	0.413																																					p.S118L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	12						.						135.0	127.0	130.0					12																	14959262		1938	4145	6083	14850529	SO:0001583	missense	440087	exon2				CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.353C>T	12.37:g.14959262G>A	ENSP00000381895:p.Ser118Leu		14850529	NM_001013698	Q8NAI5	Missense_Mutation	SNP	ENST00000316048.2	37	CCDS41759.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537371	0.65085	.	.	ENSG00000179256	ENST00000316048	T	0.18338	2.22	5.04	5.04	0.67666	.	0.000000	0.35096	U	0.003455	T	0.27663	0.0680	N	0.24115	0.695	0.35737	D	0.818369	D	0.71674	0.998	D	0.75484	0.986	T	0.24657	-1.0154	10	0.87932	D	0	-9.9982	13.7537	0.62923	0.0:0.0:1.0:0.0	.	118	A2RU48	CL069_HUMAN	L	118	ENSP00000381895:S118L	ENSP00000381895:S118L	S	-	2	0	C12orf69	14850529	1.000000	0.71417	0.945000	0.38365	0.621000	0.37620	4.691000	0.61738	2.611000	0.88343	0.561000	0.74099	TCG		0.413	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698	
ART4	420	broad.mit.edu	37	12	14993621	14993621	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:14993621A>C	ENST00000228936.4	-	2	992	c.611T>G	c.(610-612)tTt>tGt	p.F204C	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	204					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.F204C(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GAATTGGCCAAATCGAATGGT	0.493																																					p.F204C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T611G	12						.						105.0	103.0	104.0					12																	14993621		2203	4300	6503	14884888	SO:0001583	missense	420	exon2			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.611T>G	12.37:g.14993621A>C	ENSP00000228936:p.Phe204Cys		14884888	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452117	0.63290	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.10288	2.89;2.89	4.35	4.35	0.52113	.	0.107302	0.64402	D	0.000004	T	0.41581	0.1165	M	0.93328	3.405	0.44956	D	0.997977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53823	-0.8384	10	0.87932	D	0	0.0497	12.1614	0.54105	1.0:0.0:0.0:0.0	.	204;204	A8K6J7;Q93070	.;NAR4_HUMAN	C	204;187	ENSP00000228936:F204C;ENSP00000405689:F187C	ENSP00000228936:F204C	F	-	2	0	ART4	14884888	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.846000	0.75399	2.193000	0.70182	0.460000	0.39030	TTT		0.493	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
EPS8	2059	broad.mit.edu	37	12	15822654	15822654	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:15822654C>A	ENST00000281172.5	-	5	746	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	EPS8_ENST00000543612.1_Missense_Mutation_p.D104Y|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.D104Y	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	104	PH; first part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.D104Y(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGAATCATATCTTGAGTCCAC	0.373																																					p.D104Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310T	12						.						123.0	107.0	112.0					12																	15822654		2203	4300	6503	15713921	SO:0001583	missense	2059	exon5			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.310G>T	12.37:g.15822654C>A	ENSP00000281172:p.Asp104Tyr		15713921	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393714	0.83011	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.08	5.08	0.68730	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.051712	0.85682	D	0.000000	T	0.67822	0.2934	M	0.65975	2.015	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	T	0.71224	-0.4656	10	0.87932	D	0	-22.2539	18.8402	0.92180	0.0:1.0:0.0:0.0	.	104	Q12929	EPS8_HUMAN	Y	104	ENSP00000441867:D104Y;ENSP00000281172:D104Y;ENSP00000442388:D104Y;ENSP00000445235:D104Y;ENSP00000440591:D104Y	ENSP00000281172:D104Y	D	-	1	0	EPS8	15713921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.771000	0.85420	2.528000	0.85240	0.650000	0.86243	GAT		0.373	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
DERA	51071	broad.mit.edu	37	12	16189274	16189275	+	Nonsense_Mutation	DNP	CG	CG	TA	rs376413295		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:16189274_16189275CG>TA	ENST00000428559.2	+	8	1071_1072	c.859_860CG>TA	c.(859-861)CGa>TAa	p.R287*	DERA_ENST00000526530.1_Nonsense_Mutation_p.R199*|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Nonsense_Mutation_p.R244*	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	287					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)	p.R287>?(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AGAACTCTTTCGAATAGGTGCC	0.455																																					.												.	.	1	Complex(1)	large_intestine(1)	c.859_860TA	12						.																																			16080542	SO:0001587	stop_gained	51071	exon8			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	Exception_encountered	12.37:g.16189274_16189275delinsTA	ENSP00000416583:p.Arg287*		16080541	NM_015954	Q53HN9|Q6PHW2	Nonsense_Mutation	DNP	ENST00000428559.2	37	CCDS44838.1																																																																																				0.455	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954	
LMO3	55885	broad.mit.edu	37	12	16704219	16704219	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:16704219G>A	ENST00000320122.6	-	4	897	c.375C>T	c.(373-375)atC>atT	p.I125I	LMO3_ENST00000540445.1_Silent_p.I147I|LMO3_ENST00000447609.1_Silent_p.I125I|LMO3_ENST00000534946.1_Silent_p.I125I|LMO3_ENST00000441439.2_Silent_p.I125I|LMO3_ENST00000540848.1_Silent_p.I125I|LMO3_ENST00000354662.1_Silent_p.I125I|LMO3_ENST00000541295.1_Silent_p.I143I|LMO3_ENST00000537304.1_Silent_p.I125I|LMO3_ENST00000261169.6_Silent_p.I136I|LMO3_ENST00000535535.1_Silent_p.I125I|LMO3_ENST00000541846.1_Silent_p.I125I	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	125	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)	p.I125I(1)		endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TCTGGCAAAGGATCATGTTAT	0.353																																					p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	12						.						148.0	137.0	141.0					12																	16704219		2203	4300	6503	16595486	SO:0001819	synonymous_variant	55885	exon4			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.375C>T	12.37:g.16704219G>A			16595486	NM_001001395	B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Silent	SNP	ENST00000320122.6	37	CCDS8678.1																																																																																				0.353	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640	
PIK3C2G	5288	broad.mit.edu	37	12	18435102	18435102	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:18435102A>G	ENST00000266497.5	+	1	125	c.87A>G	c.(85-87)caA>caG	p.Q29Q	PIK3C2G_ENST00000433979.1_Silent_p.Q29Q|PIK3C2G_ENST00000538779.1_Silent_p.Q29Q|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Silent_p.Q29Q			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	29					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.Q29Q(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTGTAAATCAACCCCATTCTT	0.368																																					p.Q29Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A87G	12						.						64.0	61.0	62.0					12																	18435102		1867	4106	5973	18326369	SO:0001819	synonymous_variant	5288	exon2			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.87A>G	12.37:g.18435102A>G			18326369	NM_004570	A1L3U0	Silent	SNP	ENST00000266497.5	37	CCDS44839.1																																																																																				0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PIK3C2G	5288	broad.mit.edu	37	12	18443905	18443905	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:18443905T>G	ENST00000266497.5	+	3	916	c.878T>G	c.(877-879)tTt>tGt	p.F293C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.F293C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.F293C|PIK3C2G_ENST00000536967.1_3'UTR|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.F293C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	293	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.F293C(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATACATATTTTTATTGATAAC	0.368																																					p.F293C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T878G	12						.						49.0	47.0	47.0					12																	18443905		1813	4076	5889	18335172	SO:0001583	missense	5288	exon4			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.878T>G	12.37:g.18443905T>G	ENSP00000266497:p.Phe293Cys		18335172	NM_004570	A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	6.178	0.400974	0.11696	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.07	-0.175	0.13315	Phosphoinositide 3-kinase, ras-binding (2);	2.486070	0.01200	N	0.007559	T	0.28599	0.0708	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.002	T	0.12477	-1.0546	10	0.38643	T	0.18	-1.3011	3.5529	0.07853	0.0:0.3073:0.2277:0.465	.	292;293;293	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	293	ENSP00000443850:F293C;ENSP00000404845:F293C;ENSP00000266497:F293C;ENSP00000445381:F293C	ENSP00000266497:F293C	F	+	2	0	PIK3C2G	18335172	0.507000	0.26146	0.013000	0.15412	0.008000	0.06430	0.366000	0.20365	-0.017000	0.14103	0.524000	0.50904	TTT		0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PLCZ1	89869	broad.mit.edu	37	12	18852769	18852769	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:18852769G>T	ENST00000538330.1	-	6	860	c.479C>A	c.(478-480)tCt>tAt	p.S160Y	PLCZ1_ENST00000541695.1_Missense_Mutation_p.S241Y|PLCZ1_ENST00000266505.7_Missense_Mutation_p.S378Y|PLCZ1_ENST00000539875.1_Missense_Mutation_p.S185Y|PLCZ1_ENST00000435379.1_Missense_Mutation_p.S183Y|PLCZ1_ENST00000447925.2_Missense_Mutation_p.S376Y|PLCZ1_ENST00000542762.1_5'UTR					phospholipase C, zeta 1									p.S378Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CTCCCCAATAGAATTATTTTC	0.328																																					p.S378Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1133A	12						.						44.0	49.0	47.0					12																	18852769		2202	4295	6497	18744036	SO:0001583	missense	89869	exon10			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.479C>A	12.37:g.18852769G>T	ENSP00000445880:p.Ser160Tyr		18744036	NM_033123		Missense_Mutation	SNP	ENST00000538330.1	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.280378	0.80692	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;0.05	5.88	5.88	0.94601	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	H	0.98351	4.21	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95215	0.8329	10	0.87932	D	0	.	16.9709	0.86298	0.0:0.0:1.0:0.0	.	378;160	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	Y	160;378;376;183;241;185;113;119	ENSP00000445880:S160Y;ENSP00000266505:S378Y;ENSP00000402358:S376Y;ENSP00000400504:S183Y;ENSP00000443349:S241Y;ENSP00000445026:S185Y;ENSP00000445889:S113Y;ENSP00000443762:S119Y	ENSP00000266505:S378Y	S	-	2	0	PLCZ1	18744036	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	6.980000	0.76160	2.779000	0.95612	0.650000	0.86243	TCT		0.328	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123	
CAPZA3	93661	broad.mit.edu	37	12	18891302	18891302	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:18891302C>A	ENST00000317658.3	+	1	258	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	34					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L34I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTTTGATGATCTCTGTCTGCT	0.468																																					p.L34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100A	12						.						108.0	101.0	103.0					12																	18891302		2203	4299	6502	18782569	SO:0001583	missense	93661	exon1			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.100C>A	12.37:g.18891302C>A	ENSP00000326238:p.Leu34Ile		18782569	NM_033328	Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534818	0.64972	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.085593	0.48286	D	0.000200	T	0.65217	0.2670	L	0.31664	0.95	0.38538	D	0.949152	D	0.69078	0.997	D	0.85130	0.997	T	0.69232	-0.5199	9	0.54805	T	0.06	-5.9873	14.7244	0.69332	0.0:1.0:0.0:0.0	.	34	Q96KX2	CAZA3_HUMAN	I	34	.	ENSP00000326238:L34I	L	+	1	0	CAPZA3	18782569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.062000	0.49971	2.498000	0.84270	0.563000	0.77884	CTC		0.468	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328	
SLCO1C1	53919	broad.mit.edu	37	12	20852529	20852529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:20852529G>T	ENST00000266509.2	+	2	387	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000381552.1_Nonsense_Mutation_p.E7*|SLCO1C1_ENST00000545604.1_Nonsense_Mutation_p.E7*|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.E7*	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	7					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E7*(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTCATCCAAAGAAAATATCCA	0.333																																					p.E7X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G19T	12						.						59.0	59.0	59.0					12																	20852529		2203	4299	6502	20743796	SO:0001587	stop_gained	53919	exon2			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.19G>T	12.37:g.20852529G>T	ENSP00000266509:p.Glu7*		20743796	NM_017435	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Nonsense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059751	0.97246	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	.	.	.	4.86	3.97	0.46021	.	1.245850	0.05226	N	0.509429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	11.3881	0.49798	0.0835:0.0:0.9165:0.0	.	.	.	.	X	7	.	ENSP00000266509:E7X	E	+	1	0	SLCO1C1	20743796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.111000	0.50360	1.285000	0.44548	0.655000	0.94253	GAA		0.333	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	
SLCO1B3	28234	broad.mit.edu	37	12	21015486	21015486	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21015486T>C	ENST00000381545.3	+	7	841	c.622T>C	c.(622-624)Tat>Cat	p.Y208H	LST3_ENST00000540229.1_Missense_Mutation_p.Y208H|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.Y208H|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.Y208H|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	208					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.Y208H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCTTCCTTGTATTTAGGTAA	0.338																																					p.Y208H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T622C	12						.						94.0	93.0	93.0					12																	21015486		2203	4300	6503	20906753	SO:0001583	missense	28234	exon6				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.622T>C	12.37:g.21015486T>C	ENSP00000370956:p.Tyr208His		20906753	NM_019844	E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.642557	0.29246	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	3.9	2.68	0.31781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.188484	0.48286	N	0.000198	T	0.63402	0.2508	M	0.86097	2.795	0.29923	N	0.822574	P;P;P	0.51933	0.864;0.949;0.949	P;P;P	0.60415	0.663;0.874;0.874	T	0.62058	-0.6934	10	0.52906	T	0.07	.	7.059	0.25115	0.0:0.1872:0.0:0.8128	.	208;208;208	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	H	208;208;208;208;32;208	ENSP00000442000:Y208H;ENSP00000261196:Y208H;ENSP00000370956:Y208H;ENSP00000451758:Y208H;ENSP00000443225:Y32H;ENSP00000441269:Y208H	ENSP00000441269:Y208H	Y	+	1	0	SLCO1B3;RP11-545J16.1	20906753	1.000000	0.71417	0.012000	0.15200	0.378000	0.30076	4.746000	0.62133	0.352000	0.24053	0.377000	0.23210	TAT		0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A	rs267603415		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328																																					p.P47P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	12						.						178.0	171.0	173.0					12																	21172237		2203	4299	6502	21063504	SO:0001819	synonymous_variant	338821	exon2			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.141G>A	12.37:g.21172237G>A			21063504	NM_001009562	Q71QF0	Intron	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
SLCO1B1	10599	broad.mit.edu	37	12	21327517	21327517	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21327517T>C	ENST00000256958.2	+	4	329	c.233T>C	c.(232-234)tTg>tCg	p.L78S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	78					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L78S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTAGGAAATTTGCTTGTGATT	0.353																																					p.L78S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T233C	12						.						169.0	150.0	156.0					12																	21327517		2203	4300	6503	21218784	SO:0001583	missense	10599	exon4				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.233T>C	12.37:g.21327517T>C	ENSP00000256958:p.Leu78Ser		21218784	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.399537	0.62177	.	.	ENSG00000134538	ENST00000256958	T	0.45276	0.9	3.66	3.66	0.41972	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.62282	0.2415	M	0.78049	2.395	0.47153	D	0.99933	D	0.76494	0.999	D	0.75484	0.986	T	0.66472	-0.5915	10	0.62326	D	0.03	.	11.3015	0.49309	0.0:0.0:0.0:1.0	.	78	Q9Y6L6	SO1B1_HUMAN	S	78	ENSP00000256958:L78S	ENSP00000256958:L78S	L	+	2	0	SLCO1B1	21218784	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	7.047000	0.76599	1.656000	0.50722	0.254000	0.18369	TTG		0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1B1	10599	broad.mit.edu	37	12	21329726	21329726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21329726G>T	ENST00000256958.2	+	5	472	c.376G>T	c.(376-378)Gaa>Taa	p.E126*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	126					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.E126*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GTATTCTAAAGAAACTAATAT	0.303																																					p.E126X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G376T	12						.						70.0	72.0	71.0					12																	21329726		2198	4285	6483	21220993	SO:0001587	stop_gained	10599	exon5				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.376G>T	12.37:g.21329726G>T	ENSP00000256958:p.Glu126*		21220993	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757409	0.49468	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.52	3.52	0.40303	.	1.140570	0.06248	N	0.691668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	10.71	0.45977	0.0:0.0:1.0:0.0	.	.	.	.	X	126	.	ENSP00000256958:E126X	E	+	1	0	SLCO1B1	21220993	0.909000	0.30893	0.763000	0.31416	0.142000	0.21351	3.123000	0.50453	1.955000	0.56771	0.305000	0.20034	GAA		0.303	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1B1	10599	broad.mit.edu	37	12	21331626	21331626	+	Missense_Mutation	SNP	G	G	A	rs540112224		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21331626G>A	ENST00000256958.2	+	6	694	c.598G>A	c.(598-600)Gct>Act	p.A200T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	200					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.A200T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGATGATTTCGCTAAAGAAGG	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		15195	0.0		0.0	False		,,,				2504	0.001				p.A200T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598A	12						.						120.0	111.0	114.0					12																	21331626		2203	4300	6503	21222893	SO:0001583	missense	10599	exon6				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.598G>A	12.37:g.21331626G>A	ENSP00000256958:p.Ala200Thr		21222893	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089140	0.36855	.	.	ENSG00000134538	ENST00000256958	T	0.60171	0.21	3.71	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.242240	0.42053	D	0.000764	T	0.71953	0.3401	M	0.85299	2.745	0.38461	D	0.94722	D	0.67145	0.996	D	0.66497	0.944	T	0.75693	-0.3229	10	0.56958	D	0.05	.	6.1548	0.20332	0.0945:0.0:0.5958:0.3097	.	200	Q9Y6L6	SO1B1_HUMAN	T	200	ENSP00000256958:A200T	ENSP00000256958:A200T	A	+	1	0	SLCO1B1	21222893	1.000000	0.71417	0.991000	0.47740	0.181000	0.23173	1.791000	0.38744	2.065000	0.61736	0.313000	0.20887	GCT		0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
SLCO1B1	10599	broad.mit.edu	37	12	21370160	21370160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21370160C>A	ENST00000256958.2	+	12	1701	c.1605C>A	c.(1603-1605)taC>taA	p.Y535*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	535					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Y535*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GGAAATTTTACTTTTTTGTTG	0.368																																					p.Y535X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1605A	12						.						142.0	144.0	143.0					12																	21370160		2203	4300	6503	21261427	SO:0001587	stop_gained	10599	exon12				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1605C>A	12.37:g.21370160C>A	ENSP00000256958:p.Tyr535*		21261427	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143978	0.77888	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.84	1.23	0.21249	.	0.504913	0.20650	N	0.088222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6646	0.12659	0.0:0.3403:0.0:0.6597	.	.	.	.	X	535	.	ENSP00000256958:Y535X	Y	+	3	2	SLCO1B1	21261427	0.000000	0.05858	0.059000	0.19551	0.013000	0.08279	-0.015000	0.12634	0.572000	0.29383	0.491000	0.48974	TAC		0.368	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
RECQL	5965	broad.mit.edu	37	12	21630862	21630862	+	Missense_Mutation	SNP	C	C	T	rs202110155		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21630862C>T	ENST00000444129.2	-	7	1210	c.742G>A	c.(742-744)Gca>Aca	p.A248T	RECQL_ENST00000421138.2_Missense_Mutation_p.A248T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	248	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A248T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTAGTGATGCGTTAGGGAAC	0.358								Other identified genes with known or suspected DNA repair function					C|||	1	0.000199681	0.0	0.0	5008	,	,		17226	0.001		0.0	False		,,,				2504	0.0				p.A248T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	12						.						94.0	94.0	94.0					12																	21630862		2203	4300	6503	21522129	SO:0001583	missense	5965	exon8			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.742G>A	12.37:g.21630862C>T	ENSP00000416739:p.Ala248Thr		21522129	NM_032941	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	37	CCDS31756.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.419	-0.118657	0.06838	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.76316	-1.01;-1.01	4.8	-1.99	0.07457	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.498949	0.24050	N	0.042011	T	0.47154	0.1430	N	0.02765	-0.5	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35301	-0.9794	10	0.39692	T	0.17	-7.3848	6.1865	0.20500	0.2292:0.4425:0.0:0.3283	.	248	P46063	RECQ1_HUMAN	T	248	ENSP00000416739:A248T;ENSP00000395449:A248T	ENSP00000395449:A248T	A	-	1	0	RECQL	21522129	0.876000	0.30132	0.004000	0.12327	0.001000	0.01503	1.209000	0.32357	-0.425000	0.07371	-1.107000	0.02091	GCA		0.358	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
GYS2	2998	broad.mit.edu	37	12	21712623	21712623	+	Missense_Mutation	SNP	C	C	A	rs368757293		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21712623C>A	ENST00000261195.2	-	9	1445	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	397					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.K397N(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAACTTTTCCTTCACAGAAT	0.294																																					p.K397N	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1191T	12						.						101.0	108.0	106.0					12																	21712623		2202	4294	6496	21603890	SO:0001583	missense	2998	exon9				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1191G>T	12.37:g.21712623C>A	ENSP00000261195:p.Lys397Asn		21603890	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118153	0.56505	.	.	ENSG00000111713	ENST00000261195	T	0.65732	-0.17	5.01	1.12	0.20585	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.40543	1.245	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.64071	-0.6493	10	0.59425	D	0.04	-29.6354	8.9657	0.35874	0.0:0.5473:0.0:0.4527	.	397	P54840	GYS2_HUMAN	N	397	ENSP00000261195:K397N	ENSP00000261195:K397N	K	-	3	2	GYS2	21603890	0.998000	0.40836	0.998000	0.56505	0.923000	0.55619	0.518000	0.22847	0.101000	0.17610	-0.251000	0.11542	AAG		0.294	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
GYS2	2998	broad.mit.edu	37	12	21721869	21721869	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21721869G>A	ENST00000261195.2	-	5	1007	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	251					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.C251C(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACACGTGAGCGCAATGAACGG	0.423																																					p.C251C	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C753T	12						.						173.0	164.0	167.0					12																	21721869		2203	4300	6503	21613136	SO:0001819	synonymous_variant	2998	exon5				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.753C>T	12.37:g.21721869G>A			21613136	NM_021957	A0AVD8	Silent	SNP	ENST00000261195.2	37	CCDS8690.1																																																																																				0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
GYS2	2998	broad.mit.edu	37	12	21728967	21728967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21728967C>A	ENST00000261195.2	-	3	582	c.328G>T	c.(328-330)Gaa>Taa	p.E110*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	110					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.E110*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGACTTCCTTCTATCAGCCAT	0.443																																					p.E110X	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G328T	12						.						105.0	96.0	99.0					12																	21728967		2203	4300	6503	21620234	SO:0001587	stop_gained	2998	exon3				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.328G>T	12.37:g.21728967C>A	ENSP00000261195:p.Glu110*		21620234	NM_021957	A0AVD8	Nonsense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	39	7.416544	0.98272	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.9305	18.9212	0.92526	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000261195:E110X	E	-	1	0	GYS2	21620234	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.265000	0.78442	2.781000	0.95711	0.650000	0.86243	GAA		0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
LDHB	3945	broad.mit.edu	37	12	21791301	21791301	+	Missense_Mutation	SNP	C	C	A	rs375806839		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21791301C>A	ENST00000396076.1	-	6	1031	c.699G>T	c.(697-699)aaG>aaT	p.K233N	LDHB_ENST00000350669.1_Missense_Mutation_p.K233N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	233					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.K233N(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						CAACCACCATCTTATGCACTT	0.373																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	12						.						125.0	122.0	123.0					12																	21791301		2203	4300	6503	21682568	SO:0001583	missense	3945	exon6				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.699G>T	12.37:g.21791301C>A	ENSP00000379386:p.Lys233Asn		21682568	NM_002300		Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364735	0.82463	.	.	ENSG00000111716	ENST00000396076;ENST00000350669	T;T	0.68025	-0.3;-0.3	5.11	4.19	0.49359	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80454	0.4626	M	0.77616	2.38	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.82022	-0.0663	10	0.62326	D	0.03	.	12.6257	0.56628	0.0:0.9159:0.0:0.0841	.	233	P07195	LDHB_HUMAN	N	233	ENSP00000379386:K233N;ENSP00000229319:K233N	ENSP00000229319:K233N	K	-	3	2	LDHB	21682568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.207000	0.42788	1.087000	0.41251	0.655000	0.94253	AAG		0.373	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300	
LDHB	3945	broad.mit.edu	37	12	21794978	21794978	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21794978G>T	ENST00000396076.1	-	5	835	c.503C>A	c.(502-504)tCt>tAt	p.S168Y	LDHB_ENST00000350669.1_Missense_Mutation_p.S168Y	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	168					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)	p.S168Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						AAATCTAGCAGAATCCAGATT	0.423																																					p.S168Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C503A	12						.						110.0	100.0	103.0					12																	21794978		2203	4300	6503	21686245	SO:0001583	missense	3945	exon5				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.503C>A	12.37:g.21794978G>T	ENSP00000379386:p.Ser168Tyr		21686245	NM_002300		Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062905	0.93898	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	T;T;T	0.67698	-0.28;-0.28;-0.28	5.67	5.67	0.87782	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.105298	0.64402	D	0.000002	D	0.90638	0.7064	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94411	0.7632	10	0.87932	D	0	.	19.8346	0.96650	0.0:0.0:1.0:0.0	.	168	P07195	LDHB_HUMAN	Y	168	ENSP00000379386:S168Y;ENSP00000229319:S168Y;ENSP00000379385:S168Y	ENSP00000229319:S168Y	S	-	2	0	LDHB	21686245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.848000	0.99507	2.679000	0.91253	0.644000	0.83932	TCT		0.423	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300	
KCNJ8	3764	broad.mit.edu	37	12	21918737	21918737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21918737G>A	ENST00000240662.2	-	3	1540	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	399					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R399*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TTGTTCCTTCGGATAGAATTG	0.418																																					p.R399X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1195T	12						.						144.0	139.0	140.0					12																	21918737		2203	4300	6503	21810004	SO:0001587	stop_gained	3764	exon3			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1195C>T	12.37:g.21918737G>A	ENSP00000240662:p.Arg399*		21810004	NM_004982	O00657	Nonsense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	37	6.454116	0.97581	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.86	3.84	0.44239	.	0.408001	0.25397	N	0.030967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0294	0.80567	0.0:0.0:0.6537:0.3462	.	.	.	.	X	399	.	ENSP00000240662:R399X	R	-	1	2	KCNJ8	21810004	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.655000	0.37345	1.456000	0.47831	0.655000	0.94253	CGA		0.418	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
KCNJ8	3764	broad.mit.edu	37	12	21918957	21918957	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21918957C>T	ENST00000240662.2	-	3	1320	c.975G>A	c.(973-975)gtG>gtA	p.V325V	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	325					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.V325V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCACAATGGACACAAAGCGGT	0.493																																					p.V325V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G975A	12						.						99.0	91.0	94.0					12																	21918957		2203	4300	6503	21810224	SO:0001819	synonymous_variant	3764	exon3			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.975G>A	12.37:g.21918957C>T			21810224	NM_004982	O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
KCNJ8	3764	broad.mit.edu	37	12	21919461	21919461	+	Silent	SNP	C	C	T	rs143319002	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21919461C>T	ENST00000240662.2	-	3	816	c.471G>A	c.(469-471)acG>acA	p.T157T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	157					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.T157T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GAATCAAAACCGTGATGGCCA	0.438													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21056	0.0		0.0	False		,,,				2504	0.0				p.T157T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G471A	12						.						100.0	88.0	92.0					12																	21919461		2203	4300	6503	21810728	SO:0001819	synonymous_variant	3764	exon3			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.471G>A	12.37:g.21919461C>T			21810728	NM_004982	O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.438	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
KCNJ8	3764	broad.mit.edu	37	12	21926499	21926499	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21926499C>T	ENST00000240662.2	-	2	397	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	18					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.A18T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TTCTCTGCGGCGATGCGCGCC	0.622											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A18T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	12						.						74.0	77.0	76.0					12																	21926499		2203	4299	6502	21817766	SO:0001583	missense	3764	exon2			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.52G>A	12.37:g.21926499C>T	ENSP00000240662:p.Ala18Thr	752	21817766	NM_004982	O00657	Missense_Mutation	SNP	ENST00000240662.2	37	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297749	0.95574	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.92805	-2.52;-3.11	4.88	4.88	0.63580	.	0.270973	0.36200	N	0.002721	D	0.89757	0.6807	L	0.29908	0.895	0.50813	D	0.999894	D	0.62365	0.991	P	0.47075	0.536	D	0.90735	0.4645	10	0.52906	T	0.07	.	18.2172	0.89890	0.0:1.0:0.0:0.0	.	18	Q15842	IRK8_HUMAN	T	18	ENSP00000240662:A18T;ENSP00000440012:A18T	ENSP00000240662:A18T	A	-	1	0	KCNJ8	21817766	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.638000	0.83328	2.531000	0.85337	0.591000	0.81541	GCC		0.622	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
ABCC9	10060	broad.mit.edu	37	12	21953992	21953992	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21953992G>A	ENST00000261200.4	-	38	4635	c.4636C>T	c.(4636-4638)Cgc>Tgc	p.R1546C		NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	0	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1546C(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATGTCTGCGCGAACAAAAGAA	0.383																																					p.R1546C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4636T	12						.						91.0	85.0	87.0					12																	21953992		2203	4300	6503	21845259	SO:0001583	missense	10060	exon38			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261200.4:c.4636C>T	12.37:g.21953992G>A	ENSP00000261200:p.Arg1546Cys		21845259	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261200.4	37	CCDS8693.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905144	0.72868	.	.	ENSG00000069431	ENST00000261200	D	0.90900	-2.75	4.88	4.88	0.63580	.	0.116707	0.56097	D	0.000021	D	0.91479	0.7310	L	0.56396	1.775	0.80722	D	1	D;P	0.58970	0.984;0.952	P;P	0.48795	0.59;0.556	D	0.92624	0.6110	10	0.87932	D	0	-2.9795	18.5784	0.91163	0.0:0.0:1.0:0.0	.	1546;117	O60706-2;Q8N9N1	.;.	C	1546	ENSP00000261200:R1546C	ENSP00000261200:R1546C	R	-	1	0	ABCC9	21845259	0.979000	0.34478	1.000000	0.80357	0.951000	0.60555	3.657000	0.54474	2.695000	0.91970	0.650000	0.86243	CGC		0.383	ABCC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402228.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21960388	21960388	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21960388C>A	ENST00000261201.4	-	36	4340	c.4341G>T	c.(4339-4341)gaG>gaT	p.E1447D	ABCC9_ENST00000345162.2_Missense_Mutation_p.E1411D|ABCC9_ENST00000261200.4_Missense_Mutation_p.E1447D	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1447	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.E1447D(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CGCTAAAATTCTCCCCACCTT	0.413																																					p.E1447D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4341T	12						.						125.0	111.0	116.0					12																	21960388		2203	4300	6503	21851655	SO:0001583	missense	10060	exon36			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4341G>T	12.37:g.21960388C>A	ENSP00000261201:p.Glu1447Asp		21851655	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952851	0.53293	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.02	4.05	0.47172	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.87593	0.6216	N	0.10916	0.065	0.45515	D	0.99847	P;B	0.35107	0.484;0.259	B;B	0.42916	0.402;0.227	D	0.85576	0.1237	10	0.30078	T	0.28	-16.9376	12.84	0.57797	0.0:0.8657:0.0:0.1343	.	1447;1447	O60706;O60706-2	ABCC9_HUMAN;.	D	1447;1074;1447;1411	ENSP00000261200:E1447D;ENSP00000440521:E1074D;ENSP00000261201:E1447D;ENSP00000261202:E1411D	ENSP00000261200:E1447D	E	-	3	2	ABCC9	21851655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.006000	0.40874	2.585000	0.87301	0.561000	0.74099	GAG		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	21962852	21962852	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:21962852T>G	ENST00000261201.4	-	35	4248	c.4249A>C	c.(4249-4251)Aga>Cga	p.R1417R	ABCC9_ENST00000345162.2_Silent_p.R1381R|ABCC9_ENST00000261200.4_Silent_p.R1417R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1417	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.R1417R(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCCCAGAGTCTGTCATCTGTG	0.308																																					p.R1417R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4249C	12						.						89.0	91.0	90.0					12																	21962852		2203	4300	6503	21854119	SO:0001819	synonymous_variant	10060	exon35			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4249A>C	12.37:g.21962852T>G			21854119	NM_020297	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.308	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	22028606	22028606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22028606C>A	ENST00000261201.4	-	15	2073	c.2074G>T	c.(2074-2076)Gat>Tat	p.D692Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.D656Y|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.D692Y	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.D692H(2)|p.D692Y(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATTCGAATATCTATATTGGAT	0.308																																					p.D692Y												.	.	3	Substitution - Missense(3)	urinary_tract(2)|large_intestine(1)	c.G2074T	12						.						77.0	77.0	77.0					12																	22028606		2203	4300	6503	21919873	SO:0001583	missense	10060	exon15			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2074G>T	12.37:g.22028606C>A	ENSP00000261201:p.Asp692Tyr		21919873	NM_020297	O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922576	0.52653	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.55	3.74	0.42951	ABC transporter-like (1);	0.189340	0.56097	D	0.000035	D	0.93416	0.7900	M	0.68593	2.085	0.35187	D	0.773038	P;P	0.48503	0.773;0.911	P;P	0.49953	0.492;0.627	D	0.94638	0.7828	10	0.72032	D	0.01	-12.656	10.5036	0.44821	0.0:0.7832:0.0:0.2168	.	692;692	O60706;O60706-2	ABCC9_HUMAN;.	Y	692;319;692;656	ENSP00000261200:D692Y;ENSP00000440521:D319Y;ENSP00000261201:D692Y;ENSP00000261202:D656Y	ENSP00000261200:D692Y	D	-	1	0	ABCC9	21919873	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	1.238000	0.32707	0.708000	0.31955	0.484000	0.47621	GAT		0.308	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
ABCC9	10060	broad.mit.edu	37	12	22078907	22078907	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22078907G>A	ENST00000261201.4	-	3	374	c.375C>T	c.(373-375)atC>atT	p.I125I	ABCC9_ENST00000345162.2_Silent_p.I125I|ABCC9_ENST00000261200.4_Silent_p.I125I|ABCC9_ENST00000538350.1_Silent_p.I125I|ABCC9_ENST00000326684.4_Silent_p.I125I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	125					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.I125I(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTGATGTTTCGATATTATGAT	0.383																																					p.I125I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C375T	12						.						104.0	103.0	103.0					12																	22078907		2203	4300	6503	21970174	SO:0001819	synonymous_variant	10060	exon3			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.375C>T	12.37:g.22078907G>A			21970174	NM_020297	O60707	Silent	SNP	ENST00000261201.4	37	CCDS8694.1																																																																																				0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
CMAS	55907	broad.mit.edu	37	12	22208151	22208151	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22208151G>A	ENST00000229329.2	+	2	459	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	110					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.R110Q(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGTTCATCGAAGAAGTTCT	0.338																																					p.R110Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G329A	12						.						83.0	80.0	81.0					12																	22208151		2203	4300	6503	22099418	SO:0001583	missense	55907	exon2			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.329G>A	12.37:g.22208151G>A	ENSP00000229329:p.Arg110Gln		22099418	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239638	0.79800	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.080030	0.49305	D	0.000153	T	0.61400	0.2344	M	0.77486	2.375	0.52099	D	0.999946	P	0.50443	0.935	B	0.42163	0.378	T	0.63804	-0.6554	9	0.29301	T	0.29	-16.0592	17.6578	0.88182	0.0:0.0:1.0:0.0	.	110	Q8NFW8	NEUA_HUMAN	Q	110	.	ENSP00000229329:R110Q	R	+	2	0	CMAS	22099418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.000000	0.70678	2.597000	0.87782	0.591000	0.81541	CGA		0.338	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
CMAS	55907	broad.mit.edu	37	12	22214246	22214246	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22214246G>A	ENST00000229329.2	+	6	950	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	274					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.E274K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAAGCTTAAGGAAATAAAACT	0.343																																					p.E274K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820A	12						.						105.0	111.0	109.0					12																	22214246		2203	4300	6503	22105513	SO:0001583	missense	55907	exon6			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.820G>A	12.37:g.22214246G>A	ENSP00000229329:p.Glu274Lys		22105513	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854340	0.32791	.	.	ENSG00000111726	ENST00000229329	T	0.21361	2.01	5.97	5.97	0.96955	HAD-like domain (2);	0.054903	0.64402	D	0.000001	T	0.11750	0.0286	N	0.04959	-0.14	0.50632	D	0.999881	B	0.06786	0.001	B	0.04013	0.001	T	0.16719	-1.0393	10	0.06625	T	0.88	-16.8083	20.4135	0.99023	0.0:0.0:1.0:0.0	.	274	Q8NFW8	NEUA_HUMAN	K	274	ENSP00000229329:E274K	ENSP00000229329:E274K	E	+	1	0	CMAS	22105513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.821000	0.48065	2.835000	0.97688	0.591000	0.81541	GAA		0.343	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
CMAS	55907	broad.mit.edu	37	12	22218082	22218082	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22218082T>C	ENST00000229329.2	+	8	1272	c.1142T>C	c.(1141-1143)tTg>tCg	p.L381S		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	381					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.L381S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAAGAGTGCTTGAAGAGAGTG	0.428																																					p.L381S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1142C	12						.						186.0	192.0	190.0					12																	22218082		2203	4300	6503	22109349	SO:0001583	missense	55907	exon8			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1142T>C	12.37:g.22218082T>C	ENSP00000229329:p.Leu381Ser		22109349	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033576	0.75504	.	.	ENSG00000111726	ENST00000229329	T	0.23147	1.92	5.53	5.53	0.82687	HAD-like domain (2);	0.000000	0.64402	D	0.000001	T	0.57577	0.2063	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66368	-0.5941	10	0.87932	D	0	-7.2675	14.2141	0.65781	0.0:0.0:0.0:1.0	.	381	Q8NFW8	NEUA_HUMAN	S	381	ENSP00000229329:L381S	ENSP00000229329:L381S	L	+	2	0	CMAS	22109349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.085000	0.62840	0.455000	0.32223	TTG		0.428	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
C2CD5	9847	broad.mit.edu	37	12	22643136	22643136	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22643136A>C	ENST00000333957.4	-	12	1534	c.1279T>G	c.(1279-1281)Tta>Gta	p.L427V	C2CD5_ENST00000446597.1_Missense_Mutation_p.L427V|C2CD5_ENST00000396028.2_Missense_Mutation_p.L418V|C2CD5_ENST00000536386.1_Missense_Mutation_p.L429V|C2CD5_ENST00000545552.1_Missense_Mutation_p.L440V|C2CD5_ENST00000542676.1_Missense_Mutation_p.L427V|C2CD5_ENST00000544930.1_Missense_Mutation_p.L242V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	427					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.L427V(1)									GATGCAGATAAAATGCAGACC	0.403																																					p.L427V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1279G	12						.						64.0	63.0	64.0					12																	22643136		2203	4300	6503	22534403	SO:0001583	missense	9847	exon12			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1279T>G	12.37:g.22643136A>C	ENSP00000334229:p.Leu427Val		22534403	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.68|16.68	3.191755|3.191755	0.58017|0.58017	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000535555|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T;T	.|0.80033	.|0.28;0.28;0.28;0.28;0.28;0.28;-1.33	5.58|5.58	3.27|3.27	0.37495|0.37495	.|.	.|0.092352	.|0.44902	.|N	.|0.000409	D|D	0.88518|0.88518	0.6458|0.6458	M|M	0.84773|0.84773	2.715|2.715	0.42668|0.42668	D|D	0.993503|0.993503	.|P;B;B;B;B;D	.|0.76494	.|0.569;0.189;0.104;0.035;0.013;0.999	.|B;B;B;B;B;D	.|0.80764	.|0.251;0.051;0.088;0.05;0.021;0.994	D|D	0.88276|0.88276	0.2933|0.2933	5|10	.|0.87932	.|D	.|0	-6.804|-6.804	8.2032|8.2032	0.31436|0.31436	0.8446:0.0:0.1554:0.0|0.8446:0.0:0.1554:0.0	.|.	.|429;427;242;429;418;427	.|F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.|.;.;.;.;.;K0528_HUMAN	C|V	124|427;427;429;418;427;440;242	.|ENSP00000334229:L427V;ENSP00000388756:L427V;ENSP00000439392:L429V;ENSP00000379345:L418V;ENSP00000441951:L427V;ENSP00000443204:L440V;ENSP00000445288:L242V	.|ENSP00000334229:L427V	F|L	-|-	2|1	0|2	KIAA0528|KIAA0528	22534403|22534403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.768000|2.768000	0.47645|0.47645	0.962000|0.962000	0.38057|0.38057	0.477000|0.477000	0.44152|0.44152	TTT|TTA		0.403	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
C2CD5	9847	broad.mit.edu	37	12	22677465	22677465	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:22677465C>T	ENST00000333957.4	-	6	797	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	C2CD5_ENST00000446597.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000396028.2_Missense_Mutation_p.R181Q|C2CD5_ENST00000536386.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000545552.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000542676.1_Missense_Mutation_p.R181Q|C2CD5_ENST00000544930.1_5'UTR	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	181					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.R181Q(2)									TGTGCGAATTCGATCAATCCA	0.368																																					p.R181Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G542A	12						.						134.0	120.0	125.0					12																	22677465		2203	4300	6503	22568732	SO:0001583	missense	9847	exon6			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.542G>A	12.37:g.22677465C>T	ENSP00000334229:p.Arg181Gln		22568732	NM_014802	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939001	0.92526	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.95	4.02	0.46733	.	0.000000	0.64402	D	0.000001	T	0.48484	0.1502	L	0.48642	1.525	0.80722	D	1	D;P;P;D;P	0.69078	0.963;0.827;0.899;0.997;0.719	B;B;B;P;B	0.53722	0.432;0.119;0.17;0.733;0.119	T	0.51340	-0.8718	10	0.54805	T	0.06	-8.7416	14.6419	0.68732	0.146:0.854:0.0:0.0	.	181;181;181;181;181	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	Q	181	ENSP00000334229:R181Q;ENSP00000388756:R181Q;ENSP00000439392:R181Q;ENSP00000379345:R181Q;ENSP00000441951:R181Q;ENSP00000443204:R181Q	ENSP00000334229:R181Q	R	-	2	0	KIAA0528	22568732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	2.306000	0.77630	0.585000	0.79938	CGA		0.368	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
SOX5	6660	broad.mit.edu	37	12	23716202	23716202	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:23716202C>A	ENST00000451604.2	-	11	1579	c.1478G>T	c.(1477-1479)cGa>cTa	p.R493L	SOX5_ENST00000537393.1_Missense_Mutation_p.R458L|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.R107L|SOX5_ENST00000309359.1_Missense_Mutation_p.R480L|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.R480L|SOX5_ENST00000545921.1_Missense_Mutation_p.R483L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	493					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R493Q(1)|p.R493L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTTTCTGTTCGGCAGTTATT	0.368																																					p.R480L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1439T	12						.						129.0	118.0	122.0					12																	23716202		2203	4300	6503	23607469	SO:0001583	missense	6660	exon14			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1478G>T	12.37:g.23716202C>A	ENSP00000398273:p.Arg493Leu		23607469	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174612	0.78452	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.52905	1.665	0.80722	D	1	P;B;D	0.56287	0.747;0.37;0.975	P;B;P	0.53185	0.567;0.13;0.72	T	0.52343	-0.8588	10	0.36615	T	0.2	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	458;493;107	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	L	480;480;493;445;458;107;483	ENSP00000437487:R480L;ENSP00000308927:R480L;ENSP00000398273:R493L;ENSP00000439832:R458L;ENSP00000379328:R107L;ENSP00000443520:R483L	ENSP00000308927:R480L	R	-	2	0	SOX5	23607469	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.474000	0.81024	2.789000	0.95967	0.591000	0.81541	CGA		0.368	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
CASC1	55259	broad.mit.edu	37	12	25260946	25260946	+	IGR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:25260946C>A	ENST00000320267.9	-	0	2361				LRMP_ENST00000548766.1_Silent_p.I484I|LRMP_ENST00000354454.3_Silent_p.I484I|LRMP_ENST00000547044.1_Silent_p.I484I	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1									p.I484I(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAGAACATATCTTGTGGCCAT	0.463																																					p.I484I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1452A	12						.						110.0	106.0	107.0					12																	25260946		2203	4300	6503	25152213	SO:0001628	intergenic_variant	4033	exon21			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260946C>A			25152213	NM_006152	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1																																																																																				0.463	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25297395	25297395	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:25297395G>A	ENST00000320267.9	-	8	969	c.888C>T	c.(886-888)gtC>gtT	p.V296V	CASC1_ENST00000545133.1_Silent_p.V237V|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Silent_p.V184V|CASC1_ENST00000354189.5_Silent_p.V360V|CASC1_ENST00000395987.3_Silent_p.V302V|CASC1_ENST00000395990.2_Silent_p.V256V	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	296								p.V302V(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACTCTTCTTCGACCTCCTTGC	0.388																																					p.V360V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080T	12						.						218.0	204.0	209.0					12																	25297395		2203	4300	6503	25188662	SO:0001819	synonymous_variant	55259	exon9			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.888C>T	12.37:g.25297395G>A			25188662	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1																																																																																				0.388	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25308325	25308325	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:25308325C>T	ENST00000320267.9	-	4	283	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	CASC1_ENST00000545133.1_Missense_Mutation_p.E9K|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000354189.5_Missense_Mutation_p.E132K|CASC1_ENST00000395987.3_Missense_Mutation_p.E74K|CASC1_ENST00000395990.2_Missense_Mutation_p.E28K	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	68	Glu-rich.							p.E74K(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTTCAAGTTCTTCATTTCTC	0.338																																					p.E132K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	12						.						99.0	101.0	101.0					12																	25308325		2203	4297	6500	25199592	SO:0001583	missense	55259	exon5			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.202G>A	12.37:g.25308325C>T	ENSP00000313141:p.Glu68Lys		25199592	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.274919|4.274919	0.80580|0.80580	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000545133;ENST00000389246;ENST00000554347|ENST00000556006	T;T;T;T;T;T|.	0.28895|.	1.59;1.9;1.9;1.9;1.9;1.97|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71863|0.71863	0.3390|0.3390	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.997;0.994;0.997|.	T|T	0.71431|0.71431	-0.4595|-0.4595	10|5	0.25106|.	T|.	0.35|.	-27.0216|-27.0216	13.345|13.345	0.60566|0.60566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	9;132;68;74|.	F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;CASC1_HUMAN;.|.	K|K	132;74;68;28;74;9;28;28|43	ENSP00000346126:E132K;ENSP00000379310:E74K;ENSP00000313141:E68K;ENSP00000379313:E28K;ENSP00000437373:E9K;ENSP00000451232:E28K|.	ENSP00000313141:E68K|.	E|R	-|-	1|2	0|0	CASC1|CASC1	25199592|25199592	0.997000|0.997000	0.39634|0.39634	0.656000|0.656000	0.29637|0.29637	0.995000|0.995000	0.86356|0.86356	4.035000|4.035000	0.57297|0.57297	2.609000|2.609000	0.88269|0.88269	0.643000|0.643000	0.83706|0.83706	GAA|AGA		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CASC1	55259	broad.mit.edu	37	12	25311443	25311443	+	Missense_Mutation	SNP	C	C	T	rs140615558		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:25311443C>T	ENST00000320267.9	-	3	224	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CASC1_ENST00000545133.1_Intron|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000354189.5_Missense_Mutation_p.R112Q|CASC1_ENST00000395987.3_Missense_Mutation_p.R54Q|CASC1_ENST00000395990.2_Missense_Mutation_p.R8Q	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	48	Glu-rich.							p.R54Q(2)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTTCTCAATTCGCTGTATTTC	0.299																																					p.R112Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G335A	12						.	C	GLN/ARG,GLN/ARG,,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	120.0	122.0		335,143,,23,161	2.2	0.0	12	dbSNP_134	122	0,8598		0,0,4299	no	missense,missense,intron,missense,missense	CASC1	NM_001082972.1,NM_001082973.1,NM_001204101.1,NM_001204102.1,NM_018272.3	43,43,,43,43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,,possibly-damaging,possibly-damaging	112/691,48/717,,8/677,54/723	25311443	1,13003	2203	4299	6502	25202710	SO:0001583	missense	55259	exon4			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.143G>A	12.37:g.25311443C>T	ENSP00000313141:p.Arg48Gln		25202710	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005716	0.19199	2.27E-4	0.0	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000389246;ENST00000554347	T;T;T;T;T	0.53640	2.19;1.33;1.32;0.61;2.13	5.42	2.15	0.27550	.	0.324209	0.26967	N	0.021590	T	0.30603	0.0770	L	0.40543	1.245	0.21897	N	0.99948	P;B;B	0.34615	0.459;0.056;0.179	B;B;B	0.23018	0.024;0.006;0.043	T	0.12785	-1.0534	10	0.39692	T	0.17	-9.9041	8.0894	0.30793	0.0:0.7029:0.0:0.2971	.	112;48;54	Q6TDU7-3;Q6TDU7;F8W8F9	.;CASC1_HUMAN;.	Q	112;54;48;8;54;8;8	ENSP00000346126:R112Q;ENSP00000379310:R54Q;ENSP00000313141:R48Q;ENSP00000379313:R8Q;ENSP00000451232:R8Q	ENSP00000313141:R48Q	R	-	2	0	CASC1	25202710	0.833000	0.29383	0.013000	0.15412	0.751000	0.42716	1.928000	0.40104	0.659000	0.30945	0.573000	0.79308	CGA		0.299	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
SSPN	8082	broad.mit.edu	37	12	26383754	26383754	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26383754C>T	ENST00000242729.2	+	3	654	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000540625.1_RNA|SSPN_ENST00000540266.1_Silent_p.L56L|RP11-283G6.5_ENST00000541940.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000422622.2_Silent_p.L56L|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	159					cell adhesion (GO:0007155)|muscle contraction (GO:0006936)	cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)		p.L159L(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					AGACCACACTCGACTCTTGCC	0.587																																					p.L56L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	12						.						125.0	109.0	115.0					12																	26383754		2203	4300	6503	26275021	SO:0001819	synonymous_variant	8082	exon3			AF016028	CCDS8707.1, CCDS44850.1	12p11.2	2014-09-17	2012-03-14			ENSG00000123096			11322	protein-coding gene	gene with protein product		601599	"""Kras oncogene-associated gene"""	KRAG		9395445, 8661122	Standard	NM_005086		Approved	SPN1, SPN2	uc001rhe.3	Q14714		ENST00000242729.2:c.477C>T	12.37:g.26383754C>T			26275021	NM_001135823	B3KS67	Silent	SNP	ENST00000242729.2	37	CCDS8707.1																																																																																				0.587	SSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402654.2	NM_005086	
ITPR2	3709	broad.mit.edu	37	12	26648163	26648163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26648163G>A	ENST00000381340.3	-	38	5520	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1702					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R1702*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTAAAGTATCGATTCAGAAGT	0.353																																					p.R1702X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5104T	12						.						129.0	118.0	122.0					12																	26648163		1848	4099	5947	26539430	SO:0001587	stop_gained	3709	exon38			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5104C>T	12.37:g.26648163G>A	ENSP00000370744:p.Arg1702*		26539430	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	49	15.374899	0.99831	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.63	4.63	0.57726	.	0.065913	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3957	0.90497	0.0:0.0:1.0:0.0	.	.	.	.	X	1702	.	ENSP00000370744:R1702X	R	-	1	2	ITPR2	26539430	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	4.977000	0.63792	2.503000	0.84419	0.591000	0.81541	CGA		0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26748460	26748460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26748460C>A	ENST00000381340.3	-	32	4734	c.4318G>T	c.(4318-4320)Gaa>Taa	p.E1440*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1440					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E1440*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTATAGATTTCTTTCATTTCC	0.323																																					p.E1440X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4318T	12						.						118.0	111.0	114.0					12																	26748460		1811	4069	5880	26639727	SO:0001587	stop_gained	3709	exon32			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4318G>T	12.37:g.26748460C>A	ENSP00000370744:p.Glu1440*		26639727	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	48	14.215293	0.99785	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.71	4.71	0.59529	.	0.049391	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2156	0.89884	0.0:1.0:0.0:0.0	.	.	.	.	X	1440	.	ENSP00000370744:E1440X	E	-	1	0	ITPR2	26639727	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.596000	0.82721	2.611000	0.88343	0.563000	0.77884	GAA		0.323	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26749869	26749869	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26749869G>T	ENST00000381340.3	-	31	4617	c.4201C>A	c.(4201-4203)Ctc>Atc	p.L1401I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1401					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.L1401I(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCCAGCGGGAGAAGGGAATTA	0.493																																					p.L1401I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4201A	12						.						96.0	97.0	97.0					12																	26749869		2065	4212	6277	26641136	SO:0001583	missense	3709	exon31			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4201C>A	12.37:g.26749869G>T	ENSP00000370744:p.Leu1401Ile		26641136	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546605	0.65198	.	.	ENSG00000123104	ENST00000381340	D	0.94613	-3.47	4.44	3.53	0.40419	.	0.077705	0.53938	D	0.000054	D	0.95329	0.8484	M	0.62016	1.91	0.80722	D	1	D	0.57571	0.98	P	0.61477	0.889	D	0.93567	0.6900	10	0.30078	T	0.28	.	11.8292	0.52285	0.0872:0.0:0.9128:0.0	.	1401	Q14571	ITPR2_HUMAN	I	1401	ENSP00000370744:L1401I	ENSP00000370744:L1401I	L	-	1	0	ITPR2	26641136	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.077000	0.50089	1.171000	0.42768	0.650000	0.86243	CTC		0.493	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26775310	26775310	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26775310C>T	ENST00000381340.3	-	25	3567	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1051					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.D1051N(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CCTCCTTCATCGTCAAGTTGA	0.388																																					p.D1051N												ITPR2,kidney,NS,Substitution - Missense,+1	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3151A	12						.						100.0	99.0	100.0					12																	26775310		1890	4117	6007	26666577	SO:0001583	missense	3709	exon25			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3151G>A	12.37:g.26775310C>T	ENSP00000370744:p.Asp1051Asn		26666577	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366938	0.82463	.	.	ENSG00000123104	ENST00000381340	T	0.64618	-0.11	5.11	5.11	0.69529	.	0.091655	0.85682	D	0.000000	T	0.76744	0.4030	M	0.77313	2.365	0.80722	D	1	D	0.69078	0.997	P	0.59357	0.856	T	0.74853	-0.3523	10	0.30854	T	0.27	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	1051	Q14571	ITPR2_HUMAN	N	1051	ENSP00000370744:D1051N	ENSP00000370744:D1051N	D	-	1	0	ITPR2	26666577	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	7.541000	0.82084	2.659000	0.90383	0.650000	0.86243	GAT		0.388	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26812056	26812056	+	Missense_Mutation	SNP	G	G	A	rs566154914		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:26812056G>A	ENST00000381340.3	-	16	2292	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	626					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R626W(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTGGCTCCCGATTTCTCCTG	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17495	0.001		0.0	False		,,,				2504	0.0				p.R626W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1876T	12						.						183.0	163.0	169.0					12																	26812056		1826	4081	5907	26703323	SO:0001583	missense	3709	exon16			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1876C>T	12.37:g.26812056G>A	ENSP00000370744:p.Arg626Trp		26703323	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200488	0.79015	.	.	ENSG00000123104	ENST00000381340	D	0.96651	-4.08	4.79	4.79	0.61399	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	N	0.17379	0.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97564	1.0100	10	0.87932	D	0	.	18.0473	0.89336	0.0:0.0:1.0:0.0	.	626	Q14571	ITPR2_HUMAN	W	626	ENSP00000370744:R626W	ENSP00000370744:R626W	R	-	1	2	ITPR2	26703323	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.750000	0.55157	2.481000	0.83766	0.650000	0.86243	CGG		0.338	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ASUN	55726	broad.mit.edu	37	12	27075611	27075611	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27075611G>T	ENST00000261191.7	-	8	1363	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	ASUN_ENST00000539625.1_Missense_Mutation_p.S175Y	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	276					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S276Y(1)									ATAATTGGCAGATGTGTTAGC	0.284																																					p.S276Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C827A	12						.						130.0	122.0	125.0					12																	27075611		2203	4300	6503	26966878	SO:0001583	missense	55726	exon8			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.827C>A	12.37:g.27075611G>T	ENSP00000261191:p.Ser276Tyr		26966878	NM_018164	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.940863|4.940863	0.92526|0.92526	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000536232|ENST00000261191;ENST00000539625	.|T;T	.|0.62788	.|0.0;0.0	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81692|0.81692	0.4876|0.4876	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.83275	.|0.996	T|T	0.82859|0.82859	-0.0249|-0.0249	5|10	.|0.87932	.|D	.|0	-17.4127|-17.4127	20.1751|20.1751	0.98176|0.98176	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|276	.|Q9NVM9	.|M89BB_HUMAN	M|Y	34|276;175	.|ENSP00000261191:S276Y;ENSP00000443724:S175Y	.|ENSP00000261191:S276Y	L|S	-|-	1|2	2|0	C12orf11|C12orf11	26966878|26966878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.447000|9.447000	0.97595|0.97595	2.855000|2.855000	0.98099|0.98099	0.585000|0.585000	0.79938|0.79938	CTG|TCT		0.284	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
FGFR1OP2	26127	broad.mit.edu	37	12	27113500	27113500	+	Missense_Mutation	SNP	G	G	A	rs144332739	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27113500G>A	ENST00000229395.3	+	5	791	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.R150Q|FGFR1OP2_ENST00000327214.5_Intron	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	150					wound healing (GO:0042060)	cytosol (GO:0005829)		p.R150Q(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GATGCATCTCGACACATCCTT	0.403																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	12						.	G	,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	112.0	93.0	99.0		,449,449	3.3	1.0	12	dbSNP_134	99	0,8600		0,0,4300	no	intron,missense,missense	FGFR1OP2	NM_001171887.1,NM_001171888.1,NM_015633.2	,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,probably-damaging,probably-damaging	,150/173,150/254	27113500	2,13004	2203	4300	6503	27004767	SO:0001583	missense	26127	exon5			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.449G>A	12.37:g.27113500G>A	ENSP00000229395:p.Arg150Gln		27004767	NM_001171888	Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386795	0.42308	4.54E-4	0.0	ENSG00000111790	ENST00000229395;ENST00000546072	.	.	.	5.23	3.35	0.38373	.	0.170408	0.28425	N	0.015391	T	0.14743	0.0356	N	0.08118	0	0.80722	D	1	B;P	0.50617	0.005;0.937	B;B	0.29077	0.004;0.098	T	0.04664	-1.0935	9	0.32370	T	0.25	-8.621	6.9964	0.24784	0.0904:0.0:0.7373:0.1723	.	150;150	Q9NVK5;Q9NVK5-3	FGOP2_HUMAN;.	Q	150	.	ENSP00000229395:R150Q	R	+	2	0	FGFR1OP2	27004767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.895000	0.28363	0.818000	0.34468	0.655000	0.94253	CGA		0.403	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	
STK38L	23012	broad.mit.edu	37	12	27468021	27468021	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27468021A>C	ENST00000389032.3	+	8	915	c.746A>C	c.(745-747)aAt>aCt	p.N249T	STK38L_ENST00000539577.1_Missense_Mutation_p.N156T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.N249T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTATAGAAATCTCACACAC	0.343																																					p.N249T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A746C	12						.						98.0	100.0	99.0					12																	27468021		2203	4300	6503	27359288	SO:0001583	missense	23012	exon8			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.746A>C	12.37:g.27468021A>C	ENSP00000373684:p.Asn249Thr		27359288	NM_015000		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257708	0.59321	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.63913	0.3;-0.07;0.36	4.32	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049029	0.85682	D	0.000000	T	0.54679	0.1873	L	0.28344	0.845	0.80722	D	1	B;B	0.30973	0.302;0.302	B;B	0.39339	0.232;0.297	T	0.56878	-0.7906	10	0.41790	T	0.15	.	13.9591	0.64168	1.0:0.0:0.0:0.0	.	156;249	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	T	249;208;156	ENSP00000373684:N249T;ENSP00000439457:N208T;ENSP00000446386:N156T	ENSP00000373684:N249T	N	+	2	0	STK38L	27359288	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.067000	0.93955	1.952000	0.56665	0.533000	0.62120	AAT		0.343	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	
ARNTL2	56938	broad.mit.edu	37	12	27543126	27543126	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27543126C>A	ENST00000266503.5	+	9	891	c.873C>A	c.(871-873)atC>atA	p.I291I	ARNTL2_ENST00000546179.1_Silent_p.I254I|ARNTL2_ENST00000544915.1_Silent_p.I257I|ARNTL2_ENST00000542388.1_Silent_p.I206I|ARNTL2_ENST00000311001.5_Silent_p.I277I|ARNTL2_ENST00000395901.2_Silent_p.I254I|ARNTL2_ENST00000261178.5_Silent_p.I243I|RP11-165P7.1_ENST00000500498.2_RNA			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	291					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.I291I(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GTTGTAAAATCTCTGTCAAAG	0.393																																					p.I291I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873A	12						.						102.0	100.0	101.0					12																	27543126		2203	4300	6503	27434393	SO:0001819	synonymous_variant	56938	exon9			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.873C>A	12.37:g.27543126C>A			27434393	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	7.359	0.624546	0.14193	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.71	1.69	0.24217	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	.	6.9736	0.24662	0.1703:0.7333:0.0:0.0964	.	.	.	.	Y	243	.	.	S	+	2	0	ARNTL2	27434393	0.000000	0.05858	0.557000	0.28306	0.961000	0.63080	0.116000	0.15561	0.912000	0.36772	-0.136000	0.14681	TCT		0.393	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
PPFIBP1	8496	broad.mit.edu	37	12	27830005	27830005	+	Intron	SNP	C	C	T	rs371335870		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27830005C>T	ENST00000318304.8	+	18	1916				PPFIBP1_ENST00000228425.6_Nonsense_Mutation_p.R531*|PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000542629.1_Intron	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.R531*(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGATCGTAAACGAAGTGCCAG	0.502																																					p.R531X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1591T	12						.	C	,,stop/ARG,	1,4405	2.1+/-5.4	0,1,2202	347.0	286.0	307.0		,,1591,	5.4	1.0	12		307	0,8600		0,0,4300	no	intron,intron,stop-gained,intron	PPFIBP1	NM_001198915.1,NM_001198916.1,NM_003622.3,NM_177444.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,,531/1006,	27830005	1,13005	2203	4300	6503	27721272	SO:0001627	intron_variant	8496	exon19			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1633+473C>T	12.37:g.27830005C>T			27721272	NM_003622	O75336|Q86X70|Q9NY03|Q9ULJ0	Intron	SNP	ENST00000318304.8	37	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381988	0.98786	2.27E-4	0.0	ENSG00000110841	ENST00000228425	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	531	.	ENSP00000228425:R531X	R	+	1	2	PPFIBP1	27721272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.205000	0.42770	2.832000	0.97577	0.655000	0.94253	CGA		0.502	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	
PPFIBP1	8496	broad.mit.edu	37	12	27841951	27841951	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:27841951C>A	ENST00000318304.8	+	26	2801	c.2518C>A	c.(2518-2520)Cta>Ata	p.L840I	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L834I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L687I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L809I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	840	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.L840I(1)|p.L834I(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TAAACAGGTTCTAGAGCCTCG	0.353																																					p.L687I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2059A	12						.						63.0	59.0	61.0					12																	27841951		2203	4300	6503	27733218	SO:0001583	missense	8496	exon24			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2518C>A	12.37:g.27841951C>A	ENSP00000314724:p.Leu840Ile		27733218	NM_001198915	O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.076167|4.076167	0.76415|0.76415	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000539326|ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	.|T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86	5.18|5.18	4.25|4.25	0.50352|0.50352	.|Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	.|0.000000	.|0.28436	.|U	.|0.015357	T|T	0.66386|0.66386	0.2784|0.2784	M|M	0.83118|0.83118	2.625|2.625	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0;0.999	.|D;D;D;D;D	.|0.97110	.|1.0;0.996;0.999;0.999;0.999	T|T	0.69423|0.69423	-0.5149|-0.5149	5|10	.|0.72032	.|D	.|0.01	-10.575|-10.575	7.1826|7.1826	0.25780|0.25780	0.1614:0.7226:0.0:0.116|0.1614:0.7226:0.0:0.116	.|.	.|687;671;840;834;809	.|Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.|.;.;LIPB1_HUMAN;.;.	L|I	70|671;687;840;809;834	.|ENSP00000444304:L671I;ENSP00000445425:L687I;ENSP00000314724:L840I;ENSP00000443442:L809I;ENSP00000228425:L834I	.|ENSP00000228425:L834I	F|L	+|+	3|1	2|2	PPFIBP1|PPFIBP1	27733218|27733218	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.568000|1.568000	0.36418|0.36418	2.418000|2.418000	0.82041|0.82041	0.591000|0.591000	0.81541|0.81541	TTC|CTA		0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	
CCDC91	55297	broad.mit.edu	37	12	28460625	28460625	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:28460625T>C	ENST00000545336.1	+	9	938	c.519T>C	c.(517-519)ttT>ttC	p.F173F	CCDC91_ENST00000381256.1_Silent_p.F173F|CCDC91_ENST00000306172.5_Silent_p.F143F|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.F173F|CCDC91_ENST00000539107.1_Silent_p.F173F			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	173					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F173F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAAAAGGCTTTCTAAAAGAAA	0.284																																					p.F173F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T519C	12						.						61.0	63.0	63.0					12																	28460625		2203	4293	6496	28351892	SO:0001819	synonymous_variant	55297	exon5			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.519T>C	12.37:g.28460625T>C			28351892	NM_018318	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	ENST00000545336.1	37	CCDS8716.1																																																																																				0.284	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
FAR2	55711	broad.mit.edu	37	12	29469918	29469918	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:29469918A>G	ENST00000536681.3	+	9	1346	c.1100A>G	c.(1099-1101)tAt>tGt	p.Y367C	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.Y270C|FAR2_ENST00000182377.4_Missense_Mutation_p.Y367C	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	367					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.Y367C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TATGACTGCTATCTGCGGCTC	0.507																																					p.Y367C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1100G	12						.						130.0	132.0	131.0					12																	29469918		2203	4300	6503	29361185	SO:0001583	missense	55711	exon9			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1100A>G	12.37:g.29469918A>G	ENSP00000443291:p.Tyr367Cys		29361185	NM_018099	F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.036024	0.35893	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.31247	1.93;1.93;1.5	4.44	4.44	0.53790	.	0.258720	0.32273	N	0.006332	T	0.24198	0.0586	L	0.29908	0.895	0.43368	D	0.995451	B	0.25206	0.12	B	0.27715	0.082	T	0.07481	-1.0770	10	0.56958	D	0.05	-11.7982	11.7233	0.51696	1.0:0.0:0.0:0.0	.	367	Q96K12	FACR2_HUMAN	C	367;367;270	ENSP00000443291:Y367C;ENSP00000182377:Y367C;ENSP00000449349:Y270C	ENSP00000182377:Y367C	Y	+	2	0	FAR2	29361185	0.987000	0.35691	0.881000	0.34555	0.854000	0.48673	2.601000	0.46249	1.866000	0.54105	0.383000	0.25322	TAT		0.507	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099	
OVCH1	341350	broad.mit.edu	37	12	29648248	29648248	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:29648248G>T	ENST00000318184.5	-	4	423	c.424C>A	c.(424-426)Ctg>Atg	p.L142M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	142	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L142M(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGATACAGCAGTGCAATATCA	0.348																																					p.L142M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424A	12						.						204.0	193.0	196.0					12																	29648248		1850	4085	5935	29539515	SO:0001583	missense	341350	exon4			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.424C>A	12.37:g.29648248G>T	ENSP00000326708:p.Leu142Met		29539515	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	G	13.69	2.312676	0.40895	.	.	ENSG00000187950	ENST00000318184	D	0.97505	-4.41	2.89	2.0	0.26442	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97324	0.9125	M	0.76727	2.345	0.09310	N	0.999999	D	0.71674	0.998	D	0.65874	0.939	D	0.91262	0.5037	9	0.52906	T	0.07	.	4.2879	0.10863	0.1345:0.2381:0.6274:0.0	.	142	Q7RTY7	OVCH1_HUMAN	M	142	ENSP00000326708:L142M	ENSP00000326708:L142M	L	-	1	2	OVCH1	29539515	0.555000	0.26530	0.561000	0.28357	0.994000	0.84299	1.121000	0.31283	0.787000	0.33731	0.655000	0.94253	CTG		0.348	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
TMTC1	83857	broad.mit.edu	37	12	29689219	29689219	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:29689219A>C	ENST00000539277.1	-	11	1766	c.1708T>G	c.(1708-1710)Tta>Gta	p.L570V	TMTC1_ENST00000551659.1_Missense_Mutation_p.L632V|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.L524V|TMTC1_ENST00000256062.5_Missense_Mutation_p.L462V|TMTC1_ENST00000552618.1_Missense_Mutation_p.L594V	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	570						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L462V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCTTCAGTAAGGTGATAGCT	0.388																																					p.L570V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1708G	12						.						177.0	166.0	170.0					12																	29689219		2203	4300	6503	29580486	SO:0001583	missense	83857	exon11				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1708T>G	12.37:g.29689219A>C	ENSP00000442046:p.Leu570Val		29580486	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856319	0.51376	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.63744	-0.06;0.59;0.24;0.59;-0.06	5.6	4.47	0.54385	Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);Tetratricopeptide repeat-containing (1);	0.272597	0.30930	N	0.008590	T	0.53530	0.1802	L	0.45470	1.425	0.30323	N	0.787418	P;B;B	0.36712	0.566;0.304;0.138	B;B;B	0.40101	0.319;0.047;0.044	T	0.54774	-0.8243	9	.	.	.	-9.0507	6.64	0.22904	0.874:0.0:0.126:0.0	.	524;570;632	Q8IUR5-3;Q8IUR5;F8VTQ9	.;TMTC1_HUMAN;.	V	333;462;632;594;570;524	ENSP00000256062:L462V;ENSP00000448112:L632V;ENSP00000449043:L594V;ENSP00000442046:L570V;ENSP00000370622:L524V	.	L	-	1	2	TMTC1	29580486	0.481000	0.25941	0.641000	0.29422	0.970000	0.65996	0.862000	0.27899	0.960000	0.38005	0.533000	0.62120	TTA		0.388	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
TMTC1	83857	broad.mit.edu	37	12	29904729	29904729	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:29904729G>T	ENST00000539277.1	-	5	866	c.808C>A	c.(808-810)Cac>Aac	p.H270N	TMTC1_ENST00000551659.1_Missense_Mutation_p.H270N|TMTC1_ENST00000381224.2_Missense_Mutation_p.H162N|TMTC1_ENST00000256062.5_Missense_Mutation_p.H162N|TMTC1_ENST00000552618.1_Missense_Mutation_p.H270N	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	270						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.H162N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTCCCGGTGAGGATGGCCT	0.627																																					p.H270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808A	12						.						40.0	37.0	38.0					12																	29904729		2203	4299	6502	29795996	SO:0001583	missense	83857	exon5				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.808C>A	12.37:g.29904729G>T	ENSP00000442046:p.His270Asn		29795996	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	5.978	0.364331	0.11296	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.67523	-0.27;0.0;-0.25;-0.14;1.58	4.83	4.83	0.62350	.	0.986824	0.08272	N	0.971348	T	0.56187	0.1968	L	0.29908	0.895	0.19775	N	0.99996	B;B	0.26547	0.152;0.039	B;B	0.18871	0.023;0.006	T	0.36529	-0.9744	9	.	.	.	-0.33	14.1526	0.65395	0.0:0.0:1.0:0.0	.	162;270	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	N	162;270;270;270;162	ENSP00000256062:H162N;ENSP00000448112:H270N;ENSP00000449043:H270N;ENSP00000442046:H270N;ENSP00000370622:H162N	.	H	-	1	0	TMTC1	29795996	0.420000	0.25457	0.016000	0.15963	0.175000	0.22909	0.709000	0.25734	2.610000	0.88304	0.555000	0.69702	CAC		0.627	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
TMTC1	83857	broad.mit.edu	37	12	29911645	29911645	+	Silent	SNP	C	C	T	rs146162779	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:29911645C>T	ENST00000539277.1	-	3	604	c.546G>A	c.(544-546)tcG>tcA	p.S182S	TMTC1_ENST00000551659.1_Silent_p.S182S|TMTC1_ENST00000381224.2_Silent_p.S74S|TMTC1_ENST00000256062.5_Silent_p.S74S|TMTC1_ENST00000552618.1_Silent_p.S182S	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	182						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S74S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCTGTTGTACGAGAGAAAGG	0.478													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19194	0.0		0.0	False		,,,				2504	0.001				p.S182S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G546A	12						.	C	,	3,4403	6.2+/-15.9	0,3,2200	117.0	84.0	95.0		546,222	3.8	1.0	12	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMTC1	NM_001193451.1,NM_175861.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	182/883,74/775	29911645	3,13003	2203	4300	6503	29802912	SO:0001819	synonymous_variant	83857	exon3				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.546G>A	12.37:g.29911645C>T			29802912	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	CCDS53772.1																																																																																				0.478	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
IPO8	10526	broad.mit.edu	37	12	30827624	30827624	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:30827624C>T	ENST00000256079.4	-	7	1131	c.793G>A	c.(793-795)Gca>Aca	p.A265T	IPO8_ENST00000544829.1_Missense_Mutation_p.A60T	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	265					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.A265T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATATGCAGTGCCCACTTCTTA	0.393																																					p.A265T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	12						.						261.0	248.0	252.0					12																	30827624		2203	4300	6503	30718891	SO:0001583	missense	10526	exon7			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.793G>A	12.37:g.30827624C>T	ENSP00000256079:p.Ala265Thr		30718891	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225470	0.95173	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T;T	0.74209	-0.82;-0.82;-0.82	3.99	3.99	0.46301	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.79108	0.992;0.934	D	0.85003	0.0901	10	0.41790	T	0.15	-12.3262	16.6289	0.85011	0.0:1.0:0.0:0.0	.	60;265	B7Z7M3;O15397	.;IPO8_HUMAN	T	265;60;79	ENSP00000256079:A265T;ENSP00000444520:A60T;ENSP00000439556:A79T	ENSP00000256079:A265T	A	-	1	0	IPO8	30718891	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.687000	0.68219	2.202000	0.70862	0.563000	0.77884	GCA		0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CAPRIN2	65981	broad.mit.edu	37	12	30882056	30882056	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:30882056T>G	ENST00000395805.2	-	8	1855	c.1308A>C	c.(1306-1308)gcA>gcC	p.A436A	CAPRIN2_ENST00000298892.5_Silent_p.A436A|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Silent_p.A436A|CAPRIN2_ENST00000251071.5_Silent_p.A436A|CAPRIN2_ENST00000308433.5_Silent_p.A103A	NM_001206856.1	NP_001193785.1			caprin family member 2									p.A436A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTAAGGAAACTGCAGGCTTGG	0.483																																					p.A436A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1308C	12						.						120.0	114.0	116.0					12																	30882056		2203	4300	6503	30773323	SO:0001819	synonymous_variant	65981	exon8			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1308A>C	12.37:g.30882056T>G			30773323	NM_001002259		Silent	SNP	ENST00000395805.2	37	CCDS55816.1																																																																																				0.483	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
CAPRIN2	65981	broad.mit.edu	37	12	30887963	30887963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:30887963C>A	ENST00000395805.2	-	4	1295	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.E250*|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.E250*|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.E250*|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E250*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TAGTCAAGTTCTTTTGAAGGC	0.373																																					p.E250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	12						.						169.0	167.0	168.0					12																	30887963		2203	4300	6503	30779230	SO:0001587	stop_gained	65981	exon4			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.748G>T	12.37:g.30887963C>A	ENSP00000379150:p.Glu250*		30779230	NM_001002259		Nonsense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	39	7.325092	0.98214	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550	.	.	.	4.72	3.83	0.44106	.	0.378221	0.30011	N	0.010631	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.3822	13.0598	0.59000	0.0:0.9222:0.0:0.0778	.	.	.	.	X	250;250;250;250;169;47;47;169	.	ENSP00000251071:E250X	E	-	1	0	CAPRIN2	30779230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.681000	0.54648	1.205000	0.43262	0.591000	0.81541	GAA		0.373	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
CAPRIN2	65981	broad.mit.edu	37	12	30906661	30906661	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:30906661C>T	ENST00000395805.2	-	1	584	c.37G>A	c.(37-39)Gag>Aag	p.E13K	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E13K|RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E13K|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E13K|CAPRIN2_ENST00000308433.5_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E13K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGTGAGCTCGAAACCCAAT	0.408											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E13K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G37A	12						.						103.0	104.0	104.0					12																	30906661		2202	4299	6501	30797928	SO:0001583	missense	65981	exon1			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.37G>A	12.37:g.30906661C>T	ENSP00000379150:p.Glu13Lys	820	30797928	NM_001002259		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416424	0.42918	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.72942	-0.7;2.78;-0.65;2.78	3.72	2.83	0.33086	.	.	.	.	.	T	0.45115	0.1326	N	0.08118	0	0.19575	N	0.999964	B;B;B;B	0.13145	0.004;0.007;0.002;0.003	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.25328	-1.0135	8	.	.	.	0.5218	5.7801	0.18301	0.0:0.7584:0.0:0.2416	.	13;13;13;13	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	K	13	ENSP00000298892:E13K;ENSP00000379150:E13K;ENSP00000251071:E13K;ENSP00000391479:E13K	.	E	-	1	0	CAPRIN2	30797928	0.001000	0.12720	0.056000	0.19401	0.500000	0.33767	0.235000	0.17948	0.783000	0.33636	0.563000	0.77884	GAG		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
DDX11	1663	broad.mit.edu	37	12	31247735	31247735	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:31247735C>T	ENST00000407793.2	+	14	1712	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Silent_p.I487I|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000542838.1_Silent_p.I487I|DDX11_ENST00000228264.6_Silent_p.I461I|DDX11_ENST00000350437.4_Silent_p.I487I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	487					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I487I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAGCCAGATCGACAACATCA	0.483										Multiple Myeloma(12;0.14)																											p.I487I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1461T	12						.						52.0	52.0	52.0					12																	31247735		2203	4297	6500	31139002	SO:0001819	synonymous_variant	1663	exon14			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1461C>T	12.37:g.31247735C>T			31139002	NM_004399	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.483	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
DENND5B	160518	broad.mit.edu	37	12	31577526	31577526	+	Silent	SNP	G	G	A	rs187555875	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:31577526G>A	ENST00000389082.5	-	10	2598	c.2334C>T	c.(2332-2334)atC>atT	p.I778I	DENND5B_ENST00000306833.6_Silent_p.I813I|DENND5B_ENST00000536562.1_Silent_p.I813I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	778	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.I778I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAAGGCTGGCGATCAAGGTGT	0.532													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17205	0.0		0.0	False		,,,				2504	0.0				p.I778I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	12						.	G		13,4127		0,13,2057	182.0	178.0	179.0		2334	-4.1	0.7	12		179	0,8456		0,0,4228	yes	coding-synonymous	DENND5B	NM_144973.3		0,13,6285	AA,AG,GG		0.0,0.314,0.1032		778/1275	31577526	13,12583	2070	4228	6298	31468793	SO:0001819	synonymous_variant	160518	exon10			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2334C>T	12.37:g.31577526G>A			31468793	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	CCDS44857.1																																																																																				0.532	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
AMN1	196394	broad.mit.edu	37	12	31854856	31854856	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:31854856T>G	ENST00000281471.6	-	3	422	c.257A>C	c.(256-258)aAa>aCa	p.K86T	AMN1_ENST00000536761.1_Missense_Mutation_p.K68T|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.K68T	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	86								p.K86T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TTTCTTCAGTTTTCTACAGTT	0.353																																					p.K86T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257C	12						.						43.0	42.0	42.0					12																	31854856		1834	4083	5917	31746123	SO:0001583	missense	196394	exon3				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.257A>C	12.37:g.31854856T>G	ENSP00000281471:p.Lys86Thr		31746123	NM_001113402	B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.410486	0.42715	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408;ENST00000537960;ENST00000506446	T;T;T;T;T;T	0.17528	3.63;3.63;3.63;3.63;2.28;2.27	5.37	5.37	0.77165	.	0.215397	0.40469	N	0.001096	T	0.17577	0.0422	M	0.72479	2.2	0.80722	D	1	P	0.40144	0.704	B	0.27380	0.079	T	0.07829	-1.0752	10	0.21540	T	0.41	.	15.6746	0.77307	0.0:0.0:0.0:1.0	.	86	Q8IY45	AMN1_HUMAN	T	86;68;68;68;68;88	ENSP00000281471:K86T;ENSP00000441419:K68T;ENSP00000440967:K68T;ENSP00000438990:K68T;ENSP00000441846:K68T;ENSP00000439438:K88T	ENSP00000281471:K86T	K	-	2	0	AMN1	31746123	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	4.774000	0.62339	2.164000	0.68074	0.533000	0.62120	AAA		0.353	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2	NR_004854	
H3F3C	440093	broad.mit.edu	37	12	31944983	31944983	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:31944983G>A	ENST00000340398.3	-	1	192	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	40					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.R40C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGCCTGTAGCGATGAGGCTTC	0.607										HNSCC(67;0.2)																											p.R40C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C118T	12						.						59.0	57.0	57.0					12																	31944983		2203	4300	6503	31836250	SO:0001583	missense	440093	exon1			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.118C>T	12.37:g.31944983G>A	ENSP00000339835:p.Arg40Cys		31836250	NM_001013699	E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286808	0.10513	.	.	ENSG00000188375	ENST00000340398	T	0.52295	0.67	0.999	-2.0	0.07433	Histone-fold (2);	0.398688	0.19628	N	0.109742	T	0.51143	0.1657	M	0.93550	3.43	0.39901	D	0.973893	B	0.24132	0.098	B	0.22753	0.041	T	0.43523	-0.9386	10	0.62326	D	0.03	.	6.32	0.21213	0.3436:0.0:0.6564:0.0	.	40	Q6NXT2	H3C_HUMAN	C	40	ENSP00000339835:R40C	ENSP00000339835:R40C	R	-	1	0	H3F3C	31836250	1.000000	0.71417	0.000000	0.03702	0.028000	0.11728	3.716000	0.54904	-0.641000	0.05487	-0.506000	0.04501	CGC		0.607	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699	
KIAA1551	55196	broad.mit.edu	37	12	32134898	32134898	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32134898T>G	ENST00000312561.4	+	4	1423	c.1009T>G	c.(1009-1011)Ttc>Gtc	p.F337V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	337								p.F337V(1)									AATTGGAAATTTCACTAACTT	0.398																																					p.F337V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1009G	12						.						87.0	84.0	85.0					12																	32134898		2203	4300	6503	32026165	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1009T>G	12.37:g.32134898T>G	ENSP00000310338:p.Phe337Val		32026165	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961331	0.34565	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.07216	3.83;3.21	5.45	1.91	0.25777	.	0.655283	0.14267	N	0.330452	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	B	0.29432	0.244	B	0.28553	0.091	T	0.40478	-0.9561	9	.	.	.	.	4.3731	0.11258	0.0:0.238:0.167:0.5949	.	337	Q9HCM1	CL035_HUMAN	V	337	ENSP00000310338:F337V;ENSP00000370442:F337V	.	F	+	1	0	C12orf35	32026165	0.003000	0.15002	0.009000	0.14445	0.202000	0.24057	-0.216000	0.09266	0.901000	0.36495	0.454000	0.30748	TTC		0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1551	55196	broad.mit.edu	37	12	32136876	32136876	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32136876G>A	ENST00000312561.4	+	4	3401	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	996								p.S996N(1)									CTAGAGAAAAGTAGTTTGGAG	0.398																																					p.S996N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2987A	12						.						45.0	47.0	46.0					12																	32136876		2203	4298	6501	32028143	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2987G>A	12.37:g.32136876G>A	ENSP00000310338:p.Ser996Asn		32028143	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634634	0.29068	.	.	ENSG00000174718	ENST00000312561	T	0.12361	2.69	5.69	3.69	0.42338	.	0.811662	0.11391	N	0.568821	T	0.13713	0.0332	L	0.59436	1.845	0.09310	N	1	B	0.15141	0.012	B	0.20184	0.028	T	0.34329	-0.9833	9	.	.	.	.	4.3014	0.10927	0.5697:0.0:0.4303:0.0	.	996	Q9HCM1	CL035_HUMAN	N	996	ENSP00000310338:S996N	.	S	+	2	0	C12orf35	32028143	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.023000	0.12456	0.651000	0.30788	0.655000	0.94253	AGT		0.398	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
BICD1	636	broad.mit.edu	37	12	32369294	32369294	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32369294C>A	ENST00000281474.5	+	2	430	c.327C>A	c.(325-327)atC>atA	p.I109I	BICD1_ENST00000548411.1_Silent_p.I109I	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	109					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.I109I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGGGGAAGATCTTGGAGATGC	0.547																																					p.I109I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327A	12						.						110.0	102.0	105.0					12																	32369294		2203	4300	6503	32260561	SO:0001819	synonymous_variant	636	exon2			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.327C>A	12.37:g.32369294C>A			32260561	NM_001003398	A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	CCDS8726.1																																																																																				0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
FGD4	121512	broad.mit.edu	37	12	32734932	32734932	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32734932C>A	ENST00000427716.2	+	4	555	c.131C>A	c.(130-132)gCt>gAt	p.A44D	FGD4_ENST00000531134.1_Missense_Mutation_p.A129D|FGD4_ENST00000525053.1_Missense_Mutation_p.A156D|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000472289.1_Missense_Mutation_p.A44D|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.A181D	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	44	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A44D(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAGTCTGCTGTGAACCTA	0.393																																					p.A44D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C131A	12						.						86.0	87.0	87.0					12																	32734932		2203	4300	6503	32626199	SO:0001583	missense	121512	exon4			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.131C>A	12.37:g.32734932C>A	ENSP00000394487:p.Ala44Asp		32626199	NM_139241	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917412	0.33815	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000525053;ENST00000395742	T;T;T;T	0.70045	-0.45;-0.44;-0.44;-0.44	4.63	3.72	0.42706	.	0.406760	0.20662	N	0.088008	T	0.57388	0.2050	N	0.08118	0	0.80722	D	1	B;B;B;D	0.55385	0.201;0.037;0.09;0.971	B;B;B;P	0.52957	0.051;0.035;0.036;0.714	T	0.64398	-0.6417	10	0.62326	D	0.03	-3.3341	13.2827	0.60224	0.0:0.8408:0.1592:0.0	.	156;129;44;44	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	D	181;129;44;44;156;25	ENSP00000449273:A181D;ENSP00000431323:A129D;ENSP00000394487:A44D;ENSP00000433666:A156D	ENSP00000379089:A44D	A	+	2	0	FGD4	32626199	0.289000	0.24334	0.962000	0.40283	0.578000	0.36192	3.098000	0.50259	1.039000	0.40074	0.563000	0.77884	GCT		0.393	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	
YARS2	51067	broad.mit.edu	37	12	32908661	32908661	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32908661C>A	ENST00000324868.8	-	1	175	c.148G>T	c.(148-150)Gac>Tac	p.D50Y		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	50					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)	p.D50Y(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGGAAGAAGTCCTTGAACAGA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D50Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148T	12						.						100.0	108.0	105.0					12																	32908661		2203	4300	6503	32799928	SO:0001583	missense	51067	exon1			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.148G>T	12.37:g.32908661C>A	ENSP00000320658:p.Asp50Tyr	836	32799928	NM_001040436	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427699	0.83667	.	.	ENSG00000139131	ENST00000324868	T	0.74106	-0.81	5.1	4.22	0.49857	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.402823	0.29246	N	0.012704	T	0.73760	0.3628	L	0.27053	0.805	0.40331	D	0.97892	D	0.65815	0.995	P	0.56788	0.806	T	0.78016	-0.2369	10	0.87932	D	0	-8.2383	13.0532	0.58966	0.0:0.9229:0.0:0.0771	.	50	Q9Y2Z4	SYYM_HUMAN	Y	50	ENSP00000320658:D50Y	ENSP00000320658:D50Y	D	-	1	0	YARS2	32799928	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	5.330000	0.65899	1.401000	0.46761	0.650000	0.86243	GAC		0.577	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936	
PKP2	5318	broad.mit.edu	37	12	32977061	32977061	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:32977061G>A	ENST00000070846.6	-	8	1748	c.1724C>T	c.(1723-1725)gCg>gTg	p.A575V	PKP2_ENST00000340811.4_Missense_Mutation_p.A531V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	575					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.A575V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTCATCGCTTTTCTCCC	0.403																																					p.A575V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1724T	12						.						147.0	124.0	132.0					12																	32977061		2203	4300	6503	32868328	SO:0001583	missense	5318	exon8			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1724C>T	12.37:g.32977061G>A	ENSP00000070846:p.Ala575Val		32868328	NM_004572	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	1.724	-0.495897	0.04291	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.75260	-0.92;-0.92	5.53	1.72	0.24424	Armadillo-like helical (1);Armadillo-type fold (1);	0.700493	0.14412	N	0.321211	T	0.51075	0.1653	N	0.17631	0.505	0.30227	N	0.7963	B;B;B	0.14805	0.004;0.002;0.011	B;B;B	0.09377	0.004;0.002;0.001	T	0.36383	-0.9750	10	0.14252	T	0.57	-4.7271	3.599	0.08018	0.4871:0.0:0.2671:0.2457	.	531;531;575	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	531;575;575	ENSP00000342800:A531V;ENSP00000070846:A575V	ENSP00000070846:A575V	A	-	2	0	PKP2	32868328	0.837000	0.29446	0.919000	0.36401	0.348000	0.29142	0.755000	0.26405	0.401000	0.25424	-0.482000	0.04802	GCG		0.403	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
ALG10B	144245	broad.mit.edu	37	12	38714050	38714050	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:38714050G>A	ENST00000308742.4	+	3	773	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	153					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.E153K(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTATTATACAGAAGCAGGATC	0.348																																					p.E153K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G457A	12						.						114.0	118.0	117.0					12																	38714050		2203	4299	6502	37000317	SO:0001583	missense	144245	exon3			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.457G>A	12.37:g.38714050G>A	ENSP00000310120:p.Glu153Lys		37000317	NM_001013620	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.176107	0.78564	.	.	ENSG00000175548	ENST00000308742	T	0.57595	0.39	3.26	3.26	0.37387	.	0.046320	0.85682	D	0.000000	T	0.57095	0.2030	L	0.55481	1.735	0.80722	D	1	P	0.41080	0.737	P	0.49140	0.601	T	0.63928	-0.6526	10	0.87932	D	0	.	12.7892	0.57523	0.0:0.0:1.0:0.0	.	153	Q5I7T1	AG10B_HUMAN	K	153	ENSP00000310120:E153K	ENSP00000310120:E153K	E	+	1	0	ALG10B	37000317	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.211000	0.95120	2.124000	0.65301	0.561000	0.74099	GAA		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
ALG10B	144245	broad.mit.edu	37	12	38714425	38714425	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:38714425G>A	ENST00000308742.4	+	3	1148	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	278					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.D278N(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTTATTGGCGATCGGAGTAG	0.368																																					p.D278N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	12						.						157.0	156.0	156.0					12																	38714425		2203	4295	6498	37000692	SO:0001583	missense	144245	exon3			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.832G>A	12.37:g.38714425G>A	ENSP00000310120:p.Asp278Asn		37000692	NM_001013620	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.108245	0.77096	.	.	ENSG00000175548	ENST00000308742	T	0.60920	0.15	3.24	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85069	0.0939	10	0.66056	D	0.02	.	12.7668	0.57396	0.0:0.0:1.0:0.0	.	278	Q5I7T1	AG10B_HUMAN	N	278	ENSP00000310120:D278N	ENSP00000310120:D278N	D	+	1	0	ALG10B	37000692	1.000000	0.71417	0.712000	0.30502	0.802000	0.45316	9.132000	0.94455	2.113000	0.64589	0.655000	0.94253	GAT		0.368	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
ALG10B	144245	broad.mit.edu	37	12	38714509	38714509	+	Missense_Mutation	SNP	C	C	A	rs143124122	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:38714509C>A	ENST00000308742.4	+	3	1232	c.916C>A	c.(916-918)Ctc>Atc	p.L306I	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	306					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.L306I(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTCCTCATCTCCTGTCTCC	0.348																																					p.L306I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916A	12						.						128.0	135.0	133.0					12																	38714509		2203	4299	6502	37000776	SO:0001583	missense	144245	exon3			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.916C>A	12.37:g.38714509C>A	ENSP00000310120:p.Leu306Ile		37000776	NM_001013620	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	6.641	0.486818	0.12641	.	.	ENSG00000175548	ENST00000308742	T	0.55760	0.5	3.34	-0.516	0.11950	.	0.146147	0.47852	D	0.000214	T	0.40862	0.1134	L	0.51422	1.61	0.80722	D	1	P	0.39883	0.693	B	0.39840	0.311	T	0.11324	-1.0592	10	0.29301	T	0.29	.	7.455	0.27261	0.0:0.579:0.0:0.421	.	306	Q5I7T1	AG10B_HUMAN	I	306	ENSP00000310120:L306I	ENSP00000310120:L306I	L	+	1	0	ALG10B	37000776	1.000000	0.71417	0.439000	0.26833	0.438000	0.31896	1.180000	0.32005	-0.117000	0.11872	-0.136000	0.14681	CTC		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
KIF21A	55605	broad.mit.edu	37	12	39716680	39716680	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:39716680C>T	ENST00000361418.5	-	27	3476	c.3461G>A	c.(3460-3462)cGa>cAa	p.R1154Q	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1134Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1118Q|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1141Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.R1154Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1154					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1141Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GGTTCTCCTTCGGGCCTAGTC	0.438																																					p.R1118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3353A	12						.						123.0	117.0	119.0					12																	39716680		2203	4300	6503	38002947	SO:0001583	missense	55605	exon25			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3461G>A	12.37:g.39716680C>T	ENSP00000354878:p.Arg1154Gln		38002947	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.071814|5.071814	0.93950|0.93950	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|T;T;T;T;T;T	.|0.73047	.|-0.64;-0.63;-0.1;-0.71;-0.55;-0.6	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.158511	.|0.29730	.|N	.|0.011353	D|D	0.84051|0.84051	0.5387|0.5387	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|P;D;B;P;P;D	.|0.71674	.|0.951;0.998;0.226;0.802;0.934;0.983	.|B;D;B;B;B;P	.|0.75484	.|0.242;0.986;0.032;0.131;0.409;0.612	D|D	0.85442|0.85442	0.1155|0.1155	5|10	.|0.72032	.|D	.|0.01	.|.	19.0969|19.0969	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1134;1118;1154;1141;1154;201	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.|.;.;KI21A_HUMAN;.;.;.	K|Q	502|1141;1154;1154;201;195;1134;1154;1118	.|ENSP00000354851:R1141Q;ENSP00000379029:R1154Q;ENSP00000448792:R195Q;ENSP00000445606:R1134Q;ENSP00000354878:R1154Q;ENSP00000438075:R1118Q	.|ENSP00000344501:R1154Q	E|R	-|-	1|2	0|0	KIF21A|KIF21A	38002947|38002947	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.332000|7.332000	0.79203|0.79203	2.496000|2.496000	0.84212|0.84212	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.438	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KIF21A	55605	broad.mit.edu	37	12	39726186	39726186	+	Nonsense_Mutation	SNP	G	G	A	rs142292357		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:39726186G>A	ENST00000361418.5	-	21	2896	c.2881C>T	c.(2881-2883)Cga>Tga	p.R961*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.R948*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.R925*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.R948*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.R961*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	961					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R948*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGTTTCTCTCGTCTTTTTGTG	0.398																																					p.R925X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2773T	12						.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	203.0	190.0	195.0		2842,2881,2773,2842	3.7	1.0	12	dbSNP_134	195	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	948/1638,961/1675,925/1622,948/1662	39726186	1,13005	2203	4300	6503	38012453	SO:0001587	stop_gained	55605	exon19			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2881C>T	12.37:g.39726186G>A	ENSP00000354878:p.Arg961*		38012453	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643258	0.96704	0.0	1.16E-4	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.67	3.66	0.41972	.	0.000000	0.47852	D	0.000208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1304	0.53940	0.0:0.0:0.4186:0.5814	.	.	.	.	X	948;961;961;15;9;948;961;925	.	ENSP00000344501:R961X	R	-	1	2	KIF21A	38012453	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	1.953000	0.40352	1.357000	0.45904	0.557000	0.71058	CGA		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KIF21A	55605	broad.mit.edu	37	12	39745603	39745603	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:39745603C>A	ENST00000361418.5	-	11	1664	c.1649G>T	c.(1648-1650)aGa>aTa	p.R550I	KIF21A_ENST00000544797.2_Missense_Mutation_p.R550I|KIF21A_ENST00000541463.2_Missense_Mutation_p.R550I|KIF21A_ENST00000361961.3_Missense_Mutation_p.R550I|KIF21A_ENST00000395670.3_Missense_Mutation_p.R550I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	550					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R550I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTTTTCTTTTCTTTTCAACTT	0.308																																					p.R550I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649T	12						.						60.0	66.0	64.0					12																	39745603		2203	4300	6503	38031870	SO:0001583	missense	55605	exon11			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1649G>T	12.37:g.39745603C>A	ENSP00000354878:p.Arg550Ile		38031870	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919924	0.52653	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.85	5.85	0.93711	.	0.103999	0.41938	D	0.000794	T	0.62307	0.2417	L	0.47716	1.5	0.43959	D	0.996636	D;P;P;P;P	0.53151	0.958;0.8;0.874;0.8;0.874	P;B;B;B;B	0.47981	0.563;0.203;0.387;0.143;0.277	T	0.62661	-0.6807	10	0.41790	T	0.15	.	7.6781	0.28497	0.0:0.8082:0.0:0.1918	.	550;550;550;550;550	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	I	550	ENSP00000354851:R550I;ENSP00000379029:R550I;ENSP00000445606:R550I;ENSP00000354878:R550I;ENSP00000438075:R550I	ENSP00000344501:R550I	R	-	2	0	KIF21A	38031870	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.246000	0.58740	2.768000	0.95171	0.655000	0.94253	AGA		0.308	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
KIF21A	55605	broad.mit.edu	37	12	39751232	39751232	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:39751232C>A	ENST00000361418.5	-	9	1238	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	KIF21A_ENST00000544797.2_Missense_Mutation_p.R408I|KIF21A_ENST00000541463.2_Missense_Mutation_p.R408I|KIF21A_ENST00000361961.3_Missense_Mutation_p.R408I|KIF21A_ENST00000395670.3_Missense_Mutation_p.R408I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	408					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R408I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCAATTATTCTTTTACCCTA	0.343																																					p.R408I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223T	12						.						90.0	83.0	85.0					12																	39751232		2203	4300	6503	38037499	SO:0001583	missense	55605	exon9			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1223G>T	12.37:g.39751232C>A	ENSP00000354878:p.Arg408Ile		38037499	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674069	0.88445	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;D	0.83419	-0.63;-0.6;-0.63;-0.54;-0.59;-1.72	4.55	4.55	0.56014	.	0.000000	0.56097	D	0.000026	D	0.89753	0.6806	M	0.64404	1.975	0.80722	D	1	B;D;B;D;B	0.89917	0.383;0.996;0.175;1.0;0.126	B;D;B;D;B	0.85130	0.259;0.974;0.188;0.997;0.241	D	0.90197	0.4254	10	0.51188	T	0.08	.	17.6979	0.88286	0.0:1.0:0.0:0.0	.	408;408;408;408;408	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	I	408;408;408;408;408;408;231	ENSP00000354851:R408I;ENSP00000379029:R408I;ENSP00000445606:R408I;ENSP00000354878:R408I;ENSP00000438075:R408I;ENSP00000449700:R231I	ENSP00000344501:R408I	R	-	2	0	KIF21A	38037499	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.574000	0.82434	2.236000	0.73375	0.655000	0.94253	AGA		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
C12orf40	283461	broad.mit.edu	37	12	40076564	40076564	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40076564T>G	ENST00000324616.5	+	8	992	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	C12orf40_ENST00000405531.3_Missense_Mutation_p.F280V|C12orf40_ENST00000398716.1_Missense_Mutation_p.F203V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	280								p.F280V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTTTCAAATTTTCTTGAAGA	0.338																																					p.F280V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T838G	12						.						139.0	136.0	137.0					12																	40076564		1837	4082	5919	38362831	SO:0001583	missense	283461	exon8			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.838T>G	12.37:g.40076564T>G	ENSP00000317671:p.Phe280Val		38362831	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426960	0.25726	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.57752	0.38;0.41	4.9	4.9	0.64082	.	0.342750	0.24952	N	0.034281	T	0.51092	0.1654	L	0.32530	0.975	0.09310	N	1	D	0.57257	0.979	P	0.54270	0.747	T	0.47623	-0.9103	10	0.87932	D	0	.	7.8732	0.29578	0.0:0.0956:0.0:0.9044	.	280	Q86WS4	CL040_HUMAN	V	280;203;280	ENSP00000383897:F280V;ENSP00000317671:F280V	ENSP00000317671:F280V	F	+	1	0	C12orf40	38362831	0.723000	0.28027	0.296000	0.24974	0.105000	0.19272	3.283000	0.51701	2.143000	0.66587	0.482000	0.46254	TTT		0.338	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
C12orf40	283461	broad.mit.edu	37	12	40085881	40085881	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40085881T>G	ENST00000324616.5	+	11	1532	c.1378T>G	c.(1378-1380)Tta>Gta	p.L460V	C12orf40_ENST00000405531.3_Missense_Mutation_p.L460V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	460								p.L460V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AATATATTCTTTAAAAAGCAA	0.244																																					p.L460V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1378G	12						.						29.0	29.0	29.0					12																	40085881		1771	3971	5742	38372148	SO:0001583	missense	283461	exon11			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1378T>G	12.37:g.40085881T>G	ENSP00000317671:p.Leu460Val		38372148	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	6.731	0.503665	0.12822	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	T;T	0.60299	0.2;0.27	3.09	1.9	0.25705	.	0.195695	0.24766	N	0.035777	T	0.38108	0.1028	L	0.34521	1.04	0.58432	D	0.999999	P	0.52061	0.95	B	0.41466	0.358	T	0.12915	-1.0529	10	0.18276	T	0.48	.	5.5079	0.16864	0.2466:0.0:0.0:0.7534	.	460	Q86WS4	CL040_HUMAN	V	460	ENSP00000383897:L460V;ENSP00000317671:L460V	ENSP00000317671:L460V	L	+	1	2	C12orf40	38372148	0.996000	0.38824	0.826000	0.32828	0.097000	0.18754	0.942000	0.29017	0.547000	0.28938	0.379000	0.24179	TTA		0.244	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
SLC2A13	114134	broad.mit.edu	37	12	40422198	40422198	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40422198C>A	ENST00000280871.4	-	3	880	c.830G>T	c.(829-831)aGa>aTa	p.R277I	SLC2A13_ENST00000380858.1_Missense_Mutation_p.R277I	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	277					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.R258I(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AGATAAAATTCTACGGGCCTT	0.433										HNSCC(50;0.14)																											p.R277I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830T	12						.						106.0	111.0	109.0					12																	40422198		2203	4300	6503	38708465	SO:0001583	missense	114134	exon3			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.830G>T	12.37:g.40422198C>A	ENSP00000280871:p.Arg277Ile		38708465	NM_052885	Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783546	0.70222	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.75704	-0.96;-0.96	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.144833	0.64402	D	0.000011	T	0.78362	0.4271	L	0.49455	1.56	0.58432	D	0.999993	B;P	0.44241	0.171;0.829	B;P	0.48488	0.149;0.579	T	0.79517	-0.1771	10	0.66056	D	0.02	-20.8508	19.8499	0.96734	0.0:1.0:0.0:0.0	.	277;277	Q96QE2;E9PE47	MYCT_HUMAN;.	I	277	ENSP00000280871:R277I;ENSP00000370239:R277I	ENSP00000280871:R277I	R	-	2	0	SLC2A13	38708465	0.620000	0.27068	0.964000	0.40570	0.963000	0.63663	2.744000	0.47450	2.779000	0.95612	0.591000	0.81541	AGA		0.433	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
LRRK2	120892	broad.mit.edu	37	12	40645086	40645086	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40645086G>T	ENST00000298910.7	+	9	1069	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	LRRK2_ENST00000343742.2_Missense_Mutation_p.E337D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	337					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E337D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAATCAAGAGAATGATGATG	0.323											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.E337D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1011T	12						.						54.0	59.0	57.0					12																	40645086		2203	4300	6503	38931353	SO:0001583	missense	120892	exon9			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1011G>T	12.37:g.40645086G>T	ENSP00000298910:p.Glu337Asp	895	38931353	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	6.806	0.517776	0.13005	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.34859	1.34;1.34	4.79	1.77	0.24775	Armadillo-type fold (1);	0.515626	0.17869	N	0.159253	T	0.24044	0.0582	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.16928	-1.0386	10	0.30854	T	0.27	.	4.2256	0.10579	0.2688:0.0:0.5562:0.1749	.	337	Q5S007	LRRK2_HUMAN	D	337	ENSP00000341930:E337D;ENSP00000298910:E337D	ENSP00000298910:E337D	E	+	3	2	LRRK2	38931353	0.009000	0.17119	0.000000	0.03702	0.438000	0.31896	-0.174000	0.09839	0.235000	0.21160	0.655000	0.94253	GAG		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40646787	40646787	+	Silent	SNP	G	G	A	rs200357353		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40646787G>A	ENST00000298910.7	+	11	1315	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	LRRK2_ENST00000343742.2_Silent_p.A419A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	419			A -> V (in dbSNP:rs34594498). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.A419A(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGCATCTGCGAATGCATTGT	0.363																																					p.A419A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1257A	12						.						74.0	71.0	72.0					12																	40646787		2203	4300	6503	38933054	SO:0001819	synonymous_variant	120892	exon11			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1257G>A	12.37:g.40646787G>A			38933054	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043116	0.01997	.	.	ENSG00000188906	ENST00000416796	T	0.64803	-0.12	5.12	-10.2	0.00374	.	.	.	.	.	T	0.29423	0.0733	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	T	0.30387	-0.9980	6	0.07482	T	0.82	.	3.9133	0.09213	0.2111:0.142:0.4341:0.2128	.	.	.	.	K	211	ENSP00000398726:E211K	ENSP00000398726:E211K	E	+	1	0	LRRK2	38933054	0.006000	0.16342	0.000000	0.03702	0.022000	0.10575	-2.038000	0.01419	-3.279000	0.00197	-3.753000	0.00022	GAA		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40687400	40687400	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40687400G>T	ENST00000298910.7	+	21	2801	c.2743G>T	c.(2743-2745)Gaa>Taa	p.E915*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.E915*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	915					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E915*(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGTGTAGGAGAATTTTACCG	0.323																																					p.E915X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2743T	12						.						86.0	83.0	84.0					12																	40687400		2202	4299	6501	38973667	SO:0001587	stop_gained	120892	exon21			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2743G>T	12.37:g.40687400G>T	ENSP00000298910:p.Glu915*		38973667	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	40	8.420233	0.98803	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.03	5.03	0.67393	.	0.347464	0.30338	N	0.009841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.1414	0.54000	0.079:0.0:0.921:0.0	.	.	.	.	X	915	.	ENSP00000298910:E915X	E	+	1	0	LRRK2	38973667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.972000	0.63756	2.471000	0.83476	0.650000	0.86243	GAA		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40699758	40699758	+	Missense_Mutation	SNP	G	G	T	rs573327331		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40699758G>T	ENST00000298910.7	+	28	4007	c.3949G>T	c.(3949-3951)Gac>Tac	p.D1317Y		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1317					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D1317Y(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAGCCAAAGACATCATAAG	0.289													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19582	0.0		0.0	False		,,,				2504	0.0				p.D1317Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3949T	12						.						47.0	45.0	46.0					12																	40699758		2203	4299	6502	38986025	SO:0001583	missense	120892	exon28			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3949G>T	12.37:g.40699758G>T	ENSP00000298910:p.Asp1317Tyr		38986025	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538913	0.85917	.	.	ENSG00000188906	ENST00000298910	T	0.74315	-0.83	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81375	0.4809	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.82866	-0.0245	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	1317;1317	Q17RV3;Q5S007	.;LRRK2_HUMAN	Y	1317	ENSP00000298910:D1317Y	ENSP00000298910:D1317Y	D	+	1	0	LRRK2	38986025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.352000	0.97076	2.732000	0.93576	0.655000	0.94253	GAC		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40716990	40716990	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:40716990A>C	ENST00000298910.7	+	38	5596	c.5538A>C	c.(5536-5538)ccA>ccC	p.P1846P		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1846					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.P1809P(1)|p.P1846P(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CAGATCAACCAAGGCTCACCA	0.328																																					p.P1846P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A5538C	12						.						74.0	73.0	73.0					12																	40716990		2203	4300	6503	39003257	SO:0001819	synonymous_variant	120892	exon38			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5538A>C	12.37:g.40716990A>C			39003257	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.328	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41323661	41323661	+	Missense_Mutation	SNP	G	G	A	rs4408370		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41323661G>A	ENST00000551295.2	+	7	677	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CNTN1_ENST00000547849.1_Missense_Mutation_p.R187Q|CNTN1_ENST00000360099.3_Missense_Mutation_p.R187Q|CNTN1_ENST00000347616.1_Missense_Mutation_p.R187Q|CNTN1_ENST00000348761.2_Missense_Mutation_p.R176Q|CNTN1_ENST00000547702.1_Missense_Mutation_p.R187Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	187	Ig-like C2-type 2.				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.R187Q(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)				GATAAACGGCGATTTGTGTCT	0.368																																					p.R176Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G527A	12						.						122.0	121.0	121.0					12																	41323661		2203	4299	6502	39609928	SO:0001583	missense	1272	exon6			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.560G>A	12.37:g.41323661G>A	ENSP00000447006:p.Arg187Gln		39609928	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499137	0.96355	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	M	0.84156	2.68	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.976;0.986	D	0.88446	0.3045	10	0.42905	T	0.14	.	19.5309	0.95228	0.0:0.0:1.0:0.0	rs4408370;rs4408370	187;176;187	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Q	187;187;187;187;187;176	ENSP00000448004:R187Q;ENSP00000447006:R187Q;ENSP00000448653:R187Q;ENSP00000325660:R187Q;ENSP00000353213:R187Q;ENSP00000261160:R176Q	ENSP00000325660:R187Q	R	+	2	0	CNTN1	39609928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	CGA		0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
CNTN1	1272	broad.mit.edu	37	12	41327267	41327267	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41327267A>G	ENST00000551295.2	+	8	825	c.708A>G	c.(706-708)acA>acG	p.T236T	CNTN1_ENST00000547849.1_Silent_p.T236T|CNTN1_ENST00000360099.3_Silent_p.T236T|CNTN1_ENST00000347616.1_Silent_p.T236T|CNTN1_ENST00000348761.2_Silent_p.T225T|CNTN1_ENST00000547702.1_Silent_p.T236T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	236					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.T236T(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)				TATTAGGAACAACAAAACCAT	0.338																																					p.T225T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A675G	12						.						120.0	120.0	120.0					12																	41327267		2203	4300	6503	39613534	SO:0001819	synonymous_variant	1272	exon7			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.708A>G	12.37:g.41327267A>G			39613534	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	CCDS8737.1																																																																																				0.338	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
CNTN1	1272	broad.mit.edu	37	12	41374826	41374826	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41374826G>A	ENST00000551295.2	+	16	2037	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	CNTN1_ENST00000347616.1_Silent_p.Q640Q|CNTN1_ENST00000348761.2_Silent_p.Q629Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Q640Q(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)				ACACTATCCAGACCAAGACTA	0.393																																					p.Q629Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1887A	12						.						125.0	128.0	127.0					12																	41374826		2203	4300	6503	39661093	SO:0001819	synonymous_variant	1272	exon15			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.1920G>A	12.37:g.41374826G>A			39661093	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	CCDS8737.1																																																																																				0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
PDZRN4	29951	broad.mit.edu	37	12	41966705	41966705	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41966705G>A	ENST00000402685.2	+	10	2132	c.2124G>A	c.(2122-2124)cgG>cgA	p.R708R	PDZRN4_ENST00000298919.7_Silent_p.R448R|PDZRN4_ENST00000539469.2_Silent_p.R450R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R450R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGGATTCCGGAATTATAACA	0.448																																					p.R708R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2124A	12						.						98.0	101.0	100.0					12																	41966705		2203	4300	6503	40252972	SO:0001819	synonymous_variant	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2124G>A	12.37:g.41966705G>A			40252972	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	ENST00000402685.2	37	CCDS53777.1																																																																																				0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PDZRN4	29951	broad.mit.edu	37	12	41967301	41967301	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41967301G>A	ENST00000402685.2	+	10	2728	c.2720G>A	c.(2719-2721)cGa>cAa	p.R907Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R647Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R649Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	907							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R649Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGACCCGTGCGAGACCGAATC	0.517																																					p.R907Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2720A	12						.						98.0	90.0	93.0					12																	41967301		2203	4300	6503	40253568	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2720G>A	12.37:g.41967301G>A	ENSP00000384197:p.Arg907Gln		40253568	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000397	0.93227	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.49139	0.79;0.79;0.79	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000004	T	0.74030	0.3663	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.77289	-0.2643	10	0.87932	D	0	-20.1324	19.939	0.97151	0.0:0.0:1.0:0.0	.	907;647;649	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	907;649;647	ENSP00000384197:R907Q;ENSP00000439990:R649Q;ENSP00000298919:R647Q	ENSP00000298919:R647Q	R	+	2	0	PDZRN4	40253568	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.813000	0.99286	2.890000	0.99128	0.650000	0.86243	CGA		0.517	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PDZRN4	29951	broad.mit.edu	37	12	41967475	41967475	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:41967475G>A	ENST00000402685.2	+	10	2902	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R705Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	965							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R707Q(2)|p.R965Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCATGATGCGAAGCAGGTTA	0.507																																					p.R965Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G2894A	12						.						69.0	64.0	66.0					12																	41967475		2203	4300	6503	40253742	SO:0001583	missense	29951	exon10			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2894G>A	12.37:g.41967475G>A	ENSP00000384197:p.Arg965Gln		40253742	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	1.545	-0.540706	0.04053	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.75704	-0.96;-0.96;-0.96	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.40719	0.1128	N	0.00801	-1.175	0.80722	D	1	P;B;B	0.45986	0.87;0.032;0.032	B;B;B	0.36504	0.226;0.012;0.012	T	0.61387	-0.7073	10	0.02654	T	1	-25.0878	18.9769	0.92740	0.0:0.0:1.0:0.0	.	965;705;707	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	965;707;705	ENSP00000384197:R965Q;ENSP00000439990:R707Q;ENSP00000298919:R705Q	ENSP00000298919:R705Q	R	+	2	0	PDZRN4	40253742	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	4.735000	0.62051	2.656000	0.90262	0.557000	0.71058	CGA		0.507	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
PRICKLE1	144165	broad.mit.edu	37	12	42860028	42860028	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:42860028G>A	ENST00000455697.1	-	6	1028	c.743C>T	c.(742-744)gCg>gTg	p.A248V	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.A248V|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.A248V|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.A248V|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.A248V	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	248	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A248V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACAGTACTCCGCATAGAGAGA	0.522																																					p.A248V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	12						.						76.0	73.0	74.0					12																	42860028		2203	4300	6503	41146295	SO:0001583	missense	144165	exon6			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.743C>T	12.37:g.42860028G>A	ENSP00000401060:p.Ala248Val		41146295	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711645	0.96830	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.18	5.18	0.71444	Zinc finger, LIM-type (2);	0.094019	0.64402	D	0.000001	D	0.94551	0.8245	M	0.89968	3.075	0.80722	D	1	D	0.55800	0.973	P	0.55508	0.777	D	0.95474	0.8554	10	0.87932	D	0	-4.697	19.0641	0.93103	0.0:0.0:1.0:0.0	.	248	Q96MT3	PRIC1_HUMAN	V	248	ENSP00000401060:A248V;ENSP00000398947:A248V;ENSP00000448359:A248V;ENSP00000345064:A248V;ENSP00000449819:A248V	ENSP00000345064:A248V	A	-	2	0	PRICKLE1	41146295	1.000000	0.71417	0.663000	0.29738	0.994000	0.84299	9.813000	0.99286	2.590000	0.87494	0.561000	0.74099	GCG		0.522	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
PRICKLE1	144165	broad.mit.edu	37	12	42862517	42862517	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:42862517C>T	ENST00000455697.1	-	5	784	c.499G>A	c.(499-501)Gac>Aac	p.D167N	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.D167N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.D167N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.D167N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.D167N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	167	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D167N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TAGATGAGGTCGACCAGCAGC	0.502																																					p.D167N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G499A	12						.						94.0	92.0	93.0					12																	42862517		2203	4300	6503	41148784	SO:0001583	missense	144165	exon5			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.499G>A	12.37:g.42862517C>T	ENSP00000401060:p.Asp167Asn		41148784	NM_001144882	Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	C	36	5.954499	0.97139	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.56	5.56	0.83823	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93424	0.6779	10	0.56958	D	0.05	-22.1322	19.8898	0.96926	0.0:1.0:0.0:0.0	.	167	Q96MT3	PRIC1_HUMAN	N	167	ENSP00000401060:D167N;ENSP00000398947:D167N;ENSP00000448359:D167N;ENSP00000345064:D167N;ENSP00000449819:D167N	ENSP00000345064:D167N	D	-	1	0	PRICKLE1	41148784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.775000	0.95449	0.655000	0.94253	GAC		0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1		
ADAMTS20	80070	broad.mit.edu	37	12	43777454	43777454	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:43777454T>C	ENST00000389420.3	-	31	4703	c.4704A>G	c.(4702-4704)gaA>gaG	p.E1568E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1568	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1568E(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATAGACTATTTCATTCACTT	0.373																																					p.E1568E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4704G	12						.						150.0	138.0	142.0					12																	43777454		2203	4300	6503	42063721	SO:0001819	synonymous_variant	80070	exon31			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4704A>G	12.37:g.43777454T>C			42063721	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	broad.mit.edu	37	12	43823520	43823520	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:43823520A>G	ENST00000389420.3	-	24	3388	c.3389T>C	c.(3388-3390)gTa>gCa	p.V1130A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V1130A|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1130	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V1130A(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGGTGTAAGTACACAGCTCTG	0.353																																					p.V1130A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3389C	12						.						49.0	46.0	47.0					12																	43823520		2202	4299	6501	42109787	SO:0001583	missense	80070	exon24			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3389T>C	12.37:g.43823520A>G	ENSP00000374071:p.Val1130Ala		42109787	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	A	4.029	0.002854	0.07866	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.52526	0.66;0.66	4.69	2.1	0.27182	.	1.394090	0.04985	N	0.466388	T	0.24198	0.0586	N	0.05306	-0.075	0.23346	N	0.997867	B	0.25667	0.131	B	0.29440	0.102	T	0.31641	-0.9936	10	0.08179	T	0.78	.	3.7924	0.08726	0.6397:0.0:0.1026:0.2577	.	1130	P59510	ATS20_HUMAN	A	1130	ENSP00000374071:V1130A;ENSP00000448341:V1130A	ENSP00000374068:V1130A	V	-	2	0	ADAMTS20	42109787	0.102000	0.21896	0.034000	0.17996	0.034000	0.12701	1.026000	0.30103	0.879000	0.35944	0.482000	0.46254	GTA		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	broad.mit.edu	37	12	43847741	43847741	+	Missense_Mutation	SNP	C	C	T	rs143824237	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:43847741C>T	ENST00000389420.3	-	12	1728	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E577K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	577	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E577K(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTGCACTTTCGATTCCGCCT	0.413													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16287	0.001		0.0	False		,,,				2504	0.0				p.E577K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1729A	12						.						114.0	90.0	98.0					12																	43847741		2203	4300	6503	42134008	SO:0001583	missense	80070	exon12			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1729G>A	12.37:g.43847741C>T	ENSP00000374071:p.Glu577Lys		42134008	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	8	0.003663003663003663	7	0.014227642276422764	0	0.0	1	0.0017482517482517483	0	0.0	C	3.133	-0.178037	0.06380	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.50001	0.76;0.76	4.77	3.63	0.41609	.	0.382752	0.21292	N	0.076950	T	0.10508	0.0257	N	0.00885	-1.115	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.21449	-1.0245	10	0.02654	T	1	.	10.2372	0.43290	0.0:0.082:0.0:0.918	.	577	P59510	ATS20_HUMAN	K	577	ENSP00000374071:E577K;ENSP00000448341:E577K	ENSP00000374068:E577K	E	-	1	0	ADAMTS20	42134008	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.252000	0.43196	0.930000	0.37217	-0.482000	0.04802	GAA		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	broad.mit.edu	37	12	44139911	44139912	+	Missense_Mutation	DNP	TT	TT	GC			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44139911_44139912TT>GC	ENST00000416848.2	-	4	1688_1689	c.1200_1201AA>GC	c.(1198-1203)aaAAaa>aaGCaa	p.K401Q	PUS7L_ENST00000431332.3_Missense_Mutation_p.K88Q|PUS7L_ENST00000551923.1_Missense_Mutation_p.K401Q|PUS7L_ENST00000344862.5_Missense_Mutation_p.K401Q	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	401					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.K400>?(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTATTTGTTTTTTTAAATTTC	0.317																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1200_1201GC	12						.																																			42426179	SO:0001583	missense	83448	exon4			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1200_1201delinsGC	12.37:g.44139911_44139912delinsGC	ENSP00000415899:p.Lys401Gln		42426178	NM_001098615	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	DNP	ENST00000416848.2	37	CCDS8743.1																																																																																				0.317	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
PUS7L	83448	broad.mit.edu	37	12	44148436	44148436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44148436C>A	ENST00000416848.2	-	2	1101	c.613G>T	c.(613-615)Gaa>Taa	p.E205*	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Nonsense_Mutation_p.E205*|PUS7L_ENST00000553166.1_Nonsense_Mutation_p.E205*|PUS7L_ENST00000344862.5_Nonsense_Mutation_p.E205*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	205					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E205*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TGACAAAGTTCTTTATATTCA	0.303																																					p.E205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G613T	12						.						50.0	51.0	51.0					12																	44148436		2203	4299	6502	42434703	SO:0001587	stop_gained	83448	exon2			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.613G>T	12.37:g.44148436C>A	ENSP00000415899:p.Glu205*		42434703	NM_001098615	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Nonsense_Mutation	SNP	ENST00000416848.2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	41	8.579854	0.98872	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-34.3818	19.9585	0.97232	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000343081:E205X	E	-	1	0	PUS7L	42434703	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.439000	0.59968	2.894000	0.99253	0.655000	0.94253	GAA		0.303	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
IRAK4	51135	broad.mit.edu	37	12	44176112	44176112	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44176112C>A	ENST00000448290.2	+	9	1015	c.944C>A	c.(943-945)gCa>gAa	p.A315E	IRAK4_ENST00000551736.1_Missense_Mutation_p.A315E|IRAK4_ENST00000440781.2_Missense_Mutation_p.A191E|IRAK4_ENST00000431837.1_Missense_Mutation_p.A191E	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A315E(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTTTTCAGTGCAAATATCTTA	0.363																																					p.A315E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C944A	12						.						57.0	58.0	58.0					12																	44176112		2203	4300	6503	42462379	SO:0001583	missense	51135	exon9			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.944C>A	12.37:g.44176112C>A	ENSP00000390651:p.Ala315Glu		42462379	NM_016123	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124005	0.94429	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94928	0.8360	L	0.46567	1.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95174	0.8293	10	0.87932	D	0	-25.5481	19.6622	0.95877	0.0:1.0:0.0:0.0	.	315	Q9NWZ3	IRAK4_HUMAN	E	191;191;315;315	ENSP00000408734:A191E;ENSP00000390327:A191E;ENSP00000390651:A315E;ENSP00000446490:A315E	ENSP00000390327:A191E	A	+	2	0	IRAK4	42462379	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.641000	0.54360	2.637000	0.89404	0.585000	0.79938	GCA		0.363	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1		
TWF1	5756	broad.mit.edu	37	12	44189457	44189457	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44189457A>G	ENST00000395510.2	-	9	1113	c.984T>C	c.(982-984)ggT>ggC	p.G328G	TWF1_ENST00000548315.1_Silent_p.G335G|TWF1_ENST00000552521.1_Silent_p.G230G|TWF1_ENST00000325127.4_Silent_p.G362G	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	328					barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G328G(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TTCCTGCAGGACCTTTTGGTT	0.408																																					p.G362G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1086C	12						.						102.0	98.0	100.0					12																	44189457		2203	4300	6503	42475724	SO:0001819	synonymous_variant	5756	exon9			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.984T>C	12.37:g.44189457A>G			42475724	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	ENST00000395510.2	37	CCDS31780.2																																																																																				0.408	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
TWF1	5756	broad.mit.edu	37	12	44190794	44190794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44190794C>A	ENST00000395510.2	-	8	996	c.867G>T	c.(865-867)atG>atT	p.M289I	TWF1_ENST00000548315.1_Missense_Mutation_p.M296I|TWF1_ENST00000552521.1_Missense_Mutation_p.M191I|TWF1_ENST00000325127.4_Missense_Mutation_p.M323I	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	289	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.M289I(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TAATTACATCCATTTGTAGTT	0.333																																					p.M323I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	12						.						81.0	85.0	84.0					12																	44190794		2203	4299	6502	42477061	SO:0001583	missense	5756	exon8			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.867G>T	12.37:g.44190794C>A	ENSP00000378886:p.Met289Ile		42477061	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338626	0.11069	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315	T;T;T;T	0.25749	1.78;2.54;2.53;2.53	5.55	5.55	0.83447	Actin-binding, cofilin/tropomyosin type (2);	0.118606	0.85682	D	0.000000	T	0.11410	0.0278	N	0.02181	-0.65	0.50039	D	0.999846	B;B	0.06786	0.001;0.0	B;B	0.17433	0.01;0.018	T	0.19321	-1.0309	10	0.06757	T	0.87	-29.9587	19.5094	0.95135	0.0:1.0:0.0:0.0	.	296;289	Q12792-3;Q12792	.;TWF1_HUMAN	I	191;289;323;296	ENSP00000448750:M191I;ENSP00000378886:M289I;ENSP00000321058:M323I;ENSP00000449428:M296I	ENSP00000321058:M323I	M	-	3	0	TWF1	42477061	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.898000	0.39809	2.620000	0.88729	0.591000	0.81541	ATG		0.333	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
TWF1	5756	broad.mit.edu	37	12	44193279	44193279	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44193279T>G	ENST00000395510.2	-	5	534	c.405A>C	c.(403-405)aaA>aaC	p.K135N	TWF1_ENST00000547564.1_5'Flank|TWF1_ENST00000548315.1_Missense_Mutation_p.K135N|TWF1_ENST00000552521.1_Missense_Mutation_p.K37N|TWF1_ENST00000325127.4_Missense_Mutation_p.K169N	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	135	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.K135N(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCAAGTATTTTTTATATCCAT	0.353																																					p.K169N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A507C	12						.						71.0	70.0	71.0					12																	44193279		2203	4300	6503	42479546	SO:0001583	missense	5756	exon5			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.405A>C	12.37:g.44193279T>G	ENSP00000378886:p.Lys135Asn		42479546	NM_002822	A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731105	0.48939	.	.	ENSG00000151239	ENST00000552521;ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662;ENST00000548403	D;T;T;T;T;T	0.83163	-1.69;1.47;1.47;1.47;1.42;1.44	5.95	2.33	0.28932	Actin-binding, cofilin/tropomyosin type (2);	0.408692	0.31922	N	0.006846	T	0.80449	0.4625	M	0.80183	2.485	0.44149	D	0.996949	B;B	0.31730	0.101;0.337	B;B	0.33196	0.099;0.159	T	0.72896	-0.4153	10	0.44086	T	0.13	-26.8428	5.7793	0.18297	0.0:0.2003:0.1292:0.6705	.	135;135	Q12792-3;Q12792	.;TWF1_HUMAN	N	37;135;169;135;173;109	ENSP00000448750:K37N;ENSP00000378886:K135N;ENSP00000321058:K169N;ENSP00000449428:K135N;ENSP00000448221:K173N;ENSP00000446696:K109N	ENSP00000321058:K169N	K	-	3	2	TWF1	42479546	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.713000	0.25794	0.161000	0.19458	0.533000	0.62120	AAA		0.353	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
NELL2	4753	broad.mit.edu	37	12	44913950	44913950	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44913950G>A	ENST00000429094.2	-	19	2742	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	NELL2_ENST00000395487.2_Silent_p.L745L|NELL2_ENST00000551601.1_Silent_p.L698L|NELL2_ENST00000437801.2_Silent_p.L796L|NELL2_ENST00000549027.1_Silent_p.L745L|NELL2_ENST00000452445.2_Silent_p.L746L|NELL2_ENST00000333837.4_Silent_p.L769L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	746	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L746L(1)|p.L796L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CATTCTCTGGGAGAATGCTGA	0.547																																					p.L746L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2238T	12						.						80.0	67.0	71.0					12																	44913950		2203	4300	6503	43200217	SO:0001819	synonymous_variant	4753	exon19			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2238C>T	12.37:g.44913950G>A			43200217	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	CCDS8746.1																																																																																				0.547	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
NELL2	4753	broad.mit.edu	37	12	44915902	44915902	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44915902G>T	ENST00000429094.2	-	18	2560	c.2056C>A	c.(2056-2058)Ctt>Att	p.L686I	NELL2_ENST00000395487.2_Missense_Mutation_p.L685I|NELL2_ENST00000551601.1_Missense_Mutation_p.L638I|NELL2_ENST00000437801.2_Missense_Mutation_p.L736I|NELL2_ENST00000549027.1_Missense_Mutation_p.L685I|NELL2_ENST00000452445.2_Missense_Mutation_p.L686I|NELL2_ENST00000333837.4_Missense_Mutation_p.L709I	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	686	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L686I(1)|p.L736I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGCAAAAAAGATCAACTGTG	0.428																																					p.L686I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2056A	12						.						122.0	111.0	115.0					12																	44915902		2203	4300	6503	43202169	SO:0001583	missense	4753	exon18			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2056C>A	12.37:g.44915902G>T	ENSP00000390680:p.Leu686Ile		43202169	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316418	0.60524	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	D;D;T;D;D;D;D	0.82619	-1.57;-1.55;-1.25;-1.55;-1.57;-1.51;-1.63	5.7	5.7	0.88788	von Willebrand factor, type C (2);	0.063717	0.64402	D	0.000004	D	0.84124	0.5403	M	0.62723	1.935	0.49798	D	0.999824	P;D;P;P;P	0.56968	0.894;0.978;0.879;0.595;0.94	B;P;B;B;P	0.50136	0.437;0.632;0.36;0.123;0.495	T	0.81733	-0.0798	10	0.25751	T	0.34	-14.6968	14.0416	0.64678	0.0717:0.0:0.9283:0.0	.	709;736;638;686;685	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	I	685;686;638;686;685;709;736	ENSP00000378866:L685I;ENSP00000390680:L686I;ENSP00000449332:L638I;ENSP00000394612:L686I;ENSP00000447927:L685I;ENSP00000327988:L709I;ENSP00000416341:L736I	ENSP00000327988:L709I	L	-	1	0	NELL2	43202169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.482000	0.66833	2.683000	0.91414	0.650000	0.86243	CTT		0.428	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
NELL2	4753	broad.mit.edu	37	12	44917116	44917116	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:44917116A>C	ENST00000429094.2	-	17	2460	c.1956T>G	c.(1954-1956)atT>atG	p.I652M	NELL2_ENST00000395487.2_Missense_Mutation_p.I651M|NELL2_ENST00000551601.1_Missense_Mutation_p.I604M|NELL2_ENST00000437801.2_Missense_Mutation_p.I702M|NELL2_ENST00000549027.1_Missense_Mutation_p.I651M|NELL2_ENST00000452445.2_Missense_Mutation_p.I652M|NELL2_ENST00000333837.4_Missense_Mutation_p.I675M	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	652	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I652M(1)|p.I702M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCAACACCCAAATCTGACCAT	0.378																																					p.I652M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1956G	12						.						173.0	166.0	168.0					12																	44917116		2203	4300	6503	43203383	SO:0001583	missense	4753	exon17			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1956T>G	12.37:g.44917116A>C	ENSP00000390680:p.Ile652Met		43203383	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.11|19.11	3.764295|3.764295	0.69878|0.69878	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801|ENST00000550139	T;T;T;T;T;T;D|.	0.81739|.	-1.48;-1.46;-1.19;-1.46;-1.48;-1.42;-1.53|.	5.69|5.69	-5.27|-5.27	0.02763|0.02763	von Willebrand factor, type C (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45034|0.45034	0.1322|0.1322	L|L	0.41573|0.41573	1.285|1.285	0.46798|0.46798	D|D	0.9992|0.9992	D;D;D;D;D|.	0.76494|.	0.994;0.992;0.999;0.999;0.992|.	P;D;D;D;D|.	0.73708|.	0.88;0.923;0.981;0.916;0.923|.	T|T	0.43718|0.43718	-0.9374|-0.9374	10|5	0.33940|.	T|.	0.23|.	-17.6086|-17.6086	5.1665|5.1665	0.15088|0.15088	0.3015:0.1082:0.4842:0.1061|0.3015:0.1082:0.4842:0.1061	.|.	675;702;604;652;651|.	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2|.	.;.;.;NELL2_HUMAN;.|.	M|V	651;652;604;652;651;675;702|65	ENSP00000378866:I651M;ENSP00000390680:I652M;ENSP00000449332:I604M;ENSP00000394612:I652M;ENSP00000447927:I651M;ENSP00000327988:I675M;ENSP00000416341:I702M|.	ENSP00000327988:I675M|.	I|L	-|-	3|1	3|2	NELL2|NELL2	43203383|43203383	0.994000|0.994000	0.37717|0.37717	0.966000|0.966000	0.40874|0.40874	0.982000|0.982000	0.71751|0.71751	0.439000|0.439000	0.21575|0.21575	-0.827000|-0.827000	0.04278|0.04278	0.448000|0.448000	0.29417|0.29417	ATT|TTG		0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
NELL2	4753	broad.mit.edu	37	12	45097553	45097553	+	Missense_Mutation	SNP	C	C	T	rs114802162		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:45097553C>T	ENST00000429094.2	-	12	1778	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	425	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R475Q(1)|p.R425Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAAACCATCTCGACAGCTACA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15632	0.0		0.0	False		,,,				2504	0.0				p.R425Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1274A	12						.						93.0	87.0	89.0					12																	45097553		2203	4300	6503	43383820	SO:0001583	missense	4753	exon12			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1274G>A	12.37:g.45097553C>T	ENSP00000390680:p.Arg425Gln		43383820	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	15.34|15.34	2.805758|2.805758	0.50421|0.50421	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000550313|ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.|D;D;T;D;D;D;D	.|0.95622	.|-3.28;-3.28;-0.62;-3.28;-3.28;-2.2;-3.76	5.6|5.6	4.52|4.52	0.55395|0.55395	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.199086	.|0.43416	.|D	.|0.000564	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.29908|0.29908	0.895|0.895	0.46317|0.46317	D|D	0.998989|0.998989	.|B;B;B;B;B;B	.|0.22146	.|0.019;0.051;0.04;0.016;0.024;0.065	.|B;B;B;B;B;B	.|0.14578	.|0.003;0.011;0.011;0.003;0.003;0.01	D|D	0.86854|0.86854	0.2025|0.2025	5|10	.|0.16420	.|T	.|0.52	-10.4736|-10.4736	15.3805|15.3805	0.74651|0.74651	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	.|448;475;424;425;425;424	.|B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.|.;.;.;.;NELL2_HUMAN;.	K|Q	169|424;425;424;425;424;448;475;424	.|ENSP00000378866:R424Q;ENSP00000390680:R425Q;ENSP00000449332:R424Q;ENSP00000394612:R425Q;ENSP00000447927:R424Q;ENSP00000327988:R448Q;ENSP00000416341:R475Q	.|ENSP00000327988:R448Q	E|R	-|-	1|2	0|0	NELL2|NELL2	43383820|43383820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.339000|2.339000	0.43965|0.43965	2.641000|2.641000	0.89580|0.89580	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
NELL2	4753	broad.mit.edu	37	12	45171048	45171048	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:45171048G>A	ENST00000429094.2	-	6	1160	c.656C>T	c.(655-657)gCt>gTt	p.A219V	NELL2_ENST00000395487.2_Missense_Mutation_p.A218V|NELL2_ENST00000551601.1_Missense_Mutation_p.A218V|NELL2_ENST00000437801.2_Missense_Mutation_p.A269V|NELL2_ENST00000547172.1_5'Flank|NELL2_ENST00000549027.1_Missense_Mutation_p.A218V|NELL2_ENST00000452445.2_Missense_Mutation_p.A219V|NELL2_ENST00000333837.4_Missense_Mutation_p.A242V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	219	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A219V(1)|p.A269V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGGCACTGAGCAATAAATCC	0.378																																					p.A219V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C656T	12						.						137.0	129.0	132.0					12																	45171048		2203	4300	6503	43457315	SO:0001583	missense	4753	exon6			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.656C>T	12.37:g.45171048G>A	ENSP00000390680:p.Ala219Val		43457315	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573286	0.45902	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993	T;T;T;T;T;T;T;T	0.02763	4.17;4.17;4.17;4.17;4.17;4.17;4.17;4.17	5.62	2.44	0.29823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.449943	0.25792	N	0.028276	T	0.01222	0.0040	N	0.01352	-0.895	0.30565	N	0.764059	B;B;B;B;B;B	0.14012	0.0;0.009;0.007;0.0;0.003;0.005	B;B;B;B;B;B	0.14023	0.001;0.006;0.01;0.001;0.002;0.004	T	0.34030	-0.9845	10	0.30854	T	0.27	-4.7424	9.9699	0.41747	0.2477:0.0:0.7523:0.0	.	242;269;218;219;219;218	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	V	218;219;218;219;218;242;269;218;219	ENSP00000378866:A218V;ENSP00000390680:A219V;ENSP00000449332:A218V;ENSP00000394612:A219V;ENSP00000447927:A218V;ENSP00000327988:A242V;ENSP00000416341:A269V;ENSP00000447085:A219V	ENSP00000327988:A242V	A	-	2	0	NELL2	43457315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.812000	0.47994	0.556000	0.29098	0.655000	0.94253	GCT		0.378	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
ANO6	196527	broad.mit.edu	37	12	45742071	45742071	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:45742071C>A	ENST00000320560.8	+	5	808	c.606C>A	c.(604-606)ttC>ttA	p.F202L	ANO6_ENST00000425752.2_Missense_Mutation_p.F202L|ANO6_ENST00000435642.1_Missense_Mutation_p.F202L|ANO6_ENST00000423947.3_Missense_Mutation_p.F223L|ANO6_ENST00000441606.2_Missense_Mutation_p.F184L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	202					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.F202L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAGATGCTTTCTTCAATCCAG	0.418																																					p.F202L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C606A	12						.						104.0	105.0	104.0					12																	45742071		2203	4300	6503	44028338	SO:0001583	missense	196527	exon5			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.606C>A	12.37:g.45742071C>A	ENSP00000320087:p.Phe202Leu		44028338	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029431	0.54790	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.3	5.3	0.74995	.	0.048749	0.85682	D	0.000000	T	0.71239	0.3316	M	0.65498	2.005	0.58432	D	0.999998	B;B;B;P	0.43287	0.394;0.101;0.075;0.802	B;B;B;B	0.43225	0.165;0.082;0.025;0.412	T	0.73767	-0.3879	10	0.52906	T	0.07	.	13.6522	0.62318	0.0:0.9179:0.0:0.0821	.	184;223;202;202	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	L	202;223;202;202;184	ENSP00000391417:F202L;ENSP00000409126:F223L;ENSP00000413840:F202L;ENSP00000320087:F202L;ENSP00000413137:F184L	ENSP00000320087:F202L	F	+	3	2	ANO6	44028338	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	1.624000	0.37018	2.861000	0.98227	0.655000	0.94253	TTC		0.418	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
ANO6	196527	broad.mit.edu	37	12	45823010	45823010	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:45823010C>A	ENST00000320560.8	+	20	2851	c.2649C>A	c.(2647-2649)ctC>ctA	p.L883L	ANO6_ENST00000425752.2_Intron|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000423947.3_Silent_p.L904L|ANO6_ENST00000441606.2_Silent_p.L865L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	883					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.L883L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGAATCACCTCAAAGATATGA	0.373																																					p.L883L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2649A	12						.						54.0	52.0	53.0					12																	45823010		2203	4300	6503	44109277	SO:0001819	synonymous_variant	196527	exon20			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2649C>A	12.37:g.45823010C>A			44109277	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	CCDS31782.1																																																																																				0.373	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
ARID2	196528	broad.mit.edu	37	12	46215240	46215240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46215240G>A	ENST00000334344.6	+	6	847	c.675G>A	c.(673-675)tgG>tgA	p.W225*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.W76*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	225					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W225*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGAAGAATGGAAAGAGAAGA	0.279			"""N, S, F"""		hepatocellular carcinoma																																p.W225X			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G675A	12						.						70.0	76.0	74.0					12																	46215240		2203	4292	6495	44501507	SO:0001587	stop_gained	196528	exon6				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.675G>A	12.37:g.46215240G>A	ENSP00000335044:p.Trp225*		44501507	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	38	6.729098	0.97796	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.6626	19.9024	0.96993	0.0:0.0:1.0:0.0	.	.	.	.	X	225;76	.	ENSP00000335044:W225X	W	+	3	0	ARID2	44501507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.858000	0.75461	2.775000	0.95449	0.650000	0.86243	TGG		0.279	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
ARID2	196528	broad.mit.edu	37	12	46231286	46231286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46231286G>T	ENST00000334344.6	+	10	1298	c.1126G>T	c.(1126-1128)Gaa>Taa	p.E376*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.E5*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E227*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	376					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"""N, S, F"""		hepatocellular carcinoma																																p.E376X			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1126T	12						.						88.0	88.0	88.0					12																	46231286		2203	4300	6503	44517553	SO:0001587	stop_gained	196528	exon10				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1126G>T	12.37:g.46231286G>T	ENSP00000335044:p.Glu376*		44517553	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	38	6.798440	0.97845	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8766	19.024	0.92925	0.0:0.0:1.0:0.0	.	.	.	.	X	376;227;5	.	ENSP00000335044:E376X	E	+	1	0	ARID2	44517553	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	9.869000	0.99810	2.486000	0.83907	0.313000	0.20887	GAA		0.303	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
ARID2	196528	broad.mit.edu	37	12	46243461	46243461	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46243461C>A	ENST00000334344.6	+	14	1986	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.P215Q|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P456Q	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	605					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P605Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGGCTATACCACTTCCCATT	0.458			"""N, S, F"""		hepatocellular carcinoma																																p.P605Q			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1814A	12						.						318.0	289.0	299.0					12																	46243461		2203	4300	6503	44529728	SO:0001583	missense	196528	exon14				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1814C>A	12.37:g.46243461C>A	ENSP00000335044:p.Pro605Gln		44529728	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244234	0.79912	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.63255	-0.03	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74396	-0.3679	10	0.87932	D	0	-10.3507	20.2985	0.98592	0.0:1.0:0.0:0.0	.	605;605	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	Q	605;456;215	ENSP00000335044:P605Q	ENSP00000335044:P605Q	P	+	2	0	ARID2	44529728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.214000	0.77958	2.793000	0.96121	0.655000	0.94253	CCA		0.458	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
ARID2	196528	broad.mit.edu	37	12	46244929	46244929	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46244929C>A	ENST00000334344.6	+	15	3195	c.3023C>A	c.(3022-3024)tCt>tAt	p.S1008Y	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.S618Y|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S859Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1008	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1008Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAAATGTTATCTGTGAAAAGG	0.502			"""N, S, F"""		hepatocellular carcinoma																																p.S1008Y			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3023A	12						.						204.0	166.0	179.0					12																	46244929		2203	4300	6503	44531196	SO:0001583	missense	196528	exon15				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3023C>A	12.37:g.46244929C>A	ENSP00000335044:p.Ser1008Tyr		44531196	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225146	0.58668	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.49720	0.77	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.991	T	0.63184	-0.6694	10	0.87932	D	0	-10.6988	19.9335	0.97129	0.0:1.0:0.0:0.0	.	1008;618;1008	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	Y	1008;125;125;859;618	ENSP00000335044:S1008Y	ENSP00000335044:S1008Y	S	+	2	0	ARID2	44531196	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.263000	0.78421	2.722000	0.93159	0.462000	0.41574	TCT		0.502	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
ARID2	196528	broad.mit.edu	37	12	46246051	46246051	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46246051C>G	ENST00000334344.6	+	15	4317	c.4145C>G	c.(4144-4146)tCc>tGc	p.S1382C	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.S992C|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S1233C	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1382					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1382C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATAAAACTTCCAATCATGTA	0.348			"""N, S, F"""		hepatocellular carcinoma																																p.S1382C			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4145G	12						.						69.0	66.0	67.0					12																	46246051		2203	4300	6503	44532318	SO:0001583	missense	196528	exon15				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4145C>G	12.37:g.46246051C>G	ENSP00000335044:p.Ser1382Cys		44532318	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426003	0.25726	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.51071	0.72	6.07	5.17	0.71159	.	0.046027	0.85682	N	0.000000	T	0.42063	0.1186	L	0.32530	0.975	0.80722	D	1	B;B;B	0.18166	0.01;0.026;0.009	B;B;B	0.19391	0.025;0.025;0.004	T	0.24368	-1.0162	10	0.56958	D	0.05	-1.9405	17.6457	0.88148	0.0:0.8772:0.1228:0.0	.	1382;992;1382	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	C	1382;499;499;1233;992	ENSP00000335044:S1382C	ENSP00000335044:S1382C	S	+	2	0	ARID2	44532318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.559000	0.67326	1.552000	0.49463	0.655000	0.94253	TCC		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
SCAF11	9169	broad.mit.edu	37	12	46318817	46318817	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46318817A>G	ENST00000369367.3	-	12	3833	c.3600T>C	c.(3598-3600)ggT>ggC	p.G1200G	SCAF11_ENST00000419565.2_Silent_p.G1200G|SCAF11_ENST00000549162.1_Silent_p.G1008G|SCAF11_ENST00000465950.1_Silent_p.G885G|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1200					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1200G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTAGCTGAGAACCATCAACTT	0.353																																					p.G1200G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3600C	12						.						130.0	124.0	126.0					12																	46318817		2203	4300	6503	44605084	SO:0001819	synonymous_variant	9169	exon12			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3600T>C	12.37:g.46318817A>G			44605084	NM_004719	A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	CCDS8748.2																																																																																				0.353	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SLC38A1	81539	broad.mit.edu	37	12	46582775	46582775	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46582775G>A	ENST00000398637.5	-	17	2136	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	SLC38A1_ENST00000439706.1_Missense_Mutation_p.S481L|SLC38A1_ENST00000549049.1_Missense_Mutation_p.S481L|SLC38A1_ENST00000546893.1_Missense_Mutation_p.S481L	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	481					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.S481L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTCACTACTCGATGAGCAGGC	0.527																																					p.S481L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1442T	12						.						89.0	93.0	92.0					12																	46582775		1995	4187	6182	44869042	SO:0001583	missense	81539	exon17			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1442C>T	12.37:g.46582775G>A	ENSP00000381634:p.Ser481Leu		44869042	NM_001077484	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.765437	0.31228	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.33	3.34	0.38264	.	.	.	.	.	T	0.05181	0.0138	L	0.27053	0.805	0.09310	N	0.999999	B	0.18610	0.029	B	0.12156	0.007	T	0.35847	-0.9772	9	0.31617	T	0.26	1.4316	8.8779	0.35356	0.0:0.2454:0.5323:0.2223	.	481	Q9H2H9	S38A1_HUMAN	L	481	ENSP00000449607:S481L;ENSP00000398142:S481L;ENSP00000381634:S481L;ENSP00000447853:S481L	ENSP00000381634:S481L	S	-	2	0	SLC38A1	44869042	0.191000	0.23288	0.042000	0.18584	0.776000	0.43924	3.003000	0.49505	1.334000	0.45468	0.586000	0.80456	TCG		0.527	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
SLC38A1	81539	broad.mit.edu	37	12	46602843	46602843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46602843C>A	ENST00000398637.5	-	6	1076	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	SLC38A1_ENST00000552197.1_Nonsense_Mutation_p.E128*|SLC38A1_ENST00000439706.1_Nonsense_Mutation_p.E128*|SLC38A1_ENST00000549049.1_Nonsense_Mutation_p.E128*|SLC38A1_ENST00000546893.1_Nonsense_Mutation_p.E128*|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	128					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.E128*(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTACCTGTTTCTTTTGAACAG	0.323																																					p.E128X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G382T	12						.						65.0	57.0	59.0					12																	46602843		1805	4078	5883	44889110	SO:0001587	stop_gained	81539	exon6			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.382G>T	12.37:g.46602843C>A	ENSP00000381634:p.Glu128*		44889110	NM_001077484	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Nonsense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	42	9.557203	0.99204	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	.	.	.	5.71	3.86	0.44501	.	0.160447	0.43416	D	0.000569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-22.1614	12.5506	0.56223	0.0:0.8144:0.1196:0.0661	.	.	.	.	X	128	.	ENSP00000381634:E128X	E	-	1	0	SLC38A1	44889110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.103000	0.57783	1.554000	0.49487	0.650000	0.86243	GAA		0.323	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
SLC38A1	81539	broad.mit.edu	37	12	46633487	46633487	+	Missense_Mutation	SNP	C	C	T	rs75571325		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:46633487C>T	ENST00000398637.5	-	3	791	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SLC38A1_ENST00000552197.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000549633.1_Intron	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	33					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)	p.E33K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTTCTACTTCGGTGAAATCA	0.388																																					p.E33K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	12						.						161.0	149.0	153.0					12																	46633487		1876	4126	6002	44919754	SO:0001583	missense	81539	exon3			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.97G>A	12.37:g.46633487C>T	ENSP00000381634:p.Glu33Lys		44919754	NM_001077484	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607894	0.46527	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197;ENST00000550173	T;T;T;T;T	0.07216	3.37;3.37;3.37;3.37;3.21	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000048	T	0.04952	0.0133	N	0.08118	0	0.42346	D	0.992353	D;B	0.60160	0.987;0.429	P;B	0.44696	0.458;0.028	T	0.53683	-0.8404	10	0.13108	T	0.6	-19.218	11.959	0.52997	0.0:0.9201:0.0:0.0799	.	33;33	F8VX04;Q9H2H9	.;S38A1_HUMAN	K	33	ENSP00000449607:E33K;ENSP00000398142:E33K;ENSP00000381634:E33K;ENSP00000447853:E33K;ENSP00000449756:E33K	ENSP00000381634:E33K	E	-	1	0	SLC38A1	44919754	0.991000	0.36638	0.936000	0.37596	0.963000	0.63663	3.119000	0.50422	2.438000	0.82558	0.585000	0.79938	GAA		0.388	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
SLC38A4	55089	broad.mit.edu	37	12	47168838	47168838	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:47168838G>T	ENST00000447411.1	-	13	1499	c.1293C>A	c.(1291-1293)ctC>ctA	p.L431L	SLC38A4_ENST00000266579.4_Silent_p.L431L	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	431					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.L431L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTACTGGGAAGAGGACAATGG	0.408																																					p.L431L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1293A	12						.						181.0	165.0	170.0					12																	47168838		2203	4300	6503	45455105	SO:0001819	synonymous_variant	55089	exon14			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1293C>A	12.37:g.47168838G>T			45455105	NM_018018	A8K553	Silent	SNP	ENST00000447411.1	37	CCDS8750.1																																																																																				0.408	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
PCED1B	91523	broad.mit.edu	37	12	47471880	47471880	+	5'Flank	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:47471880G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.V302V|AMIGO2_ENST00000321382.3_Silent_p.V302V|AMIGO2_ENST00000266581.4_Silent_p.V302V|AMIGO2_ENST00000429635.1_Silent_p.V302V			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.V302V(1)									GTCTTTCCCCGACCTGAGCCT	0.488																																					p.V302V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	12						.						151.0	147.0	148.0					12																	47471880		2203	4300	6503	45758147	SO:0001631	upstream_gene_variant	347902	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471880G>A	Exception_encountered		45758147	NM_181847	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.488	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
PCED1B	91523	broad.mit.edu	37	12	47628897	47628897	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:47628897C>T	ENST00000546455.1	+	4	782	c.51C>T	c.(49-51)ttC>ttT	p.F17F	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.F17F			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	17							hydrolase activity (GO:0016787)	p.F17F(2)									ACAATAAGTTCGTGGTCATCC	0.592																																					p.F17F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C51T	12						.						66.0	65.0	65.0					12																	47628897		2203	4300	6503	45915164	SO:0001819	synonymous_variant	91523	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.51C>T	12.37:g.47628897C>T			45915164	NM_138371	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.592	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
RPAP3	79657	broad.mit.edu	37	12	48062853	48062853	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48062853T>G	ENST00000005386.3	-	14	1674	c.1559A>C	c.(1558-1560)cAg>cCg	p.Q520P	RPAP3_ENST00000432584.3_Missense_Mutation_p.Q361P|RPAP3_ENST00000380650.4_Missense_Mutation_p.Q486P	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	520								p.Q520P(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GCTGTAAGACTGACATACATC	0.408																																					p.Q361P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1082C	12						.						155.0	155.0	155.0					12																	48062853		2203	4300	6503	46349120	SO:0001583	missense	79657	exon13			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1559A>C	12.37:g.48062853T>G	ENSP00000005386:p.Gln520Pro		46349120	NM_001146076	B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	T	8.704	0.910471	0.17833	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.15487	2.83;2.42;2.87	5.9	4.76	0.60689	.	1.982520	0.02035	N	0.048895	T	0.23249	0.0562	L	0.60455	1.87	0.30603	N	0.760336	B;B	0.19445	0.028;0.036	B;B	0.18561	0.022;0.022	T	0.23904	-1.0175	10	0.52906	T	0.07	.	7.4042	0.26981	0.0:0.0758:0.1442:0.78	.	486;520	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	P	520;361;486	ENSP00000005386:Q520P;ENSP00000401823:Q361P;ENSP00000370024:Q486P	ENSP00000005386:Q520P	Q	-	2	0	RPAP3	46349120	1.000000	0.71417	0.478000	0.27316	0.235000	0.25334	1.854000	0.39368	1.064000	0.40671	0.523000	0.50628	CAG		0.408	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604	
RPAP3	79657	broad.mit.edu	37	12	48096599	48096599	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48096599C>T	ENST00000005386.3	-	2	140	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Missense_Mutation_p.E9K	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	9								p.E9K(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGTTGTAATTCGATTGCTTTA	0.338																																					p.E9K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	12						.						163.0	143.0	150.0					12																	48096599		2202	4298	6500	46382866	SO:0001583	missense	79657	exon2			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.25G>A	12.37:g.48096599C>T	ENSP00000005386:p.Glu9Lys		46382866	NM_001146075	B4DRW9|Q6PHR5	Missense_Mutation	SNP	ENST00000005386.3	37	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466317	0.84425	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	T;T	0.62498	0.02;0.02	5.12	5.12	0.69794	.	0.700302	0.14566	N	0.311741	T	0.78117	0.4233	M	0.64676	1.99	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.74674	0.96;0.984	T	0.78578	-0.2150	10	0.72032	D	0.01	.	17.9142	0.88944	0.0:1.0:0.0:0.0	.	9;9	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	K	9	ENSP00000005386:E9K;ENSP00000370024:E9K	ENSP00000005386:E9K	E	-	1	0	RPAP3	46382866	1.000000	0.71417	0.960000	0.40013	0.482000	0.33219	7.102000	0.77005	2.527000	0.85204	0.650000	0.86243	GAA		0.338	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604	
RAPGEF3	10411	broad.mit.edu	37	12	48134163	48134163	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48134163C>A	ENST00000449771.2	-	22	2335	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.K707N|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.K749N|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.K707N|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.K707N|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	749	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.K707N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AATTGAGATTCTTCTGCTCCT	0.597																																					p.K707N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2121T	12						.						59.0	57.0	58.0					12																	48134163		2203	4300	6503	46420430	SO:0001583	missense	10411	exon21			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2247G>T	12.37:g.48134163C>A	ENSP00000395708:p.Lys749Asn		46420430	NM_001098532	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308953	0.81247	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	4.42	4.42	0.53409	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.055984	0.64402	D	0.000002	T	0.24122	0.0584	N	0.11106	0.095	0.49687	D	0.99981	D	0.52996	0.957	P	0.57057	0.812	T	0.04373	-1.0956	10	0.87932	D	0	.	9.9112	0.41406	0.0:0.9055:0.0:0.0945	.	749	O95398	RPGF3_HUMAN	N	707;749;396;707;707;707;749	ENSP00000384521:K707N;ENSP00000395708:K749N;ENSP00000448619:K707N;ENSP00000171000:K707N;ENSP00000373864:K749N	ENSP00000171000:K707N	K	-	3	2	RAPGEF3	46420430	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.310000	0.19356	2.476000	0.83614	0.650000	0.86243	AAG		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105	
COL2A1	1280	broad.mit.edu	37	12	48371108	48371108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48371108C>A	ENST00000380518.3	-	46	3432	c.3268G>T	c.(3268-3270)Gaa>Taa	p.E1090*	COL2A1_ENST00000337299.6_Nonsense_Mutation_p.E1021*|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1090	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E1021*(1)|p.E1090*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTACAGCTTCTCCTCTGTCT	0.622																																					p.E1021X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3061T	12						.						71.0	83.0	79.0					12																	48371108		2203	4300	6503	46657375	SO:0001587	stop_gained	1280	exon45			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3268G>T	12.37:g.48371108C>A	ENSP00000369889:p.Glu1090*		46657375	NM_033150	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Nonsense_Mutation	SNP	ENST00000380518.3	37	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	44	11.172230	0.99526	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.2304	0.89933	0.0:1.0:0.0:0.0	.	.	.	.	X	1090;1021;1021	.	ENSP00000338213:E1021X	E	-	1	0	COL2A1	46657375	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.917000	0.63369	2.401000	0.81631	0.563000	0.77884	GAA		0.622	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
COL2A1	1280	broad.mit.edu	37	12	48393715	48393715	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48393715G>A	ENST00000380518.3	-	2	443	c.279C>T	c.(277-279)ctC>ctT	p.L93L	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	93					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.L93L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCAGTGGCGAGGTCAGTTG	0.498																																					p.L93L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	12						.						70.0	77.0	75.0					12																	48393715		2060	4205	6265	46679982	SO:0001819	synonymous_variant	1280	exon2			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.279C>T	12.37:g.48393715G>A			46679982	NM_001844	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	CCDS41778.1																																																																																				0.498	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
SENP1	29843	broad.mit.edu	37	12	48468157	48468157	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48468157G>T	ENST00000004980.5	-	8	1368	c.890C>A	c.(889-891)tCt>tAt	p.S297Y	SENP1_ENST00000549595.1_Missense_Mutation_p.S297Y|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.S297Y|SENP1_ENST00000551330.1_Missense_Mutation_p.S297Y|SENP1_ENST00000549518.1_Missense_Mutation_p.S297Y			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	297	His-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.S297Y(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATGTGGAACAGAGTGGTGATG	0.393																																					p.S297Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890A	12						.						189.0	184.0	186.0					12																	48468157		1983	4162	6145	46754424	SO:0001583	missense	29843	exon8			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.890C>A	12.37:g.48468157G>T	ENSP00000004980:p.Ser297Tyr		46754424	NM_014554	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045542	0.19748	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.14	3.22	0.36961	.	0.649356	0.14034	N	0.345887	T	0.08891	0.0220	N	0.14661	0.345	0.09310	N	0.999998	P;P	0.37276	0.454;0.589	B;B	0.34931	0.094;0.192	T	0.16748	-1.0392	10	0.08599	T	0.76	-0.0189	11.8125	0.52192	0.0:0.3394:0.6606:0.0	.	297;297	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	Y	297	ENSP00000004980:S297Y;ENSP00000394791:S297Y;ENSP00000446681:S297Y;ENSP00000450076:S297Y;ENSP00000447328:S297Y	ENSP00000004980:S297Y	S	-	2	0	SENP1	46754424	0.997000	0.39634	0.076000	0.20297	0.936000	0.57629	2.804000	0.47931	1.066000	0.40716	0.655000	0.94253	TCT		0.393	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
SENP1	29843	broad.mit.edu	37	12	48501166	48501166	+	5'Flank	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48501166G>T	ENST00000004980.5	-	0	0				SENP1_ENST00000551330.1_5'Flank|SENP1_ENST00000339976.6_5'Flank|SENP1_ENST00000549518.1_5'Flank|SENP1_ENST00000448372.1_5'Flank|PFKM_ENST00000340802.6_Missense_Mutation_p.D4Y			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CATGCATAAAGACGAGTTTCA	0.443																																					p.D4Y												.	.	0			c.G10T	12						.						198.0	173.0	181.0					12																	48501166		1568	3582	5150	46787433	SO:0001631	upstream_gene_variant	5213	exon2			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896		12.37:g.48501166G>T	Exception_encountered		46787433	NM_001166686	A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989061	0.35131	.	.	ENSG00000152556	ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288	T;D;D;D	0.89123	-1.49;-2.44;-2.47;-2.46	3.92	-0.986	0.10252	.	0.904422	0.09104	N	0.848059	T	0.74261	0.3693	N	0.08118	0	0.80722	D	1	B	0.32876	0.388	B	0.28011	0.085	T	0.60535	-0.7244	10	0.56958	D	0.05	-0.3606	7.1759	0.25744	0.5415:0.0:0.4585:0.0	.	4	Q6ZTT1	.	Y	4	ENSP00000345771:D4Y;ENSP00000449622:D4Y;ENSP00000448940:D4Y;ENSP00000448018:D4Y	ENSP00000345771:D4Y	D	+	1	0	PFKM	46787433	0.829000	0.29322	0.843000	0.33291	0.544000	0.35116	0.128000	0.15810	-0.205000	0.10219	-0.218000	0.12543	GAC		0.443	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
PFKM	5213	broad.mit.edu	37	12	48528785	48528785	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48528785G>T	ENST00000312352.7	+	9	846	c.807G>T	c.(805-807)aaG>aaT	p.K269N	PFKM_ENST00000359794.5_Missense_Mutation_p.K269N|PFKM_ENST00000547587.1_Missense_Mutation_p.K269N|PFKM_ENST00000551804.1_Missense_Mutation_p.K269N|PFKM_ENST00000340802.6_Missense_Mutation_p.K340N|PFKM_ENST00000395233.2_Missense_Mutation_p.K269N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	269	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.K269N(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAATTGACAAGAATGGAAAAC	0.458																																					p.K340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1020T	12						.						119.0	113.0	115.0					12																	48528785		2203	4300	6503	46815052	SO:0001583	missense	5213	exon11			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.807G>T	12.37:g.48528785G>T	ENSP00000309438:p.Lys269Asn		46815052	NM_001166686	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307311	0.40795	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.64	0.778	0.18543	Phosphofructokinase domain (2);	0.515072	0.20312	N	0.094814	T	0.68641	0.3023	N	0.17674	0.51	0.30275	N	0.79191	B;B;B	0.33266	0.143;0.173;0.404	B;B;B	0.38755	0.098;0.158;0.281	T	0.65524	-0.6147	10	0.46703	T	0.11	-6.5557	10.5991	0.45356	0.2613:0.0:0.7387:0.0	.	269;269;340	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	N	340;269;269;269;269;269	ENSP00000345771:K340N;ENSP00000352842:K269N;ENSP00000378656:K269N;ENSP00000448177:K269N;ENSP00000449426:K269N;ENSP00000309438:K269N	ENSP00000309438:K269N	K	+	3	2	PFKM	46815052	0.000000	0.05858	0.394000	0.26270	0.852000	0.48524	0.340000	0.19892	0.136000	0.18733	0.650000	0.86243	AAG		0.458	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
PFKM	5213	broad.mit.edu	37	12	48535535	48535535	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48535535G>T	ENST00000312352.7	+	16	1464	c.1425G>T	c.(1423-1425)aaG>aaT	p.K475N	PFKM_ENST00000359794.5_Missense_Mutation_p.K475N|PFKM_ENST00000547587.1_Missense_Mutation_p.K475N|PFKM_ENST00000551804.1_Missense_Mutation_p.K444N|PFKM_ENST00000340802.6_Missense_Mutation_p.K546N|PFKM_ENST00000395233.2_Missense_Mutation_p.K444N	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	475	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.K475N(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTCTACCCAAGAAGAGCTTTG	0.473																																					p.K546N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1638T	12						.						155.0	161.0	159.0					12																	48535535		2203	4300	6503	46821802	SO:0001583	missense	5213	exon18			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1425G>T	12.37:g.48535535G>T	ENSP00000309438:p.Lys475Asn		46821802	NM_001166686	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532771	0.27387	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.97	4.04	0.47022	Phosphofructokinase domain (2);	0.261911	0.44483	D	0.000443	T	0.49081	0.1536	N	0.02181	-0.65	0.50467	D	0.99987	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.23716	0.003;0.006;0.048	T	0.43507	-0.9387	10	0.30854	T	0.27	-9.4898	12.0229	0.53354	0.0899:0.0:0.9101:0.0	.	444;475;546	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	N	546;475;444;444;475;475;90	ENSP00000345771:K546N;ENSP00000352842:K475N;ENSP00000378656:K444N;ENSP00000448177:K444N;ENSP00000449426:K475N;ENSP00000309438:K475N;ENSP00000446519:K90N	ENSP00000309438:K475N	K	+	3	2	PFKM	46821802	0.962000	0.33011	1.000000	0.80357	0.989000	0.77384	0.403000	0.20982	1.385000	0.46445	0.563000	0.77884	AAG		0.473	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
OR10AD1	121275	broad.mit.edu	37	12	48596302	48596302	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48596302G>T	ENST00000310248.2	-	1	868	c.774C>A	c.(772-774)ttC>ttA	p.F258L		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F258L(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TCATGTAAGAGAACATAGCTG	0.498																																					p.F258L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C774A	12						.						84.0	86.0	85.0					12																	48596302		2203	4300	6503	46882569	SO:0001583	missense	121275	exon1				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.774C>A	12.37:g.48596302G>T	ENSP00000308689:p.Phe258Leu		46882569	NM_001004134	B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417858	0.42918	.	.	ENSG00000172640	ENST00000310248	T	0.00241	8.46	4.69	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41001	D	0.000968	T	0.00178	0.0005	M	0.66378	2.025	0.28162	N	0.928958	B	0.25007	0.116	B	0.22601	0.04	T	0.22347	-1.0219	10	0.46703	T	0.11	-37.9722	6.3856	0.21559	0.311:0.0:0.689:0.0	.	258	Q8NGE0	O10AD_HUMAN	L	258	ENSP00000308689:F258L	ENSP00000308689:F258L	F	-	3	2	OR10AD1	46882569	0.447000	0.25673	1.000000	0.80357	0.962000	0.63368	0.401000	0.20948	0.660000	0.30964	0.561000	0.74099	TTC		0.498	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1		
H1FNT	341567	broad.mit.edu	37	12	48723339	48723339	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:48723339G>A	ENST00000335017.1	+	1	577	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	89					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.E89K(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGCCGGCTACGAAGTGCGCAG	0.667																																					p.E89K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	12						.						20.0	24.0	23.0					12																	48723339		2200	4299	6499	47009606	SO:0001583	missense	341567	exon1			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.265G>A	12.37:g.48723339G>A	ENSP00000334805:p.Glu89Lys		47009606	NM_181788	Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768323	0.90020	.	.	ENSG00000187166	ENST00000335017	T	0.20069	2.1	5.39	-6.04	0.02178	.	.	.	.	.	T	0.18841	0.0452	L	0.52573	1.65	0.24824	N	0.992569	D	0.53885	0.963	B	0.42030	0.373	T	0.38394	-0.9663	9	0.87932	D	0	-7.1868	13.346	0.60573	0.1363:0.6025:0.2612:0.0	.	89	Q75WM6	H1FNT_HUMAN	K	89	ENSP00000334805:E89K	ENSP00000334805:E89K	E	+	1	0	H1FNT	47009606	1.000000	0.71417	0.288000	0.24862	0.975000	0.68041	0.999000	0.29757	-0.665000	0.05317	0.650000	0.86243	GAA		0.667	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788	
CCDC65	85478	broad.mit.edu	37	12	49298245	49298245	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49298245C>A	ENST00000320516.4	+	1	314	c.126C>A	c.(124-126)ttC>ttA	p.F42L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.F42L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	42								p.F42L(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCAGCCAGTTCTTGAAGGTGA	0.552																																					p.F42L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C126A	12						.						109.0	124.0	119.0					12																	49298245		2203	4300	6503	47584512	SO:0001583	missense	85478	exon1				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.126C>A	12.37:g.49298245C>A	ENSP00000312706:p.Phe42Leu		47584512	NM_033124	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129755	0.77549	.	.	ENSG00000139537	ENST00000266984;ENST00000552942;ENST00000320516	T;T;T	0.48522	1.54;0.81;1.55	5.06	5.06	0.68205	.	0.057305	0.64402	D	0.000001	T	0.55369	0.1916	L	0.55103	1.725	0.44880	D	0.997894	D	0.69078	0.997	D	0.63957	0.92	T	0.45323	-0.9269	10	0.10636	T	0.68	-12.1964	11.2037	0.48756	0.0:0.9149:0.0:0.0851	.	42	Q8IXS2	CCD65_HUMAN	L	42	ENSP00000266984:F42L;ENSP00000446569:F42L;ENSP00000312706:F42L	ENSP00000266984:F42L	F	+	3	2	CCDC65	47584512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.694000	0.54742	2.808000	0.96608	0.655000	0.94253	TTC		0.552	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124	
CCDC65	85478	broad.mit.edu	37	12	49310836	49310836	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49310836C>A	ENST00000320516.4	+	4	742	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Missense_Mutation_p.S185Y	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	185								p.S185Y(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TATATAGATTCTGAGTATGAA	0.428																																					p.S185Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554A	12						.						107.0	96.0	100.0					12																	49310836		2203	4300	6503	47597103	SO:0001583	missense	85478	exon4				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.554C>A	12.37:g.49310836C>A	ENSP00000312706:p.Ser185Tyr		47597103	NM_033124	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.806052	0.50421	.	.	ENSG00000139537	ENST00000266984;ENST00000320516	T;T	0.02525	4.26;4.26	5.22	4.34	0.51931	.	0.735545	0.13661	N	0.371611	T	0.05227	0.0139	L	0.56769	1.78	0.30351	N	0.784736	P	0.46220	0.874	B	0.44224	0.444	T	0.10497	-1.0627	10	0.59425	D	0.04	-1.4545	7.9324	0.29909	0.0:0.656:0.2594:0.0846	.	185	Q8IXS2	CCD65_HUMAN	Y	185	ENSP00000266984:S185Y;ENSP00000312706:S185Y	ENSP00000266984:S185Y	S	+	2	0	CCDC65	47597103	0.000000	0.05858	0.192000	0.23308	0.996000	0.88848	0.393000	0.20817	1.593000	0.50029	0.655000	0.94253	TCT		0.428	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124	
FKBP11	51303	broad.mit.edu	37	12	49317628	49317628	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49317628G>A	ENST00000550765.1	-	5	723	c.325C>T	c.(325-327)Cga>Tga	p.R109*	RP11-302B13.5_ENST00000398092.4_Intron|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000453172.2_Nonsense_Mutation_p.R109*|FKBP11_ENST00000444214.2_Nonsense_Mutation_p.R7*|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Nonsense_Mutation_p.R109*	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	109	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R109*(1)		kidney(1)|large_intestine(3)|lung(1)	5						ATTGCCCTTCGCTTCTCTCTG	0.522																																					p.R109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C325T	12						.						135.0	116.0	122.0					12																	49317628		2203	4300	6503	47603895	SO:0001587	stop_gained	51303	exon5			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.325C>T	12.37:g.49317628G>A	ENSP00000449751:p.Arg109*		47603895	NM_001143782	B4DWB7	Nonsense_Mutation	SNP	ENST00000550765.1	37	CCDS8773.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382216	0.82792	.	.	ENSG00000134285	ENST00000444214;ENST00000550765;ENST00000552878;ENST00000453172	.	.	.	5.16	4.26	0.50523	.	0.114128	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4339	14.3998	0.67034	0.0:0.0:0.8512:0.1488	.	.	.	.	X	7;109;109;109	.	ENSP00000412403:R7X	R	-	1	2	FKBP11	47603895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.884000	0.48562	1.282000	0.44496	0.650000	0.86243	CGA		0.522	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408927.1	NM_016594	
WNT10B	7480	broad.mit.edu	37	12	49362094	49362094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49362094C>A	ENST00000301061.4	-	4	694	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	WNT10B_ENST00000407467.1_Nonsense_Mutation_p.E116*|WNT10B_ENST00000403957.1_Nonsense_Mutation_p.E116*	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	116					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.E116*(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AAAGCACTTTCTCGGAAACCT	0.572																																					p.E116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G346T	12						.						62.0	58.0	59.0					12																	49362094		2203	4300	6503	47648361	SO:0001587	stop_gained	7480	exon4			X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.346G>T	12.37:g.49362094C>A	ENSP00000301061:p.Glu116*		47648361	NM_003394	B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Nonsense_Mutation	SNP	ENST00000301061.4	37	CCDS8775.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.275783|5.275783	0.95459|0.95459	.|.	.|.	ENSG00000169884|ENSG00000169884	ENST00000413630|ENST00000301061;ENST00000407467;ENST00000403957	T|.	0.78924|.	-1.22|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.76898|.	0.4052|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80854|.	-0.1196|.	6|.	0.35671|0.87932	T|D	0.21|0	.|.	17.4835|17.4835	0.87680|0.87680	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	127|116	ENSP00000398473:E127D|.	ENSP00000398473:E127D|ENSP00000301061:E116X	E|E	-|-	3|1	2|0	WNT10B|WNT10B	47648361|47648361	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.959000|0.959000	0.62525|0.62525	7.783000|7.783000	0.85696|0.85696	2.504000|2.504000	0.84457|0.84457	0.491000|0.491000	0.48974|0.48974	GAG|GAA		0.572	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394	
DHH	50846	broad.mit.edu	37	12	49488038	49488038	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49488038G>T	ENST00000266991.2	-	1	564	c.258C>A	c.(256-258)atC>atA	p.I86I	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	86					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.I86I(1)		breast(1)|large_intestine(3)|lung(4)	8						CATCCTTGAAGATGATGTCGG	0.667																																					p.I86I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258A	12						.						84.0	83.0	84.0					12																	49488038		2203	4300	6503	47774305	SO:0001819	synonymous_variant	50846	exon1			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.258C>A	12.37:g.49488038G>T			47774305	NM_021044	Q15794	Silent	SNP	ENST00000266991.2	37	CCDS8779.1																																																																																				0.667	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044	
TUBA1B	10376	broad.mit.edu	37	12	49523033	49523033	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49523033G>A	ENST00000336023.5	-	3	461	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	123					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R123C(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						ACCAGCTTGCGAATTCGGTCC	0.468																																					p.R123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367T	12						.						162.0	148.0	153.0					12																	49523033		2203	4300	6503	47809300	SO:0001583	missense	10376	exon3			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.367C>T	12.37:g.49523033G>A	ENSP00000336799:p.Arg123Cys		47809300	NM_006082	P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	13.46	2.244498	0.39697	.	.	ENSG00000123416	ENST00000336023;ENST00000550367	T;T	0.73789	-0.78;-0.78	4.59	4.59	0.56863	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.45867	U	0.000336	D	0.88916	0.6567	H	0.98218	4.175	0.80722	D	1	D	0.69078	0.997	P	0.58130	0.833	D	0.92146	0.5724	10	0.72032	D	0.01	.	12.0702	0.53611	0.0:0.0:0.8269:0.1731	.	123	P68363	TBA1B_HUMAN	C	123	ENSP00000336799:R123C;ENSP00000449325:R123C	ENSP00000336799:R123C	R	-	1	0	TUBA1B	47809300	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.416000	0.66417	2.115000	0.64714	0.558000	0.71614	CGC		0.468	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082	
TUBA1C	84790	broad.mit.edu	37	12	49666312	49666312	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49666312G>A	ENST00000301072.6	+	4	927	c.652G>A	c.(652-654)Gat>Aat	p.D218N	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.D288N	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	218					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D218N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TAGAAACCTCGATATCGAGCG	0.498																																					p.D218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	12						.						12.0	18.0	16.0					12																	49666312		2168	4266	6434	47952579	SO:0001583	missense	84790	exon4			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.652G>A	12.37:g.49666312G>A	ENSP00000301072:p.Asp218Asn		47952579	NM_032704		Missense_Mutation	SNP	ENST00000301072.6	37	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792532	0.31685	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	T;T	0.69435	-0.4;-0.4	4.63	3.71	0.42584	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000001	T	0.57110	0.2031	L	0.33093	0.98	0.80722	D	1	B;B	0.15719	0.014;0.004	B;B	0.21360	0.034;0.011	T	0.57957	-0.7721	10	0.72032	D	0.01	.	14.1653	0.65473	0.0:0.1522:0.8478:0.0	.	288;218	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	N	288;218	ENSP00000443475:D288N;ENSP00000301072:D218N	ENSP00000301072:D218N	D	+	1	0	TUBA1C	47952579	1.000000	0.71417	0.399000	0.26333	0.969000	0.65631	6.345000	0.72995	1.220000	0.43490	0.549000	0.68633	GAT		0.498	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704	
KCNH3	23416	broad.mit.edu	37	12	49948260	49948260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49948260G>A	ENST00000257981.6	+	11	2319	c.2059G>A	c.(2059-2061)Gag>Aag	p.E687K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	687					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E687K(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGTACCCCGAGTTTGCCCC	0.632																																					p.E687K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2059A	12						.						61.0	60.0	60.0					12																	49948260		2203	4300	6503	48234527	SO:0001583	missense	23416	exon11			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2059G>A	12.37:g.49948260G>A	ENSP00000257981:p.Glu687Lys		48234527	NM_012284	Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526473	0.96431	.	.	ENSG00000135519	ENST00000257981	D	0.96940	-4.18	4.81	4.81	0.61882	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.47455	D	0.000230	D	0.95639	0.8582	M	0.85462	2.755	0.58432	D	0.999999	P	0.40515	0.719	B	0.34093	0.175	D	0.96485	0.9359	10	0.72032	D	0.01	.	16.1975	0.82042	0.0:0.0:1.0:0.0	.	687	Q9ULD8	KCNH3_HUMAN	K	687	ENSP00000257981:E687K	ENSP00000257981:E687K	E	+	1	0	KCNH3	48234527	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.789000	0.99068	2.628000	0.89032	0.563000	0.77884	GAG		0.632	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284	
FAM186B	84070	broad.mit.edu	37	12	49993495	49993495	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49993495C>T	ENST00000257894.2	-	4	2089	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	FAM186B_ENST00000544141.1_Missense_Mutation_p.R553Q|FAM186B_ENST00000551047.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	643						protein complex (GO:0043234)		p.R643Q(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCAGCCTTCGGATGGATGT	0.532																																					p.R643Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1928A	12						.						79.0	73.0	75.0					12																	49993495		2203	4300	6503	48279762	SO:0001583	missense	84070	exon4			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1928G>A	12.37:g.49993495C>T	ENSP00000257894:p.Arg643Gln		48279762	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111269	0.20714	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.12147	2.71;2.71;2.91	4.73	-1.54	0.08584	.	1.189380	0.06442	N	0.726104	T	0.04272	0.0118	N	0.03115	-0.41	0.09310	N	1	B;B	0.25351	0.124;0.028	B;B	0.14578	0.011;0.008	T	0.38650	-0.9651	9	.	.	.	-0.1014	0.8277	0.01124	0.16:0.3474:0.1566:0.336	.	553;643	B4DZ15;Q8IYM0	.;F186B_HUMAN	Q	553;256;643	ENSP00000438569:R553Q;ENSP00000436995:R256Q;ENSP00000257894:R643Q	.	R	-	2	0	FAM186B	48279762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.406000	0.07187	-0.082000	0.12640	-0.812000	0.03155	CGA		0.532	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130	
FAM186B	84070	broad.mit.edu	37	12	49994866	49994866	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:49994866G>T	ENST00000257894.2	-	4	718	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	FAM186B_ENST00000544141.1_Missense_Mutation_p.S96Y|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.S186Y	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	186						protein complex (GO:0043234)		p.S186Y(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGGATGGAGATGTCTGTGG	0.557																																					p.S186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557A	12						.						112.0	76.0	88.0					12																	49994866		2203	4300	6503	48281133	SO:0001583	missense	84070	exon4			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.557C>A	12.37:g.49994866G>T	ENSP00000257894:p.Ser186Tyr		48281133	NM_032130	B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451066	0.43531	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.48201	2.62;0.82;2.82	4.98	0.906	0.19314	.	1.248190	0.05817	N	0.615076	T	0.48484	0.1502	L	0.44542	1.39	0.09310	N	1	D;D	0.54207	0.965;0.965	P;P	0.54312	0.748;0.748	T	0.27331	-1.0077	9	.	.	.	1.5783	1.9535	0.03371	0.1796:0.1508:0.5031:0.1665	.	96;186	B4DZ15;Q8IYM0	.;F186B_HUMAN	Y	96;186;186	ENSP00000438569:S96Y;ENSP00000448656:S186Y;ENSP00000257894:S186Y	.	S	-	2	0	FAM186B	48281133	0.013000	0.17824	0.000000	0.03702	0.010000	0.07245	1.489000	0.35562	-0.023000	0.13963	-0.312000	0.09012	TCT		0.557	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130	
PRPF40B	25766	broad.mit.edu	37	12	50031567	50031567	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50031567G>A	ENST00000380281.1	+	17	1725	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	PRPF40B_ENST00000261897.1_Missense_Mutation_p.R548Q|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R576Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	554	FF 5.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.R554Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TTGAAGGCACGATTCCATGAT	0.552																																					p.R554Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1661A	12						.						120.0	109.0	113.0					12																	50031567		2203	4300	6503	48317834	SO:0001583	missense	25766	exon17			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1661G>A	12.37:g.50031567G>A	ENSP00000369634:p.Arg554Gln		48317834	NM_001031698	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.049508	0.93740	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.22539	1.96;1.95	4.98	4.98	0.66077	.	0.106734	0.38720	N	0.001594	T	0.31420	0.0796	M	0.67517	2.055	0.80722	D	1	P;P;P	0.50272	0.791;0.733;0.933	B;B;P	0.46253	0.312;0.329;0.509	T	0.03503	-1.1030	9	.	.	.	-6.1859	17.5414	0.87849	0.0:0.0:1.0:0.0	.	554;548;554	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	548;554	ENSP00000261897:R548Q;ENSP00000369634:R554Q	.	R	+	2	0	PRPF40B	48317834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.298000	0.96132	2.753000	0.94483	0.655000	0.94253	CGA		0.552	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272	
FMNL3	91010	broad.mit.edu	37	12	50062278	50062278	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50062278C>A	ENST00000293590.5	-	2	419	c.186G>T	c.(184-186)aaG>aaT	p.K62N	FMNL3_ENST00000352151.5_Missense_Mutation_p.K62N|FMNL3_ENST00000550488.1_Missense_Mutation_p.K62N|FMNL3_ENST00000335154.5_Missense_Mutation_p.K62N			Q8IVF7	FMNL3_HUMAN	formin-like 3	62	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.K62N(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GATCCCATTTCTTCTCATTGT	0.552																																					p.K62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G186T	12						.						158.0	160.0	159.0					12																	50062278		1906	4126	6032	48348545	SO:0001583	missense	91010	exon2			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.186G>T	12.37:g.50062278C>A	ENSP00000293590:p.Lys62Asn		48348545	NM_175736	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	32	5.110384	0.94292	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590;ENST00000550424	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.41	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.99	D	0.96567	0.9420	10	0.87932	D	0	.	18.6701	0.91507	0.0:1.0:0.0:0.0	.	62;62	Q8IVF7-2;Q8IVF7-3	.;.	N	62;62;62;62;31	ENSP00000335655:K62N;ENSP00000447479:K62N;ENSP00000344311:K62N;ENSP00000293590:K62N;ENSP00000448939:K31N	ENSP00000293590:K62N	K	-	3	2	FMNL3	48348545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.843000	0.55865	2.882000	0.98803	0.655000	0.94253	AAG		0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
NCKAP5L	57701	broad.mit.edu	37	12	50190423	50190423	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50190423C>A	ENST00000335999.6	-	8	1421	c.1220G>T	c.(1219-1221)aGc>aTc	p.S407I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	403	Pro-rich.							p.S407I(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CATGAACATGCTAAGGAAGGG	0.637																																					p.S407I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1220T	12						.						18.0	20.0	19.0					12																	50190423		1838	4049	5887	48476690	SO:0001583	missense	57701	exon8			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.1220G>T	12.37:g.50190423C>A	ENSP00000337998:p.Ser407Ile		48476690	NM_001037806	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.940094|1.940094	0.34283|0.34283	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.54279|.	0.58|.	4.25|4.25	4.25|4.25	0.50352|0.50352	.|.	0.000000|.	0.50627|.	D|.	0.000117|.	T|.	0.33933|.	0.0880|.	N|N	0.08118|0.08118	0|0	0.33787|0.33787	D|D	0.625003|0.625003	D|.	0.64830|.	0.994|.	P|.	0.62649|.	0.905|.	T|.	0.45279|.	-0.9272|.	10|.	0.87932|.	D|.	0|.	-14.3536|-14.3536	15.8311|15.8311	0.78752|0.78752	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	403|.	E2QRB5|.	.|.	I|Y	407;403|121	ENSP00000337998:S407I|.	ENSP00000337998:S407I|.	S|X	-|-	2|3	0|2	NCKAP5L|NCKAP5L	48476690|48476690	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.306000|0.306000	0.27790|0.27790	2.812000|2.812000	0.47994|0.47994	2.102000|2.102000	0.63906|0.63906	0.561000|0.561000	0.74099|0.74099	AGC|TAG		0.637	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
BCDIN3D	144233	broad.mit.edu	37	12	50232726	50232726	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50232726C>A	ENST00000333924.4	-	2	348	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	103	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.E103*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AGACGGAATTCTCTTGAGGCA	0.488											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	12						.						87.0	83.0	84.0					12																	50232726		2203	4300	6503	48518993	SO:0001587	stop_gained	144233	exon2				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.307G>T	12.37:g.50232726C>A	ENSP00000335201:p.Glu103*	968	48518993	NM_181708	A8K829	Nonsense_Mutation	SNP	ENST00000333924.4	37	CCDS8790.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424409	0.83667	.	.	ENSG00000186666	ENST00000333924	.	.	.	5.37	4.48	0.54585	.	0.302658	0.40818	N	0.001016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	11.9233	0.52803	0.0:0.9149:0.0:0.0851	.	.	.	.	X	103	.	ENSP00000335201:E103X	E	-	1	0	BCDIN3D	48518993	0.622000	0.27085	0.985000	0.45067	0.990000	0.78478	1.522000	0.35921	1.395000	0.46643	0.591000	0.81541	GAA		0.488	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	
SMARCD1	6602	broad.mit.edu	37	12	50480578	50480578	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50480578C>A	ENST00000394963.4	+	4	846	c.448C>A	c.(448-450)Ctc>Atc	p.L150I	SMARCD1_ENST00000381513.4_Missense_Mutation_p.L150I|SMARCD1_ENST00000548573.1_5'Flank	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.L111I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CTATATGGATCTCTTGGCTTT	0.418																																					p.L150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448A	12						.						105.0	102.0	103.0					12																	50480578		2203	4300	6503	48766845	SO:0001583	missense	6602	exon4			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.448C>A	12.37:g.50480578C>A	ENSP00000378414:p.Leu150Ile		48766845	NM_139071		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055921	0.76074	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.88704	2.975	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.995	D;D;D	0.91635	0.999;0.966;0.968	T	0.82028	-0.0660	10	0.87932	D	0	-11.4566	13.5587	0.61775	0.0:0.9257:0.0:0.0743	.	150;150;150	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	I	150;150;150;150;88	ENSP00000378414:L150I;ENSP00000370924:L150I;ENSP00000447386:L150I;ENSP00000448030:L150I;ENSP00000449825:L88I	ENSP00000370924:L150I	L	+	1	0	SMARCD1	48766845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.522000	0.45572	2.873000	0.98535	0.561000	0.74099	CTC		0.418	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	
SMARCD1	6602	broad.mit.edu	37	12	50481162	50481162	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50481162G>A	ENST00000394963.4	+	5	946	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SMARCD1_ENST00000381513.4_Missense_Mutation_p.R183Q|SMARCD1_ENST00000548573.1_5'Flank	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1									p.R144Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CGGAAGCTGCGAATTTTCATT	0.517																																					p.R183Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G548A	12						.						179.0	185.0	183.0					12																	50481162		2203	4300	6503	48767429	SO:0001583	missense	6602	exon5			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.548G>A	12.37:g.50481162G>A	ENSP00000378414:p.Arg183Gln		48767429	NM_139071		Missense_Mutation	SNP	ENST00000394963.4	37	CCDS8797.2	.	.	.	.	.	.	.	.	.	.	G	31	5.075018	0.94000	.	.	ENSG00000066117	ENST00000394963;ENST00000381513	T;T	0.52526	0.66;0.66	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.99	T	0.79509	-0.1774	10	0.87932	D	0	-7.3085	19.2785	0.94042	0.0:0.0:1.0:0.0	.	183;183;183	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	Q	183	ENSP00000378414:R183Q;ENSP00000370924:R183Q	ENSP00000370924:R183Q	R	+	2	0	SMARCD1	48767429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.559000	0.98135	2.873000	0.98535	0.561000	0.74099	CGA		0.517	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316759.2	NM_003076	
LIMA1	51474	broad.mit.edu	37	12	50570879	50570879	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50570879G>A	ENST00000341247.4	-	11	2397	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	LIMA1_ENST00000552783.1_Missense_Mutation_p.R591W|LIMA1_ENST00000394943.3_Missense_Mutation_p.R751W|LIMA1_ENST00000552491.1_Missense_Mutation_p.R447W|LIMA1_ENST00000552909.1_Missense_Mutation_p.R589W|LIMA1_ENST00000552823.1_Missense_Mutation_p.R590W|LIMA1_ENST00000547825.1_Missense_Mutation_p.R448W	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	750					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.R750W(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCATAATACCGATTTCTCTTT	0.428																																					p.R751W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2251T	12						.						310.0	302.0	304.0					12																	50570879		2203	4300	6503	48857146	SO:0001583	missense	51474	exon11			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.2248C>T	12.37:g.50570879G>A	ENSP00000340184:p.Arg750Trp		48857146	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480316	0.84747	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.95069	-2.87;-2.86;-3.26;-3.6;-2.87;-3.25;-3.25	6.02	6.02	0.97574	.	0.062767	0.64402	D	0.000004	D	0.96987	0.9016	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97048	0.9762	10	0.87932	D	0	.	16.0721	0.80941	0.0:0.0:0.8655:0.1345	.	760;750;589	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	W	447;448;590;751;750;591;589;669	ENSP00000448463:R447W;ENSP00000448706:R448W;ENSP00000450266:R590W;ENSP00000378400:R751W;ENSP00000340184:R750W;ENSP00000448779:R591W;ENSP00000450087:R589W	ENSP00000340184:R750W	R	-	1	2	LIMA1	48857146	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.028000	0.57246	2.865000	0.98341	0.655000	0.94253	CGG		0.428	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
LIMA1	51474	broad.mit.edu	37	12	50615895	50615895	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50615895T>C	ENST00000341247.4	-	4	688	c.539A>G	c.(538-540)aAc>aGc	p.N180S	LIMA1_ENST00000552783.1_Missense_Mutation_p.N20S|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Missense_Mutation_p.N180S|LIMA1_ENST00000552909.1_Missense_Mutation_p.N20S|LIMA1_ENST00000552823.1_Missense_Mutation_p.N20S|LIMA1_ENST00000552008.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	180					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.N180S(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGCATCTGTGTTTTCACTGAT	0.368																																					p.N180S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539G	12						.						196.0	196.0	196.0					12																	50615895		2203	4300	6503	48902162	SO:0001583	missense	51474	exon4			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.539A>G	12.37:g.50615895T>C	ENSP00000340184:p.Asn180Ser		48902162	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595989	0.46318	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;D;T;T;T	0.84370	-1.39;-1.84;-1.1;-1.39;-1.39	6.17	3.85	0.44370	.	0.358324	0.32244	N	0.006364	T	0.75162	0.3812	M	0.67953	2.075	0.21386	N	0.999709	B;B;P	0.41848	0.304;0.304;0.763	B;B;B	0.33392	0.139;0.106;0.163	T	0.63812	-0.6552	10	0.07990	T	0.79	.	5.3248	0.15901	0.0:0.2065:0.1426:0.6509	.	189;180;20	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	S	20;180;180;20;20;99	ENSP00000450266:N20S;ENSP00000378400:N180S;ENSP00000340184:N180S;ENSP00000448779:N20S;ENSP00000450087:N20S	ENSP00000340184:N180S	N	-	2	0	LIMA1	48902162	0.977000	0.34250	0.772000	0.31596	0.934000	0.57294	1.048000	0.30379	1.149000	0.42402	0.533000	0.62120	AAC		0.368	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
LIMA1	51474	broad.mit.edu	37	12	50616203	50616203	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:50616203C>A	ENST00000341247.4	-	4	380	c.231G>T	c.(229-231)gaG>gaT	p.E77D	LIMA1_ENST00000552783.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000394943.3_Missense_Mutation_p.E77D|LIMA1_ENST00000552909.1_5'Flank|LIMA1_ENST00000552823.1_5'Flank|LIMA1_ENST00000552008.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	77					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.E77D(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GCCCTGGGTTCTCCCACTTCT	0.493																																					p.E77D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	12						.						111.0	108.0	109.0					12																	50616203		2203	4300	6503	48902470	SO:0001583	missense	51474	exon4			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.231G>T	12.37:g.50616203C>A	ENSP00000340184:p.Glu77Asp		48902470	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764838	0.90020	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;D	0.90004	-2.6;-1.86	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94496	0.8228	M	0.72894	2.215	0.80722	D	1	D;P	0.76494	0.999;0.929	D;P	0.78314	0.991;0.811	D	0.93855	0.7148	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	86;77	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	D	77	ENSP00000378400:E77D;ENSP00000340184:E77D	ENSP00000340184:E77D	E	-	3	2	LIMA1	48902470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.826000	0.48104	2.941000	0.99782	0.655000	0.94253	GAG		0.493	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
DIP2B	57609	broad.mit.edu	37	12	51065176	51065176	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51065176G>A	ENST00000301180.5	+	5	669	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	212	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R212Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCCAATACTCGAATAGGTAGG	0.453																																					p.R212Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635A	12						.						81.0	75.0	77.0					12																	51065176		2203	4300	6503	49351443	SO:0001583	missense	57609	exon5			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.635G>A	12.37:g.51065176G>A	ENSP00000301180:p.Arg212Gln		49351443	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045042	0.55110	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.22134	1.97	5.3	5.3	0.74995	.	0.115976	0.64402	N	0.000011	T	0.09468	0.0233	N	0.19112	0.55	0.54753	D	0.999987	B;P	0.45348	0.007;0.856	B;B	0.33254	0.002;0.16	T	0.14200	-1.0481	10	0.05620	T	0.96	-4.3495	12.4674	0.55766	0.0761:0.0:0.9239:0.0	.	212;222	Q9P265;E9PHD6	DIP2B_HUMAN;.	Q	222;212	ENSP00000301180:R212Q	ENSP00000301180:R212Q	R	+	2	0	DIP2B	49351443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.178000	0.77657	2.762000	0.94881	0.591000	0.81541	CGA		0.453	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
DIP2B	57609	broad.mit.edu	37	12	51092171	51092171	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51092171C>A	ENST00000301180.5	+	18	2143	c.2109C>A	c.(2107-2109)agC>agA	p.S703R		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	703						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.S703R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATGGATTGAGCTATGGGGTAA	0.468																																					p.S703R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2109A	12						.						106.0	100.0	102.0					12																	51092171		2203	4300	6503	49378438	SO:0001583	missense	57609	exon18			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2109C>A	12.37:g.51092171C>A	ENSP00000301180:p.Ser703Arg		49378438	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365488	0.61513	.	.	ENSG00000066084	ENST00000301180	T	0.25579	1.79	5.2	3.22	0.36961	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	M	0.79926	2.475	0.58432	D	0.999997	P	0.44816	0.844	P	0.58130	0.833	T	0.30446	-0.9978	10	0.45353	T	0.12	-14.7795	4.4345	0.11544	0.0:0.5838:0.0:0.4162	.	703	Q9P265	DIP2B_HUMAN	R	703	ENSP00000301180:S703R	ENSP00000301180:S703R	S	+	3	2	DIP2B	49378438	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.498000	0.22530	1.413000	0.46997	0.591000	0.81541	AGC		0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
DIP2B	57609	broad.mit.edu	37	12	51126253	51126253	+	Silent	SNP	C	C	T	rs143164072		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51126253C>T	ENST00000301180.5	+	32	3949	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1305						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.I1305I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542																																					p.I1305I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3915T	12						.	C		1,4405	2.1+/-5.4	0,1,2202	93.0	83.0	86.0		3915	-2.9	0.8	12	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIP2B	NM_173602.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1305/1577	51126253	2,13004	2203	4300	6503	49412520	SO:0001819	synonymous_variant	57609	exon32			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3915C>T	12.37:g.51126253C>T			49412520	NM_173602	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.542	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
SLC11A2	4891	broad.mit.edu	37	12	51398584	51398584	+	Missense_Mutation	SNP	C	C	T	rs368158015		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51398584C>T	ENST00000262051.7	-	5	503	c.416G>A	c.(415-417)cGt>cAt	p.R139H	SLC11A2_ENST00000549193.1_5'Flank|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R135H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R139H|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R168H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R139H|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R139H|SLC11A2_ENST00000546743.1_Missense_Mutation_p.R60H|SLC11A2_ENST00000394904.3_Missense_Mutation_p.R168H	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	139					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R139H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						GGGATACTGACGGTGACATAC	0.532																																					p.R168H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	12						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	87.0	59.0	68.0		416,503,416,416,416,416,404	4.4	1.0	12		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	SLC11A2	NM_000617.2,NM_001174125.1,NM_001174126.1,NM_001174127.1,NM_001174128.1,NM_001174129.1,NM_001174130.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	139/562,168/591,139/569,139/569,139/562,139/562,135/558	51398584	1,13005	2203	4300	6503	49684851	SO:0001583	missense	4891	exon5			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.416G>A	12.37:g.51398584C>T	ENSP00000262051:p.Arg139His		49684851	NM_001174125	B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288616	0.59976	0.0	1.16E-4	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000547579;ENST00000550714;ENST00000547732;ENST00000549110;ENST00000548193	T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.35	4.45	0.53987	.	0.060946	0.64402	D	0.000004	T	0.62392	0.2424	L	0.39020	1.185	0.58432	D	0.999999	B;B;B;B;B	0.18741	0.015;0.012;0.03;0.029;0.018	B;B;B;B;B	0.21546	0.035;0.02;0.033;0.02;0.013	T	0.60541	-0.7243	10	0.59425	D	0.04	-6.3187	13.3033	0.60338	0.0:0.9216:0.0:0.0784	.	102;135;168;139;139	B7Z9M2;F5H741;P49281-3;P49281-2;P49281	.;.;.;.;NRAM2_HUMAN	H	139;139;139;168;168;139;135;60;60;92;60;60;139	ENSP00000262051:R139H;ENSP00000446769:R139H;ENSP00000262052:R139H;ENSP00000378364:R168H;ENSP00000449200:R168H;ENSP00000444542:R139H;ENSP00000442810:R135H;ENSP00000446914:R60H;ENSP00000447482:R60H;ENSP00000446984:R92H;ENSP00000447102:R60H;ENSP00000447334:R60H;ENSP00000449209:R139H	ENSP00000262051:R139H	R	-	2	0	SLC11A2	49684851	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	1.233000	0.43693	0.650000	0.86243	CGT		0.532	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1		
LETMD1	25875	broad.mit.edu	37	12	51442819	51442819	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51442819C>A	ENST00000262055.4	+	2	164	c.125C>A	c.(124-126)tCt>tAt	p.S42Y	LETMD1_ENST00000418425.2_Missense_Mutation_p.S42Y|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_5'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.S42Y|LETMD1_ENST00000380123.2_Missense_Mutation_p.S42Y	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	42	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.S42Y(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CCTTGTAGGTCTTCAAAGCTT	0.433																																					p.S42Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125A	12						.						100.0	95.0	97.0					12																	51442819		2203	4300	6503	49729086	SO:0001583	missense	25875	exon2			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.125C>A	12.37:g.51442819C>A	ENSP00000262055:p.Ser42Tyr		49729086	NM_015416	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836035	0.71373	.	.	ENSG00000050426	ENST00000551477;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008	T;T;T;T;T;T;T;T;T;T	0.55413	0.64;0.67;0.64;0.52;0.57;0.57;0.59;0.78;0.67;0.59	4.86	4.86	0.63082	.	0.149916	0.31760	N	0.007102	T	0.43831	0.1265	N	0.24115	0.695	0.32400	N	0.552028	B;B;P;B;B;P	0.52842	0.356;0.102;0.94;0.057;0.005;0.956	B;B;P;B;B;P	0.48030	0.197;0.046;0.564;0.075;0.015;0.564	T	0.55915	-0.8065	10	0.52906	T	0.07	-9.2798	10.8632	0.46839	0.1879:0.8121:0.0:0.0	.	42;42;42;42;42;42	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.;.;.;.;.;LTMD1_HUMAN	Y	9;42;42;42;42;42;42;49;42;42;42	ENSP00000446862:S9Y;ENSP00000262055:S42Y;ENSP00000448110:S42Y;ENSP00000449896:S42Y;ENSP00000450275:S42Y;ENSP00000447166:S42Y;ENSP00000369466:S42Y;ENSP00000450082:S49Y;ENSP00000389903:S42Y;ENSP00000447419:S42Y	ENSP00000262055:S42Y	S	+	2	0	LETMD1	49729086	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.206000	0.42779	2.685000	0.91497	0.655000	0.94253	TCT		0.433	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	
TFCP2	7024	broad.mit.edu	37	12	51497497	51497497	+	Missense_Mutation	SNP	C	C	T	rs563834540		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51497497C>T	ENST00000257915.5	-	10	1474	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000548115.1_Missense_Mutation_p.R288Q|TFCP2_ENST00000307660.4_Missense_Mutation_p.R288Q	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	339	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R339Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAAACGATTTCGATGCAACCA	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19876	0.001		0.0	False		,,,				2504	0.0				p.R339Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	12						.						165.0	161.0	162.0					12																	51497497		2203	4300	6503	49783764	SO:0001583	missense	7024	exon10			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1016G>A	12.37:g.51497497C>T	ENSP00000257915:p.Arg339Gln		49783764	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741597	0.69304	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000548115;ENST00000548108	T;T;T;T	0.46451	2.21;0.88;0.87;2.22	5.32	4.43	0.53597	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	L	0.52573	1.65	0.52099	D	0.999941	D;B;B	0.71674	0.998;0.448;0.194	D;B;B	0.66497	0.944;0.062;0.038	T	0.47275	-0.9130	10	0.20519	T	0.43	-11.1708	13.552	0.61738	0.0:0.9237:0.0:0.0763	.	288;339;339	Q12800-2;Q12800;Q12800-4	.;TFCP2_HUMAN;.	Q	339;288;288;241	ENSP00000257915:R339Q;ENSP00000304411:R288Q;ENSP00000447991:R288Q;ENSP00000449280:R241Q	ENSP00000257915:R339Q	R	-	2	0	TFCP2	49783764	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	3.125000	0.50469	1.626000	0.50381	0.655000	0.94253	CGA		0.373	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
BIN2	51411	broad.mit.edu	37	12	51690946	51690946	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51690946C>T	ENST00000267012.4	-	8	666	c.605G>A	c.(604-606)cGt>cAt	p.R202H	BIN2_ENST00000452142.2_Missense_Mutation_p.R170H|BIN2_ENST00000604560.1_Missense_Mutation_p.R175H|BIN2_ENST00000544402.1_Missense_Mutation_p.R176H	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	202	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.R202H(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCAGCCAATACGACTATTAGG	0.438																																					p.R202H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	12						.						97.0	86.0	90.0					12																	51690946		2203	4300	6503	49977213	SO:0001583	missense	51411	exon8			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.605G>A	12.37:g.51690946C>T	ENSP00000267012:p.Arg202His		49977213	NM_016293	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669160	0.88348	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	T;T;T	0.64803	-0.12;-0.12;-0.12	4.78	3.89	0.44902	BAR (3);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.86651	2.83	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.83734	0.0200	10	0.87932	D	0	-5.6463	12.4407	0.55623	0.0:0.9168:0.0:0.0832	.	176;170;202	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	H	170;202;176	ENSP00000410217:R170H;ENSP00000267012:R202H;ENSP00000445874:R176H	ENSP00000267012:R202H	R	-	2	0	BIN2	49977213	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.248000	0.78268	1.381000	0.46364	0.557000	0.71058	CGT		0.438	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1		
GALNT6	11226	broad.mit.edu	37	12	51773511	51773511	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51773511C>T	ENST00000543196.2	-	2	260	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	GALNT6_ENST00000356317.3_Missense_Mutation_p.A19T|GALNT6_ENST00000603203.1_5'Flank			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	19					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A19T(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCACAAAGGCGCAGCCCACC	0.632																																					p.A19T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	12						.						32.0	35.0	34.0					12																	51773511		2203	4300	6503	50059778	SO:0001583	missense	11226	exon3			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.55G>A	12.37:g.51773511C>T	ENSP00000444171:p.Ala19Thr		50059778	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226881	0.22542	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.29655	1.56;1.56	4.52	1.74	0.24563	.	0.378318	0.30383	N	0.009760	T	0.16428	0.0395	N	0.11427	0.14	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.18967	-1.0320	10	0.38643	T	0.18	.	12.7228	0.57152	0.0:0.8403:0.0:0.1597	.	19	Q8NCL4	GALT6_HUMAN	T	19	ENSP00000444171:A19T;ENSP00000348668:A19T	ENSP00000348668:A19T	A	-	1	0	GALNT6	50059778	0.001000	0.12720	0.430000	0.26722	0.758000	0.43043	-0.127000	0.10547	0.410000	0.25675	-0.940000	0.02684	GCC		0.632	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
SLC4A8	9498	broad.mit.edu	37	12	51851155	51851155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51851155G>T	ENST00000453097.2	+	6	812	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	SLC4A8_ENST00000514353.3_Nonsense_Mutation_p.E146*|SLC4A8_ENST00000394856.1_Nonsense_Mutation_p.E146*|SLC4A8_ENST00000535225.2_Nonsense_Mutation_p.E146*|SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E226*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.E146*(1)|p.E199*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGATCAGCAAGAACTGTCCAG	0.468																																					p.E199X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G595T	12						.						107.0	94.0	98.0					12																	51851155		2203	4300	6503	50137422	SO:0001587	stop_gained	9498	exon6			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.595G>T	12.37:g.51851155G>T	ENSP00000405812:p.Glu199*		50137422	NM_001039960		Nonsense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	37	6.394359	0.97533	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	.	.	.	5.29	5.29	0.74685	.	0.142257	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.8094	0.85715	0.0:0.0:1.0:0.0	.	.	.	.	X	146;226;199;146;199;146;146;146	.	ENSP00000315789:E199X	E	+	1	0	SLC4A8	50137422	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.705000	0.74644	2.635000	0.89317	0.655000	0.94253	GAA		0.468	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
SLC4A8	9498	broad.mit.edu	37	12	51851238	51851238	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51851238G>T	ENST00000453097.2	+	6	895	c.678G>T	c.(676-678)aaG>aaT	p.K226N	SLC4A8_ENST00000514353.3_Missense_Mutation_p.K173N|SLC4A8_ENST00000394856.1_Missense_Mutation_p.K173N|SLC4A8_ENST00000535225.2_Missense_Mutation_p.K173N|SLC4A8_ENST00000358657.3_Missense_Mutation_p.K253N	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.K173N(1)|p.K226N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGAATGAAAAGAAGAGAAACA	0.433																																					p.K226N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G678T	12						.						165.0	146.0	152.0					12																	51851238		2203	4300	6503	50137505	SO:0001583	missense	9498	exon6			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.678G>T	12.37:g.51851238G>T	ENSP00000405812:p.Lys226Asn		50137505	NM_001039960		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621134	0.87460	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.29	4.37	0.52481	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.089250	0.85682	D	0.000000	T	0.70605	0.3243	M	0.63428	1.95	0.58432	D	0.999991	P;B;B;B;B;P;P	0.51147	0.942;0.077;0.174;0.024;0.038;0.469;0.627	P;B;B;B;B;B;B	0.51079	0.658;0.069;0.106;0.049;0.238;0.315;0.17	T	0.73433	-0.3984	10	0.66056	D	0.02	.	11.2712	0.49140	0.0939:0.0:0.9061:0.0	.	173;253;173;226;226;226;173	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	N	173;253;226;173;226;173;173;173	ENSP00000441520:K173N;ENSP00000351483:K253N;ENSP00000405812:K226N;ENSP00000378325:K173N;ENSP00000442561:K173N	ENSP00000315789:K226N	K	+	3	2	SLC4A8	50137505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.400000	0.44504	1.299000	0.44798	0.655000	0.94253	AAG		0.433	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
SLC4A8	9498	broad.mit.edu	37	12	51856209	51856209	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:51856209G>T	ENST00000453097.2	+	10	1434	c.1217G>T	c.(1216-1218)aGa>aTa	p.R406I	SLC4A8_ENST00000514353.3_Missense_Mutation_p.R353I|SLC4A8_ENST00000394856.1_Missense_Mutation_p.R353I|SLC4A8_ENST00000535225.2_Missense_Mutation_p.R353I|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R433I	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.R406I(1)|p.R353I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCCTCCATTAGAATTGAGCCA	0.502																																					p.R406I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1217T	12						.						97.0	91.0	93.0					12																	51856209		2203	4300	6503	50142476	SO:0001583	missense	9498	exon10			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1217G>T	12.37:g.51856209G>T	ENSP00000405812:p.Arg406Ile		50142476	NM_001039960		Missense_Mutation	SNP	ENST00000453097.2	37	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	33	5.282272	0.95489	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.33	5.33	0.75918	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91998	0.7465	M	0.91140	3.18	0.80722	D	1	D;P;P;P;D;P	0.71674	0.998;0.69;0.951;0.82;0.971;0.887	D;P;P;P;P;D	0.78314	0.991;0.508;0.784;0.852;0.891;0.929	D	0.93136	0.6537	10	0.87932	D	0	.	18.6579	0.91460	0.0:0.0:1.0:0.0	.	353;433;353;406;406;406	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	I	353;433;406;353;406;353;353	ENSP00000441520:R353I;ENSP00000351483:R433I;ENSP00000405812:R406I;ENSP00000378325:R353I;ENSP00000442561:R353I	ENSP00000315789:R406I	R	+	2	0	SLC4A8	50142476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.866000	0.98385	0.650000	0.86243	AGA		0.502	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858	
SCN8A	6334	broad.mit.edu	37	12	52156381	52156381	+	Missense_Mutation	SNP	G	G	A	rs368457455		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52156381G>A	ENST00000354534.6	+	15	2643	c.2465G>A	c.(2464-2466)gGa>gAa	p.G822E	SCN8A_ENST00000550891.1_Missense_Mutation_p.G822E|SCN8A_ENST00000545061.1_Missense_Mutation_p.G822E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	822					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.G822E(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTTTTGACGGATTTATTGTC	0.413																																					p.G822E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2465A	12						.						159.0	158.0	159.0					12																	52156381		1892	4142	6034	50442648	SO:0001583	missense	6334	exon15			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2465G>A	12.37:g.52156381G>A	ENSP00000346534:p.Gly822Glu		50442648	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930636	0.73327	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.77712	2.385	0.80722	D	1	D;D;D	0.69078	0.995;0.992;0.997	P;P;D	0.68039	0.889;0.774;0.955	D	0.99110	1.0846	10	0.59425	D	0.04	.	17.9135	0.88942	0.0:0.0:1.0:0.0	.	822;822;822	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	E	822;822;822;822;735	ENSP00000448415:G822E;ENSP00000346534:G822E;ENSP00000440360:G822E;ENSP00000347255:G822E	ENSP00000346534:G822E	G	+	2	0	SCN8A	50442648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.632000	0.89209	0.455000	0.32223	GGA		0.413	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
SCN8A	6334	broad.mit.edu	37	12	52200541	52200541	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52200541C>T	ENST00000354534.6	+	27	5449	c.5271C>T	c.(5269-5271)gtC>gtT	p.V1757V	RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Silent_p.V1716V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1757					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.V1757V(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCCTAATTGTCGTGAACATGT	0.463																																					p.V1757V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5271T	12						.						131.0	139.0	136.0					12																	52200541		2198	4300	6498	50486808	SO:0001819	synonymous_variant	6334	exon27			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5271C>T	12.37:g.52200541C>T			50486808	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	CCDS44891.1																																																																																				0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
KRT7	3855	broad.mit.edu	37	12	52636858	52636858	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52636858G>T	ENST00000331817.5	+	6	1104	c.921G>T	c.(919-921)gaG>gaT	p.E307D	RP3-416H24.1_ENST00000546686.1_RNA	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	307	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E307D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	CCCGGAATGAGATTTCAGAGA	0.577																																					p.E307D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G921T	12						.						76.0	70.0	72.0					12																	52636858		2203	4300	6503	50923125	SO:0001583	missense	3855	exon6				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.921G>T	12.37:g.52636858G>T	ENSP00000329243:p.Glu307Asp		50923125	NM_005556	Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619297	0.66787	.	.	ENSG00000135480	ENST00000331817;ENST00000422319;ENST00000551537	D	0.92752	-3.1	3.94	3.94	0.45596	Prefoldin (1);Filament (1);	0.000000	0.38326	N	0.001737	D	0.93851	0.8033	M	0.89534	3.04	0.54753	D	0.999986	B;P	0.41546	0.349;0.754	P;B	0.44860	0.462;0.4	D	0.94873	0.8032	10	0.87932	D	0	.	12.2178	0.54416	0.0865:0.0:0.9135:0.0	.	307;307	F8VZY5;P08729	.;K2C7_HUMAN	D	307;283;307	ENSP00000329243:E307D	ENSP00000329243:E307D	E	+	3	2	KRT7	50923125	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	2.733000	0.47360	2.219000	0.72066	0.561000	0.74099	GAG		0.577	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556	
KRT84	3890	broad.mit.edu	37	12	52776228	52776228	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52776228T>C	ENST00000257951.3	-	4	971	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	302	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.Y302C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTCCATGTAAAGCGTTTT	0.453																																					p.Y302C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A905G	12						.						126.0	108.0	114.0					12																	52776228		2203	4300	6503	51062495	SO:0001583	missense	3890	exon4			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.905A>G	12.37:g.52776228T>C	ENSP00000257951:p.Tyr302Cys		51062495	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238065	0.39598	.	.	ENSG00000161849	ENST00000257951	D	0.90261	-2.64	4.34	3.16	0.36331	Filament (1);	0.183599	0.26887	N	0.021997	D	0.94932	0.8361	M	0.90369	3.11	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87827	0.2642	10	0.87932	D	0	.	6.7566	0.23518	0.1499:0.0:0.1563:0.6938	.	302	Q9NSB2	KRT84_HUMAN	C	302	ENSP00000257951:Y302C	ENSP00000257951:Y302C	Y	-	2	0	KRT84	51062495	1.000000	0.71417	0.003000	0.11579	0.784000	0.44337	5.403000	0.66338	0.784000	0.33661	0.533000	0.62120	TAC		0.453	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT84	3890	broad.mit.edu	37	12	52777552	52777552	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52777552G>T	ENST00000257951.3	-	2	643	c.577C>A	c.(577-579)Cta>Ata	p.L193I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	193	Coil 1A.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.L193I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGTCTCTAGGAGCTTATTC	0.498																																					p.L193I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577A	12						.						68.0	68.0	68.0					12																	52777552		2203	4300	6503	51063819	SO:0001583	missense	3890	exon2			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.577C>A	12.37:g.52777552G>T	ENSP00000257951:p.Leu193Ile		51063819	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228328	0.58777	.	.	ENSG00000161849	ENST00000257951	D	0.95307	-3.67	5.32	0.209	0.15226	Filament (1);	0.000000	0.39020	N	0.001493	D	0.97498	0.9181	H	0.95504	3.68	0.33239	D	0.557001	D	0.76494	0.999	D	0.91635	0.999	D	0.97148	0.9829	10	0.87932	D	0	.	9.9637	0.41712	0.3444:0.0:0.6556:0.0	.	193	Q9NSB2	KRT84_HUMAN	I	193	ENSP00000257951:L193I	ENSP00000257951:L193I	L	-	1	2	KRT84	51063819	1.000000	0.71417	0.309000	0.25155	0.558000	0.35554	4.734000	0.62043	-0.048000	0.13401	-0.345000	0.07892	CTA		0.498	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT84	3890	broad.mit.edu	37	12	52779051	52779051	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52779051A>C	ENST00000257951.3	-	1	385	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	107	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.F107V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTCCAAAGCCCAGACCA	0.587																																					p.F107V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T319G	12						.						183.0	171.0	175.0					12																	52779051		2203	4300	6503	51065318	SO:0001583	missense	3890	exon1			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.319T>G	12.37:g.52779051A>C	ENSP00000257951:p.Phe107Val		51065318	NM_033045	B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337101	0.24253	.	.	ENSG00000161849	ENST00000257951	T	0.80909	-1.43	5.01	5.01	0.66863	.	0.262503	0.27710	N	0.018170	T	0.75781	0.3896	L	0.56280	1.765	0.09310	N	1	B	0.23442	0.085	B	0.19666	0.026	T	0.61931	-0.6961	10	0.21540	T	0.41	.	15.189	0.73028	1.0:0.0:0.0:0.0	.	107	Q9NSB2	KRT84_HUMAN	V	107	ENSP00000257951:F107V	ENSP00000257951:F107V	F	-	1	0	KRT84	51065318	0.422000	0.25473	0.425000	0.26659	0.007000	0.05969	1.746000	0.38288	2.230000	0.72887	0.496000	0.49642	TTT		0.587	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045	
KRT75	9119	broad.mit.edu	37	12	52822462	52822462	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52822462G>T	ENST00000252245.5	-	6	1321	c.1101C>A	c.(1099-1101)atC>atA	p.I367I	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	367	Coil 2.|Rod.		I -> V (in dbSNP:rs2232402).		hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.I367I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCATTTCAGAGATCTCTTGTT	0.512																																					p.I367I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101A	12						.						193.0	158.0	170.0					12																	52822462		2203	4300	6503	51108729	SO:0001819	synonymous_variant	9119	exon6			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1101C>A	12.37:g.52822462G>T			51108729	NM_004693	B4DQU4|Q9NSA9	Silent	SNP	ENST00000252245.5	37	CCDS8827.1																																																																																				0.512	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
KRT6A	3853	broad.mit.edu	37	12	52881633	52881633	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52881633G>A	ENST00000330722.6	-	9	1634	c.1566C>T	c.(1564-1566)ggC>ggT	p.G522G		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	522	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G522G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTCCAACGCCAAGACCAC	0.612																																					p.G522G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1566T	12						.						87.0	96.0	93.0					12																	52881633		2203	4300	6503	51167900	SO:0001819	synonymous_variant	3853	exon9			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1566C>T	12.37:g.52881633G>A			51167900	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.612	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRT5	3852	broad.mit.edu	37	12	52913636	52913636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52913636G>T	ENST00000252242.4	-	1	835	c.445C>A	c.(445-447)Ctc>Atc	p.L149I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	149	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.L149I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGTCAGGAGACTCTGGTTG	0.592																																					p.L149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445A	12						.						176.0	165.0	169.0					12																	52913636		2203	4300	6503	51199903	SO:0001583	missense	3852	exon1				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.445C>A	12.37:g.52913636G>T	ENSP00000252242:p.Leu149Ile		51199903	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668075	0.88348	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;D	0.91996	-2.95;-1.06;-2.95	5.53	4.64	0.57946	.	0.000000	0.51477	D	0.000092	D	0.96651	0.8907	M	0.91717	3.235	0.41445	D	0.987944	D	0.89917	1.0	D	0.91635	0.999	D	0.97475	1.0043	10	0.87932	D	0	.	13.859	0.63548	0.0742:0.0:0.9258:0.0	.	149	P13647	K2C5_HUMAN	I	149;114;39;114	ENSP00000252242:L149I;ENSP00000447209:L39I;ENSP00000448041:L114I	ENSP00000252242:L149I	L	-	1	0	KRT5	51199903	.	.	0.544000	0.28141	0.997000	0.91878	.	.	1.336000	0.45506	0.563000	0.77884	CTC		0.592	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT5	3852	broad.mit.edu	37	12	52913943	52913943	+	Silent	SNP	G	G	A	rs201458850	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52913943G>A	ENST00000252242.4	-	1	528	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	46	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.F46F(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGACCCTGCCGAAGCCACCAC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		15824	0.001		0.001	False		,,,				2504	0.0				p.F46F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	12						.						35.0	48.0	44.0					12																	52913943		2203	4294	6497	51200210	SO:0001819	synonymous_variant	3852	exon1				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.138C>T	12.37:g.52913943G>A			51200210	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																				0.652	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT71	112802	broad.mit.edu	37	12	52941659	52941659	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52941659G>A	ENST00000267119.5	-	6	1155	c.1086C>T	c.(1084-1086)atC>atT	p.I362I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	362	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.I362I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCACGTTCTCGATCTCTGAGC	0.562																																					p.I362I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1086T	12						.						189.0	182.0	184.0					12																	52941659		2203	4300	6503	51227926	SO:0001819	synonymous_variant	112802	exon6			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1086C>T	12.37:g.52941659G>A			51227926	NM_033448	B3KVC1|Q3SY85|Q96DU2	Silent	SNP	ENST00000267119.5	37	CCDS8831.1																																																																																				0.562	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	
KRT74	121391	broad.mit.edu	37	12	52967109	52967109	+	Silent	SNP	G	G	A	rs531125952		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:52967109G>A	ENST00000305620.2	-	1	500	c.453C>T	c.(451-453)ttC>ttT	p.F151F	KRT74_ENST00000549343.1_Silent_p.F151F	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	151	Coil 1A.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)	p.F151F(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAAGGAGGCGAACTTGTCGT	0.592																																					p.F151F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	12						.						125.0	116.0	119.0					12																	52967109		2203	4300	6503	51253376	SO:0001819	synonymous_variant	121391	exon1			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.453C>T	12.37:g.52967109G>A			51253376	NM_175053	B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	CCDS8832.1																																																																																				0.592	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
KRT73	319101	broad.mit.edu	37	12	53005048	53005048	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53005048G>A	ENST00000305748.3	-	6	1084	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	350	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I350I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527																																					p.I350I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1050T	12						.						165.0	139.0	148.0					12																	53005048		2203	4300	6503	51291315	SO:0001819	synonymous_variant	319101	exon6			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1050C>T	12.37:g.53005048G>A			51291315	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.527	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
KRT1	3848	broad.mit.edu	37	12	53071971	53071971	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53071971C>A	ENST00000252244.3	-	3	901	c.843G>T	c.(841-843)gaG>gaT	p.E281D		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	281	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E281E(1)|p.E281D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CAAATTCATTCTCTGCATTTG	0.403																																					p.E281D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G843T	12						.						156.0	125.0	135.0					12																	53071971		2203	4300	6503	51358238	SO:0001583	missense	3848	exon3			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.843G>T	12.37:g.53071971C>A	ENSP00000252244:p.Glu281Asp		51358238	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907262	0.72868	.	.	ENSG00000167768	ENST00000252244	D	0.94330	-3.4	5.17	2.27	0.28462	Filament (1);	.	.	.	.	D	0.97235	0.9096	H	0.96333	3.805	0.34284	D	0.682432	D	0.89917	1.0	D	0.97110	1.0	D	0.96904	0.9662	9	0.87932	D	0	.	8.2714	0.31846	0.0:0.6035:0.0:0.3965	.	281	P04264	K2C1_HUMAN	D	281	ENSP00000252244:E281D	ENSP00000252244:E281D	E	-	3	2	KRT1	51358238	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	0.349000	0.20055	0.256000	0.21614	0.655000	0.94253	GAG		0.403	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
KRT3	3850	broad.mit.edu	37	12	53189607	53189607	+	Missense_Mutation	SNP	C	C	A	rs557308178		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53189607C>A	ENST00000417996.2	-	1	294	c.220G>T	c.(220-222)Ggc>Tgc	p.G74C	KRT3_ENST00000309505.3_Missense_Mutation_p.G74C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	74	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G74C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCCGGGAGCCGCCAGCTGCC	0.652																																					p.G74C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220T	12						.						72.0	99.0	90.0					12																	53189607		2203	4300	6503	51475874	SO:0001583	missense	3850	exon1				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.220G>T	12.37:g.53189607C>A	ENSP00000413479:p.Gly74Cys		51475874	NM_057088	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.362238	0.24684	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.95554	-3.74;-3.74	4.98	2.07	0.26955	.	0.140616	0.32901	N	0.005512	D	0.91479	0.7310	L	0.58354	1.805	0.30672	N	0.75331	B	0.24483	0.104	B	0.24269	0.052	D	0.85108	0.0961	10	0.45353	T	0.12	.	3.1397	0.06451	0.1431:0.5648:0.1385:0.1535	.	74	P12035	K2C3_HUMAN	C	74	ENSP00000413479:G74C;ENSP00000312206:G74C	ENSP00000312206:G74C	G	-	1	0	KRT3	51475874	0.811000	0.29063	0.927000	0.36925	0.625000	0.37756	1.848000	0.39309	0.209000	0.20645	-0.300000	0.09419	GGC		0.652	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
KRT79	338785	broad.mit.edu	37	12	53227866	53227866	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53227866C>T	ENST00000330553.5	-	1	213	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	60	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.R60Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATAGAGGCTTCGGCTGCCAAA	0.662																																					p.R60Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179A	12						.						24.0	31.0	29.0					12																	53227866		2191	4283	6474	51514133	SO:0001583	missense	338785	exon1			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.179G>A	12.37:g.53227866C>T	ENSP00000328358:p.Arg60Gln		51514133	NM_175834	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601071	0.46423	.	.	ENSG00000185640	ENST00000330553	T	0.42900	0.96	4.22	2.32	0.28847	.	0.360362	0.20805	N	0.085354	T	0.34077	0.0885	L	0.58810	1.83	0.28616	N	0.908436	B	0.33748	0.423	B	0.25405	0.06	T	0.30679	-0.9970	10	0.62326	D	0.03	.	9.3387	0.38067	0.0:0.8088:0.0:0.1912	.	60	Q5XKE5	K2C79_HUMAN	Q	60	ENSP00000328358:R60Q	ENSP00000328358:R60Q	R	-	2	0	KRT79	51514133	0.005000	0.15991	0.999000	0.59377	0.980000	0.70556	1.053000	0.30442	0.679000	0.31345	0.655000	0.94253	CGA		0.662	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
KRT78	196374	broad.mit.edu	37	12	53237996	53237996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53237996C>A	ENST00000304620.4	-	6	991	c.928G>T	c.(928-930)Gaa>Taa	p.E310*	KRT78_ENST00000359499.4_Nonsense_Mutation_p.E200*	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	310	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.E310*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCTGAAGTTCCTGGTACTGA	0.507																																					p.E310X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G928T	12						.						137.0	125.0	129.0					12																	53237996		2203	4300	6503	51524263	SO:0001587	stop_gained	196374	exon6			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.928G>T	12.37:g.53237996C>A	ENSP00000306261:p.Glu310*		51524263	NM_173352	A8K4D6|Q5HYM7|Q7RTT2	Nonsense_Mutation	SNP	ENST00000304620.4	37	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095878	0.36952	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	.	.	.	4.54	3.63	0.41609	.	0.333140	0.17355	N	0.177261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2924	0.54825	0.0:0.828:0.172:0.0	.	.	.	.	X	200;310;81	.	ENSP00000306261:E310X	E	-	1	0	KRT78	51524263	0.999000	0.42202	1.000000	0.80357	0.047000	0.14425	1.415000	0.34748	1.197000	0.43143	0.558000	0.71614	GAA		0.507	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352	
EIF4B	1975	broad.mit.edu	37	12	53412779	53412779	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53412779C>T	ENST00000262056.9	+	3	675	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Nonsense_Mutation_p.R117*|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Nonsense_Mutation_p.R117*|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	117	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.R117*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAATTCTTTCGAGGATTAAA	0.368																																					p.R117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C349T	12						.						40.0	37.0	38.0					12																	53412779		1809	4072	5881	51699046	SO:0001587	stop_gained	1975	exon3			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.349C>T	12.37:g.53412779C>T	ENSP00000262056:p.Arg117*		51699046	NM_001417	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Nonsense_Mutation	SNP	ENST00000262056.9	37	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734160	0.89482	.	.	ENSG00000063046	ENST00000262056;ENST00000551002;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	.	.	.	4.78	2.22	0.28083	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9775	0.47475	0.6183:0.3817:0.0:0.0	.	.	.	.	X	117;71;117;117;117;117;117	.	ENSP00000262056:R117X	R	+	1	2	EIF4B	51699046	0.997000	0.39634	1.000000	0.80357	0.897000	0.52465	1.715000	0.37971	0.921000	0.36994	-0.335000	0.08231	CGA		0.368	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	
TENC1	23371	broad.mit.edu	37	12	53454966	53454966	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53454966G>A	ENST00000314250.6	+	20	3566	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	TENC1_ENST00000451358.1_Silent_p.E1082E|TENC1_ENST00000379902.3_Silent_p.E968E|TENC1_ENST00000552570.1_Silent_p.E1092E|TENC1_ENST00000549700.1_Silent_p.E1027E|TENC1_ENST00000314276.3_Silent_p.E1102E|TENC1_ENST00000546602.1_Silent_p.E995E	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1092	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.E1092E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGGGCCCAGAGCAGGCATCAT	0.617																																					p.E1092E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3276A	12						.						55.0	67.0	63.0					12																	53454966		2203	4299	6502	51741233	SO:0001819	synonymous_variant	23371	exon20			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3276G>A	12.37:g.53454966G>A			51741233	NM_170754	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	CCDS8843.1																																																																																				0.617	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	
CSAD	51380	broad.mit.edu	37	12	53552392	53552392	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53552392C>T	ENST00000444623.1	-	17	1652	c.1385G>A	c.(1384-1386)gGc>gAc	p.G462D	RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379846.1_Missense_Mutation_p.G315D|CSAD_ENST00000379843.3_Missense_Mutation_p.G315D|CSAD_ENST00000267085.4_Missense_Mutation_p.G489D|CSAD_ENST00000453446.2_Missense_Mutation_p.G462D	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	462					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G462D(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GAAGAAGTTGCCCCGGGTCCC	0.612																																					p.G489D	Ovarian(109;252 1546 16882 28524 44645)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466A	12						.						80.0	61.0	67.0					12																	53552392		2203	4300	6503	51838659	SO:0001583	missense	51380	exon17			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1385G>A	12.37:g.53552392C>T	ENSP00000415485:p.Gly462Asp		51838659	NM_015989	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286700	0.23478	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	4.49	-3.72	0.04411	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.777054	0.11752	N	0.532902	T	0.35068	0.0919	M	0.66297	2.02	0.50813	D	0.999893	B;B;P	0.35894	0.367;0.117;0.526	B;B;B	0.31245	0.08;0.037;0.126	T	0.38394	-0.9663	10	0.39692	T	0.17	-2.9217	11.5724	0.50841	0.2818:0.1482:0.57:0.0	.	489;462;315	Q9Y600-3;Q9Y600;Q9Y600-2	.;CSAD_HUMAN;.	D	551;315;489;315;462;423;462	ENSP00000369172:G315D;ENSP00000267085:G489D;ENSP00000369175:G315D;ENSP00000415485:G462D;ENSP00000410648:G462D	ENSP00000267085:G489D	G	-	2	0	CSAD	51838659	0.877000	0.30153	0.425000	0.26659	0.198000	0.23893	0.331000	0.19733	-0.403000	0.07622	0.442000	0.29010	GGC		0.612	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989	
AAAS	8086	broad.mit.edu	37	12	53701481	53701481	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53701481C>T	ENST00000209873.4	-	16	1598	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	AAAS_ENST00000550286.1_Missense_Mutation_p.R354Q|AAAS_ENST00000394384.3_Missense_Mutation_p.R445Q|AAAS_ENST00000549983.1_5'Flank	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	478					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.R478Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GTGGGCAATTCGGCCTGTGGA	0.602																																					p.R445Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334A	12						.						77.0	77.0	77.0					12																	53701481		2202	4300	6502	51987748	SO:0001583	missense	8086	exon15			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1433G>A	12.37:g.53701481C>T	ENSP00000209873:p.Arg478Gln		51987748	NM_001173466	Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592810	0.86953	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	D;D;D	0.84298	-1.83;-1.66;-1.78	4.49	4.49	0.54785	.	0.139179	0.47852	D	0.000201	T	0.80737	0.4680	N	0.24115	0.695	0.47994	D	0.999567	D;D	0.67145	0.996;0.99	P;P	0.48921	0.595;0.551	T	0.82116	-0.0616	10	0.45353	T	0.12	-5.5162	15.0872	0.72165	0.0:1.0:0.0:0.0	.	445;478	Q5JB47;Q9NRG9	.;AAAS_HUMAN	Q	478;445;354	ENSP00000209873:R478Q;ENSP00000377908:R445Q;ENSP00000446885:R354Q	ENSP00000209873:R478Q	R	-	2	0	AAAS	51987748	0.569000	0.26643	0.992000	0.48379	0.998000	0.95712	0.887000	0.28254	2.504000	0.84457	0.655000	0.94253	CGA		0.602	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
SP7	121340	broad.mit.edu	37	12	53722275	53722275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53722275C>T	ENST00000536324.2	-	3	1234	c.951G>A	c.(949-951)tgG>tgA	p.W317*	SP7_ENST00000537210.2_Nonsense_Mutation_p.W299*|SP7_ENST00000303846.3_Nonsense_Mutation_p.W317*	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	317					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.W317*(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CGCCTGTGTGCCAGCGCAAGT	0.637																																					p.W317X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G951A	12						.						49.0	55.0	53.0					12																	53722275		2203	4300	6503	52008542	SO:0001587	stop_gained	121340	exon2			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.951G>A	12.37:g.53722275C>T	ENSP00000443827:p.Trp317*		52008542	NM_152860	B3KY26|Q3MJ72|Q7Z718	Nonsense_Mutation	SNP	ENST00000536324.2	37	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149243	0.94645	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4596	0.84032	0.0:1.0:0.0:0.0	.	.	.	.	X	317;317;299	.	ENSP00000302812:W317X	W	-	3	0	SP7	52008542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.754000	0.85163	2.344000	0.79699	0.491000	0.48974	TGG		0.637	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
MAP3K12	7786	broad.mit.edu	37	12	53878118	53878118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:53878118G>A	ENST00000267079.2	-	8	1297	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	MAP3K12_ENST00000547488.1_Nonsense_Mutation_p.R391*|MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547035.1_Nonsense_Mutation_p.R391*	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	358	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R358*(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGATCTGTCGGAATGATGGG	0.493																																					p.R391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1171T	12						.						168.0	115.0	133.0					12																	53878118		2203	4300	6503	52164385	SO:0001587	stop_gained	7786	exon7			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1072C>T	12.37:g.53878118G>A	ENSP00000267079:p.Arg358*		52164385	NM_001193511	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Nonsense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	38	6.771929	0.97825	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	.	.	.	5.27	4.26	0.50523	.	0.000000	0.34268	N	0.004105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.441	0.67318	0.0:0.0:0.818:0.182	.	.	.	.	X	358;391;391	.	ENSP00000267079:R358X	R	-	1	2	MAP3K12	52164385	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.461000	0.45040	2.653000	0.90120	0.561000	0.74099	CGA		0.493	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301	
ATP5G2	517	broad.mit.edu	37	12	54063039	54063039	+	Silent	SNP	G	G	A	rs371876915		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54063039G>A	ENST00000549164.1	-	4	391	c.204C>T	c.(202-204)atC>atT	p.I68I	ATP5G2_ENST00000338662.5_Silent_p.I84I|ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000602871.1_Silent_p.I68I|ATP5G2_ENST00000394349.3_Silent_p.I125I			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	68					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.I84I(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGCTGTGTCGATGTCCCTTG	0.552																																					p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	12						.	G	,	0,4406		0,0,2203	67.0	63.0	64.0		252,375	-8.8	0.2	12		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ATP5G2	NM_001002031.2,NM_005176.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	84/158,125/199	54063039	1,13005	2203	4300	6503	52349306	SO:0001819	synonymous_variant	517	exon4			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.204C>T	12.37:g.54063039G>A			52349306	NM_005176	B3KQQ6	Silent	SNP	ENST00000549164.1	37																																																																																					0.552	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176	
HOXC13	3229	broad.mit.edu	37	12	54339018	54339018	+	Missense_Mutation	SNP	C	C	T	rs201149022	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54339018C>T	ENST00000243056.3	+	2	1127	c.971C>T	c.(970-972)gCg>gTg	p.A324V		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	324					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A324V(1)		breast(1)|large_intestine(1)|skin(1)	3						AAATCGAAAGCGCCTCATCTC	0.582			T	NUP98	AML								C|||	2	0.000399361	0.0	0.0	5008	,	,		13896	0.002		0.0	False		,,,				2504	0.0				p.A324V			Dom	yes		12	12q13.3	3229	homeo box C13		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971T	12						.						71.0	71.0	71.0					12																	54339018		2203	4300	6503	52625285	SO:0001583	missense	3229	exon2				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"""Homeoboxes / ANTP class : HOXL subclass"""	5125	protein-coding gene	gene with protein product		142976	"""homeo box C13"""	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.971C>T	12.37:g.54339018C>T	ENSP00000243056:p.Ala324Val		52625285	NM_017410	Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	CCDS8865.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.84	3.709081	0.68615	.	.	ENSG00000123364	ENST00000243056	D	0.93366	-3.21	5.1	5.1	0.69264	Homeodomain-like (1);	0.390431	0.26627	N	0.023334	D	0.89143	0.6631	L	0.34521	1.04	0.38510	D	0.948454	B	0.30211	0.273	B	0.17098	0.017	D	0.88582	0.3137	10	0.62326	D	0.03	.	17.8201	0.88648	0.0:1.0:0.0:0.0	.	324	P31276	HXC13_HUMAN	V	324	ENSP00000243056:A324V	ENSP00000243056:A324V	A	+	2	0	HOXC13	52625285	0.899000	0.30636	1.000000	0.80357	0.997000	0.91878	5.481000	0.66826	2.825000	0.97269	0.655000	0.94253	GCG		0.582	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2		
HOXC10	3226	broad.mit.edu	37	12	54379432	54379432	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54379432C>A	ENST00000303460.4	+	1	463	c.389C>A	c.(388-390)tCc>tAc	p.S130Y	HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	130					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S130Y(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GCTCTCTACTCCCACCCCTTG	0.642																																					p.S130Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C389A	12						.						39.0	40.0	40.0					12																	54379432		2203	4300	6503	52665699	SO:0001583	missense	3226	exon1				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.389C>A	12.37:g.54379432C>A	ENSP00000307321:p.Ser130Tyr		52665699	NM_017409	O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169658	0.38315	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.92397	-3.03	4.45	4.45	0.53987	.	0.297521	0.38548	N	0.001660	D	0.84790	0.5550	L	0.34521	1.04	0.42219	D	0.991841	B	0.27656	0.184	B	0.09377	0.004	T	0.81293	-0.0998	10	0.05833	T	0.94	.	16.2355	0.82371	0.0:1.0:0.0:0.0	.	130	Q9NYD6	HXC10_HUMAN	Y	18;130	ENSP00000307321:S130Y	ENSP00000307321:S130Y	S	+	2	0	HOXC10	52665699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.066000	0.41452	2.199000	0.70637	0.505000	0.49811	TCC		0.642	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2		
HOXC4	3221	broad.mit.edu	37	12	54447806	54447806	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54447806C>A	ENST00000430889.2	+	1	146	c.100C>A	c.(100-102)Ccg>Acg	p.P34T	HOXC4_ENST00000303406.4_Missense_Mutation_p.P34T|HOXC4_ENST00000609810.1_Missense_Mutation_p.P34T	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	34					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P34T(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TGAACACAGTCCGGAATATTA	0.517																																					p.P34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100A	12						.						129.0	134.0	133.0					12																	54447806		2203	4300	6503	52734073	SO:0001583	missense	3221	exon3				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.100C>A	12.37:g.54447806C>A	ENSP00000399808:p.Pro34Thr		52734073	NM_014620		Missense_Mutation	SNP	ENST00000430889.2	37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871962	0.51695	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.84944	-1.92;-1.92	3.41	3.41	0.39046	.	0.299133	0.30538	N	0.009411	D	0.82291	0.5005	L	0.56340	1.77	0.58432	D	0.999997	P	0.51791	0.948	B	0.43082	0.407	D	0.83824	0.0248	10	0.42905	T	0.14	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	34	P09017	HXC4_HUMAN	T	34	ENSP00000305973:P34T;ENSP00000399808:P34T	ENSP00000305973:P34T	P	+	1	0	HOXC4	52734073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.798000	0.38814	2.187000	0.69744	0.462000	0.41574	CCG		0.517	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1		
SMUG1	23583	broad.mit.edu	37	12	54577615	54577615	+	Missense_Mutation	SNP	C	C	T	rs376491349		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54577615C>T	ENST00000508394.2	-	2	172	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SMUG1_ENST00000505128.1_Missense_Mutation_p.R37Q|SMUG1_ENST00000514685.1_Missense_Mutation_p.R37Q|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000513838.1_Missense_Mutation_p.R37Q|SMUG1_ENST00000337581.3_Missense_Mutation_p.R37Q|SMUG1_ENST00000401977.2_Missense_Mutation_p.R37Q|SMUG1_ENST00000506595.1_Missense_Mutation_p.R37Q|SMUG1_ENST00000514196.1_Missense_Mutation_p.R37Q|SMUG1_ENST00000243112.5_Missense_Mutation_p.R37Q	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	37					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)	p.R37Q(1)		kidney(1)|large_intestine(4)|lung(1)	6						AGCATTGAGCCGAAGCTCCTC	0.597								Base excision repair (BER), DNA glycosylases																													p.R37Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	12						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	47.0	49.0		110	4.0	1.0	12		49	0,8600		0,0,4300	no	missense	SMUG1	NM_014311.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	37/271	54577615	1,13005	2203	4300	6503	52863882	SO:0001583	missense	23583	exon3			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.110G>A	12.37:g.54577615C>T	ENSP00000424191:p.Arg37Gln		52863882	NM_014311	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226290	0.39300	2.27E-4	0.0	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000505128;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338;ENST00000507904;ENST00000503447;ENST00000504797;ENST00000506169;ENST00000503306	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.85	3.96	0.45880	Uracil-DNA glycosylase-like (2);	0.195941	0.44688	D	0.000426	T	0.41190	0.1148	L	0.48642	1.525	0.30799	N	0.740033	P;D;B	0.71674	0.763;0.998;0.239	B;P;B	0.54312	0.044;0.748;0.034	T	0.40232	-0.9574	10	0.22706	T	0.39	.	4.6936	0.12793	0.1737:0.6491:0.0:0.1772	.	37;37;37	Q53HV7;D6RAI1;Q53HV7-2	SMUG1_HUMAN;.;.	Q	37	ENSP00000421206:R37Q;ENSP00000421139:R37Q;ENSP00000421894:R37Q;ENSP00000338606:R37Q;ENSP00000424191:R37Q;ENSP00000423629:R37Q;ENSP00000243112:R37Q;ENSP00000384828:R37Q;ENSP00000425974:R37Q;ENSP00000423083:R37Q;ENSP00000423457:R37Q;ENSP00000421790:R37Q;ENSP00000427547:R37Q;ENSP00000425426:R37Q	ENSP00000243112:R37Q	R	-	2	0	SMUG1	52863882	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.648000	0.37271	1.402000	0.46780	0.591000	0.81541	CGG		0.597	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311	
GPR84	53831	broad.mit.edu	37	12	54756701	54756701	+	Missense_Mutation	SNP	G	G	A	rs139990475		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54756701G>A	ENST00000551809.1	-	1	1570	c.935C>T	c.(934-936)tCg>tTg	p.S312L	GPR84_ENST00000267015.3_Missense_Mutation_p.S312L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S312L(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCCAAATTCCGATGAAGAATC	0.502																																					p.S312L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C935T	12						.	G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	133.0	134.0	134.0		935	4.8	0.0	12	dbSNP_134	134	0,8600		0,0,4300	yes	missense	GPR84	NM_020370.2	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	312/397	54756701	3,13003	2203	4300	6503	53042968	SO:0001583	missense	53831	exon2			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.935C>T	12.37:g.54756701G>A	ENSP00000450310:p.Ser312Leu		53042968	NM_020370	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093319	0.20471	6.81E-4	0.0	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.38887	1.11;1.11	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.324438	0.24879	N	0.034869	T	0.37348	0.1000	L	0.45228	1.405	0.09310	N	0.999998	D	0.53745	0.962	B	0.42495	0.389	T	0.30208	-0.9986	10	0.29301	T	0.29	-1.0246	15.6317	0.76917	0.0:0.0:1.0:0.0	.	312	Q9NQS5	GPR84_HUMAN	L	312	ENSP00000267015:S312L;ENSP00000450310:S312L	ENSP00000267015:S312L	S	-	2	0	GPR84	53042968	0.981000	0.34729	0.033000	0.17914	0.094000	0.18550	4.869000	0.63028	2.359000	0.80004	0.561000	0.74099	TCG		0.502	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
GPR84	53831	broad.mit.edu	37	12	54757609	54757609	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54757609G>T	ENST00000551809.1	-	1	662	c.27C>A	c.(25-27)ttC>ttA	p.F9L	GPR84_ENST00000267015.3_Missense_Mutation_p.F9L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.F9L(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGTAGCAGGAGAAGTTGGCGT	0.527																																					p.F9L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C27A	12						.						94.0	67.0	76.0					12																	54757609		2203	4300	6503	53043876	SO:0001583	missense	53831	exon2			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.27C>A	12.37:g.54757609G>T	ENSP00000450310:p.Phe9Leu		53043876	NM_020370	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545822	0.45280	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.34667	1.35;1.35	4.81	1.78	0.24846	.	0.000000	0.64402	D	0.000001	T	0.37404	0.1002	L	0.29908	0.895	0.47094	D	0.999311	D	0.76494	0.999	D	0.78314	0.991	T	0.26155	-1.0111	10	0.10636	T	0.68	-27.1533	7.0545	0.25091	0.4184:0.0:0.5816:0.0	.	9	Q9NQS5	GPR84_HUMAN	L	9	ENSP00000267015:F9L;ENSP00000450310:F9L	ENSP00000267015:F9L	F	-	3	2	GPR84	53043876	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.753000	0.38359	0.233000	0.21120	0.555000	0.69702	TTC		0.527	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1		
ZNF385A	25946	broad.mit.edu	37	12	54769632	54769632	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54769632G>T	ENST00000338010.5	-	3	307	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	ZNF385A_ENST00000394313.2_Missense_Mutation_p.S65Y|ZNF385A_ENST00000551771.1_Missense_Mutation_p.S65Y|ZNF385A_ENST00000352268.6_Missense_Mutation_p.S85Y|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.S65Y|ZNF385A_ENST00000546970.1_Missense_Mutation_p.S65Y	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	85					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S65Y(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TCTTACCTGAGAATTGAAGCG	0.562																																					p.S65Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C194A	12						.						70.0	62.0	64.0					12																	54769632		2203	4300	6503	53055899	SO:0001583	missense	25946	exon2			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.254C>A	12.37:g.54769632G>T	ENSP00000338927:p.Ser85Tyr		53055899	NM_015481	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227888	0.79576	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000547210;ENST00000550774	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.991;0.996;0.998;0.998	T	0.64833	-0.6314	10	0.87932	D	0	-9.4009	13.2995	0.60317	0.0:0.0:1.0:0.0	.	65;65;65;65;65	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9;F1T0F1	.;.;.;Z385A_HUMAN;.	Y	65;85;65;85;65;65;65;47;65;65	ENSP00000449161:S65Y;ENSP00000293385:S85Y;ENSP00000377849:S65Y;ENSP00000338927:S85Y;ENSP00000446913:S65Y;ENSP00000447162:S65Y;ENSP00000448466:S65Y;ENSP00000448567:S47Y;ENSP00000448264:S65Y;ENSP00000449462:S65Y	ENSP00000338927:S85Y	S	-	2	0	ZNF385A	53055899	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.192000	0.94947	2.068000	0.61886	0.491000	0.48974	TCT		0.562	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481	
ITGA5	3678	broad.mit.edu	37	12	54794765	54794765	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54794765G>A	ENST00000293379.4	-	25	2769	c.2508C>T	c.(2506-2508)ggC>ggT	p.G836G	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	836					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.G836G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGAGCTGGGGCCTTGGTTGA	0.542																																					p.G836G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2508T	12						.						68.0	61.0	64.0					12																	54794765		2203	4300	6503	53081032	SO:0001819	synonymous_variant	3678	exon25				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2508C>T	12.37:g.54794765G>A			53081032	NM_002205	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																				0.542	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
ITGA5	3678	broad.mit.edu	37	12	54805673	54805673	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54805673G>T	ENST00000293379.4	-	2	555	c.294C>A	c.(292-294)ctC>ctA	p.L98L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ITGA5_ENST00000547744.1_5'Flank	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	98					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.L98L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCAAGGACAGAGGTAGACAG	0.607																																					p.L98L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C294A	12						.						59.0	56.0	57.0					12																	54805673		2203	4300	6503	53091940	SO:0001819	synonymous_variant	3678	exon2				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.294C>A	12.37:g.54805673G>T			53091940	NM_002205	Q96HA5	Silent	SNP	ENST00000293379.4	37	CCDS8880.1																																																																																				0.607	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		
NCKAP1L	3071	broad.mit.edu	37	12	54894350	54894350	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54894350G>A	ENST00000293373.6	+	3	326	c.247G>A	c.(247-249)Gag>Aag	p.E83K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E33K|RP11-753H16.3_ENST00000550474.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	83					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.E83K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAAAAAGCCGAGATAATTAG	0.383																																					p.E33K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	12						.						180.0	171.0	174.0					12																	54894350		2203	4300	6503	53180617	SO:0001583	missense	3071	exon3			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.247G>A	12.37:g.54894350G>A	ENSP00000293373:p.Glu83Lys		53180617	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558194	0.86231	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.34472	1.36;1.36	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.73598	2.24	0.58432	D	0.999997	D	0.69078	0.997	P	0.59424	0.857	T	0.61068	-0.7137	10	0.62326	D	0.03	-20.3422	16.5054	0.84271	0.0:0.0:1.0:0.0	.	83	P55160	NCKPL_HUMAN	K	83;33	ENSP00000293373:E83K;ENSP00000445596:E33K	ENSP00000293373:E83K	E	+	1	0	NCKAP1L	53180617	1.000000	0.71417	0.984000	0.44739	0.964000	0.63967	9.051000	0.93849	2.554000	0.86153	0.460000	0.39030	GAG		0.383	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
NCKAP1L	3071	broad.mit.edu	37	12	54902257	54902257	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54902257G>T	ENST00000293373.6	+	5	527	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.D100Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	150					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.D150Y(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACGGATTGAAGATCGGCGGAT	0.418																																					p.D100Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298T	12						.						267.0	247.0	253.0					12																	54902257		2203	4300	6503	53188524	SO:0001583	missense	3071	exon5			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.448G>T	12.37:g.54902257G>T	ENSP00000293373:p.Asp150Tyr		53188524	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014311	0.93404	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37752	1.18;1.18	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.65948	-0.6044	10	0.87932	D	0	-16.5712	18.1531	0.89682	0.0:0.0:1.0:0.0	.	150	P55160	NCKPL_HUMAN	Y	150;100	ENSP00000293373:D150Y;ENSP00000445596:D100Y	ENSP00000293373:D150Y	D	+	1	0	NCKAP1L	53188524	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.490000	0.97952	2.885000	0.99019	0.655000	0.94253	GAT		0.418	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
PDE1B	5153	broad.mit.edu	37	12	54967393	54967393	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:54967393G>A	ENST00000243052.3	+	10	1400	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	PDE1B_ENST00000538346.1_Splice_Site_p.E281K|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Splice_Site_p.E302K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	322	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.E322K(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCGCTCAGAGAACTCCGAGC	0.522																																					p.E322K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964A	12						.						156.0	143.0	148.0					12																	54967393		2203	4300	6503	53253660	SO:0001630	splice_region_variant	5153	exon10			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.963-1G>A	12.37:g.54967393G>A			53253660	NM_000924	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331245	0.95733	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.81247	-1.47;-1.47;-1.47	5.1	5.1	0.69264	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	L	0.48642	1.525	0.80722	D	1	P;P	0.48016	0.883;0.904	P;P	0.56216	0.794;0.792	D	0.85409	0.1136	10	0.62326	D	0.03	.	16.4016	0.83642	0.0:0.0:1.0:0.0	.	302;322	Q01064-2;Q01064	.;PDE1B_HUMAN	K	322;281;302	ENSP00000243052:E322K;ENSP00000442559:E281K;ENSP00000448519:E302K	ENSP00000243052:E322K	E	+	1	0	PDE1B	53253660	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.896000	0.87350	2.549000	0.85964	0.561000	0.74099	GAA		0.522	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1		Missense_Mutation
TESPA1	9840	broad.mit.edu	37	12	55357630	55357630	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55357630C>T	ENST00000449076.1	-	8	683	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	TESPA1_ENST00000316577.8_Missense_Mutation_p.R184Q|TESPA1_ENST00000524622.1_Missense_Mutation_p.R46Q|TESPA1_ENST00000531122.1_Missense_Mutation_p.R46Q|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.R46Q	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	184					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R46Q(1)|p.R184Q(1)									GGTGAAAAATCGGGCGGGTAT	0.517																																					p.R184Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G551A	12						.						116.0	120.0	119.0					12																	55357630		1893	4104	5997	53643897	SO:0001583	missense	9840	exon8			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.551G>A	12.37:g.55357630C>T	ENSP00000400892:p.Arg184Gln		53643897	NM_001098815	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421957	0.96111	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532;ENST00000533446	T;T;T;T;T	0.76839	-1.05;-1.05;-0.39;-0.39;-1.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.87042	0.6079	M	0.68952	2.095	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.87774	0.2607	10	0.87932	D	0	-19.5321	17.0763	0.86587	0.0:1.0:0.0:0.0	.	184	A2RU30	K0748_HUMAN	Q	46;46;184;184;46;46;46;46	ENSP00000435622:R46Q;ENSP00000432030:R46Q;ENSP00000400892:R184Q;ENSP00000312679:R184Q;ENSP00000433098:R46Q	ENSP00000312679:R184Q	R	-	2	0	KIAA0748	53643897	0.991000	0.36638	0.998000	0.56505	0.969000	0.65631	6.989000	0.76219	2.821000	0.97095	0.561000	0.74099	CGA		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
NEUROD4	58158	broad.mit.edu	37	12	55420451	55420451	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55420451G>T	ENST00000242994.3	+	2	606	c.228G>T	c.(226-228)aaG>aaT	p.K76N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	76					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K76N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAAAAAGAAGATGACCAAAG	0.498																																					p.K76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G228T	12						.						59.0	56.0	57.0					12																	55420451		2203	4300	6503	53706718	SO:0001583	missense	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.228G>T	12.37:g.55420451G>T	ENSP00000242994:p.Lys76Asn		53706718	NM_021191	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007962	0.54361	.	.	ENSG00000123307	ENST00000242994	D	0.96232	-3.95	5.37	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.82716	2.605	0.52099	D	0.999947	D	0.71674	0.998	P	0.57425	0.82	D	0.96089	0.9060	10	0.87932	D	0	-13.4445	7.8856	0.29648	0.2529:0.0:0.7471:0.0	.	76	Q9HD90	NDF4_HUMAN	N	76	ENSP00000242994:K76N	ENSP00000242994:K76N	K	+	3	2	NEUROD4	53706718	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.808000	0.38912	0.771000	0.33359	-0.150000	0.13652	AAG		0.498	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
NEUROD4	58158	broad.mit.edu	37	12	55420598	55420598	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55420598G>A	ENST00000242994.3	+	2	753	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K125K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AACTTTCCAAGATAGAGACTC	0.498																																					p.K125K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G375A	12						.						81.0	85.0	84.0					12																	55420598		2203	4300	6503	53706865	SO:0001819	synonymous_variant	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.375G>A	12.37:g.55420598G>A			53706865	NM_021191	B2RAC9	Silent	SNP	ENST00000242994.3	37	CCDS8886.1																																																																																				0.498	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
NEUROD4	58158	broad.mit.edu	37	12	55421035	55421035	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55421035C>A	ENST00000242994.3	+	2	1190	c.812C>A	c.(811-813)cCt>cAt	p.P271H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	271					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P271H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GATGGGTCTCCTGACCTAGAA	0.532																																					p.P271H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812A	12						.						159.0	153.0	155.0					12																	55421035		2203	4300	6503	53707302	SO:0001583	missense	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.812C>A	12.37:g.55421035C>A	ENSP00000242994:p.Pro271His		53707302	NM_021191	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357545	0.82243	.	.	ENSG00000123307	ENST00000242994	D	0.96041	-3.89	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.97360	0.9969	10	0.72032	D	0.01	-11.168	18.0364	0.89305	0.0:1.0:0.0:0.0	.	271	Q9HD90	NDF4_HUMAN	H	271	ENSP00000242994:P271H	ENSP00000242994:P271H	P	+	2	0	NEUROD4	53707302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.082000	0.71318	2.941000	0.99782	0.655000	0.94253	CCT		0.532	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
OR6C6	283365	broad.mit.edu	37	12	55688836	55688836	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55688836G>T	ENST00000358433.2	-	1	180	c.181C>A	c.(181-183)Ctc>Atc	p.L61I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAATTACGGAGAAAGAAATAC	0.388																																					p.L61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	12						.						68.0	71.0	70.0					12																	55688836		2203	4300	6503	53975103	SO:0001583	missense	283365	exon1				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.181C>A	12.37:g.55688836G>T	ENSP00000351211:p.Leu61Ile		53975103	NM_001005493		Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	12.08	1.830366	0.32329	.	.	ENSG00000188324	ENST00000358433	T	0.13778	2.56	4.24	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000924	T	0.35711	0.0941	M	0.83012	2.62	0.18873	N	0.999988	D	0.63046	0.992	P	0.62649	0.905	T	0.16305	-1.0407	10	0.87932	D	0	.	12.0973	0.53763	0.0869:0.0:0.9131:0.0	.	61	A6NF89	OR6C6_HUMAN	I	61	ENSP00000351211:L61I	ENSP00000351211:L61I	L	-	1	0	OR6C6	53975103	0.907000	0.30839	0.423000	0.26634	0.103000	0.19146	0.501000	0.22578	1.132000	0.42129	0.580000	0.79431	CTC		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
OR6C6	283365	broad.mit.edu	37	12	55688976	55688976	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55688976C>T	ENST00000358433.2	-	1	40	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G14E(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATCTGTCAATCCTAGGAGAAT	0.348																																					p.G14E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	12						.						107.0	107.0	107.0					12																	55688976		2203	4300	6503	53975243	SO:0001583	missense	283365	exon1				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.41G>A	12.37:g.55688976C>T	ENSP00000351211:p.Gly14Glu		53975243	NM_001005493		Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	10.82	1.458965	0.26248	.	.	ENSG00000188324	ENST00000358433	T	0.02301	4.35	4.24	4.24	0.50183	.	0.000000	0.45867	D	0.000334	T	0.14960	0.0361	M	0.92784	3.345	0.38962	D	0.958562	D	0.64830	0.994	P	0.62382	0.901	T	0.02546	-1.1143	10	0.87932	D	0	.	13.7506	0.62906	0.0:0.8444:0.1556:0.0	.	14	A6NF89	OR6C6_HUMAN	E	14	ENSP00000351211:G14E	ENSP00000351211:G14E	G	-	2	0	OR6C6	53975243	0.247000	0.23920	0.110000	0.21437	0.011000	0.07611	1.173000	0.31920	2.359000	0.80004	0.580000	0.79431	GGA		0.348	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
OR6C3	254786	broad.mit.edu	37	12	55726054	55726054	+	Nonsense_Mutation	SNP	G	G	A	rs147847006	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55726054G>A	ENST00000379667.1	+	1	570	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	190					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W190*(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						CAGATACATGGCTCCTAGAAG	0.373													G|||	2	0.000399361	0.0	0.0	5008	,	,		21611	0.001		0.001	False		,,,				2504	0.0				p.W190X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G570A	12						.						253.0	246.0	248.0					12																	55726054		2203	4300	6503	54012321	SO:0001587	stop_gained	254786	exon1			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.570G>A	12.37:g.55726054G>A	ENSP00000368989:p.Trp190*		54012321	NM_054104		Nonsense_Mutation	SNP	ENST00000379667.1	37	CCDS31819.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.958	0.746263	0.15710	.	.	ENSG00000205329	ENST00000379667	.	.	.	5.27	2.37	0.29283	.	0.494226	0.17235	N	0.181799	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	3.8498	0.08949	0.0764:0.313:0.3627:0.248	.	.	.	.	X	190	.	ENSP00000368989:W190X	W	+	3	0	OR6C3	54012321	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.590000	0.00899	0.421000	0.25980	0.650000	0.86243	TGG		0.373	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1		
OR6C2	341416	broad.mit.edu	37	12	55846219	55846219	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55846219C>A	ENST00000322678.1	+	1	222	c.222C>A	c.(220-222)gtC>gtA	p.V74V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V74V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTACTACAGTCTGCATTCCCA	0.373																																					p.V74V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222A	12						.						115.0	118.0	117.0					12																	55846219		2203	4300	6503	54132486	SO:0001819	synonymous_variant	341416	exon1			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.222C>A	12.37:g.55846219C>A			54132486	NM_054105		Silent	SNP	ENST00000322678.1	37	CCDS31824.1																																																																																				0.373	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
OR6C70	390327	broad.mit.edu	37	12	55863008	55863008	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55863008C>A	ENST00000327335.4	-	1	914	c.915G>T	c.(913-915)aaG>aaT	p.K305N	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K305N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAGAAAATATCTTTCTAAATA	0.313																																					p.K305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G915T	12						.						42.0	43.0	43.0					12																	55863008		2203	4299	6502	54149275	SO:0001583	missense	390327	exon1				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.915G>T	12.37:g.55863008C>A	ENSP00000329153:p.Lys305Asn		54149275	NM_001005499		Missense_Mutation	SNP	ENST00000327335.4	37	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099271	0.37048	.	.	ENSG00000184954	ENST00000327335	T	0.38887	1.11	4.0	2.16	0.27623	.	0.256722	0.27482	N	0.019165	T	0.28466	0.0704	N	0.25957	0.775	0.09310	N	1	B	0.17268	0.021	B	0.17979	0.02	T	0.27331	-1.0077	10	0.87932	D	0	.	9.0748	0.36515	0.0:0.7921:0.0:0.2079	.	305	A6NIJ9	O6C70_HUMAN	N	305	ENSP00000329153:K305N	ENSP00000329153:K305N	K	-	3	2	OR6C70	54149275	0.001000	0.12720	0.001000	0.08648	0.539000	0.34962	0.207000	0.17395	0.499000	0.27970	0.633000	0.83428	AAG		0.313	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1		
OR6C4	341418	broad.mit.edu	37	12	55945217	55945217	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55945217T>G	ENST00000394256.2	+	1	235	c.207T>G	c.(205-207)atT>atG	p.I69M	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I69M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TCTTAGAAATTTCCTTCACAT	0.413																																					p.I69M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T207G	12						.						113.0	118.0	116.0					12																	55945217		2202	4300	6502	54231484	SO:0001583	missense	341418	exon1			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.207T>G	12.37:g.55945217T>G	ENSP00000377799:p.Ile69Met		54231484	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	ENST00000394256.2	37	CCDS31827.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.730142	0.30684	.	.	ENSG00000179626	ENST00000394256	T	0.04809	3.55	4.77	0.979	0.19745	GPCR, rhodopsin-like superfamily (1);	0.585977	0.15051	N	0.283339	T	0.05823	0.0152	L	0.59912	1.85	0.09310	N	1	B	0.28636	0.218	B	0.32149	0.141	T	0.33266	-0.9875	10	0.72032	D	0.01	.	3.3943	0.07300	0.1243:0.0755:0.256:0.5442	.	69	Q8NGE1	OR6C4_HUMAN	M	69	ENSP00000377799:I69M	ENSP00000377799:I69M	I	+	3	3	OR6C4	54231484	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-1.039000	0.03550	0.353000	0.24079	0.524000	0.50904	ATT		0.413	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
OR6C4	341418	broad.mit.edu	37	12	55945508	55945508	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:55945508C>T	ENST00000394256.2	+	1	526	c.498C>T	c.(496-498)ttC>ttT	p.F166F	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F166L(1)|p.F166F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGTAGATTTCTGTGTCTCCA	0.478																																					p.F166F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.C498T	12						.						132.0	131.0	132.0					12																	55945508		2203	4300	6503	54231775	SO:0001819	synonymous_variant	341418	exon1			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.498C>T	12.37:g.55945508C>T			54231775	NM_001005494	A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	CCDS31827.1																																																																																				0.478	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1		
METTL7B	196410	broad.mit.edu	37	12	56077829	56077829	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56077829A>C	ENST00000394252.3	+	2	940	c.731A>C	c.(730-732)aAa>aCa	p.K244T		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	244							methyltransferase activity (GO:0008168)	p.K194T(1)		kidney(1)|large_intestine(1)|lung(4)	6						AAGGCTGTCAAATAATCTTTC	0.527																																					p.K244T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A731C	12						.						79.0	68.0	72.0					12																	56077829		2203	4300	6503	54364096	SO:0001583	missense	196410	exon2				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.731A>C	12.37:g.56077829A>C	ENSP00000377796:p.Lys244Thr		54364096	NM_152637	A8K247|Q8WUI1	Missense_Mutation	SNP	ENST00000394252.3	37	CCDS8887.2	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943796	0.73672	.	.	ENSG00000170439	ENST00000394252	T	0.59083	0.29	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	M	0.92317	3.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.83710	0.0187	10	0.87932	D	0	-34.9058	11.205	0.48765	1.0:0.0:0.0:0.0	.	244	Q6UX53	MET7B_HUMAN	T	244	ENSP00000377796:K244T	ENSP00000377796:K244T	K	+	2	0	METTL7B	54364096	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.930000	0.87610	1.744000	0.51775	0.459000	0.35465	AAA		0.527	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637	
ITGA7	3679	broad.mit.edu	37	12	56087081	56087081	+	Silent	SNP	C	C	T	rs138301131		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56087081C>T	ENST00000555728.1	-	21	2716	c.2688G>A	c.(2686-2688)tcG>tcA	p.S896S	ITGA7_ENST00000553804.1_Silent_p.S856S|ITGA7_ENST00000394230.2_Silent_p.S856S|ITGA7_ENST00000347027.6_Silent_p.S846S|ITGA7_ENST00000257879.6_Silent_p.S852S|ITGA7_ENST00000257880.7_Silent_p.S896S|ITGA7_ENST00000452168.2_Silent_p.S759S|ITGA7_ENST00000394229.2_Silent_p.S852S			Q13683	ITA7_HUMAN	integrin, alpha 7	896					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)	p.S852S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGTTCTGAGCGACTGGCCTT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		17004	0.0		0.0	False		,,,				2504	0.001				p.S759S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2277A	12						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	57.0	58.0	58.0		2568,2277,2556	-9.7	0.5	12	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	856/1142,759/1045,852/1138	56087081	1,13005	2203	4300	6503	54373348	SO:0001819	synonymous_variant	3679	exon20				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2688G>A	12.37:g.56087081C>T			54373348	NM_001144997	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37																																																																																					0.468	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
DNAJC14	85406	broad.mit.edu	37	12	56221644	56221644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56221644C>A	ENST00000357606.3	-	3	1088	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_5'Flank|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.E267*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.E267*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	267					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E267*(1)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCACAAGTTTCTACGTACTCT	0.522																																					p.E267X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G799T	12						.						93.0	76.0	81.0					12																	56221644		2203	4300	6503	54507911	SO:0001587	stop_gained	85406	exon2			AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.799G>T	12.37:g.56221644C>A	ENSP00000350223:p.Glu267*		54507911	NM_032364	A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Nonsense_Mutation	SNP	ENST00000357606.3	37	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	39	7.849381	0.98525	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	.	.	.	5.18	5.18	0.71444	.	0.198193	0.42682	D	0.000673	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7301	16.5686	0.84605	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	.	E	-	1	0	DNAJC14	54507911	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.577000	0.60922	2.572000	0.86782	0.655000	0.94253	GAA		0.522	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364	
MMP19	4327	broad.mit.edu	37	12	56233466	56233466	+	Missense_Mutation	SNP	C	C	T	rs536616162		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56233466C>T	ENST00000322569.4	-	5	671	c.580G>A	c.(580-582)Gag>Aag	p.E194K	MMP19_ENST00000548629.1_Missense_Mutation_p.E171K|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	194					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E194K(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTCCAGAACTCGTCTTCGTCG	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20234	0.0		0.0	False		,,,				2504	0.0				p.E194K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	12						.						81.0	61.0	67.0					12																	56233466		2203	4300	6503	54519733	SO:0001583	missense	4327	exon5			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.580G>A	12.37:g.56233466C>T	ENSP00000313437:p.Glu194Lys		54519733	NM_002429	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105465	0.77096	.	.	ENSG00000123342	ENST00000322569;ENST00000548629	T;T	0.30714	1.52;1.52	5.22	5.22	0.72569	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.094766	0.64402	D	0.000001	T	0.62109	0.2401	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.69540	-0.5118	10	0.87932	D	0	.	17.7115	0.88323	0.0:1.0:0.0:0.0	.	194	Q99542	MMP19_HUMAN	K	194;171	ENSP00000313437:E194K;ENSP00000446979:E171K	ENSP00000313437:E194K	E	-	1	0	MMP19	54519733	1.000000	0.71417	0.998000	0.56505	0.067000	0.16453	7.288000	0.78691	2.721000	0.93114	0.511000	0.50034	GAG		0.602	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
WIBG	84305	broad.mit.edu	37	12	56296005	56296005	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56296005C>T	ENST00000408946.2	-	3	417	c.266G>A	c.(265-267)cGt>cAt	p.R89H	WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R88H|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	89					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|exon-exon junction complex (GO:0035145)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.R89H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTTCAGGTTACGTTTGGCTGT	0.582																																					p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	12						.						76.0	74.0	75.0					12																	56296005		1981	4162	6143	54582272	SO:0001583	missense	84305	exon3			BC014976	CCDS41795.1, CCDS44916.1	12q13.2	2008-02-05				ENSG00000170473			30258	protein-coding gene	gene with protein product						12438415, 12483225	Standard	NM_032345		Approved	PYM	uc001sif.1	Q9BRP8	OTTHUMG00000170220	ENST00000408946.2:c.266G>A	12.37:g.56296005C>T	ENSP00000386156:p.Arg89His		54582272	NM_001143853	B6ZDM5|Q8IXJ8|Q8N8E7	Missense_Mutation	SNP	ENST00000408946.2	37	CCDS41795.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041020	0.55003	.	.	ENSG00000170473	ENST00000408946;ENST00000398213	T;T	0.34275	1.37;1.38	5.26	3.43	0.39272	.	0.105395	0.64402	D	0.000005	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.003	T	0.18272	-1.0342	10	0.66056	D	0.02	.	9.6866	0.40103	0.1408:0.784:0.0:0.0752	.	89;88	Q9BRP8;Q9BRP8-2	WIBG_HUMAN;.	H	89;88	ENSP00000386156:R89H;ENSP00000381271:R88H	ENSP00000381271:R88H	R	-	2	0	WIBG	54582272	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.822000	0.69265	0.719000	0.32188	0.655000	0.94253	CGT		0.582	WIBG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408079.1	NM_032345	
ESYT1	23344	broad.mit.edu	37	12	56537081	56537081	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56537081C>A	ENST00000394048.5	+	29	3453	c.3189C>A	c.(3187-3189)tcC>tcA	p.S1063S	ESYT1_ENST00000267113.4_Silent_p.S1073S|ESYT1_ENST00000541590.1_Silent_p.S1073S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1063	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.S1063S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGTCTAATTCCTCCTTCATGT	0.567																																					p.S1063S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3189A	12						.						108.0	103.0	104.0					12																	56537081		2203	4300	6503	54823348	SO:0001819	synonymous_variant	23344	exon29			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.3189C>A	12.37:g.56537081C>A			54823348	NM_015292	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	CCDS8904.1																																																																																				0.567	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	
SLC39A5	283375	broad.mit.edu	37	12	56630474	56630474	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56630474C>T	ENST00000266980.4	+	8	1444	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.T384M	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	384					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.T383M(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGATATCACGTGGATGGTC	0.637																																					p.T384M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1151T	12						.						128.0	109.0	115.0					12																	56630474		2203	4300	6503	54916741	SO:0001583	missense	283375	exon8				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1151C>T	12.37:g.56630474C>T	ENSP00000266980:p.Thr384Met		54916741	NM_001135195	B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652237	0.47362	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.49432	0.78;0.78	4.82	3.93	0.45458	.	0.296949	0.28853	N	0.013932	T	0.47414	0.1444	L	0.46157	1.445	0.32509	N	0.537799	D	0.53462	0.96	P	0.50270	0.636	T	0.60712	-0.7209	10	0.59425	D	0.04	-10.51	8.6797	0.34201	0.0:0.8242:0.0:0.1758	.	384	Q6ZMH5	S39A5_HUMAN	M	384	ENSP00000405360:T384M;ENSP00000266980:T384M	ENSP00000266980:T384M	T	+	2	0	SLC39A5	54916741	0.032000	0.19561	0.372000	0.25991	0.197000	0.23852	1.486000	0.35530	1.405000	0.46838	0.561000	0.74099	ACG		0.637	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
SLC39A5	283375	broad.mit.edu	37	12	56631497	56631497	+	Silent	SNP	C	C	T	rs150715610		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56631497C>T	ENST00000266980.4	+	11	1898	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.P535P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	535					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.P534P(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTACTGCCCGTGACCACTG	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14860	0.0		0.0	False		,,,				2504	0.0				p.P535P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1605T	12						.	C	,	1,4401		0,1,2200	24.0	23.0	24.0		1605,1605	2.3	0.7	12	dbSNP_134	24	3,8593		0,3,4295	no	coding-synonymous,coding-synonymous	SLC39A5	NM_001135195.1,NM_173596.2	,	0,4,6495	TT,TC,CC		0.0349,0.0227,0.0308	,	535/541,535/541	56631497	4,12994	2201	4298	6499	54917764	SO:0001819	synonymous_variant	283375	exon11				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1605C>T	12.37:g.56631497C>T			54917764	NM_001135195	B2R808|Q8N6Y3	Silent	SNP	ENST00000266980.4	37	CCDS8912.2																																																																																				0.677	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
COQ10A	93058	broad.mit.edu	37	12	56663986	56663986	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56663986T>C	ENST00000308197.5	+	5	890	c.629T>C	c.(628-630)tTt>tCt	p.F210S	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Missense_Mutation_p.F178S|COQ10A_ENST00000546544.1_Missense_Mutation_p.F193S	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	210						mitochondrial inner membrane (GO:0005743)		p.F210S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						ACCATGTTTTTTGATGAGGTT	0.488																																					p.F210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T629C	12						.						196.0	191.0	193.0					12																	56663986		1980	4143	6123	54950253	SO:0001583	missense	93058	exon5			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.629T>C	12.37:g.56663986T>C	ENSP00000312587:p.Phe210Ser		54950253	NM_144576	Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712061	0.89112	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.29397	1.57;1.61;1.59	4.96	4.96	0.65561	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.68168	-0.5480	10	0.87932	D	0	.	14.057	0.64776	0.0:0.0:0.0:1.0	.	193;215;210	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	S	210;178;193	ENSP00000312587:F210S;ENSP00000407843:F178S;ENSP00000446723:F193S	ENSP00000312587:F210S	F	+	2	0	COQ10A	54950253	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.548000	0.82154	2.217000	0.71921	0.533000	0.62120	TTT		0.488	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576	
STAT2	6773	broad.mit.edu	37	12	56740375	56740375	+	Missense_Mutation	SNP	G	G	A	rs143059589		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56740375G>A	ENST00000314128.4	-	21	1918	c.1895C>T	c.(1894-1896)aCg>aTg	p.T632M	STAT2_ENST00000557235.1_Missense_Mutation_p.T628M|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	632	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T632M(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACCTCCTTCGTGTACGGTTG	0.547																																					p.T628M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1883T	12						.	G	MET/THR,MET/THR	0,4406		0,0,2203	91.0	77.0	82.0		1895,1883	5.7	1.0	12	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	STAT2	NM_005419.3,NM_198332.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	632/852,628/848	56740375	1,13005	2203	4300	6503	55026642	SO:0001583	missense	6773	exon21			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1895C>T	12.37:g.56740375G>A	ENSP00000315768:p.Thr632Met		55026642	NM_198332	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595877	0.86953	0.0	1.16E-4	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.97378	-4.36;-4.36	5.71	5.71	0.89125	SH2 motif (4);	0.048701	0.85682	D	0.000000	D	0.98717	0.9569	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.961;1.0	D	0.99421	1.0933	10	0.87932	D	0	-17.8663	19.0174	0.92900	0.0:0.0:1.0:0.0	.	628;632	G3V2M6;P52630	.;STAT2_HUMAN	M	632;628	ENSP00000315768:T632M;ENSP00000450751:T628M	ENSP00000315768:T632M	T	-	2	0	STAT2	55026642	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	9.535000	0.98064	2.873000	0.98535	0.561000	0.74099	ACG		0.547	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	
SPRYD4	283377	broad.mit.edu	37	12	56862398	56862398	+	Missense_Mutation	SNP	C	C	A	rs148775301		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:56862398C>A	ENST00000338146.5	+	1	98	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	MIP_ENST00000555551.1_Intron	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	8						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S8Y(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TTTGCACGTTCTTTGCGCTTG	0.572																																					p.S8Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23A	12						.	C	TYR/SER	0,4406		0,0,2203	145.0	132.0	136.0		23	2.5	0.0	12	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPRYD4	NM_207344.3	144	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	8/208	56862398	1,13005	2203	4300	6503	55148665	SO:0001583	missense	283377	exon1			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.23C>A	12.37:g.56862398C>A	ENSP00000338034:p.Ser8Tyr		55148665	NM_207344	A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816796	0.32145	0.0	1.16E-4	ENSG00000176422	ENST00000338146	T	0.64803	-0.12	5.36	2.45	0.29901	.	0.952345	0.08818	N	0.889240	T	0.46464	0.1394	N	0.22421	0.69	0.09310	N	1	B	0.32693	0.38	B	0.31016	0.123	T	0.33599	-0.9862	10	0.49607	T	0.09	-0.0183	7.7856	0.29091	0.0:0.5897:0.3235:0.0868	.	8	Q8WW59	SPRY4_HUMAN	Y	8	ENSP00000338034:S8Y	ENSP00000338034:S8Y	S	+	2	0	SPRYD4	55148665	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	0.215000	0.17562	0.308000	0.22923	-0.300000	0.09419	TCT		0.572	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344	
BAZ2A	11176	broad.mit.edu	37	12	57005692	57005692	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57005692T>G	ENST00000551812.1	-	6	1673	c.1480A>C	c.(1480-1482)Aaa>Caa	p.K494Q	BAZ2A_ENST00000549884.1_Missense_Mutation_p.K492Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.K464Q|BAZ2A_ENST00000179765.5_Missense_Mutation_p.K462Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	494					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K494Q(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAGAGGCTTTTGGGGATGTC	0.542																																					p.K494Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1480C	12						.						49.0	52.0	51.0					12																	57005692		1944	4154	6098	55291959	SO:0001583	missense	11176	exon6			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1480A>C	12.37:g.57005692T>G	ENSP00000446880:p.Lys494Gln		55291959	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.244|8.244	0.807579|0.807579	0.16467|0.16467	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884|ENST00000551996	T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2|.	5.09|5.09	2.68|2.68	0.31781|0.31781	.|.	0.750279|.	0.12806|.	N|.	0.437571|.	T|T	0.10078|0.10078	0.0247|0.0247	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.21793|0.21793	-1.0235|-1.0235	10|5	0.08599|.	T|.	0.76|.	.|.	1.5553|1.5553	0.02583|0.02583	0.1607:0.0959:0.2651:0.4783|0.1607:0.0959:0.2651:0.4783	.|.	492;494|.	F8VU39;Q9UIF9|.	.;BAZ2A_HUMAN|.	Q|H	464;462;494;492|141	ENSP00000368754:K464Q;ENSP00000179765:K462Q;ENSP00000446880:K494Q;ENSP00000447941:K492Q|.	ENSP00000179765:K462Q|.	K|Q	-|-	1|3	0|2	BAZ2A|BAZ2A	55291959|55291959	0.005000|0.005000	0.15991|0.15991	0.192000|0.192000	0.23308|0.23308	0.817000|0.817000	0.46193|0.46193	0.445000|0.445000	0.21677|0.21677	0.944000|0.944000	0.37579|0.37579	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
TAC3	6866	broad.mit.edu	37	12	57407147	57407147	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57407147C>T	ENST00000458521.2	-	4	393	c.234G>A	c.(232-234)gaG>gaA	p.E78E	TAC3_ENST00000415231.1_Silent_p.E78E|TAC3_ENST00000441881.1_Silent_p.E78E	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	78					female pregnancy (GO:0007565)|neuropeptide signaling pathway (GO:0007218)|tachykinin receptor signaling pathway (GO:0007217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.E78E(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACTTACGTTTCTCGGGAGATG	0.522																																					p.E78E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G234A	12						.						148.0	132.0	138.0					12																	57407147		2203	4300	6503	55693414	SO:0001819	synonymous_variant	6866	exon4			AF186112	CCDS8928.1, CCDS53803.1	12q13-q21	2013-02-26	2008-07-31		ENSG00000166863	ENSG00000166863		"""Endogenous ligands"""	11521	protein-coding gene	gene with protein product	"""preprotachykinin-B"""	162330	"""neuromedin K"", ""neurokinin beta"""	NKNB		3479225, 10866201	Standard	NM_013251		Approved	ZNEUROK1, NKB	uc001smp.3	Q9UHF0	OTTHUMG00000156958	ENST00000458521.2:c.234G>A	12.37:g.57407147C>T			55693414	NM_001178054	Q6IAG2|Q71BC6|Q71BC9	Silent	SNP	ENST00000458521.2	37	CCDS8928.1																																																																																				0.522	TAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346793.1	NM_001006667	
MYO1A	4640	broad.mit.edu	37	12	57424932	57424932	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57424932C>A	ENST00000442789.2	-	24	2663	c.2376G>T	c.(2374-2376)aaG>aaT	p.K792N	TAC3_ENST00000415231.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.K792N|MYO1A_ENST00000544473.1_Missense_Mutation_p.K630N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	792					microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K792N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GCAAATTGTTCTTCAGCCCCA	0.522																																					p.K792N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2376T	12						.						106.0	98.0	100.0					12																	57424932		2203	4300	6503	55711199	SO:0001583	missense	4640	exon23			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2376G>T	12.37:g.57424932C>A	ENSP00000393392:p.Lys792Asn		55711199	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058404	0.76074	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87650	-2.23;-2.23;-2.28	4.66	4.66	0.58398	.	0.116780	0.56097	D	0.000037	D	0.84866	0.5567	M	0.71581	2.175	0.43179	D	0.994996	P	0.36282	0.546	B	0.31812	0.136	D	0.86425	0.1757	10	0.56958	D	0.05	.	13.0595	0.59000	0.0:1.0:0.0:0.0	.	792	Q9UBC5	MYO1A_HUMAN	N	792;792;630	ENSP00000300119:K792N;ENSP00000393392:K792N;ENSP00000440514:K630N	ENSP00000300119:K792N	K	-	3	2	MYO1A	55711199	0.998000	0.40836	0.974000	0.42286	0.990000	0.78478	1.859000	0.39418	2.123000	0.65237	0.563000	0.77884	AAG		0.522	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
MYO1A	4640	broad.mit.edu	37	12	57430157	57430157	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57430157C>A	ENST00000442789.2	-	23	2570	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Missense_Mutation_p.K761N|MYO1A_ENST00000544473.1_Missense_Mutation_p.K599N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	761	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K761N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCGATAATTCTTTCGGGCCT	0.453																																					p.K761N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2283T	12						.						105.0	107.0	107.0					12																	57430157		2203	4300	6503	55716424	SO:0001583	missense	4640	exon22			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2283G>T	12.37:g.57430157C>A	ENSP00000393392:p.Lys761Asn		55716424	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065002	0.55432	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.37058	1.22;1.22;1.22	4.79	4.79	0.61399	.	0.397164	0.26251	N	0.025450	T	0.55625	0.1932	M	0.79475	2.455	0.42246	D	0.991958	D	0.69078	0.997	D	0.63793	0.918	T	0.53380	-0.8447	10	0.24483	T	0.36	.	13.2045	0.59787	0.0:1.0:0.0:0.0	.	761	Q9UBC5	MYO1A_HUMAN	N	761;761;599	ENSP00000300119:K761N;ENSP00000393392:K761N;ENSP00000440514:K599N	ENSP00000300119:K761N	K	-	3	2	MYO1A	55716424	0.987000	0.35691	1.000000	0.80357	0.642000	0.38348	1.932000	0.40143	2.484000	0.83849	0.563000	0.77884	AAG		0.453	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
MYO1A	4640	broad.mit.edu	37	12	57441147	57441147	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57441147T>C	ENST00000442789.2	-	6	657	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	MYO1A_ENST00000300119.3_Missense_Mutation_p.K124E|MYO1A_ENST00000544473.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	124	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K124E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCTCTCCTTTCCCACAGACG	0.577																																					p.K124E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A370G	12						.						88.0	79.0	82.0					12																	57441147		2203	4300	6503	55727414	SO:0001583	missense	4640	exon5			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.370A>G	12.37:g.57441147T>C	ENSP00000393392:p.Lys124Glu		55727414	NM_005379	Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889494	0.72524	.	.	ENSG00000166866	ENST00000300119;ENST00000442789	D;D	0.87179	-2.22;-2.22	5.19	2.6	0.31112	Myosin head, motor domain (2);	0.049980	0.85682	D	0.000000	D	0.89497	0.6732	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86236	0.1640	10	0.35671	T	0.21	.	6.5204	0.22272	0.0:0.0857:0.1554:0.7588	.	124	Q9UBC5	MYO1A_HUMAN	E	124	ENSP00000300119:K124E;ENSP00000393392:K124E	ENSP00000300119:K124E	K	-	1	0	MYO1A	55727414	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.083000	0.57643	0.901000	0.36495	0.533000	0.62120	AAA		0.577	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	
TMEM194A	23306	broad.mit.edu	37	12	57453782	57453782	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57453782C>A	ENST00000300128.4	-	9	1238	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	TMEM194A_ENST00000379391.3_Missense_Mutation_p.E332D	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	405						integral component of membrane (GO:0016021)		p.E332D(1)|p.E405D(1)		endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATACTCCTGCTCATGGACAG	0.448																																					p.E332D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G996T	12						.						101.0	91.0	94.0					12																	57453782		2203	4300	6503	55740049	SO:0001583	missense	23306	exon8			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.1215G>T	12.37:g.57453782C>A	ENSP00000300128:p.Glu405Asp		55740049	NM_015257	Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017562	0.54576	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.52983	0.72;0.64	5.61	3.78	0.43462	.	0.288557	0.38663	N	0.001607	T	0.55194	0.1905	L	0.54323	1.7	0.39620	D	0.97001	P;D	0.67145	0.726;0.996	B;P	0.59056	0.222;0.851	T	0.53697	-0.8402	10	0.37606	T	0.19	-13.1948	9.8949	0.41311	0.0:0.833:0.0:0.167	.	405;332	O14524;O14524-2	T194A_HUMAN;.	D	332;405	ENSP00000368701:E332D;ENSP00000300128:E405D	ENSP00000300128:E405D	E	-	3	2	TMEM194A	55740049	0.640000	0.27243	1.000000	0.80357	0.997000	0.91878	-0.195000	0.09546	0.718000	0.32166	0.561000	0.74099	GAG		0.448	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257	
TMEM194A	23306	broad.mit.edu	37	12	57466683	57466683	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57466683A>G	ENST00000300128.4	-	2	163	c.140T>C	c.(139-141)gTa>gCa	p.V47A	TMEM194A_ENST00000379391.3_Missense_Mutation_p.V47A|TMEM194A_ENST00000553654.1_5'UTR	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	47						integral component of membrane (GO:0016021)		p.V47A(2)		endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACCACATTTACATCAGTTTC	0.338																																					p.V47A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T140C	12						.						111.0	93.0	99.0					12																	57466683		2203	4300	6503	55752950	SO:0001583	missense	23306	exon2			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.140T>C	12.37:g.57466683A>G	ENSP00000300128:p.Val47Ala		55752950	NM_015257	Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	A	6.746	0.506383	0.12883	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.44482	0.92;0.94	5.05	2.7	0.31948	.	1.614940	0.03661	N	0.242604	T	0.30103	0.0754	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.0;0.005	T	0.17592	-1.0364	10	0.07990	T	0.79	1.7095	3.3021	0.06987	0.6447:0.0:0.1848:0.1705	.	47;47	O14524;O14524-2	T194A_HUMAN;.	A	47	ENSP00000368701:V47A;ENSP00000300128:V47A	ENSP00000300128:V47A	V	-	2	0	TMEM194A	55752950	0.000000	0.05858	0.001000	0.08648	0.426000	0.31534	-0.161000	0.10026	0.405000	0.25532	0.482000	0.46254	GTA		0.338	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257	
LRP1	4035	broad.mit.edu	37	12	57548340	57548340	+	Silent	SNP	C	C	T	rs147797119	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57548340C>T	ENST00000243077.3	+	8	1549	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	LRP1_ENST00000554174.1_Silent_p.L361L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	361					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.L361L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCAAGCTCGTCGACAGCA	0.517													C|||	2	0.000399361	0.0	0.0	5008	,	,		22890	0.002		0.0	False		,,,				2504	0.0				p.L361L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1083T	12						.	C		2,4404	4.2+/-10.8	0,2,2201	116.0	81.0	93.0		1083	0.5	1.0	12	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP1	NM_002332.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		361/4545	57548340	4,13002	2203	4300	6503	55834607	SO:0001819	synonymous_variant	4035	exon8			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1083C>T	12.37:g.57548340C>T			55834607	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.517	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	broad.mit.edu	37	12	57584742	57584742	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57584742G>A	ENST00000243077.3	+	43	7652	c.7186G>A	c.(7186-7188)Gcc>Acc	p.A2396T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2396					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A2396T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCTCTGACGCCACCCTGGA	0.642																																					p.A2396T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7186A	12						.						91.0	72.0	78.0					12																	57584742		2203	4300	6503	55871009	SO:0001583	missense	4035	exon43			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7186G>A	12.37:g.57584742G>A	ENSP00000243077:p.Ala2396Thr		55871009	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.514981	0.85389	.	.	ENSG00000123384	ENST00000243077	D	0.96427	-4.01	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	D	0.95538	0.8550	M	0.81497	2.545	0.80722	D	1	B	0.33807	0.426	B	0.28709	0.093	D	0.95507	0.8582	10	0.56958	D	0.05	.	17.1266	0.86716	0.0:0.0:1.0:0.0	.	2396	Q07954	LRP1_HUMAN	T	2396	ENSP00000243077:A2396T	ENSP00000243077:A2396T	A	+	1	0	LRP1	55871009	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	9.636000	0.98440	2.560000	0.86352	0.537000	0.68136	GCC		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LRP1	4035	broad.mit.edu	37	12	57586646	57586646	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57586646G>A	ENST00000243077.3	+	45	7914	c.7448G>A	c.(7447-7449)cGa>cAa	p.R2483Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2483	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R2483Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTCCATGCCGAATCAACAAC	0.607																																					p.R2483Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7448A	12						.						174.0	132.0	147.0					12																	57586646		2203	4300	6503	55872913	SO:0001583	missense	4035	exon45			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7448G>A	12.37:g.57586646G>A	ENSP00000243077:p.Arg2483Gln		55872913	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438694	0.43326	.	.	ENSG00000123384	ENST00000243077	D	0.86694	-2.16	4.3	4.3	0.51218	Six-bladed beta-propeller, TolB-like (1);Epidermal growth factor-like (1);	0.081814	0.48767	D	0.000176	T	0.75817	0.3901	L	0.28192	0.835	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.67787	-0.5580	10	0.12430	T	0.62	.	9.4805	0.38898	0.0988:0.0:0.9012:0.0	.	2483	Q07954	LRP1_HUMAN	Q	2483	ENSP00000243077:R2483Q	ENSP00000243077:R2483Q	R	+	2	0	LRP1	55872913	0.876000	0.30132	0.973000	0.42090	0.907000	0.53573	2.316000	0.43761	2.243000	0.73865	0.514000	0.50259	CGA		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
SHMT2	6472	broad.mit.edu	37	12	57626051	57626051	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57626051C>T	ENST00000328923.3	+	5	1022	c.570C>T	c.(568-570)ttC>ttT	p.F190F	SHMT2_ENST00000393827.4_Missense_Mutation_p.S85L|SHMT2_ENST00000449049.3_Silent_p.F169F|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Silent_p.F169F|SHMT2_ENST00000553474.1_Silent_p.F169F|SHMT2_ENST00000557487.1_Silent_p.F190F	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	190					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)	p.F190F(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CCATCTTCTTCGAGTCTATGC	0.587																																					p.F169F	Esophageal Squamous(150;1369 2416 49071 49364)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	12						.						166.0	136.0	146.0					12																	57626051		2203	4300	6503	55912318	SO:0001819	synonymous_variant	6472	exon5			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.570C>T	12.37:g.57626051C>T			55912318	NM_001166359	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537921	0.65085	.	.	ENSG00000182199	ENST00000393827	T	0.30981	1.51	4.95	-9.0	0.00747	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10683	-1.0619	8	0.59425	D	0.04	-2.2021	19.8812	0.96900	0.0:0.1145:0.0:0.8855	.	85	B4DLV4	.	L	85	ENSP00000377413:S85L	ENSP00000377413:S85L	S	+	2	0	SHMT2	55912318	0.186000	0.23225	0.449000	0.26957	0.984000	0.73092	-0.473000	0.06615	-2.087000	0.00862	-0.793000	0.03317	TCG		0.587	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412	
INHBC	3626	broad.mit.edu	37	12	57843533	57843533	+	Missense_Mutation	SNP	G	G	A	rs149645850		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57843533G>A	ENST00000309668.2	+	2	914	c.787G>A	c.(787-789)Gac>Aac	p.D263N		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	263					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)	p.D263N(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGGCTGGCACGACTGGATCAT	0.547																																					p.D263N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G787A	12						.	G	ASN/ASP	0,4406		0,0,2203	86.0	73.0	77.0		787	4.1	1.0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	INHBC	NM_005538.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	263/353	57843533	1,13005	2203	4300	6503	56129800	SO:0001583	missense	3626	exon2				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.787G>A	12.37:g.57843533G>A	ENSP00000308716:p.Asp263Asn		56129800	NM_005538	A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596771	0.66332	0.0	1.16E-4	ENSG00000175189	ENST00000309668	T	0.64618	-0.11	4.09	4.09	0.47781	Transforming growth factor-beta, C-terminal (3);	0.048820	0.85682	D	0.000000	T	0.76263	0.3963	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	P	0.60682	0.878	T	0.78492	-0.2183	9	.	.	.	-24.0494	16.2822	0.82697	0.0:0.0:1.0:0.0	.	263	P55103	INHBC_HUMAN	N	263	ENSP00000308716:D263N	.	D	+	1	0	INHBC	56129800	1.000000	0.71417	0.970000	0.41538	0.146000	0.21551	7.773000	0.85462	2.591000	0.87537	0.650000	0.86243	GAC		0.547	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538	
ARHGAP9	64333	broad.mit.edu	37	12	57873164	57873164	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57873164C>T	ENST00000356411.2	-	2	164	c.26G>A	c.(25-27)aGt>aAt	p.S9N	ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S9N|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S9N|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S88N|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.S80N			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	9					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.S9N(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCCCCAGGAACTTGGCCACCA	0.602																																					p.S9N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	12						.						28.0	29.0	29.0					12																	57873164		2203	4300	6503	56159431	SO:0001583	missense	64333	exon2			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.26G>A	12.37:g.57873164C>T	ENSP00000348782:p.Ser9Asn		56159431	NM_032496	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37		.	.	.	.	.	.	.	.	.	.	C	15.86	2.958137	0.53400	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.27720	3.01;3.0;1.65;2.95	4.93	3.09	0.35607	.	0.207462	0.32901	N	0.005518	T	0.24470	0.0593	N	0.24115	0.695	0.23198	N	0.998137	P;B;B;B;B	0.51791	0.948;0.001;0.421;0.001;0.001	P;B;B;B;B	0.48738	0.588;0.008;0.107;0.006;0.003	T	0.06716	-1.0811	10	0.87932	D	0	.	6.4608	0.21956	0.1794:0.7259:0.0:0.0946	.	9;88;9;9;9	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	N	9;9;9;80;58	ENSP00000377380:S9N;ENSP00000348782:S9N;ENSP00000394307:S9N;ENSP00000377386:S80N	ENSP00000344852:S58N	S	-	2	0	ARHGAP9	56159431	0.172000	0.23043	1.000000	0.80357	0.989000	0.77384	0.595000	0.24029	0.584000	0.29591	-0.136000	0.14681	AGT		0.602	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
MARS	4141	broad.mit.edu	37	12	57884088	57884088	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57884088G>A	ENST00000262027.5	+	6	723	c.589G>A	c.(589-591)Gct>Act	p.A197T	MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	197	GST C-terminal.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.A197T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGGTGTCCTGGCTCTCCGGCC	0.597																																					p.A197T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589A	12						.						116.0	124.0	121.0					12																	57884088		2203	4300	6503	56170355	SO:0001583	missense	4141	exon6			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.589G>A	12.37:g.57884088G>A	ENSP00000262027:p.Ala197Thr		56170355	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.191499|5.191499	0.94923|0.94923	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000262027|ENST00000552371	T|.	0.79653|.	-1.29|.	4.53|4.53	4.53|4.53	0.55603|0.55603	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.210898|.	0.38778|.	N|.	0.001568|.	T|.	0.58935|.	0.2157|.	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P;P|.	0.44734|.	0.842;0.563|.	B;B|.	0.40329|.	0.326;0.09|.	T|.	0.54970|.	-0.8213|.	10|.	0.72032|.	D|.	0.01|.	-12.9119|-12.9119	16.5751|16.5751	0.84634|0.84634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	70;197|.	B4E0E9;P56192|.	.;SYMC_HUMAN|.	T|X	197|68	ENSP00000262027:A197T|.	ENSP00000262027:A197T|.	A|W	+|+	1|3	0|0	MARS|MARS	56170355|56170355	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	5.079000|5.079000	0.64431|0.64431	2.520000|2.520000	0.84964|0.84964	0.514000|0.514000	0.50259|0.50259	GCT|TGG		0.597	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
MARS	4141	broad.mit.edu	37	12	57910233	57910233	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57910233G>T	ENST00000262027.5	+	21	2706	c.2572G>T	c.(2572-2574)Gaa>Taa	p.E858*	RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	858	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.E858*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CATTGTCCGAGAACTGAAAGC	0.498																																					p.E858X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2572T	12						.						63.0	62.0	62.0					12																	57910233		2203	4300	6503	56196500	SO:0001587	stop_gained	4141	exon21			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2572G>T	12.37:g.57910233G>T	ENSP00000262027:p.Glu858*		56196500	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Nonsense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502264	0.64298	.	.	ENSG00000166986	ENST00000262027;ENST00000552914	.	.	.	5.47	5.47	0.80525	.	0.179817	0.46442	D	0.000286	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-16.6303	14.7373	0.69424	0.0:0.1456:0.8544:0.0	.	.	.	.	X	858;177	.	ENSP00000262027:E858X	E	+	1	0	MARS	56196500	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.525000	0.53502	2.746000	0.94184	0.561000	0.74099	GAA		0.498	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
KIF5A	3798	broad.mit.edu	37	12	57957931	57957931	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57957931G>A	ENST00000455537.2	+	4	606	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	111	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R111Q(1)|p.R111L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCATTCCTCGAATTGCCCGA	0.527																																					p.R111Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G332A	12						.						108.0	91.0	96.0					12																	57957931		2203	4300	6503	56244198	SO:0001583	missense	3798	exon4			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.332G>A	12.37:g.57957931G>A	ENSP00000408979:p.Arg111Gln		56244198	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	36	5.741314	0.96873	.	.	ENSG00000155980	ENST00000455537	T	0.76186	-1.0	4.87	4.87	0.63330	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90848	0.4729	10	0.87932	D	0	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	111	Q12840	KIF5A_HUMAN	Q	111	ENSP00000408979:R111Q	ENSP00000408979:R111Q	R	+	2	0	KIF5A	56244198	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.431000	0.97494	2.691000	0.91804	0.655000	0.94253	CGA		0.527	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57958276C>T	ENST00000455537.2	+	5	704	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R55C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	144	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.R144C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418																																					p.R144C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430T	12						.						155.0	157.0	156.0					12																	57958276		2203	4300	6503	56244543	SO:0001583	missense	3798	exon5			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.430C>T	12.37:g.57958276C>T	ENSP00000408979:p.Arg144Cys		56244543	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072439	0.76415	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.74209	-0.82;-0.82	5.05	5.05	0.67936	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90267	0.4305	10	0.87932	D	0	.	12.7656	0.57391	0.1641:0.8359:0.0:0.0	.	55;144	B7Z2M7;Q12840	.;KIF5A_HUMAN	C	144;55	ENSP00000408979:R144C;ENSP00000286452:R55C	ENSP00000286452:R55C	R	+	1	0	KIF5A	56244543	0.864000	0.29904	0.999000	0.59377	0.991000	0.79684	1.642000	0.37207	2.793000	0.96121	0.655000	0.94253	CGT		0.418	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
KIF5A	3798	broad.mit.edu	37	12	57969442	57969442	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57969442C>T	ENST00000455537.2	+	17	2199	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	KIF5A_ENST00000286452.5_Missense_Mutation_p.S553L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	642					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.S642L(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGATCCGCTCGCTTACGGAA	0.557																																					p.S642L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1925T	12						.						136.0	128.0	131.0					12																	57969442		2203	4300	6503	56255709	SO:0001583	missense	3798	exon17			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1925C>T	12.37:g.57969442C>T	ENSP00000408979:p.Ser642Leu		56255709	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247897	0.80024	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.81499	-1.5;-1.5	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.83384	2.64	0.80722	D	1	D;D	0.76494	0.998;0.999	D;P	0.64042	0.921;0.877	D	0.90605	0.4547	10	0.59425	D	0.04	.	16.2291	0.82321	0.0:1.0:0.0:0.0	.	553;642	B7Z2M7;Q12840	.;KIF5A_HUMAN	L	642;553	ENSP00000408979:S642L;ENSP00000286452:S553L	ENSP00000286452:S553L	S	+	2	0	KIF5A	56255709	1.000000	0.71417	0.944000	0.38274	0.919000	0.55068	5.779000	0.68948	2.440000	0.82611	0.655000	0.94253	TCG		0.557	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
KIF5A	3798	broad.mit.edu	37	12	57969534	57969534	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:57969534G>A	ENST00000455537.2	+	17	2291	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T	KIF5A_ENST00000286452.5_Missense_Mutation_p.A584T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	673					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A673T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGCTCCAGGCCCAGGGTGA	0.507																																					p.A673T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2017A	12						.						151.0	147.0	148.0					12																	57969534		2203	4300	6503	56255801	SO:0001583	missense	3798	exon17			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2017G>A	12.37:g.57969534G>A	ENSP00000408979:p.Ala673Thr		56255801	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766671	0.69878	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.85773	-2.03;-2.03	4.52	4.52	0.55395	.	0.217974	0.38272	N	0.001742	D	0.85673	0.5751	M	0.70275	2.135	0.41042	D	0.985233	B;B	0.21821	0.061;0.061	B;B	0.31245	0.126;0.099	T	0.83172	-0.0093	10	0.34782	T	0.22	.	16.5706	0.84611	0.0:0.0:1.0:0.0	.	584;673	B7Z2M7;Q12840	.;KIF5A_HUMAN	T	673;584	ENSP00000408979:A673T;ENSP00000286452:A584T	ENSP00000286452:A584T	A	+	1	0	KIF5A	56255801	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.994000	0.93529	2.517000	0.84864	0.655000	0.94253	GCC		0.507	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
DTX3	196403	broad.mit.edu	37	12	58000803	58000803	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58000803G>A	ENST00000548198.1	+	3	1661	c.157G>A	c.(157-159)Gag>Aag	p.E53K	DTX3_ENST00000548804.1_Missense_Mutation_p.E53K|DTX3_ENST00000551632.1_Missense_Mutation_p.E56K|DTX3_ENST00000337737.3_Missense_Mutation_p.E53K			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	53					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E53K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CATAGATGGCGAGACTTCTGA	0.622																																					p.E53K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	12						.						126.0	134.0	131.0					12																	58000803		1912	4123	6035	56287070	SO:0001583	missense	196403	exon5			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.157G>A	12.37:g.58000803G>A	ENSP00000447873:p.Glu53Lys		56287070	NM_178502	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657081	0.67586	.	.	ENSG00000178498	ENST00000548804;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.62232	0.81;0.04;0.81;0.81;0.8;0.07	4.02	4.02	0.46733	.	0.079738	0.47455	D	0.000230	T	0.64768	0.2628	N	0.19112	0.55	0.49483	D	0.999795	D	0.67145	0.996	D	0.68621	0.959	T	0.69232	-0.5199	10	0.56958	D	0.05	-3.044	14.0354	0.64642	0.0:0.0:1.0:0.0	.	53	Q8N9I9	DTX3_HUMAN	K	53;56;53;53;56;46	ENSP00000449294:E53K;ENSP00000449688:E56K;ENSP00000338050:E53K;ENSP00000447873:E53K;ENSP00000448696:E56K;ENSP00000448224:E46K	ENSP00000338050:E53K	E	+	1	0	DTX3	56287070	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.651000	0.83577	1.966000	0.57179	0.462000	0.41574	GAG		0.622	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502	
SLC26A10	65012	broad.mit.edu	37	12	58014221	58014221	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58014221G>T	ENST00000320442.4	+	1	529	c.218G>T	c.(217-219)aGa>aTa	p.R73I	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Missense_Mutation_p.R73I|AC025165.8_ENST00000356672.3_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	73						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.R73I(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGTACTGGGAGACACCTGTCC	0.527																																					p.R73I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218T	12						.						274.0	272.0	272.0					12																	58014221		2203	4300	6503	56300488	SO:0001583	missense	65012	exon1				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.218G>T	12.37:g.58014221G>T	ENSP00000320217:p.Arg73Ile		56300488	NM_133489	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	20.7	4.041249	0.75732	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.92805	-3.11;-3.11	4.71	4.71	0.59529	.	.	.	.	.	D	0.96244	0.8775	M	0.92507	3.315	0.45056	D	0.998079	D	0.71674	0.998	D	0.72982	0.979	D	0.96083	0.9055	9	0.87932	D	0	.	9.0075	0.36120	0.098:0.0:0.902:0.0	.	73	Q8NG04	S2610_HUMAN	I	73	ENSP00000320217:R73I;ENSP00000368520:R73I	ENSP00000320217:R73I	R	+	2	0	SLC26A10	56300488	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.918000	0.63376	2.620000	0.88729	0.655000	0.94253	AGA		0.527	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		
SLC26A10	65012	broad.mit.edu	37	12	58016351	58016351	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58016351G>A	ENST00000320442.4	+	5	1029	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	AC025165.8_ENST00000593846.1_RNA|SLC26A10_ENST00000379218.2_Missense_Mutation_p.A240T	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	240						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.A240T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GGTGCTTCTGGCCTCCGTGCT	0.512											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A240T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	12						.						360.0	341.0	347.0					12																	58016351		2203	4300	6503	56302618	SO:0001583	missense	65012	exon5				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.718G>A	12.37:g.58016351G>A	ENSP00000320217:p.Ala240Thr	1027	56302618	NM_133489	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	25.2	4.616591	0.87359	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.93488	-3.23;-3.23	4.2	3.21	0.36854	Sulphate transporter (1);	.	.	.	.	D	0.93713	0.7991	L	0.37897	1.145	0.41946	D	0.990638	D	0.89917	1.0	D	0.91635	0.999	D	0.92296	0.5845	9	0.40728	T	0.16	.	11.5314	0.50612	0.0:0.1833:0.8167:0.0	.	240	Q8NG04	S2610_HUMAN	T	240	ENSP00000320217:A240T;ENSP00000368520:A240T	ENSP00000320217:A240T	A	+	1	0	SLC26A10	56302618	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	4.707000	0.61852	2.258000	0.74832	0.655000	0.94253	GCC		0.512	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		
OS9	10956	broad.mit.edu	37	12	58111685	58111685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58111685C>T	ENST00000315970.7	+	10	1119	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	OS9_ENST00000551035.1_Nonsense_Mutation_p.R328*|OS9_ENST00000413095.2_Nonsense_Mutation_p.R154*|OS9_ENST00000389142.5_Nonsense_Mutation_p.R360*|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Nonsense_Mutation_p.R360*|OS9_ENST00000389146.6_Nonsense_Mutation_p.R360*|OS9_ENST00000257966.8_Nonsense_Mutation_p.R361*|OS9_ENST00000435406.2_Nonsense_Mutation_p.R308*|OS9_ENST00000439210.2_Nonsense_Mutation_p.R301*	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	360					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.R360*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAAGTCATTCGAAGCCCTGC	0.383																																					p.R360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1078T	12						.						114.0	121.0	119.0					12																	58111685		2203	4300	6503	56397952	SO:0001587	stop_gained	10956	exon10			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1078C>T	12.37:g.58111685C>T	ENSP00000318165:p.Arg360*		56397952	NM_001017958	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Nonsense_Mutation	SNP	ENST00000315970.7	37	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672301	0.88348	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	.	.	.	5.39	5.39	0.77823	.	0.056136	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.535	0.67953	0.0:1.0:0.0:0.0	.	.	.	.	X	360;360;301;360;154;328;361;308;360	.	ENSP00000257966:R361X	R	+	1	2	OS9	56397952	0.997000	0.39634	0.996000	0.52242	0.966000	0.64601	3.907000	0.56348	2.804000	0.96469	0.655000	0.94253	CGA		0.383	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812	
AGAP2	116986	broad.mit.edu	37	12	58124308	58124308	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58124308C>A	ENST00000547588.1	-	12	2397	c.2398G>T	c.(2398-2400)Gac>Tac	p.D800Y	AGAP2_ENST00000257897.3_Missense_Mutation_p.D464Y	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	800	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.D464Y(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						AAATTCCGGTCTGGCTTCAGC	0.567																																					p.D464Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390T	12						.						218.0	219.0	219.0					12																	58124308		2203	4300	6503	56410575	SO:0001583	missense	116986	exon12			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2398G>T	12.37:g.58124308C>A	ENSP00000449241:p.Asp800Tyr		56410575	NM_014770	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.08|18.08	3.543814|3.543814	0.65198|0.65198	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T|.	0.36157|.	1.42;1.27|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Pleckstrin homology domain (3);|.	1.838160|.	0.02846|.	N|.	0.128515|.	T|T	0.62011|0.62011	0.2393|0.2393	L|L	0.49778|0.49778	1.585|1.585	0.41984|0.41984	D|D	0.990817|0.990817	P;D;D|.	0.64830|.	0.95;0.994;0.965|.	B;P;P|.	0.58820|.	0.397;0.846;0.805|.	T|T	0.59069|0.59069	-0.7523|-0.7523	10|5	0.87932|.	D|.	0|.	.|.	13.3774|13.3774	0.60747|0.60747	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	464;800;800|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	Y|I	464;800;156|663	ENSP00000257897:D464Y;ENSP00000449241:D800Y|.	ENSP00000257897:D464Y|.	D|R	-|-	1|2	0|0	AGAP2|AGAP2	56410575|56410575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.583000|3.583000	0.53928|0.53928	2.630000|2.630000	0.89119|0.89119	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.567	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
AGAP2	116986	broad.mit.edu	37	12	58127857	58127857	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58127857G>A	ENST00000547588.1	-	5	1500	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	AGAP2_ENST00000257897.3_Missense_Mutation_p.R165C	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	501	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.R165C(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCCTCCCCGCGAAGGGAACTC	0.592																																					p.R165C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	12						.						56.0	45.0	49.0					12																	58127857		2203	4300	6503	56414124	SO:0001583	missense	116986	exon5			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1501C>T	12.37:g.58127857G>A	ENSP00000449241:p.Arg501Cys		56414124	NM_014770	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.996381|3.996381	0.74818|0.74818	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588|ENST00000328568	T;T|.	0.70282|.	-0.47;-0.47|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Mitochondrial Rho-like (1);|.	0.074808|.	0.52532|.	D|.	0.000075|.	D|D	0.82935|0.82935	0.5145|0.5145	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;1.0|.	D|D	0.84786|0.84786	0.0776|0.0776	10|5	0.87932|.	D|.	0|.	.|.	17.1186|17.1186	0.86695|0.86695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165;501;501|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	C|L	165;501|364	ENSP00000257897:R165C;ENSP00000449241:R501C|.	ENSP00000257897:R165C|.	R|S	-|-	1|2	0|0	AGAP2|AGAP2	56414124|56414124	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.588000|0.588000	0.36517|0.36517	5.314000|5.314000	0.65804|0.65804	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	CGC|TCG		0.592	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
MARCH9	92979	broad.mit.edu	37	12	58151918	58151918	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58151918G>A	ENST00000266643.5	+	3	972	c.541G>A	c.(541-543)Gag>Aag	p.E181K	MARCH9_ENST00000548358.1_Missense_Mutation_p.E68K	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	181					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E181K(1)|p.E68K(1)		autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GACGGTCATCGAGAAGGTCCA	0.592																																					p.E181K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G541A	12						.						117.0	96.0	103.0					12																	58151918		2203	4300	6503	56438185	SO:0001583	missense	92979	exon3			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.541G>A	12.37:g.58151918G>A	ENSP00000266643:p.Glu181Lys		56438185	NM_138396	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897452	0.91962	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.58652	0.32;0.32	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.80464	-0.1371	10	0.87932	D	0	.	18.1173	0.89561	0.0:0.0:1.0:0.0	.	68;181	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	K	181;68	ENSP00000266643:E181K;ENSP00000446758:E68K	ENSP00000266643:E181K	E	+	1	0	MARCH9	56438185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.810000	0.96702	0.655000	0.94253	GAG		0.592	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396	
MARCH9	92979	broad.mit.edu	37	12	58152625	58152625	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58152625C>T	ENST00000266643.5	+	4	1417	c.986C>T	c.(985-987)gCc>gTc	p.A329V	MARCH9_ENST00000548358.1_Missense_Mutation_p.A216V	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	329					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A216V(1)|p.A329V(1)		autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCACCAGATGCCCGTTCCAGC	0.602																																					p.A329V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C986T	12						.						28.0	27.0	27.0					12																	58152625		2188	4291	6479	56438892	SO:0001583	missense	92979	exon4			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.986C>T	12.37:g.58152625C>T	ENSP00000266643:p.Ala329Val		56438892	NM_138396	B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	ENST00000266643.5	37	CCDS31847.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455234	0.26161	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.31510	2.5;1.49	5.56	5.56	0.83823	.	0.272699	0.35436	N	0.003201	T	0.19565	0.0470	N	0.08118	0	0.22954	N	0.998519	B;B	0.28178	0.202;0.021	B;B	0.35550	0.205;0.012	T	0.21348	-1.0248	10	0.41790	T	0.15	.	11.7245	0.51702	0.272:0.728:0.0:0.0	.	216;329	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	V	329;216	ENSP00000266643:A329V;ENSP00000446758:A216V	ENSP00000266643:A329V	A	+	2	0	MARCH9	56438892	0.533000	0.26354	1.000000	0.80357	0.975000	0.68041	0.433000	0.21477	2.890000	0.99128	0.655000	0.94253	GCC		0.602	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396	
METTL21B	25895	broad.mit.edu	37	12	58176894	58176894	+	IGR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:58176894C>A	ENST00000300209.8	+	0	2563				TSFM_ENST00000550559.1_Splice_Site_p.A20D|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000548851.1_Splice_Site_p.A20D|TSFM_ENST00000543727.1_Splice_Site_p.A20D|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000454289.3_Splice_Site_p.A20D|TSFM_ENST00000540550.1_Splice_Site_p.A20D|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000323833.8_Splice_Site_p.A20D|RP11-571M6.15_ENST00000471530.1_Splice_Site_p.L35M	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)	p.A20D(1)		endometrium(1)|lung(1)	2						CTCATCTAGGCTGGGTCTCTT	0.587											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A20D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59A	12						.						48.0	50.0	49.0					12																	58176894		2203	4300	6503	56463161	SO:0001628	intergenic_variant	10102	exon2			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176894C>A		1028	56463161	NM_001172695	Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564207	0.65651	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	3.15	0.36227	.	0.610700	0.14848	N	0.294869	T	0.38878	0.1057	L	0.27053	0.805	0.80722	D	1	B;B;B	0.34372	0.451;0.08;0.418	B;B;B	0.36504	0.203;0.027;0.226	T	0.27773	-1.0064	9	0.72032	D	0.01	.	6.5659	0.22511	0.1765:0.7322:0.0:0.0913	.	20;20;20	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	D	20	.	ENSP00000313877:A20D	A	+	2	0	TSFM	56463161	0.313000	0.24554	0.681000	0.30009	0.037000	0.13140	0.216000	0.17585	0.801000	0.34066	0.462000	0.41574	GCT		0.587	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433	
LRIG3	121227	broad.mit.edu	37	12	59268079	59268079	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:59268079T>C	ENST00000320743.3	-	18	3159	c.2873A>G	c.(2872-2874)gAc>gGc	p.D958G	LRIG3_ENST00000379141.4_Missense_Mutation_p.D898G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	958					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D958G(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTCATAGTGGTCCATTAAAAC	0.423			T	ROS1	NSCLC																																p.D958G			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2873G	12						.						113.0	107.0	109.0					12																	59268079		2203	4300	6503	57554346	SO:0001583	missense	121227	exon18			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2873A>G	12.37:g.59268079T>C	ENSP00000326759:p.Asp958Gly		57554346	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375599	0.24857	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.64085	-0.03;-0.08	5.83	5.83	0.93111	.	0.191446	0.25447	N	0.030601	T	0.61489	0.2351	M	0.73962	2.25	0.36112	D	0.844865	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.001	T	0.63892	-0.6534	9	.	.	.	.	12.0356	0.53423	0.0:0.0686:0.0:0.9313	.	898;958	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	G	898;958	ENSP00000368436:D898G;ENSP00000326759:D958G	.	D	-	2	0	LRIG3	57554346	1.000000	0.71417	0.937000	0.37676	0.038000	0.13279	4.248000	0.58760	2.224000	0.72417	0.528000	0.53228	GAC		0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
LRIG3	121227	broad.mit.edu	37	12	59271414	59271414	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:59271414C>A	ENST00000320743.3	-	15	2590	c.2304G>T	c.(2302-2304)gaG>gaT	p.E768D	LRIG3_ENST00000379141.4_Missense_Mutation_p.E708D	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	768	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E768D(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTTAGACATCTCACATGTGT	0.522			T	ROS1	NSCLC																																p.E768D			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2304T	12						.						175.0	157.0	163.0					12																	59271414		2203	4300	6503	57557681	SO:0001583	missense	121227	exon15			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2304G>T	12.37:g.59271414C>A	ENSP00000326759:p.Glu768Asp		57557681	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460864	0.43736	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.67865	-0.29;-0.29	5.59	0.709	0.18150	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	N	0.001902	T	0.74550	0.3731	M	0.70108	2.13	0.51482	D	0.999925	P;D	0.76494	0.863;0.999	P;D	0.80764	0.614;0.994	T	0.69472	-0.5136	9	.	.	.	.	5.8935	0.18927	0.0:0.2045:0.1363:0.6592	.	708;768	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	D	708;768	ENSP00000368436:E708D;ENSP00000326759:E768D	.	E	-	3	2	LRIG3	57557681	0.998000	0.40836	0.890000	0.34922	0.334000	0.28698	0.511000	0.22739	-0.043000	0.13513	0.655000	0.94253	GAG		0.522	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
LRIG3	121227	broad.mit.edu	37	12	59279668	59279668	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:59279668G>A	ENST00000320743.3	-	10	1475	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	LRIG3_ENST00000379141.4_Missense_Mutation_p.R337W	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	397					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R397W(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GAACGGATCCGATTTCCTTGG	0.363			T	ROS1	NSCLC																																p.R397W			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1189T	12						.						145.0	163.0	157.0					12																	59279668		2203	4300	6503	57565935	SO:0001583	missense	121227	exon10			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1189C>T	12.37:g.59279668G>A	ENSP00000326759:p.Arg397Trp		57565935	NM_153377	Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717386	0.30413	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.60548	0.18;0.18	5.93	4.06	0.47325	.	0.000000	0.34178	N	0.004197	T	0.57755	0.2075	M	0.85859	2.78	0.45946	D	0.998771	B;B	0.27264	0.118;0.173	B;B	0.27170	0.033;0.077	T	0.57866	-0.7737	9	.	.	.	.	7.6058	0.28101	0.0776:0.0:0.4676:0.4548	.	337;397	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	W	337;397	ENSP00000368436:R337W;ENSP00000326759:R397W	.	R	-	1	2	LRIG3	57565935	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	1.599000	0.36751	1.458000	0.47871	0.655000	0.94253	CGG		0.363	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
USP15	9958	broad.mit.edu	37	12	62749171	62749171	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:62749171C>T	ENST00000280377.5	+	8	888	c.830C>T	c.(829-831)tCg>tTg	p.S277L	USP15_ENST00000393654.3_Missense_Mutation_p.S252L|USP15_ENST00000353364.3_Missense_Mutation_p.S248L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	277					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S248L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TATGATTATTCGGAACCTGGA	0.358																																					p.S248L	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	12						.						87.0	83.0	84.0					12																	62749171		2203	4300	6503	61035438	SO:0001583	missense	9958	exon7			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.830C>T	12.37:g.62749171C>T	ENSP00000280377:p.Ser277Leu		61035438	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331588	0.60853	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.20738	2.06;2.06;2.05	5.45	4.57	0.56435	.	0.219510	0.40302	N	0.001128	T	0.15219	0.0367	N	0.25647	0.755	0.58432	D	0.999997	B;B	0.22003	0.063;0.058	B;B	0.18263	0.009;0.021	T	0.05451	-1.0884	9	.	.	.	-2.7678	14.0563	0.64772	0.0:0.9274:0.0:0.0726	.	277;248	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	L	248;277;252	ENSP00000258123:S248L;ENSP00000280377:S277L;ENSP00000377264:S252L	.	S	+	2	0	USP15	61035438	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.192000	0.58378	1.315000	0.45114	0.557000	0.71058	TCG		0.358	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
USP15	9958	broad.mit.edu	37	12	62790089	62790089	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:62790089C>T	ENST00000280377.5	+	20	2643	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	USP15_ENST00000393654.3_Missense_Mutation_p.S837L|USP15_ENST00000353364.3_Missense_Mutation_p.S833L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	862	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S833L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTGGATATGTCGGAATTCTTA	0.378																																					p.S833L	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2498T	12						.						130.0	124.0	126.0					12																	62790089		2203	4300	6503	61076356	SO:0001583	missense	9958	exon19			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2585C>T	12.37:g.62790089C>T	ENSP00000280377:p.Ser862Leu		61076356	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459069	0.96240	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654;ENST00000549415	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.201380	0.45126	D	0.000388	T	0.62527	0.2435	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.972	T	0.61267	-0.7097	9	.	.	.	-7.7818	19.6937	0.96012	0.0:1.0:0.0:0.0	.	862;833	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	L	833;862;837;64	ENSP00000258123:S833L;ENSP00000280377:S862L;ENSP00000377264:S837L;ENSP00000448372:S64L	.	S	+	2	0	USP15	61076356	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	6.066000	0.71185	2.720000	0.93068	0.650000	0.86243	TCG		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
MON2	23041	broad.mit.edu	37	12	62972263	62972263	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:62972263G>T	ENST00000393632.2	+	31	4944	c.4553G>T	c.(4552-4554)aGa>aTa	p.R1518I	MON2_ENST00000393630.3_Missense_Mutation_p.R1519I|MON2_ENST00000546600.1_Missense_Mutation_p.R1518I|MON2_ENST00000393629.2_Missense_Mutation_p.R1512I|MON2_ENST00000552738.1_Missense_Mutation_p.R1489I|MON2_ENST00000280379.6_Missense_Mutation_p.R1519I	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1518					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1518I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GAGTTTCAAAGAAATGAAAAT	0.279																																					p.R1518I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4553T	12						.						30.0	30.0	30.0					12																	62972263		2198	4284	6482	61258530	SO:0001583	missense	23041	exon31				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4553G>T	12.37:g.62972263G>T	ENSP00000377252:p.Arg1518Ile		61258530	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865771	0.51588	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.56275	0.47;0.47;0.49;0.49;0.47;0.47	5.66	4.77	0.60923	.	0.097400	0.64402	D	0.000001	T	0.41811	0.1175	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B	0.32573	0.103;0.253;0.253;0.178;0.376	B;B;B;B;B	0.33690	0.035;0.168;0.111;0.049;0.076	T	0.24548	-1.0157	9	.	.	.	-12.146	11.2165	0.48830	0.1588:0.0:0.8412:0.0	.	1512;1489;1518;387;1518	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	I	1518;1519;1519;1518;1489;1512	ENSP00000377252:R1518I;ENSP00000377250:R1519I;ENSP00000280379:R1519I;ENSP00000447407:R1518I;ENSP00000449215:R1489I;ENSP00000377249:R1512I	.	R	+	2	0	MON2	61258530	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.736000	0.62059	1.384000	0.46424	0.650000	0.86243	AGA		0.279	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
MON2	23041	broad.mit.edu	37	12	62974131	62974131	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:62974131G>A	ENST00000393632.2	+	32	5021	c.4630G>A	c.(4630-4632)Gaa>Aaa	p.E1544K	MON2_ENST00000393630.3_Missense_Mutation_p.E1545K|MON2_ENST00000546600.1_Missense_Mutation_p.E1544K|MON2_ENST00000393629.2_Missense_Mutation_p.E1538K|MON2_ENST00000552738.1_Missense_Mutation_p.E1515K|MON2_ENST00000280379.6_Missense_Mutation_p.E1545K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1544					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1544K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TATTCCTAAGGAATTTGTTGG	0.294																																					p.E1544K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4630A	12						.						92.0	92.0	92.0					12																	62974131		2203	4289	6492	61260398	SO:0001583	missense	23041	exon32				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4630G>A	12.37:g.62974131G>A	ENSP00000377252:p.Glu1544Lys		61260398	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668533	0.88348	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	6.07	6.07	0.98685	.	0.160487	0.56097	D	0.000034	T	0.65873	0.2733	L	0.43152	1.355	0.80722	D	1	B;P;B;B;P	0.38129	0.306;0.619;0.433;0.119;0.575	B;B;B;B;B	0.41299	0.11;0.353;0.156;0.073;0.156	T	0.60115	-0.7326	9	.	.	.	-12.4621	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1538;1515;1544;413;1544	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	K	1544;1545;1545;1544;1515;1538	ENSP00000377252:E1544K;ENSP00000377250:E1545K;ENSP00000280379:E1545K;ENSP00000447407:E1544K;ENSP00000449215:E1515K;ENSP00000377249:E1538K	.	E	+	1	0	MON2	61260398	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAA		0.294	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
PPM1H	57460	broad.mit.edu	37	12	63226025	63226025	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:63226025C>A	ENST00000228705.6	-	2	580	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	94							phosphoprotein phosphatase activity (GO:0004721)	p.D94Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTGGCTTGGTCTTCATTGTGT	0.542																																					p.D94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280T	12						.						60.0	59.0	59.0					12																	63226025		1961	4163	6124	61512292	SO:0001583	missense	57460	exon2			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.280G>T	12.37:g.63226025C>A	ENSP00000228705:p.Asp94Tyr		61512292	NM_020700	B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695157	0.88830	.	.	ENSG00000111110	ENST00000228705	T	0.41065	1.01	5.64	5.64	0.86602	Protein phosphatase 2C-like (3);	0.104847	0.64402	D	0.000005	T	0.69450	0.3112	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72141	-0.4380	9	.	.	.	.	17.8834	0.88848	0.0:1.0:0.0:0.0	.	94	Q9ULR3	PPM1H_HUMAN	Y	94	ENSP00000228705:D94Y	.	D	-	1	0	PPM1H	61512292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.167000	0.77562	2.670000	0.90874	0.650000	0.86243	GAC		0.542	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	
AVPR1A	552	broad.mit.edu	37	12	63541422	63541422	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:63541422G>A	ENST00000299178.2	-	2	1079	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	325					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S325L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGGGTTTTCCGATTCTGCATG	0.363																																					p.S325L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C974T	12						.						103.0	101.0	101.0					12																	63541422		2203	4300	6503	61827689	SO:0001583	missense	552	exon2			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.974C>T	12.37:g.63541422G>A	ENSP00000299178:p.Ser325Leu		61827689	NM_000706		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038365	0.75617	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.70631	-0.5;-0.5	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.78976	-0.1991	9	.	.	.	-8.4785	19.0835	0.93192	0.0:0.0:1.0:0.0	.	325	P37288	V1AR_HUMAN	L	106;325	ENSP00000449822:S106L;ENSP00000299178:S325L	.	S	-	2	0	AVPR1A	61827689	1.000000	0.71417	0.837000	0.33122	0.273000	0.26683	7.888000	0.87302	2.767000	0.95098	0.655000	0.94253	TCG		0.363	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
DPY19L2	283417	broad.mit.edu	37	12	63991659	63991659	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:63991659A>G	ENST00000324472.4	-	14	1574	c.1391T>C	c.(1390-1392)aTc>aCc	p.I464T		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	464					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I464T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATACCTTAAGATTCTGGCTGC	0.323																																					p.I464T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1391C	12						.						46.0	52.0	50.0					12																	63991659		2201	4285	6486	62277926	SO:0001583	missense	283417	exon14				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1391T>C	12.37:g.63991659A>G	ENSP00000315988:p.Ile464Thr		62277926	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217477	0.58560	.	.	ENSG00000177990	ENST00000324472	T	0.56941	0.43	3.14	3.14	0.36123	.	0.057547	0.64402	D	0.000001	T	0.49457	0.1558	L	0.60455	1.87	0.80722	D	1	P	0.37731	0.607	B	0.42692	0.395	T	0.45512	-0.9256	9	.	.	.	.	7.9714	0.30130	1.0:0.0:0.0:0.0	.	464	Q6NUT2	D19L2_HUMAN	T	464	ENSP00000315988:I464T	.	I	-	2	0	DPY19L2	62277926	1.000000	0.71417	0.905000	0.35620	0.979000	0.70002	5.266000	0.65525	1.427000	0.47276	0.473000	0.43528	ATC		0.323	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
SRGAP1	57522	broad.mit.edu	37	12	64377749	64377749	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:64377749A>G	ENST00000355086.3	+	2	614	c.90A>G	c.(88-90)gaA>gaG	p.E30E	SRGAP1_ENST00000357825.3_Silent_p.E30E|SRGAP1_ENST00000543397.1_5'UTR	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	30	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.E30E(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AACTGGTAGAACAACAAAAAT	0.403																																					p.E30E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A90G	12						.						75.0	80.0	79.0					12																	64377749		2203	4300	6503	62664016	SO:0001819	synonymous_variant	57522	exon2			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.90A>G	12.37:g.64377749A>G			62664016	NM_020762	Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																				0.403	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
SRGAP1	57522	broad.mit.edu	37	12	64458903	64458903	+	Silent	SNP	C	C	T	rs200749162		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:64458903C>T	ENST00000355086.3	+	8	1553	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	SRGAP1_ENST00000357825.3_Silent_p.C343C|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Silent_p.C303C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	343	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.C343C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAGGTGTGCCAGGTCAGTG	0.517																																					p.C343C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029T	12						.						91.0	67.0	75.0					12																	64458903		2203	4300	6503	62745170	SO:0001819	synonymous_variant	57522	exon8			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1029C>T	12.37:g.64458903C>T			62745170	NM_020762	Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	CCDS8967.1																																																																																				0.517	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
SRGAP1	57522	broad.mit.edu	37	12	64488754	64488754	+	Missense_Mutation	SNP	C	C	T	rs377564318		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:64488754C>T	ENST00000355086.3	+	13	2106	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R505W|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R465W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	528	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R528W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGCTGTATTCGGTTCATCAA	0.383																																					p.R528W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1582T	12						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	141.0	138.0	139.0		1582	2.9	1.0	12		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRGAP1	NM_020762.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	528/1086	64488754	2,13004	2203	4300	6503	62775021	SO:0001583	missense	57522	exon13			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1582C>T	12.37:g.64488754C>T	ENSP00000347198:p.Arg528Trp		62775021	NM_020762	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.625959	0.66901	2.27E-4	1.16E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19669	2.13;2.13;2.13	5.05	2.88	0.33553	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31335	U	0.007833	T	0.56572	0.1994	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.70988	-0.4722	9	.	.	.	.	12.9014	0.58126	0.4416:0.5584:0.0:0.0	.	528;465	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	W	528;505;465	ENSP00000347198:R528W;ENSP00000350480:R505W;ENSP00000437948:R465W	.	R	+	1	2	SRGAP1	62775021	1.000000	0.71417	0.990000	0.47175	0.955000	0.61496	2.625000	0.46452	1.231000	0.43661	0.460000	0.39030	CGG		0.383	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
C12orf56	115749	broad.mit.edu	37	12	64746797	64746797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:64746797C>A	ENST00000543942.2	-	2	918	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	C12orf56_ENST00000333722.5_Nonsense_Mutation_p.E98*|RPS11P6_ENST00000535684.1_RNA|snoU13_ENST00000459220.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	98								p.E98*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCTGATTTCTCTATCTGGC	0.333																																					p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	12						.						116.0	109.0	111.0					12																	64746797		1824	4076	5900	63033064	SO:0001587	stop_gained	115749	exon2				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.292G>T	12.37:g.64746797C>A	ENSP00000446101:p.Glu98*		63033064	NM_001170633		Nonsense_Mutation	SNP	ENST00000543942.2	37		.	.	.	.	.	.	.	.	.	.	c	19.18	3.777400	0.70107	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	3.73	3.73	0.42828	.	0.295721	0.25089	N	0.033239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.9387	11.3191	0.49410	0.0:1.0:0.0:0.0	.	.	.	.	X	98;98;98;85	.	.	E	-	1	0	C12orf56	63033064	1.000000	0.71417	0.999000	0.59377	0.085000	0.17905	2.862000	0.48388	2.382000	0.81193	0.651000	0.88453	GAA		0.333	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676	
TBK1	29110	broad.mit.edu	37	12	64878130	64878130	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:64878130C>A	ENST00000331710.5	+	9	1379	c.1040C>A	c.(1039-1041)tCt>tAt	p.S347Y		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	347	Ubiquitin-like.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S347Y(2)		breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AAAATTATTTCTTCAAATCAA	0.368																																					p.S347Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1040A	12						.						52.0	52.0	52.0					12																	64878130		2203	4300	6503	63164397	SO:0001583	missense	29110	exon9			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1040C>A	12.37:g.64878130C>A	ENSP00000329967:p.Ser347Tyr		63164397	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737255	0.49045	.	.	ENSG00000183735	ENST00000331710	T	0.67523	-0.27	5.0	5.0	0.66597	.	0.165439	0.53938	D	0.000042	T	0.58235	0.2108	L	0.40543	1.245	0.46336	D	0.998993	P	0.36438	0.553	B	0.32465	0.146	T	0.56920	-0.7899	9	.	.	.	-10.5686	19.186	0.93644	0.0:1.0:0.0:0.0	.	347	Q9UHD2	TBK1_HUMAN	Y	347	ENSP00000329967:S347Y	.	S	+	2	0	TBK1	63164397	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.713000	0.54882	2.706000	0.92434	0.563000	0.77884	TCT		0.368	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
GNS	2799	broad.mit.edu	37	12	65110564	65110564	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:65110564C>T	ENST00000258145.3	-	14	1786	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	GNS_ENST00000418919.2_Missense_Mutation_p.R483H|GNS_ENST00000543646.1_Missense_Mutation_p.R571H|GNS_ENST00000542058.1_Missense_Mutation_p.R519H	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	539					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.R539H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		GACACTGCCGCGATTGCTGAA	0.468																																					p.R539H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616A	12						.						95.0	83.0	87.0					12																	65110564		2203	4300	6503	63396831	SO:0001583	missense	2799	exon14				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1616G>A	12.37:g.65110564C>T	ENSP00000258145:p.Arg539His		63396831	NM_002076	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.856433	0.00558	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.31	4.18	0.49190	.	0.899364	0.09943	N	0.735687	T	0.30759	0.0775	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18808	-1.0325	9	.	.	.	-6.1081	9.3492	0.38126	0.0:0.0831:0.0:0.9169	.	519;571;539;483	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	H	483;539;571;519;456	ENSP00000413130:R483H;ENSP00000258145:R539H;ENSP00000438497:R571H;ENSP00000444819:R519H	.	R	-	2	0	GNS	63396831	0.819000	0.29175	0.069000	0.20011	0.018000	0.09664	1.147000	0.31602	0.969000	0.38237	-0.378000	0.06908	CGC		0.468	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
GNS	2799	broad.mit.edu	37	12	65116805	65116805	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:65116805G>A	ENST00000258145.3	-	11	1459	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	GNS_ENST00000418919.2_Missense_Mutation_p.S374F|GNS_ENST00000543646.1_Missense_Mutation_p.S462F|GNS_ENST00000542058.1_Missense_Mutation_p.S410F	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	430					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.S430F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		AGGACTCAGGGAAGGGCATGT	0.483																																					p.S430F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289T	12						.						229.0	182.0	198.0					12																	65116805		2203	4300	6503	63403072	SO:0001583	missense	2799	exon11				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1289C>T	12.37:g.65116805G>A	ENSP00000258145:p.Ser430Phe		63403072	NM_002076	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495073	0.26774	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.06	4.18	0.49190	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.605492	0.18615	N	0.136055	T	0.51075	0.1653	L	0.39898	1.24	0.25713	N	0.985465	P;P;B;B	0.40050	0.469;0.7;0.195;0.111	B;B;B;B	0.38194	0.232;0.267;0.222;0.057	T	0.40608	-0.9554	9	.	.	.	-7.6206	10.448	0.44505	0.0764:0.1436:0.7799:0.0	.	410;462;430;374	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	F	374;430;462;410;347	ENSP00000413130:S374F;ENSP00000258145:S430F;ENSP00000438497:S462F;ENSP00000444819:S410F	.	S	-	2	0	GNS	63403072	0.870000	0.30015	0.585000	0.28666	0.611000	0.37282	3.686000	0.54685	1.294000	0.44707	-0.339000	0.08088	TCC		0.483	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
GNS	2799	broad.mit.edu	37	12	65134422	65134422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:65134422G>T	ENST00000258145.3	-	7	1009	c.839C>A	c.(838-840)tCt>tAt	p.S280Y	GNS_ENST00000418919.2_Missense_Mutation_p.S224Y|GNS_ENST00000543646.1_Missense_Mutation_p.S312Y|GNS_ENST00000542058.1_Missense_Mutation_p.S260Y	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	280					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.S280Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTGTATTGAAGAATTAGTCAT	0.353																																					p.S280Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839A	12						.						128.0	125.0	126.0					12																	65134422		2203	4299	6502	63420689	SO:0001583	missense	2799	exon7				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.839C>A	12.37:g.65134422G>T	ENSP00000258145:p.Ser280Tyr		63420689	NM_002076	B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.217716|3.217716	0.58560|0.58560	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000540196|ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	.|D;D;D;D;D	.|0.99891	.|-4.66;-5.06;-4.7;-4.75;-7.56	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	.|0.099172	.|0.64402	.|D	.|0.000001	D|D	0.99846|0.99846	0.9929|0.9929	M|M	0.72894|0.72894	2.215|2.215	0.58432|0.58432	D|D	0.999999|0.999999	.|B;D;B;P	.|0.69078	.|0.24;0.997;0.142;0.454	.|B;D;B;B	.|0.63597	.|0.166;0.916;0.14;0.176	D|D	0.97232|0.97232	0.9885|0.9885	5|9	.|.	.|.	.|.	-23.2391|-23.2391	19.7308|19.7308	0.96181|0.96181	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|260;312;280;224	.|B4DYH8;F6S8M0;P15586;Q7Z3X3	.|.;.;GNS_HUMAN;.	L|Y	99|224;280;312;260;197;217;204	.|ENSP00000413130:S224Y;ENSP00000258145:S280Y;ENSP00000438497:S312Y;ENSP00000444819:S260Y;ENSP00000445055:S204Y	.|.	F|S	-|-	3|2	2|0	GNS|GNS	63420689|63420689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.476000|6.476000	0.73587|0.73587	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.353	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2		
LEMD3	23592	broad.mit.edu	37	12	65564368	65564368	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:65564368G>T	ENST00000308330.2	+	1	1018	c.992G>T	c.(991-993)aGc>aTc	p.S331I	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	331					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.S331I(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAGACAGGAGCCGAAACCTC	0.622																																					p.S331I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G992T	12						.						24.0	29.0	27.0					12																	65564368		2203	4299	6502	63850635	SO:0001583	missense	23592	exon1			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.992G>T	12.37:g.65564368G>T	ENSP00000308369:p.Ser331Ile		63850635	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556073	0.65425	.	.	ENSG00000174106	ENST00000308330	T	0.50548	0.74	3.26	3.26	0.37387	.	0.443226	0.20432	N	0.092457	T	0.48642	0.1511	N	0.19112	0.55	0.36519	D	0.870059	D	0.61697	0.99	D	0.66497	0.944	T	0.52426	-0.8577	9	.	.	.	-11.2019	12.3297	0.55033	0.0:0.0:1.0:0.0	.	331	Q9Y2U8	MAN1_HUMAN	I	331	ENSP00000308369:S331I	.	S	+	2	0	LEMD3	63850635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.735000	0.47377	2.127000	0.65507	0.462000	0.41574	AGC		0.622	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
IRAK3	11213	broad.mit.edu	37	12	66597574	66597574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:66597574C>T	ENST00000261233.4	+	2	638	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.L73F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAGAGAATTACTTTGGTCCTG	0.423																																					p.L73F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C217T	12						.						105.0	99.0	101.0					12																	66597574		2203	4300	6503	64883841	SO:0001583	missense	11213	exon2			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.217C>T	12.37:g.66597574C>T	ENSP00000261233:p.Leu73Phe		64883841	NM_007199		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198170	0.79015	.	.	ENSG00000090376	ENST00000261233	D	0.97041	-4.22	5.81	5.81	0.92471	Death (3);DEATH-like (2);	0.084638	0.48286	D	0.000188	D	0.98160	0.9392	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98085	1.0406	9	.	.	.	-18.8496	15.575	0.76368	0.0:1.0:0.0:0.0	.	73	Q9Y616	IRAK3_HUMAN	F	73	ENSP00000261233:L73F	.	L	+	1	0	IRAK3	64883841	0.961000	0.32948	0.823000	0.32752	0.854000	0.48673	2.872000	0.48467	2.759000	0.94783	0.591000	0.81541	CTT		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
IRAK3	11213	broad.mit.edu	37	12	66622063	66622063	+	Missense_Mutation	SNP	G	G	A	rs371798024		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:66622063G>A	ENST00000261233.4	+	8	1221	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R206Q	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.R267Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGGCACATTCGAATCGGTATA	0.413																																					p.R206Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G617A	12						.						201.0	182.0	189.0					12																	66622063		2203	4300	6503	64908330	SO:0001583	missense	11213	exon7			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.800G>A	12.37:g.66622063G>A	ENSP00000261233:p.Arg267Gln		64908330	NM_001142523		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630710	0.67015	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.65364	-0.15;-0.15	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.87378	0.6162	H	0.98426	4.23	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91551	0.5257	9	.	.	.	-9.8002	15.7406	0.77891	0.0:0.0:1.0:0.0	.	206;267	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Q	267;206	ENSP00000261233:R267Q;ENSP00000409852:R206Q	.	R	+	2	0	IRAK3	64908330	0.998000	0.40836	1.000000	0.80357	0.024000	0.10985	3.811000	0.55620	2.797000	0.96272	0.561000	0.74099	CGA		0.413	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
HELB	92797	broad.mit.edu	37	12	66703893	66703893	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:66703893G>T	ENST00000247815.4	+	4	1244	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	395					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.E395D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CAAAACCTGAGAATTCAAGCG	0.418																																					p.E395D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1185T	12						.						181.0	172.0	175.0					12																	66703893		2203	4300	6503	64990160	SO:0001583	missense	92797	exon4			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1185G>T	12.37:g.66703893G>T	ENSP00000247815:p.Glu395Asp		64990160	NM_033647	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486100	0.26686	.	.	ENSG00000127311	ENST00000247815	T	0.12361	2.69	6.17	4.34	0.51931	.	0.804346	0.11782	N	0.530090	T	0.15478	0.0373	L	0.54323	1.7	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.19386	-1.0307	9	.	.	.	-4.0563	11.2266	0.48888	0.0:0.124:0.6184:0.2576	.	395	Q8NG08	HELB_HUMAN	D	395	ENSP00000247815:E395D	.	E	+	3	2	HELB	64990160	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.085000	0.14912	0.916000	0.36871	0.655000	0.94253	GAG		0.418	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1		
GRIP1	23426	broad.mit.edu	37	12	66935705	66935705	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:66935705G>A	ENST00000398016.3	-	3	230	c.162C>T	c.(160-162)gtC>gtT	p.V54V	GRIP1_ENST00000286445.7_Silent_p.V54V|GRIP1_ENST00000359742.4_Silent_p.V54V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.V54V(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATCAGCTCGACGACTGTGG	0.458																																					p.V54V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	12						.						222.0	215.0	217.0					12																	66935705		1904	4116	6020	65221972	SO:0001819	synonymous_variant	23426	exon3			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.162C>T	12.37:g.66935705G>A			65221972	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1																																																																																				0.458	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CAND1	55832	broad.mit.edu	37	12	67691631	67691631	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:67691631A>G	ENST00000545606.1	+	6	1289	c.852A>G	c.(850-852)agA>agG	p.R284R		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	284					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.R284R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATTTGTAAGAAGGTAAGTTT	0.323																																					p.R284R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A852G	12						.						67.0	72.0	70.0					12																	67691631		2201	4296	6497	65977898	SO:0001819	synonymous_variant	55832	exon6				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.852A>G	12.37:g.67691631A>G			65977898	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	CCDS8977.1																																																																																				0.323	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
CAND1	55832	broad.mit.edu	37	12	67699030	67699030	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:67699030G>A	ENST00000545606.1	+	10	2019	c.1582G>A	c.(1582-1584)Gtt>Att	p.V528I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	528					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.V528I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGTGGCTTGTGTTGGAGACCC	0.433																																					p.V528I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	12						.						196.0	172.0	180.0					12																	67699030		2203	4300	6503	65985297	SO:0001583	missense	55832	exon10				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1582G>A	12.37:g.67699030G>A	ENSP00000442318:p.Val528Ile		65985297	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360606	0.41801	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.64085	-0.08	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	L	0.43152	1.355	0.80722	D	1	B	0.20988	0.05	B	0.21708	0.036	T	0.50955	-0.8766	9	.	.	.	-23.0958	19.5723	0.95425	0.0:0.0:1.0:0.0	.	528	Q86VP6	CAND1_HUMAN	I	528;528;370	ENSP00000442318:V528I	.	V	+	1	0	CAND1	65985297	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.899000	0.87370	2.695000	0.91970	0.557000	0.71058	GTT		0.433	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
NUP107	57122	broad.mit.edu	37	12	69103821	69103821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:69103821G>T	ENST00000229179.4	+	10	1170	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	NUP107_ENST00000539906.1_Nonsense_Mutation_p.E251*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E129*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	280					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.E280*(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCCAAAGATGAAATTGGAGA	0.279																																					p.E280X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G838T	12						.						83.0	88.0	86.0					12																	69103821		2203	4299	6502	67390088	SO:0001587	stop_gained	57122	exon10			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.838G>T	12.37:g.69103821G>T	ENSP00000229179:p.Glu280*		67390088	NM_020401	B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	39	7.744869	0.98465	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.22	5.22	0.72569	.	0.211270	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.5863	18.7588	0.91842	0.0:0.0:1.0:0.0	.	.	.	.	X	280;129;251	.	.	E	+	1	0	NUP107	67390088	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.834000	0.75339	2.601000	0.87937	0.557000	0.71058	GAA		0.279	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
YEATS4	8089	broad.mit.edu	37	12	69759619	69759619	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:69759619C>T	ENST00000247843.2	+	4	558	c.288C>T	c.(286-288)ttC>ttT	p.F96F	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	96	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)	p.F96F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGGGTGAATTCGAAATAATCA	0.284																																					p.F96F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288T	12						.						72.0	76.0	74.0					12																	69759619		2203	4292	6495	68045886	SO:0001819	synonymous_variant	8089	exon4			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.288C>T	12.37:g.69759619C>T			68045886	NM_006530	Q9NQD0	Silent	SNP	ENST00000247843.2	37	CCDS8990.1																																																																																				0.284	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530	
FRS2	10818	broad.mit.edu	37	12	69965161	69965161	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:69965161G>T	ENST00000550389.1	+	5	605	c.359G>T	c.(358-360)aGa>aTa	p.R120I	FRS2_ENST00000299293.2_Missense_Mutation_p.R120I|FRS2_ENST00000397997.2_Missense_Mutation_p.R120I|FRS2_ENST00000549921.1_Missense_Mutation_p.R120I	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	120					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R120I(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTTGTAGAAAGAAATAATCAT	0.368											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R120I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G359T	12						.						101.0	93.0	96.0					12																	69965161		1863	4096	5959	68251428	SO:0001583	missense	10818	exon8			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.359G>T	12.37:g.69965161G>T	ENSP00000447241:p.Arg120Ile	1118	68251428	NM_001042555	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275874	0.80580	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997;ENST00000551325	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.71	5.71	0.89125	.	0.249234	0.37955	N	0.001874	D	0.88592	0.6478	L	0.47190	1.495	0.80722	D	1	D	0.54397	0.966	D	0.68943	0.961	D	0.86384	0.1731	9	.	.	.	-12.7779	19.9325	0.97124	0.0:0.0:1.0:0.0	.	120	Q8WU20	FRS2_HUMAN	I	120	ENSP00000299293:R120I;ENSP00000450048:R120I;ENSP00000447241:R120I;ENSP00000381083:R120I;ENSP00000449432:R120I	.	R	+	2	0	FRS2	68251428	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.546000	0.90661	2.720000	0.93068	0.650000	0.86243	AGA		0.368	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
FRS2	10818	broad.mit.edu	37	12	69968178	69968178	+	Missense_Mutation	SNP	C	C	T	rs550828203		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:69968178C>T	ENST00000550389.1	+	7	1216	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	FRS2_ENST00000299293.2_Missense_Mutation_p.R324C|FRS2_ENST00000397997.2_Missense_Mutation_p.R324C|FRS2_ENST00000549921.1_Missense_Mutation_p.R324C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	324					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R324C(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGGAGAGGTCGTCTGACATC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21130	0.001		0.0	False		,,,				2504	0.0				p.R324C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C970T	12						.						74.0	74.0	74.0					12																	69968178		1937	4132	6069	68254445	SO:0001583	missense	10818	exon10			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.970C>T	12.37:g.69968178C>T	ENSP00000447241:p.Arg324Cys		68254445	NM_001042555	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397125	0.62177	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	6.04	6.04	0.98038	.	0.130904	0.53938	D	0.000052	T	0.32734	0.0839	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.48677	0.586	T	0.00426	-1.1746	9	.	.	.	-10.0024	20.6396	0.99537	0.0:1.0:0.0:0.0	.	324	Q8WU20	FRS2_HUMAN	C	324	ENSP00000299293:R324C;ENSP00000450048:R324C;ENSP00000447241:R324C;ENSP00000381083:R324C	.	R	+	1	0	FRS2	68254445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.961000	0.56759	2.881000	0.98747	0.650000	0.86243	CGT		0.433	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654	
CCT2	10576	broad.mit.edu	37	12	69991759	69991759	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:69991759A>C	ENST00000299300.6	+	13	1431	c.1243A>C	c.(1243-1245)Atg>Ctg	p.M415L	CCT2_ENST00000544368.2_Missense_Mutation_p.M415L|CCT2_ENST00000543146.2_Missense_Mutation_p.M368L	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	415					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.M415L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTGTTCTGAGATGTTGATGGC	0.373																																					p.M368L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1102C	12						.						45.0	40.0	42.0					12																	69991759		2203	4300	6503	68278026	SO:0001583	missense	10576	exon13			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1243A>C	12.37:g.69991759A>C	ENSP00000299300:p.Met415Leu		68278026	NM_001198842	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762368	0.69763	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.75367	-0.93;-0.93;-0.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	L	0.48642	1.525	0.58432	D	0.999999	B;B	0.27700	0.186;0.132	B;B	0.30401	0.07;0.115	T	0.64984	-0.6278	9	.	.	.	-32.8856	15.0521	0.71881	1.0:0.0:0.0:0.0	.	415;415	F5GWF6;P78371	.;TCPB_HUMAN	L	415;415;368	ENSP00000299300:M415L;ENSP00000441847:M415L;ENSP00000445471:M368L	.	M	+	1	0	CCT2	68278026	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.685000	0.91246	2.371000	0.80710	0.533000	0.62120	ATG		0.373	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431	
RAB3IP	117177	broad.mit.edu	37	12	70209221	70209221	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:70209221C>A	ENST00000247833.7	+	11	1754	c.1378C>A	c.(1378-1380)Ctc>Atc	p.L460I	RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000325555.9_Missense_Mutation_p.L254I|RAB3IP_ENST00000550536.1_Missense_Mutation_p.L476I|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.L254I|RAB3IP_ENST00000551641.1_Missense_Mutation_p.L254I|RAB3IP_ENST00000550847.1_Missense_Mutation_p.L167I|RAB3IP_ENST00000362025.5_3'UTR					RAB3A interacting protein									p.L476I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAAAGAGGAACTCTGATGCTC	0.398																																					p.L254I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C760A	12						.						174.0	163.0	167.0					12																	70209221		2203	4300	6503	68495488	SO:0001583	missense	117177	exon9				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1378C>A	12.37:g.70209221C>A	ENSP00000247833:p.Leu460Ile		68495488	NM_001024647		Missense_Mutation	SNP	ENST00000247833.7	37	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041529	0.75732	.	.	ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T	0.57436	0.44;0.73;0.4;0.73;0.73;0.67	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.68481	-0.5397	10	0.66056	D	0.02	.	20.1882	0.98224	0.0:1.0:0.0:0.0	.	476	Q96QF0	RAB3I_HUMAN	I	460;254;476;254;254;167	ENSP00000247833:L460I;ENSP00000323349:L254I;ENSP00000447300:L476I;ENSP00000448773:L254I;ENSP00000448027:L254I;ENSP00000448102:L167I	ENSP00000247833:L460I	L	+	1	0	RAB3IP	68495488	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.252000	0.58785	2.783000	0.95769	0.591000	0.81541	CTC		0.398	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456	
KCNMB4	27345	broad.mit.edu	37	12	70824427	70824427	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:70824427C>A	ENST00000258111.4	+	3	1086	c.627C>A	c.(625-627)ttC>ttA	p.F209L		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	209					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.F209L(2)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	AGCGCAAGTTCTCTTAAAGGG	0.557																																					p.F209L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C627A	12						.						66.0	58.0	61.0					12																	70824427		2203	4300	6503	69110694	SO:0001583	missense	27345	exon3			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.627C>A	12.37:g.70824427C>A	ENSP00000258111:p.Phe209Leu		69110694	NM_014505	Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096601	0.56075	.	.	ENSG00000135643	ENST00000258111	T	0.11169	2.8	6.06	6.06	0.98353	.	0.347490	0.30528	N	0.009429	T	0.05640	0.0148	N	0.08118	0	0.41397	D	0.987653	B	0.17038	0.02	B	0.17433	0.018	T	0.44267	-0.9339	10	0.11794	T	0.64	-28.0105	11.7861	0.52043	0.0:0.8653:0.0:0.1347	.	209	Q86W47	KCMB4_HUMAN	L	209	ENSP00000258111:F209L	ENSP00000258111:F209L	F	+	3	2	KCNMB4	69110694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.250000	0.32850	2.882000	0.98803	0.655000	0.94253	TTC		0.557	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505	
PTPRB	5787	broad.mit.edu	37	12	70929847	70929847	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:70929847A>C	ENST00000261266.5	-	27	5414	c.5385T>G	c.(5383-5385)gtT>gtG	p.V1795V	RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Silent_p.V1705V|PTPRB_ENST00000451516.2_Silent_p.V1705V|PTPRB_ENST00000334414.6_Silent_p.V2013V|PTPRB_ENST00000550358.1_Silent_p.V1925V|PTPRB_ENST00000550857.1_Silent_p.V1705V|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1795	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V2013V(1)|p.V1795V(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGATGTTGTGAACGTTTTGTT	0.488																																					p.V2013V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T6039G	12						.						141.0	136.0	138.0					12																	70929847		1982	4170	6152	69216114	SO:0001819	synonymous_variant	5787	exon29			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5385T>G	12.37:g.70929847A>C			69216114	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.488	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRB	5787	broad.mit.edu	37	12	70986105	70986105	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:70986105G>T	ENST00000261266.5	-	5	1112	c.1083C>A	c.(1081-1083)gtC>gtA	p.V361V	PTPRB_ENST00000551525.1_Silent_p.V578V|PTPRB_ENST00000538708.1_Silent_p.V361V|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Silent_p.V361V|PTPRB_ENST00000334414.6_Silent_p.V579V|PTPRB_ENST00000550358.1_Silent_p.V579V|PTPRB_ENST00000550857.1_Silent_p.V361V	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	361	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V361V(1)|p.V579V(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTTCACCAGAGACACAGCTGA	0.468																																					p.V579V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1737A	12						.						101.0	99.0	99.0					12																	70986105		1973	4152	6125	69272372	SO:0001819	synonymous_variant	5787	exon7			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1083C>A	12.37:g.70986105G>T			69272372	NM_001109754	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	CCDS44944.1																																																																																				0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRR	5801	broad.mit.edu	37	12	71050494	71050494	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:71050494G>A	ENST00000283228.2	-	13	2322	c.1870C>T	c.(1870-1872)Cgt>Tgt	p.R624C	PTPRR_ENST00000378778.1_Missense_Mutation_p.R418C|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.R379C|PTPRR_ENST00000342084.4_Missense_Mutation_p.R512C|PTPRR_ENST00000549308.1_Missense_Mutation_p.R379C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	624	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R624C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTATCCATACGAAGCTGGCAG	0.458																																					p.R379C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1135T	12						.						199.0	153.0	168.0					12																	71050494		2203	4300	6503	69336761	SO:0001583	missense	5801	exon9			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1870C>T	12.37:g.71050494G>A	ENSP00000283228:p.Arg624Cys		69336761	NM_130846	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074974	0.76415	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.52532	D	0.000073	D	0.97005	0.9022	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.97988	1.0353	10	0.87932	D	0	-12.1384	14.2232	0.65841	0.0:0.0:0.8507:0.1493	.	512;418;624	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	C	379;624;418;512;379	ENSP00000391750:R379C;ENSP00000283228:R624C;ENSP00000368054:R418C;ENSP00000339605:R512C;ENSP00000446943:R379C	ENSP00000283228:R624C	R	-	1	0	PTPRR	69336761	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	9.099000	0.94207	2.573000	0.86826	0.655000	0.94253	CGT		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
PTPRR	5801	broad.mit.edu	37	12	71056292	71056292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:71056292G>A	ENST00000283228.2	-	11	2043	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*	PTPRR_ENST00000378778.1_Nonsense_Mutation_p.R325*|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.R286*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.R419*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.R286*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	531	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R531*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACAAGGTTTCGAATGGTGTAG	0.353																																					p.R286X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C856T	12						.						115.0	101.0	106.0					12																	71056292		2203	4299	6502	69342559	SO:0001587	stop_gained	5801	exon7			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1591C>T	12.37:g.71056292G>A	ENSP00000283228:p.Arg531*		69342559	NM_130846	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	39	7.291274	0.98189	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	.	.	.	5.87	2.91	0.33838	.	0.000000	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4113	15.15	0.72689	0.0:0.0:0.6304:0.3696	.	.	.	.	X	286;531;325;419;286	.	ENSP00000283228:R531X	R	-	1	2	PTPRR	69342559	1.000000	0.71417	0.684000	0.30055	0.981000	0.71138	4.091000	0.57700	0.407000	0.25591	-0.182000	0.12963	CGA		0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
PTPRR	5801	broad.mit.edu	37	12	71077918	71077918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:71077918C>A	ENST00000283228.2	-	10	1938	c.1486G>T	c.(1486-1488)Gaa>Taa	p.E496*	PTPRR_ENST00000378778.1_Nonsense_Mutation_p.E290*|PTPRR_ENST00000440835.2_Nonsense_Mutation_p.E251*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.E384*|PTPRR_ENST00000549308.1_Nonsense_Mutation_p.E251*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	496	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E496*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCATTTTTTTCTTTGAGTTTT	0.398																																					p.E251X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G751T	12						.						92.0	79.0	84.0					12																	71077918		2203	4300	6503	69364185	SO:0001587	stop_gained	5801	exon6			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1486G>T	12.37:g.71077918C>A	ENSP00000283228:p.Glu496*		69364185	NM_130846	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	39	7.802260	0.98498	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	.	.	.	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2902	19.7442	0.96245	0.0:1.0:0.0:0.0	.	.	.	.	X	251;496;290;384;251	.	ENSP00000283228:E496X	E	-	1	0	PTPRR	69364185	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.770000	0.95276	0.655000	0.94253	GAA		0.398	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
PTPRR	5801	broad.mit.edu	37	12	71092068	71092068	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:71092068T>G	ENST00000283228.2	-	8	1708	c.1256A>C	c.(1255-1257)aAt>aCt	p.N419T	PTPRR_ENST00000378778.1_Missense_Mutation_p.N213T|PTPRR_ENST00000440835.2_Missense_Mutation_p.N174T|PTPRR_ENST00000342084.4_Missense_Mutation_p.N307T|PTPRR_ENST00000549308.1_Missense_Mutation_p.N174T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	419	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N419T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTATAGCGATTTTTAGTTCC	0.343																																					p.N174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521C	12						.						84.0	85.0	84.0					12																	71092068		2202	4300	6502	69378335	SO:0001583	missense	5801	exon4			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1256A>C	12.37:g.71092068T>G	ENSP00000283228:p.Asn419Thr		69378335	NM_130846	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420442	0.83559	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.104826	0.41001	D	0.000971	D	0.82866	0.5130	H	0.99379	4.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.998;0.999	D	0.90578	0.4527	10	0.87932	D	0	-16.0463	16.1323	0.81449	0.0:0.0:0.0:1.0	.	268;307;213;419	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	T	174;419;213;307;174;174	ENSP00000391750:N174T;ENSP00000283228:N419T;ENSP00000368054:N213T;ENSP00000339605:N307T;ENSP00000446943:N174T;ENSP00000449616:N174T	ENSP00000283228:N419T	N	-	2	0	PTPRR	69378335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.940000	0.75917	2.223000	0.72356	0.454000	0.30748	AAT		0.343	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
TSPAN8	7103	broad.mit.edu	37	12	71533570	71533570	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:71533570G>A	ENST00000393330.2	-	7	734	c.182C>T	c.(181-183)gCt>gTt	p.A61V	TSPAN8_ENST00000247829.3_Missense_Mutation_p.A61V|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A61V|TSPAN8_ENST00000552128.1_5'Flank|TSPAN8_ENST00000552786.1_5'Flank			P19075	TSN8_HUMAN	tetraspanin 8	61					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A61V(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GGCACCTACAGCAATCAATAT	0.418																																					p.A61V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C182T	12						.						151.0	145.0	147.0					12																	71533570		2203	4300	6503	69819837	SO:0001583	missense	7103	exon4			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.182C>T	12.37:g.71533570G>A	ENSP00000377003:p.Ala61Val		69819837	NM_004616	B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995259	0.54147	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561	T;T;T	0.78364	-1.17;-1.17;-1.17	5.18	3.25	0.37280	.	0.228623	0.44483	D	0.000460	T	0.79441	0.4446	L	0.48218	1.51	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.73972	-0.3814	10	0.09084	T	0.74	.	9.6025	0.39612	0.1816:0.0:0.8184:0.0	.	61	P19075	TSN8_HUMAN	V	61	ENSP00000377003:A61V;ENSP00000247829:A61V;ENSP00000447160:A61V	ENSP00000247829:A61V	A	-	2	0	TSPAN8	69819837	0.911000	0.30947	0.958000	0.39756	0.088000	0.18126	3.698000	0.54771	0.605000	0.29947	0.655000	0.94253	GCT		0.418	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616	
ZFC3H1	196441	broad.mit.edu	37	12	72013718	72013718	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72013718G>T	ENST00000378743.3	-	26	5395	c.5037C>A	c.(5035-5037)ttC>ttA	p.F1679L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1679					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1679L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTAAGATGAAGAATTTGCACA	0.348																																					p.F1679L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5037A	12						.						60.0	55.0	57.0					12																	72013718		1827	4078	5905	70299985	SO:0001583	missense	196441	exon26			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5037C>A	12.37:g.72013718G>T	ENSP00000368017:p.Phe1679Leu		70299985	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570094	0.45798	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.67	1.78	0.24846	Tetratricopeptide-like helical (1);	0.182763	0.48286	N	0.000181	T	0.15739	0.0379	L	0.29908	0.895	0.80722	D	1	B	0.31077	0.307	B	0.27380	0.079	T	0.11743	-1.0575	10	0.08599	T	0.76	.	6.8661	0.24094	0.2811:0.1275:0.5913:0.0	.	1679	O60293	ZC3H1_HUMAN	L	1679	ENSP00000368017:F1679L	ENSP00000368017:F1679L	F	-	3	2	ZFC3H1	70299985	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	1.373000	0.34272	0.045000	0.15804	0.650000	0.86243	TTC		0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZFC3H1	196441	broad.mit.edu	37	12	72013875	72013875	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72013875G>T	ENST00000378743.3	-	26	5238	c.4880C>A	c.(4879-4881)tCt>tAt	p.S1627Y		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1627					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1627Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCCAATAAAGATTTACAAAG	0.363																																					p.S1627Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4880A	12						.						63.0	57.0	59.0					12																	72013875		1847	4099	5946	70300142	SO:0001583	missense	196441	exon26			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4880C>A	12.37:g.72013875G>T	ENSP00000368017:p.Ser1627Tyr		70300142	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337491	0.24253	.	.	ENSG00000133858	ENST00000378743	T	0.35048	1.33	5.56	-4.67	0.03319	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.537042	0.20991	N	0.082030	T	0.24967	0.0606	L	0.27053	0.805	0.09310	N	1	P	0.52842	0.956	P	0.48030	0.564	T	0.30880	-0.9963	10	0.56958	D	0.05	.	9.0566	0.36410	0.0:0.2011:0.2818:0.5171	.	1627	O60293	ZC3H1_HUMAN	Y	1627	ENSP00000368017:S1627Y	ENSP00000368017:S1627Y	S	-	2	0	ZFC3H1	70300142	0.012000	0.17670	0.014000	0.15608	0.736000	0.42039	0.555000	0.23422	-0.776000	0.04578	-0.830000	0.03078	TCT		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZFC3H1	196441	broad.mit.edu	37	12	72027185	72027185	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72027185C>A	ENST00000378743.3	-	13	2902	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	848					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.K848N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCACTAAATTCTTTAAAACAG	0.303																																					p.K848N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2544T	12						.						42.0	38.0	39.0					12																	72027185		1791	4058	5849	70313452	SO:0001583	missense	196441	exon13			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2544G>T	12.37:g.72027185C>A	ENSP00000368017:p.Lys848Asn		70313452	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213825	0.39102	.	.	ENSG00000133858	ENST00000378743	T	0.37752	1.18	5.04	2.05	0.26809	.	0.207171	0.40818	N	0.001017	T	0.27205	0.0667	N	0.19112	0.55	0.80722	D	1	P	0.51791	0.948	P	0.49528	0.614	T	0.01961	-1.1239	10	0.32370	T	0.25	.	8.0166	0.30385	0.0:0.4869:0.0:0.5131	.	848	O60293	ZC3H1_HUMAN	N	848	ENSP00000368017:K848N	ENSP00000368017:K848N	K	-	3	2	ZFC3H1	70313452	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	0.612000	0.24283	0.099000	0.17552	0.460000	0.39030	AAG		0.303	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
ZFC3H1	196441	broad.mit.edu	37	12	72028527	72028527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72028527C>A	ENST00000378743.3	-	11	2675	c.2317G>T	c.(2317-2319)Gaa>Taa	p.E773*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	773					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E773*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCTTCTTTTCTTCAGGCAAA	0.313																																					p.E773X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2317T	12						.						81.0	74.0	76.0					12																	72028527		1799	4060	5859	70314794	SO:0001587	stop_gained	196441	exon11			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2317G>T	12.37:g.72028527C>A	ENSP00000368017:p.Glu773*		70314794	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	42	9.608956	0.99219	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.55	5.55	0.83447	.	0.129578	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.5027	0.95103	0.0:1.0:0.0:0.0	.	.	.	.	X	773	.	ENSP00000368017:E773X	E	-	1	0	ZFC3H1	70314794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	2.610000	0.88304	0.655000	0.94253	GAA		0.313	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
THAP2	83591	broad.mit.edu	37	12	72068116	72068116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72068116C>T	ENST00000308086.2	+	2	1706	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RP11-293I14.2_ENST00000548802.1_Nonsense_Mutation_p.R45*	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	69						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R69*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						AGGACAAACTCGACGACTTAA	0.378																																					p.R69X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C205T	12						.						124.0	122.0	122.0					12																	72068116		2203	4300	6503	70354383	SO:0001587	stop_gained	83591	exon2			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.205C>T	12.37:g.72068116C>T	ENSP00000310796:p.Arg69*		70354383	NM_031435	B2R8P3	Nonsense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	49	15.776912	0.99845	.	.	ENSG00000173451	ENST00000308086	.	.	.	6.08	1.43	0.22495	.	0.203595	0.31519	N	0.007503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4775	0.11750	0.5421:0.2695:0.1088:0.0796	.	.	.	.	X	69	.	ENSP00000310796:R69X	R	+	1	2	THAP2	70354383	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.435000	0.21510	0.307000	0.22880	0.655000	0.94253	CGA		0.378	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435	
THAP2	83591	broad.mit.edu	37	12	72070853	72070853	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72070853C>A	ENST00000308086.2	+	3	2153	c.652C>A	c.(652-654)Cta>Ata	p.L218I	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	218						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L218I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACTGCTAAGTCTAAATCTAAA	0.353																																					p.L218I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652A	12						.						59.0	59.0	59.0					12																	72070853		2203	4298	6501	70357120	SO:0001583	missense	83591	exon3			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.652C>A	12.37:g.72070853C>A	ENSP00000310796:p.Leu218Ile		70357120	NM_031435	B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585589	0.28268	.	.	ENSG00000173451	ENST00000308086	D	0.96232	-3.95	5.8	3.0	0.34707	.	0.524779	0.14718	N	0.302481	D	0.87865	0.6285	N	0.08118	0	0.80722	D	1	B	0.30793	0.295	B	0.32211	0.142	T	0.78580	-0.2149	10	0.25106	T	0.35	.	1.9381	0.03341	0.1423:0.4953:0.1376:0.2248	.	218	Q9H0W7	THAP2_HUMAN	I	218	ENSP00000310796:L218I	ENSP00000310796:L218I	L	+	1	2	THAP2	70357120	0.994000	0.37717	0.932000	0.37286	0.678000	0.39670	0.427000	0.21379	0.371000	0.24564	-0.261000	0.10672	CTA		0.353	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435	
TBC1D15	64786	broad.mit.edu	37	12	72290536	72290536	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72290536G>T	ENST00000550746.1	+	10	1179	c.1115G>T	c.(1114-1116)aGa>aTa	p.R372I	TBC1D15_ENST00000485960.2_Missense_Mutation_p.R355I|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R363I|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R126I	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	372	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R372I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGAGGAAAGAACCCAATTA	0.363																																					p.R363I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088T	12						.						88.0	90.0	89.0					12																	72290536		2203	4300	6503	70576803	SO:0001583	missense	64786	exon10			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1115G>T	12.37:g.72290536G>T	ENSP00000448182:p.Arg372Ile		70576803	NM_001146214	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543368	0.86022	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55	5.87	4.05	0.47172	Rab-GAP/TBC domain (4);	0.046933	0.85682	D	0.000000	T	0.24509	0.0594	M	0.91818	3.245	0.80722	D	1	D;D;D	0.60160	0.987;0.971;0.971	D;P;P	0.64506	0.926;0.879;0.9	T	0.08973	-1.0696	10	0.87932	D	0	-19.3556	12.0146	0.53307	0.1384:0.0:0.8616:0.0	.	363;355;372	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	I	372;256;363;355;126	ENSP00000448182:R372I;ENSP00000418091:R256I;ENSP00000318262:R363I;ENSP00000420678:R355I;ENSP00000376986:R126I	ENSP00000318262:R363I	R	+	2	0	TBC1D15	70576803	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.903000	0.87398	1.492000	0.48499	0.650000	0.86243	AGA		0.363	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
TBC1D15	64786	broad.mit.edu	37	12	72315181	72315181	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72315181G>A	ENST00000550746.1	+	17	1865	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	TBC1D15_ENST00000485960.2_Missense_Mutation_p.E584K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.E592K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.E355K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	601					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.E601K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTGATGTGGAAGATATACT	0.299																																					p.E592K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1774A	12						.						109.0	118.0	115.0					12																	72315181		2203	4300	6503	70601448	SO:0001583	missense	64786	exon17			AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1801G>A	12.37:g.72315181G>A	ENSP00000448182:p.Glu601Lys		70601448	NM_001146214	B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700326	0.68501	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.29	5.29	0.74685	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.46157	1.445	0.58432	D	0.999996	D;D;P	0.56746	0.962;0.977;0.877	P;P;B	0.51487	0.448;0.671;0.265	T	0.01036	-1.1473	10	0.37606	T	0.19	-21.8889	12.6268	0.56634	0.0762:0.0:0.9238:0.0	.	592;584;601	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	601;592;584;355	ENSP00000448182:E601K;ENSP00000318262:E592K;ENSP00000420678:E584K;ENSP00000376986:E355K	ENSP00000318262:E592K	E	+	1	0	TBC1D15	70601448	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.645000	0.83430	2.646000	0.89796	0.591000	0.81541	GAA		0.299	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771	
TPH2	121278	broad.mit.edu	37	12	72332842	72332842	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72332842G>A	ENST00000333850.3	+	1	217	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	26					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.E26K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCAGTGCCCGAAGAGCATCA	0.468											OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E26K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	12						.						120.0	104.0	110.0					12																	72332842		2203	4300	6503	70619109	SO:0001583	missense	121278	exon1			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.76G>A	12.37:g.72332842G>A	ENSP00000329093:p.Glu26Lys	1136	70619109	NM_173353	A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672513	0.47781	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99466	-5.95	5.6	5.6	0.85130	.	0.246896	0.37761	N	0.001957	D	0.97554	0.9199	L	0.27053	0.805	0.35742	D	0.818787	B	0.09022	0.002	B	0.04013	0.001	D	0.98223	1.0479	10	0.30078	T	0.28	-16.665	14.2983	0.66329	0.0:0.148:0.852:0.0	.	26	Q8IWU9	TPH2_HUMAN	K	26	ENSP00000329093:E26K	ENSP00000266669:E26K	E	+	1	0	TPH2	70619109	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	4.961000	0.63681	2.649000	0.89929	0.650000	0.86243	GAA		0.468	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
TPH2	121278	broad.mit.edu	37	12	72425140	72425140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72425140G>T	ENST00000333850.3	+	10	1408	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	423					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.E423*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTTTGTTTCAGAAAGTTTTGA	0.383																																					p.E423X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1267T	12						.						101.0	107.0	105.0					12																	72425140		2203	4300	6503	70711407	SO:0001587	stop_gained	121278	exon10			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1267G>T	12.37:g.72425140G>T	ENSP00000329093:p.Glu423*		70711407	NM_173353	A6NGA4|Q14CB0	Nonsense_Mutation	SNP	ENST00000333850.3	37	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	39	7.658789	0.98415	.	.	ENSG00000139287	ENST00000333850	.	.	.	5.43	5.43	0.79202	.	0.112865	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.2914	19.589	0.95499	0.0:0.0:1.0:0.0	.	.	.	.	X	423	.	ENSP00000329093:E423X	E	+	1	0	TPH2	70711407	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.813000	0.99286	2.709000	0.92574	0.491000	0.48974	GAA		0.383	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353	
TRHDE	29953	broad.mit.edu	37	12	72667273	72667273	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72667273G>A	ENST00000261180.4	+	1	811	c.715G>A	c.(715-717)Gcg>Acg	p.A239T	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	239					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A239T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TATCTACAACGCGCTCATCGA	0.572																																					p.A239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	12						.						55.0	56.0	56.0					12																	72667273		2202	4300	6502	70953540	SO:0001583	missense	29953	exon1			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.715G>A	12.37:g.72667273G>A	ENSP00000261180:p.Ala239Thr		70953540	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.032915|4.032915	0.75504|0.75504	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.02974|.	4.09|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73690|0.73690	0.3619|0.3619	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.65573|.	0.936|.	T|T	0.73322|0.73322	-0.4019|-0.4019	10|5	0.72032|.	D|.	0.01|.	.|.	17.2833|17.2833	0.87134|0.87134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	239|.	Q9UKU6|.	TRHDE_HUMAN|.	T|H	239|4	ENSP00000261180:A239T|.	ENSP00000261180:A239T|.	A|R	+|+	1|2	0|0	TRHDE|TRHDE	70953540|70953540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	9.104000|9.104000	0.94239|0.94239	2.358000|2.358000	0.79984|0.79984	0.514000|0.514000	0.50259|0.50259	GCG|CGC		0.572	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
TRHDE	29953	broad.mit.edu	37	12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413																																					p.T318M												.	.	3	Substitution - Missense(3)	large_intestine(1)|lung(1)|endometrium(1)	c.C953T	12						.						157.0	147.0	151.0					12																	72680634		2203	4300	6503	70966901	SO:0001583	missense	29953	exon2			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.953C>T	12.37:g.72680634C>T	ENSP00000261180:p.Thr318Met		70966901	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753464	0.69648	.	.	ENSG00000072657	ENST00000261180	T	0.05025	3.51	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.49256	1.55	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.00002	-1.2612	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	318	Q9UKU6	TRHDE_HUMAN	M	318	ENSP00000261180:T318M	ENSP00000261180:T318M	T	+	2	0	TRHDE	70966901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	ACG		0.413	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
TRHDE	29953	broad.mit.edu	37	12	72771779	72771779	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:72771779G>A	ENST00000261180.4	+	3	1154	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R353Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						aattaGGTACGATTATATGCA	0.313																																					p.R353Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	12						.						33.0	35.0	34.0					12																	72771779		2203	4293	6496	71058046	SO:0001583	missense	29953	exon3			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1058G>A	12.37:g.72771779G>A	ENSP00000261180:p.Arg353Gln		71058046	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636728	0.87760	.	.	ENSG00000072657	ENST00000261180	T	0.03152	4.03	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.00146	-1.1992	10	0.39692	T	0.17	.	19.5437	0.95283	0.0:0.0:1.0:0.0	.	353	Q9UKU6	TRHDE_HUMAN	Q	353	ENSP00000261180:R353Q	ENSP00000261180:R353Q	R	+	2	0	TRHDE	71058046	1.000000	0.71417	0.983000	0.44433	0.988000	0.76386	9.235000	0.95353	2.645000	0.89757	0.585000	0.79938	CGA		0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A	rs200951837		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					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.R376*(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)	GTACTAGCTCGAAGAGTATGT	0.453																																					p.R376X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1126T	12						.						53.0	50.0	51.0					12																	75444659		2203	4300	6503	73730926	SO:0001587	stop_gained	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.1126C>T	12.37:g.75444659G>A	ENSP00000449253:p.Arg376*		73730926	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonsense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	42	9.583643	0.99211	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	.	.	.	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8785	0.86058	0.0:0.0:0.8713:0.1287	.	.	.	.	X	376	.	ENSP00000298972:R376X	R	-	1	2	KCNC2	73730926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.969000	0.56816	2.880000	0.98712	0.650000	0.86243	CGA		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
KCNC2	3747	broad.mit.edu	37	12	75444845	75444845	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:75444845G>T	ENST00000549446.1	-	3	1620	c.940C>A	c.(940-942)Ctc>Atc	p.L314I	KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000341669.3_Missense_Mutation_p.L314I|KCNC2_ENST00000393288.2_Missense_Mutation_p.L314I|KCNC2_ENST00000548513.1_Missense_Mutation_p.L314I|KCNC2_ENST00000550433.1_Missense_Mutation_p.L314I|KCNC2_ENST00000298972.1_Missense_Mutation_p.L314I|KCNC2_ENST00000540018.1_Missense_Mutation_p.L314I|KCNC2_ENST00000350228.2_Missense_Mutation_p.L314I	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	314					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.L314I(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)	ATATTCAAGAGATTTTTGATG	0.403																																					p.L314I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C940A	12						.						95.0	91.0	92.0					12																	75444845		2203	4300	6503	73731112	SO:0001583	missense	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.940C>A	12.37:g.75444845G>T	ENSP00000449253:p.Leu314Ile		73731112	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198039	0.22037	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	5.76	5.76	0.90799	Ion transport (1);	0.000000	0.64402	D	0.000017	D	0.94411	0.8202	N	0.11284	0.12	0.41275	D	0.986874	B;B;B;B;B	0.32051	0.185;0.354;0.015;0.185;0.006	B;B;B;B;B	0.31547	0.086;0.132;0.017;0.086;0.01	D	0.93096	0.6504	10	0.17369	T	0.5	.	19.5587	0.95364	0.0:0.0:1.0:0.0	.	314;314;314;314;314	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	I	314	ENSP00000448301:L314I;ENSP00000449941:L314I;ENSP00000449253:L314I;ENSP00000340121:L314I;ENSP00000298972:L314I;ENSP00000319877:L314I;ENSP00000438423:L314I;ENSP00000376966:L314I	ENSP00000298972:L314I	L	-	1	0	KCNC2	73731112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.532000	0.45659	2.718000	0.92993	0.650000	0.86243	CTC		0.403	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
KCNC2	3747	broad.mit.edu	37	12	75601256	75601256	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:75601256C>T	ENST00000549446.1	-	2	1188	c.508G>A	c.(508-510)Gag>Aag	p.E170K	KCNC2_ENST00000341669.3_Missense_Mutation_p.E170K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E170K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E170K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E170K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E170K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E170K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E170K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	170					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.E170K(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)	TCGGGGGTCTCGAAGATGTCC	0.726																																					p.E170K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G508A	12						.						24.0	27.0	26.0					12																	75601256		2203	4299	6502	73887523	SO:0001583	missense	3747	exon2			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.508G>A	12.37:g.75601256C>T	ENSP00000449253:p.Glu170Lys		73887523	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693895	0.68386	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	D;D;D;D;D;D;D;D	0.97553	-4.42;-4.42;-4.42;-4.42;-4.42;-4.4;-4.39;-4.43	3.69	3.69	0.42338	.	0.000000	0.47093	D	0.000254	D	0.93906	0.8050	L	0.46670	1.46	0.80722	D	1	B;B;B;B;P	0.37997	0.347;0.347;0.259;0.157;0.614	B;B;B;B;B	0.26770	0.054;0.054;0.049;0.031;0.073	D	0.94776	0.7949	10	0.72032	D	0.01	.	15.9794	0.80094	0.0:1.0:0.0:0.0	.	170;170;170;170;170	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	K	170	ENSP00000448301:E170K;ENSP00000449941:E170K;ENSP00000449253:E170K;ENSP00000340121:E170K;ENSP00000298972:E170K;ENSP00000319877:E170K;ENSP00000438423:E170K;ENSP00000376966:E170K	ENSP00000298972:E170K	E	-	1	0	KCNC2	73887523	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.513000	0.60476	2.047000	0.60756	0.563000	0.77884	GAG		0.726	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
KRR1	11103	broad.mit.edu	37	12	75897824	75897824	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:75897824C>A	ENST00000229214.4	-	7	714	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	231					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D231Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AATTCAGAATCTTTTGCCAAC	0.323																																					p.D231Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691T	12						.						121.0	114.0	116.0					12																	75897824		2203	4300	6503	74184091	SO:0001583	missense	11103	exon7			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.691G>T	12.37:g.75897824C>A	ENSP00000229214:p.Asp231Tyr		74184091	NM_007043	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856356	0.91355	.	.	ENSG00000111615	ENST00000229214	T	0.31510	1.49	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74965	-0.3484	10	0.87932	D	0	-14.7821	20.1951	0.98241	0.0:1.0:0.0:0.0	.	231	Q13601	KRR1_HUMAN	Y	231	ENSP00000229214:D231Y	ENSP00000229214:D231Y	D	-	1	0	KRR1	74184091	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.395000	0.66291	2.780000	0.95670	0.585000	0.79938	GAT		0.323	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043	
PHLDA1	22822	broad.mit.edu	37	12	76424734	76424734	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:76424734T>C	ENST00000266671.5	-	1	2978	c.788A>G	c.(787-789)gAc>gGc	p.D263G	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.D122G|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	263	PH.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)		p.D263G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				GCACCGAAAGTCGATCTCCTT	0.567																																					p.D263G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A788G	12						.						102.0	77.0	85.0					12																	76424734		2203	4300	6503	74711001	SO:0001583	missense	22822	exon1			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.788A>G	12.37:g.76424734T>C	ENSP00000266671:p.Asp263Gly		74711001	NM_007350	A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	T	33	5.224522	0.95139	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.78126	-1.15	4.97	4.97	0.65823	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87685	0.2550	10	0.87932	D	0	-24.549	14.8172	0.70045	0.0:0.0:0.0:1.0	.	263	Q8WV24	PHLA1_HUMAN	G	263;122	ENSP00000266671:D263G	ENSP00000266671:D263G	D	-	2	0	PHLDA1	74711001	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.631000	0.83237	2.087000	0.62958	0.459000	0.35465	GAC		0.567	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350	
E2F7	144455	broad.mit.edu	37	12	77427749	77427749	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:77427749G>T	ENST00000322886.7	-	8	1432	c.1197C>A	c.(1195-1197)gtC>gtA	p.V399V	E2F7_ENST00000416496.2_Silent_p.V399V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	399					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V399V(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GTTTTGCACAGACTTGAATCT	0.443																																					p.V399V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1197A	12						.						108.0	98.0	101.0					12																	77427749		2203	4300	6503	75951880	SO:0001819	synonymous_variant	144455	exon8			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1197C>A	12.37:g.77427749G>T			75951880	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	CCDS9016.1																																																																																				0.443	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
E2F7	144455	broad.mit.edu	37	12	77439840	77439840	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:77439840G>T	ENST00000322886.7	-	5	1042	c.807C>A	c.(805-807)ttC>ttA	p.F269L	E2F7_ENST00000416496.2_Missense_Mutation_p.F269L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	269					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F269L(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGGGTTCAGAGAAATCCAGTA	0.433																																					p.F269L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C807A	12						.						129.0	122.0	124.0					12																	77439840		2203	4300	6503	75963971	SO:0001583	missense	144455	exon5			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.807C>A	12.37:g.77439840G>T	ENSP00000323246:p.Phe269Leu		75963971	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.102|6.102	0.387127|0.387127	0.11581|0.11581	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	T;T;T|.	0.15952|.	2.65;2.38;2.39|.	6.04|6.04	3.22|3.22	0.36961|0.36961	.|.	0.302784|.	0.38272|.	N|.	0.001743|.	T|T	0.46927|0.46927	0.1418|0.1418	L|L	0.48877|0.48877	1.53|1.53	0.34661|0.34661	D|D	0.722701|0.722701	B;P|.	0.34864|.	0.347;0.473|.	B;B|.	0.35353|.	0.069;0.201|.	T|T	0.54186|0.54186	-0.8331|-0.8331	10|5	0.22706|.	T|.	0.39|.	-20.0438|-20.0438	4.0837|4.0837	0.09937|0.09937	0.3288:0.1682:0.503:0.0|0.3288:0.1682:0.503:0.0	.|.	269;269|.	F8VSE7;Q96AV8|.	.;E2F7_HUMAN|.	L|Y	269|147	ENSP00000323246:F269L;ENSP00000393639:F269L;ENSP00000448245:F269L|.	ENSP00000323246:F269L|.	F|S	-|-	3|2	2|0	E2F7|E2F7	75963971|75963971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	1.877000|1.877000	0.39598|0.39598	0.873000|0.873000	0.35799|0.35799	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.433	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
NAV3	89795	broad.mit.edu	37	12	78400518	78400518	+	Silent	SNP	G	G	A	rs202050601		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78400518G>A	ENST00000397909.2	+	8	1373	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	NAV3_ENST00000228327.6_Silent_p.P400P|NAV3_ENST00000266692.7_Silent_p.P400P|NAV3_ENST00000536525.2_Silent_p.P400P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	400						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P400P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACGCCCCCCGCAGCCTCCCA	0.502										HNSCC(70;0.22)																											p.P400P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1200A	12						.						93.0	94.0	93.0					12																	78400518		1968	4151	6119	76924649	SO:0001819	synonymous_variant	89795	exon8			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1200G>A	12.37:g.78400518G>A			76924649	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	0.032	-1.326686	0.01309	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57625	-0.7779	4	.	.	.	-7.5483	5.7999	0.18408	0.127:0.1988:0.4878:0.1863	.	.	.	.	T	224	.	.	A	+	1	0	NAV3	76924649	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-3.348000	0.00503	-4.130000	0.00071	-1.642000	0.00770	GCA		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78400774	78400774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78400774G>T	ENST00000397909.2	+	8	1629	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.E486*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E486*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E486*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	486						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E486*(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCAGTCAAAGAAGAGAAGGA	0.398										HNSCC(70;0.22)																											p.E486X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1456T	12						.						74.0	72.0	73.0					12																	78400774		1860	4099	5959	76924905	SO:0001587	stop_gained	89795	exon8			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1456G>T	12.37:g.78400774G>T	ENSP00000381007:p.Glu486*		76924905	NM_014903	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	36	5.723323	0.96847	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.	.	.	5.73	5.73	0.89815	.	0.172417	0.25555	U	0.029863	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.7061	19.9161	0.97063	0.0:0.0:1.0:0.0	.	.	.	.	X	486	.	ENSP00000228327:E486X	E	+	1	0	NAV3	76924905	1.000000	0.71417	0.998000	0.56505	0.057000	0.15508	7.827000	0.86722	2.710000	0.92621	0.650000	0.86243	GAA		0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78511824	78511824	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78511824G>T	ENST00000397909.2	+	14	2960	c.2787G>T	c.(2785-2787)gaG>gaT	p.E929D	NAV3_ENST00000228327.6_Missense_Mutation_p.E929D|NAV3_ENST00000266692.7_Missense_Mutation_p.E929D|NAV3_ENST00000536525.2_Missense_Mutation_p.E929D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	929						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E929D(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGATTCAGAGAAACGCTCCA	0.383										HNSCC(70;0.22)																											p.E929D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2787T	12						.						114.0	118.0	117.0					12																	78511824		1864	4110	5974	77035955	SO:0001583	missense	89795	exon14			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2787G>T	12.37:g.78511824G>T	ENSP00000381007:p.Glu929Asp		77035955	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.03|17.03	3.283327|3.283327	0.59867|0.59867	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.35048|.	1.33;1.33;1.33;1.33|.	6.04|6.04	3.26|3.26	0.37387|0.37387	.|.	0.000000|0.000000	0.40385|0.40385	U|U	0.001109|0.001109	T|.	0.61375|.	0.2342|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;P;D|.	0.67145|.	0.761;0.85;0.996|.	B;B;D|.	0.76071|.	0.277;0.374;0.987|.	T|.	0.56214|.	-0.8016|.	10|.	0.56958|.	D|.	0.05|.	-23.164|-23.164	9.2273|9.2273	0.37414|0.37414	0.2713:0.0:0.7287:0.0|0.2713:0.0:0.7287:0.0	.|.	929;929;929|.	E7EUC6;Q8IVL0;Q8IVL0-2|.	.;NAV3_HUMAN;.|.	D|X	929|1	ENSP00000446132:E929D;ENSP00000381007:E929D;ENSP00000228327:E929D;ENSP00000266692:E929D|.	ENSP00000228327:E929D|.	E|E	+|+	3|1	2|0	NAV3|NAV3	77035955|77035955	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.457000|0.457000	0.32468|0.32468	2.898000|2.898000	0.48672|0.48672	0.451000|0.451000	0.26802|0.26802	0.563000|0.563000	0.77884|0.77884	GAG|GAA		0.383	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78562590	78562590	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78562590C>T	ENST00000397909.2	+	24	5098	c.4925C>T	c.(4924-4926)tCt>tTt	p.S1642F	NAV3_ENST00000228327.6_Missense_Mutation_p.S1642F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1465F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1642F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1642						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S1642F(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTCAGAATTCTGCTGCCCAG	0.403										HNSCC(70;0.22)																											p.S1642F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4925T	12						.						80.0	81.0	81.0					12																	78562590		1818	4077	5895	77086721	SO:0001583	missense	89795	exon24			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4925C>T	12.37:g.78562590C>T	ENSP00000381007:p.Ser1642Phe		77086721	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	21.2	4.110816	0.77210	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	5.41	5.41	0.78517	.	0.000000	0.40064	U	0.001192	D	0.93184	0.7829	L	0.46157	1.445	0.80722	D	1	P;P;B;P	0.48503	0.556;0.681;0.384;0.911	B;B;B;P	0.47981	0.211;0.372;0.081;0.563	D	0.93629	0.6954	10	0.66056	D	0.02	-13.6274	19.559	0.95364	0.0:1.0:0.0:0.0	.	1642;1465;1642;1642	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1642;1642;1642;1465;263;271	ENSP00000446132:S1642F;ENSP00000381007:S1642F;ENSP00000228327:S1642F;ENSP00000266692:S1465F;ENSP00000448303:S271F	ENSP00000228327:S1642F	S	+	2	0	NAV3	77086721	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.050000	0.71063	2.706000	0.92434	0.650000	0.86243	TCT		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78573312	78573312	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78573312C>T	ENST00000397909.2	+	29	5540	c.5367C>T	c.(5365-5367)atC>atT	p.I1789I	NAV3_ENST00000228327.6_Silent_p.I1767I|NAV3_ENST00000266692.7_Silent_p.I1590I|NAV3_ENST00000536525.2_Silent_p.I1767I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1789						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.I1767I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTCAGGATCTGTGAATGCA	0.463										HNSCC(70;0.22)																											p.I1767I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5301T	12						.						56.0	57.0	57.0					12																	78573312		1859	4107	5966	77097443	SO:0001819	synonymous_variant	89795	exon28			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5367C>T	12.37:g.78573312C>T			77097443	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37																																																																																					0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78582427	78582427	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78582427T>C	ENST00000397909.2	+	33	6098	c.5925T>C	c.(5923-5925)ggT>ggC	p.G1975G	NAV3_ENST00000228327.6_Silent_p.G1953G|NAV3_ENST00000266692.7_Silent_p.G1776G|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000536525.2_Silent_p.G1953G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1975						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G1953G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGCCTTGGTCTGAGCTCTG	0.393										HNSCC(70;0.22)																											p.G1953G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5859C	12						.						127.0	121.0	123.0					12																	78582427		1909	4136	6045	77106558	SO:0001819	synonymous_variant	89795	exon32			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5925T>C	12.37:g.78582427T>C			77106558	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	T	10.03	1.239274	0.22711	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	3.52	0.40303	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45440	-0.9261	4	.	.	.	-9.8262	4.5841	0.12273	0.1405:0.1547:0.0:0.7048	.	.	.	.	P	848	.	.	S	+	1	0	NAV3	77106558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.691000	0.25467	0.457000	0.26962	0.533000	0.62120	TCT		0.393	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78591108	78591108	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78591108C>A	ENST00000397909.2	+	35	6546	c.6373C>A	c.(6373-6375)Ctt>Att	p.L2125I	NAV3_ENST00000228327.6_Missense_Mutation_p.L2103I|NAV3_ENST00000266692.7_Missense_Mutation_p.L1926I|NAV3_ENST00000536525.2_Missense_Mutation_p.L2103I|NAV3_ENST00000541270.1_5'Flank			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2125						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L2103I(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTAATAATTCTTGATAATCT	0.333										HNSCC(70;0.22)																											p.L2103I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6307A	12						.						127.0	115.0	119.0					12																	78591108		1836	4082	5918	77115239	SO:0001583	missense	89795	exon34			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6373C>A	12.37:g.78591108C>A	ENSP00000381007:p.Leu2125Ile		77115239	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.316216|4.316216	0.81469|0.81469	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	D;D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4;-2.4|.	5.35|5.35	5.35|5.35	0.76521|0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.35378|.	U|.	0.003241|.	T|T	0.57577|0.57577	0.2063|0.2063	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.999;0.986;0.999;0.996|.	T|T	0.51482|0.51482	-0.8700|-0.8700	10|5	0.48119|.	T|.	0.1|.	-12.6085|-12.6085	19.4322|19.4322	0.94775|0.94775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2103;1926;2125;2103|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	I|Y	2103;2125;2103;1926;717;725|997	ENSP00000446132:L2103I;ENSP00000381007:L2125I;ENSP00000228327:L2103I;ENSP00000266692:L1926I;ENSP00000448303:L725I|.	ENSP00000228327:L2103I|.	L|S	+|+	1|2	0|0	NAV3|NAV3	77115239|77115239	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.965000|0.965000	0.64279|0.64279	6.013000|6.013000	0.70776|0.70776	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.333	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78592401	78592401	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78592401A>T	ENST00000397909.2	+	36	6636	c.6463A>T	c.(6463-6465)Aca>Tca	p.T2155S	NAV3_ENST00000228327.6_Missense_Mutation_p.T2133S|NAV3_ENST00000266692.7_Missense_Mutation_p.T1956S|NAV3_ENST00000536525.2_Missense_Mutation_p.T2133S|NAV3_ENST00000541270.1_5'Flank			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2155						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T2133S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATTATTGGAACAATGAATCA	0.269										HNSCC(70;0.22)																											p.T2133S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6397T	12						.						77.0	73.0	74.0					12																	78592401		1791	4064	5855	77116532	SO:0001583	missense	89795	exon35			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6463A>T	12.37:g.78592401A>T	ENSP00000381007:p.Thr2155Ser		77116532	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.4|27.4	4.832241|4.832241	0.91036|0.91036	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.92805	.|-3.11;-3.11;-3.11;-3.11;-3.11	6.16|6.16	6.16|6.16	0.99307|0.99307	.|ATPase, AAA+ type, core (1);	.|0.389468	.|0.18389	.|U	.|0.142707	D|D	0.96247|0.96247	0.8776|0.8776	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.996;1.0;0.998	.|D;D;D;D	.|0.87578	.|0.998;0.98;0.998;0.994	D|D	0.96361|0.96361	0.9266|0.9266	5|10	.|0.87932	.|D	.|0	-19.2583|-19.2583	16.4795|16.4795	0.84153|0.84153	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2133;1956;2155;2133	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	I|S	1027|2133;2155;2133;1956;747;755	.|ENSP00000446132:T2133S;ENSP00000381007:T2155S;ENSP00000228327:T2133S;ENSP00000266692:T1956S;ENSP00000448303:T755S	.|ENSP00000228327:T2133S	N|T	+|+	2|1	0|0	NAV3|NAV3	77116532|77116532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.108000|9.108000	0.94275|0.94275	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.269	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78598832	78598832	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:78598832G>T	ENST00000397909.2	+	39	7125	c.6952G>T	c.(6952-6954)Gat>Tat	p.D2318Y	NAV3_ENST00000228327.6_Missense_Mutation_p.D2296Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2119Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2296Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D148Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2318						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D2296Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGACCAGAAGATGTTGGGTA	0.502										HNSCC(70;0.22)																											p.D2296Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6886T	12						.						79.0	83.0	81.0					12																	78598832		2060	4195	6255	77122963	SO:0001583	missense	89795	exon38			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6952G>T	12.37:g.78598832G>T	ENSP00000381007:p.Asp2318Tyr		77122963	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214654|3.214654	0.58452|0.58452	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.57436|.	1.16;1.14;1.16;1.15;0.4|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.41396|.	U|.	0.000894|.	D|D	0.83727|0.83727	0.5317|0.5317	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;0.999;0.999|.	D|D	0.85547|0.85547	0.1219|0.1219	10|5	0.87932|.	D|.	0|.	-19.6489|-19.6489	19.1641|19.1641	0.93546|0.93546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2296;2119;2318;2296|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	Y|I	2296;2318;2296;2119;148|1190;185	ENSP00000446132:D2296Y;ENSP00000381007:D2318Y;ENSP00000228327:D2296Y;ENSP00000266692:D2119Y;ENSP00000444918:D148Y|.	ENSP00000228327:D2296Y|.	D|R	+|+	1|2	0|0	NAV3|NAV3	77122963|77122963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.009000|0.009000	0.06853|0.06853	9.869000|9.869000	0.99810|0.99810	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.502	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PAWR	5074	broad.mit.edu	37	12	79990394	79990394	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:79990394C>T	ENST00000328827.4	-	5	1100	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	243					actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)	p.R243Q(1)		NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCTATCTGTTCGAGAATATCT	0.363																																					p.R243Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	12						.						102.0	98.0	100.0					12																	79990394		2203	4300	6503	78514525	SO:0001583	missense	5074	exon5			U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.728G>A	12.37:g.79990394C>T	ENSP00000328088:p.Arg243Gln		78514525	NM_002583	O75796|Q6FHY9|Q8N700	Missense_Mutation	SNP	ENST00000328827.4	37	CCDS31863.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774007	0.69992	.	.	ENSG00000177425	ENST00000328827	T	0.20598	2.06	5.51	4.61	0.57282	.	0.619252	0.14866	N	0.293831	T	0.31451	0.0797	L	0.43152	1.355	0.30948	N	0.725072	D	0.76494	0.999	P	0.58266	0.836	T	0.15321	-1.0441	9	.	.	.	-0.7603	10.2474	0.43350	0.2667:0.604:0.1293:0.0	.	243	Q96IZ0	PAWR_HUMAN	Q	243	ENSP00000328088:R243Q	.	R	-	2	0	PAWR	78514525	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.730000	0.62015	1.299000	0.44798	0.585000	0.79938	CGA		0.363	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1	NM_002583	
OTOGL	283310	broad.mit.edu	37	12	80729895	80729895	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:80729895C>A	ENST00000547103.1	+	38	4518	c.4512C>A	c.(4510-4512)atC>atA	p.I1504I	OTOGL_ENST00000458043.2_Silent_p.I1516I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1504					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.I1516I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAGTGATATCTGCTGCCCTG	0.413																																					p.I1516I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4548A	12						.						91.0	87.0	88.0					12																	80729895		1916	4121	6037	79254026	SO:0001819	synonymous_variant	0	exon38			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4512C>A	12.37:g.80729895C>A			79254026	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37																																																																																					0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
OTOGL	283310	broad.mit.edu	37	12	80746144	80746144	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:80746144G>A	ENST00000547103.1	+	44	5278	c.5272G>A	c.(5272-5274)Gca>Aca	p.A1758T	OTOGL_ENST00000458043.2_Missense_Mutation_p.A1770T			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1758					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.A1770T(1)|p.A135T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAATGTGATGCACTTTCTGC	0.353																																					p.A1770T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5308A	12						.						134.0	124.0	127.0					12																	80746144		1889	4118	6007	79270275	SO:0001583	missense	0	exon44			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5272G>A	12.37:g.80746144G>A	ENSP00000447211:p.Ala1758Thr		79270275	NM_173591	F8W0C3|Q495U8|Q8N8G5|Q8NC28	IGR	SNP	ENST00000547103.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.610453|3.610453	0.66558|0.66558	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	D;D|.	0.86030|.	-2.06;-2.06|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.43188|0.43188	0.1236|0.1236	L|L	0.38838|0.38838	1.175|1.175	0.27000|0.27000	N|N	0.964922|0.964922	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.29181|0.29181	-1.0020|-1.0020	7|5	0.72032|.	D|.	0.01|.	.|.	14.7616|14.7616	0.69610|0.69610	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.	.|.	.|.	.|.	T|I	1758;1770|212	ENSP00000447211:A1758T;ENSP00000400895:A1770T|.	ENSP00000400895:A1770T|.	A|M	+|+	1|3	0|0	OTOGL|OTOGL	79270275|79270275	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.895000|3.895000	0.56258|0.56258	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCA|ATG		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	
MYF6	4618	broad.mit.edu	37	12	81102357	81102357	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:81102357G>A	ENST00000228641.3	+	2	796	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	192					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D192N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGTGTTTCCGATCATTCCAG	0.562																																					p.D192N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	12						.						67.0	73.0	71.0					12																	81102357		2203	4300	6503	79626488	SO:0001583	missense	4618	exon2				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.574G>A	12.37:g.81102357G>A	ENSP00000228641:p.Asp192Asn		79626488	NM_002469	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279542	0.40294	.	.	ENSG00000111046	ENST00000228641	D	0.96200	-3.94	5.36	4.47	0.54385	.	0.135378	0.64402	N	0.000004	D	0.95881	0.8659	M	0.73962	2.25	0.42796	D	0.993913	D	0.69078	0.997	P	0.53760	0.734	D	0.94834	0.7999	10	0.38643	T	0.18	-29.7936	11.4501	0.50147	0.0847:0.0:0.9153:0.0	.	192	P23409	MYF6_HUMAN	N	192	ENSP00000228641:D192N	ENSP00000228641:D192N	D	+	1	0	MYF6	79626488	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.261000	0.51530	1.384000	0.46424	-0.140000	0.14226	GAT		0.562	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469	
PPFIA2	8499	broad.mit.edu	37	12	81688688	81688688	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:81688688G>A	ENST00000549396.1	-	24	3011	c.2851C>T	c.(2851-2853)Cgc>Tgc	p.R951C	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R951C|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R852C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R951C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R951C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R877C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R798C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R936C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R518C|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R168C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R936C	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	951	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R951C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTTTTAAGCGATGCAGTGGA	0.493																																					p.R951C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2851T	12						.						129.0	128.0	128.0					12																	81688688		2059	4223	6282	80212819	SO:0001583	missense	8499	exon24			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2851C>T	12.37:g.81688688G>A	ENSP00000450337:p.Arg951Cys		80212819	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.124018|5.124018	0.94429|0.94429	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	T;T;T;T;T;T;T;T;T|.	0.58210|.	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83303|0.83303	0.5225|0.5225	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.84458|0.84458	0.0592|0.0592	10|5	0.87932|.	D|.	0|.	-6.6626|-6.6626	19.6517|19.6517	0.95819|0.95819	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	951|.	O75334|.	LIPA2_HUMAN|.	C|L	951;936;518;168;877;962;936;951;852;951|116	ENSP00000450337:R951C;ENSP00000450298:R936C;ENSP00000438337:R518C;ENSP00000445532:R168C;ENSP00000385093:R877C;ENSP00000327416:R936C;ENSP00000449338:R951C;ENSP00000388373:R852C;ENSP00000447868:R951C|.	ENSP00000327416:R936C|.	R|S	-|-	1|2	0|0	PPFIA2|PPFIA2	80212819|80212819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.932000|7.932000	0.87634|0.87634	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.493	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:81732974G>A	ENST00000549396.1	-	21	2693	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R746*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R845*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R771*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R692*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R827*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R412*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R62*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R827*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	845					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R845*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413																																					p.R845X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2533T	12						.						197.0	195.0	196.0					12																	81732974		1863	4103	5966	80257105	SO:0001587	stop_gained	8499	exon21			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2533C>T	12.37:g.81732974G>A	ENSP00000450337:p.Arg845*		80257105	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981454|3.981454	0.74474|0.74474	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77905	.|-0.2413	.|3	0.02654|.	T|.	1|.	-9.8226|-9.8226	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	845;827;412;62;771;856;827;845;746;845|7	.|.	ENSP00000327416:R827X|.	R|S	-|-	1|2	2|0	PPFIA2|PPFIA2	80257105|80257105	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.679000|0.679000	0.39708|0.39708	3.168000|3.168000	0.50801|0.50801	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PPFIA2	8499	broad.mit.edu	37	12	82070589	82070589	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:82070589G>T	ENST00000549396.1	-	4	444	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	PPFIA2_ENST00000552948.1_Missense_Mutation_p.S95Y|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S95Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S95Y|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000333447.7_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	95					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.S95Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGCCCCCTTAGAACCAGCCAG	0.423																																					p.S95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284A	12						.						60.0	61.0	61.0					12																	82070589		1848	4086	5934	80594720	SO:0001583	missense	8499	exon4			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.284C>A	12.37:g.82070589G>T	ENSP00000450337:p.Ser95Tyr		80594720	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763252	0.49574	.	.	ENSG00000139220	ENST00000549396;ENST00000541501;ENST00000548586;ENST00000552948;ENST00000547623	T;T;T;T	0.42131	1.31;1.31;1.31;0.98	5.97	5.97	0.96955	.	0.364665	0.26203	N	0.025739	T	0.46034	0.1372	N	0.14661	0.345	0.80722	D	1	P	0.52842	0.956	P	0.61397	0.888	T	0.45977	-0.9224	10	0.54805	T	0.06	.	15.9389	0.79739	0.0:0.0:1.0:0.0	.	95	O75334	LIPA2_HUMAN	Y	95;106;95;95;95	ENSP00000450337:S95Y;ENSP00000449338:S95Y;ENSP00000447868:S95Y;ENSP00000447918:S95Y	ENSP00000439748:S106Y	S	-	2	0	PPFIA2	80594720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.489000	0.60309	2.836000	0.97738	0.655000	0.94253	TCT		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
METTL25	84190	broad.mit.edu	37	12	82796816	82796816	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:82796816C>T	ENST00000248306.3	+	5	1255	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	396							methyltransferase activity (GO:0008168)	p.R396*(1)									AAATACTTTGCGAATATTTAC	0.373																																					p.R396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1186T	12						.						94.0	91.0	92.0					12																	82796816		2203	4300	6503	81320947	SO:0001587	stop_gained	84190	exon5			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1186C>T	12.37:g.82796816C>T	ENSP00000248306:p.Arg396*		81320947	NM_032230	Q9H5Y3	Nonsense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659609	0.47467	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	.	.	.	5.49	0.0525	0.14302	.	0.061591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2559	16.8327	0.85949	0.4112:0.5888:0.0:0.0	.	.	.	.	X	396;31	.	ENSP00000248306:R396X	R	+	1	2	C12orf26	81320947	1.000000	0.71417	0.993000	0.49108	0.249000	0.25844	1.157000	0.31724	0.003000	0.14656	-3.060000	0.00068	CGA		0.373	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	
METTL25	84190	broad.mit.edu	37	12	82850527	82850527	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:82850527T>G	ENST00000248306.3	+	9	1569	c.1500T>G	c.(1498-1500)atT>atG	p.I500M	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	500							methyltransferase activity (GO:0008168)	p.I500M(1)									TTGGTAAAATTTATTCCAAAT	0.284																																					p.I500M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1500G	12						.						75.0	71.0	72.0					12																	82850527		2201	4296	6497	81374658	SO:0001583	missense	84190	exon9			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1500T>G	12.37:g.82850527T>G	ENSP00000248306:p.Ile500Met		81374658	NM_032230	Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.125041	0.56721	.	.	ENSG00000127720	ENST00000248306	T	0.32753	1.44	5.86	2.1	0.27182	.	0.112616	0.64402	D	0.000010	T	0.33789	0.0875	L	0.56769	1.78	0.36813	D	0.88598	D	0.58620	0.983	P	0.54856	0.762	T	0.33497	-0.9866	10	0.32370	T	0.25	-7.9364	1.9312	0.03328	0.2776:0.0766:0.1442:0.5016	.	500	Q8N6Q8	CL026_HUMAN	M	500	ENSP00000248306:I500M	ENSP00000248306:I500M	I	+	3	3	C12orf26	81374658	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.060000	0.14342	0.106000	0.17784	0.528000	0.53228	ATT		0.284	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	
METTL25	84190	broad.mit.edu	37	12	82871104	82871104	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:82871104G>T	ENST00000248306.3	+	11	1761	c.1692G>T	c.(1690-1692)ctG>ctT	p.L564L		NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	564							methyltransferase activity (GO:0008168)	p.L564L(1)									TGATTCTTCTGGATCGACTTT	0.299																																					p.L564L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1692T	12						.						87.0	95.0	92.0					12																	82871104		2203	4293	6496	81395235	SO:0001819	synonymous_variant	84190	exon11			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1692G>T	12.37:g.82871104G>T			81395235	NM_032230	Q9H5Y3	Silent	SNP	ENST00000248306.3	37	CCDS9024.1																																																																																				0.299	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230	
TMTC2	160335	broad.mit.edu	37	12	83424585	83424585	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:83424585G>T	ENST00000321196.3	+	9	2786	c.2079G>T	c.(2077-2079)aaG>aaT	p.K693N	TMTC2_ENST00000549919.1_Missense_Mutation_p.K687N	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	693					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.K693N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGGTCGTAAGAGTGAGGCTG	0.423																																					p.K693N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2079T	12						.						182.0	165.0	171.0					12																	83424585		2203	4300	6503	81948716	SO:0001583	missense	160335	exon9			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2079G>T	12.37:g.83424585G>T	ENSP00000322300:p.Lys693Asn		81948716	NM_152588	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	g	13.35	2.209793	0.39003	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	D;D	0.88354	-2.37;-2.37	5.53	2.68	0.31781	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.132010	0.64402	D	0.000002	D	0.87819	0.6273	L	0.46819	1.47	0.42202	D	0.991774	D	0.53312	0.959	P	0.54815	0.761	D	0.83827	0.0250	10	0.27785	T	0.31	-4.0833	8.2402	0.31656	0.1448:0.0:0.7247:0.1305	.	693	Q8N394	TMTC2_HUMAN	N	693;687;448	ENSP00000322300:K693N;ENSP00000447609:K687N	ENSP00000322300:K693N	K	+	3	2	TMTC2	81948716	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	2.006000	0.40874	0.821000	0.34540	-0.224000	0.12420	AAG		0.423	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
TMTC2	160335	broad.mit.edu	37	12	83526117	83526117	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:83526117C>T	ENST00000321196.3	+	12	3167	c.2460C>T	c.(2458-2460)cgC>cgT	p.R820R	TMTC2_ENST00000549919.1_Silent_p.R814R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	820					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.R820R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CCAATCTCCGCAAACTGTGGA	0.517																																					p.R820R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2460T	12						.						98.0	79.0	85.0					12																	83526117		2203	4300	6503	82050248	SO:0001819	synonymous_variant	160335	exon12			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2460C>T	12.37:g.83526117C>T			82050248	NM_152588	B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	CCDS9025.1																																																																																				0.517	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
SLC6A15	55117	broad.mit.edu	37	12	85266480	85266480	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85266480T>G	ENST00000266682.5	-	8	1744	c.1203A>C	c.(1201-1203)gaA>gaC	p.E401D	SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Missense_Mutation_p.E294D|SLC6A15_ENST00000309283.7_Missense_Mutation_p.E109D	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	401					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.E401D(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AATGATAATCTTCTGCAGTAA	0.318																																					p.E401D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1203C	12						.						75.0	77.0	77.0					12																	85266480		2203	4297	6500	83790611	SO:0001583	missense	55117	exon8			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1203A>C	12.37:g.85266480T>G	ENSP00000266682:p.Glu401Asp		83790611	NM_182767	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	8.742	0.919214	0.17982	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.78364	-1.17;-0.75;-0.94	5.46	0.789	0.18607	.	0.344782	0.30762	N	0.008935	T	0.58949	0.2158	L	0.31371	0.925	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.15870	0.005;0.014	T	0.37526	-0.9702	10	0.18276	T	0.48	.	5.7965	0.18389	0.1257:0.1693:0.0:0.705	.	109;401	F8WJN6;Q9H2J7	.;S6A15_HUMAN	D	109;401;117;294;109	ENSP00000311645:E109D;ENSP00000266682:E401D;ENSP00000450145:E294D	ENSP00000266682:E401D	E	-	3	2	SLC6A15	83790611	0.998000	0.40836	0.981000	0.43875	0.793000	0.44817	0.366000	0.20365	0.369000	0.24510	0.460000	0.39030	GAA		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
SLC6A15	55117	broad.mit.edu	37	12	85266553	85266553	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85266553T>G	ENST00000266682.5	-	8	1671	c.1130A>C	c.(1129-1131)aAa>aCa	p.K377T	SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000552192.1_Missense_Mutation_p.K270T|SLC6A15_ENST00000309283.7_Missense_Mutation_p.K85T	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	377					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.K377T(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTTCAAAAATTTCATGATCGT	0.318																																					p.K377T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1130C	12						.						48.0	49.0	49.0					12																	85266553		2202	4298	6500	83790684	SO:0001583	missense	55117	exon8			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1130A>C	12.37:g.85266553T>G	ENSP00000266682:p.Lys377Thr		83790684	NM_182767	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	T	8.918	0.960326	0.18507	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.78126	-1.15;-0.7;-0.9	5.68	0.52	0.17040	.	0.315984	0.34580	N	0.003849	T	0.58524	0.2128	L	0.28556	0.865	0.09310	N	0.999994	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.005	T	0.35126	-0.9801	10	0.13853	T	0.58	.	6.1806	0.20470	0.0:0.1343:0.2541:0.6115	.	85;377	F8WJN6;Q9H2J7	.;S6A15_HUMAN	T	85;377;93;270;85	ENSP00000311645:K85T;ENSP00000266682:K377T;ENSP00000450145:K270T	ENSP00000266682:K377T	K	-	2	0	SLC6A15	83790684	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.012000	0.12699	0.059000	0.16252	0.383000	0.25322	AAA		0.318	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
TSPAN19	144448	broad.mit.edu	37	12	85423699	85423699	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85423699A>C	ENST00000532498.2	-	2	106	c.26T>G	c.(25-27)aTt>aGt	p.I9S	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	9						integral component of membrane (GO:0016021)		p.I9S(1)		ovary(1)	1						GTACTTAATAATTATTGTTTT	0.244																																					p.I9S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T26G	12						.						17.0	16.0	17.0					12																	85423699		1714	3862	5576	83947830	SO:0001583	missense	144448	exon2				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.26T>G	12.37:g.85423699A>C	ENSP00000433816:p.Ile9Ser		83947830	NM_001100917		Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901371	0.33535	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T	0.42513	0.97	4.49	4.49	0.54785	.	.	.	.	.	T	0.39279	0.1072	N	0.08118	0	0.27535	N	0.950966	D	0.56746	0.977	P	0.59357	0.856	T	0.27191	-1.0081	9	0.87932	D	0	.	10.7543	0.46228	1.0:0.0:0.0:0.0	.	9	P0C672	TSN19_HUMAN	S	9	ENSP00000433816:I9S	ENSP00000408184:I9S	I	-	2	0	TSPAN19	83947830	0.915000	0.31059	0.705000	0.30386	0.223000	0.24884	1.963000	0.40452	1.974000	0.57490	0.379000	0.24179	ATT		0.244	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917	
LRRIQ1	84125	broad.mit.edu	37	12	85492678	85492678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85492678G>T	ENST00000393217.2	+	13	3176	c.3115G>T	c.(3115-3117)Gaa>Taa	p.E1039*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1039								p.E1039*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTACTAAGAGAATTGCACTT	0.294																																					p.E1039X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G3115T	12						.						82.0	85.0	84.0					12																	85492678		2202	4294	6496	84016809	SO:0001587	stop_gained	84125	exon13			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3115G>T	12.37:g.85492678G>T	ENSP00000376910:p.Glu1039*		84016809	NM_032165	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	40	8.443873	0.98813	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.4	5.4	0.78164	.	0.056303	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.9326	0.70929	0.0:0.0:0.848:0.152	.	.	.	.	X	1039;1014;1039	.	ENSP00000256007:E1039X	E	+	1	0	LRRIQ1	84016809	1.000000	0.71417	0.998000	0.56505	0.796000	0.44982	2.903000	0.48711	2.521000	0.84997	0.585000	0.79938	GAA		0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85518255	85518255	+	Missense_Mutation	SNP	C	C	A	rs141671586		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85518255C>A	ENST00000393217.2	+	17	4026	c.3965C>A	c.(3964-3966)tCt>tAt	p.S1322Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1322								p.S1322Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGACAAATTCTTTGCTGAGG	0.328																																					p.S1322Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3965A	12						.						135.0	154.0	147.0					12																	85518255		2203	4299	6502	84042386	SO:0001583	missense	84125	exon17			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3965C>A	12.37:g.85518255C>A	ENSP00000376910:p.Ser1322Tyr		84042386	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318999	0.23994	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.58652	0.32	4.81	-0.495	0.12030	.	0.780949	0.11050	N	0.605142	T	0.29556	0.0737	N	0.14661	0.345	0.09310	N	1	P;P	0.41947	0.766;0.766	B;B	0.37047	0.24;0.24	T	0.13629	-1.0502	10	0.33141	T	0.24	.	0.7746	0.01030	0.37:0.2758:0.1143:0.2399	.	1322;1297	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	1322;1297;1322	ENSP00000376910:S1322Y	ENSP00000256007:S1322Y	S	+	2	0	LRRIQ1	84042386	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.064000	0.11636	0.065000	0.16485	-0.923000	0.02734	TCT		0.328	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
ALX1	8092	broad.mit.edu	37	12	85677605	85677605	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:85677605T>C	ENST00000316824.3	+	2	637	c.482T>C	c.(481-483)gTc>gCc	p.V161A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	161					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.V161A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GATGTGTATGTCAGAGAACAG	0.498																																					p.V161A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T482C	12						.						105.0	108.0	107.0					12																	85677605		2203	4300	6503	84201736	SO:0001583	missense	8092	exon2			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.482T>C	12.37:g.85677605T>C	ENSP00000315417:p.Val161Ala		84201736	NM_006982	Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275942	0.23307	.	.	ENSG00000180318	ENST00000316824	D	0.95205	-3.64	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	N	0.02011	-0.69	0.80722	D	1	B	0.23249	0.082	B	0.29663	0.105	T	0.82277	-0.0537	10	0.14656	T	0.56	.	16.1307	0.81436	0.0:0.0:0.0:1.0	.	161	Q15699	ALX1_HUMAN	A	161	ENSP00000315417:V161A	ENSP00000315417:V161A	V	+	2	0	ALX1	84201736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.278000	0.43426	2.263000	0.75096	0.533000	0.62120	GTC		0.498	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
RASSF9	9182	broad.mit.edu	37	12	86199586	86199586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:86199586G>A	ENST00000361228.3	-	2	570	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	68	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.R68*(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAAGAAATCGTTTCTCTCCA	0.488																																					p.R68X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C202T	12						.						114.0	113.0	114.0					12																	86199586		1924	4151	6075	84723717	SO:0001587	stop_gained	9182	exon2				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.202C>T	12.37:g.86199586G>A	ENSP00000354884:p.Arg68*		84723717	NM_005447	B3KMQ4|Q8N5U8	Nonsense_Mutation	SNP	ENST00000361228.3	37	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964432	0.97151	.	.	ENSG00000198774	ENST00000361228	.	.	.	4.82	3.92	0.45320	.	0.336013	0.23175	N	0.051097	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-11.4453	12.0462	0.53480	0.0:0.0:0.5223:0.4777	.	.	.	.	X	68	.	ENSP00000354884:R68X	R	-	1	2	RASSF9	84723717	0.994000	0.37717	0.997000	0.53966	0.889000	0.51656	3.302000	0.51849	1.149000	0.42402	-0.426000	0.05927	CGA		0.488	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
NTS	4922	broad.mit.edu	37	12	86276136	86276136	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:86276136G>T	ENST00000256010.6	+	4	603	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	NTS_ENST00000551529.1_Missense_Mutation_p.D91Y	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	166					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)		p.D166Y(1)		large_intestine(2)|lung(6)	8						ACTCAAAAGAGATTCTTACTA	0.299																																					p.D166Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496T	12						.						90.0	104.0	100.0					12																	86276136		2201	4294	6495	84800267	SO:0001583	missense	4922	exon4				CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"""Endogenous ligands"""	8038	protein-coding gene	gene with protein product	"""neuromedin N"", ""pro-neurotensin/neuromedin"""	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.496G>T	12.37:g.86276136G>T	ENSP00000256010:p.Asp166Tyr		84800267	NM_006183		Missense_Mutation	SNP	ENST00000256010.6	37	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168372	0.38315	.	.	ENSG00000133636	ENST00000551529;ENST00000256010;ENST00000550879	.	.	.	5.84	3.8	0.43715	.	0.479844	0.23975	N	0.042726	T	0.16085	0.0387	N	0.08118	0	0.24387	N	0.994769	P	0.40834	0.73	B	0.41440	0.357	T	0.04915	-1.0918	9	0.51188	T	0.08	-0.5009	6.4088	0.21680	0.3166:0.0:0.6834:0.0	.	166	P30990	NEUT_HUMAN	Y	91;166;111	.	ENSP00000256010:D166Y	D	+	1	0	NTS	84800267	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	2.725000	0.47294	1.492000	0.48499	0.591000	0.81541	GAT		0.299	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2		
MGAT4C	25834	broad.mit.edu	37	12	86373678	86373678	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:86373678A>C	ENST00000604798.1	-	8	2030	c.826T>G	c.(826-828)Tta>Gta	p.L276V	MGAT4C_ENST00000332156.1_Missense_Mutation_p.L276V|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L305V|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L276V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L276V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L276V			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	276					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.L276V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACATTAATAAAAAATGGGCC	0.383																																					p.L276V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T826G	12						.						59.0	60.0	60.0					12																	86373678		2203	4300	6503	84897809	SO:0001583	missense	25834	exon7				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.826T>G	12.37:g.86373678A>C	ENSP00000474896:p.Leu276Val		84897809	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370153	0.24771	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.75	4.61	0.57282	.	0.082464	0.52532	D	0.000075	T	0.64505	0.2604	M	0.71206	2.165	0.47374	D	0.999403	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63088	-0.6715	10	0.39692	T	0.17	-12.6387	10.4604	0.44577	0.8652:0.0:0.1348:0.0	.	305;276	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	276;305;276;276;276;276;276	ENSP00000331664:L276V;ENSP00000376900:L305V;ENSP00000449022:L276V;ENSP00000446647:L276V;ENSP00000447253:L276V;ENSP00000449172:L276V	ENSP00000331664:L276V	L	-	1	2	MGAT4C	84897809	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	5.037000	0.64170	1.002000	0.39104	-0.296000	0.09543	TTA		0.383	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
MGAT4C	25834	broad.mit.edu	37	12	86383263	86383263	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:86383263C>A	ENST00000604798.1	-	6	1266	c.62G>T	c.(61-63)aGa>aTa	p.R21I	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R21I|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R50I|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R21I|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R21I|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R21I|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R21I			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	21					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R21I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGAACGTTTTCTCAGGCATCT	0.328																																					p.R21I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62T	12						.						80.0	70.0	73.0					12																	86383263		2202	4300	6502	84907394	SO:0001583	missense	25834	exon5				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.62G>T	12.37:g.86383263C>A	ENSP00000474896:p.Arg21Ile		84907394	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851544	0.71719	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.48522	1.39;1.34;1.39;1.39;1.39;0.81	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.61324	0.2338	L	0.34521	1.04	0.80722	D	1	D;B	0.76494	0.999;0.099	D;B	0.80764	0.994;0.04	T	0.62690	-0.6801	10	0.66056	D	0.02	-6.1035	19.8034	0.96518	0.0:1.0:0.0:0.0	.	50;21	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	I	21;50;21;21;21;21;21;21	ENSP00000331664:R21I;ENSP00000376900:R50I;ENSP00000449022:R21I;ENSP00000446647:R21I;ENSP00000447253:R21I;ENSP00000449172:R21I	ENSP00000331664:R21I	R	-	2	0	MGAT4C	84907394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.179000	0.77665	2.669000	0.90835	0.655000	0.94253	AGA		0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
C12orf29	91298	broad.mit.edu	37	12	88439529	88439529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88439529G>T	ENST00000356891.3	+	5	795	c.592G>T	c.(592-594)Gga>Tga	p.G198*	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	198					hematopoietic progenitor cell differentiation (GO:0002244)			p.G198*(1)		large_intestine(3)|lung(1)|ovary(1)	5						GGAACTCATAGGAACAAATAT	0.353																																					p.G198X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G592T	12						.						73.0	71.0	72.0					12																	88439529		2203	4299	6502	86963660	SO:0001587	stop_gained	91298	exon5			AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.592G>T	12.37:g.88439529G>T	ENSP00000349358:p.Gly198*		86963660	NM_001009894	Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Nonsense_Mutation	SNP	ENST00000356891.3	37	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957725	0.97145	.	.	ENSG00000133641	ENST00000356891	.	.	.	5.64	5.64	0.86602	.	0.051237	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3003	17.8768	0.88827	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000349358:G198X	G	+	1	0	C12orf29	86963660	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.872000	0.92352	2.666000	0.90696	0.655000	0.94253	GGA		0.353	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894	
CEP290	80184	broad.mit.edu	37	12	88465129	88465129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88465129C>A	ENST00000552810.1	-	43	6296	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.E1987*|CEP290_ENST00000547691.2_Nonsense_Mutation_p.E1045*|CEP290_ENST00000397838.3_Nonsense_Mutation_p.E1045*	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1985					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E1987*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCCAATTCTTTTTCTGAC	0.343																																					p.E1985X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5953T	12						.						114.0	100.0	104.0					12																	88465129		1797	4068	5865	86989260	SO:0001587	stop_gained	80184	exon43			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5953G>T	12.37:g.88465129C>A	ENSP00000448012:p.Glu1985*		86989260	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	49	15.160921	0.99824	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	.	.	.	5.23	5.23	0.72850	.	0.044989	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	19.1622	0.93537	0.0:1.0:0.0:0.0	.	.	.	.	X	1045;1985;1987;1045	.	ENSP00000308021:E1987X	E	-	1	0	CEP290	86989260	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.087000	0.57671	2.608000	0.88229	0.484000	0.47621	GAA		0.343	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88465636	88465636	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88465636C>T	ENST00000552810.1	-	42	6120	c.5777G>A	c.(5776-5778)cGa>cAa	p.R1926Q	CEP290_ENST00000309041.7_Missense_Mutation_p.R1928Q|CEP290_ENST00000547691.2_Missense_Mutation_p.R986Q|CEP290_ENST00000397838.3_Missense_Mutation_p.R986Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1926					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1928Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAACTTGTTTCGAATTCCTTC	0.328																																					p.R1926Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5777A	12						.						104.0	93.0	97.0					12																	88465636		1805	4068	5873	86989767	SO:0001583	missense	80184	exon42			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5777G>A	12.37:g.88465636C>T	ENSP00000448012:p.Arg1926Gln		86989767	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275118	0.80580	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66815	0.29;-0.23;-0.23;0.29	5.34	5.34	0.76211	.	0.118436	0.56097	D	0.000027	T	0.78227	0.4250	M	0.72118	2.19	0.47949	D	0.99955	D	0.89917	1.0	D	0.72625	0.978	T	0.73310	-0.4023	10	0.02654	T	1	.	19.0366	0.92982	0.0:1.0:0.0:0.0	.	1926	O15078	CE290_HUMAN	Q	986;1926;1928;986	ENSP00000446905:R986Q;ENSP00000448012:R1926Q;ENSP00000308021:R1928Q;ENSP00000380938:R986Q	ENSP00000308021:R1928Q	R	-	2	0	CEP290	86989767	0.976000	0.34144	0.993000	0.49108	0.740000	0.42216	3.380000	0.52448	2.498000	0.84270	0.460000	0.39030	CGA		0.328	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88505621	88505621	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88505621C>A	ENST00000552810.1	-	21	2410	c.2067G>T	c.(2065-2067)aaG>aaT	p.K689N	CEP290_ENST00000309041.7_Missense_Mutation_p.K691N|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	689					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.K691N(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTCTGCATTCTTTGATTCTA	0.338																																					p.K689N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2067T	12						.						29.0	26.0	27.0					12																	88505621		1785	4062	5847	87029752	SO:0001583	missense	80184	exon21			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2067G>T	12.37:g.88505621C>A	ENSP00000448012:p.Lys689Asn		87029752	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.457990|5.457990	0.96240|0.96240	.|.	.|.	ENSG00000198707|ENSG00000198707	ENST00000545139|ENST00000552810;ENST00000309041;ENST00000536998	.|T;T	.|0.78816	.|-1.21;-1.21	5.75|5.75	0.879|0.879	0.19155|0.19155	.|.	.|0.268680	.|0.37053	.|N	.|0.002271	.|T	.|0.73583	.|0.3605	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P;P	.|0.46142	.|0.873;0.804	.|P;P	.|0.47376	.|0.447;0.545	.|T	.|0.68557	.|-0.5377	.|10	0.66056|0.38643	D|T	0.02|0.18	.|.	9.9222|9.9222	0.41470|0.41470	0.0:0.6703:0.0:0.3297|0.0:0.6703:0.0:0.3297	.|.	.|689;689	.|Q05BJ6;O15078	.|.;CE290_HUMAN	X|N	544|689;691;689	.|ENSP00000448012:K689N;ENSP00000308021:K691N	ENSP00000444813:E544X|ENSP00000308021:K691N	E|K	-|-	1|3	0|2	CEP290|CEP290	87029752|87029752	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	0.743000|0.743000	0.26231|0.26231	0.100000|0.100000	0.17581|0.17581	-0.244000|-0.244000	0.11960|0.11960	GAA|AAG		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88512329	88512329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88512329C>A	ENST00000552810.1	-	17	1985	c.1642G>T	c.(1642-1644)Gaa>Taa	p.E548*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.E550*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	548					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E550*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAAGTCGTTCTTCCTCTAGA	0.323																																					p.E548X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1642T	12						.						69.0	60.0	62.0					12																	88512329		1800	4050	5850	87036460	SO:0001587	stop_gained	80184	exon17			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1642G>T	12.37:g.88512329C>A	ENSP00000448012:p.Glu548*		87036460	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Nonsense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	41	9.091683	0.99062	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	12.7687	0.57408	0.0:0.9255:0.0:0.0745	.	.	.	.	X	548;550;548;450	.	ENSP00000308021:E550X	E	-	1	0	CEP290	87036460	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.443000	0.66581	2.601000	0.87937	0.585000	0.79938	GAA		0.323	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
CEP290	80184	broad.mit.edu	37	12	88514015	88514015	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88514015C>A	ENST00000552810.1	-	15	1741	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N	CEP290_ENST00000309041.7_Missense_Mutation_p.K466N|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	466					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.K466N(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTACAATTCTTTATTTCAA	0.249																																					p.K466N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1398T	12						.						58.0	50.0	53.0					12																	88514015		1786	4040	5826	87038146	SO:0001583	missense	80184	exon15			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1398G>T	12.37:g.88514015C>A	ENSP00000448012:p.Lys466Asn		87038146	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454440	0.43634	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.71579	-0.58;-0.55	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.70275	2.135	0.80722	D	1	B;B	0.27997	0.082;0.197	B;B	0.28465	0.058;0.09	T	0.63497	-0.6624	10	0.34782	T	0.22	.	8.5795	0.33619	0.0:0.7298:0.1276:0.1426	.	466;466	Q05BJ6;O15078	.;CE290_HUMAN	N	466;466;466;368	ENSP00000448012:K466N;ENSP00000308021:K466N	ENSP00000308021:K466N	K	-	3	2	CEP290	87038146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.210000	0.32370	1.335000	0.45486	0.650000	0.86243	AAG		0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
TMTC3	160418	broad.mit.edu	37	12	88547113	88547113	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88547113C>T	ENST00000266712.6	+	3	455	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	79					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.R79C(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATTGACATTTCGCTTAAATTA	0.353																																					p.R79C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235T	12						.						107.0	95.0	99.0					12																	88547113		2203	4299	6502	87071244	SO:0001583	missense	160418	exon3				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.235C>T	12.37:g.88547113C>T	ENSP00000266712:p.Arg79Cys		87071244	NM_181783	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285838	0.95517	.	.	ENSG00000139324	ENST00000549011;ENST00000266712	D;T	0.94897	-3.55;-0.32	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97832	1.0263	10	0.66056	D	0.02	-7.7387	20.4324	0.99085	0.0:1.0:0.0:0.0	.	79	Q6ZXV5-2	.	C	79	ENSP00000447640:R79C;ENSP00000266712:R79C	ENSP00000266712:R79C	R	+	1	0	TMTC3	87071244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.689000	0.68234	2.833000	0.97629	0.585000	0.79938	CGC		0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
TMTC3	160418	broad.mit.edu	37	12	88586433	88586433	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88586433C>A	ENST00000266712.6	+	13	1979	c.1759C>A	c.(1759-1761)Ctt>Att	p.L587I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	587					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.L587I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GGAAGCATATCTTAAAGCACT	0.333																																					p.L587I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1759A	12						.						84.0	87.0	86.0					12																	88586433		2203	4299	6502	87110564	SO:0001583	missense	160418	exon13				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1759C>A	12.37:g.88586433C>A	ENSP00000266712:p.Leu587Ile		87110564	NM_181783	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431844	0.43122	.	.	ENSG00000139324	ENST00000266712	T	0.60040	0.22	5.71	5.71	0.89125	.	0.058070	0.64402	D	0.000001	T	0.52256	0.1723	L	0.48935	1.535	0.44798	D	0.997809	B	0.11235	0.004	B	0.17722	0.019	T	0.44967	-0.9293	10	0.39692	T	0.17	-17.0777	14.6645	0.68896	0.1454:0.8546:0.0:0.0	.	587	Q6ZXV5-2	.	I	587	ENSP00000266712:L587I	ENSP00000266712:L587I	L	+	1	0	TMTC3	87110564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.733000	0.62036	2.705000	0.92388	0.585000	0.79938	CTT		0.333	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
TMTC3	160418	broad.mit.edu	37	12	88588653	88588653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88588653C>A	ENST00000266712.6	+	14	2192	c.1972C>A	c.(1972-1974)Cta>Ata	p.L658I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	659					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.L658I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAACGACTTCTAAGTTATAT	0.313																																					p.L658I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1972A	12						.						71.0	74.0	73.0					12																	88588653		2203	4299	6502	87112784	SO:0001583	missense	160418	exon14				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1972C>A	12.37:g.88588653C>A	ENSP00000266712:p.Leu658Ile		87112784	NM_181783	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265010	0.59431	.	.	ENSG00000139324	ENST00000266712	T	0.64803	-0.12	5.83	2.04	0.26737	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.66939	2.045	0.44694	D	0.997684	D	0.58620	0.983	P	0.58820	0.846	T	0.64558	-0.6379	10	0.34782	T	0.22	-11.3065	9.7638	0.40548	0.0:0.6021:0.0:0.3979	.	658	Q6ZXV5-2	.	I	658	ENSP00000266712:L658I	ENSP00000266712:L658I	L	+	1	2	TMTC3	87112784	0.943000	0.32029	0.970000	0.41538	0.986000	0.74619	0.209000	0.17435	0.112000	0.17975	0.591000	0.81541	CTA		0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	
KITLG	4254	broad.mit.edu	37	12	88912555	88912555	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:88912555G>T	ENST00000228280.5	-	4	464	c.282C>A	c.(280-282)ggC>ggA	p.G94G	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000347404.5_Silent_p.G94G|KITLG_ENST00000378535.4_5'UTR	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	94					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.G94G(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AATTACTCAAGCCTTCAGAAA	0.378									Testicular Cancer, Familial Clustering of																												p.G94G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	12						.						115.0	110.0	112.0					12																	88912555		2203	4300	6503	87436686	SO:0001819	synonymous_variant	4254	exon4	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.282C>A	12.37:g.88912555G>T			87436686	NM_003994	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Silent	SNP	ENST00000228280.5	37	CCDS31868.1																																																																																				0.378	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994	
POC1B	282809	broad.mit.edu	37	12	89918951	89918951	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:89918951C>A	ENST00000313546.3	-	2	174	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549035.1_De_novo_Start_OutOfFrame|POC1B_ENST00000549504.1_De_novo_Start_InFrame|POC1B_ENST00000393179.4_De_novo_Start_InFrame|POC1B_ENST00000541909.1_De_novo_Start_InFrame|GALNT4_ENST00000413530.1_Missense_Mutation_p.K102N|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G16C|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.G16C|GALNT4_ENST00000529983.2_5'Flank	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	16					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.K102N(1)|p.G16C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCTTTGTGGCCTTTGAAATAA	0.498											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G16C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G46T	12						.						107.0	93.0	98.0					12																	89918951		2203	4300	6503	88443082	SO:0001583	missense	282809	exon2			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.46G>T	12.37:g.89918951C>A	ENSP00000323302:p.Gly16Cys	1271	88443082	NM_001199781	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.527716|4.527716	0.85706|0.85706	.|.	.|.	ENSG00000139323;ENSG00000259075;ENSG00000259075|ENSG00000259075	ENST00000313546;ENST00000548729;ENST00000547474|ENST00000413530	T;T;D|T	0.85411|0.73047	-0.51;-0.03;-1.98|-0.71	4.61|4.61	4.61|4.61	0.57282|0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.056051|.	0.64402|.	D|.	0.000001|.	D|D	0.84920|0.84920	0.5579|0.5579	M|M	0.91768|0.91768	3.24|3.24	0.29016|0.29016	N|N	0.886608|0.886608	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.995|.	T|T	0.81627|0.81627	-0.0847|-0.0847	10|7	0.87932|0.66056	D|D	0|0.02	.|.	14.2869|14.2869	0.66251|0.66251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	16;16|.	F8VUJ3;Q8TC44|.	.;POC1B_HUMAN|.	C|N	16|102	ENSP00000323302:G16C;ENSP00000447852:G16C;ENSP00000447754:G16C|ENSP00000389686:K102N	ENSP00000323302:G16C|ENSP00000389686:K102N	G|K	-|-	1|3	0|2	POC1B;RP11-1109F11.4|RP11-1109F11.4	88443082|88443082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.287000|4.287000	0.59001|0.59001	2.377000|2.377000	0.81083|0.81083	0.555000|0.555000	0.69702|0.69702	GGC|AAG		0.498	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
ATP2B1	490	broad.mit.edu	37	12	90013815	90013815	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:90013815C>T	ENST00000428670.3	-	11	2246	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	ATP2B1_ENST00000393164.2_Missense_Mutation_p.R340Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R597Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R597Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R597Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	597					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R597Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCTGAATATTCGATAACTTCC	0.353																																					p.R597Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1790A	12						.						113.0	110.0	111.0					12																	90013815		2203	4300	6503	88537946	SO:0001583	missense	490	exon10			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1790G>A	12.37:g.90013815C>T	ENSP00000392043:p.Arg597Gln		88537946	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374897	0.95923	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72624	2.21	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.994	D;P;P	0.77557	0.99;0.747;0.516	D	0.97880	1.0291	10	0.66056	D	0.02	-38.6369	19.3416	0.94344	0.0:1.0:0.0:0.0	.	597;597;597	P20020-3;P20020-2;P20020-6	.;.;.	Q	597;597;597;597;340	ENSP00000261173:R597Q;ENSP00000343599:R597Q;ENSP00000352054:R597Q;ENSP00000392043:R597Q;ENSP00000376869:R340Q	ENSP00000261173:R597Q	R	-	2	0	ATP2B1	88537946	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.086000	0.71352	2.560000	0.86352	0.467000	0.42956	CGA		0.353	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP2B1	490	broad.mit.edu	37	12	90049477	90049477	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:90049477A>C	ENST00000428670.3	-	2	643	c.187T>G	c.(187-189)Ttg>Gtg	p.L63V	ATP2B1_ENST00000348959.3_Missense_Mutation_p.L63V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.L63V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.L63V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	63					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.L63V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GATGTTTTCAATTTGGTGCAA	0.393																																					p.L63V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T187G	12						.						73.0	71.0	72.0					12																	90049477		2203	4300	6503	88573608	SO:0001583	missense	490	exon1			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.187T>G	12.37:g.90049477A>C	ENSP00000392043:p.Leu63Val		88573608	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436710	0.62955	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000551310	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.48	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.81341	2.54	0.58432	D	0.999991	D;P	0.71674	0.998;0.71	D;P	0.77557	0.99;0.71	D	0.91045	0.4874	9	.	.	.	-20.2277	11.3987	0.49858	0.9287:0.0:0.0713:0.0	.	63;63	P20020-3;P20020-2	.;.	V	63	ENSP00000261173:L63V;ENSP00000343599:L63V;ENSP00000352054:L63V;ENSP00000392043:L63V	.	L	-	1	2	ATP2B1	88573608	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.245000	0.58734	1.011000	0.39340	0.482000	0.46254	TTG		0.393	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
CCER1	196477	broad.mit.edu	37	12	91347473	91347473	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91347473C>A	ENST00000358859.2	-	1	1480	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	349	Glu-rich.							p.E349D(1)									TCTGCTCGTTCTCCTCCAGGA	0.493																																					p.E349D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1047T	12						.						189.0	164.0	172.0					12																	91347473		2203	4300	6503	89871604	SO:0001583	missense	196477	exon1			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1047G>T	12.37:g.91347473C>A	ENSP00000351727:p.Glu349Asp		89871604	NM_152638	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039767	0.19669	.	.	ENSG00000197651	ENST00000358859	T	0.25579	1.79	5.04	3.2	0.36748	.	0.787422	0.10360	N	0.684115	T	0.15046	0.0363	N	0.24115	0.695	0.09310	N	1	P	0.36144	0.539	B	0.30179	0.112	T	0.16188	-1.0411	10	0.54805	T	0.06	-6.0543	6.0762	0.19917	0.1861:0.719:0.0:0.0948	.	349	Q8TC90	CL012_HUMAN	D	349	ENSP00000351727:E349D	ENSP00000351727:E349D	E	-	3	2	C12orf12	89871604	0.002000	0.14202	0.112000	0.21494	0.086000	0.17979	0.065000	0.14466	0.705000	0.31890	0.460000	0.39030	GAG		0.493	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
EPYC	1833	broad.mit.edu	37	12	91358079	91358079	+	Missense_Mutation	SNP	C	C	T	rs138857092		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91358079C>T	ENST00000261172.3	-	7	915	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	275					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.E275K(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AACGTATCTTCGTGCATTTCC	0.338																																					p.E275K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G823A	12						.	C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	95.0	88.0	90.0		823	5.5	1.0	12	dbSNP_134	90	0,8600		0,0,4300	no	missense	EPYC	NM_004950.4	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	275/323	91358079	2,13004	2203	4300	6503	89882210	SO:0001583	missense	1833	exon7			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.823G>A	12.37:g.91358079C>T	ENSP00000261172:p.Glu275Lys		89882210	NM_004950	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169056	0.78339	4.54E-4	0.0	ENSG00000083782	ENST00000261172	T	0.02421	4.3	5.54	5.54	0.83059	.	0.043221	0.85682	D	0.000000	T	0.04724	0.0128	L	0.52364	1.645	0.80722	D	1	P	0.38335	0.627	B	0.35073	0.195	T	0.54636	-0.8264	10	0.25106	T	0.35	.	19.5595	0.95367	0.0:1.0:0.0:0.0	.	275	Q99645	EPYC_HUMAN	K	275	ENSP00000261172:E275K	ENSP00000261172:E275K	E	-	1	0	EPYC	89882210	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.690000	0.68241	2.613000	0.88420	0.586000	0.80456	GAA		0.338	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950	
EPYC	1833	broad.mit.edu	37	12	91363821	91363821	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91363821C>A	ENST00000261172.3	-	6	890	c.798G>T	c.(796-798)caG>caT	p.Q266H		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	266					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.Q266H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGACTCCTACCTGGAGGTGAA	0.478																																					p.Q266H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G798T	12						.						184.0	185.0	185.0					12																	91363821		2203	4300	6503	89887952	SO:0001630	splice_region_variant	1833	exon6			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.798+1G>T	12.37:g.91363821C>A			89887952	NM_004950	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490229	0.64074	.	.	ENSG00000083782	ENST00000261172	T	0.02446	4.29	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.06781	0.0173	M	0.64404	1.975	0.80722	D	1	P	0.50066	0.931	P	0.48089	0.566	T	0.19943	-1.0290	9	.	.	.	.	12.3739	0.55269	0.0:0.9229:0.0:0.0771	.	266	Q99645	EPYC_HUMAN	H	266	ENSP00000261172:Q266H	.	Q	-	3	2	EPYC	89887952	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.639000	0.67868	2.491000	0.84063	0.467000	0.42956	CAG		0.478	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950	Missense_Mutation
KERA	11081	broad.mit.edu	37	12	91449223	91449223	+	Missense_Mutation	SNP	C	C	T	rs371954775		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91449223C>T	ENST00000266719.3	-	2	1083	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	279					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.R279Q(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGCACTGATTCGGGGAACCTT	0.408																																					p.R279Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G836A	12						.	C	GLN/ARG	0,4406		0,0,2203	121.0	114.0	116.0		836	5.0	1.0	12		116	1,8597	1.2+/-3.3	0,1,4298	no	missense	KERA	NM_007035.3	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	279/353	91449223	1,13003	2203	4299	6502	89973354	SO:0001583	missense	11081	exon2			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.836G>A	12.37:g.91449223C>T	ENSP00000266719:p.Arg279Gln		89973354	NM_007035		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	8.688	0.906658	0.17833	0.0	1.16E-4	ENSG00000139330	ENST00000266719	T	0.17854	2.25	5.91	4.97	0.65823	.	0.676237	0.15520	N	0.258104	T	0.09730	0.0239	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36480	-0.9746	10	0.13853	T	0.58	-11.0118	5.2909	0.15727	0.1222:0.6232:0.1722:0.0824	.	279	O60938	KERA_HUMAN	Q	279	ENSP00000266719:R279Q	ENSP00000266719:R279Q	R	-	2	0	KERA	89973354	0.055000	0.20627	0.999000	0.59377	0.651000	0.38670	0.858000	0.27845	1.405000	0.46838	0.655000	0.94253	CGA		0.408	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	
KERA	11081	broad.mit.edu	37	12	91449839	91449839	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91449839A>C	ENST00000266719.3	-	2	467	c.220T>G	c.(220-222)Tgg>Ggg	p.W74G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	74					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.W74G(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TAAAGATACCAAATTCTTGAA	0.373																																					p.W74G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T220G	12						.						98.0	92.0	94.0					12																	91449839		2203	4297	6500	89973970	SO:0001583	missense	11081	exon2			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.220T>G	12.37:g.91449839A>C	ENSP00000266719:p.Trp74Gly		89973970	NM_007035		Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.480151	0.44044	.	.	ENSG00000139330	ENST00000266719	T	0.17691	2.26	5.84	2.02	0.26589	Leucine-rich repeat-containing N-terminal (1);	0.050640	0.85682	D	0.000000	T	0.07188	0.0182	N	0.02247	-0.625	0.58432	D	0.999999	B	0.26809	0.16	B	0.37989	0.262	T	0.35699	-0.9778	10	0.20519	T	0.43	-0.1214	5.5058	0.16854	0.685:0.0:0.1972:0.1178	.	74	O60938	KERA_HUMAN	G	74	ENSP00000266719:W74G	ENSP00000266719:W74G	W	-	1	0	KERA	89973970	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.980000	0.49321	0.096000	0.17463	0.529000	0.55759	TGG		0.373	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035	
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	C	T	rs267603717		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:91502039C>T	ENST00000266718.4	-	2	1172	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	240					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.E240K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388																																					p.E240K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	12						.						159.0	149.0	152.0					12																	91502039		2203	4300	6503	90026170	SO:0001583	missense	4060	exon2			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.718G>A	12.37:g.91502039C>T	ENSP00000266718:p.Glu240Lys		90026170	NM_002345	B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	C	6.330	0.429002	0.11987	.	.	ENSG00000139329	ENST00000266718	T	0.56444	0.46	5.57	4.65	0.58169	.	0.103471	0.64402	D	0.000005	T	0.16214	0.0390	N	0.01003	-1.06	0.42346	D	0.992353	B	0.09022	0.002	B	0.09377	0.004	T	0.37641	-0.9697	10	0.02654	T	1	-31.9346	5.1455	0.14983	0.0:0.6323:0.188:0.1797	.	240	P51884	LUM_HUMAN	K	240	ENSP00000266718:E240K	ENSP00000266718:E240K	E	-	1	0	LUM	90026170	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	2.455000	0.44988	2.614000	0.88457	0.557000	0.71058	GAA		0.388	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
PLEKHG7	440107	broad.mit.edu	37	12	93157910	93157910	+	Missense_Mutation	SNP	G	G	A	rs375510513		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:93157910G>A	ENST00000344636.3	+	10	1058	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D292N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413																																					p.D292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G874A	12						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	222.0	213.0	216.0		874	4.9	0.8	12		216	0,8600		0,0,4300	no	missense	PLEKHG7	NM_001004330.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	292/380	93157910	1,13005	2203	4300	6503	91682041	SO:0001583	missense	440107	exon10			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.874G>A	12.37:g.93157910G>A	ENSP00000344961:p.Asp292Asn		91682041	NM_001004330	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657141	0.29425	2.27E-4	0.0	ENSG00000187510	ENST00000344636	T	0.63255	-0.03	5.82	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.138800	0.64402	D	0.000005	T	0.60919	0.2306	M	0.63428	1.95	0.44771	D	0.997777	D	0.60160	0.987	B	0.43155	0.41	T	0.66081	-0.6012	10	0.56958	D	0.05	-6.5921	13.2984	0.60311	0.0732:0.0:0.9268:0.0	.	292	Q6ZR37	PKHG7_HUMAN	N	292	ENSP00000344961:D292N	ENSP00000344961:D292N	D	+	1	0	PLEKHG7	91682041	1.000000	0.71417	0.812000	0.32479	0.130000	0.20726	5.113000	0.64640	1.466000	0.48025	0.650000	0.86243	GAT		0.413	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330	
EEA1	8411	broad.mit.edu	37	12	93213196	93213196	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:93213196A>G	ENST00000322349.8	-	14	1880	c.1616T>C	c.(1615-1617)aTt>aCt	p.I539T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	539	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.I539T(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TAGTAATGAAATATTTTCTTT	0.338																																					p.I539T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1616C	12						.						59.0	59.0	59.0					12																	93213196		2202	4296	6498	91737327	SO:0001583	missense	8411	exon14			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1616T>C	12.37:g.93213196A>G	ENSP00000317955:p.Ile539Thr		91737327	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.511871	0.44660	.	.	ENSG00000102189	ENST00000322349	T	0.78707	-1.2	5.55	3.2	0.36748	.	0.237591	0.28946	N	0.013633	T	0.61426	0.2346	L	0.27053	0.805	0.35167	D	0.771209	B	0.06786	0.001	B	0.04013	0.001	T	0.55829	-0.8079	10	0.14252	T	0.57	.	9.6148	0.39685	0.858:0.0:0.142:0.0	.	539	Q15075	EEA1_HUMAN	T	539	ENSP00000317955:I539T	ENSP00000317955:I539T	I	-	2	0	EEA1	91737327	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.284000	0.72652	0.411000	0.25702	0.377000	0.23210	ATT		0.338	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
EEA1	8411	broad.mit.edu	37	12	93226457	93226457	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:93226457C>A	ENST00000322349.8	-	11	1349	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	362					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R362I(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TACATGTATTCTATGCAGTGA	0.388																																					p.R362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085T	12						.						149.0	140.0	143.0					12																	93226457		2203	4300	6503	91750588	SO:0001583	missense	8411	exon11			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1085G>T	12.37:g.93226457C>A	ENSP00000317955:p.Arg362Ile		91750588	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526100	0.44969	.	.	ENSG00000102189	ENST00000322349	T	0.66815	-0.23	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000017	T	0.72795	0.3505	L	0.29908	0.895	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.74275	-0.3718	10	0.54805	T	0.06	.	14.9913	0.71390	0.0:0.8579:0.1421:0.0	.	362	Q15075	EEA1_HUMAN	I	362	ENSP00000317955:R362I	ENSP00000317955:R362I	R	-	2	0	EEA1	91750588	0.998000	0.40836	0.947000	0.38551	0.028000	0.11728	3.804000	0.55568	2.577000	0.86979	0.655000	0.94253	AGA		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
SOCS2	8835	broad.mit.edu	37	12	93968937	93968937	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:93968937A>C	ENST00000340600.2	+	3	1177	c.579A>C	c.(577-579)gaA>gaC	p.E193D	SOCS2_ENST00000536696.2_Missense_Mutation_p.E193D|SOCS2_ENST00000549122.1_Missense_Mutation_p.E193D|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Missense_Mutation_p.E193D|SOCS2_ENST00000549206.1_Missense_Mutation_p.E193D	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	193	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.E193D(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						ACTTGGAAGAATATAAATTCC	0.393																																					p.E193D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A579C	12						.						40.0	38.0	39.0					12																	93968937		2203	4300	6503	92493068	SO:0001583	missense	8835	exon3			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.579A>C	12.37:g.93968937A>C	ENSP00000339428:p.Glu193Asp		92493068	NM_003877	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	A	7.889	0.731836	0.15507	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000549122;ENST00000551556	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.84	-0.588	0.11687	SOCS protein, C-terminal (4);	0.142496	0.64402	D	0.000007	T	0.18130	0.0435	N	0.21097	0.63	0.43304	D	0.995302	B	0.06786	0.001	B	0.08055	0.003	T	0.07233	-1.0783	10	0.33141	T	0.24	-2.0415	11.3885	0.49800	0.5843:0.0:0.4157:0.0	.	193	O14508	SOCS2_HUMAN	D	193;193;193;141;193;193	ENSP00000339428:E193D;ENSP00000448815:E193D;ENSP00000442898:E193D;ENSP00000447161:E193D;ENSP00000449227:E193D	ENSP00000339428:E193D	E	+	3	2	SOCS2	92493068	0.796000	0.28864	0.992000	0.48379	0.984000	0.73092	-0.031000	0.12287	-0.328000	0.08539	-0.899000	0.02877	GAA		0.393	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
CRADD	8738	broad.mit.edu	37	12	94072802	94072802	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94072802G>A	ENST00000542893.2	+	2	570	c.252G>A	c.(250-252)gaG>gaA	p.E84E	CRADD_ENST00000552983.1_Silent_p.E84E|CRADD_ENST00000541813.1_Silent_p.E84E|CRADD_ENST00000332896.3_Silent_p.E84E|CRADD_ENST00000552033.1_Silent_p.E84E|CRADD_ENST00000548483.1_Silent_p.E84E			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)	p.E84E(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGGTCAGGGAGAAGCTGAAGA	0.502																																					p.E84E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	12						.						60.0	62.0	61.0					12																	94072802		2203	4300	6503	92596933	SO:0001819	synonymous_variant	8738	exon2			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.252G>A	12.37:g.94072802G>A			92596933	NM_003805	B7Z2Q5	Silent	SNP	ENST00000542893.2	37	CCDS9048.1																																																																																				0.502	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805	
PLXNC1	10154	broad.mit.edu	37	12	94580195	94580195	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94580195C>T	ENST00000258526.4	+	4	1634	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	462					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S462L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATCCTGTTCGGAGTGTTTA	0.418																																					p.S462L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1385T	12						.						133.0	116.0	122.0					12																	94580195		2203	4300	6503	93104326	SO:0001583	missense	10154	exon4			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1385C>T	12.37:g.94580195C>T	ENSP00000258526:p.Ser462Leu		93104326	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423077	0.25639	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.20463	2.07;2.07	5.51	-3.88	0.04205	.	1.955300	0.02302	N	0.071282	T	0.14184	0.0343	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15752	-1.0426	10	0.33940	T	0.23	.	1.7802	0.03030	0.18:0.2594:0.1096:0.4509	.	462	O60486	PLXC1_HUMAN	L	462;78	ENSP00000258526:S462L;ENSP00000447843:S78L	ENSP00000258526:S462L	S	+	2	0	PLXNC1	93104326	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-0.497000	0.06428	-0.789000	0.04498	0.561000	0.74099	TCG		0.418	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLXNC1	10154	broad.mit.edu	37	12	94673260	94673260	+	Missense_Mutation	SNP	G	G	A	rs139894368		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94673260G>A	ENST00000258526.4	+	22	3859	c.3610G>A	c.(3610-3612)Gtc>Atc	p.V1204I	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V251I|RP11-1105G2.3_ENST00000547927.1_5'Flank|RP11-1105G2.4_ENST00000550111.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1204					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V1204I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTAAACGTCGTCTTTGAAAA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15569	0.0		0.0	False		,,,				2504	0.0				p.V1204I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3610A	12						.	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		3610	1.6	1.0	12	dbSNP_134	79	0,8600		0,0,4300	no	missense	PLXNC1	NM_005761.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1204/1569	94673260	1,13005	2203	4300	6503	93197391	SO:0001583	missense	10154	exon22			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3610G>A	12.37:g.94673260G>A	ENSP00000258526:p.Val1204Ile		93197391	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579105	0.28180	2.27E-4	0.0	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.10860	2.83;2.83	5.81	1.63	0.23807	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.592975	0.14030	N	0.346224	T	0.05686	0.0149	N	0.13140	0.3	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.37753	-0.9692	10	0.12430	T	0.62	.	9.1544	0.36983	0.4301:0.0:0.5699:0.0	.	251;1204	B4DHQ7;O60486	.;PLXC1_HUMAN	I	1204;251	ENSP00000258526:V1204I;ENSP00000446720:V251I	ENSP00000258526:V1204I	V	+	1	0	PLXNC1	93197391	0.125000	0.22332	0.996000	0.52242	0.900000	0.52787	0.089000	0.15002	0.020000	0.15106	-0.126000	0.14955	GTC		0.403	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
PLXNC1	10154	broad.mit.edu	37	12	94688288	94688288	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94688288C>A	ENST00000258526.4	+	24	4155	c.3906C>A	c.(3904-3906)gtC>gtA	p.V1302V	PLXNC1_ENST00000545312.1_Silent_p.V41V|PLXNC1_ENST00000547057.1_Silent_p.V349V	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1302					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V1302V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTATAAAAGTCTTTAAGAAGA	0.313																																					p.V1302V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3906A	12						.						35.0	38.0	37.0					12																	94688288		2194	4295	6489	93212419	SO:0001819	synonymous_variant	10154	exon24			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3906C>A	12.37:g.94688288C>A			93212419	NM_005761	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.313	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
CEP83	51134	broad.mit.edu	37	12	94761717	94761717	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94761717A>G	ENST00000397809.5	-	11	1745	c.1196T>C	c.(1195-1197)tTa>tCa	p.L399S	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Missense_Mutation_p.L366S|CCDC41_ENST00000339839.5_Missense_Mutation_p.L399S	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		391					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.L399S(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTCGAGTTCTAACCTAAAACA	0.338																																					p.L399S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1196C	12						.						122.0	107.0	111.0					12																	94761717		1838	4087	5925	93285848	SO:0001583	missense	51134	exon11																														ENST00000397809.5:c.1196T>C	12.37:g.94761717A>G	ENSP00000380911:p.Leu399Ser		93285848	NM_016122	A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194625	0.78902	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.57273	0.56;0.56;0.41	5.83	5.83	0.93111	.	.	.	.	.	T	0.63486	0.2515	L	0.53249	1.67	0.44562	D	0.997524	D;D	0.59767	0.986;0.966	D;P	0.63957	0.92;0.836	T	0.58216	-0.7675	9	0.09590	T	0.72	-2.3285	16.2127	0.82178	1.0:0.0:0.0:0.0	.	366;391	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	S	399;399;366	ENSP00000344655:L399S;ENSP00000380911:L399S;ENSP00000380909:L366S	ENSP00000344655:L399S	L	-	2	0	CCDC41	93285848	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.429000	0.80309	2.236000	0.73375	0.533000	0.62120	TTA		0.338	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
CEP83	51134	broad.mit.edu	37	12	94805517	94805517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94805517C>A	ENST00000397809.5	-	4	829	c.280G>T	c.(280-282)Gaa>Taa	p.E94*	CCDC41_ENST00000397807.2_Nonsense_Mutation_p.E61*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.E94*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.E94*	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		86					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.E94*(2)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCTACTAATTCTCCTCTTAGT	0.338																																					p.E94X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G280T	12						.						107.0	99.0	102.0					12																	94805517		1804	4059	5863	93329648	SO:0001587	stop_gained	51134	exon4																														ENST00000397809.5:c.280G>T	12.37:g.94805517C>A	ENSP00000380911:p.Glu94*		93329648	NM_016122	A4FVB1|Q08AP1	Nonsense_Mutation	SNP	ENST00000397809.5	37	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	38	6.885434	0.97908	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	.	.	.	4.88	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.964	14.4521	0.67392	0.0:0.7204:0.2795:0.0	.	.	.	.	X	94;94;61;94	.	ENSP00000344655:E94X	E	-	1	0	CCDC41	93329648	0.997000	0.39634	0.827000	0.32855	0.294000	0.27393	3.669000	0.54561	1.137000	0.42214	0.655000	0.94253	GAA		0.338	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3		
TMCC3	57458	broad.mit.edu	37	12	94972183	94972183	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:94972183G>A	ENST00000261226.4	-	3	1249	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	TMCC3_ENST00000551457.1_Missense_Mutation_p.S342L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	373						integral component of membrane (GO:0016021)		p.S373L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GATGTCCCGCGAGCGCTCGTA	0.537																																					p.S373L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1118T	12						.						95.0	88.0	90.0					12																	94972183		2203	4300	6503	93496314	SO:0001583	missense	57458	exon3			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1118C>T	12.37:g.94972183G>A	ENSP00000261226:p.Ser373Leu		93496314	NM_020698	Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806299	0.31961	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.39787	1.06;1.06	5.7	5.7	0.88788	.	0.160465	0.56097	D	0.000028	T	0.25494	0.0620	N	0.12569	0.235	0.58432	D	0.999999	P	0.37176	0.586	B	0.35655	0.207	T	0.10989	-1.0606	10	0.02654	T	1	-5.3234	19.8333	0.96644	0.0:0.0:1.0:0.0	.	373	Q9ULS5	TMCC3_HUMAN	L	373;342	ENSP00000261226:S373L;ENSP00000449888:S342L	ENSP00000261226:S373L	S	-	2	0	TMCC3	93496314	1.000000	0.71417	0.488000	0.27440	0.188000	0.23474	9.869000	0.99810	2.698000	0.92095	0.491000	0.48974	TCG		0.537	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698	
NR2C1	7181	broad.mit.edu	37	12	95434360	95434360	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95434360G>A	ENST00000333003.5	-	10	1475	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	NR2C1_ENST00000330677.7_Missense_Mutation_p.S382F|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.S382F	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	382					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S382F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGGCATAGGAGAAGGCATGGT	0.398																																					p.S382F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1145T	12						.						131.0	113.0	119.0					12																	95434360		2203	4300	6503	93958491	SO:0001583	missense	7181	exon10			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1145C>T	12.37:g.95434360G>A	ENSP00000333275:p.Ser382Phe		93958491	NM_001127362	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201277	0.58234	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.96830	-4.14;-4.14;-4.14	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.171825	0.53938	D	0.000049	D	0.98131	0.9383	M	0.79475	2.455	0.49798	D	0.999822	D;D;D;D	0.71674	0.998;0.994;0.995;0.995	D;P;P;P	0.78314	0.991;0.83;0.893;0.861	D	0.97781	1.0232	10	0.51188	T	0.08	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	382;382;382;382	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	F	382	ENSP00000333275:S382F;ENSP00000376813:S382F;ENSP00000328843:S382F	ENSP00000328843:S382F	S	-	2	0	NR2C1	93958491	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.782000	0.62396	2.882000	0.98803	0.655000	0.94253	TCT		0.398	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
NR2C1	7181	broad.mit.edu	37	12	95442870	95442870	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95442870G>A	ENST00000333003.5	-	9	1435	c.1105C>T	c.(1105-1107)Ctc>Ttc	p.L369F	NR2C1_ENST00000330677.7_Missense_Mutation_p.L369F|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.L369F	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	369					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L369F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GAATCGCTGAGAAGTGGCCCC	0.403																																					p.L369F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1105T	12						.						140.0	123.0	129.0					12																	95442870		2203	4300	6503	93967001	SO:0001583	missense	7181	exon9			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1105C>T	12.37:g.95442870G>A	ENSP00000333275:p.Leu369Phe		93967001	NM_001127362	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062323	0.93898	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92805	-3.11;-2.91;-2.89	6.05	6.05	0.98169	Nuclear hormone receptor, ligand-binding (1);	0.184650	0.50627	D	0.000119	D	0.96200	0.8761	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.981	D;D;D;P	0.83275	0.994;0.996;0.985;0.832	D	0.95733	0.8776	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	369;369;369;369	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	F	369	ENSP00000333275:L369F;ENSP00000376813:L369F;ENSP00000328843:L369F	ENSP00000328843:L369F	L	-	1	0	NR2C1	93967001	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.875000	0.87205	2.878000	0.98634	0.650000	0.86243	CTC		0.403	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
FGD6	55785	broad.mit.edu	37	12	95488460	95488460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95488460C>A	ENST00000343958.4	-	15	3731	c.3508G>T	c.(3508-3510)Gaa>Taa	p.E1170*	FGD6_ENST00000546711.1_Nonsense_Mutation_p.E1170*|FGD6_ENST00000549499.1_Nonsense_Mutation_p.E1170*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1170	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E1170*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCATCCCTTTCTGTGGCAGAA	0.423																																					p.E1170X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3508T	12						.						143.0	137.0	139.0					12																	95488460		2203	4300	6503	94012591	SO:0001587	stop_gained	55785	exon15			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3508G>T	12.37:g.95488460C>A	ENSP00000344446:p.Glu1170*		94012591	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654532	0.96724	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	.	.	.	6.04	6.04	0.98038	.	0.000000	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9704	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	1170;1170;166;1170	.	ENSP00000344446:E1170X	E	-	1	0	FGD6	94012591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.226000	0.78060	2.873000	0.98535	0.561000	0.74099	GAA		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
FGD6	55785	broad.mit.edu	37	12	95602980	95602980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95602980C>A	ENST00000343958.4	-	2	2303	c.2080G>T	c.(2080-2082)Gaa>Taa	p.E694*	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E694*|FGD6_ENST00000549499.1_Nonsense_Mutation_p.E694*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	694					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E694*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTATAGTTTTCTGTGGAATAT	0.488																																					p.E694X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2080T	12						.						141.0	153.0	149.0					12																	95602980		2203	4300	6503	94127111	SO:0001587	stop_gained	55785	exon2			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2080G>T	12.37:g.95602980C>A	ENSP00000344446:p.Glu694*		94127111	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	38	6.932626	0.97944	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	6.04	6.04	0.98038	.	0.395855	0.21714	N	0.070234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.9575	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	694	.	ENSP00000344446:E694X	E	-	1	0	FGD6	94127111	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	5.359000	0.66074	2.873000	0.98535	0.561000	0.74099	GAA		0.488	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
FGD6	55785	broad.mit.edu	37	12	95603586	95603586	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95603586G>T	ENST00000343958.4	-	2	1697	c.1474C>A	c.(1474-1476)Cta>Ata	p.L492I	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.L492I|FGD6_ENST00000549499.1_Missense_Mutation_p.L492I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	492					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L492I(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACAATTCGTAGAGAATTTTCC	0.413																																					p.L492I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474A	12						.						68.0	74.0	72.0					12																	95603586		2203	4300	6503	94127717	SO:0001583	missense	55785	exon2			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1474C>A	12.37:g.95603586G>T	ENSP00000344446:p.Leu492Ile		94127717	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200268	0.01581	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.66815	-0.13;-0.23;-0.15	6.04	2.28	0.28536	.	1.166620	0.06515	N	0.738640	T	0.38904	0.1058	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27971	-1.0058	10	0.26408	T	0.33	-0.5237	2.6243	0.04925	0.4119:0.0:0.3564:0.2317	.	492	Q6ZV73	FGD6_HUMAN	I	492	ENSP00000344446:L492I;ENSP00000450342:L492I;ENSP00000449005:L492I	ENSP00000344446:L492I	L	-	1	2	FGD6	94127717	0.985000	0.35326	0.484000	0.27391	0.331000	0.28603	1.951000	0.40333	1.125000	0.41998	-0.367000	0.07326	CTA		0.413	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
FGD6	55785	broad.mit.edu	37	12	95604098	95604098	+	Missense_Mutation	SNP	C	C	T	rs148149725		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95604098C>T	ENST00000343958.4	-	2	1185	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.R321Q|FGD6_ENST00000549499.1_Missense_Mutation_p.R321Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	321					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R321Q(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACGAGCAGTTCGTGTCTTTCT	0.423																																					p.R321Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	12						.						113.0	117.0	116.0					12																	95604098		2203	4300	6503	94128229	SO:0001583	missense	55785	exon2			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.962G>A	12.37:g.95604098C>T	ENSP00000344446:p.Arg321Gln		94128229	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467774	0.26335	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70516	-0.38;-0.49;-0.43	5.29	1.34	0.21922	.	0.486350	0.17439	N	0.174198	T	0.57272	0.2042	L	0.48642	1.525	0.18873	N	0.999981	D	0.56746	0.977	B	0.41646	0.362	T	0.49707	-0.8911	10	0.33141	T	0.24	0.0201	6.121	0.20154	0.1317:0.6523:0.0:0.2159	.	321	Q6ZV73	FGD6_HUMAN	Q	321	ENSP00000344446:R321Q;ENSP00000450342:R321Q;ENSP00000449005:R321Q	ENSP00000344446:R321Q	R	-	2	0	FGD6	94128229	0.293000	0.24371	0.007000	0.13788	0.378000	0.30076	0.626000	0.24492	-0.027000	0.13873	-0.224000	0.12420	CGA		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
VEZT	55591	broad.mit.edu	37	12	95694139	95694139	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95694139C>A	ENST00000436874.1	+	12	2135	c.2030C>A	c.(2029-2031)tCt>tAt	p.S677Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.S629Y	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	677					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.S677Y(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AAAGATAATTCTTCAAATGAA	0.388																																					p.S677Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2030A	12						.						43.0	41.0	41.0					12																	95694139		1866	4097	5963	94218270	SO:0001583	missense	55591	exon12			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2030C>A	12.37:g.95694139C>A	ENSP00000410083:p.Ser677Tyr		94218270	NM_017599	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	C	2.086	-0.409649	0.04799	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.15952	2.38;2.38;2.38	6.02	4.16	0.48862	.	0.379957	0.30473	N	0.009549	T	0.16938	0.0407	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.18555	-1.0333	10	0.59425	D	0.04	-42.1416	8.3762	0.32445	0.1196:0.7019:0.1153:0.0632	.	677	Q9HBM0	VEZA_HUMAN	Y	677;629;633;677	ENSP00000410083:S677Y;ENSP00000261219:S629Y;ENSP00000380894:S633Y	ENSP00000261219:S629Y	S	+	2	0	VEZT	94218270	0.001000	0.12720	0.008000	0.14137	0.030000	0.12068	1.237000	0.32695	0.827000	0.34685	0.650000	0.86243	TCT		0.388	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599	
METAP2	10988	broad.mit.edu	37	12	95869931	95869931	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95869931A>C	ENST00000323666.5	+	2	465	c.236A>C	c.(235-237)aAa>aCa	p.K79T	METAP2_ENST00000550777.1_Intron|METAP2_ENST00000546753.1_Missense_Mutation_p.K79T|METAP2_ENST00000261220.9_Missense_Mutation_p.K78T|METAP2_ENST00000551840.1_Missense_Mutation_p.K78T	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2									p.K79T(1)		endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TTGGAAGATAAAGAAAGAGAT	0.403																																					p.K79T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A236C	12						.						134.0	126.0	129.0					12																	95869931		2203	4300	6503	94394062	SO:0001583	missense	10988	exon2			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.236A>C	12.37:g.95869931A>C	ENSP00000325312:p.Lys79Thr		94394062	NM_006838		Missense_Mutation	SNP	ENST00000323666.5	37	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866221	0.51588	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000551840	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	N	0.08118	0	0.50813	D	0.999896	P;D;D;D	0.56968	0.759;0.978;0.978;0.963	B;P;P;P	0.59115	0.143;0.852;0.852;0.715	T	0.50268	-0.8848	9	0.29301	T	0.29	-4.0048	14.1236	0.65205	1.0:0.0:0.0:0.0	.	79;78;78;79	B4DUX5;G3XA91;F8VQZ7;P50579	.;.;.;AMPM2_HUMAN	T	79;79;78;79;55;78	.	ENSP00000261220:K78T	K	+	2	0	METAP2	94394062	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.703000	0.54808	1.973000	0.57446	0.528000	0.53228	AAA		0.403	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838	
USP44	84101	broad.mit.edu	37	12	95927737	95927737	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:95927737C>T	ENST00000258499.3	-	2	584	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	USP44_ENST00000537435.2_Missense_Mutation_p.R99Q|USP44_ENST00000393091.2_Missense_Mutation_p.R99Q|USP44_ENST00000552440.1_Missense_Mutation_p.R99Q	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	99					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R99Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TAATGTACGTCGTAGTAACTT	0.388																																					p.R99Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G296A	12						.						166.0	140.0	149.0					12																	95927737		2203	4300	6503	94451868	SO:0001583	missense	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.296G>A	12.37:g.95927737C>T	ENSP00000258499:p.Arg99Gln		94451868	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492395	0.84962	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837;ENST00000549639	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.12	5.12	0.69794	Zinc finger, RING/FYVE/PHD-type (1);	0.119106	0.64402	D	0.000014	T	0.57095	0.2030	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.56848	-0.7911	10	0.44086	T	0.13	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	99	Q9H0E7	UBP44_HUMAN	Q	99	ENSP00000258499:R99Q;ENSP00000376806:R99Q;ENSP00000448670:R99Q;ENSP00000442629:R99Q;ENSP00000448601:R99Q;ENSP00000449635:R99Q	ENSP00000258499:R99Q	R	-	2	0	USP44	94451868	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	7.445000	0.80570	2.536000	0.85505	0.561000	0.74099	CGA		0.388	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
NTN4	59277	broad.mit.edu	37	12	96104370	96104370	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:96104370G>A	ENST00000343702.4	-	5	1477	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	NTN4_ENST00000552603.1_5'Flank|NTN4_ENST00000344911.4_Silent_p.F306F|NTN4_ENST00000553059.1_Silent_p.F343F|NTN4_ENST00000538383.1_Silent_p.F306F	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	343	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.F343F(1)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CATTAACGTCGAAGTGACAGG	0.453																																					p.F343F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1029T	12						.						149.0	107.0	121.0					12																	96104370		2203	4300	6503	94628501	SO:0001819	synonymous_variant	59277	exon5			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1029C>T	12.37:g.96104370G>A			94628501	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	ENST00000343702.4	37	CCDS9054.1																																																																																				0.453	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
NTN4	59277	broad.mit.edu	37	12	96181127	96181127	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:96181127C>T	ENST00000343702.4	-	2	623	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	NTN4_ENST00000344911.4_Missense_Mutation_p.E22K|NTN4_ENST00000553059.1_Missense_Mutation_p.E59K|NTN4_ENST00000538383.1_Missense_Mutation_p.E22K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	59	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)		p.E59K(2)		NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAGTACAGTTCGGTAGCATTC	0.537																																					p.E59K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G175A	12						.						101.0	80.0	87.0					12																	96181127		2203	4300	6503	94705258	SO:0001583	missense	59277	exon2			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.175G>A	12.37:g.96181127C>T	ENSP00000340998:p.Glu59Lys		94705258	NM_021229	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129331	0.94473	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.77	5.77	0.91146	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.94001	0.7275	10	0.62326	D	0.03	.	19.9883	0.97356	0.0:1.0:0.0:0.0	.	59;59	Q9HB63-2;Q9HB63	.;NET4_HUMAN	K	59;22;22;59;22	ENSP00000340998:E59K;ENSP00000339436:E22K;ENSP00000444432:E22K;ENSP00000447292:E59K;ENSP00000447594:E22K	ENSP00000340998:E59K	E	-	1	0	NTN4	94705258	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	7.294000	0.78760	2.722000	0.93159	0.555000	0.69702	GAA		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
HAL	3034	broad.mit.edu	37	12	96374440	96374440	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:96374440G>A	ENST00000261208.3	-	17	1781	c.1413C>T	c.(1411-1413)atC>atT	p.I471I	HAL_ENST00000538703.1_Silent_p.I471I|HAL_ENST00000541929.1_Silent_p.I263I	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	471					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.I471I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AGAGCCGCTCGATTCTTCTCT	0.522																																					p.I471I	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1413T	12						.						147.0	130.0	136.0					12																	96374440		2203	4300	6503	94898571	SO:0001819	synonymous_variant	3034	exon17				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1413C>T	12.37:g.96374440G>A			94898571	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	3.287	-0.145707	0.06627	.	.	ENSG00000084110	ENST00000548808	.	.	.	5.66	-2.15	0.07102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.4502	6.4683	0.21993	0.5434:0.0:0.2457:0.211	.	.	.	.	X	3	.	.	R	-	1	2	HAL	94898571	0.006000	0.16342	0.982000	0.44146	0.231000	0.25187	-0.914000	0.04038	-0.445000	0.07159	-0.140000	0.14226	CGA		0.522	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
HAL	3034	broad.mit.edu	37	12	96384285	96384285	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:96384285C>A	ENST00000261208.3	-	10	1109	c.741G>T	c.(739-741)gaG>gaT	p.E247D	HAL_ENST00000538703.1_Missense_Mutation_p.E247D|HAL_ENST00000551562.1_5'UTR|HAL_ENST00000541929.1_Missense_Mutation_p.E39D	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	247					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)	p.E247D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CGGTTCCTTTCTCTGGGACAT	0.552																																					p.E247D	NSCLC(169;943 2815 23563 30031)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G741T	12						.						124.0	109.0	114.0					12																	96384285		2203	4300	6503	94908416	SO:0001583	missense	3034	exon10				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.741G>T	12.37:g.96384285C>A	ENSP00000261208:p.Glu247Asp		94908416	NM_002108	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735235	0.89482	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703;ENST00000552509;ENST00000546579	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.44	4.55	0.56014	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87676	0.6237	M	0.84948	2.725	0.58432	D	0.999999	D;P	0.54772	0.968;0.955	P;D	0.63113	0.72;0.911	D	0.89115	0.3499	10	0.59425	D	0.04	-21.5762	14.0935	0.65006	0.0:0.9276:0.0:0.0724	.	247;247	F5GXF2;P42357	.;HUTH_HUMAN	D	247;39;247;235;157	ENSP00000261208:E247D;ENSP00000446364:E39D;ENSP00000440861:E247D;ENSP00000450372:E235D;ENSP00000447543:E157D	ENSP00000261208:E247D	E	-	3	2	HAL	94908416	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.005000	0.49521	1.314000	0.45095	0.555000	0.69702	GAG		0.552	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
NEDD1	121441	broad.mit.edu	37	12	97328953	97328953	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:97328953G>T	ENST00000266742.4	+	7	1028	c.689G>T	c.(688-690)aGa>aTa	p.R230I	NEDD1_ENST00000557644.1_Missense_Mutation_p.R237I|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000411739.2_Missense_Mutation_p.R141I|NEDD1_ENST00000429527.2_Missense_Mutation_p.R230I|NEDD1_ENST00000457368.2_Missense_Mutation_p.R141I	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	230					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.R230I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTGGATAAAAGAATCATCCTC	0.358																																					p.R230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689T	12						.						146.0	143.0	144.0					12																	97328953		2203	4300	6503	95853084	SO:0001583	missense	121441	exon7				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.689G>T	12.37:g.97328953G>T	ENSP00000266742:p.Arg230Ile		95853084	NM_152905	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178478	0.78564	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.71	3.88	0.44766	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.131325	0.64402	D	0.000001	T	0.49270	0.1547	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.941	T	0.40776	-0.9545	10	0.45353	T	0.12	.	12.1339	0.53959	0.1389:0.0:0.8611:0.0	.	237;230	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	I	230;230;141;141;237;141	ENSP00000266742:R230I;ENSP00000404978:R230I;ENSP00000411307:R141I;ENSP00000451830:R141I;ENSP00000451211:R237I;ENSP00000407964:R141I	ENSP00000266742:R230I	R	+	2	0	NEDD1	95853084	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.639000	0.61361	0.753000	0.32945	0.650000	0.86243	AGA		0.358	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
NEDD1	121441	broad.mit.edu	37	12	97339533	97339533	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:97339533G>A	ENST00000266742.4	+	14	2056	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	NEDD1_ENST00000557644.1_Missense_Mutation_p.D580N|NEDD1_ENST00000411739.2_Missense_Mutation_p.D484N|NEDD1_ENST00000429527.2_Missense_Mutation_p.D573N|NEDD1_ENST00000457368.2_Missense_Mutation_p.D484N	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	573					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.D573N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						AAAAATAGCCGACAGCATTGG	0.358																																					p.D573N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1717A	12						.						101.0	94.0	96.0					12																	97339533		2203	4300	6503	95863664	SO:0001583	missense	121441	exon14				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1717G>A	12.37:g.97339533G>A	ENSP00000266742:p.Asp573Asn		95863664	NM_152905	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609787	0.66558	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.50548	0.74;0.74;1.58;0.74;1.58	5.87	4.99	0.66335	.	0.144183	0.64402	D	0.000008	T	0.63070	0.2480	L	0.56769	1.78	0.40167	D	0.977137	D;D	0.76494	0.999;0.998	D;P	0.63703	0.917;0.75	T	0.68017	-0.5520	10	0.72032	D	0.01	.	14.9712	0.71235	0.0681:0.0:0.9319:0.0	.	580;573	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	N	573;573;484;580;484	ENSP00000266742:D573N;ENSP00000404978:D573N;ENSP00000411307:D484N;ENSP00000451211:D580N;ENSP00000407964:D484N	ENSP00000266742:D573N	D	+	1	0	NEDD1	95863664	1.000000	0.71417	0.817000	0.32601	0.378000	0.30076	5.806000	0.69150	1.497000	0.48584	0.655000	0.94253	GAC		0.358	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
TMPO	7112	broad.mit.edu	37	12	98925613	98925613	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:98925613G>T	ENST00000556029.1	+	3	918	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	TMPO_ENST00000343315.5_Nonsense_Mutation_p.E188*|TMPO_ENST00000266732.4_Nonsense_Mutation_p.E188*|TMPO_ENST00000393053.2_Nonsense_Mutation_p.E188*|TMPO_ENST00000261210.5_Nonsense_Mutation_p.E188*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	188	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.E188*(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGACAATGAAGAAGGTAAAAT	0.308																																					p.E188X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G562T	12						.						49.0	52.0	51.0					12																	98925613		2203	4300	6503	97449744	SO:0001587	stop_gained	7112	exon3				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.562G>T	12.37:g.98925613G>T	ENSP00000450627:p.Glu188*		97449744	NM_001032283	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.227727	0.97394	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	.	.	.	5.4	5.4	0.78164	.	0.047126	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	.	.	.	X	188;188;188;188;188;95	.	ENSP00000261210:E188X	E	+	1	0	TMPO	97449744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.275000	0.89892	2.523000	0.85059	0.655000	0.94253	GAA		0.308	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
TMPO	7112	broad.mit.edu	37	12	98927458	98927458	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:98927458G>T	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Nonsense_Mutation_p.E475*|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388																																					p.E475X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1423T	12						.						139.0	120.0	126.0					12																	98927458		2203	4300	6503	97451589	SO:0001627	intron_variant	7112	exon4				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1842G>T	12.37:g.98927458G>T			97451589	NM_003276	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259473	0.80246	.	.	ENSG00000120802	ENST00000266732	.	.	.	5.65	5.65	0.86999	.	0.215070	0.39274	N	0.001413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.9242	15.5961	0.76583	0.0:0.0:1.0:0.0	.	.	.	.	X	475	.	ENSP00000266732:E475X	E	+	1	0	TMPO	97451589	1.000000	0.71417	0.979000	0.43373	0.082000	0.17680	4.431000	0.59915	2.827000	0.97445	0.650000	0.86243	GAA		0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
TMPO	7112	broad.mit.edu	37	12	98940155	98940155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:98940155G>T	ENST00000556029.1	+	8	1365	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Nonsense_Mutation_p.E297*|TMPO_ENST00000393053.2_Nonsense_Mutation_p.E228*	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	337	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.E337*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAAACAGAGGAAAGAAGAGT	0.308																																					p.E337X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1009T	12						.						128.0	128.0	128.0					12																	98940155		2203	4299	6502	97464286	SO:0001587	stop_gained	7112	exon8				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1009G>T	12.37:g.98940155G>T	ENSP00000450627:p.Glu337*		97464286	NM_001032283	A2T926|Q14861	Nonsense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	38	7.139340	0.98088	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053;ENST00000556678	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.5665	0.95395	0.0:0.0:1.0:0.0	.	.	.	.	X	337;297;228;172	.	ENSP00000340251:E337X	E	+	1	0	TMPO	97464286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.894000	0.75655	2.699000	0.92147	0.655000	0.94253	GAA		0.308	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
SLC25A3	5250	broad.mit.edu	37	12	98995180	98995180	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:98995180G>T	ENST00000228318.3	+	8	1083	c.963G>T	c.(961-963)atG>atT	p.M321I	SLC25A3_ENST00000552981.1_Missense_Mutation_p.M320I|SLC25A3_ENST00000401722.3_Missense_Mutation_p.M320I|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000549338.1_Missense_Mutation_p.M320I|SLC25A3_ENST00000188376.5_Missense_Mutation_p.M320I|SLC25A3_ENST00000551917.1_Missense_Mutation_p.M321I|SLC25A3_ENST00000548847.1_Missense_Mutation_p.M283I	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	321					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.M321I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GTATCATCATGATTGGTACCC	0.448																																					p.M320I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G960T	12						.						172.0	164.0	167.0					12																	98995180		2203	4300	6503	97519311	SO:0001583	missense	5250	exon8				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.963G>T	12.37:g.98995180G>T	ENSP00000228318:p.Met321Ile		97519311	NM_002635	B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840001	0.91117	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.93507	3.425	0.80722	D	1	D;D;D;D	0.65815	0.995;0.984;0.978;0.991	D;D;D;D	0.71184	0.972;0.937;0.948;0.948	T	0.73408	-0.3992	10	0.87932	D	0	-33.2784	19.7153	0.96115	0.0:0.0:1.0:0.0	.	283;320;321;320	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	I	320;320;321;321;320;320;283	ENSP00000383898:M320I;ENSP00000188376:M320I;ENSP00000228318:M321I;ENSP00000447310:M321I;ENSP00000448708:M320I;ENSP00000447740:M320I;ENSP00000449166:M283I	ENSP00000188376:M320I	M	+	3	0	SLC25A3	97519311	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.173000	0.94815	2.731000	0.93534	0.655000	0.94253	ATG		0.448	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888	
IKBIP	121457	broad.mit.edu	37	12	99007832	99007832	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:99007832G>T	ENST00000342502.2	-	3	995	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.S89Y	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	195					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S195Y(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCTTGCACAGAATCTGTCAA	0.328																																					p.S195Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584A	12						.						57.0	54.0	55.0					12																	99007832		2203	4298	6501	97531963	SO:0001583	missense	121457	exon3			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.584C>A	12.37:g.99007832G>T	ENSP00000343471:p.Ser195Tyr		97531963	NM_201612	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089229	0.55968	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.49720	0.83;0.77	5.48	5.48	0.80851	.	.	.	.	.	T	0.62146	0.2404	L	0.56769	1.78	0.27665	N	0.946945	D	0.56968	0.978	P	0.58873	0.847	T	0.58278	-0.7664	9	0.72032	D	0.01	.	15.0204	0.71627	0.0:0.0:0.8571:0.1429	.	195	Q70UQ0	IKIP_HUMAN	Y	195;89	ENSP00000343471:S195Y;ENSP00000398023:S89Y	ENSP00000343471:S195Y	S	-	2	0	IKBIP	97531963	1.000000	0.71417	0.997000	0.53966	0.707000	0.40811	4.466000	0.60148	2.577000	0.86979	0.655000	0.94253	TCT		0.328	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687	
ANKS1B	56899	broad.mit.edu	37	12	99145259	99145259	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:99145259G>A	ENST00000547776.2	-	25	3545	c.3546C>T	c.(3544-3546)ttC>ttT	p.F1182F	ANKS1B_ENST00000550693.2_Silent_p.F372F|ANKS1B_ENST00000547446.1_Silent_p.F317F|ANKS1B_ENST00000549493.2_Silent_p.F432F|ANKS1B_ENST00000329257.7_Silent_p.F1182F|ANKS1B_ENST00000549025.2_Silent_p.F280F|ANKS1B_ENST00000341752.7_Silent_p.F188F|ANKS1B_ENST00000546960.1_Silent_p.F408F|ANKS1B_ENST00000547010.1_Silent_p.F698F|ANKS1B_ENST00000333732.7_Silent_p.F212F|ANKS1B_ENST00000549558.2_Silent_p.F348F|ANKS1B_ENST00000546568.1_Silent_p.F348F|ANKS1B_ENST00000332712.7_Silent_p.F372F	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1182	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.F1182F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAGCGACTTCGAATGCCTGTC	0.458																																					p.F432F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1296T	12						.						169.0	169.0	169.0					12																	99145259		1902	4104	6006	97669390	SO:0001819	synonymous_variant	56899	exon12			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3546C>T	12.37:g.99145259G>A			97669390	NM_181670	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	9.276	1.047023	0.19827	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.08	-2.15	0.07102	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52548	-0.8561	4	.	.	.	-11.2089	10.1709	0.42908	0.6505:0.0:0.3495:0.0	.	.	.	.	L	454	.	.	S	-	2	0	ANKS1B	97669390	1.000000	0.71417	0.993000	0.49108	0.890000	0.51754	1.140000	0.31516	-0.252000	0.09528	-1.069000	0.02264	TCG		0.458	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
ANKS1B	56899	broad.mit.edu	37	12	100169438	100169438	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100169438C>T	ENST00000547776.2	-	7	848	c.849G>A	c.(847-849)gaG>gaA	p.E283E	ANKS1B_ENST00000329257.7_Splice_Site_p.E283E|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	283						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.E283E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTTCTAAATACTCTGTGTGTA	0.333																																					p.E283E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G849A	12						.						101.0	87.0	91.0					12																	100169438		1834	4077	5911	98693569	SO:0001630	splice_region_variant	56899	exon7			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.848-1G>A	12.37:g.100169438C>T			98693569	NM_152788	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	CCDS55872.1																																																																																				0.333	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	Silent
ACTR6	64431	broad.mit.edu	37	12	100603985	100603985	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100603985C>T	ENST00000188312.2	+	5	1279	c.514C>T	c.(514-516)Cgg>Tgg	p.R172W	ACTR6_ENST00000546902.1_Splice_Site_p.R90W|ACTR6_ENST00000552376.1_Splice_Site_p.R172W|ACTR6_ENST00000551617.1_Splice_Site_p.R90W	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	172						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R172W(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AGCAATTATTCGGTGAGTTGT	0.303																																					p.R172W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	12						.						102.0	108.0	106.0					12																	100603985		2203	4299	6502	99128116	SO:0001630	splice_region_variant	64431	exon5			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.515+1C>T	12.37:g.100603985C>T			99128116	NM_022496	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388786	0.61956	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64	4.82	1.84	0.25277	.	0.000000	0.85682	D	0.000000	D	0.97857	0.9296	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98278	1.0507	10	0.87932	D	0	.	14.3133	0.66432	0.5732:0.4268:0.0:0.0	.	90;172;172	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	W	184;172;90;172;90	ENSP00000448508:R184W;ENSP00000188312:R172W;ENSP00000448669:R90W;ENSP00000447237:R172W;ENSP00000448356:R90W	ENSP00000188312:R172W	R	+	1	2	ACTR6	99128116	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.957000	0.56730	0.270000	0.21984	-0.169000	0.13324	CGG		0.303	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496	Missense_Mutation
SCYL2	55681	broad.mit.edu	37	12	100676756	100676756	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100676756C>A	ENST00000360820.2	+	2	445	c.8C>A	c.(7-9)tCc>tAc	p.S3Y	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	3					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.S3Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCCATGGAGTCCATGCTTAAT	0.353																																					p.S3Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C8A	12						.						67.0	63.0	64.0					12																	100676756		2203	4300	6503	99200887	SO:0001583	missense	55681	exon2			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.8C>A	12.37:g.100676756C>A	ENSP00000354061:p.Ser3Tyr		99200887	NM_017988	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686795	0.68157	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.37235	1.71;1.21	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	N	0.08118	0	0.80722	D	1	B	0.26081	0.141	B	0.20767	0.031	T	0.10019	-1.0648	10	0.72032	D	0.01	.	19.0444	0.93013	0.0:1.0:0.0:0.0	.	3	Q6P3W7	SCYL2_HUMAN	Y	3	ENSP00000448366:S3Y;ENSP00000354061:S3Y	ENSP00000354061:S3Y	S	+	2	0	SCYL2	99200887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.551000	0.82182	2.490000	0.84030	0.591000	0.81541	TCC		0.353	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
SLC17A8	246213	broad.mit.edu	37	12	100797822	100797822	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100797822C>A	ENST00000323346.5	+	9	1373	c.1060C>A	c.(1060-1062)Ctc>Atc	p.L354I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L304I|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	354					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L354I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CCAGGTGGGTCTCTTGTCAGC	0.468																																					p.L354I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060A	12						.						110.0	111.0	111.0					12																	100797822		2203	4300	6503	99321953	SO:0001583	missense	246213	exon9			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1060C>A	12.37:g.100797822C>A	ENSP00000316909:p.Leu354Ile		99321953	NM_139319	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904165	0.33628	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.62639	0.01;0.01	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120420	0.56097	D	0.000021	T	0.45538	0.1347	N	0.16233	0.39	0.48632	D	0.999681	B;B	0.10296	0.002;0.003	B;B	0.17979	0.02;0.013	T	0.34428	-0.9829	10	0.23302	T	0.38	.	12.9643	0.58475	0.0:0.9262:0.0:0.0738	.	354;304	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	354;304	ENSP00000316909:L354I;ENSP00000376715:L304I	ENSP00000316909:L354I	L	+	1	0	SLC17A8	99321953	0.959000	0.32827	1.000000	0.80357	0.978000	0.69477	2.111000	0.41883	2.658000	0.90341	0.563000	0.77884	CTC		0.468	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
SLC17A8	246213	broad.mit.edu	37	12	100813904	100813904	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100813904G>T	ENST00000323346.5	+	12	2050	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q529H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	579					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Q579H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CATCCTACCAGAATGAAGAGA	0.438																																					p.Q579H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1737T	12						.						72.0	64.0	67.0					12																	100813904		2203	4300	6503	99338035	SO:0001583	missense	246213	exon12			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1737G>T	12.37:g.100813904G>T	ENSP00000316909:p.Gln579His		99338035	NM_139319	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819277	0.32145	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.69435	0.02;-0.4	4.8	3.9	0.45041	.	0.351400	0.30085	N	0.010446	T	0.48909	0.1526	N	0.22421	0.69	0.31073	N	0.712835	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.50684	-0.8799	10	0.41790	T	0.15	.	8.8587	0.35245	0.0822:0.0:0.7576:0.1602	.	579;529	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	H	579;529	ENSP00000316909:Q579H;ENSP00000376715:Q529H	ENSP00000316909:Q579H	Q	+	3	2	SLC17A8	99338035	0.997000	0.39634	0.992000	0.48379	0.912000	0.54170	0.412000	0.21131	2.388000	0.81334	0.591000	0.81541	CAG		0.438	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
NR1H4	9971	broad.mit.edu	37	12	100934588	100934588	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:100934588G>A	ENST00000551379.1	+	7	1128	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	NR1H4_ENST00000392986.3_Missense_Mutation_p.R357Q|NR1H4_ENST00000549996.1_Missense_Mutation_p.R306Q|NR1H4_ENST00000548884.1_Missense_Mutation_p.R353Q|NR1H4_ENST00000188403.7_Missense_Mutation_p.R363Q			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	367	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R353Q(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GAAAGAATTCGAAATAGTGGT	0.413																																					p.R353Q												NR1H4,lung,NS,Substitution - Missense,0	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1058A	12						.						105.0	103.0	104.0					12																	100934588		2203	4300	6503	99458719	SO:0001583	missense	9971	exon9			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1100G>A	12.37:g.100934588G>A	ENSP00000447149:p.Arg367Gln		99458719	NM_005123	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091893	0.76756	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09	5.05	4.15	0.48705	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055575	0.64402	D	0.000002	D	0.96892	0.8985	L	0.56340	1.77	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;0.972	P;P;P;P;B	0.62435	0.892;0.657;0.854;0.902;0.358	D	0.96490	0.9363	10	0.48119	T	0.1	.	15.4862	0.75569	0.0:0.1391:0.8609:0.0	.	306;367;363;357;353	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	Q	353;357;306;367;363	ENSP00000448506:R353Q;ENSP00000376712:R357Q;ENSP00000448978:R306Q;ENSP00000447149:R367Q;ENSP00000188403:R363Q	ENSP00000188403:R363Q	R	+	2	0	NR1H4	99458719	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.547000	0.82146	1.110000	0.41699	0.585000	0.79938	CGA		0.413	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
ZNF140	7699	broad.mit.edu	37	12	133682122	133682122	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:133682122G>T	ENST00000355557.2	+	5	1542	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF140_ENST00000440550.2_Intron|ZNF140_ENST00000544426.1_5'UTR|ZNF140_ENST00000319849.3_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D87Y(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAGATCAAAGACTTTTCACC	0.343																																					p.D87Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259T	12						.																																			132192195	SO:0001583	missense	7699	exon5			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.259G>T	12.37:g.133682122G>T	ENSP00000347755:p.Asp87Tyr		132192195	NM_003440	D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	ENST00000355557.2	37	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	G	3.003	-0.205629	0.06180	.	.	ENSG00000196387	ENST00000355557;ENST00000356456;ENST00000412146;ENST00000429434	T;T;T;T	0.05199	3.48;6.02;4.77;6.09	4.09	3.19	0.36642	.	1.410700	0.05197	N	0.504298	T	0.08802	0.0218	L	0.45352	1.415	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	10	0.62326	D	0.03	.	9.8224	0.40891	0.1039:0.0:0.8961:0.0	.	87	P52738	ZN140_HUMAN	Y	87;87;53;103	ENSP00000347755:D87Y;ENSP00000444905:D87Y;ENSP00000389566:D53Y;ENSP00000415499:D103Y	ENSP00000347755:D87Y	D	+	1	0	ZNF140	132192195	0.001000	0.12720	0.001000	0.08648	0.210000	0.24377	0.947000	0.29082	1.062000	0.40625	0.455000	0.32223	GAC		0.343	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	
OR4F15	390649	broad.mit.edu	37	15	102358483	102358483	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:102358483T>G	ENST00000332238.4	+	1	118	c.94T>G	c.(94-96)Ttg>Gtg	p.L32V		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTTTTCTCTTTGTTGTTCTA	0.423																																					p.L32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T94G	15						.						218.0	193.0	202.0					15																	102358483		2203	4300	6503	100176006	SO:0001583	missense	390649	exon1			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.94T>G	15.37:g.102358483T>G	ENSP00000333184:p.Leu32Val		100176006	NM_001001674	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	1.890	-0.455626	0.04540	.	.	ENSG00000182854	ENST00000332238	T	0.01902	4.57	5.24	1.44	0.22558	.	1.002720	0.08038	N	0.994635	T	0.03871	0.0109	M	0.81239	2.535	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.47824	-0.9087	9	.	.	.	.	1.3908	0.02250	0.3096:0.0838:0.1611:0.4455	.	32	Q8NGB8	O4F15_HUMAN	V	32	ENSP00000333184:L32V	.	L	+	1	2	OR4F15	100176006	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.530000	0.06179	0.064000	0.16427	0.528000	0.53228	TTG		0.423	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
POTEB2	100287399	broad.mit.edu	37	15	21040791	21040791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:21040791C>A	ENST00000454856.4	-	11	1596	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	MIR3118-4_ENST00000584700.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	522								p.E522*(1)									TTTACACTTTCAATTTCCTCC	0.343																																					p.E559X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1675T	15						.																																			19305343	SO:0001587	stop_gained	339010	exon11				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.1564G>T	15.37:g.21040791C>A	ENSP00000456953:p.Glu522*		19305343	NM_207355		Nonsense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.343	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21042613	21042613	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:21042613T>C	ENST00000454856.4	-	10	1414	c.1382A>G	c.(1381-1383)cAa>cGa	p.Q461R		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	461								p.Q461R(1)									TATCTGCTTTTGTTTATTAGT	0.294																																					p.Q498R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1493G	15						.																																			19307207	SO:0001583	missense	339010	exon10				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.1382A>G	15.37:g.21042613T>C	ENSP00000456953:p.Gln461Arg		19307207	NM_207355		Missense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.294	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21052384	21052384	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:21052384C>T	ENST00000454856.4	-	8	1153	c.1121G>A	c.(1120-1122)tGt>tAt	p.C374Y		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	374								p.C374Y(1)									CTCTCTATCACAGTCCTTATT	0.333																																					p.C411Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	15						.						1.0	1.0	1.0					15																	21052384		3	21	24	19316973	SO:0001583	missense	339010	exon8				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.1121G>A	15.37:g.21052384C>T	ENSP00000456953:p.Cys374Tyr		19316973	NM_207355		Missense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.333	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21063519	21063519	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:21063519C>T	ENST00000454856.4	-	4	759	c.727G>A	c.(727-729)Gta>Ata	p.V243I	RNU6-749P_ENST00000459351.1_RNA	NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	243								p.V243I(1)									TGTTCATGTACGCCAAGCAAA	0.299																																					p.V280I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	15						.						4.0	4.0	4.0					15																	21063519		863	1682	2545	19328107	SO:0001583	missense	339010	exon4				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.727G>A	15.37:g.21063519C>T	ENSP00000456953:p.Val243Ile		19328107	NM_207355		Missense_Mutation	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.299	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
POTEB2	100287399	broad.mit.edu	37	15	21066440	21066440	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:21066440G>T	ENST00000454856.4	-	3	662	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_001277303.1	NP_001264232.1	H3BUK9	POTB2_HUMAN	POTE ankyrin domain family, member B2	210								p.I210I(1)									CTTCATTGTAGATAGCATAGT	0.348																																					p.I247I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C741A	15						.																																			19331019	SO:0001819	synonymous_variant	339010	exon3				CCDS59248.1	15q11.2	2014-01-29			ENSG00000230031	ENSG00000230031		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	48327	protein-coding gene	gene with protein product							Standard	NM_001277303		Approved			H3BUK9	OTTHUMG00000185829	ENST00000454856.4:c.630C>A	15.37:g.21066440G>T			19331019	NM_207355		Silent	SNP	ENST00000454856.4	37	CCDS59248.1																																																																																				0.348	POTEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471435.1		
OR4M2	390538	broad.mit.edu	37	15	22368669	22368669	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22368669C>A	ENST00000332663.2	+	1	192	c.94C>A	c.(94-96)Cta>Ata	p.L32I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32I(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTATATTTCTATCCTTCTA	0.403																																					p.L32I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94A	15						.						317.0	283.0	294.0					15																	22368669		2203	4300	6503	19870033	SO:0001583	missense	390538	exon1			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.94C>A	15.37:g.22368669C>A	ENSP00000329467:p.Leu32Ile		19870033	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	11.75	1.732852	0.30684	.	.	ENSG00000182974	ENST00000332663	T	0.01854	4.6	2.5	-0.257	0.12979	.	0.000000	0.37095	N	0.002251	T	0.06600	0.0169	M	0.85373	2.75	0.24507	N	0.994228	P	0.51449	0.945	P	0.53102	0.718	T	0.12142	-1.0559	10	0.40728	T	0.16	-5.4749	5.7331	0.18051	0.0:0.5982:0.0:0.4018	.	32	Q8NGB6	OR4M2_HUMAN	I	32	ENSP00000329467:L32I	ENSP00000329467:L32I	L	+	1	2	OR4M2	19870033	0.000000	0.05858	0.988000	0.46212	0.548000	0.35241	-1.158000	0.03153	-0.187000	0.10516	-0.406000	0.06334	CTA		0.403	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4M2	390538	broad.mit.edu	37	15	22369079	22369079	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22369079C>T	ENST00000332663.2	+	1	602	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTTCCTTTCTGTGGGCCCA	0.493																																					p.F168F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C504T	15						.						310.0	256.0	274.0					15																	22369079		2203	4300	6503	19870443	SO:0001819	synonymous_variant	390538	exon1			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.504C>T	15.37:g.22369079C>T			19870443	NM_001004719	B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	CCDS32172.1																																																																																				0.493	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	C	A	rs376814938		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22383287C>A	ENST00000328795.4	+	1	906	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S272Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418																																					p.S272Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C815A	15						.	C	TYR/SER	1,4377		0,1,2188	197.0	176.0	183.0		815	3.2	1.0	15		183	0,8522		0,0,4261	no	missense	OR4N4	NM_001005241.2	144	0,1,6449	AA,AC,CC		0.0,0.0228,0.0078	probably-damaging	272/317	22383287	1,12899	2189	4261	6450	19884651	SO:0001583	missense	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.815C>A	15.37:g.22383287C>A	ENSP00000332500:p.Ser272Tyr		19884651	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.985	0.752023	0.15778	2.28E-4	0.0	ENSG00000183706	ENST00000328795	T	0.00274	8.35	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.153130	0.30979	N	0.008497	T	0.01029	0.0034	H	0.96633	3.855	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.11348	-1.0591	10	0.87932	D	0	-9.0549	12.2303	0.54484	0.0:1.0:0.0:0.0	.	272	Q8N0Y3	OR4N4_HUMAN	Y	272	ENSP00000332500:S272Y	ENSP00000332500:S272Y	S	+	2	0	OR4N4	19884651	0.000000	0.05858	0.997000	0.53966	0.038000	0.13279	0.779000	0.26746	1.784000	0.52394	0.404000	0.27445	TCT		0.418	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
TUBGCP5	114791	broad.mit.edu	37	15	22849045	22849045	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22849045C>A	ENST00000283645.4	+	10	1222	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.F364L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	364					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.F364L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACCAGGCTTTCATGTGGGCCC	0.408																																					p.F364L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1092A	15						.						76.0	77.0	77.0					15																	22849045		2203	4300	6503	20400486	SO:0001583	missense	114791	exon10			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1092C>A	15.37:g.22849045C>A	ENSP00000283645:p.Phe364Leu		20400486	NM_052903	E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	19.37	3.815163	0.70912	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.07216	3.21;3.21	5.42	3.52	0.40303	.	0.099785	0.64402	D	0.000001	T	0.19287	0.0463	M	0.61703	1.905	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02596	-1.1136	10	0.39692	T	0.17	-15.5123	3.8968	0.09143	0.1715:0.5571:0.0:0.2714	.	364;364	Q96RT8;E9PB12	GCP5_HUMAN;.	L	364	ENSP00000283645:F364L;ENSP00000409217:F364L	ENSP00000283645:F364L	F	+	3	2	TUBGCP5	20400486	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	2.139000	0.42149	0.762000	0.33152	-0.216000	0.12614	TTC		0.408	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
TUBGCP5	114791	broad.mit.edu	37	15	22868879	22868879	+	Silent	SNP	C	C	T	rs113414194		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22868879C>T	ENST00000283645.4	+	20	2881	c.2751C>T	c.(2749-2751)gtC>gtT	p.V917V	TUBGCP5_ENST00000453949.2_Silent_p.V917V	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	917					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.V917V(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AACATCAAGTCGAGGAAGCCA	0.418																																					p.V917V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2751T	15						.	C	,	1,4405	2.1+/-5.4	0,1,2202	110.0	102.0	105.0		2751,2751	-10.5	0.0	15	dbSNP_132	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TUBGCP5	NM_001102610.1,NM_052903.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	917/1025,917/1025	22868879	1,13005	2203	4300	6503	20420320	SO:0001819	synonymous_variant	114791	exon20			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2751C>T	15.37:g.22868879C>T			20420320	NM_052903	E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	CCDS10008.1																																																																																				0.418	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903	
CYFIP1	23191	broad.mit.edu	37	15	22963848	22963848	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:22963848G>A	ENST00000313077.7	+	21	2487	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E788K|CYFIP1_ENST00000435939.2_Missense_Mutation_p.E357K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.E788K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGACGATTTGAAAGTGAAGA	0.438																																					p.E788K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2362A	15						.						132.0	123.0	126.0					15																	22963848		2203	4300	6503	20515289	SO:0001583	missense	23191	exon21			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2362G>A	15.37:g.22963848G>A	ENSP00000324549:p.Glu788Lys		20515289	NM_014608		Missense_Mutation	SNP	ENST00000313077.7	37	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	37	6.056497	0.97241	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.26518	1.73;1.73	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.61652	0.2364	M	0.89904	3.07	0.80722	D	1	P;D;D	0.89917	0.822;1.0;0.992	B;D;D	0.79108	0.325;0.992;0.954	T	0.68754	-0.5325	10	0.87932	D	0	-26.7633	19.9036	0.96999	0.0:0.0:1.0:0.0	.	816;357;788	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	K	788;816;357	ENSP00000324549:E788K;ENSP00000405956:E357K	ENSP00000324549:E788K	E	+	1	0	CYFIP1	20515289	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.622000	0.98378	2.706000	0.92434	0.655000	0.94253	GAA		0.438	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	
MKRN3	7681	broad.mit.edu	37	15	23811120	23811120	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:23811120C>T	ENST00000314520.3	+	1	667	c.191C>T	c.(190-192)cCt>cTt	p.P64L	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Missense_Mutation_p.P64L|MKRN3_ENST00000564592.1_Missense_Mutation_p.P64L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	64					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P64L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCTCCAGTCCCTGCCCACCTC	0.667																																					p.P64L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C191T	15						.						30.0	31.0	31.0					15																	23811120		2203	4300	6503	21362213	SO:0001583	missense	7681	exon1			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.191C>T	15.37:g.23811120C>T	ENSP00000313881:p.Pro64Leu		21362213	NM_005664		Missense_Mutation	SNP	ENST00000314520.3	37	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	10.30	1.311632	0.23821	.	.	ENSG00000179455	ENST00000314520	T	0.33865	1.39	2.31	1.35	0.21983	.	0.754756	0.10815	U	0.631117	T	0.31888	0.0811	N	0.08118	0	0.09310	N	1	D;P	0.59357	0.985;0.601	P;B	0.61003	0.882;0.291	T	0.17440	-1.0369	10	0.56958	D	0.05	.	6.8181	0.23843	0.0:0.7064:0.2936:0.0	.	64;64	Q6NSB6;Q13064	.;MKRN3_HUMAN	L	64	ENSP00000313881:P64L	ENSP00000313881:P64L	P	+	2	0	MKRN3	21362213	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.017000	0.12590	0.509000	0.28195	-0.300000	0.09419	CCT		0.667	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
NDN	4692	broad.mit.edu	37	15	23931681	23931681	+	Silent	SNP	G	G	A	rs149718513		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:23931681G>A	ENST00000331837.4	-	1	769	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	228	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F228F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCACGTCCCCGAAGGTGGAGT	0.602									Prader-Willi syndrome																												p.F228F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C684T	15						.	G		1,4401		0,1,2200	35.0	34.0	35.0		684	0.8	0.6	15	dbSNP_134	35	0,8592		0,0,4296	no	coding-synonymous	NDN	NM_002487.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		228/322	23931681	1,12993	2201	4296	6497	21482774	SO:0001819	synonymous_variant	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.684C>T	15.37:g.23931681G>A			21482774	NM_002487	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																				0.602	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
NDN	4692	broad.mit.edu	37	15	23932017	23932017	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:23932017C>A	ENST00000331837.4	-	1	433	c.348G>T	c.(346-348)aaG>aaT	p.K116N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	116	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K116N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATGATCATCTTCTTCTGGT	0.642									Prader-Willi syndrome																												p.K116N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	15						.						89.0	82.0	84.0					15																	23932017		2203	4300	6503	21483110	SO:0001583	missense	4692	exon1	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.348G>T	15.37:g.23932017C>A	ENSP00000332643:p.Lys116Asn		21483110	NM_002487	B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436299	0.43224	.	.	ENSG00000182636	ENST00000331837	T	0.06608	3.28	3.7	-1.01	0.10169	.	0.184969	0.42821	D	0.000644	T	0.15046	0.0363	M	0.73217	2.22	0.33121	D	0.541792	D	0.54397	0.966	D	0.64877	0.93	T	0.09997	-1.0649	10	0.87932	D	0	.	4.4694	0.11704	0.0:0.419:0.3477:0.2333	.	116	Q99608	NECD_HUMAN	N	116	ENSP00000332643:K116N	ENSP00000332643:K116N	K	-	3	2	NDN	21483110	0.000000	0.05858	0.240000	0.24138	0.701000	0.40568	-0.679000	0.05203	-0.325000	0.08577	-0.175000	0.13238	AAG		0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
NPAP1	23742	broad.mit.edu	37	15	24921209	24921209	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:24921209C>T	ENST00000329468.2	+	1	669	c.195C>T	c.(193-195)ttC>ttT	p.F65F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	65					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F65F(1)									CCAGCATCTTCGTCGCCCCTA	0.721																																					p.F65F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C195T	15						.						18.0	22.0	20.0					15																	24921209		2193	4278	6471	22472302	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.195C>T	15.37:g.24921209C>T			22472302	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.721	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24921850	24921850	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:24921850A>G	ENST00000329468.2	+	1	1310	c.836A>G	c.(835-837)gAa>gGa	p.E279G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	279					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E279G(1)									TTGGCTGCGGAAGTGCTGAAT	0.602																																					p.E279G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A836G	15						.						40.0	41.0	41.0					15																	24921850		2203	4299	6502	22472943	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.836A>G	15.37:g.24921850A>G	ENSP00000333735:p.Glu279Gly		22472943	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.673062	0.29693	.	.	ENSG00000185823	ENST00000329468	T	0.12465	2.68	1.78	0.529	0.17095	.	0.767664	0.10766	N	0.636588	T	0.08492	0.0211	L	0.29908	0.895	0.09310	N	1	P	0.38370	0.628	B	0.36922	0.236	T	0.30416	-0.9979	10	0.30078	T	0.28	.	3.7849	0.08695	0.6668:0.0:0.0:0.3331	.	279	Q9NZP6	CO002_HUMAN	G	279	ENSP00000333735:E279G	ENSP00000333735:E279G	E	+	2	0	C15orf2	22472943	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.021000	0.13489	0.128000	0.18479	0.358000	0.22013	GAA		0.602	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24921938	24921938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:24921938C>A	ENST00000329468.2	+	1	1398	c.924C>A	c.(922-924)ttC>ttA	p.F308L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	308	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F308L(1)									AGAAGCCTTTCTGTATTCCTC	0.582																																					p.F308L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C924A	15						.						51.0	51.0	51.0					15																	24921938		2203	4300	6503	22473031	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.924C>A	15.37:g.24921938C>A	ENSP00000333735:p.Phe308Leu		22473031	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.453	1.091186	0.20471	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	1.69	-3.37	0.04898	.	3.158670	0.01402	N	0.013658	T	0.07503	0.0189	N	0.22421	0.69	0.09310	N	1	P	0.34934	0.476	B	0.36666	0.23	T	0.15321	-1.0441	10	0.28530	T	0.3	.	3.7762	0.08661	0.3419:0.4811:0.177:0.0	.	308	Q9NZP6	CO002_HUMAN	L	308	ENSP00000333735:F308L	ENSP00000333735:F308L	F	+	3	2	C15orf2	22473031	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.657000	0.05335	-0.963000	0.03600	0.205000	0.17691	TTC		0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24923330	24923330	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:24923330C>A	ENST00000329468.2	+	1	2790	c.2316C>A	c.(2314-2316)ccC>ccA	p.P772P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	772					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P772P(1)									CCCCTCAACCCAAATTTGGGG	0.562																																					p.P772P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2316A	15						.						111.0	130.0	123.0					15																	24923330		2203	4300	6503	22474423	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2316C>A	15.37:g.24923330C>A			22474423	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.562	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24923760	24923760	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:24923760C>A	ENST00000329468.2	+	1	3220	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	916					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L916M(1)									TTCTTTTATTCTGGGGAATCC	0.483																																					p.L916M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2746A	15						.						108.0	115.0	112.0					15																	24923760		2203	4300	6503	22474853	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2746C>A	15.37:g.24923760C>A	ENSP00000333735:p.Leu916Met		22474853	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.42	2.530368	0.45073	.	.	ENSG00000185823	ENST00000329468	T	0.11277	2.79	2.04	-3.7	0.04437	.	2.261340	0.02424	N	0.082851	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.17868	-1.0355	10	0.41790	T	0.15	.	4.2521	0.10700	0.0:0.4821:0.2146:0.3033	.	916	Q9NZP6	CO002_HUMAN	M	916	ENSP00000333735:L916M	ENSP00000333735:L916M	L	+	1	2	C15orf2	22474853	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-2.866000	0.00723	-1.044000	0.03254	0.313000	0.20887	CTG		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
UBE3A	7337	broad.mit.edu	37	15	25599562	25599562	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25599562G>T	ENST00000397954.2	-	9	2300	c.2301C>A	c.(2299-2301)ttC>ttA	p.F767L	UBE3A_ENST00000428984.2_Missense_Mutation_p.F744L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.F744L|UBE3A_ENST00000438097.1_Missense_Mutation_p.F744L|UBE3A_ENST00000232165.3_Missense_Mutation_p.F764L			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	767					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.F767L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTAGTGCTTGGAAATCTAGAT	0.358																																					p.F764L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2292A	15						.						149.0	128.0	135.0					15																	25599562		2203	4300	6503	23150655	SO:0001583	missense	7337	exon11			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2301C>A	15.37:g.25599562G>T	ENSP00000381045:p.Phe767Leu		23150655	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783402	0.70222	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.56	4.65	0.58169	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	L	0.39514	1.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.976	T	0.59925	-0.7362	10	0.46703	T	0.11	.	9.247	0.37532	0.2075:0.0:0.7925:0.0	.	764;767	Q05086-3;Q05086	.;UBE3A_HUMAN	L	764;764;767;744;744	ENSP00000232165:F764L;ENSP00000381045:F767L;ENSP00000411258:F744L;ENSP00000401265:F744L	ENSP00000232165:F764L	F	-	3	2	UBE3A	23150655	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.565000	0.36386	1.352000	0.45808	0.591000	0.81541	TTC		0.358	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBE3A	7337	broad.mit.edu	37	15	25601861	25601861	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25601861G>A	ENST00000397954.2	-	6	1944	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	UBE3A_ENST00000428984.2_Missense_Mutation_p.R626C|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R626C|UBE3A_ENST00000438097.1_Missense_Mutation_p.R626C|UBE3A_ENST00000232165.3_Missense_Mutation_p.R646C			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	649				TFR -> LFV (in Ref. 7; AAA35542). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R649C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CCCAAGTCACGAAAAGTTCCT	0.333																																					p.R646C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1936T	15						.						130.0	141.0	137.0					15																	25601861		2203	4300	6503	23152954	SO:0001583	missense	7337	exon8			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1945C>T	15.37:g.25601861G>A	ENSP00000381045:p.Arg649Cys		23152954	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094282	0.36952	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.72	4.79	0.61399	HECT (4);	0.099783	0.64402	N	0.000001	T	0.51975	0.1706	L	0.42632	1.34	0.80722	D	1	D;B	0.58620	0.983;0.055	B;B	0.42653	0.394;0.009	T	0.57306	-0.7834	10	0.56958	D	0.05	.	15.0885	0.72174	0.0688:0.0:0.9312:0.0	.	646;649	Q05086-3;Q05086	.;UBE3A_HUMAN	C	646;646;649;626;626	ENSP00000232165:R646C;ENSP00000381045:R649C;ENSP00000411258:R626C;ENSP00000401265:R626C	ENSP00000232165:R646C	R	-	1	0	UBE3A	23152954	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	3.704000	0.54815	1.401000	0.46761	0.655000	0.94253	CGT		0.333	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBE3A	7337	broad.mit.edu	37	15	25615813	25615813	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25615813C>A	ENST00000397954.2	-	4	1516	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	UBE3A_ENST00000428984.2_Missense_Mutation_p.R483I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R483I|UBE3A_ENST00000438097.1_Missense_Mutation_p.R483I|UBE3A_ENST00000232165.3_Missense_Mutation_p.R503I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	506	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R506I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AACAGTGATTCTTCGTTCACT	0.363																																					p.R503I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508T	15						.						101.0	92.0	95.0					15																	25615813		2203	4297	6500	23166906	SO:0001583	missense	7337	exon6			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1517G>T	15.37:g.25615813C>A	ENSP00000381045:p.Arg506Ile		23166906	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375328	0.82682	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	D	0.94734	0.7912	10	0.87932	D	0	.	19.2105	0.93753	0.0:1.0:0.0:0.0	.	503;506	Q05086-3;Q05086	.;UBE3A_HUMAN	I	503;503;506;483;483	ENSP00000232165:R503I;ENSP00000381045:R506I;ENSP00000411258:R483I;ENSP00000401265:R483I	ENSP00000232165:R503I	R	-	2	0	UBE3A	23166906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	AGA		0.363	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBE3A	7337	broad.mit.edu	37	15	25615914	25615914	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25615914C>A	ENST00000397954.2	-	4	1415	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	UBE3A_ENST00000428984.2_Missense_Mutation_p.E449D|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.E449D|UBE3A_ENST00000438097.1_Missense_Mutation_p.E449D|UBE3A_ENST00000232165.3_Missense_Mutation_p.E469D			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	472	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.E472D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGAATTTGTTCTCTGTTTCTA	0.313																																					p.E469D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1407T	15						.						40.0	40.0	40.0					15																	25615914		2203	4299	6502	23167007	SO:0001583	missense	7337	exon6			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1416G>T	15.37:g.25615914C>A	ENSP00000381045:p.Glu472Asp		23167007	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	8.033	0.762109	0.15914	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.25	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	N	0.21097	0.63	0.51482	D	0.999923	B;B	0.16802	0.019;0.002	B;B	0.21360	0.034;0.005	T	0.33701	-0.9858	10	0.15499	T	0.54	.	6.4922	0.22121	0.0:0.4471:0.0:0.5529	.	469;472	Q05086-3;Q05086	.;UBE3A_HUMAN	D	469;469;472;449;449	ENSP00000232165:E469D;ENSP00000381045:E472D;ENSP00000411258:E449D;ENSP00000401265:E449D	ENSP00000232165:E469D	E	-	3	2	UBE3A	23167007	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.446000	0.21694	0.509000	0.28195	-0.373000	0.07131	GAG		0.313	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBE3A	7337	broad.mit.edu	37	15	25616254	25616254	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25616254C>T	ENST00000397954.2	-	4	1075	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000232165.3_Missense_Mutation_p.R356Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R359Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CACTAGATTTCGACTGTTAAA	0.383																																					p.R356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1067A	15						.						111.0	107.0	108.0					15																	25616254		2203	4300	6503	23167347	SO:0001583	missense	7337	exon6			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1076G>A	15.37:g.25616254C>T	ENSP00000381045:p.Arg359Gln		23167347	NM_130839	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663848	0.29515	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17691	2.26;2.26;2.27;2.27	5.73	5.73	0.89815	.	0.120739	0.56097	D	0.000031	T	0.11281	0.0275	N	0.22421	0.69	0.58432	D	0.999995	P;B	0.46020	0.871;0.226	B;B	0.34180	0.177;0.048	T	0.18713	-1.0328	10	0.12103	T	0.63	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	356;359	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	356;356;359;336;336	ENSP00000232165:R356Q;ENSP00000381045:R359Q;ENSP00000411258:R336Q;ENSP00000401265:R336Q	ENSP00000232165:R356Q	R	-	2	0	UBE3A	23167347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.956000	0.70315	2.718000	0.92993	0.585000	0.79938	CGA		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
ATP10A	57194	broad.mit.edu	37	15	25940213	25940213	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25940213C>A	ENST00000356865.6	-	14	2952	c.2841G>T	c.(2839-2841)aaG>aaT	p.K947N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	947					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K947N(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCACTTTGCCCTTGGTCTTCT	0.612																																					p.K947N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2841T	15						.						129.0	117.0	121.0					15																	25940213		2203	4300	6503	23491306	SO:0001583	missense	57194	exon14			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2841G>T	15.37:g.25940213C>A	ENSP00000349325:p.Lys947Asn		23491306	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128420	0.06753	.	.	ENSG00000206190	ENST00000356865	D	0.82711	-1.64	4.91	-9.81	0.00487	HAD-like domain (1);	1.886200	0.02280	N	0.069288	T	0.58133	0.2101	N	0.11673	0.155	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.56541	-0.7962	10	0.17832	T	0.49	0.4798	0.5771	0.00706	0.2843:0.0855:0.2509:0.3793	.	947	O60312	AT10A_HUMAN	N	947	ENSP00000349325:K947N	ENSP00000349325:K947N	K	-	3	2	ATP10A	23491306	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.487000	0.06505	-3.638000	0.00128	-1.141000	0.01876	AAG		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ATP10A	57194	broad.mit.edu	37	15	25961940	25961940	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25961940G>T	ENST00000356865.6	-	9	1824	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	571					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F571L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGCGATGAAGAAATCAAAGA	0.572																																					p.F571L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1713A	15						.						167.0	140.0	149.0					15																	25961940		2203	4300	6503	23513033	SO:0001583	missense	57194	exon9			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1713C>A	15.37:g.25961940G>T	ENSP00000349325:p.Phe571Leu		23513033	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021256	0.75275	.	.	ENSG00000206190	ENST00000356865	D	0.89270	-2.49	5.39	4.48	0.54585	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.81802	2.56	0.51482	D	0.999923	D	0.89917	1.0	D	0.91635	0.999	D	0.92430	0.5953	10	0.48119	T	0.1	-38.7619	8.6453	0.34003	0.2284:0.0:0.7716:0.0	.	571	O60312	AT10A_HUMAN	L	571	ENSP00000349325:F571L	ENSP00000349325:F571L	F	-	3	2	ATP10A	23513033	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	3.304000	0.51866	1.276000	0.44395	0.655000	0.94253	TTC		0.572	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
ATP10A	57194	broad.mit.edu	37	15	26026172	26026172	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:26026172C>T	ENST00000356865.6	-	2	759	c.648G>A	c.(646-648)tcG>tcA	p.S216S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	216					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S216S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTACAAGCTCCGAGAAGCCGC	0.607																																					p.S216S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G648A	15						.						57.0	61.0	60.0					15																	26026172		2203	4300	6503	23577265	SO:0001819	synonymous_variant	57194	exon2			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.648G>A	15.37:g.26026172C>T			23577265	NM_024490	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	CCDS32178.1																																																																																				0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
GABRB3	2562	broad.mit.edu	37	15	26792957	26792957	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:26792957G>A	ENST00000311550.5	-	9	1516	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	GABRB3_ENST00000545868.1_Silent_p.L384L|GABRB3_ENST00000299267.4_Silent_p.L469L|GABRB3_ENST00000541819.2_Silent_p.L525L|GABRB3_ENST00000400188.3_Silent_p.L398L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	469					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.L469L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACATAGTACAGCCAGTAAACT	0.353																																					p.L469L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1405T	15						.						89.0	75.0	80.0					15																	26792957		2203	4300	6503	24344050	SO:0001819	synonymous_variant	2562	exon9				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1405C>T	15.37:g.26792957G>A			24344050	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.353	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRB3	2562	broad.mit.edu	37	15	26793032	26793032	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:26793032C>T	ENST00000311550.5	-	9	1441	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	GABRB3_ENST00000545868.1_Missense_Mutation_p.D359N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D444N|GABRB3_ENST00000541819.2_Missense_Mutation_p.D500N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D373N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	444					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D444N(4)|p.D500N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCATTCACATCGGTTAGATCA	0.458																																					p.D444N												.	.	5	Substitution - Missense(5)	cervix(3)|large_intestine(2)	c.G1330A	15						.						121.0	100.0	107.0					15																	26793032		2203	4300	6503	24344125	SO:0001583	missense	2562	exon9				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1330G>A	15.37:g.26793032C>T	ENSP00000308725:p.Asp444Asn		24344125	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997911	0.54147	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84723	0.5535	L	0.48260	1.515	0.80722	D	1	P;P;P	0.50443	0.893;0.92;0.935	B;B;P	0.46362	0.296;0.267;0.514	T	0.82329	-0.0511	10	0.30078	T	0.28	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	500;444;444	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	444;500;444;373;359	ENSP00000308725:D444N;ENSP00000442408:D500N;ENSP00000299267:D444N;ENSP00000383049:D373N;ENSP00000439169:D359N	ENSP00000299267:D444N	D	-	1	0	GABRB3	24344125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.861000	0.98227	0.655000	0.94253	GAT		0.458	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRB3	2562	broad.mit.edu	37	15	26866642	26866642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:26866642C>A	ENST00000311550.5	-	4	391	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	GABRB3_ENST00000545868.1_Missense_Mutation_p.D9Y|GABRB3_ENST00000299267.4_Missense_Mutation_p.D94Y|GABRB3_ENST00000541819.2_Missense_Mutation_p.D150Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.D23Y	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	94					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D94Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCCTTTTATCTCTCCAATAT	0.433																																					p.D94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G280T	15						.						82.0	83.0	83.0					15																	26866642		2203	4300	6503	24417735	SO:0001583	missense	2562	exon4				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.280G>T	15.37:g.26866642C>A	ENSP00000308725:p.Asp94Tyr		24417735	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849486	0.91277	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99320	1.0906	10	0.87932	D	0	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	150;94;94	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Y	94;150;94;23;9;9	ENSP00000308725:D94Y;ENSP00000442408:D150Y;ENSP00000299267:D94Y;ENSP00000383049:D23Y;ENSP00000439169:D9Y;ENSP00000452272:D9Y	ENSP00000299267:D94Y	D	-	1	0	GABRB3	24417735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	GAT		0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
GABRA5	2558	broad.mit.edu	37	15	27126047	27126047	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:27126047G>A	ENST00000335625.5	+	4	1029	c.141G>A	c.(139-141)acG>acA	p.T47T	GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Silent_p.T47T|GABRA5_ENST00000355395.5_Silent_p.T47T|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	47					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T47T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACAACATCACGATATTTACCA	0.463																																					p.T47T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	15						.						101.0	102.0	101.0					15																	27126047		1978	4154	6132	24677140	SO:0001819	synonymous_variant	2558	exon4				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.141G>A	15.37:g.27126047G>A			24677140	NM_001165037	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																				0.463	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
GABRA5	2558	broad.mit.edu	37	15	27128356	27128356	+	Silent	SNP	C	C	T	rs367578626		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:27128356C>T	ENST00000335625.5	+	5	1140	c.252C>T	c.(250-252)ttC>ttT	p.F84F	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Silent_p.F84F|GABRA5_ENST00000355395.5_Silent_p.F84F|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	84					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.F84F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCACCAGCTTCGGCCCGGTGT	0.662																																					p.F84F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	15						.	C	,	0,4198		0,0,2099	63.0	71.0	69.0		252,252	-3.2	1.0	15		69	1,8427		0,1,4213	no	coding-synonymous,coding-synonymous	GABRA5	NM_000810.3,NM_001165037.1	,	0,1,6312	TT,TC,CC		0.0119,0.0,0.0079	,	84/463,84/463	27128356	1,12625	2099	4214	6313	24679449	SO:0001819	synonymous_variant	2558	exon5				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.252C>T	15.37:g.27128356C>T			24679449	NM_001165037	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																				0.662	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
GABRA5	2558	broad.mit.edu	37	15	27193221	27193221	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:27193221G>T	ENST00000335625.5	+	11	2118	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	GABRA5_ENST00000400081.3_Missense_Mutation_p.E410D|GABRA5_ENST00000355395.5_Missense_Mutation_p.E410D	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	410					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E410D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCTCTGAAGAGAAGACTTCTG	0.438																																					p.E410D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1230T	15						.						48.0	45.0	46.0					15																	27193221		1850	4097	5947	24775967	SO:0001583	missense	2558	exon11				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1230G>T	15.37:g.27193221G>T	ENSP00000335592:p.Glu410Asp		24775967	NM_001165037	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	2.629	-0.286750	0.05605	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.82711	-1.64;-1.64;-1.64	4.66	1.61	0.23674	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.284221	0.39475	N	0.001357	T	0.68081	0.2962	L	0.34521	1.04	0.31995	N	0.604105	B	0.06786	0.001	B	0.15052	0.012	T	0.57382	-0.7821	10	0.09084	T	0.74	.	7.5005	0.27516	0.1302:0.4789:0.3909:0.0	.	410	P31644	GBRA5_HUMAN	D	410	ENSP00000335592:E410D;ENSP00000347557:E410D;ENSP00000382953:E410D	ENSP00000335592:E410D	E	+	3	2	GABRA5	24775967	1.000000	0.71417	0.998000	0.56505	0.352000	0.29268	1.142000	0.31540	0.479000	0.27511	0.591000	0.81541	GAG		0.438	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
OCA2	4948	broad.mit.edu	37	15	28117044	28117044	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28117044C>A	ENST00000354638.3	-	20	2259	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	OCA2_ENST00000353809.5_Nonsense_Mutation_p.E678*	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	702					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.E702*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCAACATATTCTATTAAGTGG	0.318									Oculocutaneous Albinism																												p.E702X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2104T	15						.						109.0	114.0	113.0					15																	28117044		2203	4300	6503	25790639	SO:0001587	stop_gained	4948	exon20	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2104G>T	15.37:g.28117044C>A	ENSP00000346659:p.Glu702*		25790639	NM_000275	Q15211|Q15212|Q96EN1|Q9UMI5	Nonsense_Mutation	SNP	ENST00000354638.3	37	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	41	8.548944	0.98859	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	.	.	.	5.27	4.35	0.52113	.	0.101758	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-8.7188	11.5363	0.50639	0.0:0.9127:0.0:0.0873	.	.	.	.	X	702;678	.	ENSP00000261276:E678X	E	-	1	0	OCA2	25790639	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	6.152000	0.71812	1.220000	0.43490	0.655000	0.94253	GAA		0.318	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	
HERC2	8924	broad.mit.edu	37	15	28375399	28375400	+	Nonsense_Mutation	DNP	GA	GA	AG			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28375399_28375400GA>AG	ENST00000261609.7	-	83	12819_12820	c.12711_12712TC>CT	c.(12709-12714)gtTCga>gtCTga	p.R4238*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V4237>?(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGAGGCCTTCGAACATGGTCAT	0.554																																					.												.	.	1	Complex(1)	large_intestine(1)	c.12711_12712CT	15						.																																			26048995	SO:0001587	stop_gained	8924	exon83			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12711_12712delinsAG	15.37:g.28375399_28375400delinsAG	ENSP00000261609:p.Arg4238*		26048994	NM_004667		Nonsense_Mutation	DNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.554	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28420712G>A	ENST00000261609.7	-	64	9885	c.9777C>T	c.(9775-9777)atC>atT	p.I3259I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.I3259I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACATGCACGATCTTCTTCC	0.637																																					p.I3259I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9777T	15						.						66.0	52.0	57.0					15																	28420712		2203	4300	6503	26094307	SO:0001819	synonymous_variant	8924	exon64			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9777C>T	15.37:g.28420712G>A			26094307	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.637	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28460812	28460812	+	Silent	SNP	G	G	A	rs201824814		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28460812G>A	ENST00000261609.7	-	39	6273	c.6165C>T	c.(6163-6165)gtC>gtT	p.V2055V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.V2055V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTTCCACGACCTTCATGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		15030	0.0		0.0	False		,,,				2504	0.001				p.V2055V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6165T	15						.						21.0	18.0	19.0					15																	28460812		2202	4297	6499	26134407	SO:0001819	synonymous_variant	8924	exon39			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6165C>T	15.37:g.28460812G>A			26134407	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28463812	28463812	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28463812C>T	ENST00000261609.7	-	38	5959	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E1951K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCAGTTTGTTCGGCTTCTAAA	0.343																																					p.E1951K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5851A	15						.						38.0	48.0	44.0					15																	28463812		1351	2275	3626	26137407	SO:0001583	missense	8924	exon38			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5851G>A	15.37:g.28463812C>T	ENSP00000261609:p.Glu1951Lys		26137407	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672233	0.67928	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.47	0.39725	.	0.128657	0.51477	D	0.000093	T	0.28928	0.0718	L	0.47716	1.5	0.80722	D	1	P	0.44006	0.824	B	0.27500	0.08	T	0.11470	-1.0586	10	0.26408	T	0.33	.	14.0559	0.64769	0.1521:0.8479:0.0:0.0	.	1951	O95714	HERC2_HUMAN	K	1951	ENSP00000261609:E1951K	ENSP00000261609:E1951K	E	-	1	0	HERC2	26137407	1.000000	0.71417	0.973000	0.42090	0.571000	0.35966	7.320000	0.79064	1.191000	0.43056	0.650000	0.86243	GAA		0.343	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28467179	28467179	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28467179C>T	ENST00000261609.7	-	36	5755	c.5647G>A	c.(5647-5649)Gat>Aat	p.D1883N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.D1883N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTACCTGATCGCCCCATTTC	0.473																																					p.D1883N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5647A	15						.						17.0	12.0	13.0					15																	28467179		1985	3797	5782	26140774	SO:0001583	missense	8924	exon36			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5647G>A	15.37:g.28467179C>T	ENSP00000261609:p.Asp1883Asn		26140774	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242554	0.95272	.	.	ENSG00000128731	ENST00000261609	T	0.46451	0.87	4.38	4.38	0.52667	Mib-herc2 (2);	0.051853	0.64402	D	0.000001	T	0.57695	0.2071	L	0.45137	1.4	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.62300	-0.6883	10	0.87932	D	0	.	17.498	0.87724	0.0:1.0:0.0:0.0	.	1883	O95714	HERC2_HUMAN	N	1883	ENSP00000261609:D1883N	ENSP00000261609:D1883N	D	-	1	0	HERC2	26140774	1.000000	0.71417	0.953000	0.39169	0.987000	0.75469	7.278000	0.78587	2.423000	0.82170	0.650000	0.86243	GAT		0.473	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28514475	28514475	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28514475C>T	ENST00000261609.7	-	11	1473	c.1365G>A	c.(1363-1365)caG>caA	p.Q455Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.Q455Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACAGGCAATCTGTGTGACTC	0.517																																					p.Q455Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1365A	15						.						139.0	107.0	118.0					15																	28514475		2203	4300	6503	26188070	SO:0001819	synonymous_variant	8924	exon11			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1365G>A	15.37:g.28514475C>T			26188070	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
HERC2	8924	broad.mit.edu	37	15	28518135	28518135	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:28518135C>T	ENST00000261609.7	-	8	924	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.T272T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGTGGCTGGCGTTCCGTGAA	0.552																																					p.T272T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G816A	15						.						47.0	45.0	46.0					15																	28518135		2203	4300	6503	26191730	SO:0001819	synonymous_variant	8924	exon8			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.816G>A	15.37:g.28518135C>T			26191730	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
APBA2	321	broad.mit.edu	37	15	29346430	29346430	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:29346430G>T	ENST00000558402.1	+	5	942	c.343G>T	c.(343-345)Gac>Tac	p.D115Y	APBA2_ENST00000558259.1_Missense_Mutation_p.D115Y|APBA2_ENST00000561069.1_Missense_Mutation_p.D115Y|APBA2_ENST00000411764.1_Missense_Mutation_p.D115Y|APBA2_ENST00000558330.1_Missense_Mutation_p.D115Y			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	115					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.D115Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGAGGGCATGGACTGCAACGG	0.637																																					p.D115Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343T	15						.						127.0	104.0	111.0					15																	29346430		2203	4300	6503	27133722	SO:0001583	missense	321	exon3			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.343G>T	15.37:g.29346430G>T	ENSP00000453293:p.Asp115Tyr		27133722	NM_005503	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360428	0.82353	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.55234	0.53	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.75255	-0.3382	10	0.87932	D	0	.	17.5474	0.87866	0.0:0.0:1.0:0.0	.	115;115;115	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	Y	115	ENSP00000409312:D115Y	ENSP00000219865:D115Y	D	+	1	0	APBA2	27133722	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.995000	0.93534	2.354000	0.79902	0.557000	0.71058	GAC		0.637	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
APBA2	321	broad.mit.edu	37	15	29386515	29386515	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:29386515C>T	ENST00000558402.1	+	9	1849	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	APBA2_ENST00000558259.1_Splice_Site_p.A417V|APBA2_ENST00000561069.1_Splice_Site_p.A417V|APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558330.1_Intron			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	417	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.A417V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAGAAAAAAGCGGTGTGTAGG	0.522																																					p.A417V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1250T	15						.						184.0	173.0	177.0					15																	29386515		2203	4300	6503	27173807	SO:0001630	splice_region_variant	321	exon7			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1251+1C>T	15.37:g.29386515C>T			27173807	NM_005503	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159722	0.57368	.	.	ENSG00000034053	ENST00000219865	.	.	.	4.91	3.98	0.46160	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.309310	0.33477	N	0.004879	T	0.44932	0.1317	L	0.29908	0.895	0.80722	D	1	B	0.17268	0.021	B	0.12837	0.008	T	0.42682	-0.9437	9	0.46703	T	0.11	.	12.8934	0.58084	0.0:0.9146:0.0:0.0854	.	417	Q99767	APBA2_HUMAN	V	417	.	ENSP00000219865:A417V	A	+	2	0	APBA2	27173807	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.477000	0.45180	2.427000	0.82271	0.561000	0.74099	GCG		0.522	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	Missense_Mutation
TJP1	7082	broad.mit.edu	37	15	30000919	30000919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:30000919G>T	ENST00000346128.6	-	25	5168	c.4694C>A	c.(4693-4695)tCa>tAa	p.S1565*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.S1489*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.S1485*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.S1565*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1565					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S1565*(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGAGTTTTTGAAGACAAGTC	0.418																																					p.S1485X	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4454A	15						.						215.0	198.0	203.0					15																	30000919		1877	4112	5989	27788211	SO:0001587	stop_gained	7082	exon24				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4694C>A	15.37:g.30000919G>T	ENSP00000281537:p.Ser1565*		27788211	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	45	11.283592	0.99541	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.55	4.64	0.57946	.	0.480353	0.22570	N	0.058352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.798	0.69891	0.0686:0.0:0.9313:0.0	.	.	.	.	X	1565;1489;1565;1485;1485	.	ENSP00000281537:S1565X	S	-	2	0	TJP1	27788211	0.971000	0.33674	0.359000	0.25824	0.985000	0.73830	4.511000	0.60462	1.622000	0.50330	0.644000	0.83932	TCA		0.418	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
TJP1	7082	broad.mit.edu	37	15	30024838	30024838	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:30024838C>A	ENST00000346128.6	-	14	2392	c.1918G>T	c.(1918-1920)Gaa>Taa	p.E640*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.E644*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.E640*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.E640*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	640	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E640*(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AAACTACCTTCTCGAAGAACC	0.363																																					p.E640X	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1918T	15						.						70.0	67.0	68.0					15																	30024838		1824	4090	5914	27812130	SO:0001587	stop_gained	7082	exon14				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1918G>T	15.37:g.30024838C>A	ENSP00000281537:p.Glu640*		27812130	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	39	7.822935	0.98510	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	.	.	.	X	640;644;640;640;640	.	.	E	-	1	0	TJP1	27812130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	GAA		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
TJP1	7082	broad.mit.edu	37	15	30058590	30058590	+	Silent	SNP	C	C	T	rs199932396		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:30058590C>T	ENST00000346128.6	-	5	942	c.468G>A	c.(466-468)ccG>ccA	p.P156P	TJP1_ENST00000495972.2_Silent_p.P156P|TJP1_ENST00000400011.2_Silent_p.P160P|TJP1_ENST00000545208.2_Silent_p.P156P|TJP1_ENST00000356107.6_Silent_p.P156P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	156					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P156P(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCTATCCCTCGGCCAAATCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17197	0.0		0.001	False		,,,				2504	0.0				p.P156P	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G468A	15						.						147.0	149.0	148.0					15																	30058590		2008	4177	6185	27845882	SO:0001819	synonymous_variant	7082	exon5				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.468G>A	15.37:g.30058590C>T			27845882	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																				0.493	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
ARHGAP11B	89839	broad.mit.edu	37	15	30922926	30922926	+	Silent	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:30922926T>A	ENST00000428041.2	+	2	295	c.150T>A	c.(148-150)ccT>ccA	p.P50P		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	50	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P50P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TTGGAGTACCTTTTAATGCAC	0.368																																					p.P50P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T150A	15						.						37.0	40.0	39.0					15																	30922926		2196	4280	6476	28710218	SO:0001819	synonymous_variant	89839	exon2			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.150T>A	15.37:g.30922926T>A			28710218	NM_001039841		Silent	SNP	ENST00000428041.2	37	CCDS32185.1																																																																																				0.368	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1	NM_001039841	
FAN1	22909	broad.mit.edu	37	15	31197154	31197154	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:31197154T>C	ENST00000362065.4	+	2	579	c.288T>C	c.(286-288)gaT>gaC	p.D96D	FAN1_ENST00000561607.1_Silent_p.D96D|FAN1_ENST00000561594.1_Silent_p.D96D|FAN1_ENST00000565466.1_Silent_p.D96D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	96					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.D96D(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCTTAGAAGATGTAACACCTA	0.403								Direct reversal of damage																													p.D96D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T288C	15						.						74.0	69.0	71.0					15																	31197154		2202	4300	6502	28984446	SO:0001819	synonymous_variant	22909	exon2				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.288T>C	15.37:g.31197154T>C			28984446	NM_001146095	A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	CCDS32186.1																																																																																				0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
TRPM1	4308	broad.mit.edu	37	15	31324929	31324929	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:31324929T>G	ENST00000256552.6	-	22	3062	c.2915A>C	c.(2914-2916)aAg>aCg	p.K972T	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.K950T|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.K989T	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.K950T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCCAGATACTTGTTGACACC	0.488																																					p.K950T												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.A2849C	15						.						121.0	116.0	118.0					15																	31324929		2001	4184	6185	29112221	SO:0001583	missense	4308	exon21			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2915A>C	15.37:g.31324929T>G	ENSP00000256552:p.Lys972Thr		29112221	NM_002420		Missense_Mutation	SNP	ENST00000256552.6	37	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557619	0.86231	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.73897	-0.79;-0.79;-0.79	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.87688	0.6240	M	0.88640	2.97	0.58432	D	0.999996	D;D	0.71674	0.998;0.971	D;P	0.66979	0.948;0.9	D	0.90180	0.4242	10	0.87932	D	0	-35.2937	15.7723	0.78180	0.0:0.0:0.0:1.0	.	944;950	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	950;989;972;950	ENSP00000380897:K950T;ENSP00000437849:K989T;ENSP00000256552:K972T	ENSP00000256552:K972T	K	-	2	0	TRPM1	29112221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.183000	0.69458	0.523000	0.50628	AAG		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
OTUD7A	161725	broad.mit.edu	37	15	31796012	31796012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:31796012G>T	ENST00000307050.4	-	7	974	c.882C>A	c.(880-882)aaC>aaA	p.N294K	OTUD7A_ENST00000382902.1_Missense_Mutation_p.N301K	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	294	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N294K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGTCCTCAGAGTTGTCCACAC	0.502																																					p.N294K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C882A	15						.						78.0	74.0	75.0					15																	31796012		2202	4300	6502	29583304	SO:0001583	missense	161725	exon7			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.882C>A	15.37:g.31796012G>T	ENSP00000305926:p.Asn294Lys		29583304	NM_130901	Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846758	0.51164	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32023	1.48;1.47	4.67	1.21	0.21127	Ovarian tumour, otubain (2);	0.091150	0.64402	D	0.000001	T	0.42585	0.1209	L	0.59436	1.845	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;D	0.69654	0.941;0.965	T	0.26608	-1.0098	10	0.62326	D	0.03	-39.3718	5.5081	0.16866	0.6176:0.0:0.3824:0.0	.	301;294	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	K	294;301	ENSP00000305926:N294K;ENSP00000372358:N301K	ENSP00000305926:N294K	N	-	3	2	OTUD7A	29583304	1.000000	0.71417	0.980000	0.43619	0.710000	0.40934	2.082000	0.41605	0.507000	0.28148	-0.136000	0.14681	AAC		0.502	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
CHRNA7	1139	broad.mit.edu	37	15	32404082	32404082	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:32404082A>G	ENST00000306901.3	+	4	429	c.332A>G	c.(331-333)gAc>gGc	p.D111G	CHRNA7_ENST00000454250.3_Missense_Mutation_p.D140G|CHRNA7_ENST00000455693.2_Intron	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	111					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.D111G(2)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TGGAAACCAGACATTCTTCTC	0.378																																					p.D140G	Esophageal Squamous(193;529 2900 40232 43193)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.A419G	15						.						157.0	149.0	152.0					15																	32404082		2201	4300	6501	30191374	SO:0001583	missense	1139	exon4			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.332A>G	15.37:g.32404082A>G	ENSP00000303727:p.Asp111Gly		30191374	NM_001190455	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018096	0.75275	.	.	ENSG00000175344	ENST00000454250;ENST00000306901;ENST00000449991	D;D	0.84800	-1.9;-1.9	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel ligand-binding (3);	0.091237	0.85682	D	0.000000	D	0.95172	0.8435	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.96415	0.9307	10	0.87932	D	0	.	12.617	0.56582	1.0:0.0:0.0:0.0	.	111;127;111	F5H8K5;B1N7F6;P36544	.;.;ACHA7_HUMAN	G	140;111;111	ENSP00000407546:D140G;ENSP00000303727:D111G	ENSP00000303727:D111G	D	+	2	0	CHRNA7	30191374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.321000	0.79088	2.138000	0.66242	0.533000	0.62120	GAC		0.378	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2		
ARHGAP11A	9824	broad.mit.edu	37	15	32917744	32917744	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:32917744C>A	ENST00000361627.3	+	6	1494	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.L69I|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.L69I|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.L258I|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.L258I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	258					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L258I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATTGATGGTCTCTGTGCTAC	0.408																																					p.L258I	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772A	15						.						142.0	145.0	144.0					15																	32917744		2201	4298	6499	30705036	SO:0001583	missense	9824	exon6			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.772C>A	15.37:g.32917744C>A	ENSP00000355090:p.Leu258Ile		30705036	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	9.085	1.000364	0.19121	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.09817	2.94	4.86	1.88	0.25563	.	0.553798	0.16278	N	0.221467	T	0.06735	0.0172	N	0.22421	0.69	0.18873	N	0.999985	B;B	0.10296	0.0;0.003	B;B	0.09377	0.001;0.004	T	0.39292	-0.9621	10	0.21540	T	0.41	.	8.8036	0.34923	0.0:0.5998:0.0:0.4002	.	258;69	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	I	258;69	ENSP00000355090:L258I	ENSP00000355090:L258I	L	+	1	0	ARHGAP11A	30705036	0.994000	0.37717	0.998000	0.56505	0.991000	0.79684	1.161000	0.31773	0.562000	0.29204	0.655000	0.94253	CTC		0.408	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
ARHGAP11A	9824	broad.mit.edu	37	15	32925187	32925187	+	Silent	SNP	C	C	T	rs138524535		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:32925187C>T	ENST00000361627.3	+	9	1835	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	ARHGAP11A_ENST00000565905.1_Silent_p.I182I|ARHGAP11A_ENST00000543522.1_Silent_p.I182I|ARHGAP11A_ENST00000563864.1_Intron|ARHGAP11A_ENST00000567348.1_Silent_p.I371I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	371					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.I371I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TAGTTCACATCGATACAAGCT	0.363																																					p.I371I	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1113T	15						.	C	,	2,4400		0,2,2199	155.0	148.0	151.0		1113,1113	-1.4	0.1	15	dbSNP_134	151	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGAP11A	NM_014783.3,NM_199357.1	,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,	371/1024,371/502	32925187	2,13000	2201	4300	6501	30712479	SO:0001819	synonymous_variant	9824	exon9			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1113C>T	15.37:g.32925187C>T			30712479	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	CCDS10028.1																																																																																				0.363	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
GREM1	26585	broad.mit.edu	37	15	33023238	33023238	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:33023238G>A	ENST00000300177.4	+	2	536	c.347G>A	c.(346-348)cGc>cAc	p.R116H	GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.R75H|GREM1_ENST00000560830.1_Missense_Mutation_p.R75H	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	116	CTCK.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R116H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		ATCATCAACCGCTTCTGTTAC	0.542																																					p.R46H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	15						.						95.0	74.0	81.0					15																	33023238		2201	4300	6501	30810530	SO:0001583	missense	26585	exon3				CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.347G>A	15.37:g.33023238G>A	ENSP00000300177:p.Arg116His		30810530	NM_001191322	Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006976	0.93287	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.34072	1.38;1.38	5.57	4.65	0.58169	DAN (1);Cystine knot, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.992	D;D;P	0.77557	0.92;0.99;0.893	T	0.55224	-0.8174	10	0.35671	T	0.21	-17.9568	13.8474	0.63477	0.0729:0.0:0.9271:0.0	.	75;116;46	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	H	116;75	ENSP00000300177:R116H;ENSP00000323101:R75H	ENSP00000300177:R116H	R	+	2	0	GREM1	30810530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.022000	0.88759	2.640000	0.89533	0.655000	0.94253	CGC		0.542	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372	
FMN1	342184	broad.mit.edu	37	15	33358755	33358755	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:33358755C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.R444Q|FMN1_ENST00000334528.9_Missense_Mutation_p.R444Q			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R444Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGAATTGGACCGTTCAAACAC	0.478																																					p.R444Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1331A	15						.						53.0	52.0	52.0					15																	33358755		1934	4150	6084	31146047	SO:0001627	intron_variant	342184	exon1			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1480G>A	15.37:g.33358755C>T			31146047	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162235	0.57368	.	.	ENSG00000248905	ENST00000334528	T	0.59224	0.28	5.96	5.96	0.96718	.	0.106928	0.64402	D	0.000009	T	0.72070	0.3415	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.928	T	0.71784	-0.4488	8	0.29301	T	0.29	.	13.5937	0.61975	0.0:0.9296:0.0:0.0704	.	444;444	Q68DA7-3;Q68DA7-5	.;.	Q	444	ENSP00000333950:R444Q	ENSP00000333950:R444Q	R	-	2	0	FMN1	31146047	1.000000	0.71417	0.968000	0.41197	0.744000	0.42396	4.985000	0.63845	2.832000	0.97577	0.655000	0.94253	CGG		0.478	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	33916104	33916104	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:33916104G>T	ENST00000389232.4	+	20	2524	c.2454G>T	c.(2452-2454)aaG>aaT	p.K818N	RYR3_ENST00000415757.3_Missense_Mutation_p.K818N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	818					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.K818N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAAAAGAGAAGATGAGATTGG	0.478																																					p.K818N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2454T	15						.						147.0	144.0	145.0					15																	33916104		1898	4124	6022	31703396	SO:0001583	missense	6263	exon20				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2454G>T	15.37:g.33916104G>T	ENSP00000373884:p.Lys818Asn		31703396	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411225	0.42817	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96856	-4.15;-4.15	4.86	3.95	0.45737	.	0.064498	0.64402	D	0.000009	D	0.97059	0.9039	L	0.54323	1.7	0.51767	D	0.999933	D;B	0.67145	0.996;0.314	D;B	0.77557	0.99;0.134	D	0.97087	0.9788	10	0.59425	D	0.04	.	13.2041	0.59785	0.0772:0.0:0.9228:0.0	.	818;818	Q15413-2;Q15413	.;RYR3_HUMAN	N	818	ENSP00000373884:K818N;ENSP00000399610:K818N	ENSP00000354735:K818N	K	+	3	2	RYR3	31703396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.211000	0.51137	1.277000	0.44412	-0.253000	0.11424	AAG		0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	33954539	33954539	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:33954539G>A	ENST00000389232.4	+	35	4878	c.4808G>A	c.(4807-4809)cGa>cAa	p.R1603Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R1603Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1603	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1603Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCTCCTTCGATCTGGTTTC	0.577																																					p.R1603Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4808A	15						.						77.0	73.0	74.0					15																	33954539		1996	4163	6159	31741831	SO:0001583	missense	6263	exon35				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4808G>A	15.37:g.33954539G>A	ENSP00000373884:p.Arg1603Gln		31741831	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192200	0.94960	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.73789	-0.78;-0.78	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	D	0.88273	0.6392	M	0.86953	2.85	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.90294	0.4325	10	0.87932	D	0	.	18.3307	0.90268	0.0:0.0:1.0:0.0	.	1603;1603	Q15413-2;Q15413	.;RYR3_HUMAN	Q	1603	ENSP00000373884:R1603Q;ENSP00000399610:R1603Q	ENSP00000354735:R1603Q	R	+	2	0	RYR3	31741831	1.000000	0.71417	0.253000	0.24343	0.971000	0.66376	9.601000	0.98297	2.563000	0.86464	0.650000	0.86243	CGA		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	33954987	33954987	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:33954987C>T	ENST00000389232.4	+	35	5326	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P	RYR3_ENST00000415757.3_Silent_p.P1752P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1752	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P1752P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATTGATCCCTCTGTGTTTG	0.557																																					p.P1752P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5256T	15						.						135.0	144.0	141.0					15																	33954987		2094	4233	6327	31742279	SO:0001819	synonymous_variant	6263	exon35				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5256C>T	15.37:g.33954987C>T			31742279	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34040439	34040439	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34040439G>A	ENST00000389232.4	+	54	8184	c.8114G>A	c.(8113-8115)cGa>cAa	p.R2705Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAAGCTTCGAAGTGTGTCC	0.577																																					p.R2705Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8114A	15						.						62.0	67.0	66.0					15																	34040439		1954	4150	6104	31827731	SO:0001583	missense	6263	exon54				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8114G>A	15.37:g.34040439G>A	ENSP00000373884:p.Arg2705Gln		31827731	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144145	0.77888	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96619	-4.07;-4.07	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	D	0.93148	0.7818	L	0.41492	1.28	0.52099	D	0.999941	B;B	0.27951	0.195;0.019	B;B	0.15870	0.014;0.005	D	0.90695	0.4616	10	0.20519	T	0.43	.	18.8778	0.92345	0.0:0.0:1.0:0.0	.	2705;2705	Q15413-2;Q15413	.;RYR3_HUMAN	Q	2705	ENSP00000373884:R2705Q;ENSP00000399610:R2705Q	ENSP00000354735:R2705Q	R	+	2	0	RYR3	31827731	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	7.158000	0.77470	2.679000	0.91253	0.655000	0.94253	CGA		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34047326	34047326	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34047326C>T	ENST00000389232.4	+	58	8530	c.8460C>T	c.(8458-8460)ttC>ttT	p.F2820F	RYR3_ENST00000415757.3_Silent_p.F2820F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2820	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F2820F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTATAAGTTCTTGAAGAAGA	0.403																																					p.F2820F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8460T	15						.						94.0	96.0	95.0					15																	34047326		1896	4121	6017	31834618	SO:0001819	synonymous_variant	6263	exon58				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8460C>T	15.37:g.34047326C>T			31834618	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.403	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34072491	34072491	+	Missense_Mutation	SNP	C	C	T	rs368231214		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34072491C>T	ENST00000389232.4	+	65	9287	c.9217C>T	c.(9217-9219)Cgc>Tgc	p.R3073C	RYR3_ENST00000415757.3_Missense_Mutation_p.R3073C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3073					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3073C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACCCTTAATCGCTACAATCC	0.532																																					p.R3073C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9217T	15						.	C	CYS/ARG	1,3849		0,1,1924	72.0	70.0	70.0		9217	0.2	1.0	15		70	0,8290		0,0,4145	no	missense	RYR3	NM_001036.3	180	0,1,6069	TT,TC,CC		0.0,0.026,0.0082	possibly-damaging	3073/4871	34072491	1,12139	1925	4145	6070	31859783	SO:0001583	missense	6263	exon65				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9217C>T	15.37:g.34072491C>T	ENSP00000373884:p.Arg3073Cys		31859783	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342739	0.24339	2.6E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.89123	-2.47;-2.47	5.52	0.191	0.15130	.	0.731440	0.13757	N	0.364885	T	0.77718	0.4172	N	0.14661	0.345	0.30853	N	0.734401	B;P	0.49961	0.002;0.93	B;B	0.42522	0.001;0.39	T	0.75071	-0.3447	10	0.66056	D	0.02	.	6.9632	0.24610	0.0:0.5314:0.1154:0.3531	.	3073;3073	Q15413-2;Q15413	.;RYR3_HUMAN	C	3073	ENSP00000373884:R3073C;ENSP00000399610:R3073C	ENSP00000354735:R3073C	R	+	1	0	RYR3	31859783	0.086000	0.21541	0.998000	0.56505	0.213000	0.24496	0.079000	0.14782	0.157000	0.19338	0.650000	0.86243	CGC		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34109101	34109101	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34109101G>T	ENST00000389232.4	+	75	10611	c.10541G>T	c.(10540-10542)aGa>aTa	p.R3514I	RYR3_ENST00000415757.3_Missense_Mutation_p.R3509I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3514					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3513I(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTATCAGAGATTTTGGATA	0.468																																					p.R3514I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10541T	15						.						74.0	69.0	71.0					15																	34109101		1865	4102	5967	31896393	SO:0001583	missense	6263	exon75				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10541G>T	15.37:g.34109101G>T	ENSP00000373884:p.Arg3514Ile		31896393	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220454	0.58560	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96745	-4.11	5.11	5.11	0.69529	.	0.111235	0.64402	D	0.000008	D	0.93546	0.7940	L	0.58101	1.795	0.58432	D	0.999997	P;P	0.41569	0.755;0.74	B;B	0.39590	0.26;0.304	D	0.92167	0.5740	10	0.62326	D	0.03	.	6.0933	0.20007	0.2174:0.0:0.7826:0.0	.	3509;3514	Q15413-2;Q15413	.;RYR3_HUMAN	I	3514;3513;3509	ENSP00000373884:R3514I	ENSP00000354735:R3509I	R	+	2	0	RYR3	31896393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.281000	0.72632	2.650000	0.89964	0.655000	0.94253	AGA		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34110880	34110880	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34110880G>T	ENST00000389232.4	+	76	10771	c.10701G>T	c.(10699-10701)gaG>gaT	p.E3567D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3562D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3567					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E3566D(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTCACGGAGAGGAGGTCAG	0.522																																					p.E3567D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10701T	15						.						81.0	86.0	84.0					15																	34110880		2065	4202	6267	31898172	SO:0001583	missense	6263	exon76				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10701G>T	15.37:g.34110880G>T	ENSP00000373884:p.Glu3567Asp		31898172	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031569	0.75504	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97328	-4.34	4.99	3.11	0.35812	.	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	M	0.77616	2.38	0.41148	D	0.986004	D;B	0.67145	0.996;0.33	D;B	0.65874	0.939;0.084	D	0.97308	0.9935	10	0.54805	T	0.06	.	11.1027	0.48184	0.1496:0.0:0.8504:0.0	.	3562;3567	Q15413-2;Q15413	.;RYR3_HUMAN	D	3567;3566;3562	ENSP00000373884:E3567D	ENSP00000354735:E3562D	E	+	3	2	RYR3	31898172	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.319000	0.43788	0.698000	0.31739	-0.136000	0.14681	GAG		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34123273	34123273	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34123273C>A	ENST00000389232.4	+	86	11514	c.11444C>A	c.(11443-11445)tCt>tAt	p.S3815Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3810Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3815					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.S3814Y(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTTTCAATTCTCTTACAGAA	0.378																																					p.S3815Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11444A	15						.						80.0	73.0	75.0					15																	34123273		1875	4102	5977	31910565	SO:0001583	missense	6263	exon86				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11444C>A	15.37:g.34123273C>A	ENSP00000373884:p.Ser3815Tyr		31910565	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246525	0.80024	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.68479	-0.33	5.65	5.65	0.86999	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.81802	2.56	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.83701	0.0182	10	0.87932	D	0	.	15.3988	0.74818	0.0:0.8616:0.1384:0.0	.	3810;3815	Q15413-2;Q15413	.;RYR3_HUMAN	Y	3815;3814;3811	ENSP00000373884:S3815Y	ENSP00000354735:S3811Y	S	+	2	0	RYR3	31910565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.763000	0.68818	2.941000	0.99782	0.655000	0.94253	TCT		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34134138	34134138	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34134138A>C	ENST00000389232.4	+	91	13181	c.13111A>C	c.(13111-13113)Aaa>Caa	p.K4371Q	RYR3_ENST00000415757.3_Missense_Mutation_p.K4366Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4371					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.K4370Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAGTGACAAAAAAGAAGAA	0.468																																					p.K4371Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13111C	15						.						68.0	77.0	74.0					15																	34134138		1893	4116	6009	31921430	SO:0001583	missense	6263	exon91				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13111A>C	15.37:g.34134138A>C	ENSP00000373884:p.Lys4371Gln		31921430	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	4.778	0.144727	0.09134	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.93906	-3.31	5.55	4.43	0.53597	Ryanodine Receptor TM 4-6 (1);	0.498586	0.20269	N	0.095714	D	0.83709	0.5313	N	0.14661	0.345	0.21697	N	0.999583	B;B	0.17667	0.023;0.001	B;B	0.21151	0.033;0.016	T	0.68032	-0.5516	10	0.10902	T	0.67	.	6.915	0.24355	0.7731:0.1507:0.0763:0.0	.	4366;4371	Q15413-2;Q15413	.;RYR3_HUMAN	Q	4371;4367	ENSP00000373884:K4371Q	ENSP00000354735:K4367Q	K	+	1	0	RYR3	31921430	0.877000	0.30153	0.062000	0.19696	0.072000	0.16883	2.777000	0.47717	1.137000	0.42214	0.533000	0.62120	AAA		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34134200	34134200	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34134200C>A	ENST00000389232.4	+	91	13243	c.13173C>A	c.(13171-13173)ttC>ttA	p.F4391L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4386L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4391					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F4390L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCAATTTCTTTAAAGGGC	0.502																																					p.F4391L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13173A	15						.						41.0	50.0	47.0					15																	34134200		1901	4106	6007	31921492	SO:0001583	missense	6263	exon91				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13173C>A	15.37:g.34134200C>A	ENSP00000373884:p.Phe4391Leu		31921492	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222091	0.58560	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.93133	-3.17	5.18	3.28	0.37604	Ryanodine Receptor TM 4-6 (1);	0.118422	0.64402	D	0.000020	D	0.88119	0.6351	L	0.35644	1.08	0.46044	D	0.998835	B;B	0.28850	0.225;0.019	B;B	0.26864	0.07;0.074	D	0.84121	0.0406	10	0.52906	T	0.07	.	9.8172	0.40860	0.0:0.7781:0.0:0.2219	.	4386;4391	Q15413-2;Q15413	.;RYR3_HUMAN	L	4391;4387	ENSP00000373884:F4391L	ENSP00000354735:F4387L	F	+	3	2	RYR3	31921492	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	0.726000	0.25984	0.748000	0.32831	0.655000	0.94253	TTC		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
AVEN	57099	broad.mit.edu	37	15	34295319	34295319	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34295319C>T	ENST00000306730.3	-	2	488	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	120					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)		p.R120Q(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ATCTTGATATCGATCCCAGTT	0.403																																					p.R120Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	15						.						152.0	131.0	138.0					15																	34295319		2201	4298	6499	32082611	SO:0001583	missense	57099	exon2			AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.359G>A	15.37:g.34295319C>T	ENSP00000306822:p.Arg120Gln		32082611	NM_020371		Missense_Mutation	SNP	ENST00000306730.3	37	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607775	0.87258	.	.	ENSG00000169857	ENST00000306730	T	0.59502	0.26	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77197	-0.2676	10	0.72032	D	0.01	-7.548	17.1238	0.86709	0.0:1.0:0.0:0.0	.	120	Q9NQS1	AVEN_HUMAN	Q	120	ENSP00000306822:R120Q	ENSP00000306822:R120Q	R	-	2	0	AVEN	32082611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.373000	0.66162	2.357000	0.79964	0.591000	0.81541	CGA		0.403	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371	
CHRM5	1133	broad.mit.edu	37	15	34356255	34356255	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34356255C>A	ENST00000383263.5	+	3	2007	c.1337C>A	c.(1336-1338)gCc>gAc	p.A446D	CHRM5_ENST00000557872.1_Missense_Mutation_p.A446D	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	446					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.A446D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACACTGAGTGCCATTCTCCTG	0.512																																					p.A446D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1337A	15						.						183.0	139.0	154.0					15																	34356255		2201	4298	6499	32143547	SO:0001583	missense	1133	exon3				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1337C>A	15.37:g.34356255C>A	ENSP00000372750:p.Ala446Asp		32143547	NM_012125	Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.251026	0.80135	.	.	ENSG00000184984	ENST00000383263	T	0.40225	1.04	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.051706	0.85682	D	0.000000	T	0.71230	0.3315	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75599	-0.3262	10	0.87932	D	0	-26.0051	19.4929	0.95059	0.0:1.0:0.0:0.0	.	446	P08912	ACM5_HUMAN	D	446	ENSP00000372750:A446D	ENSP00000372750:A446D	A	+	2	0	CHRM5	32143547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	GCC		0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2		
PGBD4	161779	broad.mit.edu	37	15	34396425	34396425	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34396425G>A	ENST00000397766.2	+	1	2152	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	565								p.E565K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTTTGTGCCGAATGTGATGT	0.418																																					p.E565K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1693A	15						.						162.0	134.0	143.0					15																	34396425		2201	4298	6499	32183717	SO:0001583	missense	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1693G>A	15.37:g.34396425G>A	ENSP00000380872:p.Glu565Lys		32183717	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.333396	0.01298	.	.	ENSG00000182405	ENST00000397766	T	0.15372	2.43	1.16	-1.48	0.08745	.	1.289640	0.06898	U	0.805460	T	0.04952	0.0133	N	0.04508	-0.205	0.09310	N	1	B	0.27951	0.195	B	0.20767	0.031	T	0.28808	-1.0032	10	0.02654	T	1	.	2.6291	0.04939	0.3986:0.2637:0.3377:0.0	.	565	Q96DM1	PGBD4_HUMAN	K	565	ENSP00000380872:E565K	ENSP00000380872:E565K	E	+	1	0	PGBD4	32183717	0.876000	0.30132	0.000000	0.03702	0.210000	0.24377	0.003000	0.13083	-0.415000	0.07484	0.306000	0.20318	GAA		0.418	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
KATNBL1	79768	broad.mit.edu	37	15	34455820	34455820	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34455820G>T	ENST00000256544.3	-	2	200	c.58C>A	c.(58-60)Cat>Aat	p.H20N		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	20						nucleolus (GO:0005730)		p.H20N(1)									TCAATGAAATGATCCTCAATC	0.279																																					p.H20N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58A	15						.						62.0	63.0	63.0					15																	34455820		2199	4284	6483	32243112	SO:0001583	missense	79768	exon2			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.58C>A	15.37:g.34455820G>T	ENSP00000256544:p.His20Asn		32243112	NM_024713	A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243263	0.39697	.	.	ENSG00000134152	ENST00000256544	.	.	.	4.12	4.12	0.48240	.	0.328559	0.30519	N	0.009454	T	0.26231	0.0640	L	0.27053	0.805	0.22989	N	0.998462	B	0.12013	0.005	B	0.09377	0.004	T	0.10428	-1.0630	9	0.14252	T	0.57	.	10.2457	0.43339	0.0934:0.0:0.9066:0.0	.	20	Q9H079	CO029_HUMAN	N	20	.	ENSP00000256544:H20N	H	-	1	0	C15orf29	32243112	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.479000	0.45197	2.299000	0.77371	0.557000	0.71058	CAT		0.279	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713	
SLC12A6	9990	broad.mit.edu	37	15	34530594	34530594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34530594G>A	ENST00000354181.3	-	21	3133	c.2641C>T	c.(2641-2643)Cga>Tga	p.R881*	SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.R822*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.R693*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.R693*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.R822*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.R830*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.R872*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.R881*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.R866*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.R881*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	881					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.R830*(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTTGTCACTCGAACTGTGCCT	0.458																																					p.R866X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2596T	15						.						90.0	80.0	83.0					15																	34530594		2201	4298	6499	32317886	SO:0001587	stop_gained	9990	exon19			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2641C>T	15.37:g.34530594G>A	ENSP00000346112:p.Arg881*		32317886	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	G	43	10.319784	0.99382	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	5.01	5.01	0.66863	.	0.132353	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2625	0.87073	0.0:0.0:1.0:0.0	.	.	.	.	X	830;866;872;822;822;693	.	ENSP00000290209:R830X	R	-	1	2	SLC12A6	32317886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.383000	0.73172	2.586000	0.87340	0.655000	0.94253	CGA		0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
NUTM1	256646	broad.mit.edu	37	15	34649003	34649003	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:34649003C>A	ENST00000333756.4	+	7	2865	c.2710C>A	c.(2710-2712)Cta>Ata	p.L904I	NUTM1_ENST00000438749.3_Missense_Mutation_p.L922I|NUTM1_ENST00000537011.1_Missense_Mutation_p.L932I	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	904						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L904I(1)									TGTCAACATACTAGATGTTAA	0.512																																					p.L904I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2710A	15						.						59.0	56.0	57.0					15																	34649003		2201	4298	6499	32436295	SO:0001583	missense	256646	exon7			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2710C>A	15.37:g.34649003C>A	ENSP00000329448:p.Leu904Ile		32436295	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588706	0.46110	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.12465	2.69;2.68;2.7	5.08	1.01	0.19927	.	0.491345	0.17250	N	0.181212	T	0.14960	0.0361	M	0.64997	1.995	0.09310	N	1	P;P;P	0.45957	0.793;0.869;0.793	B;B;B	0.43680	0.245;0.427;0.245	T	0.11155	-1.0599	10	0.66056	D	0.02	.	5.3013	0.15780	0.0:0.5027:0.3198:0.1775	.	922;932;904	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	I	932;922;904	ENSP00000444896:L932I;ENSP00000407031:L922I;ENSP00000329448:L904I	ENSP00000329448:L904I	L	+	1	2	C15orf55	32436295	0.014000	0.17966	0.015000	0.15790	0.004000	0.04260	0.398000	0.20899	0.040000	0.15660	-0.909000	0.02823	CTA		0.512	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
AQR	9716	broad.mit.edu	37	15	35152273	35152273	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:35152273A>G	ENST00000156471.5	-	34	4338	c.4113T>C	c.(4111-4113)caT>caC	p.H1371H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1371					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H1371H(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTGTATCAAATGCATGTACA	0.303																																					p.H1371H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4113C	15						.						167.0	151.0	156.0					15																	35152273		1809	4067	5876	32939565	SO:0001819	synonymous_variant	9716	exon34			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.4113T>C	15.37:g.35152273A>G			32939565	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																				0.303	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	broad.mit.edu	37	15	35174815	35174815	+	Missense_Mutation	SNP	C	C	T	rs370660482		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:35174815C>T	ENST00000156471.5	-	27	3278	c.3053G>A	c.(3052-3054)cGa>cAa	p.R1018Q		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1018					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1018Q(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGTCCACTTCGAAGCAATTC	0.393																																					p.R1018Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3053A	15						.	C	GLN/ARG	2,3668		0,2,1833	96.0	91.0	93.0		3053	5.7	1.0	15		93	0,8194		0,0,4097	no	missense	AQR	NM_014691.2	43	0,2,5930	TT,TC,CC		0.0,0.0545,0.0169	probably-damaging	1018/1486	35174815	2,11862	1835	4097	5932	32962107	SO:0001583	missense	9716	exon27			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3053G>A	15.37:g.35174815C>T	ENSP00000156471:p.Arg1018Gln		32962107	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.876509	0.97055	5.45E-4	0.0	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.81247	-1.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90977	0.4824	10	0.52906	T	0.07	-9.374	19.9019	0.96988	0.0:1.0:0.0:0.0	.	1018	O60306	AQR_HUMAN	Q	1018	ENSP00000156471:R1018Q	ENSP00000156471:R1018Q	R	-	2	0	AQR	32962107	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.090000	0.71397	2.698000	0.92095	0.591000	0.81541	CGA		0.393	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	broad.mit.edu	37	15	35192958	35192958	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:35192958G>A	ENST00000156471.5	-	20	2333	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	703					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S703L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGGCATTTTCGAATAATGTGC	0.413																																					p.S703L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2108T	15						.						141.0	129.0	133.0					15																	35192958		1922	4137	6059	32980250	SO:0001583	missense	9716	exon20			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2108C>T	15.37:g.35192958G>A	ENSP00000156471:p.Ser703Leu		32980250	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723226	0.68959	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93953	-3.32	5.78	5.78	0.91487	.	0.057776	0.64402	D	0.000001	D	0.93370	0.7886	M	0.78223	2.4	0.80722	D	1	P	0.43826	0.818	B	0.39738	0.308	D	0.92195	0.5763	10	0.32370	T	0.25	-15.9881	20.3754	0.98918	0.0:0.0:1.0:0.0	.	703	O60306	AQR_HUMAN	L	703	ENSP00000156471:S703L	ENSP00000156471:S703L	S	-	2	0	AQR	32980250	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.894000	0.99253	0.591000	0.81541	TCG		0.413	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
AQR	9716	broad.mit.edu	37	15	35240485	35240485	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:35240485C>A	ENST00000156471.5	-	5	535	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	104					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E104*(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGCACGTTTTCTCTAAACTTC	0.378																																					p.E104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G310T	15						.						159.0	152.0	154.0					15																	35240485		1883	4113	5996	33027777	SO:0001587	stop_gained	9716	exon5			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.310G>T	15.37:g.35240485C>A	ENSP00000156471:p.Glu104*		33027777	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Nonsense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557972	0.86231	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.6404	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000156471:E104X	E	-	1	0	AQR	33027777	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.745000	0.85046	2.831000	0.97527	0.650000	0.86243	GAA		0.378	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
DPH6	89978	broad.mit.edu	37	15	35814428	35814428	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:35814428C>T	ENST00000256538.4	-	3	339				DPH6_ENST00000440392.2_Missense_Mutation_p.D122N	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.D122N(1)									ATGTGAAAATCTTGGAGATTC	0.428																																					p.D122N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	15						.						83.0	72.0	75.0					15																	35814428		1566	3580	5146	33601720	SO:0001627	intron_variant	89978	exon4				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.312+16046G>A	15.37:g.35814428C>T			33601720	NM_001141972	B3KWG1|Q96HJ6	Intron	SNP	ENST00000256538.4	37	CCDS10043.1	.	.	.	.	.	.	.	.	.	.	C	0.650	-0.809843	0.02798	.	.	ENSG00000134146	ENST00000440392	T	0.44083	0.93	5.33	3.44	0.39384	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.20926	N	0.99982	B	0.02656	0.0	B	0.08055	0.003	T	0.29397	-1.0013	8	0.02654	T	1	.	7.0823	0.25237	0.139:0.714:0.0:0.1469	.	122	B3KWG1	.	N	122	ENSP00000406976:D122N	ENSP00000406976:D122N	D	-	1	0	ATPBD4	33601720	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.969000	0.40510	0.806000	0.34183	0.655000	0.94253	GAT		0.428	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650	
MEIS2	4212	broad.mit.edu	37	15	37188835	37188835	+	Nonsense_Mutation	SNP	G	G	A	rs367563077		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:37188835G>A	ENST00000561208.1	-	10	1448	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000338564.5_Nonsense_Mutation_p.R344*|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*			O14770	MEIS2_HUMAN	Meis homeobox 2	344	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R344*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTGCCTGCTCGATTTGACTGG	0.398																																					p.R344X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1030T	15						.						179.0	154.0	163.0					15																	37188835		2201	4297	6498	34976127	SO:0001587	stop_gained	4212	exon10			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1030C>T	15.37:g.37188835G>A	ENSP00000453793:p.Arg344*		34976127	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Nonsense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	40	8.199426	0.98701	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3478	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	344;344;344;344;344;331;331;256;198	.	ENSP00000219869:R198X	R	-	1	2	MEIS2	34976127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CGA		0.398	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
MEIS2	4212	broad.mit.edu	37	15	37390245	37390245	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:37390245C>T	ENST00000561208.1	-	2	586	c.168G>A	c.(166-168)ccG>ccA	p.P56P	MEIS2_ENST00000424352.2_Silent_p.P56P|MEIS2_ENST00000340545.5_Silent_p.P43P|MEIS2_ENST00000559085.1_Silent_p.P43P|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000444725.1_Silent_p.P56P|MEIS2_ENST00000338564.5_Silent_p.P56P|MEIS2_ENST00000382766.2_Silent_p.P56P|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000559561.1_Silent_p.P56P|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Silent_p.P43P			O14770	MEIS2_HUMAN	Meis homeobox 2	56					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P56P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CATTGGGGTGCGGGGCGTGCG	0.677																																					p.P56P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G168A	15						.						59.0	60.0	59.0					15																	37390245		2201	4297	6498	35177537	SO:0001819	synonymous_variant	4212	exon2			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.168G>A	15.37:g.37390245C>T			35177537	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	CCDS10044.1																																																																																				0.677	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
MEIS2	4212	broad.mit.edu	37	15	37391659	37391659	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:37391659T>C	ENST00000561208.1	-	1	427	c.9A>G	c.(7-9)caA>caG	p.Q3Q	MEIS2_ENST00000424352.2_Silent_p.Q3Q|MEIS2_ENST00000340545.5_Intron|MEIS2_ENST00000559085.1_5'Flank|MEIS2_ENST00000397624.3_5'Flank|MEIS2_ENST00000444725.1_Silent_p.Q3Q|MEIS2_ENST00000338564.5_Silent_p.Q3Q|MEIS2_ENST00000382766.2_Silent_p.Q3Q|MEIS2_ENST00000397620.2_5'Flank|MEIS2_ENST00000559561.1_Silent_p.Q3Q|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_5'Flank			O14770	MEIS2_HUMAN	Meis homeobox 2	3					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q3Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AACCTACCCTTTGCGCCATCA	0.458																																					p.Q3Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A9G	15						.						126.0	134.0	131.0					15																	37391659		2200	4297	6497	35178951	SO:0001819	synonymous_variant	4212	exon1			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.9A>G	15.37:g.37391659T>C			35178951	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	CCDS10044.1																																																																																				0.458	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
SPRED1	161742	broad.mit.edu	37	15	38591612	38591612	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:38591612G>A	ENST00000299084.4	+	2	931	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	24	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.R24P(1)|p.R24Q(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTGATGACCCGAGATGACTCA	0.458									Legius syndrome																												p.R24Q	Melanoma(196;2146 2959 7698 16532)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G71A	15						.						125.0	115.0	118.0					15																	38591612		2200	4297	6497	36378904	SO:0001583	missense	161742	exon2	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.71G>A	15.37:g.38591612G>A	ENSP00000299084:p.Arg24Gln		36378904	NM_152594	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	36	5.727502	0.96847	.	.	ENSG00000166068	ENST00000299084	D	0.86366	-2.11	5.72	5.72	0.89469	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93226	0.6613	10	0.48119	T	0.1	-10.0701	19.8868	0.96915	0.0:0.0:1.0:0.0	.	24	Q7Z699	SPRE1_HUMAN	Q	24	ENSP00000299084:R24Q	ENSP00000299084:R24Q	R	+	2	0	SPRED1	36378904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.709000	0.92574	0.655000	0.94253	CGA		0.458	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1		
FAM98B	283742	broad.mit.edu	37	15	38762474	38762474	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:38762474G>T	ENST00000491535.1	+	4	407	c.399G>T	c.(397-399)aaG>aaT	p.K133N	FAM98B_ENST00000397609.2_Missense_Mutation_p.K133N	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.K133N(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TACAGAACAAGAAACATAAAA	0.274																																					p.K133N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G399T	15						.						26.0	27.0	27.0					15																	38762474		2194	4287	6481	36549766	SO:0001583	missense	283742	exon4				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.399G>T	15.37:g.38762474G>T	ENSP00000453166:p.Lys133Asn		36549766	NM_173611	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509846	0.64522	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.50001	0.76	4.78	3.84	0.44239	.	0.325783	0.36101	N	0.002790	T	0.59636	0.2208	L	0.49640	1.575	0.53005	D	0.999968	D;P	0.76494	0.999;0.941	D;P	0.72625	0.978;0.676	T	0.56080	-0.8038	10	0.27082	T	0.32	-16.6284	13.8186	0.63308	0.0756:0.0:0.9244:0.0	.	133;133	A8MUW5;Q52LJ0	.;FA98B_HUMAN	N	133	ENSP00000380734:K133N	ENSP00000303412:K133N	K	+	3	2	FAM98B	36549766	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.590000	0.46154	1.346000	0.45694	0.585000	0.79938	AAG		0.274	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
RASGRP1	10125	broad.mit.edu	37	15	38803830	38803830	+	Missense_Mutation	SNP	G	G	A	rs369326621		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:38803830G>A	ENST00000310803.5	-	8	1118	c.941C>T	c.(940-942)tCg>tTg	p.S314L	RASGRP1_ENST00000450598.2_Missense_Mutation_p.S314L|RASGRP1_ENST00000558164.1_Missense_Mutation_p.S314L|RASGRP1_ENST00000559830.1_Missense_Mutation_p.S314L|RASGRP1_ENST00000561180.1_Missense_Mutation_p.S365L|RASGRP1_ENST00000539159.1_Missense_Mutation_p.S266L	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	314	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.S314L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGGACATGCGAACTTGTCTC	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22735	0.0		0.0	False		,,,				2504	0.001				p.S314L												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C941T	15						.	G	LEU/SER,LEU/SER	0,4002		0,0,2001	121.0	121.0	121.0		941,941	5.4	1.0	15		121	1,8347		0,1,4173	no	missense,missense	RASGRP1	NM_001128602.1,NM_005739.3	145,145	0,1,6174	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	314/763,314/798	38803830	1,12349	2001	4174	6175	36591122	SO:0001583	missense	10125	exon8			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.941C>T	15.37:g.38803830G>A	ENSP00000310244:p.Ser314Leu		36591122	NM_005739	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335762	0.95758	0.0	1.2E-4	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.38	5.38	0.77491	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.220979	0.40640	N	0.001060	T	0.42177	0.1191	M	0.69358	2.11	0.80722	D	1	D;P;P;P	0.53462	0.96;0.782;0.782;0.859	P;P;B;B	0.46110	0.504;0.473;0.393;0.342	T	0.44003	-0.9356	10	0.72032	D	0.01	-9.966	19.3333	0.94303	0.0:0.0:1.0:0.0	.	314;314;314;314	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	L	314;314;314;314;266;314;314	ENSP00000310244:S314L;ENSP00000388540:S314L;ENSP00000444762:S266L;ENSP00000413105:S314L	ENSP00000310244:S314L	S	-	2	0	RASGRP1	36591122	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	TCG		0.493	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
THBS1	7057	broad.mit.edu	37	15	39874568	39874568	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:39874568C>A	ENST00000260356.5	+	3	407	c.242C>A	c.(241-243)gCt>gAt	p.A81D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	81	Heparin-binding.|Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.A81D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTGGTGGATGCTGTGCGGGCA	0.617																																					p.A81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C242A	15						.						64.0	60.0	62.0					15																	39874568		2200	4297	6497	37661860	SO:0001583	missense	7057	exon3				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.242C>A	15.37:g.39874568C>A	ENSP00000260356:p.Ala81Asp		37661860	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049261	0.55218	.	.	ENSG00000137801	ENST00000260356;ENST00000397591	T;T	0.02177	4.41;4.41	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.35903	N	0.002903	T	0.02848	0.0085	L	0.47716	1.5	0.52501	D	0.999957	P	0.41597	0.756	B	0.34180	0.177	T	0.52268	-0.8598	10	0.62326	D	0.03	-21.8482	13.4254	0.61022	0.0:0.9223:0.0:0.0777	.	81	P07996	TSP1_HUMAN	D	81	ENSP00000260356:A81D;ENSP00000380720:A81D	ENSP00000260356:A81D	A	+	2	0	THBS1	37661860	1.000000	0.71417	0.927000	0.36925	0.660000	0.38997	4.510000	0.60455	2.741000	0.93983	0.563000	0.77884	GCT		0.617	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
THBS1	7057	broad.mit.edu	37	15	39882794	39882794	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:39882794C>T	ENST00000260356.5	+	14	2388	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	741					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.D741D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GTGATGATGACGATGACAATG	0.403																																					p.D741D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2223T	15						.						160.0	149.0	153.0					15																	39882794		2200	4297	6497	37670086	SO:0001819	synonymous_variant	7057	exon14				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2223C>T	15.37:g.39882794C>T			37670086	NM_003246	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	CCDS32194.1																																																																																				0.403	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
FSIP1	161835	broad.mit.edu	37	15	39910236	39910236	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:39910236C>A	ENST00000350221.3	-	11	1608	c.1399G>T	c.(1399-1401)Gat>Tat	p.D467Y		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	467								p.D467Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATATCTGCATCTTCTACCTCA	0.423																																					p.D467Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399T	15						.						150.0	142.0	145.0					15																	39910236		2200	4297	6497	37697528	SO:0001583	missense	161835	exon11			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1399G>T	15.37:g.39910236C>A	ENSP00000280236:p.Asp467Tyr		37697528	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	8.436	0.849790	0.17034	.	.	ENSG00000150667	ENST00000350221	T	0.19938	2.11	4.94	3.06	0.35304	.	0.137395	0.33572	N	0.004779	T	0.27169	0.0666	L	0.32530	0.975	0.09310	N	1	D	0.67145	0.996	D	0.65874	0.939	T	0.02464	-1.1155	9	.	.	.	-3.5571	6.9048	0.24303	0.0:0.6893:0.1475:0.1632	.	467	Q8NA03	FSIP1_HUMAN	Y	467	ENSP00000280236:D467Y	.	D	-	1	0	FSIP1	37697528	0.648000	0.27313	0.007000	0.13788	0.002000	0.02628	1.858000	0.39408	1.450000	0.47717	-0.136000	0.14681	GAT		0.423	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	
FSIP1	161835	broad.mit.edu	37	15	40030386	40030386	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40030386C>A	ENST00000350221.3	-	8	1006	c.797G>T	c.(796-798)aGa>aTa	p.R266I	FSIP1_ENST00000559692.1_5'Flank	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	266								p.R266I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CACTGGGTTTCTTGATTCCTT	0.393																																					p.R266I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G797T	15						.						111.0	116.0	114.0					15																	40030386		2203	4300	6503	37817678	SO:0001583	missense	161835	exon8			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.797G>T	15.37:g.40030386C>A	ENSP00000280236:p.Arg266Ile		37817678	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630058	0.67015	.	.	ENSG00000150667	ENST00000350221	T	0.24350	1.86	6.17	5.08	0.68730	.	0.252307	0.34986	N	0.003529	T	0.32164	0.0820	L	0.44542	1.39	0.31627	N	0.649594	D	0.59767	0.986	P	0.54100	0.742	T	0.16217	-1.0410	9	.	.	.	-16.3769	11.3007	0.49304	0.0:0.9068:0.0:0.0932	.	266	Q8NA03	FSIP1_HUMAN	I	266	ENSP00000280236:R266I	.	R	-	2	0	FSIP1	37817678	0.967000	0.33354	0.866000	0.34008	0.918000	0.54935	1.682000	0.37628	2.941000	0.99782	0.655000	0.94253	AGA		0.393	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	
EIF2AK4	440275	broad.mit.edu	37	15	40265918	40265918	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40265918C>A	ENST00000263791.5	+	11	1829	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.L596I|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.L596I	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	596	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.L596I(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATTACAACTTCTTGGTAAAGG	0.448																																					p.L596I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1786A	15						.						131.0	121.0	124.0					15																	40265918		1886	4111	5997	38053210	SO:0001583	missense	440275	exon11			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1786C>A	15.37:g.40265918C>A	ENSP00000263791:p.Leu596Ile		38053210	NM_001013703	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080573	0.94050	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.30981	1.51;1.51	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	N	0.17872	0.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.41770	-0.9490	10	0.54805	T	0.06	-16.6238	19.8894	0.96925	0.0:1.0:0.0:0.0	.	596;596	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	I	596	ENSP00000263791:L596I;ENSP00000372174:L596I	ENSP00000263791:L596I	L	+	1	0	EIF2AK4	38053210	1.000000	0.71417	0.968000	0.41197	0.982000	0.71751	5.858000	0.69532	2.704000	0.92352	0.586000	0.80456	CTT		0.448	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
EIF2AK4	440275	broad.mit.edu	37	15	40318189	40318189	+	Silent	SNP	C	C	T	rs200983505		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40318189C>T	ENST00000263791.5	+	33	4444	c.4401C>T	c.(4399-4401)ttC>ttT	p.F1467F	EIF2AK4_ENST00000382727.2_Silent_p.F1439F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1467	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.F1467F(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTAAGTCTTTCGAGAAGGAAA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19403	0.001		0.0	False		,,,				2504	0.0				p.F1467F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4401T	15						.						82.0	77.0	78.0					15																	40318189		1938	4141	6079	38105481	SO:0001819	synonymous_variant	440275	exon33			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4401C>T	15.37:g.40318189C>T			38105481	NM_001013703	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	CCDS42016.1																																																																																				0.428	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
BUB1B	701	broad.mit.edu	37	15	40504802	40504802	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40504802G>T	ENST00000287598.6	+	19	2683	c.2488G>T	c.(2488-2490)Gat>Tat	p.D830Y	BUB1B_ENST00000412359.3_Missense_Mutation_p.D844Y	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	830	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D830Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAATATCAAGATGGCTGTAT	0.343			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.D830Y		yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2488T	15						.						113.0	109.0	110.0					15																	40504802		2203	4300	6503	38292094	SO:0001583	missense	701	exon19	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2488G>T	15.37:g.40504802G>T	ENSP00000287598:p.Asp830Tyr		38292094	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325042	0.60634	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.22539	1.95;1.95	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);	0.083241	0.49916	D	0.000128	T	0.44746	0.1308	M	0.77406	2.37	0.41792	D	0.989872	D	0.89917	1.0	D	0.83275	0.996	T	0.46048	-0.9219	10	0.87932	D	0	-18.0252	9.3176	0.37943	0.1584:0.0:0.8416:0.0	.	830	O60566	BUB1B_HUMAN	Y	830;844;713	ENSP00000287598:D830Y;ENSP00000398470:D844Y	ENSP00000287598:D830Y	D	+	1	0	BUB1B	38292094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.217000	0.51184	2.368000	0.80403	0.655000	0.94253	GAT		0.343	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
BUB1B	701	broad.mit.edu	37	15	40512795	40512795	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40512795C>A	ENST00000287598.6	+	23	3183	c.2988C>A	c.(2986-2988)ttC>ttA	p.F996L	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.F1010L|PAK6_ENST00000453867.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	996	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F996L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGAATAAATTCTTTGTGCGGA	0.358			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.F996L		yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2988A	15						.						109.0	111.0	111.0					15																	40512795		2203	4300	6503	38300087	SO:0001583	missense	701	exon23	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2988C>A	15.37:g.40512795C>A	ENSP00000287598:p.Phe996Leu		38300087	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301630	0.60195	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14144	2.54;2.53	5.96	5.04	0.67666	.	0.063133	0.64402	N	0.000003	T	0.09598	0.0236	L	0.41824	1.3	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.08680	-1.0710	10	0.02654	T	1	-8.1168	9.8247	0.40905	0.0:0.8582:0.0:0.1418	.	996	O60566	BUB1B_HUMAN	L	996;1010;879	ENSP00000287598:F996L;ENSP00000398470:F1010L	ENSP00000287598:F996L	F	+	3	2	BUB1B	38300087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.467000	0.35321	2.832000	0.97577	0.655000	0.94253	TTC		0.358	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
DISP2	85455	broad.mit.edu	37	15	40661141	40661141	+	Missense_Mutation	SNP	G	G	A	rs150424497		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40661141G>A	ENST00000267889.3	+	8	2915	c.2828G>A	c.(2827-2829)cGc>cAc	p.R943H	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	943					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.R943H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCAGGCCTCCGCCGTGGTTGG	0.612																																					p.R943H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2828A	15						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	72.0	71.0		2828	1.9	0.0	15	dbSNP_134	71	0,8600		0,0,4300	no	missense	DISP2	NM_033510.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	943/1402	40661141	1,13005	2203	4300	6503	38448433	SO:0001583	missense	85455	exon8			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2828G>A	15.37:g.40661141G>A	ENSP00000267889:p.Arg943His		38448433	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482712	0.12581	2.27E-4	0.0	ENSG00000140323	ENST00000267889	D	0.91996	-2.95	4.85	1.85	0.25348	.	0.439260	0.24808	N	0.035425	D	0.87807	0.6270	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.77493	-0.2567	10	0.44086	T	0.13	-8.3888	6.9909	0.24755	0.5791:0.0:0.4209:0.0	.	943	A7MBM2	DISP2_HUMAN	H	943	ENSP00000267889:R943H	ENSP00000267889:R943H	R	+	2	0	DISP2	38448433	0.002000	0.14202	0.049000	0.19019	0.596000	0.36781	1.657000	0.37366	0.223000	0.20920	0.555000	0.69702	CGC		0.612	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
KNSTRN	90417	broad.mit.edu	37	15	40683721	40683721	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40683721G>A	ENST00000249776.8	+	7	828	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	KNSTRN_ENST00000608100.1_Missense_Mutation_p.R160Q|KNSTRN_ENST00000448395.2_Intron|KNSTRN_ENST00000416151.2_Missense_Mutation_p.R238Q	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.R238Q(1)									CTGGCATCACGACAAGAATCC	0.473																																					p.R238Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	15						.						123.0	115.0	118.0					15																	40683721		2025	4188	6213	38471013	SO:0001583	missense	90417	exon7			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.713G>A	15.37:g.40683721G>A	ENSP00000249776:p.Arg238Gln		38471013	NM_033286		Missense_Mutation	SNP	ENST00000249776.8	37	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	2.375	-0.343359	0.05243	.	.	ENSG00000128944	ENST00000249776;ENST00000416151	T;T	0.20463	2.07;2.07	5.18	-4.78	0.03209	.	1.782710	0.02546	N	0.095169	T	0.07683	0.0193	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42481	-0.9449	10	0.05436	T	0.98	-5.1946	11.7381	0.51778	0.5953:0.0:0.4047:0.0	.	238;238	Q9Y448-2;Q9Y448	.;T4AF1_HUMAN	Q	238	ENSP00000249776:R238Q;ENSP00000391233:R238Q	ENSP00000249776:R238Q	R	+	2	0	C15orf23	38471013	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.158000	0.16422	-1.164000	0.02790	-1.655000	0.00754	CGA		0.473	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761	
CASC5	57082	broad.mit.edu	37	15	40915715	40915715	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40915715G>T	ENST00000346991.5	+	11	3721	c.3331G>T	c.(3331-3333)Gat>Tat	p.D1111Y	CASC5_ENST00000399668.2_Missense_Mutation_p.D1085Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1111	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D1111Y(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCATAAAAATGATATGGATAT	0.358																																					p.D1111Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3331T	15						.						49.0	46.0	47.0					15																	40915715		1813	4070	5883	38703007	SO:0001583	missense	57082	exon11			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3331G>T	15.37:g.40915715G>T	ENSP00000335463:p.Asp1111Tyr		38703007	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059899	0.19987	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.18174	2.23;2.23	5.35	1.28	0.21552	.	0.570461	0.16621	N	0.206461	T	0.14013	0.0339	L	0.49350	1.555	0.09310	N	1	P;B;P	0.42518	0.583;0.352;0.782	B;B;B	0.37650	0.14;0.099;0.255	T	0.12066	-1.0562	10	0.72032	D	0.01	.	6.6517	0.22965	0.2094:0.0:0.6661:0.1245	.	1085;1111;1085	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	Y	1111;1085;1085	ENSP00000335463:D1111Y;ENSP00000382576:D1085Y	ENSP00000260369:D1085Y	D	+	1	0	CASC5	38703007	0.034000	0.19679	0.084000	0.20598	0.131000	0.20780	0.737000	0.26144	0.244000	0.21351	-0.145000	0.13849	GAT		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CASC5	57082	broad.mit.edu	37	15	40939244	40939244	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:40939244C>T	ENST00000346991.5	+	18	6534	c.6144C>T	c.(6142-6144)atC>atT	p.I2048I	CASC5_ENST00000399668.2_Silent_p.I2022I|CTD-2339L15.3_ENST00000559841.1_RNA			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2048	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I2048I(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTAAGAAGATCGATAACTGCC	0.294																																					p.I2048I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6144T	15						.						89.0	90.0	90.0					15																	40939244		1804	4059	5863	38726536	SO:0001819	synonymous_variant	57082	exon18			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6144C>T	15.37:g.40939244C>T			38726536	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																				0.294	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
PPP1R14D	54866	broad.mit.edu	37	15	41120789	41120789	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41120789C>A	ENST00000299174.5	-	1	118	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.E17D	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	17					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.E17D(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TACATGGGTTCTCCCCATCTG	0.557																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G51T	15						.						102.0	87.0	92.0					15																	41120789		2203	4300	6503	38908081	SO:0001583	missense	54866	exon1			AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14953	protein-coding gene	gene with protein product	"""gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein"""	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.51G>T	15.37:g.41120789C>A	ENSP00000299174:p.Glu17Asp		38908081	NM_001130143	Q4V773	Missense_Mutation	SNP	ENST00000299174.5	37	CCDS10066.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700523	0.30142	.	.	ENSG00000166143	ENST00000299174;ENST00000427255	.	.	.	5.67	3.57	0.40892	.	0.263564	0.30076	N	0.010475	T	0.24198	0.0586	N	0.14661	0.345	0.22317	N	0.999201	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.12941	-1.0528	9	0.16896	T	0.51	-10.2342	12.2654	0.54674	0.0:0.5621:0.4378:0.0	.	17;17	E9PAT1;Q9NXH3	.;PP14D_HUMAN	D	17	.	ENSP00000299174:E17D	E	-	3	2	PPP1R14D	38908081	0.996000	0.38824	0.984000	0.44739	0.402000	0.30811	1.320000	0.33666	1.279000	0.44446	0.650000	0.86243	GAG		0.557	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726	
INO80	54617	broad.mit.edu	37	15	41342203	41342203	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41342203G>T	ENST00000361937.3	-	20	2796	c.2372C>A	c.(2371-2373)tCt>tAt	p.S791Y	INO80_ENST00000401393.3_Missense_Mutation_p.S791Y			Q9ULG1	INO80_HUMAN	INO80 complex subunit	791	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S791Y(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGAGCCCATAGAAGACTGCAA	0.433																																					p.S791Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2372A	15						.						154.0	144.0	147.0					15																	41342203		2203	4300	6503	39129495	SO:0001583	missense	54617	exon20			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2372C>A	15.37:g.41342203G>T	ENSP00000355205:p.Ser791Tyr		39129495	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925077	0.92319	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.75938	-0.98;-0.98	5.14	5.14	0.70334	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.89283	0.3613	10	0.72032	D	0.01	.	18.6026	0.91255	0.0:0.0:1.0:0.0	.	791	Q9ULG1	INO80_HUMAN	Y	791	ENSP00000355205:S791Y;ENSP00000384686:S791Y	ENSP00000355205:S791Y	S	-	2	0	INO80	39129495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.852000	0.99516	2.398000	0.81561	0.455000	0.32223	TCT		0.433	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
INO80	54617	broad.mit.edu	37	15	41347469	41347469	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41347469C>T	ENST00000361937.3	-	18	2588	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	INO80_ENST00000401393.3_Missense_Mutation_p.E722K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	722	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E722K(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GATTTGTTTTCGGCATGGCTC	0.373																																					p.E722K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2164A	15						.						144.0	127.0	133.0					15																	41347469		2203	4300	6503	39134761	SO:0001583	missense	54617	exon18			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2164G>A	15.37:g.41347469C>T	ENSP00000355205:p.Glu722Lys		39134761	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266948	0.95399	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93659	-3.26;-3.26	4.71	4.71	0.59529	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	L	0.45051	1.395	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.95987	0.8982	10	0.87932	D	0	.	17.6488	0.88157	0.0:1.0:0.0:0.0	.	722	Q9ULG1	INO80_HUMAN	K	722	ENSP00000355205:E722K;ENSP00000384686:E722K	ENSP00000355205:E722K	E	-	1	0	INO80	39134761	1.000000	0.71417	0.994000	0.49952	0.867000	0.49689	7.805000	0.86005	2.179000	0.69175	0.305000	0.20034	GAA		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
INO80	54617	broad.mit.edu	37	15	41384277	41384277	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41384277C>T	ENST00000361937.3	-	5	909	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	INO80_ENST00000401393.3_Missense_Mutation_p.R162Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	162	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R162Q(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTGTGTAGTCGAAGCATGTT	0.388																																					p.R162Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G485A	15						.						187.0	179.0	182.0					15																	41384277		2203	4300	6503	39171569	SO:0001583	missense	54617	exon5			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.485G>A	15.37:g.41384277C>T	ENSP00000355205:p.Arg162Gln		39171569	NM_017553	A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297118	0.95574	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.92495	-3.05;-3.05	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	M	0.65975	2.015	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.94583	0.7781	10	0.51188	T	0.08	.	19.0939	0.93242	0.0:1.0:0.0:0.0	.	162	Q9ULG1	INO80_HUMAN	Q	162	ENSP00000355205:R162Q;ENSP00000384686:R162Q	ENSP00000355205:R162Q	R	-	2	0	INO80	39171569	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	6.847000	0.75404	2.753000	0.94483	0.455000	0.32223	CGA		0.388	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553	
EXD1	161829	broad.mit.edu	37	15	41488143	41488143	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41488143C>A	ENST00000314992.5	-	6	643	c.453G>T	c.(451-453)aaG>aaT	p.K151N	EXD1_ENST00000458580.2_Missense_Mutation_p.K209N	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	151							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.K151N(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCAAAATTCTCTTGTCTTCTA	0.378																																					p.K151N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G453T	15						.						101.0	101.0	101.0					15																	41488143		2203	4300	6503	39275435	SO:0001583	missense	161829	exon6			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.453G>T	15.37:g.41488143C>A	ENSP00000321029:p.Lys151Asn		39275435	NM_152596	A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142758	0.57044	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.63255	-0.03;-0.03	5.65	-0.0268	0.13929	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.186437	0.45361	D	0.000375	T	0.60287	0.2257	N	0.22421	0.69	0.29340	N	0.866067	D;D	0.65815	0.991;0.995	D;D	0.68039	0.92;0.955	T	0.58451	-0.7634	10	0.42905	T	0.14	-4.4404	9.8561	0.41086	0.0:0.5133:0.0:0.4867	.	209;151	B7Z839;Q8NHP7	.;EXD1_HUMAN	N	151;209	ENSP00000321029:K151N;ENSP00000415056:K209N	ENSP00000321029:K151N	K	-	3	2	EXD1	39275435	0.977000	0.34250	0.998000	0.56505	0.967000	0.64934	0.046000	0.14035	-0.024000	0.13941	0.462000	0.41574	AAG		0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	
NDUFAF1	51103	broad.mit.edu	37	15	41689207	41689207	+	Silent	SNP	G	G	A	rs570752499		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41689207G>A	ENST00000260361.4	-	2	432	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	17					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)	p.F17F(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TTGGCTTAGAGAATTTTCTGA	0.428																																					p.F17F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	15						.						39.0	40.0	40.0					15																	41689207		2202	4300	6502	39476499	SO:0001819	synonymous_variant	51103	exon2			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.51C>T	15.37:g.41689207G>A			39476499	NM_016013	Q9BVZ5	Silent	SNP	ENST00000260361.4	37	CCDS10075.1																																																																																				0.428	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013	
RTF1	23168	broad.mit.edu	37	15	41758426	41758426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41758426C>T	ENST00000389629.4	+	6	877	c.865C>T	c.(865-867)Cga>Tga	p.R289*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	289	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|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)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R164*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAAAGCAGAGCGAGAAAAACG	0.438																																					p.R289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C865T	15						.						118.0	112.0	114.0					15																	41758426		2203	4299	6502	39545718	SO:0001587	stop_gained	23168	exon6			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.865C>T	15.37:g.41758426C>T	ENSP00000374280:p.Arg289*		39545718	NM_015138	Q96BX6	Nonsense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742898	0.89573	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.2	2.01	0.26516	.	0.056732	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4381	13.091	0.59167	0.6621:0.3379:0.0:0.0	.	.	.	.	X	289	.	ENSP00000374280:R289X	R	+	1	2	RTF1	39545718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.109000	0.31135	0.732000	0.32470	0.655000	0.94253	CGA		0.438	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	
RPAP1	26015	broad.mit.edu	37	15	41819230	41819230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41819230G>A	ENST00000304330.4	-	14	1899	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	RPAP1_ENST00000561603.1_Nonsense_Mutation_p.R595*|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	595						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R595*(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGAACTCTCGAACTATAGTC	0.552																																					p.R595X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1783T	15						.						75.0	76.0	76.0					15																	41819230		2203	4300	6503	39606522	SO:0001587	stop_gained	26015	exon14			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1783C>T	15.37:g.41819230G>A	ENSP00000306123:p.Arg595*		39606522	NM_015540	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Nonsense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	39	7.312888	0.98203	.	.	ENSG00000103932	ENST00000304330	.	.	.	5.1	4.18	0.49190	.	0.596334	0.17381	N	0.176305	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6546	10.3736	0.44068	0.0:0.1268:0.681:0.1922	.	.	.	.	X	595	.	ENSP00000306123:R595X	R	-	1	2	RPAP1	39606522	0.944000	0.32072	0.962000	0.40283	0.976000	0.68499	3.630000	0.54273	1.262000	0.44165	-0.300000	0.09419	CGA		0.552	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
TYRO3	7301	broad.mit.edu	37	15	41853455	41853455	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41853455C>A	ENST00000263798.3	+	2	479	c.255C>A	c.(253-255)aaC>aaA	p.N85K	TYRO3_ENST00000559066.1_Missense_Mutation_p.N40K	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	85	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N85K(1)|p.N77K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGTCCAGAACTTGGACCAGT	0.627																																					p.N85K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C255A	15						.						78.0	73.0	74.0					15																	41853455		2203	4300	6503	39640747	SO:0001583	missense	7301	exon2			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.255C>A	15.37:g.41853455C>A	ENSP00000263798:p.Asn85Lys		39640747	NM_006293	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	3.149	-0.174525	0.06421	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.66099	-0.19	4.65	-2.89	0.05665	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.832337	0.10281	N	0.693561	T	0.48241	0.1489	L	0.31926	0.97	0.25265	N	0.989566	B;B	0.24092	0.041;0.097	B;B	0.24701	0.031;0.055	T	0.31668	-0.9935	10	0.29301	T	0.29	-0.7554	12.6631	0.56826	0.0:0.542:0.0:0.458	.	85;146	Q06418;Q59FM9	TYRO3_HUMAN;.	K	17;85	ENSP00000263798:N85K	ENSP00000263798:N85K	N	+	3	2	TYRO3	39640747	0.992000	0.36948	0.000000	0.03702	0.826000	0.46750	0.374000	0.20501	-0.793000	0.04475	-0.404000	0.06349	AAC		0.627	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
MGA	23269	broad.mit.edu	37	15	41991274	41991274	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:41991274G>T	ENST00000570161.1	+	4	2105	c.2105G>T	c.(2104-2106)aGa>aTa	p.R702I	MGA_ENST00000566586.1_Missense_Mutation_p.R702I|MGA_ENST00000219905.7_Missense_Mutation_p.R702I|MGA_ENST00000389936.4_Missense_Mutation_p.R702I|MGA_ENST00000545763.1_Missense_Mutation_p.R702I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R702I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACAGAGCAAGAATTTCCCAG	0.388																																					p.R702I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2105T	15						.						76.0	72.0	73.0					15																	41991274		1829	4083	5912	39778566	SO:0001583	missense	23269	exon5			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2105G>T	15.37:g.41991274G>T	ENSP00000457035:p.Arg702Ile		39778566	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418626	0.42918	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.48201	0.82;0.82;0.82	4.97	4.97	0.65823	.	3.548680	0.00559	N	0.000272	T	0.42653	0.1212	L	0.27053	0.805	0.42050	D	0.991111	P;B	0.34864	0.473;0.005	B;B	0.31751	0.135;0.005	T	0.25950	-1.0117	10	0.87932	D	0	.	12.4016	0.55416	0.0:0.0:0.8323:0.1677	.	702;702	F5H7K2;E7ENI0	.;.	I	702	ENSP00000219905:R702I;ENSP00000374586:R702I;ENSP00000442467:R702I	ENSP00000219905:R702I	R	+	2	0	MGA	39778566	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	3.831000	0.55776	2.323000	0.78572	0.561000	0.74099	AGA		0.388	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MGA	23269	broad.mit.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42021428C>T	ENST00000570161.1	+	10	3724	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1242*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCGAGTTCGAGTATATGA	0.413																																					p.R1242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3724T	15						.						97.0	98.0	98.0					15																	42021428		1908	4126	6034	39808720	SO:0001587	stop_gained	23269	exon11			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3724C>T	15.37:g.42021428C>T	ENSP00000457035:p.Arg1242*		39808720	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	43	10.435664	0.99404	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.65	5.65	0.86999	.	0.308803	0.26757	N	0.022652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.869	0.70441	0.1436:0.8564:0.0:0.0	.	.	.	.	X	1242	.	ENSP00000219905:R1242X	R	+	1	2	MGA	39808720	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.727000	0.38095	2.817000	0.96982	0.563000	0.77884	CGA		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MGA	23269	broad.mit.edu	37	15	42052641	42052641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42052641G>T	ENST00000570161.1	+	19	7312	c.7312G>T	c.(7312-7314)Gaa>Taa	p.E2438*	MGA_ENST00000566586.1_Nonsense_Mutation_p.E2229*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E2438*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2399*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E2229*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.E2487*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCGGCGTGGTGAAATGAGGGA	0.443																																					p.E2438X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7312T	15						.						112.0	112.0	112.0					15																	42052641		1887	4104	5991	39839933	SO:0001587	stop_gained	23269	exon20			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7312G>T	15.37:g.42052641G>T	ENSP00000457035:p.Glu2438*		39839933	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	41	8.820003	0.98966	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	.	.	.	X	2438;2399;2229	.	ENSP00000219905:E2438X	E	+	1	0	MGA	39839933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	GAA		0.443	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MGA	23269	broad.mit.edu	37	15	42058229	42058229	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42058229G>A	ENST00000570161.1	+	23	7949	c.7949G>A	c.(7948-7950)cGa>cAa	p.R2650Q	MGA_ENST00000566586.1_Missense_Mutation_p.R2441Q|MGA_ENST00000219905.7_Missense_Mutation_p.R2650Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2611Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2441Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R2699Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGATGCCACGAATTGTTAAT	0.363																																					p.R2650Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7949A	15						.						88.0	82.0	84.0					15																	42058229		1838	4095	5933	39845521	SO:0001583	missense	23269	exon24			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7949G>A	15.37:g.42058229G>A	ENSP00000457035:p.Arg2650Gln		39845521	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038823	0.75617	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85702	-1.99;-2.01;-2.02	5.08	5.08	0.68730	.	1.089600	0.07268	N	0.868563	D	0.85630	0.5741	N	0.19112	0.55	0.24205	N	0.995491	D;D	0.76494	0.999;0.998	P;P	0.61940	0.896;0.789	T	0.74636	-0.3599	10	0.87932	D	0	.	9.2136	0.37333	0.1625:0.0:0.8375:0.0	.	2441;2650	F5H7K2;E7ENI0	.;.	Q	2650;2611;2441	ENSP00000219905:R2650Q;ENSP00000374586:R2611Q;ENSP00000442467:R2441Q	ENSP00000219905:R2650Q	R	+	2	0	MGA	39845521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.563000	0.53784	2.793000	0.96121	0.655000	0.94253	CGA		0.363	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
SPTBN5	51332	broad.mit.edu	37	15	42144838	42144838	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42144838C>A	ENST00000320955.6	-	61	10670	c.10443G>T	c.(10441-10443)aaG>aaT	p.K3481N	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3481					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.K3481N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCACCTCTGTCTTTTGCATTT	0.587																																					p.K3446N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10338T	15						.						139.0	157.0	151.0					15																	42144838		2136	4225	6361	39932130	SO:0001583	missense	51332	exon61			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10443G>T	15.37:g.42144838C>A	ENSP00000317790:p.Lys3481Asn		39932130	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.47	1.946771	0.34377	.	.	ENSG00000137877	ENST00000320955	T	0.67345	-0.26	4.21	2.28	0.28536	.	0.767535	0.11766	N	0.531614	T	0.61261	0.2333	L	0.47716	1.5	0.20975	N	0.999815	B	0.32010	0.351	B	0.37780	0.258	T	0.54050	-0.8351	10	0.51188	T	0.08	.	8.3117	0.32075	0.0:0.7534:0.1573:0.0893	.	3481	Q9NRC6	SPTN5_HUMAN	N	3481	ENSP00000317790:K3481N	ENSP00000317790:K3481N	K	-	3	2	SPTBN5	39932130	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.041000	0.12084	0.396000	0.25283	0.655000	0.94253	AAG		0.587	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
SPTBN5	51332	broad.mit.edu	37	15	42155977	42155977	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42155977C>A	ENST00000320955.6	-	41	7301	c.7074G>T	c.(7072-7074)caG>caT	p.Q2358H	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2358					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.Q2358H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTCGAGCTGCTGCTGGTACC	0.602																																					p.Q2323H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6969T	15						.						92.0	102.0	99.0					15																	42155977		2115	4216	6331	39943269	SO:0001583	missense	51332	exon41			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7074G>T	15.37:g.42155977C>A	ENSP00000317790:p.Gln2358His		39943269	NM_016642		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.52	1.961191	0.34565	.	.	ENSG00000137877	ENST00000320955	T	0.52983	0.64	4.75	3.57	0.40892	.	0.444925	0.20269	N	0.095702	T	0.53932	0.1827	M	0.62723	1.935	0.23834	N	0.996716	P	0.48998	0.918	P	0.57548	0.823	T	0.47971	-0.9075	10	0.56958	D	0.05	.	4.1529	0.10247	0.0:0.67:0.0:0.3299	.	2358	Q9NRC6	SPTN5_HUMAN	H	2358	ENSP00000317790:Q2358H	ENSP00000317790:Q2358H	Q	-	3	2	SPTBN5	39943269	0.680000	0.27605	0.999000	0.59377	0.155000	0.21991	0.865000	0.27940	2.362000	0.80069	0.561000	0.74099	CAG		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
EHD4	30844	broad.mit.edu	37	15	42192924	42192924	+	Silent	SNP	G	G	A	rs141440763		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42192924G>A	ENST00000220325.4	-	6	1628	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	515	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.L515L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CGTAGCCGTCGAGCTTGATCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16017	0.0		0.001	False		,,,				2504	0.0				p.L515L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1545T	15						.						44.0	40.0	41.0					15																	42192924		2203	4299	6502	39980216	SO:0001819	synonymous_variant	30844	exon6			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1545C>T	15.37:g.42192924G>A			39980216	NM_139265	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.662	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
PLA2G4E	123745	broad.mit.edu	37	15	42281633	42281633	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42281633G>T	ENST00000399518.3	-	15	2189	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.S539Y|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	556	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.S539Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCAGATTCGAGACTCCGGGAT	0.617											OREG0023079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S539Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1616A	15						.						44.0	51.0	49.0					15																	42281633		2192	4296	6488	40068925	SO:0001583	missense	123745	exon14				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1703C>A	15.37:g.42281633G>T	ENSP00000382434:p.Ser568Tyr	907	40068925	NM_001080490	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609796	0.87258	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.11277	2.79;2.79	5.76	5.76	0.90799	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.296718	0.33092	N	0.005297	T	0.33962	0.0881	M	0.69463	2.115	0.32085	N	0.592646	P;D	0.76494	0.868;0.999	P;D	0.76071	0.755;0.987	T	0.19976	-1.0289	10	0.87932	D	0	-4.1611	18.733	0.91742	0.0:0.0:1.0:0.0	.	539;556	C9JK77;Q3MJ16	.;PA24E_HUMAN	Y	568;539	ENSP00000382434:S568Y;ENSP00000413897:S539Y	ENSP00000382434:S568Y	S	-	2	0	PLA2G4E	40068925	1.000000	0.71417	0.934000	0.37439	0.946000	0.59487	5.322000	0.65852	2.724000	0.93272	0.561000	0.74099	TCT		0.617	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	
PLA2G4E	123745	broad.mit.edu	37	15	42282432	42282432	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42282432C>A	ENST00000399518.3	-	14	1958	c.1472G>T	c.(1471-1473)aGa>aTa	p.R491I	PLA2G4E_ENST00000413860.2_Splice_Site_p.R462I|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	479	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.R462I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCATTCATTTCTCTGTGGGGA	0.522																																					p.R462I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1385T	15						.						130.0	137.0	135.0					15																	42282432		2051	4208	6259	40069724	SO:0001630	splice_region_variant	123745	exon13				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.1471-1G>T	15.37:g.42282432C>A			40069724	NM_001080490	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455858	0.43634	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.12361	2.69;2.69	5.42	-1.2	0.09554	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.258918	0.36167	N	0.002746	T	0.10208	0.0250	L	0.35341	1.055	0.80722	D	1	B;B	0.30605	0.287;0.04	B;B	0.33121	0.158;0.158	T	0.14172	-1.0482	10	0.51188	T	0.08	-0.5052	10.3662	0.44026	0.0:0.3036:0.0:0.6964	.	462;479	C9JK77;Q3MJ16	.;PA24E_HUMAN	I	491;462	ENSP00000382434:R491I;ENSP00000413897:R462I	ENSP00000382434:R491I	R	-	2	0	PLA2G4E	40069724	0.030000	0.19436	0.979000	0.43373	0.710000	0.40934	-0.130000	0.10498	-0.021000	0.14009	0.655000	0.94253	AGA		0.522	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	Missense_Mutation
PLA2G4E	123745	broad.mit.edu	37	15	42293407	42293407	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42293407G>T	ENST00000399518.3	-	7	1107	c.621C>A	c.(619-621)gtC>gtA	p.V207V	PLA2G4E_ENST00000413860.2_Silent_p.V178V|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	198					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.V178V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCAGGCAGGAGACTTGTCGAG	0.552																																					p.V178V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	15						.						77.0	83.0	81.0					15																	42293407		1954	4161	6115	40080699	SO:0001819	synonymous_variant	123745	exon6				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.621C>A	15.37:g.42293407G>T			40080699	NM_001080490	Q6ZSC0	Silent	SNP	ENST00000399518.3	37	CCDS55962.1																																																																																				0.552	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	
PLA2G4F	255189	broad.mit.edu	37	15	42437840	42437840	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42437840G>T	ENST00000382396.4	-	16	1799	c.1713C>A	c.(1711-1713)atC>atA	p.I571I	PLA2G4F_ENST00000397272.3_Silent_p.I573I			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	571	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.I571I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCTTTAGGAAGATCTCATCCA	0.652																																					p.I571I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1713A	15						.						82.0	88.0	86.0					15																	42437840		2203	4299	6502	40225132	SO:0001819	synonymous_variant	255189	exon16				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1713C>A	15.37:g.42437840G>T			40225132	NM_213600	Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.652	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600	
GANC	2595	broad.mit.edu	37	15	42598779	42598779	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42598779A>C	ENST00000318010.8	+	7	834	c.594A>C	c.(592-594)aaA>aaC	p.K198N	GANC_ENST00000566442.1_Missense_Mutation_p.K198N	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	198					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.K198N(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGGAAGAGAAATTTGGAAAAT	0.318																																					p.K198N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A594C	15						.						86.0	87.0	87.0					15																	42598779		2203	4299	6502	40386071	SO:0001583	missense	2595	exon7			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.594A>C	15.37:g.42598779A>C	ENSP00000326227:p.Lys198Asn		40386071	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943936	0.34283	.	.	ENSG00000214013	ENST00000318010	T	0.18016	2.24	5.51	4.39	0.52855	Glycoside hydrolase-type carbohydrate-binding (1);	0.209202	0.44285	D	0.000463	T	0.10508	0.0257	L	0.27053	0.805	0.34023	D	0.652846	B;B	0.21753	0.002;0.06	B;B	0.25987	0.01;0.065	T	0.18524	-1.0334	10	0.13853	T	0.58	-18.4478	6.9638	0.24611	0.7739:0.1507:0.0754:0.0	.	198;198	Q8TET4;Q2M2A3	GANC_HUMAN;.	N	198	ENSP00000326227:K198N	ENSP00000326227:K198N	K	+	3	2	GANC	40386071	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.913000	0.39956	2.097000	0.63578	0.523000	0.50628	AAA		0.318	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	
CAPN3	825	broad.mit.edu	37	15	42682159	42682159	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42682159G>A	ENST00000397163.3	+	6	1029	c.810G>A	c.(808-810)acG>acA	p.T270T	CAPN3_ENST00000356316.3_Silent_p.T183T|CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000318023.7_Silent_p.T270T|CAPN3_ENST00000357568.3_Silent_p.T270T|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	270	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T270T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGGATGGCACGAACATGACCT	0.512																																					p.T183T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G549A	15						.						114.0	90.0	98.0					15																	42682159		2203	4299	6502	40469451	SO:0001819	synonymous_variant	825	exon10			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.810G>A	15.37:g.42682159G>A			40469451	NM_212465	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																				0.512	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
ZNF106	64397	broad.mit.edu	37	15	42717043	42717043	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42717043G>T	ENST00000263805.4	-	13	5436	c.5110C>A	c.(5110-5112)Ctt>Att	p.L1704I	RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565660.1_5'Flank|ZNF106_ENST00000565380.1_Missense_Mutation_p.L932I|ZNF106_ENST00000565611.1_Missense_Mutation_p.L889I	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1704					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1704I(1)									TTCATGCAAAGAATGGTTTTG	0.517																																					p.L1704I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5110A	15						.						71.0	58.0	62.0					15																	42717043		2203	4299	6502	40504335	SO:0001583	missense	64397	exon13			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5110C>A	15.37:g.42717043G>T	ENSP00000263805:p.Leu1704Ile		40504335	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595564	0.66219	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.60797	0.16	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.76929	-0.2777	10	0.72032	D	0.01	-14.4556	19.4586	0.94906	0.0:0.0:1.0:0.0	.	932;1704;932	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	I	1704;932	ENSP00000263805:L1704I	ENSP00000263805:L1704I	L	-	1	0	ZFP106	40504335	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.446000	0.80609	2.828000	0.97474	0.655000	0.94253	CTT		0.517	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
ZNF106	64397	broad.mit.edu	37	15	42742459	42742459	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:42742459G>A	ENST00000263805.4	-	2	2268	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	648					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R648C(1)									TCTTTCTGGCGAACTATGGGA	0.463																																					p.R648C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1942T	15						.						168.0	175.0	173.0					15																	42742459		2203	4299	6502	40529751	SO:0001583	missense	64397	exon2			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1942C>T	15.37:g.42742459G>A	ENSP00000263805:p.Arg648Cys		40529751	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	1.942	-0.443244	0.04604	.	.	ENSG00000103994	ENST00000263805	T	0.25085	1.82	5.14	3.25	0.37280	.	1.202190	0.05760	N	0.604768	T	0.16085	0.0387	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25641	-1.0126	10	0.37606	T	0.19	0.8339	10.5049	0.44828	0.0748:0.3078:0.6174:0.0	.	431;648	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	C	648	ENSP00000263805:R648C	ENSP00000263805:R648C	R	-	1	0	ZFP106	40529751	0.000000	0.05858	0.003000	0.11579	0.189000	0.23516	0.044000	0.13992	0.856000	0.35383	-0.850000	0.03035	CGC		0.463	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
CDAN1	146059	broad.mit.edu	37	15	43028262	43028262	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43028262C>T	ENST00000356231.3	-	3	607	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	195	Interaction with ASF1A/B.				chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R195H(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTTGATCCTGCGAGAAGGCTT	0.552																																					p.R195H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G584A	15						.						82.0	94.0	90.0					15																	43028262		2203	4299	6502	40815554	SO:0001583	missense	146059	exon3			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.584G>A	15.37:g.43028262C>T	ENSP00000348564:p.Arg195His		40815554	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624963	0.96660	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.94417	-3.42	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.96747	0.8938	L	0.61218	1.895	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.97038	0.9755	10	0.66056	D	0.02	-14.8053	18.6674	0.91495	0.0:1.0:0.0:0.0	.	195	Q8IWY9	CDAN1_HUMAN	H	195;226	ENSP00000348564:R195H	ENSP00000267892:R226H	R	-	2	0	CDAN1	40815554	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.292000	0.78731	2.579000	0.87056	0.462000	0.41574	CGC		0.552	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	
TTBK2	146057	broad.mit.edu	37	15	43044954	43044954	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43044954A>C	ENST00000267890.6	-	14	2598	c.2490T>G	c.(2488-2490)acT>acG	p.T830T		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	830					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T830T(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCACACTAAAAGTCTGTGTTT	0.393																																					p.T830T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2490G	15						.						113.0	101.0	105.0					15																	43044954		1849	4095	5944	40832246	SO:0001819	synonymous_variant	146057	exon14			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2490T>G	15.37:g.43044954A>C			40832246	NM_173500	O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	CCDS42029.1																																																																																				0.393	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TTBK2	146057	broad.mit.edu	37	15	43045124	43045124	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43045124G>T	ENST00000267890.6	-	14	2428	c.2320C>A	c.(2320-2322)Cct>Act	p.P774T		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	774					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P774T(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTTTCCCCAGGGAGATTTTCA	0.403																																					p.P774T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2320A	15						.						181.0	167.0	171.0					15																	43045124		1840	4080	5920	40832416	SO:0001583	missense	146057	exon14			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2320C>A	15.37:g.43045124G>T	ENSP00000267890:p.Pro774Thr		40832416	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845477	0.51164	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.40756	1.02	5.73	5.73	0.89815	.	0.293677	0.33834	N	0.004503	T	0.54983	0.1892	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.989;0.981	P;P	0.58266	0.836;0.69	T	0.57004	-0.7885	10	0.87932	D	0	.	12.408	0.55451	0.0769:0.0:0.9231:0.0	.	705;774	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	T	774;704;1179	ENSP00000267890:P774T	ENSP00000263802:P1179T	P	-	1	0	TTBK2	40832416	1.000000	0.71417	0.978000	0.43139	0.796000	0.44982	1.759000	0.38420	2.698000	0.92095	0.655000	0.94253	CCT		0.403	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
TTBK2	146057	broad.mit.edu	37	15	43067514	43067514	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43067514T>G	ENST00000267890.6	-	13	1925	c.1817A>C	c.(1816-1818)aAt>aCt	p.N606T		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	606					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N606T(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAAATGATCATTTTCTGCCCA	0.458																																					p.N606T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1817C	15						.						120.0	115.0	116.0					15																	43067514		1878	4105	5983	40854806	SO:0001583	missense	146057	exon13			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1817A>C	15.37:g.43067514T>G	ENSP00000267890:p.Asn606Thr		40854806	NM_173500	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358831	0.41801	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.38887	1.11	5.77	2.24	0.28232	.	0.327328	0.31949	N	0.006819	T	0.34919	0.0914	L	0.50333	1.59	0.49483	D	0.99979	B;B	0.18741	0.021;0.03	B;B	0.21151	0.033;0.022	T	0.19224	-1.0312	10	0.72032	D	0.01	.	8.2601	0.31779	0.0:0.2369:0.0:0.7631	.	537;606	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	T	606;536;1011	ENSP00000267890:N606T	ENSP00000263802:N1011T	N	-	2	0	TTBK2	40854806	0.992000	0.36948	0.958000	0.39756	0.994000	0.84299	2.287000	0.43505	0.451000	0.26802	0.528000	0.53228	AAT		0.458	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500	
UBR1	197131	broad.mit.edu	37	15	43309362	43309362	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43309362C>T	ENST00000290650.4	-	28	3036	c.2958G>A	c.(2956-2958)aaG>aaA	p.K986K	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'Flank	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	986					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K986K(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTCTTAATCGCTTCACTGTGT	0.348																																					p.K986K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2958A	15						.						136.0	119.0	124.0					15																	43309362		2202	4299	6501	41096654	SO:0001819	synonymous_variant	197131	exon28				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2958G>A	15.37:g.43309362C>T			41096654	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	CCDS10091.1																																																																																				0.348	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
UBR1	197131	broad.mit.edu	37	15	43339398	43339398	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43339398C>A	ENST00000290650.4	-	14	1707	c.1629G>T	c.(1627-1629)aaG>aaT	p.K543N	UBR1_ENST00000382177.2_Missense_Mutation_p.K543N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	543					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K543N(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GTAAAATATTCTTCAATTGCA	0.373																																					p.K543N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1629T	15						.						222.0	206.0	211.0					15																	43339398		2203	4299	6502	41126690	SO:0001583	missense	197131	exon14				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1629G>T	15.37:g.43339398C>A	ENSP00000290650:p.Lys543Asn		41126690	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579240	0.46006	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.49432	0.78;0.78	4.61	1.61	0.23674	.	0.061083	0.64402	D	0.000007	T	0.35219	0.0924	L	0.53249	1.67	0.45515	D	0.998477	B;P	0.38922	0.286;0.651	B;B	0.35550	0.042;0.205	T	0.08310	-1.0728	10	0.19590	T	0.45	-8.1849	8.3246	0.32149	0.0:0.6619:0.0:0.3381	.	543;543	B4DYL2;Q8IWV7	.;UBR1_HUMAN	N	543	ENSP00000290650:K543N;ENSP00000371612:K543N	ENSP00000290650:K543N	K	-	3	2	UBR1	41126690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.774000	0.26675	0.629000	0.30376	0.557000	0.71058	AAG		0.373	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
UBR1	197131	broad.mit.edu	37	15	43339471	43339471	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43339471C>A	ENST00000290650.4	-	14	1634	c.1556G>T	c.(1555-1557)cGa>cTa	p.R519L	UBR1_ENST00000382177.2_Missense_Mutation_p.R519L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	519					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R519L(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACCTGTCTTCGGATTTCTTC	0.428																																					p.R519L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1556T	15						.						246.0	223.0	231.0					15																	43339471		2203	4299	6502	41126763	SO:0001583	missense	197131	exon14				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1556G>T	15.37:g.43339471C>A	ENSP00000290650:p.Arg519Leu		41126763	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000610	0.35320	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.45276	0.9;0.9	4.61	3.68	0.42216	.	0.171941	0.51477	D	0.000085	T	0.21267	0.0512	N	0.12961	0.28	0.33822	D	0.629138	B;B	0.31318	0.014;0.319	B;B	0.26094	0.007;0.066	T	0.21075	-1.0256	10	0.32370	T	0.25	-4.193	7.5155	0.27598	0.0:0.8181:0.0:0.1819	.	519;519	B4DYL2;Q8IWV7	.;UBR1_HUMAN	L	519	ENSP00000290650:R519L;ENSP00000371612:R519L	ENSP00000290650:R519L	R	-	2	0	UBR1	41126763	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.691000	0.54720	2.557000	0.86248	0.557000	0.71058	CGA		0.428	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
UBR1	197131	broad.mit.edu	37	15	43340621	43340621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43340621C>T	ENST00000290650.4	-	13	1586	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q	UBR1_ENST00000382177.2_Missense_Mutation_p.R503Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	503					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R503Q(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAAAAAGATCGAAAACCTTC	0.303																																					p.R503Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508A	15						.						63.0	61.0	62.0					15																	43340621		2202	4294	6496	41127913	SO:0001583	missense	197131	exon13				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1508G>A	15.37:g.43340621C>T	ENSP00000290650:p.Arg503Gln		41127913	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765577	0.31228	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.48836	0.8;0.8	5.02	5.02	0.67125	.	0.321395	0.27294	N	0.020028	T	0.29126	0.0724	L	0.42686	1.345	0.33215	D	0.553939	B;P	0.40066	0.023;0.701	B;B	0.27887	0.007;0.084	T	0.34675	-0.9819	10	0.13470	T	0.59	-19.5094	8.0336	0.30480	0.1705:0.7473:0.0:0.0822	.	503;503	B4DYL2;Q8IWV7	.;UBR1_HUMAN	Q	503	ENSP00000290650:R503Q;ENSP00000371612:R503Q	ENSP00000290650:R503Q	R	-	2	0	UBR1	41127913	0.957000	0.32711	1.000000	0.80357	0.996000	0.88848	1.082000	0.30803	2.608000	0.88229	0.462000	0.41574	CGA		0.303	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
CCNDBP1	23582	broad.mit.edu	37	15	43482296	43482296	+	Silent	SNP	C	C	T	rs200360244		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43482296C>T	ENST00000300213.4	+	5	617	c.375C>T	c.(373-375)atC>atT	p.I125I	CCNDBP1_ENST00000356633.5_Intron|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	125	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I125I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CCCTGGACATCGTGGATGGCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20081	0.001		0.0	False		,,,				2504	0.0				p.I125I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	15						.						89.0	78.0	82.0					15																	43482296		2203	4299	6502	41269588	SO:0001819	synonymous_variant	23582	exon5			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.375C>T	15.37:g.43482296C>T			41269588	NM_012142	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.522	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142	
CCNDBP1	23582	broad.mit.edu	37	15	43483788	43483788	+	Missense_Mutation	SNP	C	C	T	rs200466580	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43483788C>T	ENST00000300213.4	+	8	1017	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.R98W|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	259	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R259W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GAAGAAAATTCGGATGTTAGT	0.498																																					p.R131W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391T	15						.						92.0	84.0	86.0					15																	43483788		2203	4299	6502	41271080	SO:0001583	missense	23582	exon6			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.775C>T	15.37:g.43483788C>T	ENSP00000300213:p.Arg259Trp		41271080	NM_037370	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP	ENST00000300213.4	37	CCDS10092.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702778	0.48307	.	.	ENSG00000166946	ENST00000300213;ENST00000356633;ENST00000444658	T;T	0.45668	0.89;0.89	5.35	3.31	0.37934	.	0.290713	0.29551	N	0.011825	T	0.58850	0.2151	M	0.65975	2.015	0.38720	D	0.95342	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64127	-0.6480	10	0.62326	D	0.03	-29.9893	10.1209	0.42621	0.3882:0.6118:0.0:0.0	.	259;259;131	O95273-2;O95273;O95273-4	.;CCDB1_HUMAN;.	W	259;98;131	ENSP00000300213:R259W;ENSP00000349047:R98W	ENSP00000300213:R259W	R	+	1	2	CCNDBP1	41271080	0.992000	0.36948	0.991000	0.47740	0.971000	0.66376	1.009000	0.29886	1.467000	0.48044	0.555000	0.69702	CGG		0.498	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142	
CCNDBP1	23582	broad.mit.edu	37	15	43484994	43484994	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43484994G>A	ENST00000300213.4	+	9	1156	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.R144Q|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	305	Interaction with RPLP0.|Interaction with TCF3.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R305Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CTGACCGTGCGAATCAATGTA	0.388																																					p.R177Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	15						.						191.0	163.0	172.0					15																	43484994		2203	4299	6502	41272286	SO:0001583	missense	23582	exon7			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.914G>A	15.37:g.43484994G>A	ENSP00000300213:p.Arg305Gln		41272286	NM_037370	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Missense_Mutation	SNP	ENST00000300213.4	37	CCDS10092.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759364	0.89932	.	.	ENSG00000166946	ENST00000300213;ENST00000356633;ENST00000444658	T;T	0.49432	0.78;0.78	5.42	5.42	0.78866	.	0.270197	0.32328	N	0.006259	T	0.67154	0.2863	M	0.72894	2.215	0.46376	D	0.999019	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.995	T	0.67118	-0.5751	10	0.52906	T	0.07	-16.9662	14.5872	0.68335	0.0:0.0:1.0:0.0	.	305;305;177	O95273-2;O95273;O95273-4	.;CCDB1_HUMAN;.	Q	305;144;177	ENSP00000300213:R305Q;ENSP00000349047:R144Q	ENSP00000300213:R305Q	R	+	2	0	CCNDBP1	41272286	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.222000	0.65277	2.820000	0.97059	0.650000	0.86243	CGA		0.388	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1	NM_012142	
TGM5	9333	broad.mit.edu	37	15	43527765	43527765	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43527765A>G	ENST00000220420.5	-	10	1623	c.1616T>C	c.(1615-1617)cTc>cCc	p.L539P	TGM5_ENST00000349114.4_Missense_Mutation_p.L457P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	539					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L539P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTTCACTTTGAGGTCCTTGAA	0.552																																					p.L457P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1370C	15						.						89.0	67.0	75.0					15																	43527765		2203	4299	6502	41315057	SO:0001583	missense	9333	exon9			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1616T>C	15.37:g.43527765A>G	ENSP00000220420:p.Leu539Pro		41315057	NM_004245	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882739	0.72410	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.69435	-0.4;-0.4	5.05	5.05	0.67936	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.224065	0.37012	N	0.002283	T	0.79896	0.4525	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82214	-0.0568	10	0.87932	D	0	-26.4775	12.7913	0.57534	1.0:0.0:0.0:0.0	.	457;539	O43548-2;O43548	.;TGM5_HUMAN	P	539;457;538	ENSP00000220420:L539P;ENSP00000220419:L457P	ENSP00000220420:L539P	L	-	2	0	TGM5	41315057	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.831000	0.69330	2.126000	0.65437	0.533000	0.62120	CTC		0.552	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TGM5	9333	broad.mit.edu	37	15	43531034	43531034	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43531034C>A	ENST00000220420.5	-	9	1333	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	TGM5_ENST00000349114.4_Missense_Mutation_p.E360D	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	442					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.E442D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACTTGTAGTTCTCTGTGATGT	0.537																																					p.E360D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1080T	15						.						156.0	126.0	136.0					15																	43531034		2203	4299	6502	41318326	SO:0001583	missense	9333	exon8			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1326G>T	15.37:g.43531034C>A	ENSP00000220420:p.Glu442Asp		41318326	NM_004245	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	0.693	-0.793903	0.02862	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.21932	1.98;1.98	5.66	3.76	0.43208	.	0.348813	0.30686	N	0.009084	T	0.09598	0.0236	N	0.17922	0.545	0.22975	N	0.998481	B;P	0.38395	0.014;0.629	B;B	0.36134	0.032;0.218	T	0.19386	-1.0307	10	0.07644	T	0.81	-31.1267	5.1419	0.14963	0.1631:0.6603:0.0:0.1766	.	360;442	O43548-2;O43548	.;TGM5_HUMAN	D	442;360;441	ENSP00000220420:E442D;ENSP00000220419:E360D	ENSP00000220420:E442D	E	-	3	2	TGM5	41318326	0.000000	0.05858	0.998000	0.56505	0.695000	0.40330	-0.499000	0.06413	0.724000	0.32296	0.467000	0.42956	GAG		0.537	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TGM5	9333	broad.mit.edu	37	15	43552322	43552322	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43552322C>T	ENST00000220420.5	-	3	371	c.364G>A	c.(364-366)Gac>Aac	p.D122N	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	122					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D122N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGGAAGGAGTCGATGTGGATT	0.622																																					p.D122N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	15						.						67.0	76.0	73.0					15																	43552322		2202	4299	6501	41339614	SO:0001583	missense	9333	exon3			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.364G>A	15.37:g.43552322C>T	ENSP00000220420:p.Asp122Asn		41339614	NM_201631	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409546	0.42715	.	.	ENSG00000104055	ENST00000220420;ENST00000396996	D	0.88741	-2.42	5.33	1.18	0.20946	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.676625	0.13501	N	0.383269	T	0.82033	0.4949	L	0.40543	1.245	0.09310	N	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.68318	-0.5440	10	0.40728	T	0.16	-10.9998	7.8005	0.29172	0.0:0.5493:0.0:0.4507	.	122	O43548	TGM5_HUMAN	N	122;121	ENSP00000220420:D122N	ENSP00000220420:D122N	D	-	1	0	TGM5	41339614	0.000000	0.05858	0.039000	0.18376	0.927000	0.56198	0.721000	0.25911	0.025000	0.15241	0.655000	0.94253	GAC		0.622	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TGM7	116179	broad.mit.edu	37	15	43569159	43569159	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43569159C>A	ENST00000452443.2	-	12	1878	c.1874G>T	c.(1873-1875)aGa>aTa	p.R625I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	625					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R625I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACATGGACTCTCAGCGCCTT	0.567																																					p.R625I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874T	15						.						131.0	112.0	118.0					15																	43569159		2202	4299	6501	41356451	SO:0001583	missense	116179	exon12			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1874G>T	15.37:g.43569159C>A	ENSP00000389466:p.Arg625Ile		41356451	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	8.717	0.913479	0.17907	.	.	ENSG00000159495	ENST00000452443	T	0.68479	-0.33	4.73	-0.261	0.12963	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.871572	0.10165	N	0.707802	T	0.46678	0.1405	N	0.24115	0.695	0.09310	N	1	P	0.35821	0.523	B	0.35859	0.212	T	0.33111	-0.9881	10	0.41790	T	0.15	0.0626	3.9871	0.09521	0.1737:0.3255:0.0:0.5008	.	625	Q96PF1	TGM7_HUMAN	I	625	ENSP00000389466:R625I	ENSP00000389466:R625I	R	-	2	0	TGM7	41356451	0.000000	0.05858	0.009000	0.14445	0.487000	0.33371	-1.272000	0.02826	-0.088000	0.12506	0.585000	0.79938	AGA		0.567	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
TGM7	116179	broad.mit.edu	37	15	43571406	43571406	+	Missense_Mutation	SNP	C	C	T	rs199638924	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43571406C>T	ENST00000452443.2	-	11	1752	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	583					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R583H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCCAGACACGCGGATGAGCTT	0.512													C|||	3	0.000599042	0.0015	0.0	5008	,	,		20405	0.0		0.001	False		,,,				2504	0.0				p.R583H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1748A	15						.	C	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	96.0	81.0	86.0		1748	4.5	0.9	15	dbSNP_134	86	0,8598		0,0,4299	yes	missense	TGM7	NM_052955.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	583/711	43571406	1,13001	2202	4299	6501	41358698	SO:0001583	missense	116179	exon11			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1748G>A	15.37:g.43571406C>T	ENSP00000389466:p.Arg583His		41358698	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	15.90	2.969130	0.53614	2.27E-4	0.0	ENSG00000159495	ENST00000452443	T	0.34072	1.38	5.42	4.49	0.54785	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.180300	0.49916	N	0.000139	T	0.29491	0.0735	L	0.47716	1.5	0.32470	N	0.54287	B	0.27068	0.167	B	0.17098	0.017	T	0.35798	-0.9774	10	0.38643	T	0.18	-2.9555	10.5236	0.44934	0.0:0.9098:0.0:0.0902	.	583	Q96PF1	TGM7_HUMAN	H	583	ENSP00000389466:R583H	ENSP00000389466:R583H	R	-	2	0	TGM7	41358698	0.601000	0.26907	0.894000	0.35097	0.919000	0.55068	0.849000	0.27723	1.256000	0.44068	0.655000	0.94253	CGC		0.512	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
ZSCAN29	146050	broad.mit.edu	37	15	43653653	43653653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43653653C>A	ENST00000396976.2	-	5	2311	c.2177G>T	c.(2176-2178)aGa>aTa	p.R726I	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R336I|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R337I	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	726					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.R726I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGTGTGGATTCTCCTATGGGT	0.433																																					p.R726I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2177T	15						.						74.0	72.0	73.0					15																	43653653		2201	4299	6500	41440945	SO:0001583	missense	146050	exon5			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.2177G>T	15.37:g.43653653C>A	ENSP00000380174:p.Arg726Ile		41440945	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938353	0.73557	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.02446	4.29;4.29	5.17	5.17	0.71159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	T	0.17152	0.0412	M	0.82716	2.605	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.83275	0.969;0.996	T	0.00069	-1.2136	10	0.59425	D	0.04	-14.8354	16.2243	0.82283	0.0:1.0:0.0:0.0	.	337;726	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	I	726;337	ENSP00000380174:R726I;ENSP00000380170:R337I	ENSP00000380170:R337I	R	-	2	0	ZSCAN29	41440945	0.029000	0.19370	1.000000	0.80357	0.998000	0.95712	3.012000	0.49575	2.683000	0.91414	0.655000	0.94253	AGA		0.433	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ZSCAN29	146050	broad.mit.edu	37	15	43656386	43656386	+	Missense_Mutation	SNP	G	G	A	rs369750925		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43656386G>A	ENST00000396976.2	-	4	1551	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R472W|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	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.R473W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TTAACTTTCCGATAGCTGGTT	0.517																																					p.R473W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1417T	15						.	G	TRP/ARG	0,4402		0,0,2201	101.0	97.0	98.0		1417	5.2	1.0	15		98	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZSCAN29	NM_152455.3	101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	473/853	43656386	1,12999	2201	4299	6500	41443678	SO:0001583	missense	146050	exon4			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1417C>T	15.37:g.43656386G>A	ENSP00000380174:p.Arg473Trp		41443678	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252058	0.59212	0.0	1.16E-4	ENSG00000140265	ENST00000396976	T	0.51574	0.7	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000011	T	0.67468	0.2896	M	0.66939	2.045	0.80722	D	1	P;D	0.89917	0.928;1.0	P;D	0.87578	0.565;0.998	T	0.69847	-0.5034	10	0.87932	D	0	-12.0277	16.3111	0.82872	0.0:0.0:1.0:0.0	.	472;473	C9K0J8;Q8IWY8	.;ZSC29_HUMAN	W	473	ENSP00000380174:R473W	ENSP00000380174:R473W	R	-	1	2	ZSCAN29	41443678	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.047000	0.41269	2.715000	0.92844	0.655000	0.94253	CGG		0.517	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
TP53BP1	7158	broad.mit.edu	37	15	43701248	43701248	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43701248C>T	ENST00000263801.3	-	26	5684	c.5432G>A	c.(5431-5433)cGa>cAa	p.R1811Q	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1816Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1766Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1814Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1811Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCCGGGTTCGACAATGCTG	0.498								Other conserved DNA damage response genes																													p.R1811Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5432A	15						.						147.0	111.0	123.0					15																	43701248		2201	4298	6499	41488540	SO:0001583	missense	7158	exon26			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5432G>A	15.37:g.43701248C>T	ENSP00000263801:p.Arg1811Gln		41488540	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.633542|5.633542	0.96682|0.96682	.|.	.|.	ENSG00000067369|ENSG00000067369	ENST00000434595|ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.|D;D;D;D	.|0.91351	.|-2.83;-2.83;-2.83;-2.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|BRCT (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96259|0.96259	0.8780|0.8780	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.85130	.|0.994;0.949;0.997	D|D	0.96645|0.96645	0.9477|0.9477	5|10	.|0.87932	.|D	.|0	-6.8155|-6.8155	19.425|19.425	0.94737|0.94737	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1811;1816;1814	.|Q12888;Q12888-2;F8VY86	.|TP53B_HUMAN;.;.	K|Q	136|1811;1816;1766;1814	.|ENSP00000263801:R1811Q;ENSP00000371475:R1816Q;ENSP00000371470:R1766Q;ENSP00000393497:R1814Q	.|ENSP00000263801:R1811Q	E|R	-|-	1|2	0|0	TP53BP1|TP53BP1	41488540|41488540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.515000|5.515000	0.67049|0.67049	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43712818	43712818	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43712818C>A	ENST00000263801.3	-	21	4603	c.4351G>T	c.(4351-4353)Gat>Tat	p.D1451Y	TP53BP1_ENST00000382044.4_Missense_Mutation_p.D1456Y|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D1406Y|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D1456Y	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1451					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.D1451Y(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCACCCACATCTGTTCGTCTG	0.542								Other conserved DNA damage response genes																													p.D1451Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4351T	15						.						68.0	66.0	67.0					15																	43712818		2201	4298	6499	41500110	SO:0001583	missense	7158	exon21			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4351G>T	15.37:g.43712818C>A	ENSP00000263801:p.Asp1451Tyr		41500110	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971211	0.53614	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.05199	3.48;3.48;3.52;3.48	5.45	5.45	0.79879	.	0.187490	0.46758	D	0.000275	T	0.15089	0.0364	L	0.27053	0.805	0.23210	N	0.998112	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.03413	-1.1039	10	0.72032	D	0.01	-8.9113	14.9844	0.71336	0.0:0.847:0.153:0.0	.	1456;1451;1456;1456	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Y	1451;1456;1406;1456	ENSP00000263801:D1451Y;ENSP00000371475:D1456Y;ENSP00000371470:D1406Y;ENSP00000393497:D1456Y	ENSP00000263801:D1451Y	D	-	1	0	TP53BP1	41500110	0.192000	0.23301	0.315000	0.25238	0.976000	0.68499	2.176000	0.42500	2.717000	0.92951	0.585000	0.79938	GAT		0.542	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43720305	43720305	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43720305C>A	ENST00000263801.3	-	18	3974	c.3722G>T	c.(3721-3723)aGa>aTa	p.R1241I	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1246I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1246I|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1246I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1241					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1241I(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCGGATTGTTCTCATGTGACG	0.423								Other conserved DNA damage response genes																													p.R1241I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3722T	15						.						240.0	209.0	219.0					15																	43720305		2201	4298	6499	41507597	SO:0001583	missense	7158	exon18			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3722G>T	15.37:g.43720305C>A	ENSP00000263801:p.Arg1241Ile		41507597	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519226	0.96416	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.10573	3.02;3.02;2.86;3.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00630	-1.1636	10	0.62326	D	0.03	-13.8849	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1246;1241;1246;1246	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	1241;1246;1246;1246	ENSP00000263801:R1241I;ENSP00000371475:R1246I;ENSP00000371470:R1246I;ENSP00000393497:R1246I	ENSP00000263801:R1241I	R	-	2	0	TP53BP1	41507597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.395000	0.79876	2.747000	0.94245	0.650000	0.86243	AGA		0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43748491	43748491	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43748491C>A	ENST00000263801.3	-	12	2552	c.2300G>T	c.(2299-2301)aGa>aTa	p.R767I	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R772I|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R772I|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R772I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	767					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R767I(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AACATCAACTCTGGGAGATGG	0.453								Other conserved DNA damage response genes																													p.R767I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2300T	15						.						75.0	75.0	75.0					15																	43748491		2201	4298	6499	41535783	SO:0001583	missense	7158	exon12			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2300G>T	15.37:g.43748491C>A	ENSP00000263801:p.Arg767Ile		41535783	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288621	0.59976	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.15718	3.52;3.52;3.51;3.52;2.4	5.25	2.95	0.34219	.	0.380604	0.27060	N	0.021126	T	0.19525	0.0469	N	0.19112	0.55	0.41229	D	0.986562	D;D;D;D	0.76494	0.998;0.998;0.999;0.999	D;D;D;D	0.83275	0.991;0.991;0.996;0.996	T	0.11227	-1.0596	10	0.40728	T	0.16	-6.4401	3.0708	0.06230	0.267:0.5646:0.0:0.1684	.	772;767;772;772	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	767;772;772;772;772	ENSP00000263801:R767I;ENSP00000371475:R772I;ENSP00000371470:R772I;ENSP00000393497:R772I;ENSP00000388028:R772I	ENSP00000263801:R767I	R	-	2	0	TP53BP1	41535783	0.337000	0.24766	0.986000	0.45419	0.905000	0.53344	1.891000	0.39738	1.328000	0.45358	0.563000	0.77884	AGA		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43748582	43748582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43748582C>A	ENST00000263801.3	-	12	2461	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E742*|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E742*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E742*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	737					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.E737*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTTCCAATTCTTGGTCAAGT	0.408								Other conserved DNA damage response genes																													p.E737X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2209T	15						.						97.0	99.0	99.0					15																	43748582		2201	4298	6499	41535874	SO:0001587	stop_gained	7158	exon12			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2209G>T	15.37:g.43748582C>A	ENSP00000263801:p.Glu737*		41535874	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	41	8.788858	0.98954	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.03	4.11	0.48088	.	0.072060	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-13.7247	12.6432	0.56720	0.1653:0.8347:0.0:0.0	.	.	.	.	X	737;742;742;742;742	.	ENSP00000263801:E737X	E	-	1	0	TP53BP1	41535874	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	4.413000	0.59795	1.228000	0.43614	0.563000	0.77884	GAA		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43771698	43771698	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43771698C>T	ENST00000263801.3	-	7	922	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E229K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E229K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E229K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	224					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.E224K(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGATATCTTCGTTGGACTGT	0.403								Other conserved DNA damage response genes																													p.E224K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670A	15						.						255.0	200.0	219.0					15																	43771698		2201	4298	6499	41558990	SO:0001583	missense	7158	exon7			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.670G>A	15.37:g.43771698C>T	ENSP00000263801:p.Glu224Lys		41558990	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028722	0.54790	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.11277	3.64;3.63;3.63;3.63;2.79	4.95	4.95	0.65309	.	0.324271	0.29040	N	0.013338	T	0.13157	0.0319	M	0.62723	1.935	0.26400	N	0.97643	D;P;P;P	0.56521	0.976;0.923;0.954;0.954	B;B;B;B	0.41299	0.353;0.114;0.229;0.229	T	0.23013	-1.0200	10	0.31617	T	0.26	-4.2886	13.5588	0.61777	0.0:1.0:0.0:0.0	.	229;224;229;229	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	K	224;229;229;229;229	ENSP00000263801:E224K;ENSP00000371475:E229K;ENSP00000371470:E229K;ENSP00000393497:E229K;ENSP00000388028:E229K	ENSP00000263801:E224K	E	-	1	0	TP53BP1	41558990	0.806000	0.28996	0.168000	0.22838	0.187000	0.23431	3.347000	0.52200	2.579000	0.87056	0.585000	0.79938	GAA		0.403	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
MAP1A	4130	broad.mit.edu	37	15	43813692	43813692	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43813692C>A	ENST00000300231.5	+	4	471	c.21C>A	c.(19-21)ttC>ttA	p.F7L	MAP1A_ENST00000382031.1_Missense_Mutation_p.F245L|MAP1A_ENST00000399453.1_Missense_Mutation_p.F7L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	7					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.F7L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGCTGAGTTCTCCGAGTATG	0.587																																					p.F7L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C21A	15						.						77.0	81.0	80.0					15																	43813692		2070	4205	6275	41600984	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.21C>A	15.37:g.43813692C>A	ENSP00000300231:p.Phe7Leu		41600984	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640462	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.34859	1.34;1.34;1.34	5.22	2.3	0.28687	.	0.000000	0.35585	N	0.003115	T	0.55049	0.1896	M	0.73598	2.24	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.56505	-0.7968	10	0.87932	D	0	-12.376	8.7331	0.34512	0.0:0.6216:0.0:0.3784	.	7	P78559	MAP1A_HUMAN	L	245;7;7;7	ENSP00000371462:F245L;ENSP00000382380:F7L;ENSP00000300231:F7L	ENSP00000300231:F7L	F	+	3	2	MAP1A	41600984	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	0.626000	0.24492	0.794000	0.33899	-0.254000	0.11334	TTC		0.587	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
MAP1A	4130	broad.mit.edu	37	15	43814259	43814259	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43814259C>T	ENST00000300231.5	+	4	1038	c.588C>T	c.(586-588)ggC>ggT	p.G196G	MAP1A_ENST00000382031.1_Silent_p.G434G|MAP1A_ENST00000399453.1_Silent_p.G196G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	196					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G196G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGGTGTGGGCCGGCTGGACA	0.532																																					p.G196G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	15						.						63.0	63.0	63.0					15																	43814259		2037	4173	6210	41601551	SO:0001819	synonymous_variant	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.588C>T	15.37:g.43814259C>T			41601551	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1																																																																																				0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
MAP1A	4130	broad.mit.edu	37	15	43818291	43818291	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43818291G>T	ENST00000300231.5	+	4	5070	c.4620G>T	c.(4618-4620)aaG>aaT	p.K1540N	MAP1A_ENST00000382031.1_Missense_Mutation_p.K1778N|MAP1A_ENST00000399453.1_Missense_Mutation_p.K1540N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1540					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.K1540N(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGAACAAAAGGATAAAGTCT	0.478																																					p.K1540N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4620T	15						.						59.0	66.0	64.0					15																	43818291		1863	4089	5952	41605583	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4620G>T	15.37:g.43818291G>T	ENSP00000300231:p.Lys1540Asn		41605583	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747984	0.30955	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02944	4.1;4.1;4.1	4.08	0.948	0.19561	.	.	.	.	.	T	0.04227	0.0117	M	0.64404	1.975	0.09310	N	1	B	0.26195	0.144	B	0.30782	0.12	T	0.42378	-0.9455	9	0.23302	T	0.38	-2.1826	7.752	0.28903	0.308:0.0:0.692:0.0	.	1540	P78559	MAP1A_HUMAN	N	1778;1540;1540	ENSP00000371462:K1778N;ENSP00000382380:K1540N;ENSP00000300231:K1540N	ENSP00000300231:K1540N	K	+	3	2	MAP1A	41605583	0.000000	0.05858	0.349000	0.25694	0.495000	0.33615	-0.033000	0.12246	0.097000	0.17492	0.563000	0.77884	AAG		0.478	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
MAP1A	4130	broad.mit.edu	37	15	43818616	43818616	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43818616G>A	ENST00000300231.5	+	4	5395	c.4945G>A	c.(4945-4947)Gag>Aag	p.E1649K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E1887K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1649K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1649					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E1649K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTGGTCCAGGAGTGGCAAGA	0.577																																					p.E1649K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4945A	15						.						44.0	57.0	52.0					15																	43818616		1969	4139	6108	41605908	SO:0001583	missense	4130	exon4			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4945G>A	15.37:g.43818616G>A	ENSP00000300231:p.Glu1649Lys		41605908	NM_002373	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181648	0.21787	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01495	4.83;4.83;4.83	4.05	4.05	0.47172	.	.	.	.	.	T	0.01592	0.0051	N	0.20986	0.625	0.23515	N	0.997512	B	0.02656	0.0	B	0.08055	0.003	T	0.43015	-0.9417	9	0.06625	T	0.88	-5.2156	13.7819	0.63087	0.0:0.0:1.0:0.0	.	1649	P78559	MAP1A_HUMAN	K	1887;1649;1649	ENSP00000371462:E1887K;ENSP00000382380:E1649K;ENSP00000300231:E1649K	ENSP00000300231:E1649K	E	+	1	0	MAP1A	41605908	0.820000	0.29190	1.000000	0.80357	0.665000	0.39181	3.422000	0.52749	2.095000	0.63458	0.563000	0.77884	GAG		0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
STRC	161497	broad.mit.edu	37	15	43900122	43900122	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43900122C>T	ENST00000450892.2	-	18	3810	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	STRC_ENST00000541030.1_Missense_Mutation_p.E472K	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1245					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.E1245K(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTTGTCCATTCTGGTTCTGGC	0.542																																					p.E1245K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3733A	15						.						57.0	64.0	62.0					15																	43900122		2167	4289	6456	41687414	SO:0001583	missense	161497	exon18			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3733G>A	15.37:g.43900122C>T	ENSP00000401513:p.Glu1245Lys		41687414	NM_153700		Missense_Mutation	SNP	ENST00000450892.2	37	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188345	0.78789	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.80214	-1.35;-1.3	5.6	5.6	0.85130	.	0.126932	0.35936	N	0.002890	T	0.79857	0.4518	N	0.19112	0.55	0.39423	D	0.966942	D;P	0.64830	0.994;0.718	P;B	0.60789	0.879;0.295	T	0.75912	-0.3150	10	0.15066	T	0.55	-14.2032	17.102	0.86652	0.0:1.0:0.0:0.0	.	472;1245	F5GXA4;Q7RTU9	.;STRC_HUMAN	K	1245;1245;472	ENSP00000401513:E1245K;ENSP00000440413:E472K	ENSP00000299992:E1245K	E	-	1	0	STRC	41687414	0.999000	0.42202	1.000000	0.80357	0.431000	0.31685	2.585000	0.46111	2.640000	0.89533	0.457000	0.33378	GAA		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700	
CATSPER2	117155	broad.mit.edu	37	15	43924921	43924921	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43924921A>C	ENST00000321596.5	-	11	1589	c.1390T>G	c.(1390-1392)Tct>Gct	p.S464A	CATSPER2_ENST00000354127.4_Missense_Mutation_p.S462A|CATSPER2_ENST00000396879.1_Missense_Mutation_p.S462A|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S468A|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	464	Ser-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S462A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCACCAATAGATTCAGAAAAT	0.388																																					p.S462A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1384G	15						.						51.0	54.0	53.0					15																	43924921		2199	4294	6493	41712213	SO:0001583	missense	117155	exon11			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1390T>G	15.37:g.43924921A>C	ENSP00000321463:p.Ser464Ala		41712213	NM_054020	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.647319	0.00792	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127	D;D;D;D	0.95980	-3.85;-3.86;-3.87;-3.85	2.79	-5.58	0.02512	.	0.390690	0.11065	U	0.603552	D	0.86826	0.6026	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.74034	-0.3794	10	0.13108	T	0.6	.	1.3932	0.02255	0.1477:0.2724:0.3369:0.243	.	468;464	F8W9H2;Q96P56	.;CTSR2_HUMAN	A	462;464;468;464;462	ENSP00000380088:S462A;ENSP00000371180:S468A;ENSP00000321463:S464A;ENSP00000339137:S462A	ENSP00000299989:S464A	S	-	1	0	CATSPER2	41712213	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.621000	0.00878	-2.720000	0.00389	-0.268000	0.10319	TCT		0.388	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
CATSPER2	117155	broad.mit.edu	37	15	43925015	43925015	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:43925015C>T	ENST00000321596.5	-	11	1495	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E	CATSPER2_ENST00000354127.4_Silent_p.E430E|CATSPER2_ENST00000396879.1_Silent_p.E430E|CATSPER2_ENST00000381761.1_Silent_p.E436E|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	432	Ser-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.E430E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTGACAAGGTCTCTTCTGTTT	0.393																																					p.E430E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1290A	15						.						119.0	113.0	115.0					15																	43925015		2199	4296	6495	41712307	SO:0001819	synonymous_variant	117155	exon11			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1296G>A	15.37:g.43925015C>T			41712307	NM_054020	Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	CCDS10099.1																																																																																				0.393	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
SERINC4	619189	broad.mit.edu	37	15	44087294	44087294	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44087294T>C	ENST00000319327.6	-	12	1695	c.1461A>G	c.(1459-1461)ccA>ccG	p.P487P	SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Missense_Mutation_p.H413R|SERINC4_ENST00000249714.3_Silent_p.P243P|SERF2_ENST00000409291.1_Intron|HYPK_ENST00000406925.1_5'Flank|RP11-296A16.1_ENST00000417761.2_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	487					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)		p.P243P(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GCCAACAGAGTGGTGCCAGTA	0.572																																					p.P243P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A729G	15						.						65.0	73.0	70.0					15																	44087294		2198	4298	6496	41874586	SO:0001819	synonymous_variant	619189	exon11			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1461A>G	15.37:g.44087294T>C			41874586	NM_001033517	B2RN41|Q3YL75	Silent	SNP	ENST00000319327.6	37	CCDS58360.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601327	0.28534	.	.	ENSG00000184716	ENST00000299969	T	0.26957	1.7	5.27	1.67	0.24075	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17018	-1.0383	8	0.87932	D	0	-7.6376	1.3299	0.02132	0.1373:0.2177:0.1423:0.5027	.	413	A6NM42	.	R	413	ENSP00000299969:H413R	ENSP00000299969:H413R	H	-	2	0	SERINC4	41874586	0.001000	0.12720	0.997000	0.53966	0.720000	0.41350	-1.197000	0.03038	0.316000	0.23135	0.528000	0.53228	CAC		0.572	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2		
CASC4	113201	broad.mit.edu	37	15	44620947	44620947	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44620947G>A	ENST00000345795.2	+	3	717	c.447G>A	c.(445-447)aaG>aaA	p.K149K	CASC4_ENST00000299957.6_Silent_p.K149K|CASC4_ENST00000360824.3_Silent_p.K149K	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	149						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.K149K(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACTATAGGAAGAACAATACTT	0.378																																					p.K149K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	15						.						93.0	85.0	88.0					15																	44620947		2198	4298	6496	42408239	SO:0001819	synonymous_variant	113201	exon3			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.447G>A	15.37:g.44620947G>A			42408239	NM_177974	B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	ENST00000345795.2	37	CCDS10109.1																																																																																				0.378	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423	
CTDSPL2	51496	broad.mit.edu	37	15	44813513	44813513	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44813513C>A	ENST00000260327.4	+	12	1807	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.S343Y|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.S415Y|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.S343Y	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	415	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)	p.S415Y(1)|p.S415C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TTTTAGCTTTCTAATGGAATC	0.269																																					p.S415Y												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1244A	15						.						51.0	53.0	52.0					15																	44813513		2196	4296	6492	42600805	SO:0001583	missense	51496	exon12			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1244C>A	15.37:g.44813513C>A	ENSP00000260327:p.Ser415Tyr		42600805	NM_016396	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960424	0.92791	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.18338	2.22;2.22	5.51	5.51	0.81932	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	L	0.33710	1.025	0.80722	D	1	D;P	0.56968	0.978;0.942	P;P	0.57324	0.761;0.818	T	0.01330	-1.1383	10	0.72032	D	0.01	-9.61	19.4177	0.94708	0.0:1.0:0.0:0.0	.	343;415	Q05D32-2;Q05D32	.;CTSL2_HUMAN	Y	415;343	ENSP00000260327:S415Y;ENSP00000380000:S343Y	ENSP00000260327:S415Y	S	+	2	0	CTDSPL2	42600805	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.793000	0.85851	2.575000	0.86900	0.484000	0.47621	TCT		0.269	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396	
EIF3J	8669	broad.mit.edu	37	15	44843088	44843088	+	Silent	SNP	C	C	T	rs146638481		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44843088C>T	ENST00000535391.1	+	3	174	c.162C>T	c.(160-162)gaC>gaT	p.D54D	EIF3J_ENST00000261868.5_Silent_p.D54D|EIF3J_ENST00000424492.3_Intron					eukaryotic translation initiation factor 3, subunit J									p.D54D(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		ACTGGGATGACGATGATGATG	0.373																																					p.D54D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	15						.	C		0,4396		0,0,2198	96.0	109.0	105.0		162	-1.8	1.0	15	dbSNP_134	105	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	EIF3J	NM_003758.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		54/259	44843088	1,12991	2198	4298	6496	42630380	SO:0001819	synonymous_variant	8669	exon3			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.162C>T	15.37:g.44843088C>T			42630380	NM_003758		Silent	SNP	ENST00000535391.1	37																																																																																					0.373	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758	
EIF3J	8669	broad.mit.edu	37	15	44849713	44849713	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44849713G>T	ENST00000261868.5	+	6	574	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000424492.3_Missense_Mutation_p.D97Y|EIF3J_ENST00000535391.1_Intron	NM_003758.2	NP_003749.2			eukaryotic translation initiation factor 3, subunit J									p.D146Y(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TTATGGAATAGATGCTATGAA	0.313																																					p.D146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436T	15						.						73.0	79.0	77.0					15																	44849713		2198	4297	6495	42637005	SO:0001583	missense	8669	exon6			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000261868.5:c.436G>T	15.37:g.44849713G>T	ENSP00000261868:p.Asp146Tyr		42637005	NM_003758		Missense_Mutation	SNP	ENST00000261868.5	37	CCDS10111.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.763728|4.763728	0.89932|0.89932	.|.	.|.	ENSG00000104131|ENSG00000104131	ENST00000261868;ENST00000424492|ENST00000536248	T;T|.	0.51574|.	0.7;0.7|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Eukaryotic translation initiation factor 3-like domain (1);|.	0.139020|.	0.64402|.	D|.	0.000005|.	T|T	0.77011|0.77011	0.4068|0.4068	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76575|.	0.988;0.983|.	T|T	0.74899|0.74899	-0.3507|-0.3507	10|5	0.87932|.	D|.	0|.	.|.	19.9883|19.9883	0.97356|0.97356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;146|.	F5H425;O75822|.	.;EIF3J_HUMAN|.	Y|I	146;97|24	ENSP00000261868:D146Y;ENSP00000414548:D97Y|.	ENSP00000261868:D146Y|.	D|R	+|+	1|2	0|0	EIF3J|EIF3J	42637005|42637005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.722000|2.722000	0.93159|0.93159	0.555000|0.555000	0.69702|0.69702	GAT|AGA		0.313	EIF3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253850.1	NM_003758	
SPG11	80208	broad.mit.edu	37	15	44941171	44941171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44941171C>A	ENST00000261866.7	-	7	1511	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	SPG11_ENST00000559193.1_Nonsense_Mutation_p.E499*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.E499*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E499*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E499*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	499					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E499*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAAAACTCTTCTTGAGTCAAA	0.373																																					p.E499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1495T	15						.						90.0	88.0	89.0					15																	44941171		2198	4298	6496	42728463	SO:0001587	stop_gained	80208	exon7				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1495G>T	15.37:g.44941171C>A	ENSP00000261866:p.Glu499*		42728463	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	37	6.591487	0.97688	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.85	5.85	0.93711	.	0.063724	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7539	0.96283	0.0:1.0:0.0:0.0	.	.	.	.	X	499	.	ENSP00000261866:E499X	E	-	1	0	SPG11	42728463	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.101000	0.71479	2.770000	0.95276	0.563000	0.77884	GAA		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	broad.mit.edu	37	15	44944095	44944095	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44944095C>A	ENST00000261866.7	-	6	1066	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	SPG11_ENST00000559193.1_Missense_Mutation_p.K350N|SPG11_ENST00000558319.1_Missense_Mutation_p.K350N|SPG11_ENST00000427534.2_Missense_Mutation_p.K350N|SPG11_ENST00000535302.2_Missense_Mutation_p.K350N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	350					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.K350N(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTTGGAGTTCTTTATTGTTT	0.403																																					p.K350N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1050T	15						.						52.0	45.0	47.0					15																	44944095		2198	4298	6496	42731387	SO:0001583	missense	80208	exon6				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1050G>T	15.37:g.44944095C>A	ENSP00000261866:p.Lys350Asn		42731387	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721282	0.48728	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78481	-1.18;-0.92;-0.92	5.96	4.04	0.47022	.	0.547075	0.18061	N	0.152925	T	0.76428	0.3986	L	0.59436	1.845	0.25180	N	0.99021	P;P;P;P	0.43352	0.804;0.804;0.763;0.804	B;B;P;B	0.44897	0.36;0.36;0.463;0.36	T	0.68606	-0.5364	10	0.72032	D	0.01	.	9.9807	0.41811	0.0:0.7885:0.1382:0.0734	.	350;350;350;350	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	N	350	ENSP00000261866:K350N;ENSP00000445278:K350N;ENSP00000396110:K350N	ENSP00000261866:K350N	K	-	3	2	SPG11	42731387	0.881000	0.30235	0.535000	0.28026	0.978000	0.69477	1.183000	0.32041	0.815000	0.34398	0.655000	0.94253	AAG		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
TRIM69	140691	broad.mit.edu	37	15	45047124	45047124	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45047124C>T	ENST00000559390.1	+	3	961	c.33C>T	c.(31-33)atC>atT	p.I11I	TRIM69_ENST00000329464.4_Silent_p.I11I|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	11	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I11I(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCTCCAACATCGATCCAGGCG	0.433																																					p.I11I	Pancreas(84;519 1450 1802 20427 34706)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	15						.						130.0	122.0	125.0					15																	45047124		2198	4298	6496	42834416	SO:0001819	synonymous_variant	140691	exon2			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.33C>T	15.37:g.45047124C>T			42834416	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	ENST00000559390.1	37	CCDS32220.1																																																																																				0.433	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
TRIM69	140691	broad.mit.edu	37	15	45059523	45059523	+	Missense_Mutation	SNP	G	G	T	rs142877382		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45059523G>T	ENST00000559390.1	+	8	1984	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	TRIM69_ENST00000329464.4_Missense_Mutation_p.K352N|TRIM69_ENST00000558329.1_Missense_Mutation_p.K131N|TRIM69_ENST00000561043.1_Missense_Mutation_p.K115N|TRIM69_ENST00000560442.1_Missense_Mutation_p.K148N|TRIM69_ENST00000338264.4_Missense_Mutation_p.K193N|TRIM69_ENST00000558173.1_Missense_Mutation_p.K148N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K352N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		ACATTAAGAAGATAATGCCTG	0.488																																					p.K352N	Pancreas(84;519 1450 1802 20427 34706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T	15						.						143.0	143.0	143.0					15																	45059523		2198	4298	6496	42846815	SO:0001583	missense	140691	exon7			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1056G>T	15.37:g.45059523G>T	ENSP00000453177:p.Lys352Asn		42846815	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448719	0.26074	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.10860	2.83;2.83	5.5	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.189124	0.36555	N	0.002536	T	0.07954	0.0199	L	0.38175	1.15	0.28664	N	0.90599	B;B;B	0.32753	0.21;0.27;0.383	B;B;B	0.29942	0.109;0.062;0.079	T	0.15521	-1.0434	10	0.25106	T	0.35	.	8.3174	0.32108	0.0854:0.1556:0.759:0.0	.	131;193;352	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	N	352;193	ENSP00000332284:K352N;ENSP00000342922:K193N	ENSP00000332284:K352N	K	+	3	2	TRIM69	42846815	0.826000	0.29277	0.972000	0.41901	0.099000	0.18886	1.192000	0.32150	2.589000	0.87451	0.650000	0.86243	AAG		0.488	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
SORD	6652	broad.mit.edu	37	15	45353372	45353372	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45353372G>A	ENST00000267814.9	+	4	553	c.373G>A	c.(373-375)Gat>Aat	p.D125N	RP11-109D20.1_ENST00000560324.1_RNA|SORD_ENST00000558580.1_Missense_Mutation_p.D104N	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	125					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)	p.D125N(1)		endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		CACGCCCCCCGATGACGGGAA	0.527																																					p.D125N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	15						.						113.0	96.0	102.0					15																	45353372		2198	4298	6496	43140664	SO:0001583	missense	6652	exon4				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.373G>A	15.37:g.45353372G>A	ENSP00000267814:p.Asp125Asn		43140664	NM_003104	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358679	0.41801	.	.	ENSG00000140263	ENST00000267814	T	0.04502	3.61	4.23	4.23	0.50019	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	N	0.16743	0.435	0.80722	D	1	B;B	0.20368	0.044;0.02	B;B	0.17433	0.012;0.018	T	0.50591	-0.8810	10	0.29301	T	0.29	-17.3182	15.7782	0.78240	0.0:0.0:1.0:0.0	.	46;125	B4DKI2;Q00796	.;DHSO_HUMAN	N	125	ENSP00000267814:D125N	ENSP00000267814:D125N	D	+	1	0	SORD	43140664	1.000000	0.71417	0.942000	0.38095	0.464000	0.32679	9.494000	0.97962	2.184000	0.69523	0.563000	0.77884	GAT		0.527	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3		
DUOXA1	90527	broad.mit.edu	37	15	45411419	45411419	+	Missense_Mutation	SNP	C	C	T	rs199559225		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45411419C>T	ENST00000560572.1	-	6	922	c.917G>A	c.(916-918)cGc>cAc	p.R306H	DUOXA1_ENST00000430224.2_Missense_Mutation_p.R261H|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R306H|DUOXA1_ENST00000558422.1_Missense_Mutation_p.R261H|DUOXA1_ENST00000558996.1_Missense_Mutation_p.R261H|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R306H	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	306					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R306H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GGACCGGTAGCGGGGGCTCAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18446	0.001		0.0	False		,,,				2504	0.0				p.R306H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G917A	15						.						83.0	83.0	83.0					15																	45411419		2198	4298	6496	43198711	SO:0001583	missense	90527	exon9			BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.917G>A	15.37:g.45411419C>T	ENSP00000454084:p.Arg306His		43198711	NM_144565	Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.69	2.012245	0.35511	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.61392	0.56;0.11	5.31	2.42	0.29668	.	0.362455	0.24167	N	0.040932	T	0.36413	0.0966	N	0.24115	0.695	0.24271	N	0.995248	B;B;B;B	0.19935	0.032;0.004;0.008;0.04	B;B;B;B	0.14023	0.01;0.002;0.002;0.006	T	0.19844	-1.0293	10	0.48119	T	0.1	-12.1969	3.6237	0.08105	0.1737:0.5497:0.0:0.2766	.	261;261;306;306	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	H	306;261	ENSP00000267803:R306H;ENSP00000415512:R261H	ENSP00000267803:R306H	R	-	2	0	DUOXA1	43198711	0.048000	0.20356	0.992000	0.48379	0.574000	0.36063	0.430000	0.21428	0.373000	0.24621	-0.140000	0.14226	CGC		0.577	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565	
DUOX1	53905	broad.mit.edu	37	15	45436370	45436370	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45436370C>T	ENST00000321429.4	+	18	2480	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	DUOX1_ENST00000561166.1_Silent_p.F337F|DUOX1_ENST00000389037.3_Silent_p.F691F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	691					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.F691F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGGTCAACTTCGTCCTGTCCA	0.612																																					p.F691F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2073T	15						.						89.0	74.0	79.0					15																	45436370		2198	4298	6496	43223662	SO:0001819	synonymous_variant	53905	exon18			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2073C>T	15.37:g.45436370C>T			43223662	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	CCDS32221.1																																																																																				0.612	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
DUOX1	53905	broad.mit.edu	37	15	45455738	45455738	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45455738C>A	ENST00000321429.4	+	33	4664	c.4257C>A	c.(4255-4257)ttC>ttA	p.F1419L	DUOX1_ENST00000561166.1_Missense_Mutation_p.F1065L|DUOX1_ENST00000389037.3_Missense_Mutation_p.F1419L|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1419					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)	p.F1419L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGATCTACTTCATCTGGGTGA	0.557											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F1419L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4257A	15						.						95.0	86.0	89.0					15																	45455738		2198	4298	6496	43243030	SO:0001583	missense	53905	exon33			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4257C>A	15.37:g.45455738C>A	ENSP00000317997:p.Phe1419Leu	931	43243030	NM_017434	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133369	0.77662	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94046	-3.34;-3.34	4.36	3.44	0.39384	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.74258	2.255	0.80722	D	1	P	0.45011	0.848	P	0.50825	0.651	D	0.92459	0.5976	10	0.87932	D	0	-24.7355	6.5588	0.22476	0.0:0.7863:0.0:0.2137	.	1419	Q9NRD9	DUOX1_HUMAN	L	1419	ENSP00000317997:F1419L;ENSP00000373689:F1419L	ENSP00000317997:F1419L	F	+	3	2	DUOX1	43243030	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.997000	0.49457	1.033000	0.39918	0.491000	0.48974	TTC		0.557	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434	
C15orf48	84419	broad.mit.edu	37	15	45724330	45724330	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45724330G>T	ENST00000344300.3	+	3	373	c.183G>T	c.(181-183)aaG>aaT	p.K61N	MIR147B_ENST00000390185.1_RNA|C15orf48_ENST00000396650.2_Splice_Site_p.K61N|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	61						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K61N(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TACCTCAAAAGGTATTGTTAA	0.318																																					p.K61N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G183T	15						.						76.0	74.0	75.0					15																	45724330		2198	4298	6496	43511622	SO:0001630	splice_region_variant	84419	exon4				CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.183+1G>T	15.37:g.45724330G>T			43511622	NM_197955		Missense_Mutation	SNP	ENST00000344300.3	37	CCDS10124.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086275	0.55861	.	.	ENSG00000166920	ENST00000396650;ENST00000344300	D;D	0.82255	-1.59;-1.59	5.14	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	.	.	.	0.50313	D	0.999863	D	0.89917	1.0	D	0.91635	0.999	D	0.91317	0.5079	9	0.87932	D	0	-14.8573	12.3403	0.55091	0.0:0.0:0.8307:0.1693	.	61	Q9C002	NMES1_HUMAN	N	61	ENSP00000379887:K61N;ENSP00000341610:K61N	ENSP00000341610:K61N	K	+	3	2	C15orf48	43511622	1.000000	0.71417	0.978000	0.43139	0.416000	0.31233	7.884000	0.87274	1.286000	0.44565	0.563000	0.77884	AAG		0.318	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413	Missense_Mutation
SLC30A4	7782	broad.mit.edu	37	15	45779760	45779760	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:45779760C>T	ENST00000261867.4	-	6	1279	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	322					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.R322Q(2)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CCATATGATTCGAAATGTTGT	0.348																																					p.R322Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G965A	15						.						124.0	130.0	128.0					15																	45779760		2198	4297	6495	43567052	SO:0001583	missense	7782	exon6				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.965G>A	15.37:g.45779760C>T	ENSP00000261867:p.Arg322Gln		43567052	NM_013309	Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300857	0.60195	.	.	ENSG00000104154	ENST00000261867	T	0.64618	-0.11	6.03	5.11	0.69529	.	0.051596	0.85682	D	0.000000	T	0.48677	0.1513	L	0.45137	1.4	0.52099	D	0.999941	P	0.43094	0.799	B	0.34180	0.177	T	0.46289	-0.9202	10	0.14252	T	0.57	-3.3258	14.091	0.64990	0.0:0.9276:0.0:0.0724	.	322	O14863	ZNT4_HUMAN	Q	322	ENSP00000261867:R322Q	ENSP00000261867:R322Q	R	-	2	0	SLC30A4	43567052	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.450000	0.60041	1.563000	0.49615	-0.140000	0.14226	CGA		0.348	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1		
SEMA6D	80031	broad.mit.edu	37	15	48052553	48052553	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48052553G>T	ENST00000316364.5	+	3	601	c.162G>T	c.(160-162)caG>caT	p.Q54H	SEMA6D_ENST00000536845.2_Missense_Mutation_p.Q54H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.Q54H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.Q54H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.Q54H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.Q54H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.Q54H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.Q54H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.Q54H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.Q54H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.Q54H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.Q54H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	54	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.Q54H(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGAATCGCAGCACAGGCTGG	0.398																																					p.Q54H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	15						.						102.0	97.0	99.0					15																	48052553		2198	4297	6495	45839845	SO:0001583	missense	80031	exon3			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.162G>T	15.37:g.48052553G>T	ENSP00000324857:p.Gln54His		45839845	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681499	0.68042	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.33485	1.01	0.80722	D	1	D;D;D;B;D	0.64830	0.994;0.98;0.994;0.249;0.994	D;P;D;B;D	0.63597	0.916;0.629;0.916;0.118;0.916	T	0.00802	-1.1560	10	0.31617	T	0.26	.	14.1691	0.65497	0.0712:0.0:0.9288:0.0	.	54;54;54;54;54	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	54	ENSP00000442040:Q54H;ENSP00000446152:Q54H;ENSP00000324857:Q54H;ENSP00000374084:Q54H;ENSP00000374083:Q54H;ENSP00000346786:Q54H;ENSP00000350770:Q54H;ENSP00000374079:Q54H;ENSP00000348276:Q54H;ENSP00000374076:Q54H	ENSP00000324857:Q54H	Q	+	3	2	SEMA6D	45839845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.309000	0.59135	2.726000	0.93360	0.655000	0.94253	CAG		0.398	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SEMA6D	80031	broad.mit.edu	37	15	48055275	48055275	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48055275G>A	ENST00000316364.5	+	9	1160	c.721G>A	c.(721-723)Gct>Act	p.A241T	SEMA6D_ENST00000536845.2_Missense_Mutation_p.A241T|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A241T|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A241T|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A241T|SEMA6D_ENST00000355997.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A241T|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A241T|SEMA6D_ENST00000389425.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A241T|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A241T|SEMA6D_ENST00000558816.1_Missense_Mutation_p.A241T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	241	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.A241T(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCGAGAAATCGCTGTCGAACA	0.358																																					p.A241T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721A	15						.						86.0	82.0	83.0					15																	48055275		2198	4296	6494	45842567	SO:0001583	missense	80031	exon9			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.721G>A	15.37:g.48055275G>A	ENSP00000324857:p.Ala241Thr		45842567	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466457	0.96257	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.996;0.999;1.0;1.0	D;P;D;D;D	0.91635	0.961;0.885;0.961;0.999;0.961	T	0.50906	-0.8772	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	241;241;241;241;241	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	T	241	ENSP00000442040:A241T;ENSP00000446152:A241T;ENSP00000324857:A241T;ENSP00000374084:A241T;ENSP00000374083:A241T;ENSP00000346786:A241T;ENSP00000350770:A241T;ENSP00000374079:A241T;ENSP00000348276:A241T;ENSP00000374076:A241T	ENSP00000324857:A241T	A	+	1	0	SEMA6D	45842567	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GCT		0.358	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SEMA6D	80031	broad.mit.edu	37	15	48056168	48056168	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48056168C>T	ENST00000316364.5	+	10	1308	c.869C>T	c.(868-870)tCg>tTg	p.S290L	SEMA6D_ENST00000536845.2_Missense_Mutation_p.S290L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.S290L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S290L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S290L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.S290L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S290L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S290L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.S290L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S290L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S290L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.S290L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	290	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S290L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTGGAGATTCGTTTTTCTAC	0.468																																					p.S290L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	15						.						142.0	125.0	131.0					15																	48056168		2198	4297	6495	45843460	SO:0001583	missense	80031	exon10			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.869C>T	15.37:g.48056168C>T	ENSP00000324857:p.Ser290Leu		45843460	NM_153619	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664858	0.96745	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.929;0.943;0.929;0.999;0.991	T	0.41342	-0.9514	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	290;290;290;290;290	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	L	290	ENSP00000442040:S290L;ENSP00000446152:S290L;ENSP00000324857:S290L;ENSP00000374084:S290L;ENSP00000374083:S290L;ENSP00000346786:S290L;ENSP00000350770:S290L;ENSP00000374079:S290L;ENSP00000348276:S290L;ENSP00000374076:S290L	ENSP00000324857:S290L	S	+	2	0	SEMA6D	45843460	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	TCG		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SLC12A1	6557	broad.mit.edu	37	15	48513123	48513123	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48513123A>G	ENST00000558405.1	+	3	572	c.558A>G	c.(556-558)agA>agG	p.R186R	SLC12A1_ENST00000396577.3_Silent_p.R186R|SLC12A1_ENST00000330289.6_Silent_p.R186R|SLC12A1_ENST00000380993.3_Silent_p.R186R|SLC12A1_ENST00000561031.1_Silent_p.R186R			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	186					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.R186R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CACAGGTAAGATGCATGCTGA	0.468																																					p.R186R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A558G	15						.						122.0	116.0	118.0					15																	48513123		2198	4297	6495	46300415	SO:0001819	synonymous_variant	6557	exon4				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.558A>G	15.37:g.48513123A>G			46300415	NM_001184832	A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	CCDS10129.2																																																																																				0.468	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48518675	48518675	+	Missense_Mutation	SNP	C	C	A	rs183594799		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48518675C>A	ENST00000558405.1	+	4	645	c.631C>A	c.(631-633)Ctt>Att	p.L211I	SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L211I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L211I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	211					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.L211I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTAACAGGTCTTGGAGTTCT	0.378																																					p.L211I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C631A	15						.						122.0	117.0	119.0					15																	48518675		1852	4095	5947	46305967	SO:0001583	missense	6557	exon5				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.631C>A	15.37:g.48518675C>A	ENSP00000453409:p.Leu211Ile		46305967	NM_000338	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657417	0.88154	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000330289	D;D	0.98835	-5.17;-5.17	5.82	5.82	0.92795	Amino acid permease domain (1);	.	.	.	.	D	0.99211	0.9726	M	0.85630	2.765	0.80722	D	1	P;D	0.65815	0.943;0.995	P;D	0.70487	0.826;0.969	D	0.99486	1.0949	9	0.59425	D	0.04	.	20.0956	0.97842	0.0:1.0:0.0:0.0	.	211;211	Q8IUN5;Q13621	.;S12A1_HUMAN	I	24;211;211	ENSP00000370381:L211I;ENSP00000331550:L211I	ENSP00000331550:L211I	L	+	1	0	SLC12A1	46305967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.249000	0.65427	2.746000	0.94184	0.650000	0.86243	CTT		0.378	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48524968	48524968	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48524968C>A	ENST00000558405.1	+	7	1034	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Missense_Mutation_p.N340K|SLC12A1_ENST00000330289.6_Missense_Mutation_p.N340K|SLC12A1_ENST00000380993.3_Missense_Mutation_p.N340K			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	340					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.N340K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTATTGCAAACTTCTTCATTG	0.333																																					p.N340K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1020A	15						.						152.0	159.0	157.0					15																	48524968		2198	4297	6495	46312260	SO:0001583	missense	6557	exon8				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1020C>A	15.37:g.48524968C>A	ENSP00000453409:p.Asn340Lys		46312260	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791861	0.70452	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98701	-5.08;-5.08;-5.08	5.74	3.73	0.42828	Amino acid permease domain (1);	0.043047	0.85682	D	0.000000	D	0.99001	0.9659	M	0.90425	3.115	0.50039	D	0.999841	D;D;D	0.76494	0.971;0.995;0.999	P;D;D	0.73708	0.9;0.936;0.981	D	0.99698	1.1003	10	0.87932	D	0	.	7.6569	0.28381	0.0:0.6476:0.0:0.3524	.	340;340;340	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	K	153;340;340;340	ENSP00000370381:N340K;ENSP00000379822:N340K;ENSP00000331550:N340K	ENSP00000331550:N340K	N	+	3	2	SLC12A1	46312260	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.365000	0.20348	1.344000	0.45657	0.563000	0.77884	AAC		0.333	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48527104	48527104	+	Missense_Mutation	SNP	G	G	A	rs150258541		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48527104G>A	ENST00000558405.1	+	8	1132	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Missense_Mutation_p.R373H|SLC12A1_ENST00000330289.6_Missense_Mutation_p.R373H|SLC12A1_ENST00000380993.3_Missense_Mutation_p.R373H			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	373					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.R373H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTTGGGCCACGCTTCACAAAG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17317	0.0		0.001	False		,,,				2504	0.0				p.R373H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118A	15						.	G	HIS/ARG,HIS/ARG	0,4396		0,0,2198	97.0	100.0	99.0		1118,1118	3.2	1.0	15	dbSNP_134	99	4,8590	3.7+/-12.6	0,4,4293	yes	missense,missense	SLC12A1	NM_000338.2,NM_001184832.1	29,29	0,4,6491	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	373/1100,373/1100	48527104	4,12986	2198	4297	6495	46314396	SO:0001583	missense	6557	exon9				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1118G>A	15.37:g.48527104G>A	ENSP00000453409:p.Arg373His		46314396	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.66	2.899566	0.52227	0.0	4.65E-4	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98747	-5.11;-5.11;-5.11	5.06	3.16	0.36331	Amino acid permease domain (1);	0.150320	0.56097	D	0.000021	D	0.92489	0.7615	N	0.02674	-0.535	0.24190	N	0.995552	B;B;B	0.29085	0.02;0.232;0.126	B;B;B	0.29598	0.029;0.104;0.099	D	0.88249	0.2915	10	0.87932	D	0	.	5.3133	0.15843	0.4013:0.0:0.5987:0.0	.	373;373;373	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	H	186;373;373;373	ENSP00000370381:R373H;ENSP00000379822:R373H;ENSP00000331550:R373H	ENSP00000331550:R373H	R	+	2	0	SLC12A1	46314396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.706000	0.47135	1.270000	0.44297	0.467000	0.42956	CGC		0.393	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
SLC12A1	6557	broad.mit.edu	37	15	48559893	48559893	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48559893C>A	ENST00000558405.1	+	17	2304	c.2290C>A	c.(2290-2292)Ctt>Att	p.L764I	SLC12A1_ENST00000396577.3_Missense_Mutation_p.L764I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L764I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	764					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.L764I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGAAGTCTTCTTCAGGTAAG	0.468																																					p.L764I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2290A	15						.						125.0	128.0	127.0					15																	48559893		2198	4297	6495	46347185	SO:0001583	missense	6557	exon18				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2290C>A	15.37:g.48559893C>A	ENSP00000453409:p.Leu764Ile		46347185	NM_001184832	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.193389|4.193389	0.78902|0.78902	.|.	.|.	ENSG00000074803|ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000546071|ENST00000428362	D;D|.	0.94793|.	-3.52;-3.52|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.061993|.	0.64402|.	D|.	0.000003|.	T|T	0.69691|0.69691	0.3139|0.3139	L|L	0.37897|0.37897	1.145|1.145	0.80722|0.80722	D|D	1|1	D;D|.	0.61080|.	0.989;0.978|.	P;P|.	0.62649|.	0.804;0.905|.	T|T	0.69946|0.69946	-0.5007|-0.5007	10|6	0.56958|0.87932	D|D	0.05|0	.|.	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	764;764|.	E9PDW4;Q13621|.	.;S12A1_HUMAN|.	I|Y	764;764;158|576	ENSP00000370381:L764I;ENSP00000379822:L764I|.	ENSP00000370381:L764I|ENSP00000410367:S576Y	L|S	+|+	1|2	0|0	SLC12A1|SLC12A1	46347185|46347185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	6.672000|6.672000	0.74477|0.74477	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.468	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
FBN1	2200	broad.mit.edu	37	15	48703453	48703453	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48703453G>T	ENST00000316623.5	-	66	8805	c.8350C>A	c.(8350-8352)Ctt>Att	p.L2784I	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2784					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L2784I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGTTGTAAGAGCTGGAAGG	0.418																																					p.L2784I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8350A	15						.						158.0	151.0	154.0					15																	48703453		2198	4297	6495	46490745	SO:0001583	missense	2200	exon66			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8350C>A	15.37:g.48703453G>T	ENSP00000325527:p.Leu2784Ile		46490745	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215720	0.39102	.	.	ENSG00000166147	ENST00000316623	D	0.81908	-1.55	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	L	0.41415	1.275	0.50171	D	0.999855	D	0.63880	0.993	D	0.70016	0.967	T	0.82926	-0.0215	10	0.21540	T	0.41	.	18.2948	0.90141	0.0:0.0:1.0:0.0	.	2784	P35555	FBN1_HUMAN	I	2784	ENSP00000325527:L2784I	ENSP00000325527:L2784I	L	-	1	0	FBN1	46490745	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	6.061000	0.71148	2.727000	0.93392	0.650000	0.86243	CTT		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48707951	48707951	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48707951G>A	ENST00000316623.5	-	64	8288	c.7833C>T	c.(7831-7833)tgC>tgT	p.C2611C	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2611	EGF-like 46; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2611C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAGCGCTGAGGCATTCGTTTT	0.552																																					p.C2611C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7833T	15						.						68.0	64.0	66.0					15																	48707951		2198	4296	6494	46495243	SO:0001819	synonymous_variant	2200	exon64			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7833C>T	15.37:g.48707951G>A			46495243	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.552	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48729218	48729218	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48729218C>A	ENST00000316623.5	-	53	6891	c.6436G>T	c.(6436-6438)Gat>Tat	p.D2146Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2146	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D2146Y(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGGAACCATCTGTATTGATG	0.358																																					p.D2146Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6436T	15						.						120.0	115.0	117.0					15																	48729218		2198	4296	6494	46516510	SO:0001583	missense	2200	exon53			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6436G>T	15.37:g.48729218C>A	ENSP00000325527:p.Asp2146Tyr		46516510	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966343	0.92855	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92348	-3.02	5.77	5.77	0.91146	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94588	0.7785	10	0.56958	D	0.05	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	2146	P35555	FBN1_HUMAN	Y	2146;714;1036	ENSP00000325527:D2146Y	ENSP00000325527:D2146Y	D	-	1	0	FBN1	46516510	1.000000	0.71417	0.708000	0.30435	0.874000	0.50279	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GAT		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48729989	48729989	+	Missense_Mutation	SNP	C	C	T	rs397515831		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48729989C>T	ENST00000316623.5	-	51	6744	c.6289G>A	c.(6289-6291)Gag>Aag	p.E2097K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2097	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2097K(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGCAGAGCTCGCAGGGGTCT	0.532																																					p.E2097K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6289A	15						.						84.0	74.0	78.0					15																	48729989		2198	4296	6494	46517281	SO:0001583	missense	2200	exon51			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6289G>A	15.37:g.48729989C>T	ENSP00000325527:p.Glu2097Lys		46517281	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656063	0.96724	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.95885	-3.84	5.65	4.73	0.59995	Matrix fibril-associated (3);TGF-beta binding (1);	0.132156	0.64402	N	0.000002	D	0.95207	0.8446	M	0.84511	2.7	0.80722	D	1	B	0.23990	0.095	B	0.24006	0.05	D	0.93784	0.7086	10	0.40728	T	0.16	.	14.5447	0.68020	0.0:0.9296:0.0:0.0704	.	2097	P35555	FBN1_HUMAN	K	2097;665;987	ENSP00000325527:E2097K	ENSP00000325527:E2097K	E	-	1	0	FBN1	46517281	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.651000	0.83577	1.626000	0.50381	0.655000	0.94253	GAG		0.532	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48748865	48748865	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48748865G>T	ENST00000316623.5	-	44	5846	c.5391C>A	c.(5389-5391)ttC>ttA	p.F1797L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1797	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.F1797L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTATAGAAGAATCCCACTG	0.433																																					p.F1797L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5391A	15						.						159.0	144.0	149.0					15																	48748865		2198	4296	6494	46536157	SO:0001583	missense	2200	exon44			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5391C>A	15.37:g.48748865G>T	ENSP00000325527:p.Phe1797Leu		46536157	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794695	0.90453	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93488	-3.23	5.8	2.95	0.34219	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	M	0.65320	2	0.80722	D	1	P	0.34462	0.454	B	0.34931	0.192	D	0.87147	0.2206	10	0.49607	T	0.09	.	11.1164	0.48262	0.1919:0.0:0.8081:0.0	.	1797	P35555	FBN1_HUMAN	L	1797;365;687	ENSP00000325527:F1797L	ENSP00000325527:F1797L	F	-	3	2	FBN1	46536157	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.142000	0.58044	0.382000	0.24878	0.655000	0.94253	TTC		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48764844	48764844	+	Missense_Mutation	SNP	G	G	T	rs376840416		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48764844G>T	ENST00000316623.5	-	35	4695	c.4240C>A	c.(4240-4242)Ctc>Atc	p.L1414I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1414	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L1414I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGCCACAGAGATTCAGGTTC	0.512																																					p.L1414I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4240A	15						.						120.0	112.0	115.0					15																	48764844		2198	4296	6494	46552136	SO:0001583	missense	2200	exon35			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4240C>A	15.37:g.48764844G>T	ENSP00000325527:p.Leu1414Ile		46552136	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225663	0.79576	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.92965	-3.14	5.81	3.83	0.44106	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	N	0.13043	0.29	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.90379	0.4386	10	0.54805	T	0.06	.	11.0483	0.47872	0.1605:0.0:0.8395:0.0	.	1414	P35555	FBN1_HUMAN	I	1414;304	ENSP00000325527:L1414I	ENSP00000325527:L1414I	L	-	1	0	FBN1	46552136	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.965000	0.56788	0.703000	0.31848	0.650000	0.86243	CTC		0.512	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48776109	48776109	+	Silent	SNP	G	G	T	rs201786043		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48776109G>T	ENST00000316623.5	-	31	4199	c.3744C>A	c.(3742-3744)atC>atA	p.I1248I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1248	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.I1248I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACCATCACAGATATTGGGAT	0.408																																					p.I1248I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3744A	15						.						144.0	113.0	123.0					15																	48776109		2198	4296	6494	46563401	SO:0001819	synonymous_variant	2200	exon31			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3744C>A	15.37:g.48776109G>T			46563401	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.408	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48797303	48797303	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:48797303G>A	ENST00000316623.5	-	16	2334	c.1879C>T	c.(1879-1881)Cgt>Tgt	p.R627C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	627	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		R -> C (in MFS; enhances proteolytic degradation). {ECO:0000269|PubMed:16220557, ECO:0000269|PubMed:8004112, ECO:0000269|PubMed:9338581}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R627C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGACGCAACGCCCATTCATG	0.448																																					p.R627C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1879T	15	GRCh37	CM940760	FBN1	M		.						156.0	144.0	148.0					15																	48797303		2197	4296	6493	46584595	SO:0001583	missense	2200	exon16			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1879C>T	15.37:g.48797303G>A	ENSP00000325527:p.Arg627Cys		46584595	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852113	0.91355	.	.	ENSG00000166147	ENST00000316623	T	0.72725	-0.68	5.67	5.67	0.87782	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.099514	0.64402	D	0.000001	D	0.83912	0.5357	M	0.90870	3.155	0.80722	D	1	D	0.69078	0.997	P	0.53146	0.719	D	0.85961	0.1470	10	0.44086	T	0.13	.	18.3401	0.90302	0.0:0.0:1.0:0.0	.	627	P35555	FBN1_HUMAN	C	627	ENSP00000325527:R627C	ENSP00000325527:R627C	R	-	1	0	FBN1	46584595	1.000000	0.71417	0.735000	0.30896	0.656000	0.38851	9.869000	0.99810	2.684000	0.91462	0.650000	0.86243	CGT		0.448	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CEP152	22995	broad.mit.edu	37	15	49030779	49030779	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49030779T>C	ENST00000380950.2	-	27	4987	c.4800A>G	c.(4798-4800)gaA>gaG	p.E1600E	CEP152_ENST00000399334.3_Silent_p.E1544E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1600					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E1544E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACTTGGTATTTCCAAAGTTC	0.413																																					p.E1600E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4800G	15						.						98.0	98.0	98.0					15																	49030779		1892	4123	6015	46818071	SO:0001819	synonymous_variant	22995	exon27			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4800A>G	15.37:g.49030779T>C			46818071	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49037157	49037157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49037157C>A	ENST00000380950.2	-	23	3854	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.E1167*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.E1130*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1223					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E1167*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTGTTTTCTTCTATTAATTCT	0.259																																					p.E1223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3667T	15						.						75.0	69.0	71.0					15																	49037157		1770	4031	5801	46824449	SO:0001587	stop_gained	22995	exon23			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3667G>T	15.37:g.49037157C>A	ENSP00000370337:p.Glu1223*		46824449	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	42	9.416093	0.99164	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	5.14	3.25	0.37280	.	0.224802	0.38217	N	0.001780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-9.3148	8.9304	0.35666	0.0:0.7718:0.1488:0.0794	.	.	.	.	X	1223;1130;1167	.	ENSP00000321000:E1130X	E	-	1	0	CEP152	46824449	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.975000	0.49281	0.752000	0.32923	-0.515000	0.04445	GAA		0.259	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49054632	49054632	+	Missense_Mutation	SNP	C	C	T	rs544161048	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49054632C>T	ENST00000380950.2	-	18	2705	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	CEP152_ENST00000399334.3_Missense_Mutation_p.E840K|CEP152_ENST00000325747.5_Missense_Mutation_p.E747K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	840					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E840K(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AATTCAATTTCGAGTTTCTTC	0.358													C|||	12	0.00239617	0.0	0.0	5008	,	,		19086	0.0		0.0	False		,,,				2504	0.0123				p.E840K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2518A	15						.						156.0	139.0	144.0					15																	49054632		1824	4081	5905	46841924	SO:0001583	missense	22995	exon18			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2518G>A	15.37:g.49054632C>T	ENSP00000370337:p.Glu840Lys		46841924	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507606	0.44558	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.58652	0.32;0.38;0.38	5.18	4.26	0.50523	.	0.122489	0.56097	D	0.000035	T	0.71567	0.3355	L	0.59436	1.845	0.26981	N	0.965359	D;D;D	0.89917	1.0;0.991;1.0	D;P;D	0.85130	0.992;0.847;0.997	T	0.66073	-0.6014	10	0.66056	D	0.02	-19.0376	14.1312	0.65255	0.0:0.8497:0.1503:0.0	.	747;840;840	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	K	840;747;840	ENSP00000370337:E840K;ENSP00000321000:E747K;ENSP00000382271:E840K	ENSP00000321000:E747K	E	-	1	0	CEP152	46841924	0.921000	0.31238	0.048000	0.18961	0.114000	0.19823	1.897000	0.39799	1.534000	0.49203	0.650000	0.86243	GAA		0.358	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49089912C>T	ENST00000380950.2	-	4	394	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_ENST00000399334.3_Silent_p.E69E|CEP152_ENST00000325747.5_Silent_p.E69E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E69E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388																																					p.E69E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G207A	15						.						170.0	154.0	159.0					15																	49089912		1939	4136	6075	46877204	SO:0001819	synonymous_variant	22995	exon4			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.207G>A	15.37:g.49089912C>T			46877204	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	CCDS58361.1																																																																																				0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49097786	49097786	+	Missense_Mutation	SNP	C	C	T	rs187563127	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49097786C>T	ENST00000380950.2	-	2	248	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	CEP152_ENST00000399334.3_Missense_Mutation_p.E21K|CEP152_ENST00000325747.5_Missense_Mutation_p.E21K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	21					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E21K(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TAGTCCTCTTCGTCATACTCT	0.363													T|||	5	0.000998403	0.003	0.0014	5008	,	,		15074	0.0		0.0	False		,,,				2504	0.0				p.E21K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G61A	15						.	T	LYS/GLU,LYS/GLU	18,3654		2,14,1820	174.0	149.0	157.0		61,61	1.3	1.0	15		157	0,8172		0,0,4086	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	56,56	2,14,5906	TT,TC,CC		0.0,0.4902,0.152	benign,benign	21/1711,21/1655	49097786	18,11826	1836	4086	5922	46885078	SO:0001583	missense	22995	exon2			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.61G>A	15.37:g.49097786C>T	ENSP00000370337:p.Glu21Lys		46885078	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	0.957	-0.704547	0.03255	0.004902	0.0	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.47528	2.07;0.84;2.07	5.03	1.32	0.21799	.	0.294591	0.37857	N	0.001920	T	0.07007	0.0178	N	0.00246	-1.78	0.21325	N	0.999726	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.38351	-0.9665	10	0.02654	T	1	-2.7725	6.9884	0.24741	0.0:0.1583:0.3308:0.5109	.	21;21;21	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	K	21	ENSP00000370337:E21K;ENSP00000321000:E21K;ENSP00000382271:E21K	ENSP00000321000:E21K	E	-	1	0	CEP152	46885078	1.000000	0.71417	0.999000	0.59377	0.449000	0.32228	1.177000	0.31969	0.078000	0.16900	-1.301000	0.01330	GAA		0.363	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
SECISBP2L	9728	broad.mit.edu	37	15	49288645	49288645	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49288645G>A	ENST00000559471.1	-	17	2805	c.2542C>T	c.(2542-2544)Cgg>Tgg	p.R848W	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R803W|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	848							poly(A) RNA binding (GO:0044822)	p.R803W(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GAGGGATTCCGAGAATGTCCC	0.418																																					p.R803W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2407T	15						.						236.0	216.0	223.0					15																	49288645		2197	4295	6492	47075937	SO:0001583	missense	9728	exon16			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2542C>T	15.37:g.49288645G>A	ENSP00000453854:p.Arg848Trp		47075937	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578486	0.86645	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.93189	-3.18	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	L	0.29908	0.895	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	D	0.95400	0.8489	10	0.87932	D	0	.	18.3573	0.90362	0.0:0.0:1.0:0.0	.	848;803	Q93073;Q93073-2	SBP2L_HUMAN;.	W	803;848	ENSP00000261847:R803W	ENSP00000261847:R803W	R	-	1	2	SECISBP2L	47075937	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.276000	0.78559	2.569000	0.86673	0.650000	0.86243	CGG		0.418	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
SECISBP2L	9728	broad.mit.edu	37	15	49301541	49301541	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49301541G>A	ENST00000559471.1	-	14	2162	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	SECISBP2L_ENST00000261847.3_Silent_p.L588L	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	633							poly(A) RNA binding (GO:0044822)	p.L588L(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTGCTGGAGAGAGTGAAGTAT	0.428																																					p.L588L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1764T	15						.						166.0	150.0	156.0					15																	49301541		2197	4295	6492	47088833	SO:0001819	synonymous_variant	9728	exon13			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1899C>T	15.37:g.49301541G>A			47088833	NM_014701	Q8N767	Silent	SNP	ENST00000559471.1	37	CCDS53942.1																																																																																				0.428	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
SECISBP2L	9728	broad.mit.edu	37	15	49303970	49303970	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49303970C>A	ENST00000559471.1	-	13	2085	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.D563Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	608							poly(A) RNA binding (GO:0044822)	p.D563Y(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCAATAAAATCTAAGTGCATT	0.403																																					p.D563Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1687T	15						.						124.0	124.0	124.0					15																	49303970		2197	4295	6492	47091262	SO:0001583	missense	9728	exon12			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1822G>T	15.37:g.49303970C>A	ENSP00000453854:p.Asp608Tyr		47091262	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830183	0.50845	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.73363	-0.74	5.29	5.29	0.74685	.	0.222920	0.47093	D	0.000246	T	0.62282	0.2415	L	0.43152	1.355	0.38497	D	0.948133	B;P	0.40834	0.055;0.73	B;B	0.36845	0.03;0.234	T	0.67795	-0.5578	10	0.59425	D	0.04	.	6.3555	0.21398	0.0:0.79:0.0:0.21	.	608;563	Q93073;Q93073-2	SBP2L_HUMAN;.	Y	563;608	ENSP00000261847:D563Y	ENSP00000261847:D563Y	D	-	1	0	SECISBP2L	47091262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.754000	0.47532	2.760000	0.94817	0.557000	0.71058	GAT		0.403	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
SECISBP2L	9728	broad.mit.edu	37	15	49327568	49327568	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49327568C>T	ENST00000559471.1	-	3	754	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R164Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	164							poly(A) RNA binding (GO:0044822)	p.R164Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTTTCTGCTTCGATGGCTGGA	0.413																																					p.R164Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G491A	15						.						138.0	131.0	133.0					15																	49327568		2197	4295	6492	47114860	SO:0001583	missense	9728	exon3			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.491G>A	15.37:g.49327568C>T	ENSP00000453854:p.Arg164Gln		47114860	NM_014701	Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605993	0.87157	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.88896	-2.44	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.90903	0.7141	L	0.34521	1.04	0.43693	D	0.996141	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.91155	0.4956	10	0.51188	T	0.08	.	14.4083	0.67099	0.0:0.929:0.0:0.071	.	164;164	Q93073;Q93073-2	SBP2L_HUMAN;.	Q	164	ENSP00000261847:R164Q	ENSP00000261847:R164Q	R	-	2	0	SECISBP2L	47114860	1.000000	0.71417	0.859000	0.33776	0.745000	0.42441	5.257000	0.65473	1.354000	0.45846	0.655000	0.94253	CGA		0.413	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701	
GALK2	2585	broad.mit.edu	37	15	49528114	49528114	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49528114C>A	ENST00000560031.1	+	4	640	c.333C>A	c.(331-333)ttC>ttA	p.F111L	GALK2_ENST00000327171.3_Missense_Mutation_p.F100L|GALK2_ENST00000544523.1_Missense_Mutation_p.F87L|GALK2_ENST00000543495.1_5'UTR|GALK2_ENST00000559454.1_Missense_Mutation_p.F87L|GALK2_ENST00000396509.2_Missense_Mutation_p.F87L			Q01415	GALK2_HUMAN	galactokinase 2	111					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.F100L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		ACAACTATTTCTTATGTGGAC	0.333																																					p.F111L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C333A	15						.						166.0	172.0	170.0					15																	49528114		2196	4295	6491	47315406	SO:0001583	missense	2585	exon4				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.333C>A	15.37:g.49528114C>A	ENSP00000453129:p.Phe111Leu		47315406	NM_002044	Q7Z4Q4	Missense_Mutation	SNP	ENST00000560031.1	37	CCDS42034.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482307	0.84747	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.82893	-1.66;-1.66	5.7	5.7	0.88788	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.90584	0.7048	M	0.90977	3.165	0.80722	D	1	D;P	0.62365	0.991;0.938	P;B	0.55615	0.78;0.428	D	0.92095	0.5683	10	0.72032	D	0.01	-20.5779	13.0794	0.59104	0.0:0.9269:0.0:0.0731	.	111;100	Q01415;Q7Z4Q4	GALK2_HUMAN;.	L	100;111;87	ENSP00000316632:F100L;ENSP00000440312:F87L	ENSP00000316632:F100L	F	+	3	2	GALK2	47315406	0.998000	0.40836	0.991000	0.47740	0.983000	0.72400	2.146000	0.42216	2.697000	0.92050	0.557000	0.71058	TTC		0.333	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417854.1		
FAM227B	196951	broad.mit.edu	37	15	49869034	49869034	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49869034G>A	ENST00000299338.6	-	7	753	c.450C>T	c.(448-450)agC>agT	p.S150S	FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000561064.1_Silent_p.S150S|FAM227B_ENST00000560246.1_3'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	150								p.S150S(2)									ATCCTGTGAAGCTGCAACCCT	0.323																																					p.S150S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C450T	15						.						37.0	40.0	39.0					15																	49869034		2196	4295	6491	47656326	SO:0001819	synonymous_variant	196951	exon7				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.450C>T	15.37:g.49869034G>A			47656326	NM_152647	Q86WS2	Silent	SNP	ENST00000299338.6	37	CCDS32237.1																																																																																				0.323	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
FAM227B	196951	broad.mit.edu	37	15	49903463	49903463	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49903463T>A	ENST00000299338.6	-	3	357	c.54A>T	c.(52-54)aaA>aaT	p.K18N	FAM227B_ENST00000558594.1_Missense_Mutation_p.K18N|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.K18N|FAM227B_ENST00000560246.1_Missense_Mutation_p.K18N	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	18								p.K18N(1)									GTTCTTGCATTTTCTAATAAA	0.254																																					p.K18N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A54T	15						.						55.0	57.0	56.0					15																	49903463		2193	4282	6475	47690755	SO:0001583	missense	196951	exon3				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.54A>T	15.37:g.49903463T>A	ENSP00000299338:p.Lys18Asn		47690755	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506724	0.26949	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.63	4.63	0.57726	.	0.790089	0.11307	N	0.577538	T	0.57169	0.2035	L	0.54323	1.7	0.80722	D	1	P;P	0.44429	0.665;0.835	B;B	0.43728	0.429;0.429	T	0.58880	-0.7558	9	0.62326	D	0.03	6.5123	10.6289	0.45523	0.0:0.0:0.0:1.0	.	18;18	Q96M60-2;Q96M60	.;CO033_HUMAN	N	18	.	ENSP00000299338:K18N	K	-	3	2	C15orf33	47690755	0.701000	0.27806	0.486000	0.27416	0.072000	0.16883	2.098000	0.41757	2.073000	0.62155	0.533000	0.62120	AAA		0.254	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
DTWD1	56986	broad.mit.edu	37	15	49926782	49926782	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:49926782C>A	ENST00000251250.6	+	5	665	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DTWD1_ENST00000403028.3_Missense_Mutation_p.S153Y|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.S66Y|DTWD1_ENST00000558653.1_Missense_Mutation_p.S153Y	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	153								p.S153Y(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAGATATTTCTTTTCATCTG	0.338																																					p.S153Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C458A	15						.						42.0	46.0	45.0					15																	49926782		2196	4293	6489	47714074	SO:0001583	missense	56986	exon4			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.458C>A	15.37:g.49926782C>A	ENSP00000251250:p.Ser153Tyr		47714074	NM_001144955	Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965739	0.18583	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.23950	1.88;1.88	4.95	4.95	0.65309	DTW (1);	0.532611	0.21854	N	0.068131	T	0.37785	0.1016	M	0.61703	1.905	0.80722	D	1	P;P	0.47034	0.834;0.889	B;P	0.48982	0.311;0.597	T	0.09207	-1.0685	9	.	.	.	-13.0043	16.7372	0.85449	0.0:1.0:0.0:0.0	.	66;153	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	Y	153;153;66	ENSP00000385399:S153Y;ENSP00000251250:S153Y	.	S	+	2	0	DTWD1	47714074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.179000	0.31993	2.455000	0.83008	0.655000	0.94253	TCT		0.338	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234	
ATP8B4	79895	broad.mit.edu	37	15	50154525	50154525	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50154525G>T	ENST00000284509.6	-	27	3355	c.3214C>A	c.(3214-3216)Ctc>Atc	p.L1072I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.L1072I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1072						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.L1072I(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTTGTTAAGAGAATTACAAGC	0.408																																					p.L1072I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3214A	15						.						91.0	83.0	86.0					15																	50154525		2196	4295	6491	47941817	SO:0001583	missense	79895	exon27			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3214C>A	15.37:g.50154525G>T	ENSP00000284509:p.Leu1072Ile		47941817	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	3.159	-0.172483	0.06421	.	.	ENSG00000104043	ENST00000284509	T	0.63096	-0.02	5.36	2.13	0.27403	.	0.452476	0.21862	N	0.068005	T	0.34571	0.0902	N	0.21583	0.68	0.27725	N	0.945007	P;B	0.40553	0.721;0.017	B;B	0.34652	0.187;0.013	T	0.09930	-1.0652	10	0.16420	T	0.52	.	2.186	0.03887	0.1655:0.1598:0.51:0.1646	.	150;1072	Q6PG43;Q8TF62	.;AT8B4_HUMAN	I	1072	ENSP00000284509:L1072I	ENSP00000284509:L1072I	L	-	1	0	ATP8B4	47941817	1.000000	0.71417	0.999000	0.59377	0.483000	0.33249	0.954000	0.29175	1.215000	0.43411	0.563000	0.77884	CTC		0.408	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
ATP8B4	79895	broad.mit.edu	37	15	50264787	50264787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50264787C>A	ENST00000284509.6	-	13	1376	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R412I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	412						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.R412I(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCATAGATTCTCCCATTAAT	0.348																																					p.R412I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235T	15						.						82.0	71.0	75.0					15																	50264787		2196	4295	6491	48052079	SO:0001583	missense	79895	exon13			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1235G>T	15.37:g.50264787C>A	ENSP00000284509:p.Arg412Ile		48052079	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298249	0.40694	.	.	ENSG00000104043	ENST00000284509	T	0.62639	0.01	5.08	-0.109	0.13584	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.726076	0.13544	N	0.379999	T	0.36441	0.0967	N	0.10629	0.01	0.23156	N	0.998203	B	0.14438	0.01	B	0.21546	0.035	T	0.24548	-1.0157	10	0.17369	T	0.5	.	8.7319	0.34505	0.0:0.4908:0.0:0.5092	.	412	Q8TF62	AT8B4_HUMAN	I	412	ENSP00000284509:R412I	ENSP00000284509:R412I	R	-	2	0	ATP8B4	48052079	0.000000	0.05858	0.980000	0.43619	0.969000	0.65631	-0.552000	0.06020	-0.043000	0.13513	0.650000	0.86243	AGA		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
HDC	3067	broad.mit.edu	37	15	50544660	50544660	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50544660C>T	ENST00000267845.3	-	9	1410	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	HDC_ENST00000543581.1_Silent_p.R336R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.R336R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGTTGGCATGCCTGAGGTAGA	0.597																																					p.R336R	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1008A	15						.						178.0	143.0	155.0					15																	50544660		2196	4295	6491	48331952	SO:0001819	synonymous_variant	3067	exon9				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1008G>A	15.37:g.50544660C>T			48331952	NM_002112		Silent	SNP	ENST00000267845.3	37	CCDS10134.1																																																																																				0.597	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
HDC	3067	broad.mit.edu	37	15	50550644	50550644	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50550644C>A	ENST00000267845.3	-	3	677	c.275G>T	c.(274-276)gGa>gTa	p.G92V	HDC_ENST00000543581.1_Missense_Mutation_p.G92V	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0	Ala/Gly-rich.				respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.G92V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CAGCATGTCTCCTAGCAGGGA	0.577																																					p.G92V	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275T	15						.						89.0	76.0	80.0					15																	50550644		2196	4295	6491	48337936	SO:0001583	missense	3067	exon3				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.275G>T	15.37:g.50550644C>A	ENSP00000267845:p.Gly92Val		48337936	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099930	0.94197	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.52526	0.66;0.66	5.69	5.69	0.88448	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86162	0.1594	10	0.87932	D	0	-15.4907	19.8006	0.96506	0.0:1.0:0.0:0.0	.	92;92	B7ZM01;P19113	.;DCHS_HUMAN	V	92	ENSP00000267845:G92V;ENSP00000440252:G92V	ENSP00000267845:G92V	G	-	2	0	HDC	48337936	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.975000	0.70475	2.687000	0.91594	0.462000	0.41574	GGA		0.577	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
GABPB1	2553	broad.mit.edu	37	15	50570923	50570923	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50570923C>T	ENST00000220429.8	-	9	1262	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	GABPB1_ENST00000543881.1_Missense_Mutation_p.R289Q|GABPB1_ENST00000380877.3_Missense_Mutation_p.R353Q			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	365					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R365Q(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						GAGCTGCTGTCGATATTTTTG	0.368																																					p.R365Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1094A	15						.						153.0	137.0	143.0					15																	50570923		2196	4295	6491	48358215	SO:0001583	missense	2553	exon9			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.1094G>A	15.37:g.50570923C>T	ENSP00000220429:p.Arg365Gln		48358215	NM_005254	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.697959	0.68386	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881	T	0.61859	0.07	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000010	T	0.70237	0.3201	L	0.39147	1.195	0.80722	D	1	D;D	0.69078	0.997;0.988	D;B	0.67725	0.953;0.382	T	0.71017	-0.4714	10	0.87932	D	0	-2.9041	20.3172	0.98658	0.0:1.0:0.0:0.0	.	365;353	Q06547;Q06547-2	GABP1_HUMAN;.	Q	353;365;289	ENSP00000442500:R289Q	ENSP00000220429:R353Q	R	-	2	0	GABPB1	48358215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.792000	0.75125	2.801000	0.96364	0.650000	0.86243	CGA		0.368	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
GABPB1	2553	broad.mit.edu	37	15	50578348	50578348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50578348C>A	ENST00000220429.8	-	8	1120	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	GABPB1_ENST00000560825.1_Nonsense_Mutation_p.E305*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.E306*|GABPB1_ENST00000359031.4_Nonsense_Mutation_p.E306*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.E318*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.E242*|GABPB1_ENST00000380877.3_Nonsense_Mutation_p.E306*			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	318	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E318*(1)		cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ATAACAGTTTCTTCAGCAATG	0.313																																					p.E318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G952T	15						.						86.0	86.0	86.0					15																	50578348		2196	4295	6491	48365640	SO:0001587	stop_gained	2553	exon8			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.952G>T	15.37:g.50578348C>A	ENSP00000220429:p.Glu318*		48365640	NM_002041	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Nonsense_Mutation	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	37	6.540495	0.97650	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.4616	19.9379	0.97147	0.0:1.0:0.0:0.0	.	.	.	.	X	306;318;242;306;318;306	.	ENSP00000220429:E306X	E	-	1	0	GABPB1	48365640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.710000	0.92621	0.555000	0.69702	GAA		0.313	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1		
USP8	9101	broad.mit.edu	37	15	50773953	50773953	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50773953A>G	ENST00000396444.3	+	11	1832	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E	USP8_ENST00000307179.4_Silent_p.E498E|USP8_ENST00000433963.1_Silent_p.E498E|USP8_ENST00000425032.3_Silent_p.E421E	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	498					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E498E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ggaaggaagaacaagaacaaa	0.353																																					p.E498E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1494G	15						.						50.0	58.0	55.0					15																	50773953		2195	4293	6488	48561245	SO:0001819	synonymous_variant	9101	exon12			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1494A>G	15.37:g.50773953A>G			48561245	NM_001128611	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.353	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
USP8	9101	broad.mit.edu	37	15	50786372	50786372	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50786372A>C	ENST00000396444.3	+	16	2891	c.2553A>C	c.(2551-2553)aaA>aaC	p.K851N	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Missense_Mutation_p.K851N|USP8_ENST00000433963.1_Missense_Mutation_p.K851N|USP8_ENST00000425032.3_Missense_Mutation_p.K745N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	851	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.K851N(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGGACTTTAAAATCACCATTG	0.398																																					p.K851N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2553C	15						.						133.0	127.0	129.0					15																	50786372		2196	4294	6490	48573664	SO:0001583	missense	9101	exon17			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2553A>C	15.37:g.50786372A>C	ENSP00000379721:p.Lys851Asn		48573664	NM_001128611	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.798212	0.70567	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.18	1.62	0.23740	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.74258	2.255	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71656	0.951;0.974	T	0.53041	-0.8494	10	0.72032	D	0.01	-26.408	8.4213	0.32703	0.617:0.0:0.383:0.0	.	745;851	B4DKA8;P40818	.;UBP8_HUMAN	N	851;851;851;745;76;71	ENSP00000379721:K851N;ENSP00000405537:K851N;ENSP00000302239:K851N;ENSP00000412682:K745N	ENSP00000302239:K851N	K	+	3	2	USP8	48573664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.995000	0.40767	0.390000	0.25115	-0.263000	0.10527	AAA		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
USP50	373509	broad.mit.edu	37	15	50831000	50831000	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50831000C>T	ENST00000532404.1	-	5	882	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	242	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.E242K(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGTGAATTTCGTTGTTCCAG	0.403																																					p.E237K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G709A	15						.						91.0	85.0	87.0					15																	50831000		1866	4092	5958	48618292	SO:0001583	missense	373509	exon5			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.709G>A	15.37:g.50831000C>T	ENSP00000434676:p.Glu237Lys		48618292	NM_203494	E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453378	0.26161	.	.	ENSG00000170236	ENST00000532404	T	0.25085	1.82	5.41	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.212594	0.40302	N	0.001137	T	0.10165	0.0249	N	0.01277	-0.915	0.23762	N	0.996915	B	0.24092	0.097	B	0.14023	0.01	T	0.20773	-1.0265	10	0.56958	D	0.05	-3.8294	13.4742	0.61299	0.0:0.159:0.841:0.0	.	242	Q70EL3	UBP50_HUMAN	K	237	ENSP00000434676:E237K	ENSP00000434014:E12K	E	-	1	0	USP50	48618292	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	4.048000	0.57390	1.303000	0.44873	-0.182000	0.12963	GAA		0.403	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1		
USP50	373509	broad.mit.edu	37	15	50835867	50835867	+	Silent	SNP	C	C	T	rs548734276		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50835867C>T	ENST00000532404.1	-	3	545	c.372G>A	c.(370-372)acG>acA	p.T124T	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	129	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.T129T(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GCATCTTTTTCGTAAATGCTG	0.408													c|||	1	0.000199681	0.0	0.0	5008	,	,		20117	0.001		0.0	False		,,,				2504	0.0				p.T124T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	15						.						65.0	60.0	61.0					15																	50835867		1861	4110	5971	48623159	SO:0001819	synonymous_variant	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.372G>A	15.37:g.50835867C>T			48623159	NM_203494	E9PP86	Silent	SNP	ENST00000532404.1	37	CCDS53944.1																																																																																				0.408	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1		
TRPM7	54822	broad.mit.edu	37	15	50853889	50853889	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50853889G>A	ENST00000313478.7	-	39	5865	c.5584C>T	c.(5584-5586)Cgt>Tgt	p.R1862C	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1861C|TRPM7_ENST00000561443.1_5'UTR|RP11-120K9.2_ENST00000558237.1_RNA	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1862					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1861C(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AACATCAGACGAACAGAATTA	0.363																																					p.R1862C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5584T	15						.						51.0	51.0	51.0					15																	50853889		1841	4092	5933	48641181	SO:0001583	missense	54822	exon39			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.5584C>T	15.37:g.50853889G>A	ENSP00000320239:p.Arg1862Cys		48641181	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605475	0.66445	.	.	ENSG00000092439	ENST00000313478	T	0.57436	0.4	4.77	4.77	0.60923	.	0.093884	0.42172	D	0.000751	T	0.59851	0.2224	M	0.66939	2.045	0.58432	D	0.999997	D	0.67145	0.996	P	0.47528	0.549	T	0.68116	-0.5494	10	0.87932	D	0	-13.6287	17.9592	0.89079	0.0:0.0:1.0:0.0	.	1862	Q96QT4	TRPM7_HUMAN	C	1862	ENSP00000320239:R1862C	ENSP00000320239:R1862C	R	-	1	0	TRPM7	48641181	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.492000	0.73654	2.470000	0.83445	0.585000	0.79938	CGT		0.363	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50901830	50901830	+	Missense_Mutation	SNP	C	C	T	rs377252016		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50901830C>T	ENST00000313478.7	-	19	2809	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.R843Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	843					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R843Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATAAAACTTTCGCGTAATTGG	0.299																																					p.R843Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2528A	15						.	C	GLN/ARG	1,3651		0,1,1825	177.0	165.0	169.0		2528	5.6	1.0	15		169	0,8140		0,0,4070	no	missense	TRPM7	NM_017672.4	43	0,1,5895	TT,TC,CC		0.0,0.0274,0.0085	benign	843/1866	50901830	1,11791	1826	4070	5896	48689122	SO:0001583	missense	54822	exon19			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2528G>A	15.37:g.50901830C>T	ENSP00000320239:p.Arg843Gln		48689122	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259084	0.59321	2.74E-4	0.0	ENSG00000092439	ENST00000313478	D	0.83914	-1.78	5.59	5.59	0.84812	.	0.060945	0.64402	D	0.000005	T	0.75004	0.3791	L	0.41710	1.295	0.42123	D	0.991433	B	0.21071	0.051	B	0.09377	0.004	T	0.71490	-0.4577	10	0.51188	T	0.08	-10.1931	9.8132	0.40835	0.0:0.8419:0.0:0.1581	.	843	Q96QT4	TRPM7_HUMAN	Q	843	ENSP00000320239:R843Q	ENSP00000320239:R843Q	R	-	2	0	TRPM7	48689122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.738000	0.62073	2.645000	0.89757	0.467000	0.42956	CGA		0.299	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50929630	50929630	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50929630C>A	ENST00000313478.7	-	7	1102	c.821G>T	c.(820-822)aGa>aTa	p.R274I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R274I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	274					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R274I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGCATGAATTCTTTGCTGATT	0.363																																					p.R274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821T	15						.						83.0	79.0	80.0					15																	50929630		1849	4088	5937	48716922	SO:0001583	missense	54822	exon7			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.821G>T	15.37:g.50929630C>A	ENSP00000320239:p.Arg274Ile		48716922	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202032	0.58234	.	.	ENSG00000092439	ENST00000313478	T	0.61040	0.14	5.36	5.36	0.76844	.	0.047465	0.85682	D	0.000000	T	0.54398	0.1856	L	0.49126	1.545	0.58432	D	0.999998	P	0.47841	0.901	B	0.38616	0.277	T	0.63024	-0.6729	10	0.87932	D	0	-17.3852	19.3357	0.94316	0.0:1.0:0.0:0.0	.	274	Q96QT4	TRPM7_HUMAN	I	274	ENSP00000320239:R274I	ENSP00000320239:R274I	R	-	2	0	TRPM7	48716922	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.192000	0.50989	2.805000	0.96524	0.650000	0.86243	AGA		0.363	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50949997	50949997	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:50949997T>A	ENST00000313478.7	-	3	384	c.103A>T	c.(103-105)Att>Ttt	p.I35F	TRPM7_ENST00000560955.1_Missense_Mutation_p.I35F	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	35					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I35F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGCTGACAAATTTGACATCCT	0.274																																					p.I35F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A103T	15						.						58.0	52.0	54.0					15																	50949997		1791	4066	5857	48737289	SO:0001583	missense	54822	exon3			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.103A>T	15.37:g.50949997T>A	ENSP00000320239:p.Ile35Phe		48737289	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.992734	0.74703	.	.	ENSG00000092439	ENST00000313478	T	0.61980	0.06	4.92	4.92	0.64577	.	0.586820	0.15891	N	0.239543	T	0.54143	0.1840	N	0.20685	0.6	0.50467	D	0.999879	P	0.52316	0.952	P	0.46585	0.521	T	0.58239	-0.7671	10	0.52906	T	0.07	-14.4261	14.5931	0.68383	0.0:0.0:0.0:1.0	.	35	Q96QT4	TRPM7_HUMAN	F	35	ENSP00000320239:I35F	ENSP00000320239:I35F	I	-	1	0	TRPM7	48737289	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.704000	0.68347	1.863000	0.54032	0.528000	0.53228	ATT		0.274	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
SPPL2A	84888	broad.mit.edu	37	15	51040897	51040897	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51040897A>G	ENST00000261854.5	-	3	622	c.348T>C	c.(346-348)aaT>aaC	p.N116N	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	116	PA.				membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.N116N(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GGACACTGTTATTGACAACTA	0.358																																					p.N116N	Melanoma(50;790 1209 4069 22965 33125)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T348C	15						.						149.0	151.0	151.0					15																	51040897		2196	4294	6490	48828189	SO:0001819	synonymous_variant	84888	exon3				CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.348T>C	15.37:g.51040897A>G			48828189	NM_032802	B2RDS0|Q8TAW1|Q96SZ8	Silent	SNP	ENST00000261854.5	37	CCDS10138.1																																																																																				0.358	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	
AP4E1	23431	broad.mit.edu	37	15	51217364	51217364	+	Missense_Mutation	SNP	G	G	A	rs556357549		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51217364G>A	ENST00000261842.5	+	5	596	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E89K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	164					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.E164K(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTTCCCCTGCGAAATGATTCC	0.368																																					p.E164K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	15						.						123.0	109.0	114.0					15																	51217364		2196	4294	6490	49004656	SO:0001583	missense	23431	exon5			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.490G>A	15.37:g.51217364G>A	ENSP00000261842:p.Glu164Lys		49004656	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024927	0.93518	.	.	ENSG00000081014	ENST00000261842	T	0.16897	2.31	5.53	5.53	0.82687	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.052250	0.85682	D	0.000000	T	0.45597	0.1350	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.74023	0.593;0.982	T	0.44050	-0.9353	10	0.87932	D	0	-20.3531	18.4414	0.90667	0.0:0.0:1.0:0.0	.	164;164	B4DM48;Q9UPM8	.;AP4E1_HUMAN	K	164	ENSP00000261842:E164K	ENSP00000261842:E164K	E	+	1	0	AP4E1	49004656	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.444000	0.97578	2.597000	0.87782	0.460000	0.39030	GAA		0.368	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
AP4E1	23431	broad.mit.edu	37	15	51223004	51223004	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51223004G>T	ENST00000261842.5	+	7	811	c.705G>T	c.(703-705)gaG>gaT	p.E235D	AP4E1_ENST00000560508.1_Missense_Mutation_p.E160D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	235					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.E235D(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGATGTAGGAGAATTCATCTG	0.348																																					p.E235D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705T	15						.						82.0	85.0	84.0					15																	51223004		2196	4294	6490	49010296	SO:0001583	missense	23431	exon7			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.705G>T	15.37:g.51223004G>T	ENSP00000261842:p.Glu235Asp		49010296	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559131	0.27827	.	.	ENSG00000081014	ENST00000261842	T	0.25912	1.77	6.02	5.1	0.69264	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.161074	0.56097	D	0.000039	T	0.16128	0.0388	L	0.31294	0.92	0.53688	D	0.999979	B;B	0.18013	0.025;0.004	B;B	0.20184	0.028;0.014	T	0.12041	-1.0563	10	0.20519	T	0.43	-10.8666	5.7776	0.18287	0.1754:0.1617:0.6629:0.0	.	235;235	B4DM48;Q9UPM8	.;AP4E1_HUMAN	D	235	ENSP00000261842:E235D	ENSP00000261842:E235D	E	+	3	2	AP4E1	49010296	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	3.562000	0.53777	1.533000	0.49186	0.655000	0.94253	GAG		0.348	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
AP4E1	23431	broad.mit.edu	37	15	51289577	51289577	+	Nonsense_Mutation	SNP	G	G	T	rs556450190		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51289577G>T	ENST00000261842.5	+	18	2507	c.2401G>T	c.(2401-2403)Gaa>Taa	p.E801*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.E726*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	801					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.E801*(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAAAGTCAAAGAAGCTAAAAG	0.323																																					p.E801X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2401T	15						.						100.0	96.0	98.0					15																	51289577		2196	4294	6490	49076869	SO:0001587	stop_gained	23431	exon18			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2401G>T	15.37:g.51289577G>T	ENSP00000261842:p.Glu801*		49076869	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	35	5.493681	0.96339	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.19	4.27	0.50696	.	0.610687	0.17659	N	0.166417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-6.1057	10.7309	0.46096	0.1488:0.0:0.8512:0.0	.	.	.	.	X	801	.	ENSP00000261842:E801X	E	+	1	0	AP4E1	49076869	1.000000	0.71417	0.888000	0.34837	0.191000	0.23601	3.963000	0.56773	2.417000	0.82017	0.467000	0.42956	GAA		0.323	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
AP4E1	23431	broad.mit.edu	37	15	51289708	51289708	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51289708G>T	ENST00000261842.5	+	18	2638	c.2532G>T	c.(2530-2532)aaG>aaT	p.K844N	AP4E1_ENST00000560508.1_Missense_Mutation_p.K769N	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	844					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.K844N(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGGAATTAAAGAAATTTTCTC	0.353																																					p.K844N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2532T	15						.						122.0	120.0	121.0					15																	51289708		2196	4294	6490	49077000	SO:0001583	missense	23431	exon18			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2532G>T	15.37:g.51289708G>T	ENSP00000261842:p.Lys844Asn		49077000	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599473	0.03744	.	.	ENSG00000081014	ENST00000261842	T	0.18338	2.22	5.1	3.17	0.36434	.	1.211720	0.05759	N	0.604546	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.17369	T	0.5	0.3992	8.4729	0.32997	0.0747:0.0:0.6415:0.2838	.	844	Q9UPM8	AP4E1_HUMAN	N	844	ENSP00000261842:K844N	ENSP00000261842:K844N	K	+	3	2	AP4E1	49077000	0.879000	0.30193	0.568000	0.28447	0.105000	0.19272	0.318000	0.19504	0.489000	0.27749	0.467000	0.42956	AAG		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
TNFAIP8L3	388121	broad.mit.edu	37	15	51350201	51350201	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51350201G>T	ENST00000327536.5	-	3	855	c.756C>A	c.(754-756)gtC>gtA	p.V252V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	252								p.V252V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGTGGTTAAAGACGTGGTTGA	0.542																																					p.V252V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756A	15						.						78.0	67.0	71.0					15																	51350201		2196	4293	6489	49137493	SO:0001819	synonymous_variant	388121	exon3			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.756C>A	15.37:g.51350201G>T			49137493	NM_207381	Q6ZWD1	Silent	SNP	ENST00000327536.5	37	CCDS32241.1																																																																																				0.542	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381	
CYP19A1	1588	broad.mit.edu	37	15	51503240	51503240	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51503240T>C	ENST00000396402.1	-	10	1430	c.1277A>G	c.(1276-1278)tAc>tGc	p.Y426C	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.Y426C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.Y426C|CYP19A1_ENST00000559878.1_Missense_Mutation_p.Y426C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	426					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.Y426C(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TGGCTGAAAGTACCTATAAGG	0.448																																					p.Y426C	Melanoma(142;1016 1807 39614 48966 51721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1277G	15						.						71.0	60.0	63.0					15																	51503240		2196	4293	6489	49290532	SO:0001583	missense	1588	exon11			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1277A>G	15.37:g.51503240T>C	ENSP00000379683:p.Tyr426Cys		49290532	NM_031226	Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779028	0.70107	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.69926	-0.44;-0.44;-0.44	5.37	5.37	0.77165	.	0.109295	0.64402	D	0.000004	D	0.82403	0.5029	M	0.83312	2.635	0.58432	D	0.999999	D	0.76494	0.999	D	0.68353	0.957	D	0.85501	0.1191	10	0.87932	D	0	-15.5739	15.6507	0.77091	0.0:0.0:0.0:1.0	.	426	P11511	CP19A_HUMAN	C	426	ENSP00000379683:Y426C;ENSP00000260433:Y426C;ENSP00000379685:Y426C	ENSP00000260433:Y426C	Y	-	2	0	CYP19A1	49290532	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.548000	0.60718	2.163000	0.67991	0.482000	0.46254	TAC		0.448	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1		
DMXL2	23312	broad.mit.edu	37	15	51791231	51791231	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51791231C>T	ENST00000251076.5	-	18	4477	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1397Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1397						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R1397Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACTAATAGTTCGAGAGAGATG	0.413																																					p.R1397Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4190A	15						.						238.0	222.0	227.0					15																	51791231		2195	4293	6488	49578523	SO:0001583	missense	23312	exon18			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4190G>A	15.37:g.51791231C>T	ENSP00000251076:p.Arg1397Gln		49578523	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689686	0.88735	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.976;0.984	T	0.59984	-0.7351	10	0.49607	T	0.09	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	1397;1397	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	Q	1397	ENSP00000251076:R1397Q;ENSP00000441858:R1397Q	ENSP00000251076:R1397Q	R	-	2	0	DMXL2	49578523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.427000	0.80284	2.669000	0.90835	0.591000	0.81541	CGA		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51806663	51806663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51806663C>A	ENST00000251076.5	-	15	2907	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.E874*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.E874*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	874						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.E874*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAAAATATTTCTGTTTCCTTT	0.318																																					p.E874X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2620T	15						.						204.0	195.0	198.0					15																	51806663		2195	4292	6487	49593955	SO:0001587	stop_gained	23312	exon15			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2620G>T	15.37:g.51806663C>A	ENSP00000251076:p.Glu874*		49593955	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	40	8.035752	0.98621	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	4.97	4.97	0.65823	.	0.368200	0.32970	N	0.005427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	18.5956	0.91228	0.0:1.0:0.0:0.0	.	.	.	.	X	874	.	ENSP00000251076:E874X	E	-	1	0	DMXL2	49593955	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.980000	0.70516	2.472000	0.83506	0.591000	0.81541	GAA		0.318	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51828668	51828668	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51828668T>G	ENST00000251076.5	-	12	2296	c.2009A>C	c.(2008-2010)cAt>cCt	p.H670P	DMXL2_ENST00000449909.3_Missense_Mutation_p.H670P|DMXL2_ENST00000543779.2_Missense_Mutation_p.H670P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	670						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.H670P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGCATTATGATGAGAGGATGT	0.368																																					p.H670P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2009C	15						.						95.0	94.0	94.0					15																	51828668		2195	4293	6488	49615960	SO:0001583	missense	23312	exon12			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2009A>C	15.37:g.51828668T>G	ENSP00000251076:p.His670Pro		49615960	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438309	0.62955	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.11277	2.79;2.79;2.79	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	M	0.84433	2.695	0.38944	D	0.958201	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.994;0.994	T	0.47275	-0.9130	10	0.87932	D	0	.	15.14	0.72604	0.0:0.0:0.0:1.0	.	670;670;670	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	P	670	ENSP00000251076:H670P;ENSP00000441858:H670P;ENSP00000400855:H670P	ENSP00000251076:H670P	H	-	2	0	DMXL2	49615960	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.698000	0.84413	1.966000	0.57179	0.533000	0.62120	CAT		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
SCG3	29106	broad.mit.edu	37	15	51974734	51974734	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:51974734G>A	ENST00000220478.3	+	2	506	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SCG3_ENST00000542355.2_Intron	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	35					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.E35K(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ACATAATAGAGAATTAAGTGC	0.239																																					p.E35K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103A	15						.						42.0	48.0	46.0					15																	51974734		2190	4268	6458	49762026	SO:0001583	missense	29106	exon2			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.103G>A	15.37:g.51974734G>A	ENSP00000220478:p.Glu35Lys		49762026	NM_013243	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707155	0.89018	.	.	ENSG00000104112	ENST00000220478	T	0.26810	1.71	5.68	5.68	0.88126	.	0.164901	0.52532	D	0.000072	T	0.31765	0.0807	L	0.29908	0.895	0.80722	D	1	D	0.57571	0.98	P	0.52514	0.701	T	0.02444	-1.1158	10	0.72032	D	0.01	.	16.2945	0.82763	0.0:0.1411:0.8589:0.0	.	35	Q8WXD2	SCG3_HUMAN	K	35	ENSP00000220478:E35K	ENSP00000220478:E35K	E	+	1	0	SCG3	49762026	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.306000	0.51881	2.677000	0.91161	0.491000	0.48974	GAA		0.239	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243	
MAPK6	5597	broad.mit.edu	37	15	52356227	52356227	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52356227G>A	ENST00000261845.5	+	6	2003	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	399					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.R399Q(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTGATCCCCGAAAATATTTG	0.408																																					p.R399Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1196A	15						.						89.0	83.0	85.0					15																	52356227		2195	4293	6488	50143519	SO:0001583	missense	5597	exon6			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1196G>A	15.37:g.52356227G>A	ENSP00000261845:p.Arg399Gln		50143519	NM_002748	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276927	0.95459	.	.	ENSG00000069956	ENST00000261845	T	0.45668	0.89	5.26	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.59436	1.845	0.80722	D	1	B	0.24533	0.105	B	0.12156	0.007	T	0.43893	-0.9363	10	0.87932	D	0	-6.9633	14.2942	0.66300	0.0731:0.0:0.9269:0.0	.	399	Q16659	MK06_HUMAN	Q	399	ENSP00000261845:R399Q	ENSP00000261845:R399Q	R	+	2	0	MAPK6	50143519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.211000	0.95120	2.501000	0.84356	0.644000	0.83932	CGA		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748	
MYO5C	55930	broad.mit.edu	37	15	52531991	52531991	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52531991A>G	ENST00000261839.7	-	21	2803	c.2642T>C	c.(2641-2643)tTc>tCc	p.F881S	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	881	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F881S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATTAAGCACGAATCGTCGGAT	0.438																																					p.F881S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2642C	15						.						80.0	76.0	77.0					15																	52531991		1962	4157	6119	50319283	SO:0001583	missense	55930	exon21			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2642T>C	15.37:g.52531991A>G	ENSP00000261839:p.Phe881Ser		50319283	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.850672	0.51270	.	.	ENSG00000128833	ENST00000261839	T	0.70045	-0.45	5.43	5.43	0.79202	.	0.123891	0.56097	D	0.000031	T	0.44414	0.1292	N	0.05078	-0.115	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.40289	-0.9571	10	0.12430	T	0.62	.	15.1608	0.72782	1.0:0.0:0.0:0.0	.	881	Q9NQX4	MYO5C_HUMAN	S	881	ENSP00000261839:F881S	ENSP00000261839:F881S	F	-	2	0	MYO5C	50319283	1.000000	0.71417	0.813000	0.32504	0.992000	0.81027	8.962000	0.93254	2.058000	0.61347	0.528000	0.53228	TTC		0.438	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5C	55930	broad.mit.edu	37	15	52553238	52553238	+	Silent	SNP	G	G	A	rs199783351	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52553238G>A	ENST00000261839.7	-	10	1295	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	MYO5C_ENST00000443683.2_Silent_p.I321I|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	378	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I378I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGCTTGTGACGATTTTGCGAT	0.532																																					p.I378I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1134T	15						.						91.0	93.0	92.0					15																	52553238		2034	4194	6228	50340530	SO:0001819	synonymous_variant	55930	exon10			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1134C>T	15.37:g.52553238G>A			50340530	NM_018728	Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5C	55930	broad.mit.edu	37	15	52567856	52567856	+	Missense_Mutation	SNP	G	G	A	rs201485345		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52567856G>A	ENST00000261839.7	-	5	670	c.509C>T	c.(508-510)tCg>tTg	p.S170L	MYO5C_ENST00000443683.2_Missense_Mutation_p.S113L|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	170	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S170L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATAGCGAGCCGACACTGTCTT	0.473																																					p.S170L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	15						.	G	LEU/SER	0,4226		0,0,2113	127.0	129.0	128.0		509	5.3	1.0	15		128	2,8434		0,2,4216	yes	missense	MYO5C	NM_018728.3	145	0,2,6329	AA,AG,GG		0.0237,0.0,0.0158	probably-damaging	170/1743	52567856	2,12660	2113	4218	6331	50355148	SO:0001583	missense	55930	exon5			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.509C>T	15.37:g.52567856G>A	ENSP00000261839:p.Ser170Leu		50355148	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204513	0.95033	0.0	2.37E-4	ENSG00000128833	ENST00000261839;ENST00000443683;ENST00000541028	D;D	0.87887	-2.31;-2.31	5.32	5.32	0.75619	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	133;170	F5H231;Q9NQX4	.;MYO5C_HUMAN	L	170;113;133	ENSP00000261839:S170L;ENSP00000410582:S113L	ENSP00000261839:S170L	S	-	2	0	MYO5C	50355148	1.000000	0.71417	0.960000	0.40013	0.768000	0.43524	9.869000	0.99810	2.484000	0.83849	0.467000	0.42956	TCG		0.473	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5A	4644	broad.mit.edu	37	15	52662575	52662575	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52662575G>T	ENST00000399231.3	-	22	3100	c.2857C>A	c.(2857-2859)Ctg>Atg	p.L953M	MYO5A_ENST00000358212.6_Missense_Mutation_p.L953M|MYO5A_ENST00000553916.1_Missense_Mutation_p.L953M|MYO5A_ENST00000399233.2_Missense_Mutation_p.L953M|MYO5A_ENST00000356338.6_Missense_Mutation_p.L953M	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	953					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.L953M(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATTCCTTCCAGATTGGTTAGT	0.368																																					p.L953M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2857A	15						.						58.0	57.0	57.0					15																	52662575		1853	4077	5930	50449867	SO:0001583	missense	4644	exon22				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2857C>A	15.37:g.52662575G>T	ENSP00000382177:p.Leu953Met		50449867	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601490	0.46423	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.69	3.74	0.42951	.	0.000000	0.64402	D	0.000001	T	0.16685	0.0401	L	0.43152	1.355	0.53005	D	0.999966	B;P	0.34462	0.439;0.454	B;B	0.25614	0.062;0.047	T	0.05370	-1.0889	10	0.59425	D	0.04	.	11.9996	0.53222	0.1435:0.0:0.8565:0.0	.	953;953	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	M	953;487;953;953;953;583;953	ENSP00000382177:L953M;ENSP00000382179:L953M;ENSP00000348693:L953M;ENSP00000350945:L953M;ENSP00000451109:L953M	ENSP00000348693:L953M	L	-	1	2	MYO5A	50449867	0.977000	0.34250	0.997000	0.53966	0.973000	0.67179	1.696000	0.37773	1.340000	0.45581	0.655000	0.94253	CTG		0.368	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
FAM214A	56204	broad.mit.edu	37	15	52876985	52876985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52876985G>A	ENST00000261844.7	-	12	3186	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Nonsense_Mutation_p.R1019*|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1012								p.R1012*(1)									TCTGTGTGTCGGATGTTCTCT	0.343																																					p.R1012X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3034T	15						.						169.0	166.0	167.0					15																	52876985		1862	4101	5963	50664277	SO:0001587	stop_gained	56204	exon12			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3034C>T	15.37:g.52876985G>A	ENSP00000261844:p.Arg1012*		50664277	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Nonsense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215373	0.79352	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	.	.	.	5.3	5.3	0.74995	.	0.858652	0.10383	N	0.681335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3121	0.94192	0.0:0.0:1.0:0.0	.	.	.	.	X	1012;1012;1019	.	ENSP00000261844:R1012X	R	-	1	2	KIAA1370	50664277	0.998000	0.40836	0.938000	0.37757	0.977000	0.68977	2.771000	0.47670	2.636000	0.89361	0.467000	0.42956	CGA		0.343	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
FAM214A	56204	broad.mit.edu	37	15	52897412	52897412	+	Missense_Mutation	SNP	C	C	T	rs556851664		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52897412C>T	ENST00000261844.7	-	7	2530	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.R800Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	793								p.R793Q(1)									ATTATGTTTTCGCCACACATT	0.333													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15749	0.0		0.0	False		,,,				2504	0.0				p.R793Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2378A	15						.						157.0	157.0	157.0					15																	52897412		1839	4095	5934	50684704	SO:0001583	missense	56204	exon7			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2378G>A	15.37:g.52897412C>T	ENSP00000261844:p.Arg793Gln		50684704	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240354	0.22711	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.32753	1.44;1.44	5.06	-0.609	0.11608	.	0.342225	0.30752	N	0.008951	T	0.13372	0.0324	N	0.11427	0.14	0.29139	N	0.879132	B;B	0.17268	0.021;0.012	B;B	0.08055	0.003;0.001	T	0.23154	-1.0196	10	0.20046	T	0.44	.	10.2715	0.43485	0.0:0.4698:0.0:0.5302	.	800;793	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	793;793;792;800	ENSP00000261844:R793Q;ENSP00000443598:R800Q	ENSP00000261844:R793Q	R	-	2	0	KIAA1370	50684704	0.001000	0.12720	0.690000	0.30148	0.995000	0.86356	-0.898000	0.04105	-0.294000	0.08973	0.650000	0.86243	CGA		0.333	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
FAM214A	56204	broad.mit.edu	37	15	52902223	52902223	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:52902223T>G	ENST00000261844.7	-	6	1040	c.888A>C	c.(886-888)aaA>aaC	p.K296N	FAM214A_ENST00000546305.2_Missense_Mutation_p.K303N	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	296								p.K296N(1)									GTTTGATATTTTTGACAGCTG	0.418																																					p.K296N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A888C	15						.						88.0	72.0	77.0					15																	52902223		1862	4091	5953	50689515	SO:0001583	missense	56204	exon6			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.888A>C	15.37:g.52902223T>G	ENSP00000261844:p.Lys296Asn		50689515	NM_019600	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586120	0.28268	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.37411	1.2;1.2	5.19	2.89	0.33648	.	0.369554	0.34046	N	0.004319	T	0.38665	0.1049	L	0.60455	1.87	0.27422	N	0.954252	P;P	0.47545	0.897;0.835	P;B	0.49853	0.624;0.42	T	0.16748	-1.0392	10	0.21014	T	0.42	.	9.0295	0.36249	0.0:0.1493:0.0:0.8507	.	303;296	F5H8G0;Q32MH5	.;K1370_HUMAN	N	296;296;295;303	ENSP00000261844:K296N;ENSP00000443598:K303N	ENSP00000261844:K296N	K	-	3	2	KIAA1370	50689515	1.000000	0.71417	0.997000	0.53966	0.355000	0.29361	2.661000	0.46758	0.925000	0.37094	0.533000	0.62120	AAA		0.418	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
WDR72	256764	broad.mit.edu	37	15	53809937	53809937	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:53809937G>T	ENST00000396328.1	-	20	3507	c.3268C>A	c.(3268-3270)Cat>Aat	p.H1090N	WDR72_ENST00000557913.1_Missense_Mutation_p.H1087N|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000559418.1_Missense_Mutation_p.H1100N|WDR72_ENST00000360509.5_Missense_Mutation_p.H1090N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1090								p.H1090N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCCATGAATGATGCCTTGGC	0.413																																					p.H1090N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3268A	15						.						141.0	134.0	137.0					15																	53809937		2194	4293	6487	51597229	SO:0001583	missense	256764	exon20			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3268C>A	15.37:g.53809937G>T	ENSP00000379619:p.His1090Asn		51597229	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535336	0.45176	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.35789	1.29;1.29	5.85	5.85	0.93711	.	0.225469	0.31438	N	0.007657	T	0.26011	0.0634	N	0.22421	0.69	0.23464	N	0.997621	B	0.21071	0.051	B	0.14578	0.011	T	0.11108	-1.0601	10	0.31617	T	0.26	.	14.0439	0.64693	0.0:0.0:0.8493:0.1507	.	1090	Q3MJ13	WDR72_HUMAN	N	1090	ENSP00000379619:H1090N;ENSP00000353699:H1090N	ENSP00000353699:H1090N	H	-	1	0	WDR72	51597229	1.000000	0.71417	0.963000	0.40424	0.933000	0.57130	4.393000	0.59665	2.773000	0.95371	0.585000	0.79938	CAT		0.413	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53815457	53815457	+	Missense_Mutation	SNP	C	C	T	rs148695841	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:53815457C>T	ENST00000396328.1	-	19	3450	c.3211G>A	c.(3211-3213)Gac>Aac	p.D1071N	WDR72_ENST00000557913.1_Missense_Mutation_p.D1068N|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000559418.1_Missense_Mutation_p.D1081N|WDR72_ENST00000360509.5_Missense_Mutation_p.D1071N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1071								p.D1071N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCAGGCATGTCCTCCACGTCT	0.448																																					p.D1071N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3211A	15						.						193.0	185.0	188.0					15																	53815457		2194	4293	6487	51602749	SO:0001583	missense	256764	exon19			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3211G>A	15.37:g.53815457C>T	ENSP00000379619:p.Asp1071Asn		51602749	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269843	0.40095	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.50813	0.73;0.73	6.17	4.3	0.51218	.	0.097447	0.46442	D	0.000290	T	0.38957	0.1060	L	0.51422	1.61	0.30349	N	0.784954	B	0.18461	0.028	B	0.17433	0.018	T	0.33675	-0.9859	10	0.13108	T	0.6	.	11.8513	0.52413	0.0:0.8607:0.0:0.1393	.	1071	Q3MJ13	WDR72_HUMAN	N	1071	ENSP00000379619:D1071N;ENSP00000353699:D1071N	ENSP00000353699:D1071N	D	-	1	0	WDR72	51602749	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.204000	0.42761	1.625000	0.50366	0.655000	0.94253	GAC		0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53907722	53907722	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:53907722G>T	ENST00000396328.1	-	15	2920	c.2681C>A	c.(2680-2682)tCt>tAt	p.S894Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S891Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S904Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S894Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	894								p.S894Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCTCGCAAAGAATCACAATT	0.338																																					p.S894Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2681A	15						.						48.0	49.0	49.0					15																	53907722		2194	4293	6487	51695014	SO:0001583	missense	256764	exon15			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2681C>A	15.37:g.53907722G>T	ENSP00000379619:p.Ser894Tyr		51695014	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	6.922	0.539728	0.13250	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.36878	1.23;1.23	5.72	3.82	0.43975	.	0.665843	0.14679	N	0.304862	T	0.25827	0.0629	L	0.32530	0.975	0.09310	N	1	B	0.20550	0.046	B	0.21151	0.033	T	0.22800	-1.0206	10	0.59425	D	0.04	.	5.2007	0.15262	0.0757:0.2828:0.5104:0.1312	.	894	Q3MJ13	WDR72_HUMAN	Y	894	ENSP00000379619:S894Y;ENSP00000353699:S894Y	ENSP00000353699:S894Y	S	-	2	0	WDR72	51695014	0.002000	0.14202	0.929000	0.37066	0.474000	0.32979	1.126000	0.31344	0.747000	0.32809	-0.137000	0.14449	TCT		0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53957939	53957939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:53957939C>A	ENST00000396328.1	-	14	2031	c.1792G>T	c.(1792-1794)Gaa>Taa	p.E598*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.E595*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.E608*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.E598*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	598								p.E598*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CGTGCTCTTTCTCCTGTCTCA	0.373																																					p.E598X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1792T	15						.						116.0	104.0	108.0					15																	53957939		2194	4293	6487	51745231	SO:0001587	stop_gained	256764	exon14			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1792G>T	15.37:g.53957939C>A	ENSP00000379619:p.Glu598*		51745231	NM_182758	Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	39	7.397981	0.98258	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.57	4.65	0.58169	.	0.482624	0.22591	N	0.058097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.3893	0.60813	0.0:0.9243:0.0:0.0757	.	.	.	.	X	598	.	ENSP00000353699:E598X	E	-	1	0	WDR72	51745231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.791000	0.55469	1.348000	0.45733	0.563000	0.77884	GAA		0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53997398	53997398	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:53997398C>A	ENST00000396328.1	-	11	1374	c.1135G>T	c.(1135-1137)Gat>Tat	p.D379Y	WDR72_ENST00000557913.1_Missense_Mutation_p.D376Y|WDR72_ENST00000559418.1_Missense_Mutation_p.D389Y|WDR72_ENST00000360509.5_Missense_Mutation_p.D379Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	379								p.D379Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCAAAATTATCTTGAAGAGTC	0.343																																					p.D379Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135T	15						.						75.0	75.0	75.0					15																	53997398		2194	4293	6487	51784690	SO:0001583	missense	256764	exon11			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1135G>T	15.37:g.53997398C>A	ENSP00000379619:p.Asp379Tyr		51784690	NM_182758	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565029	0.65651	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.61392	0.11;0.11	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.063984	0.64402	D	0.000005	T	0.75583	0.3869	M	0.68317	2.08	0.43126	D	0.994852	D	0.89917	1.0	D	0.73380	0.98	T	0.77230	-0.2664	10	0.87932	D	0	.	18.9451	0.92620	0.0:1.0:0.0:0.0	.	379	Q3MJ13	WDR72_HUMAN	Y	379	ENSP00000379619:D379Y;ENSP00000353699:D379Y	ENSP00000353699:D379Y	D	-	1	0	WDR72	51784690	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.975000	0.56859	2.729000	0.93468	0.460000	0.39030	GAT		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
UNC13C	440279	broad.mit.edu	37	15	54306334	54306334	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:54306334G>T	ENST00000260323.11	+	1	1234	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y	UNC13C_ENST00000545554.1_Missense_Mutation_p.D412Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.D412Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	412					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.D412Y(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTAACTCATGACATCAGAGA	0.378																																					p.D412Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1234T	15						.						98.0	92.0	94.0					15																	54306334		1842	4090	5932	52093626	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1234G>T	15.37:g.54306334G>T	ENSP00000260323:p.Asp412Tyr		52093626	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562550	0.65538	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83250	-1.7;-1.7;-1.7	5.64	5.64	0.86602	.	.	.	.	.	D	0.85630	0.5741	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	D	0.87177	0.2225	9	0.87932	D	0	.	18.6946	0.91596	0.0:0.0:1.0:0.0	.	412	Q8NB66	UN13C_HUMAN	Y	412	ENSP00000260323:D412Y;ENSP00000438156:D412Y;ENSP00000442569:D412Y	ENSP00000260323:D412Y	D	+	1	0	UNC13C	52093626	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.392000	0.97252	2.665000	0.90641	0.655000	0.94253	GAC		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54307015	54307015	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:54307015G>A	ENST00000260323.11	+	1	1915	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D639N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D639N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	639					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.D639N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCATCTGGAGACCGGAGTCA	0.448																																					p.D639N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1915A	15						.						153.0	151.0	151.0					15																	54307015		2073	4211	6284	52094307	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1915G>A	15.37:g.54307015G>A	ENSP00000260323:p.Asp639Asn		52094307	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165868	0.57476	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85088	-1.94;-1.94;-1.94	5.16	4.24	0.50183	.	.	.	.	.	T	0.73830	0.3637	N	0.24115	0.695	0.37351	D	0.910817	P	0.43094	0.799	B	0.35039	0.194	T	0.79514	-0.1772	9	0.66056	D	0.02	.	12.6166	0.56580	0.0794:0.0:0.9206:0.0	.	639	Q8NB66	UN13C_HUMAN	N	639	ENSP00000260323:D639N;ENSP00000438156:D639N;ENSP00000442569:D639N	ENSP00000260323:D639N	D	+	1	0	UNC13C	52094307	1.000000	0.71417	0.156000	0.22583	0.859000	0.49053	7.448000	0.80631	1.396000	0.46663	0.650000	0.86243	GAC		0.448	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
PIGB	9488	broad.mit.edu	37	15	55647027	55647027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:55647027C>A	ENST00000164305.5	+	11	1660	c.1369C>A	c.(1369-1371)Ctc>Atc	p.L457I	DYX1C1-CCPG1_ENST00000565113.1_RNA|PIGB_ENST00000539642.1_Missense_Mutation_p.L262I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	457					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.L457I(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CATGAGATTTCTCCAGTGCCC	0.358																																					p.L457I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1369A	15						.						66.0	61.0	62.0					15																	55647027		1864	4103	5967	53434319	SO:0001583	missense	9488	exon11			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1369C>A	15.37:g.55647027C>A	ENSP00000164305:p.Leu457Ile		53434319	NM_004855	Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.086815	0.76642	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.75704	-0.63;-0.96	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	M	0.83852	2.665	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.84014	0.0350	10	0.25751	T	0.34	-20.5319	19.2028	0.93717	0.0:1.0:0.0:0.0	.	457	Q92521	PIGB_HUMAN	I	457;262	ENSP00000164305:L457I;ENSP00000438963:L262I	ENSP00000164305:L457I	L	+	1	0	PIGB	53434319	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.395000	0.79876	2.785000	0.95823	0.591000	0.81541	CTC		0.358	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	
PYGO1	26108	broad.mit.edu	37	15	55841114	55841114	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:55841114A>G	ENST00000302000.6	-	2	223	c.129T>C	c.(127-129)aaT>aaC	p.N43N	PYGO1_ENST00000563719.1_Silent_p.N43N	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	43					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N43N(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTACCTGTGTATTTGCCTTGC	0.368																																					p.N43N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T129C	15						.						152.0	147.0	148.0					15																	55841114		2193	4292	6485	53628406	SO:0001819	synonymous_variant	26108	exon2			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.129T>C	15.37:g.55841114A>G			53628406	NM_015617	A7Y2D6	Silent	SNP	ENST00000302000.6	37	CCDS10155.1																																																																																				0.368	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
NEDD4	4734	broad.mit.edu	37	15	56122106	56122106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56122106C>A	ENST00000508342.1	-	25	4248	c.3949G>T	c.(3949-3951)Gga>Tga	p.G1317*	NEDD4_ENST00000506154.1_Nonsense_Mutation_p.G1301*|NEDD4_ENST00000435532.3_Nonsense_Mutation_p.G898*|NEDD4_ENST00000338963.2_Nonsense_Mutation_p.G1245*	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1317	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.G1245*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCAACTCCATCAAAGCCC	0.338																																					p.G898X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2692T	15						.						87.0	80.0	83.0					15																	56122106		2193	4292	6485	53909398	SO:0001587	stop_gained	4734	exon29			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3949G>T	15.37:g.56122106C>A	ENSP00000424827:p.Gly1317*		53909398	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Nonsense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.324086|7.324086	0.98210|0.98210	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.104630|.	0.64402|.	D|.	0.000004|.	.|T	.|0.76593	.|0.4009	.|.	.|.	.|.	0.43471|0.43471	D|D	0.995688|0.995688	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73392	.|-0.3997	.|4	0.87932|.	D|.	0|.	.|.	19.6603|19.6603	0.95864|0.95864	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1317;898;1245;1301|907	.|.	ENSP00000345530:G1245X|.	G|M	-|-	1|3	0|0	NEDD4|NEDD4	53909398|53909398	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.774000|0.774000	0.43823|0.43823	7.625000|7.625000	0.83145|0.83145	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GGA|ATG		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56144725	56144725	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56144725G>T	ENST00000508342.1	-	9	2599	c.2300C>A	c.(2299-2301)tCt>tAt	p.S767Y	NEDD4_ENST00000506154.1_Missense_Mutation_p.S751Y|NEDD4_ENST00000435532.3_Missense_Mutation_p.S348Y|NEDD4_ENST00000338963.2_Missense_Mutation_p.S695Y	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	767	Mediates interaction with TNIK. {ECO:0000250}.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.S695Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGGTAATCCAGATGAAGTAGG	0.383																																					p.S348Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1043A	15						.						129.0	109.0	116.0					15																	56144725		2193	4292	6485	53932017	SO:0001583	missense	4734	exon13			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2300C>A	15.37:g.56144725G>T	ENSP00000424827:p.Ser767Tyr		53932017	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.379935|4.379935	0.82682|0.82682	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.21361	.|2.01;2.08;2.02;2.02	5.4|5.4	5.4|5.4	0.78164|0.78164	.|WW/Rsp5/WWP (3);	.|0.265686	.|0.44097	.|D	.|0.000490	T|T	0.48840|0.48840	0.1522|0.1522	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D;D	.|0.76494	.|0.999;0.98;0.994;0.997	.|D;P;P;P	.|0.67548	.|0.952;0.782;0.837;0.888	T|T	0.52177|0.52177	-0.8610|-0.8610	5|10	.|0.87932	.|D	.|0	.|.	18.1866|18.1866	0.89795|0.89795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|751;348;767;695	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	M|Y	358|767;348;695;751	.|ENSP00000424827:S767Y;ENSP00000410613:S348Y;ENSP00000345530:S695Y;ENSP00000422705:S751Y	.|ENSP00000345530:S695Y	L|S	-|-	1|2	2|0	NEDD4|NEDD4	53932017|53932017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.594000|7.594000	0.82698|0.82698	2.529000|2.529000	0.85273|0.85273	0.555000|0.555000	0.69702|0.69702	CTG|TCT		0.383	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56161868	56161868	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56161868C>A	ENST00000508342.1	-	4	1972	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	NEDD4_ENST00000506154.1_Missense_Mutation_p.R558I|NEDD4_ENST00000435532.3_Missense_Mutation_p.R139I|NEDD4_ENST00000338963.2_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	558					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.R139I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ACCTTTAACTCTTGATTTGTG	0.323																																					p.R139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416T	15						.						61.0	52.0	55.0					15																	56161868		1782	4054	5836	53949160	SO:0001583	missense	4734	exon8			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1673G>T	15.37:g.56161868C>A	ENSP00000424827:p.Arg558Ile		53949160	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.384564|4.384564	0.82792|0.82792	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000506154	.|D;D;T	.|0.89746	.|-2.56;-2.56;-0.57	5.68|5.68	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	.|D	.|0.93706	.|0.7989	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.67145	.|0.996;0.282;0.984	.|D;B;P	.|0.64410	.|0.925;0.083;0.707	.|D	.|0.94034	.|0.7303	.|9	.|0.87932	.|D	.|0	.|.	14.6731|14.6731	0.68958|0.68958	0.0:0.9265:0.0:0.0735|0.0:0.9265:0.0:0.0735	.|.	.|558;139;558	.|P46934-2;P46934-4;P46934	.|.;.;NEDD4_HUMAN	X|I	149|558;139;558	.|ENSP00000424827:R558I;ENSP00000410613:R139I;ENSP00000422705:R558I	.|ENSP00000410613:R139I	E|R	-|-	1|2	0|0	NEDD4|NEDD4	53949160|53949160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.346000|4.346000	0.59367|0.59367	2.843000|2.843000	0.97960|0.97960	0.585000|0.585000	0.79938|0.79938	GAG|AGA		0.323	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56207960	56207960	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56207960G>A	ENST00000508342.1	-	1	1369	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	NEDD4_ENST00000506154.1_Missense_Mutation_p.S357L|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S357L	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	357					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.S357L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGTATTATTCGAAAGAACAAT	0.418																																					p.S357L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1070T	15						.						50.0	51.0	50.0					15																	56207960		2191	4291	6482	53995252	SO:0001583	missense	4734	exon1			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1070C>T	15.37:g.56207960G>A	ENSP00000424827:p.Ser357Leu		53995252	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	G	6.599	0.478867	0.12581	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.39229	1.09;1.09;1.09	5.46	4.55	0.56014	.	11.057000	0.00424	N	0.000062	T	0.37156	0.0993	L	0.38175	1.15	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.04013	0.001;0.0;0.001	T	0.22208	-1.0223	10	0.22109	T	0.4	.	8.247	0.31695	0.1862:0.0:0.8138:0.0	.	357;357;357	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	L	357	ENSP00000424827:S357L;ENSP00000345530:S357L;ENSP00000422705:S357L	ENSP00000345530:S357L	S	-	2	0	NEDD4	53995252	0.007000	0.16637	0.007000	0.13788	0.038000	0.13279	1.406000	0.34646	1.331000	0.45412	-0.378000	0.06908	TCG		0.418	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
RFX7	64864	broad.mit.edu	37	15	56385786	56385786	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56385786G>T	ENST00000559447.2	-	9	4120	c.3849C>A	c.(3847-3849)ttC>ttA	p.F1283L	RFX7_ENST00000317318.6_Intron|RFX7_ENST00000423270.1_Missense_Mutation_p.F1380L|RFX7_ENST00000422057.1_Intron			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1283					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F1380L(1)|p.F1283L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TATCGCTAGAGAAATCAGATG	0.463																																					p.F1380L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4140A	15						.						76.0	71.0	72.0					15																	56385786		1944	4142	6086	54173078	SO:0001583	missense	64864	exon9					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3849C>A	15.37:g.56385786G>T	ENSP00000453281:p.Phe1283Leu		54173078	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	14.35	2.509853	0.44660	.	.	ENSG00000181827	ENST00000423270	T	0.61742	0.08	5.87	3.96	0.45880	.	0.000000	0.52532	U	0.000066	T	0.42988	0.1227	L	0.29908	0.895	0.58432	D	0.999995	B	0.10296	0.003	B	0.09377	0.004	T	0.35101	-0.9802	10	0.87932	D	0	-8.0012	7.9181	0.29829	0.1526:0.1347:0.7127:0.0	.	1283	Q2KHR2	RFX7_HUMAN	L	1380	ENSP00000397644:F1380L	ENSP00000397644:F1380L	F	-	3	2	RFX7	54173078	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	1.507000	0.35758	0.905000	0.36596	0.655000	0.94253	TTC		0.463	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
MNS1	55329	broad.mit.edu	37	15	56726546	56726546	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56726546A>C	ENST00000260453.3	-	8	1223	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'Flank|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	353	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.D353E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GTTCTTCAAAATCTTGCTTCA	0.348																																					p.D353E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1059G	15						.						179.0	163.0	168.0					15																	56726546		2192	4292	6484	54513838	SO:0001583	missense	55329	exon8			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.1059T>G	15.37:g.56726546A>C	ENSP00000260453:p.Asp353Glu		54513838	NM_018365	Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031689	0.35797	.	.	ENSG00000138587	ENST00000260453	T	0.09445	2.98	5.41	1.73	0.24493	.	0.677347	0.14269	N	0.330274	T	0.07683	0.0193	L	0.56769	1.78	0.22787	N	0.998734	B	0.23185	0.081	B	0.25506	0.061	T	0.44620	-0.9316	10	0.02654	T	1	-4.8245	0.5302	0.00627	0.3436:0.1278:0.1637:0.3649	.	353	Q8NEH6	MNS1_HUMAN	E	353	ENSP00000260453:D353E	ENSP00000260453:D353E	D	-	3	2	MNS1	54513838	0.739000	0.28196	0.981000	0.43875	0.970000	0.65996	-0.086000	0.11233	0.099000	0.17552	0.460000	0.39030	GAT		0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
ZNF280D	54816	broad.mit.edu	37	15	56968943	56968943	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:56968943C>A	ENST00000267807.7	-	13	1551	c.1335G>T	c.(1333-1335)aaG>aaT	p.K445N	ZNF280D_ENST00000559000.1_Missense_Mutation_p.K432N|ZNF280D_ENST00000396245.1_Missense_Mutation_p.K149N|ZNF280D_ENST00000559237.1_Missense_Mutation_p.K432N	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	445					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.K445N(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATAGCAAGTTCTTAGTGTTTT	0.313																																					p.K445N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1335T	15						.						137.0	137.0	137.0					15																	56968943		2192	4292	6484	54756235	SO:0001583	missense	54816	exon13			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1335G>T	15.37:g.56968943C>A	ENSP00000267807:p.Lys445Asn		54756235	NM_017661	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.101991|3.101991	0.56183|0.56183	.|.	.|.	ENSG00000137871|ENSG00000137871	ENST00000260435|ENST00000267807;ENST00000455329;ENST00000260435;ENST00000396245	.|T;T	.|0.05996	.|3.36;3.9	5.73|5.73	4.79|4.79	0.61399|0.61399	.|Zinc finger, C2H2 (1);	.|10.453700	.|0.00166	.|N	.|0.000002	.|T	.|0.21718	.|0.0523	L|L	0.51422|0.51422	1.61|1.61	0.37976|0.37976	D|D	0.933435|0.933435	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|T	.|0.01162	.|-1.1432	.|10	.|0.40728	.|T	.|0.16	.|-14.2268	7.0676|7.0676	0.25161|0.25161	0.0:0.723:0.0:0.277|0.0:0.723:0.0:0.277	.|.	.|508;445	.|B4DHL1;Q6N043	.|.;Z280D_HUMAN	.|N	-1|445;432;281;149	.|ENSP00000267807:K445N;ENSP00000379545:K149N	.|ENSP00000260435:K281N	.|K	-|-	.|3	.|2	ZNF280D|ZNF280D	54756235|54756235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.794000|0.794000	0.44872|0.44872	1.346000|1.346000	0.33964|0.33964	1.374000|1.374000	0.46228|0.46228	0.650000|0.650000	0.86243|0.86243	.|AAG		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867	
TCF12	6938	broad.mit.edu	37	15	57524979	57524979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:57524979C>T	ENST00000267811.5	+	11	1199	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	TCF12_ENST00000557843.1_Missense_Mutation_p.R299C|TCF12_ENST00000537840.1_Missense_Mutation_p.R63C|TCF12_ENST00000333725.5_Missense_Mutation_p.R299C|TCF12_ENST00000438423.2_Missense_Mutation_p.R299C|TCF12_ENST00000343827.3_Missense_Mutation_p.R129C|TCF12_ENST00000543579.1_Missense_Mutation_p.R129C|TCF12_ENST00000452095.2_Missense_Mutation_p.R295C|TCF12_ENST00000560764.1_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	299					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R295C(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGCTTTCATCGCGGCAGTAC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																p.R299C			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C895T	15						.						162.0	121.0	135.0					15																	57524979		2192	4292	6484	55312271	SO:0001583	missense	6938	exon11			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.895C>T	15.37:g.57524979C>T	ENSP00000267811:p.Arg299Cys		55312271	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789072	0.90367	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.972;0.991;0.99;0.999;0.994;0.928;0.994	D	0.87366	0.2347	10	0.54805	T	0.06	-13.1826	19.6555	0.95837	0.0:1.0:0.0:0.0	.	63;295;351;129;129;299;299	B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;HTF4_HUMAN;.	C	351;299;299;295;299;129;63;129	ENSP00000267811:R299C;ENSP00000388940:R299C;ENSP00000396881:R295C;ENSP00000331057:R299C;ENSP00000440017:R129C;ENSP00000444696:R63C;ENSP00000342459:R129C	ENSP00000267811:R299C	R	+	1	0	TCF12	55312271	1.000000	0.71417	0.507000	0.27676	0.825000	0.46686	4.776000	0.62354	2.653000	0.90120	0.557000	0.71058	CGC		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
TCF12	6938	broad.mit.edu	37	15	57565325	57565325	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:57565325C>T	ENST00000267811.5	+	18	2075	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TCF12_ENST00000559710.1_Missense_Mutation_p.R225W|TCF12_ENST00000557843.1_Missense_Mutation_p.R591W|TCF12_ENST00000537840.1_Missense_Mutation_p.R355W|TCF12_ENST00000559703.1_Missense_Mutation_p.R248W|TCF12_ENST00000333725.5_Missense_Mutation_p.R615W|TCF12_ENST00000438423.2_Missense_Mutation_p.R615W|TCF12_ENST00000343827.3_Missense_Mutation_p.R421W|TCF12_ENST00000543579.1_Missense_Mutation_p.R445W|TCF12_ENST00000452095.2_Missense_Mutation_p.R611W	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	591	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R611W(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTTACGCGTGCGGGATATTAA	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																p.R615W			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1843T	15						.						97.0	103.0	101.0					15																	57565325		2192	4292	6484	55352617	SO:0001583	missense	6938	exon19			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1771C>T	15.37:g.57565325C>T	ENSP00000267811:p.Arg591Trp		55352617	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190964	0.78789	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7;-4.7;-4.7;-4.7	4.72	2.73	0.32206	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.87097	2.86	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;0.999;0.992;0.999;0.998;0.996;0.996;0.994	D	0.98888	1.0772	10	0.87932	D	0	-5.321	12.4683	0.55773	0.4397:0.5603:0.0:0.0	.	611;225;445;355;611;643;445;421;591;615	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	W	643;591;615;611;615;445;355;421;203	ENSP00000267811:R591W;ENSP00000388940:R615W;ENSP00000396881:R611W;ENSP00000331057:R615W;ENSP00000440017:R445W;ENSP00000444696:R355W;ENSP00000342459:R421W	ENSP00000267811:R591W	R	+	1	2	TCF12	55352617	0.998000	0.40836	0.912000	0.35992	0.948000	0.59901	2.397000	0.44477	0.464000	0.27142	0.655000	0.94253	CGG		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
TCF12	6938	broad.mit.edu	37	15	57574699	57574699	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:57574699T>C	ENST00000267811.5	+	19	2267	c.1963T>C	c.(1963-1965)Tct>Cct	p.S655P	TCF12_ENST00000559710.1_Missense_Mutation_p.S289P|TCF12_ENST00000557843.1_Missense_Mutation_p.S655P|TCF12_ENST00000537840.1_Missense_Mutation_p.S419P|TCF12_ENST00000559703.1_Missense_Mutation_p.S312P|TCF12_ENST00000333725.5_Missense_Mutation_p.S679P|TCF12_ENST00000438423.2_Missense_Mutation_p.S679P|TCF12_ENST00000343827.3_Missense_Mutation_p.S485P|TCF12_ENST00000543579.1_Missense_Mutation_p.S509P|TCF12_ENST00000452095.2_Missense_Mutation_p.S675P	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	655	Class A specific domain.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.S675P(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGAAAAAGTTTCTGCCGTATC	0.458			T	TEC	extraskeletal myxoid chondrosarcoma																																p.S679P			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2035C	15						.						118.0	115.0	116.0					15																	57574699		2192	4292	6484	55361991	SO:0001583	missense	6938	exon20			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1963T>C	15.37:g.57574699T>C	ENSP00000267811:p.Ser655Pro		55361991	NM_207037	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105200	0.77096	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.27890	2.24;2.22;2.22;2.22;1.97;1.64;2.01	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.998;0.996;0.987;0.999;0.997;0.995;0.997	D;D;D;D;D;D;D;D	0.83275	0.979;0.99;0.933;0.958;0.996;0.991;0.979;0.991	T	0.57894	-0.7732	10	0.72032	D	0.01	-30.1344	16.1966	0.82029	0.0:0.0:0.0:1.0	.	289;509;419;675;509;485;655;679	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	P	655;679;675;679;509;419;485;267	ENSP00000267811:S655P;ENSP00000388940:S679P;ENSP00000396881:S675P;ENSP00000331057:S679P;ENSP00000440017:S509P;ENSP00000444696:S419P;ENSP00000342459:S485P	ENSP00000267811:S655P	S	+	1	0	TCF12	55361991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.768000	0.85345	2.232000	0.73038	0.528000	0.53228	TCT		0.458	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
CGNL1	84952	broad.mit.edu	37	15	57730585	57730585	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:57730585C>A	ENST00000281282.5	+	2	466	c.388C>A	c.(388-390)Cta>Ata	p.L130I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	130	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.L130I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAATGGAGTTCTAGATCGCAA	0.488																																					p.L130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388A	15						.						51.0	51.0	51.0					15																	57730585		2192	4292	6484	55517877	SO:0001583	missense	84952	exon2			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.388C>A	15.37:g.57730585C>A	ENSP00000281282:p.Leu130Ile		55517877	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928523	0.18131	.	.	ENSG00000128849	ENST00000281282	T	0.06933	3.24	4.87	3.93	0.45458	.	0.213470	0.23629	N	0.046141	T	0.09512	0.0234	L	0.60455	1.87	0.09310	N	1	B	0.20052	0.041	B	0.14023	0.01	T	0.17167	-1.0378	10	0.40728	T	0.16	-3.7354	8.6737	0.34165	0.0:0.7255:0.1518:0.1227	.	130	Q0VF96	CGNL1_HUMAN	I	130	ENSP00000281282:L130I	ENSP00000281282:L130I	L	+	1	2	CGNL1	55517877	0.000000	0.05858	0.062000	0.19696	0.865000	0.49528	-0.082000	0.11304	1.215000	0.43411	0.650000	0.86243	CTA		0.488	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
CGNL1	84952	broad.mit.edu	37	15	57730905	57730905	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:57730905C>A	ENST00000281282.5	+	2	786	c.708C>A	c.(706-708)aaC>aaA	p.N236K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	236	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.N236K(1)|p.N236N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGTGTGTAAACGTTCAGAGCT	0.567																																					p.N236K												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.C708A	15						.						90.0	94.0	93.0					15																	57730905		2192	4292	6484	55518197	SO:0001583	missense	84952	exon2			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.708C>A	15.37:g.57730905C>A	ENSP00000281282:p.Asn236Lys		55518197	NM_032866	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	9.468	1.094909	0.20471	.	.	ENSG00000128849	ENST00000281282	T	0.76578	-1.03	5.26	-1.09	0.09904	.	0.119070	0.38058	N	0.001835	T	0.67202	0.2868	L	0.51422	1.61	0.09310	N	1	B	0.31026	0.304	B	0.26416	0.069	T	0.59118	-0.7514	10	0.66056	D	0.02	-31.1636	10.6292	0.45525	0.0:0.3994:0.0:0.6006	.	236	Q0VF96	CGNL1_HUMAN	K	236	ENSP00000281282:N236K	ENSP00000281282:N236K	N	+	3	2	CGNL1	55518197	0.580000	0.26733	0.030000	0.17652	0.608000	0.37181	-0.233000	0.09041	-0.394000	0.07727	-0.143000	0.13931	AAC		0.567	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866	
LIPC	3990	broad.mit.edu	37	15	58838003	58838003	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:58838003G>T	ENST00000356113.6	+	7	1252	c.637G>T	c.(637-639)Gat>Tat	p.D213Y	LIPC_ENST00000414170.3_Missense_Mutation_p.D213Y|LIPC_ENST00000299022.5_Missense_Mutation_p.D213Y|LIPC_ENST00000433326.2_Missense_Mutation_p.D152Y			P11150	LIPC_HUMAN	lipase, hepatic	213					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.D213Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTCTCCAGATGATGCCAATTT	0.532																																					p.D213Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G637T	15						.						102.0	96.0	98.0					15																	58838003		2192	4292	6484	56625295	SO:0001583	missense	3990	exon5				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.637G>T	15.37:g.58838003G>T	ENSP00000348425:p.Asp213Tyr		56625295	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126425	0.77549	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.44	5.44	0.79542	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98698	0.9563	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99577	1.0972	10	0.87932	D	0	.	19.2665	0.93988	0.0:0.0:1.0:0.0	.	152;213	E7EUK6;P11150	.;LIPC_HUMAN	Y	213;213;213;152	ENSP00000348425:D213Y;ENSP00000395569:D213Y;ENSP00000299022:D213Y;ENSP00000395002:D152Y	ENSP00000299022:D213Y	D	+	1	0	LIPC	56625295	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.843000	0.99491	2.548000	0.85928	0.563000	0.77884	GAT		0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
LIPC	3990	broad.mit.edu	37	15	58855764	58855764	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:58855764C>T	ENST00000356113.6	+	10	1845	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	LIPC_ENST00000414170.3_Silent_p.I410I|LIPC_ENST00000433326.2_Silent_p.I349I|LIPC_ENST00000299022.5_Silent_p.I410I			P11150	LIPC_HUMAN	lipase, hepatic	410	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.I410I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		ATGTGGATATCGGCGAGCTGA	0.468																																					p.I410I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230T	15						.						135.0	111.0	119.0					15																	58855764		2192	4292	6484	56643056	SO:0001819	synonymous_variant	3990	exon8				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1230C>T	15.37:g.58855764C>T			56643056	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.468	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
ADAM10	102	broad.mit.edu	37	15	58925524	58925524	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:58925524G>T	ENST00000260408.3	-	9	1490	c.1047C>A	c.(1045-1047)ctC>ctA	p.L349L	ADAM10_ENST00000396140.2_Silent_p.L48L|ADAM10_ENST00000402627.1_Silent_p.L48L|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.L349L(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CATCTGAATAGAGTTTACTTT	0.368																																					p.L349L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047A	15						.						102.0	101.0	101.0					15																	58925524		2192	4292	6484	56712816	SO:0001819	synonymous_variant	102	exon9			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1047C>A	15.37:g.58925524G>T			56712816	NM_001110	B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	CCDS10167.1																																																																																				0.368	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110	
FAM63B	54629	broad.mit.edu	37	15	59064158	59064158	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59064158C>A	ENST00000559228.1	+	1	646	c.564C>A	c.(562-564)agC>agA	p.S188R	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Missense_Mutation_p.S188R			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	188								p.S188R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTCCCAGTAGCTGCGAGTTCA	0.627																																					p.S188R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C564A	15						.						30.0	32.0	31.0					15																	59064158		1902	4120	6022	56851450	SO:0001583	missense	54629	exon1			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.564C>A	15.37:g.59064158C>A	ENSP00000452885:p.Ser188Arg		56851450	NM_001040453	B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061564	0.76187	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.60797	0.16	3.89	3.89	0.44902	.	0.195941	0.36555	N	0.002538	T	0.59676	0.2211	N	0.24115	0.695	0.43467	D	0.995677	D;D	0.63880	0.988;0.993	P;P	0.59424	0.723;0.857	T	0.64647	-0.6358	10	0.51188	T	0.08	-23.1997	16.0667	0.80887	0.0:1.0:0.0:0.0	.	188;188	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	R	188	ENSP00000393231:S188R	ENSP00000326194:S188R	S	+	3	2	FAM63B	56851450	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.526000	0.67116	1.998000	0.58463	0.543000	0.68304	AGC		0.627	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092	
SLTM	79811	broad.mit.edu	37	15	59182619	59182619	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59182619C>T	ENST00000380516.2	-	15	2027	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H	SLTM_ENST00000536328.1_Missense_Mutation_p.R216H|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	647	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R647H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATTCTAATGCGTTCTCGCTC	0.413																																					p.R647H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1940A	15						.						104.0	101.0	102.0					15																	59182619		2192	4292	6484	56969911	SO:0001583	missense	79811	exon15			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1940G>A	15.37:g.59182619C>T	ENSP00000369887:p.Arg647His		56969911	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731832	0.69189	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.16743	2.32	5.86	4.94	0.65067	.	0.000000	0.56097	D	0.000021	T	0.20495	0.0493	L	0.57536	1.79	0.51767	D	0.999939	B;B	0.19817	0.039;0.027	B;B	0.14578	0.007;0.011	T	0.01795	-1.1272	10	0.51188	T	0.08	.	14.8308	0.70146	0.0:0.9312:0.0:0.0688	.	647;216	Q9NWH9;A8K5V8	SLTM_HUMAN;.	H	647;213;216	ENSP00000369887:R647H	ENSP00000369887:R647H	R	-	2	0	SLTM	56969911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.083000	0.76859	1.486000	0.48398	0.655000	0.94253	CGC		0.413	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
SLTM	79811	broad.mit.edu	37	15	59191829	59191829	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59191829C>A	ENST00000380516.2	-	7	984	c.897G>T	c.(895-897)atG>atT	p.M299I	SLTM_ENST00000557950.1_5'Flank|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	299					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M299I(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTTCGCATTCATCTCATAAT	0.448																																					p.M299I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G897T	15						.						157.0	150.0	153.0					15																	59191829		2192	4292	6484	56979121	SO:0001583	missense	79811	exon7			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.897G>T	15.37:g.59191829C>A	ENSP00000369887:p.Met299Ile		56979121	NM_024755	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	9.700	1.154151	0.21371	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88741	-2.42;-2.42	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);	0.080592	0.52532	D	0.000063	D	0.87509	0.6195	L	0.50333	1.59	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.14023	0.01;0.003	T	0.81961	-0.0693	10	0.42905	T	0.14	.	20.0114	0.97452	0.0:1.0:0.0:0.0	.	281;299	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	I	299;281	ENSP00000369887:M299I;ENSP00000249736:M281I	ENSP00000249736:M281I	M	-	3	0	SLTM	56979121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.851000	0.48302	2.732000	0.93576	0.591000	0.81541	ATG		0.448	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
RNF111	54778	broad.mit.edu	37	15	59344611	59344611	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59344611A>C	ENST00000557998.1	+	3	1275	c.988A>C	c.(988-990)Aca>Cca	p.T330P	RNF111_ENST00000434298.1_Missense_Mutation_p.T330P|RNF111_ENST00000348370.4_Missense_Mutation_p.T330P|RNF111_ENST00000561186.1_Missense_Mutation_p.T330P|RNF111_ENST00000559209.1_Missense_Mutation_p.T330P	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	330	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T330P(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GGAGATTGTAACAGTTGGAGA	0.338																																					p.T330P	NSCLC(72;983 1365 10746 34387 47081)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A988C	15						.						116.0	104.0	108.0					15																	59344611		2192	4291	6483	57131903	SO:0001583	missense	54778	exon3			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.988A>C	15.37:g.59344611A>C	ENSP00000452732:p.Thr330Pro		57131903	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127968	0.77549	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.20200	2.09;2.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.16897	-1.0387	10	0.62326	D	0.03	-8.8528	15.5466	0.76108	1.0:0.0:0.0:0.0	.	330;330;330	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	P	330	ENSP00000288199:T330P;ENSP00000393641:T330P	ENSP00000288199:T330P	T	+	1	0	RNF111	57131903	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.117000	0.89575	2.065000	0.61736	0.421000	0.28195	ACA		0.338	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
MYO1E	4643	broad.mit.edu	37	15	59480399	59480399	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59480399C>T	ENST00000288235.4	-	18	2221	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	608	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E608K(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCCAAATATTCGACTTGATGC	0.473																																					p.E608K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1822A	15						.						141.0	134.0	136.0					15																	59480399		2191	4291	6482	57267691	SO:0001583	missense	4643	exon18			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1822G>A	15.37:g.59480399C>T	ENSP00000288235:p.Glu608Lys		57267691	NM_004998	Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202630	0.79127	.	.	ENSG00000157483	ENST00000288235	D	0.86164	-2.08	4.82	4.82	0.62117	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	N	0.13272	0.32	0.80722	D	1	D	0.61697	0.99	P	0.54174	0.744	T	0.78219	-0.2289	10	0.02654	T	1	.	17.7194	0.88347	0.0:1.0:0.0:0.0	.	608	Q12965	MYO1E_HUMAN	K	608	ENSP00000288235:E608K	ENSP00000288235:E608K	E	-	1	0	MYO1E	57267691	1.000000	0.71417	0.775000	0.31657	0.936000	0.57629	7.556000	0.82233	2.503000	0.84419	0.655000	0.94253	GAA		0.473	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
MYO1E	4643	broad.mit.edu	37	15	59487694	59487694	+	Missense_Mutation	SNP	C	C	T	rs11539755		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59487694C>T	ENST00000288235.4	-	17	2170	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	591	Actin-binding. {ECO:0000255}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E591K(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TTCTTGGTTTCGTTTGGCTTG	0.517																																					p.E591K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1771A	15						.						197.0	185.0	189.0					15																	59487694		2191	4291	6482	57274986	SO:0001583	missense	4643	exon17			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1771G>A	15.37:g.59487694C>T	ENSP00000288235:p.Glu591Lys		57274986	NM_004998	Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818314	0.96982	.	.	ENSG00000157483	ENST00000288235	D	0.88354	-2.37	5.46	5.46	0.80206	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96265	0.9194	10	0.72032	D	0.01	.	18.2528	0.90009	0.0:1.0:0.0:0.0	rs11539755	591	Q12965	MYO1E_HUMAN	K	591	ENSP00000288235:E591K	ENSP00000288235:E591K	E	-	1	0	MYO1E	57274986	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.301000	0.78850	2.840000	0.97914	0.655000	0.94253	GAA		0.517	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
LDHAL6B	92483	broad.mit.edu	37	15	59500085	59500085	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59500085C>A	ENST00000307144.4	+	1	1044	c.946C>A	c.(946-948)Ctt>Att	p.L316I	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	316					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.L316I(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						TTTGAAGAATCTTAGGAGAAT	0.388																																					p.L316I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C946A	15						.						76.0	81.0	79.0					15																	59500085		2191	4289	6480	57287377	SO:0001583	missense	92483	exon1			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.946C>A	15.37:g.59500085C>A	ENSP00000302393:p.Leu316Ile		57287377	NM_033195	Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908509	0.52333	.	.	ENSG00000171989	ENST00000307144	T	0.63580	-0.05	1.47	1.47	0.22746	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.254509	0.24640	U	0.036802	T	0.70815	0.3267	M	0.93375	3.41	0.28751	N	0.90142	B	0.22346	0.068	B	0.38225	0.268	T	0.67345	-0.5694	10	0.46703	T	0.11	.	4.9066	0.13802	0.3566:0.6434:0.0:0.0	.	316	Q9BYZ2	LDH6B_HUMAN	I	316	ENSP00000302393:L316I	ENSP00000302393:L316I	L	+	1	0	LDHAL6B	57287377	0.906000	0.30813	0.111000	0.21465	0.739000	0.42172	-0.051000	0.11885	0.784000	0.33661	0.305000	0.20034	CTT		0.388	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195	
GCNT3	9245	broad.mit.edu	37	15	59911370	59911370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:59911370G>T	ENST00000396065.1	+	3	1381	c.933G>T	c.(931-933)aaG>aaT	p.K311N	GCNT3_ENST00000560585.1_Missense_Mutation_p.K311N	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	311					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K311N(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTTTTGAAGAACCCTAAAT	0.458																																					p.K311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G933T	15						.						153.0	154.0	153.0					15																	59911370		2190	4290	6480	57698662	SO:0001583	missense	9245	exon3			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.933G>T	15.37:g.59911370G>T	ENSP00000379377:p.Lys311Asn		57698662	NM_004751		Missense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329369	0.05314	.	.	ENSG00000140297	ENST00000396065	T	0.11712	2.75	5.41	4.44	0.53790	.	0.728089	0.13642	N	0.372915	T	0.03136	0.0092	N	0.01789	-0.72	0.20764	N	0.99986	B	0.02656	0.0	B	0.04013	0.001	T	0.43766	-0.9371	10	0.06365	T	0.9	-7.0432	4.6986	0.12816	0.0791:0.1271:0.6007:0.1932	.	311	O95395	GCNT3_HUMAN	N	311	ENSP00000379377:K311N	ENSP00000379377:K311N	K	+	3	2	GCNT3	57698662	0.076000	0.21285	0.959000	0.39883	0.860000	0.49131	0.068000	0.14531	1.114000	0.41781	0.655000	0.94253	AAG		0.458	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
VPS13C	54832	broad.mit.edu	37	15	62169234	62169234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62169234G>A	ENST00000261517.5	-	75	10235	c.10162C>T	c.(10162-10164)Cga>Tga	p.R3388*	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.R3388*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.R3345*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.R3345*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R3388*(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTGATATCGAATTTCATAA	0.299																																					p.R3345X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C10033T	15						.						91.0	99.0	96.0					15																	62169234		2203	4295	6498	59956526	SO:0001587	stop_gained	54832	exon73			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10162C>T	15.37:g.62169234G>A	ENSP00000261517:p.Arg3388*		59956526	NM_017684		Nonsense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	50	17.180658	0.99881	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.06	4.14	0.48551	.	0.247444	0.38272	N	0.001742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6843	0.51476	0.0:0.0:0.6055:0.3945	.	.	.	.	X	3345;3388;3388;3388	.	ENSP00000249837:R3345X	R	-	1	2	VPS13C	59956526	0.874000	0.30092	0.553000	0.28255	0.499000	0.33736	4.013000	0.57138	1.247000	0.43917	0.585000	0.79938	CGA		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62214690	62214690	+	Missense_Mutation	SNP	C	C	T	rs560778934		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62214690C>T	ENST00000261517.5	-	54	6954	c.6881G>A	c.(6880-6882)cGa>cAa	p.R2294Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R2294Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R2251Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2251Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R2294Q(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGTACAGTTCGATGTCCAAG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.0				p.R2251Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6752A	15						.						154.0	149.0	151.0					15																	62214690		2203	4300	6503	60001982	SO:0001583	missense	54832	exon52			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6881G>A	15.37:g.62214690C>T	ENSP00000261517:p.Arg2294Gln		60001982	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121726	0.77436	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	.	0.062798	0.64402	D	0.000005	T	0.54062	0.1835	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.27416	0.024;0.178;0.054;0.052	B;B;B;B	0.34242	0.049;0.178;0.077;0.055	T	0.57522	-0.7797	10	0.59425	D	0.04	.	19.3523	0.94393	0.0:1.0:0.0:0.0	.	2251;2294;2251;2294	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	2251;2294;2294;2294	ENSP00000249837:R2251Q;ENSP00000261517:R2294Q;ENSP00000379233:R2294Q	ENSP00000249837:R2251Q	R	-	2	0	VPS13C	60001982	0.996000	0.38824	0.998000	0.56505	0.928000	0.56348	3.409000	0.52657	2.635000	0.89317	0.650000	0.86243	CGA		0.393	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62219469	62219469	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62219469C>A	ENST00000261517.5	-	52	6410	c.6337G>T	c.(6337-6339)Gaa>Taa	p.E2113*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E2113*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E2070*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E2070*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E2113*(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATACCACTTCTGGATCTGTG	0.428																																					p.E2070X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6208T	15						.						155.0	155.0	155.0					15																	62219469		2203	4300	6503	60006761	SO:0001587	stop_gained	54832	exon50			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6337G>T	15.37:g.62219469C>A	ENSP00000261517:p.Glu2113*		60006761	NM_017684		Nonsense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	47	13.479736	0.99744	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1595	0.93525	0.0:1.0:0.0:0.0	.	.	.	.	X	2070;2113;2113;2113	.	ENSP00000249837:E2070X	E	-	1	0	VPS13C	60006761	1.000000	0.71417	0.983000	0.44433	0.776000	0.43924	7.238000	0.78173	2.585000	0.87301	0.655000	0.94253	GAA		0.428	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62223291	62223291	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62223291C>T	ENST00000261517.5	-	50	6109	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	VPS13C_ENST00000395896.4_Silent_p.S2012S|VPS13C_ENST00000249837.3_Silent_p.S1969S|VPS13C_ENST00000395898.3_Silent_p.S1969S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S2012S(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGACAAACCTCGATGTTGCTC	0.438																																					p.S1969S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5907A	15						.						125.0	107.0	113.0					15																	62223291		2203	4300	6503	60010583	SO:0001819	synonymous_variant	54832	exon48			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6036G>A	15.37:g.62223291C>T			60010583	NM_017684		Silent	SNP	ENST00000261517.5	37	CCDS32257.1																																																																																				0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62256049	62256049	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62256049C>T	ENST00000261517.5	-	32	3389	c.3316G>A	c.(3316-3318)Gaa>Aaa	p.E1106K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E1106K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E1063K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1063K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E1106K(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCTTGATTTCGGCGATATTG	0.353																																					p.E1063K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3187A	15						.						117.0	106.0	110.0					15																	62256049		2202	4300	6502	60043341	SO:0001583	missense	54832	exon30			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3316G>A	15.37:g.62256049C>T	ENSP00000261517:p.Glu1106Lys		60043341	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233612	0.79688	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.45276	0.9;0.9;0.9	5.66	5.66	0.87406	.	0.058966	0.64402	D	0.000003	T	0.45577	0.1349	L	0.49126	1.545	0.58432	D	0.999997	D;D;D;D	0.63880	0.991;0.98;0.993;0.976	P;P;P;B	0.47864	0.477;0.559;0.559;0.427	T	0.22977	-1.0201	10	0.13108	T	0.6	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	1063;1106;1063;1106	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	1063;1106;1106;1106	ENSP00000249837:E1063K;ENSP00000261517:E1106K;ENSP00000379233:E1106K	ENSP00000249837:E1063K	E	-	1	0	VPS13C	60043341	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	6.902000	0.75699	2.656000	0.90262	0.655000	0.94253	GAA		0.353	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62269297	62269297	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62269297C>A	ENST00000261517.5	-	24	2465	c.2392G>T	c.(2392-2394)Gac>Tac	p.D798Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.D798Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D755Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D755Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.D798Y(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTCTAATGTCTTTTTCTACC	0.358																																					p.D755Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2263T	15						.						87.0	81.0	83.0					15																	62269297		2203	4300	6503	60056589	SO:0001583	missense	54832	exon22			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2392G>T	15.37:g.62269297C>A	ENSP00000261517:p.Asp798Tyr		60056589	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275515	0.80580	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.55588	0.51;0.51;0.51	5.02	5.02	0.67125	.	0.051050	0.85682	D	0.000000	T	0.74604	0.3738	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.992;0.999	T	0.73936	-0.3825	10	0.38643	T	0.18	.	19.2184	0.93786	0.0:1.0:0.0:0.0	.	755;798;755;798	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	755;798;798;798	ENSP00000249837:D755Y;ENSP00000261517:D798Y;ENSP00000379233:D798Y	ENSP00000249837:D755Y	D	-	1	0	VPS13C	60056589	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	6.869000	0.75521	2.704000	0.92352	0.591000	0.81541	GAC		0.358	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62305244	62305244	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62305244C>A	ENST00000261517.5	-	11	892	c.819G>T	c.(817-819)caG>caT	p.Q273H	VPS13C_ENST00000395896.4_Missense_Mutation_p.Q273H|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q230H|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q230H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.Q273H(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTACCAAAATCTGTTCCCTTG	0.373																																					p.Q230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	15						.						80.0	73.0	75.0					15																	62305244		2203	4299	6502	60092536	SO:0001583	missense	54832	exon9			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.819G>T	15.37:g.62305244C>A	ENSP00000261517:p.Gln273His		60092536	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758512	0.31137	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.46819	0.87;0.86;1.04	5.83	2.89	0.33648	.	0.568411	0.17787	N	0.162030	T	0.37812	0.1017	L	0.45137	1.4	0.27060	N	0.96357	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.12156	0.002;0.003;0.007;0.002	T	0.31392	-0.9945	10	0.54805	T	0.06	.	8.0047	0.30319	0.0:0.4724:0.3827:0.1449	.	230;273;230;273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	230;273;273;273	ENSP00000249837:Q230H;ENSP00000261517:Q273H;ENSP00000379233:Q273H	ENSP00000249837:Q230H	Q	-	3	2	VPS13C	60092536	0.952000	0.32445	1.000000	0.80357	0.988000	0.76386	-0.043000	0.12043	0.363000	0.24346	-0.145000	0.13849	CAG		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62306149	62306149	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:62306149C>A	ENST00000261517.5	-	10	800	c.727G>T	c.(727-729)Gac>Tac	p.D243Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.D243Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D200Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D200Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.D243Y(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAATTTTGTCTGCTTCATTT	0.323																																					p.D200Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598T	15						.						85.0	87.0	86.0					15																	62306149		2203	4299	6502	60093441	SO:0001583	missense	54832	exon8			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.727G>T	15.37:g.62306149C>A	ENSP00000261517:p.Asp243Tyr		60093441	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491975	0.44352	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.47869	0.83;0.84;1.0	5.24	5.24	0.73138	.	0.444110	0.22924	N	0.053989	T	0.36580	0.0972	N	0.14661	0.345	0.26837	N	0.96845	P;P;B;P	0.42296	0.775;0.775;0.315;0.667	P;P;B;B	0.45343	0.477;0.477;0.284;0.285	T	0.31861	-0.9928	10	0.66056	D	0.02	.	10.8091	0.46535	0.0:0.8524:0.0:0.1476	.	200;243;200;243	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	200;243;243;243	ENSP00000249837:D200Y;ENSP00000261517:D243Y;ENSP00000379233:D243Y	ENSP00000249837:D200Y	D	-	1	0	VPS13C	60093441	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.671000	0.54576	2.605000	0.88082	0.585000	0.79938	GAC		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
TLN2	83660	broad.mit.edu	37	15	63032911	63032911	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63032911C>A	ENST00000561311.1	+	31	4198	c.3968C>A	c.(3967-3969)tCt>tAt	p.S1323Y	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323Y			Q9Y4G6	TLN2_HUMAN	talin 2	1323					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S1323Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGCCAAGTCTCTCTCTGTA	0.493																																					p.S1323Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3968A	15						.						84.0	75.0	78.0					15																	63032911		2203	4300	6503	60820203	SO:0001583	missense	83660	exon29			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3968C>A	15.37:g.63032911C>A	ENSP00000453508:p.Ser1323Tyr		60820203	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274694	0.59649	.	.	ENSG00000171914	ENST00000306829	T	0.15017	2.46	5.87	5.87	0.94306	.	0.094038	0.85682	D	0.000000	T	0.26846	0.0657	L	0.61218	1.895	0.80722	D	1	B	0.33135	0.399	B	0.38156	0.266	T	0.01099	-1.1452	10	0.29301	T	0.29	-13.3132	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1323	Q9Y4G6	TLN2_HUMAN	Y	1323	ENSP00000303476:S1323Y	ENSP00000303476:S1323Y	S	+	2	0	TLN2	60820203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCT		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TLN2	83660	broad.mit.edu	37	15	63040640	63040640	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63040640C>T	ENST00000561311.1	+	32	4346	c.4116C>T	c.(4114-4116)ctC>ctT	p.L1372L	TLN2_ENST00000306829.6_Silent_p.L1372L			Q9Y4G6	TLN2_HUMAN	talin 2	1372					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1372L(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCGGGAGCTCGAGGTAGGTC	0.532																																					p.L1372L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4116T	15						.						84.0	81.0	82.0					15																	63040640		2203	4300	6503	60827932	SO:0001819	synonymous_variant	83660	exon30			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4116C>T	15.37:g.63040640C>T			60827932	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TLN2	83660	broad.mit.edu	37	15	63044599	63044599	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63044599C>A	ENST00000561311.1	+	34	4535	c.4305C>A	c.(4303-4305)ctC>ctA	p.L1435L	TLN2_ENST00000306829.6_Silent_p.L1435L			Q9Y4G6	TLN2_HUMAN	talin 2	1435					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1435L(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCAAGGCTCTCTGTGGGCTGA	0.597																																					p.L1435L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4305A	15						.						111.0	104.0	106.0					15																	63044599		2203	4300	6503	60831891	SO:0001819	synonymous_variant	83660	exon32			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4305C>A	15.37:g.63044599C>A			60831891	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.597	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TLN2	83660	broad.mit.edu	37	15	63058571	63058571	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63058571G>A	ENST00000561311.1	+	40	5376	c.5146G>A	c.(5146-5148)Gat>Aat	p.D1716N	TLN2_ENST00000472902.1_Missense_Mutation_p.D109N|TLN2_ENST00000306829.6_Missense_Mutation_p.D1716N			Q9Y4G6	TLN2_HUMAN	talin 2	1716					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D1716N(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACACCTTATCGATCCCATCGC	0.567																																					p.D1716N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5146A	15						.						65.0	53.0	57.0					15																	63058571		2203	4300	6503	60845863	SO:0001583	missense	83660	exon38			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5146G>A	15.37:g.63058571G>A	ENSP00000453508:p.Asp1716Asn		60845863	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691064	0.88735	.	.	ENSG00000171914	ENST00000306829	T	0.13089	2.62	5.58	5.58	0.84498	.	0.043287	0.85682	D	0.000000	T	0.28300	0.0699	L	0.54323	1.7	0.80722	D	1	D;D	0.58620	0.983;0.972	P;P	0.55222	0.771;0.684	T	0.00230	-1.1897	10	0.33141	T	0.24	-20.3654	19.568	0.95403	0.0:0.0:1.0:0.0	.	760;1716	G1UI21;Q9Y4G6	.;TLN2_HUMAN	N	1716	ENSP00000303476:D1716N	ENSP00000303476:D1716N	D	+	1	0	TLN2	60845863	1.000000	0.71417	0.965000	0.40720	0.918000	0.54935	9.700000	0.98707	2.626000	0.88956	0.655000	0.94253	GAT		0.567	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TLN2	83660	broad.mit.edu	37	15	63084842	63084842	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63084842C>T	ENST00000561311.1	+	45	5969	c.5739C>T	c.(5737-5739)atC>atT	p.I1913I	TLN2_ENST00000306829.6_Silent_p.I1913I			Q9Y4G6	TLN2_HUMAN	talin 2	1913					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I1913I(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCTGCAGATCGGATTCCAGA	0.587																																					p.I1913I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5739T	15						.						70.0	59.0	63.0					15																	63084842		2203	4299	6502	60871895	SO:0001819	synonymous_variant	83660	exon43			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5739C>T	15.37:g.63084842C>T			60871895	NM_015059	A6NLB8	Silent	SNP	ENST00000561311.1	37	CCDS32261.1																																																																																				0.587	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
TLN2	83660	broad.mit.edu	37	15	63132761	63132761	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63132761G>T	ENST00000561311.1	+	58	7811	c.7581G>T	c.(7579-7581)caG>caT	p.Q2527H	RP11-1069G10.1_ENST00000557994.1_RNA|RP11-1069G10.1_ENST00000560963.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.Q2527H|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2527	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q2527H(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAATCCGCCAGCAGCAGTATA	0.532																																					p.Q2527H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7581T	15						.						60.0	65.0	63.0					15																	63132761		2203	4300	6503	60919814	SO:0001583	missense	83660	exon56			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7581G>T	15.37:g.63132761G>T	ENSP00000453508:p.Gln2527His		60919814	NM_015059	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127800	0.56721	.	.	ENSG00000171914	ENST00000306829	T	0.44482	0.92	5.59	3.64	0.41730	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.17474	0.49	0.49299	D	0.999774	D;D	0.76494	0.999;0.998	D;D	0.91635	0.979;0.999	T	0.35076	-0.9803	10	0.46703	T	0.11	-15.4165	9.7769	0.40626	0.2789:0.0:0.7211:0.0	.	143;2527	B4DGF3;Q9Y4G6	.;TLN2_HUMAN	H	2527	ENSP00000303476:Q2527H	ENSP00000303476:Q2527H	Q	+	3	2	TLN2	60919814	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.902000	0.48703	0.617000	0.30160	0.655000	0.94253	CAG		0.532	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
RAB8B	51762	broad.mit.edu	37	15	63547774	63547774	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63547774C>A	ENST00000321437.4	+	4	471	c.315C>A	c.(313-315)aaC>aaA	p.N105K	RAB8B_ENST00000448330.2_Missense_Mutation_p.N105K	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	105					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.N105K(1)		kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GGATCAGAAACATTGAAGAGG	0.398																																					p.N105K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C315A	15						.						58.0	62.0	61.0					15																	63547774		2203	4300	6503	61334827	SO:0001583	missense	51762	exon4			AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.315C>A	15.37:g.63547774C>A	ENSP00000312734:p.Asn105Lys		61334827	NM_016530	Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867171	0.72065	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.75821	-0.97;-0.97	5.92	5.92	0.95590	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	N	0.25647	0.755	0.54753	D	0.99998	D;D	0.54047	0.957;0.964	P;P	0.55345	0.513;0.774	T	0.78448	-0.2200	10	0.72032	D	0.01	.	19.3123	0.94195	0.0:1.0:0.0:0.0	.	105;105	F5GY21;Q92930	.;RAB8B_HUMAN	K	105	ENSP00000312734:N105K;ENSP00000405463:N105K	ENSP00000312734:N105K	N	+	3	2	RAB8B	61334827	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.579000	0.36536	2.811000	0.96726	0.555000	0.69702	AAC		0.398	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530	
APH1B	83464	broad.mit.edu	37	15	63571366	63571366	+	Missense_Mutation	SNP	C	C	A	rs11554840		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63571366C>A	ENST00000261879.5	+	2	190	c.120C>A	c.(118-120)ttC>ttA	p.F40L	APH1B_ENST00000380343.4_Missense_Mutation_p.F40L	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	40					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)	p.F40L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TCAGAGCTTTCTTCTGGTTGG	0.363																																					p.F40L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C120A	15						.						179.0	164.0	169.0					15																	63571366		2203	4300	6503	61358419	SO:0001583	missense	83464	exon2			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.120C>A	15.37:g.63571366C>A	ENSP00000261879:p.Phe40Leu		61358419	NM_031301	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.676325|2.676325	0.47886|0.47886	.|.	.|.	ENSG00000138613|ENSG00000138613	ENST00000380343;ENST00000261879|ENST00000380340	T;T|.	0.54479|.	0.57;0.57|.	4.64|4.64	0.419|0.419	0.16438|0.16438	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72431|0.72431	0.3459|0.3459	M|M	0.85373|0.85373	2.75|2.75	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.79108|.	0.992;0.992|.	T|T	0.72010|0.72010	-0.4419|-0.4419	10|6	0.35671|0.87932	T|D	0.21|0	-17.8101|-17.8101	7.593|7.593	0.28031|0.28031	0.0:0.5953:0.0:0.4047|0.0:0.5953:0.0:0.4047	rs11554840|rs11554840	40;40|.	Q564N3;Q8WW43|.	.;APH1B_HUMAN|.	L|I	40|62	ENSP00000369700:F40L;ENSP00000261879:F40L|.	ENSP00000261879:F40L|ENSP00000369697:L62I	F|L	+|+	3|1	2|0	APH1B|APH1B	61358419|61358419	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	0.582000|0.582000	0.23834|0.23834	0.118000|0.118000	0.18165|0.18165	0.462000|0.462000	0.41574|0.41574	TTC|CTT		0.363	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301	
HERC1	8925	broad.mit.edu	37	15	63943477	63943477	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63943477C>A	ENST00000443617.2	-	53	10608	c.10521G>T	c.(10519-10521)aaG>aaT	p.K3507N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3507					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K3507N(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATTCACCATCTTTTCCAAAG	0.423																																					p.K3507N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10521T	15						.						114.0	108.0	110.0					15																	63943477		1826	4087	5913	61730530	SO:0001583	missense	8925	exon53			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10521G>T	15.37:g.63943477C>A	ENSP00000390158:p.Lys3507Asn		61730530	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398031	0.62177	.	.	ENSG00000103657	ENST00000443617	T	0.62364	0.03	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	N	0.12746	0.255	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	T	0.63220	-0.6686	10	0.21540	T	0.41	.	19.258	0.93955	0.0:1.0:0.0:0.0	.	3507	Q15751	HERC1_HUMAN	N	3507	ENSP00000390158:K3507N	ENSP00000390158:K3507N	K	-	3	2	HERC1	61730530	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.206000	0.42779	2.554000	0.86153	0.655000	0.94253	AAG		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63955346	63955346	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63955346G>T	ENST00000443617.2	-	44	8825	c.8738C>A	c.(8737-8739)tCt>tAt	p.S2913Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2913					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S2913Y(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGCTGCAAAGATATTCCTTC	0.418																																					p.S2913Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8738A	15						.						171.0	173.0	172.0					15																	63955346		1919	4117	6036	61742399	SO:0001583	missense	8925	exon44			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8738C>A	15.37:g.63955346G>T	ENSP00000390158:p.Ser2913Tyr		61742399	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089990	0.55968	.	.	ENSG00000103657	ENST00000443617	T	0.24723	1.84	5.77	5.77	0.91146	.	0.074067	0.53938	U	0.000047	T	0.23572	0.0570	N	0.22421	0.69	0.49687	D	0.999813	P	0.47350	0.894	B	0.41723	0.365	T	0.02358	-1.1171	10	0.87932	D	0	.	20.0615	0.97676	0.0:0.0:1.0:0.0	.	2913	Q15751	HERC1_HUMAN	Y	2913	ENSP00000390158:S2913Y	ENSP00000390158:S2913Y	S	-	2	0	HERC1	61742399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.445000	0.73456	2.748000	0.94277	0.549000	0.68633	TCT		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63966843	63966843	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63966843G>A	ENST00000443617.2	-	38	7631	c.7544C>T	c.(7543-7545)gCt>gTt	p.A2515V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2515					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A2515V(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGACTTCATAGCACCGAGGTA	0.438																																					p.A2515V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7544T	15						.						59.0	58.0	58.0					15																	63966843		1973	4161	6134	61753896	SO:0001583	missense	8925	exon38			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7544C>T	15.37:g.63966843G>A	ENSP00000390158:p.Ala2515Val		61753896	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082602	0.94050	.	.	ENSG00000103657	ENST00000443617	T	0.39592	1.07	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.57911	-0.7729	10	0.87932	D	0	.	20.1991	0.98252	0.0:0.0:1.0:0.0	.	2515	Q15751	HERC1_HUMAN	V	2515	ENSP00000390158:A2515V	ENSP00000390158:A2515V	A	-	2	0	HERC1	61753896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	GCT		0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63984706	63984706	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:63984706G>A	ENST00000443617.2	-	31	5821	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1912					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1912C(4)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACAACTCTGCGAAGAAAAACT	0.403																																					p.R1912C												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.C5734T	15						.						69.0	65.0	66.0					15																	63984706		1817	4084	5901	61771759	SO:0001583	missense	8925	exon31			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5734C>T	15.37:g.63984706G>A	ENSP00000390158:p.Arg1912Cys		61771759	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115422	0.77323	.	.	ENSG00000103657	ENST00000443617	T	0.42131	0.98	5.64	4.69	0.59074	.	0.000000	0.64402	U	0.000001	T	0.53818	0.1820	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.55976	-0.8055	10	0.87932	D	0	.	14.3837	0.66929	0.0:0.0:0.7359:0.2641	.	1912	Q15751	HERC1_HUMAN	C	1912	ENSP00000390158:R1912C	ENSP00000390158:R1912C	R	-	1	0	HERC1	61771759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.224000	0.51238	2.652000	0.90054	0.650000	0.86243	CGC		0.403	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	64025343	64025343	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:64025343C>A	ENST00000443617.2	-	14	2735	c.2648G>T	c.(2647-2649)aGa>aTa	p.R883I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	883					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R883I(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGTTGCATTCTCTAAAGAAC	0.388																																					p.R883I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2648T	15						.						105.0	101.0	102.0					15																	64025343		1893	4113	6006	61812396	SO:0001630	splice_region_variant	8925	exon14			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2647-1G>T	15.37:g.64025343C>A			61812396	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259865	0.95368	.	.	ENSG00000103657	ENST00000443617	T	0.30714	1.52	5.73	5.73	0.89815	.	0.000000	0.85682	U	0.000000	T	0.55289	0.1911	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.54616	-0.8267	10	0.87932	D	0	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	883	Q15751	HERC1_HUMAN	I	883	ENSP00000390158:R883I	ENSP00000390158:R883I	R	-	2	0	HERC1	61812396	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.709000	0.84645	2.693000	0.91896	0.655000	0.94253	AGA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Missense_Mutation
SNX1	6642	broad.mit.edu	37	15	64420005	64420005	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:64420005G>T	ENST00000559844.1	+	8	821	c.807G>T	c.(805-807)gaG>gaT	p.E269D	SNX1_ENST00000261889.5_Splice_Site_p.E269D|SNX1_ENST00000353874.4_Splice_Site_p.E269D|SNX1_ENST00000561026.1_Splice_Site_p.E204D|SNX1_ENST00000560829.1_Splice_Site_p.E51D			Q13596	SNX1_HUMAN	sorting nexin 1	269	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.E269D(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAAAAGAAGAGGTTAGTATTC	0.378																																					p.E269D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G807T	15						.						89.0	86.0	87.0					15																	64420005		2203	4300	6503	62207058	SO:0001630	splice_region_variant	6642	exon8			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.807+1G>T	15.37:g.64420005G>T			62207058	NM_003099	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	ENST00000559844.1	37	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430205	0.43122	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.36157	1.27	4.64	3.72	0.42706	Phox homologous domain (2);	0.103824	0.64402	D	0.000004	T	0.26122	0.0637	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B	0.11235	0.001;0.0;0.004;0.001;0.0;0.001	B;B;B;B;B;B	0.19946	0.01;0.003;0.027;0.012;0.001;0.01	T	0.05099	-1.0906	10	0.13853	T	0.58	-33.4654	12.2507	0.54597	0.083:0.0:0.917:0.0	.	269;179;269;204;269;269	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	D	269;269;204	ENSP00000326668:E269D	ENSP00000261889:E204D	E	+	3	2	SNX1	62207058	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.674000	0.54598	1.299000	0.44798	-0.258000	0.10820	GAG		0.378	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	Missense_Mutation
SNX1	6642	broad.mit.edu	37	15	64428564	64428564	+	Silent	SNP	C	C	T	rs76908230	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:64428564C>T	ENST00000559844.1	+	13	1415	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SNX1_ENST00000261889.5_Silent_p.F467F|SNX1_ENST00000353874.4_Silent_p.F419F|SNX1_ENST00000561026.1_Silent_p.F402F|SNX1_ENST00000560829.1_Silent_p.F249F			Q13596	SNX1_HUMAN	sorting nexin 1	467	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.F467F(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAAGGGACTTCGAGAGGATTT	0.428													C|||	22	0.00439297	0.0159	0.0014	5008	,	,		23089	0.0		0.0	False		,,,				2504	0.0				p.F467F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1401T	15						.	C	,	51,4355	52.3+/-87.9	1,49,2153	144.0	137.0	140.0		1401,1206	2.4	1.0	15	dbSNP_131	140	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SNX1	NM_003099.4,NM_148955.3	,	1,49,6453	TT,TC,CC		0.0,1.1575,0.3921	,	467/523,402/458	64428564	51,12955	2203	4300	6503	62215617	SO:0001819	synonymous_variant	6642	exon13			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1401C>T	15.37:g.64428564C>T			62215617	NM_003099	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Silent	SNP	ENST00000559844.1	37	CCDS32266.1																																																																																				0.428	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099	
ZNF609	23060	broad.mit.edu	37	15	64791682	64791682	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:64791682G>A	ENST00000326648.3	+	1	192	c.64G>A	c.(64-66)Gac>Aac	p.D22N	ZNF609_ENST00000416172.1_Missense_Mutation_p.D22N	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	22						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.D22N(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAGACATACGACAGTGGGGA	0.512																																					p.D22N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G64A	15						.						166.0	147.0	154.0					15																	64791682		2203	4300	6503	62578735	SO:0001583	missense	23060	exon1			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.64G>A	15.37:g.64791682G>A	ENSP00000316527:p.Asp22Asn		62578735	NM_015042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.697412	0.88830	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	T	0.60171	0.21	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78130	-0.2324	10	0.72032	D	0.01	-18.7935	19.7418	0.96234	0.0:0.0:1.0:0.0	.	22;22	E7ERY8;O15014	.;ZN609_HUMAN	N	22	ENSP00000316527:D22N	ENSP00000316527:D22N	D	+	1	0	ZNF609	62578735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.799000	0.99117	2.742000	0.94016	0.645000	0.84053	GAC		0.512	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
OAZ2	4947	broad.mit.edu	37	15	64982667	64982667	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:64982667C>T	ENST00000326005.6	-	4	491	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.E87K|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	87					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	ACCTTCACCTCGGTGACCTCA	0.517																																					p.R87Q												.	.	0			c.G260A	15						.						162.0	156.0	158.0					15																	64982667		1944	4143	6087	62769720	SO:0001583	missense	4947	exon3			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.259G>A	15.37:g.64982667C>T	ENSP00000463013:p.Glu87Lys		62769720	NM_002537		Missense_Mutation	SNP	ENST00000326005.6	37	CCDS58372.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750170	0.69533	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.84	5.84	0.93424	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.83865	0.0270	9	0.56958	D	0.05	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	87	O95190	OAZ2_HUMAN	K	85	.	ENSP00000316264:E85K	E	-	1	0	OAZ2	62769720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.788000	0.55446	2.769000	0.95229	0.563000	0.77884	GAG		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418707.2	NM_002537	
ANKDD1A	348094	broad.mit.edu	37	15	65239797	65239797	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65239797C>T	ENST00000380230.3	+	13	1364	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	ANKDD1A_ENST00000395723.1_Silent_p.I322I|ANKDD1A_ENST00000395720.1_Silent_p.I445I|ANKDD1A_ENST00000357698.3_Silent_p.I413I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	445	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)			p.I445I(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCGACGCCATCGAGCAACAGT	0.582																																					p.I445I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335T	15						.						70.0	46.0	54.0					15																	65239797		2202	4299	6501	63026850	SO:0001819	synonymous_variant	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.1335C>T	15.37:g.65239797C>T			63026850	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																				0.582	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
ANKDD1A	348094	broad.mit.edu	37	15	65242156	65242156	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65242156C>T	ENST00000380230.3	+	14	1475	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	ANKDD1A_ENST00000395723.1_Silent_p.F359F|ANKDD1A_ENST00000395720.1_Silent_p.F482F|ANKDD1A_ENST00000357698.3_Silent_p.F450F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	482	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)			p.F482F(2)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AAGCGCTGTTCGAGGGCCTCG	0.632																																					p.F482F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1446T	15						.						85.0	84.0	84.0					15																	65242156		2202	4299	6501	63029209	SO:0001819	synonymous_variant	348094	exon14				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.1446C>T	15.37:g.65242156C>T			63029209	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Silent	SNP	ENST00000380230.3	37	CCDS10197.2																																																																																				0.632	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
MTFMT	123263	broad.mit.edu	37	15	65295559	65295559	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65295559C>A	ENST00000220058.4	-	9	1024	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	337						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)	p.K337N(2)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TTAGTGATTTCTTGAGCATCA	0.408																																					p.K337N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1011T	15						.						90.0	79.0	83.0					15																	65295559		1869	4108	5977	63082612	SO:0001583	missense	123263	exon9			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1011G>T	15.37:g.65295559C>A	ENSP00000220058:p.Lys337Asn		63082612	NM_139242	B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320146	0.60634	.	.	ENSG00000103707	ENST00000220058	T	0.56776	0.44	5.23	5.23	0.72850	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.050432	0.85682	D	0.000000	T	0.71273	0.3320	M	0.80847	2.515	0.45899	D	0.998743	P	0.51537	0.946	P	0.59889	0.865	T	0.75665	-0.3239	10	0.87932	D	0	-17.8582	16.0551	0.80798	0.0:1.0:0.0:0.0	.	337	Q96DP5	FMT_HUMAN	N	337	ENSP00000220058:K337N	ENSP00000220058:K337N	K	-	3	2	MTFMT	63082612	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	1.814000	0.38972	2.581000	0.87130	0.591000	0.81541	AAG		0.408	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	
CILP	8483	broad.mit.edu	37	15	65490080	65490080	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65490080G>A	ENST00000261883.4	-	9	2710	c.2544C>T	c.(2542-2544)ggC>ggT	p.G848G		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	848					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.G848G(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCTGAGGGACGCCAATTGCAT	0.522																																					p.G848G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2544T	15						.						123.0	104.0	111.0					15																	65490080		2200	4297	6497	63277133	SO:0001819	synonymous_variant	8483	exon9			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2544C>T	15.37:g.65490080G>A			63277133	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.522	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
IGDCC3	9543	broad.mit.edu	37	15	65624345	65624345	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65624345A>G	ENST00000327987.4	-	7	1333	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	361	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.V361A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCACGTGACATGAGGCGG	0.602																																					p.V361A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1082C	15						.						98.0	82.0	87.0					15																	65624345		2201	4299	6500	63411398	SO:0001583	missense	9543	exon7			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1082T>C	15.37:g.65624345A>G	ENSP00000332773:p.Val361Ala		63411398	NM_004884	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673884	0.47781	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.76578	-1.03	4.42	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.161524	0.45126	D	0.000396	D	0.82444	0.5038	M	0.70903	2.155	0.47214	D	0.999354	P	0.43287	0.802	P	0.50192	0.634	D	0.85137	0.0978	10	0.87932	D	0	-24.5864	13.9773	0.64282	1.0:0.0:0.0:0.0	.	361	Q8IVU1	IGDC3_HUMAN	A	361;224	ENSP00000332773:V361A	ENSP00000332773:V361A	V	-	2	0	IGDCC3	63411398	1.000000	0.71417	0.565000	0.28409	0.007000	0.05969	9.283000	0.95860	1.741000	0.51731	0.533000	0.62120	GTC		0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
SLC24A1	9187	broad.mit.edu	37	15	65917024	65917024	+	Silent	SNP	G	G	A	rs367903341	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:65917024G>A	ENST00000261892.6	+	2	893	c.606G>A	c.(604-606)ccG>ccA	p.P202P	SLC24A1_ENST00000546330.1_Silent_p.P202P|SLC24A1_ENST00000399033.4_Silent_p.P202P|SLC24A1_ENST00000537259.1_Silent_p.P202P|SLC24A1_ENST00000544319.2_Silent_p.P202P|SLC24A1_ENST00000339868.6_Silent_p.P202P	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	202					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.P202P(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTACGTGCCGTCCACATTCA	0.478													A|||	2	0.000399361	0.0	0.0	5008	,	,		21295	0.0		0.0	False		,,,				2504	0.002				p.P202P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	15						.	A		0,3992		0,0,1996	41.0	40.0	40.0		606	-2.7	0.0	15		40	1,8347		0,1,4173	no	coding-synonymous	SLC24A1	NM_004727.2		0,1,6169	AA,AG,GG		0.012,0.0,0.0081		202/1100	65917024	1,12339	1996	4174	6170	63704077	SO:0001819	synonymous_variant	9187	exon2			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.606G>A	15.37:g.65917024G>A			63704077	NM_004727	O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	CCDS45284.1																																																																																				0.478	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
DENND4A	10260	broad.mit.edu	37	15	66025127	66025127	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66025127G>T	ENST00000431932.2	-	8	1278	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	DENND4A_ENST00000443035.3_Missense_Mutation_p.P357H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	357	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P357H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGATGGAAAAGGAACTTTATG	0.353																																					p.P357H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1070A	15						.						75.0	67.0	70.0					15																	66025127		1839	4079	5918	63812181	SO:0001583	missense	10260	exon8			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1070C>A	15.37:g.66025127G>T	ENSP00000396830:p.Pro357His		63812181	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894842	0.91962	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.13778	2.56;2.56	5.33	5.33	0.75918	DENN (3);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.89658	3.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.58561	-0.7615	10	0.87932	D	0	.	19.0016	0.92836	0.0:0.0:1.0:0.0	.	357;357;357	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	357	ENSP00000391167:P357H;ENSP00000396830:P357H	ENSP00000396830:P357H	P	-	2	0	DENND4A	63812181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.539000	0.98076	2.492000	0.84095	0.484000	0.47621	CCT		0.353	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	66044917	66044917	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66044917G>T	ENST00000431932.2	-	4	569	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q121K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	121	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q121K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGAGTACTCTGAATAATTTCA	0.333																																					p.Q121K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361A	15						.						43.0	38.0	40.0					15																	66044917		1805	4059	5864	63831971	SO:0001583	missense	10260	exon4			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.361C>A	15.37:g.66044917G>T	ENSP00000396830:p.Gln121Lys		63831971	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369363	0.42003	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.24908	1.83;1.83	5.1	4.17	0.49024	MABP domain (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.46947	1.48	0.80722	D	1	B;D;D	0.61080	0.002;0.989;0.987	B;D;P	0.64776	0.01;0.929;0.902	T	0.13737	-1.0498	10	0.35671	T	0.21	.	15.0581	0.71930	0.0:0.0:0.8568:0.1432	.	121;121;121	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	K	121	ENSP00000391167:Q121K;ENSP00000396830:Q121K	ENSP00000396830:Q121K	Q	-	1	0	DENND4A	63831971	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	5.537000	0.67186	1.220000	0.43490	0.563000	0.77884	CAG		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
RAB11A	8766	broad.mit.edu	37	15	66169727	66169727	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66169727G>A	ENST00000261890.2	+	2	226	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000569896.1_Missense_Mutation_p.R33Q|RAB11A_ENST00000565075.1_Missense_Mutation_p.R33Q|RAB11A_ENST00000435304.2_Missense_Mutation_p.R33Q	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	33					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)	p.R33Q(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGATTTACTCGAAATGAGTTT	0.398																																					p.R33Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G98A	15						.						90.0	81.0	84.0					15																	66169727		2201	4299	6500	63956781	SO:0001583	missense	8766	exon2			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.98G>A	15.37:g.66169727G>A	ENSP00000261890:p.Arg33Gln		63956781	NM_004663	B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664992	0.88251	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.76186	-1.0;-1.0	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	N	0.12663	0.25	0.80722	D	1	P;B	0.38642	0.641;0.222	B;B	0.26310	0.065;0.068	T	0.66031	-0.6024	10	0.87932	D	0	.	19.2309	0.93839	0.0:0.0:1.0:0.0	.	33;33	B4DT13;P62491	.;RB11A_HUMAN	Q	33	ENSP00000261890:R33Q;ENSP00000405767:R33Q	ENSP00000261890:R33Q	R	+	2	0	RAB11A	63956781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.976000	0.88070	2.536000	0.85505	0.655000	0.94253	CGA		0.398	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1		
MEGF11	84465	broad.mit.edu	37	15	66210410	66210410	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66210410C>T	ENST00000409699.2	-	16	2152	c.1980G>A	c.(1978-1980)ggG>ggA	p.G660G	MEGF11_ENST00000360698.4_Silent_p.G660G|MEGF11_ENST00000422354.1_Silent_p.G660G|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Silent_p.G585G|MEGF11_ENST00000288745.3_Silent_p.G585G			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	660	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G585G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CACAGTCCTGCCCAAAGTATC	0.602																																					p.G660G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1980A	15						.						93.0	69.0	77.0					15																	66210410		2201	4299	6500	63997464	SO:0001819	synonymous_variant	84465	exon16			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1980G>A	15.37:g.66210410C>T			63997464	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	CCDS10213.2																																																																																				0.602	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
DIS3L	115752	broad.mit.edu	37	15	66625388	66625388	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66625388G>A	ENST00000319212.4	+	17	2953	c.2903G>A	c.(2902-2904)aGa>aAa	p.R968K	DIS3L_ENST00000319194.5_Missense_Mutation_p.R885K|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	968					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.R968K(1)|p.R885K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATACAATCAGACTTGAAATA	0.333																																					p.R968K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2903A	15						.						56.0	59.0	58.0					15																	66625388		2201	4299	6500	64412442	SO:0001583	missense	115752	exon17				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2903G>A	15.37:g.66625388G>A	ENSP00000321711:p.Arg968Lys		64412442	NM_001143688	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964959	0.34659	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.21543	2.0;2.0	5.79	5.79	0.91817	.	0.559608	0.21143	N	0.079445	T	0.11537	0.0281	N	0.16307	0.4	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.06661	-1.0814	10	0.05525	T	0.97	-13.4496	12.2704	0.54702	0.085:0.0:0.915:0.0	.	968	Q8TF46	DI3L1_HUMAN	K	885;968	ENSP00000321583:R885K;ENSP00000321711:R968K	ENSP00000321583:R885K	R	+	2	0	DIS3L	64412442	1.000000	0.71417	0.951000	0.38953	0.770000	0.43624	4.502000	0.60400	2.734000	0.93682	0.655000	0.94253	AGA		0.333	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375	
MAP2K1	5604	broad.mit.edu	37	15	66781590	66781590	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:66781590A>C	ENST00000307102.5	+	9	1529	c.998A>C	c.(997-999)gAa>gCa	p.E333A	CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Missense_Mutation_p.E157A|CTD-3185P2.2_ENST00000602360.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.E333A(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTCAGTCTGGAATTTCAAGAT	0.483																																					p.E333A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A998C	15						.						116.0	105.0	109.0					15																	66781590		2201	4299	6500	64568644	SO:0001583	missense	5604	exon9			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.998A>C	15.37:g.66781590A>C	ENSP00000302486:p.Glu333Ala		64568644	NM_002755		Missense_Mutation	SNP	ENST00000307102.5	37	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.361082	0.61403	.	.	ENSG00000169032	ENST00000307102	T	0.68181	-0.31	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.28115	0.83	0.80722	D	1	B;P	0.38535	0.045;0.635	B;B	0.39935	0.057;0.314	T	0.59820	-0.7382	10	0.44086	T	0.13	-24.4487	14.694	0.69107	1.0:0.0:0.0:0.0	.	311;333	B4DFY5;Q02750	.;MP2K1_HUMAN	A	333	ENSP00000302486:E333A	ENSP00000302486:E333A	E	+	2	0	MAP2K1	64568644	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.003000	0.93577	2.145000	0.66743	0.533000	0.62120	GAA		0.483	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4		
SMAD3	4088	broad.mit.edu	37	15	67459118	67459118	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:67459118G>T	ENST00000327367.4	+	4	844	c.534G>T	c.(532-534)gaG>gaT	p.E178D	SMAD3_ENST00000537194.2_5'UTR|SMAD3_ENST00000439724.3_Splice_Site_p.E134D|SMAD3_ENST00000540846.2_Splice_Site_p.E73D	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	178	Linker.			E -> EVGTWAAQAGL (in Ref. 3; BAA22032). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E178D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATTCCCAGAGACCCCACCCC	0.517																																					p.E134D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	15						.						86.0	67.0	73.0					15																	67459118		2200	4298	6498	65246172	SO:0001630	splice_region_variant	4088	exon4			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.533-1G>T	15.37:g.67459118G>T			65246172	NM_001145103	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	7.830	0.719633	0.15372	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724	D;D;D	0.97256	-4.31;-4.31;-4.31	5.03	-1.05	0.10036	SMAD/FHA domain (1);	0.110401	0.64402	D	0.000009	D	0.90689	0.7079	N	0.20530	0.585	0.48762	D	0.999706	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.001	T	0.78768	-0.2075	10	0.12766	T	0.61	.	10.4892	0.44741	0.499:0.0:0.5009:0.0	.	134;178	B7Z4Z5;P84022	.;SMAD3_HUMAN	D	178;178;73;134	ENSP00000332973:E178D;ENSP00000437757:E73D;ENSP00000401133:E134D	ENSP00000332973:E178D	E	+	3	2	SMAD3	65246172	1.000000	0.71417	0.997000	0.53966	0.887000	0.51463	0.855000	0.27805	-0.158000	0.11040	-0.266000	0.10368	GAG		0.517	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	Missense_Mutation
IQCH	64799	broad.mit.edu	37	15	67664702	67664702	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:67664702A>T	ENST00000335894.4	+	9	1073	c.1007A>T	c.(1006-1008)aAa>aTa	p.K336I	IQCH_ENST00000358767.3_Missense_Mutation_p.K163I|IQCH_ENST00000360277.4_Missense_Mutation_p.K88I|IQCH_ENST00000546225.1_Missense_Mutation_p.K84I	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	336								p.K336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGACGAATAAACTTACCAGA	0.433																																					p.K336I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1007T	15						.						109.0	117.0	114.0					15																	67664702		2201	4299	6500	65451756	SO:0001583	missense	64799	exon9			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1007A>T	15.37:g.67664702A>T	ENSP00000336861:p.Lys336Ile		65451756	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562749	0.27915	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.47177	0.85;0.86;0.86;0.85	5.53	-3.06	0.05379	.	0.554109	0.21244	N	0.077770	T	0.39733	0.1089	L	0.54323	1.7	0.09310	N	1	P;B;B;B;P	0.44380	0.834;0.178;0.178;0.006;0.727	B;B;B;B;B	0.43103	0.178;0.075;0.075;0.026;0.408	T	0.42032	-0.9475	10	0.40728	T	0.16	-5.4639	10.3943	0.44192	0.3348:0.1135:0.5517:0.0	.	163;84;88;336;163	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	I	163;84;336;88	ENSP00000351617:K163I;ENSP00000444118:K84I;ENSP00000336861:K336I;ENSP00000353419:K88I	ENSP00000336861:K336I	K	+	2	0	IQCH	65451756	0.001000	0.12720	0.000000	0.03702	0.713000	0.41058	-0.015000	0.12634	-0.376000	0.07943	0.482000	0.46254	AAA		0.433	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
IQCH	64799	broad.mit.edu	37	15	67713870	67713870	+	Silent	SNP	G	G	A	rs369243986		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:67713870G>A	ENST00000335894.4	+	16	2526	c.2460G>A	c.(2458-2460)tcG>tcA	p.S820S	IQCH_ENST00000358767.3_Silent_p.S556S|IQCH_ENST00000360277.4_Silent_p.S481S|IQCH_ENST00000546225.1_Silent_p.S477S|IQCH-AS1_ENST00000559298.1_lincRNA	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	820								p.S820S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTTACTTTTCGATAGATCTGG	0.443																																					p.S820S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2460A	15						.	G		1,4401	2.1+/-5.4	0,1,2200	100.0	91.0	94.0		2460	-9.5	0.0	15		94	0,8598		0,0,4299	no	coding-synonymous	IQCH	NM_001031715.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		820/1028	67713870	1,12999	2201	4299	6500	65500924	SO:0001819	synonymous_variant	64799	exon16			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2460G>A	15.37:g.67713870G>A			65500924	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	CCDS32273.1																																																																																				0.443	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
MAP2K5	5607	broad.mit.edu	37	15	67985905	67985905	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:67985905C>T	ENST00000178640.5	+	15	1598	c.971C>T	c.(970-972)gCg>gTg	p.A324V	MAP2K5_ENST00000340972.4_Splice_Site_p.A134V|MAP2K5_ENST00000395476.2_Splice_Site_p.A324V|MAP2K5_ENST00000354498.5_Splice_Site_p.A288V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A324V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GCTTATATGGCGGTAAGTAAA	0.303																																					p.A324V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971T	15						.						132.0	126.0	128.0					15																	67985905		2200	4296	6496	65772959	SO:0001630	splice_region_variant	5607	exon15			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.972+1C>T	15.37:g.67985905C>T			65772959	NM_145160	B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024210	0.75390	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000340972	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.82896	-0.0230	10	0.87932	D	0	-16.1519	19.5552	0.95342	0.0:1.0:0.0:0.0	.	134;324;324	A6NK28;Q13163-2;Q13163	.;.;MP2K5_HUMAN	V	324;324;324;288;134	ENSP00000378859:A324V;ENSP00000178640:A324V;ENSP00000346493:A288V;ENSP00000342101:A134V	ENSP00000178640:A324V	A	+	2	0	MAP2K5	65772959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.102000	0.77005	2.630000	0.89119	0.585000	0.79938	GCG		0.303	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162	Missense_Mutation
SKOR1	390598	broad.mit.edu	37	15	68118796	68118796	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:68118796C>T	ENST00000380035.2	+	2	688	c.630C>T	c.(628-630)tgC>tgT	p.C210C	SKOR1_ENST00000554240.1_Silent_p.C171C|SKOR1_ENST00000389002.1_Silent_p.C201C|SKOR1_ENST00000554054.1_Silent_p.C182C|SKOR1_ENST00000341418.5_Silent_p.C396C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	210					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.C201C(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCATCAAGTGCGGCTACTGCA	0.582																																					p.C201C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	15						.						108.0	94.0	99.0					15																	68118796		2200	4298	6498	65905850	SO:0001819	synonymous_variant	390598	exon2				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.630C>T	15.37:g.68118796C>T			65905850	NM_001031807	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	ENST00000380035.2	37																																																																																					0.582	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
CALML4	91860	broad.mit.edu	37	15	68489887	68489887	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:68489887T>G	ENST00000467889.1	-	4	568	c.384A>C	c.(382-384)gaA>gaC	p.E128D	CALML4_ENST00000540479.1_Missense_Mutation_p.E52D|CALML4_ENST00000395465.3_Intron|CALML4_ENST00000448060.2_Missense_Mutation_p.E81D|RP11-315D16.2_ENST00000562767.1_Missense_Mutation_p.N55H	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	128	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.E128D(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CTAGAAGAATTTCTTTCTTTG	0.473																																					p.E81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A243C	15						.						147.0	135.0	139.0					15																	68489887		1876	4102	5978	66276941	SO:0001583	missense	91860	exon3			AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"""EF-hand domain containing"""	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.384A>C	15.37:g.68489887T>G	ENSP00000419081:p.Glu128Asp		66276941	NM_001031733	B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Missense_Mutation	SNP	ENST00000467889.1	37	CCDS10226.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192156	0.78902	.	.	ENSG00000129007	ENST00000478113;ENST00000448060;ENST00000395463;ENST00000540479;ENST00000467889	T;T;T	0.79845	-1.31;1.12;1.12	4.88	-3.33	0.04958	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.64260	1.97	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84602	0.0673	10	0.72032	D	0.01	-32.2506	16.1666	0.81759	0.0:0.7165:0.0:0.2835	.	81;128	F8W6Y4;Q96GE6	.;CALL4_HUMAN	D	13;81;13;52;128	ENSP00000400755:E81D;ENSP00000438177:E52D;ENSP00000419081:E128D	ENSP00000435285:E13D	E	-	3	2	CALML4	66276941	0.769000	0.28531	0.717000	0.30585	0.985000	0.73830	-0.129000	0.10515	-0.894000	0.03925	0.402000	0.26972	GAA		0.473	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429	
ITGA11	22801	broad.mit.edu	37	15	68612698	68612698	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:68612698G>A	ENST00000315757.7	-	20	2527	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	ITGA11_ENST00000423218.2_Missense_Mutation_p.A814V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	814					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.A814V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCAGTCCTGCGCAGGCTTCCT	0.592																																					p.A814V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2441T	15						.						35.0	37.0	36.0					15																	68612698		2075	4222	6297	66399752	SO:0001583	missense	22801	exon20			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2441C>T	15.37:g.68612698G>A	ENSP00000327290:p.Ala814Val		66399752	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	g	6.056	0.378620	0.11466	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.60040	0.22;0.22	5.62	-6.55	0.01854	Integrin alpha-2 (1);	1.192530	0.05483	N	0.555229	T	0.41650	0.1168	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.09377	0.004;0.002	T	0.27706	-1.0066	10	0.28530	T	0.3	.	8.8121	0.34974	0.4943:0.0:0.3833:0.1225	.	814;814	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	814;814;449	ENSP00000327290:A814V;ENSP00000403392:A814V	ENSP00000327290:A814V	A	-	2	0	ITGA11	66399752	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.108000	0.03313	-0.907000	0.03862	-0.974000	0.02594	GCG		0.592	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
NOX5	79400	broad.mit.edu	37	15	69341382	69341382	+	Silent	SNP	C	C	T	rs143553877	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:69341382C>T	ENST00000388866.3	+	14	2024	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	NOX5_ENST00000260364.5_Silent_p.A643A|NOX5_ENST00000448182.3_Silent_p.A615A|NOX5_ENST00000455873.3_Silent_p.A626A|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000530406.2_Silent_p.A633A	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	661					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.A643A(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGGACCAGGCCGAGGAGGCTC	0.502													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17061	0.0		0.0	False		,,,				2504	0.0				p.A633A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1899T	15						.	C	,,	9,4391	16.8+/-37.8	0,9,2191	52.0	47.0	49.0		1899,1878,1983	-3.3	0.1	15	dbSNP_134	49	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	NOX5	NM_001184779.1,NM_001184780.1,NM_024505.3	,,	0,10,6488	TT,TC,CC		0.0116,0.2045,0.0769	,,	633/738,626/731,661/766	69341382	10,12986	2200	4298	6498	67128436	SO:0001819	synonymous_variant	79400	exon14			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1983C>T	15.37:g.69341382C>T			67128436	NM_001184779	B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	CCDS32276.2																																																																																				0.502	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
GLCE	26035	broad.mit.edu	37	15	69548197	69548197	+	Missense_Mutation	SNP	G	G	A	rs138637994		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:69548197G>A	ENST00000261858.2	+	3	280	c.52G>A	c.(52-54)Gca>Aca	p.A18T	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	18					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.A18T(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATTATCTGCGCACTCTTCAC	0.433																																					p.A18T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	15						.						147.0	136.0	140.0					15																	69548197		2200	4298	6498	67335251	SO:0001583	missense	26035	exon3			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.52G>A	15.37:g.69548197G>A	ENSP00000261858:p.Ala18Thr		67335251	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023355	0.54683	.	.	ENSG00000138604	ENST00000261858	T	0.36699	1.24	5.65	4.71	0.59529	.	0.101202	0.64402	N	0.000002	T	0.23572	0.0570	L	0.35288	1.05	0.50632	D	0.999884	B	0.27264	0.173	B	0.13407	0.009	T	0.06789	-1.0807	10	0.28530	T	0.3	2.4587	7.9826	0.30192	0.0842:0.0:0.7596:0.1562	.	18	O94923	GLCE_HUMAN	T	18	ENSP00000261858:A18T	ENSP00000261858:A18T	A	+	1	0	GLCE	67335251	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.093000	0.41710	1.460000	0.47911	0.655000	0.94253	GCA		0.433	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
GLCE	26035	broad.mit.edu	37	15	69548607	69548607	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:69548607C>A	ENST00000261858.2	+	3	690	c.462C>A	c.(460-462)ttC>ttA	p.F154L	GLCE_ENST00000559420.2_Missense_Mutation_p.F90L	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	154					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.F154L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTTGAATTCTCTCATAGCT	0.433																																					p.F154L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C462A	15						.						248.0	241.0	244.0					15																	69548607		2200	4298	6498	67335661	SO:0001583	missense	26035	exon3			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.462C>A	15.37:g.69548607C>A	ENSP00000261858:p.Phe154Leu		67335661	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833184	0.71258	.	.	ENSG00000138604	ENST00000261858	T	0.33216	1.42	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.42581	1.335	0.58432	D	0.999999	P	0.47762	0.9	P	0.46237	0.508	T	0.03008	-1.1083	10	0.52906	T	0.07	-18.1976	11.2039	0.48758	0.0:0.9147:0.0:0.0853	.	154	O94923	GLCE_HUMAN	L	154	ENSP00000261858:F154L	ENSP00000261858:F154L	F	+	3	2	GLCE	67335661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.917000	0.56424	2.578000	0.87016	0.655000	0.94253	TTC		0.433	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
GLCE	26035	broad.mit.edu	37	15	69561167	69561167	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:69561167C>A	ENST00000261858.2	+	5	1666	c.1438C>A	c.(1438-1440)Cta>Ata	p.L480I	GLCE_ENST00000559420.2_Missense_Mutation_p.L416I	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	480					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)	p.L480I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTATAAGTTTCTATCTGAGCA	0.383																																					p.L480I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1438A	15						.						57.0	64.0	61.0					15																	69561167		2200	4298	6498	67348221	SO:0001583	missense	26035	exon5			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1438C>A	15.37:g.69561167C>A	ENSP00000261858:p.Leu480Ile		67348221	NM_015554	Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023012	0.07634	.	.	ENSG00000138604	ENST00000261858	T	0.42513	0.97	5.01	4.07	0.47477	.	0.294208	0.37483	N	0.002061	T	0.25005	0.0607	N	0.14661	0.345	0.22648	N	0.998895	B	0.32010	0.351	B	0.31495	0.131	T	0.12915	-1.0529	10	0.22109	T	0.4	-27.6428	13.0708	0.59059	0.0:0.9155:0.0:0.0845	.	480	O94923	GLCE_HUMAN	I	480	ENSP00000261858:L480I	ENSP00000261858:L480I	L	+	1	2	GLCE	67348221	0.961000	0.32948	0.841000	0.33234	0.218000	0.24690	2.130000	0.42064	2.479000	0.83701	0.557000	0.71058	CTA		0.383	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554	
KIF23	9493	broad.mit.edu	37	15	69718484	69718484	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:69718484G>T	ENST00000260363.4	+	8	927	c.810G>T	c.(808-810)gtG>gtT	p.V270V	KIF23_ENST00000559279.1_Silent_p.V270V|KIF23_ENST00000537891.1_Silent_p.V87V|KIF23_ENST00000352331.4_Silent_p.V270V|KIF23_ENST00000395392.2_Silent_p.V270V|KIF23_ENST00000558585.1_Silent_p.V87V	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	270	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.V270V(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAGTTGAAGTGAAATCTACTG	0.358																																					p.V270V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810T	15						.						81.0	83.0	82.0					15																	69718484		2199	4298	6497	67505538	SO:0001819	synonymous_variant	9493	exon8			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.810G>T	15.37:g.69718484G>T			67505538	NM_004856	Q8WVP0	Silent	SNP	ENST00000260363.4	37	CCDS32278.1																																																																																				0.358	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
UACA	55075	broad.mit.edu	37	15	70959098	70959098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:70959098C>A	ENST00000322954.6	-	16	4110	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	UACA_ENST00000560441.1_Nonsense_Mutation_p.E1294*|UACA_ENST00000539319.1_Nonsense_Mutation_p.E1200*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E1296*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1309					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E1296*(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTAGCAGATTCTTGTATTCTT	0.383																																					p.E1309X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3925T	15						.						163.0	130.0	141.0					15																	70959098		2199	4298	6497	68746152	SO:0001587	stop_gained	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3925G>T	15.37:g.70959098C>A	ENSP00000314556:p.Glu1309*		68746152	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.242055	0.98722	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	.	.	.	5.85	5.85	0.93711	.	0.182125	0.38326	N	0.001730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-19.8524	14.9374	0.70967	0.1429:0.8571:0.0:0.0	.	.	.	.	X	1309;1296;1200	.	ENSP00000314556:E1309X	E	-	1	0	UACA	68746152	1.000000	0.71417	0.992000	0.48379	0.804000	0.45430	2.690000	0.47001	2.767000	0.95098	0.655000	0.94253	GAA		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	broad.mit.edu	37	15	70960820	70960820	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:70960820T>G	ENST00000322954.6	-	16	2388	c.2203A>C	c.(2203-2205)Aac>Cac	p.N735H	UACA_ENST00000560441.1_Missense_Mutation_p.N720H|UACA_ENST00000539319.1_Missense_Mutation_p.N626H|UACA_ENST00000379983.2_Missense_Mutation_p.N722H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	735					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.N722H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGTTAAGTTATGTGCTTGC	0.299																																					p.N735H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2203C	15						.						82.0	83.0	82.0					15																	70960820		2198	4294	6492	68747874	SO:0001583	missense	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2203A>C	15.37:g.70960820T>G	ENSP00000314556:p.Asn735His		68747874	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511563	0.44660	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.37;1.85	5.6	4.48	0.54585	.	0.396999	0.24359	N	0.039218	T	0.41949	0.1181	L	0.44542	1.39	0.09310	N	1	D;P;D;D	0.58620	0.98;0.938;0.964;0.983	P;P;P;P	0.56823	0.735;0.547;0.547;0.807	T	0.18745	-1.0327	10	0.35671	T	0.21	-15.7137	8.5125	0.33226	0.0:0.2158:0.0:0.7842	.	626;735;735;722	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	H	735;722;626	ENSP00000314556:N735H;ENSP00000369319:N722H;ENSP00000438667:N626H	ENSP00000314556:N735H	N	-	1	0	UACA	68747874	0.014000	0.17966	0.002000	0.10522	0.982000	0.71751	2.154000	0.42291	0.963000	0.38082	0.459000	0.35465	AAC		0.299	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	broad.mit.edu	37	15	70972014	70972014	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:70972014C>T	ENST00000322954.6	-	10	1009	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	UACA_ENST00000560441.1_Splice_Site_p.R262Q|UACA_ENST00000539319.1_Splice_Site_p.R166Q|UACA_ENST00000379983.2_Splice_Site_p.R262Q|UACA_ENST00000559183.1_5'Flank	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	275					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R262Q(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTCAAATTTCGCTTTGGTAA	0.338																																					p.R275Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	15						.						109.0	97.0	101.0					15																	70972014		2199	4297	6496	68759068	SO:0001630	splice_region_variant	55075	exon10			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.823-1G>A	15.37:g.70972014C>T			68759068	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655924	0.88056	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.70516	1.33;1.33;-0.49	5.94	5.94	0.96194	.	0.134487	0.34133	N	0.004222	T	0.79953	0.4535	L	0.60455	1.87	0.41483	D	0.988177	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;P;P;D	0.66196	0.942;0.876;0.876;0.921	T	0.74487	-0.3649	10	0.20046	T	0.44	-13.5456	17.0928	0.86627	0.0:1.0:0.0:0.0	.	166;275;275;262	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	Q	275;262;262;166	ENSP00000314556:R275Q;ENSP00000369319:R262Q;ENSP00000438667:R166Q	ENSP00000314556:R275Q	R	-	2	0	UACA	68759068	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	3.838000	0.55828	2.820000	0.97059	0.650000	0.86243	CGA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		Missense_Mutation
LARP6	55323	broad.mit.edu	37	15	71124895	71124895	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:71124895G>A	ENST00000299213.8	-	3	1042	c.972C>T	c.(970-972)gtC>gtT	p.V324V	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	324					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V324V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGCTCCTCGACTCTCTTGT	0.557																																					p.V324V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C972T	15						.						152.0	143.0	146.0					15																	71124895		2199	4297	6496	68911949	SO:0001819	synonymous_variant	55323	exon3			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.972C>T	15.37:g.71124895G>A			68911949	NM_018357	Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	CCDS32281.1																																																																																				0.557	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357	
LARP6	55323	broad.mit.edu	37	15	71125078	71125078	+	Silent	SNP	G	G	A	rs371562863		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:71125078G>A	ENST00000299213.8	-	3	859	c.789C>T	c.(787-789)ttC>ttT	p.F263F	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	263	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F263F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CCACCTCCTCGAACTCCACGA	0.562																																					p.F263F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789T	15						.	G		0,4398		0,0,2199	78.0	70.0	73.0		789	-3.5	1.0	15		73	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	LARP6	NM_018357.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		263/492	71125078	1,12991	2199	4297	6496	68912132	SO:0001819	synonymous_variant	55323	exon3			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.789C>T	15.37:g.71125078G>A			68912132	NM_018357	Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	CCDS32281.1																																																																																				0.562	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357	
THSD4	79875	broad.mit.edu	37	15	71952907	71952907	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:71952907C>T	ENST00000355327.3	+	8	1325	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	THSD4_ENST00000357769.4_Silent_p.V37V|THSD4_ENST00000261862.6_Silent_p.V397V|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	397					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.V397V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGACAAAGTCGTGGACAAAT	0.522																																					p.V397V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1191T	15						.						176.0	179.0	178.0					15																	71952907		1985	4173	6158	69739961	SO:0001819	synonymous_variant	79875	exon7			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1191C>T	15.37:g.71952907C>T			69739961	NM_024817	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817	
MYO9A	4649	broad.mit.edu	37	15	72191239	72191239	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72191239C>A	ENST00000356056.5	-	25	4077	c.3605G>T	c.(3604-3606)aGa>aTa	p.R1202I	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1183I|MYO9A_ENST00000566885.1_Missense_Mutation_p.R822I|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1202I|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1202I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1202	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R1202I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCTTTTATTCTGTTGTCAAA	0.413																																					p.R1202I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3605T	15						.						155.0	153.0	154.0					15																	72191239		2199	4297	6496	69978293	SO:0001583	missense	4649	exon25			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3605G>T	15.37:g.72191239C>A	ENSP00000348349:p.Arg1202Ile		69978293	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693840	0.68386	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85861	-2.04;-2.03;-2.03	4.91	4.91	0.64330	.	.	.	.	.	D	0.83769	0.5326	N	0.24115	0.695	0.54753	D	0.999988	D;B	0.62365	0.991;0.028	P;B	0.54706	0.759;0.007	D	0.84299	0.0504	9	0.39692	T	0.17	.	16.3	0.82806	0.0:1.0:0.0:0.0	.	1183;1202	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	I	1202;1202;1183	ENSP00000348349:R1202I;ENSP00000399162:R1202I;ENSP00000398250:R1183I	ENSP00000348349:R1202I	R	-	2	0	MYO9A	69978293	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.696000	0.54757	2.277000	0.76020	0.585000	0.79938	AGA		0.413	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72195370	72195370	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72195370C>T	ENST00000356056.5	-	22	3384	c.2912G>A	c.(2911-2913)cGa>cAa	p.R971Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R952Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R591Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R971Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.R971Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	971	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R971Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATAATATTTCGGGGAAGAAG	0.279																																					p.R971Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2912A	15						.						46.0	52.0	50.0					15																	72195370		2194	4282	6476	69982424	SO:0001583	missense	4649	exon22			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2912G>A	15.37:g.72195370C>T	ENSP00000348349:p.Arg971Gln		69982424	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017915	0.35606	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.86865	-2.18;-2.18;-2.18	5.8	2.77	0.32553	Myosin head, motor domain (2);	.	.	.	.	T	0.77054	0.4074	N	0.20986	0.625	0.21675	N	0.999599	B;B;B	0.15473	0.008;0.013;0.006	B;B;B	0.13407	0.007;0.009;0.009	T	0.62353	-0.6872	9	0.34782	T	0.22	.	7.6036	0.28089	0.0:0.4937:0.0:0.5063	.	952;952;971	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	971;971;952;952	ENSP00000348349:R971Q;ENSP00000399162:R971Q;ENSP00000398250:R952Q	ENSP00000261864:R952Q	R	-	2	0	MYO9A	69982424	0.881000	0.30235	1.000000	0.80357	0.736000	0.42039	0.531000	0.23052	0.306000	0.22856	-0.345000	0.07892	CGA		0.279	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72227743	72227743	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72227743C>A	ENST00000356056.5	-	17	2933	c.2461G>T	c.(2461-2463)Gat>Tat	p.D821Y	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D802Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.D441Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.D821Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.D821Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	821	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.D821Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATATTCCATCTTTATCAAGC	0.373																																					p.D821Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2461T	15						.						97.0	98.0	98.0					15																	72227743		2199	4297	6496	70014797	SO:0001583	missense	4649	exon17			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2461G>T	15.37:g.72227743C>A	ENSP00000348349:p.Asp821Tyr		70014797	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913023	0.72983	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.86097	-2.07;-2.05;-2.06	4.39	4.39	0.52855	Myosin head, motor domain (1);	.	.	.	.	D	0.87613	0.6221	L	0.36672	1.1	0.48632	D	0.999687	D;D;D	0.89917	1.0;0.969;0.997	D;P;D	0.74348	0.983;0.66;0.979	D	0.86646	0.1895	9	0.38643	T	0.18	.	13.9907	0.64364	0.0:1.0:0.0:0.0	.	802;802;821	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Y	821;821;802;802	ENSP00000348349:D821Y;ENSP00000399162:D821Y;ENSP00000398250:D802Y	ENSP00000261864:D802Y	D	-	1	0	MYO9A	70014797	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.640000	0.67875	2.281000	0.76405	0.585000	0.79938	GAT		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72231198	72231198	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72231198G>T	ENST00000356056.5	-	16	2845	c.2373C>A	c.(2371-2373)aaC>aaA	p.N791K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.N772K|MYO9A_ENST00000566885.1_Missense_Mutation_p.N411K|MYO9A_ENST00000424560.1_Missense_Mutation_p.N791K|MYO9A_ENST00000564571.1_Missense_Mutation_p.N791K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	791	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.N791K(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTACTGTTGGTTTTTTTCAT	0.308																																					p.N791K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2373A	15						.						70.0	71.0	71.0					15																	72231198		2199	4296	6495	70018252	SO:0001583	missense	4649	exon16			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2373C>A	15.37:g.72231198G>T	ENSP00000348349:p.Asn791Lys		70018252	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204506	0.38905	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.83837	-1.77;-1.76;-1.76	5.1	2.5	0.30297	Myosin head, motor domain (1);	.	.	.	.	T	0.68201	0.2975	L	0.40543	1.245	0.30382	N	0.781887	P;B;B	0.35226	0.491;0.003;0.013	B;B;B	0.29862	0.108;0.004;0.017	T	0.59705	-0.7404	9	0.06625	T	0.88	.	6.7375	0.23417	0.2879:0.0:0.7121:0.0	.	772;772;791	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	K	791;791;772;772	ENSP00000348349:N791K;ENSP00000399162:N791K;ENSP00000398250:N772K	ENSP00000261864:N772K	N	-	3	2	MYO9A	70018252	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.550000	0.23345	0.255000	0.21593	0.484000	0.47621	AAC		0.308	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
GRAMD2	196996	broad.mit.edu	37	15	72461298	72461298	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72461298C>A	ENST00000309731.7	-	3	187	c.174G>T	c.(172-174)aaG>aaT	p.K58N	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	58						integral component of membrane (GO:0016021)		p.K58N(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGCCACACTTCTTTATCTCTT	0.537																																					p.K58N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G174T	15						.						151.0	124.0	133.0					15																	72461298		2199	4297	6496	70248352	SO:0001583	missense	196996	exon3			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.174G>T	15.37:g.72461298C>A	ENSP00000311657:p.Lys58Asn		70248352	NM_001012642	B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509472	0.64522	.	.	ENSG00000175318	ENST00000309731	T	0.37058	1.22	5.41	4.49	0.54785	.	0.126753	0.51477	D	0.000087	T	0.55178	0.1904	M	0.70275	2.135	0.42256	D	0.991994	D	0.89917	1.0	D	0.87578	0.998	T	0.53585	-0.8418	10	0.26408	T	0.33	.	11.2951	0.49274	0.0:0.9137:0.0:0.0863	.	58	Q8IUY3	GRAM2_HUMAN	N	58	ENSP00000311657:K58N	ENSP00000311657:K58N	K	-	3	2	GRAMD2	70248352	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	2.481000	0.45215	1.276000	0.44395	0.561000	0.74099	AAG		0.537	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	
PKM	5315	broad.mit.edu	37	15	72500985	72500985	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72500985G>A	ENST00000335181.5	-	6	916	c.813C>T	c.(811-813)atC>atT	p.I271I	PKM_ENST00000568459.1_Silent_p.I271I|PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000565154.1_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000449901.2_Silent_p.I256I|PKM_ENST00000319622.6_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	271					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.I271I(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CATGATTCTCGATTTTGCTGA	0.512																																					p.I271I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	15						.						181.0	155.0	164.0					15																	72500985		2199	4297	6496	70288039	SO:0001819	synonymous_variant	5315	exon6			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.813C>T	15.37:g.72500985G>A			70288039	NM_002654	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	CCDS32284.1																																																																																				0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1		
TMEM202	338949	broad.mit.edu	37	15	72699485	72699485	+	Silent	SNP	G	G	A	rs113026067		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72699485G>A	ENST00000341689.3	+	4	600	c.546G>A	c.(544-546)agG>agA	p.R182R	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	182						integral component of membrane (GO:0016021)		p.R182R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGCATACTAGGGATGCCATGG	0.483																																					p.R182R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G546A	15						.						202.0	169.0	180.0					15																	72699485		2199	4297	6496	70486539	SO:0001819	synonymous_variant	338949	exon4				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.546G>A	15.37:g.72699485G>A			70486539	NM_001080462		Silent	SNP	ENST00000341689.3	37	CCDS32287.1																																																																																				0.483	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
ARIH1	25820	broad.mit.edu	37	15	72847642	72847642	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72847642T>C	ENST00000379887.4	+	4	933	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	207	Interaction with UBE2L3.				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F207L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TGGACATAAGTTTTGTATGCA	0.328																																					p.F207L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T619C	15						.						138.0	132.0	134.0					15																	72847642		2198	4297	6495	70634696	SO:0001583	missense	25820	exon4			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.619T>C	15.37:g.72847642T>C	ENSP00000369217:p.Phe207Leu		70634696	NM_005744	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184411	0.94885	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.85484	-1.99	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.93380	0.7889	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.94438	0.7656	10	0.62326	D	0.03	.	15.3032	0.73972	0.0:0.0:0.0:1.0	.	207	Q9Y4X5	ARI1_HUMAN	L	207;177	ENSP00000369217:F207L	ENSP00000299305:F177L	F	+	1	0	ARIH1	70634696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.555000	0.82223	2.154000	0.67381	0.477000	0.44152	TTT		0.328	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744	
ARIH1	25820	broad.mit.edu	37	15	72853877	72853877	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:72853877A>C	ENST00000379887.4	+	6	1105	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	264					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N264T(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTAATAACAAATAGCTTTGTA	0.264																																					p.N264T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791C	15						.						38.0	42.0	41.0					15																	72853877		2195	4290	6485	70640931	SO:0001583	missense	25820	exon6			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.791A>C	15.37:g.72853877A>C	ENSP00000369217:p.Asn264Thr		70640931	NM_005744	B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377685	0.82682	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.81247	-1.47	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	M	0.82056	2.57	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.90875	0.4749	10	0.66056	D	0.02	.	15.624	0.76833	1.0:0.0:0.0:0.0	.	264	Q9Y4X5	ARI1_HUMAN	T	264;234	ENSP00000369217:N264T	ENSP00000299305:N234T	N	+	2	0	ARIH1	70640931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.908000	0.92640	2.232000	0.73038	0.528000	0.53228	AAT		0.264	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744	
NEO1	4756	broad.mit.edu	37	15	73542048	73542048	+	Missense_Mutation	SNP	G	G	A	rs368526754		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:73542048G>A	ENST00000339362.5	+	12	2327	c.1880G>A	c.(1879-1881)cGa>cAa	p.R627Q	NEO1_ENST00000261908.6_Missense_Mutation_p.R627Q|NEO1_ENST00000560262.1_Missense_Mutation_p.R627Q|NEO1_ENST00000558964.1_Missense_Mutation_p.R627Q			Q92859	NEO1_HUMAN	neogenin 1	627	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R627Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTTGCTGTTCGAACATTGTCA	0.418																																					p.R627Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1880A	15						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	178.0	163.0	168.0		1880,1880,1880	3.8	0.9	15		168	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	NEO1	NM_001172623.1,NM_001172624.1,NM_002499.3	43,43,43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	627/1409,627/1451,627/1462	73542048	1,12989	2198	4297	6495	71329101	SO:0001583	missense	4756	exon11			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1880G>A	15.37:g.73542048G>A	ENSP00000341198:p.Arg627Gln		71329101	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226281	0.79576	0.0	1.16E-4	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.55588	0.51;0.51	5.79	3.85	0.44370	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.113255	0.64402	N	0.000011	T	0.69296	0.3095	M	0.78285	2.405	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.965;0.999	D;D;P;D	0.81914	0.995;0.965;0.466;0.936	T	0.67118	-0.5751	10	0.32370	T	0.25	-2.1478	11.3043	0.49325	0.1549:0.0:0.8451:0.0	.	627;627;365;627	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	Q	627;365;627	ENSP00000341198:R627Q;ENSP00000261908:R627Q	ENSP00000261908:R627Q	R	+	2	0	NEO1	71329101	0.999000	0.42202	0.943000	0.38184	0.773000	0.43773	3.250000	0.51445	0.720000	0.32209	-0.345000	0.07892	CGA		0.418	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
NEO1	4756	broad.mit.edu	37	15	73547130	73547130	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:73547130G>T	ENST00000339362.5	+	14	2499	c.2052G>T	c.(2050-2052)gaG>gaT	p.E684D	RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000261908.6_Missense_Mutation_p.E684D|NEO1_ENST00000560262.1_Missense_Mutation_p.E684D|NEO1_ENST00000558964.1_Missense_Mutation_p.E684D			Q92859	NEO1_HUMAN	neogenin 1	684	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E684D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATGTCACTGAGACCTTGGTAA	0.488																																					p.E684D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2052T	15						.						134.0	126.0	129.0					15																	73547130		2198	4297	6495	71334183	SO:0001583	missense	4756	exon13			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2052G>T	15.37:g.73547130G>T	ENSP00000341198:p.Glu684Asp		71334183	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.530950	0.45073	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.60171	0.21;0.21	5.23	2.13	0.27403	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.154925	0.56097	D	0.000035	T	0.47192	0.1432	L	0.53561	1.675	0.43907	D	0.996544	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.002;0.001;0.004	T	0.27262	-1.0079	10	0.20519	T	0.43	-16.7301	9.3996	0.38424	0.2483:0.0:0.7517:0.0	.	684;684;422;684	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	D	684;422;684	ENSP00000341198:E684D;ENSP00000261908:E684D	ENSP00000261908:E684D	E	+	3	2	NEO1	71334183	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	2.531000	0.45650	0.145000	0.18977	-0.140000	0.14226	GAG		0.488	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
HCN4	10021	broad.mit.edu	37	15	73616567	73616567	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:73616567C>T	ENST00000261917.3	-	7	2999	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	669					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R669H(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCTGGCTGTGCGCCGGCCCCG	0.652																																					p.R669H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2006A	15						.						55.0	46.0	49.0					15																	73616567		2198	4297	6495	71403620	SO:0001583	missense	10021	exon7			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2006G>A	15.37:g.73616567C>T	ENSP00000261917:p.Arg669His		71403620	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876729	0.51801	.	.	ENSG00000138622	ENST00000261917	D	0.97994	-4.65	3.46	3.46	0.39613	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.98905	0.9629	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99544	1.0964	9	0.87932	D	0	.	15.125	0.72475	0.0:1.0:0.0:0.0	.	669	Q9Y3Q4	HCN4_HUMAN	H	669	ENSP00000261917:R669H	ENSP00000261917:R669H	R	-	2	0	HCN4	71403620	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.109000	0.77062	1.761000	0.52028	0.313000	0.20887	CGC		0.652	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
HCN4	10021	broad.mit.edu	37	15	73617477	73617477	+	Silent	SNP	C	C	T	rs371484779		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:73617477C>T	ENST00000261917.3	-	6	2790	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	599					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A599A(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGTTGGGGTCCGCATTGGCAA	0.567																																					p.A599A												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G1797A	15						.	C		0,4396		0,0,2198	138.0	122.0	128.0		1797	-5.8	0.9	15		128	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	HCN4	NM_005477.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		599/1204	73617477	1,12989	2198	4297	6495	71404530	SO:0001819	synonymous_variant	10021	exon6			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1797G>A	15.37:g.73617477C>T			71404530	NM_005477	Q9UMQ7	Silent	SNP	ENST00000261917.3	37	CCDS10248.1																																																																																				0.567	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
ARID3B	10620	broad.mit.edu	37	15	74884147	74884147	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:74884147A>G	ENST00000346246.5	+	7	1643	c.1412A>G	c.(1411-1413)aAc>aGc	p.N471S		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	471	REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.N471S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ATCAGGATCAACGGCAGGGGT	0.647																																					p.N471S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1412G	15						.						43.0	45.0	44.0					15																	74884147		2196	4296	6492	72671200	SO:0001583	missense	10620	exon7				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1412A>G	15.37:g.74884147A>G	ENSP00000343126:p.Asn471Ser		72671200	NM_006465	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579787	0.65992	.	.	ENSG00000179361	ENST00000346246	T	0.46819	0.86	5.31	4.16	0.48862	REKLES domain (1);	0.865322	0.10510	N	0.666291	T	0.48572	0.1507	L	0.54323	1.7	0.48571	D	0.99967	P;P	0.48294	0.908;0.808	B;B	0.43990	0.368;0.438	T	0.31392	-0.9945	10	0.44086	T	0.13	-18.0906	12.335	0.55062	0.8585:0.1415:0.0:0.0	.	471;471	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	S	471	ENSP00000343126:N471S	ENSP00000343126:N471S	N	+	2	0	ARID3B	72671200	0.535000	0.26370	0.923000	0.36655	0.937000	0.57800	1.331000	0.33793	0.833000	0.34828	0.533000	0.62120	AAC		0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465	
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75122677G>T	ENST00000395018.4	+	3	616	c.459G>T	c.(457-459)gaG>gaT	p.E153D	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	153					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)	p.E153D(1)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592																																					p.E153D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459T	15						.						57.0	44.0	48.0					15																	75122677		2197	4295	6492	72909730	SO:0001583	missense	594855	exon3			BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.459G>T	15.37:g.75122677G>T	ENSP00000378464:p.Glu153Asp		72909730	NM_001030005	D3DW66|Q8TEM6|Q9H818	Missense_Mutation	SNP	ENST00000395018.4	37	CCDS32294.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595819	0.66332	.	.	ENSG00000213578	ENST00000395018	.	.	.	5.38	0.748	0.18376	.	0.000000	0.64402	U	0.000001	T	0.49064	0.1535	M	0.73217	2.22	0.38509	D	0.948414	P	0.38473	0.633	B	0.32805	0.153	T	0.52457	-0.8573	9	0.62326	D	0.03	-23.0994	8.3794	0.32461	0.2243:0.1168:0.6589:0.0	.	153	Q8WVH0	CPLX3_HUMAN	D	153	.	ENSP00000378464:E153D	E	+	3	2	CPLX3	72909730	0.998000	0.40836	1.000000	0.80357	0.830000	0.47004	0.376000	0.20535	0.253000	0.21552	-0.150000	0.13652	GAG		0.592	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005	
C15orf39	56905	broad.mit.edu	37	15	75499573	75499573	+	Missense_Mutation	SNP	G	G	A	rs375288255		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75499573G>A	ENST00000360639.2	+	2	1504	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	C15orf39_ENST00000567617.1_Missense_Mutation_p.G395E|C15orf39_ENST00000394987.4_Missense_Mutation_p.G395E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	395						cytoplasm (GO:0005737)		p.G395E(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGGGCTTGGAGGGACACCA	0.612																																					p.G395E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184A	15						.						84.0	88.0	87.0					15																	75499573		2197	4295	6492	73286626	SO:0001583	missense	56905	exon2			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1184G>A	15.37:g.75499573G>A	ENSP00000353854:p.Gly395Glu		73286626	NM_015492	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833603	0.32421	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.71341	-0.56;-0.56	4.57	2.5	0.30297	.	0.385458	0.22518	N	0.059005	T	0.65554	0.2702	M	0.62723	1.935	0.09310	N	1	P	0.51351	0.944	P	0.47470	0.548	T	0.58736	-0.7584	10	0.05833	T	0.94	-1.5525	10.3087	0.43695	0.0:0.4402:0.5598:0.0	.	395	Q6ZRI6	CO039_HUMAN	E	395	ENSP00000353854:G395E;ENSP00000378438:G395E	ENSP00000353854:G395E	G	+	2	0	C15orf39	73286626	0.725000	0.28048	0.082000	0.20525	0.970000	0.65996	1.118000	0.31246	0.893000	0.36288	0.462000	0.41574	GGA		0.612	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
SIN3A	25942	broad.mit.edu	37	15	75664549	75664549	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75664549G>A	ENST00000394947.3	-	21	3907	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	SIN3A_ENST00000360439.4_Splice_Site_p.S1198F|RP11-817O13.8_ENST00000563278.1_lincRNA|SIN3A_ENST00000394949.4_Splice_Site_p.S1198F	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.S1198F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ACGCTCATGGGACTGCAAAAC	0.423																																					p.S1198F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3593T	15						.						80.0	79.0	79.0					15																	75664549		2197	4294	6491	73451602	SO:0001630	splice_region_variant	25942	exon21			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3592-1C>T	15.37:g.75664549G>A			73451602	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880913	0.72294	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49139	0.79;0.79;0.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.78049	2.395	0.80722	D	1	D	0.59357	0.985	D	0.64237	0.923	T	0.72308	-0.4332	10	0.59425	D	0.04	-12.776	17.6425	0.88140	0.0:0.0:1.0:0.0	.	1198	Q96ST3	SIN3A_HUMAN	F	1198	ENSP00000378402:S1198F;ENSP00000378403:S1198F;ENSP00000353622:S1198F	ENSP00000353622:S1198F	S	-	2	0	SIN3A	73451602	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.768000	0.98965	2.415000	0.81967	0.484000	0.47621	TCC		0.423	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	Missense_Mutation
SIN3A	25942	broad.mit.edu	37	15	75685053	75685053	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75685053A>C	ENST00000394947.3	-	15	2695	c.2381T>G	c.(2380-2382)aTt>aGt	p.I794S	SIN3A_ENST00000360439.4_Missense_Mutation_p.I794S|SIN3A_ENST00000394949.4_Missense_Mutation_p.I794S	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.I794S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATGGTGGATAATCAGAGCAGC	0.443																																					p.I794S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2381G	15						.						159.0	147.0	151.0					15																	75685053		2197	4294	6491	73472106	SO:0001583	missense	25942	exon15			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2381T>G	15.37:g.75685053A>C	ENSP00000378402:p.Ile794Ser		73472106	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532861	0.85812	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.52526	0.66;0.66;0.66	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.78285	2.405	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.71328	-0.4626	10	0.56958	D	0.05	-17.571	15.3114	0.74035	1.0:0.0:0.0:0.0	.	794	Q96ST3	SIN3A_HUMAN	S	794	ENSP00000378402:I794S;ENSP00000378403:I794S;ENSP00000353622:I794S	ENSP00000353622:I794S	I	-	2	0	SIN3A	73472106	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.302000	0.96175	2.218000	0.71995	0.533000	0.62120	ATT		0.443	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75693169	75693169	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75693169C>A	ENST00000394947.3	-	11	1953	c.1639G>T	c.(1639-1641)Gat>Tat	p.D547Y	SIN3A_ENST00000360439.4_Missense_Mutation_p.D547Y|SIN3A_ENST00000394949.4_Missense_Mutation_p.D547Y	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.D547Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAAGCATAATCTATCTCCATA	0.448																																					p.D547Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1639T	15						.						121.0	106.0	111.0					15																	75693169		2197	4294	6491	73480222	SO:0001583	missense	25942	exon11			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1639G>T	15.37:g.75693169C>A	ENSP00000378402:p.Asp547Tyr		73480222	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969278	0.92855	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.57436	0.4;0.4;0.4	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85820	0.1385	10	0.87932	D	0	-27.1386	19.2838	0.94063	0.0:1.0:0.0:0.0	.	547	Q96ST3	SIN3A_HUMAN	Y	547	ENSP00000378402:D547Y;ENSP00000378403:D547Y;ENSP00000353622:D547Y	ENSP00000353622:D547Y	D	-	1	0	SIN3A	73480222	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.817000	0.86213	2.805000	0.96524	0.460000	0.39030	GAT		0.448	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75699483	75699483	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75699483C>A	ENST00000394947.3	-	9	1634	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	SIN3A_ENST00000360439.4_Missense_Mutation_p.K440N|SIN3A_ENST00000394949.4_Missense_Mutation_p.K440N	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.K440N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GTTTGGGTTTCTTCTGCAAAA	0.373																																					p.K440N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1320T	15						.						96.0	89.0	91.0					15																	75699483		2197	4294	6491	73486536	SO:0001583	missense	25942	exon9			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1320G>T	15.37:g.75699483C>A	ENSP00000378402:p.Lys440Asn		73486536	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179049	0.78564	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.51071	0.72;0.72;0.72	5.29	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68637	-0.5356	10	0.48119	T	0.1	-25.5475	12.0593	0.53555	0.0:0.9164:0.0:0.0836	.	440	Q96ST3	SIN3A_HUMAN	N	440	ENSP00000378402:K440N;ENSP00000378403:K440N;ENSP00000353622:K440N	ENSP00000353622:K440N	K	-	3	2	SIN3A	73486536	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.448000	0.44926	1.205000	0.43262	0.563000	0.77884	AAG		0.373	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75703963	75703963	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75703963G>A	ENST00000394947.3	-	6	1192	c.878C>T	c.(877-879)gCc>gTc	p.A293V	SIN3A_ENST00000360439.4_Missense_Mutation_p.A293V|SIN3A_ENST00000394949.4_Missense_Mutation_p.A293V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.A293V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAAGGATGGGGCCGTTCCCAA	0.512																																					p.A293V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C878T	15						.						207.0	194.0	198.0					15																	75703963		2197	4294	6491	73491016	SO:0001583	missense	25942	exon6			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.878C>T	15.37:g.75703963G>A	ENSP00000378402:p.Ala293Val		73491016	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300594	0.60195	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49139	0.79;0.79;0.79	6.06	5.13	0.70059	.	0.293955	0.37623	N	0.002003	T	0.33469	0.0864	N	0.17474	0.49	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.06285	-1.0835	10	0.24483	T	0.36	-16.0968	16.371	0.83361	0.0:0.1318:0.8682:0.0	.	293	Q96ST3	SIN3A_HUMAN	V	293	ENSP00000378402:A293V;ENSP00000378403:A293V;ENSP00000353622:A293V	ENSP00000353622:A293V	A	-	2	0	SIN3A	73491016	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.470000	0.66756	1.517000	0.48917	0.655000	0.94253	GCC		0.512	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75706569	75706569	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75706569G>T	ENST00000394947.3	-	4	764	c.450C>A	c.(448-450)atC>atA	p.I150I	SIN3A_ENST00000360439.4_Silent_p.I150I|SIN3A_ENST00000394949.4_Silent_p.I150I	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.I150I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATTCCTTCATGATGTCAAGGA	0.398																																					p.I150I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450A	15						.						110.0	93.0	99.0					15																	75706569		2197	4294	6491	73493622	SO:0001819	synonymous_variant	25942	exon4			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.450C>A	15.37:g.75706569G>T			73493622	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.398	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SIN3A	25942	broad.mit.edu	37	15	75715110	75715110	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75715110G>T	ENST00000394947.3	-	3	558	c.244C>A	c.(244-246)Cat>Aat	p.H82N	SIN3A_ENST00000567289.1_Missense_Mutation_p.H82N|SIN3A_ENST00000360439.4_Missense_Mutation_p.H82N|SIN3A_ENST00000394949.4_Missense_Mutation_p.H82N	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.H82N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGGCTGCTATGAACTGCTGCT	0.567																																					p.H82N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244A	15						.						102.0	97.0	99.0					15																	75715110		2197	4294	6491	73502163	SO:0001583	missense	25942	exon3			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.244C>A	15.37:g.75715110G>T	ENSP00000378402:p.His82Asn		73502163	NM_001145358		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090380	0.55968	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.43688	0.94;0.94;0.94	5.2	5.2	0.72013	.	0.089556	0.85682	D	0.000000	T	0.39384	0.1076	L	0.50333	1.59	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	T	0.14282	-1.0478	10	0.22109	T	0.4	-24.5746	17.4692	0.87641	0.0:0.0:1.0:0.0	.	82	Q96ST3	SIN3A_HUMAN	N	82	ENSP00000378402:H82N;ENSP00000378403:H82N;ENSP00000353622:H82N	ENSP00000353622:H82N	H	-	1	0	SIN3A	73502163	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	9.065000	0.93941	2.706000	0.92434	0.467000	0.42956	CAT		0.567	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
PTPN9	5780	broad.mit.edu	37	15	75798053	75798053	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75798053G>A	ENST00000306726.2	-	7	1443	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	311	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.R311C(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCACGACGAATGTCTTCA	0.473																																					p.R311C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931T	15						.						156.0	140.0	146.0					15																	75798053		2197	4294	6491	73585108	SO:0001583	missense	5780	exon7				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.931C>T	15.37:g.75798053G>A	ENSP00000303554:p.Arg311Cys		73585108	NM_002833	Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950099	0.53186	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.14022	2.54	5.61	4.7	0.59300	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.107752	0.64402	N	0.000007	T	0.14874	0.0359	M	0.78456	2.415	0.80722	D	1	P	0.36587	0.559	B	0.25759	0.063	T	0.02966	-1.1088	10	0.54805	T	0.06	.	8.5169	0.33250	0.0767:0.0:0.7712:0.1521	.	311	P43378	PTN9_HUMAN	C	311;301	ENSP00000303554:R311C	ENSP00000303554:R311C	R	-	1	0	PTPN9	73585108	1.000000	0.71417	0.671000	0.29857	0.971000	0.66376	4.866000	0.63005	1.400000	0.46741	0.650000	0.86243	CGT		0.473	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1		
SNUPN	10073	broad.mit.edu	37	15	75893520	75893520	+	Missense_Mutation	SNP	C	C	T	rs142962123		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:75893520C>T	ENST00000564644.1	-	9	1296	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	SNUPN_ENST00000308588.5_Missense_Mutation_p.E240K|SNUPN_ENST00000567134.1_Missense_Mutation_p.E240K|SNUPN_ENST00000371091.5_Missense_Mutation_p.E282K|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564675.1_Missense_Mutation_p.E240K			O95149	SPN1_HUMAN	snurportin 1	240	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)	p.E240K(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CACAGGCTTTCGGGAGTGCAA	0.393																																					p.E240K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G718A	15						.	C	LYS/GLU,LYS/GLU,LYS/GLU	0,4394		0,0,2197	137.0	122.0	127.0		718,718,718	4.8	1.0	15	dbSNP_134	127	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense	SNUPN	NM_001042581.1,NM_001042588.1,NM_005701.3	56,56,56	0,1,6490	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	240/361,240/361,240/361	75893520	1,12981	2197	4294	6491	73680575	SO:0001583	missense	10073	exon8			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.718G>A	15.37:g.75893520C>T	ENSP00000454852:p.Glu240Lys		73680575	NM_001042581	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561446	0.45590	0.0	1.16E-4	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.68	4.77	0.60923	.	0.100752	0.64402	N	0.000002	T	0.58764	0.2145	M	0.73962	2.25	0.58432	D	0.999992	B;B	0.19583	0.037;0.012	B;B	0.15870	0.014;0.004	T	0.56092	-0.8036	9	0.31617	T	0.26	-25.8184	9.0403	0.36314	0.1455:0.7806:0.0:0.0738	.	282;240	C9K0X5;O95149	.;SPN1_HUMAN	K	240;282	.	ENSP00000309831:E240K	E	-	1	0	SNUPN	73680575	0.995000	0.38212	0.983000	0.44433	0.682000	0.39822	2.555000	0.45854	1.433000	0.47394	-0.232000	0.12228	GAA		0.393	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701	
FBXO22	26263	broad.mit.edu	37	15	76206460	76206460	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:76206460G>T	ENST00000308275.3	+	4	482	c.377G>T	c.(376-378)aGa>aTa	p.R126I	FBXO22_ENST00000540507.1_Missense_Mutation_p.R22I|FBXO22_ENST00000453211.2_Missense_Mutation_p.R126I	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	126					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.R126I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAAGGAAAAGAACTAGTATG	0.348																																					p.R126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377T	15						.						102.0	92.0	95.0					15																	76206460		2197	4294	6491	73993515	SO:0001583	missense	26263	exon4			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.377G>T	15.37:g.76206460G>T	ENSP00000307833:p.Arg126Ile		73993515	NM_147188	Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215152	0.79352	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.44	4.52	0.55395	.	0.163210	0.53938	D	0.000041	T	0.54615	0.1869	L	0.29908	0.895	0.80722	D	1	D;D	0.60160	0.987;0.971	P;P	0.58454	0.809;0.839	T	0.58002	-0.7713	9	0.72032	D	0.01	-17.2245	11.0456	0.47857	0.0868:0.0:0.9132:0.0	.	126;126	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	I	126;126;22	.	ENSP00000307833:R126I	R	+	2	0	FBXO22	73993515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.264000	0.43302	1.289000	0.44618	0.650000	0.86243	AGA		0.348	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188	
ETFA	2108	broad.mit.edu	37	15	76518260	76518260	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:76518260G>A	ENST00000557943.1	-	11	973	c.893C>T	c.(892-894)gCa>gTa	p.A298V	ETFA_ENST00000559602.1_Missense_Mutation_p.A194V|ETFA_ENST00000433983.2_Missense_Mutation_p.A249V|ETFA_ENST00000560726.1_Missense_Mutation_p.A38V	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	298	Domain II. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.A298V(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTTATTAATTGCCACAATTGT	0.313																																					p.A249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	15						.						94.0	105.0	101.0					15																	76518260		2197	4294	6491	74305315	SO:0001583	missense	2108	exon10			J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.893C>T	15.37:g.76518260G>A	ENSP00000452762:p.Ala298Val		74305315	NM_001127716	B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253545	0.95336	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.94966	-3.57	5.56	5.56	0.83823	Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.944;0.951	D	0.97924	1.0316	10	0.87932	D	0	-14.5431	18.5116	0.90918	0.0:0.0:1.0:0.0	.	249;298	B4DT43;P13804	.;ETFA_HUMAN	V	249;298	ENSP00000399273:A249V	ENSP00000267950:A298V	A	-	2	0	ETFA	74305315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.631000	0.90991	2.602000	0.87976	0.563000	0.77884	GCA		0.313	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126	
SCAPER	49855	broad.mit.edu	37	15	76643614	76643614	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:76643614G>T	ENST00000563290.1	-	31	4158	c.4063C>A	c.(4063-4065)Cca>Aca	p.P1355T	SCAPER_ENST00000538941.2_Missense_Mutation_p.P1109T|SCAPER_ENST00000324767.7_Missense_Mutation_p.P1355T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1355						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P1355T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTGACCTGGAGTCTGTGCC	0.373																																					p.P1109T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3325A	15						.						108.0	101.0	103.0					15																	76643614		1844	4084	5928	74430669	SO:0001583	missense	49855	exon31			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.4063C>A	15.37:g.76643614G>T	ENSP00000454973:p.Pro1355Thr		74430669	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998787	0.19121	.	.	ENSG00000140386	ENST00000324767;ENST00000538941	T;T	0.21543	2.01;2.0	5.76	1.73	0.24493	.	0.636831	0.17075	N	0.188039	T	0.14184	0.0343	L	0.40543	1.245	0.20074	N	0.999937	B;B	0.18166	0.025;0.026	B;B	0.17722	0.008;0.019	T	0.27502	-1.0072	10	0.25106	T	0.35	.	5.3293	0.15924	0.3156:0.1373:0.5472:0.0	.	1354;1109	Q9BY12;F5H7X8	SCAPE_HUMAN;.	T	1355;1109	ENSP00000326924:P1355T;ENSP00000442190:P1109T	ENSP00000326924:P1355T	P	-	1	0	SCAPER	74430669	0.904000	0.30761	0.139000	0.22197	0.854000	0.48673	1.233000	0.32648	0.140000	0.18849	0.655000	0.94253	CCA		0.373	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
RCN2	5955	broad.mit.edu	37	15	77241413	77241413	+	Silent	SNP	G	G	A	rs17849874|rs58665121	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:77241413G>A	ENST00000394885.3	+	7	1027	c.804G>A	c.(802-804)gcG>gcA	p.A268A	RCN2_ENST00000320963.5_Silent_p.A286A|RCN2_ENST00000394883.3_Silent_p.A167A	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	268	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)	p.A268A(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						TTTTGAAGGCGCTTCATCTAA	0.358													G|||	18	0.00359425	0.0136	0.0	5008	,	,		18485	0.0		0.0	False		,,,				2504	0.0				p.A268A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G804A	15						.	G		39,4353	40.8+/-73.8	1,37,2158	107.0	120.0	115.0		804	1.0	1.0	15	dbSNP_129	115	0,8588		0,0,4294	no	coding-synonymous	RCN2	NM_002902.2		1,37,6452	AA,AG,GG		0.0,0.888,0.3005		268/318	77241413	39,12941	2196	4294	6490	75028468	SO:0001819	synonymous_variant	5955	exon7			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.804G>A	15.37:g.77241413G>A			75028468	NM_002902	A8MTG6|F8WCY5|Q53XN8	Silent	SNP	ENST00000394885.3	37	CCDS10291.1																																																																																				0.358	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902	
TSPAN3	10099	broad.mit.edu	37	15	77345214	77345214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:77345214C>A	ENST00000267970.4	-	5	763	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	TSPAN3_ENST00000558394.1_5'Flank|TSPAN3_ENST00000346495.2_Nonsense_Mutation_p.E139*|TSPAN3_ENST00000424443.3_Nonsense_Mutation_p.E100*|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000559494.1_Nonsense_Mutation_p.E75*|TSPAN3_ENST00000561277.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	164						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E164*(1)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TTTTTGGTTTCTTTGAACCAA	0.443																																					p.E100X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G298T	15						.						109.0	87.0	94.0					15																	77345214		2196	4294	6490	75132269	SO:0001587	stop_gained	10099	exon4				CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.490G>T	15.37:g.77345214C>A	ENSP00000267970:p.Glu164*		75132269	NM_001168412	A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Nonsense_Mutation	SNP	ENST00000267970.4	37	CCDS10292.1	.	.	.	.	.	.	.	.	.	.	C	37	6.093732	0.97276	.	.	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000423920;ENST00000346495	.	.	.	6.16	5.24	0.73138	.	0.045131	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	13.3349	0.60512	0.1195:0.752:0.1285:0.0	.	.	.	.	X	164;100;126;139	.	ENSP00000267970:E164X	E	-	1	0	TSPAN3	75132269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.192000	0.42649	1.606000	0.50161	0.650000	0.86243	GAA		0.443	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724	
PEAK1	79834	broad.mit.edu	37	15	77472838	77472838	+	Silent	SNP	G	G	A	rs374860881	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:77472838G>A	ENST00000560626.2	-	4	1906	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	PEAK1_ENST00000558305.1_Silent_p.V477V|PEAK1_ENST00000312493.4_Silent_p.V477V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	477					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V477V(2)									ACACATCCACGACAGTATATG	0.507													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19225	0.0		0.0	False		,,,				2504	0.0				p.V477V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1431T	15						.	A		0,4056		0,0,2028	127.0	125.0	126.0		1431	-11.1	0.0	15		126	3,8379		0,3,4188	no	coding-synonymous	PEAK1	NM_024776.3		0,3,6216	AA,AG,GG		0.0358,0.0,0.0241		477/1747	77472838	3,12435	2028	4191	6219	75259893	SO:0001819	synonymous_variant	79834	exon3				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1431C>T	15.37:g.77472838G>A			75259893	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	CCDS42062.1																																																																																				0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
PEAK1	79834	broad.mit.edu	37	15	77473361	77473361	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:77473361C>A	ENST00000560626.2	-	4	1383	c.908G>T	c.(907-909)aGa>aTa	p.R303I	PEAK1_ENST00000558305.1_Missense_Mutation_p.R303I|PEAK1_ENST00000312493.4_Missense_Mutation_p.R303I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	303					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R303I(2)									AGCACAGATTCTCTGCAGAGA	0.438																																					p.R303I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G908T	15						.						85.0	79.0	81.0					15																	77473361		1925	4127	6052	75260416	SO:0001583	missense	79834	exon3				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.908G>T	15.37:g.77473361C>A	ENSP00000452796:p.Arg303Ile		75260416	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305119	0.81247	.	.	ENSG00000173517	ENST00000312493	T	0.79554	-1.28	5.3	5.3	0.74995	.	0.000000	0.33327	U	0.005025	D	0.85699	0.5757	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.87381	0.2357	10	0.87932	D	0	-8.7377	18.9555	0.92657	0.0:1.0:0.0:0.0	.	303	Q9H792	PEAK1_HUMAN	I	303	ENSP00000309230:R303I	ENSP00000309230:R303I	R	-	2	0	AC087465.1	75260416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.469000	0.83416	0.557000	0.71058	AGA		0.438	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
LINGO1	84894	broad.mit.edu	37	15	77907976	77907976	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:77907976G>A	ENST00000355300.6	-	2	447	c.273C>T	c.(271-273)ttC>ttT	p.F91F	LINGO1_ENST00000561030.1_Silent_p.F85F	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	91					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F85F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGAAGCTGGCGAACTCGTCCT	0.637																																					p.F91F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	15						.						32.0	36.0	35.0					15																	77907976		2115	4224	6339	75695031	SO:0001819	synonymous_variant	84894	exon2			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.273C>T	15.37:g.77907976G>A			75695031	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	CCDS45313.1																																																																																				0.637	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
TBC1D2B	23102	broad.mit.edu	37	15	78322512	78322512	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78322512C>T	ENST00000300584.3	-	4	683	c.684G>A	c.(682-684)aaG>aaA	p.K228K	TBC1D2B_ENST00000409931.3_Splice_Site_p.K228K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	228							Rab GTPase activator activity (GO:0005097)	p.K228K(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ACATCGAATTCCTGTTGGGAA	0.343																																					p.K228K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G684A	15						.						46.0	41.0	42.0					15																	78322512		2196	4293	6489	76109567	SO:0001630	splice_region_variant	23102	exon4			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.684-1G>A	15.37:g.78322512C>T			76109567	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	6.486	0.457769	0.12342	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.07	0.0326	0.14176	.	.	.	.	.	T	0.57272	0.2042	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49862	-0.8894	4	.	.	.	.	9.8614	0.41116	0.0:0.3955:0.0:0.6045	.	.	.	.	K	110	.	.	R	-	2	0	TBC1D2B	76109567	0.992000	0.36948	0.929000	0.37066	0.445000	0.32107	0.097000	0.15168	-0.246000	0.09611	-0.483000	0.04790	AGA		0.343	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	Silent
IDH3A	3419	broad.mit.edu	37	15	78455867	78455867	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78455867T>G	ENST00000299518.2	+	7	713	c.630T>G	c.(628-630)ctT>ctG	p.L210L	IDH3A_ENST00000558554.1_Silent_p.L175L|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Silent_p.L101L|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	210					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.L210L(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CAGATGGGCTTTTTCTACAAA	0.299																																					p.L210L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T630G	15						.						85.0	90.0	88.0					15																	78455867		2196	4293	6489	76242922	SO:0001819	synonymous_variant	3419	exon7				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.630T>G	15.37:g.78455867T>G			76242922	NM_005530	D3DW83|Q9H3X0	Silent	SNP	ENST00000299518.2	37	CCDS10297.1																																																																																				0.299	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530	
IDH3A	3419	broad.mit.edu	37	15	78461336	78461336	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78461336G>T	ENST00000299518.2	+	11	1173	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	IDH3A_ENST00000558554.1_Missense_Mutation_p.D329Y|ACSBG1_ENST00000258873.4_3'UTR|IDH3A_ENST00000441490.2_Missense_Mutation_p.D255Y|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Missense_Mutation_p.D85Y	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	364					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.D364Y(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCGAGTAAAAGATTTAGATTA	0.373																																					p.D364Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1090T	15						.						134.0	132.0	133.0					15																	78461336		2196	4293	6489	76248391	SO:0001583	missense	3419	exon11				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.1090G>T	15.37:g.78461336G>T	ENSP00000299518:p.Asp364Tyr		76248391	NM_005530	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597550	0.87055	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.56611	0.45;0.47	6.17	6.17	0.99709	Isopropylmalate dehydrogenase-like domain (1);	0.085998	0.85682	D	0.000000	T	0.64929	0.2643	M	0.65975	2.015	0.80722	D	1	D;P;D	0.55385	0.965;0.938;0.971	P;B;P	0.50617	0.541;0.423;0.646	T	0.66260	-0.5968	10	0.72032	D	0.01	-28.6373	19.8676	0.96824	0.0:0.0:1.0:0.0	.	329;314;364	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	Y	364;255	ENSP00000299518:D364Y;ENSP00000387506:D255Y	ENSP00000299518:D364Y	D	+	1	0	IDH3A	76248391	1.000000	0.71417	0.341000	0.25589	0.914000	0.54420	7.146000	0.77373	2.941000	0.99782	0.655000	0.94253	GAT		0.373	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530	
IREB2	3658	broad.mit.edu	37	15	78764188	78764188	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78764188G>T	ENST00000258886.8	+	7	954	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	IREB2_ENST00000560440.1_Missense_Mutation_p.D269Y	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	269					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.D269Y(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAGAAAAAGACCTCCTCTT	0.398																																					p.D269Y	NSCLC(200;764 2208 35157 49871 50830)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805T	15						.						57.0	58.0	58.0					15																	78764188		2196	4293	6489	76551243	SO:0001583	missense	3658	exon7			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.805G>T	15.37:g.78764188G>T	ENSP00000258886:p.Asp269Tyr		76551243	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693656	0.68386	.	.	ENSG00000136381	ENST00000258886	T	0.17691	2.26	5.59	1.5	0.22942	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.306181	0.40469	N	0.001092	T	0.19967	0.0480	L	0.54323	1.7	0.34830	D	0.739601	P;P	0.43938	0.822;0.809	B;P	0.45558	0.446;0.485	T	0.22382	-1.0218	10	0.66056	D	0.02	-9.126	9.7826	0.40658	0.2849:0.0:0.7151:0.0	.	269;269	P48200;Q8WVK6	IREB2_HUMAN;.	Y	269	ENSP00000258886:D269Y	ENSP00000258886:D269Y	D	+	1	0	IREB2	76551243	1.000000	0.71417	0.003000	0.11579	0.887000	0.51463	3.116000	0.50399	0.085000	0.17107	0.585000	0.79938	GAC		0.398	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
IREB2	3658	broad.mit.edu	37	15	78770699	78770699	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78770699G>A	ENST00000258886.8	+	10	1405	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	419					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.R419Q(3)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAATTGTTTCGAAATGACCAG	0.393																																					p.R419Q	NSCLC(200;764 2208 35157 49871 50830)											.	.	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.G1256A	15						.						92.0	90.0	90.0					15																	78770699		2196	4293	6489	76557754	SO:0001583	missense	3658	exon10			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1256G>A	15.37:g.78770699G>A	ENSP00000258886:p.Arg419Gln		76557754	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135347	0.94517	.	.	ENSG00000136381	ENST00000258886	T	0.17854	2.25	5.37	4.38	0.52667	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.101689	0.64402	N	0.000004	T	0.35480	0.0933	M	0.81497	2.545	0.80722	D	1	D	0.59767	0.986	P	0.55577	0.779	T	0.24835	-1.0149	10	0.72032	D	0.01	-15.4669	11.2102	0.48793	0.0954:0.0:0.9046:0.0	.	419	P48200	IREB2_HUMAN	Q	419	ENSP00000258886:R419Q	ENSP00000258886:R419Q	R	+	2	0	IREB2	76557754	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	5.168000	0.64978	1.249000	0.43950	0.591000	0.81541	CGA		0.393	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
IREB2	3658	broad.mit.edu	37	15	78789594	78789594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78789594G>T	ENST00000258886.8	+	21	2871	c.2722G>T	c.(2722-2724)Gaa>Taa	p.E908*		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	908					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.E908*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTCCGGTAGAGAAACATTTTC	0.343																																					p.E908X	NSCLC(200;764 2208 35157 49871 50830)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2722T	15						.						73.0	72.0	72.0					15																	78789594		2196	4293	6489	76576649	SO:0001587	stop_gained	3658	exon21			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2722G>T	15.37:g.78789594G>T	ENSP00000258886:p.Glu908*		76576649	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Nonsense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	41	9.151234	0.99082	.	.	ENSG00000136381	ENST00000258886	.	.	.	5.87	5.87	0.94306	.	0.088500	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	908	.	ENSP00000258886:E908X	E	+	1	0	IREB2	76576649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.945000	0.92985	2.941000	0.99782	0.655000	0.94253	GAA		0.343	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	
CHRNA5	1138	broad.mit.edu	37	15	78882935	78882935	+	Missense_Mutation	SNP	G	G	A	rs141180754	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:78882935G>A	ENST00000299565.5	+	5	1402	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	401					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.R401H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	GATTCTATTCGCTACATTACA	0.398																																					p.R401H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1202A	15						.	G	HIS/ARG	3,4389	6.2+/-15.9	0,3,2193	65.0	63.0	64.0		1202	4.8	0.5	15	dbSNP_134	64	0,8586		0,0,4293	no	missense	CHRNA5	NM_000745.3	29	0,3,6486	AA,AG,GG		0.0,0.0683,0.0231	benign	401/469	78882935	3,12975	2196	4293	6489	76669990	SO:0001583	missense	1138	exon5				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1202G>A	15.37:g.78882935G>A	ENSP00000299565:p.Arg401His		76669990	NM_000745	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144789	0.37825	6.83E-4	0.0	ENSG00000169684	ENST00000299565	D	0.85773	-2.03	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.167902	0.52532	D	0.000061	D	0.85008	0.5599	M	0.72576	2.205	0.80722	D	1	B	0.23185	0.081	B	0.19946	0.027	T	0.82764	-0.0296	10	0.42905	T	0.14	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	401	P30532	ACHA5_HUMAN	H	401	ENSP00000299565:R401H	ENSP00000299565:R401H	R	+	2	0	CHRNA5	76669990	1.000000	0.71417	0.533000	0.28001	0.184000	0.23303	7.991000	0.88244	2.382000	0.81193	0.558000	0.71614	CGC		0.398	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1		
RASGRF1	5923	broad.mit.edu	37	15	79264252	79264252	+	Missense_Mutation	SNP	G	G	A	rs561370237		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:79264252G>A	ENST00000419573.3	-	27	3959	c.3685C>T	c.(3685-3687)Cgc>Tgc	p.R1229C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R445C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R1213C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1229	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1229C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGAAACTGGCGAATCTCTCGG	0.483																																					p.R1229C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3685T	15						.						292.0	242.0	259.0					15																	79264252		2196	4293	6489	77051307	SO:0001583	missense	5923	exon27			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3685C>T	15.37:g.79264252G>A	ENSP00000405963:p.Arg1229Cys		77051307	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.528966	0.64860	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.32515	1.45;1.45	4.23	4.23	0.50019	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.72625	0.889;0.978	T	0.62186	-0.6907	10	0.87932	D	0	.	14.1673	0.65486	0.0:0.0:1.0:0.0	.	1231;1213	Q13972;F8VPA5	RGRF1_HUMAN;.	C	1229;1213;445	ENSP00000405963:R1229C;ENSP00000378228:R445C	ENSP00000378224:R1213C	R	-	1	0	RASGRF1	77051307	0.997000	0.39634	0.999000	0.59377	0.774000	0.43823	1.860000	0.39428	2.169000	0.68431	0.561000	0.74099	CGC		0.483	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
RASGRF1	5923	broad.mit.edu	37	15	79284111	79284111	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:79284111A>C	ENST00000419573.3	-	22	3375	c.3101T>G	c.(3100-3102)tTt>tGt	p.F1034C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.F250C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.F1018C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1034					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1034C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGTTTTCAAAGGGCTCAGC	0.547																																					p.F1034C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3101G	15						.						106.0	94.0	98.0					15																	79284111		2196	4293	6489	77071166	SO:0001583	missense	5923	exon22			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3101T>G	15.37:g.79284111A>C	ENSP00000405963:p.Phe1034Cys		77071166	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097519	0.56075	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.35973	1.28;1.28	4.13	4.13	0.48395	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.85130	0.997;0.994;0.997;0.967	T	0.54173	-0.8333	10	0.87932	D	0	.	11.149	0.48447	1.0:0.0:0.0:0.0	.	430;1018;1036;1018	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	C	1034;1018;250	ENSP00000405963:F1034C;ENSP00000378228:F250C	ENSP00000378224:F1018C	F	-	2	0	RASGRF1	77071166	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	8.880000	0.92407	1.726000	0.51525	0.528000	0.53228	TTT		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
TMED3	23423	broad.mit.edu	37	15	79606168	79606168	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:79606168G>T	ENST00000299705.5	+	2	426	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	TMED3_ENST00000424155.2_Nonsense_Mutation_p.E80*|TMED3_ENST00000536821.1_Nonsense_Mutation_p.E80*	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	80	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E80*(1)		large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CATCTACAGAGAAACGAAGAA	0.468																																					p.E80X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G238T	15						.						155.0	135.0	142.0					15																	79606168		2196	4293	6489	77393223	SO:0001587	stop_gained	23423	exon2			BC022232	CCDS10310.1, CCDS73768.1	15q24-q25	2011-02-09	2005-08-26	2005-01-07	ENSG00000166557	ENSG00000166557			28889	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 22"", ""transmembrane emp24 domain containing 3"""	C15orf22		12975309	Standard	XM_005254263		Approved	p24B	uc002beu.3	Q9Y3Q3	OTTHUMG00000144170	ENST00000299705.5:c.238G>T	15.37:g.79606168G>T	ENSP00000299705:p.Glu80*		77393223	NM_007364	A8K069|B4DN05|Q2T9F8	Nonsense_Mutation	SNP	ENST00000299705.5	37	CCDS10310.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448522	0.97577	.	.	ENSG00000166557	ENST00000299705;ENST00000424155;ENST00000536821;ENST00000543455	.	.	.	4.7	4.7	0.59300	.	0.060301	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-5.0442	15.505	0.75731	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000299705:E80X	E	+	1	0	TMED3	77393223	1.000000	0.71417	0.881000	0.34555	0.955000	0.61496	9.130000	0.94437	2.578000	0.87016	0.655000	0.94253	GAA		0.468	TMED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291369.1	NM_007364	
KIAA1024	23251	broad.mit.edu	37	15	79749341	79749341	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:79749341G>A	ENST00000305428.3	+	2	927	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	284						integral component of membrane (GO:0016021)		p.E284E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAGAGAATGAGCACAGGGAAC	0.478																																					p.E284E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G852A	15						.						113.0	128.0	123.0					15																	79749341		2196	4293	6489	77536396	SO:0001819	synonymous_variant	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.852G>A	15.37:g.79749341G>A			77536396	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.478	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
KIAA1024	23251	broad.mit.edu	37	15	79750667	79750667	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:79750667C>A	ENST00000305428.3	+	2	2253	c.2178C>A	c.(2176-2178)atC>atA	p.I726I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	726						integral component of membrane (GO:0016021)		p.I726I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTGCCAGCATCTCCAACTCGC	0.517																																					p.I726I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2178A	15						.						85.0	80.0	82.0					15																	79750667		2196	4293	6489	77537722	SO:0001819	synonymous_variant	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2178C>A	15.37:g.79750667C>A			77537722	NM_015206	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.517	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
FAH	2184	broad.mit.edu	37	15	80465480	80465480	+	Silent	SNP	G	G	A	rs372980573		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:80465480G>A	ENST00000407106.1	+	10	986	c.831G>A	c.(829-831)ccG>ccA	p.P277P	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.P277P|FAH_ENST00000539156.1_Silent_p.P207P|FAH_ENST00000561421.1_Silent_p.P277P			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	277					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)	p.P277P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCCAACCCGAAGCAGGTAA	0.587									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P277P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G831A	15						.	G		1,4405	2.1+/-5.4	0,1,2202	173.0	142.0	153.0		831	-7.7	0.1	15		153	0,8600		0,0,4300	no	coding-synonymous	FAH	NM_000137.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		277/420	80465480	1,13005	2203	4300	6503	78252535	SO:0001819	synonymous_variant	2184	exon9	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.831G>A	15.37:g.80465480G>A		1198	78252535	NM_000137	B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	CCDS10314.1																																																																																				0.587	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		
ARNT2	9915	broad.mit.edu	37	15	80762585	80762585	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:80762585G>A	ENST00000303329.4	+	4	386	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ARNT2_ENST00000527771.1_Missense_Mutation_p.R63H|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000533983.1_Missense_Mutation_p.R63H	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	74	Poly-Arg.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R74H(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATCGAAAGGCGCAGACGGAAC	0.502																																					p.R74H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221A	15						.						76.0	66.0	69.0					15																	80762585		2203	4300	6503	78549640	SO:0001583	missense	9915	exon4			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.221G>A	15.37:g.80762585G>A	ENSP00000307479:p.Arg74His		78549640	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496821	0.85069	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.98493	-4.96	5.0	5.0	0.66597	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.98959	1.0797	10	0.87932	D	0	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	74;74	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	H	63;74;74	ENSP00000307479:R74H	ENSP00000307479:R74H	R	+	2	0	ARNT2	78549640	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	9.186000	0.94906	2.597000	0.87782	0.650000	0.86243	CGC		0.502	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
CEMIP	57214	broad.mit.edu	37	15	81173325	81173325	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81173325A>G	ENST00000394685.3	+	6	884	c.465A>G	c.(463-465)ggA>ggG	p.G155G	KIAA1199_ENST00000356249.5_Silent_p.G155G|KIAA1199_ENST00000220244.3_Silent_p.G155G			Q8WUJ3	CEMIP_HUMAN		155	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.G155G(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTTGCATGGACAGAAAAAGC	0.502																																					p.G155G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A465G	15						.						131.0	128.0	129.0					15																	81173325		2203	4300	6503	78960380	SO:0001819	synonymous_variant	57214	exon5																														ENST00000394685.3:c.465A>G	15.37:g.81173325A>G			78960380	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	CCDS10315.1																																																																																				0.502	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
MESDC2	23184	broad.mit.edu	37	15	81271764	81271764	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81271764G>T	ENST00000261758.4	-	3	587	c.501C>A	c.(499-501)gcC>gcA	p.A167A	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	167	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.A167A(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TGATCTCCCAGGCGTAGCTCC	0.527																																					p.A167A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	15						.						75.0	70.0	72.0					15																	81271764		2203	4300	6503	79058819	SO:0001819	synonymous_variant	23184	exon3			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.501C>A	15.37:g.81271764G>T			79058819	NM_015154	B4DW84|D3DW96|Q969U1	Silent	SNP	ENST00000261758.4	37	CCDS32308.1																																																																																				0.527	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
C15orf26	161502	broad.mit.edu	37	15	81428868	81428868	+	Silent	SNP	C	C	T	rs373978881		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81428868C>T	ENST00000286732.4	+	3	254	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	57								p.S57S(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TGCAACTTTCCGTAACTGAAG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		21246	0.0		0.0	False		,,,				2504	0.001				p.S57S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	15						.	C		1,4061		0,1,2030	111.0	109.0	110.0		171	-3.9	0.0	15		110	2,8362		0,2,4180	no	coding-synonymous	C15orf26	NM_173528.2		0,3,6210	TT,TC,CC		0.0239,0.0246,0.0241		57/302	81428868	3,12423	2031	4182	6213	79215923	SO:0001819	synonymous_variant	161502	exon3			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.171C>T	15.37:g.81428868C>T			79215923	NM_173528	Q8N906	Silent	SNP	ENST00000286732.4	37	CCDS42068.1																																																																																				0.408	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
C15orf26	161502	broad.mit.edu	37	15	81436094	81436094	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81436094T>C	ENST00000286732.4	+	5	652	c.569T>C	c.(568-570)gTg>gCg	p.V190A		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	190								p.V190A(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTCTCCCATGTGAACTGCTGG	0.532																																					p.V190A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T569C	15						.						148.0	146.0	147.0					15																	81436094		2013	4163	6176	79223149	SO:0001583	missense	161502	exon5			AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.569T>C	15.37:g.81436094T>C	ENSP00000286732:p.Val190Ala		79223149	NM_173528	Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	T	7.460	0.644407	0.14451	.	.	ENSG00000156206	ENST00000286732;ENST00000398681	T	0.39997	1.05	4.98	2.62	0.31277	.	0.345440	0.27012	N	0.021376	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.26883	-1.0090	10	0.09590	T	0.72	-22.206	6.7872	0.23679	0.1401:0.0:0.3254:0.5344	.	190	Q6P656	CO026_HUMAN	A	190;165	ENSP00000286732:V190A	ENSP00000286732:V190A	V	+	2	0	C15orf26	79223149	0.844000	0.29557	0.863000	0.33907	0.023000	0.10783	1.427000	0.34881	0.230000	0.21059	-0.331000	0.08364	GTG		0.532	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
IL16	3603	broad.mit.edu	37	15	81558046	81558046	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81558046G>T	ENST00000302987.4	+	3	468	c.468G>T	c.(466-468)aaG>aaT	p.K156N	IL16_ENST00000394660.2_Missense_Mutation_p.K156N			Q14005	IL16_HUMAN	interleukin 16	156					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K156N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAATGACCAAGAAATCTGCAG	0.448											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G468T	15						.						69.0	64.0	66.0					15																	81558046		1911	4129	6040	79345101	SO:0001583	missense	3603	exon4			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.468G>T	15.37:g.81558046G>T	ENSP00000302935:p.Lys156Asn	1207	79345101	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965403	0.34659	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.11821	2.74;2.74	4.45	2.4	0.29515	.	0.314453	0.22608	N	0.057861	T	0.14056	0.0340	M	0.63428	1.95	0.80722	D	1	P;P	0.38504	0.501;0.634	B;B	0.39465	0.157;0.3	T	0.04870	-1.0921	10	0.27785	T	0.31	.	7.1703	0.25715	0.2827:0.0:0.7173:0.0	.	156;156	Q14005;Q14005-2	IL16_HUMAN;.	N	156	ENSP00000378155:K156N;ENSP00000302935:K156N	ENSP00000302935:K156N	K	+	3	2	IL16	79345101	1.000000	0.71417	0.034000	0.17996	0.026000	0.11368	2.537000	0.45702	1.083000	0.41159	0.650000	0.86243	AAG		0.448	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IL16	3603	broad.mit.edu	37	15	81575048	81575048	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81575048G>A	ENST00000302987.4	+	8	1150	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	IL16_ENST00000394660.2_Missense_Mutation_p.V384I			Q14005	IL16_HUMAN	interleukin 16	384	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V384I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCATTTTCGTCCACACGCT	0.597																																					p.V384I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150A	15						.						171.0	180.0	177.0					15																	81575048		2148	4250	6398	79362103	SO:0001583	missense	3603	exon9			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1150G>A	15.37:g.81575048G>A	ENSP00000302935:p.Val384Ile		79362103	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	1.405	-0.576966	0.03854	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.18960	2.18;2.18	5.46	2.13	0.27403	PDZ/DHR/GLGF (3);	0.372399	0.19498	N	0.112817	T	0.05181	0.0138	N	0.01482	-0.84	0.80722	D	1	B;B	0.16396	0.01;0.017	B;B	0.10450	0.002;0.005	T	0.33394	-0.9870	10	0.02654	T	1	.	5.5128	0.16890	0.5631:0.0:0.4369:0.0	.	384;384	Q14005;Q14005-2	IL16_HUMAN;.	I	384;384;216;384	ENSP00000378155:V384I;ENSP00000302935:V384I	ENSP00000302935:V384I	V	+	1	0	IL16	79362103	1.000000	0.71417	0.042000	0.18584	0.412000	0.31113	2.464000	0.45067	0.652000	0.30806	0.591000	0.81541	GTC		0.597	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IL16	3603	broad.mit.edu	37	15	81589321	81589321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81589321G>T	ENST00000302987.4	+	12	1955	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000394660.2_Missense_Mutation_p.R652I|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	652					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R606I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGCAGGGAGAAGCCCTAGT	0.607																																					p.R652I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1955T	15						.						36.0	41.0	39.0					15																	81589321		1969	4161	6130	79376376	SO:0001583	missense	3603	exon13			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1955G>T	15.37:g.81589321G>T	ENSP00000302935:p.Arg652Ile		79376376	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241850	0.22796	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653	T;T	0.11821	2.74;2.74	4.7	-0.657	0.11432	.	0.468638	0.18179	N	0.149184	T	0.12561	0.0305	M	0.65975	2.015	0.21105	N	0.999786	P;B;B;B;B	0.39964	0.697;0.001;0.002;0.379;0.231	B;B;B;B;B	0.36030	0.216;0.001;0.002;0.157;0.146	T	0.12192	-1.0557	10	0.51188	T	0.08	.	7.0608	0.25125	0.0:0.3762:0.3247:0.2991	.	146;189;42;652;652	Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;IL16_HUMAN;.	I	652;484;652;189;42	ENSP00000378155:R652I;ENSP00000302935:R652I	ENSP00000302935:R652I	R	+	2	0	IL16	79376376	0.977000	0.34250	0.032000	0.17829	0.005000	0.04900	1.661000	0.37408	0.104000	0.17725	-0.165000	0.13383	AGA		0.607	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IL16	3603	broad.mit.edu	37	15	81592202	81592202	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81592202C>A	ENST00000302987.4	+	13	2535	c.2535C>A	c.(2533-2535)tcC>tcA	p.S845S	IL16_ENST00000394652.2_Silent_p.S144S|IL16_ENST00000394660.2_Silent_p.S845S|IL16_ENST00000560230.1_3'UTR			Q14005	IL16_HUMAN	interleukin 16	845					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S799S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAATCAGCTCCTTTGAAACCT	0.592																																					p.S845S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2535A	15						.						28.0	28.0	28.0					15																	81592202		2203	4299	6502	79379257	SO:0001819	synonymous_variant	3603	exon14			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2535C>A	15.37:g.81592202C>A			79379257	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IL16	3603	broad.mit.edu	37	15	81598384	81598384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:81598384C>T	ENST00000302987.4	+	16	3556	c.3556C>T	c.(3556-3558)Cga>Tga	p.R1186*	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Nonsense_Mutation_p.R485*|IL16_ENST00000394660.2_Nonsense_Mutation_p.R1186*			Q14005	IL16_HUMAN	interleukin 16	1186	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1140*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCGCCAAGCTCGAGAGCCCAG	0.577																																					p.R1186X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|breast(1)	c.C3556T	15						.						132.0	134.0	133.0					15																	81598384		2203	4300	6503	79385439	SO:0001587	stop_gained	3603	exon17			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3556C>T	15.37:g.81598384C>T	ENSP00000302935:p.Arg1186*		79385439	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Nonsense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945330	0.73672	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	.	.	.	4.64	2.62	0.31277	.	0.000000	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3392	0.60535	0.2862:0.7138:0.0:0.0	.	.	.	.	X	1186;1018;1186;576;485;485	.	ENSP00000302935:R1186X	R	+	1	2	IL16	79385439	1.000000	0.71417	0.688000	0.30117	0.000000	0.00434	2.594000	0.46189	1.136000	0.42199	-0.182000	0.12963	CGA		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
MEX3B	84206	broad.mit.edu	37	15	82335531	82335531	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:82335531C>T	ENST00000329713.4	-	2	2115	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	560					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A560A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCTGAGTGACCGCGGTGTGGC	0.647																																					p.A560A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1680A	15						.						39.0	41.0	40.0					15																	82335531		2203	4300	6503	80122586	SO:0001819	synonymous_variant	84206	exon2			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1680G>A	15.37:g.82335531C>T			80122586	NM_032246	Q4G0W1|Q8IVG2|Q9H0J0	Silent	SNP	ENST00000329713.4	37	CCDS10319.1																																																																																				0.647	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645	
MEX3B	84206	broad.mit.edu	37	15	82336595	82336595	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:82336595C>T	ENST00000329713.4	-	2	1051	c.616G>A	c.(616-618)Gag>Aag	p.E206K	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	206	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E206K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CCGGTCACCTCGAACACCGGC	0.622																																					p.E206K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616A	15						.						134.0	126.0	129.0					15																	82336595		2203	4300	6503	80123650	SO:0001583	missense	84206	exon2			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.616G>A	15.37:g.82336595C>T	ENSP00000329918:p.Glu206Lys		80123650	NM_032246	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	ENST00000329713.4	37	CCDS10319.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561935	0.96527	.	.	ENSG00000183496	ENST00000329713	T	0.32272	1.46	4.88	4.88	0.63580	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.61441	-0.7062	10	0.62326	D	0.03	-31.6479	16.946	0.86230	0.0:1.0:0.0:0.0	.	206	Q6ZN04	MEX3B_HUMAN	K	206	ENSP00000329918:E206K	ENSP00000329918:E206K	E	-	1	0	MEX3B	80123650	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.355000	0.79434	2.526000	0.85167	0.655000	0.94253	GAG		0.622	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304000.1	XM_290645	
FAM154B	283726	broad.mit.edu	37	15	82564057	82564057	+	Missense_Mutation	SNP	C	C	T	rs138112776	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:82564057C>T	ENST00000339465.5	+	2	236	c.167C>T	c.(166-168)tCg>tTg	p.S56L	FAM154B_ENST00000427381.2_Missense_Mutation_p.S41L|FAM154B_ENST00000565432.1_Missense_Mutation_p.S69L|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	56								p.S56L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GATTTGAATTCGTATAAAGTG	0.403																																					p.S56L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C167T	15						.	C	LEU/SER	5,4401	9.9+/-24.2	0,5,2198	91.0	82.0	85.0		167	4.0	0.5	15	dbSNP_134	85	0,8600		0,0,4300	yes	missense	FAM154B	NM_001008226.1	145	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	56/399	82564057	5,13001	2203	4300	6503	80351112	SO:0001583	missense	283726	exon2			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.167C>T	15.37:g.82564057C>T	ENSP00000340445:p.Ser56Leu		80351112	NM_001008226	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230547	0.39399	0.001135	0.0	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18657	2.2;2.2	4.98	4.04	0.47022	.	0.504726	0.18593	N	0.136673	T	0.20941	0.0504	M	0.61703	1.905	0.21841	N	0.99951	B;B	0.34255	0.445;0.08	B;B	0.28709	0.093;0.036	T	0.11275	-1.0594	10	0.27082	T	0.32	-0.8298	13.9161	0.63899	0.0:0.9205:0.0:0.0795	.	41;56	B4E2M2;Q658L1	.;F154B_HUMAN	L	56;41	ENSP00000340445:S56L;ENSP00000403743:S41L	ENSP00000340445:S56L	S	+	2	0	FAM154B	80351112	0.934000	0.31675	0.526000	0.27913	0.287000	0.27160	1.814000	0.38972	2.481000	0.83766	0.591000	0.81541	TCG		0.403	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
CPEB1	64506	broad.mit.edu	37	15	83215979	83215979	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83215979G>T	ENST00000562019.1	-	10	1739	c.1423C>A	c.(1423-1425)Cgt>Agt	p.R475S	CPEB1_ENST00000568757.1_Missense_Mutation_p.R395S|CPEB1_ENST00000568128.1_Missense_Mutation_p.R470S|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.R395S|CPEB1_ENST00000564522.1_Missense_Mutation_p.R395S|CPEB1_ENST00000423133.2_Missense_Mutation_p.R395S|CPEB1_ENST00000398592.2_Missense_Mutation_p.R244S|CPEB1_ENST00000261723.6_Missense_Mutation_p.R473S|RP11-152F13.10_ENST00000562833.1_Silent_p.V204V|CPEB1_ENST00000563800.1_Missense_Mutation_p.R497S|CPEB1_ENST00000398591.2_Missense_Mutation_p.R400S			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	475	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R400S(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AAAGTCACACGACCAGAACCT	0.413																																					p.R395S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183A	15						.						69.0	66.0	67.0					15																	83215979		1897	4133	6030	81013034	SO:0001583	missense	64506	exon8			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1423C>A	15.37:g.83215979G>T	ENSP00000457836:p.Arg475Ser		81013034	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	g	24.9	4.585796	0.86748	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.18	4.2	0.49525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.31857	0.0810	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.995;0.998	T	0.32241	-0.9914	10	0.87932	D	0	-8.6322	14.7937	0.69863	0.0:0.0:0.8552:0.1448	.	473;470;475;470	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	S	470;470;395;400;473;244	ENSP00000397526:R395S;ENSP00000381591:R400S;ENSP00000261723:R473S;ENSP00000381592:R244S	ENSP00000261723:R473S	R	-	1	0	CPEB1	81013034	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.240000	0.72363	2.569000	0.86673	0.591000	0.81541	CGT		0.413	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
CPEB1	64506	broad.mit.edu	37	15	83224787	83224787	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83224787G>T	ENST00000562019.1	-	5	1008	c.692C>A	c.(691-693)tCt>tAt	p.S231Y	CPEB1_ENST00000568757.1_Missense_Mutation_p.S156Y|CPEB1_ENST00000568128.1_Missense_Mutation_p.S231Y|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.S156Y|CPEB1_ENST00000564522.1_Missense_Mutation_p.S156Y|CPEB1_ENST00000423133.2_Missense_Mutation_p.S156Y|CPEB1_ENST00000398592.2_Missense_Mutation_p.S5Y|CPEB1_ENST00000261723.6_Missense_Mutation_p.S234Y|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000563800.1_Missense_Mutation_p.S258Y|CPEB1_ENST00000398591.2_Missense_Mutation_p.S156Y			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	231					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S156Y(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCCATCCGAGACCCTACCCC	0.572																																					p.S156Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467A	15						.						38.0	38.0	38.0					15																	83224787		1919	4126	6045	81021842	SO:0001583	missense	64506	exon3			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.692C>A	15.37:g.83224787G>T	ENSP00000457836:p.Ser231Tyr		81021842	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	26.5	4.742988	0.89573	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T	0.10288	2.89;2.89;2.89	5.81	5.81	0.92471	.	0.144107	0.48286	U	0.000190	T	0.26048	0.0635	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.993;0.998	D;D;P;D	0.67548	0.93;0.952;0.884;0.93	T	0.00229	-1.1898	10	0.66056	D	0.02	-14.5838	20.0736	0.97735	0.0:0.0:1.0:0.0	.	234;231;231;231	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	Y	231;231;156;156;234;5	ENSP00000397526:S156Y;ENSP00000381591:S156Y;ENSP00000261723:S234Y	ENSP00000261723:S234Y	S	-	2	0	CPEB1	81021842	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.155000	0.77445	2.748000	0.94277	0.655000	0.94253	TCT		0.572	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
CPEB1	64506	broad.mit.edu	37	15	83240163	83240163	+	Missense_Mutation	SNP	G	G	T	rs373592605		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83240163G>T	ENST00000562019.1	-	3	626	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	CPEB1_ENST00000568757.1_Missense_Mutation_p.L29M|CPEB1_ENST00000398592.2_De_novo_Start_OutOfFrame|CPEB1_ENST00000568128.1_Missense_Mutation_p.L104M|CPEB1_ENST00000398591.2_Missense_Mutation_p.L29M|CPEB1_ENST00000423133.2_Missense_Mutation_p.L29M|CPEB1_ENST00000564522.1_Missense_Mutation_p.L29M|CPEB1_ENST00000563800.1_Missense_Mutation_p.L131M|CPEB1_ENST00000261723.6_Missense_Mutation_p.L107M|CPEB1_ENST00000450751.2_Missense_Mutation_p.L29M			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	104					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.L29M(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGCCTGTCAGACTGAGGGAC	0.572																																					p.L29M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C85A	15						.						113.0	116.0	115.0					15																	83240163		1989	4179	6168	81037218	SO:0001583	missense	64506	exon1			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.310C>A	15.37:g.83240163G>T	ENSP00000457836:p.Leu104Met		81037218	NM_001079535	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37		.	.	.	.	.	.	.	.	.	.	G	19.07	3.756682	0.69648	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.71	4.61	0.57282	.	0.000000	0.64402	U	0.000003	T	0.65801	0.2726	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	T	0.69206	-0.5206	9	0.87932	D	0	-8.2695	15.583	0.76459	0.0769:0.0:0.9231:0.0	.	107;104;104;104	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	M	104;104;29;29;107	.	ENSP00000261723:L107M	L	-	1	2	CPEB1	81037218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.233000	0.65337	2.694000	0.91930	0.557000	0.71058	CTG		0.572	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594	
FSD2	123722	broad.mit.edu	37	15	83455609	83455609	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83455609G>T	ENST00000334574.8	-	2	715	c.534C>A	c.(532-534)gtC>gtA	p.V178V	FSD2_ENST00000541889.1_Silent_p.V178V			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	178								p.V178V(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGACACAGAAGACATCAGCAG	0.468																																					p.V178V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	15						.						141.0	141.0	141.0					15																	83455609		2016	4174	6190	81252663	SO:0001819	synonymous_variant	123722	exon2			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.534C>A	15.37:g.83455609G>T			81252663	NM_001007122	B3KVG1|B7ZM02	Silent	SNP	ENST00000334574.8	37	CCDS45332.1																																																																																				0.468	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
BNC1	646	broad.mit.edu	37	15	83932029	83932029	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83932029G>T	ENST00000345382.2	-	4	2059	c.1974C>A	c.(1972-1974)ttC>ttA	p.F658L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.F651L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	658					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F658L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCCCAGGTGTGAAGTAGTGTT	0.547																																					p.F658L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1974A	15						.						102.0	102.0	102.0					15																	83932029		2203	4300	6503	81723033	SO:0001583	missense	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1974C>A	15.37:g.83932029G>T	ENSP00000307041:p.Phe658Leu		81723033	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	0.082	-1.182777	0.01620	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.38887	1.11	4.79	0.0832	0.14432	.	0.582709	0.17372	N	0.176656	T	0.10035	0.0246	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25467	-1.0131	10	0.09590	T	0.72	-18.2689	1.8353	0.03138	0.2731:0.1095:0.4469:0.1705	.	651;658	F5GY04;Q01954	.;BNC1_HUMAN	L	658;651	ENSP00000307041:F658L	ENSP00000307041:F658L	F	-	3	2	BNC1	81723033	0.004000	0.15560	0.036000	0.18154	0.197000	0.23852	0.239000	0.18023	0.174000	0.19809	-0.345000	0.07892	TTC		0.547	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
BNC1	646	broad.mit.edu	37	15	83932836	83932836	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:83932836G>A	ENST00000345382.2	-	4	1252	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.I382I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	389					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I389I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TACACCCTTCGATGGTGCACT	0.517																																					p.I389I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	15						.						143.0	129.0	134.0					15																	83932836		2203	4300	6503	81723840	SO:0001819	synonymous_variant	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1167C>T	15.37:g.83932836G>A			81723840	NM_001717	Q15840	Silent	SNP	ENST00000345382.2	37	CCDS10324.1																																																																																				0.517	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
SH3GL3	6457	broad.mit.edu	37	15	84241376	84241376	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:84241376C>A	ENST00000427482.2	+	5	697	c.391C>A	c.(391-393)Ctt>Att	p.L131I	SH3GL3_ENST00000324537.5_Missense_Mutation_p.L139I|SH3GL3_ENST00000434347.1_Missense_Mutation_p.L139I|SH3GL3_ENST00000535412.1_Missense_Mutation_p.L131I	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	131	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.L139I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAAGACTCTCTTGATATTAA	0.338																																					p.L131I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391A	15						.						113.0	100.0	105.0					15																	84241376		2203	4300	6503	82032380	SO:0001583	missense	6457	exon5			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.391C>A	15.37:g.84241376C>A	ENSP00000391372:p.Leu131Ile		82032380	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272910	0.80580	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.45	4.53	0.55603	BAR (3);	0.136528	0.51477	D	0.000089	D	0.83963	0.5368	M	0.89601	3.045	0.58432	D	0.999999	D;D;D	0.69078	0.98;0.997;0.981	D;D;D	0.79108	0.918;0.992;0.977	D	0.87255	0.2275	10	0.72032	D	0.01	-2.8088	13.6159	0.62108	0.0:0.9251:0.0:0.0749	.	131;131;139	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	I	131;131;139;139	ENSP00000391372:L131I;ENSP00000439239:L131I;ENSP00000320092:L139I;ENSP00000397871:L139I	ENSP00000320092:L139I	L	+	1	0	SH3GL3	82032380	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.471000	0.60182	1.433000	0.47394	0.585000	0.79938	CTT		0.338	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
SH3GL3	6457	broad.mit.edu	37	15	84286958	84286958	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:84286958C>A	ENST00000427482.2	+	9	1269	c.963C>A	c.(961-963)aaC>aaA	p.N321K	SH3GL3_ENST00000324537.5_Missense_Mutation_p.N329K|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000434347.1_Missense_Mutation_p.N329K|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000535412.1_3'UTR	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	321	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.N329K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TAGATGAAAACTGGTATGAAG	0.403																																					p.N321K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C963A	15						.						114.0	106.0	109.0					15																	84286958		2203	4300	6503	82077962	SO:0001583	missense	6457	exon9			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.963C>A	15.37:g.84286958C>A	ENSP00000391372:p.Asn321Lys		82077962	NM_003027	O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745372	0.69418	.	.	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.31510	1.49;1.49;1.49	5.54	1.58	0.23477	Src homology-3 domain (5);	0.170294	0.64402	N	0.000007	T	0.50905	0.1643	M	0.92784	3.345	0.58432	D	0.999996	P;P	0.50066	0.868;0.931	P;B	0.52758	0.708;0.396	T	0.56402	-0.7985	10	0.87932	D	0	-37.5799	8.2432	0.31673	0.0:0.5914:0.0:0.4086	.	321;329	Q99963;Q99963-3	SH3G3_HUMAN;.	K	321;329;329	ENSP00000391372:N321K;ENSP00000320092:N329K;ENSP00000397871:N329K	ENSP00000320092:N329K	N	+	3	2	SH3GL3	82077962	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.501000	0.22578	0.300000	0.22699	0.563000	0.77884	AAC		0.403	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
ADAMTSL3	57188	broad.mit.edu	37	15	84539657	84539657	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:84539657C>T	ENST00000286744.5	+	9	1130	c.906C>T	c.(904-906)tcC>tcT	p.S302S	ADAMTSL3_ENST00000567476.1_Silent_p.S302S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	302						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S302S(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGAGGGGCTCCGAGAGGCAAA	0.438																																					p.S302S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	15						.						75.0	81.0	79.0					15																	84539657		2203	4300	6503	82330661	SO:0001819	synonymous_variant	57188	exon9			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.906C>T	15.37:g.84539657C>T			82330661	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.438	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAMTSL3	57188	broad.mit.edu	37	15	84651189	84651189	+	Nonsense_Mutation	SNP	C	C	T	rs370313572		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:84651189C>T	ENST00000286744.5	+	21	3033	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.R937*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	937	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R937*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGCCCCGTGCGACGATTCCA	0.493																																					p.R937X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2809T	15						.	C	stop/ARG	0,4406		0,0,2203	145.0	135.0	138.0		2809	2.9	0.9	15		138	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ADAMTSL3	NM_207517.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		937/1692	84651189	1,13005	2203	4300	6503	82442193	SO:0001587	stop_gained	57188	exon21			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2809C>T	15.37:g.84651189C>T	ENSP00000286744:p.Arg937*		82442193	NM_207517	A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	40	8.117786	0.98662	0.0	1.16E-4	ENSG00000156218	ENST00000286744	.	.	.	5.05	2.87	0.33458	.	0.000000	0.36066	N	0.002814	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9764	0.71277	0.2712:0.7288:0.0:0.0	.	.	.	.	X	937	.	ENSP00000286744:R937X	R	+	1	2	ADAMTSL3	82442193	0.503000	0.26115	0.918000	0.36340	0.971000	0.66376	0.578000	0.23773	1.073000	0.40885	0.563000	0.77884	CGA		0.493	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ZSCAN2	54993	broad.mit.edu	37	15	85165259	85165259	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85165259G>T	ENST00000448803.2	+	3	2125	c.1833G>T	c.(1831-1833)gaG>gaT	p.E611D	ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E611D|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E461D|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E610D|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.E611D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACATGAAAGAGAAACTTTATT	0.488																																					p.E611D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1833T	15						.						51.0	56.0	55.0					15																	85165259		2203	4299	6502	82966263	SO:0001583	missense	54993	exon3			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1833G>T	15.37:g.85165259G>T	ENSP00000410198:p.Glu611Asp		82966263	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030999	0.35797	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.07114	3.23;3.23;3.22;3.22	5.04	1.9	0.25705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.390352	0.22115	N	0.064432	T	0.14056	0.0340	M	0.77486	2.375	0.80722	D	1	P;B	0.45396	0.857;0.0	P;B	0.46076	0.503;0.0	T	0.02385	-1.1167	9	.	.	.	-16.5951	8.0913	0.30803	0.0871:0.3024:0.6105:0.0	.	611;611	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	D	611;611;461;610;592	ENSP00000410198:E611D;ENSP00000445451:E611D;ENSP00000351257:E461D;ENSP00000325123:E610D	.	E	+	3	2	ZSCAN2	82966263	0.768000	0.28519	0.997000	0.53966	0.976000	0.68499	0.030000	0.13688	0.512000	0.28257	0.655000	0.94253	GAG		0.488	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
ZNF592	9640	broad.mit.edu	37	15	85326329	85326329	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85326329C>A	ENST00000560079.2	+	4	711	c.423C>A	c.(421-423)ttC>ttA	p.F141L	ZNF592_ENST00000299927.3_Missense_Mutation_p.F141L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	141					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.F141L(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)			TCAACCAGTTCAGTCCAATCT	0.483																																					p.F141L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C423A	15						.						110.0	117.0	115.0					15																	85326329		2203	4299	6502	83127333	SO:0001583	missense	9640	exon4			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.423C>A	15.37:g.85326329C>A	ENSP00000452877:p.Phe141Leu		83127333	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181095	0.57800	.	.	ENSG00000166716	ENST00000299927	T	0.00882	5.58	6.06	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	L	0.52573	1.65	0.46798	D	0.999207	D	0.89917	1.0	D	0.85130	0.997	T	0.50642	-0.8804	10	0.87932	D	0	-23.9264	9.8941	0.41306	0.0:0.8271:0.0:0.1729	.	141	Q92610	ZN592_HUMAN	L	141	ENSP00000299927:F141L	ENSP00000299927:F141L	F	+	3	2	ZNF592	83127333	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.706000	0.25690	0.837000	0.34925	-0.140000	0.14226	TTC		0.483	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ZNF592	9640	broad.mit.edu	37	15	85328041	85328041	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85328041A>C	ENST00000560079.2	+	4	2423	c.2135A>C	c.(2134-2136)aAg>aCg	p.K712T	ZNF592_ENST00000299927.3_Missense_Mutation_p.K712T	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	712					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.K712T(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)			TACTCAATCAAGTGTCTTGAA	0.567																																					p.K712T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2135C	15						.						83.0	77.0	79.0					15																	85328041		2203	4299	6502	83129045	SO:0001583	missense	9640	exon4			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.2135A>C	15.37:g.85328041A>C	ENSP00000452877:p.Lys712Thr		83129045	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946764	0.73672	.	.	ENSG00000166716	ENST00000299927	T	0.36340	1.26	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.275847	0.41097	D	0.000952	T	0.37705	0.1013	L	0.41415	1.275	0.40625	D	0.981803	P	0.41188	0.741	B	0.43658	0.426	T	0.30650	-0.9971	10	0.87932	D	0	-17.8611	14.5927	0.68378	1.0:0.0:0.0:0.0	.	712	Q92610	ZN592_HUMAN	T	712	ENSP00000299927:K712T	ENSP00000299927:K712T	K	+	2	0	ZNF592	83129045	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.714000	0.61902	2.326000	0.78906	0.533000	0.62120	AAG		0.567	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ALPK3	57538	broad.mit.edu	37	15	85382262	85382262	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85382262G>A	ENST00000258888.5	+	4	1129	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	321	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R321H(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGCTGGACCGCTACTGTGGC	0.532																																					p.R321H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	15						.						61.0	51.0	54.0					15																	85382262		2203	4299	6502	83183266	SO:0001583	missense	57538	exon4			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.962G>A	15.37:g.85382262G>A	ENSP00000258888:p.Arg321His		83183266	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858119	0.91433	.	.	ENSG00000136383	ENST00000258888	T	0.67345	-0.26	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78272	0.4257	L	0.54323	1.7	0.48185	D	0.999607	D	0.89917	1.0	D	0.97110	1.0	T	0.80289	-0.1445	10	0.66056	D	0.02	-15.8636	15.5548	0.76184	0.0:0.0:1.0:0.0	.	321	Q96L96	ALPK3_HUMAN	H	321	ENSP00000258888:R321H	ENSP00000258888:R321H	R	+	2	0	ALPK3	83183266	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.332000	0.96446	2.266000	0.75297	0.491000	0.48974	CGC		0.532	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
ALPK3	57538	broad.mit.edu	37	15	85384009	85384009	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85384009C>A	ENST00000258888.5	+	5	2272	c.2105C>A	c.(2104-2106)tCt>tAt	p.S702Y		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	702					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S702Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGCCCATTTCTTCTCTGAGT	0.602																																					p.S702Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2105A	15						.						47.0	47.0	47.0					15																	85384009		2203	4299	6502	83185013	SO:0001583	missense	57538	exon5			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2105C>A	15.37:g.85384009C>A	ENSP00000258888:p.Ser702Tyr		83185013	NM_020778	Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835415	0.50951	.	.	ENSG00000136383	ENST00000258888	T	0.61158	0.13	5.23	4.31	0.51392	.	1.817510	0.03327	U	0.192825	T	0.61813	0.2377	N	0.24115	0.695	0.09310	N	1	D	0.58970	0.984	P	0.57371	0.819	T	0.55256	-0.8169	10	0.51188	T	0.08	-7.8859	10.1274	0.42658	0.0:0.9052:0.0:0.0948	.	702	Q96L96	ALPK3_HUMAN	Y	702	ENSP00000258888:S702Y	ENSP00000258888:S702Y	S	+	2	0	ALPK3	83185013	0.001000	0.12720	0.008000	0.14137	0.017000	0.09413	1.304000	0.33482	2.444000	0.82710	0.557000	0.71058	TCT		0.602	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778	
SLC28A1	9154	broad.mit.edu	37	15	85433735	85433735	+	Nonsense_Mutation	SNP	C	C	T	rs564042221		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:85433735C>T	ENST00000286749.3	+	4	337	c.247C>T	c.(247-249)Cga>Tga	p.R83*	SLC28A1_ENST00000538177.1_Nonsense_Mutation_p.R83*|SLC28A1_ENST00000537216.1_Nonsense_Mutation_p.R83*|SLC28A1_ENST00000394573.1_Nonsense_Mutation_p.R83*|SLC28A1_ENST00000537703.1_Nonsense_Mutation_p.R5*|SLC28A1_ENST00000338602.2_Nonsense_Mutation_p.R83*|SLC28A1_ENST00000537624.1_Nonsense_Mutation_p.R83*			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	83					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.R83*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCAGCTGTTTCGATGGATCGG	0.602																																					p.R83X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C247T	15						.						59.0	48.0	52.0					15																	85433735		2203	4299	6502	83234739	SO:0001587	stop_gained	9154	exon5			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.247C>T	15.37:g.85433735C>T	ENSP00000286749:p.Arg83*		83234739	NM_201651	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Nonsense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	36	5.922442	0.97105	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	.	.	.	4.29	1.1	0.20463	.	0.548689	0.18135	N	0.150601	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-5.7617	6.1816	0.20474	0.3669:0.4389:0.1942:0.0	.	.	.	.	X	83;83;83;83;83;83;5	.	ENSP00000286749:R83X	R	+	1	2	SLC28A1	83234739	0.000000	0.05858	0.003000	0.11579	0.153000	0.21895	0.083000	0.14871	0.054000	0.16065	0.563000	0.77884	CGA		0.602	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
AKAP13	11214	broad.mit.edu	37	15	86236540	86236540	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:86236540G>T	ENST00000394518.2	+	17	5417	c.5322G>T	c.(5320-5322)gaG>gaT	p.E1774D	AKAP13_ENST00000361243.2_Missense_Mutation_p.E1778D|AKAP13_ENST00000394510.2_Missense_Mutation_p.E19D|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1774					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.E1778D(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						agattaaggagaaggagaaag	0.423																																					p.E1778D	Melanoma(94;603 1453 3280 32295 32951)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5334T	15						.						100.0	104.0	103.0					15																	86236540		2202	4299	6501	84037544	SO:0001583	missense	11214	exon17			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5322G>T	15.37:g.86236540G>T	ENSP00000378026:p.Glu1774Asp		84037544	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785498	0.49997	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.26373	2.81;2.82;1.74	5.65	3.77	0.43336	.	.	.	.	.	T	0.31606	0.0802	N	0.21194	0.64	0.32464	N	0.543764	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.80764	0.98;0.987;0.994	T	0.28776	-1.0033	9	0.30854	T	0.27	.	8.1046	0.30879	0.2495:0.0:0.7505:0.0	.	1756;1774;1778	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	D	1778;1774;1777;1755;19	ENSP00000354718:E1778D;ENSP00000378026:E1774D;ENSP00000378018:E19D	ENSP00000354718:E1778D	E	+	3	2	AKAP13	84037544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.258000	0.32944	0.723000	0.32274	0.655000	0.94253	GAG		0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
AKAP13	11214	broad.mit.edu	37	15	86270342	86270342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:86270342G>T	ENST00000394518.2	+	28	6963	c.6868G>T	c.(6868-6870)Gaa>Taa	p.E2290*	RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.E2294*|AKAP13_ENST00000394510.2_Nonsense_Mutation_p.E535*|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2290	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.E370*(1)|p.E2294*(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATTGTGAGAGAAGTGGCACA	0.423																																					p.E2294X	Melanoma(94;603 1453 3280 32295 32951)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6880T	15						.						109.0	102.0	105.0					15																	86270342		2202	4299	6501	84071346	SO:0001587	stop_gained	11214	exon28			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6868G>T	15.37:g.86270342G>T	ENSP00000378026:p.Glu2290*		84071346	NM_006738	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	49	15.228620	0.99827	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6094	0.91279	0.0:0.0:1.0:0.0	.	.	.	.	X	370;2294;2290;2293;2269;535	.	ENSP00000354718:E2294X	E	+	1	0	AKAP13	84071346	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	9.476000	0.97823	2.636000	0.89361	0.557000	0.71058	GAA		0.423	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
AGBL1	123624	broad.mit.edu	37	15	86940623	86940623	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:86940623G>A	ENST00000441037.2	+	17	2358	c.2263G>A	c.(2263-2265)Gct>Act	p.A755T	AGBL1_ENST00000389298.3_Missense_Mutation_p.A486T|AGBL1_ENST00000421325.2_Missense_Mutation_p.A755T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	755					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A755T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGTGATCACTGCTCGAGTTCA	0.428																																					p.A755T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2263A	15						.						118.0	112.0	114.0					15																	86940623		1951	4137	6088	84741627	SO:0001583	missense	123624	exon17			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2263G>A	15.37:g.86940623G>A	ENSP00000413001:p.Ala755Thr		84741627	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335541	0.81801	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.18016	2.24;2.24	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.079753	0.49916	D	0.000133	T	0.49406	0.1555	M	0.91090	3.175	0.36848	D	0.887766	D	0.76494	0.999	D	0.73380	0.98	T	0.64495	-0.6394	10	0.87932	D	0	-19.2008	13.6716	0.62430	0.0:0.0:0.8457:0.1543	.	755	Q96MI9	CBPC4_HUMAN	T	784;755;486	ENSP00000397173:A755T;ENSP00000373949:A486T	ENSP00000373949:A486T	A	+	1	0	AGBL1	84741627	1.000000	0.71417	0.965000	0.40720	0.949000	0.60115	6.470000	0.73558	2.733000	0.93635	0.655000	0.94253	GCT		0.428	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
AGBL1	123624	broad.mit.edu	37	15	87531274	87531274	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:87531274C>T	ENST00000441037.2	+	23	3235	c.3140C>T	c.(3139-3141)gCc>gTc	p.A1047V	AGBL1_ENST00000389298.3_Missense_Mutation_p.A778V|AGBL1_ENST00000421325.2_Missense_Mutation_p.A1047V|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1047			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.A1047V(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cacttttttgccattacaaac	0.388																																					p.A1047V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3140T	15						.						276.0	258.0	264.0					15																	87531274		1858	4084	5942	85332278	SO:0001583	missense	123624	exon23			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3140C>T	15.37:g.87531274C>T	ENSP00000413001:p.Ala1047Val		85332278	NM_152336	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	6.507	0.461826	0.12342	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10668	2.88;2.85	1.78	1.78	0.24846	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.28378	0.209	B	0.14578	0.011	T	0.38178	-0.9673	9	0.30078	T	0.28	.	7.0229	0.24924	0.0:1.0:0.0:0.0	.	1047	Q96MI9	CBPC4_HUMAN	V	1047;778	ENSP00000397173:A1047V;ENSP00000373949:A778V	ENSP00000373949:A778V	A	+	2	0	AGBL1	85332278	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	-0.680000	0.05197	1.281000	0.44480	0.514000	0.50259	GCC		0.388	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NTRK3	4916	broad.mit.edu	37	15	88524540	88524540	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:88524540C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.R546I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R546I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tagatgatctctattgtcctt	0.438			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.R546I			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1637T	15						.						126.0	112.0	117.0					15																	88524540		2201	4299	6500	86325544	SO:0001627	intron_variant	4916	exon14			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1586-40556G>T	15.37:g.88524540C>A			86325544	NM_001007156	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Intron	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691356	0.48097	.	.	ENSG00000140538	ENST00000543429;ENST00000540489;ENST00000317501	T;T	0.63417	-0.04;-0.04	3.83	3.83	0.44106	.	.	.	.	.	T	0.52338	0.1728	N	0.08118	0	0.41448	D	0.987967	P	0.45531	0.86	P	0.52309	0.695	T	0.60454	-0.7260	9	0.87932	D	0	.	11.5631	0.50790	0.0:1.0:0.0:0.0	.	546	Q96CY4	.	I	17;546;546	ENSP00000444673:R546I;ENSP00000318328:R546I	ENSP00000318328:R546I	R	-	2	0	NTRK3	86325544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.419000	0.82065	0.655000	0.94253	AGA		0.438	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
NTRK3	4916	broad.mit.edu	37	15	88576190	88576190	+	Missense_Mutation	SNP	C	C	A	rs112443158		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:88576190C>A	ENST00000360948.2	-	13	1644	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	NTRK3_ENST00000558676.1_Missense_Mutation_p.D487Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.D487Y|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Missense_Mutation_p.D397Y|NTRK3_ENST00000357724.2_Missense_Mutation_p.D487Y|NTRK3_ENST00000540489.2_Missense_Mutation_p.D495Y|NTRK3_ENST00000394480.2_Missense_Mutation_p.D495Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.D495Y|NTRK3_ENST00000317501.3_Missense_Mutation_p.D495Y	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	495					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D495Y(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCCCGGCATCCAGTGACGAG	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.D495Y			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1483T	15						.						99.0	64.0	76.0					15																	88576190		2201	4299	6500	86377194	SO:0001583	missense	4916	exon13			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1483G>T	15.37:g.88576190C>A	ENSP00000354207:p.Asp495Tyr		86377194	NM_001007156	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676714	0.47886	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74209	-0.82;-0.78;-0.78;-0.82;-0.71;-0.09;-0.09	4.91	3.96	0.45880	.	0.047454	0.85682	D	0.000000	T	0.81187	0.4770	L	0.50333	1.59	0.80722	D	1	D;D;B;D;D;B	0.89917	1.0;1.0;0.37;0.999;1.0;0.37	D;D;B;D;D;B	0.91635	0.997;0.997;0.152;0.915;0.999;0.248	T	0.82114	-0.0617	10	0.87932	D	0	.	11.0307	0.47772	0.0:0.9055:0.0:0.0945	.	397;487;487;495;495;495	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	Y	495;495;487;495;397;495;495	ENSP00000377990:D495Y;ENSP00000354207:D495Y;ENSP00000350356:D487Y;ENSP00000347397:D495Y;ENSP00000437773:D397Y;ENSP00000444673:D495Y;ENSP00000318328:D495Y	ENSP00000318328:D495Y	D	-	1	0	NTRK3	86377194	1.000000	0.71417	0.581000	0.28614	0.193000	0.23685	5.575000	0.67430	1.209000	0.43321	0.650000	0.86243	GAT		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
ACAN	176	broad.mit.edu	37	15	89398459	89398459	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89398459C>A	ENST00000561243.1	+	11	2643	c.2643C>A	c.(2641-2643)gaC>gaA	p.D881E	ACAN_ENST00000559004.1_Missense_Mutation_p.D881E|ACAN_ENST00000439576.2_Missense_Mutation_p.D881E|ACAN_ENST00000352105.7_Missense_Mutation_p.D881E			P16112	PGCA_HUMAN	aggrecan	880	CS-1.				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.D881E(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)			GACACCTTGACTTCAGTGGGC	0.607																																					p.D881E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2643A	15						.						60.0	67.0	65.0					15																	89398459		2012	4187	6199	87199463	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2643C>A	15.37:g.89398459C>A	ENSP00000453342:p.Asp881Glu		87199463	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241015	0.39598	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01787	4.82;4.64	5.51	-1.3	0.09259	.	0.000000	0.34507	N	0.003916	T	0.02494	0.0076	L	0.48642	1.525	0.09310	N	1	D;D	0.65815	0.992;0.995	P;D	0.63033	0.779;0.91	T	0.37407	-0.9707	10	0.02654	T	1	-14.971	1.0257	0.01527	0.1711:0.3572:0.1977:0.274	.	881;881	E7ENV9;E7EX88	.;.	E	881	ENSP00000387356:D881E;ENSP00000341615:D881E	ENSP00000268134:D881E	D	+	3	2	ACAN	87199463	0.000000	0.05858	0.000000	0.03702	0.925000	0.55904	-0.316000	0.08071	0.081000	0.16988	0.655000	0.94253	GAC		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
ACAN	176	broad.mit.edu	37	15	89400441	89400441	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89400441T>G	ENST00000561243.1	+	11	4625	c.4625T>G	c.(4624-4626)tTt>tGt	p.F1542C	ACAN_ENST00000559004.1_Missense_Mutation_p.F1542C|ACAN_ENST00000439576.2_Missense_Mutation_p.F1542C|ACAN_ENST00000352105.7_Missense_Mutation_p.F1542C			P16112	PGCA_HUMAN	aggrecan	1574	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.F1428C(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)			GCCTCTGGATTTGGGGACCTC	0.532																																					p.F1542C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4625G	15						.						43.0	45.0	44.0					15																	89400441		1828	4081	5909	87201445	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4625T>G	15.37:g.89400441T>G	ENSP00000453342:p.Phe1542Cys		87201445	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247837	0.22880	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.94758	-3.51;-3.51	4.27	-0.823	0.10815	.	.	.	.	.	D	0.90851	0.7126	N	0.22421	0.69	0.09310	N	1	D;D	0.61697	0.99;0.963	P;P	0.57776	0.827;0.719	T	0.81906	-0.0718	9	0.44086	T	0.13	0.3036	1.2111	0.01905	0.1713:0.3588:0.1762:0.2938	.	1542;1542	E7ENV9;E7EX88	.;.	C	1542;1542;1428	ENSP00000387356:F1542C;ENSP00000341615:F1542C	ENSP00000268134:F1428C	F	+	2	0	ACAN	87201445	0.004000	0.15560	0.000000	0.03702	0.017000	0.09413	-0.727000	0.04931	-0.032000	0.13758	0.260000	0.18958	TTT		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
ACAN	176	broad.mit.edu	37	15	89400807	89400807	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89400807C>T	ENST00000561243.1	+	11	4991	c.4991C>T	c.(4990-4992)tCt>tTt	p.S1664F	ACAN_ENST00000559004.1_Missense_Mutation_p.S1664F|ACAN_ENST00000439576.2_Missense_Mutation_p.S1664F|ACAN_ENST00000352105.7_Missense_Mutation_p.S1664F			P16112	PGCA_HUMAN	aggrecan	1719	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S1550F(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)			CTAGTGGATTCTACATTGGTG	0.542																																					p.S1664F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4991T	15						.						140.0	141.0	141.0					15																	89400807		1969	4137	6106	87201811	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4991C>T	15.37:g.89400807C>T	ENSP00000453342:p.Ser1664Phe		87201811	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225731	0.58668	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02812	4.39;4.15	5.86	4.92	0.64577	.	0.518738	0.14513	N	0.315003	T	0.08179	0.0204	L	0.27053	0.805	0.20975	N	0.999818	D;D	0.69078	0.994;0.997	P;D	0.64042	0.885;0.921	T	0.31668	-0.9935	10	0.72032	D	0.01	-2.5622	15.6936	0.77477	0.0:0.8582:0.1418:0.0	.	1664;1664	E7ENV9;E7EX88	.;.	F	1664;1664;1550	ENSP00000387356:S1664F;ENSP00000341615:S1664F	ENSP00000268134:S1550F	S	+	2	0	ACAN	87201811	0.164000	0.22935	0.191000	0.23289	0.989000	0.77384	1.721000	0.38032	1.439000	0.47511	0.655000	0.94253	TCT		0.542	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
MFGE8	4240	broad.mit.edu	37	15	89442929	89442929	+	Silent	SNP	C	C	T	rs369704324		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89442929C>T	ENST00000566497.1	-	7	1045	c.984G>A	c.(982-984)gcG>gcA	p.A328A	MFGE8_ENST00000542878.1_Silent_p.A284A|MFGE8_ENST00000268150.8_Silent_p.A328A|MFGE8_ENST00000539437.1_Silent_p.A320A|MFGE8_ENST00000268151.7_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	328	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)	p.A328A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGTCCAGTTCGCACTGTCAT	0.562																																					p.A328A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|stomach(1)	c.G984A	15						.	C	,	0,4400		0,0,2200	106.0	89.0	95.0		,984	3.1	0.0	15		95	1,8597	1.2+/-3.3	0,1,4298	no	intron,coding-synonymous	MFGE8	NM_001114614.1,NM_005928.2	,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,	,328/388	89442929	1,12997	2200	4299	6499	87243933	SO:0001819	synonymous_variant	4240	exon7			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.984G>A	15.37:g.89442929C>T			87243933	NM_005928	B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Silent	SNP	ENST00000566497.1	37	CCDS10347.1																																																																																				0.562	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928	
ABHD2	11057	broad.mit.edu	37	15	89695047	89695047	+	Missense_Mutation	SNP	G	G	A	rs373748122		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89695047G>A	ENST00000352732.5	+	4	854	c.334G>A	c.(334-336)Gac>Aac	p.D112N	ABHD2_ENST00000355100.3_Missense_Mutation_p.D112N|ABHD2_ENST00000565973.1_Missense_Mutation_p.D112N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	112					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.D112N(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCTACATTCGACCTCTTCGA	0.522																																					p.D112N	Colon(11;252 417 24570 33239 41878)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	15						.	G	ASN/ASP,ASN/ASP	0,4400		0,0,2200	229.0	192.0	204.0		334,334	5.7	1.0	15		204	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ABHD2	NM_007011.7,NM_152924.4	23,23	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	112/426,112/426	89695047	1,12997	2200	4299	6499	87496051	SO:0001583	missense	11057	exon4			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.334G>A	15.37:g.89695047G>A	ENSP00000268129:p.Asp112Asn		87496051	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	G	36	5.932554	0.97116	0.0	1.16E-4	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.41400	1.0;1.0	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.67998	0.2953	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.70561	-0.4838	10	0.72032	D	0.01	-0.2168	19.7219	0.96145	0.0:0.0:1.0:0.0	.	112	P08910	ABHD2_HUMAN	N	112	ENSP00000268129:D112N;ENSP00000347217:D112N	ENSP00000268129:D112N	D	+	1	0	ABHD2	87496051	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.502000	0.97981	2.648000	0.89879	0.655000	0.94253	GAC		0.522	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
RLBP1	6017	broad.mit.edu	37	15	89753629	89753629	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89753629C>T	ENST00000268125.5	-	9	1280	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	281	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.D281N(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	ATGTTCTCATCGATCTCCTGG	0.577																																					p.D281N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G841A	15						.						77.0	73.0	74.0					15																	89753629		2200	4299	6499	87554633	SO:0001583	missense	6017	exon9			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.841G>A	15.37:g.89753629C>T	ENSP00000268125:p.Asp281Asn		87554633	NM_000326	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519086	0.27211	.	.	ENSG00000140522	ENST00000268125	D	0.86030	-2.06	5.21	4.29	0.51040	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	L	0.52126	1.63	0.80722	D	1	P	0.35208	0.49	B	0.26094	0.066	T	0.76030	-0.3108	10	0.30854	T	0.27	-5.3024	14.0021	0.64439	0.0:0.9267:0.0:0.0733	.	281	P12271	RLBP1_HUMAN	N	281	ENSP00000268125:D281N	ENSP00000268125:D281N	D	-	1	0	RLBP1	87554633	1.000000	0.71417	0.042000	0.18584	0.921000	0.55340	5.751000	0.68720	1.204000	0.43247	0.555000	0.69702	GAT		0.577	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
RLBP1	6017	broad.mit.edu	37	15	89758460	89758460	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89758460T>G	ENST00000268125.5	-	6	795	c.356A>C	c.(355-357)aAt>aCt	p.N119T		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	119					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.N119T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CAGCCGGAAATTCACATAGCC	0.602																																					p.N119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A356C	15						.						72.0	66.0	68.0					15																	89758460		2200	4299	6499	87559464	SO:0001583	missense	6017	exon6			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.356A>C	15.37:g.89758460T>G	ENSP00000268125:p.Asn119Thr		87559464	NM_000326	B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861544	0.32884	.	.	ENSG00000140522	ENST00000268125	D	0.87412	-2.25	4.65	4.65	0.58169	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.255320	0.45867	D	0.000325	T	0.76069	0.3936	N	0.25286	0.73	0.47621	D	0.999478	B	0.06786	0.001	B	0.06405	0.002	T	0.69281	-0.5186	10	0.05351	T	0.99	-15.3256	14.3736	0.66857	0.0:0.0:0.0:1.0	.	119	P12271	RLBP1_HUMAN	T	119	ENSP00000268125:N119T	ENSP00000268125:N119T	N	-	2	0	RLBP1	87559464	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.121000	0.41977	1.874000	0.54306	0.459000	0.35465	AAT		0.602	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326	
FANCI	55215	broad.mit.edu	37	15	89817416	89817416	+	Missense_Mutation	SNP	G	G	T	rs146916445		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89817416G>T	ENST00000310775.7	+	12	1079	c.993G>T	c.(991-993)aaG>aaT	p.K331N	FANCI_ENST00000300027.8_Missense_Mutation_p.K331N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	331					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.K331N(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCTTTTAAAGACTTCGGTTG	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.K331N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G993T	15						.						39.0	35.0	36.0					15																	89817416		2182	4274	6456	87618420	SO:0001583	missense	55215	exon12	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.993G>T	15.37:g.89817416G>T	ENSP00000310842:p.Lys331Asn		87618420	NM_018193	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862093	0.32884	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.74106	-0.8;-0.81;-0.08	5.26	-0.304	0.12788	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	M	0.77103	2.36	0.48040	D	0.999577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.996	T	0.81134	-0.1071	10	0.72032	D	0.01	-15.0388	9.3998	0.38426	0.6151:0.0:0.3849:0.0	.	331;331;331	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	N	331	ENSP00000300027:K331N;ENSP00000310842:K331N;ENSP00000413249:K331N	ENSP00000300027:K331N	K	+	3	2	FANCI	87618420	1.000000	0.71417	0.251000	0.24312	0.360000	0.29518	1.225000	0.32551	-0.002000	0.14469	-0.253000	0.11424	AAG		0.294	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	
FANCI	55215	broad.mit.edu	37	15	89834855	89834855	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:89834855C>A	ENST00000310775.7	+	20	1988	c.1902C>A	c.(1900-1902)ttC>ttA	p.F634L	FANCI_ENST00000300027.8_Missense_Mutation_p.F634L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	634					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.F634L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAAAACAGTTCTATGAGCCAA	0.358								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.F634L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1902A	15						.						125.0	132.0	130.0					15																	89834855		2200	4299	6499	87635859	SO:0001583	missense	55215	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1902C>A	15.37:g.89834855C>A	ENSP00000310842:p.Phe634Leu		87635859	NM_018193	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382377	0.42207	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.51071	0.72;0.72;0.72	5.7	1.03	0.20045	.	0.207947	0.52532	D	0.000071	T	0.45094	0.1325	L	0.47716	1.5	0.80722	D	1	P;B;B	0.41232	0.743;0.164;0.259	P;B;B	0.47430	0.547;0.047;0.047	T	0.23655	-1.0182	10	0.33141	T	0.24	-4.2718	10.0583	0.42259	0.0:0.4873:0.0:0.5127	.	634;634;634	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	L	634	ENSP00000300027:F634L;ENSP00000310842:F634L;ENSP00000413249:F634L	ENSP00000300027:F634L	F	+	3	2	FANCI	87635859	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	0.569000	0.23638	0.295000	0.22570	0.655000	0.94253	TTC		0.358	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	
TICRR	90381	broad.mit.edu	37	15	90135404	90135404	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90135404T>G	ENST00000268138.7	+	5	1643	c.1538T>G	c.(1537-1539)tTt>tGt	p.F513C	TICRR_ENST00000560985.1_Missense_Mutation_p.F512C|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	513					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.F513C(1)									ATGGAGTCATTTGGGTAAAAC	0.398																																					p.F513C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1538G	15						.						125.0	116.0	119.0					15																	90135404		1928	4141	6069	87936408	SO:0001583	missense	90381	exon5			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1538T>G	15.37:g.90135404T>G	ENSP00000268138:p.Phe513Cys		87936408	NM_152259	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	T	21.4	4.148277	0.78001	.	.	ENSG00000140534	ENST00000268138	T	0.31769	1.48	5.25	5.25	0.73442	.	0.212508	0.48286	D	0.000185	T	0.54382	0.1855	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58674	-0.7595	10	0.87932	D	0	-18.1487	15.1574	0.72755	0.0:0.0:0.0:1.0	.	513	Q7Z2Z1	TICRR_HUMAN	C	513	ENSP00000268138:F513C	ENSP00000268138:F513C	F	+	2	0	C15orf42	87936408	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.979000	0.76154	1.993000	0.58246	0.402000	0.26972	TTT		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
KIF7	374654	broad.mit.edu	37	15	90172756	90172756	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90172756C>T	ENST00000394412.3	-	17	3443	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1123					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E610K(1)|p.E1123K(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ATCTCCAGTTCCGAGAAGGCA	0.637																																					p.E1123K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3367A	15						.						77.0	73.0	74.0					15																	90172756		2200	4299	6499	87973760	SO:0001583	missense	374654	exon17			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3367G>A	15.37:g.90172756C>T	ENSP00000377934:p.Glu1123Lys		87973760	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	31	5.090630	0.94149	.	.	ENSG00000166813	ENST00000394412	T	0.75367	-0.93	5.06	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.81914	0.995;0.723	D	0.85916	0.1443	10	0.72032	D	0.01	.	15.4947	0.75641	0.0:0.8609:0.1391:0.0	.	609;1123	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	1123	ENSP00000377934:E1123K	ENSP00000377934:E1123K	E	-	1	0	KIF7	87973760	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.548000	0.82154	1.330000	0.45394	0.462000	0.41574	GAA		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
KIF7	374654	broad.mit.edu	37	15	90177036	90177036	+	Missense_Mutation	SNP	C	C	T	rs558861570		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90177036C>T	ENST00000394412.3	-	12	2549	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	825					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E825K(1)|p.E312K(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACGTTCCGCTCGAGCTCCTGC	0.632																																					p.E825K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2473A	15						.						51.0	48.0	49.0					15																	90177036		2200	4299	6499	87978040	SO:0001583	missense	374654	exon12			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2473G>A	15.37:g.90177036C>T	ENSP00000377934:p.Glu825Lys		87978040	NM_198525	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	C	34	5.340223	0.95783	.	.	ENSG00000166813	ENST00000394412	T	0.52526	0.66	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.72520	-0.4268	10	0.48119	T	0.1	.	18.5338	0.91001	0.0:1.0:0.0:0.0	.	311;825	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	825	ENSP00000377934:E825K	ENSP00000377934:E825K	E	-	1	0	KIF7	87978040	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	7.712000	0.84684	2.378000	0.81104	0.491000	0.48974	GAG		0.632	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
PLIN1	5346	broad.mit.edu	37	15	90213334	90213334	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90213334C>A	ENST00000300055.5	-	5	640	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	PLIN1_ENST00000430628.2_Missense_Mutation_p.D159Y	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	159					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.D159Y(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TCCGCAGTGTCTCTGGCCACC	0.627																																					p.D159Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475T	15						.						35.0	36.0	36.0					15																	90213334		2200	4299	6499	88014338	SO:0001583	missense	5346	exon5			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.475G>T	15.37:g.90213334C>A	ENSP00000300055:p.Asp159Tyr		88014338	NM_002666	Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253256	0.59212	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.05925	3.37;3.37	5.21	5.21	0.72293	.	0.438855	0.22814	N	0.055307	T	0.19765	0.0475	M	0.63428	1.95	0.28391	N	0.919086	D	0.67145	0.996	D	0.67900	0.954	T	0.01496	-1.1340	10	0.66056	D	0.02	-30.1	11.8385	0.52340	0.0:0.9139:0.0:0.0861	.	159	O60240	PLIN1_HUMAN	Y	159	ENSP00000300055:D159Y;ENSP00000402167:D159Y	ENSP00000300055:D159Y	D	-	1	0	PLIN1	88014338	0.833000	0.29383	0.989000	0.46669	0.673000	0.39480	1.861000	0.39438	2.439000	0.82584	0.305000	0.20034	GAC		0.627	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666	
PEX11A	8800	broad.mit.edu	37	15	90226610	90226610	+	Nonstop_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90226610A>C	ENST00000300056.3	-	3	891	c.742T>G	c.(742-744)Tag>Gag	p.*248E	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000561257.1_Nonstop_Mutation_p.*217E|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	0					brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)	p.*248E(1)		endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAAACACCCTAACGGGTCTTC	0.443																																					p.X248E												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T742G	15						.						185.0	194.0	191.0					15																	90226610		2200	4299	6499	88027614	SO:0001578	stop_lost	8800	exon3			AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.742T>G	15.37:g.90226610A>C	ENSP00000300056:p.*248Glnext*38		88027614	NM_003847	B4DV88	Nonstop_Mutation	SNP	ENST00000300056.3	37	CCDS10354.1	.	.	.	.	.	.	.	.	.	.	A	6.530	0.466068	0.12402	.	.	ENSG00000166821	ENST00000300056	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.26692	N	0.971334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4119	0.49931	1.0:0.0:0.0:0.0	.	.	.	.	E	248	.	.	X	-	1	0	PEX11A	88027614	0.210000	0.23517	0.024000	0.17045	0.210000	0.24377	2.162000	0.42367	2.188000	0.69820	0.533000	0.62120	TAG		0.443	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313420.1	NM_003847	
WDR93	56964	broad.mit.edu	37	15	90255298	90255298	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90255298C>A	ENST00000268130.7	+	5	704	c.603C>A	c.(601-603)atC>atA	p.I201I	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Silent_p.I201I	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	201					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.I201I(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGATGGAGATCTCTCAAGGAG	0.403																																					p.I201I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603A	15						.						86.0	86.0	86.0					15																	90255298		2200	4299	6499	88056302	SO:0001819	synonymous_variant	56964	exon5				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.603C>A	15.37:g.90255298C>A			88056302	NM_020212	Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	CCDS32326.1																																																																																				0.403	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
WDR93	56964	broad.mit.edu	37	15	90286527	90286527	+	Missense_Mutation	SNP	C	C	T	rs189442055		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90286527C>T	ENST00000268130.7	+	17	2067	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	WDR93_ENST00000444934.2_Missense_Mutation_p.R373W|WDR93_ENST00000560294.1_Missense_Mutation_p.R628W	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	656					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.R656W(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTCAGCTATCGGAAGCTGGA	0.582																																					p.R656W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1966T	15						.						61.0	67.0	65.0					15																	90286527		2200	4299	6499	88087531	SO:0001583	missense	56964	exon17				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1966C>T	15.37:g.90286527C>T	ENSP00000268130:p.Arg656Trp		88087531	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732567	0.48939	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.46819	1.86;0.86	3.71	2.76	0.32466	.	0.564637	0.15966	N	0.236031	T	0.37598	0.1009	N	0.22421	0.69	0.09310	N	1	D;D	0.67145	0.996;0.987	P;B	0.47573	0.55;0.319	T	0.16100	-1.0414	10	0.66056	D	0.02	-8.0276	9.2617	0.37616	0.0:0.7796:0.2204:0.0	.	628;656	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	W	656;373	ENSP00000268130:R656W;ENSP00000403871:R373W	ENSP00000268130:R656W	R	+	1	2	WDR93	88087531	0.116000	0.22171	0.267000	0.24556	0.010000	0.07245	0.223000	0.17719	1.125000	0.41998	0.456000	0.33151	CGG		0.582	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
ANPEP	290	broad.mit.edu	37	15	90342704	90342704	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90342704C>T	ENST00000300060.6	-	13	2219	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	636	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.E636K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CAGTTCTCTTCGTCGTAGTTC	0.587																																					p.E636K	NSCLC(30;827 977 2459 19669 26125)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1906A	15						.						138.0	123.0	128.0					15																	90342704		2200	4299	6499	88143708	SO:0001583	missense	290	exon13			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1906G>A	15.37:g.90342704C>T	ENSP00000300060:p.Glu636Lys		88143708	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601234	0.13939	.	.	ENSG00000166825	ENST00000300060	T	0.62788	-0.0	5.15	-0.669	0.11388	.	0.447569	0.21672	N	0.070849	T	0.46600	0.1401	L	0.56769	1.78	0.09310	N	1	P	0.36712	0.566	B	0.36666	0.23	T	0.43015	-0.9417	10	0.07482	T	0.82	.	5.7834	0.18320	0.1308:0.2962:0.4915:0.0815	.	636	P15144	AMPN_HUMAN	K	636	ENSP00000300060:E636K	ENSP00000300060:E636K	E	-	1	0	ANPEP	88143708	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-3.000000	0.00653	-0.073000	0.12842	-0.302000	0.09304	GAA		0.587	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
ARPIN	348110	broad.mit.edu	37	15	90447101	90447101	+	Missense_Mutation	SNP	G	G	A	rs201638212		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90447101G>A	ENST00000357484.5	-	4	536	c.416C>T	c.(415-417)gCg>gTg	p.A139V	C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A139V|C15orf38_ENST00000460685.1_Missense_Mutation_p.A43V	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		139					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)		p.A139V(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATCCAGAACGCCACTGTGTG	0.652																																					p.A139V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416T	15						.	G	VAL/ALA,VAL/ALA	0,4246		0,0,2123	63.0	71.0	69.0		416,416	5.5	1.0	15		69	2,8498		0,2,4248	yes	missense,missense	C15orf38,C15orf38-AP3S2	NM_001199058.1,NM_182616.2	64,64	0,2,6371	AA,AG,GG		0.0235,0.0,0.0157	probably-damaging,probably-damaging	139/395,139/227	90447101	2,12744	2123	4250	6373	88248105	SO:0001583	missense	10239	exon4																														ENST00000357484.5:c.416C>T	15.37:g.90447101G>A	ENSP00000350075:p.Ala139Val		88248105	NM_182616	E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510876	0.85389	0.0	2.35E-4	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.48522	0.81	5.49	5.49	0.81192	.	0.000000	0.64402	U	0.000001	T	0.67906	0.2943	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70146	-0.4952	10	0.72032	D	0.01	-2.0036	16.865	0.86027	0.0:0.0:1.0:0.0	.	139;139	Q7Z6K5;E2QRD5	CO038_HUMAN;.	V	139	ENSP00000381377:A139V	ENSP00000381377:A139V	A	-	2	0	C15orf38-AP3S2;C15orf38	88248105	1.000000	0.71417	0.954000	0.39281	0.396000	0.30629	6.293000	0.72731	2.583000	0.87209	0.579000	0.79373	GCG		0.652	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1		
ZNF710	374655	broad.mit.edu	37	15	90611795	90611795	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90611795C>A	ENST00000268154.4	+	2	1677	c.1426C>A	c.(1426-1428)Cac>Aac	p.H476N		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H476N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CAGCCAGATTCACCACCTCAA	0.577																																					p.H476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1426A	15						.						199.0	182.0	188.0					15																	90611795		2200	4298	6498	88412799	SO:0001583	missense	374655	exon2			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1426C>A	15.37:g.90611795C>A	ENSP00000268154:p.His476Asn		88412799	NM_198526	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403763	0.42613	.	.	ENSG00000140548	ENST00000268154	T	0.14766	2.48	5.46	5.46	0.80206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000009	T	0.22437	0.0541	N	0.16098	0.37	0.58432	D	0.999999	D	0.63880	0.993	D	0.74674	0.984	T	0.05084	-1.0907	10	0.38643	T	0.18	-42.1978	18.0678	0.89396	0.0:1.0:0.0:0.0	.	476	Q8N1W2	ZN710_HUMAN	N	476	ENSP00000268154:H476N	ENSP00000268154:H476N	H	+	1	0	ZNF710	88412799	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.635000	0.83286	2.840000	0.97914	0.655000	0.94253	CAC		0.577	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526	
TTLL13	440307	broad.mit.edu	37	15	90801366	90801366	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90801366C>A	ENST00000339615.5	+	9	1322	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	TTLL13_ENST00000438251.1_Silent_p.I344I|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13									p.I344I(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAACCATCATCTCAGCCCATT	0.493																																					p.I344I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032A	15						.						284.0	243.0	257.0					15																	90801366		2199	4298	6497	88602370	SO:0001819	synonymous_variant	440307	exon9			BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1032C>A	15.37:g.90801366C>A			88602370	NM_001029964		Silent	SNP	ENST00000339615.5	37	CCDS32328.1																																																																																				0.493	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435854.1	NM_001029964	
ZNF774	342132	broad.mit.edu	37	15	90904163	90904163	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90904163G>T	ENST00000354377.3	+	4	1286	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R367I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACGCACCAAAGAACACACACA	0.498																																					p.R367I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100T	15						.						88.0	86.0	87.0					15																	90904163		2199	4298	6497	88705167	SO:0001583	missense	342132	exon4			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1100G>T	15.37:g.90904163G>T	ENSP00000346348:p.Arg367Ile		88705167	NM_001004309	A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765385	0.69878	.	.	ENSG00000196391	ENST00000354377	T	0.02446	4.29	5.22	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39146	N	0.001454	T	0.08714	0.0216	L	0.58101	1.795	0.80722	D	1	D	0.56968	0.978	P	0.56474	0.799	T	0.02358	-1.1171	10	0.72032	D	0.01	.	11.319	0.49410	0.0893:0.0:0.9107:0.0	.	367	Q6NX45	ZN774_HUMAN	I	367	ENSP00000346348:R367I	ENSP00000346348:R367I	R	+	2	0	ZNF774	88705167	0.909000	0.30893	0.949000	0.38748	0.595000	0.36748	4.539000	0.60657	1.199000	0.43173	0.561000	0.74099	AGA		0.498	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309	
ZNF774	342132	broad.mit.edu	37	15	90904331	90904331	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90904331G>A	ENST00000354377.3	+	4	1454	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R423Q(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACCCATCAGCGAATCCACTTA	0.493																																					p.R423Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1268A	15						.						76.0	71.0	72.0					15																	90904331		2199	4298	6497	88705335	SO:0001583	missense	342132	exon4			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1268G>A	15.37:g.90904331G>A	ENSP00000346348:p.Arg423Gln		88705335	NM_001004309	A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199969	0.58126	.	.	ENSG00000196391	ENST00000354377	T	0.24723	1.84	5.31	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31472	N	0.007586	T	0.41834	0.1176	L	0.51422	1.61	0.42084	D	0.991265	D	0.89917	1.0	D	0.79108	0.992	T	0.25950	-1.0117	10	0.72032	D	0.01	.	9.6798	0.40063	0.1405:0.0:0.8595:0.0	.	423	Q6NX45	ZN774_HUMAN	Q	423	ENSP00000346348:R423Q	ENSP00000346348:R423Q	R	+	2	0	ZNF774	88705335	0.029000	0.19370	0.001000	0.08648	0.576000	0.36127	2.048000	0.41278	0.861000	0.35504	0.655000	0.94253	CGA		0.493	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309	
IQGAP1	8826	broad.mit.edu	37	15	90977000	90977000	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90977000G>T	ENST00000268182.5	+	5	564	c.440G>T	c.(439-441)aGa>aTa	p.R147I	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	147	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.R147I(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AACATGCCAAGATGTATCTAC	0.328																																					p.R147I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440T	15						.						122.0	121.0	121.0					15																	90977000		2198	4298	6496	88778004	SO:0001583	missense	8826	exon5			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.440G>T	15.37:g.90977000G>T	ENSP00000268182:p.Arg147Ile		88778004	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379766	0.82682	.	.	ENSG00000140575	ENST00000268182	D	0.95001	-3.58	5.28	5.28	0.74379	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98087	1.0407	10	0.87932	D	0	-17.9682	18.0822	0.89444	0.0:0.0:1.0:0.0	.	147	P46940	IQGA1_HUMAN	I	147	ENSP00000268182:R147I	ENSP00000268182:R147I	R	+	2	0	IQGAP1	88778004	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.503000	0.66962	2.744000	0.94065	0.655000	0.94253	AGA		0.328	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQGAP1	8826	broad.mit.edu	37	15	90996012	90996012	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:90996012G>A	ENST00000268182.5	+	12	1292	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	390					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.A390T(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CACAGGATTGGCAGCAGTAGC	0.488																																					p.A390T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168A	15						.						71.0	71.0	71.0					15																	90996012		2198	4298	6496	88797016	SO:0001583	missense	8826	exon12			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1168G>A	15.37:g.90996012G>A	ENSP00000268182:p.Ala390Thr		88797016	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	4.631	0.117309	0.08881	.	.	ENSG00000140575	ENST00000268182	T	0.06768	3.26	5.17	3.3	0.37823	.	0.414323	0.26923	N	0.021812	T	0.07593	0.0191	L	0.47016	1.485	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.21861	-1.0233	10	0.16896	T	0.51	-3.491	8.5999	0.33738	0.2338:0.0:0.7662:0.0	.	390	P46940	IQGA1_HUMAN	T	390	ENSP00000268182:A390T	ENSP00000268182:A390T	A	+	1	0	IQGAP1	88797016	1.000000	0.71417	0.626000	0.29213	0.083000	0.17756	2.288000	0.43514	0.756000	0.33013	0.655000	0.94253	GCA		0.488	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQGAP1	8826	broad.mit.edu	37	15	91035934	91035934	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91035934G>T	ENST00000268182.5	+	35	4743	c.4619G>T	c.(4618-4620)aGc>aTc	p.S1540I	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S968I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1540	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.S1540I(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AACTTAGCCAGCAAGGGCAAG	0.383																																					p.S1540I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4619T	15						.						51.0	51.0	51.0					15																	91035934		2198	4298	6496	88836938	SO:0001583	missense	8826	exon35			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4619G>T	15.37:g.91035934G>T	ENSP00000268182:p.Ser1540Ile		88836938	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997572	0.54147	.	.	ENSG00000140575	ENST00000268182	T	0.48201	0.82	5.84	5.84	0.93424	RasGAP protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	L	0.39147	1.195	0.80722	D	1	B;B	0.18166	0.002;0.026	B;B	0.21708	0.01;0.036	T	0.21177	-1.0253	10	0.42905	T	0.14	-20.7874	19.1245	0.93376	0.0:0.0:1.0:0.0	.	161;1540	B4DNP4;P46940	.;IQGA1_HUMAN	I	1540	ENSP00000268182:S1540I	ENSP00000268182:S1540I	S	+	2	0	IQGAP1	88836938	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.606000	0.67641	2.774000	0.95407	0.484000	0.47621	AGC		0.383	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
CRTC3	64784	broad.mit.edu	37	15	91181802	91181802	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91181802C>T	ENST00000268184.6	+	12	1395	c.1391C>T	c.(1390-1392)gCc>gTc	p.A464V	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.A464V			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	464					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.A464V(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCCCCGCGCCCCTGAGGCC	0.672			T	MAML2	salivary gland mucoepidermoid																																p.A464V			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1391T	15						.						40.0	46.0	44.0					15																	91181802		2198	4298	6496	88982806	SO:0001583	missense	64784	exon12				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1391C>T	15.37:g.91181802C>T	ENSP00000268184:p.Ala464Val		88982806	NM_022769	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	8.875	0.950229	0.18431	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11821	2.74;2.74	5.3	4.35	0.52113	.	0.822425	0.11580	N	0.549856	T	0.13457	0.0326	L	0.51422	1.61	0.09310	N	1	B;B	0.22414	0.041;0.069	B;B	0.21917	0.016;0.037	T	0.06935	-1.0799	10	0.35671	T	0.21	0.2464	7.466	0.27322	0.0:0.7436:0.1684:0.088	.	464;464	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	V	428;464;464	ENSP00000268184:A464V;ENSP00000416573:A464V	ENSP00000268184:A464V	A	+	2	0	CRTC3	88982806	0.290000	0.24343	0.687000	0.30102	0.026000	0.11368	0.693000	0.25497	2.775000	0.95449	0.650000	0.86243	GCC		0.672	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769	
BLM	641	broad.mit.edu	37	15	91292938	91292938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91292938C>A	ENST00000355112.3	+	3	558	c.440C>A	c.(439-441)tCt>tAt	p.S147Y	BLM_ENST00000560509.1_Missense_Mutation_p.S147Y	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	147					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.S147Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TCACCAGATTCTTTAAGTACC	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.S147Y		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440A	15						.						69.0	68.0	68.0					15																	91292938		2198	4298	6496	89093942	SO:0001583	missense	641	exon3	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.440C>A	15.37:g.91292938C>A	ENSP00000347232:p.Ser147Tyr		89093942	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565339	0.65651	.	.	ENSG00000197299	ENST00000355112	T	0.52754	0.65	5.54	5.54	0.83059	.	0.167618	0.45606	D	0.000348	T	0.67069	0.2854	M	0.73598	2.24	0.37988	D	0.933812	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.73113	-0.4085	10	0.87932	D	0	-16.7652	15.3668	0.74529	0.0:1.0:0.0:0.0	.	147;147	B2RAN0;P54132	.;BLM_HUMAN	Y	147	ENSP00000347232:S147Y	ENSP00000347232:S147Y	S	+	2	0	BLM	89093942	0.800000	0.28916	0.934000	0.37439	0.610000	0.37248	2.578000	0.46051	2.774000	0.95407	0.650000	0.86243	TCT		0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
RCCD1	91433	broad.mit.edu	37	15	91503594	91503594	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91503594G>T	ENST00000394258.2	+	6	1017	c.815G>T	c.(814-816)aGa>aTa	p.R272I	RCCD1_ENST00000555155.1_Missense_Mutation_p.R270I|RCCD1_ENST00000556618.1_Missense_Mutation_p.R272I	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	272						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R272I(1)		breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CAGGTGAAGAGAACGGGTGGG	0.517																																					p.R272I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G815T	15						.						73.0	75.0	74.0					15																	91503594		2198	4298	6496	89304598	SO:0001583	missense	91433	exon7				CCDS32333.1	15q26.1	2005-10-21	2005-10-21			ENSG00000166965			30457	protein-coding gene	gene with protein product						12477932	Standard	XM_006720763		Approved	MGC14386	uc002bqk.3	A6NED2		ENST00000394258.2:c.815G>T	15.37:g.91503594G>T	ENSP00000377801:p.Arg272Ile		89304598	NM_033544	B2RTP9|Q29RX6	Missense_Mutation	SNP	ENST00000394258.2	37	CCDS32333.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629592	0.28978	.	.	ENSG00000166965	ENST00000394258;ENST00000555155;ENST00000556618;ENST00000556333	T;T;T	0.38240	1.15;1.18;1.15	4.82	-0.511	0.11970	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.403040	0.03833	N	0.269310	T	0.31702	0.0805	M	0.62723	1.935	0.09310	N	1	B;B	0.25667	0.131;0.08	B;B	0.22152	0.038;0.017	T	0.11616	-1.0580	10	0.22706	T	0.39	.	2.91	0.05733	0.1254:0.2712:0.4491:0.1543	.	270;272	G3V2I3;A6NED2	.;RCCD1_HUMAN	I	272;270;272;61	ENSP00000377801:R272I;ENSP00000450678:R270I;ENSP00000451963:R272I	ENSP00000377801:R272I	R	+	2	0	RCCD1	89304598	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.038000	0.12144	0.085000	0.17107	0.555000	0.69702	AGA		0.517	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544	
PRC1	9055	broad.mit.edu	37	15	91513657	91513657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91513657G>A	ENST00000361188.5	-	12	2760	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	PRC1_ENST00000442656.2_Nonsense_Mutation_p.R476*|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Nonsense_Mutation_p.R517*|PRC1_ENST00000394249.3_Nonsense_Mutation_p.R517*|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1									p.R517*(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)					GGAGGAAGTCGAGACACGGGG	0.542																																					p.R517X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1549T	15						.						274.0	219.0	238.0					15																	91513657		2198	4298	6496	89314661	SO:0001587	stop_gained	9055	exon12			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.1549C>T	15.37:g.91513657G>A	ENSP00000354679:p.Arg517*		89314661	NM_003981		Nonsense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	48	14.279862	0.99788	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	.	.	.	6.16	3.27	0.37495	.	0.281465	0.33457	N	0.004886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1994	0.25873	0.1463:0.0:0.7143:0.1393	.	.	.	.	X	517;517;517;120;476	.	ENSP00000354679:R517X	R	-	1	2	PRC1	89314661	1.000000	0.71417	0.964000	0.40570	0.123000	0.20343	3.805000	0.55575	0.465000	0.27167	-0.145000	0.13849	CGA		0.542	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
SV2B	9899	broad.mit.edu	37	15	91795666	91795666	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:91795666G>A	ENST00000394232.1	+	4	1170	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SV2B_ENST00000330276.4_Missense_Mutation_p.E234K|SV2B_ENST00000545111.2_Missense_Mutation_p.E83K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	234					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.E234K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GAAGCGAGGAGAACACCTCAG	0.502																																					p.E234K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	15						.						113.0	103.0	107.0					15																	91795666		2198	4298	6496	89596670	SO:0001583	missense	9899	exon5			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.700G>A	15.37:g.91795666G>A	ENSP00000377779:p.Glu234Lys		89596670	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506632	0.96386	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.31476	0.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.51919	-0.8644	10	0.16420	T	0.52	-23.8897	18.0217	0.89257	0.0:0.0:1.0:0.0	.	234	Q7L1I2	SV2B_HUMAN	K	83;234;234	ENSP00000443243:E83K;ENSP00000377779:E234K;ENSP00000332818:E234K	ENSP00000332818:E234K	E	+	1	0	SV2B	89596670	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.528000	0.98046	2.665000	0.90641	0.563000	0.77884	GAA		0.502	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
CHD2	1106	broad.mit.edu	37	15	93547887	93547887	+	Missense_Mutation	SNP	G	G	A	rs374157769		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:93547887G>A	ENST00000394196.4	+	34	5387	c.4319G>A	c.(4318-4320)cGa>cAa	p.R1440Q	CHD2_ENST00000557381.1_Missense_Mutation_p.R1440Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1440					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.R1440Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAATCAAAGCGATCTCAGGGT	0.433																																					p.R1440Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4319A	15						.						170.0	154.0	159.0					15																	93547887		2197	4298	6495	91348891	SO:0001583	missense	1106	exon34			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4319G>A	15.37:g.93547887G>A	ENSP00000377747:p.Arg1440Gln		91348891	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107375	0.56291	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;D	0.89875	4.34;-2.58	5.34	4.42	0.53409	.	0.000000	0.32015	U	0.006716	T	0.81721	0.4882	L	0.34521	1.04	0.80722	D	1	B;B	0.23490	0.052;0.086	B;B	0.12837	0.003;0.008	T	0.75470	-0.3306	10	0.13853	T	0.58	-5.4645	14.1743	0.65529	0.0726:0.0:0.9274:0.0	.	1440;1440	O14647;O14647-2	CHD2_HUMAN;.	Q	1440	ENSP00000377747:R1440Q;ENSP00000451366:R1440Q	ENSP00000377747:R1440Q	R	+	2	0	CHD2	91348891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	1.240000	0.43803	0.655000	0.94253	CGA		0.433	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
CHD2	1106	broad.mit.edu	37	15	93563317	93563317	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:93563317G>T	ENST00000394196.4	+	38	6050	c.4982G>T	c.(4981-4983)aGg>aTg	p.R1661M	CHD2_ENST00000557381.1_Missense_Mutation_p.R1661M	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1661					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.R1661M(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGAAGCGACAGGCACCATCAG	0.517																																					p.R1661M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4982T	15						.						129.0	101.0	111.0					15																	93563317		2197	4298	6495	91364321	SO:0001583	missense	1106	exon38			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4982G>T	15.37:g.93563317G>T	ENSP00000377747:p.Arg1661Met		91364321	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	33	5.239393	0.95240	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92199	-2.99;-2.93	5.61	5.61	0.85477	.	0.000000	0.30547	U	0.009393	D	0.94003	0.8079	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.99;0.995	D	0.94307	0.7542	10	0.59425	D	0.04	-23.896	19.6303	0.95699	0.0:0.0:1.0:0.0	.	1661;1661	O14647;O14647-2	CHD2_HUMAN;.	M	1661	ENSP00000377747:R1661M;ENSP00000451366:R1661M	ENSP00000377747:R1661M	R	+	2	0	CHD2	91364321	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.148000	0.94652	2.641000	0.89580	0.655000	0.94253	AGG		0.517	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
MCTP2	55784	broad.mit.edu	37	15	94882589	94882589	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:94882589G>T	ENST00000357742.4	+	4	708	c.708G>T	c.(706-708)aaG>aaT	p.K236N	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.K236N|MCTP2_ENST00000543482.1_Missense_Mutation_p.K236N	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	236	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.K236N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCATATATAAGAACTTGAACC	0.363																																					p.K236N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G708T	15						.						111.0	115.0	114.0					15																	94882589		2197	4298	6495	92683593	SO:0001583	missense	55784	exon4			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.708G>T	15.37:g.94882589G>T	ENSP00000350377:p.Lys236Asn		92683593	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199258	0.79015	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.09723	2.95;2.95;2.95	6.03	5.11	0.69529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.46157	1.445	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.953;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.999;0.867;1.0;1.0;0.999	T	0.00108	-1.2050	10	0.87932	D	0	.	14.4118	0.67119	0.0708:0.0:0.9292:0.0	.	236;236;236;236;236	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	N	236	ENSP00000438521:K236N;ENSP00000395109:K236N;ENSP00000350377:K236N	ENSP00000350377:K236N	K	+	3	2	MCTP2	92683593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.742000	0.55097	2.861000	0.98227	0.655000	0.94253	AAG		0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
IGF1R	3480	broad.mit.edu	37	15	99440115	99440115	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99440115C>A	ENST00000268035.6	+	4	1694	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Silent_p.L361L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	361					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.L361L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCAATTTGCTCATTAACATCC	0.463																																					p.L361L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1083A	15						.						120.0	103.0	109.0					15																	99440115		2197	4297	6494	97257638	SO:0001819	synonymous_variant	3480	exon4			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1083C>A	15.37:g.99440115C>A			97257638	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.463	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
IGF1R	3480	broad.mit.edu	37	15	99482585	99482585	+	Silent	SNP	C	C	T	rs375579623		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99482585C>T	ENST00000268035.6	+	18	4064	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	IGF1R_ENST00000558762.1_Silent_p.I1150I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.I1151I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CAGTCAAAATCGGAGGTGTGT	0.493																																					p.I1151I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3453T	15						.	C		0,4394		0,0,2197	139.0	129.0	133.0		3453	-8.9	0.4	15		133	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	IGF1R	NM_000875.3		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		1151/1368	99482585	1,12987	2197	4297	6494	97300108	SO:0001819	synonymous_variant	3480	exon18			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3453C>T	15.37:g.99482585C>T			97300108	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.493	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
PGPEP1L	145814	broad.mit.edu	37	15	99512682	99512682	+	Missense_Mutation	SNP	C	C	T	rs577639159		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99512682C>T	ENST00000378919.6	-	4	548	c.343G>A	c.(343-345)Gac>Aac	p.D115N	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.D61N|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	115							cysteine-type peptidase activity (GO:0008234)	p.D115N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						AAGATCACGTCGACACCCTCC	0.632																																					p.D115N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343A	15						.						119.0	121.0	121.0					15																	99512682		2190	4294	6484	97330205	SO:0001583	missense	145814	exon4				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.343G>A	15.37:g.99512682C>T	ENSP00000368199:p.Asp115Asn		97330205	NM_001102612	H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909249	0.33721	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.41400	1.0	4.37	2.35	0.29111	.	0.642985	0.14346	N	0.325435	T	0.39384	0.1076	L	0.42686	1.345	0.09310	N	1	B	0.19583	0.037	B	0.24701	0.055	T	0.45963	-0.9225	10	0.66056	D	0.02	-12.2741	15.6029	0.76639	0.0:0.723:0.277:0.0	.	115	A6NFU8	PGPIL_HUMAN	N	115;108	ENSP00000368199:D115N	ENSP00000368199:D115N	D	-	1	0	PGPEP1L	97330205	0.055000	0.20627	0.003000	0.11579	0.002000	0.02628	2.088000	0.41663	1.035000	0.39972	0.655000	0.94253	GAC		0.632	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2	
SYNM	23336	broad.mit.edu	37	15	99671320	99671320	+	Missense_Mutation	SNP	G	G	A	rs376246829		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99671320G>A	ENST00000560674.1	+	4	2366	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.E918K|SYNM_ENST00000328642.7_Missense_Mutation_p.E918K			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	919	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E918K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATTTCATGCCGAACCCACAGT	0.537																																					p.P918P	Pancreas(125;1071 1762 21750 40003 40381)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2754A	15						.	G	LYS/GLU,LYS/GLU	1,3813		0,1,1906	33.0	34.0	34.0		2754,2754	4.8	0.0	15		34	0,8232		0,0,4116	no	missense,missense	SYNM	NM_145728.2,NM_015286.5	56,56	0,1,6022	AA,AG,GG		0.0,0.0262,0.0083	benign,benign	919/1566,919/1254	99671320	1,12045	1907	4116	6023	97488843	SO:0001583	missense	23336	exon4			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1897G>A	15.37:g.99671320G>A	ENSP00000453040:p.Glu633Lys		97488843	NM_015286	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37		.	.	.	.	.	.	.	.	.	.	G	14.86	2.661171	0.47572	2.62E-4	0.0	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.85702	-1.95;-2.02	5.76	4.85	0.62838	.	.	.	.	.	T	0.77691	0.4168	.	.	.	0.09310	N	1	B;B	0.34255	0.225;0.445	B;B	0.23150	0.032;0.044	T	0.68996	-0.5262	8	0.52906	T	0.07	.	13.9218	0.63937	0.0725:0.0:0.9275:0.0	.	919;918	O15061;C9JIE4	SYNEM_HUMAN;.	K	918	ENSP00000336775:E918K;ENSP00000330469:E918K	ENSP00000330469:E918K	E	+	1	0	SYNM	97488843	1.000000	0.71417	0.004000	0.12327	0.868000	0.49771	5.490000	0.66881	1.439000	0.47511	0.655000	0.94253	GAA		0.537	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
SYNM	23336	broad.mit.edu	37	15	99672721	99672721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99672721G>T	ENST00000336292.6	+	5	4273	c.4153G>T	c.(4153-4155)Gag>Tag	p.E1385*	SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1386	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E1385*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGATAGTGCAGAGGACACATC	0.493																																					p.Q1385H	Pancreas(125;1071 1762 21750 40003 40381)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4155T	15						.						194.0	188.0	190.0					15																	99672721		1978	4166	6144	97490244	SO:0001587	stop_gained	23336	exon4			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4153G>T	15.37:g.99672721G>T	ENSP00000336775:p.Glu1385*		97490244	NM_145728	A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000336292.6	37		.	.	.	.	.	.	.	.	.	.	G	42	9.200560	0.99098	.	.	ENSG00000182253	ENST00000336292	.	.	.	5.42	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.9753	0.24672	0.1585:0.1427:0.6988:0.0	.	.	.	.	X	1385	.	ENSP00000336775:E1385X	E	+	1	0	SYNM	97490244	0.053000	0.20554	0.001000	0.08648	0.005000	0.04900	1.269000	0.33074	0.606000	0.29965	0.655000	0.94253	GAG		0.493	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728	
LRRC28	123355	broad.mit.edu	37	15	99926274	99926274	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:99926274C>T	ENST00000301981.3	+	10	1311	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	LRRC28_ENST00000422500.2_Silent_p.T288T|LRRC28_ENST00000447360.2_Missense_Mutation_p.P304L|LRRC28_ENST00000331450.5_Silent_p.T83T|LRRC28_ENST00000558879.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	357								p.T357T(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCTGCTCCACCCAGTGTCTGC	0.488																																					p.T357T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1071T	15						.						321.0	324.0	323.0					15																	99926274		2197	4297	6494	97743797	SO:0001819	synonymous_variant	123355	exon10			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1071C>T	15.37:g.99926274C>T			97743797	NM_144598	A8KA22|Q6UY49|Q6ZSS6	Silent	SNP	ENST00000301981.3	37	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367177	0.41902	.	.	ENSG00000168904	ENST00000447360	T	0.40476	1.03	5.6	1.54	0.23209	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05370	-1.0889	8	0.25106	T	0.35	.	6.2868	0.21037	0.1303:0.659:0.0:0.2107	.	304	Q86X40-2	.	L	304	ENSP00000404520:P304L	ENSP00000404520:P304L	P	+	2	0	LRRC28	97743797	1.000000	0.71417	0.998000	0.56505	1.000000	0.99986	1.237000	0.32695	0.032000	0.15435	0.655000	0.94253	CCC		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598	
MEF2A	4205	broad.mit.edu	37	15	100230589	100230589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:100230589C>T	ENST00000557785.1	+	8	1163	c.814C>T	c.(814-816)Cga>Tga	p.R272*	MEF2A_ENST00000557942.1_Nonsense_Mutation_p.R272*|MEF2A_ENST00000453228.2_Nonsense_Mutation_p.R272*|MEF2A_ENST00000354410.5_Nonsense_Mutation_p.R274*|MEF2A_ENST00000558812.1_Nonsense_Mutation_p.R204*|MEF2A_ENST00000449277.2_Nonsense_Mutation_p.R204*|MEF2A_ENST00000338042.6_Nonsense_Mutation_p.R272*	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	274	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.R274*(2)|p.R272*(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ACCAGATCTTCGAGTTGTCAT	0.433																																					p.R274X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C820T	15						.						61.0	59.0	60.0					15																	100230589		1898	4116	6014	98048112	SO:0001587	stop_gained	4205	exon8				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.814C>T	15.37:g.100230589C>T	ENSP00000453441:p.Arg272*		98048112	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Nonsense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.331825	0.98217	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	.	.	.	5.85	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2928	16.3198	0.82945	0.1335:0.8665:0.0:0.0	.	.	.	.	X	272;274;272;204	.	ENSP00000337202:R272X	R	+	1	2	MEF2A	98048112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.721000	0.54941	1.458000	0.47871	-0.188000	0.12872	CGA		0.433	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
LYSMD4	145748	broad.mit.edu	37	15	100269604	100269604	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:100269604C>T	ENST00000409796.1	-	3	677	c.615G>A	c.(613-615)ccG>ccA	p.P205P	LYSMD4_ENST00000344791.2_Silent_p.P206P|LYSMD4_ENST00000545021.1_Silent_p.P79P|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Silent_p.P205P	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	205						integral component of membrane (GO:0016021)		p.P206P(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TAGGCGTCTTCGGAGGTGCCG	0.483																																					p.P206P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G618A	15						.						125.0	120.0	122.0					15																	100269604		2203	4300	6503	98087127	SO:0001819	synonymous_variant	145748	exon6			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.615G>A	15.37:g.100269604C>T			98087127	NM_152449	A6NII6|A8K2N1|Q96LY7	Silent	SNP	ENST00000409796.1	37																																																																																					0.483	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449	
ADAMTS17	170691	broad.mit.edu	37	15	100739575	100739575	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:100739575C>T	ENST00000268070.4	-	8	1234	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E377K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATTGTCTTCGGCAAGCACA	0.488																																					p.E377K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1129A	15						.						305.0	245.0	265.0					15																	100739575		2203	4300	6503	98557098	SO:0001583	missense	170691	exon8			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1129G>A	15.37:g.100739575C>T	ENSP00000268070:p.Glu377Lys		98557098	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503884	0.96371	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87571	-2.27	5.55	5.55	0.83447	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92873	0.6316	10	0.62326	D	0.03	.	19.5283	0.95215	0.0:1.0:0.0:0.0	.	134;377	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	K	377;134	ENSP00000268070:E377K	ENSP00000268070:E377K	E	-	1	0	ADAMTS17	98557098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.918000	0.75788	2.596000	0.87737	0.655000	0.94253	GAA		0.488	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
ADAMTS17	170691	broad.mit.edu	37	15	100794378	100794378	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:100794378A>T	ENST00000268070.4	-	7	1143	c.1038T>A	c.(1036-1038)gaT>gaA	p.D346E	ADAMTS17_ENST00000559976.1_5'UTR	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D346E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTACACAGAAATCTGTCCTAA	0.398																																					p.D346E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1038A	15						.						98.0	94.0	96.0					15																	100794378		2203	4300	6503	98611901	SO:0001583	missense	170691	exon7			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1038T>A	15.37:g.100794378A>T	ENSP00000268070:p.Asp346Glu		98611901	NM_139057	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025228	0.75390	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.90004	-2.6	5.47	1.43	0.22495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.060803	0.64402	N	0.000008	D	0.93324	0.7872	M	0.83692	2.655	0.41919	D	0.990502	D;D	0.89917	1.0;0.997	D;D	0.80764	0.978;0.994	D	0.92402	0.5930	10	0.72032	D	0.01	.	10.0935	0.42460	0.7681:0.0:0.2319:0.0	.	103;346	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	E	346;103	ENSP00000268070:D346E	ENSP00000268070:D346E	D	-	3	2	ADAMTS17	98611901	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.016000	0.49607	0.370000	0.24538	0.528000	0.53228	GAT		0.398	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
CERS3	204219	broad.mit.edu	37	15	101031058	101031058	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101031058C>A	ENST00000394113.1	-	6	942	c.252G>T	c.(250-252)gaG>gaT	p.E84D	CERS3_ENST00000538112.2_Missense_Mutation_p.E84D|CERS3_ENST00000284382.4_Missense_Mutation_p.E84D|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	84					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E84D(2)									TGAAAAAATTCTCTAAGACAG	0.303																																					p.E84D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G252T	15						.						111.0	110.0	110.0					15																	101031058		2203	4299	6502	98848581	SO:0001583	missense	204219	exon5				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.252G>T	15.37:g.101031058C>A	ENSP00000377672:p.Glu84Asp		98848581	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620296	0.87460	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.97791	-4.54;-4.54	5.53	5.53	0.82687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.89658	3.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99425	1.0934	10	0.87932	D	0	-22.871	15.3311	0.74212	0.0:1.0:0.0:0.0	.	84	Q8IU89	CERS3_HUMAN	D	84;95;84	ENSP00000284382:E84D;ENSP00000437640:E84D	ENSP00000284382:E84D	E	-	3	2	CERS3	98848581	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.111000	0.50360	2.763000	0.94921	0.563000	0.77884	GAG		0.303	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
LINS	55180	broad.mit.edu	37	15	101110321	101110321	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101110321C>A	ENST00000314742.8	-	7	1618	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	466								p.G466*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GCTTCACATCCTCTGAAAATG	0.333																																					p.G466X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1396T	15						.						52.0	52.0	52.0					15																	101110321		2200	4297	6497	98927844	SO:0001630	splice_region_variant	55180	exon7			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1395-1G>T	15.37:g.101110321C>A			98927844	NM_001040616	Q96FW2|Q9NVQ3	Nonsense_Mutation	SNP	ENST00000314742.8	37	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835246	0.91117	.	.	ENSG00000140471	ENST00000314742	.	.	.	5.39	1.14	0.20703	.	1.168720	0.06059	N	0.657987	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.7971	1.5991	0.02670	0.2372:0.4572:0.133:0.1726	.	.	.	.	X	466	.	ENSP00000318423:G466X	G	-	1	0	LINS	98927844	0.007000	0.16637	0.299000	0.25016	0.236000	0.25371	0.385000	0.20685	0.254000	0.21573	-0.140000	0.14226	GGA		0.333	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	Nonsense_Mutation
LINS	55180	broad.mit.edu	37	15	101114187	101114187	+	Silent	SNP	C	C	T	rs377158396		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101114187C>T	ENST00000314742.8	-	5	1113	c.891G>A	c.(889-891)agG>agA	p.R297R	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Silent_p.R297R|LINS_ENST00000560133.1_Silent_p.R178R	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	297								p.R297R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGATGACCTTCCTTTTAACAA	0.428																																					p.R297R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G891A	15						.	C		0,4406		0,0,2203	83.0	79.0	80.0		891	-0.0	0.8	15		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LINS	NM_001040616.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		297/758	101114187	1,13005	2203	4300	6503	98931710	SO:0001819	synonymous_variant	55180	exon5			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.891G>A	15.37:g.101114187C>T			98931710	NM_001040616	Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	CCDS10385.1																																																																																				0.428	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
ASB7	140460	broad.mit.edu	37	15	101169898	101169898	+	Silent	SNP	C	C	T	rs549056141		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101169898C>T	ENST00000332783.7	+	5	1253	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ASB7_ENST00000343276.4_Silent_p.L156L|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	156					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L156L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CGCTTCAGCTCGCCATTATCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20237	0.001		0.0	False		,,,				2504	0.0				p.L156L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	15						.						88.0	71.0	77.0					15																	101169898		2203	4300	6503	98987421	SO:0001819	synonymous_variant	140460	exon5				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.468C>T	15.37:g.101169898C>T			98987421	NM_024708	A8K1E5|Q6GSJ6|Q7Z4S3	Silent	SNP	ENST00000332783.7	37	CCDS10387.1																																																																																				0.532	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708	
ALDH1A3	220	broad.mit.edu	37	15	101440960	101440960	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101440960C>T	ENST00000329841.5	+	9	1596	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.P248L	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	355					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.P355L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GAACAGGGGCCTCAGGTAATC	0.582																																					p.P355L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1064T	15						.						37.0	39.0	38.0					15																	101440960		2203	4300	6503	99258483	SO:0001583	missense	220	exon9			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1064C>T	15.37:g.101440960C>T	ENSP00000332256:p.Pro355Leu		99258483	NM_000693	Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477523	0.63849	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	D	0.87029	-2.2	5.7	4.79	0.61399	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.976	D	0.98327	1.0531	10	0.87932	D	0	.	14.6588	0.68852	0.0:0.9304:0.0:0.0696	.	259;355	Q7Z3A2;P47895	.;AL1A3_HUMAN	L	355;259	ENSP00000332256:P355L	ENSP00000332256:P355L	P	+	2	0	ALDH1A3	99258483	1.000000	0.71417	0.896000	0.35187	0.094000	0.18550	7.380000	0.79704	1.401000	0.46761	0.655000	0.94253	CCT		0.582	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
ALDH1A3	220	broad.mit.edu	37	15	101448683	101448683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101448683G>T	ENST00000329841.5	+	12	1994	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Nonsense_Mutation_p.E381*	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	488					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)	p.E488*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	AAATGGCAGAGAACTGTAAGT	0.488																																					p.E488X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1462T	15						.						125.0	109.0	114.0					15																	101448683		2203	4300	6503	99266206	SO:0001587	stop_gained	220	exon12			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1462G>T	15.37:g.101448683G>T	ENSP00000332256:p.Glu488*		99266206	NM_000693	Q6NT64	Nonsense_Mutation	SNP	ENST00000329841.5	37	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	38	7.051507	0.98029	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	.	.	.	5.22	5.22	0.72569	.	0.047335	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8097	0.92053	0.0:0.0:1.0:0.0	.	.	.	.	X	488;392	.	ENSP00000332256:E488X	E	+	1	0	ALDH1A3	99266206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.711000	0.98735	2.430000	0.82344	0.643000	0.83706	GAA		0.488	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		
LRRK1	79705	broad.mit.edu	37	15	101588776	101588776	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101588776T>G	ENST00000388948.3	+	22	3572	c.3213T>G	c.(3211-3213)aaT>aaG	p.N1071K	LRRK1_ENST00000284395.5_Missense_Mutation_p.N1068K|RP11-505E24.3_ENST00000558979.1_RNA|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.N1071K(1)|p.N1083K(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCAGAGAAATCGCTGTAGCA	0.433																																					p.N1071K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3213G	15						.						129.0	128.0	128.0					15																	101588776		1880	4124	6004	99406299	SO:0001583	missense	79705	exon22			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3213T>G	15.37:g.101588776T>G	ENSP00000373600:p.Asn1071Lys		99406299	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670022	0.67814	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72835	-0.64;-0.69	5.1	-2.54	0.06307	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	L	0.51422	1.61	0.40217	D	0.977697	B	0.31077	0.307	B	0.29440	0.102	T	0.55592	-0.8117	10	0.05833	T	0.94	.	14.8455	0.70257	0.0:0.757:0.0:0.243	.	1071	Q38SD2	LRRK1_HUMAN	K	1071;1068	ENSP00000373600:N1071K;ENSP00000284395:N1068K	ENSP00000284395:N1068K	N	+	3	2	LRRK1	99406299	0.023000	0.18921	0.995000	0.50966	0.999000	0.98932	-0.799000	0.04560	-0.333000	0.08476	0.528000	0.53228	AAT		0.433	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101933603G>A	ENST00000348070.1	-	9	1019	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.F175F|PCSK6_ENST00000358417.3_Silent_p.F340F|PCSK6_ENST00000398181.2_Silent_p.F340F|PCSK6_ENST00000344273.2_Silent_p.F340F	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	341	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.F340F(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627																																					p.R341C												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1021T	15						.						42.0	50.0	47.0					15																	101933603		2193	4299	6492	99751126	SO:0001819	synonymous_variant	5046	exon8				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1020C>T	15.37:g.101933603G>A			99751126	NM_138322	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37																																																																																					0.627	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
OR4F15	390649	broad.mit.edu	37	15	102358716	102358716	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:102358716C>A	ENST00000332238.4	+	1	351	c.327C>A	c.(325-327)ggC>ggA	p.G109G		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G109G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTTGGGGGCACTGAGATGG	0.458																																					p.G109G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327A	15						.						138.0	126.0	130.0					15																	102358716		2203	4300	6503	100176239	SO:0001819	synonymous_variant	390649	exon1			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.327C>A	15.37:g.102358716C>A			100176239	NM_001001674	B2RNQ5|Q6IF57|Q96R70	Silent	SNP	ENST00000332238.4	37	CCDS32342.1																																																																																				0.458	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
HERC3	8916	broad.mit.edu	37	4	89591036	89591036	+	Frame_Shift_Del	DEL	G	G	-	rs375113325		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89591036delG	ENST00000402738.1	+	15	1898	c.1659delG	c.(1657-1659)ccgfs	p.P553fs	HERC3_ENST00000264345.3_Frame_Shift_Del_p.P553fs|HERC3_ENST00000543130.1_5'UTR	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	553					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K554fs*4(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGGTATGCCCGAAATATTTCA	0.363																																					p.P553fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1659delG	4						.						95.0	97.0	96.0					4																	89591036		2203	4300	6503	89810059	SO:0001589	frameshift_variant	8916	exon15			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1659delG	4.37:g.89591036delG	ENSP00000385684:p.Pro553fs		89810059	NM_014606	A8K1S5|Q8IXX3	Frame_Shift_Del	DEL	ENST00000402738.1	37	CCDS34028.1																																																																																				0.363	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
ADH4	127	broad.mit.edu	37	4	100048367	100048367	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100048367G>T	ENST00000265512.7	-	7	1046	c.972C>A	c.(970-972)ttC>ttA	p.F324L	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Missense_Mutation_p.F343L|ADH4_ENST00000423445.1_Missense_Mutation_p.F343L|ADH4_ENST00000508393.1_Missense_Mutation_p.F343L	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	324					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.F324L(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GACCACCAAAGAATGTTCCAT	0.338																																					p.F324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C972A	4						.						67.0	69.0	68.0					4																	100048367		2203	4300	6503	100267390	SO:0001583	missense	127	exon7			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.972C>A	4.37:g.100048367G>T	ENSP00000265512:p.Phe324Leu		100267390	NM_000670	A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142413	0.21205	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	3.65	1.71	0.24356	Alcohol dehydrogenase, C-terminal (1);	1.827340	0.04039	U	0.302747	T	0.02418	0.0074	N	0.02129	-0.67	0.25967	N	0.982553	B;B	0.26602	0.154;0.0	B;B	0.26770	0.073;0.008	T	0.36962	-0.9726	10	0.87932	D	0	3.0E-4	3.2909	0.06948	0.1069:0.1553:0.5506:0.1871	.	343;324	P08319-2;P08319	.;ADH4_HUMAN	L	343;324;343;343	ENSP00000424630:F343L;ENSP00000265512:F324L;ENSP00000397939:F343L;ENSP00000425416:F343L	ENSP00000265512:F324L	F	-	3	2	ADH4	100267390	0.004000	0.15560	0.471000	0.27229	0.093000	0.18481	-0.185000	0.09684	0.415000	0.25817	0.655000	0.94253	TTC		0.338	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670	
ADH1B	125	broad.mit.edu	37	4	100232766	100232766	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100232766G>A	ENST00000305046.8	-	7	943	c.876C>T	c.(874-876)atC>atT	p.I292I	ADH1B_ENST00000394887.3_Silent_p.I252I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	292					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.I292I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GTACCCCTACGATGACGCTTG	0.488																																					p.I292I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	4						.						219.0	205.0	210.0					4																	100232766		2203	4300	6503	100451789	SO:0001819	synonymous_variant	125	exon7			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.876C>T	4.37:g.100232766G>A			100451789	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.488	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ADH1B	125	broad.mit.edu	37	4	100234999	100234999	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100234999G>T	ENST00000305046.8	-	6	874	c.807C>A	c.(805-807)gtC>gtA	p.V269V	ADH1B_ENST00000394887.3_Silent_p.V229V			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	269					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.V269V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCCGACCGATGACTTCAAACG	0.443																																					p.V269V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807A	4						.						213.0	213.0	213.0					4																	100234999		2203	4300	6503	100454022	SO:0001819	synonymous_variant	125	exon6			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.807C>A	4.37:g.100234999G>T			100454022	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.443	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
ZNF518B	85460	broad.mit.edu	37	4	10447310	10447310	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:10447310T>C	ENST00000326756.3	-	3	1081	c.643A>G	c.(643-645)Agg>Ggg	p.R215G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	215					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.R215G(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCACCTGCCCTTTCATGTACT	0.428																																					p.R215G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A643G	4						.						187.0	193.0	191.0					4																	10447310		2203	4300	6503	10056408	SO:0001583	missense	85460	exon3			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.643A>G	4.37:g.10447310T>C	ENSP00000317614:p.Arg215Gly		10056408	NM_053042	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867454	0.51588	.	.	ENSG00000178163	ENST00000326756	T	0.01725	4.67	6.16	0.742	0.18341	.	0.610149	0.15116	N	0.279666	T	0.01287	0.0042	N	0.19112	0.55	0.26741	N	0.970387	P	0.43094	0.799	B	0.35550	0.205	T	0.52990	-0.8501	10	0.29301	T	0.29	-14.0701	10.8825	0.46946	0.0:0.0684:0.5823:0.3493	.	215	Q9C0D4	Z518B_HUMAN	G	215	ENSP00000317614:R215G	ENSP00000317614:R215G	R	-	1	2	ZNF518B	10056408	0.274000	0.24191	0.990000	0.47175	0.911000	0.54048	0.341000	0.19909	-0.101000	0.12219	0.528000	0.53228	AGG		0.428	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
ADH1C	126	broad.mit.edu	37	4	100264094	100264094	+	RNA	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100264094T>G	ENST00000510055.1	-	0	860				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTTTGCAAATTTGTCCTTGTT	0.483																																					p.K229T												.	.	0			c.A686C	4						.						412.0	408.0	409.0					4																	100264094		2203	4300	6503	100483117			126	exon6			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100264094T>G			100483117	NM_000669	Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37																																																																																					0.483	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669	
C4orf17	84103	broad.mit.edu	37	4	100434303	100434303	+	Missense_Mutation	SNP	G	G	T	rs201368502	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100434303G>T	ENST00000326581.4	+	2	427	c.65G>T	c.(64-66)aGa>aTa	p.R22I	C4orf17_ENST00000514652.1_Missense_Mutation_p.R22I	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	22								p.R22I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATTATGGCTAGAAATGTAAGC	0.468																																					p.R22I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65T	4						.						105.0	89.0	94.0					4																	100434303		2203	4300	6503	100653326	SO:0001583	missense	84103	exon2			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.65G>T	4.37:g.100434303G>T	ENSP00000322582:p.Arg22Ile		100653326	NM_032149	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766335	0.69878	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.26067	1.78;1.76	4.88	4.88	0.63580	.	0.335152	0.26349	N	0.024897	T	0.44393	0.1291	M	0.64997	1.995	0.35991	D	0.836726	D	0.65815	0.995	D	0.68483	0.958	T	0.45396	-0.9264	10	0.25106	T	0.35	-12.819	13.3896	0.60816	0.0:0.0:1.0:0.0	.	22	Q53FE4	CD017_HUMAN	I	22	ENSP00000322582:R22I;ENSP00000427663:R22I	ENSP00000322582:R22I	R	+	2	0	C4orf17	100653326	0.917000	0.31117	0.114000	0.21550	0.076000	0.17211	3.948000	0.56660	2.518000	0.84900	0.650000	0.86243	AGA		0.468	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149	
MTTP	4547	broad.mit.edu	37	4	100503084	100503084	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100503084A>G	ENST00000265517.5	+	2	287	c.84A>G	c.(82-84)ttA>ttG	p.L28L	MTTP_ENST00000511045.1_Silent_p.L55L|MTTP_ENST00000422897.2_Silent_p.L28L|MTTP_ENST00000457717.1_Silent_p.L28L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	28	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L28L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTCTCTCATTAAATAATGACC	0.458																																					p.L28L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A84G	4						.						135.0	125.0	128.0					4																	100503084		2203	4300	6503	100722107	SO:0001819	synonymous_variant	4547	exon3				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.84A>G	4.37:g.100503084A>G			100722107	NM_000253	A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	CCDS3651.1																																																																																				0.458	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
MTTP	4547	broad.mit.edu	37	4	100518334	100518334	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100518334G>T	ENST00000265517.5	+	8	1223	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	MTTP_ENST00000511045.1_Missense_Mutation_p.K367N|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.K340N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	340	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.K340N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGACTGCGAAGAAAGAAGAGA	0.463																																					p.K340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1020T	4						.						95.0	96.0	96.0					4																	100518334		2203	4300	6503	100737357	SO:0001583	missense	4547	exon9				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1020G>T	4.37:g.100518334G>T	ENSP00000265517:p.Lys340Asn		100737357	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390685	0.42410	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.68331	-0.32;-0.32;-0.32	5.27	4.44	0.53790	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.304109	0.37348	N	0.002128	T	0.62392	0.2424	M	0.67953	2.075	0.31409	N	0.675723	B;B	0.32010	0.336;0.351	B;B	0.36378	0.223;0.174	T	0.60924	-0.7166	10	0.11794	T	0.64	-25.9727	10.6892	0.45860	0.1659:0.0:0.8341:0.0	.	367;340	E9PBP6;P55157	.;MTP_HUMAN	N	367;340;340;340	ENSP00000427679:K367N;ENSP00000400821:K340N;ENSP00000265517:K340N	ENSP00000265517:K340N	K	+	3	2	MTTP	100737357	0.997000	0.39634	0.987000	0.45799	0.987000	0.75469	0.601000	0.24119	1.216000	0.43427	0.655000	0.94253	AAG		0.463	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
MTTP	4547	broad.mit.edu	37	4	100534106	100534106	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100534106G>A	ENST00000265517.5	+	15	2229	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T	MTTP_ENST00000511045.1_Missense_Mutation_p.A703T|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.A676T			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	676					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.A676T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AGCCTTAATCGCAGCCACCCC	0.483																																					p.A676T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2026A	4						.						136.0	134.0	135.0					4																	100534106		2203	4300	6503	100753129	SO:0001583	missense	4547	exon16				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2026G>A	4.37:g.100534106G>A	ENSP00000265517:p.Ala676Thr		100753129	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669852	0.96754	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.64991	-0.13;-0.1;-0.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.914;0.996	T	0.70000	-0.4992	10	0.18276	T	0.48	-15.6636	19.7133	0.96105	0.0:0.0:1.0:0.0	.	703;676	E9PBP6;P55157	.;MTP_HUMAN	T	703;676;676	ENSP00000427679:A703T;ENSP00000400821:A676T;ENSP00000265517:A676T	ENSP00000265517:A676T	A	+	1	0	MTTP	100753129	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.659000	0.90383	0.650000	0.86243	GCA		0.483	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
CLNK	116449	broad.mit.edu	37	4	10492210	10492210	+	Missense_Mutation	SNP	C	C	T	rs375814264		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:10492210C>T	ENST00000226951.6	-	19	1407	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CLNK_ENST00000515667.1_Missense_Mutation_p.E128K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	390	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.E390K(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTGTAGTGTTCGATGATGTCT	0.378																																					p.E390K	GBM(87;402 1286 6949 13902 35851)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1168A	4						.						89.0	91.0	90.0					4																	10492210		1893	4112	6005	10101308	SO:0001583	missense	116449	exon19			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.1168G>A	4.37:g.10492210C>T	ENSP00000226951:p.Glu390Lys		10101308	NM_052964	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301462	0.81136	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	D;D	0.89123	-2.47;-2.47	4.93	4.07	0.47477	SH2 motif (5);	0.530249	0.18837	N	0.129797	D	0.88020	0.6325	L	0.46567	1.45	0.80722	D	1	D	0.57899	0.981	P	0.50896	0.653	D	0.85876	0.1419	10	0.39692	T	0.17	-16.2797	11.2142	0.48817	0.0:0.7925:0.2075:0.0	.	390	Q7Z7G1	CLNK_HUMAN	K	390;128;354	ENSP00000226951:E390K;ENSP00000427256:E128K	ENSP00000226951:E390K	E	-	1	0	CLNK	10101308	0.989000	0.36119	0.992000	0.48379	0.988000	0.76386	2.881000	0.48538	1.166000	0.42689	0.655000	0.94253	GAA		0.378	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
DAPP1	27071	broad.mit.edu	37	4	100761457	100761457	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100761457C>A	ENST00000512369.1	+	3	304	c.236C>A	c.(235-237)tCt>tAt	p.S79Y	DAPP1_ENST00000296414.7_Missense_Mutation_p.S79Y	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)	p.S79Y(1)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GCCAAAGATTCTGTTAAACAC	0.279																																					p.S79Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C236A	4						.						39.0	35.0	36.0					4																	100761457		1786	4064	5850	100980480	SO:0001583	missense	27071	exon3			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.236C>A	4.37:g.100761457C>A	ENSP00000423602:p.Ser79Tyr		100980480	NM_014395	Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300156	0.81136	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	D;D	0.89415	-2.51;-2.51	5.35	5.35	0.76521	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.991;0.997	D	0.94165	0.7418	10	0.52906	T	0.07	-7.8653	18.6905	0.91581	0.0:1.0:0.0:0.0	.	79;79;79	B4DW38;Q9UN19-2;Q9UN19	.;.;DAPP1_HUMAN	Y	79	ENSP00000296414:S79Y;ENSP00000423602:S79Y	ENSP00000296414:S79Y	S	+	2	0	DAPP1	100980480	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.069000	0.76755	2.510000	0.84645	0.655000	0.94253	TCT		0.279	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1		
DNAJB14	79982	broad.mit.edu	37	4	100827712	100827712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:100827712G>A	ENST00000442697.2	-	5	848	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	232						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R147*(1)		kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CCACTATGTCGATGCTGATGT	0.348																																					p.R232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C694T	4						.						138.0	128.0	132.0					4																	100827712		2203	4300	6503	101046735	SO:0001587	stop_gained	79982	exon5			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.694C>T	4.37:g.100827712G>A	ENSP00000404381:p.Arg232*		101046735	NM_001031723	Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Nonsense_Mutation	SNP	ENST00000442697.2	37	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011784	0.97200	.	.	ENSG00000164031	ENST00000442697	.	.	.	5.55	5.55	0.83447	.	0.288681	0.33591	N	0.004745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1032	0.93282	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000404381:R232X	R	-	1	2	DNAJB14	101046735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.923000	0.87546	2.616000	0.88540	0.591000	0.81541	CGA		0.348	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2	
CLNK	116449	broad.mit.edu	37	4	10566357	10566357	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:10566357C>A	ENST00000226951.6	-	7	576	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	CLNK_ENST00000442825.2_Missense_Mutation_p.D71Y|CLNK_ENST00000507719.1_Missense_Mutation_p.D71Y	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	113					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.D113Y(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTCCTGGTGTCTAACGGAAGG	0.438																																					p.D113Y	GBM(87;402 1286 6949 13902 35851)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G337T	4						.						213.0	199.0	203.0					4																	10566357		1978	4145	6123	10175455	SO:0001583	missense	116449	exon7			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.337G>T	4.37:g.10566357C>A	ENSP00000226951:p.Asp113Tyr		10175455	NM_052964	Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324764	0.41197	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.52983	1.72;0.64;0.64	5.39	0.0355	0.14188	.	1.774740	0.02936	N	0.139858	T	0.46328	0.1387	L	0.32530	0.975	0.09310	N	1	B;D	0.62365	0.1;0.991	B;P	0.55161	0.046;0.77	T	0.19289	-1.0310	10	0.41790	T	0.15	0.0773	1.0056	0.01486	0.2575:0.3366:0.2314:0.1746	.	71;113	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	Y	113;113;71;71	ENSP00000226951:D113Y;ENSP00000390744:D71Y;ENSP00000427208:D71Y	ENSP00000226951:D113Y	D	-	1	0	CLNK	10175455	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.393000	0.07305	-0.285000	0.09089	-0.151000	0.13558	GAC		0.438	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
DDIT4L	115265	broad.mit.edu	37	4	101108893	101108893	+	Nonsense_Mutation	SNP	G	G	A	rs144358521		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:101108893G>A	ENST00000273990.2	-	3	737	c.523C>T	c.(523-525)Cga>Tga	p.R175*	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	175					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.R175*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TTAACAAGTCGAAATCCTGAG	0.398																																					p.R175X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C523T	4						.	G	stop/ARG	0,4406		0,0,2203	67.0	73.0	71.0		523	5.0	1.0	4	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	DDIT4L	NM_145244.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		175/194	101108893	1,13005	2203	4300	6503	101327916	SO:0001587	stop_gained	115265	exon3			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.523C>T	4.37:g.101108893G>A	ENSP00000354830:p.Arg175*		101327916	NM_145244	B2R7C3	Nonsense_Mutation	SNP	ENST00000273990.2	37	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	G	37	6.082713	0.97267	0.0	1.16E-4	ENSG00000145358	ENST00000273990;ENST00000502763	.	.	.	5.95	5.04	0.67666	.	0.085570	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0474	10.269	0.43473	0.0769:0.0:0.7768:0.1462	.	.	.	.	X	175	.	ENSP00000354830:R175X	R	-	1	2	DDIT4L	101327916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.448000	0.44926	2.824000	0.97209	0.655000	0.94253	CGA		0.398	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1	NM_145244	
PPP3CA	5530	broad.mit.edu	37	4	102117160	102117160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:102117160C>A	ENST00000394854.3	-	2	855	c.172G>T	c.(172-174)Gag>Tag	p.E58*	PPP3CA_ENST00000394853.4_Nonsense_Mutation_p.E58*|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000512215.1_Nonsense_Mutation_p.E58*|PPP3CA_ENST00000323055.6_Nonsense_Mutation_p.E58*|PPP3CA_ENST00000507176.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	58	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.E58*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCAACACTCTCTTCCAGCCTT	0.433																																					p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	4						.						144.0	144.0	144.0					4																	102117160		2203	4300	6503	102336183	SO:0001587	stop_gained	5530	exon2				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.172G>T	4.37:g.102117160C>A	ENSP00000378323:p.Glu58*		102336183	NM_001130691	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Nonsense_Mutation	SNP	ENST00000394854.3	37	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	46	12.331101	0.99658	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000529324;ENST00000525819	.	.	.	5.65	5.65	0.86999	.	0.118831	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.2381	19.0843	0.93196	0.0:1.0:0.0:0.0	.	.	.	.	X	58;58;58;58;8;8	.	ENSP00000320580:E58X	E	-	1	0	PPP3CA	102336183	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.496000	0.81526	2.824000	0.97209	0.655000	0.94253	GAG		0.433	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944	
BANK1	55024	broad.mit.edu	37	4	102751344	102751344	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:102751344C>T	ENST00000322953.4	+	2	724	c.450C>T	c.(448-450)atC>atT	p.I150I	BANK1_ENST00000444316.2_Silent_p.I120I|BANK1_ENST00000504592.1_Silent_p.I135I|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	150	Interaction with ITPR2.				B cell activation (GO:0042113)			p.I150I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCTCTGTAATCCAGAGTATCA	0.318																																					p.I150I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	4						.						54.0	59.0	57.0					4																	102751344		2189	4297	6486	102970367	SO:0001819	synonymous_variant	55024	exon2			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.450C>T	4.37:g.102751344C>T			102970367	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	CCDS34038.1																																																																																				0.318	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
BANK1	55024	broad.mit.edu	37	4	102791758	102791758	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:102791758A>C	ENST00000322953.4	+	5	1134	c.860A>C	c.(859-861)gAa>gCa	p.E287A	BANK1_ENST00000444316.2_Missense_Mutation_p.E257A|BANK1_ENST00000504592.1_Missense_Mutation_p.E272A|BANK1_ENST00000508653.1_Missense_Mutation_p.E154A|BANK1_ENST00000428908.1_Missense_Mutation_p.E154A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	287	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				B cell activation (GO:0042113)			p.E287A(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGGCAAAGGAATGCCTATTC	0.398																																					p.E287A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A860C	4						.						116.0	103.0	107.0					4																	102791758		2203	4300	6503	103010781	SO:0001583	missense	55024	exon5			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.860A>C	4.37:g.102791758A>C	ENSP00000320509:p.Glu287Ala		103010781	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.487016	0.26686	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19105	2.86;2.85;2.17;2.17;2.86	5.2	-5.15	0.02866	DBB domain (1);	0.848527	0.10200	N	0.703503	T	0.15176	0.0366	L	0.58101	1.795	0.09310	N	1	B;B;B	0.24823	0.01;0.112;0.112	B;B;B	0.24394	0.01;0.053;0.053	T	0.28586	-1.0039	10	0.38643	T	0.18	.	2.7692	0.05329	0.3733:0.1436:0.3673:0.1159	.	154;287;272	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	A	272;287;154;154;257	ENSP00000421443:E272A;ENSP00000320509:E287A;ENSP00000412748:E154A;ENSP00000422314:E154A;ENSP00000388817:E257A	ENSP00000320509:E287A	E	+	2	0	BANK1	103010781	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.581000	0.23819	-1.146000	0.02854	-0.290000	0.09829	GAA		0.398	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
NFKB1	4790	broad.mit.edu	37	4	103459024	103459024	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103459024C>T	ENST00000505458.1	+	5	443	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	NFKB1_ENST00000394820.4_Missense_Mutation_p.R56C|NFKB1_ENST00000226574.4_Missense_Mutation_p.R57C			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	56	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R57C(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GAGAGGATTTCGTTTCCGTTA	0.378																																					p.R56C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166T	4						.						159.0	144.0	149.0					4																	103459024		2203	4300	6503	103678052	SO:0001583	missense	4790	exon5			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.166C>T	4.37:g.103459024C>T	ENSP00000424790:p.Arg56Cys		103678052	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923054	0.73213	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000511926;ENST00000507079;ENST00000505458;ENST00000509165	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.24	5.24	0.73138	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.064276	0.64402	D	0.000015	D	0.87672	0.6236	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90424	0.4419	10	0.87932	D	0	-13.6442	17.633	0.88114	0.0:1.0:0.0:0.0	.	56;57	P19838;P19838-2	NFKB1_HUMAN;.	C	57;56;64;65;56;57	ENSP00000226574:R57C;ENSP00000378297:R56C;ENSP00000420904:R64C;ENSP00000426147:R65C;ENSP00000424790:R56C;ENSP00000423877:R57C	ENSP00000226574:R57C	R	+	1	0	NFKB1	103678052	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.299000	0.43611	2.456000	0.83038	0.655000	0.94253	CGT		0.378	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
NFKB1	4790	broad.mit.edu	37	4	103514630	103514630	+	Missense_Mutation	SNP	C	C	T	rs371719137		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103514630C>T	ENST00000505458.1	+	12	1389	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	NFKB1_ENST00000600343.1_Missense_Mutation_p.S191L|NFKB1_ENST00000394820.4_Missense_Mutation_p.S371L|NFKB1_ENST00000226574.4_Missense_Mutation_p.S372L			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	371					apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S372L(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CCCAATTTTTCGGATAGTTTC	0.507																																					p.S371L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112T	4						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	145.0	155.0	152.0		1112,1115	4.7	0.9	4		152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	371/969,372/970	103514630	1,13005	2203	4300	6503	103733668	SO:0001583	missense	4790	exon12			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1112C>T	4.37:g.103514630C>T	ENSP00000424790:p.Ser371Leu		103733668	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455683	0.63401	0.0	1.16E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.74	4.74	0.60224	Immunoglobulin E-set (1);	0.169892	0.39274	N	0.001411	T	0.26304	0.0642	L	0.28344	0.845	0.43080	D	0.994734	P;P;P	0.45902	0.868;0.868;0.74	B;B;B	0.36134	0.155;0.155;0.218	T	0.09487	-1.0672	10	0.41790	T	0.15	.	17.7398	0.88404	0.0:1.0:0.0:0.0	.	191;371;372	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	L	372;371;371;165	ENSP00000226574:S372L;ENSP00000378297:S371L;ENSP00000424790:S371L;ENSP00000424815:S165L	ENSP00000226574:S372L	S	+	2	0	NFKB1	103733668	0.988000	0.35896	0.927000	0.36925	0.534000	0.34807	2.784000	0.47774	2.165000	0.68154	0.462000	0.41574	TCG		0.507	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
NFKB1	4790	broad.mit.edu	37	4	103534700	103534700	+	Missense_Mutation	SNP	C	C	T	rs142074302		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103534700C>T	ENST00000505458.1	+	23	2985	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L	NFKB1_ENST00000600343.1_Missense_Mutation_p.S723L|NFKB1_ENST00000394820.4_Missense_Mutation_p.S903L|NFKB1_ENST00000226574.4_Missense_Mutation_p.S904L			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	903	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S904L(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CAGGCCCACTCGCTGCCTCTC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17217	0.0		0.001	False		,,,				2504	0.0				p.S903L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2708T	4						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	52.0	41.0	45.0		2708,2711	-1.0	0.0	4	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	903/969,904/970	103534700	1,13005	2203	4300	6503	103753746	SO:0001583	missense	4790	exon23			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2708C>T	4.37:g.103534700C>T	ENSP00000424790:p.Ser903Leu		103753746	NM_001165412	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.98	1.504697	0.26949	0.0	1.16E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.36699	1.26;1.24;1.24	5.17	-1.0	0.10196	Ankyrin repeat-containing domain (1);	1.764740	0.03321	N	0.191927	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.002;0.002;0.008	B;B;B	0.08055	0.001;0.001;0.003	T	0.14282	-1.0478	10	0.35671	T	0.21	7.8393	5.2778	0.15659	0.0:0.4501:0.1363:0.4136	.	723;903;904	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	L	904;903;903	ENSP00000226574:S904L;ENSP00000378297:S903L;ENSP00000424790:S903L	ENSP00000226574:S904L	S	+	2	0	NFKB1	103753746	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.433000	0.02428	-0.645000	0.05458	-0.145000	0.13849	TCG		0.542	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1		
MANBA	4126	broad.mit.edu	37	4	103595103	103595103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103595103G>T	ENST00000226578.4	-	8	1184	c.1085C>A	c.(1084-1086)tCa>tAa	p.S362*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.S305*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	362					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.S362L(1)|p.S362*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCCTGGAATGAATCTGCTGG	0.368																																					p.S362X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	urinary_tract(1)|large_intestine(1)	c.C1085A	4						.						78.0	85.0	83.0					4																	103595103		2203	4300	6503	103814151	SO:0001587	stop_gained	4126	exon8				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1085C>A	4.37:g.103595103G>T	ENSP00000226578:p.Ser362*		103814151	NM_005908	Q96BC3|Q9NYX9	Nonsense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	38	6.664987	0.97747	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	.	.	.	5.63	4.79	0.61399	.	0.387274	0.29616	N	0.011644	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.258	14.6467	0.68767	0.0699:0.0:0.9301:0.0	.	.	.	.	X	362;305	.	ENSP00000226578:S362X	S	-	2	0	MANBA	103814151	1.000000	0.71417	0.014000	0.15608	0.898000	0.52572	7.556000	0.82233	1.370000	0.46153	0.561000	0.74099	TCA		0.368	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
UBE2D3	7323	broad.mit.edu	37	4	103747646	103747646	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103747646T>C	ENST00000453744.2	-	2	533	c.20A>G	c.(19-21)aAt>aGt	p.N7S	UBE2D3_ENST00000394804.2_Missense_Mutation_p.N7S|UBE2D3_ENST00000349311.8_Missense_Mutation_p.N7S|UBE2D3_ENST00000505207.1_5'Flank|UBE2D3_ENST00000513098.1_5'UTR|UBE2D3_ENST00000394803.5_Missense_Mutation_p.N7S|RP11-10L12.4_ENST00000501133.2_RNA|UBE2D3_ENST00000394801.4_Missense_Mutation_p.N7S|UBE2D3_ENST00000357194.6_Intron|UBE2D3_ENST00000343106.5_Missense_Mutation_p.N7S|UBE2D3_ENST00000321805.7_Missense_Mutation_p.N7S|UBE2D3_ENST00000338145.3_Missense_Mutation_p.N7S|UBE2D3_ENST00000502404.1_5'Flank|UBE2D3_ENST00000504211.1_5'Flank|UBE2D3_ENST00000507845.1_5'Flank|UBE2D3_ENST00000350435.7_5'Flank	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	7					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.N7S(1)		kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GGTTACCTTATTAATCCGTTT	0.547																																					p.N7S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A20G	4						.						214.0	202.0	206.0					4																	103747646		2203	4300	6503	103966781	SO:0001583	missense	7323	exon2			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.20A>G	4.37:g.103747646T>C	ENSP00000396901:p.Asn7Ser		103966781	NM_181886	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Intron	SNP	ENST00000453744.2	37	CCDS3660.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908033	0.33721	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000338145;ENST00000349311;ENST00000508238;ENST00000502690;ENST00000508249	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	4.09	4.09	0.47781	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.	.	.	.	T	0.21881	0.0527	N	0.10733	0.035	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.06006	-1.0851	9	0.29301	T	0.29	.	9.6582	0.39939	0.0:0.0:0.0:1.0	.	7;7	P61077;P61077-2	UB2D3_HUMAN;.	S	7	ENSP00000396901:N7S;ENSP00000378280:N7S;ENSP00000378282:N7S;ENSP00000378283:N7S;ENSP00000345285:N7S;ENSP00000318494:N7S;ENSP00000337208:N7S;ENSP00000344069:N7S;ENSP00000423487:N7S;ENSP00000425762:N7S;ENSP00000421310:N7S	ENSP00000318494:N7S	N	-	2	0	UBE2D3	103966781	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.033000	0.49743	1.836000	0.53414	0.455000	0.32223	AAT		0.547	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253791.2	NM_181893	
SLC9B1	150159	broad.mit.edu	37	4	103832680	103832680	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103832680T>G	ENST00000296422.7	-	8	985	c.844A>C	c.(844-846)Aac>Cac	p.N282H	SLC9B1_ENST00000394789.3_Missense_Mutation_p.N282H|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	282					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.N282H(1)									GCTATGGCGTTATTAAGTATA	0.363																																					p.N282H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A844C	4						.						37.0	37.0	37.0					4																	103832680		2031	3870	5901	104052129	SO:0001583	missense	150159	exon8			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.844A>C	4.37:g.103832680T>G	ENSP00000296422:p.Asn282His		104052129	NM_139173	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406421	0.42715	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000511253;ENST00000514340	T;T;T;T	0.48201	2.43;2.43;0.82;2.43	4.36	3.13	0.36017	.	0.334817	0.33023	N	0.005373	T	0.66771	0.2823	M	0.83012	2.62	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.991	D;D;D	0.71184	0.929;0.972;0.929	T	0.59059	-0.7525	10	0.62326	D	0.03	-18.6878	10.1978	0.43065	0.0:0.0:0.1678:0.8322	.	50;282;282	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	H	282;282;7;225	ENSP00000378269:N282H;ENSP00000296422:N282H;ENSP00000425544:N7H;ENSP00000426056:N225H	ENSP00000296422:N282H	N	-	1	0	SLC9B1	104052129	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.918000	0.28678	0.770000	0.33336	0.477000	0.44152	AAC		0.363	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
SLC9B1	150159	broad.mit.edu	37	4	103866380	103866380	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:103866380T>G	ENST00000296422.7	-	6	764	c.623A>C	c.(622-624)aAa>aCa	p.K208T	SLC9B1_ENST00000394789.3_Missense_Mutation_p.K208T	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	208					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.K208T(1)									CCAGGGAAATTTCATAATGAA	0.358																																					p.K208T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A623C	4						.						84.0	88.0	87.0					4																	103866380		2203	4299	6502	104085829	SO:0001583	missense	150159	exon6			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.623A>C	4.37:g.103866380T>G	ENSP00000296422:p.Lys208Thr		104085829	NM_139173	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.201521	0.38905	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.15603	2.41;2.41;2.41	4.16	4.16	0.48862	.	0.679258	0.14406	N	0.321583	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	0.999996	B;B	0.33345	0.409;0.356	B;B	0.38755	0.281;0.185	T	0.15809	-1.0424	10	0.56958	D	0.05	-12.2706	8.1438	0.31100	0.0:0.0927:0.0:0.9073	.	208;208	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	T	208;208;151;208	ENSP00000378269:K208T;ENSP00000296422:K208T;ENSP00000426056:K151T	ENSP00000296422:K208T	K	-	2	0	SLC9B1	104085829	0.266000	0.24112	0.930000	0.37139	0.989000	0.77384	1.958000	0.40402	1.875000	0.54330	0.477000	0.44152	AAA		0.358	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	G	A	rs181237399		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104003289G>A	ENST00000296424.4	-	9	753	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	211					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.F211F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463																																					p.F211F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633T	4						.	G		1,4405	2.1+/-5.4	0,1,2202	142.0	124.0	130.0		633	1.1	1.0	4		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BDH2	NM_020139.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		211/246	104003289	2,13004	2203	4300	6503	104222738	SO:0001819	synonymous_variant	56898	exon9			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.633C>T	4.37:g.104003289G>A			104222738	NM_020139	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	ENST00000296424.4	37	CCDS3663.1																																																																																				0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139	
CENPE	1062	broad.mit.edu	37	4	104029996	104029996	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104029996G>A	ENST00000265148.3	-	48	8064	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	CENPE_ENST00000380026.3_Missense_Mutation_p.R2538C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2659	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.R2622C(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCAAAATAGCGAACTGGATGA	0.368																																					p.R2659C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7975T	4						.						128.0	125.0	126.0					4																	104029996		2203	4300	6503	104249445	SO:0001583	missense	1062	exon48			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7975C>T	4.37:g.104029996G>A	ENSP00000265148:p.Arg2659Cys		104249445	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959351	0.34565	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.68181	-0.31;-0.3	5.19	3.23	0.37069	.	.	.	.	.	T	0.65606	0.2707	L	0.51422	1.61	0.22851	N	0.998654	D;D	0.71674	0.998;0.997	P;P	0.50896	0.653;0.451	T	0.56836	-0.7913	9	0.87932	D	0	.	6.7115	0.23280	0.0:0.1632:0.5787:0.2581	.	2538;2659	Q02224-3;Q02224	.;CENPE_HUMAN	C	2659;2538	ENSP00000265148:R2659C;ENSP00000369365:R2538C	ENSP00000265148:R2659C	R	-	1	0	CENPE	104249445	0.883000	0.30277	0.625000	0.29200	0.180000	0.23129	1.612000	0.36889	1.166000	0.42689	-0.175000	0.13238	CGC		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104070361	104070361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104070361C>A	ENST00000265148.3	-	27	3690	c.3601G>T	c.(3601-3603)Gaa>Taa	p.E1201*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1176*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1201					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E1201*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTTTCTTTCTTTGGTTATA	0.333																																					p.E1201X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3601T	4						.						86.0	91.0	89.0					4																	104070361		2202	4294	6496	104289810	SO:0001587	stop_gained	1062	exon27			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3601G>T	4.37:g.104070361C>A	ENSP00000265148:p.Glu1201*		104289810	NM_001813	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	38	6.939402	0.97948	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	4.01	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.15	0.42786	0.0:0.9043:0.0:0.0957	.	.	.	.	X	1201;1201;1176	.	ENSP00000265148:E1201X	E	-	1	0	CENPE	104289810	0.975000	0.34042	0.792000	0.32020	0.165000	0.22458	2.505000	0.45424	1.021000	0.39600	-0.150000	0.13652	GAA		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104070427	104070427	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104070427T>C	ENST00000265148.3	-	27	3624	c.3535A>G	c.(3535-3537)Aca>Gca	p.T1179A	CENPE_ENST00000380026.3_Missense_Mutation_p.T1154A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1179					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.T1179A(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGCCTCTCTGTTTCCATATGT	0.303																																					p.T1179A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3535G	4						.						92.0	93.0	93.0					4																	104070427		2202	4297	6499	104289876	SO:0001583	missense	1062	exon27			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3535A>G	4.37:g.104070427T>C	ENSP00000265148:p.Thr1179Ala		104289876	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	6.301	0.423618	0.11928	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70282	-0.47;-0.47	4.0	4.0	0.46444	.	.	.	.	.	T	0.61148	0.2324	L	0.47716	1.5	0.09310	N	1	B;B	0.24721	0.11;0.006	B;B	0.25291	0.059;0.002	T	0.49041	-0.8980	9	0.26408	T	0.33	.	8.1317	0.31031	0.1794:0.0:0.0:0.8206	.	1154;1179	Q02224-3;Q02224	.;CENPE_HUMAN	A	1179;1179;1154	ENSP00000265148:T1179A;ENSP00000369365:T1154A	ENSP00000265148:T1179A	T	-	1	0	CENPE	104289876	0.000000	0.05858	0.415000	0.26534	0.065000	0.16274	0.154000	0.16343	1.790000	0.52503	0.482000	0.46254	ACA		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104072462	104072462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104072462C>A	ENST00000265148.3	-	26	3399	c.3310G>T	c.(3310-3312)Gaa>Taa	p.E1104*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.E1079*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1104					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.E1104*(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTTCTTTTCTTGTGCAACT	0.348																																					p.E1104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3310T	4						.						136.0	120.0	125.0					4																	104072462		2203	4299	6502	104291911	SO:0001587	stop_gained	1062	exon26			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3310G>T	4.37:g.104072462C>A	ENSP00000265148:p.Glu1104*		104291911	NM_001813	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	38	6.813675	0.97857	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.8472	0.70270	0.0:1.0:0.0:0.0	.	.	.	.	X	1104;1104;1079;1104	.	ENSP00000265148:E1104X	E	-	1	0	CENPE	104291911	1.000000	0.71417	0.991000	0.47740	0.575000	0.36095	3.316000	0.51960	2.257000	0.74773	0.655000	0.94253	GAA		0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104080032	104080032	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104080032C>A	ENST00000265148.3	-	23	2702	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N	CENPE_ENST00000380026.3_Missense_Mutation_p.K846N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	871					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.K871N(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTTCTTGGGTCTTGTAAGAAA	0.368																																					p.K871N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2613T	4						.						46.0	45.0	46.0					4																	104080032		2203	4296	6499	104299481	SO:0001583	missense	1062	exon23			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2613G>T	4.37:g.104080032C>A	ENSP00000265148:p.Lys871Asn		104299481	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	5.485	0.274481	0.10403	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.82984	-1.67;-1.67;-1.67	4.81	-0.67	0.11384	.	.	.	.	.	D	0.83271	0.5218	M	0.70275	2.135	0.09310	N	1	P;B	0.52061	0.95;0.236	P;B	0.52424	0.698;0.064	T	0.72516	-0.4269	9	0.66056	D	0.02	.	3.8444	0.08928	0.2624:0.3297:0.0:0.4079	.	846;871	Q02224-3;Q02224	.;CENPE_HUMAN	N	871;871;846;871	ENSP00000265148:K871N;ENSP00000369365:K846N;ENSP00000423981:K871N	ENSP00000265148:K871N	K	-	3	2	CENPE	104299481	0.961000	0.32948	0.052000	0.19188	0.805000	0.45488	0.190000	0.17057	-0.053000	0.13289	0.650000	0.86243	AAG		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CENPE	1062	broad.mit.edu	37	4	104101560	104101560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104101560C>A	ENST00000265148.3	-	13	1239	c.1150G>T	c.(1150-1152)Gat>Tat	p.D384Y	CENPE_ENST00000509120.1_5'UTR|CENPE_ENST00000380026.3_Missense_Mutation_p.D384Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	384					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.D384Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGAAGCAAATCTTTTTCTTCC	0.368																																					p.D384Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150T	4						.						91.0	92.0	92.0					4																	104101560		2203	4300	6503	104321009	SO:0001583	missense	1062	exon13			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1150G>T	4.37:g.104101560C>A	ENSP00000265148:p.Asp384Tyr		104321009	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835038	0.71373	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.69806	-0.43;-0.4;-0.1	5.23	5.23	0.72850	.	.	.	.	.	T	0.76564	0.4005	L	0.60455	1.87	0.44227	D	0.997068	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.979	T	0.77978	-0.2384	9	0.87932	D	0	.	9.5702	0.39422	0.0:0.8365:0.0:0.1635	.	384;384	Q02224-3;Q02224	.;CENPE_HUMAN	Y	384	ENSP00000265148:D384Y;ENSP00000369365:D384Y;ENSP00000423981:D384Y	ENSP00000265148:D384Y	D	-	1	0	CENPE	104321009	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	3.698000	0.54771	2.594000	0.87642	0.563000	0.77884	GAT		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TACR3	6870	broad.mit.edu	37	4	104511122	104511122	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:104511122C>T	ENST00000304883.2	-	5	1255	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	372					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.R372H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGACACCAGCGAAATGCTCT	0.448																																					p.R372H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1115A	4						.						82.0	81.0	81.0					4																	104511122		2203	4300	6503	104730571	SO:0001583	missense	6870	exon5			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1115G>A	4.37:g.104511122C>T	ENSP00000303325:p.Arg372His		104730571	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188675	0.78789	.	.	ENSG00000169836	ENST00000304883	T	0.38887	1.11	5.81	5.81	0.92471	.	0.101452	0.64402	D	0.000005	T	0.46521	0.1397	M	0.67625	2.065	0.80722	D	1	B	0.23735	0.09	B	0.13407	0.009	T	0.42599	-0.9442	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	372	P29371	NK3R_HUMAN	H	372	ENSP00000303325:R372H	ENSP00000303325:R372H	R	-	2	0	TACR3	104730571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.650000	0.67944	2.746000	0.94184	0.591000	0.81541	CGC		0.448	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
TET2	54790	broad.mit.edu	37	4	106156521	106156521	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:106156521G>A	ENST00000540549.1	+	3	2282	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	TET2_ENST00000305737.2_Silent_p.P474P|TET2_ENST00000394764.1_Silent_p.P474P|TET2_ENST00000513237.1_Silent_p.P495P|TET2_ENST00000545826.1_Silent_p.P474P|TET2_ENST00000380013.4_Silent_p.P474P|TET2_ENST00000413648.2_Silent_p.P474P			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	474					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.P474P(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCCTTCTCCGATGCTTTCTG	0.438			"""Mis N, F"""		MDS																																p.P474P			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1422A	4						.						108.0	103.0	104.0					4																	106156521		2203	4300	6503	106375970	SO:0001819	synonymous_variant	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1422G>A	4.37:g.106156521G>A			106375970	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																				0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
TET2	54790	broad.mit.edu	37	4	106157443	106157443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:106157443G>T	ENST00000540549.1	+	3	3204	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*	TET2_ENST00000305737.2_Nonsense_Mutation_p.E782*|TET2_ENST00000394764.1_Nonsense_Mutation_p.E782*|TET2_ENST00000513237.1_Nonsense_Mutation_p.E803*|TET2_ENST00000545826.1_Nonsense_Mutation_p.E782*|TET2_ENST00000380013.4_Nonsense_Mutation_p.E782*|TET2_ENST00000413648.2_Nonsense_Mutation_p.E782*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	782	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.E782*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTAAAGTGGAAGAATGTTT	0.378			"""Mis N, F"""		MDS																																p.E782X			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2344T	4						.						59.0	61.0	60.0					4																	106157443		2202	4300	6502	106376892	SO:0001587	stop_gained	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2344G>T	4.37:g.106157443G>T	ENSP00000442788:p.Glu782*		106376892	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	42	9.702343	0.99242	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.91	5.91	0.95273	.	6.022120	0.00357	N	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	782;782;782;803;782;782;782	.	ENSP00000265149:E782X	E	+	1	0	TET2	106376892	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	3.452000	0.52971	2.793000	0.96121	0.655000	0.94253	GAA		0.378	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
TET2	54790	broad.mit.edu	37	4	106158400	106158400	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:106158400C>A	ENST00000540549.1	+	3	4161	c.3301C>A	c.(3301-3303)Ctc>Atc	p.L1101I	TET2_ENST00000305737.2_Missense_Mutation_p.L1101I|TET2_ENST00000394764.1_Missense_Mutation_p.L1101I|TET2_ENST00000513237.1_Missense_Mutation_p.L1122I|TET2_ENST00000545826.1_Missense_Mutation_p.L1101I|TET2_ENST00000380013.4_Missense_Mutation_p.L1101I|TET2_ENST00000413648.2_Missense_Mutation_p.L1101I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1101					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1101I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCTTCTGTTCTCAATAATTT	0.383			"""Mis N, F"""		MDS																																p.L1101I			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3301A	4						.						61.0	64.0	63.0					4																	106158400		2203	4300	6503	106377849	SO:0001583	missense	54790	exon3			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3301C>A	4.37:g.106158400C>A	ENSP00000442788:p.Leu1101Ile		106377849	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284543	0.59867	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.24908	1.83;1.83;2.39;1.83;1.83;1.83;1.83	5.79	4.95	0.65309	.	0.499782	0.16173	N	0.226193	T	0.42108	0.1188	L	0.46741	1.465	0.32725	N	0.509795	D;D;D	0.76494	0.976;0.976;0.999	P;P;D	0.67382	0.834;0.873;0.951	T	0.54070	-0.8348	10	0.66056	D	0.02	.	11.7396	0.51786	0.0:0.8594:0.0:0.1406	.	1122;1101;1101	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	I	1101;1101;1101;1122;1101;1101;1101	ENSP00000306705:L1101I;ENSP00000442788:L1101I;ENSP00000442867:L1101I;ENSP00000425443:L1122I;ENSP00000369351:L1101I;ENSP00000378245:L1101I;ENSP00000391448:L1101I	ENSP00000265149:L1101I	L	+	1	0	TET2	106377849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.009000	0.49552	1.449000	0.47699	0.655000	0.94253	CTC		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
PPA2	27068	broad.mit.edu	37	4	106292005	106292005	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:106292005C>T	ENST00000341695.5	-	11	995	c.965G>A	c.(964-966)aGt>aAt	p.S322N	PPA2_ENST00000380004.2_Missense_Mutation_p.S304N|PPA2_ENST00000348706.5_Missense_Mutation_p.S293N|PPA2_ENST00000432483.2_Missense_Mutation_p.S220N|PPA2_ENST00000354147.3_Missense_Mutation_p.S156N|PPA2_ENST00000357415.4_Missense_Mutation_p.S337N	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	322					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.S322N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TTCTTCATTACTTTCTTTATT	0.259																																					p.S293N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	4						.						17.0	18.0	18.0					4																	106292005		2124	4195	6319	106511454	SO:0001583	missense	27068	exon10				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.965G>A	4.37:g.106292005C>T	ENSP00000343885:p.Ser322Asn		106511454	NM_006903	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	C	5.293	0.239423	0.10023	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	4.23	-1.13	0.09775	.	0.468940	0.25264	N	0.031934	T	0.25419	0.0618	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.009;0.003;0.001;0.003	B;B;B;B;B	0.12837	0.008;0.008;0.003;0.001;0.001	T	0.11397	-1.0589	10	0.51188	T	0.08	-2.5914	3.6733	0.08283	0.1723:0.3795:0.0:0.4481	.	156;220;293;304;322	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	N	322;293;156;220;337;304	ENSP00000343885:S322N;ENSP00000313061:S293N;ENSP00000340352:S156N;ENSP00000389957:S220N;ENSP00000349996:S337N;ENSP00000369340:S304N	ENSP00000343885:S322N	S	-	2	0	PPA2	106511454	0.000000	0.05858	0.006000	0.13384	0.352000	0.29268	-0.619000	0.05572	0.041000	0.15688	-0.355000	0.07637	AGT		0.259	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869	
PAPSS1	9061	broad.mit.edu	37	4	108615048	108615048	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108615048T>G	ENST00000265174.4	-	3	562	c.290A>C	c.(289-291)aAa>aCa	p.K97T	PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	97					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.K97T(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCCAAGATTTTTATTGAGACC	0.448																																					p.K97T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A290C	4						.						137.0	123.0	128.0					4																	108615048		2203	4300	6503	108834497	SO:0001583	missense	9061	exon3			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.290A>C	4.37:g.108615048T>G	ENSP00000265174:p.Lys97Thr		108834497	NM_005443	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	32	5.183960	0.94885	.	.	ENSG00000138801	ENST00000265174	T	0.79141	-1.24	5.67	5.67	0.87782	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	M	0.92604	3.325	0.80722	D	1	D	0.57899	0.981	D	0.74674	0.984	D	0.92835	0.6283	10	0.87932	D	0	-30.1002	15.9108	0.79473	0.0:0.0:0.0:1.0	.	97	O43252	PAPS1_HUMAN	T	97	ENSP00000265174:K97T	ENSP00000265174:K97T	K	-	2	0	PAPSS1	108834497	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	5.818000	0.69236	2.156000	0.67533	0.454000	0.30748	AAA		0.448	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2		
SGMS2	166929	broad.mit.edu	37	4	108824539	108824539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108824539G>T	ENST00000394684.4	+	5	1281	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Nonsense_Mutation_p.E242*|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Nonsense_Mutation_p.E242*	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	242					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.E242*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		GTTCATCAAAGAATGTAAGTA	0.453																																					p.E242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G724T	4						.						97.0	90.0	92.0					4																	108824539		2203	4300	6503	109043988	SO:0001587	stop_gained	166929	exon4			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.724G>T	4.37:g.108824539G>T	ENSP00000378176:p.Glu242*		109043988	NM_001136257	A8K2S9|B2RA61	Nonsense_Mutation	SNP	ENST00000394684.4	37	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	G	38	6.950037	0.97956	.	.	ENSG00000164023	ENST00000394684;ENST00000503862;ENST00000359079;ENST00000394686	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-3.9353	19.5644	0.95388	0.0:0.0:1.0:0.0	.	.	.	.	X	242;69;242;242	.	ENSP00000351981:E242X	E	+	1	0	SGMS2	109043988	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.617000	0.88574	0.655000	0.94253	GAA		0.453	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
SGMS2	166929	broad.mit.edu	37	4	108831517	108831517	+	Silent	SNP	C	C	A	rs370963195		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108831517C>A	ENST00000394684.4	+	7	1463	c.906C>A	c.(904-906)gtC>gtA	p.V302V	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Silent_p.V302V|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Silent_p.V302V	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	302					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.V302V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		ACTTGAAGGTCTCTTCACAGA	0.343																																					p.V302V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906A	4						.						77.0	82.0	80.0					4																	108831517		2203	4300	6503	109050966	SO:0001819	synonymous_variant	166929	exon6			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.906C>A	4.37:g.108831517C>A			109050966	NM_001136257	A8K2S9|B2RA61	Silent	SNP	ENST00000394684.4	37	CCDS3677.1																																																																																				0.343	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
SGMS2	166929	broad.mit.edu	37	4	108831604	108831604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108831604C>A	ENST00000394684.4	+	7	1550	c.993C>A	c.(991-993)tgC>tgA	p.C331*	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Nonsense_Mutation_p.C331*|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Nonsense_Mutation_p.C331*	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	331					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.C331*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		CAATTCCTTGCTGCTTCTCCT	0.423																																					p.C331X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C993A	4						.						68.0	71.0	70.0					4																	108831604		2203	4300	6503	109051053	SO:0001587	stop_gained	166929	exon6			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.993C>A	4.37:g.108831604C>A	ENSP00000378176:p.Cys331*		109051053	NM_001136257	A8K2S9|B2RA61	Nonsense_Mutation	SNP	ENST00000394684.4	37	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	41	8.855715	0.98980	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	.	.	.	6.07	5.24	0.73138	.	0.082501	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-16.6966	12.1502	0.54046	0.0:0.864:0.0:0.136	.	.	.	.	X	331	.	ENSP00000351981:C331X	C	+	3	2	SGMS2	109051053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.935000	0.28924	1.583000	0.49898	0.655000	0.94253	TGC		0.423	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
SGMS2	166929	broad.mit.edu	37	4	108831700	108831700	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108831700A>C	ENST00000394684.4	+	7	1646	c.1089A>C	c.(1087-1089)aaA>aaC	p.K363N	RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K363N|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.K363N	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	363					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.K363N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		ACAATGAGAAATCGACCTGAG	0.428																																					p.K363N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1089C	4						.						44.0	45.0	44.0					4																	108831700		2203	4300	6503	109051149	SO:0001583	missense	166929	exon6			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.1089A>C	4.37:g.108831700A>C	ENSP00000378176:p.Lys363Asn		109051149	NM_001136257	A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990302	0.74589	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.51817	0.69;0.69;0.69	6.07	1.13	0.20643	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	N	0.22421	0.69	0.44492	D	0.997432	D	0.57899	0.981	D	0.67231	0.95	T	0.45659	-0.9246	10	0.87932	D	0	-8.7719	10.0094	0.41977	0.4309:0.0:0.5691:0.0	.	363	Q8NHU3	SMS2_HUMAN	N	363	ENSP00000378176:K363N;ENSP00000351981:K363N;ENSP00000378178:K363N	ENSP00000351981:K363N	K	+	3	2	SGMS2	109051149	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.181000	0.32017	-0.043000	0.13513	0.533000	0.62120	AAA		0.428	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
HADH	3033	broad.mit.edu	37	4	108930969	108930969	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:108930969C>T	ENST00000309522.3	+	2	336	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	HADH_ENST00000505878.1_Silent_p.L67L|HADH_ENST00000603302.1_Silent_p.L63L|HADH_ENST00000454409.2_Silent_p.L67L|HADH_ENST00000403312.1_Silent_p.L122L	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	397					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.L63L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AGAGGACATCCTGGCAAAATC	0.378																																					p.L63L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C187T	4						.						99.0	98.0	98.0					4																	108930969		2203	4300	6503	109150418	SO:0001819	synonymous_variant	3033	exon2			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.187C>T	4.37:g.108930969C>T			109150418	NM_001184705	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000309522.3	37	CCDS3678.1																																																																																				0.378	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327	
ETNPPL	64850	broad.mit.edu	37	4	109680999	109680999	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:109680999A>G	ENST00000296486.3	-	3	395	c.241T>C	c.(241-243)Tct>Cct	p.S81P	ETNPPL_ENST00000510706.1_Missense_Mutation_p.S41P|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S75P|ETNPPL_ENST00000512646.1_Missense_Mutation_p.S23P	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	81						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.S81P(1)									AGGAATCGAGAATTTGTATTT	0.418																																					p.S23P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T67C	4						.						104.0	91.0	96.0					4																	109680999		2203	4300	6503	109900448	SO:0001583	missense	64850	exon2			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.241T>C	4.37:g.109680999A>G	ENSP00000296486:p.Ser81Pro		109900448	NM_001146627	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254225	0.22965	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706;ENST00000512320;ENST00000510723	T;T;T;T;D;D	0.85702	0.79;0.79;0.79;0.79;-2.02;-2.02	5.26	5.26	0.73747	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.181683	0.49916	N	0.000127	D	0.85177	0.5637	L	0.61036	1.89	0.51767	D	0.999935	P;B;B	0.37636	0.603;0.175;0.097	B;B;B	0.41764	0.366;0.132;0.16	D	0.84122	0.0407	9	.	.	.	-8.9024	15.1514	0.72703	1.0:0.0:0.0:0.0	.	23;75;81	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	P	81;75;23;41;8;23	ENSP00000296486:S81P;ENSP00000392269:S75P;ENSP00000427065:S23P;ENSP00000423240:S41P;ENSP00000421217:S8P;ENSP00000426525:S23P	.	S	-	1	0	AGXT2L1	109900448	1.000000	0.71417	0.139000	0.22197	0.759000	0.43091	4.920000	0.63390	1.978000	0.57642	0.455000	0.32223	TCT		0.418	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
HS3ST1	9957	broad.mit.edu	37	4	11400771	11400771	+	Missense_Mutation	SNP	C	C	T	rs370389171		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:11400771C>T	ENST00000002596.5	-	2	2033	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	287					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.E287K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGAAAATATTCGTGCAGTTTA	0.488																																					p.E287K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G859A	4						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81.0	84.0	83.0		859	5.5	0.9	4		83	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	287/308	11400771	1,13005	2203	4300	6503	11009869	SO:0001583	missense	9957	exon2			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.859G>A	4.37:g.11400771C>T	ENSP00000002596:p.Glu287Lys		11009869	NM_005114	B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191182	0.09547	2.27E-4	0.0	ENSG00000002587	ENST00000002596	T	0.55930	0.49	5.49	5.49	0.81192	Sulfotransferase domain (1);	0.350601	0.29653	N	0.011541	T	0.31606	0.0802	N	0.03177	-0.4	0.43708	D	0.99617	B	0.14438	0.01	B	0.10450	0.005	T	0.15607	-1.0431	10	0.16896	T	0.51	.	18.3674	0.90396	0.0:1.0:0.0:0.0	.	287	O14792	HS3S1_HUMAN	K	287	ENSP00000002596:E287K	ENSP00000002596:E287K	E	-	1	0	HS3ST1	11009869	0.996000	0.38824	0.918000	0.36340	0.411000	0.31082	2.461000	0.45040	2.571000	0.86741	0.655000	0.94253	GAA		0.488	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
ETNPPL	64850	broad.mit.edu	37	4	109681437	109681437	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:109681437A>G	ENST00000296486.3	-	2	236	c.82T>C	c.(82-84)Tcg>Ccg	p.S28P	ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S28P|ETNPPL_ENST00000512646.1_Intron	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	28						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.S28P(1)									ATGGGATCCGATGCAAAGAAA	0.433																																					p.S28P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T82C	4						.						92.0	92.0	92.0					4																	109681437		2203	4300	6503	109900886	SO:0001583	missense	64850	exon2			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.82T>C	4.37:g.109681437A>G	ENSP00000296486:p.Ser28Pro		109900886	NM_001146590	B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863783	0.51482	.	.	ENSG00000164089	ENST00000296486;ENST00000411864	T;T	0.42131	0.98;0.98	5.65	3.64	0.41730	.	0.543643	0.20194	N	0.097260	T	0.33265	0.0857	L	0.47190	1.495	0.80722	D	1	B;B	0.26744	0.134;0.158	B;B	0.35899	0.213;0.078	T	0.21793	-1.0235	9	.	.	.	-2.8329	1.9344	0.03333	0.3288:0.4049:0.0:0.2663	.	28;28	Q8TBG4-2;Q8TBG4	.;AT2L1_HUMAN	P	28	ENSP00000296486:S28P;ENSP00000392269:S28P	.	S	-	1	0	AGXT2L1	109900886	0.970000	0.33590	0.994000	0.49952	0.947000	0.59692	2.541000	0.45735	1.360000	0.45960	-0.445000	0.05633	TCG		0.433	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279	
COL25A1	84570	broad.mit.edu	37	4	110223040	110223040	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110223040C>T	ENST00000399132.1	-	2	666	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Missense_Mutation_p.V46M|COL25A1_ENST00000399127.1_Missense_Mutation_p.V46M	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.V46M(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAAGACACCACGGCCACCACT	0.662																																					p.V46M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	4						.						59.0	65.0	63.0					4																	110223040		2015	4162	6177	110442489	SO:0001583	missense	84570	exon2			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.136G>A	4.37:g.110223040C>T	ENSP00000382083:p.Val46Met		110442489	NM_198721		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325249	0.24080	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653;ENST00000505591	D;D;D	0.91945	-2.73;-2.85;-2.94	5.62	0.469	0.16741	.	0.775582	0.10957	N	0.615390	T	0.77157	0.4089	N	0.17082	0.46	0.19945	N	0.999946	P;B;B	0.41041	0.736;0.02;0.1	B;B;B	0.24394	0.053;0.01;0.012	T	0.68375	-0.5425	9	.	.	.	0.0096	3.1173	0.06379	0.1163:0.2821:0.4065:0.1951	.	46;46;46	A8MWQ5;Q9BXS0-2;Q9BXS0	.;.;COPA1_HUMAN	M	46	ENSP00000382083:V46M;ENSP00000382078:V46M;ENSP00000382077:V46M	.	V	-	1	0	COL25A1	110442489	0.000000	0.05858	0.029000	0.17559	0.580000	0.36256	-0.097000	0.11042	-0.187000	0.10516	-0.310000	0.09108	GTG		0.662	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
SEC24B	10427	broad.mit.edu	37	4	110447413	110447413	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110447413C>A	ENST00000265175.5	+	17	2878	c.2823C>A	c.(2821-2823)ttC>ttA	p.F941L	SEC24B_ENST00000504968.2_Missense_Mutation_p.F971L|SEC24B_ENST00000399100.2_Missense_Mutation_p.F906L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	941					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.F906L(1)|p.F941L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACGGTAACTTCTTTGTCCGTT	0.353																																					p.F941L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2823A	4						.						204.0	186.0	191.0					4																	110447413		1855	4095	5950	110666862	SO:0001583	missense	10427	exon17			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2823C>A	4.37:g.110447413C>A	ENSP00000265175:p.Phe941Leu		110666862	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037459	0.75617	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.74421	-0.84;-0.84;-0.84	5.21	2.05	0.26809	Sec23/Sec24 beta-sandwich (1);	0.147998	0.64402	D	0.000009	T	0.79112	0.4391	M	0.78916	2.43	0.80722	D	1	P;P;D;P;P	0.63880	0.866;0.866;0.993;0.837;0.923	P;P;P;P;P	0.60068	0.618;0.6;0.868;0.69;0.632	T	0.76282	-0.3016	10	0.59425	D	0.04	-18.3042	2.5613	0.04772	0.2175:0.3511:0.0:0.4314	.	855;540;971;906;941	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	L	971;906;941	ENSP00000428564:F971L;ENSP00000382051:F906L;ENSP00000265175:F941L	ENSP00000265175:F941L	F	+	3	2	SEC24B	110666862	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.119000	0.31258	0.711000	0.32018	-0.218000	0.12543	TTC		0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
CASP6	839	broad.mit.edu	37	4	110610629	110610629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110610629C>A	ENST00000265164.2	-	7	816	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000352981.3_Nonsense_Mutation_p.E158*|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	247					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)	p.E247K(1)|p.E247*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GTGAGGAGTTCTGTGAACTCT	0.453																																					p.E247X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G739T	4						.						72.0	74.0	74.0					4																	110610629		2203	4300	6503	110830078	SO:0001587	stop_gained	839	exon7			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.739G>T	4.37:g.110610629C>A	ENSP00000265164:p.Glu247*		110830078	NM_001226	Q9BQE7	Nonsense_Mutation	SNP	ENST00000265164.2	37	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	C	37	6.411531	0.97546	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	158;247	.	ENSP00000265164:E247X	E	-	1	0	CASP6	110830078	1.000000	0.71417	0.948000	0.38648	0.987000	0.75469	5.611000	0.67674	2.941000	0.99782	0.655000	0.94253	GAA		0.453	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226	
RRH	10692	broad.mit.edu	37	4	110749191	110749191	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110749191G>T	ENST00000317735.4	+	1	42	c.8G>T	c.(7-9)aGa>aTa	p.R3I		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	3					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.R3I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AAAATGCTAAGAAATAATTTA	0.368																																					p.R3I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8T	4						.						131.0	133.0	133.0					4																	110749191		2203	4300	6503	110968640	SO:0001583	missense	10692	exon1			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.8G>T	4.37:g.110749191G>T	ENSP00000314992:p.Arg3Ile		110968640	NM_006583	A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079779	0.36662	.	.	ENSG00000180245	ENST00000317735	T	0.56611	0.45	5.83	0.0298	0.14164	.	1.411240	0.03622	N	0.236608	T	0.42585	0.1209	L	0.40543	1.245	0.09310	N	0.999996	B	0.30763	0.294	B	0.19391	0.025	T	0.38394	-0.9663	10	0.87932	D	0	.	7.0653	0.25149	0.3858:0.0:0.5059:0.1084	.	3	O14718	OPSX_HUMAN	I	3	ENSP00000314992:R3I	ENSP00000314992:R3I	R	+	2	0	RRH	110968640	0.867000	0.29959	0.078000	0.20375	0.909000	0.53808	0.379000	0.20585	0.017000	0.15025	-0.237000	0.12165	AGA		0.368	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583	
RRH	10692	broad.mit.edu	37	4	110754463	110754463	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110754463A>C	ENST00000317735.4	+	2	309	c.275A>C	c.(274-276)aAa>aCa	p.K92T		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	92					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.K92T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GGAAGTTGGAAATTTGGATAC	0.373																																					p.K92T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275C	4						.						71.0	66.0	68.0					4																	110754463		2203	4300	6503	110973912	SO:0001583	missense	10692	exon2			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.275A>C	4.37:g.110754463A>C	ENSP00000314992:p.Lys92Thr		110973912	NM_006583	A1A4V2|Q7RTS4	Missense_Mutation	SNP	ENST00000317735.4	37	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955032	0.73902	.	.	ENSG00000180245	ENST00000317735	T	0.19250	2.16	4.94	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.045911	0.85682	D	0.000000	T	0.31199	0.0789	L	0.33245	0.995	0.58432	D	0.999995	D	0.69078	0.997	D	0.67231	0.95	T	0.02683	-1.1124	10	0.66056	D	0.02	.	10.4659	0.44607	0.9223:0.0:0.0776:0.0	.	92	O14718	OPSX_HUMAN	T	92	ENSP00000314992:K92T	ENSP00000314992:K92T	K	+	2	0	RRH	110973912	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.973000	0.63763	0.829000	0.34733	0.482000	0.46254	AAA		0.373	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583	
LRIT3	345193	broad.mit.edu	37	4	110788880	110788880	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110788880C>A	ENST00000594814.1	+	3	673	c.673C>A	c.(673-675)Ctt>Att	p.L225I	LRIT3_ENST00000409621.2_Missense_Mutation_p.L42I|LRIT3_ENST00000327908.3_Missense_Mutation_p.L42I|LRIT3_ENST00000379920.3_Missense_Mutation_p.L180I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	225	LRRCT.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L180I(1)|p.L42I(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGCTATAGTGCTTCTGGATCC	0.458																																					p.L180I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C538A	4						.						146.0	123.0	131.0					4																	110788880		2203	4300	6503	111008329	SO:0001583	missense	345193	exon2			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.673C>A	4.37:g.110788880C>A	ENSP00000469759:p.Leu225Ile		111008329	NM_198506	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791715	0.70452	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.59224	0.28;0.66;0.28	5.88	5.03	0.67393	.	0.062538	0.64402	D	0.000003	T	0.76004	0.3927	M	0.84683	2.71	0.42268	D	0.992044	D;D	0.89917	0.998;1.0	D;D	0.74023	0.942;0.982	T	0.78595	-0.2143	10	0.59425	D	0.04	.	11.5643	0.50796	0.0:0.8629:0.0:0.1371	.	180;42	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	I	42;180;42	ENSP00000328222:L42I;ENSP00000369252:L180I;ENSP00000386734:L42I	ENSP00000328222:L42I	L	+	1	0	LRIT3	111008329	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	1.932000	0.40143	2.789000	0.95967	0.655000	0.94253	CTT		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
LRIT3	345193	broad.mit.edu	37	4	110791167	110791167	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:110791167C>A	ENST00000594814.1	+	4	1262	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	LRIT3_ENST00000409621.2_Missense_Mutation_p.S238Y|LRIT3_ENST00000327908.3_Missense_Mutation_p.S238Y|LRIT3_ENST00000379920.3_Missense_Mutation_p.S376Y	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	421	Ser-rich.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S238Y(1)|p.S376Y(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		tccactgtttcttcAACCACA	0.468																																					p.S376Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1127A	4						.						130.0	122.0	125.0					4																	110791167		2203	4300	6503	111010616	SO:0001583	missense	345193	exon3			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1262C>A	4.37:g.110791167C>A	ENSP00000469759:p.Ser421Tyr		111010616	NM_198506	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	C	12.80	2.048021	0.36085	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.59638	0.25;0.44;0.25	4.8	3.95	0.45737	.	0.659654	0.15802	N	0.243901	T	0.53077	0.1774	L	0.36672	1.1	0.09310	N	1	P;P	0.49635	0.764;0.926	B;P	0.47528	0.2;0.549	T	0.49062	-0.8978	10	0.66056	D	0.02	.	11.2857	0.49220	0.0:0.9065:0.0:0.0935	.	376;238	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	Y	238;376;238	ENSP00000328222:S238Y;ENSP00000369252:S376Y;ENSP00000386734:S238Y	ENSP00000328222:S238Y	S	+	2	0	LRIT3	111010616	0.973000	0.33851	0.250000	0.24296	0.509000	0.34042	3.724000	0.54962	2.198000	0.70561	0.655000	0.94253	TCT		0.468	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506	
ENPEP	2028	broad.mit.edu	37	4	111441454	111441454	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:111441454G>T	ENST00000265162.5	+	10	2001	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	553					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K553N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACGGTGTCAAGAACATCACAC	0.438																																					p.K553N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1659T	4						.						140.0	125.0	130.0					4																	111441454		2203	4300	6503	111660903	SO:0001583	missense	2028	exon10			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1659G>T	4.37:g.111441454G>T	ENSP00000265162:p.Lys553Asn		111660903	NM_001977	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	4.198	0.035426	0.08148	.	.	ENSG00000138792	ENST00000265162	T	0.01388	4.95	5.52	-2.64	0.06114	.	1.013650	0.07876	N	0.968808	T	0.00845	0.0028	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49409	-0.8943	10	0.14656	T	0.56	.	1.0552	0.01589	0.3015:0.1029:0.1786:0.4171	.	553	Q07075	AMPE_HUMAN	N	553	ENSP00000265162:K553N	ENSP00000265162:K553N	K	+	3	2	ENPEP	111660903	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.091000	0.11146	-0.206000	0.10203	-0.142000	0.14014	AAG		0.438	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
NEUROG2	63973	broad.mit.edu	37	4	113436164	113436164	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:113436164G>A	ENST00000313341.3	-	2	794	c.468C>T	c.(466-468)ttC>ttT	p.F156F	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	156	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.F156F(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGTTGTGGGCGAAGCGCAGGG	0.701																																					p.F156F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	4						.						48.0	48.0	48.0					4																	113436164		2203	4300	6503	113655613	SO:0001819	synonymous_variant	63973	exon2			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.468C>T	4.37:g.113436164G>A			113655613	NM_024019	Q8N416	Silent	SNP	ENST00000313341.3	37	CCDS3698.1																																																																																				0.701	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019	
ZGRF1	55345	broad.mit.edu	37	4	113527240	113527240	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:113527240G>T	ENST00000505019.1	-	9	2851	c.2726C>A	c.(2725-2727)tCc>tAc	p.S909Y	C4orf21_ENST00000309071.5_Missense_Mutation_p.S909Y	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		909						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S909Y(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACTTCCCGAGGAAGAGAACTA	0.323																																					p.S909Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2726A	4						.						66.0	75.0	72.0					4																	113527240		2203	4299	6502	113746689	SO:0001583	missense	55345	exon9																														ENST00000505019.1:c.2726C>A	4.37:g.113527240G>T	ENSP00000424737:p.Ser909Tyr		113746689	NM_018392	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	G	14.71	2.617942	0.46736	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.84070	-1.8;1.69	5.03	5.03	0.67393	.	1.159930	0.06414	N	0.721095	D	0.88043	0.6331	L	0.47716	1.5	0.80722	D	1	D;D	0.58620	0.971;0.983	P;P	0.58873	0.751;0.847	T	0.80672	-0.1278	10	0.72032	D	0.01	5.5705	13.8469	0.63472	0.0:0.0:1.0:0.0	.	909;909	Q86YA3;G5EA02	CD021_HUMAN;.	Y	909	ENSP00000424737:S909Y;ENSP00000309095:S909Y	ENSP00000309095:S909Y	S	-	2	0	C4orf21	113746689	0.997000	0.39634	0.457000	0.27056	0.840000	0.47671	3.421000	0.52742	2.315000	0.78130	0.650000	0.86243	TCC		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
ANK2	287	broad.mit.edu	37	4	114195738	114195738	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114195738G>A	ENST00000357077.4	+	15	1669	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	ANK2_ENST00000264366.6_Missense_Mutation_p.R539Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R539Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R518Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	539					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R539Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTCTGCCCGGGAGGGCCAG	0.527																																					p.R539Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616A	4						.						92.0	90.0	91.0					4																	114195738		2203	4300	6503	114415187	SO:0001583	missense	287	exon15			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1616G>A	4.37:g.114195738G>A	ENSP00000349588:p.Arg539Gln		114415187	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	36	5.839351	0.97009	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000059	T	0.64962	0.2646	N	0.10733	0.035	0.80722	D	1	D;P;D;P;D	0.89917	1.0;0.93;0.996;0.679;0.985	D;B;P;B;P	0.77557	0.99;0.156;0.827;0.069;0.685	T	0.71712	-0.4510	10	0.51188	T	0.08	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	539;539;539;518;518	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	518;518;518;554;539;539;539;518	ENSP00000423799:R518Q;ENSP00000421011:R518Q;ENSP00000421067:R518Q;ENSP00000424722:R554Q;ENSP00000378044:R539Q;ENSP00000349588:R539Q;ENSP00000264366:R539Q	ENSP00000264366:R539Q	R	+	2	0	ANK2	114415187	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.792000	0.99085	2.631000	0.89168	0.650000	0.86243	CGG		0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114274518	114274518	+	Missense_Mutation	SNP	C	C	T	rs35249198	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114274518C>T	ENST00000357077.4	+	38	4797	c.4744C>T	c.(4744-4746)Cgg>Tgg	p.R1582W	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1549W|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1582					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1582W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGAGCTCTCGGTCTGAGAG	0.408													C|||	16	0.00319489	0.0106	0.0	5008	,	,		21394	0.0		0.002	False		,,,				2504	0.0				p.R1582W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4744T	4						.	C	,TRP/ARG,	39,4367	40.0+/-72.8	1,37,2165	81.0	87.0	85.0		,4744,	4.0	0.0	4	dbSNP_126	85	10,8590	7.7+/-29.5	0,10,4290	yes	intron,missense,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,101,	1,47,6455	TT,TC,CC		0.1163,0.8852,0.3767	,possibly-damaging,	,1582/3958,	114274518	49,12957	2203	4300	6503	114493967	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4744C>T	4.37:g.114274518C>T	ENSP00000349588:p.Arg1582Trp		114493967	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	9	0.004120879120879121	7	0.014227642276422764	0	0.0	0	0.0	2	0.002638522427440633	C	7.739	0.700973	0.15172	0.008852	0.001163	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.68181	-0.06;-0.16;-0.27;-0.31	4.9	4.03	0.46877	.	1.073890	0.07232	N	0.862650	T	0.53706	0.1813	N	0.19112	0.55	0.37583	D	0.919903	P;D	0.56521	0.914;0.976	B;P	0.49047	0.316;0.599	T	0.54721	-0.8251	10	0.66056	D	0.02	.	11.0745	0.48023	0.1448:0.7156:0.1396:0.0	rs35249198	1549;1582	Q01484;Q01484-4	ANK2_HUMAN;.	W	1495;1597;1582;1549	ENSP00000421011:R1495W;ENSP00000424722:R1597W;ENSP00000349588:R1582W;ENSP00000264366:R1549W	ENSP00000264366:R1549W	R	+	1	2	ANK2	114493967	0.638000	0.27225	0.016000	0.15963	0.010000	0.07245	2.117000	0.41939	1.152000	0.42452	0.557000	0.71058	CGG		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114275276	114275276	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114275276C>A	ENST00000357077.4	+	38	5555	c.5502C>A	c.(5500-5502)tcC>tcA	p.S1834S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.S1801S|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1834	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1834S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTACTCTTTCCTCTTCCGCAA	0.507																																					p.S1834S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5502A	4						.						116.0	124.0	121.0					4																	114275276		2203	4300	6503	114494725	SO:0001819	synonymous_variant	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5502C>A	4.37:g.114275276C>A			114494725	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114290809	114290809	+	Missense_Mutation	SNP	C	C	T	rs199922285	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114290809C>T	ENST00000357077.4	+	43	11511	c.11458C>T	c.(11458-11460)Cgg>Tgg	p.R3820W	ANK2_ENST00000510275.2_Missense_Mutation_p.R387W|ANK2_ENST00000264366.6_Missense_Mutation_p.R3787W|ANK2_ENST00000509550.1_Missense_Mutation_p.R911W|ANK2_ENST00000394537.3_Missense_Mutation_p.R1735W|ANK2_ENST00000506722.1_Missense_Mutation_p.R1726W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3820					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3820W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAGCGAGCGGGGAGGCTC	0.577													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17408	0.0		0.0	False		,,,				2504	0.001				p.R1735W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5203T	4						.						59.0	59.0	59.0					4																	114290809		2203	4300	6503	114510258	SO:0001583	missense	287	exon42			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11458C>T	4.37:g.114290809C>T	ENSP00000349588:p.Arg3820Trp		114510258	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	11.87|11.87	1.767170|1.767170	0.31320|0.31320	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96300	.|-0.31;-0.29;-0.33;-0.34;-1.07;-2.06;-3.97	5.55|5.55	1.72|1.72	0.24424|0.24424	.|.	.|1.413780	.|0.04913	.|N	.|0.453559	D|D	0.93562|0.93562	0.7945|0.7945	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|P;B;P;D;B;B	.|0.57257	.|0.88;0.003;0.66;0.979;0.018;0.02	.|B;B;B;B;B;B	.|0.43123	.|0.153;0.002;0.083;0.409;0.01;0.021	D|D	0.85641|0.85641	0.1276|0.1276	5|10	.|0.87932	.|D	.|0	.|.	5.8414|5.8414	0.18635|0.18635	0.3686:0.4574:0.109:0.065|0.3686:0.4574:0.109:0.065	.|.	.|911;770;736;1735;3820;1726	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	V|W	736|1726;770;1735;3820;3787;1726;911;387;830	.|ENSP00000421067:R1726W;ENSP00000378044:R1735W;ENSP00000349588:R3820W;ENSP00000264366:R3787W;ENSP00000426944:R911W;ENSP00000421023:R387W;ENSP00000422498:R830W	.|ENSP00000264366:R3787W	A|R	+|+	2|1	0|2	ANK2|ANK2	114510258|114510258	0.008000|0.008000	0.16893|0.16893	0.001000|0.001000	0.08648|0.08648	0.042000|0.042000	0.13812|0.13812	0.219000|0.219000	0.17641|0.17641	0.058000|0.058000	0.16222|0.16222	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.577	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
CAMK2D	817	broad.mit.edu	37	4	114469873	114469873	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114469873C>A	ENST00000342666.5	-	6	353	c.354G>T	c.(352-354)caG>caT	p.Q118H	CAMK2D_ENST00000454265.2_Missense_Mutation_p.Q118H|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Q118H|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Q118H|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Q118H|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Q118H|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Q118H|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Q118H|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Q118H|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Q118H|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Q118H|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Q118H			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)	p.Q118H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTAGAATCTGCTGTATACAAT	0.363																																					p.Q118H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G354T	4						.						89.0	85.0	87.0					4																	114469873		2203	4300	6503	114689322	SO:0001583	missense	817	exon6			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.354G>T	4.37:g.114469873C>A	ENSP00000339740:p.Gln118His		114689322	NM_172115	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811753	0.50527	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.53	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	N	0.10685	0.025	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.15809	-1.0424	10	0.24483	T	0.36	.	13.4644	0.61245	0.0:0.9235:0.0:0.0765	.	118;118;118;118	Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;KCC2D_HUMAN	H	118	ENSP00000378032:Q118H;ENSP00000415248:Q118H;ENSP00000415707:Q118H;ENSP00000406131:Q118H;ENSP00000378034:Q118H;ENSP00000296402:Q118H;ENSP00000339740:Q118H;ENSP00000423482:Q118H;ENSP00000423677:Q118H;ENSP00000378030:Q118H;ENSP00000369098:Q118H;ENSP00000422566:Q118H	ENSP00000296402:Q118H	Q	-	3	2	CAMK2D	114689322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.515000	0.60489	1.313000	0.45069	0.650000	0.86243	CAG		0.363	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2		
ARSJ	79642	broad.mit.edu	37	4	114824392	114824392	+	Missense_Mutation	SNP	C	C	T	rs200459738		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114824392C>T	ENST00000315366.7	-	2	1704	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	280					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E280K(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGTAGTGTTCGAAATACCTG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22078	0.001		0.0	False		,,,				2504	0.0				p.E280K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	4						.						119.0	110.0	112.0					4																	114824392		1962	4167	6129	115043841	SO:0001583	missense	79642	exon2				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.838G>A	4.37:g.114824392C>T	ENSP00000320219:p.Glu280Lys		115043841	NM_024590	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189605	0.09547	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96427	-4.01;-4.01	5.64	3.92	0.45320	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.134780	0.48286	N	0.000188	D	0.90577	0.7046	N	0.12961	0.28	0.37040	D	0.897114	P;P	0.38617	0.64;0.64	B;B	0.40199	0.265;0.322	D	0.87832	0.2645	10	0.10902	T	0.67	.	11.9815	0.53123	0.0:0.8604:0.0:0.1396	.	280;280	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	K	280	ENSP00000320219:E280K;ENSP00000438836:E280K	ENSP00000320219:E280K	E	-	1	0	ARSJ	115043841	0.998000	0.40836	0.501000	0.27601	0.948000	0.59901	2.351000	0.44071	0.745000	0.32763	0.655000	0.94253	GAA		0.418	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590	
ARSJ	79642	broad.mit.edu	37	4	114824517	114824517	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:114824517G>A	ENST00000315366.7	-	2	1579	c.713C>T	c.(712-714)tCc>tTc	p.S238F	ARSJ_ENST00000541197.1_Missense_Mutation_p.S238F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	238					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.S238F(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CATCTGTGTGGAGTATATGCC	0.408																																					p.S238F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C713T	4						.						150.0	143.0	145.0					4																	114824517		2004	4178	6182	115043966	SO:0001583	missense	79642	exon2				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.713C>T	4.37:g.114824517G>A	ENSP00000320219:p.Ser238Phe		115043966	NM_024590	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139073	0.77775	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.98807	-5.15;-5.15	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	D	0.99158	0.9709	M	0.83852	2.665	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99568	1.0970	10	0.39692	T	0.17	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	238;238	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	F	238	ENSP00000320219:S238F;ENSP00000438836:S238F	ENSP00000320219:S238F	S	-	2	0	ARSJ	115043966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.742000	0.98846	2.600000	0.87896	0.655000	0.94253	TCC		0.408	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590	
UGT8	7368	broad.mit.edu	37	4	115544340	115544340	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:115544340G>A	ENST00000310836.6	+	2	826	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	UGT8_ENST00000394511.3_Missense_Mutation_p.E102K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	102					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.E102K(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GACAGCAATCGAACTGTTTGA	0.463																																					p.E102K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G304A	4						.						147.0	144.0	145.0					4																	115544340		2203	4300	6503	115763789	SO:0001583	missense	7368	exon2			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.304G>A	4.37:g.115544340G>A	ENSP00000311648:p.Glu102Lys		115763789	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491704	0.84962	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07688	3.17;3.17;3.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	N	0.17594	0.5	0.80722	D	1	P	0.34837	0.472	B	0.34824	0.19	T	0.47381	-0.9122	10	0.15499	T	0.54	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	102	Q16880	CGT_HUMAN	K	102	ENSP00000311648:E102K;ENSP00000421446:E102K;ENSP00000378019:E102K	ENSP00000311648:E102K	E	+	1	0	UGT8	115763789	1.000000	0.71417	0.941000	0.38009	0.974000	0.67602	7.614000	0.82996	2.590000	0.87494	0.650000	0.86243	GAA		0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
UGT8	7368	broad.mit.edu	37	4	115597407	115597407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:115597407G>T	ENST00000310836.6	+	6	2111	c.1589G>T	c.(1588-1590)aGa>aTa	p.R530I	UGT8_ENST00000394511.3_Missense_Mutation_p.R530I	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	530					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.R530I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AAGTACAAAAGAAATGGCCAT	0.318																																					p.R530I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589T	4						.						73.0	71.0	72.0					4																	115597407		2203	4300	6503	115816856	SO:0001583	missense	7368	exon6			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1589G>T	4.37:g.115597407G>T	ENSP00000311648:p.Arg530Ile		115816856	NM_001128174	B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259837	0.59321	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.61158	0.13;0.13	6.06	5.22	0.72569	.	0.377447	0.34507	N	0.003918	T	0.39384	0.1076	N	0.08118	0	0.49798	D	0.999829	B	0.22480	0.07	B	0.28011	0.085	T	0.34551	-0.9824	10	0.62326	D	0.03	.	11.1657	0.48541	0.139:0.0:0.861:0.0	.	530	Q16880	CGT_HUMAN	I	530	ENSP00000311648:R530I;ENSP00000378019:R530I	ENSP00000311648:R530I	R	+	2	0	UGT8	115816856	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.660000	0.61511	1.569000	0.49696	0.655000	0.94253	AGA		0.318	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360	
METTL14	57721	broad.mit.edu	37	4	119631236	119631236	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:119631236T>C	ENST00000388822.5	+	11	1317	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	METTL14_ENST00000506780.1_Missense_Mutation_p.Y346H			Q9HCE5	MET14_HUMAN	methyltransferase like 14	384					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.Y384H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TCCTAATTCCTACTTGACTGG	0.458																																					p.Y384H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1150C	4						.						104.0	105.0	105.0					4																	119631236		2203	4300	6503	119850684	SO:0001583	missense	57721	exon11			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1150T>C	4.37:g.119631236T>C	ENSP00000373474:p.Tyr384His		119850684	NM_020961	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454091	0.26161	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	4.49	0.54785	.	0.277182	0.39834	N	0.001243	T	0.37073	0.0990	L	0.48642	1.525	0.34414	D	0.696669	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.39078	-0.9631	9	0.15499	T	0.54	-12.3521	3.2249	0.06729	0.0:0.3408:0.0:0.6592	.	346;384	D6RBL4;Q9HCE5	.;MTL14_HUMAN	H	384;346	.	ENSP00000373474:Y384H	Y	+	1	0	METTL14	119850684	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	2.457000	0.45005	2.141000	0.66446	0.528000	0.53228	TAC		0.458	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961	
MYOZ2	51778	broad.mit.edu	37	4	120085416	120085416	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120085416G>A	ENST00000307128.5	+	5	640	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_016599.4	NP_057683.1			myozenin 2									p.A143T(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAACACCACAGCTGTCCCTAA	0.398																																					p.A143T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G427A	4						.						74.0	76.0	75.0					4																	120085416		2203	4300	6503	120304864	SO:0001583	missense	51778	exon5			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.427G>A	4.37:g.120085416G>A	ENSP00000306997:p.Ala143Thr		120304864	NM_016599		Missense_Mutation	SNP	ENST00000307128.5	37	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470288	0.84533	.	.	ENSG00000172399	ENST00000307128	T	0.65732	-0.17	5.96	5.07	0.68467	.	0.258495	0.43260	D	0.000584	T	0.61223	0.2330	L	0.38531	1.155	0.46356	D	0.999002	P	0.48998	0.918	P	0.48425	0.577	T	0.64753	-0.6333	10	0.66056	D	0.02	-19.557	15.8698	0.79108	0.0:0.0:0.7924:0.2076	.	143	Q9NPC6	MYOZ2_HUMAN	T	143	ENSP00000306997:A143T	ENSP00000306997:A143T	A	+	1	0	MYOZ2	120304864	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.264000	0.51553	2.826000	0.97356	0.655000	0.94253	GCT		0.398	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
USP53	54532	broad.mit.edu	37	4	120166520	120166520	+	Missense_Mutation	SNP	G	G	A	rs201205533		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120166520G>A	ENST00000274030.6	+	6	1352	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	USP53_ENST00000450251.1_Missense_Mutation_p.R58Q	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.R58Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATTCCGACGAAGCTTGCGG	0.338																																					p.R58Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173A	4						.	G	GLN/ARG	0,3636		0,0,1818	214.0	193.0	200.0		173	5.2	1.0	4		200	5,8159		0,5,4077	yes	missense	USP53	NM_019050.2	43	0,5,5895	AA,AG,GG		0.0612,0.0,0.0424	probably-damaging	58/1074	120166520	5,11795	1818	4082	5900	120385968	SO:0001583	missense	54532	exon5			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.173G>A	4.37:g.120166520G>A	ENSP00000274030:p.Arg58Gln		120385968	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216619	0.79352	0.0	6.12E-4	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.30714	1.52;1.52	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.186606	0.47093	D	0.000253	T	0.43233	0.1238	M	0.79475	2.455	0.41149	D	0.986014	P	0.47484	0.896	B	0.43809	0.432	T	0.51100	-0.8748	10	0.52906	T	0.07	-5.0866	19.1462	0.93469	0.0:0.0:1.0:0.0	.	58	Q70EK8	UBP53_HUMAN	Q	58	ENSP00000274030:R58Q;ENSP00000409906:R58Q	ENSP00000274030:R58Q	R	+	2	0	USP53	120385968	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.641000	0.98458	2.583000	0.87209	0.655000	0.94253	CGA		0.338	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
FABP2	2169	broad.mit.edu	37	4	120240735	120240735	+	Missense_Mutation	SNP	C	C	T	rs375920710		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120240735C>T	ENST00000274024.3	-	3	591	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	102					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)	p.E102K(1)		breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	GTATTCAGTTCGTTTCCATTG	0.308																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	4						.	C	LYS/GLU	0,4406		0,0,2203	130.0	122.0	124.0		304	4.6	0.2	4		124	2,8598	2.2+/-6.3	0,2,4298	no	missense	FABP2	NM_000134.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	102/133	120240735	2,13004	2203	4300	6503	120460183	SO:0001583	missense	2169	exon3			J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.304G>A	4.37:g.120240735C>T	ENSP00000274024:p.Glu102Lys		120460183	NM_000134	Q2NKJ1	Missense_Mutation	SNP	ENST00000274024.3	37	CCDS3712.1	.	.	.	.	.	.	.	.	.	.	C	7.451	0.642691	0.14451	0.0	2.33E-4	ENSG00000145384	ENST00000274024	T	0.44083	0.93	5.49	4.64	0.57946	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.650519	0.16263	N	0.222132	T	0.31888	0.0811	L	0.31207	0.915	0.09310	N	1	B	0.32893	0.389	B	0.33521	0.165	T	0.13124	-1.0521	10	0.23891	T	0.37	.	13.3814	0.60768	0.0:0.9236:0.0:0.0764	.	102	P12104	FABPI_HUMAN	K	102	ENSP00000274024:E102K	ENSP00000274024:E102K	E	-	1	0	FABP2	120460183	0.000000	0.05858	0.203000	0.23512	0.639000	0.38242	1.151000	0.31651	2.589000	0.87451	0.650000	0.86243	GAA		0.308	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134	
PDE5A	8654	broad.mit.edu	37	4	120427077	120427077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120427077C>A	ENST00000354960.3	-	17	2519	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Nonsense_Mutation_p.E682*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.E692*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	734	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E734*(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCAAAAAATTCTCCTCGCCTC	0.318																																					p.E682X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2044T	4						.						37.0	40.0	39.0					4																	120427077		2198	4283	6481	120646525	SO:0001587	stop_gained	8654	exon17			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2200G>T	4.37:g.120427077C>A	ENSP00000347046:p.Glu734*		120646525	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Nonsense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.244632|11.244632	0.99536|0.99536	.|.	.|.	ENSG00000138735|ENSG00000138735	ENST00000503412|ENST00000354960;ENST00000394439;ENST00000264805	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.178545|0.178545	0.64402|0.64402	D|D	0.000012|0.000012	T|.	0.60038|.	0.2238|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50800|.	-0.8785|.	4|.	.|0.07990	.|T	.|0.79	.|.	19.9507|19.9507	0.97198|0.97198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	85|734;682;692	.|.	.|ENSP00000264805:E692X	E|E	-|-	3|1	2|0	PDE5A|PDE5A	120646525|120646525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.784000|6.784000	0.75084|0.75084	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.318	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
PDE5A	8654	broad.mit.edu	37	4	120428818	120428818	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120428818C>A	ENST00000354960.3	-	16	2449	c.2130G>T	c.(2128-2130)aaG>aaT	p.K710N	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.K658N|PDE5A_ENST00000264805.5_Missense_Mutation_p.K668N	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	710	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.K710N(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCAACGTGGTCTTATATTCTT	0.343																																					p.K658N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1974T	4						.						83.0	87.0	86.0					4																	120428818		2203	4300	6503	120648266	SO:0001583	missense	8654	exon16			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2130G>T	4.37:g.120428818C>A	ENSP00000347046:p.Lys710Asn		120648266	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.152547|4.152547	0.78001|0.78001	.|.	.|.	ENSG00000138735|ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805|ENST00000503412	D;D;D|.	0.81579|.	-1.51;-1.51;-1.51|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72630|0.72630	0.3484|0.3484	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	B;P|.	0.40332|.	0.135;0.713|.	B;B|.	0.34991|.	0.069;0.193|.	T|T	0.67114|0.67114	-0.5752|-0.5752	10|5	0.45353|.	T|.	0.12|.	.|.	20.3658|20.3658	0.98878|0.98878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	710;668|.	O76074;O76074-2|.	PDE5A_HUMAN;.|.	N|I	710;658;668|62	ENSP00000347046:K710N;ENSP00000377957:K658N;ENSP00000264805:K668N|.	ENSP00000264805:K668N|.	K|R	-|-	3|2	2|0	PDE5A|PDE5A	120648266|120648266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	2.233000|2.233000	0.43027|0.43027	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
PDE5A	8654	broad.mit.edu	37	4	120463729	120463729	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:120463729C>T	ENST00000354960.3	-	10	1776	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.R434Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.R444Q|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	486	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R486Q(1)|p.L27L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TTCGTCATTTCGGTTGAAAGG	0.428																																					p.R434Q												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1301A	4						.						138.0	131.0	133.0					4																	120463729		2203	4300	6503	120683177	SO:0001583	missense	8654	exon10			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1457G>A	4.37:g.120463729C>T	ENSP00000347046:p.Arg486Gln		120683177	NM_033437	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604420	0.46423	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	3.57	0.40892	GAF (2);	0.344730	0.31847	N	0.006976	T	0.58609	0.2134	M	0.62723	1.935	0.40446	D	0.980095	B;B	0.10296	0.002;0.003	B;B	0.11329	0.006;0.004	T	0.53788	-0.8389	10	0.36615	T	0.2	.	6.167	0.20396	0.1513:0.6938:0.0:0.1549	.	486;444	O76074;O76074-2	PDE5A_HUMAN;.	Q	486;434;444	ENSP00000347046:R486Q;ENSP00000377957:R434Q;ENSP00000264805:R444Q	ENSP00000264805:R444Q	R	-	2	0	PDE5A	120683177	1.000000	0.71417	0.657000	0.29651	0.989000	0.77384	4.917000	0.63369	0.696000	0.31696	0.650000	0.86243	CGA		0.428	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	
PRDM5	11107	broad.mit.edu	37	4	121698424	121698424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:121698424C>A	ENST00000264808.3	-	13	1696	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.E455*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.E455*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	486					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E486*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCTCCTTTTCTCCTGTATGT	0.373																																					p.E486X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1456T	4						.						130.0	117.0	121.0					4																	121698424		2203	4300	6503	121917874	SO:0001587	stop_gained	11107	exon13			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1456G>T	4.37:g.121698424C>A	ENSP00000264808:p.Glu486*		121917874	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	40	8.326581	0.98762	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.42	4.58	0.56647	.	0.100029	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.8234	12.5191	0.56048	0.0:0.9231:0.0:0.0769	.	.	.	.	X	486;455;455	.	ENSP00000264808:E486X	E	-	1	0	PRDM5	121917874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.552000	0.82192	1.306000	0.44926	0.650000	0.86243	GAA		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
NDNF	79625	broad.mit.edu	37	4	121958608	121958608	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:121958608T>C	ENST00000379692.4	-	4	1044	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	173					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.Y173C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAACTCAGGGTATGGCTGATC	0.483																																					p.Y173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A518G	4						.						192.0	195.0	194.0					4																	121958608		2062	4206	6268	122178058	SO:0001583	missense	79625	exon4			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.518A>G	4.37:g.121958608T>C	ENSP00000369014:p.Tyr173Cys		122178058	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	T	18.05	3.535992	0.64972	.	.	ENSG00000173376	ENST00000379692	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79560	-0.1753	9	0.87932	D	0	-27.6376	16.6093	0.84858	0.0:0.0:0.0:1.0	.	173	Q8TB73	NDNF_HUMAN	C	173	.	ENSP00000369014:Y173C	Y	-	2	0	NDNF	122178058	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	8.012000	0.88631	2.324000	0.78689	0.533000	0.62120	TAC		0.483	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
NDNF	79625	broad.mit.edu	37	4	121966825	121966825	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:121966825G>T	ENST00000379692.4	-	2	694	c.168C>A	c.(166-168)ctC>ctA	p.L56L		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	56					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.L56L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TATCTCTAAAGAGATAACTGC	0.398																																					p.L56L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168A	4						.						66.0	63.0	64.0					4																	121966825		1823	4085	5908	122186275	SO:0001819	synonymous_variant	79625	exon2			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.168C>A	4.37:g.121966825G>T			122186275	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	CCDS3717.2																																																																																				0.398	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
TNIP3	79931	broad.mit.edu	37	4	122079859	122079859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122079859C>A	ENST00000509841.1	-	6	505	c.427G>T	c.(427-429)Gag>Tag	p.E143*	TNIP3_ENST00000057513.3_Nonsense_Mutation_p.E66*|TNIP3_ENST00000454328.1_Nonsense_Mutation_p.E66*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.E136*	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.E66*(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCATATAACTCTTTCATACTT	0.358																																					p.E66X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G196T	4						.						90.0	90.0	90.0					4																	122079859		2201	4300	6501	122299309	SO:0001587	stop_gained	79931	exon5			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.427G>T	4.37:g.122079859C>A	ENSP00000426613:p.Glu143*		122299309	NM_001128843		Nonsense_Mutation	SNP	ENST00000509841.1	37	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221231	0.79464	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	.	.	.	5.18	2.53	0.30540	.	0.622243	0.15656	N	0.251120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.8963	6.0017	0.19525	0.0:0.6698:0.1569:0.1733	.	.	.	.	X	66;66;136;143	.	ENSP00000057513:E66X	E	-	1	0	TNIP3	122299309	0.274000	0.24191	0.483000	0.27378	0.658000	0.38924	0.389000	0.20751	0.423000	0.26033	-0.772000	0.03388	GAG		0.358	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
QRFPR	84109	broad.mit.edu	37	4	122254005	122254005	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122254005A>C	ENST00000394427.2	-	4	1179	c.768T>G	c.(766-768)atT>atG	p.I256M	QRFPR_ENST00000334383.5_Intron	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	256				VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.I256M(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTTTTCCATGAATAGTTCGAA	0.363																																					p.I256M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T768G	4						.						78.0	75.0	76.0					4																	122254005		2203	4300	6503	122473455	SO:0001583	missense	84109	exon4			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.768T>G	4.37:g.122254005A>C	ENSP00000377948:p.Ile256Met		122473455	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797480	0.31777	.	.	ENSG00000186867	ENST00000394427	T	0.72725	-0.68	6.17	1.37	0.22104	GPCR, rhodopsin-like superfamily (1);	0.218067	0.50627	D	0.000110	T	0.42245	0.1194	N	0.04820	-0.15	0.80722	D	1	B	0.32128	0.357	B	0.31245	0.126	T	0.08700	-1.0709	10	0.30854	T	0.27	.	5.4129	0.16358	0.5413:0.1421:0.3166:0.0	.	256	Q96P65	QRFPR_HUMAN	M	256	ENSP00000377948:I256M	ENSP00000377948:I256M	I	-	3	3	QRFPR	122473455	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.154000	0.31688	0.213000	0.20722	0.533000	0.62120	ATT		0.363	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
QRFPR	84109	broad.mit.edu	37	4	122257982	122257982	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122257982A>G	ENST00000394427.2	-	3	952	c.541T>C	c.(541-543)Tgg>Cgg	p.W181R	QRFPR_ENST00000334383.5_Missense_Mutation_p.W181R	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.W181R(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCACGTGCCACATGGGTGAT	0.413																																					p.W181R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T541C	4						.						245.0	232.0	236.0					4																	122257982		2203	4300	6503	122477432	SO:0001583	missense	84109	exon3			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.541T>C	4.37:g.122257982A>G	ENSP00000377948:p.Trp181Arg		122477432	NM_198179		Missense_Mutation	SNP	ENST00000394427.2	37	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255667	0.59321	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.37235	1.21;1.21	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.061993	0.64402	D	0.000002	T	0.51702	0.1690	L	0.57536	1.79	0.54753	D	0.999989	D;D	0.76494	0.999;0.998	D;D	0.70487	0.959;0.969	T	0.50808	-0.8784	10	0.45353	T	0.12	.	9.7021	0.40194	0.9218:0.0:0.0782:0.0	.	181;181	Q96P65;G4XH69	QRFPR_HUMAN;.	R	181	ENSP00000377948:W181R;ENSP00000335610:W181R	ENSP00000335610:W181R	W	-	1	0	QRFPR	122477432	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.290000	0.59019	2.032000	0.59987	0.477000	0.44152	TGG		0.413	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179	
BBS7	55212	broad.mit.edu	37	4	122747030	122747030	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122747030G>T	ENST00000264499.4	-	19	2316	c.2133C>A	c.(2131-2133)ttC>ttA	p.F711L	CCNA2_ENST00000274026.5_5'Flank	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	711					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.F711L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGCATCGAAGAATGAAATCA	0.313									Bardet-Biedl syndrome																												p.F711L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2133A	4						.						113.0	113.0	113.0					4																	122747030		2203	4297	6500	122966480	SO:0001583	missense	55212	exon19	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.2133C>A	4.37:g.122747030G>T	ENSP00000264499:p.Phe711Leu		122966480	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011481	0.75046	.	.	ENSG00000138686	ENST00000264499;ENST00000507814	T;T	0.76060	-0.99;-0.99	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.83371	0.0007	10	0.33940	T	0.23	-12.4128	9.7839	0.40664	0.1888:0.0:0.8112:0.0	.	711	Q8IWZ6	BBS7_HUMAN	L	711;134	ENSP00000264499:F711L;ENSP00000423250:F134L	ENSP00000264499:F711L	F	-	3	2	BBS7	122966480	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	1.954000	0.40362	2.746000	0.94184	0.591000	0.81541	TTC		0.313	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
BBS7	55212	broad.mit.edu	37	4	122749340	122749340	+	Nonsense_Mutation	SNP	C	C	A	rs113786007		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122749340C>A	ENST00000264499.4	-	18	2158	c.1975G>T	c.(1975-1977)Gaa>Taa	p.E659*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.E659*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	659					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.E659*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTTGTATTCTTCCTGTAGG	0.363									Bardet-Biedl syndrome																												p.E659X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1975T	4						.						193.0	191.0	192.0					4																	122749340		2203	4300	6503	122968790	SO:0001587	stop_gained	55212	exon18	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1975G>T	4.37:g.122749340C>A	ENSP00000264499:p.Glu659*		122968790	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Nonsense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	41	8.547664	0.98859	.	.	ENSG00000138686	ENST00000264499;ENST00000507814;ENST00000506636	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-28.6241	19.5165	0.95167	0.0:1.0:0.0:0.0	.	.	.	.	X	659;82;659	.	ENSP00000264499:E659X	E	-	1	0	BBS7	122968790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.785000	0.95823	0.655000	0.94253	GAA		0.363	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
BBS7	55212	broad.mit.edu	37	4	122756323	122756323	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122756323C>A	ENST00000264499.4	-	14	1670	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	BBS7_ENST00000506636.1_Missense_Mutation_p.R496I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	496					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R496I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAAGTGAGTTCTTTGATGGAG	0.383									Bardet-Biedl syndrome																												p.R496I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1487T	4						.						212.0	195.0	201.0					4																	122756323		2203	4300	6503	122975773	SO:0001583	missense	55212	exon14	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1487G>T	4.37:g.122756323C>A	ENSP00000264499:p.Arg496Ile		122975773	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283080	0.80803	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.97161	-4.27;-4.23	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	M	0.75264	2.295	0.80722	D	1	D	0.54964	0.969	P	0.53518	0.728	D	0.97114	0.9806	10	0.35671	T	0.21	-20.9082	18.9668	0.92700	0.0:1.0:0.0:0.0	.	496	Q8IWZ6	BBS7_HUMAN	I	496	ENSP00000264499:R496I;ENSP00000423626:R496I	ENSP00000264499:R496I	R	-	2	0	BBS7	122975773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.000000	0.70678	2.462000	0.83206	0.650000	0.86243	AGA		0.383	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
BBS7	55212	broad.mit.edu	37	4	122770018	122770018	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122770018G>A	ENST00000264499.4	-	9	1098	c.915C>T	c.(913-915)atC>atT	p.I305I	BBS7_ENST00000506636.1_Silent_p.I305I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	305					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I305I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGGACACCACGATTTCATCAT	0.328									Bardet-Biedl syndrome																												p.I305I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	4						.						114.0	113.0	114.0					4																	122770018		2203	4300	6503	122989468	SO:0001819	synonymous_variant	55212	exon9	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.915C>T	4.37:g.122770018G>A			122989468	NM_176824	Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	CCDS3724.1																																																																																				0.328	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1		
TRPC3	7222	broad.mit.edu	37	4	122803560	122803560	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122803560G>A	ENST00000379645.3	-	11	2645	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	TRPC3_ENST00000264811.5_Missense_Mutation_p.R785W|TRPC3_ENST00000513531.1_Missense_Mutation_p.R730W	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	773					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R785W(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAAACATACCGCTTTATAAGT	0.318																																					p.R785W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2353T	4						.						162.0	151.0	155.0					4																	122803560		2202	4299	6501	123023010	SO:0001583	missense	7222	exon10			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2572C>T	4.37:g.122803560G>A	ENSP00000368966:p.Arg858Trp		123023010	NM_003305	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176266	0.78564	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.88741	-2.42;-2.42;-2.42	5.57	4.73	0.59995	.	0.000000	0.64402	D	0.000005	D	0.95661	0.8589	M	0.93197	3.39	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96542	0.9401	10	0.87932	D	0	-22.4656	13.8449	0.63461	0.0:0.0:0.7216:0.2784	.	773;730;858	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	W	785;858;730	ENSP00000264811:R785W;ENSP00000368966:R858W;ENSP00000426899:R730W	ENSP00000264811:R785W	R	-	1	2	TRPC3	123023010	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	4.067000	0.57527	1.478000	0.48253	0.585000	0.79938	CGG		0.318	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305	
KIAA1109	84162	broad.mit.edu	37	4	123118402	123118402	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123118402A>C	ENST00000264501.4	+	13	1634	c.1261A>C	c.(1261-1263)Aat>Cat	p.N421H	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.N421H|KIAA1109_ENST00000455637.1_Missense_Mutation_p.N421H			Q2LD37	K1109_HUMAN	KIAA1109	421					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N421H(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTAGAAATTAATATTCCAAT	0.229																																					p.N421H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1261C	4						.						40.0	42.0	41.0					4																	123118402		1782	4006	5788	123337852	SO:0001583	missense	84162	exon11			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1261A>C	4.37:g.123118402A>C	ENSP00000264501:p.Asn421His		123337852	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.6|26.6	4.751331|4.751331	0.89753|0.89753	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	D;D;D|.	0.94000|.	-3.33;-3.33;-3.33|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.998121|.	0.08113|.	N|.	0.995850|.	T|.	0.61788|.	0.2375|.	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999992|0.999992	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|.	0.58584|.	-0.7611|.	10|.	0.34782|.	T|.	0.22|.	.|.	15.9075|15.9075	0.79442|0.79442	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	421|.	Q2LD37|.	K1109_HUMAN|.	H|S	421|253	ENSP00000264501:N421H;ENSP00000373390:N421H;ENSP00000389925:N421H|.	ENSP00000264501:N421H|.	N|X	+|+	1|2	0|2	KIAA1109|KIAA1109	123337852|123337852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.109000|7.109000	0.77062|0.77062	2.158000|2.158000	0.67659|0.67659	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.229	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123130483	123130483	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123130483C>A	ENST00000264501.4	+	18	2295	c.1922C>A	c.(1921-1923)aCt>aAt	p.T641N	KIAA1109_ENST00000495260.1_Intron|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T641N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T641N			Q2LD37	K1109_HUMAN	KIAA1109	641					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T641N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGCAACGTTACTCAGGAAAAG	0.458																																					p.T641N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1922A	4						.						69.0	64.0	66.0					4																	123130483		1945	4141	6086	123349933	SO:0001583	missense	84162	exon16			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1922C>A	4.37:g.123130483C>A	ENSP00000264501:p.Thr641Asn		123349933	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.107860|4.107860	0.77096|0.77096	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.26067|.	2.36;2.36;1.76|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.433652|.	0.16572|.	U|.	0.208573|.	T|.	0.71467|.	0.3343|.	L|L	0.60455|0.60455	1.87|1.87	0.50467|0.50467	D|D	0.999879|0.999879	D;P|.	0.76494|.	0.999;0.759|.	D;B|.	0.69479|.	0.964;0.328|.	T|.	0.70949|.	-0.4733|.	10|.	0.51188|.	T|.	0.08|.	.|.	17.6803|17.6803	0.88241|0.88241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	641;641|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	N|X	641|473	ENSP00000264501:T641N;ENSP00000373390:T641N;ENSP00000389925:T641N|.	ENSP00000264501:T641N|.	T|Y	+|+	2|3	0|2	KIAA1109|KIAA1109	123349933|123349933	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.988000|0.988000	0.76386|0.76386	5.976000|5.976000	0.70484|0.70484	2.256000|2.256000	0.74724|0.74724	0.561000|0.561000	0.74099|0.74099	ACT|TAC		0.458	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123132184	123132184	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123132184G>T	ENST00000264501.4	+	20	2554	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M727I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M727I			Q2LD37	K1109_HUMAN	KIAA1109	727					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.M727I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGTAGAAATGGAACTTTCTC	0.378																																					p.M727I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2181T	4						.						98.0	90.0	92.0					4																	123132184		1829	4085	5914	123351634	SO:0001583	missense	84162	exon18			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2181G>T	4.37:g.123132184G>T	ENSP00000264501:p.Met727Ile		123351634	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.630345|2.630345	0.46944|0.46944	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.20200	.|2.69;2.69;2.09	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|19.927700	.|0.00597	.|U	.|0.000369	.|T	.|0.17152	.|0.0412	N|N	0.13098|0.13098	0.295|0.295	0.46927|0.46927	D|D	0.999254|0.999254	.|B;B	.|0.22683	.|0.073;0.003	.|B;B	.|0.23716	.|0.048;0.003	.|T	.|0.07654	.|-1.0761	.|10	.|0.17832	.|T	.|0.49	.|.	12.0238|12.0238	0.53358|0.53358	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	.|727;727	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	X|I	560|727	.|ENSP00000264501:M727I;ENSP00000373390:M727I;ENSP00000389925:M727I	.|ENSP00000264501:M727I	G|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123351634|123351634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.199000|4.199000	0.58426|0.58426	2.462000|2.462000	0.83206|0.83206	0.585000|0.585000	0.79938|0.79938	GGA|ATG		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123147936	123147936	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123147936G>A	ENST00000264501.4	+	24	3241	c.2868G>A	c.(2866-2868)ccG>ccA	p.P956P	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.P956P|KIAA1109_ENST00000455637.1_Silent_p.P956P			Q2LD37	K1109_HUMAN	KIAA1109	956					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P956P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGAAAGACCGAAATCAGTTA	0.368																																					p.P956P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2868A	4						.						168.0	160.0	163.0					4																	123147936		1902	4137	6039	123367386	SO:0001819	synonymous_variant	84162	exon22			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2868G>A	4.37:g.123147936G>A			123367386	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	9.489	1.100136	0.20552	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.72	-2.18	0.07037	.	.	.	.	.	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	.	2.5492	0.04744	0.275:0.4075:0.1214:0.1961	.	.	.	.	K	788	.	.	E	+	1	0	KIAA1109	123367386	0.031000	0.19500	0.970000	0.41538	0.970000	0.65996	-0.657000	0.05335	-0.509000	0.06532	-0.352000	0.07741	GAA		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123168363	123168363	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123168363A>C	ENST00000264501.4	+	35	5736	c.5363A>C	c.(5362-5364)aAt>aCt	p.N1788T	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N1788T|KIAA1109_ENST00000455637.1_Missense_Mutation_p.N1788T			Q2LD37	K1109_HUMAN	KIAA1109	1788					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N1788T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAACATCAAATTTTGATAGG	0.358																																					p.N1788T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5363C	4						.						74.0	69.0	71.0					4																	123168363		1874	4107	5981	123387813	SO:0001583	missense	84162	exon33			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5363A>C	4.37:g.123168363A>C	ENSP00000264501:p.Asn1788Thr		123387813	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.701|9.701	1.154467|1.154467	0.21371|0.21371	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22945	.|2.52;2.52;1.93	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.355912	.|0.17967	.|U	.|0.155972	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.14661|0.14661	0.345|0.345	0.24603|0.24603	N|N	0.993762|0.993762	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.20706|0.20706	-1.0267|-1.0267	5|10	.|0.02654	.|T	.|1	.|.	12.3513|12.3513	0.55151|0.55151	0.8202:0.1798:0.0:0.0|0.8202:0.1798:0.0:0.0	.|.	.|1787;1788	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	L|T	361|1788	.|ENSP00000264501:N1788T;ENSP00000373390:N1788T;ENSP00000389925:N1788T	.|ENSP00000264501:N1788T	I|N	+|+	1|2	0|0	KIAA1109|KIAA1109	123387813|123387813	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	3.174000|3.174000	0.50847|0.50847	2.207000|2.207000	0.71202|0.71202	0.477000|0.477000	0.44152|0.44152	ATT|AAT		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123170683	123170683	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123170683C>A	ENST00000264501.4	+	36	5929	c.5556C>A	c.(5554-5556)tcC>tcA	p.S1852S	KIAA1109_ENST00000388738.3_Silent_p.S1852S|KIAA1109_ENST00000455637.1_Silent_p.S1852S			Q2LD37	K1109_HUMAN	KIAA1109	1852					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S1852S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTGAGAAGTCCAAAGTTTTAT	0.358																																					p.S1852S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5556A	4						.						138.0	132.0	134.0					4																	123170683		1834	4079	5913	123390133	SO:0001819	synonymous_variant	84162	exon34			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5556C>A	4.37:g.123170683C>A			123390133	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	8.834	0.940593	0.18281	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.16	3.31	0.37934	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50825	-0.8782	4	.	.	.	.	7.4321	0.27134	0.4043:0.3724:0.2232:0.0	.	.	.	.	Q	425	.	.	P	+	2	0	KIAA1109	123390133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.979000	0.29500	2.557000	0.86248	0.455000	0.32223	CCA		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123175973	123175973	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123175973T>G	ENST00000264501.4	+	39	6461	c.6088T>G	c.(6088-6090)Tta>Gta	p.L2030V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L2030V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L2030V			Q2LD37	K1109_HUMAN	KIAA1109	2030					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L2030V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTGAACCTTTTAAGCACTGC	0.363																																					p.L2030V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6088G	4						.						47.0	42.0	43.0					4																	123175973		1827	4077	5904	123395423	SO:0001583	missense	84162	exon37			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6088T>G	4.37:g.123175973T>G	ENSP00000264501:p.Leu2030Val		123395423	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.98|17.98	3.520879|3.520879	0.64747|0.64747	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.63096	.|0.57;0.57;-0.02	5.86|5.86	2.09|2.09	0.27110|0.27110	.|.	.|0.000000	.|0.40385	.|U	.|0.001118	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.68317|0.68317	2.08|2.08	0.36470|0.36470	D|D	0.867196|0.867196	.|D;D	.|0.69078	.|0.996;0.997	.|D;D	.|0.75484	.|0.986;0.978	T|T	0.75113|0.75113	-0.3432|-0.3432	5|10	.|0.56958	.|D	.|0.05	.|.	8.4572|8.4572	0.32906|0.32906	0.0:0.4266:0.0:0.5734|0.0:0.4266:0.0:0.5734	.|.	.|2029;2030	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	L|V	602|2030	.|ENSP00000264501:L2030V;ENSP00000373390:L2030V;ENSP00000389925:L2030V	.|ENSP00000264501:L2030V	F|L	+|+	3|1	2|2	KIAA1109|KIAA1109	123395423|123395423	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.991000|0.991000	0.79684|0.79684	1.482000|1.482000	0.35486|0.35486	0.485000|0.485000	0.27652|0.27652	0.477000|0.477000	0.44152|0.44152	TTT|TTA		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123192807	123192807	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123192807C>T	ENST00000264501.4	+	47	8501	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.L2710F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.L2710F			Q2LD37	K1109_HUMAN	KIAA1109	2710					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L2710F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTATAAATTGCTTAACTTCTA	0.363																																					p.L2710F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8128T	4						.						59.0	56.0	57.0					4																	123192807		1864	4099	5963	123412257	SO:0001583	missense	84162	exon45			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8128C>T	4.37:g.123192807C>T	ENSP00000264501:p.Leu2710Phe		123412257	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184546|4.184546	0.78677|0.78677	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.44482	.|1.49;1.49;0.92	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.60856|0.60856	0.2301|0.2301	L|L	0.57536|0.57536	1.79|1.79	0.50171|0.50171	D|D	0.999858|0.999858	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	T|T	0.61931|0.61931	-0.6961|-0.6961	5|10	.|0.87932	.|D	.|0	.|.	14.1901|14.1901	0.65633|0.65633	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|2710;2709;2710	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	V|F	667|2710	.|ENSP00000264501:L2710F;ENSP00000373390:L2710F;ENSP00000389925:L2710F	.|ENSP00000264501:L2710F	A|L	+|+	2|1	0|0	KIAA1109|KIAA1109	123412257|123412257	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.993000|0.993000	0.82548|0.82548	3.070000|3.070000	0.50033|0.50033	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GCT|CTT		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123249512	123249512	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123249512C>T	ENST00000264501.4	+	66	11622	c.11249C>T	c.(11248-11250)tCa>tTa	p.S3750L	KIAA1109_ENST00000388738.3_Splice_Site_p.S3750L			Q2LD37	K1109_HUMAN	KIAA1109	3750					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S3750L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGAAACCCTCGTGAGTAACC	0.333																																					p.S3750L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11249T	4						.						64.0	61.0	62.0					4																	123249512		1829	4078	5907	123468962	SO:0001630	splice_region_variant	84162	exon64			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11249+1C>T	4.37:g.123249512C>T			123468962	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.414870|1.414870	0.25465|0.25465	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.30981	.|2.53;2.53;1.51	5.57|5.57	3.83|3.83	0.44106|0.44106	.|.	.|0.515132	.|0.18296	.|N	.|0.145562	T|T	0.18045|0.18045	0.0433|0.0433	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.05886|0.05886	-1.0858|-1.0858	5|10	.|0.12766	.|T	.|0.61	.|.	6.246|6.246	0.20818|0.20818	0.2471:0.6121:0.0:0.1407|0.2471:0.6121:0.0:0.1407	.|.	.|3749;3750	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	Y|L	161|3750;3750;454	.|ENSP00000264501:S3750L;ENSP00000373390:S3750L;ENSP00000410874:S454L	.|ENSP00000264501:S3750L	H|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123468962|123468962	0.801000|0.801000	0.28930|0.28930	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	0.484000|0.484000	0.22308|0.22308	1.358000|1.358000	0.45922|0.45922	0.467000|0.467000	0.42956|0.42956	CAC|TCA		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Missense_Mutation
IL2	3558	broad.mit.edu	37	4	123374938	123374938	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123374938G>A	ENST00000226730.4	-	3	562	c.278C>T	c.(277-279)gCt>gTt	p.A93V		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	93					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.A93V(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TTTGCTTTGAGCTAAATTTAG	0.368			T	TNFRSF17	intestinal T-cell lymphoma																																p.A93V			Dom	yes		4	4q26-q27	3558	interleukin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	4						.						145.0	142.0	143.0					4																	123374938		2203	4300	6503	123594388	SO:0001583	missense	3558	exon3			U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.278C>T	4.37:g.123374938G>A	ENSP00000226730:p.Ala93Val		123594388	NM_000586	P01585	Missense_Mutation	SNP	ENST00000226730.4	37	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243892	0.79912	.	.	ENSG00000109471	ENST00000226730	.	.	.	3.99	2.18	0.27775	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.967882	0.08457	N	0.942974	T	0.50497	0.1619	L	0.53249	1.67	0.09310	N	1	D	0.67145	0.996	P	0.54815	0.761	T	0.35375	-0.9791	9	0.54805	T	0.06	1.475	8.8908	0.35432	0.0:0.0:0.5941:0.4059	.	93	P60568	IL2_HUMAN	V	93	.	ENSP00000226730:A93V	A	-	2	0	IL2	123594388	0.621000	0.27077	0.012000	0.15200	0.957000	0.61999	0.202000	0.17295	0.597000	0.29811	0.460000	0.39030	GCT		0.368	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2		
BBS12	166379	broad.mit.edu	37	4	123663572	123663572	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123663572T>C	ENST00000314218.3	+	2	718	c.525T>C	c.(523-525)ggT>ggC	p.G175G	BBS12_ENST00000542236.1_Silent_p.G175G	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	175					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.G175G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATTGCATGGTCTCAAAGATG	0.373									Bardet-Biedl syndrome																												p.G175G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T525C	4						.						93.0	85.0	88.0					4																	123663572		2203	4300	6503	123883022	SO:0001819	synonymous_variant	166379	exon3	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.525T>C	4.37:g.123663572T>C			123883022	NM_001178007	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	CCDS3728.1																																																																																				0.373	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618	
SPATA5	166378	broad.mit.edu	37	4	123978405	123978405	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:123978405C>A	ENST00000274008.4	+	13	2244	c.2175C>A	c.(2173-2175)ttC>ttA	p.F725L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	725					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.F725L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCATTATTTTCTTTGATGAAC	0.373																																					p.F725L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2175A	4						.						102.0	102.0	102.0					4																	123978405		2203	4300	6503	124197855	SO:0001583	missense	166378	exon13			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2175C>A	4.37:g.123978405C>A	ENSP00000274008:p.Phe725Leu		124197855	NM_145207	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294060	0.81025	.	.	ENSG00000145375	ENST00000274008	D	0.94092	-3.35	4.87	4.01	0.46588	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	M	0.63169	1.94	0.43160	D	0.994945	D	0.89917	1.0	D	0.97110	1.0	D	0.95812	0.8842	10	0.87932	D	0	-14.3803	12.651	0.56761	0.0:0.9189:0.0:0.0811	.	725	Q8NB90	SPAT5_HUMAN	L	725	ENSP00000274008:F725L	ENSP00000274008:F725L	F	+	3	2	SPATA5	124197855	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.174000	0.50847	1.386000	0.46466	0.655000	0.94253	TTC		0.373	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	
SPRY1	10252	broad.mit.edu	37	4	124322919	124322919	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:124322919C>T	ENST00000394339.2	+	2	513	c.173C>T	c.(172-174)tCg>tTg	p.S58L	SPRY1_ENST00000339241.1_Missense_Mutation_p.S58L	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	58					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.S58L(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GAAGGGCCTTCGGTGGTGAAA	0.433																																					p.S58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173T	4						.						124.0	125.0	125.0					4																	124322919		2203	4300	6503	124542369	SO:0001583	missense	10252	exon2			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.173C>T	4.37:g.124322919C>T	ENSP00000377871:p.Ser58Leu		124542369	NM_005841	D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829839	0.91036	.	.	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.55413	0.52;1.46;0.52	4.78	4.78	0.61160	.	0.166757	0.40908	D	0.000983	T	0.52693	0.1750	M	0.65975	2.015	0.58432	D	0.999998	D	0.57899	0.981	B	0.44315	0.446	T	0.53802	-0.8387	10	0.10636	T	0.68	-13.4393	17.6504	0.88162	0.0:1.0:0.0:0.0	.	58	O43609	SPY1_HUMAN	L	58	ENSP00000343785:S58L;ENSP00000421036:S58L;ENSP00000377871:S58L	ENSP00000343785:S58L	S	+	2	0	SPRY1	124542369	0.998000	0.40836	0.951000	0.38953	0.986000	0.74619	5.319000	0.65835	2.481000	0.83766	0.561000	0.74099	TCG		0.433	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1		
SPRY1	10252	broad.mit.edu	37	4	124323508	124323508	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:124323508C>T	ENST00000394339.2	+	2	1102	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SPRY1_ENST00000339241.1_Silent_p.C254C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	254	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.C254C(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CACACTGCTGCTCTAGATACC	0.463																																					p.C254C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762T	4						.						264.0	224.0	238.0					4																	124323508		2203	4300	6503	124542958	SO:0001819	synonymous_variant	10252	exon2			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.762C>T	4.37:g.124323508C>T			124542958	NM_005841	D3DNX6|Q6PNE0	Silent	SNP	ENST00000394339.2	37	CCDS3731.1																																																																																				0.463	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1		
ANKRD50	57182	broad.mit.edu	37	4	125590153	125590153	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:125590153T>C	ENST00000504087.1	-	4	5316	c.4279A>G	c.(4279-4281)Aca>Gca	p.T1427A	ANKRD50_ENST00000515641.1_Missense_Mutation_p.T1248A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1427								p.T1427A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TATAATGGTGTTTCCTTTTTA	0.373																																					p.T1248A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3742G	4						.						67.0	70.0	69.0					4																	125590153		2203	4300	6503	125809603	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4279A>G	4.37:g.125590153T>C	ENSP00000425658:p.Thr1427Ala		125809603	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263730	0.80358	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.73152	-0.72;-0.61	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	N	0.24115	0.695	0.50313	D	0.999866	D	0.58970	0.984	D	0.65443	0.935	T	0.78262	-0.2272	10	0.87932	D	0	.	15.5138	0.75806	0.0:0.0:0.0:1.0	.	1427	Q9ULJ7	ANR50_HUMAN	A	1427;1248	ENSP00000425658:T1427A;ENSP00000425355:T1248A	ENSP00000425658:T1427A	T	-	1	0	ANKRD50	125809603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.340000	0.79292	2.250000	0.74265	0.454000	0.30748	ACA		0.373	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126238811	126238811	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126238811G>A	ENST00000394329.3	+	1	1258	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	415	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P415P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAAGTGCCGAACCTGAGCC	0.592											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P415P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1245A	4						.						34.0	37.0	36.0					4																	126238811		2024	4195	6219	126458261	SO:0001819	synonymous_variant	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1245G>A	4.37:g.126238811G>A		1548	126458261	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.592	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126239587	126239587	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126239587G>A	ENST00000394329.3	+	1	2034	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	674	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R674H(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAATGGCTCGCATAAATGTG	0.483																																					p.R674H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2021A	4						.						89.0	89.0	89.0					4																	126239587		1907	4122	6029	126459037	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2021G>A	4.37:g.126239587G>A	ENSP00000377862:p.Arg674His		126459037	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	4.288	0.052591	0.08291	.	.	ENSG00000196159	ENST00000394329	T	0.01767	4.65	4.76	1.05	0.20165	Cadherin (4);Cadherin-like (1);	0.291323	0.18322	U	0.144774	T	0.01523	0.0049	L	0.33245	0.995	0.09310	N	1	B	0.22746	0.074	B	0.20184	0.028	T	0.46062	-0.9218	10	0.44086	T	0.13	.	4.319	0.11007	0.396:0.0:0.454:0.15	.	674	Q6V0I7	FAT4_HUMAN	H	674	ENSP00000377862:R674H	ENSP00000377862:R674H	R	+	2	0	FAT4	126459037	0.666000	0.27475	0.000000	0.03702	0.119000	0.20118	1.459000	0.35234	-0.018000	0.14079	0.655000	0.94253	CGC		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126240894	126240894	+	Missense_Mutation	SNP	G	G	A	rs377275274		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126240894G>A	ENST00000394329.3	+	1	3341	c.3328G>A	c.(3328-3330)Gaa>Aaa	p.E1110K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1110	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1110K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTACTTCGAAGAAGAGCA	0.388																																					p.E1110K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3328A	4						.	G	LYS/GLU	0,3694		0,0,1847	162.0	155.0	157.0		3328	4.4	1.0	4		157	3,8155		0,3,4076	no	missense	FAT4	NM_024582.4	56	0,3,5923	AA,AG,GG		0.0368,0.0,0.0253	benign	1110/4982	126240894	3,11849	1847	4079	5926	126460344	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3328G>A	4.37:g.126240894G>A	ENSP00000377862:p.Glu1110Lys		126460344	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058283	0.55325	0.0	3.68E-4	ENSG00000196159	ENST00000394329	T	0.52057	0.68	4.36	4.36	0.52297	Cadherin (3);Cadherin-like (1);	0.000000	0.35291	U	0.003311	T	0.44787	0.1310	N	0.12443	0.215	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.24225	-1.0166	10	0.06891	T	0.86	.	17.0972	0.86638	0.0:0.0:1.0:0.0	.	1110	Q6V0I7	FAT4_HUMAN	K	1110	ENSP00000377862:E1110K	ENSP00000377862:E1110K	E	+	1	0	FAT4	126460344	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.227000	0.65305	2.247000	0.74100	0.462000	0.41574	GAA		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126336758	126336758	+	Missense_Mutation	SNP	G	G	A	rs149686118		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126336758G>A	ENST00000394329.3	+	5	6653	c.6640G>A	c.(6640-6642)Gct>Act	p.A2214T	FAT4_ENST00000335110.5_Missense_Mutation_p.A512T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2214	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2214T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCACTGTCGCTAAACCTTT	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17985	0.0		0.0	False		,,,				2504	0.0				p.A2214T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6640A	4						.	G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	133.0	127.0	129.0		6640	4.6	1.0	4	dbSNP_134	129	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2214/4982	126336758	2,13004	2203	4300	6503	126556208	SO:0001583	missense	79633	exon5			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6640G>A	4.37:g.126336758G>A	ENSP00000377862:p.Ala2214Thr		126556208	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705870	0.68615	4.54E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.46	4.61	0.57282	Cadherin (4);Cadherin-like (1);	0.000000	0.34133	U	0.004240	T	0.04003	0.0112	L	0.33293	1	0.44834	D	0.997846	B;D	0.60575	0.056;0.988	B;P	0.59221	0.016;0.854	T	0.64398	-0.6417	10	0.15952	T	0.53	.	13.772	0.63032	0.0734:0.0:0.9266:0.0	.	512;2214	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2214;512	ENSP00000377862:A2214T;ENSP00000335169:A512T	ENSP00000335169:A512T	A	+	1	0	FAT4	126556208	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	7.868000	0.87116	1.303000	0.44873	0.557000	0.71058	GCT		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126355580	126355580	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126355580G>T	ENST00000394329.3	+	7	7212	c.7199G>T	c.(7198-7200)aGg>aTg	p.R2400M	FAT4_ENST00000335110.5_Splice_Site_p.R698M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2400	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2400M(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGTTATAAGGTCAGTACAT	0.313																																					p.R2400M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7199T	4						.						147.0	136.0	139.0					4																	126355580		2203	4300	6503	126575030	SO:0001630	splice_region_variant	79633	exon7			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7199+1G>T	4.37:g.126355580G>T			126575030	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569540	0.65765	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.53857	0.6;0.6	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.188006	0.24504	U	0.037945	T	0.54854	0.1884	N	0.25957	0.775	0.80722	D	1	P;P	0.49783	0.824;0.928	B;P	0.53360	0.416;0.724	T	0.56631	-0.7947	10	0.49607	T	0.09	.	18.5243	0.90965	0.0:0.0:1.0:0.0	.	698;2400	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	M	2400;698	ENSP00000377862:R2400M;ENSP00000335169:R698M	ENSP00000335169:R698M	R	+	2	0	FAT4	126575030	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	8.434000	0.90294	2.596000	0.87737	0.655000	0.94253	AGG		0.313	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	Missense_Mutation
FAT4	79633	broad.mit.edu	37	4	126367514	126367514	+	Silent	SNP	C	C	T	rs147010455	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126367514C>T	ENST00000394329.3	+	8	7273	c.7260C>T	c.(7258-7260)agC>agT	p.S2420S	FAT4_ENST00000335110.5_Silent_p.S718S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2420	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2420S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCATCACCAGCGCATTGTTAG	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		16734	0.002		0.0	False		,,,				2504	0.0				p.S2420S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7260T	4						.						121.0	119.0	120.0					4																	126367514		2203	4300	6503	126586964	SO:0001819	synonymous_variant	79633	exon8			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7260C>T	4.37:g.126367514C>T			126586964	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126369795	126369795	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126369795G>T	ENST00000394329.3	+	9	7637	c.7624G>T	c.(7624-7626)Gat>Tat	p.D2542Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D840Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2542	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2542Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCATGTAAAAGATGGTGGCTC	0.428																																					p.D2542Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7624T	4						.						82.0	81.0	81.0					4																	126369795		2203	4299	6502	126589245	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7624G>T	4.37:g.126369795G>T	ENSP00000377862:p.Asp2542Tyr		126589245	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519181	0.85495	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.80909	-1.43;-1.43	5.72	5.72	0.89469	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003325	D	0.94212	0.8142	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95822	0.8850	10	0.87932	D	0	.	19.8937	0.96942	0.0:0.0:1.0:0.0	.	840;2542;2542	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Y	2542;840	ENSP00000377862:D2542Y;ENSP00000335169:D840Y	ENSP00000335169:D840Y	D	+	1	0	FAT4	126589245	1.000000	0.71417	0.991000	0.47740	0.830000	0.47004	9.666000	0.98612	2.716000	0.92895	0.650000	0.86243	GAT		0.428	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126371531	126371531	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126371531G>T	ENST00000394329.3	+	9	9373	c.9360G>T	c.(9358-9360)atG>atT	p.M3120I	FAT4_ENST00000335110.5_Missense_Mutation_p.M1418I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3120	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M3120I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGCAGCGATGAATGGCTTGA	0.408																																					p.M3120I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9360T	4						.						72.0	69.0	70.0					4																	126371531		2203	4300	6503	126590981	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9360G>T	4.37:g.126371531G>T	ENSP00000377862:p.Met3120Ile		126590981	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815703	0.32145	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.51325	0.71;0.71	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.41396	U	0.000885	T	0.49150	0.1540	N	0.04508	-0.205	0.80722	D	1	P;D;D	0.61080	0.655;0.989;0.986	B;D;D	0.72338	0.194;0.977;0.974	T	0.58999	-0.7536	10	0.38643	T	0.18	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1418;3120;3120	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	I	3120;1418	ENSP00000377862:M3120I;ENSP00000335169:M1418I	ENSP00000335169:M1418I	M	+	3	0	FAT4	126590981	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	7.766000	0.85320	2.652000	0.90054	0.655000	0.94253	ATG		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126389785	126389785	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126389785A>C	ENST00000394329.3	+	11	12031	c.12018A>C	c.(12016-12018)aaA>aaC	p.K4006N	FAT4_ENST00000335110.5_Missense_Mutation_p.K2269N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4006	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K3971N(1)|p.K4006N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCACGATTAAAAGTCATGCCT	0.393																																					p.K4006N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A12018C	4						.						77.0	76.0	77.0					4																	126389785		2203	4300	6503	126609235	SO:0001583	missense	79633	exon11			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12018A>C	4.37:g.126389785A>C	ENSP00000377862:p.Lys4006Asn		126609235	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714373	0.68730	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78595	-1.19;-1.19	5.13	3.96	0.45880	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.36482	U	0.002566	T	0.81866	0.4913	L	0.46819	1.47	0.48341	D	0.999636	D;D;P	0.76494	0.98;0.999;0.884	P;D;P	0.85130	0.814;0.997;0.586	T	0.80804	-0.1219	10	0.44086	T	0.13	.	9.3464	0.38111	0.8563:0.0:0.1437:0.0	.	2269;4006;4006	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4006;2269	ENSP00000377862:K4006N;ENSP00000335169:K2269N	ENSP00000335169:K2269N	K	+	3	2	FAT4	126609235	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.182000	0.58310	1.943000	0.56356	0.473000	0.43528	AAA		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126408530	126408530	+	Missense_Mutation	SNP	G	G	A	rs149301924	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:126408530G>A	ENST00000394329.3	+	16	12860	c.12847G>A	c.(12847-12849)Gat>Aat	p.D4283N	FAT4_ENST00000335110.5_Missense_Mutation_p.D2524N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4283	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D4226N(1)|p.D4283N(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTTACATCCGATGCAGGAAT	0.323																																					p.D4283N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12847A	4						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	56.0	59.0	58.0		12847	5.3	1.0	4	dbSNP_134	58	2,8596	2.2+/-6.3	0,2,4297	no	missense	FAT4	NM_024582.4	23	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	4283/4982	126408530	3,13001	2203	4299	6502	126627980	SO:0001583	missense	79633	exon16			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12847G>A	4.37:g.126408530G>A	ENSP00000377862:p.Asp4283Asn		126627980	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882563	0.72294	2.27E-4	2.33E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.79141	-1.24;-1.24	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.35378	U	0.003259	T	0.79656	0.4483	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.73739	-0.3888	10	0.10636	T	0.68	.	17.979	0.89134	0.0:0.0:1.0:0.0	.	2524;4283;4283	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4283;2524	ENSP00000377862:D4283N;ENSP00000335169:D2524N	ENSP00000335169:D2524N	D	+	1	0	FAT4	126627980	1.000000	0.71417	0.994000	0.49952	0.647000	0.38526	8.746000	0.91604	2.482000	0.83794	0.650000	0.86243	GAT		0.323	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
INTU	27152	broad.mit.edu	37	4	128635096	128635096	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128635096G>T	ENST00000335251.6	+	15	2668	c.2565G>T	c.(2563-2565)aaG>aaT	p.K855N		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	855					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.K855N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TACAGAAAAAGAAAGGACTAA	0.338																																					p.K855N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2565T	4						.						106.0	111.0	109.0					4																	128635096		2203	4300	6503	128854546	SO:0001583	missense	27152	exon15			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2565G>T	4.37:g.128635096G>T	ENSP00000334003:p.Lys855Asn		128854546	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296306	0.23650	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.4	3.55	0.40652	.	0.420075	0.24204	N	0.040596	T	0.48429	0.1499	L	0.43152	1.355	0.80722	D	1	P	0.49783	0.928	P	0.50659	0.647	T	0.45308	-0.9270	9	0.46703	T	0.11	-12.7088	4.4508	0.11619	0.0847:0.1528:0.6051:0.1574	.	855	Q9ULD6	PDZD6_HUMAN	N	855	.	ENSP00000334003:K855N	K	+	3	2	INTU	128854546	1.000000	0.71417	0.994000	0.49952	0.144000	0.21451	1.570000	0.36439	1.050000	0.40346	0.650000	0.86243	AAG		0.338	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
SLC25A31	83447	broad.mit.edu	37	4	128651816	128651816	+	Missense_Mutation	SNP	C	C	T	rs374027476		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128651816C>T	ENST00000281154.4	+	1	284	c.116C>T	c.(115-117)gCg>gTg	p.A39V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	39					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.A39V(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ACAGCGGTGGCGCCCATCGAG	0.642																																					p.A39V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C116T	4						.	C	VAL/ALA	0,4406		0,0,2203	45.0	44.0	44.0		116	5.0	1.0	4		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC25A31	NM_031291.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	39/316	128651816	1,13005	2203	4300	6503	128871266	SO:0001583	missense	83447	exon1			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.116C>T	4.37:g.128651816C>T	ENSP00000281154:p.Ala39Val		128871266	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680273	0.88542	0.0	1.16E-4	ENSG00000151475	ENST00000281154	T	0.79141	-1.24	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.000000	0.47852	D	0.000207	D	0.86772	0.6013	M	0.91510	3.215	0.51012	D	0.999905	D	0.69078	0.997	P	0.52267	0.694	D	0.90061	0.4156	10	0.87932	D	0	-12.3233	15.2429	0.73485	0.0:1.0:0.0:0.0	.	39	Q9H0C2	ADT4_HUMAN	V	39	ENSP00000281154:A39V	ENSP00000281154:A39V	A	+	2	0	SLC25A31	128871266	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	6.071000	0.71229	2.575000	0.86900	0.655000	0.94253	GCG		0.642	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
SLC25A31	83447	broad.mit.edu	37	4	128689940	128689940	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128689940C>A	ENST00000281154.4	+	5	835	c.667C>A	c.(667-669)Ctt>Att	p.L223I		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	223					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L223I(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AACTCCATTTCTTGTCTCCTT	0.323																																					p.L223I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667A	4						.						111.0	102.0	105.0					4																	128689940		2203	4298	6501	128909390	SO:0001583	missense	83447	exon5			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.667C>A	4.37:g.128689940C>A	ENSP00000281154:p.Leu223Ile		128909390	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.421703	0.01126	.	.	ENSG00000151475	ENST00000281154	T	0.80480	-1.38	4.59	2.82	0.32997	Mitochondrial carrier domain (2);	0.159738	0.29624	N	0.011634	T	0.71492	0.3346	L	0.52011	1.625	0.30183	N	0.800204	B	0.11235	0.004	B	0.12837	0.008	T	0.61978	-0.6951	10	0.27082	T	0.32	-16.0052	7.7938	0.29135	0.4472:0.4038:0.1489:0.0	.	223	Q9H0C2	ADT4_HUMAN	I	223	ENSP00000281154:L223I	ENSP00000281154:L223I	L	+	1	0	SLC25A31	128909390	0.214000	0.23563	1.000000	0.80357	0.001000	0.01503	-0.164000	0.09983	0.538000	0.28769	-0.518000	0.04402	CTT		0.323	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
HSPA4L	22824	broad.mit.edu	37	4	128703746	128703746	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128703746A>G	ENST00000296464.4	+	1	452	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	HSPA4L_ENST00000505726.1_5'Flank|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Y14C|HSPA4L_ENST00000439123.2_Missense_Mutation_p.Y45C	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	14					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Y14C(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTCAACTGCTACATTGCTGTC	0.587											OREG0016319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y14C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A41G	4						.						170.0	130.0	144.0					4																	128703746		2203	4300	6503	128923196	SO:0001583	missense	22824	exon1			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.41A>G	4.37:g.128703746A>G	ENSP00000296464:p.Tyr14Cys	1566	128923196	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886872	0.33348	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549	T;T;T;T	0.01287	5.6;5.6;5.6;5.05	3.48	2.26	0.28386	.	0.078757	0.53938	D	0.000059	T	0.01254	0.0041	N	0.02865	-0.47	0.58432	D	0.999997	D;D	0.56287	0.975;0.975	P;P	0.53988	0.739;0.739	T	0.76157	-0.3062	10	0.27082	T	0.32	.	9.163	0.37035	0.8369:0.0:0.0:0.1631	.	14;14	A2ICT2;O95757	.;HS74L_HUMAN	C	14;45;14;14	ENSP00000422482:Y14C;ENSP00000393926:Y45C;ENSP00000296464:Y14C;ENSP00000427305:Y14C	ENSP00000296464:Y14C	Y	+	2	0	HSPA4L	128923196	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	7.957000	0.87870	0.507000	0.28148	0.460000	0.39030	TAC		0.587	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
HSPA4L	22824	broad.mit.edu	37	4	128719825	128719825	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128719825A>G	ENST00000296464.4	+	4	801	c.390A>G	c.(388-390)gaA>gaG	p.E130E	HSPA4L_ENST00000505726.1_Silent_p.E104E|HSPA4L_ENST00000508776.1_Silent_p.E130E|HSPA4L_ENST00000439123.2_Silent_p.E161E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	130					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E130E(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACTTCAGAAAATGCTTTGA	0.363																																					p.E130E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A390G	4						.						135.0	135.0	135.0					4																	128719825		2203	4300	6503	128939275	SO:0001819	synonymous_variant	22824	exon4			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.390A>G	4.37:g.128719825A>G			128939275	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	CCDS3734.1																																																																																				0.363	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
PLK4	10733	broad.mit.edu	37	4	128803048	128803048	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128803048C>A	ENST00000270861.5	+	2	367	c.93C>A	c.(91-93)tcC>tcA	p.S31S	PLK4_ENST00000513090.1_Silent_p.S31S|PLK4_ENST00000507249.1_Silent_p.S31S|PLK4_ENST00000514379.1_5'UTR|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Silent_p.S31S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	31	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S31S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGCTGAGTCCATTCACACTG	0.353																																					p.S31S	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C93A	4						.						111.0	110.0	110.0					4																	128803048		2203	4300	6503	129022498	SO:0001819	synonymous_variant	10733	exon2			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.93C>A	4.37:g.128803048C>A			129022498	NM_001190799	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																				0.353	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
PLK4	10733	broad.mit.edu	37	4	128813540	128813540	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128813540C>A	ENST00000270861.5	+	10	2333	c.2059C>A	c.(2059-2061)Caa>Aaa	p.Q687K	PLK4_ENST00000513090.1_Missense_Mutation_p.Q655K|PLK4_ENST00000507249.1_Missense_Mutation_p.Q626K|PLK4_ENST00000514379.1_Missense_Mutation_p.Q646K|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Missense_Mutation_p.Q609K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	687					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q687K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGAAAATATCAATATGCTTC	0.308																																					p.Q646K	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1936A	4						.						78.0	76.0	77.0					4																	128813540		2202	4298	6500	129032990	SO:0001583	missense	10733	exon10			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2059C>A	4.37:g.128813540C>A	ENSP00000270861:p.Gln687Lys		129032990	NM_001190801	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.61|18.61	3.660548|3.660548	0.67586|0.67586	.|.	.|.	ENSG00000142731|ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379|ENST00000508113	T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35|.	5.41|5.41	4.51|4.51	0.55191|0.55191	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69780|.	0.3149|.	L|L	0.58101|0.58101	1.795|1.795	0.53688|0.53688	D|D	0.999971|0.999971	D;D|.	0.71674|.	0.998;0.997|.	D;P|.	0.66979|.	0.948;0.888|.	T|.	0.68168|.	-0.5480|.	10|.	0.32370|.	T|.	0.25|.	-7.1537|-7.1537	15.5857|15.5857	0.76479|0.76479	0.0:0.862:0.138:0.0|0.0:0.862:0.138:0.0	.|.	655;687|.	O00444-2;O00444|.	.;PLK4_HUMAN|.	K|X	687;609;655;626;646|16	ENSP00000270861:Q687K;ENSP00000421774:Q609K;ENSP00000427554:Q655K;ENSP00000423412:Q626K;ENSP00000423582:Q646K|.	ENSP00000270861:Q687K|.	Q|S	+|+	1|2	0|0	PLK4|PLK4	129032990|129032990	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.667000|0.667000	0.39255|0.39255	4.526000|4.526000	0.60566|0.60566	2.532000|2.532000	0.85374|0.85374	0.305000|0.305000	0.20034|0.20034	CAA|TCA		0.308	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
PLK4	10733	broad.mit.edu	37	4	128816161	128816161	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128816161C>A	ENST00000270861.5	+	14	2890	c.2616C>A	c.(2614-2616)atC>atA	p.I872I	PLK4_ENST00000513090.1_Silent_p.I840I|PLK4_ENST00000507249.1_Silent_p.I811I|PLK4_ENST00000514379.1_Silent_p.I831I|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Silent_p.I794I	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	872					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I872I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAACAGACATCTCTTCTAATA	0.348																																					p.I831I	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2493A	4						.						100.0	99.0	100.0					4																	128816161		2202	4300	6502	129035611	SO:0001819	synonymous_variant	10733	exon14			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2616C>A	4.37:g.128816161C>A			129035611	NM_001190801	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	CCDS3735.1																																																																																				0.348	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
C4orf29	80167	broad.mit.edu	37	4	128951771	128951771	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128951771C>T	ENST00000444616.1	+	11	1432	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	C4orf29_ENST00000398965.1_Silent_p.I395I|C4orf29_ENST00000388795.5_Silent_p.I347I			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	395						extracellular region (GO:0005576)		p.I395I(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GTTGTGAAATCCGATACTTAG	0.393																																					p.I395I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1185T	4						.						91.0	90.0	90.0					4																	128951771		1837	4088	5925	129171221	SO:0001819	synonymous_variant	80167	exon11			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.1185C>T	4.37:g.128951771C>T			129171221	NM_001039717	A1A4W8|A1A4W9|Q9H7A7	Silent	SNP	ENST00000444616.1	37																																																																																					0.393	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717	
LARP1B	55132	broad.mit.edu	37	4	128999036	128999036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:128999036G>T	ENST00000326639.6	+	4	347	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	LARP1B_ENST00000427266.1_Nonsense_Mutation_p.E46*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.E46*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.E46*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.E46*|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.E46*|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Nonsense_Mutation_p.E46*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	46						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E46*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGACAGCAAAGAAAACCGGGA	0.393																																					p.E46X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G136T	4						.						97.0	98.0	98.0					4																	128999036		2203	4300	6503	129218486	SO:0001587	stop_gained	55132	exon4				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.136G>T	4.37:g.128999036G>T	ENSP00000321997:p.Glu46*		129218486	NM_178043	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Nonsense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.097370|5.097370	0.94197|0.94197	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	.|.	.|.	.|.	3.95|3.95	3.95|3.95	0.45737|0.45737	.|.	0.218756|.	0.40728|.	N|.	0.001023|.	.|T	.|0.71108	.|0.3301	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71629	.|-0.4535	.|4	0.66056|.	D|.	0.02|.	.|.	16.1373|16.1373	0.81494|0.81494	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	46|14	.|.	ENSP00000264584:E46X|.	E|R	+|+	1|2	0|0	LARP1B|LARP1B	129218486|129218486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.436000|0.436000	0.31835|0.31835	4.985000|4.985000	0.63845|0.63845	2.206000|2.206000	0.71126|0.71126	0.471000|0.471000	0.43371|0.43371	GAA|AGA		0.393	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
LARP1B	55132	broad.mit.edu	37	4	129028332	129028332	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:129028332G>T	ENST00000326639.6	+	9	1063	c.852G>T	c.(850-852)gaG>gaT	p.E284D	LARP1B_ENST00000427266.1_Missense_Mutation_p.E284D|LARP1B_ENST00000512292.1_Missense_Mutation_p.E284D|LARP1B_ENST00000264584.5_Missense_Mutation_p.E237D|LARP1B_ENST00000394288.3_Missense_Mutation_p.E284D|LARP1B_ENST00000441387.1_Missense_Mutation_p.E284D|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.E284D	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	284	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E284D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTGGATGAGAAAATGAGAA	0.398																																					p.E284D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	4						.						71.0	73.0	72.0					4																	129028332		2203	4300	6503	129247782	SO:0001583	missense	55132	exon9				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.852G>T	4.37:g.129028332G>T	ENSP00000321997:p.Glu284Asp		129247782	NM_178043	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.68|12.68	2.010025|2.010025	0.35415|0.35415	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.36878|.	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23|.	5.38|5.38	2.79|2.79	0.32731|0.32731	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (2);|.	0.346395|0.346395	0.30800|0.30800	N|N	0.008848|0.008848	T|.	0.40322|.	0.1112|.	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.18610|.	0.001;0.002;0.004;0.029|.	B;B;B;B|.	0.14023|.	0.003;0.01;0.01;0.01|.	T|.	0.20840|.	-1.0263|.	10|.	0.07644|0.49607	T|T	0.81|0.09	.|.	6.7185|6.7185	0.23316|0.23316	0.1892:0.0:0.685:0.1258|0.1892:0.0:0.685:0.1258	.|.	284;284;284;284|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	LAR1B_HUMAN;.;.;.|.	D|X	284;284;237;284;284;237;284;284|253	ENSP00000321997:E284D;ENSP00000422850:E284D;ENSP00000427281:E237D;ENSP00000377829:E284D;ENSP00000390395:E284D;ENSP00000264584:E237D;ENSP00000396521:E284D;ENSP00000403586:E284D|.	ENSP00000264584:E237D|ENSP00000424383:E253X	E|E	+|+	3|1	2|0	LARP1B|LARP1B	129247782|129247782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.425000|2.425000	0.44723|0.44723	0.423000|0.423000	0.26033|0.26033	-0.794000|-0.794000	0.03295|0.03295	GAG|GAA		0.398	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
LARP1B	55132	broad.mit.edu	37	4	129121708	129121708	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:129121708G>T	ENST00000326639.6	+	17	2408	c.2197G>T	c.(2197-2199)Gaa>Taa	p.E733*	LARP1B_ENST00000264584.5_Nonsense_Mutation_p.E674*|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.E733*|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.E152*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	733						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E733*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TCAGTCCCAAGAAATGAATAC	0.318																																					p.E733X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2197T	4						.						39.0	37.0	38.0					4																	129121708		2202	4294	6496	129341158	SO:0001587	stop_gained	55132	exon17				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2197G>T	4.37:g.129121708G>T	ENSP00000321997:p.Glu733*		129341158	NM_018078	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Nonsense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	40	8.012150	0.98610	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9187	0.88960	0.0:0.0:1.0:0.0	.	.	.	.	X	733;674;733;152	.	ENSP00000264584:E674X	E	+	1	0	LARP1B	129341158	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.384000	0.79751	2.467000	0.83353	0.561000	0.74099	GAA		0.318	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
RAB28	9364	broad.mit.edu	37	4	13462408	13462408	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13462408C>A	ENST00000330852.5	-	4	520	c.306G>T	c.(304-306)gaG>gaT	p.E102D	RAB28_ENST00000338176.4_Missense_Mutation_p.E102D|RAB28_ENST00000288723.4_Missense_Mutation_p.E102D	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	102					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E102D(2)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CTTCTAAATTCTCAAAGCTTT	0.348																																					p.E102D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G306T	4						.						89.0	89.0	89.0					4																	13462408		2203	4300	6503	13071506	SO:0001583	missense	9364	exon4			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.306G>T	4.37:g.13462408C>A	ENSP00000328551:p.Glu102Asp		13071506	NM_001017979	G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	CCDS33961.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.22|15.22|15.22	2.768733|2.768733|2.768733	0.49680|0.49680|0.49680	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000511649|ENST00000510528	T;T;T|.|.	0.78003|.|.	-1.14;-1.14;-1.14|.|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	Small GTP-binding protein domain (1);|.|.	0.000000|0.000000|.	0.85682|0.85682|.	D|D|.	0.000000|0.000000|.	T|.|T	0.47040|.|0.47040	0.1424|.|0.1424	L|L|L	0.35249|0.35249|0.35249	1.045|1.045|1.045	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	B;B|.|.	0.15141|.|.	0.001;0.012|.|.	B;B|.|.	0.15052|.|.	0.004;0.012|.|.	T|.|T	0.38243|.|0.38243	-0.9670|.|-0.9670	10|.|5	0.33141|0.62326|.	T|D|.	0.24|0.03|.	.|.|.	7.9031|7.9031|7.9031	0.29746|0.29746|0.29746	0.0:0.8142:0.0:0.1858|0.0:0.8142:0.0:0.1858|0.0:0.8142:0.0:0.1858	.|.|.	102;102|.|.	P51157;P51157-2|.|.	RAB28_HUMAN;.|.|.	D|X|I	102|25|17	ENSP00000328551:E102D;ENSP00000288723:E102D;ENSP00000340079:E102D|.|.	ENSP00000288723:E102D|ENSP00000424899:E25X|.	E|E|R	-|-|-	3|1|2	2|0|0	RAB28|RAB28|RAB28	13071506|13071506|13071506	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.085000|1.085000|1.085000	0.30840|0.30840|0.30840	2.861000|2.861000|2.861000	0.98227|0.98227|0.98227	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GAA|AGA		0.348	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979	
BOD1L1	259282	broad.mit.edu	37	4	13601206	13601206	+	Missense_Mutation	SNP	C	C	T	rs370739251		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13601206C>T	ENST00000040738.5	-	10	7453	c.7318G>A	c.(7318-7320)Gaa>Aaa	p.E2440K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2440						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E2440K(1)									GGTCCTATTTCGGGGCACTCC	0.493											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E2440K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7318A	4						.	C	LYS/GLU	0,4406		0,0,2203	168.0	153.0	158.0		7318	-2.4	0.0	4		158	1,8599	1.2+/-3.3	0,1,4299	no	missense	BOD1L	NM_148894.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2440/3052	13601206	1,13005	2203	4300	6503	13210304	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7318G>A	4.37:g.13601206C>T	ENSP00000040738:p.Glu2440Lys	688	13210304	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034531	0.19590	0.0	1.16E-4	ENSG00000038219	ENST00000040738	T	0.08370	3.1	3.75	-2.41	0.06562	.	4.012110	0.00541	N	0.000235	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.23591	0.088	B	0.12156	0.007	T	0.28776	-1.0033	10	0.09338	T	0.73	.	1.3378	0.02148	0.273:0.3108:0.2703:0.146	.	2440	Q8NFC6	BOD1L_HUMAN	K	2440	ENSP00000040738:E2440K	ENSP00000040738:E2440K	E	-	1	0	BOD1L	13210304	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.155000	0.10115	-0.150000	0.11195	0.555000	0.69702	GAA		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13602558	13602558	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13602558C>T	ENST00000040738.5	-	10	6101	c.5966G>A	c.(5965-5967)aGt>aAt	p.S1989N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1989						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1989N(1)									TTCGAGCTGACTGTCACTTTG	0.483																																					p.S1989N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5966A	4						.						129.0	121.0	124.0					4																	13602558		2203	4300	6503	13211656	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5966G>A	4.37:g.13602558C>T	ENSP00000040738:p.Ser1989Asn		13211656	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702856	0.30232	.	.	ENSG00000038219	ENST00000040738	T	0.10763	2.84	5.62	4.77	0.60923	.	0.437537	0.23868	N	0.043766	T	0.11452	0.0279	L	0.29908	0.895	0.26983	N	0.965324	P	0.44877	0.845	B	0.43478	0.421	T	0.04467	-1.0949	10	0.59425	D	0.04	-1.778	13.9052	0.63831	0.1526:0.8473:0.0:0.0	.	1989	Q8NFC6	BOD1L_HUMAN	N	1989	ENSP00000040738:S1989N	ENSP00000040738:S1989N	S	-	2	0	BOD1L	13211656	0.213000	0.23551	0.092000	0.20876	0.205000	0.24178	0.797000	0.26999	1.348000	0.45733	-0.314000	0.08810	AGT		0.483	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13604502	13604502	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13604502C>A	ENST00000040738.5	-	10	4157	c.4022G>T	c.(4021-4023)aGt>aTt	p.S1341I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1341						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1341I(1)									TTTGCTGTCACTTGTCTTAAG	0.473																																					p.S1341I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4022T	4						.						159.0	154.0	156.0					4																	13604502		2203	4300	6503	13213600	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4022G>T	4.37:g.13604502C>A	ENSP00000040738:p.Ser1341Ile		13213600	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988758	0.53934	.	.	ENSG00000038219	ENST00000040738	T	0.10099	2.91	5.55	2.89	0.33648	.	0.639490	0.15081	N	0.281654	T	0.10895	0.0266	L	0.27053	0.805	0.09310	N	1	P	0.48911	0.917	P	0.47470	0.548	T	0.13548	-1.0505	10	0.59425	D	0.04	-7.5534	8.9765	0.35939	0.0:0.7023:0.0:0.2977	.	1341	Q8NFC6	BOD1L_HUMAN	I	1341	ENSP00000040738:S1341I	ENSP00000040738:S1341I	S	-	2	0	BOD1L	13213600	0.000000	0.05858	0.006000	0.13384	0.901000	0.52897	0.034000	0.13776	0.299000	0.22661	0.655000	0.94253	AGT		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13604737	13604737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13604737C>A	ENST00000040738.5	-	10	3922	c.3787G>T	c.(3787-3789)Gaa>Taa	p.E1263*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1263						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E1263*(1)									GCAACATGTTCTTCAGCAGCT	0.403																																					p.E1263X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3787T	4						.						85.0	79.0	81.0					4																	13604737		2203	4300	6503	13213835	SO:0001587	stop_gained	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3787G>T	4.37:g.13604737C>A	ENSP00000040738:p.Glu1263*		13213835	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	43	9.891644	0.99289	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.7	5.7	0.88788	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-3.7592	17.9922	0.89172	0.0:1.0:0.0:0.0	.	.	.	.	X	1263	.	ENSP00000040738:E1263X	E	-	1	0	BOD1L	13213835	0.990000	0.36364	0.448000	0.26945	0.019000	0.09904	3.243000	0.51392	2.684000	0.91462	0.655000	0.94253	GAA		0.403	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13605806	13605806	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13605806C>A	ENST00000040738.5	-	10	2853	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	906	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E906D(1)									ACACAAGTTTCTCTTCTAACA	0.378																																					p.E906D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2718T	4						.						135.0	133.0	134.0					4																	13605806		2203	4300	6503	13214904	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2718G>T	4.37:g.13605806C>A	ENSP00000040738:p.Glu906Asp		13214904	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656564	0.03480	.	.	ENSG00000038219	ENST00000040738	T	0.08458	3.09	5.4	-8.5	0.00927	.	0.674653	0.13673	N	0.370701	T	0.02047	0.0064	N	0.05230	-0.09	0.09310	N	1	B	0.14438	0.01	B	0.14578	0.011	T	0.36504	-0.9745	10	0.18710	T	0.47	-0.2034	0.0642	0.00017	0.2982:0.1812:0.2283:0.2923	.	906	Q8NFC6	BOD1L_HUMAN	D	906	ENSP00000040738:E906D	ENSP00000040738:E906D	E	-	3	2	BOD1L	13214904	0.549000	0.26481	0.008000	0.14137	0.484000	0.33280	-0.271000	0.08572	-1.468000	0.01892	0.555000	0.69702	GAG		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13606462	13606462	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13606462C>T	ENST00000040738.5	-	10	2197	c.2062G>A	c.(2062-2064)Gaa>Aaa	p.E688K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	688	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E688K(1)									TGGGGCTCTTCGGTGCAAATT	0.408																																					p.E688K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2062A	4						.						260.0	278.0	272.0					4																	13606462		2203	4300	6503	13215560	SO:0001583	missense	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2062G>A	4.37:g.13606462C>T	ENSP00000040738:p.Glu688Lys		13215560	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880638	0.51801	.	.	ENSG00000038219	ENST00000040738	T	0.12039	2.72	5.71	5.71	0.89125	.	0.305505	0.23664	N	0.045784	T	0.21307	0.0513	L	0.29908	0.895	0.39782	D	0.972319	D	0.69078	0.997	P	0.53809	0.735	T	0.00804	-1.1559	10	0.36615	T	0.2	-9.8996	19.8416	0.96692	0.0:1.0:0.0:0.0	.	688	Q8NFC6	BOD1L_HUMAN	K	688	ENSP00000040738:E688K	ENSP00000040738:E688K	E	-	1	0	BOD1L	13215560	0.999000	0.42202	0.951000	0.38953	0.054000	0.15201	5.360000	0.66086	2.694000	0.91930	0.563000	0.77884	GAA		0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13606585	13606585	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13606585C>A	ENST00000040738.5	-	10	2074	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	647	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E647*(1)									AATTTGGATTCATTTTTGTTT	0.408																																					p.E647X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1939T	4						.						109.0	107.0	107.0					4																	13606585		2203	4300	6503	13215683	SO:0001587	stop_gained	259282	exon10			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1939G>T	4.37:g.13606585C>A	ENSP00000040738:p.Glu647*		13215683	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	40	8.230253	0.98717	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.71	5.71	0.89125	.	0.166757	0.28589	N	0.014811	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-1.7963	19.8416	0.96692	0.0:1.0:0.0:0.0	.	.	.	.	X	647	.	ENSP00000040738:E647X	E	-	1	0	BOD1L	13215683	1.000000	0.71417	0.888000	0.34837	0.952000	0.60782	5.677000	0.68142	2.694000	0.91930	0.563000	0.77884	GAA		0.408	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
BOD1L1	259282	broad.mit.edu	37	4	13612703	13612703	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:13612703T>A	ENST00000040738.5	-	6	1481	c.1346A>T	c.(1345-1347)aAt>aTt	p.N449I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	449	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N449I(1)									TTTTGTTTTATTCTGTTTGTT	0.323																																					p.N449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1346T	4						.						141.0	126.0	131.0					4																	13612703		2202	4298	6500	13221801	SO:0001583	missense	259282	exon6			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1346A>T	4.37:g.13612703T>A	ENSP00000040738:p.Asn449Ile		13221801	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839067	0.51057	.	.	ENSG00000038219	ENST00000040738	T	0.08634	3.07	4.96	-3.08	0.05347	.	0.835046	0.10480	N	0.669671	T	0.08670	0.0215	L	0.59436	1.845	0.09310	N	1	P	0.40875	0.731	B	0.38428	0.273	T	0.15694	-1.0428	10	0.45353	T	0.12	-0.2899	8.763	0.34687	0.1063:0.464:0.0:0.4297	.	449	Q8NFC6	BOD1L_HUMAN	I	449	ENSP00000040738:N449I	ENSP00000040738:N449I	N	-	2	0	BOD1L	13221801	0.647000	0.27304	0.023000	0.16930	0.910000	0.53928	0.047000	0.14056	-0.614000	0.05687	-0.334000	0.08254	AAT		0.323	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
JADE1	79960	broad.mit.edu	37	4	129764138	129764138	+	Missense_Mutation	SNP	G	G	A	rs371320173		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:129764138G>A	ENST00000226319.6	+	3	363	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	PHF17_ENST00000512960.1_Missense_Mutation_p.R28Q|PHF17_ENST00000413543.2_Missense_Mutation_p.R28Q|PHF17_ENST00000511647.1_Missense_Mutation_p.R28Q|PHF17_ENST00000452328.2_Missense_Mutation_p.R28Q	NM_199320.2	NP_955352.1												p.R28Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGAATTCCCGATCCCAGCAT	0.448																																					p.R28Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	4						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	124.0	119.0	120.0		83,83	4.9	1.0	4		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PHF17	NM_024900.3,NM_199320.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	28/510,28/843	129764138	1,13005	2203	4300	6503	129983588	SO:0001583	missense	79960	exon3																														ENST00000226319.6:c.83G>A	4.37:g.129764138G>A	ENSP00000226319:p.Arg28Gln		129983588	NM_199320		Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065848	0.55539	0.0	1.16E-4	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T	0.43294	1.05;0.95;1.06;1.05;0.95	4.86	4.86	0.63082	.	0.354304	0.28677	N	0.014505	T	0.43634	0.1256	L	0.36672	1.1	0.41592	D	0.988809	D;D;D	0.63046	0.992;0.992;0.974	P;B;B	0.50490	0.642;0.381;0.243	T	0.24941	-1.0146	9	.	.	.	.	16.362	0.83271	0.0:0.0:1.0:0.0	.	28;28;28	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	Q	28	ENSP00000226319:R28Q;ENSP00000423737:R28Q;ENSP00000388015:R28Q;ENSP00000425730:R28Q;ENSP00000404211:R28Q	.	R	+	2	0	PHF17	129983588	1.000000	0.71417	0.982000	0.44146	0.992000	0.81027	4.665000	0.61547	2.512000	0.84698	0.561000	0.74099	CGA		0.448	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		
PCDH10	57575	broad.mit.edu	37	4	134073151	134073151	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:134073151G>T	ENST00000264360.5	+	1	2682	c.1856G>T	c.(1855-1857)aGc>aTc	p.S619I	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	619	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S619I(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCACTTACAGCATCGTGCGT	0.711																																					p.S619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856T	4						.						33.0	37.0	35.0					4																	134073151		2165	4272	6437	134292601	SO:0001583	missense	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1856G>T	4.37:g.134073151G>T	ENSP00000264360:p.Ser619Ile		134292601	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117606	0.56505	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.56103	0.48	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000050	T	0.76263	0.3963	M	0.87328	2.875	0.80722	D	1	D;P	0.76494	0.999;0.699	D;P	0.87578	0.998;0.579	T	0.81300	-0.0995	10	0.62326	D	0.03	.	17.0032	0.86386	0.0:0.0:1.0:0.0	.	619;619	Q9P2E7;Q96SF0	PCD10_HUMAN;.	I	619	ENSP00000264360:S619I	ENSP00000264360:S619I	S	+	2	0	PCDH10	134292601	0.253000	0.23982	1.000000	0.80357	0.111000	0.19643	1.153000	0.31676	2.325000	0.78763	0.655000	0.94253	AGC		0.711	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
PCDH18	54510	broad.mit.edu	37	4	138442411	138442411	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:138442411C>T	ENST00000344876.4	-	4	3566	c.3180G>A	c.(3178-3180)acG>acA	p.T1060T	PCDH18_ENST00000510305.1_Silent_p.T271T|PCDH18_ENST00000511115.1_Silent_p.T240T|PCDH18_ENST00000507846.1_Silent_p.T839T|PCDH18_ENST00000412923.2_Silent_p.T1059T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1060	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1060T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTGAAAATGCGTACTGGCTG	0.587																																					p.T1060T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3180A	4						.						43.0	42.0	42.0					4																	138442411		2203	4300	6503	138661861	SO:0001819	synonymous_variant	54510	exon4			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3180G>A	4.37:g.138442411C>T			138661861	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.587	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138450792	138450792	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:138450792G>T	ENST00000344876.4	-	1	2837	c.2451C>A	c.(2449-2451)ttC>ttA	p.F817L	PCDH18_ENST00000510305.1_Missense_Mutation_p.F28L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.F597L|PCDH18_ENST00000412923.2_Missense_Mutation_p.F817L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	817					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F817L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTCTAATGAGAAATTCTCTG	0.458																																					p.F817L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2451A	4						.						120.0	104.0	109.0					4																	138450792		2203	4300	6503	138670242	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2451C>A	4.37:g.138450792G>T	ENSP00000355082:p.Phe817Leu		138670242	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367849	0.42003	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305	T;T;T;T	0.54279	0.73;0.67;0.58;1.51	5.29	3.54	0.40534	.	0.000000	0.45361	D	0.000362	T	0.54224	0.1845	L	0.57536	1.79	0.80722	D	1	P;D;P	0.56035	0.826;0.974;0.826	B;P;B	0.50659	0.292;0.647;0.292	T	0.49224	-0.8962	10	0.23891	T	0.37	.	10.8728	0.46894	0.153:0.0:0.847:0.0	.	597;817;817	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	L	817;817;597;28	ENSP00000355082:F817L;ENSP00000390688:F817L;ENSP00000425903:F597L;ENSP00000424269:F28L	ENSP00000355082:F817L	F	-	3	2	PCDH18	138670242	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.844000	0.48246	0.780000	0.33566	0.655000	0.94253	TTC		0.458	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452718	138452718	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:138452718C>T	ENST00000344876.4	-	1	911	c.525G>A	c.(523-525)tcG>tcA	p.S175S	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000412923.2_Silent_p.S175S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S175S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGCAGAGAGCGAGTATGTGT	0.473																																					p.S175S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G525A	4						.						64.0	62.0	63.0					4																	138452718		2203	4300	6503	138672168	SO:0001819	synonymous_variant	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.525G>A	4.37:g.138452718C>T			138672168	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.473	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
SLC7A11	23657	broad.mit.edu	37	4	139100419	139100419	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:139100419G>T	ENST00000280612.5	-	11	1675	c.1396C>A	c.(1396-1398)Ctc>Atc	p.L466I	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	466					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.L466I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATAATAAAGAGATAATACGCA	0.428																																					p.L466I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1396A	4						.						67.0	66.0	66.0					4																	139100419		2203	4299	6502	139319869	SO:0001583	missense	23657	exon11			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1396C>A	4.37:g.139100419G>T	ENSP00000280612:p.Leu466Ile		139319869	NM_014331	A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389363	0.42410	.	.	ENSG00000151012	ENST00000280612	D	0.91068	-2.78	5.45	4.42	0.53409	.	0.178950	0.48767	D	0.000161	D	0.85097	0.5619	L	0.35288	1.05	0.35864	D	0.827711	B	0.18013	0.025	B	0.18263	0.021	D	0.83443	0.0044	10	0.26408	T	0.33	.	15.0998	0.72266	0.0796:0.0:0.9204:0.0	.	466	Q9UPY5	XCT_HUMAN	I	466	ENSP00000280612:L466I	ENSP00000280612:L466I	L	-	1	0	SLC7A11	139319869	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.023000	0.57211	2.546000	0.85860	0.655000	0.94253	CTC		0.428	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2		
ELF2	1998	broad.mit.edu	37	4	139981756	139981756	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:139981756C>T	ENST00000394235.2	-	9	1345	c.843G>A	c.(841-843)ccG>ccA	p.P281P	ELF2_ENST00000510408.1_Silent_p.P221P|ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000379550.1_Silent_p.P293P|ELF2_ENST00000265495.4_Silent_p.P281P|ELF2_ENST00000358635.3_Silent_p.P233P|ELF2_ENST00000379549.2_Silent_p.P204P	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.P281P(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTATGTTTTTCGGCATATCCT	0.378																																					p.P233P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G699A	4						.						115.0	110.0	112.0					4																	139981756		2203	4300	6503	140201206	SO:0001819	synonymous_variant	1998	exon6			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.843G>A	4.37:g.139981756C>T			140201206	NM_006874		Silent	SNP	ENST00000394235.2	37	CCDS3744.1																																																																																				0.378	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874	
ELF2	1998	broad.mit.edu	37	4	139993092	139993092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:139993092C>A	ENST00000394235.2	-	6	920	c.418G>T	c.(418-420)Gag>Tag	p.E140*	ELF2_ENST00000510408.1_Nonsense_Mutation_p.E80*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.E152*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.E140*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.E92*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.E92*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.E140*(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGTTCAGACTCTTCAGTTGAC	0.403																																					p.E92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G274T	4						.						151.0	146.0	148.0					4																	139993092		2203	4300	6503	140212542	SO:0001587	stop_gained	1998	exon3			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.418G>T	4.37:g.139993092C>A	ENSP00000377782:p.Glu140*		140212542	NM_006874		Nonsense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864478	0.97043	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000510408;ENST00000420916;ENST00000512627	.	.	.	5.87	5.87	0.94306	.	0.238872	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	92;140;152;140;92;80;92;80	.	.	E	-	1	0	ELF2	140212542	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.831000	0.75324	2.941000	0.99782	0.655000	0.94253	GAG		0.403	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874	
RAB33B	83452	broad.mit.edu	37	4	140393970	140393970	+	Missense_Mutation	SNP	C	C	A	rs139890586		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:140393970C>A	ENST00000305626.5	+	2	769	c.380C>A	c.(379-381)tCt>tAt	p.S127Y		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	127					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S127Y(1)		large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AGCCTACCATCTTGGATAGAA	0.403																																					p.S127Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380A	4						.						124.0	111.0	115.0					4																	140393970		2203	4300	6503	140613420	SO:0001583	missense	83452	exon2			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.380C>A	4.37:g.140393970C>A	ENSP00000306496:p.Ser127Tyr		140613420	NM_031296	B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317966	0.60524	.	.	ENSG00000172007	ENST00000305626	T	0.78003	-1.14	5.75	4.01	0.46588	Small GTP-binding protein domain (1);	0.102312	0.64402	D	0.000003	T	0.70552	0.3237	N	0.12569	0.235	0.09310	N	1	P	0.48640	0.913	P	0.53266	0.722	T	0.64554	-0.6380	10	0.66056	D	0.02	.	10.9451	0.47296	0.0:0.7977:0.0:0.2023	.	127	Q9H082	RB33B_HUMAN	Y	127	ENSP00000306496:S127Y	ENSP00000306496:S127Y	S	+	2	0	RAB33B	140613420	0.971000	0.33674	0.713000	0.30519	0.996000	0.88848	3.831000	0.55776	1.438000	0.47492	0.561000	0.74099	TCT		0.403	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296	
SETD7	80854	broad.mit.edu	37	4	140454447	140454447	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:140454447G>T	ENST00000274031.3	-	3	880	c.244C>A	c.(244-246)Ctc>Atc	p.L82I	SETD7_ENST00000406354.1_Missense_Mutation_p.F64L|SETD7_ENST00000506866.2_Missense_Mutation_p.L82I|SETD7_ENST00000404104.3_Missense_Mutation_p.L82I	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	82					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)	p.L82I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGCCCTGGAGAACTCCCCCA	0.498																																					p.L82I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244A	4						.						109.0	95.0	99.0					4																	140454447		2203	4300	6503	140673897	SO:0001583	missense	80854	exon3			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.244C>A	4.37:g.140454447G>T	ENSP00000274031:p.Leu82Ile		140673897	NM_030648	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	ENST00000274031.3	37	CCDS3748.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.714661|2.714661	0.48622|0.48622	.|.	.|.	ENSG00000145391|ENSG00000145391	ENST00000406354|ENST00000506866;ENST00000274031;ENST00000404104	.|T;T;T	.|0.43294	.|0.98;0.98;0.95	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31702|0.31702	0.0805|0.0805	N|N	0.11364|0.11364	0.135|0.135	0.33175|0.33175	D|D	0.548862|0.548862	.|D;P	.|0.54397	.|0.966;0.755	.|B;P	.|0.44647	.|0.284;0.456	T|T	0.29274|0.29274	-1.0017|-1.0017	6|10	0.87932|0.31617	D|T	0|0.26	-22.0062|-22.0062	19.8677|19.8677	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|82;82	.|B5MCZ8;Q8WTS6	.|.;SETD7_HUMAN	L|I	64|82	.|ENSP00000427300:L82I;ENSP00000274031:L82I;ENSP00000385913:L82I	ENSP00000384336:F64L|ENSP00000274031:L82I	F|L	-|-	3|1	2|0	SETD7|SETD7	140673897|140673897	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	4.970000|4.970000	0.63742|0.63742	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	TTC|CTC		0.498	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257236.1	NM_030648	
CLGN	1047	broad.mit.edu	37	4	141310404	141310404	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:141310404G>A	ENST00000325617.5	-	15	2247	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	CLGN_ENST00000537281.1_Missense_Mutation_p.R603C|CLGN_ENST00000414773.1_Missense_Mutation_p.R603C	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	603					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.R603C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTCTTTTGCGTACTGACTTT	0.358																																					p.R603C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1807T	4						.						147.0	147.0	147.0					4																	141310404		2203	4300	6503	141529854	SO:0001583	missense	1047	exon15			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1807C>T	4.37:g.141310404G>A	ENSP00000326699:p.Arg603Cys		141529854	NM_004362	B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340545	0.81911	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.56611	0.45;0.45;0.45	5.22	5.22	0.72569	.	0.132286	0.49305	D	0.000141	T	0.70928	0.3280	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73329	-0.4017	10	0.87932	D	0	-4.9462	19.1343	0.93420	0.0:0.0:1.0:0.0	.	603	O14967	CLGN_HUMAN	C	603;603;603;520	ENSP00000326699:R603C;ENSP00000392782:R603C;ENSP00000439381:R603C	ENSP00000326699:R603C	R	-	1	0	CLGN	141529854	1.000000	0.71417	0.980000	0.43619	0.841000	0.47740	5.868000	0.69605	2.584000	0.87258	0.591000	0.81541	CGC		0.358	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	
TBC1D9	23158	broad.mit.edu	37	4	141555221	141555221	+	Missense_Mutation	SNP	G	G	A	rs375019047		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:141555221G>A	ENST00000442267.2	-	16	2701	c.2627C>T	c.(2626-2628)gCt>gTt	p.A876V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	876							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A876V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AAAGAGAAGAGCAAACATTCC	0.527																																					p.A876V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2627T	4						.	G	VAL/ALA	1,4213		0,1,2106	73.0	75.0	74.0		2627	4.3	0.0	4		74	0,8446		0,0,4223	no	missense	TBC1D9	NM_015130.2	64	0,1,6329	AA,AG,GG		0.0,0.0237,0.0079	benign	876/1267	141555221	1,12659	2107	4223	6330	141774671	SO:0001583	missense	23158	exon16			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2627C>T	4.37:g.141555221G>A	ENSP00000411197:p.Ala876Val		141774671	NM_015130	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	1.850	-0.465351	0.04476	2.37E-4	0.0	ENSG00000109436	ENST00000442267	T	0.42900	0.96	6.02	4.29	0.51040	EF-hand-like domain (1);	0.600125	0.18532	N	0.138476	T	0.28566	0.0707	L	0.28694	0.88	0.24401	N	0.99471	B	0.02656	0.0	B	0.04013	0.001	T	0.16512	-1.0400	10	0.29301	T	0.29	-0.0084	7.8812	0.29623	0.1415:0.1322:0.7263:0.0	.	876	Q6ZT07	TBCD9_HUMAN	V	876	ENSP00000411197:A876V	ENSP00000411197:A876V	A	-	2	0	TBC1D9	141774671	0.076000	0.21285	0.029000	0.17559	0.005000	0.04900	1.610000	0.36869	0.867000	0.35654	-0.150000	0.13652	GCT		0.527	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
RNF150	57484	broad.mit.edu	37	4	141888805	141888805	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:141888805C>T	ENST00000515673.2	-	2	740	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.R236Q|RNF150_ENST00000420921.2_Missense_Mutation_p.R95Q|RNF150_ENST00000379512.2_Missense_Mutation_p.R95Q|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	236						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R236Q(2)|p.R145Q(2)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATTTGCATATCGAAACCTCTG	0.378																																					p.R236Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G707A	4						.						74.0	72.0	73.0					4																	141888805		2203	4300	6503	142108255	SO:0001583	missense	57484	exon2			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.707G>A	4.37:g.141888805C>T	ENSP00000425840:p.Arg236Gln		142108255	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	36	5.627034	0.96671	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T	0.19938	2.11;2.11;3.1;3.12;2.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	T	0.34925	-0.9809	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	236;236	Q9ULK6-3;Q9ULK6	.;RN150_HUMAN	Q	95;95;236;236;67	ENSP00000368827:R95Q;ENSP00000394581:R95Q;ENSP00000425840:R236Q;ENSP00000425568:R236Q;ENSP00000425947:R67Q	ENSP00000368827:R95Q	R	-	2	0	RNF150	142108255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	CGA		0.378	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
ZNF330	27309	broad.mit.edu	37	4	142147987	142147987	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:142147987G>A	ENST00000262990.4	+	5	506	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ZNF330_ENST00000421169.2_Missense_Mutation_p.G33D	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	93						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.G93D(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TACAGTACTGGCCTTGCAATG	0.353																																					p.G93D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	4						.						261.0	231.0	241.0					4																	142147987		2203	4300	6503	142367437	SO:0001583	missense	27309	exon5			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.278G>A	4.37:g.142147987G>A	ENSP00000262990:p.Gly93Asp		142367437	NM_014487	B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	38	6.749388	0.97809	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.71	4.86	0.63082	.	0.046997	0.85682	D	0.000000	T	0.73426	0.3585	M	0.87547	2.89	0.80722	D	1	P;D	0.89917	0.468;1.0	B;D	0.97110	0.371;1.0	T	0.79883	-0.1615	10	0.87932	D	0	-9.7978	16.7055	0.85371	0.0:0.1296:0.8704:0.0	.	33;93	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	D	93;93;93;93;33	ENSP00000262990:G93D;ENSP00000422599:G93D;ENSP00000422966:G93D;ENSP00000422251:G93D;ENSP00000397397:G33D	ENSP00000262990:G93D	G	+	2	0	ZNF330	142367437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	1.380000	0.46344	0.655000	0.94253	GGC		0.353	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487	
INPP4B	8821	broad.mit.edu	37	4	143159104	143159104	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:143159104C>T	ENST00000513000.1	-	13	1182	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	INPP4B_ENST00000308502.4_Missense_Mutation_p.R250Q|INPP4B_ENST00000509777.1_Missense_Mutation_p.R250Q|INPP4B_ENST00000508116.1_Missense_Mutation_p.R250Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.R250Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	250					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTCTCGAATTCGCATCCACTT	0.318																																					p.R250Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	4						.						47.0	46.0	46.0					4																	143159104		2201	4295	6496	143378554	SO:0001583	missense	8821	exon13			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.749G>A	4.37:g.143159104C>T	ENSP00000425487:p.Arg250Gln		143378554	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635735	0.29068	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.49	0.805	0.18703	.	0.417260	0.24398	N	0.038872	T	0.20618	0.0496	L	0.38531	1.155	0.27235	N	0.959283	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.19943	-1.0290	10	0.23302	T	0.38	.	9.9828	0.41824	0.0:0.6665:0.0:0.3335	.	121;250	B7Z6T2;O15327	.;INP4B_HUMAN	Q	250;250;250;121;250;250;65;65;250;121	ENSP00000425487:R250Q;ENSP00000262992:R250Q;ENSP00000308441:R250Q;ENSP00000423954:R250Q;ENSP00000422793:R250Q;ENSP00000426207:R65Q;ENSP00000427250:R250Q;ENSP00000421065:R121Q	ENSP00000262992:R250Q	R	-	2	0	INPP4B	143378554	0.757000	0.28394	0.992000	0.48379	0.470000	0.32858	1.064000	0.30579	0.097000	0.17492	-0.150000	0.13652	CGA		0.318	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
INPP4B	8821	broad.mit.edu	37	4	143181683	143181683	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:143181683C>A	ENST00000513000.1	-	12	1083	c.650G>T	c.(649-651)aGt>aTt	p.S217I	INPP4B_ENST00000308502.4_Missense_Mutation_p.S217I|INPP4B_ENST00000509777.1_Missense_Mutation_p.S217I|INPP4B_ENST00000508116.1_Missense_Mutation_p.S217I|INPP4B_ENST00000262992.4_Missense_Mutation_p.S217I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	217					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.S217I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCCGCTCACACTTTCCGGGGC	0.274																																					p.S217I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650T	4						.						55.0	55.0	55.0					4																	143181683		2203	4300	6503	143401133	SO:0001583	missense	8821	exon12			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.650G>T	4.37:g.143181683C>A	ENSP00000425487:p.Ser217Ile		143401133	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203326	0.38905	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.52	2.88	0.33553	.	0.616244	0.15738	N	0.247079	T	0.26448	0.0646	L	0.43923	1.385	0.09310	N	0.999997	B;P	0.37708	0.374;0.606	B;B	0.41135	0.203;0.348	T	0.11665	-1.0578	10	0.41790	T	0.15	.	5.757	0.18178	0.0:0.6288:0.1412:0.23	.	88;217	B7Z6T2;O15327	.;INP4B_HUMAN	I	217;217;217;88;217;217;32;32;217;88	ENSP00000425487:S217I;ENSP00000262992:S217I;ENSP00000308441:S217I;ENSP00000423954:S217I;ENSP00000422793:S217I;ENSP00000426207:S32I;ENSP00000427250:S217I;ENSP00000421065:S88I	ENSP00000262992:S217I	S	-	2	0	INPP4B	143401133	0.224000	0.23674	0.538000	0.28064	0.984000	0.73092	0.255000	0.18333	0.296000	0.22592	0.655000	0.94253	AGT		0.274	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
SMARCA5	8467	broad.mit.edu	37	4	144445600	144445600	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:144445600G>A	ENST00000283131.3	+	4	962	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	167					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R167Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTTTGCACTCGATTTGAAGAC	0.368																																					p.R167Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500A	4						.						107.0	105.0	105.0					4																	144445600		2203	4300	6503	144665050	SO:0001583	missense	8467	exon4			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.500G>A	4.37:g.144445600G>A	ENSP00000283131:p.Arg167Gln		144665050	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066214	0.55539	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91124	-2.79	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.88232	0.6381	L	0.50333	1.59	0.58432	D	0.999995	B	0.24258	0.1	B	0.18871	0.023	D	0.83885	0.0281	10	0.23891	T	0.37	-23.4107	19.4826	0.95016	0.0:0.0:1.0:0.0	.	167	O60264	SMCA5_HUMAN	Q	167;110;110	ENSP00000283131:R167Q	ENSP00000283131:R167Q	R	+	2	0	SMARCA5	144665050	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.356000	0.73046	2.598000	0.87819	0.591000	0.81541	CGA		0.368	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
SMARCA5	8467	broad.mit.edu	37	4	144456033	144456033	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:144456033G>A	ENST00000283131.3	+	10	1646	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	395					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R395Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CTCCTTCGTCGAATTAAGGCT	0.358																																					p.R395Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184A	4						.						110.0	95.0	100.0					4																	144456033		2203	4300	6503	144675483	SO:0001583	missense	8467	exon10			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1184G>A	4.37:g.144456033G>A	ENSP00000283131:p.Arg395Gln		144675483	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	36	5.933636	0.97122	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.99961	-9.38	5.64	5.64	0.86602	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98050	1.0387	10	0.87932	D	0	-11.8305	20.0804	0.97772	0.0:0.0:1.0:0.0	.	395	O60264	SMCA5_HUMAN	Q	395;338;338	ENSP00000283131:R395Q	ENSP00000283131:R395Q	R	+	2	0	SMARCA5	144675483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.824000	0.97209	0.650000	0.86243	CGA		0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
SMARCA5	8467	broad.mit.edu	37	4	144467951	144467951	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:144467951G>T	ENST00000283131.3	+	20	3005	c.2543G>T	c.(2542-2544)aGa>aTa	p.R848I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	848	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R848I(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGAATAAGAGAGATTTTAAC	0.333																																					p.R848I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2543T	4						.						83.0	86.0	85.0					4																	144467951		2203	4299	6502	144687401	SO:0001583	missense	8467	exon20			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2543G>T	4.37:g.144467951G>T	ENSP00000283131:p.Arg848Ile		144687401	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996059	0.93167	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91843	-2.92	5.32	5.32	0.75619	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.94601	0.8260	M	0.93898	3.47	0.80722	D	1	P	0.35780	0.52	B	0.36030	0.216	D	0.95342	0.8439	10	0.87932	D	0	-6.5394	19.0086	0.92863	0.0:0.0:1.0:0.0	.	848	O60264	SMCA5_HUMAN	I	848;791;791	ENSP00000283131:R848I	ENSP00000283131:R848I	R	+	2	0	SMARCA5	144687401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.559000	0.98135	2.487000	0.83934	0.655000	0.94253	AGA		0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
SMARCA5	8467	broad.mit.edu	37	4	144468043	144468043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:144468043G>T	ENST00000283131.3	+	20	3097	c.2635G>T	c.(2635-2637)Gaa>Taa	p.E879*		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	879	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E879*(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AACTCCAGAAGAAGTCATTGA	0.343																																					p.E879X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2635T	4						.						85.0	92.0	89.0					4																	144468043		2202	4300	6502	144687493	SO:0001587	stop_gained	8467	exon20			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2635G>T	4.37:g.144468043G>T	ENSP00000283131:p.Glu879*		144687493	NM_003601		Nonsense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	45	12.057546	0.99631	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.852	19.0701	0.93130	0.0:0.0:1.0:0.0	.	.	.	.	X	879;822;822	.	ENSP00000283131:E879X	E	+	1	0	SMARCA5	144687493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.572000	0.98179	2.502000	0.84385	0.591000	0.81541	GAA		0.343	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
GYPB	2994	broad.mit.edu	37	4	144922363	144922363	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:144922363C>A	ENST00000502664.1	-	2	162	c.111G>T	c.(109-111)aaG>aaT	p.K37N	GYPB_ENST00000283126.7_Missense_Mutation_p.K37N|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000429670.2_Missense_Mutation_p.K37N|GYPB_ENST00000513128.1_Intron|GYPB_ENST00000510196.2_5'UTR	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	37						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.K37N(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGATGTAACTCTTTGTGACTG	0.368																																					p.K37N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G111T	4						.						132.0	166.0	154.0					4																	144922363		2196	4300	6496	145141813	SO:0001583	missense	2994	exon2				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.111G>T	4.37:g.144922363C>A	ENSP00000427690:p.Lys37Asn		145141813	NM_002100	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	CCDS54809.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291018	0.23564	.	.	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000429670	T;T;T	0.15139	2.45;2.45;2.85	1.46	-2.92	0.05615	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.09310	N	1	D	0.56287	0.975	D	0.65684	0.937	T	0.13980	-1.0489	8	0.62326	D	0.03	.	5.3838	0.16206	0.0:0.2514:0.5794:0.1692	.	37	E2QBW7	.	N	37	ENSP00000283126:K37N;ENSP00000427690:K37N;ENSP00000394200:K37N	ENSP00000283126:K37N	K	-	3	2	GYPB	145141813	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.290000	0.02777	-1.312000	0.02306	0.121000	0.15741	AAG		0.368	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100	
HHIP	64399	broad.mit.edu	37	4	145573761	145573761	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:145573761T>G	ENST00000296575.3	+	2	939	c.284T>G	c.(283-285)tTt>tGt	p.F95C	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.F95C	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	95					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.F95C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTCAGATATTTTCTGTTACC	0.343																																					p.F95C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T284G	4						.						74.0	76.0	75.0					4																	145573761		2203	4299	6502	145793211	SO:0001583	missense	64399	exon2			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.284T>G	4.37:g.145573761T>G	ENSP00000296575:p.Phe95Cys		145793211	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729925	0.89390	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.76839	-1.05;-1.05	5.83	5.83	0.93111	Folate receptor-like (1);	0.270588	0.40640	N	0.001059	D	0.83783	0.5329	L	0.53249	1.67	0.53005	D	0.999968	D;D	0.62365	0.975;0.991	P;P	0.59703	0.739;0.862	D	0.84769	0.0766	10	0.56958	D	0.05	-12.2154	16.2127	0.82178	0.0:0.0:0.0:1.0	.	95;95	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	C	95	ENSP00000296575:F95C;ENSP00000408587:F95C	ENSP00000296575:F95C	F	+	2	0	HHIP	145793211	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	TTT		0.343	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
MMAA	166785	broad.mit.edu	37	4	146563584	146563584	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:146563584G>T	ENST00000281317.5	+	3	1719	c.509G>T	c.(508-510)aGa>aTa	p.R170I	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	170					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.R170I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTACTGAGAGAGGGCACAAA	0.428																																					p.R170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G509T	4						.						202.0	202.0	202.0					4																	146563584		2203	4300	6503	146783034	SO:0001583	missense	166785	exon3			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.509G>T	4.37:g.146563584G>T	ENSP00000281317:p.Arg170Ile		146783034	NM_172250	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309085	0.60414	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.91792	-2.91	5.56	3.54	0.40534	ATPase, AAA+ type, core (1);	0.352169	0.33895	N	0.004459	D	0.89480	0.6727	L	0.58101	1.795	0.80722	D	1	B;B	0.29646	0.199;0.253	B;B	0.34242	0.178;0.173	D	0.86934	0.2075	10	0.45353	T	0.12	-25.1325	9.2116	0.37322	0.2724:0.0:0.7276:0.0	.	170;170	Q8IVH4;D6RIS5	MMAA_HUMAN;.	I	170	ENSP00000281317:R170I	ENSP00000281317:R170I	R	+	2	0	MMAA	146783034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.681000	0.46926	1.311000	0.45024	0.591000	0.81541	AGA		0.428	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
MMAA	166785	broad.mit.edu	37	4	146572263	146572263	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:146572263T>G	ENST00000281317.5	+	5	1993	c.783T>G	c.(781-783)gtT>gtG	p.V261V	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_Intron	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	261					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.V261V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATGTTTGTTTTACTACTGC	0.348																																					p.V261V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T783G	4						.						244.0	219.0	227.0					4																	146572263		2203	4300	6503	146791713	SO:0001819	synonymous_variant	166785	exon5			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.783T>G	4.37:g.146572263T>G			146791713	NM_172250	B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	CCDS3766.1																																																																																				0.348	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
MMAA	166785	broad.mit.edu	37	4	146576305	146576305	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:146576305C>T	ENST00000281317.5	+	7	2186	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	MMAA_ENST00000541599.1_Missense_Mutation_p.R45C	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	326					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.R326C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATAGGTAATTCGTATTTCTGC	0.423																																					p.R326C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976T	4						.						54.0	55.0	55.0					4																	146576305		2203	4300	6503	146795755	SO:0001583	missense	166785	exon7			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.976C>T	4.37:g.146576305C>T	ENSP00000281317:p.Arg326Cys		146795755	NM_172250	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309160	0.81247	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	D;D	0.90900	-2.75;-2.75	5.74	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.94937	0.8088	10	0.49607	T	0.09	-13.2045	14.7177	0.69284	0.0:0.9307:0.0:0.0693	.	326	Q8IVH4	MMAA_HUMAN	C	326;326;45	ENSP00000281317:R326C;ENSP00000442284:R45C	ENSP00000281317:R326C	R	+	1	0	MMAA	146795755	1.000000	0.71417	0.894000	0.35097	0.850000	0.48378	7.456000	0.80751	1.448000	0.47680	-0.229000	0.12294	CGT		0.423	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
ZNF827	152485	broad.mit.edu	37	4	146807011	146807011	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:146807011C>A	ENST00000508784.1	-	4	1793	c.1566G>T	c.(1564-1566)gtG>gtT	p.V522V	ZNF827_ENST00000379448.4_Silent_p.V522V|ZNF827_ENST00000513320.1_Silent_p.V172V			Q17R98	ZN827_HUMAN	zinc finger protein 827	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V522V(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTTCCTCCTTCACCAGCAAAG	0.577																																					p.V522V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1566T	4						.						108.0	101.0	103.0					4																	146807011		2203	4300	6503	147026461	SO:0001819	synonymous_variant	152485	exon4			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1566G>T	4.37:g.146807011C>A			147026461	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37																																																																																					0.577	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
TTC29	83894	broad.mit.edu	37	4	147741344	147741344	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:147741344C>A	ENST00000325106.4	-	10	1260	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TTC29_ENST00000513335.1_Missense_Mutation_p.R371I|TTC29_ENST00000398886.4_Missense_Mutation_p.R371I	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	345								p.R345I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAATTGTTTCTTGCAATTTT	0.333																																					p.R345I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034T	4						.						113.0	108.0	109.0					4																	147741344		1814	4083	5897	147960794	SO:0001583	missense	83894	exon10			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.1034G>T	4.37:g.147741344C>A	ENSP00000316740:p.Arg345Ile		147960794	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923669	0.73213	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.91	0.594	0.17485	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.558686	0.20316	N	0.094733	T	0.78521	0.4296	L	0.46157	1.445	0.37903	D	0.931129	P;P;P	0.51147	0.942;0.911;0.942	P;P;P	0.58331	0.837;0.461;0.837	T	0.77056	-0.2729	10	0.56958	D	0.05	-4.337	8.2474	0.31698	0.0:0.3209:0.0:0.6791	.	345;371;345	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	I	371;371;345;345	ENSP00000423505:R371I;ENSP00000381861:R371I;ENSP00000316740:R345I;ENSP00000425778:R345I	ENSP00000316740:R345I	R	-	2	0	TTC29	147960794	1.000000	0.71417	0.519000	0.27824	0.960000	0.62799	1.018000	0.30002	0.129000	0.18514	0.650000	0.86243	AGA		0.333	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
TTC29	83894	broad.mit.edu	37	4	147830357	147830357	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:147830357C>T	ENST00000325106.4	-	5	447	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TTC29_ENST00000513335.1_Missense_Mutation_p.R100Q|TTC29_ENST00000398886.4_Missense_Mutation_p.R100Q	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	74								p.R74Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATAACCATCTCGCAGCATGTC	0.493																																					p.R74Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221A	4						.						58.0	58.0	58.0					4																	147830357		1925	4149	6074	148049807	SO:0001583	missense	83894	exon5			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.221G>A	4.37:g.147830357C>T	ENSP00000316740:p.Arg74Gln		148049807	NM_031956	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034977	0.54896	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.05	2.91	0.33838	.	0.248820	0.35772	N	0.002983	T	0.12433	0.0302	L	0.28400	0.85	0.34758	D	0.732424	P;P;P	0.47545	0.578;0.897;0.735	B;B;B	0.36845	0.05;0.234;0.09	T	0.27806	-1.0063	10	0.29301	T	0.29	-5.4203	10.7407	0.46152	0.0:0.7992:0.0:0.2008	.	74;100;74	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	Q	100;100;74;74;74	ENSP00000423505:R100Q;ENSP00000381861:R100Q;ENSP00000316740:R74Q;ENSP00000425778:R74Q	ENSP00000316740:R74Q	R	-	2	0	TTC29	148049807	0.713000	0.27926	0.937000	0.37676	0.988000	0.76386	1.267000	0.33050	1.252000	0.44001	0.655000	0.94253	CGA		0.493	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
TMEM184C	55751	broad.mit.edu	37	4	148545976	148545976	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:148545976G>A	ENST00000296582.3	+	4	887	c.313G>A	c.(313-315)Gga>Aga	p.G105R	TMEM184C_ENST00000508208.1_Missense_Mutation_p.G105R	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	105						integral component of membrane (GO:0016021)		p.G105R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GAAATATCCCGGAATTGCAAT	0.353																																					p.G105R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	4						.						87.0	86.0	86.0					4																	148545976		2203	4300	6503	148765426	SO:0001583	missense	55751	exon4			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.313G>A	4.37:g.148545976G>A	ENSP00000296582:p.Gly105Arg		148765426	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252949	0.22965	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.40476	1.03;1.03	5.12	3.93	0.45458	.	0.544310	0.22881	N	0.054516	T	0.18087	0.0434	N	0.03294	-0.36	0.23411	N	0.997732	B	0.02656	0.0	B	0.04013	0.001	T	0.18871	-1.0323	10	0.19590	T	0.45	-1.7914	8.3426	0.32252	0.846:0.0:0.154:0.0	.	105	Q9NVA4	T184C_HUMAN	R	105	ENSP00000296582:G105R;ENSP00000425940:G105R	ENSP00000296582:G105R	G	+	1	0	TMEM184C	148765426	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.707000	0.54838	0.902000	0.36520	-0.324000	0.08512	GGA		0.353	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
ARHGAP10	79658	broad.mit.edu	37	4	148787883	148787883	+	Silent	SNP	G	G	A	rs143552684		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:148787883G>A	ENST00000336498.3	+	7	857	c.618G>A	c.(616-618)ggG>ggA	p.G206G		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.G206G(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTTTCAGGGGATGTTTACCT	0.363											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G206G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G618A	4						.	G		1,4405	2.1+/-5.4	0,1,2202	135.0	126.0	129.0		618	3.6	1.0	4	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP10	NM_024605.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		206/787	148787883	2,13004	2203	4300	6503	149007333	SO:0001819	synonymous_variant	79658	exon7			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.618G>A	4.37:g.148787883G>A		1720	149007333	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	CCDS34075.1																																																																																				0.363	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
ARHGAP10	79658	broad.mit.edu	37	4	148796273	148796273	+	Silent	SNP	C	C	T	rs374150548	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:148796273C>T	ENST00000336498.3	+	8	1043	c.804C>T	c.(802-804)gcC>gcT	p.A268A		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.A268A(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGTTTACAGCCGAAGGCTACC	0.453													C|||	8	0.00159744	0.0	0.0	5008	,	,		17207	0.0		0.0	False		,,,				2504	0.0082				p.A268A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C804T	4						.	C		1,4405	2.1+/-5.4	0,1,2202	85.0	81.0	83.0		804	-7.4	0.6	4		83	0,8600		0,0,4300	no	coding-synonymous	ARHGAP10	NM_024605.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		268/787	148796273	1,13005	2203	4300	6503	149015723	SO:0001819	synonymous_variant	79658	exon8			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.804C>T	4.37:g.148796273C>T			149015723	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000336498.3	37	CCDS34075.1																																																																																				0.453	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
CC2D2A	57545	broad.mit.edu	37	4	15518271	15518271	+	Silent	SNP	C	C	T	rs371086728	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:15518271C>T	ENST00000503292.1	+	12	1221	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	CC2D2A_ENST00000424120.1_Silent_p.D347D|CC2D2A_ENST00000389652.5_Silent_p.D298D|CC2D2A_ENST00000413206.1_Silent_p.D347D|CC2D2A_ENST00000513811.1_3'UTR	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	347					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.D298D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TTGGAGATGACGGCAGGATCC	0.453													C|||	4	0.000798722	0.0	0.0	5008	,	,		14350	0.0		0.0	False		,,,				2504	0.0041				p.D347D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041T	4						.	C		2,3828		0,2,1913	62.0	65.0	64.0		1041	-6.7	0.7	4		64	9,8225		0,9,4108	no	coding-synonymous	CC2D2A	NM_001080522.2		0,11,6021	TT,TC,CC		0.1093,0.0522,0.0912		347/1621	15518271	11,12053	1915	4117	6032	15127369	SO:0001819	synonymous_variant	57545	exon12			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1041C>T	4.37:g.15518271C>T			15127369	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.453	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
NR3C2	4306	broad.mit.edu	37	4	149181258	149181258	+	Missense_Mutation	SNP	C	C	T	rs552665133		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:149181258C>T	ENST00000358102.3	-	3	2131	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	NR3C2_ENST00000355292.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	590	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R590Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AGAAACACTTCGTAAAGTAGA	0.413																																					p.R590Q	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1769A	4						.						89.0	86.0	87.0					4																	149181258		2203	4300	6503	149400708	SO:0001583	missense	4306	exon3			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1769G>A	4.37:g.149181258C>T	ENSP00000350815:p.Arg590Gln		149400708	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719847	0.68844	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89939	-2.58;-2.59;-2.58;-2.19;-2.19;-2.59	5.98	5.98	0.97165	.	0.065195	0.64402	D	0.000005	D	0.89955	0.6865	L	0.27053	0.805	0.43242	D	0.995153	D;D	0.89917	1.0;0.998	P;P	0.59546	0.859;0.831	D	0.87978	0.2741	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	590;590	B0ZBF5;B0ZBF6	.;.	Q	590	ENSP00000341390:R590Q;ENSP00000347441:R590Q;ENSP00000350815:R590Q;ENSP00000423510:R590Q;ENSP00000343907:R590Q;ENSP00000421481:R590Q	.	R	-	2	0	NR3C2	149400708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.046000	0.64226	2.838000	0.97847	0.591000	0.81541	CGA		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
DCLK2	166614	broad.mit.edu	37	4	151153843	151153843	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151153843C>A	ENST00000296550.7	+	10	2183	c.1429C>A	c.(1429-1431)Ctc>Atc	p.L477I	DCLK2_ENST00000302176.8_Missense_Mutation_p.L494I|DCLK2_ENST00000506325.1_Missense_Mutation_p.L476I	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L494I(1)|p.L477I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGTGGAGATCTCTTTGATGC	0.438																																					p.L477I	GBM(195;186 2215 13375 16801 37459)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1429A	4						.						219.0	194.0	202.0					4																	151153843		2203	4300	6503	151373293	SO:0001583	missense	166614	exon10			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1429C>A	4.37:g.151153843C>A	ENSP00000296550:p.Leu477Ile		151373293	NM_001040260	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544505	0.86022	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.72725	-0.68;-0.68;-0.68	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.996;0.99;1.0	D	0.88817	0.3296	10	0.87932	D	0	.	13.7	0.62602	0.0:0.93:0.0:0.07	.	494;476;477	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	I	477;476;494	ENSP00000296550:L477I;ENSP00000427235:L476I;ENSP00000303887:L494I	ENSP00000296550:L477I	L	+	1	0	DCLK2	151373293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.601000	0.54059	2.865000	0.98341	0.655000	0.94253	CTC		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
DCLK2	166614	broad.mit.edu	37	4	151160922	151160922	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151160922C>A	ENST00000296550.7	+	11	2349	c.1595C>A	c.(1594-1596)tCt>tAt	p.S532Y	DCLK2_ENST00000302176.8_Missense_Mutation_p.S549Y|DCLK2_ENST00000506325.1_Missense_Mutation_p.S531Y	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S532Y(2)|p.S549Y(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGAACCAAGTCTTTGAAACTG	0.433																																					p.S532Y	GBM(195;186 2215 13375 16801 37459)											.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1595A	4						.						143.0	144.0	144.0					4																	151160922		2203	4300	6503	151380372	SO:0001583	missense	166614	exon11			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1595C>A	4.37:g.151160922C>A	ENSP00000296550:p.Ser532Tyr		151380372	NM_001040260	C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880366	0.91740	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.39406	1.08;1.08;1.08	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	N	0.25094	0.71	0.80722	D	1	P;D;P	0.76494	0.86;0.999;0.621	P;D;P	0.83275	0.561;0.996;0.593	T	0.57533	-0.7795	10	0.72032	D	0.01	.	20.1381	0.98040	0.0:1.0:0.0:0.0	.	549;531;532	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	Y	532;531;549	ENSP00000296550:S532Y;ENSP00000427235:S531Y;ENSP00000303887:S549Y	ENSP00000296550:S532Y	S	+	2	0	DCLK2	151380372	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	TCT		0.433	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260	
LRBA	987	broad.mit.edu	37	4	151388829	151388829	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151388829G>A	ENST00000357115.3	-	45	7052	c.6809C>T	c.(6808-6810)tCc>tTc	p.S2270F	LRBA_ENST00000510413.1_Missense_Mutation_p.S2259F|LRBA_ENST00000535741.1_Missense_Mutation_p.S2259F|LRBA_ENST00000507224.1_Missense_Mutation_p.S2259F|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2270	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S2270F(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATTACCTTGGACAAATCTCT	0.299																																					p.S2270F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6809T	4						.						102.0	96.0	98.0					4																	151388829		2203	4299	6502	151608279	SO:0001583	missense	987	exon45			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6809C>T	4.37:g.151388829G>A	ENSP00000349629:p.Ser2270Phe		151608279	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.715359|4.715359	0.89112|0.89112	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|D;D;D;D	.|0.82255	.|-1.59;-1.59;-1.59;-1.59	5.16|5.16	5.16|5.16	0.70880|0.70880	.|BEACH domain (4);	.|0.119820	.|0.64402	.|D	.|0.000017	D|D	0.95108|0.95108	0.8415|0.8415	H|H	0.98612|0.98612	4.28|4.28	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.999;0.987;0.995	D|D	0.97037|0.97037	0.9754|0.9754	5|10	.|0.87932	.|D	.|0	.|.	19.0142|19.0142	0.92888|0.92888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2270;2259;160	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	S|F	912|2259;2259;2270;2259	.|ENSP00000446299:S2259F;ENSP00000421552:S2259F;ENSP00000349629:S2270F;ENSP00000422180:S2259F	.|ENSP00000349629:S2270F	P|S	-|-	1|2	0|0	LRBA|LRBA	151608279|151608279	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.900000|0.900000	0.52787|0.52787	9.789000|9.789000	0.99068|0.99068	2.549000|2.549000	0.85964|0.85964	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.299	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	broad.mit.edu	37	4	151408946	151408946	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151408946C>A	ENST00000357115.3	-	43	6765	c.6522G>T	c.(6520-6522)aaG>aaT	p.K2174N	LRBA_ENST00000510413.1_Missense_Mutation_p.K2163N|LRBA_ENST00000535741.1_Missense_Mutation_p.K2163N|LRBA_ENST00000507224.1_Missense_Mutation_p.K2163N|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2174						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K2174N(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAACCACTTTCTTTACTGTTG	0.378																																					p.K2174N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6522T	4						.						118.0	107.0	111.0					4																	151408946		2203	4299	6502	151628396	SO:0001583	missense	987	exon43			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6522G>T	4.37:g.151408946C>A	ENSP00000349629:p.Lys2174Asn		151628396	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.02|19.02	3.745156|3.745156	0.69418|0.69418	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.57907|.	0.79;0.94;0.78;0.37|.	5.53|5.53	2.86|2.86	0.33363|0.33363	PH-BEACH domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58779|0.58779	0.2146|0.2146	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;B;D|.	0.76494|.	0.999;0.094;0.999|.	D;B;D|.	0.83275|.	0.985;0.173;0.996|.	T|T	0.53365|0.53365	-0.8449|-0.8449	10|5	0.21014|.	T|.	0.42|.	.|.	7.7985|7.7985	0.29160|0.29160	0.0:0.609:0.0:0.391|0.0:0.609:0.0:0.391	.|.	2174;2163;64|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	N|I	2163;2163;2174;2163|816	ENSP00000446299:K2163N;ENSP00000421552:K2163N;ENSP00000349629:K2174N;ENSP00000422180:K2163N|.	ENSP00000349629:K2174N|.	K|R	-|-	3|2	2|0	LRBA|LRBA	151628396|151628396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.825000|0.825000	0.27393|0.27393	0.697000|0.697000	0.31718|0.31718	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	broad.mit.edu	37	4	151412118	151412118	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151412118G>A	ENST00000357115.3	-	42	6676	c.6433C>T	c.(6433-6435)Cgt>Tgt	p.R2145C	LRBA_ENST00000510413.1_Missense_Mutation_p.R2134C|LRBA_ENST00000535741.1_Missense_Mutation_p.R2134C|LRBA_ENST00000507224.1_Missense_Mutation_p.R2134C|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2145						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R2145C(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAAAGATAACGACGAGAAAAG	0.383																																					p.R2145C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6433T	4						.						114.0	107.0	109.0					4																	151412118		2203	4300	6503	151631568	SO:0001583	missense	987	exon42			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6433C>T	4.37:g.151412118G>A	ENSP00000349629:p.Arg2145Cys		151631568	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.341469	0.95783	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64803	0.23;0.39;0.24;-0.12	5.26	5.26	0.73747	PH-BEACH domain (1);	0.138546	0.48767	D	0.000174	D	0.83234	0.5210	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86281	0.1667	10	0.87932	D	0	.	19.2364	0.93862	0.0:0.0:1.0:0.0	.	2145;2134;35	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	C	2134;2134;2145;2134	ENSP00000446299:R2134C;ENSP00000421552:R2134C;ENSP00000349629:R2145C;ENSP00000422180:R2134C	ENSP00000349629:R2145C	R	-	1	0	LRBA	151631568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.626000	0.88956	0.650000	0.86243	CGT		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	broad.mit.edu	37	4	151773402	151773402	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151773402A>C	ENST00000357115.3	-	23	3703	c.3460T>G	c.(3460-3462)Tta>Gta	p.L1154V	LRBA_ENST00000510413.1_Missense_Mutation_p.L1154V|LRBA_ENST00000535741.1_Missense_Mutation_p.L1154V|LRBA_ENST00000507224.1_Missense_Mutation_p.L1154V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1154						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1154V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAATATTAATTTGTCATCA	0.393																																					p.L1154V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3460G	4						.						76.0	77.0	77.0					4																	151773402		2203	4300	6503	151992852	SO:0001583	missense	987	exon23			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3460T>G	4.37:g.151773402A>C	ENSP00000349629:p.Leu1154Val		151992852	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	0.579	-0.837944	0.02692	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.53640	1.02;1.18;1.02;0.61	5.67	-5.67	0.02444	.	1.374990	0.04653	N	0.407495	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.08911	-1.0699	10	0.29301	T	0.29	.	1.462	0.02398	0.2658:0.3499:0.1949:0.1894	.	1154;1154	P50851;P50851-2	LRBA_HUMAN;.	V	1154	ENSP00000446299:L1154V;ENSP00000421552:L1154V;ENSP00000349629:L1154V;ENSP00000422180:L1154V	ENSP00000349629:L1154V	L	-	1	2	LRBA	151992852	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.363000	0.07593	-0.664000	0.05324	-0.256000	0.11100	TTA		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
LRBA	987	broad.mit.edu	37	4	151774094	151774094	+	Splice_Site	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151774094A>G	ENST00000357115.3	-	23	3011	c.2768T>C	c.(2767-2769)gTc>gCc	p.V923A	LRBA_ENST00000510413.1_Splice_Site_p.V923A|LRBA_ENST00000535741.1_Splice_Site_p.V923A|LRBA_ENST00000507224.1_Splice_Site_p.V923A	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	923						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V923A(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCAAAAGTGACCTAGGTGAA	0.284																																					p.V923A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2768C	4						.						78.0	77.0	77.0					4																	151774094		2203	4300	6503	151993544	SO:0001630	splice_region_variant	987	exon23			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2767-1T>C	4.37:g.151774094A>G			151993544	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441833	0.83993	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.82024	0.4947	M	0.78801	2.425	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.77557	0.989;0.99	D	0.83985	0.0334	10	0.62326	D	0.03	.	16.1611	0.81712	1.0:0.0:0.0:0.0	.	923;923	P50851;P50851-2	LRBA_HUMAN;.	A	923	ENSP00000446299:V923A;ENSP00000421552:V923A;ENSP00000349629:V923A;ENSP00000422180:V923A	ENSP00000349629:V923A	V	-	2	0	LRBA	151993544	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.417000	0.90247	2.272000	0.75746	0.460000	0.39030	GTC		0.284	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Missense_Mutation
LRBA	987	broad.mit.edu	37	4	151829982	151829982	+	Missense_Mutation	SNP	C	C	T	rs558200018		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:151829982C>T	ENST00000357115.3	-	10	1432	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N	LRBA_ENST00000510413.1_Missense_Mutation_p.D397N|LRBA_ENST00000535741.1_Missense_Mutation_p.D397N|LRBA_ENST00000507224.1_Missense_Mutation_p.D397N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	397						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D397N(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGAAAAGGTCGCTTTCTGCT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19336	0.0		0.0	False		,,,				2504	0.0				p.D397N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1189A	4						.						86.0	79.0	82.0					4																	151829982		2203	4300	6503	152049432	SO:0001583	missense	987	exon10			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1189G>A	4.37:g.151829982C>T	ENSP00000349629:p.Asp397Asn		152049432	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691821	0.88735	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.99;0.996;0.998	T	0.82676	-0.0339	10	0.46703	T	0.11	.	19.2723	0.94015	0.0:1.0:0.0:0.0	.	397;397;397	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	N	397	ENSP00000446299:D397N;ENSP00000421552:D397N;ENSP00000349629:D397N;ENSP00000422180:D397N	ENSP00000349629:D397N	D	-	1	0	LRBA	152049432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.622000	0.88805	0.563000	0.77884	GAC		0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
PRSS48	345062	broad.mit.edu	37	4	152200977	152200977	+	Missense_Mutation	SNP	G	G	A	rs370098536		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:152200977G>A	ENST00000455694.2	+	2	84	c.82G>A	c.(82-84)Gtt>Att	p.V28I	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	28	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V28I(2)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCCAGCCGCGTTGTAGGTGG	0.532																																					p.V28I												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G82A	4						.	G	ILE/VAL	0,4032		0,0,2016	105.0	104.0	104.0		82	-2.1	0.0	4		104	1,8369		0,1,4184	no	missense	PRSS48	NM_183375.2	29	0,1,6200	AA,AG,GG		0.0119,0.0,0.0081	benign	28/329	152200977	1,12401	2016	4185	6201	152420427	SO:0001583	missense	345062	exon2			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.82G>A	4.37:g.152200977G>A	ENSP00000401328:p.Val28Ile		152420427	NM_183375	Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	g	0.748	-0.773731	0.02951	0.0	1.19E-4	ENSG00000189099	ENST00000455694	T	0.20881	2.04	4.86	-2.09	0.07232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.943137	0.08605	N	0.920931	T	0.04452	0.0122	N	0.00436	-1.5	0.20307	N	0.999916	B	0.02656	0.0	B	0.06405	0.002	T	0.41538	-0.9503	10	0.02654	T	1	.	10.2864	0.43570	0.7199:0.0:0.2801:0.0	.	28	Q7RTY5	PRS48_HUMAN	I	28	ENSP00000401328:V28I	ENSP00000401328:V28I	V	+	1	0	PRSS48	152420427	0.182000	0.23173	0.000000	0.03702	0.006000	0.05464	0.822000	0.27352	-0.387000	0.07809	-0.247000	0.11927	GTT		0.532	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
FBXL5	26234	broad.mit.edu	37	4	15638155	15638155	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:15638155G>A	ENST00000341285.3	-	5	852	c.728C>T	c.(727-729)tCg>tTg	p.S243L	FBXL5_ENST00000382358.4_Missense_Mutation_p.S117L|FBXL5_ENST00000412094.2_Missense_Mutation_p.S226L	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	243	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.S243L(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						tttccaaagCGATCCCGTTTT	0.363																																					p.S243L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C728T	4						.						101.0	85.0	91.0					4																	15638155		2203	4300	6503	15247253	SO:0001583	missense	26234	exon5			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.728C>T	4.37:g.15638155G>A	ENSP00000344866:p.Ser243Leu		15247253	NM_012161	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.417908	0.83449	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.40476	1.03;1.03;1.03	5.44	5.44	0.79542	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.43757	1.38	0.80722	D	1	P;D	0.53462	0.951;0.96	B;P	0.44394	0.32;0.448	T	0.35798	-0.9774	10	0.72032	D	0.01	-9.9537	13.8728	0.63629	0.0735:0.0:0.9265:0.0	.	226;243	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	L	243;226;117	ENSP00000344866:S243L;ENSP00000408679:S226L;ENSP00000371795:S117L	ENSP00000344866:S243L	S	-	2	0	FBXL5	15247253	1.000000	0.71417	0.978000	0.43139	0.939000	0.58152	4.935000	0.63498	2.701000	0.92244	0.591000	0.81541	TCG		0.363	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
PRSS48	345062	broad.mit.edu	37	4	152203499	152203499	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:152203499A>G	ENST00000455694.2	+	3	417	c.415A>G	c.(415-417)Aca>Gca	p.T139A	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T139A(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GCCCAGTGTCACAAAGCAGTT	0.483																																					p.T139A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A415G	4						.						172.0	163.0	166.0					4																	152203499		2020	4181	6201	152422949	SO:0001583	missense	345062	exon3			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.415A>G	4.37:g.152203499A>G	ENSP00000401328:p.Thr139Ala		152422949	NM_183375	Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	A	0.056	-1.235653	0.01505	.	.	ENSG00000189099	ENST00000455694	D	0.88124	-2.34	3.87	-0.719	0.11201	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.751015	0.10934	N	0.618084	T	0.65698	0.2716	N	0.05306	-0.075	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.53180	-0.8475	10	0.08381	T	0.77	.	3.6416	0.08169	0.4579:0.0:0.1134:0.4286	.	139	Q7RTY5	PRS48_HUMAN	A	139	ENSP00000401328:T139A	ENSP00000401328:T139A	T	+	1	0	PRSS48	152422949	0.000000	0.05858	0.046000	0.18839	0.005000	0.04900	-0.093000	0.11111	-0.096000	0.12329	-0.468000	0.05107	ACA		0.483	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
GATB	5188	broad.mit.edu	37	4	152681964	152681964	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:152681964C>A	ENST00000515812.1	-	1	187	c.171G>T	c.(169-171)agG>agT	p.R57S	PET112_ENST00000508611.1_Missense_Mutation_p.R57S|PET112_ENST00000512306.1_Missense_Mutation_p.R57S|PET112_ENST00000263985.6_Missense_Mutation_p.R57S														p.R57S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						AATACCCTTTCCTCGTCTTCT	0.547																																					p.R57S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	4						.						62.0	59.0	60.0					4																	152681964		2203	4300	6503	152901414	SO:0001583	missense	5188	exon1																														ENST00000515812.1:c.171G>T	4.37:g.152681964C>A	ENSP00000426859:p.Arg57Ser		152901414	NM_004564		Missense_Mutation	SNP	ENST00000515812.1	37		.	.	.	.	.	.	.	.	.	.	C	11.41	1.629988	0.28978	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.46063	0.96;0.94;0.96;0.88	4.84	3.1	0.35709	.	0.442616	0.23852	N	0.043936	T	0.25382	0.0617	L	0.29908	0.895	0.27687	N	0.946234	B;B	0.22800	0.075;0.02	B;B	0.19946	0.027;0.027	T	0.19192	-1.0313	10	0.12103	T	0.63	-20.5352	7.479	0.27393	0.0:0.804:0.0:0.196	.	57;57	D6RDU9;O75879	.;GATB_HUMAN	S	57	ENSP00000263985:R57S;ENSP00000426859:R57S;ENSP00000420831:R57S;ENSP00000421105:R57S	ENSP00000263985:R57S	R	-	3	2	PET112	152901414	0.999000	0.42202	0.989000	0.46669	0.860000	0.49131	0.813000	0.27225	0.746000	0.32786	0.650000	0.86243	AGG		0.547	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R578X			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,endometrium,NS,Substitution - Nonsense,0	.	6	Substitution - Nonsense(5)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C1732T	4						.						167.0	164.0	165.0					4																	153244185		2203	4300	6503	153463635	SO:0001587	stop_gained	55294	exon11			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*		153463635	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	broad.mit.edu	37	4	153268093	153268093	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153268093T>G	ENST00000281708.4	-	4	1944	c.715A>C	c.(715-717)Aaa>Caa	p.K239Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.K121Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.K159Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.K239Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.K239Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.K63Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	239					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.K239Q(2)|p.K159Q(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAAACATTTTTAGCCATTCC	0.433			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.K159Q			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	4	Substitution - Missense(3)|Unknown(1)	large_intestine(3)|haematopoietic_and_lymphoid_tissue(1)	c.A475C	4						.						177.0	168.0	171.0					4																	153268093		2203	4300	6503	153487543	SO:0001583	missense	55294	exon3			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.715A>C	4.37:g.153268093T>G	ENSP00000281708:p.Lys239Gln		153487543	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550746	0.27739	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.55760	0.56;0.54;0.5;0.68	5.83	5.83	0.93111	.	0.057185	0.64402	D	0.000001	T	0.30572	0.0769	N	0.02802	-0.49	0.47123	D	0.999324	B;B;B;B	0.20988	0.01;0.05;0.004;0.009	B;B;B;B	0.15052	0.003;0.008;0.004;0.012	T	0.13469	-1.0508	10	0.30854	T	0.27	-24.7273	16.194	0.82011	0.0:0.0:0.0:1.0	.	63;239;121;159	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	239;121;159;63	ENSP00000281708:K239Q;ENSP00000296555:K121Q;ENSP00000263981:K159Q;ENSP00000377528:K63Q	ENSP00000263981:K159Q	K	-	1	0	FBXW7	153487543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.144000	0.71762	2.225000	0.72522	0.460000	0.39030	AAA		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	broad.mit.edu	37	4	153271242	153271242	+	Missense_Mutation	SNP	C	C	T	rs201753217		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153271242C>T	ENST00000281708.4	-	3	1765	c.536G>A	c.(535-537)cGc>cAc	p.R179H	FBXW7_ENST00000296555.5_Missense_Mutation_p.R61H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R99H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R179H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R179H|FBXW7_ENST00000393956.3_5'Flank	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	179					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R179H(2)|p.R99H(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGAAAAAGAGCGGACCTCAGA	0.308			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R99H			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G296A	4						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4388		0,0,2194	28.0	29.0	29.0		182,296,536	5.3	1.0	4		29	1,8567		0,1,4283	yes	missense,missense,missense	FBXW7	NM_001013415.1,NM_018315.4,NM_033632.2	29,29,29	0,1,6477	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	61/590,99/628,179/708	153271242	1,12955	2194	4284	6478	153490692	SO:0001583	missense	55294	exon2			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.536G>A	4.37:g.153271242C>T	ENSP00000281708:p.Arg179His		153490692	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891650	0.91889	0.0	1.17E-4	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	T;T;T	0.58506	0.51;0.38;0.33	6.17	5.32	0.75619	.	0.114219	0.64402	D	0.000008	T	0.52901	0.1763	N	0.19112	0.55	0.80722	D	1	D;D;D	0.67145	0.996;0.986;0.994	P;B;P	0.49502	0.613;0.376;0.579	T	0.56842	-0.7912	10	0.46703	T	0.11	-12.0329	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	179;61;99	Q969H0;Q969H0-4;Q969H0-2	FBXW7_HUMAN;.;.	H	179;61;99	ENSP00000281708:R179H;ENSP00000296555:R61H;ENSP00000263981:R99H	ENSP00000263981:R99H	R	-	2	0	FBXW7	153490692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	1.586000	0.49944	0.655000	0.94253	CGC		0.308	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	broad.mit.edu	37	4	153273871	153273871	+	Intron	SNP	C	C	T	rs34496200	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153273871C>T	ENST00000281708.4	-	3	1731				FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000263981.5_Silent_p.P4P|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.P4P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AACCGCTTCTCGGGACACACA	0.473			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								C|||	2	0.000399361	0.0008	0.0	5008	,	,		21950	0.0		0.001	False		,,,				2504	0.0				p.P4P			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	4						.	C	,,	3,4403	6.2+/-15.9	0,3,2200	66.0	64.0	65.0		,12,	5.2	1.0	4	dbSNP_126	65	2,8598	2.2+/-6.3	0,2,4298	no	intron,coding-synonymous,intron	FBXW7	NM_001013415.1,NM_018315.4,NM_033632.2	,,	0,5,6498	TT,TC,CC		0.0233,0.0681,0.0384	,,	,4/628,	153273871	5,13001	2203	4300	6503	153493321	SO:0001627	intron_variant	55294	exon1			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-2595G>A	4.37:g.153273871C>T			153493321	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Intron	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
TIGD4	201798	broad.mit.edu	37	4	153691012	153691012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153691012G>T	ENST00000304337.2	-	2	1965	c.1145C>A	c.(1144-1146)tCt>tAt	p.S382Y		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	382						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S382Y(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCCCTTTTGAGATTTGAATCC	0.423																																					p.S382Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1145A	4						.						143.0	139.0	140.0					4																	153691012		2203	4300	6503	153910462	SO:0001583	missense	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1145C>A	4.37:g.153691012G>T	ENSP00000355162:p.Ser382Tyr		153910462	NM_145720	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887692	0.02511	.	.	ENSG00000169989	ENST00000304337	T	0.15017	2.46	6.17	4.45	0.53987	.	0.631403	0.14281	N	0.329537	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	B	0.31730	0.337	B	0.24541	0.054	T	0.32561	-0.9902	10	0.02654	T	1	-4.8081	4.1994	0.10458	0.1384:0.1375:0.5982:0.1258	.	382	Q8IY51	TIGD4_HUMAN	Y	382	ENSP00000355162:S382Y	ENSP00000355162:S382Y	S	-	2	0	TIGD4	153910462	0.940000	0.31905	0.044000	0.18714	0.249000	0.25844	1.415000	0.34748	0.916000	0.36871	-0.150000	0.13652	TCT		0.423	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
TIGD4	201798	broad.mit.edu	37	4	153691871	153691871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153691871G>A	ENST00000304337.2	-	2	1106	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	96	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R96*(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TGAGCAATTCGATACCATCTC	0.378																																					p.R96X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C286T	4						.						118.0	111.0	114.0					4																	153691871		2203	4299	6502	153911321	SO:0001587	stop_gained	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.286C>T	4.37:g.153691871G>A	ENSP00000355162:p.Arg96*		153911321	NM_145720	Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	42	9.611387	0.99219	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.17	6.17	0.99709	.	0.000000	0.41097	D	0.000960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-10.391	10.8184	0.46591	0.0:0.2341:0.6361:0.1297	.	.	.	.	X	96	.	ENSP00000355162:R96X	R	-	1	2	TIGD4	153911321	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.927000	0.40094	2.941000	0.99782	0.655000	0.94253	CGA		0.378	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
TIGD4	201798	broad.mit.edu	37	4	153692075	153692075	+	Missense_Mutation	SNP	C	C	T	rs200034910		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153692075C>T	ENST00000304337.2	-	2	902	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	28	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D28N(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TTTATGATGTCGATCTTTTCC	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19171	0.0		0.001	False		,,,				2504	0.0				p.D28N												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G82A	4						.	C	ASN/ASP	0,4406		0,0,2203	133.0	129.0	130.0		82	6.2	1.0	4		130	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TIGD4	NM_145720.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	28/513	153692075	1,13005	2203	4300	6503	153911525	SO:0001583	missense	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.82G>A	4.37:g.153692075C>T	ENSP00000355162:p.Asp28Asn		153911525	NM_145720	Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.71	3.877671	0.72294	0.0	1.16E-4	ENSG00000169989	ENST00000304337	T	0.45276	0.9	6.17	6.17	0.99709	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.53938	D	0.000044	T	0.50051	0.1593	N	0.17082	0.46	0.39152	D	0.962238	D	0.89917	1.0	D	0.68943	0.961	T	0.43988	-0.9357	10	0.29301	T	0.29	-19.6278	20.4898	0.99202	0.0:1.0:0.0:0.0	.	28	Q8IY51	TIGD4_HUMAN	N	28	ENSP00000355162:D28N	ENSP00000355162:D28N	D	-	1	0	TIGD4	153911525	0.999000	0.42202	0.995000	0.50966	0.986000	0.74619	5.145000	0.64839	2.941000	0.99782	0.655000	0.94253	GAC		0.378	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
FHDC1	85462	broad.mit.edu	37	4	153864540	153864540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153864540C>T	ENST00000511601.1	+	2	519	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FHDC1_ENST00000260008.3_Nonsense_Mutation_p.R111*			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	111	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.R111*(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGCAAGTTCGAGGCAAAAC	0.488																																					p.R111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C331T	4						.						124.0	139.0	134.0					4																	153864540		2203	4300	6503	154083990	SO:0001587	stop_gained	85462	exon1			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.331C>T	4.37:g.153864540C>T	ENSP00000427567:p.Arg111*		154083990	NM_033393		Nonsense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	37	6.526670	0.97637	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	.	.	.	5.32	5.32	0.75619	.	0.056623	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	14.2393	0.65948	0.1491:0.8509:0.0:0.0	.	.	.	.	X	111	.	ENSP00000260008:R111X	R	+	1	2	FHDC1	154083990	0.999000	0.42202	0.808000	0.32385	0.987000	0.75469	3.906000	0.56340	2.656000	0.90262	0.563000	0.77884	CGA		0.488	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FHDC1	85462	broad.mit.edu	37	4	153893632	153893632	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:153893632A>C	ENST00000511601.1	+	11	1510	c.1322A>C	c.(1321-1323)aAa>aCa	p.K441T	FHDC1_ENST00000260008.3_Missense_Mutation_p.K441T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	441	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.K441T(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAACCATGAAACTGGATGAA	0.408																																					p.K441T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1322C	4						.						103.0	106.0	105.0					4																	153893632		2203	4300	6503	154113082	SO:0001583	missense	85462	exon10			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1322A>C	4.37:g.153893632A>C	ENSP00000427567:p.Lys441Thr		154113082	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220153	0.79464	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.62364	0.03;0.03	5.36	4.14	0.48551	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.201858	0.51477	N	0.000094	T	0.72930	0.3522	M	0.78344	2.41	0.53688	D	0.999979	D	0.53462	0.96	P	0.55260	0.772	T	0.74529	-0.3635	10	0.52906	T	0.07	.	12.2711	0.54706	0.8578:0.1422:0.0:0.0	.	441	Q9C0D6	FHDC1_HUMAN	T	441	ENSP00000427567:K441T;ENSP00000260008:K441T	ENSP00000260008:K441T	K	+	2	0	FHDC1	154113082	1.000000	0.71417	0.811000	0.32455	0.992000	0.81027	7.099000	0.76981	0.842000	0.35045	0.528000	0.53228	AAA		0.408	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
CD38	952	broad.mit.edu	37	4	15839779	15839779	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:15839779A>G	ENST00000226279.3	+	5	787	c.650A>G	c.(649-651)gAc>gGc	p.D217G		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	217					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.D217G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AAAATCTTTGACAAAAACAGG	0.363																																					p.D217G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A650G	4						.						137.0	127.0	131.0					4																	15839779		2203	4300	6503	15448877	SO:0001583	missense	952	exon5			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.650A>G	4.37:g.15839779A>G	ENSP00000226279:p.Asp217Gly		15448877	NM_001775	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	A	5.415	0.261738	0.10239	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.44482	0.92;0.92	5.62	-0.967	0.10316	NAD(P)-binding domain (1);	1.130300	0.06280	N	0.697225	T	0.37073	0.0990	L	0.60455	1.87	0.09310	N	1	B	0.21905	0.062	B	0.23419	0.046	T	0.35425	-0.9789	10	0.13108	T	0.6	-3.0384	9.4587	0.38772	0.5347:0.0:0.4653:0.0	.	217	P28907	CD38_HUMAN	G	217;105	ENSP00000226279:D217G;ENSP00000423047:D105G	ENSP00000226279:D217G	D	+	2	0	CD38	15448877	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.096000	0.11059	-0.063000	0.13065	0.459000	0.35465	GAC		0.363	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
CD38	952	broad.mit.edu	37	4	15850222	15850222	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:15850222C>A	ENST00000226279.3	+	8	1037	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	300					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.I300I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CATCTGAGATCTGAGCCAGTC	0.433																																					p.I300I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C900A	4						.						152.0	122.0	132.0					4																	15850222		2203	4300	6503	15459320	SO:0001819	synonymous_variant	952	exon8			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.900C>A	4.37:g.15850222C>A			15459320	NM_001775	O00121|O00122|Q96HY4	Silent	SNP	ENST00000226279.3	37	CCDS3417.1																																																																																				0.433	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
TRIM2	23321	broad.mit.edu	37	4	154216766	154216766	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154216766G>A	ENST00000437508.2	+	6	1208	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	TRIM2_ENST00000338700.5_Missense_Mutation_p.R363Q|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	336					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R336Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GAGGGGCTGCGGCAGACCATC	0.612																																					p.R363Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088A	4						.						47.0	44.0	45.0					4																	154216766		2203	4300	6503	154436216	SO:0001583	missense	23321	exon6			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1007G>A	4.37:g.154216766G>A	ENSP00000415812:p.Arg336Gln		154436216	NM_015271	D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642121	0.87859	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.84516	-1.86;-1.86	5.38	5.38	0.77491	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.138014	0.64402	D	0.000010	D	0.89660	0.6779	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	D	0.88400	0.3014	10	0.40728	T	0.16	-8.5711	13.7736	0.63039	0.074:0.0:0.926:0.0	.	363;336	D3DP09;Q9C040	.;TRIM2_HUMAN	Q	336;363	ENSP00000415812:R336Q;ENSP00000339659:R363Q	ENSP00000339659:R363Q	R	+	2	0	TRIM2	154436216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.343000	0.72986	2.676000	0.91093	0.561000	0.74099	CGG		0.612	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1		
KIAA0922	23240	broad.mit.edu	37	4	154515006	154515006	+	Missense_Mutation	SNP	G	G	A	rs370464671		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154515006G>A	ENST00000409663.3	+	19	2027	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E660K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E576K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	659						integral component of membrane (GO:0016021)		p.E512K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGCTCACCGAAGCTTGCCC	0.393																																					p.E659K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1975A	4						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	94.0	86.0	89.0		1978,1975	-4.9	0.5	4		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	660/1611,659/1610	154515006	1,13005	2203	4300	6503	154734456	SO:0001583	missense	23240	exon19			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1975G>A	4.37:g.154515006G>A	ENSP00000386574:p.Glu659Lys		154734456	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.508704	0.00984	0.0	1.16E-4	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16897	2.49;2.31;2.49;2.31	5.36	-4.88	0.03113	.	0.473316	0.25866	N	0.027786	T	0.04092	0.0114	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.12013	0.002;0.005;0.003	B;B;B	0.06405	0.001;0.002;0.001	T	0.39623	-0.9605	10	0.10636	T	0.68	-1.8891	6.2675	0.20936	0.3439:0.2548:0.4013:0.0	.	576;660;659	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	659;576;660;437	ENSP00000386574:E659K;ENSP00000409663:E576K;ENSP00000386787:E660K;ENSP00000240487:E437K	ENSP00000240487:E437K	E	+	1	0	KIAA0922	154734456	0.268000	0.24133	0.472000	0.27241	0.589000	0.36550	-0.041000	0.12084	-0.494000	0.06669	-0.300000	0.09419	GAA		0.393	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154523429	154523429	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154523429G>A	ENST00000409663.3	+	22	2441	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E798K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E714K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	797						integral component of membrane (GO:0016021)		p.E650K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TTATGGATTCGAGGTGCTGGA	0.393																																					p.E797K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2389A	4						.						180.0	176.0	178.0					4																	154523429		2203	4300	6503	154742879	SO:0001583	missense	23240	exon22			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2389G>A	4.37:g.154523429G>A	ENSP00000386574:p.Glu797Lys		154742879	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129480	0.56721	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16196	2.64;2.36;2.64;2.36	5.7	4.83	0.62350	.	0.048483	0.85682	D	0.000000	T	0.20981	0.0505	N	0.20807	0.61	0.80722	D	1	D;D;P	0.76494	0.999;0.996;0.76	P;D;B	0.62955	0.866;0.909;0.106	T	0.01762	-1.1279	10	0.02654	T	1	-18.5362	16.324	0.82965	0.0:0.1325:0.8675:0.0	.	714;798;797	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	797;714;798;575	ENSP00000386574:E797K;ENSP00000409663:E714K;ENSP00000386787:E798K;ENSP00000240487:E575K	ENSP00000240487:E575K	E	+	1	0	KIAA0922	154742879	1.000000	0.71417	0.966000	0.40874	0.507000	0.33981	4.460000	0.60108	1.333000	0.45449	0.655000	0.94253	GAG		0.393	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154533546	154533546	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154533546C>T	ENST00000409663.3	+	26	3610	c.3558C>T	c.(3556-3558)ttC>ttT	p.F1186F	KIAA0922_ENST00000409959.3_Silent_p.F1187F|KIAA0922_ENST00000440693.1_Silent_p.F1103F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1186						integral component of membrane (GO:0016021)		p.F1039F(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACATACCTTTCGTAGAGGTCT	0.323																																					p.F1186F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3558T	4						.						56.0	58.0	57.0					4																	154533546		2203	4299	6502	154752996	SO:0001819	synonymous_variant	23240	exon26			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3558C>T	4.37:g.154533546C>T			154752996	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																				0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154555410	154555410	+	Silent	SNP	C	C	T	rs375228294		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154555410C>T	ENST00000409663.3	+	33	4444	c.4392C>T	c.(4390-4392)aaC>aaT	p.N1464N	KIAA0922_ENST00000409959.3_Silent_p.N1465N|KIAA0922_ENST00000440693.1_Silent_p.N1381N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1464						integral component of membrane (GO:0016021)		p.N1317N(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGGAATTGAACGATTACAATG	0.423																																					p.N1464N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4392T	4						.	C	,	1,4405	2.1+/-5.4	0,1,2202	163.0	160.0	161.0		4395,4392	1.6	1.0	4		161	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIAA0922	NM_001131007.1,NM_015196.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1465/1611,1464/1610	154555410	1,13005	2203	4300	6503	154774860	SO:0001819	synonymous_variant	23240	exon33			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4392C>T	4.37:g.154555410C>T			154774860	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																				0.423	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154557676	154557676	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154557676G>A	ENST00000409663.3	+	35	4830	c.4778G>A	c.(4777-4779)aGg>aAg	p.R1593K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1594K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1510K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1593						integral component of membrane (GO:0016021)		p.R1446K(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACAGCGAATAGGAATGCAAAT	0.433																																					p.R1593K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4778A	4						.						98.0	94.0	95.0					4																	154557676		2203	4300	6503	154777126	SO:0001583	missense	23240	exon35			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4778G>A	4.37:g.154557676G>A	ENSP00000386574:p.Arg1593Lys		154777126	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184097	0.78677	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.48522	1.11;0.81;1.1;0.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;P	0.81914	0.99;0.995;0.907	T	0.62191	-0.6906	10	0.87932	D	0	-16.9387	20.3311	0.98718	0.0:0.0:1.0:0.0	.	1510;1594;1593	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	1593;1510;1594;1371	ENSP00000386574:R1593K;ENSP00000409663:R1510K;ENSP00000386787:R1594K;ENSP00000240487:R1371K	ENSP00000240487:R1371K	R	+	2	0	KIAA0922	154777126	1.000000	0.71417	0.147000	0.22382	0.295000	0.27426	9.113000	0.94321	2.797000	0.96272	0.655000	0.94253	AGG		0.433	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
TLR2	7097	broad.mit.edu	37	4	154624906	154624906	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154624906G>T	ENST00000260010.6	+	1	2255	c.847G>T	c.(847-849)Gag>Tag	p.E283*		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	283					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.E283*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GTTAGAATTAGAGTTTGATGA	0.323																																					p.E283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G847T	4						.						51.0	55.0	53.0					4																	154624906		2202	4299	6501	154844356	SO:0001587	stop_gained	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.847G>T	4.37:g.154624906G>T	ENSP00000260010:p.Glu283*		154844356	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Nonsense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	47	13.794305	0.99763	.	.	ENSG00000137462	ENST00000260010	.	.	.	5.91	5.06	0.68205	.	0.718192	0.13418	N	0.389377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.6792	0.45804	0.1416:0.0:0.8584:0.0	.	.	.	.	X	283	.	ENSP00000260010:E283X	E	+	1	0	TLR2	154844356	0.497000	0.26067	0.966000	0.40874	0.334000	0.28698	2.004000	0.40854	2.802000	0.96397	0.655000	0.94253	GAG		0.323	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
TLR2	7097	broad.mit.edu	37	4	154625309	154625309	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154625309A>G	ENST00000260010.6	+	1	2658	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	417					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.N417S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AACTTGACTAACATTGATATC	0.368																																					p.N417S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1250G	4						.						51.0	53.0	52.0					4																	154625309		2203	4300	6503	154844759	SO:0001583	missense	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1250A>G	4.37:g.154625309A>G	ENSP00000260010:p.Asn417Ser		154844759	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	0.784	-0.761279	0.02996	.	.	ENSG00000137462	ENST00000260010	T	0.55052	0.54	5.42	-3.06	0.05379	.	0.797878	0.11531	N	0.554652	T	0.30008	0.0751	L	0.33624	1.015	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.18871	-1.0323	10	0.19147	T	0.46	.	1.5716	0.02616	0.4118:0.2207:0.2541:0.1134	.	417	O60603	TLR2_HUMAN	S	417	ENSP00000260010:N417S	ENSP00000260010:N417S	N	+	2	0	TLR2	154844759	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.125000	0.15749	-0.782000	0.04541	0.460000	0.39030	AAC		0.368	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
TLR2	7097	broad.mit.edu	37	4	154626141	154626141	+	Missense_Mutation	SNP	A	A	C	rs374310145		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154626141A>C	ENST00000260010.6	+	1	3490	c.2082A>C	c.(2080-2082)gaA>gaC	p.E694D		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	694	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.E694D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	ACTCCATTGAAAAGAGCCACA	0.428																																					p.E694D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2082C	4						.	A	ASP/GLU	0,4406		0,0,2203	114.0	113.0	113.0		2082	-8.7	0.8	4		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLR2	NM_003264.3	45	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	probably-damaging	694/785	154626141	1,13005	2203	4300	6503	154845591	SO:0001583	missense	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2082A>C	4.37:g.154626141A>C	ENSP00000260010:p.Glu694Asp		154845591	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783285	0.49891	0.0	1.16E-4	ENSG00000137462	ENST00000260010	T	0.09350	2.99	5.83	-8.71	0.00848	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.055632	0.64402	D	0.000001	T	0.13457	0.0326	M	0.62266	1.93	0.43959	D	0.996639	B	0.32653	0.379	B	0.40038	0.317	T	0.15578	-1.0432	10	0.66056	D	0.02	.	17.1019	0.86652	0.2081:0.0969:0.695:0.0	.	694	O60603	TLR2_HUMAN	D	694	ENSP00000260010:E694D	ENSP00000260010:E694D	E	+	3	2	TLR2	154845591	0.665000	0.27466	0.840000	0.33206	0.984000	0.73092	-0.257000	0.08745	-1.194000	0.02684	-0.250000	0.11733	GAA		0.428	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
RNF175	285533	broad.mit.edu	37	4	154636703	154636703	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154636703A>C	ENST00000347063.4	-	7	1114	c.742T>G	c.(742-744)Tac>Gac	p.Y248D	RNF175_ENST00000274068.4_Missense_Mutation_p.Y120D	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	248						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Y248D(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GAAAGCTGGTAGGTGTTTTCA	0.478																																					p.Y248D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T742G	4						.						82.0	80.0	81.0					4																	154636703		1970	4152	6122	154856153	SO:0001583	missense	285533	exon7			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.742T>G	4.37:g.154636703A>C	ENSP00000340979:p.Tyr248Asp		154856153	NM_173662	C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538540	0.45176	.	.	ENSG00000145428	ENST00000347063;ENST00000274068	T;T	0.43294	0.95;2.1	4.35	4.35	0.52113	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.075521	0.53938	D	0.000044	T	0.58438	0.2122	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;P	0.76575	0.988;0.904	T	0.61912	-0.6965	10	0.87932	D	0	-16.9698	12.1458	0.54022	1.0:0.0:0.0:0.0	.	120;248	Q8NB61;Q8N4F7	.;RN175_HUMAN	D	248;120	ENSP00000340979:Y248D;ENSP00000274068:Y120D	ENSP00000274068:Y120D	Y	-	1	0	RNF175	154856153	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.202000	0.72131	2.179000	0.69175	0.482000	0.46254	TAC		0.478	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662	
SFRP2	6423	broad.mit.edu	37	4	154709889	154709889	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:154709889G>T	ENST00000274063.4	-	1	383	c.99C>A	c.(97-99)ttC>ttA	p.F33L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	33					bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F33L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GCTTGTAGGAGAAGTCGGGCT	0.657																																					p.F33L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C99A	4						.						33.0	38.0	36.0					4																	154709889		2202	4297	6499	154929339	SO:0001583	missense	6423	exon1			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.99C>A	4.37:g.154709889G>T	ENSP00000274063:p.Phe33Leu		154929339	NM_003013	B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	G	5.916	0.352988	0.11182	.	.	ENSG00000145423	ENST00000274063	T	0.71934	-0.61	4.48	2.73	0.32206	.	0.059813	0.64402	D	0.000001	T	0.44705	0.1306	N	0.12746	0.255	0.35109	D	0.766004	B	0.11235	0.004	B	0.12837	0.008	T	0.32508	-0.9904	10	0.11182	T	0.66	.	5.9374	0.19173	0.1597:0.0:0.6867:0.1536	.	33	Q96HF1	SFRP2_HUMAN	L	33	ENSP00000274063:F33L	ENSP00000274063:F33L	F	-	3	2	SFRP2	154929339	1.000000	0.71417	0.988000	0.46212	0.842000	0.47809	0.534000	0.23098	0.442000	0.26555	-0.158000	0.13435	TTC		0.657	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1		
DCHS2	54798	broad.mit.edu	37	4	155156092	155156092	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155156092G>T	ENST00000357232.4	-	25	8346	c.8347C>A	c.(8347-8349)Ctt>Att	p.L2783I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2783I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCAACTAAGAAGATAATTC	0.393																																					p.L2783I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8347A	4						.						116.0	115.0	116.0					4																	155156092		2203	4300	6503	155375542	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8347C>A	4.37:g.155156092G>T	ENSP00000349768:p.Leu2783Ile		155375542	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040053	0.75732	.	.	ENSG00000197410	ENST00000357232	T	0.79749	-1.3	5.94	5.1	0.69264	.	0.000000	0.64402	D	0.000006	T	0.80670	0.4667	M	0.81942	2.565	0.80722	D	1	P	0.43287	0.802	B	0.36922	0.236	T	0.82625	-0.0365	10	0.51188	T	0.08	.	15.1152	0.72394	0.0677:0.0:0.9323:0.0	.	2783	Q6V1P9	PCD23_HUMAN	I	2783	ENSP00000349768:L2783I	ENSP00000349768:L2783I	L	-	1	0	DCHS2	155375542	1.000000	0.71417	0.634000	0.29324	0.945000	0.59286	4.777000	0.62361	1.521000	0.48983	0.557000	0.71058	CTT		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155156457	155156457	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155156457C>A	ENST00000357232.4	-	25	7981	c.7982G>T	c.(7981-7983)aGa>aTa	p.R2661I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2661					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2661I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGCACTTTCTGTAGGGATG	0.517																																					p.R2661I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7982T	4						.						96.0	90.0	92.0					4																	155156457		2203	4300	6503	155375907	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7982G>T	4.37:g.155156457C>A	ENSP00000349768:p.Arg2661Ile		155375907	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.048949	0.55110	.	.	ENSG00000197410	ENST00000357232	T	0.55760	0.5	5.54	4.69	0.59074	.	0.073895	0.53938	D	0.000048	T	0.67316	0.2880	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.64595	0.927	T	0.64824	-0.6316	10	0.20046	T	0.44	.	16.2814	0.82692	0.0:0.8672:0.1328:0.0	.	2661	Q6V1P9	PCD23_HUMAN	I	2661	ENSP00000349768:R2661I	ENSP00000349768:R2661I	R	-	2	0	DCHS2	155375907	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	3.874000	0.56101	1.301000	0.44836	0.460000	0.39030	AGA		0.517	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155156682	155156682	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155156682C>A	ENST00000357232.4	-	25	7756	c.7757G>T	c.(7756-7758)aGa>aTa	p.R2586I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2586					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R2586I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCGGGTCACTCTCAAGTCCGC	0.428																																					p.R2586I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G7757T	4						.						116.0	121.0	119.0					4																	155156682		2203	4299	6502	155376132	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7757G>T	4.37:g.155156682C>A	ENSP00000349768:p.Arg2586Ile		155376132	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	6.078	0.382646	0.11524	.	.	ENSG00000197410	ENST00000357232	T	0.54866	0.55	5.82	2.18	0.27775	.	0.455403	0.22763	N	0.055927	T	0.40909	0.1136	L	0.51422	1.61	0.39629	D	0.970159	B	0.14012	0.009	B	0.11329	0.006	T	0.31052	-0.9957	10	0.54805	T	0.06	.	3.9192	0.09236	0.1581:0.422:0.0:0.4199	.	2586	Q6V1P9	PCD23_HUMAN	I	2586	ENSP00000349768:R2586I	ENSP00000349768:R2586I	R	-	2	0	DCHS2	155376132	0.000000	0.05858	0.011000	0.14972	0.002000	0.02628	0.194000	0.17135	0.370000	0.24538	-0.444000	0.05651	AGA		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155219387	155219387	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155219387A>G	ENST00000357232.4	-	18	4713	c.4714T>C	c.(4714-4716)Tat>Cat	p.Y1572H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1572	Cadherin 13. {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.Y1572H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCAGTGACATATACTTTTATA	0.448																																					p.Y1572H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4714C	4						.						100.0	100.0	100.0					4																	155219387		2203	4300	6503	155438837	SO:0001583	missense	54798	exon18			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4714T>C	4.37:g.155219387A>G	ENSP00000349768:p.Tyr1572His		155438837	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.702804	0.00719	.	.	ENSG00000197410	ENST00000357232	T	0.50548	0.74	5.66	-4.99	0.03010	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.682020	0.02938	N	0.140159	T	0.19525	0.0469	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08932	-1.0698	10	0.14252	T	0.57	.	2.8186	0.05465	0.1644:0.1918:0.4443:0.1996	.	1572	Q6V1P9	PCD23_HUMAN	H	1572	ENSP00000349768:Y1572H	ENSP00000349768:Y1572H	Y	-	1	0	DCHS2	155438837	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	0.818000	0.27295	-0.659000	0.05359	-0.417000	0.06048	TAT		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155219828	155219828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155219828C>A	ENST00000357232.4	-	18	4272	c.4273G>T	c.(4273-4275)Gag>Tag	p.E1425*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1425	Cadherin 12. {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.E1425*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTGACATCTCATTTATAGTA	0.393																																					p.E1425X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4273T	4						.						69.0	72.0	71.0					4																	155219828		2203	4300	6503	155439278	SO:0001587	stop_gained	54798	exon18			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4273G>T	4.37:g.155219828C>A	ENSP00000349768:p.Glu1425*		155439278	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	42	9.370901	0.99151	.	.	ENSG00000197410	ENST00000357232	.	.	.	5.86	4.01	0.46588	.	0.578909	0.17885	N	0.158706	.	.	.	.	.	.	0.29930	N	0.821981	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	5.6118	0.17410	0.0:0.6116:0.1522:0.2362	.	.	.	.	X	1425	.	ENSP00000349768:E1425X	E	-	1	0	DCHS2	155439278	0.030000	0.19436	0.113000	0.21522	0.800000	0.45204	0.531000	0.23052	1.594000	0.50039	0.650000	0.86243	GAG		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155278421	155278421	+	Missense_Mutation	SNP	C	C	A	rs149265546	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155278421C>A	ENST00000357232.4	-	6	749	c.750G>T	c.(748-750)aaG>aaT	p.K250N	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	250	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.K250K(1)|p.K250N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcattacttccttgtctgctg	0.438																																					p.K250N												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G750T	4						.						135.0	140.0	139.0					4																	155278421		2203	4300	6503	155497871	SO:0001583	missense	54798	exon6			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.750G>T	4.37:g.155278421C>A	ENSP00000349768:p.Lys250Asn		155497871	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.438612	0.01098	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	0.772	-0.409	0.12378	Cadherin (1);	.	.	.	.	T	0.25344	0.0616	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14531	-1.0469	9	0.26408	T	0.33	.	3.3522	0.07156	0.0:0.6434:0.0:0.3566	.	250	Q6V1P9	PCD23_HUMAN	N	250	ENSP00000349768:K250N	ENSP00000349768:K250N	K	-	3	2	DCHS2	155497871	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	-0.368000	0.07543	-0.217000	0.10033	-0.450000	0.05554	AAG		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
PLRG1	5356	broad.mit.edu	37	4	155457840	155457840	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155457840A>C	ENST00000499023.2	-	15	1668	c.1542T>G	c.(1540-1542)ttT>ttG	p.F514L	PLRG1_ENST00000302078.5_Missense_Mutation_p.F505L|PLRG1_ENST00000393905.2_Missense_Mutation_p.F514L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	514					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.F514L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				ACATTCATTAAAATCTCTTTC	0.299																																					p.F514L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1542G	4						.						43.0	46.0	45.0					4																	155457840		2197	4278	6475	155677290	SO:0001583	missense	5356	exon15			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1542T>G	4.37:g.155457840A>C	ENSP00000424417:p.Phe514Leu		155677290	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	CCDS34083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.96|16.96	3.265243|3.265243	0.59431|0.59431	.|.	.|.	ENSG00000171566|ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078|ENST00000503251	T;T;T|T	0.65549|0.79352	-0.16;-0.16;-0.15|-1.26	5.4|5.4	4.2|4.2	0.49525|0.49525	.|.	0.045973|.	0.85682|.	D|.	0.000000|.	D|D	0.84433|0.84433	0.5471|0.5471	M|M	0.81239|0.81239	2.535|2.535	0.58432|0.58432	D|D	0.999991|0.999991	B;B|.	0.30686|.	0.29;0.275|.	B;B|.	0.32342|.	0.107;0.144|.	T|T	0.83180|0.83180	-0.0089|-0.0089	10|7	0.72032|0.38643	D|T	0.01|0.18	.|.	12.5742|12.5742	0.56355|0.56355	0.8611:0.1389:0.0:0.0|0.8611:0.1389:0.0:0.0	.|.	505;514|.	O43660-2;O43660|.	.;PLRG1_HUMAN|.	L|V	514;514;505|93	ENSP00000424417:F514L;ENSP00000377483:F514L;ENSP00000303191:F505L|ENSP00000426497:L93V	ENSP00000303191:F505L|ENSP00000426497:L93V	F|L	-|-	3|1	2|2	PLRG1|PLRG1	155677290|155677290	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.990000|0.990000	0.78478|0.78478	2.586000|2.586000	0.46119|0.46119	0.869000|0.869000	0.35703|0.35703	0.482000|0.482000	0.46254|0.46254	TTT|TTA		0.299	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
PLRG1	5356	broad.mit.edu	37	4	155459228	155459228	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155459228A>G	ENST00000499023.2	-	13	1310	c.1184T>C	c.(1183-1185)aTa>aCa	p.I395T	PLRG1_ENST00000302078.5_Missense_Mutation_p.I386T|PLRG1_ENST00000393905.2_Missense_Mutation_p.I395T	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	395					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.I395T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACTGCTTTATGTTATCTGG	0.318																																					p.I395T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1184C	4						.						37.0	39.0	38.0					4																	155459228		2203	4294	6497	155678678	SO:0001583	missense	5356	exon13			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1184T>C	4.37:g.155459228A>G	ENSP00000424417:p.Ile395Thr		155678678	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.133851	0.56828	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000503251;ENST00000302078	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81866	0.4913	M	0.91196	3.185	0.80722	D	1	D;P	0.57257	0.979;0.831	P;P	0.54140	0.743;0.724	D	0.86269	0.1660	10	0.66056	D	0.02	-24.4029	15.9707	0.80013	1.0:0.0:0.0:0.0	.	386;395	O43660-2;O43660	.;PLRG1_HUMAN	T	395;395;38;386	ENSP00000424417:I395T;ENSP00000377483:I395T;ENSP00000426497:I38T;ENSP00000303191:I386T	ENSP00000303191:I386T	I	-	2	0	PLRG1	155678678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.105000	0.94246	2.165000	0.68154	0.477000	0.44152	ATA		0.318	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
PLRG1	5356	broad.mit.edu	37	4	155461948	155461948	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155461948C>T	ENST00000499023.2	-	9	952	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PLRG1_ENST00000302078.5_Missense_Mutation_p.E267K|PLRG1_ENST00000393905.2_Missense_Mutation_p.E276K	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	276					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.E276K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTATTGTATTCGAGATCCCAG	0.378																																					p.E276K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826A	4						.						108.0	111.0	110.0					4																	155461948		2203	4300	6503	155681398	SO:0001583	missense	5356	exon9			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.826G>A	4.37:g.155461948C>T	ENSP00000424417:p.Glu276Lys		155681398	NM_002669	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.563191	0.96527	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	D;D;D	0.81821	-1.54;-1.54;-1.54	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87569	0.6210	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	D	0.86518	0.1814	10	0.49607	T	0.09	-31.8565	20.1141	0.97919	0.0:1.0:0.0:0.0	.	267;276	O43660-2;O43660	.;PLRG1_HUMAN	K	276;276;267	ENSP00000424417:E276K;ENSP00000377483:E276K;ENSP00000303191:E267K	ENSP00000303191:E267K	E	-	1	0	PLRG1	155681398	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	7.629000	0.83207	2.757000	0.94681	0.591000	0.81541	GAA		0.378	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
FGB	2244	broad.mit.edu	37	4	155488849	155488849	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155488849C>T	ENST00000302068.4	+	4	658	c.595C>T	c.(595-597)Cgt>Tgt	p.R199C	FGB_ENST00000509493.1_5'UTR|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	199					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.R199C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCGTGTGCTTCGTTCAATCCT	0.393																																					p.R199C	NSCLC(106;1133 1613 21870 46110 52656)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595T	4						.						118.0	113.0	115.0					4																	155488849		2203	4300	6503	155708299	SO:0001583	missense	2244	exon4				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.595C>T	4.37:g.155488849C>T	ENSP00000306099:p.Arg199Cys		155708299	NM_005141	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069115	0.93950	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.83419	-1.72	5.77	5.77	0.91146	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.147452	0.64402	D	0.000004	D	0.91496	0.7315	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	D	0.91427	0.5163	10	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	182;199	B4E1D3;P02675	.;FIBB_HUMAN	C	199;182	ENSP00000306099:R199C	ENSP00000306099:R199C	R	+	1	0	FGB	155708299	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.133000	0.57983	2.884000	0.98904	0.655000	0.94253	CGT		0.393	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
FGA	2243	broad.mit.edu	37	4	155507125	155507125	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155507125C>T	ENST00000302053.3	-	5	1534	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	FGA_ENST00000403106.3_Missense_Mutation_p.E486K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	486					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.E486K(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAACCATCTTCGGAGGTCACC	0.493																																					p.E486K	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	4	GRCh37	CM015840	FGA	M		.						148.0	144.0	145.0					4																	155507125		2203	4300	6503	155726575	SO:0001583	missense	2243	exon5				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1456G>A	4.37:g.155507125C>T	ENSP00000306361:p.Glu486Lys		155726575	NM_021871	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479430	0.26511	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.60548	0.18;0.18	5.99	4.09	0.47781	Fibrinogen alpha C domain (1);	13.202500	0.00166	N	0.000000	T	0.49525	0.1562	L	0.52759	1.655	0.09310	N	1	B;B	0.31817	0.341;0.066	B;B	0.22386	0.039;0.017	T	0.37865	-0.9687	10	0.33940	T	0.23	.	3.394	0.07299	0.1391:0.5806:0.1211:0.1592	.	486;486	P02671-2;P02671	.;FIBA_HUMAN	K	486	ENSP00000306361:E486K;ENSP00000385981:E486K	ENSP00000306361:E486K	E	-	1	0	FGA	155726575	0.254000	0.23992	0.110000	0.21437	0.297000	0.27493	0.576000	0.23744	1.377000	0.46286	0.655000	0.94253	GAA		0.493	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
RBM46	166863	broad.mit.edu	37	4	155719083	155719083	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155719083G>A	ENST00000281722.3	+	3	507	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	RBM46_ENST00000514866.1_Missense_Mutation_p.R91Q|RBM46_ENST00000510397.1_Missense_Mutation_p.R91Q	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	91	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R91Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATGAATTTCGACTTATGATG	0.343																																					p.R91Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	4						.						117.0	122.0	120.0					4																	155719083		2203	4300	6503	155938533	SO:0001583	missense	166863	exon3			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.272G>A	4.37:g.155719083G>A	ENSP00000281722:p.Arg91Gln		155938533	NM_144979	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800038	0.90538	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.76575	0.971;0.988;0.968	T	0.14090	-1.0485	10	0.87932	D	0	-8.6364	20.2723	0.98479	0.0:0.0:1.0:0.0	.	91;91;91	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	Q	91	ENSP00000424500:R91Q;ENSP00000281722:R91Q;ENSP00000422813:R91Q;ENSP00000426672:R91Q	ENSP00000281722:R91Q	R	+	2	0	RBM46	155938533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.659000	0.98597	2.793000	0.96121	0.563000	0.77884	CGA		0.343	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
PROM1	8842	broad.mit.edu	37	4	16010622	16010622	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:16010622T>G	ENST00000510224.1	-	12	1499	c.1251A>C	c.(1249-1251)gaA>gaC	p.E417D	RNU6-350P_ENST00000515949.1_RNA|PROM1_ENST00000539194.1_Missense_Mutation_p.E417D|PROM1_ENST00000447510.2_Missense_Mutation_p.E417D|PROM1_ENST00000540805.1_Missense_Mutation_p.E417D|PROM1_ENST00000508167.1_Missense_Mutation_p.E408D|PROM1_ENST00000543373.1_Missense_Mutation_p.E408D|PROM1_ENST00000505450.1_Missense_Mutation_p.E408D			O43490	PROM1_HUMAN	prominin 1	417					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)	p.E416D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GGATGTAACTTTCAGTGTTAT	0.393																																					p.E417D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1251C	4						.						83.0	79.0	80.0					4																	16010622		1865	4103	5968	15619720	SO:0001583	missense	8842	exon11			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1251A>C	4.37:g.16010622T>G	ENSP00000426809:p.Glu417Asp		15619720	NM_001145849	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311352	0.60414	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.52	-1.75	0.08031	.	0.414820	0.28914	N	0.013732	T	0.41673	0.1169	M	0.70275	2.135	0.09310	N	1	P;P;P;P;P;P	0.51537	0.881;0.881;0.881;0.881;0.946;0.902	P;P;P;P;P;P	0.50537	0.614;0.614;0.511;0.614;0.592;0.643	T	0.45512	-0.9256	10	0.15952	T	0.53	-10.2098	7.6122	0.28137	0.0:0.6065:0.1691:0.2244	.	408;417;408;417;408;417	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	D	417;417;417;408;408;417;408	ENSP00000415481:E417D;ENSP00000438045:E417D;ENSP00000443620:E417D;ENSP00000426090:E408D;ENSP00000427346:E408D;ENSP00000426809:E417D;ENSP00000445526:E408D	ENSP00000415481:E417D	E	-	3	2	PROM1	15619720	0.094000	0.21725	0.001000	0.08648	0.028000	0.11728	0.186000	0.16978	-0.255000	0.09486	-0.256000	0.11100	GAA		0.393	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	
RBM46	166863	broad.mit.edu	37	4	155720128	155720128	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:155720128G>T	ENST00000281722.3	+	4	1049	c.814G>T	c.(814-816)Gat>Tat	p.D272Y	RBM46_ENST00000514866.1_Missense_Mutation_p.D272Y|RBM46_ENST00000510397.1_Missense_Mutation_p.D272Y	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	272	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D272Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAACTTAGAGATTATGCTTT	0.353																																					p.D272Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814T	4						.						102.0	93.0	96.0					4																	155720128		2203	4300	6503	155939578	SO:0001583	missense	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.814G>T	4.37:g.155720128G>T	ENSP00000281722:p.Asp272Tyr		155939578	NM_144979	B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814413	0.70912	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.81330	-1.48;-1.48;-1.48	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.92948	0.7756	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.80764	0.992;0.994;0.99	D	0.93621	0.6948	10	0.87932	D	0	-33.853	20.6439	0.99570	0.0:0.0:1.0:0.0	.	272;272;272	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	Y	272	ENSP00000424500:D272Y;ENSP00000281722:D272Y;ENSP00000422813:D272Y	ENSP00000281722:D272Y	D	+	1	0	RBM46	155939578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.271000	0.78506	2.884000	0.98904	0.655000	0.94253	GAT		0.353	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
NPY2R	4887	broad.mit.edu	37	4	156136030	156136030	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156136030C>T	ENST00000329476.3	+	2	1428	c.939C>T	c.(937-939)atC>atT	p.I313I	NPY2R_ENST00000506608.1_Silent_p.I313I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	313					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.I313I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TCCACATCATCGCCATGTGCT	0.542																																					p.I313I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	4						.						124.0	98.0	107.0					4																	156136030		2203	4300	6503	156355480	SO:0001819	synonymous_variant	4887	exon2			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.939C>T	4.37:g.156136030C>T			156355480	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	CCDS3791.1																																																																																				0.542	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
GUCY1A3	2982	broad.mit.edu	37	4	156618204	156618204	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156618204G>T	ENST00000296518.7	+	3	394	c.185G>T	c.(184-186)aGa>aTa	p.R62I	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R62I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R62I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R62I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R62I|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R62I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	62					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.R62I(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTCCTCAAAGAAAAACCAGT	0.453																																					p.R62I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185T	4						.						97.0	100.0	99.0					4																	156618204		2203	4300	6503	156837654	SO:0001583	missense	2982	exon3				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.185G>T	4.37:g.156618204G>T	ENSP00000296518:p.Arg62Ile		156837654	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663470	0.88251	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.2;-2.39;-2.39;-2.39	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.93197	0.7833	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	P;P;P	0.61800	0.894;0.894;0.894	D	0.92371	0.5905	10	0.51188	T	0.08	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	62;62;62	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	I	62	ENSP00000424361:R62I;ENSP00000421493:R62I;ENSP00000426968:R62I;ENSP00000412201:R62I;ENSP00000296518:R62I;ENSP00000426040:R62I	ENSP00000296518:R62I	R	+	2	0	GUCY1A3	156837654	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	6.525000	0.73795	2.818000	0.97014	0.591000	0.81541	AGA		0.453	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156632169	156632169	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156632169G>T	ENST00000296518.7	+	6	1061	c.852G>T	c.(850-852)aaG>aaT	p.K284N	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.K284N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.K284N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.K284N|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.K26N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.K284N|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.K284N			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	284					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.K284N(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TATTCTGCAAGACATTTCCAT	0.463																																					p.K284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	4						.						95.0	89.0	91.0					4																	156632169		2203	4300	6503	156851619	SO:0001583	missense	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.852G>T	4.37:g.156632169G>T	ENSP00000296518:p.Lys284Asn		156851619	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882619	0.72410	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.76	4.91	0.64330	Haem NO binding associated (1);	0.000000	0.64402	D	0.000002	D	0.88055	0.6334	L	0.33792	1.035	0.46376	D	0.999011	P;P;P	0.43662	0.814;0.814;0.814	P;P;P	0.53146	0.698;0.698;0.719	D	0.86456	0.1776	10	0.35671	T	0.21	.	11.5476	0.50702	0.1391:0.0:0.8609:0.0	.	284;284;284	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	N	284;284;284;284;26;284;284	ENSP00000424361:K284N;ENSP00000421493:K284N;ENSP00000426968:K284N;ENSP00000412201:K284N;ENSP00000377418:K26N;ENSP00000296518:K284N;ENSP00000426040:K284N	ENSP00000296518:K284N	K	+	3	2	GUCY1A3	156851619	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.566000	0.45948	1.542000	0.49330	0.643000	0.83706	AAG		0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156632281	156632281	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156632281G>T	ENST00000296518.7	+	6	1173	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.E64*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.E322*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.E322*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	322				Missing (in Ref. 1; CAA47145). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.E322*(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAATTTTGAAGAATACTTTGA	0.388																																					p.E322X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G964T	4						.						67.0	70.0	69.0					4																	156632281		2203	4300	6503	156851731	SO:0001587	stop_gained	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.964G>T	4.37:g.156632281G>T	ENSP00000296518:p.Glu322*		156851731	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	41	8.546869	0.98857	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.3219	0.98684	0.0:0.0:1.0:0.0	.	.	.	.	X	322;322;322;322;64;322;322	.	ENSP00000296518:E322X	E	+	1	0	GUCY1A3	156851731	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.122000	0.94380	2.876000	0.98609	0.643000	0.83706	GAA		0.388	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156634379	156634379	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156634379C>T	ENST00000296518.7	+	7	1425	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.H406Y|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.H406Y|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.H406Y|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.H148Y|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.H406Y|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.H406Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	406					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.H406Y(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CATCCCAATTCACAATGCACT	0.498																																					p.H406Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1216T	4						.						93.0	90.0	91.0					4																	156634379		2203	4300	6503	156853829	SO:0001583	missense	2982	exon7				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1216C>T	4.37:g.156634379C>T	ENSP00000296518:p.His406Tyr		156853829	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486357	0.84854	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.64402	D	0.000003	D	0.97084	0.9047	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96949	0.9693	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	406;406	B3KU69;Q02108	.;GCYA3_HUMAN	Y	406;406;406;406;148;406;406	ENSP00000424361:H406Y;ENSP00000421493:H406Y;ENSP00000426968:H406Y;ENSP00000412201:H406Y;ENSP00000377418:H148Y;ENSP00000296518:H406Y;ENSP00000426040:H406Y	ENSP00000296518:H406Y	H	+	1	0	GUCY1A3	156853829	1.000000	0.71417	0.997000	0.53966	0.742000	0.42306	7.461000	0.80834	2.861000	0.98227	0.655000	0.94253	CAC		0.498	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1B3	2983	broad.mit.edu	37	4	156715085	156715085	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156715085T>G	ENST00000264424.8	+	6	655	c.573T>G	c.(571-573)ttT>ttG	p.F191L	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F123L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F191L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F171L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F123L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F123L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F213L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	191					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.F191L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGGATTTTTATGAAGATC	0.338																																					p.F191L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T573G	4						.						60.0	60.0	60.0					4																	156715085		1832	4078	5910	156934535	SO:0001583	missense	2983	exon6			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.573T>G	4.37:g.156715085T>G	ENSP00000264424:p.Phe191Leu		156934535	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	T	9.603	1.129221	0.21041	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;T;D;T;D	0.81996	-1.56;-1.56;-1.56;-1.16;-1.56;-1.05;-1.56	6.03	0.607	0.17564	.	0.102254	0.64402	N	0.000002	T	0.56572	0.1994	N	0.04508	-0.205	0.36002	D	0.837454	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.0;0.0;0.004;0.0	T	0.47129	-0.9141	10	0.07990	T	0.79	.	7.1215	0.25448	0.0:0.2553:0.1114:0.6333	.	171;213;123;191;191	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	L	123;213;171;123;191;191;123	ENSP00000427226:F123L;ENSP00000426786:F213L;ENSP00000426319:F171L;ENSP00000422313:F123L;ENSP00000264424:F191L;ENSP00000420842:F191L;ENSP00000425065:F123L	ENSP00000264424:F191L	F	+	3	2	GUCY1B3	156934535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.615000	0.24329	0.142000	0.18901	0.533000	0.62120	TTT		0.338	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ASIC5	51802	broad.mit.edu	37	4	156757870	156757870	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156757870C>A	ENST00000537611.2	-	8	1252	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	402					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.K402N(1)									GATTCAACTTCTTGGAAAGAT	0.323																																					p.K402N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1206T	4						.						68.0	74.0	72.0					4																	156757870		2200	4300	6500	156977320	SO:0001583	missense	51802	exon8			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1206G>T	4.37:g.156757870C>A	ENSP00000442477:p.Lys402Asn		156977320	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	7.114	0.576526	0.13686	.	.	ENSG00000256394	ENST00000537611	T	0.66280	-0.2	4.8	3.07	0.35406	.	0.442496	0.21075	N	0.080584	T	0.48352	0.1495	L	0.56199	1.76	0.34935	D	0.7497	B	0.21821	0.061	B	0.25759	0.063	T	0.43097	-0.9412	10	0.17369	T	0.5	-16.0004	1.7614	0.02992	0.1637:0.4729:0.1592:0.2041	.	402	Q9NY37	ACCN5_HUMAN	N	402	ENSP00000442477:K402N	ENSP00000264432:K402N	K	-	3	2	ACCN5	156977320	0.004000	0.15560	1.000000	0.80357	0.631000	0.37964	-0.458000	0.06737	0.720000	0.32209	-0.122000	0.15005	AAG		0.323	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
ASIC5	51802	broad.mit.edu	37	4	156784872	156784872	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156784872C>A	ENST00000537611.2	-	2	121	c.75G>T	c.(73-75)aaG>aaT	p.K25N	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	25					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.K25N(1)									GCAGTGGTTTCTTTGAAAGGC	0.383																																					p.K25N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	4						.						95.0	96.0	96.0					4																	156784872		2203	4300	6503	157004322	SO:0001583	missense	51802	exon2			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.75G>T	4.37:g.156784872C>A	ENSP00000442477:p.Lys25Asn		157004322	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	8.271	0.813325	0.16537	.	.	ENSG00000256394	ENST00000537611	T	0.69040	-0.37	4.34	3.49	0.39957	.	0.252624	0.26086	N	0.026425	T	0.62539	0.2436	M	0.72479	2.2	0.42564	D	0.993155	P	0.35656	0.514	B	0.38428	0.273	T	0.58148	-0.7687	10	0.25106	T	0.35	-1.0202	7.9459	0.29987	0.0:0.7418:0.0:0.2582	.	25	Q9NY37	ACCN5_HUMAN	N	25	ENSP00000442477:K25N	ENSP00000264432:K25N	K	-	3	2	ACCN5	157004322	0.997000	0.39634	0.081000	0.20488	0.109000	0.19521	1.663000	0.37429	1.139000	0.42245	0.650000	0.86243	AAG		0.383	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
TDO2	6999	broad.mit.edu	37	4	156825237	156825237	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156825237G>A	ENST00000536354.2	+	2	167	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.A35T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TGTGAATAGAGCCAGCAAAGG	0.418																																					p.A35T	Colon(57;928 1036 2595 6946 26094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103A	4						.						89.0	88.0	88.0					4																	156825237		2203	4300	6503	157044687	SO:0001583	missense	6999	exon2				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.103G>A	4.37:g.156825237G>A	ENSP00000444788:p.Ala35Thr		157044687	NM_005651		Missense_Mutation	SNP	ENST00000536354.2	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002142	0.93227	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73830	0.3637	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.66384	-0.5937	9	0.16420	T	0.52	-14.2751	19.5862	0.95490	0.0:0.0:1.0:0.0	.	35	P48775	T23O_HUMAN	T	35	.	ENSP00000281525:A35T	A	+	1	0	TDO2	157044687	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.170000	0.94795	2.641000	0.89580	0.650000	0.86243	GCC		0.418	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651	
TDO2	6999	broad.mit.edu	37	4	156831237	156831237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156831237G>T	ENST00000536354.2	+	6	556	c.492G>T	c.(490-492)aaG>aaT	p.K164N		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase									p.K164N(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TAGAAAACAAGATAGGTGTTC	0.398																																					p.K164N	Colon(57;928 1036 2595 6946 26094)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	4						.						95.0	99.0	98.0					4																	156831237		2203	4300	6503	157050687	SO:0001583	missense	6999	exon6				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.492G>T	4.37:g.156831237G>T	ENSP00000444788:p.Lys164Asn		157050687	NM_005651		Missense_Mutation	SNP	ENST00000536354.2	37	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634704	0.47049	.	.	ENSG00000151790	ENST00000506072;ENST00000536354	.	.	.	5.15	2.31	0.28768	.	0.087834	0.85682	D	0.000000	T	0.67429	0.2892	M	0.89287	3.02	0.58432	D	0.999997	B	0.29590	0.25	B	0.36567	0.228	T	0.67647	-0.5617	9	0.66056	D	0.02	-17.5733	8.0099	0.30347	0.3328:0.0:0.6672:0.0	.	164	P48775	T23O_HUMAN	N	57;164	.	ENSP00000281525:K164N	K	+	3	2	TDO2	157050687	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.352000	0.34033	0.609000	0.30018	-0.387000	0.06579	AAG		0.398	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651	
CTSO	1519	broad.mit.edu	37	4	156850694	156850694	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156850694C>T	ENST00000433477.3	-	6	907	c.838G>A	c.(838-840)Gga>Aga	p.G280R		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	287					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.G280R(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)		CAGCACTTACCTGTTTTATCA	0.418																																					p.G280R	Pancreas(148;2303 2598 8989 35298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	4						.						119.0	103.0	109.0					4																	156850694		2203	4300	6503	157070144	SO:0001630	splice_region_variant	1519	exon6			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.838+1G>A	4.37:g.156850694C>T			157070144	NM_001334	Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989908	0.93106	.	.	ENSG00000256043	ENST00000433477	T	0.32023	1.47	5.53	5.53	0.82687	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	L	0.45698	1.435	0.80722	D	1	D	0.57257	0.979	D	0.69654	0.965	T	0.29088	-1.0023	9	.	.	.	.	19.4522	0.94872	0.0:1.0:0.0:0.0	.	280	P43234	CATO_HUMAN	R	280	ENSP00000414904:G280R	.	G	-	1	0	CTSO	157070144	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.092000	0.76930	2.598000	0.87819	0.655000	0.94253	GGA		0.418	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334	Missense_Mutation
CTSO	1519	broad.mit.edu	37	4	156864397	156864397	+	Missense_Mutation	SNP	C	C	T	rs376990374		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:156864397C>T	ENST00000433477.3	-	2	224	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		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.R52Q(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)		ATTCAAGTATCGATGTCTATT	0.323																																					p.R52Q	Pancreas(148;2303 2598 8989 35298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	4						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	85.0	82.0		155	-1.7	0.9	4		82	0,8592		0,0,4296	no	missense	CTSO	NM_001334.2	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	52/322	156864397	1,12997	2203	4296	6499	157083847	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.155G>A	4.37:g.156864397C>T	ENSP00000414904:p.Arg52Gln		157083847	NM_001334	Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438362	0.25900	2.27E-4	0.0	ENSG00000256043	ENST00000433477	T	0.28666	1.6	5.69	-1.68	0.08212	.	0.962280	0.08602	N	0.921346	T	0.17450	0.0419	N	0.25485	0.75	0.09310	N	1	B	0.28783	0.222	B	0.21708	0.036	T	0.25082	-1.0142	10	0.30854	T	0.27	.	6.6818	0.23125	0.1162:0.3968:0.0:0.487	.	52	P43234	CATO_HUMAN	Q	52	ENSP00000414904:R52Q	ENSP00000281527:R52Q	R	-	2	0	CTSO	157083847	0.000000	0.05858	0.948000	0.38648	0.381000	0.30169	-0.571000	0.05889	-0.037000	0.13646	-0.136000	0.14681	CGA		0.323	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334	
PDGFC	56034	broad.mit.edu	37	4	157693890	157693890	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:157693890C>T	ENST00000502773.1	-	4	1141	c.651G>A	c.(649-651)agG>agA	p.R217R	PDGFC_ENST00000542208.1_Silent_p.R62R|PDGFC_ENST00000422544.2_Silent_p.R217R|PDGFC_ENST00000541126.1_Silent_p.R54R|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	217					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.R217R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GCCAAGTTGGCCTATATAGAT	0.388																																					p.R217R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	4						.						67.0	65.0	66.0					4																	157693890		2203	4300	6503	157913340	SO:0001819	synonymous_variant	56034	exon4			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.651G>A	4.37:g.157693890C>T			157913340	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	CCDS3795.1																																																																																				0.388	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1		
PDGFC	56034	broad.mit.edu	37	4	157771544	157771544	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:157771544C>T	ENST00000502773.1	-	2	633	c.143G>A	c.(142-144)aGa>aAa	p.R48K	PDGFC_ENST00000542208.1_5'Flank|PDGFC_ENST00000422544.2_Missense_Mutation_p.R48K|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	48	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.R48K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AGTAATAATTCTCTCATGCTG	0.338																																					p.R48K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143A	4						.						64.0	60.0	62.0					4																	157771544		2203	4300	6503	157990994	SO:0001583	missense	56034	exon2			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.143G>A	4.37:g.157771544C>T	ENSP00000422464:p.Arg48Lys		157990994	NM_016205	B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114667	0.37339	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.14640	2.54;2.49	5.94	5.94	0.96194	CUB (2);	0.166021	0.51477	D	0.000098	T	0.04092	0.0114	N	0.00707	-1.245	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45963	-0.9225	10	0.30078	T	0.28	-19.8101	9.2423	0.37504	0.0:0.8801:0.0:0.1199	.	48	Q9NRA1	PDGFC_HUMAN	K	48	ENSP00000422464:R48K;ENSP00000410048:R48K	ENSP00000410048:R48K	R	-	2	0	PDGFC	157990994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.596000	0.67570	2.826000	0.97356	0.561000	0.74099	AGA		0.338	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1		
GRIA2	2891	broad.mit.edu	37	4	158142883	158142883	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:158142883T>G	ENST00000264426.9	+	2	432	c.153T>G	c.(151-153)ttT>ttG	p.F51L	GRIA2_ENST00000449365.1_Missense_Mutation_p.F4L|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.F51L|GRIA2_ENST00000393815.2_Missense_Mutation_p.F4L|GRIA2_ENST00000507898.1_Missense_Mutation_p.F4L	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	51					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.F51L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGTTCAGTTTTCCACTTCGG	0.468																																					p.F4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T12G	4						.						123.0	123.0	123.0					4																	158142883		2203	4300	6503	158362333	SO:0001583	missense	2891	exon2				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.153T>G	4.37:g.158142883T>G	ENSP00000264426:p.Phe51Leu		158362333	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635978	0.67130	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	T;T;T;T;T;T	0.14640	2.67;2.67;2.49;2.49;2.49;2.67	5.5	3.06	0.35304	.	0.050082	0.85682	D	0.000000	T	0.15998	0.0385	L	0.33485	1.01	0.41743	D	0.989627	B;B;B	0.23377	0.084;0.083;0.018	P;B;B	0.45099	0.469;0.342;0.005	T	0.12889	-1.0530	10	0.10902	T	0.67	.	9.0158	0.36168	0.0:0.2188:0.0:0.7812	.	51;51;4	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	L	4;4;51;51;51;4;4;4	ENSP00000426845:F4L;ENSP00000377403:F4L;ENSP00000425217:F51L;ENSP00000296526:F51L;ENSP00000264426:F51L;ENSP00000389837:F4L	ENSP00000264426:F51L	F	+	3	2	GRIA2	158362333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.559000	0.23485	0.385000	0.24970	0.454000	0.30748	TTT		0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIA2	2891	broad.mit.edu	37	4	158257022	158257022	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:158257022T>C	ENST00000264426.9	+	10	1745	c.1466T>C	c.(1465-1467)gTa>gCa	p.V489A	GRIA2_ENST00000449365.1_Missense_Mutation_p.V442A|GRIA2_ENST00000296526.7_Missense_Mutation_p.V489A|GRIA2_ENST00000393815.2_Missense_Mutation_p.V442A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V442A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	489					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.V489A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGAGAACTTGTATATGGGGTA	0.413																																					p.V442A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1325C	4						.						143.0	131.0	135.0					4																	158257022		2203	4300	6503	158476472	SO:0001583	missense	2891	exon10				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1466T>C	4.37:g.158257022T>C	ENSP00000264426:p.Val489Ala		158476472	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226678	0.79576	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.64	5.64	0.86602	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.76938	2.355	0.80722	D	1	P;D;D	0.67145	0.842;0.996;0.985	P;D;D	0.73708	0.506;0.957;0.981	D	0.89439	0.3722	10	0.87932	D	0	.	16.1617	0.81721	0.0:0.0:0.0:1.0	.	489;489;442	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	A	442;442;489;489;442	ENSP00000426845:V442A;ENSP00000377403:V442A;ENSP00000296526:V489A;ENSP00000264426:V489A;ENSP00000389837:V442A	ENSP00000264426:V489A	V	+	2	0	GRIA2	158476472	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	7.997000	0.88414	2.275000	0.75901	0.528000	0.53228	GTA		0.413	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
TMEM144	55314	broad.mit.edu	37	4	159165493	159165493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:159165493G>T	ENST00000296529.6	+	12	1466	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	316						integral component of membrane (GO:0016021)		p.E316*(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CATGTTTAAGGAAATAAAGGT	0.413																																					p.E316X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G946T	4						.						86.0	89.0	88.0					4																	159165493		2203	4300	6503	159384943	SO:0001587	stop_gained	55314	exon12			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.946G>T	4.37:g.159165493G>T	ENSP00000296529:p.Glu316*		159384943	NM_018342	D3DP24|Q49A05|Q9NUT3	Nonsense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	40	8.286186	0.98742	.	.	ENSG00000164124	ENST00000296529	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8108	17.7003	0.88292	0.0:0.0:1.0:0.0	.	.	.	.	X	316	.	ENSP00000296529:E316X	E	+	1	0	TMEM144	159384943	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.109000	0.77062	2.469000	0.83416	0.585000	0.79938	GAA		0.413	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
RXFP1	59350	broad.mit.edu	37	4	159533502	159533502	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:159533502C>A	ENST00000307765.5	+	8	919	c.668C>A	c.(667-669)tCt>tAt	p.S223Y	RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274																																					p.S223Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668A	4						.						62.0	58.0	59.0					4																	159533502		1786	4060	5846	159752952	SO:0001583	missense	59350	exon8			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.668C>A	4.37:g.159533502C>A	ENSP00000303248:p.Ser223Tyr		159752952	NM_021634	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877169	0.72180	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.85258	3.43;3.43;4.09;-1.96;3.43	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.986;1.0;0.986;0.97;0.983;0.999;1.0;1.0;1.0	D;D;D;P;P;D;D;D;D	0.97110	0.921;0.999;0.921;0.819;0.871;0.993;0.996;1.0;1.0	D	0.91426	0.5162	10	0.72032	D	0.01	.	11.5346	0.50631	0.0:0.9161:0.0:0.0839	.	234;250;142;223;190;142;93;160;223	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	Y	142;223;142;223;190;93	ENSP00000423306:S142Y;ENSP00000303248:S223Y;ENSP00000414885:S142Y;ENSP00000345889:S223Y;ENSP00000420712:S190Y	ENSP00000303248:S223Y	S	+	2	0	RXFP1	159752952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.409000	0.59768	2.624000	0.88883	0.655000	0.94253	TCT		0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
RXFP1	59350	broad.mit.edu	37	4	159549832	159549832	+	Silent	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:159549832T>A	ENST00000307765.5	+	11	1121	c.870T>A	c.(868-870)acT>acA	p.T290T	RXFP1_ENST00000470033.1_Silent_p.T257T|RXFP1_ENST00000448688.2_Silent_p.T185T|RXFP1_ENST00000460056.2_Silent_p.T209T|RXFP1_ENST00000343542.5_Silent_p.T290T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	290					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.T290T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGAAAATACTTTTGCACCTC	0.294																																					p.T290T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T870A	4						.						44.0	43.0	43.0					4																	159549832		1796	4048	5844	159769282	SO:0001819	synonymous_variant	59350	exon11			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.870T>A	4.37:g.159549832T>A			159769282	NM_021634	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	CCDS43276.1																																																																																				0.294	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
RXFP1	59350	broad.mit.edu	37	4	159568025	159568025	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:159568025G>A	ENST00000307765.5	+	16	1679	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	RXFP1_ENST00000470033.1_Silent_p.A443A|RXFP1_ENST00000448688.2_Silent_p.A371A|RXFP1_ENST00000460056.2_Silent_p.A395A|RXFP1_ENST00000343542.5_Silent_p.A428A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	476					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.A476A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATAAGCATGCGCAGCTGTGGA	0.413																																					p.A476A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1428A	4						.						135.0	126.0	129.0					4																	159568025		1911	4135	6046	159787475	SO:0001819	synonymous_variant	59350	exon16			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1428G>A	4.37:g.159568025G>A			159787475	NM_021634	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	CCDS43276.1																																																																																				0.413	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
C4orf45	152940	broad.mit.edu	37	4	159836417	159836417	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:159836417T>G	ENST00000434826.2	-	4	535	c.451A>C	c.(451-453)Aat>Cat	p.N151H	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	151								p.N151H(1)		large_intestine(2)|lung(3)	5						CATTTGGAATTTCTCTGATCA	0.453																																					p.N151H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A451C	4						.						98.0	90.0	93.0					4																	159836417		1900	4131	6031	160055867	SO:0001583	missense	152940	exon4				CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.451A>C	4.37:g.159836417T>G	ENSP00000412215:p.Asn151His		160055867	NM_152543	A8MPU3|C9J0T8	Missense_Mutation	SNP	ENST00000434826.2	37	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.237271	0.39498	.	.	ENSG00000164123	ENST00000434826	T	0.15952	2.38	5.83	1.72	0.24424	.	0.357331	0.26875	N	0.022044	T	0.14270	0.0345	L	0.59436	1.845	0.18873	N	0.999987	B	0.30281	0.275	B	0.28916	0.096	T	0.15464	-1.0436	9	.	.	.	-33.7465	5.6771	0.17755	0.0:0.1709:0.1562:0.6729	.	151	Q96LM5	CD045_HUMAN	H	151	ENSP00000412215:N151H	.	N	-	1	0	C4orf45	160055867	0.074000	0.21230	0.040000	0.18447	0.148000	0.21650	-0.394000	0.07296	0.452000	0.26830	0.533000	0.62120	AAT		0.453	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543	
RAPGEF2	9693	broad.mit.edu	37	4	160225600	160225600	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:160225600G>T	ENST00000264431.4	+	2	586	c.167G>T	c.(166-168)aGc>aTc	p.S56I	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	56					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S44I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GATTCTGGGAGCAGCAGTCTT	0.408																																					p.S56I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167T	4						.						167.0	156.0	160.0					4																	160225600		1909	4126	6035	160445050	SO:0001583	missense	9693	exon2			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.167G>T	4.37:g.160225600G>T	ENSP00000264431:p.Ser56Ile		160445050	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918149	0.92249	.	.	ENSG00000109756	ENST00000505478;ENST00000510510;ENST00000264431;ENST00000514565	T	0.50813	0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72121	-0.4386	10	0.87932	D	0	.	19.8097	0.96542	0.0:0.0:1.0:0.0	.	56	Q9Y4G8	RPGF2_HUMAN	I	212;54;56;37	ENSP00000264431:S56I	ENSP00000264431:S56I	S	+	2	0	RAPGEF2	160445050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.685000	0.91497	0.484000	0.47621	AGC		0.408	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
RAPGEF2	9693	broad.mit.edu	37	4	160251609	160251609	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:160251609A>C	ENST00000264431.4	+	7	1362	c.943A>C	c.(943-945)Aag>Cag	p.K315Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	315	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.K303Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGTGGGCAAAAAGTTATTGGA	0.363																																					p.K315Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A943C	4						.						134.0	125.0	128.0					4																	160251609		1824	4079	5903	160471059	SO:0001583	missense	9693	exon7			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.943A>C	4.37:g.160251609A>C	ENSP00000264431:p.Lys315Gln		160471059	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503700	0.64298	.	.	ENSG00000109756	ENST00000264431	T	0.54479	0.57	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.63428	1.95	0.58432	D	0.999999	B	0.32467	0.372	B	0.41894	0.369	T	0.57347	-0.7827	10	0.36615	T	0.2	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	315	Q9Y4G8	RPGF2_HUMAN	Q	315	ENSP00000264431:K315Q	ENSP00000264431:K315Q	K	+	1	0	RAPGEF2	160471059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.256000	0.78350	2.333000	0.79357	0.533000	0.62120	AAG		0.363	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
RAPGEF2	9693	broad.mit.edu	37	4	160253809	160253809	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:160253809G>A	ENST00000264431.4	+	11	2031	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	538					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.D526N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGATACTCGACAAGACTCG	0.368																																					p.D538N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1612A	4						.						92.0	83.0	86.0					4																	160253809		1902	4135	6037	160473259	SO:0001583	missense	9693	exon11			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1612G>A	4.37:g.160253809G>A	ENSP00000264431:p.Asp538Asn		160473259	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.008678|5.008678	0.93346|0.93346	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000512056	T|.	0.37915|.	1.17|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73745|0.73745	0.3626|0.3626	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.48503|.	0.911|.	B|.	0.39876|.	0.312|.	T|T	0.71580|0.71580	-0.4550|-0.4550	10|5	0.30078|.	T|.	0.28|.	.|.	19.1708|19.1708	0.93576|0.93576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	538|.	Q9Y4G8|.	RPGF2_HUMAN|.	N|Q	538|175	ENSP00000264431:D538N|.	ENSP00000264431:D538N|.	D|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160473259|160473259	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.997000|0.997000	0.91878|0.91878	7.901000|7.901000	0.87382|0.87382	2.602000|2.602000	0.87976|0.87976	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
RAPGEF2	9693	broad.mit.edu	37	4	160273927	160273927	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:160273927C>T	ENST00000264431.4	+	21	3892	c.3473C>T	c.(3472-3474)tCg>tTg	p.S1158L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1158	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.S1146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTAGCAATTCGTCTTTTGAC	0.478																																					p.S1158L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3473T	4						.						123.0	117.0	119.0					4																	160273927		1935	4134	6069	160493377	SO:0001583	missense	9693	exon21			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3473C>T	4.37:g.160273927C>T	ENSP00000264431:p.Ser1158Leu		160493377	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191721|4.191721	0.78902|0.78902	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.43294	.|0.95	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40619|0.40619	0.1124|0.1124	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B	.|0.31290	.|0.318	.|B	.|0.26969	.|0.075	T|T	0.21245|0.21245	-1.0251|-1.0251	5|10	.|0.48119	.|T	.|0.1	.|.	19.9832|19.9832	0.97338|0.97338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1158	.|Q9Y4G8	.|RPGF2_HUMAN	C|L	215|1158	.|ENSP00000264431:S1158L	.|ENSP00000264431:S1158L	R|S	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160493377|160493377	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	5.675000|5.675000	0.68123|0.68123	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.478	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
FSTL5	56884	broad.mit.edu	37	4	162307588	162307588	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:162307588G>T	ENST00000306100.5	-	16	2291	c.1855C>A	c.(1855-1857)Ctt>Att	p.L619I	FSTL5_ENST00000427802.2_Missense_Mutation_p.L609I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.L618I|FSTL5_ENST00000379164.4_Missense_Mutation_p.L618I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	619						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L619I(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTTATGAAGAATAAATCCA	0.343																																					p.L619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1855A	4						.						26.0	27.0	27.0					4																	162307588		2203	4299	6502	162527038	SO:0001583	missense	56884	exon16			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1855C>A	4.37:g.162307588G>T	ENSP00000305334:p.Leu619Ile		162527038	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396348	0.62177	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);	0.057395	0.64402	D	0.000001	T	0.36248	0.0960	L	0.60455	1.87	0.52501	D	0.999951	B;B;P	0.35612	0.451;0.452;0.512	B;B;B	0.36567	0.137;0.228;0.15	T	0.07829	-1.0752	10	0.41790	T	0.15	.	18.9897	0.92786	0.0:0.0:1.0:0.0	.	609;618;619	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	619;618;609;618	ENSP00000305334:L619I;ENSP00000368462:L618I;ENSP00000389270:L609I;ENSP00000440409:L618I	ENSP00000305334:L619I	L	-	1	0	FSTL5	162527038	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.140000	0.64807	2.732000	0.93576	0.563000	0.77884	CTT		0.343	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
FSTL5	56884	broad.mit.edu	37	4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353																																					p.W282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G846A	4						.						63.0	63.0	63.0					4																	162577528		2203	4300	6503	162796978	SO:0001587	stop_gained	56884	exon7			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.846G>A	4.37:g.162577528C>T	ENSP00000305334:p.Trp282*		162796978	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774941	0.98950	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.38	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4143	0.60959	0.0:0.9241:0.0:0.0759	.	.	.	.	X	282;281;281;281	.	ENSP00000305334:W282X	W	-	3	0	FSTL5	162796978	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.421000	0.80204	1.396000	0.46663	0.650000	0.86243	TGG		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
LDB2	9079	broad.mit.edu	37	4	16760787	16760787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:16760787G>A	ENST00000304523.5	-	2	552	c.229C>T	c.(229-231)Cga>Tga	p.R77*	LDB2_ENST00000502640.1_Nonsense_Mutation_p.R77*|LDB2_ENST00000515064.1_Nonsense_Mutation_p.R77*|LDB2_ENST00000441778.2_Nonsense_Mutation_p.R77*	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	77					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.R77*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTACTGTATCGCTTTGGTCCA	0.428																																					p.R77X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C229T	4						.						87.0	85.0	86.0					4																	16760787		2203	4300	6503	16369885	SO:0001587	stop_gained	9079	exon2			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.229C>T	4.37:g.16760787G>A	ENSP00000306772:p.Arg77*		16369885	NM_001130834	O60619|O75480	Nonsense_Mutation	SNP	ENST00000304523.5	37	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	37	6.600994	0.97697	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4041	13.7437	0.62862	0.0:0.0:0.8464:0.1536	.	.	.	.	X	77;77;77;77;53	.	ENSP00000306772:R77X	R	-	1	2	LDB2	16369885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.390000	0.52523	2.763000	0.94921	0.561000	0.74099	CGA		0.428	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2		
FSTL5	56884	broad.mit.edu	37	4	162577629	162577629	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:162577629G>A	ENST00000306100.5	-	7	1181	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	FSTL5_ENST00000427802.2_Silent_p.L248L|FSTL5_ENST00000536695.1_Silent_p.L248L|FSTL5_ENST00000379164.4_Silent_p.L248L|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	249						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.L249L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTCTGGCAGACTCAACTGG	0.398																																					p.L249L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C745T	4						.						91.0	82.0	85.0					4																	162577629		2203	4300	6503	162797079	SO:0001819	synonymous_variant	56884	exon7			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.745C>T	4.37:g.162577629G>A			162797079	NM_020116	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	CCDS3802.1																																																																																				0.398	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	
NAF1	92345	broad.mit.edu	37	4	164069568	164069568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:164069568C>A	ENST00000274054.2	-	3	752	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	NAF1_ENST00000422287.2_Nonsense_Mutation_p.E187*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	187					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E187*(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAGTGAGTTCTTCAACAGAA	0.289																																					p.E187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G559T	4						.						82.0	96.0	91.0					4																	164069568		2203	4284	6487	164289018	SO:0001587	stop_gained	92345	exon3				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.559G>T	4.37:g.164069568C>A	ENSP00000274054:p.Glu187*		164289018	NM_138386	D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	C	38	6.990347	0.97987	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	.	.	.	5.17	5.17	0.71159	.	0.220676	0.38217	N	0.001776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-18.7615	17.6713	0.88218	0.0:1.0:0.0:0.0	.	.	.	.	X	187	.	ENSP00000274054:E187X	E	-	1	0	NAF1	164289018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.373000	0.59537	2.424000	0.82194	0.453000	0.30009	GAA		0.289	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	
NPY5R	4889	broad.mit.edu	37	4	164271825	164271825	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:164271825T>A	ENST00000515560.1	+	4	1922	c.400T>A	c.(400-402)Tca>Aca	p.S134T	NPY5R_ENST00000506953.1_Missense_Mutation_p.S134T|NPY5R_ENST00000338566.3_Missense_Mutation_p.S134T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	134					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.S134T(1)|p.L130fs*9(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AATTTTAATATCAATTGCCAT	0.363																																					p.S134T	Melanoma(139;1287 1774 9781 19750 25599)											.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|breast(1)	c.T400A	4						.						194.0	195.0	194.0					4																	164271825		2203	4300	6503	164491275	SO:0001583	missense	4889	exon4			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.400T>A	4.37:g.164271825T>A	ENSP00000423917:p.Ser134Thr		164491275	NM_006174	Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650132	0.47362	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37058	1.22;1.22;1.22	5.12	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000112	T	0.32526	0.0832	L	0.46614	1.455	0.45194	D	0.998203	P	0.40083	0.702	B	0.38655	0.278	T	0.08146	-1.0736	10	0.51188	T	0.08	.	12.2055	0.54350	0.0:0.0:0.143:0.857	.	134	Q15761	NPY5R_HUMAN	T	134	ENSP00000339377:S134T;ENSP00000423917:S134T;ENSP00000423474:S134T	ENSP00000339377:S134T	S	+	1	0	NPY5R	164491275	0.999000	0.42202	0.996000	0.52242	0.996000	0.88848	3.383000	0.52471	0.859000	0.35456	0.482000	0.46254	TCA		0.363	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
TKTL2	84076	broad.mit.edu	37	4	164394338	164394338	+	Silent	SNP	G	G	A	rs531922468		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:164394338G>A	ENST00000280605.3	-	1	709	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	183						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F183F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTTCACGTCGAAGACCGCCA	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0				p.F183F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549T	4						.						67.0	69.0	68.0					4																	164394338		2203	4300	6503	164613788	SO:0001819	synonymous_variant	84076	exon1			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.549C>T	4.37:g.164394338G>A			164613788	NM_032136	A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	CCDS3805.1																																																																																				0.522	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136	
MARCH1	55016	broad.mit.edu	37	4	164450091	164450091	+	Missense_Mutation	SNP	G	G	A	rs138184332		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:164450091G>A	ENST00000503008.1	-	8	1655	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	MARCH1_ENST00000339875.5_Missense_Mutation_p.R210C|RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000514618.1_Missense_Mutation_p.R483C|MARCH1_ENST00000274056.7_Missense_Mutation_p.R227C	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	227	Responsible for down-regulation of CD86 and MHC class II cell surface expression. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R210C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAGCCTGCGCCACAACTGA	0.438																																					p.R210C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	4						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	92.0	95.0		679,628	5.6	1.0	4	dbSNP_134	95	0,8600		0,0,4300	no	missense,missense	MARCH1	NM_001166373.1,NM_017923.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	227/290,210/273	164450091	1,13005	2203	4300	6503	164669541	SO:0001583	missense	55016	exon4			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.679C>T	4.37:g.164450091G>A	ENSP00000427223:p.Arg227Cys		164669541	NM_017923	D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626599	0.87560	2.27E-4	0.0	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875	T;T;T;T	0.39056	1.55;1.55;1.1;1.17	5.58	5.58	0.84498	.	0.083825	0.46442	D	0.000298	T	0.62048	0.2396	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.70487	0.899;0.969	T	0.63752	-0.6566	10	0.87932	D	0	-13.3335	14.7338	0.69402	0.0:0.0:0.8552:0.1447	.	227;210	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	C	227;227;483;210	ENSP00000274056:R227C;ENSP00000427223:R227C;ENSP00000421322:R483C;ENSP00000345676:R210C	ENSP00000274056:R227C	R	-	1	0	MARCH1	164669541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	2.789000	0.95967	0.655000	0.94253	CGC		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
TRIM60	166655	broad.mit.edu	37	4	165962195	165962195	+	Missense_Mutation	SNP	G	G	A	rs371675727		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:165962195G>A	ENST00000512596.1	+	3	1187	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_ENST00000508504.1_Missense_Mutation_p.R324Q|TRIM60_ENST00000341062.5_Missense_Mutation_p.R324Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	324	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R324Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418																																					p.R324Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	4						.						104.0	106.0	105.0					4																	165962195		2203	4300	6503	166181645	SO:0001583	missense	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.971G>A	4.37:g.165962195G>A	ENSP00000421142:p.Arg324Gln		166181645	NM_152620	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	g	2.421	-0.333126	0.05278	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.06687	3.27;3.27;3.27	2.49	-4.98	0.03019	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.660443	0.11343	N	0.573786	T	0.01287	0.0042	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23940	-1.0174	10	0.02654	T	1	.	6.1076	0.20081	0.3102:0.3951:0.2948:0.0	.	324	Q495X7	TRI60_HUMAN	Q	324	ENSP00000421142:R324Q;ENSP00000426496:R324Q;ENSP00000343765:R324Q	ENSP00000343765:R324Q	R	+	2	0	TRIM60	166181645	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.965000	0.03829	-2.237000	0.00712	-2.294000	0.00264	CGA		0.418	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
TRIM60	166655	broad.mit.edu	37	4	165962580	165962580	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:165962580C>A	ENST00000512596.1	+	3	1572	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TRIM60_ENST00000508504.1_Missense_Mutation_p.F452L|TRIM60_ENST00000341062.5_Missense_Mutation_p.F452L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	452	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.F452L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGCCTTATTTCTATACTGGAA	0.353																																					p.F452L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1356A	4						.						54.0	58.0	57.0					4																	165962580		2201	4298	6499	166182030	SO:0001583	missense	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1356C>A	4.37:g.165962580C>A	ENSP00000421142:p.Phe452Leu		166182030	NM_152620	Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697801	0.68386	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.75938	-0.98;-0.98;-0.98	2.33	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.43416	U	0.000576	D	0.82793	0.5114	M	0.72894	2.215	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72043	-0.4409	10	0.72032	D	0.01	.	10.7484	0.46194	0.0:1.0:0.0:0.0	.	452	Q495X7	TRI60_HUMAN	L	452	ENSP00000421142:F452L;ENSP00000426496:F452L;ENSP00000343765:F452L	ENSP00000343765:F452L	F	+	3	2	TRIM60	166182030	0.724000	0.28038	0.345000	0.25642	0.821000	0.46438	0.086000	0.14935	1.598000	0.50083	0.655000	0.94253	TTC		0.353	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
KLHL2	11275	broad.mit.edu	37	4	166141201	166141201	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:166141201G>A	ENST00000226725.6	+	2	401	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	KLHL2_ENST00000514860.1_Missense_Mutation_p.E52K|KLHL2_ENST00000421009.2_5'UTR|KLHL2_ENST00000538127.1_5'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	48					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.E48K(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGTCATGAACGAATTAAGAAG	0.353																																					p.E52K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154A	4						.						33.0	32.0	33.0					4																	166141201		2201	4281	6482	166360651	SO:0001583	missense	11275	exon2			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.142G>A	4.37:g.166141201G>A	ENSP00000226725:p.Glu48Lys		166360651	NM_001161521	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653820	0.47362	.	.	ENSG00000109466	ENST00000226725;ENST00000511305;ENST00000509704;ENST00000514860	T;D;T;T	0.90788	-0.34;-2.73;-0.34;-0.34	5.53	5.53	0.82687	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	L	0.48935	1.535	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.46172	0.506;0.506	D	0.87318	0.2316	10	0.24483	T	0.36	.	19.8183	0.96579	0.0:0.0:1.0:0.0	.	52;48	B4DFH7;O95198	.;KLHL2_HUMAN	K	48;48;10;52	ENSP00000226725:E48K;ENSP00000422113:E48K;ENSP00000421324:E10K;ENSP00000424198:E52K	ENSP00000226725:E48K	E	+	1	0	KLHL2	166360651	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.246000	0.95438	2.761000	0.94854	0.650000	0.86243	GAA		0.353	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
MSMO1	6307	broad.mit.edu	37	4	166254711	166254711	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:166254711C>A	ENST00000261507.6	+	2	362	c.189C>A	c.(187-189)ttC>ttA	p.F63L	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.F63L	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	63					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)	p.F63L(1)									CCCTTTATTTCTTATTCTGTT	0.279																																					p.F63L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C189A	4						.						90.0	94.0	93.0					4																	166254711		2203	4298	6501	166474161	SO:0001583	missense	6307	exon2			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.189C>A	4.37:g.166254711C>A	ENSP00000261507:p.Phe63Leu		166474161	NM_006745	A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186492	0.38609	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317;ENST00000505270	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.58	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.90145	3.09	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.15484	0.013;0.003	T	0.57435	-0.7812	10	0.46703	T	0.11	-18.31	10.0691	0.42322	0.0:0.7285:0.0:0.2715	.	63;63	D6R952;Q15800	.;MSMO1_HUMAN	L	63	ENSP00000261507:F63L;ENSP00000425241:F63L;ENSP00000423633:F63L;ENSP00000425112:F63L	ENSP00000261507:F63L	F	+	3	2	SC4MOL	166474161	1.000000	0.71417	0.968000	0.41197	0.790000	0.44656	1.956000	0.40382	0.718000	0.32166	0.561000	0.74099	TTC		0.279	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745	
CPE	1363	broad.mit.edu	37	4	166405684	166405684	+	Missense_Mutation	SNP	C	C	T	rs138641684		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:166405684C>T	ENST00000402744.4	+	5	1181	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	301					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.R301C(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCCACCATGTCGCAAGAATGA	0.522																																					p.R301C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C901T	4						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	312.0	298.0	303.0		901	5.7	1.0	4	dbSNP_134	303	0,8600		0,0,4300	no	missense	CPE	NM_001873.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	301/477	166405684	1,13005	2203	4300	6503	166625134	SO:0001583	missense	1363	exon5			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.901C>T	4.37:g.166405684C>T	ENSP00000386104:p.Arg301Cys		166625134	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470956	0.63625	2.27E-4	0.0	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.21932	1.98	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.08743	-1.0707	10	0.48119	T	0.1	-21.6932	20.1284	0.97992	0.0:1.0:0.0:0.0	.	301	P16870	CBPE_HUMAN	C	301;265	ENSP00000386104:R301C	ENSP00000261510:R265C	R	+	1	0	CPE	166625134	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	7.228000	0.78079	2.829000	0.97493	0.650000	0.86243	CGC		0.522	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
TLL1	7092	broad.mit.edu	37	4	166929162	166929162	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:166929162C>T	ENST00000061240.2	+	7	1526	c.879C>T	c.(877-879)ttC>ttT	p.F293F	TLL1_ENST00000507499.1_Silent_p.F293F|TLL1_ENST00000513213.1_Silent_p.F293F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	293	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F293F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATATGATTTCGACAGTATCA	0.413																																					p.F293F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879T	4						.						134.0	124.0	127.0					4																	166929162		2203	4300	6503	167148612	SO:0001819	synonymous_variant	7092	exon7			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.879C>T	4.37:g.166929162C>T			167148612	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.413	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	broad.mit.edu	37	4	166960510	166960510	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:166960510C>T	ENST00000061240.2	+	10	1825	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	TLL1_ENST00000507499.1_Missense_Mutation_p.T393M	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	393	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T393M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATTTTACAACGATGGATCTA	0.363																																					p.T393M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1178T	4						.						118.0	116.0	117.0					4																	166960510		2203	4300	6503	167179960	SO:0001583	missense	7092	exon10			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1178C>T	4.37:g.166960510C>T	ENSP00000061240:p.Thr393Met		167179960	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180692	0.57800	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.18657	2.2;2.2	5.62	5.62	0.85841	CUB (5);	0.000000	0.85682	U	0.000000	T	0.43299	0.1241	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	T	0.17048	-1.0382	10	0.62326	D	0.03	.	19.6679	0.95900	0.0:1.0:0.0:0.0	.	393;393	E9PD25;O43897	.;TLL1_HUMAN	M	393	ENSP00000061240:T393M;ENSP00000426082:T393M	ENSP00000061240:T393M	T	+	2	0	TLL1	167179960	1.000000	0.71417	0.776000	0.31678	0.053000	0.15095	7.758000	0.85224	2.650000	0.89964	0.563000	0.77884	ACG		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
SPOCK3	50859	broad.mit.edu	37	4	167656218	167656218	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:167656218C>A	ENST00000357154.3	-	12	1302	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y	SPOCK3_ENST00000511531.1_Missense_Mutation_p.D389Y|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D269Y|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D386Y|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D389Y|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D338Y|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D386Y|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D291Y|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D293Y|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D389Y|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D291Y|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D346Y|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D386Y|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D257Y	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	389					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.D386Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ctagcaaaatcTCCGGAGATC	0.318																																					p.D389Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165T	4						.						114.0	112.0	113.0					4																	167656218		2203	4300	6503	167892793	SO:0001583	missense	50859	exon12			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1165G>T	4.37:g.167656218C>A	ENSP00000349677:p.Asp389Tyr		167892793	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500644	0.64298	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	1.32;1.32;1.32;1.32;1.32;1.32;1.38;1.26;0.77;1.32;1.37;1.13;0.77;1.03	5.11	5.11	0.69529	.	0.052780	0.85682	D	0.000000	T	0.71013	0.3290	M	0.77486	2.375	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.998;0.997;0.999;0.997	T	0.75031	-0.3461	10	0.87932	D	0	-2.9254	18.5633	0.91108	0.0:1.0:0.0:0.0	.	291;293;338;398;346;386;389	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	Y	389;386;386;389;389;389;346;269;291;386;257;338;291;293	ENSP00000349677:D389Y;ENSP00000350153:D386Y;ENSP00000425570:D386Y;ENSP00000420920:D389Y;ENSP00000423421:D389Y;ENSP00000423606:D389Y;ENSP00000426716:D346Y;ENSP00000444789:D269Y;ENSP00000426318:D291Y;ENSP00000425502:D386Y;ENSP00000441396:D257Y;ENSP00000411344:D338Y;ENSP00000445430:D291Y;ENSP00000438142:D293Y	ENSP00000349677:D389Y	D	-	1	0	SPOCK3	167892793	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.206000	0.65192	2.557000	0.86248	0.632000	0.83419	GAT		0.318	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
SPOCK3	50859	broad.mit.edu	37	4	167833783	167833783	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:167833783G>T	ENST00000357154.3	-	6	608	c.471C>A	c.(469-471)acC>acA	p.T157T	SPOCK3_ENST00000511531.1_Silent_p.T157T|SPOCK3_ENST00000541354.1_Silent_p.T37T|SPOCK3_ENST00000504953.1_Silent_p.T154T|SPOCK3_ENST00000502330.1_Silent_p.T157T|SPOCK3_ENST00000421836.2_Silent_p.T106T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.T154T|SPOCK3_ENST00000512648.1_Silent_p.T154T|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000534949.1_Silent_p.T61T|SPOCK3_ENST00000506886.1_Silent_p.T157T|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000510741.1_Silent_p.T154T|SPOCK3_ENST00000511269.1_Silent_p.T154T|SPOCK3_ENST00000535728.1_Silent_p.T65T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	157	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.T154T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GAAAAGAGTAGGTATGACCAT	0.423																																					p.T157T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C471A	4						.						114.0	110.0	112.0					4																	167833783		2203	4300	6503	168070358	SO:0001819	synonymous_variant	50859	exon6			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.471C>A	4.37:g.167833783G>T			168070358	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	CCDS54817.1																																																																																				0.423	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
DDX60	55601	broad.mit.edu	37	4	169158486	169158486	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169158486A>G	ENST00000393743.3	-	32	4653	c.4362T>C	c.(4360-4362)agT>agC	p.S1454S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1454					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.S1454S(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTACAAGAAAACTGACAAAAA	0.358																																					p.S1454S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T4362C	4						.						52.0	50.0	50.0					4																	169158486		2203	4299	6502	169395061	SO:0001819	synonymous_variant	55601	exon32			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4362T>C	4.37:g.169158486A>G			169395061	NM_017631	Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	CCDS34097.1																																																																																				0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60	55601	broad.mit.edu	37	4	169172230	169172230	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169172230T>G	ENST00000393743.3	-	28	4024	c.3733A>C	c.(3733-3735)Aaa>Caa	p.K1245Q	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1245	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.K1245Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTTCAAATTTTACTCGACCA	0.289																																					p.K1245Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3733C	4						.						105.0	109.0	108.0					4																	169172230		2201	4300	6501	169408805	SO:0001583	missense	55601	exon28			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3733A>C	4.37:g.169172230T>G	ENSP00000377344:p.Lys1245Gln		169408805	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532512	0.27387	.	.	ENSG00000137628	ENST00000393743	T	0.44482	0.92	5.12	3.91	0.45181	Helicase, C-terminal (1);	0.364791	0.26432	N	0.024413	T	0.33933	0.0880	L	0.45228	1.405	0.09310	N	1	B	0.26002	0.139	B	0.23275	0.045	T	0.19451	-1.0305	10	0.41790	T	0.15	.	10.9316	0.47222	0.1407:0.0:0.0:0.8593	.	1245	Q8IY21	DDX60_HUMAN	Q	1245	ENSP00000377344:K1245Q	ENSP00000377344:K1245Q	K	-	1	0	DDX60	169408805	0.038000	0.19896	0.001000	0.08648	0.027000	0.11550	2.625000	0.46452	0.771000	0.33359	0.383000	0.25322	AAA		0.289	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60	55601	broad.mit.edu	37	4	169176904	169176904	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169176904T>G	ENST00000393743.3	-	26	3806	c.3515A>C	c.(3514-3516)aAa>aCa	p.K1172T	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1172					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.K1172T(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTTCGAAGTTTGTTAGCCAT	0.368																																					p.K1172T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3515C	4						.						118.0	116.0	117.0					4																	169176904		2202	4298	6500	169413479	SO:0001583	missense	55601	exon26			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3515A>C	4.37:g.169176904T>G	ENSP00000377344:p.Lys1172Thr		169413479	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	t	12.84	2.059559	0.36373	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.42900	0.96	4.94	3.77	0.43336	.	0.234286	0.30126	N	0.010355	T	0.41534	0.1163	M	0.72894	2.215	0.33329	D	0.568383	D	0.56287	0.975	P	0.44477	0.451	T	0.55471	-0.8136	10	0.26408	T	0.33	.	8.8439	0.35159	0.0:0.0861:0.0:0.9139	.	1172	Q8IY21	DDX60_HUMAN	T	1172;264	ENSP00000377344:K1172T	ENSP00000377344:K1172T	K	-	2	0	DDX60	169413479	0.994000	0.37717	0.903000	0.35520	0.356000	0.29392	0.677000	0.25262	0.918000	0.36919	0.378000	0.23410	AAA		0.368	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60	55601	broad.mit.edu	37	4	169201497	169201497	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169201497C>T	ENST00000393743.3	-	14	2258	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	656					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R656Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTTCACTTCGGCAATGTTC	0.363																																					p.R656Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1967A	4						.						84.0	78.0	80.0					4																	169201497		2202	4300	6502	169438072	SO:0001583	missense	55601	exon14			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1967G>A	4.37:g.169201497C>T	ENSP00000377344:p.Arg656Gln		169438072	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169466	0.21621	.	.	ENSG00000137628	ENST00000393743	T	0.18338	2.22	5.48	-8.31	0.01001	.	1.565850	0.03683	N	0.245871	T	0.08223	0.0205	N	0.04355	-0.22	0.09310	N	1	B	0.22346	0.068	B	0.12156	0.007	T	0.21484	-1.0244	10	0.36615	T	0.2	.	14.5318	0.67931	0.1068:0.751:0.0:0.1422	.	656	Q8IY21	DDX60_HUMAN	Q	656	ENSP00000377344:R656Q	ENSP00000377344:R656Q	R	-	2	0	DDX60	169438072	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.504000	0.00449	-1.654000	0.01499	0.563000	0.77884	CGA		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60	55601	broad.mit.edu	37	4	169227682	169227682	+	Missense_Mutation	SNP	C	C	T	rs545288798		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169227682C>T	ENST00000393743.3	-	5	745	c.454G>A	c.(454-456)Gat>Aat	p.D152N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	152					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.D152N(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTGTAGATCGTTCAGGCCT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18139	0.0		0.0	False		,,,				2504	0.0				p.D152N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G454A	4						.						102.0	106.0	105.0					4																	169227682		2203	4300	6503	169464257	SO:0001583	missense	55601	exon5			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.454G>A	4.37:g.169227682C>T	ENSP00000377344:p.Asp152Asn		169464257	NM_017631	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	3.788	-0.044330	0.07452	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	5.11	-6.05	0.02172	.	0.934725	0.08910	N	0.875946	T	0.11324	0.0276	L	0.31752	0.955	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.33929	-0.9849	10	0.23302	T	0.38	.	7.1343	0.25519	0.0614:0.4703:0.1578:0.3105	.	152	Q8IY21	DDX60_HUMAN	N	152	ENSP00000377344:D152N	ENSP00000377344:D152N	D	-	1	0	DDX60	169464257	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-2.450000	0.01007	-1.152000	0.02832	0.563000	0.77884	GAT		0.408	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631	
DDX60L	91351	broad.mit.edu	37	4	169294925	169294925	+	Silent	SNP	G	G	A	rs573671869	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169294925G>A	ENST00000511577.1	-	35	4915	c.4668C>T	c.(4666-4668)ctC>ctT	p.L1556L	DDX60L_ENST00000260184.7_Silent_p.L1556L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1556							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.L1557L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTGAGACACGAGTTGGGAGT	0.408													G|||	2	0.000399361	0.0	0.0	5008	,	,		21368	0.0		0.0	False		,,,				2504	0.002				p.L1556L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4668T	4						.						159.0	160.0	160.0					4																	169294925		2190	4300	6490	169531500	SO:0001819	synonymous_variant	91351	exon35			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4668C>T	4.37:g.169294925G>A			169531500	NM_001012967	Q96ND6	Silent	SNP	ENST00000511577.1	37																																																																																					0.408	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
DDX60L	91351	broad.mit.edu	37	4	169300925	169300925	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169300925C>T	ENST00000511577.1	-	31	4420	c.4173G>A	c.(4171-4173)gaG>gaA	p.E1391E	DDX60L_ENST00000260184.7_Silent_p.E1391E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1391							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.E1392E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTTCAAAGTCTCCATGGCTC	0.348																																					p.E1391E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4173A	4						.						81.0	79.0	80.0					4																	169300925		1861	4101	5962	169537500	SO:0001819	synonymous_variant	91351	exon31			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4173G>A	4.37:g.169300925C>T			169537500	NM_001012967	Q96ND6	Silent	SNP	ENST00000511577.1	37																																																																																					0.348	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
DDX60L	91351	broad.mit.edu	37	4	169317115	169317115	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169317115C>A	ENST00000511577.1	-	27	3899	c.3652G>T	c.(3652-3654)Gac>Tac	p.D1218Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.D1218Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.D1219Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1218	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.D1219Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CGTACTGAGTCTTTATTCCTG	0.333																																					p.D1218Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3652T	4						.						97.0	87.0	90.0					4																	169317115		1816	4068	5884	169553690	SO:0001583	missense	91351	exon27			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3652G>T	4.37:g.169317115C>A	ENSP00000422423:p.Asp1218Tyr		169553690	NM_001012967	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.065|5.065	0.197618|0.197618	0.09652|0.09652	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890|ENST00000514580	T;T;T|.	0.71698|.	-0.59;-0.59;0.93|.	1.7|1.7	1.7|1.7	0.24286|0.24286	Helicase, C-terminal (1);|.	.|.	.|.	.|.	.|.	T|T	0.24353|0.24353	0.0590|0.0590	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17465|.	0.004;0.022;0.004|.	B;B;B|.	0.25140|.	0.0;0.058;0.0|.	T|T	0.20405|0.20405	-1.0276|-1.0276	9|5	0.37606|.	T|.	0.19|.	.|.	6.827|6.827	0.23889|0.23889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1218;1219;1218|.	E9PAP8;D6R906;Q5H9U9|.	.;.;DDX6L_HUMAN|.	Y|I	1218;1218;1219|105	ENSP00000260184:D1218Y;ENSP00000422423:D1218Y;ENSP00000422202:D1219Y|.	ENSP00000260184:D1218Y|.	D|R	-|-	1|2	0|0	DDX60L|DDX60L	169553690|169553690	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	0.408000|0.408000	0.21065|0.21065	1.230000|1.230000	0.43646|0.43646	0.313000|0.313000	0.20887|0.20887	GAC|AGA		0.333	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
DDX60L	91351	broad.mit.edu	37	4	169336825	169336825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169336825G>T	ENST00000511577.1	-	21	3099	c.2852C>A	c.(2851-2853)tCa>tAa	p.S951*	DDX60L_ENST00000260184.7_Nonsense_Mutation_p.S951*|DDX60L_ENST00000505890.1_Nonsense_Mutation_p.S951*			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	951							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.S951*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AACTTCATATGATTGATTTTT	0.274																																					p.S951X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2852A	4						.						66.0	56.0	59.0					4																	169336825		1784	4061	5845	169573400	SO:0001587	stop_gained	91351	exon21			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2852C>A	4.37:g.169336825G>T	ENSP00000422423:p.Ser951*		169573400	NM_001012967	Q96ND6	Nonsense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	G	41	8.839528	0.98974	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	.	.	.	3.23	3.23	0.37069	.	0.000000	0.32386	U	0.006179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3214	0.60434	0.0:0.0:1.0:0.0	.	.	.	.	X	951;951;951;647	.	ENSP00000260184:S951X	S	-	2	0	DDX60L	169573400	0.994000	0.37717	0.224000	0.23877	0.546000	0.35178	3.728000	0.54991	1.481000	0.48307	0.313000	0.20887	TCA		0.274	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
DDX60L	91351	broad.mit.edu	37	4	169340492	169340492	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169340492T>G	ENST00000511577.1	-	19	2818	c.2571A>C	c.(2569-2571)caA>caC	p.Q857H	DDX60L_ENST00000260184.7_Missense_Mutation_p.Q857H|DDX60L_ENST00000505890.1_Missense_Mutation_p.Q857H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	857	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.Q857H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CCACCCATTTTTGGCGATGAG	0.368																																					p.Q857H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2571C	4						.						58.0	58.0	58.0					4																	169340492		2195	4300	6495	169577067	SO:0001583	missense	91351	exon19			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2571A>C	4.37:g.169340492T>G	ENSP00000422423:p.Gln857His		169577067	NM_001012967	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	T	16.87	3.241300	0.58995	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890	T;T;T	0.15139	2.45;2.45;2.45	3.49	-0.914	0.10497	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.36740	U	0.002425	T	0.31040	0.0784	L	0.58101	1.795	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.08106	-1.0738	10	0.49607	T	0.09	.	9.5369	0.39229	0.0:0.521:0.0:0.479	.	857;857	D6R906;Q5H9U9	.;DDX6L_HUMAN	H	857	ENSP00000260184:Q857H;ENSP00000422423:Q857H;ENSP00000422202:Q857H	ENSP00000260184:Q857H	Q	-	3	2	DDX60L	169577067	0.683000	0.27633	0.001000	0.08648	0.700000	0.40528	0.824000	0.27379	-0.397000	0.07691	-0.456000	0.05471	CAA		0.368	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
PALLD	23022	broad.mit.edu	37	4	169633002	169633002	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169633002A>C	ENST00000505667.1	+	10	2065	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	PALLD_ENST00000512127.1_Missense_Mutation_p.K249T|PALLD_ENST00000261509.6_Missense_Mutation_p.K631T|PALLD_ENST00000335742.7_Missense_Mutation_p.K249T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	631					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.K631T(1)|p.K249T(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACAGTAATAAATCTCTTCCA	0.458									Pancreatic Cancer, Familial Clustering of																												p.K631T	Esophageal Squamous(109;1482 1532 18347 40239 51172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1892C	4						.						82.0	83.0	83.0					4																	169633002		2203	4300	6503	169869577	SO:0001583	missense	23022	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1892A>C	4.37:g.169633002A>C	ENSP00000425556:p.Lys631Thr		169869577	NM_016081	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	2.481	-0.319693	0.05386	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.64085	-0.08;-0.08;0.21;-0.02	5.81	1.83	0.25207	.	0.000000	0.33980	U	0.004364	T	0.43545	0.1252	L	0.45581	1.43	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.002	B;B;B	0.10450	0.005;0.0;0.005	T	0.17107	-1.0380	10	0.14252	T	0.57	.	0.894	0.01260	0.4764:0.1298:0.1444:0.2494	.	631;249;631	B7ZMM5;B3KTG2;B2RTX2	.;.;.	T	631;249;631;249	ENSP00000261509:K631T;ENSP00000336735:K249T;ENSP00000425556:K631T;ENSP00000426947:K249T	ENSP00000261509:K631T	K	+	2	0	PALLD	169869577	0.556000	0.26538	0.008000	0.14137	0.001000	0.01503	0.951000	0.29135	0.083000	0.17047	-0.408000	0.06270	AAA		0.458	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
PALLD	23022	broad.mit.edu	37	4	169812173	169812173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:169812173C>T	ENST00000505667.1	+	11	2238	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	PALLD_ENST00000512127.1_Missense_Mutation_p.R307C|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R689C|PALLD_ENST00000335742.7_Missense_Mutation_p.R531C|PALLD_ENST00000507735.1_Missense_Mutation_p.R202C			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	913	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.R689C(1)|p.R531C(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ACGAAAACTTCGCTTCAAGGA	0.463									Pancreatic Cancer, Familial Clustering of																												p.R689C	Esophageal Squamous(109;1482 1532 18347 40239 51172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2065T	4						.						85.0	82.0	83.0					4																	169812173		2203	4300	6503	170048748	SO:0001583	missense	23022	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2065C>T	4.37:g.169812173C>T	ENSP00000425556:p.Arg689Cys		170048748	NM_016081	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091572	0.94149	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.67345	-0.26;-0.25;-0.16;-0.22;0.14	5.2	5.2	0.72013	.	0.000000	0.32655	U	0.005813	T	0.81945	0.4930	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.994;0.997	T	0.81799	-0.0767	10	0.42905	T	0.14	.	18.728	0.91722	0.0:1.0:0.0:0.0	.	689;913;307;689	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	C	689;531;689;307;202	ENSP00000261509:R689C;ENSP00000336735:R531C;ENSP00000425556:R689C;ENSP00000426947:R307C;ENSP00000424016:R202C	ENSP00000261509:R689C	R	+	1	0	PALLD	170048748	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.703000	0.84585	2.423000	0.82170	0.591000	0.81541	CGC		0.463	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
SH3RF1	57630	broad.mit.edu	37	4	170038875	170038875	+	Missense_Mutation	SNP	G	G	A	rs368721358		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:170038875G>A	ENST00000284637.9	-	9	1917	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	526	Interaction with AKT2. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R526W(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTCACTCCCCGACTTGTCTGG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16108	0.0		0.0	False		,,,				2504	0.0				p.R526W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1576T	4						.	G	TRP/ARG	0,4406		0,0,2203	51.0	49.0	49.0		1576	3.0	0.1	4		49	2,8598	2.2+/-6.3	0,2,4298	no	missense	SH3RF1	NM_020870.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	526/889	170038875	2,13004	2203	4300	6503	170275450	SO:0001583	missense	57630	exon9			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1576C>T	4.37:g.170038875G>A	ENSP00000284637:p.Arg526Trp		170275450	NM_020870	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692727	0.48202	0.0	2.33E-4	ENSG00000154447	ENST00000284637	T	0.13657	2.57	5.72	3.01	0.34805	Src homology-3 domain (1);	0.169330	0.51477	D	0.000084	T	0.17492	0.0420	L	0.50333	1.59	0.40447	D	0.980106	D	0.61697	0.99	P	0.48952	0.596	T	0.01301	-1.1391	10	0.72032	D	0.01	-9.8535	8.6039	0.33762	0.067:0.0:0.5424:0.3905	.	526	Q7Z6J0	SH3R1_HUMAN	W	526	ENSP00000284637:R526W	ENSP00000284637:R526W	R	-	1	2	SH3RF1	170275450	1.000000	0.71417	0.055000	0.19348	0.432000	0.31715	2.546000	0.45778	0.325000	0.23359	0.561000	0.74099	CGG		0.582	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870	
CLCN3	1182	broad.mit.edu	37	4	170638970	170638970	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:170638970G>T	ENST00000513761.1	+	13	2925				CLCN3_ENST00000347613.4_Missense_Mutation_p.K798N|CLCN3_ENST00000504131.2_Intron|CLCN3_ENST00000360642.3_Intron	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3						chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.K798N(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCACAAAGAAGAACATATTAG	0.358																																					p.K798N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2394T	4						.						101.0	98.0	99.0					4																	170638970		2203	4300	6503	170875545	SO:0001627	intron_variant	1182	exon13			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2367-2088G>T	4.37:g.170638970G>T			170875545	NM_173872	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613716	0.87359	.	.	ENSG00000109572	ENST00000347613	D	0.93859	-3.3	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96900	0.9659	9	0.87932	D	0	-8.2469	20.6439	0.99570	0.0:0.0:1.0:0.0	.	798	P51790-2	.	N	798	ENSP00000261514:K798N	ENSP00000261514:K798N	K	+	3	2	CLCN3	170875545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.890000	0.99128	0.650000	0.86243	AAG		0.358	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
CLRN2	645104	broad.mit.edu	37	4	17528703	17528703	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:17528703T>G	ENST00000511148.2	+	3	799	c.697T>G	c.(697-699)Taa>Gaa	p.*233E	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	0						integral component of membrane (GO:0016021)		p.*250E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TATCTTGTATTAATAGCCTTC	0.483																																					p.X233E												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T697G	4						.						116.0	119.0	118.0					4																	17528703		2109	4220	6329	17137801	SO:0001578	stop_lost	645104	exon3				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.697T>G	4.37:g.17528703T>G	ENSP00000424711:p.*233Gluext*1		17137801	NM_001079827		Nonstop_Mutation	SNP	ENST00000511148.2	37	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924566	0.73213	.	.	ENSG00000249581	ENST00000511148	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8801	0.70525	0.0:0.0:0.0:1.0	.	.	.	.	E	233	.	.	X	+	1	0	CLRN2	17137801	1.000000	0.71417	0.137000	0.22149	0.937000	0.57800	7.233000	0.78125	2.007000	0.58848	0.460000	0.39030	TAA		0.483	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	
LAP3	51056	broad.mit.edu	37	4	17600150	17600150	+	Silent	SNP	G	G	A	rs147122901		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:17600150G>A	ENST00000226299.4	+	10	1423	c.1149G>A	c.(1147-1149)ccG>ccA	p.P383P	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Silent_p.P352P	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	383					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.P383P(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CGTTTAACCCGAAGGTCATCC	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0				p.P383P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1149A	4						.	G		2,4404	4.2+/-10.8	0,2,2201	200.0	151.0	168.0		1149	-10.1	0.0	4	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LAP3	NM_015907.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		383/520	17600150	3,13003	2203	4300	6503	17209248	SO:0001819	synonymous_variant	51056	exon10			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1149G>A	4.37:g.17600150G>A			17209248	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	CCDS3422.1																																																																																				0.493	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1		
LAP3	51056	broad.mit.edu	37	4	17609189	17609189	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:17609189C>T	ENST00000226299.4	+	13	1811	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.R482C	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	513					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)	p.R513C(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTTCTTACTTCGTTTCAGTCA	0.393																																					p.R513C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1537T	4						.						100.0	93.0	95.0					4																	17609189		2203	4300	6503	17218287	SO:0001583	missense	51056	exon13			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1537C>T	4.37:g.17609189C>T	ENSP00000226299:p.Arg513Cys		17218287	NM_015907	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572517	0.45798	.	.	ENSG00000002549	ENST00000226299	T	0.47869	0.83	5.87	5.02	0.67125	.	0.335001	0.37761	N	0.001952	T	0.53867	0.1823	M	0.84082	2.675	0.48288	D	0.999622	D	0.67145	0.996	B	0.41271	0.352	T	0.66638	-0.5873	10	0.72032	D	0.01	-7.3905	16.5309	0.84359	0.1315:0.8684:0.0:0.0	.	513	P28838	AMPL_HUMAN	C	513	ENSP00000226299:R513C	ENSP00000226299:R513C	R	+	1	0	LAP3	17218287	0.980000	0.34600	0.013000	0.15412	0.046000	0.14306	3.964000	0.56780	1.484000	0.48361	0.655000	0.94253	CGT		0.393	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1		
MFAP3L	9848	broad.mit.edu	37	4	170912532	170912532	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:170912532G>T	ENST00000361618.3	-	3	1534	c.1227C>A	c.(1225-1227)gtC>gtA	p.V409V	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.V306V	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	409						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V409V(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)		GTTGGTATTAGACATGGCTTT	0.473																																					p.V409V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1227A	4						.						148.0	135.0	140.0					4																	170912532		2203	4300	6503	171149107	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.1227C>A	4.37:g.170912532G>T			171149107	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	CCDS34103.1																																																																																				0.473	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
GALNT7	51809	broad.mit.edu	37	4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:174238797G>A	ENST00000265000.4	+	10	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E541K(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393																																					p.E541K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1621A	4						.						124.0	121.0	122.0					4																	174238797		2203	4300	6503	174475372	SO:0001583	missense	51809	exon10			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1621G>A	4.37:g.174238797G>A	ENSP00000265000:p.Glu541Lys		174475372	NM_017423	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745155|2.745155	0.49151|0.49151	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|.	0.26223|.	1.75|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ricin B-related lectin (1);Ricin B lectin (2);|.	0.349077|.	0.35525|.	N|.	0.003151|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	B|.	0.31655|.	0.334|.	B|.	0.18561|.	0.022|.	T|T	0.78250|0.78250	-0.2277|-0.2277	10|5	0.44086|.	T|.	0.13|.	.|.	18.6221|18.6221	0.91324|0.91324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	541|.	Q86SF2|.	GALT7_HUMAN|.	K|Q	541|111	ENSP00000265000:E541K|.	ENSP00000265000:E541K|.	E|R	+|+	1|2	0|0	GALNT7|GALNT7	174475372|174475372	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	9.781000|9.781000	0.99029|0.99029	2.566000|2.566000	0.86566|0.86566	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
SAP30	8819	broad.mit.edu	37	4	174294593	174294593	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:174294593G>A	ENST00000296504.3	+	2	608	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	RP11-798M19.6_ENST00000609153.1_RNA	NM_003864.3	NP_003855.1			Sin3A-associated protein, 30kDa									p.R123Q(1)		large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGAGTGTTCGAAACAGAAGA	0.348																																					p.R123Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	4						.						136.0	132.0	134.0					4																	174294593		2203	4300	6503	174531168	SO:0001583	missense	8819	exon2			AF055993	CCDS3817.1	4q34.1	2008-02-05	2006-02-02		ENSG00000164105	ENSG00000164105			10532	protein-coding gene	gene with protein product		603378	"""sin3A-associated protein, 30kDa"""			9651585	Standard	NM_003864		Approved		uc003itd.3	O75446	OTTHUMG00000160798	ENST00000296504.3:c.368G>A	4.37:g.174294593G>A	ENSP00000296504:p.Arg123Gln		174531168	NM_003864		Missense_Mutation	SNP	ENST00000296504.3	37	CCDS3817.1	.	.	.	.	.	.	.	.	.	.	G	36	5.792537	0.96945	.	.	ENSG00000164105	ENST00000296504	.	.	.	5.62	5.62	0.85841	.	0.138494	0.35936	N	0.002886	T	0.79924	0.4530	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81230	-0.1027	9	0.87932	D	0	-28.5905	19.6456	0.95775	0.0:0.0:1.0:0.0	.	123	O75446	SAP30_HUMAN	Q	123	.	ENSP00000296504:R123Q	R	+	2	0	SAP30	174531168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.727000	0.98787	2.630000	0.89119	0.655000	0.94253	CGA		0.348	SAP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362360.1	NM_003864	
CEP44	80817	broad.mit.edu	37	4	175231080	175231080	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:175231080C>T	ENST00000503780.1	+	8	1172	c.758C>T	c.(757-759)tCg>tTg	p.S253L	CEP44_ENST00000296519.4_Missense_Mutation_p.S253L|CEP44_ENST00000426172.1_Missense_Mutation_p.S253L|CEP44_ENST00000457424.2_Missense_Mutation_p.S253L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	253						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)		p.S253L(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AAACTGACTTCGATAGAGAAA	0.348																																					p.S253L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758T	4						.						67.0	73.0	71.0					4																	175231080		2203	4300	6503	175467655	SO:0001583	missense	80817	exon8			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.758C>T	4.37:g.175231080C>T	ENSP00000423153:p.Ser253Leu		175467655	NM_001040157	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.979512	0.00448	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.39406	1.11;1.08;1.08;1.11	5.71	-5.99	0.02213	.	1.760470	0.02397	N	0.080302	T	0.09468	0.0233	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31166	-0.9953	10	0.02654	T	1	.	3.1926	0.06623	0.1208:0.1606:0.3153:0.4033	.	253;253	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	253	ENSP00000423153:S253L;ENSP00000389427:S253L;ENSP00000408221:S253L;ENSP00000296519:S253L	ENSP00000296519:S253L	S	+	2	0	CEP44	175467655	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	-0.168000	0.09925	-0.988000	0.03489	-1.900000	0.00529	TCG		0.348	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633	
GPM6A	2823	broad.mit.edu	37	4	176733370	176733370	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:176733370C>A	ENST00000280187.7	-	2	54	c.9G>T	c.(7-9)gaG>gaT	p.E3D	RP11-806K15.1_ENST00000514864.1_RNA|GPM6A_ENST00000506894.1_Intron|GPM6A_ENST00000393658.2_Missense_Mutation_p.E3D	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	3					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.E3D(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTTCCATATTCTCTTCCATGG	0.338																																					p.E3D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9T	4						.						197.0	199.0	198.0					4																	176733370		2202	4300	6502	176970364	SO:0001583	missense	2823	exon1				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.9G>T	4.37:g.176733370C>A	ENSP00000280187:p.Glu3Asp		176970364	NM_201591	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204583	0.38905	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000513365;ENST00000503563	D;D;D	0.99264	-5.65;-5.65;-4.89	5.57	5.57	0.84162	.	0.326201	0.35708	N	0.003030	D	0.96914	0.8992	N	0.22421	0.69	0.80722	D	1	B	0.23316	0.083	B	0.23716	0.048	D	0.93911	0.7197	10	0.56958	D	0.05	.	10.3762	0.44083	0.0:0.8542:0.0:0.1458	.	3	P51674	GPM6A_HUMAN	D	3	ENSP00000280187:E3D;ENSP00000377268:E3D;ENSP00000423122:E3D	ENSP00000280187:E3D	E	-	3	2	GPM6A	176970364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.339000	0.43965	2.779000	0.95612	0.655000	0.94253	GAG		0.338	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		
WDR17	116966	broad.mit.edu	37	4	177049909	177049909	+	Missense_Mutation	SNP	C	C	T	rs146789582	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177049909C>T	ENST00000280190.4	+	7	1039	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	WDR17_ENST00000508596.1_Missense_Mutation_p.R271C|WDR17_ENST00000393643.2_Missense_Mutation_p.R271C|WDR17_ENST00000507824.2_Missense_Mutation_p.R278C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	295								p.R295C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGTGTTTTACGCATTTGGAA	0.303													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14386	0.001		0.0	False		,,,				2504	0.0				p.R271C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C811T	4						.	C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	55.0	53.0	54.0		883,811	4.5	1.0	4	dbSNP_134	54	1,8579	1.2+/-3.3	0,1,4289	no	missense,missense	WDR17	NM_170710.4,NM_181265.3	180,180	0,1,6491	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	295/1323,271/1284	177049909	1,12983	2202	4290	6492	177286903	SO:0001583	missense	116966	exon6			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.883C>T	4.37:g.177049909C>T	ENSP00000280190:p.Arg295Cys		177286903	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	19.75	3.885671	0.72410	0.0	1.17E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.64260	-0.09;-0.09;-0.09	5.45	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80531	-0.1341	10	0.87932	D	0	-16.6086	14.1509	0.65384	0.2327:0.7673:0.0:0.0	.	271;295	E7EQX0;Q8IZU2	.;WDR17_HUMAN	C	271;271;295;278	ENSP00000422763:R271C;ENSP00000377258:R271C;ENSP00000280190:R295C	ENSP00000280190:R295C	R	+	1	0	WDR17	177286903	0.995000	0.38212	0.962000	0.40283	0.959000	0.62525	2.620000	0.46410	2.555000	0.86185	0.650000	0.86243	CGC		0.303	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
WDR17	116966	broad.mit.edu	37	4	177093609	177093609	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177093609T>G	ENST00000280190.4	+	26	3459	c.3303T>G	c.(3301-3303)taT>taG	p.Y1101*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.Y1062*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.Y1077*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Y1076*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1101								p.Y1101*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGTAAAATATTACTTGTTAA	0.323																																					p.Y1062X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T3186G	4						.						73.0	76.0	75.0					4																	177093609		2203	4299	6502	177330603	SO:0001587	stop_gained	116966	exon24			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3303T>G	4.37:g.177093609T>G	ENSP00000280190:p.Tyr1101*		177330603	NM_181265	E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.740877|9.740877	0.99252|0.99252	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.86|5.86	4.67|4.67	0.58626|0.58626	.|.	.|0.314478	.|0.30859	.|N	.|0.008727	T|.	0.25827|.	0.0629|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28138|.	-1.0053|.	3|.	.|0.02654	.|T	.|1	-15.1733|-15.1733	10.4218|10.4218	0.44354|0.44354	0.0:0.1298:0.0:0.8702|0.0:0.1298:0.0:0.8702	.|.	.|.	.|.	.|.	V|X	336|1062;1077;1101;1077	.|.	.|ENSP00000280190:Y1101X	L|Y	+|+	1|3	2|2	WDR17|WDR17	177330603|177330603	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.979000|0.979000	0.70002|0.70002	1.026000|1.026000	0.30103|0.30103	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.323	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
WDR17	116966	broad.mit.edu	37	4	177098225	177098225	+	Missense_Mutation	SNP	C	C	T	rs200502473		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177098225C>T	ENST00000280190.4	+	29	3739	c.3583C>T	c.(3583-3585)Cgg>Tgg	p.R1195W	WDR17_ENST00000508596.1_Missense_Mutation_p.R1156W|WDR17_ENST00000393643.2_Missense_Mutation_p.R1171W|WDR17_ENST00000507824.2_Missense_Mutation_p.R1170W			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1195								p.R1195W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTAAAACGTCGGGAGGTGTC	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16070	0.0		0.0	False		,,,				2504	0.0				p.R1156W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3466T	4						.						66.0	66.0	66.0					4																	177098225		2203	4300	6503	177335219	SO:0001583	missense	116966	exon27			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3583C>T	4.37:g.177098225C>T	ENSP00000280190:p.Arg1195Trp		177335219	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	18.66|18.66	3.671996|3.671996	0.67928|0.67928	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000443118	T;T;T|.	0.59638|.	0.25;0.25;0.25|.	5.85|5.85	2.75|2.75	0.32379|0.32379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72301|0.72301	0.3443|0.3443	M|M	0.70595|0.70595	2.14|2.14	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.969;0.997;0.997|.	T|T	0.73369|0.73369	-0.4004|-0.4004	10|5	0.87932|.	D|.	0|.	-20.0309|-20.0309	16.1509|16.1509	0.81622|0.81622	0.3578:0.6422:0.0:0.0|0.3578:0.6422:0.0:0.0	.|.	1171;1156;1195|.	E7EP77;E7EQX0;Q8IZU2|.	.;.;WDR17_HUMAN|.	W|L	1156;1171;1195;1171|429	ENSP00000422763:R1156W;ENSP00000377258:R1171W;ENSP00000280190:R1195W|.	ENSP00000280190:R1195W|.	R|S	+|+	1|2	2|0	WDR17|WDR17	177335219|177335219	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.934000|0.934000	0.57294|0.57294	1.006000|1.006000	0.29847|0.29847	0.753000|0.753000	0.32945|0.32945	0.644000|0.644000	0.83932|0.83932	CGG|TCG		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
WDR17	116966	broad.mit.edu	37	4	177098286	177098286	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177098286C>T	ENST00000280190.4	+	29	3800	c.3644C>T	c.(3643-3645)gCt>gTt	p.A1215V	WDR17_ENST00000508596.1_Missense_Mutation_p.A1176V|WDR17_ENST00000393643.2_Missense_Mutation_p.A1191V|WDR17_ENST00000507824.2_Missense_Mutation_p.A1190V			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1215			A -> T (in dbSNP:rs17625943). {ECO:0000269|PubMed:15489334}.					p.A1215V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCATGGAGAGCTTGCACACAG	0.378																																					p.A1176V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3527T	4						.						60.0	61.0	61.0					4																	177098286		2203	4299	6502	177335280	SO:0001583	missense	116966	exon27			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3644C>T	4.37:g.177098286C>T	ENSP00000280190:p.Ala1215Val		177335280	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692634	0.88735	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.55234	0.53;0.53;0.53	5.94	5.08	0.68730	.	0.192654	0.43579	D	0.000542	T	0.54565	0.1866	M	0.69823	2.125	0.54753	D	0.999987	P;P;P	0.45768	0.866;0.866;0.866	B;B;B	0.39503	0.301;0.301;0.301	T	0.62812	-0.6775	10	0.62326	D	0.03	-16.1407	17.0228	0.86438	0.0:0.8727:0.1273:0.0	.	1191;1176;1215	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	V	1176;1191;1215;1191	ENSP00000422763:A1176V;ENSP00000377258:A1191V;ENSP00000280190:A1215V	ENSP00000280190:A1215V	A	+	2	0	WDR17	177335280	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.223000	0.58587	1.491000	0.48482	0.644000	0.83932	GCT		0.378	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
SPATA4	132851	broad.mit.edu	37	4	177105940	177105940	+	Missense_Mutation	SNP	C	C	A	rs73005175		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177105940C>A	ENST00000280191.2	-	6	1017	c.909G>T	c.(907-909)aaG>aaT	p.K303N	SPATA4_ENST00000515234.1_Missense_Mutation_p.K130N	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	303						cytoplasm (GO:0005737)		p.K303N(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTCAAGGTTTCTTGTCCATGT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16832	0.0		0.0	False		,,,				2504	0.0				p.K303N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G909T	4						.						142.0	124.0	130.0					4																	177105940		2203	4300	6503	177342934	SO:0001583	missense	132851	exon6			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.909G>T	4.37:g.177105940C>A	ENSP00000280191:p.Lys303Asn		177342934	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.239	1.037811	0.19669	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.54279	0.58	3.62	-0.331	0.12679	.	0.842376	0.10000	N	0.728602	T	0.37892	0.1020	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36040	-0.9764	10	0.72032	D	0.01	.	2.8165	0.05457	0.3873:0.3862:0.0:0.2264	.	303	Q8NEY3	SPAT4_HUMAN	N	303;130	ENSP00000280191:K303N	ENSP00000280191:K303N	K	-	3	2	SPATA4	177342934	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.320000	0.08028	-0.089000	0.12484	-0.302000	0.09304	AAG		0.378	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	
SPATA4	132851	broad.mit.edu	37	4	177114154	177114154	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177114154G>A	ENST00000280191.2	-	3	530	c.422C>T	c.(421-423)cCt>cTt	p.P141L	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	141						cytoplasm (GO:0005737)		p.P141L(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CAATATTTCAGGCACTCCAGC	0.279																																					p.P141L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C422T	4						.						61.0	64.0	63.0					4																	177114154		2203	4294	6497	177351148	SO:0001583	missense	132851	exon3			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.422C>T	4.37:g.177114154G>A	ENSP00000280191:p.Pro141Leu		177351148	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833484	0.71258	.	.	ENSG00000150628	ENST00000280191	T	0.21191	2.02	5.45	5.45	0.79879	.	0.276047	0.35349	N	0.003272	T	0.34716	0.0907	L	0.38175	1.15	0.80722	D	1	D	0.58970	0.984	D	0.63113	0.911	T	0.01010	-1.1482	10	0.41790	T	0.15	-15.4166	16.5682	0.84604	0.0:0.0:1.0:0.0	.	141	Q8NEY3	SPAT4_HUMAN	L	141	ENSP00000280191:P141L	ENSP00000280191:P141L	P	-	2	0	SPATA4	177351148	0.999000	0.42202	0.945000	0.38365	0.808000	0.45660	5.868000	0.69605	2.705000	0.92388	0.655000	0.94253	CCT		0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	
ASB5	140458	broad.mit.edu	37	4	177138092	177138092	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177138092C>T	ENST00000296525.3	-	6	852	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ASB5_ENST00000512254.1_Missense_Mutation_p.E194K	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	247					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.E247K(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)		TTTACAATTTCTGTGCTGGAT	0.398																																					p.E247K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739A	4						.						193.0	185.0	187.0					4																	177138092		2203	4300	6503	177375086	SO:0001583	missense	140458	exon6			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.739G>A	4.37:g.177138092C>T	ENSP00000296525:p.Glu247Lys		177375086	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585779	0.66105	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.70164	-0.46;-0.33	5.45	5.45	0.79879	Ankyrin repeat-containing domain (4);	0.224693	0.45867	D	0.000324	T	0.60676	0.2287	L	0.42581	1.335	0.80722	D	1	B;P	0.42483	0.279;0.781	B;B	0.35813	0.138;0.211	T	0.66268	-0.5966	10	0.59425	D	0.04	-31.8578	19.6512	0.95812	0.0:1.0:0.0:0.0	.	247;194	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	K	247;194	ENSP00000296525:E247K;ENSP00000422877:E194K	ENSP00000296525:E247K	E	-	1	0	ASB5	177375086	0.996000	0.38824	0.095000	0.20976	0.620000	0.37586	4.243000	0.58721	2.712000	0.92718	0.591000	0.81541	GAA		0.398	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
SPCS3	60559	broad.mit.edu	37	4	177248412	177248412	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177248412G>A	ENST00000503362.1	+	4	507	c.394G>A	c.(394-396)Gat>Aat	p.D132N	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	132					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)	p.D132N(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TTTCTTTGACGATGGAAATGG	0.323																																					p.D132N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	4						.						43.0	40.0	41.0					4																	177248412		1801	4067	5868	177485406	SO:0001583	missense	60559	exon4			AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.394G>A	4.37:g.177248412G>A	ENSP00000427463:p.Asp132Asn		177485406	NM_021928	P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191955	0.94923	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.76574	2.34	0.80722	D	1	D	0.65815	0.995	D	0.70716	0.97	T	0.74153	-0.3757	9	0.24483	T	0.36	-7.8415	19.5183	0.95174	0.0:0.0:1.0:0.0	.	132	P61009	SPCS3_HUMAN	N	132	.	ENSP00000427463:D132N	D	+	1	0	SPCS3	177485406	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.444000	0.97578	2.633000	0.89246	0.655000	0.94253	GAT		0.323	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928	
VEGFC	7424	broad.mit.edu	37	4	177609002	177609002	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:177609002A>C	ENST00000280193.2	-	5	1199	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	262					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.F262V(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAACATAAAATCTTCCTGA	0.428																																					p.F262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T784G	4						.						115.0	109.0	111.0					4																	177609002		1906	4128	6034	177845996	SO:0001583	missense	7424	exon5			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.784T>G	4.37:g.177609002A>C	ENSP00000280193:p.Phe262Val		177845996	NM_005429	B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	A	3.485	-0.105163	0.06967	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.33	4.15	0.48705	.	0.071591	0.56097	D	0.000037	T	0.36496	0.0969	L	0.36672	1.1	0.36364	D	0.860879	B	0.15473	0.013	B	0.06405	0.002	T	0.33317	-0.9873	9	0.19147	T	0.46	-6.7477	6.9833	0.24715	0.774:0.1505:0.0756:0.0	.	262	P49767	VEGFC_HUMAN	V	262	.	ENSP00000280193:F262V	F	-	1	0	VEGFC	177845996	0.997000	0.39634	0.905000	0.35620	0.032000	0.12392	2.348000	0.44045	2.152000	0.67230	0.528000	0.53228	TTT		0.428	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
NEIL3	55247	broad.mit.edu	37	4	178256953	178256953	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:178256953C>A	ENST00000264596.3	+	3	508	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	130					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.F130L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TGATTTGTTTCTTTGACTCAT	0.353								Base excision repair (BER), DNA glycosylases																													p.F130L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C390A	4						.						58.0	62.0	61.0					4																	178256953		2201	4299	6500	178493947	SO:0001583	missense	55247	exon3			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.390C>A	4.37:g.178256953C>A	ENSP00000264596:p.Phe130Leu		178493947	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873222	0.72180	.	.	ENSG00000109674	ENST00000264596	T	0.28069	1.63	5.14	5.14	0.70334	DNA glycosylase/AP lyase, catalytic domain (2);	0.051110	0.85682	D	0.000000	T	0.47728	0.1461	M	0.75264	2.295	0.58432	D	0.999995	D	0.64830	0.994	P	0.58266	0.836	T	0.48969	-0.8987	10	0.66056	D	0.02	-9.943	9.4177	0.38532	0.0:0.8409:0.0:0.1591	.	130	Q8TAT5	NEIL3_HUMAN	L	130	ENSP00000264596:F130L	ENSP00000264596:F130L	F	+	3	2	NEIL3	178493947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.210000	0.42816	2.666000	0.90696	0.561000	0.74099	TTC		0.353	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
AGA	175	broad.mit.edu	37	4	178359952	178359952	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:178359952G>T	ENST00000264595.2	-	4	581	c.454C>A	c.(454-456)Caa>Aaa	p.Q152K	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	152					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.Q152K(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGAAGAGCTTGAGAAGCAGTG	0.338																																					p.Q152K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454A	4						.						59.0	53.0	55.0					4																	178359952		2203	4300	6503	178596946	SO:0001583	missense	175	exon4			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.454C>A	4.37:g.178359952G>T	ENSP00000264595:p.Gln152Lys		178596946	NM_001171988	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.538122	0.00942	.	.	ENSG00000038002	ENST00000264595;ENST00000502310	D;D	0.87179	-2.22;-2.03	5.65	1.9	0.25705	.	1.085000	0.06904	N	0.806466	T	0.71821	0.3385	N	0.12663	0.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56220	-0.8015	10	0.02654	T	1	-28.7697	6.7987	0.23738	0.0657:0.2279:0.582:0.1244	.	152	P20933	ASPG_HUMAN	K	152;37	ENSP00000264595:Q152K;ENSP00000423798:Q37K	ENSP00000264595:Q152K	Q	-	1	0	AGA	178596946	0.957000	0.32711	0.017000	0.16124	0.391000	0.30476	2.342000	0.43992	0.031000	0.15407	-0.127000	0.14921	CAA		0.338	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027	
TENM3	55714	broad.mit.edu	37	4	183268050	183268050	+	Missense_Mutation	SNP	C	C	T	rs180775304		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183268050C>T	ENST00000511685.1	+	3	602	c.479C>T	c.(478-480)aCg>aTg	p.T160M	TENM3_ENST00000406950.2_Missense_Mutation_p.T160M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	160	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T160M(1)									CTGACAGATACGGAGCACGAA	0.527																																					p.T160M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C479T	4						.						72.0	76.0	75.0					4																	183268050		1995	4178	6173	183505044	SO:0001583	missense	55714	exon2			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.479C>T	4.37:g.183268050C>T	ENSP00000424226:p.Thr160Met		183505044	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406859	0.62399	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.36340	1.26;1.26;1.26	4.58	4.58	0.56647	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.58864	0.2152	M	0.61703	1.905	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62699	-0.6799	9	0.72032	D	0.01	.	17.9314	0.88998	0.0:1.0:0.0:0.0	.	160;160	D6RGC5;Q9P273	.;TEN3_HUMAN	M	160	ENSP00000421320:T160M;ENSP00000424226:T160M;ENSP00000385276:T160M	ENSP00000385276:T160M	T	+	2	0	ODZ3	183505044	1.000000	0.71417	0.930000	0.37139	0.991000	0.79684	7.609000	0.82925	2.532000	0.85374	0.563000	0.77884	ACG		0.527	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183594202	183594202	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183594202G>A	ENST00000511685.1	+	7	1279	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	TENM3_ENST00000406950.2_Missense_Mutation_p.G386R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	386					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G386*(1)|p.G386R(1)									CATAGATTCCGGAGAACTTGA	0.363																																					p.G386R												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G1156A	4						.						35.0	33.0	33.0					4																	183594202		1811	4083	5894	183831196	SO:0001583	missense	55714	exon6			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1156G>A	4.37:g.183594202G>A	ENSP00000424226:p.Gly386Arg		183831196	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862373	0.91511	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.40225	1.04;1.04	4.91	4.91	0.64330	.	.	.	.	.	T	0.67306	0.2879	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71361	-0.4616	9	0.87932	D	0	.	18.7292	0.91728	0.0:0.0:1.0:0.0	.	386	Q9P273	TEN3_HUMAN	R	386	ENSP00000424226:G386R;ENSP00000385276:G386R	ENSP00000385276:G386R	G	+	1	0	ODZ3	183831196	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	9.351000	0.97073	2.720000	0.93068	0.558000	0.71614	GGA		0.363	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183664510	183664510	+	Silent	SNP	C	C	T	rs189480567		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183664510C>T	ENST00000511685.1	+	19	3690	c.3567C>T	c.(3565-3567)ggC>ggT	p.G1189G	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.G1189G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1189					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G1189G(1)									TGTACGTAGGCGATTTCAACT	0.473																																					p.G1189G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3567T	4						.						102.0	106.0	105.0					4																	183664510		1997	4173	6170	183901504	SO:0001819	synonymous_variant	55714	exon18			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3567C>T	4.37:g.183664510C>T			183901504	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.473	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183675643	183675643	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183675643C>T	ENST00000511685.1	+	22	4246	c.4123C>T	c.(4123-4125)Cgc>Tgc	p.R1375C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1375C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1375					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1375C(1)									TCGTCAAGTTCGCATTGCTGC	0.493																																					p.R1375C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4123T	4						.						59.0	56.0	57.0					4																	183675643		1988	4176	6164	183912637	SO:0001583	missense	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4123C>T	4.37:g.183675643C>T	ENSP00000424226:p.Arg1375Cys		183912637	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723342	0.48728	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90900	-2.75;-2.75	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.92463	0.7607	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	D	0.93556	0.6891	9	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	1375	Q9P273	TEN3_HUMAN	C	1375	ENSP00000424226:R1375C;ENSP00000385276:R1375C	ENSP00000385276:R1375C	R	+	1	0	ODZ3	183912637	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.905000	0.63286	2.906000	0.99361	0.655000	0.94253	CGC		0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183710493	183710493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183710493C>T	ENST00000511685.1	+	25	5675	c.5552C>T	c.(5551-5553)tCt>tTt	p.S1851F	TENM3_ENST00000406950.2_Missense_Mutation_p.S1851F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1851					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1851F(1)									AGGATCGTGTCTCGGGTCTTT	0.443																																					p.S1851F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5552T	4						.						87.0	87.0	87.0					4																	183710493		1977	4155	6132	183947487	SO:0001583	missense	55714	exon24			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5552C>T	4.37:g.183710493C>T	ENSP00000424226:p.Ser1851Phe		183947487	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260508	0.80246	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.87650	-2.28;-2.28	5.1	5.1	0.69264	.	.	.	.	.	D	0.92430	0.7597	M	0.81239	2.535	0.80722	D	1	D	0.61080	0.989	P	0.56278	0.795	D	0.93393	0.6753	9	0.87932	D	0	.	18.7243	0.91708	0.0:1.0:0.0:0.0	.	1851	Q9P273	TEN3_HUMAN	F	1851	ENSP00000424226:S1851F;ENSP00000385276:S1851F	ENSP00000385276:S1851F	S	+	2	0	ODZ3	183947487	1.000000	0.71417	0.724000	0.30704	0.766000	0.43426	7.583000	0.82559	2.644000	0.89710	0.591000	0.81541	TCT		0.443	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183713468	183713468	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:183713468C>T	ENST00000511685.1	+	26	5766	c.5643C>T	c.(5641-5643)ttC>ttT	p.F1881F	TENM3_ENST00000406950.2_Silent_p.F1881F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1881					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F1881F(1)									AGTACATCTTCGAATACGATA	0.498																																					p.F1881F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5643T	4						.						95.0	97.0	97.0					4																	183713468		2044	4184	6228	183950462	SO:0001819	synonymous_variant	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5643C>T	4.37:g.183713468C>T			183950462	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.498	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
WWC2	80014	broad.mit.edu	37	4	184207126	184207126	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:184207126C>T	ENST00000403733.3	+	20	3254	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	WWC2_ENST00000504005.1_Missense_Mutation_p.R701W|WWC2_ENST00000513834.1_Missense_Mutation_p.R970W|WWC2_ENST00000508747.1_Missense_Mutation_p.R147W|WWC2_ENST00000448232.2_Missense_Mutation_p.R1043W	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1019					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.R1019W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCAGTTAAATCGGAGTGACAG	0.408																																					p.R1019W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3055T	4						.						54.0	48.0	50.0					4																	184207126		2203	4300	6503	184444120	SO:0001583	missense	80014	exon20			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3055C>T	4.37:g.184207126C>T	ENSP00000384222:p.Arg1019Trp		184444120	NM_024949	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288018	0.80803	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005;ENST00000508747	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000012	D	0.83617	0.5293	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.86723	0.1943	10	0.87932	D	0	-16.1301	18.9946	0.92807	0.0:1.0:0.0:0.0	.	1043;1019;147;970	Q6AWC2-6;Q6AWC2;Q6AWC2-7;Q6AWC2-4	.;WWC2_HUMAN;.;.	W	1019;970;1043;701;147	ENSP00000384222:R1019W;ENSP00000425054:R970W;ENSP00000398577:R1043W;ENSP00000427569:R701W;ENSP00000420835:R147W	ENSP00000384222:R1019W	R	+	1	2	WWC2	184444120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.710000	0.74670	2.716000	0.92895	0.655000	0.94253	CGG		0.408	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
WWC2	80014	broad.mit.edu	37	4	184233556	184233556	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:184233556C>A	ENST00000403733.3	+	22	3646	c.3447C>A	c.(3445-3447)gtC>gtA	p.V1149V	WWC2_ENST00000504005.1_Silent_p.V831V|WWC2_ENST00000513834.1_Silent_p.V1100V|WWC2_ENST00000508747.1_Silent_p.V277V|WWC2_ENST00000448232.2_Silent_p.V1173V	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1149					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.V1149V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAGGCAAGTCTCCAAGGACG	0.512																																					p.V1149V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3447A	4						.						117.0	119.0	118.0					4																	184233556		2203	4300	6503	184470550	SO:0001819	synonymous_variant	80014	exon22			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3447C>A	4.37:g.184233556C>A			184470550	NM_024949	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	CCDS34109.2																																																																																				0.512	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
ING2	3622	broad.mit.edu	37	4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:184431464G>A	ENST00000302327.3	+	2	404	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_ENST00000434682.2_Missense_Mutation_p.E28K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	68					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.E68K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318																																					p.E68K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	4						.						84.0	99.0	94.0					4																	184431464		2192	4293	6485	184668458	SO:0001583	missense	3622	exon2			AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.202G>A	4.37:g.184431464G>A	ENSP00000307183:p.Glu68Lys		184668458	NM_001564	B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545290	0.65198	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.54	5.54	0.83059	Double Clp-N motif (1);Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.989	T	0.80301	-0.1440	9	0.21540	T	0.41	-17.2433	19.6745	0.95926	0.0:0.0:1.0:0.0	.	28;68	B6ZDS1;Q9H160	.;ING2_HUMAN	K	68;28;28	.	ENSP00000307183:E68K	E	+	1	0	ING2	184668458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.222000	0.95196	2.880000	0.98712	0.650000	0.86243	GAA		0.318	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564	
ENPP6	133121	broad.mit.edu	37	4	185018484	185018484	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:185018484C>T	ENST00000296741.2	-	7	1172	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	344					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.G344D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCCCGCCTGCCGGTGCTGTT	0.587																																					p.G344D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1031A	4						.						100.0	87.0	92.0					4																	185018484		2203	4300	6503	185255478	SO:0001583	missense	133121	exon7			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1031G>A	4.37:g.185018484C>T	ENSP00000296741:p.Gly344Asp		185255478	NM_153343	Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187825	0.38609	.	.	ENSG00000164303	ENST00000296741	T	0.75938	-0.98	5.35	4.51	0.55191	Alkaline-phosphatase-like, core domain (1);	2.351530	0.01268	N	0.009395	T	0.78336	0.4267	M	0.73430	2.235	0.44652	D	0.997633	B	0.23990	0.095	B	0.24394	0.053	T	0.51810	-0.8658	10	0.22706	T	0.39	-23.3923	14.0991	0.65042	0.0:0.9269:0.0:0.0731	.	344	Q6UWR7	ENPP6_HUMAN	D	344	ENSP00000296741:G344D	ENSP00000296741:G344D	G	-	2	0	ENPP6	185255478	0.998000	0.40836	0.984000	0.44739	0.448000	0.32197	2.407000	0.44565	1.502000	0.48669	0.511000	0.50034	GGC		0.587	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343	
CASP3	836	broad.mit.edu	37	4	185552974	185552974	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:185552974A>G	ENST00000308394.4	-	6	690	c.428T>C	c.(427-429)tTc>tCc	p.F143S	CASP3_ENST00000393588.4_Missense_Mutation_p.F143S|CASP3_ENST00000517513.1_Missense_Mutation_p.F143S|CASP3_ENST00000393585.2_Missense_Mutation_p.F143S|CASP3_ENST00000523916.1_Missense_Mutation_p.F143S	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	143					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)	p.F143S(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	ATCCCCTCTGAAAAAGTTTGT	0.373																																					p.F143S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T428C	4						.						86.0	88.0	87.0					4																	185552974		2203	4300	6503	185789968	SO:0001583	missense	836	exon5			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.428T>C	4.37:g.185552974A>G	ENSP00000311032:p.Phe143Ser		185789968	NM_032991	A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360555	0.82353	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000517513;ENST00000393588	T;T;T;T;T	0.29397	1.57;3.35;1.57;3.35;3.35	5.74	5.74	0.90152	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.044528	0.85682	D	0.000000	T	0.75339	0.3836	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.95	D	0.87209	0.2246	10	0.87932	D	0	.	16.0347	0.80617	1.0:0.0:0.0:0.0	.	143;143	P42574;A8MVM1	CASP3_HUMAN;.	S	143	ENSP00000311032:F143S;ENSP00000377210:F143S;ENSP00000428929:F143S;ENSP00000428372:F143S;ENSP00000377213:F143S	ENSP00000311032:F143S	F	-	2	0	CASP3	185789968	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	6.078000	0.71282	2.194000	0.70268	0.459000	0.35465	TTC		0.373	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346	
PRIMPOL	201973	broad.mit.edu	37	4	185582935	185582935	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:185582935C>A	ENST00000314970.6	+	5	719	c.286C>A	c.(286-288)Ctc>Atc	p.L96I	PRIMPOL_ENST00000515774.1_5'UTR|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.L96I|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.L96I	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	96					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.L96I(1)									TAGAAAAAATCTCTTACACTG	0.338																																					p.L96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286A	4						.						42.0	42.0	42.0					4																	185582935		2203	4299	6502	185819929	SO:0001583	missense	201973	exon5			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.286C>A	4.37:g.185582935C>A	ENSP00000313816:p.Leu96Ile		185819929	NM_152683	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701365	0.68501	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.31769	1.48;1.48;1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.49126	1.545	0.48341	D	0.999631	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.27773	-1.0064	10	0.39692	T	0.17	-0.0018	13.2776	0.60196	0.0:0.9277:0.0:0.0723	.	96;96	Q96LW4;D6RDM1	CC111_HUMAN;.	I	96	ENSP00000313816:L96I;ENSP00000420860:L96I;ENSP00000425316:L96I	ENSP00000313816:L96I	L	+	1	0	CCDC111	185819929	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.531000	0.60602	2.737000	0.93849	0.563000	0.77884	CTC		0.338	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683	
PRIMPOL	201973	broad.mit.edu	37	4	185616499	185616499	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:185616499G>A	ENST00000314970.6	+	0	2289				MLF1IP_ENST00000506535.1_5'Flank|MLF1IP_ENST00000281453.5_Silent_p.A400A	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)						mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.A400A(1)									GATGGCTTTCGGCTCCCAGAA	0.388																																					p.A400A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1200T	4						.						149.0	158.0	155.0					4																	185616499		2203	4300	6503	185853493	SO:0001628	intergenic_variant	79682	exon13			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495		4.37:g.185616499G>A			185853493	NM_024629	D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	ENST00000314970.6	37	CCDS3837.1																																																																																				0.388	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683	
SNX25	83891	broad.mit.edu	37	4	186241890	186241890	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186241890C>A	ENST00000504273.1	+	8	1150	c.856C>A	c.(856-858)Ctt>Att	p.L286I	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.L286I			Q9H3E2	SNX25_HUMAN	sorting nexin 25	286					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.L286I(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTAATAGATTCTTCAGTTTGA	0.323																																					p.L286I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C856A	4						.						72.0	74.0	73.0					4																	186241890		2203	4300	6503	186478884	SO:0001583	missense	83891	exon8			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.856C>A	4.37:g.186241890C>A	ENSP00000426255:p.Leu286Ile		186478884	NM_031953	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357453	0.61293	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.30714	1.52;1.52	5.26	5.26	0.73747	Regulator of G protein signalling superfamily (1);	0.071599	0.56097	D	0.000029	T	0.48390	0.1497	M	0.62723	1.935	0.42659	D	0.993479	D;D	0.63880	0.993;0.976	P;B	0.55999	0.789;0.433	T	0.37197	-0.9716	10	0.37606	T	0.19	-6.2615	19.2279	0.93824	0.0:1.0:0.0:0.0	.	57;286	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	I	286	ENSP00000426255:L286I;ENSP00000264694:L286I	ENSP00000264694:L286I	L	+	1	0	SNX25	186478884	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.656000	0.67988	2.627000	0.88993	0.561000	0.74099	CTT		0.323	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
ANKRD37	353322	broad.mit.edu	37	4	186320760	186320760	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186320760C>T	ENST00000335174.4	+	4	749	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L103L(1)		NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CTGAAGATCTCGCTTGGTCAT	0.353																																					p.L103L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309T	4						.						82.0	80.0	81.0					4																	186320760		2203	4300	6503	186557754	SO:0001819	synonymous_variant	353322	exon4			AY296056	CCDS3841.1	4q35.1	2013-01-11						"""Ankyrin repeat domain containing"""	29593	protein-coding gene	gene with protein product							Standard	NM_181726		Approved	Lrp2bp	uc003ixm.3	Q7Z713		ENST00000335174.4:c.309C>T	4.37:g.186320760C>T			186557754	NM_181726		Silent	SNP	ENST00000335174.4	37	CCDS3841.1																																																																																				0.353	ANKRD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360673.1	NM_181726	
SORBS2	8470	broad.mit.edu	37	4	186548027	186548027	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186548027G>T	ENST00000284776.7	-	12	1390	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	SORBS2_ENST00000319471.9_Missense_Mutation_p.S452Y|SORBS2_ENST00000437304.2_Missense_Mutation_p.S545Y|SORBS2_ENST00000418609.1_Missense_Mutation_p.S198Y|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.S387Y|SORBS2_ENST00000449407.2_Missense_Mutation_p.S365Y|SORBS2_ENST00000355634.5_Missense_Mutation_p.S394Y|SORBS2_ENST00000448662.2_Missense_Mutation_p.S382Y|SORBS2_ENST00000431808.1_Missense_Mutation_p.S294Y	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	294					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.S294Y(1)|p.S382Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTAGTGAAAGACTTTGTAAG	0.493																																					p.S382Y	Esophageal Squamous(153;41 2433 9491 36028)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1145A	4						.						156.0	144.0	148.0					4																	186548027		2203	4300	6503	186785021	SO:0001583	missense	8470	exon13				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.881C>A	4.37:g.186548027G>T	ENSP00000284776:p.Ser294Tyr		186785021	NM_001145672	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.286626|4.286626	0.80803|0.80803	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000445625|ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	.|T;T;T;T;T;T;T;T;T;T;T	.|0.38401	.|1.26;1.45;1.26;1.14;1.25;1.25;1.49;1.25;1.59;1.42;2.54	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.164731	.|0.56097	.|D	.|0.000035	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.43152|0.43152	1.355|1.355	0.40212|0.40212	D|D	0.977639|0.977639	.|P;D;D;B;D;D;D;B;P;D;P;P;D;D;D	.|0.71674	.|0.828;0.998;0.958;0.121;0.976;0.997;0.986;0.059;0.52;0.976;0.924;0.943;0.969;0.986;0.998	.|B;P;P;B;P;P;P;B;B;P;B;B;P;P;P	.|0.62649	.|0.34;0.904;0.635;0.101;0.564;0.905;0.814;0.074;0.221;0.556;0.34;0.423;0.742;0.742;0.904	T|T	0.48864|0.48864	-0.8997|-0.8997	5|10	.|0.45353	.|T	.|0.12	-7.8304|-7.8304	19.1442|19.1442	0.93458|0.93458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|357;387;382;198;213;270;412;394;294;365;545;382;412;366;387	.|B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.|.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	I|Y	240|294;382;294;198;545;452;365;394;387;412;170	.|ENSP00000284776:S294Y;ENSP00000409158:S382Y;ENSP00000411764:S294Y;ENSP00000397482:S198Y;ENSP00000396008:S545Y;ENSP00000322182:S452Y;ENSP00000397262:S365Y;ENSP00000347852:S394Y;ENSP00000377162:S387Y;ENSP00000321983:S412Y;ENSP00000401818:S170Y	.|ENSP00000284776:S294Y	L|S	-|-	1|2	0|0	SORBS2|SORBS2	186785021|186785021	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.893000|0.893000	0.52053|0.52053	8.560000|8.560000	0.90712|0.90712	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.493	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
SORBS2	8470	broad.mit.edu	37	4	186567890	186567890	+	Missense_Mutation	SNP	G	G	A	rs139199897		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:186567890G>A	ENST00000284776.7	-	10	1125	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	SORBS2_ENST00000319471.9_Missense_Mutation_p.R292W|SORBS2_ENST00000437304.2_Missense_Mutation_p.R385W|SORBS2_ENST00000418609.1_Missense_Mutation_p.R110W|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.R252W|SORBS2_ENST00000449407.2_Missense_Mutation_p.R277W|SORBS2_ENST00000355634.5_Missense_Mutation_p.R306W|SORBS2_ENST00000448662.2_Missense_Mutation_p.R275W|SORBS2_ENST00000431808.1_Missense_Mutation_p.R206W	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	206				R -> Q (in Ref. 5; AK225327). {ECO:0000305}.	actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.R275W(1)|p.R206W(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGCTCAGACCGAAATTTTCTT	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		17372	0.0		0.001	False		,,,				2504	0.0				p.R275W	Esophageal Squamous(153;41 2433 9491 36028)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C823T	4						.	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	113.0	113.0	113.0		829,874,823,1153,328,373,754,616	5.2	1.0	4	dbSNP_134	113	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	SORBS2	NM_001145670.1,NM_001145671.1,NM_001145672.1,NM_001145673.1,NM_001145674.1,NM_001145675.1,NM_003603.5,NM_021069.4	101,101,101,101,101,101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	277/645,292/732,275/662,385/825,110/1005,125/493,252/667,206/1101	186567890	2,13004	2203	4300	6503	186804884	SO:0001583	missense	8470	exon10				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.616C>T	4.37:g.186567890G>A	ENSP00000284776:p.Arg206Trp		186804884	NM_001145672	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.689906|4.689906	0.88735|0.88735	4.54E-4|4.54E-4	0.0|0.0	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000438278	T;T;T;T;T;T;T;T;T;T;T|.	0.36520|.	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74733|0.74733	0.3755|0.3755	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.993;0.995;0.998;0.998;0.994;0.994;0.998;0.993;0.998;0.998;0.997;0.992;0.993;0.999;0.995;0.999|.	T|T	0.72633|0.72633	-0.4234|-0.4234	10|5	0.87932|.	D|.	0|.	-20.4189|-20.4189	19.0427|19.0427	0.93008|0.93008	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	269;252;275;110;125;125;110;252;306;206;277;385;275;252;206;252|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	W|L	206;275;206;110;385;292;277;306;252;252;63|149	ENSP00000284776:R206W;ENSP00000409158:R275W;ENSP00000411764:R206W;ENSP00000397482:R110W;ENSP00000396008:R385W;ENSP00000322182:R292W;ENSP00000397262:R277W;ENSP00000347852:R306W;ENSP00000377162:R252W;ENSP00000321983:R252W;ENSP00000401818:R63W|.	ENSP00000284776:R206W|.	R|S	-|-	1|2	2|0	SORBS2|SORBS2	186804884|186804884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.935000|5.935000	0.70145|0.70145	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.363	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187004176G>T	ENST00000296795.3	+	4	1440	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.E169*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	446					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E446*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423																																					p.E446X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1336T	4						.						63.0	60.0	61.0					4																	187004176		2203	4300	6503	187241170	SO:0001587	stop_gained	7098	exon4			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1336G>T	4.37:g.187004176G>T	ENSP00000296795:p.Glu446*		187241170	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	37	6.300725	0.97453	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	5.78	2.94	0.34122	.	0.508073	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.6193	0.08089	0.2006:0.1151:0.5659:0.1184	.	.	.	.	X	446;446;169	.	ENSP00000296795:E446X	E	+	1	0	TLR3	187241170	0.361000	0.24972	0.991000	0.47740	0.946000	0.59487	1.072000	0.30678	0.766000	0.33244	0.557000	0.71058	GAA		0.423	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
TLR3	7098	broad.mit.edu	37	4	187005911	187005911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187005911C>T	ENST00000296795.3	+	5	2703	c.2599C>T	c.(2599-2601)Cga>Tga	p.R867*	TLR3_ENST00000504367.1_Nonsense_Mutation_p.R590*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	867	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R867*(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACTCTGTTTGCGAAGAGGAAT	0.393																																					p.R867X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2599T	4						.						93.0	94.0	94.0					4																	187005911		2203	4300	6503	187242905	SO:0001587	stop_gained	7098	exon5			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2599C>T	4.37:g.187005911C>T	ENSP00000296795:p.Arg867*		187242905	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Nonsense_Mutation	SNP	ENST00000296795.3	37	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	41	8.539888	0.98854	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	.	.	.	6.02	1.79	0.24919	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8869	0.79258	0.6104:0.3895:0.0:0.0	.	.	.	.	X	867;867;590	.	ENSP00000296795:R867X	R	+	1	2	TLR3	187242905	0.618000	0.27051	0.998000	0.56505	0.914000	0.54420	0.842000	0.27627	0.384000	0.24942	-0.127000	0.14921	CGA		0.393	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
FAM149A	25854	broad.mit.edu	37	4	187086609	187086609	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187086609C>T	ENST00000356371.5	+	11	2028	c.2028C>T	c.(2026-2028)cgC>cgT	p.R676R	FAM149A_ENST00000389354.5_Silent_p.R385R|FAM149A_ENST00000514153.1_Silent_p.R385R|FAM149A_ENST00000227065.4_Silent_p.R385R|FAM149A_ENST00000503432.1_Silent_p.R385R|FAM149A_ENST00000502970.1_Silent_p.R385R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	676								p.R385R(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTGGATGCCGCCTTGTTTCTG	0.478																																					p.R385R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1155T	4						.						97.0	93.0	95.0					4																	187086609		2203	4300	6503	187323603	SO:0001819	synonymous_variant	25854	exon10			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2028C>T	4.37:g.187086609C>T			187323603	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.375|0.375	-0.931754|-0.931754	0.02359|0.02359	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271	.|.	.|.	.|.	5.55|5.55	0.665|0.665	0.17896|0.17896	.|.	.|.	.|.	.|.	.|.	T|T	0.23054|0.23054	0.0557|0.0557	.|.	.|.	.|.	0.24686|0.24686	N|N	0.993331|0.993331	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24225|0.24225	-1.0166|-1.0166	4|4	.|.	.|.	.|.	-8.8792|-8.8792	3.025|3.025	0.06087|0.06087	0.1411:0.3304:0.3771:0.1515|0.1411:0.3304:0.3771:0.1515	.|.	.|.	.|.	.|.	V|S	63|63	.|.	.|.	A|P	+|+	2|1	0|0	FAM149A|FAM149A	187323603|187323603	0.002000|0.002000	0.14202|0.14202	0.233000|0.233000	0.24025|0.24025	0.015000|0.015000	0.08874|0.08874	-0.396000|-0.396000	0.07278|0.07278	-0.091000|-0.091000	0.12440|0.12440	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.478	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
CYP4V2	285440	broad.mit.edu	37	4	187118744	187118744	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187118744G>A	ENST00000378802.4	+	5	966	c.662G>A	c.(661-663)cGt>cAt	p.R221H		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	221					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R221H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GAGTATGTCCGTGCAGTTTAT	0.333																																					p.R221H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	4						.						138.0	141.0	140.0					4																	187118744		2203	4300	6503	187355738	SO:0001583	missense	285440	exon5			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.662G>A	4.37:g.187118744G>A	ENSP00000368079:p.Arg221His		187355738	NM_207352	B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652364	0.47362	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.69040	-0.37	5.2	3.47	0.39725	.	0.113275	0.56097	D	0.000022	T	0.58878	0.2153	L	0.54323	1.7	0.40846	D	0.983712	B	0.22003	0.063	B	0.20955	0.032	T	0.56823	-0.7915	10	0.49607	T	0.09	.	9.0645	0.36455	0.228:0.0:0.772:0.0	.	221	Q6ZWL3	CP4V2_HUMAN	H	221;199	ENSP00000368079:R221H	ENSP00000274118:R199H	R	+	2	0	CYP4V2	187355738	0.999000	0.42202	0.994000	0.49952	0.982000	0.71751	1.498000	0.35660	0.768000	0.33290	0.655000	0.94253	CGT		0.333	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612	
CYP4V2	285440	broad.mit.edu	37	4	187120130	187120130	+	Nonsense_Mutation	SNP	C	C	T	rs369063468		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187120130C>T	ENST00000378802.4	+	6	998	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	232					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R232*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GATGATATTTCGAAGAATAAA	0.368																																					p.R232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C694T	4						.	C	stop/ARG	0,4406		0,0,2203	130.0	129.0	129.0		694	2.9	0.0	4		129	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CYP4V2	NM_207352.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		232/526	187120130	1,13005	2203	4300	6503	187357124	SO:0001587	stop_gained	285440	exon6			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.694C>T	4.37:g.187120130C>T	ENSP00000368079:p.Arg232*		187357124	NM_207352	B7U6W2|Q6ZTM4	Nonsense_Mutation	SNP	ENST00000378802.4	37	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624180	0.96660	0.0	1.16E-4	ENSG00000145476	ENST00000378802;ENST00000274118	.	.	.	4.77	2.93	0.34026	.	0.191557	0.43747	D	0.000534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.1448	0.59454	0.3001:0.6999:0.0:0.0	.	.	.	.	X	232;210	.	ENSP00000274118:R210X	R	+	1	2	CYP4V2	187357124	0.002000	0.14202	0.011000	0.14972	0.307000	0.27823	1.701000	0.37825	0.546000	0.28920	0.644000	0.83932	CGA		0.368	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612	
KLKB1	3818	broad.mit.edu	37	4	187155158	187155158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187155158C>T	ENST00000264690.6	+	4	461	c.274C>T	c.(274-276)Cga>Tga	p.R92*	KLKB1_ENST00000513864.1_Nonsense_Mutation_p.R92*	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	92	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R92*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAAGTACATCGAACAGGTGC	0.348																																					p.R92X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C274T	4						.						156.0	147.0	150.0					4																	187155158		2203	4300	6503	187392152	SO:0001587	stop_gained	3818	exon4			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.274C>T	4.37:g.187155158C>T	ENSP00000264690:p.Arg92*		187392152	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonsense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278849	0.23307	.	.	ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715	.	.	.	4.73	0.326	0.15908	.	0.646568	0.13708	N	0.368356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.7818	0.23650	0.6349:0.2641:0.0:0.101	.	.	.	.	X	92;92;54;54;92;54	.	ENSP00000264690:R92X	R	+	1	2	KLKB1	187392152	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.113000	0.10774	-0.047000	0.13423	0.650000	0.86243	CGA		0.348	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
KLKB1	3818	broad.mit.edu	37	4	187172752	187172752	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187172752G>A	ENST00000264690.6	+	9	1167	c.980G>A	c.(979-981)cGc>cAc	p.R327H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R327H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	327	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R327H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAGATGATTCGCTGTCAGTTT	0.353																																					p.R327H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G980A	4						.						94.0	101.0	98.0					4																	187172752		2202	4300	6502	187409746	SO:0001583	missense	3818	exon9			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.980G>A	4.37:g.187172752G>A	ENSP00000264690:p.Arg327His		187409746	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.92|15.92	2.976451|2.976451	0.53720|0.53720	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.89681	.|-2.55;-2.55	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.92090|0.92090	0.7493|0.7493	L|L	0.37897|0.37897	1.145|1.145	0.41896|0.41896	D|D	0.990397|0.990397	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.83275	.|0.983;0.996;0.98	D|D	0.92657|0.92657	0.6138|0.6138	5|10	.|0.59425	.|D	.|0.04	.|.	19.2757|19.2757	0.94030|0.94030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;327;327	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	T|H	375|327;327;289	.|ENSP00000264690:R327H;ENSP00000424469:R327H	.|ENSP00000264690:R327H	A|R	+|+	1|2	0|0	KLKB1|KLKB1	187409746|187409746	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.105000|0.105000	0.19272|0.19272	4.237000|4.237000	0.58681|0.58681	2.621000|2.621000	0.88768|0.88768	0.645000|0.645000	0.84053|0.84053	GCT|CGC		0.353	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
FAT1	2195	broad.mit.edu	37	4	187518086	187518086	+	Missense_Mutation	SNP	C	C	T	rs200185840		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187518086C>T	ENST00000441802.2	-	25	12817	c.12608G>A	c.(12607-12609)cGt>cAt	p.R4203H	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4203					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R4203H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCATCTTACGGCAGAGAAC	0.468										HNSCC(5;0.00058)																											p.R4203H	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12608A	4						.						106.0	105.0	105.0					4																	187518086		1910	4117	6027	187755080	SO:0001583	missense	2195	exon25			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12608G>A	4.37:g.187518086C>T	ENSP00000406229:p.Arg4203His		187755080	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517678	0.85495	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.74421	-0.84	5.09	4.22	0.49857	.	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.85199	0.1014	10	0.54805	T	0.06	.	14.1125	0.65132	0.0:0.926:0.0:0.074	.	4203	Q14517	FAT1_HUMAN	H	4203;4205	ENSP00000406229:R4203H	ENSP00000260147:R4205H	R	-	2	0	FAT1	187755080	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.927000	0.70080	2.652000	0.90054	0.555000	0.69702	CGT		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187518150	187518150	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187518150C>A	ENST00000441802.2	-	25	12753	c.12544G>T	c.(12544-12546)Gga>Tga	p.G4182*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4182					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4182*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTCCAATTCCTTCCGCCAAC	0.507										HNSCC(5;0.00058)																											p.G4182X	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G12544T	4						.						99.0	99.0	99.0					4																	187518150		1996	4180	6176	187755144	SO:0001587	stop_gained	2195	exon25			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12544G>T	4.37:g.187518150C>A	ENSP00000406229:p.Gly4182*		187755144	NM_005245		Nonsense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	53	20.916198	0.99935	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.86	4.86	0.63082	.	0.057884	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.1658	0.89724	0.0:1.0:0.0:0.0	.	.	.	.	X	4182;4184	.	ENSP00000260147:G4184X	G	-	1	0	FAT1	187755144	1.000000	0.71417	0.958000	0.39756	0.044000	0.14063	5.841000	0.69409	2.541000	0.85698	0.561000	0.74099	GGA		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187539055	187539055	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187539055C>A	ENST00000441802.2	-	10	8894	c.8685G>T	c.(8683-8685)aaG>aaT	p.K2895N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2895	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K2895N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATAGCTGGATCTTTTCACCAT	0.438										HNSCC(5;0.00058)																											p.K2895N	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8685T	4						.						170.0	158.0	162.0					4																	187539055		1999	4171	6170	187776049	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8685G>T	4.37:g.187539055C>A	ENSP00000406229:p.Lys2895Asn		187776049	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	4.252	0.045807	0.08196	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	4.86	4.01	0.46588	Cadherin (4);Cadherin-like (1);	0.157787	0.56097	D	0.000035	T	0.36358	0.0964	N	0.02973	-0.45	0.50632	D	0.999886	D	0.71674	0.998	D	0.68765	0.96	T	0.36841	-0.9731	10	0.56958	D	0.05	.	4.491	0.11813	0.0:0.7132:0.0:0.2868	.	2895	Q14517	FAT1_HUMAN	N	2895;2897	ENSP00000406229:K2895N	ENSP00000260147:K2897N	K	-	3	2	FAT1	187776049	1.000000	0.71417	0.942000	0.38095	0.063000	0.16089	1.767000	0.38501	2.682000	0.91365	0.650000	0.86243	AAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187539780	187539780	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187539780C>T	ENST00000441802.2	-	10	8169	c.7960G>A	c.(7960-7962)Gta>Ata	p.V2654I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2654	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2654I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTAGTGATTACGCCGGACAGT	0.418										HNSCC(5;0.00058)																											p.V2654I	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7960A	4						.						55.0	51.0	52.0					4																	187539780		1864	4112	5976	187776774	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7960G>A	4.37:g.187539780C>T	ENSP00000406229:p.Val2654Ile		187776774	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.427039	0.00186	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52983	0.64	5.2	-5.61	0.02489	Cadherin (4);Cadherin-like (1);	0.618536	0.17318	N	0.178610	T	0.21427	0.0516	N	0.21240	0.645	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.07481	-1.0770	10	0.28530	T	0.3	.	1.8082	0.03085	0.1257:0.3303:0.208:0.3359	.	2654	Q14517	FAT1_HUMAN	I	2654;2656	ENSP00000406229:V2654I	ENSP00000260147:V2656I	V	-	1	0	FAT1	187776774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.170000	0.00573	-1.095000	0.03050	0.655000	0.94253	GTA		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187542027	187542027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187542027C>A	ENST00000441802.2	-	10	5922	c.5713G>T	c.(5713-5715)Gat>Tat	p.D1905Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1905	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1905Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATCAGCATCTGTAGCATTT	0.423										HNSCC(5;0.00058)																											p.D1905Y	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5713T	4						.						98.0	102.0	100.0					4																	187542027		1948	4136	6084	187779021	SO:0001583	missense	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5713G>T	4.37:g.187542027C>A	ENSP00000406229:p.Asp1905Tyr		187779021	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852268	0.51270	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.73789	-0.78	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94616	0.7809	10	0.87932	D	0	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	1905	Q14517	FAT1_HUMAN	Y	1905;1907	ENSP00000406229:D1905Y	ENSP00000260147:D1907Y	D	-	1	0	FAT1	187779021	1.000000	0.71417	0.995000	0.50966	0.161000	0.22273	7.458000	0.80787	2.885000	0.99019	0.655000	0.94253	GAT		0.423	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187542151	187542151	+	Silent	SNP	C	C	T	rs375007936		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187542151C>T	ENST00000441802.2	-	10	5798	c.5589G>A	c.(5587-5589)gcG>gcA	p.A1863A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1863	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1863A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTTACATTCGCTGCATACT	0.393										HNSCC(5;0.00058)																											p.A1863A	Colon(197;1040 2055 4143 4984 49344)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5589A	4						.	C		0,3862		0,0,1931	67.0	67.0	67.0		5589	-7.0	0.9	4		67	1,8255		0,1,4127	no	coding-synonymous	FAT1	NM_005245.3		0,1,6058	TT,TC,CC		0.0121,0.0,0.0083		1863/4589	187542151	1,12117	1931	4128	6059	187779145	SO:0001819	synonymous_variant	2195	exon10			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5589G>A	4.37:g.187542151C>T			187779145	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187628907	187628907	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187628907T>G	ENST00000441802.2	-	2	2284	c.2075A>C	c.(2074-2076)aAa>aCa	p.K692T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	692					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K692T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGTGTAATTTATTTGCCTG	0.463										HNSCC(5;0.00058)																											p.K692T	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2075C	4						.						39.0	38.0	38.0					4																	187628907		1900	4123	6023	187865901	SO:0001583	missense	2195	exon2			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2075A>C	4.37:g.187628907T>G	ENSP00000406229:p.Lys692Thr		187865901	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	7.917	0.737666	0.15574	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.57107	0.42	5.39	1.54	0.23209	.	0.045508	0.85682	D	0.000000	T	0.52306	0.1726	M	0.73217	2.22	0.54753	D	0.999984	P	0.43938	0.822	P	0.46299	0.511	T	0.47686	-0.9098	10	0.21540	T	0.41	.	9.7042	0.40205	0.0:0.2027:0.0:0.7973	.	692	Q14517	FAT1_HUMAN	T	692	ENSP00000406229:K692T	ENSP00000260147:K692T	K	-	2	0	FAT1	187865901	0.959000	0.32827	0.270000	0.24601	0.034000	0.12701	1.536000	0.36072	0.486000	0.27676	0.528000	0.53228	AAA		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187630138	187630138	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:187630138C>T	ENST00000441802.2	-	2	1053	c.844G>A	c.(844-846)Gat>Aat	p.D282N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	282					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D282N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACCCTGATCGCAGTCATCC	0.498										HNSCC(5;0.00058)																											p.D282N	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G844A	4						.						273.0	269.0	271.0					4																	187630138		2151	4252	6403	187867132	SO:0001583	missense	2195	exon2			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.844G>A	4.37:g.187630138C>T	ENSP00000406229:p.Asp282Asn		187867132	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134473	0.56828	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.79247	-1.25;-1.25	5.04	5.04	0.67666	Cadherin (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91596	0.5291	10	0.66056	D	0.02	.	18.5673	0.91121	0.0:1.0:0.0:0.0	.	282	Q14517	FAT1_HUMAN	N	282	ENSP00000406229:D282N;ENSP00000423736:D282N	ENSP00000260147:D282N	D	-	1	0	FAT1	187867132	1.000000	0.71417	0.982000	0.44146	0.087000	0.18053	7.651000	0.83577	2.613000	0.88420	0.591000	0.81541	GAT		0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
TRIML2	205860	broad.mit.edu	37	4	189012779	189012779	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:189012779G>T	ENST00000512729.1	-	7	1286	c.912C>A	c.(910-912)gtC>gtA	p.V304V	TRIML2_ENST00000326754.3_Silent_p.V329V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.V304V(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAGGGGGGAAGACCCAGAGAG	0.567																																					p.V304V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912A	4						.						132.0	148.0	143.0					4																	189012779		2203	4300	6503	189249773	SO:0001819	synonymous_variant	205860	exon7			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.912C>A	4.37:g.189012779G>T			189249773	NM_173553	B7Z6J6	Silent	SNP	ENST00000512729.1	37	CCDS3850.1																																																																																				0.567	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
TRIML2	205860	broad.mit.edu	37	4	189022320	189022320	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:189022320G>T	ENST00000512729.1	-	3	594	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	TRIML2_ENST00000536972.1_Missense_Mutation_p.L124I|TRIML2_ENST00000326754.3_Missense_Mutation_p.L74I	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	74					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.L74I(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTCTCTGGAGATTCTGCTCA	0.428																																					p.L74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C220A	4						.						163.0	151.0	155.0					4																	189022320		2203	4300	6503	189259314	SO:0001583	missense	205860	exon3			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.220C>A	4.37:g.189022320G>T	ENSP00000422581:p.Leu74Ile		189259314	NM_173553	B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247902	0.22880	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.59906	0.23;0.26;3.18	5.15	-3.36	0.04913	.	1.483990	0.04356	N	0.356598	T	0.32010	0.0815	N	0.14661	0.345	0.09310	N	1	B;B;P	0.39809	0.437;0.437;0.689	B;B;B	0.28305	0.088;0.072;0.072	T	0.17961	-1.0352	10	0.21014	T	0.42	.	9.1186	0.36773	0.2197:0.1509:0.6294:0.0	.	124;74;74	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	I	74;74;124	ENSP00000422581:L74I;ENSP00000317498:L74I;ENSP00000441236:L124I	ENSP00000317498:L74I	L	-	1	0	TRIML2	189259314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.698000	0.05092	-0.669000	0.05289	-0.793000	0.03317	CTC		0.428	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
TRIML1	339976	broad.mit.edu	37	4	189063625	189063625	+	Missense_Mutation	SNP	G	G	A	rs112173910	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:189063625G>A	ENST00000332517.3	+	3	864	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	242					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E242K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTCGGCTTTCGAATCTCTTGA	0.383													G|||	58	0.0115815	0.0378	0.0115	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.0				p.E242K	Melanoma(31;213 1036 16579 23968 32372)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	4						.	G	LYS/GLU	167,4239	103.8+/-142.4	5,157,2041	67.0	74.0	72.0		724	3.6	0.0	4	dbSNP_132	72	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TRIML1	NM_178556.3	56	5,160,6338	AA,AG,GG		0.0349,3.7903,1.3071	possibly-damaging	242/469	189063625	170,12836	2203	4300	6503	189300619	SO:0001583	missense	339976	exon3			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.724G>A	4.37:g.189063625G>A	ENSP00000327738:p.Glu242Lys		189300619	NM_178556	Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	CCDS3851.1	31	0.014194139194139194	26	0.052845528455284556	5	0.013812154696132596	0	0.0	0	0.0	G	12.74	2.029493	0.35797	0.037903	3.49E-4	ENSG00000184108	ENST00000332517	T	0.05447	3.44	4.41	3.56	0.40772	.	0.247697	0.28914	N	0.013740	T	0.01092	0.0036	M	0.70275	2.135	0.09310	N	0.999999	P	0.36768	0.569	B	0.28139	0.086	T	0.23511	-1.0186	10	0.40728	T	0.16	-15.0726	10.5788	0.45244	0.0:0.1945:0.8055:0.0	.	242	Q8N9V2	TRIML_HUMAN	K	242	ENSP00000327738:E242K	ENSP00000327738:E242K	E	+	1	0	TRIML1	189300619	0.774000	0.28592	0.015000	0.15790	0.002000	0.02628	1.811000	0.38942	1.432000	0.47375	0.650000	0.86243	GAA		0.383	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
ZNF141	7700	broad.mit.edu	37	4	367454	367454	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:367454C>T	ENST00000240499.7	+	4	1377	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	410					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R410W(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GTCCACAGATCGGAGTCAACA	0.388																																					p.R410W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1228T	4						.						74.0	80.0	78.0					4																	367454		2203	4300	6503	357454	SO:0001583	missense	7700	exon4			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1228C>T	4.37:g.367454C>T	ENSP00000240499:p.Arg410Trp		357454	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305295	0.60305	.	.	ENSG00000131127	ENST00000240499	T	0.07567	3.18	1.24	0.227	0.15359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08133	0.0203	N	0.20845	0.615	0.09310	N	1	D	0.65815	0.995	P	0.54706	0.759	T	0.32428	-0.9907	8	.	.	.	.	3.3488	0.07145	0.0:0.4599:0.0:0.5401	.	410	Q15928	ZN141_HUMAN	W	410	ENSP00000240499:R410W	.	R	+	1	2	ZNF141	357454	0.000000	0.05858	0.030000	0.17652	0.920000	0.55202	-0.270000	0.08584	0.591000	0.29711	0.313000	0.20887	CGG		0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441	
ZNF721	170960	broad.mit.edu	37	4	435686	435686	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:435686C>A	ENST00000338977.5	-	2	2582	c.2534G>T	c.(2533-2535)aGa>aTa	p.R845I	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R857I|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	845					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.R627I(1)|p.R857I(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTAC	0.393																																					p.R857I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2570T	4						.						60.0	65.0	63.0					4																	435686		2115	4246	6361	425686	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2534G>T	4.37:g.435686C>A	ENSP00000340524:p.Arg845Ile		425686	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	10.65	1.411256	0.25465	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24908	1.83;1.83	0.499	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38241	0.1033	M	0.76574	2.34	0.29319	N	0.86748	D;D;D	0.64830	0.979;0.994;0.993	P;P;P	0.58928	0.52;0.848;0.764	T	0.26916	-1.0089	9	0.48119	T	0.1	.	3.513	0.07714	0.4439:0.5559:1.0E-4:1.0E-4	.	845;857;857	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	I	845;857	ENSP00000340524:R845I;ENSP00000428878:R857I	ENSP00000340524:R845I	R	-	2	0	ZNF721	425686	0.000000	0.05858	0.055000	0.19348	0.613000	0.37349	-0.121000	0.10643	0.519000	0.28406	0.194000	0.17425	AGA		0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	436441	436441	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:436441T>G	ENST00000338977.5	-	2	1827	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K605N|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	593					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.K375N(1)|p.K605N(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CAGTATGAATTTTCTTGTGTT	0.393																																					p.K605N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1815C	4						.						168.0	180.0	176.0					4																	436441		2061	4224	6285	426441	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1779A>C	4.37:g.436441T>G	ENSP00000340524:p.Lys593Asn		426441	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	11.40	1.627596	0.28978	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24723	1.84;1.84	1.28	-0.408	0.12381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15739	0.0379	N	0.25485	0.75	0.25759	N	0.984965	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.18366	-1.0339	9	0.54805	T	0.06	.	5.632	0.17516	0.0:0.0:0.2714:0.7285	.	593;605;605	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	593;605	ENSP00000340524:K593N;ENSP00000428878:K605N	ENSP00000340524:K593N	K	-	3	2	ZNF721	426441	0.000000	0.05858	0.019000	0.16419	0.038000	0.13279	-1.741000	0.01837	-1.220000	0.02594	-1.433000	0.01084	AAA		0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	436526	436526	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:436526C>A	ENST00000338977.5	-	2	1742	c.1694G>T	c.(1693-1695)aGa>aTa	p.R565I	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R577I|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	565					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.R577I(1)|p.R347I(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTAC	0.403																																					p.R577I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1730T	4						.						115.0	127.0	123.0					4																	436526		2128	4258	6386	426526	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1694G>T	4.37:g.436526C>A	ENSP00000340524:p.Arg565Ile		426526	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	13.94	2.387985	0.42308	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24908	1.83;1.83	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39358	0.1075	M	0.72479	2.2	0.42561	D	0.993149	D;D;D	0.69078	0.997;0.991;0.988	P;P;P	0.58928	0.848;0.848;0.764	T	0.24835	-1.0149	9	0.46703	T	0.11	.	8.0662	0.30661	0.0:1.0:0.0:0.0	.	565;577;577	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	I	565;577	ENSP00000340524:R565I;ENSP00000428878:R577I	ENSP00000340524:R565I	R	-	2	0	ZNF721	426526	0.000000	0.05858	0.014000	0.15608	0.285000	0.27093	-0.462000	0.06704	0.672000	0.31204	0.184000	0.17185	AGA		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	437366	437366	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:437366C>A	ENST00000338977.5	-	2	902	c.854G>T	c.(853-855)aGa>aTa	p.R285I	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R297I|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R67I(1)|p.R297I(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTTT	0.378																																					p.R297I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G890T	4						.						57.0	62.0	61.0					4																	437366		2055	4239	6294	427366	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.854G>T	4.37:g.437366C>A	ENSP00000340524:p.Arg285Ile		427366	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	7.303	0.613463	0.14066	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24908	1.83;1.83	1.29	0.253	0.15551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42154	0.1190	M	0.73753	2.245	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.995	D;D;D	0.76071	0.987;0.987;0.978	T	0.21381	-1.0247	9	0.45353	T	0.12	.	2.8764	0.05632	0.0:0.4858:0.2908:0.2233	.	285;297;297	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	I	285;297	ENSP00000340524:R285I;ENSP00000428878:R297I	ENSP00000340524:R285I	R	-	2	0	ZNF721	427366	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.002000	0.12924	-0.188000	0.10499	0.194000	0.17425	AGA		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	437785	437785	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:437785T>G	ENST00000338977.5	-	2	483	c.435A>C	c.(433-435)aaA>aaC	p.K145N	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K157N|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K157N(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CAGTATGAATTTTCTTGTGTT	0.388																																					p.K157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A471C	4						.						150.0	161.0	158.0					4																	437785		2135	4270	6405	427785	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.435A>C	4.37:g.437785T>G	ENSP00000340524:p.Lys145Asn		427785	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	11.02	1.514828	0.27123	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24723	1.84;1.84	0.75	-0.75	0.11080	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32793	0.0841	L	0.41710	1.295	0.09310	N	1	D;P;P	0.62365	0.991;0.862;0.833	D;P;P	0.76071	0.987;0.684;0.556	T	0.17319	-1.0373	9	0.66056	D	0.02	.	2.1843	0.03882	0.0:0.2684:0.322:0.4096	.	145;157;157	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	145;157	ENSP00000340524:K145N;ENSP00000428878:K157N	ENSP00000340524:K145N	K	-	3	2	ZNF721	427785	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-1.687000	0.01927	-0.278000	0.09180	0.172000	0.16884	AAA		0.388	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
PIGG	54872	broad.mit.edu	37	4	524241	524241	+	Missense_Mutation	SNP	C	C	T	rs369841712		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:524241C>T	ENST00000453061.2	+	11	2384	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	PIGG_ENST00000383028.4_Missense_Mutation_p.R627C|PIGG_ENST00000504346.1_Missense_Mutation_p.R671C|PIGG_ENST00000310340.5_Missense_Mutation_p.R752C|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	760					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.R752C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TATTGAAGCTCGTTTTGTTTA	0.368																																					p.R752C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2254T	4						.						110.0	111.0	111.0					4																	524241		2203	4300	6503	514241	SO:0001583	missense	54872	exon11				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2278C>T	4.37:g.524241C>T	ENSP00000415203:p.Arg760Cys		514241	NM_017733	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746023	0.89663	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.12039	3.05;3.05;2.73;2.72	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.994	T	0.03268	-1.1054	10	0.36615	T	0.2	-16.4773	17.5138	0.87767	0.0:1.0:0.0:0.0	.	627;760;752	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	C	752;760;671;627	ENSP00000311750:R752C;ENSP00000415203:R760C;ENSP00000424800:R671C;ENSP00000372494:R627C	ENSP00000311750:R752C	R	+	1	0	PIGG	514241	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.327000	0.65881	2.804000	0.96469	0.655000	0.94253	CGT		0.368	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	
PIGG	54872	broad.mit.edu	37	4	533025	533025	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:533025C>A	ENST00000453061.2	+	13	2925	c.2819C>A	c.(2818-2820)tCt>tAt	p.S940Y	PIGG_ENST00000383028.4_Missense_Mutation_p.S807Y|PIGG_ENST00000504346.1_Missense_Mutation_p.S851Y|PIGG_ENST00000310340.5_Missense_Mutation_p.S932Y|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	940					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.S932Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTGGTGACATCTCTGCGTTAT	0.403																																					p.S932Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2795A	4						.						192.0	169.0	177.0					4																	533025		2203	4300	6503	523025	SO:0001583	missense	54872	exon13				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.2819C>A	4.37:g.533025C>A	ENSP00000415203:p.Ser940Tyr		523025	NM_017733	B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275766	0.40294	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000453065	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.91	5.91	0.95273	.	0.487180	0.22098	N	0.064645	T	0.49695	0.1572	L	0.50333	1.59	0.42899	D	0.994222	D;D;D	0.56287	0.975;0.958;0.975	P;P;P	0.56514	0.8;0.456;0.658	T	0.35895	-0.9770	10	0.02654	T	1	-15.925	17.7902	0.88550	0.0:1.0:0.0:0.0	.	807;940;932	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	Y	932;940;851;807;96	ENSP00000311750:S932Y;ENSP00000415203:S940Y;ENSP00000424800:S851Y;ENSP00000372494:S807Y	ENSP00000311750:S932Y	S	+	2	0	PIGG	523025	0.710000	0.27896	0.662000	0.29724	0.781000	0.44180	3.109000	0.50345	2.813000	0.96785	0.655000	0.94253	TCT		0.403	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733	
WHSC1	7468	broad.mit.edu	37	4	1952853	1952853	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:1952853G>A	ENST00000382895.3	+	12	2367	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	WHSC1_ENST00000508803.1_Missense_Mutation_p.E646K|WHSC1_ENST00000382892.2_Missense_Mutation_p.E646K|WHSC1_ENST00000382891.5_Missense_Mutation_p.E646K|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_5'Flank	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	646					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E646K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAGTGCAGACGAAACACAAAC	0.532			T	IGH@	MM																																p.E646K			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936A	4						.						126.0	105.0	112.0					4																	1952853		2203	4300	6503	1922651	SO:0001583	missense	7468	exon11			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1936G>A	4.37:g.1952853G>A	ENSP00000372351:p.Glu646Lys		1922651	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.537515|4.537515	0.85917|0.85917	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895|ENST00000514329	D;D;D;D|.	0.95756|.	-3.8;-3.8;-3.8;-3.8|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.67859|0.67859	0.2938|0.2938	L|L	0.41824|0.41824	1.3|1.3	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.50537|.	0.643|.	T|T	0.61865|0.61865	-0.6975|-0.6975	10|5	0.15952|.	T|.	0.53|.	.|.	19.9832|19.9832	0.97338|0.97338	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	646|.	O96028|.	NSD2_HUMAN|.	K|Q	646|58	ENSP00000423972:E646K;ENSP00000372347:E646K;ENSP00000372348:E646K;ENSP00000372351:E646K|.	ENSP00000372347:E646K|.	E|R	+|+	1|2	0|0	WHSC1|WHSC1	1922651|1922651	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.862000|0.862000	0.49288|0.49288	7.049000|7.049000	0.76613|0.76613	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.532	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
POLN	353497	broad.mit.edu	37	4	2209995	2209995	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2209995T>G	ENST00000511885.2	-	5	786	c.433A>C	c.(433-435)Aat>Cat	p.N145H	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.N145H			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	145					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.N145H(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTTCATTATTTATATTCTCC	0.284								DNA polymerases (catalytic subunits)																													p.N145H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A433C	4						.						55.0	58.0	57.0					4																	2209995		2199	4297	6496	2179793	SO:0001583	missense	353497	exon3			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.433A>C	4.37:g.2209995T>G	ENSP00000435506:p.Asn145His		2179793	NM_181808	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507706	0.64410	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.04758	3.56;3.56	5.15	0.188	0.15114	.	1.704370	0.02675	N	0.109044	T	0.09949	0.0244	L	0.29908	0.895	0.09310	N	1	D;D	0.61080	0.989;0.989	P;P	0.57283	0.817;0.781	T	0.27502	-1.0072	10	0.54805	T	0.06	-1.5738	7.0534	0.25085	0.0:0.4248:0.0:0.5752	.	145;145	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	H	145	ENSP00000435506:N145H;ENSP00000372316:N145H	ENSP00000372316:N145H	N	-	1	0	POLN	2179793	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	0.103000	0.15292	0.025000	0.15241	0.459000	0.35465	AAT		0.284	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	
HAUS3	79441	broad.mit.edu	37	4	2240461	2240461	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2240461T>G	ENST00000243706.4	-	3	1448	c.1219A>C	c.(1219-1221)Aat>Cat	p.N407H	HAUS3_ENST00000443786.2_Missense_Mutation_p.N407H|HAUS3_ENST00000506763.1_Missense_Mutation_p.N407H|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	407					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.N407H(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGAACCAAATTTTCAAGTTGA	0.299																																					p.N407H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1219C	4						.						106.0	106.0	106.0					4																	2240461		2202	4299	6501	2210259	SO:0001583	missense	79441	exon3			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1219A>C	4.37:g.2240461T>G	ENSP00000243706:p.Asn407His		2210259	NM_024511	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.384454	0.61845	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	.	0.445839	0.24016	U	0.042339	T	0.49949	0.1587	L	0.47716	1.5	0.27965	N	0.936613	P;P	0.42993	0.797;0.797	P;P	0.50617	0.646;0.646	T	0.48714	-0.9011	10	0.45353	T	0.12	-21.6335	15.4439	0.75213	0.0:0.0:0.0:1.0	.	407;407	B4DF64;Q68CZ6	.;HAUS3_HUMAN	H	407	ENSP00000243706:N407H;ENSP00000392903:N407H	ENSP00000243706:N407H	N	-	1	0	HAUS3	2210259	0.998000	0.40836	0.932000	0.37286	0.457000	0.32468	4.104000	0.57790	2.233000	0.73108	0.482000	0.46254	AAT		0.299	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511	
HAUS3	79441	broad.mit.edu	37	4	2242484	2242484	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2242484G>T	ENST00000243706.4	-	2	419	c.190C>A	c.(190-192)Ctt>Att	p.L64I	HAUS3_ENST00000443786.2_Missense_Mutation_p.L64I|HAUS3_ENST00000506763.1_Missense_Mutation_p.L64I|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	64					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L64I(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GATTTCTGAAGAATGCTAAAA	0.408																																					p.L64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190A	4						.						105.0	102.0	103.0					4																	2242484		2203	4300	6503	2212282	SO:0001583	missense	79441	exon2			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.190C>A	4.37:g.2242484G>T	ENSP00000243706:p.Leu64Ile		2212282	NM_024511	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598743	0.87055	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.69435	-0.4;-0.4	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000005	D	0.82628	0.5078	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84117	0.0404	10	0.51188	T	0.08	-40.6406	17.5164	0.87775	0.0:0.0:1.0:0.0	.	64;64	B4DF64;Q68CZ6	.;HAUS3_HUMAN	I	64	ENSP00000243706:L64I;ENSP00000392903:L64I	ENSP00000243706:L64I	L	-	1	0	HAUS3	2212282	1.000000	0.71417	0.724000	0.30704	0.978000	0.69477	6.161000	0.71868	2.432000	0.82394	0.561000	0.74099	CTT		0.408	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511	
FAM193A	8603	broad.mit.edu	37	4	2648550	2648550	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2648550C>T	ENST00000324666.5	+	5	780	c.429C>T	c.(427-429)gtC>gtT	p.V143V	FAM193A_ENST00000382839.3_Silent_p.V143V|FAM193A_ENST00000502458.1_Silent_p.V143V|FAM193A_ENST00000505311.1_Silent_p.V143V|FAM193A_ENST00000545951.1_Silent_p.V143V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	143								p.V143V(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACGCCTATGTCGACGAGCAGG	0.622																																					p.V143V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C429T	4						.						65.0	57.0	60.0					4																	2648550		2203	4300	6503	2618348	SO:0001819	synonymous_variant	8603	exon5			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.429C>T	4.37:g.2648550C>T			2618348	NM_003704	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1																																																																																				0.622	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
SH3BP2	6452	broad.mit.edu	37	4	2834735	2834735	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2834735G>A	ENST00000356331.5	+	12	1768	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	SH3BP2_ENST00000503393.2_Missense_Mutation_p.E560K|SH3BP2_ENST00000511747.1_Missense_Mutation_p.E503K|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E503K|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E503K|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E531K	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	503	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)	p.E503K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TGTGTGGGACGAAACCTCTAA	0.622									Cherubism																												p.E560K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1678A	4						.						160.0	133.0	142.0					4																	2834735		2203	4300	6503	2804533	SO:0001583	missense	6452	exon12	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1507G>A	4.37:g.2834735G>A	ENSP00000348685:p.Glu503Lys		2804533	NM_001145856	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236561	0.22711	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.73	4.02	0.46733	SH2 motif (4);	0.694983	0.15105	N	0.280274	T	0.80874	0.4707	L	0.34521	1.04	0.19300	N	0.999978	B;B;B;B	0.24618	0.107;0.025;0.078;0.052	B;B;B;B	0.20184	0.028;0.009;0.005;0.011	T	0.67669	-0.5611	10	0.34782	T	0.22	-7.6615	6.0541	0.19802	0.2215:0.1373:0.6412:0.0	.	531;478;560;503	B4DT04;Q6ZVU3;D6R919;P78314	.;.;.;3BP2_HUMAN	K	503;531;503;503;560;503	ENSP00000409746:E503K;ENSP00000388152:E531K;ENSP00000403231:E503K;ENSP00000424846:E503K;ENSP00000422168:E560K;ENSP00000348685:E503K	ENSP00000348685:E503K	E	+	1	0	SH3BP2	2804533	0.036000	0.19791	0.025000	0.17156	0.069000	0.16628	1.565000	0.36386	0.797000	0.33971	0.655000	0.94253	GAA		0.622	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023	
MFSD10	10227	broad.mit.edu	37	4	2934340	2934340	+	Missense_Mutation	SNP	C	C	T	rs201068903		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2934340C>T	ENST00000329687.4	-	4	1052	c.518G>A	c.(517-519)cGc>cAc	p.R173H	MFSD10_ENST00000514800.1_Missense_Mutation_p.R173H|MFSD10_ENST00000508221.1_Missense_Mutation_p.R173H|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000355443.4_Missense_Mutation_p.R173H|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.R173H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	173					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)	p.R173H(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCTTGACTGCGGGCCAGAGG	0.632																																					p.R173H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	4						.						81.0	92.0	89.0					4																	2934340		2203	4300	6503	2904138	SO:0001583	missense	10227	exon4			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.518G>A	4.37:g.2934340C>T	ENSP00000332646:p.Arg173His		2904138	NM_001120	Q07706	Missense_Mutation	SNP	ENST00000329687.4	37	CCDS3365.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184696	0.57909	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.7	3.86	0.44501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.113365	0.64402	N	0.000014	T	0.72112	0.3420	M	0.86573	2.825	0.58432	D	0.999999	B;B;B;B	0.33103	0.397;0.348;0.231;0.139	B;B;B;B	0.37989	0.262;0.243;0.146;0.179	T	0.73658	-0.3913	10	0.54805	T	0.06	-15.7931	11.7742	0.51977	0.0:0.9116:0.0:0.0884	.	173;173;173;173	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	H	173	ENSP00000426907:R173H;ENSP00000347619:R173H;ENSP00000332646:R173H;ENSP00000425757:R173H;ENSP00000423402:R173H	ENSP00000332646:R173H	R	-	2	0	MFSD10	2904138	0.995000	0.38212	0.996000	0.52242	0.806000	0.45545	2.954000	0.49113	0.985000	0.38656	0.655000	0.94253	CGC		0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120	
NOP14	8602	broad.mit.edu	37	4	2945868	2945868	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2945868A>C	ENST00000314262.6	-	13	1871	c.1823T>G	c.(1822-1824)tTt>tGt	p.F608C	NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.F608C|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.F608C|NOP14_ENST00000398071.4_Missense_Mutation_p.F608C|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	608					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.F608C(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCAGGTATAAACCTCTGGGA	0.468																																					p.F608C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1823G	4						.						73.0	71.0	72.0					4																	2945868		2203	4300	6503	2915666	SO:0001583	missense	8602	exon13			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1823T>G	4.37:g.2945868A>C	ENSP00000315674:p.Phe608Cys		2915666	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855331	0.71719	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.977;0.983	T	0.74019	-0.3799	10	0.87932	D	0	-16.0	15.5419	0.76057	1.0:0.0:0.0:0.0	.	401;608;608	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	C	608;608;608;608;507	ENSP00000405068:F608C;ENSP00000315674:F608C;ENSP00000427415:F608C;ENSP00000381146:F608C	ENSP00000315674:F608C	F	-	2	0	NOP14	2915666	1.000000	0.71417	0.903000	0.35520	0.693000	0.40251	8.591000	0.90824	2.078000	0.62432	0.459000	0.35465	TTT		0.468	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
NOP14	8602	broad.mit.edu	37	4	2952960	2952960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:2952960G>A	ENST00000314262.6	-	7	931	c.883C>T	c.(883-885)Cga>Tga	p.R295*	NOP14_ENST00000502735.1_Nonsense_Mutation_p.R295*|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000416614.2_Nonsense_Mutation_p.R295*|NOP14_ENST00000398071.4_Nonsense_Mutation_p.R295*|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	295					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.R295*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AGCATTCTTCGAAGTCTCTCA	0.483																																					p.R295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C883T	4						.						162.0	153.0	156.0					4																	2952960		2203	4300	6503	2922758	SO:0001587	stop_gained	8602	exon7			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.883C>T	4.37:g.2952960G>A	ENSP00000315674:p.Arg295*		2922758	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Nonsense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263216	0.95399	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	.	.	.	5.4	5.4	0.78164	.	0.242526	0.39274	N	0.001405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.5758	16.9489	0.86239	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;295;194	.	ENSP00000315674:R295X	R	-	1	2	NOP14	2922758	0.999000	0.42202	0.015000	0.15790	0.494000	0.33585	4.977000	0.63792	2.533000	0.85409	0.557000	0.71058	CGA		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
HTT	3064	broad.mit.edu	37	4	3088673	3088673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:3088673G>T	ENST00000355072.5	+	2	416	c.271G>T	c.(271-273)Gaa>Taa	p.E91*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	91					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.E91*(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TAGAAAGAAAGAACTTTCAGC	0.353																																					p.E91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G271T	4						.						59.0	57.0	57.0					4																	3088673		1815	4069	5884	3058471	SO:0001587	stop_gained	3064	exon2			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.271G>T	4.37:g.3088673G>T	ENSP00000347184:p.Glu91*		3058471	NM_002111	Q9UQB7	Nonsense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	38	7.143070	0.98092	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.35	5.35	0.76521	.	0.094927	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0226	0.92921	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000347184:E91X	E	+	1	0	HTT	3058471	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.893000	0.87330	2.647000	0.89833	0.655000	0.94253	GAA		0.353	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	broad.mit.edu	37	4	3176738	3176738	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:3176738G>A	ENST00000355072.5	+	33	4456	c.4311G>A	c.(4309-4311)acG>acA	p.T1437T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1437	Poly-Thr.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.T1437T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AACAGTACACGACTACAACAT	0.348																																					p.T1437T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4311A	4						.						124.0	109.0	113.0					4																	3176738		1838	4090	5928	3146536	SO:0001819	synonymous_variant	3064	exon33			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4311G>A	4.37:g.3176738G>A			3146536	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.348	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	broad.mit.edu	37	4	3182271	3182271	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:3182271G>A	ENST00000355072.5	+	36	4787	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1548					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D1548N(2)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATAGTCCACGACCTCTTTGT	0.443																																					p.D1548N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4642A	4						.						99.0	99.0	99.0					4																	3182271		1880	4100	5980	3152069	SO:0001583	missense	3064	exon36			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4642G>A	4.37:g.3182271G>A	ENSP00000347184:p.Asp1548Asn		3152069	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732026	0.96856	.	.	ENSG00000197386	ENST00000355072	T	0.06294	3.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00028	-1.2298	10	0.45353	T	0.12	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1548	P42858	HD_HUMAN	N	1548	ENSP00000347184:D1548N	ENSP00000347184:D1548N	D	+	1	0	HTT	3152069	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	GAC		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
OTOP1	133060	broad.mit.edu	37	4	4199541	4199541	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:4199541C>A	ENST00000296358.4	-	5	1044	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	340					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.K340N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTCTTGGTCTTGGAGCGCC	0.582																																					p.K340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1020T	4						.						50.0	49.0	49.0					4																	4199541		2203	4300	6503	4250442	SO:0001583	missense	133060	exon5			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1020G>T	4.37:g.4199541C>A	ENSP00000296358:p.Lys340Asn		4250442	NM_177998	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854726	0.17106	.	.	ENSG00000163982	ENST00000296358	T	0.23147	1.92	4.8	-0.22	0.13130	.	0.682474	0.14445	N	0.319180	T	0.40067	0.1102	L	0.57536	1.79	0.28810	N	0.898294	D	0.65815	0.995	D	0.65874	0.939	T	0.31110	-0.9955	10	0.35671	T	0.21	0.4019	10.5817	0.45259	0.0:0.4722:0.0:0.5278	.	340	Q7RTM1	OTOP1_HUMAN	N	340	ENSP00000296358:K340N	ENSP00000296358:K340N	K	-	3	2	OTOP1	4250442	0.000000	0.05858	0.252000	0.24328	0.190000	0.23558	-0.420000	0.07062	-0.372000	0.07992	0.404000	0.27445	AAG		0.582	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
OTOP1	133060	broad.mit.edu	37	4	4199685	4199685	+	Silent	SNP	G	G	A	rs373873960		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:4199685G>A	ENST00000296358.4	-	5	900	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	292					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.I292I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTTGCGCCCGATGTTCTTCC	0.567																																					p.I292I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	4						.						76.0	68.0	71.0					4																	4199685		2203	4300	6503	4250586	SO:0001819	synonymous_variant	133060	exon5			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.876C>T	4.37:g.4199685G>A			4250586	NM_177998	A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
LYAR	55646	broad.mit.edu	37	4	4281195	4281195	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:4281195G>T	ENST00000343470.4	-	6	648	c.408C>A	c.(406-408)atC>atA	p.I136I	LYAR_ENST00000452476.1_Silent_p.I136I	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	136						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I136I(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTCAGAAAAGATATTCCACA	0.318																																					p.I136I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408A	4						.						62.0	62.0	62.0					4																	4281195		2203	4300	6503	4332096	SO:0001819	synonymous_variant	55646	exon6			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.408C>A	4.37:g.4281195G>T			4332096	NM_001145725	D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	ENST00000343470.4	37	CCDS3374.1																																																																																				0.318	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816	
STX18	53407	broad.mit.edu	37	4	4426931	4426931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:4426931G>A	ENST00000306200.2	-	8	784	c.721C>T	c.(721-723)Cga>Tga	p.R241*	STX18_ENST00000505286.1_Nonsense_Mutation_p.R241*	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	241					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R241*(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CCAATTAGTCGCTGATTTTCC	0.443																																					p.R241X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C721T	4						.						150.0	124.0	133.0					4																	4426931		2203	4300	6503	4477832	SO:0001587	stop_gained	53407	exon8			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.721C>T	4.37:g.4426931G>A	ENSP00000305810:p.Arg241*		4477832	NM_016930	Q596L3|Q5TZP5	Nonsense_Mutation	SNP	ENST00000306200.2	37	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658307	0.88154	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	.	.	.	5.3	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.0885	14.9737	0.71254	0.0:0.0:0.7837:0.2163	.	.	.	.	X	241;241;160;160	.	ENSP00000305810:R241X	R	-	1	2	STX18	4477832	1.000000	0.71417	0.996000	0.52242	0.592000	0.36648	2.298000	0.43602	2.478000	0.83669	0.563000	0.77884	CGA		0.443	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1		
EVC2	132884	broad.mit.edu	37	4	5630288	5630288	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:5630288C>A	ENST00000344408.5	-	12	1937	c.1884G>T	c.(1882-1884)gaG>gaT	p.E628D	EVC2_ENST00000310917.2_Missense_Mutation_p.E548D|EVC2_ENST00000344938.1_Missense_Mutation_p.E628D	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	628					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E628D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGTGGTACCTCTCGTGCTTCT	0.502																																					p.E548D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1644T	4						.						108.0	89.0	95.0					4																	5630288		2203	4300	6503	5681189	SO:0001583	missense	132884	exon12			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.1884G>T	4.37:g.5630288C>A	ENSP00000342144:p.Glu628Asp		5681189	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464796	0.43736	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.79352	-1.26;-1.26;-1.26	4.27	4.27	0.50696	.	0.062767	0.64402	D	0.000004	D	0.84392	0.5462	M	0.69823	2.125	0.39625	D	0.970096	D	0.71674	0.998	D	0.69654	0.965	D	0.84752	0.0757	10	0.46703	T	0.11	-20.5636	9.7417	0.40422	0.0:0.8924:0.0:0.1076	.	628	Q86UK5	LBN_HUMAN	D	628;548;628	ENSP00000339954:E628D;ENSP00000311683:E548D;ENSP00000342144:E628D	ENSP00000311683:E548D	E	-	3	2	EVC2	5681189	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	2.449000	0.44935	2.374000	0.81015	0.484000	0.47621	GAG		0.502	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
CRMP1	1400	broad.mit.edu	37	4	5851133	5851133	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:5851133C>A	ENST00000397890.2	-	6	821	c.607G>T	c.(607-609)Gat>Tat	p.D203Y	CRMP1_ENST00000512574.1_Missense_Mutation_p.D201Y|CRMP1_ENST00000324989.7_Missense_Mutation_p.D317Y|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	203					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D317Y(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GCTATCAAATCTCCATTTTCT	0.443																																					p.D203Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607T	4						.						101.0	93.0	95.0					4																	5851133		2203	4300	6503	5902034	SO:0001583	missense	1400	exon6			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.607G>T	4.37:g.5851133C>A	ENSP00000380987:p.Asp203Tyr		5902034	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927565	0.73327	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.90197	-2.63;-2.63;-2.63	4.88	4.88	0.63580	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.997;0.993;1.0;1.0	P;P;D;D	0.75484	0.878;0.707;0.97;0.986	D	0.96234	0.9170	10	0.87932	D	0	-16.7637	17.2084	0.86924	0.0:1.0:0.0:0.0	.	317;201;203;140	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	Y	317;203;203;201	ENSP00000321606:D317Y;ENSP00000380987:D203Y;ENSP00000425742:D201Y	ENSP00000321606:D317Y	D	-	1	0	CRMP1	5902034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.165000	0.77544	2.540000	0.85666	0.603000	0.83216	GAT		0.443	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
JAKMIP1	152789	broad.mit.edu	37	4	6066618	6066618	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:6066618C>A	ENST00000282924.5	-	9	1905	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D309Y|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.D474Y|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D289Y|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D474Y	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	474	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.D474Y(1)		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						TCGTCCAAGTCTTCTTCGGGC	0.537																																					p.D474Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1420T	4						.						163.0	136.0	145.0					4																	6066618		2203	4300	6503	6117519	SO:0001583	missense	152789	exon9			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.1420G>T	4.37:g.6066618C>A	ENSP00000282924:p.Asp474Tyr		6117519	NM_144720	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524736	0.85600	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.39997	1.59;1.05;1.56;1.56;1.15	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000001	T	0.65770	0.2723	M	0.77313	2.365	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.999	T	0.71826	-0.4475	10	0.87932	D	0	.	16.0347	0.80617	0.0:1.0:0.0:0.0	.	309;474;289;474;474	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	Y	474;289;474;366;474;474;309	ENSP00000386711:D474Y;ENSP00000387042:D289Y;ENSP00000282924:D474Y;ENSP00000386925:D474Y;ENSP00000386745:D309Y	ENSP00000282924:D474Y	D	-	1	0	JAKMIP1	6117519	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	7.140000	0.77322	2.202000	0.70862	0.561000	0.74099	GAC		0.537	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
KIAA0232	9778	broad.mit.edu	37	4	6864235	6864235	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:6864235G>T	ENST00000307659.5	+	7	2581	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.R709I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	709							ATP binding (GO:0005524)	p.R709I(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTTTCAACAAGAACTTGTAGT	0.348																																					p.R709I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2126T	4						.						66.0	61.0	62.0					4																	6864235		1840	4090	5930	6915136	SO:0001583	missense	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2126G>T	4.37:g.6864235G>T	ENSP00000303928:p.Arg709Ile		6915136	NM_014743	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362386	0.82353	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80254	-0.1459	9	0.87932	D	0	-24.0831	19.8991	0.96978	0.0:0.0:1.0:0.0	.	709	Q92628	K0232_HUMAN	I	709	.	ENSP00000303928:R709I	R	+	2	0	KIAA0232	6915136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.306000	0.96204	2.708000	0.92522	0.655000	0.94253	AGA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
KIAA0232	9778	broad.mit.edu	37	4	6864327	6864327	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:6864327G>A	ENST00000307659.5	+	7	2673	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E740K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	740							ATP binding (GO:0005524)	p.E740K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GTTTAATGCCGAAGATATTAA	0.343																																					p.E740K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2218A	4						.						62.0	58.0	59.0					4																	6864327		1828	4075	5903	6915228	SO:0001583	missense	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2218G>A	4.37:g.6864327G>A	ENSP00000303928:p.Glu740Lys		6915228	NM_014743	A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694496	0.68386	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.64	5.64	0.86602	.	0.254585	0.44902	N	0.000420	T	0.58736	0.2143	M	0.64997	1.995	0.80722	D	1	D	0.53151	0.958	B	0.40410	0.328	T	0.66555	-0.5894	9	0.72032	D	0.01	-14.9145	19.6918	0.96005	0.0:0.0:1.0:0.0	.	740	Q92628	K0232_HUMAN	K	740	.	ENSP00000303928:E740K	E	+	1	0	KIAA0232	6915228	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	9.386000	0.97228	2.660000	0.90430	0.591000	0.81541	GAA		0.343	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
KIAA0232	9778	broad.mit.edu	37	4	6864665	6864665	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:6864665G>A	ENST00000307659.5	+	7	3011	c.2556G>A	c.(2554-2556)tcG>tcA	p.S852S	KIAA0232_ENST00000425103.1_Silent_p.S852S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	852							ATP binding (GO:0005524)	p.S852S(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTGTTTTCGGCAGATGTAA	0.453																																					p.S852S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2556A	4						.						67.0	69.0	68.0					4																	6864665		1989	4191	6180	6915566	SO:0001819	synonymous_variant	9778	exon7			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2556G>A	4.37:g.6864665G>A			6915566	NM_014743	A7E2D2	Silent	SNP	ENST00000307659.5	37	CCDS43209.1																																																																																				0.453	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
CCDC96	257236	broad.mit.edu	37	4	7043265	7043265	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:7043265G>A	ENST00000310085.4	-	1	1463	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	467								p.I467I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTGGGCCTCGATTTCTGCCA	0.552																																					p.I467I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1401T	4						.						214.0	212.0	213.0					4																	7043265		2203	4300	6503	7094166	SO:0001819	synonymous_variant	257236	exon1			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1401C>T	4.37:g.7043265G>A			7094166	NM_153376	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																				0.552	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
SORCS2	57537	broad.mit.edu	37	4	7398032	7398032	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:7398032G>A	ENST00000507866.2	+	2	607	c.498G>A	c.(496-498)acG>acA	p.T166T	SORCS2_ENST00000329016.9_5'UTR|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	166					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.T16T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGATCCTGACGAAGTACTACC	0.512																																					p.T166T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G498A	4						.						125.0	121.0	122.0					4																	7398032		2002	4178	6180	7448933	SO:0001819	synonymous_variant	57537	exon2			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.498G>A	4.37:g.7398032G>A			7448933	NM_020777	Q9P2L7	Silent	SNP	ENST00000507866.2	37	CCDS47008.1																																																																																				0.512	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	
SORCS2	57537	broad.mit.edu	37	4	7717037	7717037	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:7717037G>T	ENST00000507866.2	+	17	2360	c.2251G>T	c.(2251-2253)Ggg>Tgg	p.G751W	SORCS2_ENST00000329016.9_Splice_Site_p.G579W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	751					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G601W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGCAGCCTTGGGTGAGTGTG	0.627																																					p.G751W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2251T	4						.						69.0	75.0	73.0					4																	7717037		1995	4148	6143	7767937	SO:0001630	splice_region_variant	57537	exon17			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2252+1G>T	4.37:g.7717037G>T			7767937	NM_020777	Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970346	0.74246	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.35421	1.31;1.43	3.71	3.71	0.42584	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75747	-0.3209	10	0.87932	D	0	.	16.0467	0.80725	0.0:0.0:1.0:0.0	.	579;751	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	751;579	ENSP00000422185:G751W;ENSP00000329124:G579W	ENSP00000329124:G579W	G	+	1	0	SORCS2	7767937	1.000000	0.71417	0.991000	0.47740	0.845000	0.48019	7.655000	0.83696	2.064000	0.61679	0.655000	0.94253	GGG		0.627	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777	Missense_Mutation
HTRA3	94031	broad.mit.edu	37	4	8305989	8305989	+	Silent	SNP	G	G	A	rs145508993		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:8305989G>A	ENST00000307358.2	+	8	1383	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	393	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P393P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AGGTTGCGCCGAATTCACCTT	0.597																																					p.P393P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1179A	4						.	A		1,4405	825.8+/-416.5	0,1,2202	68.0	68.0	68.0		1179	-9.1	0.0	4	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	HTRA3	NM_053044.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		393/454	8305989	1,13005	2203	4300	6503	8356889	SO:0001819	synonymous_variant	94031	exon8			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1179G>A	4.37:g.8305989G>A			8356889	NM_053044	Q7Z7A2	Silent	SNP	ENST00000307358.2	37	CCDS3400.1																																																																																				0.597	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044	
DRD5	1816	broad.mit.edu	37	4	9784494	9784494	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:9784494G>A	ENST00000304374.2	+	1	1237	c.841G>A	c.(841-843)Gac>Aac	p.D281N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	281					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D281N(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGCGCGCCCGACACCAGCCT	0.632																																					p.D281N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G841A	4						.						27.0	26.0	27.0					4																	9784494		2145	4237	6382	9393592	SO:0001583	missense	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.841G>A	4.37:g.9784494G>A	ENSP00000306129:p.Asp281Asn		9393592	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	9.675	1.147721	0.21288	.	.	ENSG00000169676	ENST00000304374	T	0.65916	-0.18	4.31	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.240475	0.41605	N	0.000850	T	0.41026	0.1141	N	0.21448	0.665	0.09310	N	1	B	0.26400	0.148	B	0.24541	0.054	T	0.18272	-1.0342	10	0.22109	T	0.4	.	8.0537	0.30593	0.1046:0.5317:0.3636:0.0	.	281	P21918	DRD5_HUMAN	N	281	ENSP00000306129:D281N	ENSP00000306129:D281N	D	+	1	0	DRD5	9393592	0.976000	0.34144	0.001000	0.08648	0.568000	0.35870	2.185000	0.42584	0.420000	0.25954	0.305000	0.20034	GAC		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
DRD5	1816	broad.mit.edu	37	4	9784902	9784902	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:9784902G>A	ENST00000304374.2	+	1	1645	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	417					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.A417T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GATGCCCAACGCCGTTACCCC	0.557																																					p.A417T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1249A	4						.						92.0	77.0	82.0					4																	9784902		2203	4300	6503	9394000	SO:0001583	missense	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1249G>A	4.37:g.9784902G>A	ENSP00000306129:p.Ala417Thr		9394000	NM_000798	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.616362	0.28801	.	.	ENSG00000169676	ENST00000304374	T	0.66638	-0.22	4.84	4.84	0.62591	.	0.383933	0.25197	N	0.032419	T	0.59514	0.2199	L	0.52126	1.63	0.39639	D	0.970296	D	0.52996	0.957	B	0.38194	0.267	T	0.64728	-0.6339	10	0.33940	T	0.23	.	17.1374	0.86743	0.0:0.0:1.0:0.0	.	417	P21918	DRD5_HUMAN	T	417	ENSP00000306129:A417T	ENSP00000306129:A417T	A	+	1	0	DRD5	9394000	1.000000	0.71417	0.012000	0.15200	0.019000	0.09904	9.202000	0.95026	2.515000	0.84797	0.460000	0.39030	GCC		0.557	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
DRD5	1816	broad.mit.edu	37	4	9785072	9785072	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:9785072G>A	ENST00000304374.2	+	1	1815	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	473					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.P473P(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTTCACCCCGAATGGATTCC	0.488																																					p.P473P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1419A	4						.						28.0	30.0	29.0					4																	9785072		2203	4300	6503	9394170	SO:0001819	synonymous_variant	1816	exon1			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1419G>A	4.37:g.9785072G>A			9394170	NM_000798	B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	CCDS3405.1																																																																																				0.488	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
SLC2A9	56606	broad.mit.edu	37	4	9828169	9828169	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:9828169G>A	ENST00000264784.3	-	12	1528	c.1475C>T	c.(1474-1476)gCt>gTt	p.A492V	SLC2A9_ENST00000309065.3_Missense_Mutation_p.A463V|SLC2A9_ENST00000506583.1_Missense_Mutation_p.A463V	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	492					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.A463V(1)|p.A492V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGGTAGATAGCACCTGTGAT	0.413																																					p.A463V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1388T	4						.						112.0	105.0	107.0					4																	9828169		2203	4300	6503	9437267	SO:0001583	missense	56606	exon13			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1475C>T	4.37:g.9828169G>A	ENSP00000264784:p.Ala492Val		9437267	NM_001001290	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465497	0.63513	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.42131	0.98;0.98;0.98	6.16	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.250222	0.40385	N	0.001109	T	0.52533	0.1740	L	0.38838	1.175	0.36367	D	0.861073	D;D	0.63046	0.99;0.992	P;D	0.65773	0.897;0.938	T	0.54708	-0.8253	10	0.41790	T	0.15	.	15.447	0.75238	0.0:0.1385:0.8615:0.0	.	463;492	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	V	463;492;463	ENSP00000422209:A463V;ENSP00000264784:A492V;ENSP00000311383:A463V	ENSP00000264784:A492V	A	-	2	0	SLC2A9	9437267	1.000000	0.71417	0.789000	0.31954	0.238000	0.25445	5.750000	0.68712	2.937000	0.99478	0.650000	0.86243	GCT		0.413	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
SLC2A9	56606	broad.mit.edu	37	4	10023029	10023029	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:10023029A>G	ENST00000264784.3	-	1	78	c.25T>C	c.(25-27)Tcc>Ccc	p.S9P	SLC2A9_ENST00000309065.3_Intron|SLC2A9_ENST00000506583.1_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	9					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.S9P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGTTCCTTGGAATTCCTATTT	0.602																																					p.S9P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T25C	4						.						147.0	164.0	159.0					4																	10023029		2203	4300	6503	9632127	SO:0001583	missense	56606	exon1			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.25T>C	4.37:g.10023029A>G	ENSP00000264784:p.Ser9Pro		9632127	NM_020041	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005360	0.54254	.	.	ENSG00000109667	ENST00000264784	D	0.82255	-1.59	4.5	-2.83	0.05769	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.59838	0.2223	N	0.08118	0	0.19575	N	0.999963	B	0.06786	0.001	B	0.04013	0.001	T	0.43845	-0.9366	8	.	.	.	.	5.3465	0.16012	0.4131:0.1683:0.4186:0.0	.	9	Q9NRM0	GTR9_HUMAN	P	9	ENSP00000264784:S9P	.	S	-	1	0	SLC2A9	9632127	0.000000	0.05858	0.006000	0.13384	0.071000	0.16799	-0.272000	0.08560	-0.546000	0.06216	-0.408000	0.06270	TCC		0.602	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
SLIT2	9353	broad.mit.edu	37	4	20570499	20570499	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:20570499C>T	ENST00000504154.1	+	29	3212	c.2960C>T	c.(2959-2961)gCt>gTt	p.A987V	SLIT2_ENST00000503823.1_Missense_Mutation_p.A979V|SLIT2_ENST00000503837.1_Missense_Mutation_p.A983V|SLIT2_ENST00000273739.5_Missense_Mutation_p.A991V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	987	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.A987V(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATTTGTGCTGATGGATTT	0.328																																					p.A987V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2960T	4						.						169.0	169.0	169.0					4																	20570499		2203	4300	6503	20179597	SO:0001583	missense	9353	exon29			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2960C>T	4.37:g.20570499C>T	ENSP00000422591:p.Ala987Val		20179597	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942109	0.73557	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;D	0.92699	0.1;0.1;0.1;0.1;-3.09	5.45	5.45	0.79879	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.098159	0.64402	D	0.000001	D	0.89656	0.6778	L	0.41906	1.305	0.80722	D	1	B;B	0.16166	0.004;0.016	B;B	0.22386	0.007;0.039	D	0.84679	0.0716	10	0.39692	T	0.17	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	979;987	O94813-3;O94813	.;SLIT2_HUMAN	V	979;987;991;983;983;199	ENSP00000427548:A979V;ENSP00000422591:A987V;ENSP00000273739:A991V;ENSP00000422261:A983V;ENSP00000421975:A199V	ENSP00000273739:A991V	A	+	2	0	SLIT2	20179597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.716000	0.92895	0.655000	0.94253	GCT		0.328	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	broad.mit.edu	37	4	20611778	20611778	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:20611778C>A	ENST00000504154.1	+	34	4087	c.3835C>A	c.(3835-3837)Ctc>Atc	p.L1279I	SLIT2_ENST00000503823.1_Missense_Mutation_p.L1271I|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1275I|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1292I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1279	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.L1279I(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGACTCTCCACTCTATGTAGG	0.428																																					p.L1279I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3835A	4						.						122.0	111.0	115.0					4																	20611778		2203	4300	6503	20220876	SO:0001583	missense	9353	exon34			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3835C>A	4.37:g.20611778C>A	ENSP00000422591:p.Leu1279Ile		20220876	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.99|15.99	2.995883|2.995883	0.54147|0.54147	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000512993|ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.|D;D;D;D	.|0.82255	.|-1.59;-1.59;-1.59;-1.59	5.83|5.83	4.99|4.99	0.66335|0.66335	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.124936	.|0.56097	.|D	.|0.000037	D|D	0.85410|0.85410	0.5690|0.5690	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	.|D;B	.|0.58268	.|0.982;0.438	.|P;P	.|0.55055	.|0.767;0.483	D|D	0.83960|0.83960	0.0321|0.0321	5|10	.|0.37606	.|T	.|0.19	.|.	14.3548|14.3548	0.66730|0.66730	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	.|1271;1279	.|O94813-3;O94813	.|.;SLIT2_HUMAN	Q|I	62|1271;1279;1292;1275;1275	.|ENSP00000427548:L1271I;ENSP00000422591:L1279I;ENSP00000273739:L1292I;ENSP00000422261:L1275I	.|ENSP00000273739:L1292I	H|L	+|+	3|1	2|0	SLIT2|SLIT2	20220876|20220876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	4.831000|4.831000	0.62752|0.62752	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	CAC|CTC		0.428	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
GPR125	166647	broad.mit.edu	37	4	22414962	22414962	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:22414962C>T	ENST00000334304.5	-	14	2344	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	692					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R692Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATGTGCAATTCGACGCAGTGT	0.443																																					p.R692Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2075A	4						.						111.0	108.0	109.0					4																	22414962		2203	4300	6503	22024060	SO:0001583	missense	166647	exon14			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2075G>A	4.37:g.22414962C>T	ENSP00000334952:p.Arg692Gln		22024060	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656881	0.67586	.	.	ENSG00000152990	ENST00000334304	T	0.53857	0.6	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.978;0.999	P;P	0.61275	0.549;0.886	T	0.62163	-0.6912	10	0.29301	T	0.29	-5.5867	20.1991	0.98252	0.0:1.0:0.0:0.0	.	549;692	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	Q	692	ENSP00000334952:R692Q	ENSP00000334952:R692Q	R	-	2	0	GPR125	22024060	0.991000	0.36638	0.933000	0.37362	0.753000	0.42808	2.939000	0.48995	2.775000	0.95449	0.650000	0.86243	CGA		0.443	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
GPR125	166647	broad.mit.edu	37	4	22463423	22463423	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:22463423C>T	ENST00000334304.5	-	3	607	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	GPR125_ENST00000502482.1_Missense_Mutation_p.R113Q	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R113Q(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGATTGTTTCGGAGGTCCCT	0.338																																					p.R113Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G338A	4						.						61.0	64.0	63.0					4																	22463423		2203	4300	6503	22072521	SO:0001583	missense	166647	exon3			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.338G>A	4.37:g.22463423C>T	ENSP00000334952:p.Arg113Gln		22072521	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480378	0.63849	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	T;T	0.56776	0.44;0.44	5.71	5.71	0.89125	.	0.054599	0.64402	D	0.000001	T	0.42337	0.1198	L	0.31371	0.925	0.80722	D	1	P;P	0.46220	0.874;0.577	B;B	0.42087	0.375;0.166	T	0.42816	-0.9429	10	0.66056	D	0.02	-1.2018	10.8046	0.46509	0.0:0.9145:0.0:0.0855	.	113;113	Q8IWK6-2;Q8IWK6	.;GP125_HUMAN	Q	113	ENSP00000334952:R113Q;ENSP00000421006:R113Q	ENSP00000334952:R113Q	R	-	2	0	GPR125	22072521	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.709000	0.92574	0.655000	0.94253	CGA		0.338	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
DHX15	1665	broad.mit.edu	37	4	24534670	24534670	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:24534670T>G	ENST00000336812.4	-	12	2073	c.1917A>C	c.(1915-1917)gaA>gaC	p.E639D	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	639					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E639D(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACTGAACCGATTCATGATCTA	0.393																																					p.E639D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1917C	4						.						126.0	137.0	133.0					4																	24534670		2203	4300	6503	24143768	SO:0001583	missense	1665	exon12			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1917A>C	4.37:g.24534670T>G	ENSP00000336741:p.Glu639Asp		24143768	NM_001358	Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512421	0.27123	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.02656	4.21	5.89	-0.579	0.11720	.	0.000000	0.85682	D	0.000000	T	0.02267	0.0070	L	0.31207	0.915	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.52208	-0.8606	9	.	.	.	-19.6006	10.8776	0.46919	0.0:0.5752:0.0:0.4248	.	639;628;628	O43143;B4E0S6;F5H6K0	DHX15_HUMAN;.;.	D	639;628	ENSP00000336741:E639D	.	E	-	3	2	DHX15	24143768	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	0.611000	0.24268	-0.056000	0.13221	0.482000	0.46254	GAA		0.393	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	
DHX15	1665	broad.mit.edu	37	4	24556418	24556418	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:24556418C>T	ENST00000336812.4	-	5	1166	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	337					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R337Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATAACTGTTCGAATTGCTGC	0.378																																					p.R337Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	4						.						177.0	170.0	172.0					4																	24556418		2203	4300	6503	24165516	SO:0001583	missense	1665	exon5			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1010G>A	4.37:g.24556418C>T	ENSP00000336741:p.Arg337Gln		24165516	NM_001358	Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653646	0.88056	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.12569	2.67	6.05	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.06303	-1.0834	10	0.12766	T	0.61	.	13.2971	0.60303	0.0:0.87:0.0:0.13	.	337	O43143	DHX15_HUMAN	Q	337;326	ENSP00000336741:R337Q	ENSP00000336741:R337Q	R	-	2	0	DHX15	24165516	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.775000	0.68915	1.577000	0.49804	-0.145000	0.13849	CGA		0.378	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358	
LGI2	55203	broad.mit.edu	37	4	25014036	25014036	+	Silent	SNP	C	C	T	rs200496667		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25014036C>T	ENST00000382114.4	-	7	926	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	247						extracellular region (GO:0005576)		p.A247A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCTGGGCTGCGCGATGGCCA	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21284	0.0		0.0	False		,,,				2504	0.0				p.A247A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741A	4						.						151.0	125.0	134.0					4																	25014036		2203	4300	6503	24623134	SO:0001819	synonymous_variant	55203	exon7			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.741G>A	4.37:g.25014036C>T			24623134	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Silent	SNP	ENST00000382114.4	37	CCDS3431.1																																																																																				0.488	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		
LGI2	55203	broad.mit.edu	37	4	25019779	25019779	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25019779C>A	ENST00000382114.4	-	6	672	c.487G>T	c.(487-489)Gat>Tat	p.D163Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	163						extracellular region (GO:0005576)		p.D163Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCCTCAAATCTCTAAAAATC	0.358																																					p.D163Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487T	4						.						70.0	71.0	71.0					4																	25019779		2203	4300	6503	24628877	SO:0001630	splice_region_variant	55203	exon6			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.486-1G>T	4.37:g.25019779C>A			24628877	NM_018176	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	CCDS3431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501988|4.501988	0.85176|0.85176	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000382114|ENST00000512108	T|.	0.59364|.	0.27|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.65354|.	0.2683|.	L|L	0.33668|0.33668	1.02|1.02	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.58561|.	-0.7615|.	10|.	0.42905|.	T|.	0.14|.	-27.5426|-27.5426	20.0781|20.0781	0.97751|0.97751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163|.	Q8N0V4|.	LGI2_HUMAN|.	Y|Y	163|153	ENSP00000371548:D163Y|.	ENSP00000371548:D163Y|.	D|X	-|-	1|3	0|2	LGI2|LGI2	24628877|24628877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	7.776000|7.776000	0.85560|0.85560	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAT|TAG		0.358	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1		Missense_Mutation
SEPSECS	51091	broad.mit.edu	37	4	25125665	25125665	+	Missense_Mutation	SNP	C	C	T	rs115959591	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25125665C>T	ENST00000382103.2	-	11	1466	c.1394G>A	c.(1393-1395)cGa>cAa	p.R465Q	SEPSECS_ENST00000515272.1_5'Flank|SEPSECS_ENST00000302922.3_Missense_Mutation_p.R386Q	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	465					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.R386Q(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CTCTTTACTTCGTTCTTTTCT	0.383													c|||	37	0.00738818	0.0265	0.0014	5008	,	,		21595	0.0		0.0	False		,,,				2504	0.001				p.R465Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1394A	4						.	C	GLN/ARG	90,4316	75.2+/-113.4	0,90,2113	248.0	216.0	227.0		1394	3.1	0.4	4	dbSNP_132	227	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SEPSECS	NM_016955.3	43	0,93,6410	TT,TC,CC		0.0349,2.0427,0.7151	benign	465/502	25125665	93,12913	2203	4300	6503	24734763	SO:0001583	missense	51091	exon11			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1394G>A	4.37:g.25125665C>T	ENSP00000371535:p.Arg465Gln		24734763	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	11	0.005036630036630037	10	0.02032520325203252	1	0.0027624309392265192	0	0.0	0	0.0	c	1.483	-0.556769	0.03967	0.020427	3.49E-4	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82255	-1.59;-1.57	5.53	3.09	0.35607	Pyridoxal phosphate-dependent transferase, major domain (1);	0.555420	0.19275	N	0.118307	T	0.41719	0.1171	N	0.03608	-0.345	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34354	-0.9832	10	0.09843	T	0.71	-16.4652	6.5323	0.22334	0.0:0.1429:0.1301:0.7269	.	464;405;465	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	Q	386;465	ENSP00000305956:R386Q;ENSP00000371535:R465Q	ENSP00000305956:R386Q	R	-	2	0	SEPSECS	24734763	0.517000	0.26226	0.409000	0.26459	0.423000	0.31445	0.820000	0.27323	0.381000	0.24851	-0.374000	0.07098	CGA		0.383	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
SEPSECS	51091	broad.mit.edu	37	4	25128891	25128891	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25128891G>T	ENST00000382103.2	-	9	1187	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y	SEPSECS_ENST00000515272.1_5'UTR|SEPSECS_ENST00000302922.3_Missense_Mutation_p.S293Y	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	372					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.S293Y(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				ATTACCTAAAGATATGGGATT	0.338																																					p.S372Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1115A	4						.						131.0	133.0	132.0					4																	25128891		2203	4299	6502	24737989	SO:0001583	missense	51091	exon9			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1115C>A	4.37:g.25128891G>T	ENSP00000371535:p.Ser372Tyr		24737989	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814139	0.90790	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.83992	-1.79;-1.79	5.53	5.53	0.82687	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.93347	0.7879	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94354	0.7582	10	0.87932	D	0	-28.1888	19.4447	0.94841	0.0:0.0:1.0:0.0	.	371;312;372	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	Y	293;372	ENSP00000305956:S293Y;ENSP00000371535:S372Y	ENSP00000305956:S293Y	S	-	2	0	SEPSECS	24737989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.566000	0.90734	2.613000	0.88420	0.650000	0.86243	TCT		0.338	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
SEPSECS	51091	broad.mit.edu	37	4	25156669	25156669	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25156669G>T	ENST00000382103.2	-	5	724	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	SEPSECS_ENST00000302922.3_Missense_Mutation_p.L139M	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	218					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.L139M(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TGAATACACAGAATGCAATCA	0.418																																					p.L218M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652A	4						.						140.0	121.0	128.0					4																	25156669		2203	4300	6503	24765767	SO:0001583	missense	51091	exon5			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.652C>A	4.37:g.25156669G>T	ENSP00000371535:p.Leu218Met		24765767	NM_016955	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705320	0.68615	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	D;D	0.82803	-1.65;-1.65	5.5	4.66	0.58398	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.070231	0.64402	D	0.000014	D	0.91338	0.7268	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.978;0.966;0.993	D	0.92260	0.5816	10	0.56958	D	0.05	-13.2774	14.482	0.67590	0.0712:0.0:0.9288:0.0	.	217;158;218	Q9HD40-3;A1A4F3;Q9HD40	.;.;SPCS_HUMAN	M	139;218	ENSP00000305956:L139M;ENSP00000371535:L218M	ENSP00000305956:L139M	L	-	1	2	SEPSECS	24765767	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.532000	0.81985	1.460000	0.47911	0.650000	0.86243	CTG		0.418	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
PI4K2B	55300	broad.mit.edu	37	4	25254052	25254052	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25254052C>T	ENST00000264864.6	+	2	567	c.378C>T	c.(376-378)atC>atT	p.I126I	PI4K2B_ENST00000512921.1_Silent_p.I30I	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	126					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.I126I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAGAAAGAATCTCTCAAGGTT	0.368																																					p.I126I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	4						.						111.0	118.0	116.0					4																	25254052		2203	4300	6503	24863150	SO:0001819	synonymous_variant	55300	exon2			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.378C>T	4.37:g.25254052C>T			24863150	NM_018323	Q9NUW2	Silent	SNP	ENST00000264864.6	37	CCDS3433.1																																																																																				0.368	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
ZCCHC4	29063	broad.mit.edu	37	4	25315754	25315754	+	Missense_Mutation	SNP	G	G	T	rs144236014	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25315754G>T	ENST00000302874.4	+	2	238	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	72							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D72Y(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AGATAGAAAAGACTGTAATTT	0.353																																					p.D72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214T	4						.						163.0	155.0	158.0					4																	25315754		1786	4075	5861	24924852	SO:0001583	missense	29063	exon2			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.214G>T	4.37:g.25315754G>T	ENSP00000303468:p.Asp72Tyr		24924852	NM_024936	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	CCDS43218.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459853	0.84317	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.23552	1.9	5.77	5.77	0.91146	Zinc finger, GRF-type (1);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.42275	-0.9461	10	0.59425	D	0.04	-13.469	18.7722	0.91896	0.0:0.0:1.0:0.0	.	72	Q9H5U6	ZCHC4_HUMAN	Y	72;48	ENSP00000303468:D72Y	ENSP00000303468:D72Y	D	+	1	0	ZCCHC4	24924852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.698000	0.91311	2.726000	0.93360	0.650000	0.86243	GAC		0.353	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1		
ANAPC4	29945	broad.mit.edu	37	4	25404633	25404633	+	Missense_Mutation	SNP	C	C	T	rs201488708		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25404633C>T	ENST00000315368.3	+	17	1397	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R419W	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.R419W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCATTTTTTCGGTGGCTTTA	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		13524	0.001		0.0	False		,,,				2504	0.0				p.R419W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1255T	4						.						89.0	91.0	90.0					4																	25404633		2199	4297	6496	25013731	SO:0001583	missense	29945	exon17			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1255C>T	4.37:g.25404633C>T	ENSP00000318775:p.Arg419Trp		25013731	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.38	3.816149	0.70912	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.36520	1.25;1.25	5.26	5.26	0.73747	Anaphase-promoting complex subunit 4 long domain (1);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.59413	-0.7459	10	0.72032	D	0.01	-10.8341	14.1248	0.65213	0.1502:0.8498:0.0:0.0	.	419	Q9UJX5	APC4_HUMAN	W	419	ENSP00000318775:R419W;ENSP00000426654:R419W	ENSP00000318775:R419W	R	+	1	2	ANAPC4	25013731	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	2.956000	0.49129	2.629000	0.89072	0.655000	0.94253	CGG		0.279	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
ANAPC4	29945	broad.mit.edu	37	4	25416116	25416116	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25416116T>A	ENST00000315368.3	+	24	1856	c.1714T>A	c.(1714-1716)Ttt>Att	p.F572I	ANAPC4_ENST00000510092.1_Missense_Mutation_p.F573I	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	572					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.F572I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ATTGTTCAAATTTCCTTTTCT	0.274																																					p.F572I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1714A	4						.						69.0	68.0	68.0					4																	25416116		2193	4291	6484	25025214	SO:0001583	missense	29945	exon24			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1714T>A	4.37:g.25416116T>A	ENSP00000318775:p.Phe572Ile		25025214	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669332	0.29693	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30981	1.51;1.51	5.76	5.76	0.90799	.	0.062472	0.64402	D	0.000001	T	0.18841	0.0452	N	0.24115	0.695	0.34432	D	0.698634	B	0.25667	0.131	B	0.22386	0.039	T	0.28839	-1.0031	10	0.19147	T	0.46	-30.1425	9.2515	0.37557	0.0:0.14:0.0:0.86	.	572	Q9UJX5	APC4_HUMAN	I	572;573	ENSP00000318775:F572I;ENSP00000426654:F573I	ENSP00000318775:F572I	F	+	1	0	ANAPC4	25025214	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.722000	0.38042	2.199000	0.70637	0.477000	0.44152	TTT		0.274	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
ANAPC4	29945	broad.mit.edu	37	4	25418160	25418160	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25418160C>A	ENST00000315368.3	+	27	2157	c.2015C>A	c.(2014-2016)tCt>tAt	p.S672Y	ANAPC4_ENST00000510092.1_Missense_Mutation_p.S673Y	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	672					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.S672Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTGCCTTTGTCTTTAGTATAT	0.358																																					p.S672Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2015A	4						.						114.0	109.0	111.0					4																	25418160		2203	4300	6503	25027258	SO:0001583	missense	29945	exon27			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2015C>A	4.37:g.25418160C>A	ENSP00000318775:p.Ser672Tyr		25027258	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305898	0.81247	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.35236	1.32;1.32	5.68	5.68	0.88126	.	0.267830	0.44097	D	0.000484	T	0.38480	0.1042	L	0.29908	0.895	0.54753	D	0.999988	D	0.56521	0.976	P	0.47744	0.556	T	0.18023	-1.0350	10	0.59425	D	0.04	-26.1981	19.7941	0.96472	0.0:1.0:0.0:0.0	.	672	Q9UJX5	APC4_HUMAN	Y	672;673	ENSP00000318775:S672Y;ENSP00000426654:S673Y	ENSP00000318775:S672Y	S	+	2	0	ANAPC4	25027258	1.000000	0.71417	0.948000	0.38648	0.962000	0.63368	4.155000	0.58131	2.681000	0.91329	0.544000	0.68410	TCT		0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
SEL1L3	23231	broad.mit.edu	37	4	25789939	25789939	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:25789939C>A	ENST00000399878.3	-	13	2246	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	SEL1L3_ENST00000502949.1_Missense_Mutation_p.K555N|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K673N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	708						integral component of membrane (GO:0016021)		p.K555N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTCGGGATTCTTGGCCACAC	0.463																																					p.K708N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2124T	4						.						113.0	111.0	112.0					4																	25789939		1959	4142	6101	25399037	SO:0001583	missense	23231	exon13			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2124G>T	4.37:g.25789939C>A	ENSP00000382767:p.Lys708Asn		25399037	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789811	0.70337	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.54866	0.55;0.55;0.55	5.5	3.45	0.39498	Tetratricopeptide-like helical (1);	0.165194	0.52532	D	0.000077	T	0.50582	0.1624	N	0.14661	0.345	0.43803	D	0.996356	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.984	T	0.53795	-0.8388	10	0.66056	D	0.02	-26.0572	6.4537	0.21918	0.0:0.6291:0.0:0.3709	.	115;708	B4DTH5;Q68CR1	.;SE1L3_HUMAN	N	708;673;555	ENSP00000382767:K708N;ENSP00000264868:K673N;ENSP00000425438:K555N	ENSP00000264868:K673N	K	-	3	2	SEL1L3	25399037	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.580000	0.36547	1.318000	0.45170	0.563000	0.77884	AAG		0.463	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
RBPJ	3516	broad.mit.edu	37	4	26422267	26422267	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:26422267A>G	ENST00000361572.6	+	5	649	c.455A>G	c.(454-456)gAc>gGc	p.D152G	RBPJ_ENST00000345843.3_Missense_Mutation_p.D137G|RBPJ_ENST00000348160.4_Missense_Mutation_p.D139G|RBPJ_ENST00000342320.4_Missense_Mutation_p.D138G|RBPJ_ENST00000342295.1_Missense_Mutation_p.D152G|RBPJ_ENST00000355476.3_Missense_Mutation_p.D138G|RBPJ_ENST00000504907.1_Missense_Mutation_p.D138G|RBPJ_ENST00000507561.1_Missense_Mutation_p.D117G			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	152					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D138G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AACAGTGATGACATTGGTGTG	0.383																																					p.D138G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A413G	4						.						94.0	82.0	86.0					4																	26422267		2203	4300	6503	26031365	SO:0001583	missense	3516	exon6			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.455A>G	4.37:g.26422267A>G	ENSP00000354528:p.Asp152Gly		26031365	NM_203284	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986172	0.93044	.	.	ENSG00000168214	ENST00000510778;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000507574;ENST00000515573;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	5.65	0.86999	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.042171	0.85682	D	0.000000	D	0.89322	0.6682	M	0.85373	2.75	0.80722	D	1	P;P;P;P;P;P	0.46912	0.886;0.886;0.71;0.662;0.662;0.814	P;P;P;P;P;P	0.51615	0.577;0.577;0.675;0.546;0.546;0.675	D	0.90845	0.4726	10	0.66056	D	0.02	-17.4941	15.8591	0.79009	1.0:0.0:0.0:0.0	.	152;138;139;138;137;152	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	G	175;152;137;152;152;139;138;117;117;117;138;138;117	ENSP00000427170:D175G;ENSP00000423644:D152G;ENSP00000305815:D137G;ENSP00000345206:D152G;ENSP00000354528:D152G;ENSP00000339699:D139G;ENSP00000347659:D138G;ENSP00000423907:D117G;ENSP00000422617:D117G;ENSP00000423406:D117G;ENSP00000423703:D138G;ENSP00000340124:D138G;ENSP00000424459:D117G	ENSP00000345206:D152G	D	+	2	0	RBPJ	26031365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.150000	0.67090	0.528000	0.53228	GAC		0.383	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
RBPJ	3516	broad.mit.edu	37	4	26426325	26426325	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:26426325A>C	ENST00000361572.6	+	7	940	c.746A>C	c.(745-747)aAa>aCa	p.K249T	RBPJ_ENST00000345843.3_Missense_Mutation_p.K234T|RBPJ_ENST00000348160.4_Missense_Mutation_p.K236T|RBPJ_ENST00000342320.4_Missense_Mutation_p.K235T|RBPJ_ENST00000342295.1_Missense_Mutation_p.K249T|RBPJ_ENST00000355476.3_Missense_Mutation_p.K235T|RBPJ_ENST00000504907.1_Missense_Mutation_p.K235T|RBPJ_ENST00000507561.1_Missense_Mutation_p.K214T			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	249					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K235T(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAAACAGTCAAACTTGTGTGC	0.378																																					p.K235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704C	4						.						89.0	82.0	85.0					4																	26426325		2203	4300	6503	26035423	SO:0001583	missense	3516	exon8			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.746A>C	4.37:g.26426325A>C	ENSP00000354528:p.Lys249Thr		26035423	NM_203284	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393521	0.83011	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.51	5.51	0.81932	Beta-trefoil (2);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.65320	2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;0.999	T	0.52668	-0.8545	10	0.48119	T	0.1	-20.0448	15.6	0.76616	1.0:0.0:0.0:0.0	.	249;235;236;235;234;249	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	T	234;249;249;236;235;214;235;235	ENSP00000305815:K234T;ENSP00000345206:K249T;ENSP00000354528:K249T;ENSP00000339699:K236T;ENSP00000347659:K235T;ENSP00000423907:K214T;ENSP00000423703:K235T;ENSP00000340124:K235T	ENSP00000345206:K249T	K	+	2	0	RBPJ	26035423	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.870000	0.92336	2.087000	0.62958	0.455000	0.32223	AAA		0.378	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
CCKAR	886	broad.mit.edu	37	4	26487312	26487312	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:26487312C>A	ENST00000295589.3	-	3	767	c.573G>T	c.(571-573)caG>caT	p.Q191H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	191					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.Q191H(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TATTCGCGGTCTGGTTGTTAT	0.403																																					p.Q191H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G573T	4						.						117.0	112.0	113.0					4																	26487312		2203	4300	6503	26096410	SO:0001583	missense	886	exon3			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.573G>T	4.37:g.26487312C>A	ENSP00000295589:p.Gln191His		26096410	NM_000730	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144578	0.37825	.	.	ENSG00000163394	ENST00000295589	T	0.37235	1.21	5.69	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.171410	0.50627	D	0.000114	T	0.38532	0.1044	L	0.31294	0.92	0.37278	D	0.907719	P	0.45011	0.848	P	0.53266	0.722	T	0.40850	-0.9541	10	0.46703	T	0.11	.	10.61	0.45417	0.0:0.7546:0.1697:0.0757	.	191	P32238	CCKAR_HUMAN	H	191	ENSP00000295589:Q191H	ENSP00000295589:Q191H	Q	-	3	2	CCKAR	26096410	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	2.480000	0.45206	1.397000	0.46682	0.650000	0.86243	CAG		0.403	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
STIM2	57620	broad.mit.edu	37	4	26959261	26959261	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:26959261G>T	ENST00000467011.1	+	3	735	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	STIM2_ENST00000237364.5_Missense_Mutation_p.D191Y|STIM2_ENST00000412829.2_Missense_Mutation_p.D191Y|STIM2_ENST00000382009.3_Missense_Mutation_p.D191Y|STIM2_ENST00000467087.1_Missense_Mutation_p.D104Y|STIM2_ENST00000465503.1_Missense_Mutation_p.D104Y	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	104					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.D191Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAAATATAAAGATGCTACTAA	0.308																																					p.D104Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310T	4						.						109.0	117.0	114.0					4																	26959261		2203	4300	6503	26568359	SO:0001583	missense	57620	exon3			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.310G>T	4.37:g.26959261G>T	ENSP00000419383:p.Asp104Tyr		26568359	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149850	0.78001	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.80480	-1.33;-1.35;-1.35;-1.34;-1.38;-1.32	5.75	5.75	0.90469	.	0.104159	0.64402	D	0.000003	D	0.88168	0.6364	L	0.56199	1.76	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.88413	0.3023	10	0.72032	D	0.01	.	18.7177	0.91682	0.0:0.0:1.0:0.0	.	191;191;191	A6H8L7;E9PGD0;F5GXJ4	.;.;.	Y	104;191;191;104;191;104	ENSP00000419073:D104Y;ENSP00000371439:D191Y;ENSP00000237364:D191Y;ENSP00000419383:D104Y;ENSP00000404812:D191Y;ENSP00000417569:D104Y	ENSP00000237364:D191Y	D	+	1	0	STIM2	26568359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.035000	0.64158	2.717000	0.92951	0.585000	0.79938	GAT		0.308	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
STIM2	57620	broad.mit.edu	37	4	27009179	27009179	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:27009179G>A	ENST00000467011.1	+	8	1431	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	STIM2_ENST00000237364.5_Missense_Mutation_p.E423K|STIM2_ENST00000412829.2_Missense_Mutation_p.E423K|STIM2_ENST00000382009.3_Missense_Mutation_p.E423K|STIM2_ENST00000467087.1_Missense_Mutation_p.E336K|STIM2_ENST00000465503.1_Missense_Mutation_p.E336K	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	336					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.E423K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GAAAAAGGCCGAAAAAGAATT	0.393																																					p.E336K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1006A	4						.						59.0	59.0	59.0					4																	27009179		2203	4300	6503	26618277	SO:0001583	missense	57620	exon8			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1006G>A	4.37:g.27009179G>A	ENSP00000419383:p.Glu336Lys		26618277	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856947	0.91433	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519	D;D;D;D;D;D;D	0.84800	-1.76;-1.74;-1.77;-1.78;-1.78;-1.73;-1.9	5.22	5.22	0.72569	.	0.105878	0.64402	D	0.000005	D	0.93051	0.7788	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.986;0.981;0.981;0.992	D	0.93771	0.7075	10	0.87932	D	0	.	19.1387	0.93439	0.0:0.0:1.0:0.0	.	336;423;423;423	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	K	336;423;423;336;423;336;44	ENSP00000419073:E336K;ENSP00000371439:E423K;ENSP00000237364:E423K;ENSP00000419383:E336K;ENSP00000404812:E423K;ENSP00000417569:E336K;ENSP00000420113:E44K	ENSP00000237364:E423K	E	+	1	0	STIM2	26618277	1.000000	0.71417	0.996000	0.52242	0.826000	0.46750	9.420000	0.97426	2.603000	0.88011	0.591000	0.81541	GAA		0.393	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
STIM2	57620	broad.mit.edu	37	4	27019558	27019558	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:27019558G>A	ENST00000467011.1	+	11	2140	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	STIM2_ENST00000237364.5_Missense_Mutation_p.R659Q|STIM2_ENST00000412829.2_Missense_Mutation_p.R659Q|STIM2_ENST00000382009.3_Missense_Mutation_p.R667Q|STIM2_ENST00000467087.1_Missense_Mutation_p.R572Q|STIM2_ENST00000465503.1_Missense_Mutation_p.R580Q	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	572					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.R659Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GCGCTTTATCGAAATGAAGAG	0.522																																					p.R572Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1715A	4						.						286.0	278.0	281.0					4																	27019558		2203	4300	6503	26628656	SO:0001583	missense	57620	exon11			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1715G>A	4.37:g.27019558G>A	ENSP00000419383:p.Arg572Gln		26628656	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419534	0.96111	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	L	0.40543	1.245	0.58432	D	0.999997	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.978;0.978;0.99	T	0.60188	-0.7312	10	0.66056	D	0.02	.	18.9976	0.92819	0.0:0.0:1.0:0.0	.	572;659;667;659	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	Q	572;667;659;572;659;580;280;174	ENSP00000419073:R572Q;ENSP00000371439:R667Q;ENSP00000237364:R659Q;ENSP00000419383:R572Q;ENSP00000404812:R659Q;ENSP00000417569:R580Q;ENSP00000420113:R280Q;ENSP00000419536:R174Q	ENSP00000237364:R659Q	R	+	2	0	STIM2	26628656	1.000000	0.71417	0.977000	0.42913	0.980000	0.70556	4.993000	0.63895	2.483000	0.83821	0.460000	0.39030	CGA		0.522	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
PCDH7	5099	broad.mit.edu	37	4	30724322	30724322	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:30724322G>T	ENST00000361762.2	+	1	2286	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	PCDH7_ENST00000543491.1_Missense_Mutation_p.K426N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K379N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCCCCCTCAAGGACGGGGTGG	0.617																																					p.K426N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1278T	4						.						44.0	42.0	43.0					4																	30724322		2203	4300	6503	30333420	SO:0001583	missense	5099	exon1			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1278G>T	4.37:g.30724322G>T	ENSP00000355243:p.Lys426Asn		30333420	NM_032456	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.572|7.572	0.666990|0.666990	0.14710|0.14710	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.52295	.|0.69;0.67	5.48|5.48	2.68|2.68	0.31781|0.31781	.|Cadherin-like (1);	.|.	.|.	.|.	.|.	.|T	.|0.29783	.|0.0744	N|N	0.12182|0.12182	0.205|0.205	0.46586|0.46586	D|D	0.999112|0.999112	.|B;B;B	.|0.28933	.|0.222;0.222;0.228	.|B;B;B	.|0.35278	.|0.199;0.199;0.129	.|T	.|0.05852	.|-1.0860	.|9	.|0.31617	.|T	.|0.26	.|.	8.4303|8.4303	0.32753|0.32753	0.1366:0.1268:0.7366:0.0|0.1366:0.1268:0.7366:0.0	.|.	.|426;379;426	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	X|N	116|426;426;379	.|ENSP00000355243:K426N;ENSP00000441802:K426N	.|ENSP00000330302:K379N	G|K	+|+	1|3	0|2	PCDH7|PCDH7	30333420|30333420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	2.695000|2.695000	0.47043|0.47043	0.690000|0.690000	0.31570|0.31570	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.617	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
ARAP2	116984	broad.mit.edu	37	4	36121307	36121307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:36121307C>A	ENST00000303965.4	-	24	4417	c.3928G>T	c.(3928-3930)Gaa>Taa	p.E1310*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1310					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E1310*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAGCTATTTTCTATGTCCATT	0.303																																					p.E1310X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3928T	4						.						175.0	179.0	178.0					4																	36121307		2203	4297	6500	35797702	SO:0001587	stop_gained	116984	exon24			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3928G>T	4.37:g.36121307C>A	ENSP00000302895:p.Glu1310*		35797702	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	47	13.463816	0.99743	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.06	5.06	0.68205	.	0.114475	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.6122	0.91290	0.0:1.0:0.0:0.0	.	.	.	.	X	1310	.	ENSP00000302895:E1310X	E	-	1	0	ARAP2	35797702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.631000	0.89168	0.585000	0.79938	GAA		0.303	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36214928	36214928	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:36214928C>A	ENST00000303965.4	-	4	1467	c.978G>T	c.(976-978)gaG>gaT	p.E326D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	326					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E326D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAGATGAATTCTCCTCATTTG	0.313																																					p.E326D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G978T	4						.						62.0	67.0	66.0					4																	36214928		2203	4297	6500	35891323	SO:0001583	missense	116984	exon4			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.978G>T	4.37:g.36214928C>A	ENSP00000302895:p.Glu326Asp		35891323	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846280	0.32606	.	.	ENSG00000047365	ENST00000303965	T	0.08896	3.04	5.57	1.4	0.22301	.	0.232737	0.36002	N	0.002857	T	0.03564	0.0102	N	0.17474	0.49	0.21897	N	0.999489	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.44159	-0.9346	10	0.10111	T	0.7	.	3.7018	0.08386	0.3483:0.4571:0.0:0.1945	.	256;326	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	D	326	ENSP00000302895:E326D	ENSP00000302895:E326D	E	-	3	2	ARAP2	35891323	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.058000	0.14301	0.316000	0.23135	0.591000	0.81541	GAG		0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36231073	36231073	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:36231073T>A	ENST00000303965.4	-	2	525	c.36A>T	c.(34-36)aaA>aaT	p.K12N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	12	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.K12N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAGGAAATCTTTTATATCCA	0.393																																					p.K12N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A36T	4						.						72.0	77.0	75.0					4																	36231073		2191	4288	6479	35907468	SO:0001583	missense	116984	exon2			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.36A>T	4.37:g.36231073T>A	ENSP00000302895:p.Lys12Asn		35907468	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055494	0.36277	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.64618	-0.11;-0.11	5.58	3.14	0.36123	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	1.240770	0.05286	N	0.520305	T	0.51517	0.1679	L	0.29908	0.895	0.22292	N	0.999221	B	0.32010	0.351	B	0.34038	0.174	T	0.42982	-0.9419	10	0.41790	T	0.15	.	6.0288	0.19669	0.0:0.141:0.137:0.7219	.	12	Q8WZ64	ARAP2_HUMAN	N	12	ENSP00000302895:K12N;ENSP00000422731:K12N	ENSP00000302895:K12N	K	-	3	2	ARAP2	35907468	0.996000	0.38824	0.981000	0.43875	0.612000	0.37316	1.617000	0.36943	0.412000	0.25729	0.524000	0.50904	AAA		0.393	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RELL1	768211	broad.mit.edu	37	4	37648998	37648998	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:37648998T>G	ENST00000454158.2	-	3	465	c.377A>C	c.(376-378)aAa>aCa	p.K126T	RELL1_ENST00000314117.4_Missense_Mutation_p.K126T	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	126						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.K126T(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						ACCTTCATTTTTCATGATGTA	0.358																																					p.K126T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A377C	4						.						99.0	88.0	92.0					4																	37648998		1876	4115	5991	37325393	SO:0001583	missense	768211	exon3			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.377A>C	4.37:g.37648998T>G	ENSP00000398778:p.Lys126Thr		37325393	NM_001085400	Q8NBK1	Missense_Mutation	SNP	ENST00000454158.2	37	CCDS43221.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924891	0.73213	.	.	ENSG00000181826	ENST00000314117;ENST00000454158;ENST00000512114	T;T;T	0.34667	1.37;1.37;1.35	5.67	4.5	0.54988	.	0.137935	0.64402	D	0.000005	T	0.41766	0.1173	L	0.60455	1.87	0.47862	D	0.999538	D	0.57899	0.981	P	0.49637	0.617	T	0.39781	-0.9597	10	0.66056	D	0.02	-15.6449	10.0552	0.42241	0.0:0.0788:0.0:0.9212	.	126	Q8IUW5	RELL1_HUMAN	T	126;126;147	ENSP00000313385:K126T;ENSP00000398778:K126T;ENSP00000424031:K147T	ENSP00000313385:K126T	K	-	2	0	RELL1	37325393	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.510000	0.45468	2.164000	0.68074	0.533000	0.62120	AAA		0.358	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400	
RELL1	768211	broad.mit.edu	37	4	37650923	37650923	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:37650923G>A	ENST00000454158.2	-	2	376	c.288C>T	c.(286-288)atC>atT	p.I96I	RELL1_ENST00000314117.4_Silent_p.I96I	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	96						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.I96I(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TTTCCTCTTCGATATCTTGCT	0.408																																					p.I96I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288T	4						.						161.0	167.0	165.0					4																	37650923		1895	4114	6009	37327318	SO:0001819	synonymous_variant	768211	exon2			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.288C>T	4.37:g.37650923G>A			37327318	NM_001085400	Q8NBK1	Silent	SNP	ENST00000454158.2	37	CCDS43221.1																																																																																				0.408	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400	
TLR10	81793	broad.mit.edu	37	4	38775007	38775007	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38775007G>T	ENST00000308973.4	-	4	2810	c.2205C>A	c.(2203-2205)ttC>ttA	p.F735L	TLR10_ENST00000506111.1_Missense_Mutation_p.F735L|TLR10_ENST00000361424.2_Missense_Mutation_p.F735L|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.F735L	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	735	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A16D(1)|p.F735L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAATGCAATAGAATGGAATGG	0.403																																					p.F735L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2205A	4						.						87.0	91.0	89.0					4																	38775007		2203	4300	6503	38451402	SO:0001583	missense	81793	exon4			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2205C>A	4.37:g.38775007G>T	ENSP00000308925:p.Phe735Leu		38451402	NM_030956	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232491	0.22626	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.56	-4.7	0.03288	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.197910	0.06351	N	0.709933	T	0.42653	0.1212	N	0.00112	-2.095	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.27785	T	0.31	.	10.8378	0.46698	0.0603:0.5529:0.2583:0.1285	.	735	Q9BXR5	TLR10_HUMAN	L	735	ENSP00000308925:F735L;ENSP00000421483:F735L;ENSP00000354459:F735L;ENSP00000424923:F735L	ENSP00000308925:F735L	F	-	3	2	TLR10	38451402	0.000000	0.05858	0.007000	0.13788	0.723000	0.41478	-2.525000	0.00948	-0.921000	0.03794	-0.181000	0.13052	TTC		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
TLR10	81793	broad.mit.edu	37	4	38775316	38775316	+	Silent	SNP	G	G	A	rs148341393		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38775316G>A	ENST00000308973.4	-	4	2501	c.1896C>T	c.(1894-1896)gtC>gtT	p.V632V	TLR10_ENST00000506111.1_Silent_p.V632V|TLR10_ENST00000361424.2_Silent_p.V632V|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Silent_p.V632V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	632	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V632V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CGTGGAATCGGACATTTCTCT	0.418																																					p.V632V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1896T	4						.	G	,,,,	0,4406		0,0,2203	138.0	130.0	133.0		1896,1896,1896,1854,1896	3.3	1.0	4	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	632/812,632/812,632/812,618/798,632/812	38775316	1,13005	2203	4300	6503	38451711	SO:0001819	synonymous_variant	81793	exon4			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1896C>T	4.37:g.38775316G>A			38451711	NM_030956	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	CCDS3445.1																																																																																				0.418	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
TLR10	81793	broad.mit.edu	37	4	38776947	38776947	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38776947G>A	ENST00000308973.4	-	4	870	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	TLR10_ENST00000506111.1_Missense_Mutation_p.L89F|TLR10_ENST00000361424.2_Missense_Mutation_p.L89F|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.L89F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	89					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.L89F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAGGTTTTGAGATCCAGCTGT	0.353																																					p.L89F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	4						.						60.0	61.0	61.0					4																	38776947		2203	4300	6503	38453342	SO:0001583	missense	81793	exon4			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.265C>T	4.37:g.38776947G>A	ENSP00000308925:p.Leu89Phe		38453342	NM_030956	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.739439	0.00681	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334;ENST00000502321	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;4.25	5.23	-3.23	0.05109	.	0.816262	0.10288	N	0.692715	T	0.32102	0.0818	L	0.45352	1.415	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.29088	-1.0023	10	0.13470	T	0.59	.	0.4875	0.00559	0.3701:0.1392:0.2068:0.2839	.	89	Q9BXR5	TLR10_HUMAN	F	89;89;89;89;75	ENSP00000308925:L89F;ENSP00000421483:L89F;ENSP00000354459:L89F;ENSP00000424923:L89F;ENSP00000427606:L75F	ENSP00000308925:L89F	L	-	1	0	TLR10	38453342	0.000000	0.05858	0.785000	0.31869	0.050000	0.14768	-0.400000	0.07241	-0.580000	0.05944	-1.104000	0.02111	CTC		0.353	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
TLR10	81793	broad.mit.edu	37	4	38777198	38777198	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38777198C>A	ENST00000308973.4	-	4	619	c.14G>T	c.(13-15)aGa>aTa	p.R5I	TLR10_ENST00000506111.1_Missense_Mutation_p.R5I|TLR10_ENST00000361424.2_Missense_Mutation_p.R5I|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Missense_Mutation_p.R5I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	5					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R5I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTAAATGTTTCTGATGAGTCT	0.358																																					p.R5I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14T	4						.						58.0	61.0	60.0					4																	38777198		2203	4299	6502	38453593	SO:0001583	missense	81793	exon4			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.14G>T	4.37:g.38777198C>A	ENSP00000308925:p.Arg5Ile		38453593	NM_030956	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707582	0.15239	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.36	4.5	0.54988	.	0.339514	0.21112	N	0.079978	T	0.09247	0.0228	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24012	-1.0172	10	0.36615	T	0.2	.	8.5205	0.33273	0.2577:0.5523:0.1901:0.0	.	5	Q9BXR5	TLR10_HUMAN	I	5	ENSP00000308925:R5I;ENSP00000421483:R5I;ENSP00000354459:R5I;ENSP00000424923:R5I	ENSP00000308925:R5I	R	-	2	0	TLR10	38453593	0.985000	0.35326	0.089000	0.20774	0.333000	0.28666	0.413000	0.21148	1.212000	0.43366	0.655000	0.94253	AGA		0.358	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
TLR1	7096	broad.mit.edu	37	4	38798514	38798514	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38798514C>T	ENST00000502213.2	-	3	2168	c.1939G>A	c.(1939-1941)Gat>Aat	p.D647N	TLR1_ENST00000308979.2_Missense_Mutation_p.D647N|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	647	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.D647N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CAGAAAGAATCGTGCCCACTA	0.448																																					p.D647N	GBM(5;216 373 40795 46382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1939A	4						.						94.0	95.0	94.0					4																	38798514		2203	4300	6503	38474909	SO:0001583	missense	7096	exon4			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1939G>A	4.37:g.38798514C>T	ENSP00000421259:p.Asp647Asn		38474909	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673090	0.67928	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.08102	3.13;3.13	5.29	5.29	0.74685	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.080772	0.50627	D	0.000113	T	0.35307	0.0927	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.20638	-1.0269	10	0.87932	D	0	.	19.3152	0.94208	0.0:1.0:0.0:0.0	.	647	Q15399	TLR1_HUMAN	N	647	ENSP00000354932:D647N;ENSP00000421259:D647N	ENSP00000354932:D647N	D	-	1	0	TLR1	38474909	1.000000	0.71417	0.983000	0.44433	0.514000	0.34195	5.791000	0.69045	2.648000	0.89879	0.563000	0.77884	GAT		0.448	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
TLR1	7096	broad.mit.edu	37	4	38799017	38799017	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38799017G>T	ENST00000502213.2	-	3	1665	c.1436C>A	c.(1435-1437)tCt>tAt	p.S479Y	TLR1_ENST00000308979.2_Missense_Mutation_p.S479Y|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	479					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S479Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GTCAGTTAAAGAATTGAAAGC	0.403																																					p.S479Y	GBM(5;216 373 40795 46382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1436A	4						.						69.0	73.0	72.0					4																	38799017		2203	4297	6500	38475412	SO:0001583	missense	7096	exon4			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1436C>A	4.37:g.38799017G>T	ENSP00000421259:p.Ser479Tyr		38475412	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	8.371	0.835295	0.16820	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.60672	0.17;0.17	4.61	-1.64	0.08318	.	0.739162	0.12165	N	0.493602	T	0.37652	0.1011	L	0.38649	1.16	0.09310	N	0.999999	B	0.17038	0.02	B	0.18561	0.022	T	0.29427	-1.0012	10	0.48119	T	0.1	.	0.0517	0.00012	0.3079:0.1796:0.196:0.3166	.	479	Q15399	TLR1_HUMAN	Y	479	ENSP00000354932:S479Y;ENSP00000421259:S479Y	ENSP00000354932:S479Y	S	-	2	0	TLR1	38475412	0.000000	0.05858	0.201000	0.23476	0.981000	0.71138	-0.021000	0.12504	-0.257000	0.09459	0.650000	0.86243	TCT		0.403	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
TLR1	7096	broad.mit.edu	37	4	38799708	38799708	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38799708G>T	ENST00000502213.2	-	3	974	c.745C>A	c.(745-747)Ctt>Att	p.L249I	TLR1_ENST00000308979.2_Missense_Mutation_p.L249I			Q15399	TLR1_HUMAN	toll-like receptor 1	249					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L249I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTAAGGTAAGATTTGATAAC	0.333																																					p.L249I	GBM(5;216 373 40795 46382)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745A	4						.						60.0	67.0	64.0					4																	38799708		2203	4300	6503	38476103	SO:0001583	missense	7096	exon4			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.745C>A	4.37:g.38799708G>T	ENSP00000421259:p.Leu249Ile		38476103	NM_003263	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464846	0.26335	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.69926	-0.44;-0.44	4.69	2.86	0.33363	.	0.000000	0.56097	D	0.000034	T	0.65616	0.2708	M	0.74389	2.26	0.27234	N	0.959338	D	0.53885	0.963	P	0.44447	0.45	T	0.62737	-0.6791	10	0.72032	D	0.01	.	8.7866	0.34825	0.2588:0.0:0.7412:0.0	.	249	Q15399	TLR1_HUMAN	I	249	ENSP00000354932:L249I;ENSP00000421259:L249I	ENSP00000354932:L249I	L	-	1	0	TLR1	38476103	0.996000	0.38824	0.285000	0.24819	0.005000	0.04900	2.217000	0.42880	0.618000	0.30179	-0.150000	0.13652	CTT		0.333	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
FAM114A1	92689	broad.mit.edu	37	4	38879919	38879919	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38879919G>A	ENST00000358869.2	+	3	396	c.220G>A	c.(220-222)Gat>Aat	p.D74N	FAM114A1_ENST00000515037.1_Intron	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	74						cytoplasm (GO:0005737)		p.D74N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCAGCCTCAGGATGCCAACGC	0.597																																					p.D74N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	4						.						40.0	41.0	41.0					4																	38879919		2203	4300	6503	38556314	SO:0001583	missense	92689	exon3				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.220G>A	4.37:g.38879919G>A	ENSP00000351740:p.Asp74Asn		38556314	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362939	0.24684	.	.	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.23552	1.9;2.93	3.86	3.0	0.34707	.	0.485372	0.20233	N	0.096460	T	0.19725	0.0474	L	0.47716	1.5	0.09310	N	1	B	0.24186	0.099	B	0.19391	0.025	T	0.18999	-1.0319	10	0.17832	T	0.49	-8.1125	9.3801	0.38309	0.0:0.2192:0.7808:0.0	.	74	Q8IWE2	NXP20_HUMAN	N	74	ENSP00000422965:D74N;ENSP00000351740:D74N	ENSP00000351740:D74N	D	+	1	0	FAM114A1	38556314	0.047000	0.20315	0.003000	0.11579	0.002000	0.02628	1.420000	0.34804	0.943000	0.37553	0.484000	0.47621	GAT		0.597	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
FAM114A1	92689	broad.mit.edu	37	4	38933940	38933940	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:38933940C>A	ENST00000358869.2	+	12	1584	c.1408C>A	c.(1408-1410)Ctt>Att	p.L470I	FAM114A1_ENST00000515037.1_Missense_Mutation_p.L263I	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	470						cytoplasm (GO:0005737)		p.L470I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTAATTCTTCATGGACA	0.358																																					p.L470I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1408A	4						.						69.0	68.0	68.0					4																	38933940		2203	4300	6503	38610335	SO:0001583	missense	92689	exon12				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1408C>A	4.37:g.38933940C>A	ENSP00000351740:p.Leu470Ile		38610335	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360573	0.82353	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.47869	0.83;1.51	5.62	5.62	0.85841	.	0.114043	0.64402	D	0.000013	T	0.62221	0.2410	M	0.86502	2.82	0.58432	D	0.999992	P;P	0.43287	0.7;0.802	B;B	0.43331	0.215;0.416	T	0.70421	-0.4876	10	0.72032	D	0.01	-3.7732	19.6539	0.95828	0.0:1.0:0.0:0.0	.	263;470	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	I	263;470;263	ENSP00000424115:L263I;ENSP00000351740:L470I	ENSP00000347569:L263I	L	+	1	0	FAM114A1	38610335	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.697000	0.68295	2.653000	0.90120	0.467000	0.42956	CTT		0.358	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
KLHL5	51088	broad.mit.edu	37	4	39064478	39064478	+	Missense_Mutation	SNP	G	G	A	rs201110544	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39064478G>A	ENST00000504108.1	+	1	627	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	KLHL5_ENST00000359687.2_Missense_Mutation_p.R115Q|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.R115Q|KLHL5_ENST00000261425.3_Missense_Mutation_p.R69Q|KLHL5_ENST00000381930.3_Missense_Mutation_p.R115Q	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	115						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R115Q(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATTGGTTACCGAAGGTCCAGC	0.473													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17466	0.0		0.0	False		,,,				2504	0.002				p.R115Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344A	4						.	G	GLN/ARG,,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	81.0	82.0		206,,344,344	3.8	1.0	4		82	0,8600		0,0,4300	no	missense,intron,missense,missense	KLHL5	NM_001007075.2,NM_001171654.1,NM_015990.4,NM_199039.3	43,,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,benign	69/710,,115/756,115/695	39064478	1,13005	2203	4300	6503	38740873	SO:0001583	missense	51088	exon1			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.344G>A	4.37:g.39064478G>A	ENSP00000423897:p.Arg115Gln		38740873	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	G	8.428	0.847853	0.17034	2.27E-4	0.0	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.73897	-0.52;-0.57;-0.49;-0.51;-0.79	5.53	3.81	0.43845	.	0.628267	0.15850	N	0.241565	T	0.49270	0.1547	N	0.08118	0	0.35924	D	0.83203	B;B;B	0.26258	0.005;0.003;0.145	B;B;B	0.12837	0.002;0.001;0.008	T	0.47129	-0.9141	10	0.08599	T	0.76	.	10.4548	0.44544	0.2096:0.0:0.7904:0.0	.	115;115;115	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	Q	149;69;115;115;115;115	ENSP00000261425:R69Q;ENSP00000423897:R115Q;ENSP00000352716:R115Q;ENSP00000371355:R115Q;ENSP00000261426:R115Q	ENSP00000261425:R69Q	R	+	2	0	KLHL5	38740873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.685000	0.46959	0.823000	0.34589	-0.143000	0.13931	CGA		0.473	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
KLHL5	51088	broad.mit.edu	37	4	39077652	39077652	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39077652T>C	ENST00000504108.1	+	2	872	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	KLHL5_ENST00000359687.2_Missense_Mutation_p.F197L|KLHL5_ENST00000508137.2_Missense_Mutation_p.F10L|KLHL5_ENST00000261426.5_Intron|KLHL5_ENST00000261425.3_Missense_Mutation_p.F151L|KLHL5_ENST00000381930.3_Missense_Mutation_p.F197L	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	197						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F197L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGATGAATTTTTCCAAGCCCT	0.343																																					p.F197L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T589C	4						.						126.0	126.0	126.0					4																	39077652		2203	4300	6503	38754047	SO:0001583	missense	51088	exon2			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.589T>C	4.37:g.39077652T>C	ENSP00000423897:p.Phe197Leu		38754047	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	T	31	5.075926	0.94000	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930	T;T;T;T;T	0.71461	-0.53;-0.54;-0.57;-0.49;-0.52	5.17	5.17	0.71159	BTB/POZ fold (1);	0.044153	0.85682	D	0.000000	T	0.75140	0.3809	L	0.29908	0.895	0.80722	D	1	D;D	0.64830	0.989;0.994	P;D	0.64595	0.847;0.927	T	0.78311	-0.2253	10	0.66056	D	0.02	.	15.2934	0.73885	0.0:0.0:0.0:1.0	.	197;197	Q96PQ7;Q96PQ7-2	KLHL5_HUMAN;.	L	231;151;10;197;197;197	ENSP00000261425:F151L;ENSP00000423080:F10L;ENSP00000423897:F197L;ENSP00000352716:F197L;ENSP00000371355:F197L	ENSP00000261425:F151L	F	+	1	0	KLHL5	38754047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.951000	0.87819	2.085000	0.62840	0.482000	0.46254	TTC		0.343	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
KLHL5	51088	broad.mit.edu	37	4	39088307	39088307	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39088307A>C	ENST00000504108.1	+	5	1494	c.1211A>C	c.(1210-1212)aAa>aCa	p.K404T	KLHL5_ENST00000359687.2_Missense_Mutation_p.K404T|KLHL5_ENST00000508137.2_Missense_Mutation_p.K217T|KLHL5_ENST00000261426.5_Missense_Mutation_p.K343T|KLHL5_ENST00000261425.3_Missense_Mutation_p.K358T|KLHL5_ENST00000381930.3_Missense_Mutation_p.K404T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	404						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K404T(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATCTAAGTAAACTTTTGGCT	0.358																																					p.K404T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1211C	4						.						107.0	104.0	105.0					4																	39088307		2203	4300	6503	38764702	SO:0001583	missense	51088	exon5			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1211A>C	4.37:g.39088307A>C	ENSP00000423897:p.Lys404Thr		38764702	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376297	0.24857	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.36	2.8	0.32819	BTB/Kelch-associated (2);	0.357287	0.31102	N	0.008254	T	0.48554	0.1506	L	0.33710	1.025	0.30898	N	0.729563	B;B;B	0.29341	0.13;0.242;0.203	B;B;B	0.22386	0.039;0.038;0.039	T	0.44034	-0.9354	10	0.15066	T	0.55	.	9.9823	0.41821	0.859:0.0:0.141:0.0	.	343;404;404	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	T	438;358;217;404;404;404;343	ENSP00000261425:K358T;ENSP00000423080:K217T;ENSP00000423897:K404T;ENSP00000352716:K404T;ENSP00000371355:K404T;ENSP00000261426:K343T	ENSP00000261425:K358T	K	+	2	0	KLHL5	38764702	0.938000	0.31826	0.998000	0.56505	0.989000	0.77384	0.837000	0.27558	0.308000	0.22923	0.397000	0.26171	AAA		0.358	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
WDR19	57728	broad.mit.edu	37	4	39255634	39255634	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39255634C>A	ENST00000399820.3	+	26	3139	c.2985C>A	c.(2983-2985)atC>atA	p.I995I	WDR19_ENST00000288634.7_Silent_p.I835I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	995					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.I995I(1)		large_intestine(1)	1						AAATGGAAATCTATGCAGATA	0.358																																					p.I995I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2985A	4						.						104.0	101.0	102.0					4																	39255634		1855	4107	5962	38932029	SO:0001819	synonymous_variant	57728	exon26			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2985C>A	4.37:g.39255634C>A			38932029	NM_025132	B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	CCDS47042.1																																																																																				0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
RFC1	5981	broad.mit.edu	37	4	39291553	39291553	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39291553G>A	ENST00000381897.1	-	24	3411	c.3278C>T	c.(3277-3279)tCg>tTg	p.S1093L	RFC1_ENST00000349703.2_Missense_Mutation_p.S1092L	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1093					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.S1092L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATTGTATTCCGAATCCAGGGA	0.413																																					p.S1092L	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3275T	4						.						232.0	227.0	229.0					4																	39291553		2203	4300	6503	38967948	SO:0001583	missense	5981	exon24			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3278C>T	4.37:g.39291553G>A	ENSP00000371321:p.Ser1093Leu		38967948	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	8.266	0.812203	0.16537	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.12039	2.72;2.72	5.83	4.02	0.46733	.	0.367340	0.23935	N	0.043119	T	0.14743	0.0356	M	0.63843	1.955	0.23743	N	0.996967	B;B	0.14012	0.002;0.009	B;B	0.11329	0.0;0.006	T	0.12243	-1.0555	10	0.33940	T	0.23	-2.8882	9.3646	0.38217	0.1335:0.1198:0.7467:0.0	.	1093;1092	P35251;P35251-2	RFC1_HUMAN;.	L	1093;1092	ENSP00000371321:S1093L;ENSP00000261424:S1092L	ENSP00000261424:S1092L	S	-	2	0	RFC1	38967948	0.899000	0.30636	0.909000	0.35828	0.002000	0.02628	2.665000	0.46791	1.479000	0.48272	-0.254000	0.11334	TCG		0.413	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RFC1	5981	broad.mit.edu	37	4	39304363	39304363	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39304363C>A	ENST00000381897.1	-	17	2470	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	RFC1_ENST00000349703.2_Missense_Mutation_p.Q778H	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	779					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.Q778H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATACCTTAATCTGTTCAACCC	0.308																																					p.Q778H	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2334T	4						.						41.0	42.0	41.0					4																	39304363		2203	4298	6501	38980758	SO:0001583	missense	5981	exon17			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2337G>T	4.37:g.39304363C>A	ENSP00000371321:p.Gln779His		38980758	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990659	0.74589	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.18174	2.23;2.23	6.02	2.44	0.29823	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	M	0.92367	3.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.52268	-0.8598	10	0.87932	D	0	-16.4431	10.5434	0.45045	0.0:0.7429:0.0:0.2571	.	779;778	P35251;P35251-2	RFC1_HUMAN;.	H	779;778	ENSP00000371321:Q779H;ENSP00000261424:Q778H	ENSP00000261424:Q778H	Q	-	3	2	RFC1	38980758	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.205000	0.42770	0.154000	0.19237	0.655000	0.94253	CAG		0.308	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RFC1	5981	broad.mit.edu	37	4	39310647	39310647	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39310647C>A	ENST00000381897.1	-	13	1627	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	RFC1_ENST00000349703.2_Missense_Mutation_p.K498N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	498					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.K498N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGACTCTTTCTTCATCTTAA	0.358																																					p.K498N	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1494T	4						.						44.0	48.0	47.0					4																	39310647		2200	4295	6495	38987042	SO:0001583	missense	5981	exon13			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1494G>T	4.37:g.39310647C>A	ENSP00000371321:p.Lys498Asn		38987042	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319572	0.41096	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.54479	0.57;0.57	5.91	4.16	0.48862	.	0.234776	0.50627	N	0.000117	T	0.50205	0.1602	M	0.65498	2.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.20184	0.008;0.028	T	0.47849	-0.9085	10	0.56958	D	0.05	-7.5716	9.5509	0.39310	0.1536:0.7756:0.0:0.0708	.	498;498	P35251;P35251-2	RFC1_HUMAN;.	N	498	ENSP00000371321:K498N;ENSP00000261424:K498N	ENSP00000261424:K498N	K	-	3	2	RFC1	38987042	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.968000	0.29357	0.781000	0.33589	0.655000	0.94253	AAG		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RFC1	5981	broad.mit.edu	37	4	39322244	39322244	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39322244C>A	ENST00000381897.1	-	9	987	c.854G>T	c.(853-855)aGg>aTg	p.R285M	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.R285M	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	285					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.R285M(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTTGCTTCCTAGGACTGTA	0.353																																					p.R285M	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854T	4						.						121.0	115.0	117.0					4																	39322244		2203	4300	6503	38998639	SO:0001583	missense	5981	exon9			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.854G>T	4.37:g.39322244C>A	ENSP00000371321:p.Arg285Met		38998639	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071997	0.36566	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.56103	0.48;0.48	6.06	0.768	0.18487	.	0.752620	0.13889	N	0.355740	T	0.30479	0.0766	N	0.14661	0.345	0.27435	N	0.953882	B;B	0.12630	0.003;0.006	B;B	0.12156	0.003;0.007	T	0.16837	-1.0389	10	0.48119	T	0.1	-1.5647	5.2862	0.15702	0.0:0.3019:0.1503:0.5478	.	285;285	P35251;P35251-2	RFC1_HUMAN;.	M	285	ENSP00000371321:R285M;ENSP00000261424:R285M	ENSP00000261424:R285M	R	-	2	0	RFC1	38998639	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	0.573000	0.23699	0.167000	0.19631	-0.290000	0.09829	AGG		0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
RPL9	6133	broad.mit.edu	37	4	39459852	39459852	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39459852T>C	ENST00000449470.2	-	2	572	c.124A>G	c.(124-126)Aat>Gat	p.N42D	LIAS_ENST00000513731.1_5'Flank|LIAS_ENST00000261434.3_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.N42D|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000381846.1_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.N42D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AGTTCTACATTGATGTGATTG	0.458																																					p.N42D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A124G	4						.						82.0	90.0	87.0					4																	39459852		2203	4299	6502	39136247	SO:0001583	missense	6133	exon3			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.124A>G	4.37:g.39459852T>C	ENSP00000400467:p.Asn42Asp		39136247	NM_000661		Missense_Mutation	SNP	ENST00000449470.2	37	CCDS3452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.66|18.66	3.672439|3.672439	0.67928|0.67928	.|.	.|.	ENSG00000163682|ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470|ENST00000508595	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Ribosomal protein L6, alpha-beta domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.59878|0.59878	0.2226|0.2226	L|L	0.39326|0.39326	1.205|1.205	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.09022|.	0.002;0.0;0.0|.	B;B;B|.	0.16722|.	0.016;0.011;0.016|.	T|T	0.56420|0.56420	-0.7982|-0.7982	9|5	0.22109|.	T|.	0.4|.	.|.	15.2836|15.2836	0.73810|0.73810	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	42;42;42|.	B4DLV8;B4E1M5;P32969|.	.;.;RL9_HUMAN|.	D|R	42|38	.|.	ENSP00000346022:N42D|.	N|Q	-|-	1|2	0|0	RPL9|RPL9	39136247|39136247	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	7.658000|7.658000	0.83755|0.83755	2.200000|2.200000	0.70718|0.70718	0.459000|0.459000	0.35465|0.35465	AAT|CAA		0.458	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
RPL9	6133	broad.mit.edu	37	4	39462506	39462506	+	5'Flank	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39462506T>G	ENST00000449470.2	-	0	0				LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Missense_Mutation_p.F48V|LIAS_ENST00000261434.3_Missense_Mutation_p.F48V|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000340169.2_Missense_Mutation_p.F48V|LIAS_ENST00000381846.1_Missense_Mutation_p.F48V	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.F48V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CCTTCAAGATTTTGTATCTGG	0.393																																					p.F48V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T142G	4						.						90.0	100.0	97.0					4																	39462506		2203	4300	6503	39138901	SO:0001631	upstream_gene_variant	11019	exon2			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462506T>G	Exception_encountered		39138901	NM_194451		Missense_Mutation	SNP	ENST00000449470.2	37	CCDS3452.1	.	.	.	.	.	.	.	.	.	.	T	31	5.073446	0.94000	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000513731;ENST00000381846	D;D;T;D	0.85088	-1.72;-1.7;-1.19;-1.94	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.997;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.995;0.992;0.999;1.0	D	0.92787	0.6245	10	0.87932	D	0	-24.1896	15.8056	0.78506	0.0:0.0:0.0:1.0	.	48;48;48;48;48	B4E0L7;C9JCF6;D6RCP8;O43766;Q6P5Q6	.;.;.;LIAS_HUMAN;.	V	48	ENSP00000340676:F48V;ENSP00000261434:F48V;ENSP00000425580:F48V;ENSP00000371270:F48V	ENSP00000261434:F48V	F	+	1	0	LIAS	39138901	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.430000	0.80321	2.323000	0.78572	0.528000	0.53228	TTT		0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
PDS5A	23244	broad.mit.edu	37	4	39868539	39868539	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39868539G>A	ENST00000303538.8	-	23	3123	c.2584C>T	c.(2584-2586)Cgg>Tgg	p.R862W		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.R862W(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATAATAACCGAAGGGTTGAA	0.383																																					p.R862W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2584T	4						.						70.0	66.0	68.0					4																	39868539		1871	4117	5988	39544934	SO:0001583	missense	23244	exon23			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2584C>T	4.37:g.39868539G>A	ENSP00000303427:p.Arg862Trp		39544934	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865982	0.91511	.	.	ENSG00000121892	ENST00000303538	T	0.66460	-0.21	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83567	0.0110	9	.	.	.	-9.2882	19.4681	0.94951	0.0:0.0:1.0:0.0	.	862	Q29RF7	PDS5A_HUMAN	W	862	ENSP00000303427:R862W	.	R	-	1	2	PDS5A	39544934	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.511000	0.67024	2.581000	0.87130	0.655000	0.94253	CGG		0.383	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
PDS5A	23244	broad.mit.edu	37	4	39924318	39924318	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:39924318G>T	ENST00000303538.8	-	6	1117	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	PDS5A_ENST00000503396.1_Missense_Mutation_p.S193Y	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.S193Y(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CATGATGATAGAACTCATCAA	0.333																																					p.S193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578A	4						.						114.0	105.0	108.0					4																	39924318		1874	4105	5979	39600713	SO:0001583	missense	23244	exon6			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.578C>A	4.37:g.39924318G>T	ENSP00000303427:p.Ser193Tyr		39600713	NM_001100399		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689780	0.88735	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T;T	0.69685	-0.17;-0.42	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.979;0.999	P;D	0.79784	0.896;0.993	T	0.76921	-0.2780	9	.	.	.	-14.2694	20.3046	0.98621	0.0:0.0:1.0:0.0	.	193;193	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	Y	193	ENSP00000303427:S193Y;ENSP00000426749:S193Y	.	S	-	2	0	PDS5A	39600713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.878000	0.98634	0.650000	0.86243	TCT		0.333	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
N4BP2	55728	broad.mit.edu	37	4	40122870	40122870	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:40122870G>T	ENST00000261435.6	+	9	3555	c.3139G>T	c.(3139-3141)Gat>Tat	p.D1047Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1047					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.D1047Y(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGGAAGATTAGATGGATTTAA	0.318																																					p.D1047Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3139T	4						.						53.0	56.0	55.0					4																	40122870		2199	4297	6496	39799265	SO:0001583	missense	55728	exon9			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3139G>T	4.37:g.40122870G>T	ENSP00000261435:p.Asp1047Tyr		39799265	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.140154|3.140154	0.56936|0.56936	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.21361|.	2.01|.	6.04|6.04	5.2|5.2	0.72013|0.72013	.|.	0.322733|.	0.32703|.	N|.	0.005745|.	T|T	0.66992|0.66992	0.2846|0.2846	M|M	0.61703|0.61703	1.905|1.905	0.34929|0.34929	D|D	0.749203|0.749203	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.65874|.	0.939;0.87|.	T|T	0.75317|0.75317	-0.3360|-0.3360	10|5	0.66056|.	D|.	0.02|.	-17.4266|-17.4266	15.5397|15.5397	0.76031|0.76031	0.0661:0.0:0.9339:0.0|0.0661:0.0:0.9339:0.0	.|.	1047;1047|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Y|I	1047;967|693	ENSP00000261435:D1047Y|.	ENSP00000261435:D1047Y|.	D|R	+|+	1|2	0|0	N4BP2|N4BP2	39799265|39799265	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	5.260000|5.260000	0.65490|0.65490	1.568000|1.568000	0.49683|0.49683	0.563000|0.563000	0.77884|0.77884	GAT|AGA		0.318	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
N4BP2	55728	broad.mit.edu	37	4	40123067	40123067	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:40123067G>T	ENST00000261435.6	+	9	3752	c.3336G>T	c.(3334-3336)gaG>gaT	p.E1112D		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1112					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.E1112D(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTTATATGAGAGGTGCAATA	0.353																																					p.E1112D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3336T	4						.						69.0	75.0	73.0					4																	40123067		2201	4299	6500	39799462	SO:0001583	missense	55728	exon9			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3336G>T	4.37:g.40123067G>T	ENSP00000261435:p.Glu1112Asp		39799462	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.878963|2.878963	0.51801|0.51801	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.23147|.	1.92|.	5.86|5.86	3.2|3.2	0.36748|0.36748	.|.	0.056024|0.056024	0.64402|0.64402	D|D	0.000002|0.000002	T|.	0.62134|.	0.2403|.	M|M	0.63843|0.63843	1.955|1.955	0.35897|0.35897	D|D	0.830133|0.830133	D;D|.	0.65815|.	0.995;0.991|.	D;P|.	0.67548|.	0.952;0.896|.	T|.	0.69939|.	-0.5009|.	10|.	0.49607|0.87932	T|D	0.09|0	-14.823|-14.823	7.9874|7.9874	0.30220|0.30220	0.4199:0.0:0.5801:0.0|0.4199:0.0:0.5801:0.0	.|.	1112;1112|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	D|X	1112;1032|759	ENSP00000261435:E1112D|.	ENSP00000261435:E1112D|ENSP00000426430:E759X	E|E	+|+	3|1	2|0	N4BP2|N4BP2	39799462|39799462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	1.146000|1.146000	0.31589|0.31589	0.824000|0.824000	0.34613|0.34613	0.563000|0.563000	0.77884|0.77884	GAG|GAG		0.353	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
CHRNA9	55584	broad.mit.edu	37	4	40339234	40339234	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:40339234G>T	ENST00000310169.2	+	3	357	c.218G>T	c.(217-219)aGa>aTa	p.R73I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	73					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.R73I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	TAGGATGAAAGAAACCAAATT	0.443																																					p.R73I	Esophageal Squamous(115;1297 1602 22235 25158 43327)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218T	4						.						102.0	79.0	87.0					4																	40339234		2203	4300	6503	40033991	SO:0001583	missense	55584	exon3			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.218G>T	4.37:g.40339234G>T	ENSP00000312663:p.Arg73Ile		40033991	NM_017581	Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759737	0.69763	.	.	ENSG00000174343	ENST00000310169	T	0.78924	-1.22	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.128789	0.64402	D	0.000001	D	0.88948	0.6576	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.89255	0.3593	10	0.87932	D	0	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	73	Q9UGM1	ACHA9_HUMAN	I	73	ENSP00000312663:R73I	ENSP00000312663:R73I	R	+	2	0	CHRNA9	40033991	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	7.594000	0.82698	2.771000	0.95319	0.591000	0.81541	AGA		0.443	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
CHRNA9	55584	broad.mit.edu	37	4	40356519	40356519	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:40356519C>A	ENST00000310169.2	+	5	1561	c.1422C>A	c.(1420-1422)atC>atA	p.I474I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	474					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)	p.I474I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CTATTTTGATCATAGCAAGAG	0.378																																					p.I474I	Esophageal Squamous(115;1297 1602 22235 25158 43327)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1422A	4						.						152.0	146.0	148.0					4																	40356519		2203	4300	6503	40051276	SO:0001819	synonymous_variant	55584	exon5			AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.1422C>A	4.37:g.40356519C>A			40051276	NM_017581	Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	CCDS3459.1																																																																																				0.378	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1		
RBM47	54502	broad.mit.edu	37	4	40440431	40440431	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:40440431C>T	ENST00000381793.2	-	3	876	c.480G>A	c.(478-480)aaG>aaA	p.K160K	RBM47_ENST00000514014.1_Silent_p.K122K|RBM47_ENST00000295971.7_Silent_p.K160K|RBM47_ENST00000319592.4_Silent_p.K160K|RBM47_ENST00000381795.6_Silent_p.K160K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	160	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K160K(2)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCTTCTTCATCTTGGGGATCC	0.627																																					p.K160K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G480A	4						.						47.0	42.0	44.0					4																	40440431		2200	4298	6498	40135188	SO:0001819	synonymous_variant	54502	exon3			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.480G>A	4.37:g.40440431C>T			40135188	NM_019027	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	CCDS43223.1																																																																																				0.627	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
UCHL1	7345	broad.mit.edu	37	4	41270067	41270067	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41270067G>A	ENST00000284440.4	+	9	793	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	UCHL1_ENST00000512788.1_Silent_p.P226P|UCHL1_ENST00000503431.1_Missense_Mutation_p.V217M|UCHL1_ENST00000508768.1_Missense_Mutation_p.V201M	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	217					adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V217M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CTTCTCTGCCGTGGCTCTCTG	0.498																																					p.V217M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	4						.						68.0	59.0	62.0					4																	41270067		2203	4300	6503	40964824	SO:0001583	missense	7345	exon9			BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.649G>A	4.37:g.41270067G>A	ENSP00000284440:p.Val217Met		40964824	NM_004181	Q4W5K6|Q71UM0	Missense_Mutation	SNP	ENST00000284440.4	37	CCDS3462.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684277	0.47991	.	.	ENSG00000154277	ENST00000284440;ENST00000508768	T;T	0.62788	-0.0;-0.0	5.12	5.12	0.69794	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.206051	0.42053	D	0.000770	T	0.63343	0.2503	L	0.42632	1.34	0.80722	D	1	D	0.89917	1.0	P	0.54312	0.748	T	0.58289	-0.7662	10	0.02654	T	1	-22.1999	18.7483	0.91802	0.0:0.0:1.0:0.0	.	217	P09936	UCHL1_HUMAN	M	217;201	ENSP00000284440:V217M;ENSP00000426895:V201M	ENSP00000284440:V217M	V	+	1	0	UCHL1	40964824	1.000000	0.71417	0.961000	0.40146	0.932000	0.56968	6.955000	0.76007	2.660000	0.90430	0.563000	0.77884	GTG		0.498	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1	NM_004181	
LIMCH1	22998	broad.mit.edu	37	4	41607941	41607941	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41607941G>A	ENST00000313860.7	+	6	460	c.406G>A	c.(406-408)Gca>Aca	p.A136T	LIMCH1_ENST00000512820.1_Missense_Mutation_p.A136T|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000508501.1_Missense_Mutation_p.A136T|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000512946.1_Missense_Mutation_p.A136T|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000511496.1_5'UTR|LIMCH1_ENST00000512632.1_Missense_Mutation_p.A136T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	136					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.A136T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCTGGGAAAAGCAGCAAACAG	0.423																																					p.A136T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	4						.						120.0	108.0	112.0					4																	41607941		2203	4300	6503	41302698	SO:0001583	missense	22998	exon6			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.406G>A	4.37:g.41607941G>A	ENSP00000316891:p.Ala136Thr		41302698	NM_001112717	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	5'UTR	SNP	ENST00000313860.7	37	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022853	0.93462	.	.	ENSG00000064042	ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.56	5.56	0.83823	Calponin homology domain (2);	0.000000	0.50627	U	0.000119	T	0.65460	0.2693	N	0.21583	0.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.999;0.998;0.999	T	0.62840	-0.6769	10	0.30854	T	0.27	.	19.5257	0.95206	0.0:0.0:1.0:0.0	.	136;136;136;136;136	D6RD46;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;LIMC1_HUMAN	T	136	ENSP00000424825:A136T;ENSP00000424645:A136T;ENSP00000316891:A136T;ENSP00000427045:A136T;ENSP00000424437:A136T	ENSP00000316891:A136T	A	+	1	0	LIMCH1	41302698	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.360000	0.66086	2.614000	0.88457	0.655000	0.94253	GCA		0.423	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
LIMCH1	22998	broad.mit.edu	37	4	41648621	41648621	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41648621G>A	ENST00000313860.7	+	12	1430	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	LIMCH1_ENST00000512820.1_Missense_Mutation_p.R447H|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R459H|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R288H|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R293H|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R459H|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R844H|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R305H|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R300H|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R459H|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R293H|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R300H	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	459					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R459H(1)|p.R844H(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTCTCGAACGCTTGGAGATG	0.488																																					p.R293H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G878A	4						.						158.0	163.0	161.0					4																	41648621		2203	4300	6503	41343378	SO:0001583	missense	22998	exon6			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1376G>A	4.37:g.41648621G>A	ENSP00000316891:p.Arg459His		41343378	NM_001112720	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.522195|4.522195	0.85600|0.85600	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.53640	.|0.84;1.23;1.21;1.23;0.84;1.24;0.62;0.62;0.61;0.84;0.84;0.62	5.61|5.61	4.76|4.76	0.60689|0.60689	.|.	.|0.062950	.|0.64402	.|D	.|0.000004	T|T	0.62270|0.62270	0.2414|0.2414	L|L	0.50333|0.50333	1.59|1.59	0.49915|0.49915	D|D	0.999835|0.999835	.|D;P;D;P;P;D;P;D;D;D;D	.|0.89917	.|0.999;0.796;0.999;0.87;0.87;1.0;0.87;1.0;1.0;1.0;1.0	.|D;B;D;B;B;D;B;D;D;D;D	.|0.87578	.|0.925;0.194;0.925;0.355;0.355;0.997;0.254;0.998;0.996;0.998;0.996	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.72032	.|D	.|0.01	-11.3778|-11.3778	13.9163|13.9163	0.63899|0.63899	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.	.|210;293;459;293;305;844;288;447;459;459;459	.|B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	T|H	294|288;459;459;459;459;447;844;300;843;300;293;305;293	.|ENSP00000425222:R288H;ENSP00000424825:R459H;ENSP00000424645:R459H;ENSP00000316891:R459H;ENSP00000427045:R459H;ENSP00000424437:R447H;ENSP00000425631:R844H;ENSP00000421242:R300H;ENSP00000426334:R300H;ENSP00000422864:R293H;ENSP00000379840:R305H;ENSP00000371172:R293H	.|ENSP00000316891:R459H	A|R	+|+	1|2	0|0	LIMCH1|LIMCH1	41343378|41343378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.586000|4.586000	0.60984|0.60984	2.627000|2.627000	0.88993|0.88993	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.488	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
LIMCH1	22998	broad.mit.edu	37	4	41648885	41648885	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41648885C>A	ENST00000313860.7	+	12	1694	c.1640C>A	c.(1639-1641)tCt>tAt	p.S547Y	LIMCH1_ENST00000512820.1_Missense_Mutation_p.S535Y|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S547Y|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S376Y|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S381Y|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S547Y|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S932Y|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S393Y|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S388Y|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S547Y|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S381Y|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S388Y	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	547					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.S547Y(1)|p.S932Y(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCAAAAATTCTCAAGATGTT	0.478																																					p.S381Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1142A	4						.						88.0	94.0	92.0					4																	41648885		2203	4300	6503	41343642	SO:0001583	missense	22998	exon6			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1640C>A	4.37:g.41648885C>A	ENSP00000316891:p.Ser547Tyr		41343642	NM_001112720	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.614722|4.614722	0.87359|0.87359	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.49720	.|0.78;1.37;1.39;1.37;0.78;1.36;0.77;0.81;0.77;0.78;0.81;0.78	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.185181	.|0.47455	.|D	.|0.000239	T|T	0.65249|0.65249	0.2673|0.2673	L|L	0.48642|0.48642	1.525|1.525	0.43608|0.43608	D|D	0.995972|0.995972	.|D;D;D;D;D;D;D;D;D;D;D	.|0.69078	.|0.966;0.994;0.988;0.98;0.98;0.997;0.98;0.991;0.984;0.991;0.972	.|P;P;P;P;P;D;P;P;P;P;P	.|0.83275	.|0.702;0.885;0.862;0.844;0.844;0.996;0.844;0.904;0.736;0.865;0.794	T|T	0.64499|0.64499	-0.6393|-0.6393	5|10	.|0.62326	.|D	.|0.03	-14.2719|-14.2719	19.6863|19.6863	0.95981|0.95981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|298;381;547;381;393;932;376;535;547;547;547	.|B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	I|Y	382|376;547;547;547;547;535;932;388;931;388;381;393;381	.|ENSP00000425222:S376Y;ENSP00000424825:S547Y;ENSP00000424645:S547Y;ENSP00000316891:S547Y;ENSP00000427045:S547Y;ENSP00000424437:S535Y;ENSP00000425631:S932Y;ENSP00000421242:S388Y;ENSP00000426334:S388Y;ENSP00000422864:S381Y;ENSP00000379840:S393Y;ENSP00000371172:S381Y	.|ENSP00000316891:S547Y	L|S	+|+	1|2	0|0	LIMCH1|LIMCH1	41343642|41343642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	2.882000|2.882000	0.48546|0.48546	2.746000|2.746000	0.94184|0.94184	0.591000|0.591000	0.81541|0.81541	CTC|TCT		0.478	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
LIMCH1	22998	broad.mit.edu	37	4	41664931	41664931	+	Missense_Mutation	SNP	C	C	T	rs375067265		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41664931C>T	ENST00000313860.7	+	15	2120	c.2066C>T	c.(2065-2067)tCg>tTg	p.S689L	LIMCH1_ENST00000512820.1_Missense_Mutation_p.S677L|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S689L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S518L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S523L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S689L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S1074L|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S535L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S530L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S689L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S523L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S530L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	689					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.S1074L(1)|p.S689L(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AATGATGTGTCGGAAGAAAAA	0.478																																					p.S523L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1568T	4						.	C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	69.0	68.0	68.0		2066,2066,1604,1568,2066	1.0	0.0	4		68	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	145,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	689/1058,689/1057,535/903,523/891,689/1084	41664931	1,13005	2203	4300	6503	41359688	SO:0001583	missense	22998	exon9			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2066C>T	4.37:g.41664931C>T	ENSP00000316891:p.Ser689Leu		41359688	NM_001112720	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.243|2.243	-0.373317|-0.373317	0.05034|0.05034	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.08|5.08	1.01|1.01	0.19927|0.19927	.|.	.|0.992506	.|0.08195	.|N	.|0.983188	T|T	0.19967|0.19967	0.0480|0.0480	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B;B;B;B	.|0.15473	.|0.0;0.0;0.0;0.0;0.001;0.013;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B;B;B;B	.|0.13407	.|0.0;0.0;0.001;0.001;0.002;0.009;0.0;0.001;0.0;0.001;0.0	T|T	0.21999|0.21999	-1.0229|-1.0229	5|10	.|0.45353	.|T	.|0.12	-1.1145|-1.1145	1.7598|1.7598	0.02989|0.02989	0.1658:0.4859:0.1612:0.1872|0.1658:0.4859:0.1612:0.1872	.|.	.|440;523;689;523;535;1074;518;677;689;689;689	.|B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	W|L	524|518;689;689;689;689;677;1074;530;1073;530;523;535;523;42	.|ENSP00000425222:S518L;ENSP00000424825:S689L;ENSP00000424645:S689L;ENSP00000316891:S689L;ENSP00000427045:S689L;ENSP00000424437:S677L;ENSP00000425631:S1074L;ENSP00000421242:S530L;ENSP00000426334:S530L;ENSP00000422864:S523L;ENSP00000379840:S535L;ENSP00000371172:S523L	.|ENSP00000316891:S689L	R|S	+|+	1|2	2|0	LIMCH1|LIMCH1	41359688|41359688	0.083000|0.083000	0.21467|0.21467	0.036000|0.036000	0.18154|0.18154	0.001000|0.001000	0.01503|0.01503	0.450000|0.450000	0.21762|0.21762	0.525000|0.525000	0.28522|0.28522	-0.309000|-0.309000	0.09137|0.09137	CGG|TCG		0.478	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
PHOX2B	8929	broad.mit.edu	37	4	41750422	41750422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:41750422G>T	ENST00000226382.2	-	1	565	c.206C>A	c.(205-207)aCc>aAc	p.T69N	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	69					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.T69N(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GTCCCTGAGGGTGCCCAGGCT	0.617			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.T69N		yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206A	4						.						38.0	40.0	39.0					4																	41750422		2203	4300	6503	41445179	SO:0001583	missense	8929	exon1	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.206C>A	4.37:g.41750422G>T	ENSP00000226382:p.Thr69Asn		41445179	NM_003924	Q6PJD9	Missense_Mutation	SNP	ENST00000226382.2	37	CCDS3463.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682612	0.29872	.	.	ENSG00000109132	ENST00000226382	D	0.90900	-2.75	5.56	4.66	0.58398	.	0.049916	0.85682	D	0.000000	T	0.79834	0.4514	N	0.08118	0	0.45930	D	0.998765	B	0.20368	0.044	B	0.13407	0.009	T	0.74624	-0.3603	10	0.14656	T	0.56	.	15.265	0.73654	0.0:0.2485:0.7515:0.0	.	69	Q99453	PHX2B_HUMAN	N	69	ENSP00000226382:T69N	ENSP00000226382:T69N	T	-	2	0	PHOX2B	41445179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.353000	0.73032	2.615000	0.88500	0.561000	0.74099	ACC		0.617	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216832.2		
SLC30A9	10463	broad.mit.edu	37	4	42020145	42020145	+	Nonsense_Mutation	SNP	G	G	T	rs552013390		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42020145G>T	ENST00000264451.7	+	3	472	c.292G>T	c.(292-294)Gaa>Taa	p.E98*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	98					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E98*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATAGGCACAGAACTCAAAGC	0.259																																					p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	4						.						39.0	40.0	40.0					4																	42020145		2202	4292	6494	41714902	SO:0001587	stop_gained	10463	exon3			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.292G>T	4.37:g.42020145G>T	ENSP00000264451:p.Glu98*		41714902	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Nonsense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600425	0.66332	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.35	3.61	0.41365	.	0.456397	0.25264	N	0.031927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.9664	7.4064	0.26993	0.0904:0.1691:0.7405:0.0	.	.	.	.	X	98	.	ENSP00000264451:E98X	E	+	1	0	SLC30A9	41714902	0.970000	0.33590	0.954000	0.39281	0.537000	0.34900	1.694000	0.37752	0.640000	0.30582	-0.242000	0.12053	GAA		0.259	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
SLC30A9	10463	broad.mit.edu	37	4	42080286	42080286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42080286G>T	ENST00000264451.7	+	17	1786	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	536					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E536*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAACATGGAGAAAATATTAT	0.284																																					p.E536X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1606T	4						.						53.0	59.0	57.0					4																	42080286		2201	4298	6499	41775043	SO:0001587	stop_gained	10463	exon17			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1606G>T	4.37:g.42080286G>T	ENSP00000264451:p.Glu536*		41775043	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Nonsense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	39	7.594098	0.98378	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.428	19.8737	0.96861	0.0:0.0:1.0:0.0	.	.	.	.	X	536;364	.	ENSP00000264451:E536X	E	+	1	0	SLC30A9	41775043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.185000	0.94900	2.693000	0.91896	0.650000	0.86243	GAA		0.284	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
BEND4	389206	broad.mit.edu	37	4	42145764	42145764	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42145764A>C	ENST00000502486.1	-	3	1314	c.735T>G	c.(733-735)ttT>ttG	p.F245L	BEND4_ENST00000504360.1_Missense_Mutation_p.F241L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	245								p.F241L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAACCCTCAAAAAGGCAGAAG	0.478																																					p.F245L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T735G	4						.						116.0	119.0	118.0					4																	42145764		1905	4124	6029	41840521	SO:0001583	missense	389206	exon3			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.735T>G	4.37:g.42145764A>C	ENSP00000421169:p.Phe245Leu		41840521	NM_001159547	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305084	0.40795	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	-6.15	0.02105	.	0.111270	0.64402	D	0.000008	T	0.40909	0.1136	N	0.24115	0.695	0.45621	D	0.99855	P;P;P	0.38335	0.627;0.493;0.627	B;B;B	0.39258	0.295;0.155;0.295	T	0.37033	-0.9723	9	0.66056	D	0.02	-15.0424	16.8761	0.86052	0.3816:0.0:0.6184:0.0	.	167;245;245	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	L	116;245;241	.	ENSP00000412495:F116L	F	-	3	2	BEND4	41840521	0.936000	0.31750	0.371000	0.25978	0.063000	0.16089	0.118000	0.15605	-1.101000	0.03027	-0.912000	0.02778	TTT		0.478	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406	
BEND4	389206	broad.mit.edu	37	4	42145958	42145958	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42145958G>T	ENST00000502486.1	-	3	1120	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	BEND4_ENST00000504360.1_Missense_Mutation_p.L177I	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	181								p.L177I(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CAATTTAAGAGGCTAAGAACT	0.463																																					p.L181I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C541A	4						.						46.0	43.0	44.0					4																	42145958		1926	4134	6060	41840715	SO:0001583	missense	389206	exon3			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.541C>A	4.37:g.42145958G>T	ENSP00000421169:p.Leu181Ile		41840715	NM_001159547	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053965	0.55218	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.72	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.83275	0.996;0.991;0.996	T	0.70590	-0.4830	9	0.87932	D	0	-17.1521	14.6407	0.68723	0.0696:0.0:0.9304:0.0	.	103;181;181	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	I	52;181;177	.	ENSP00000412495:L52I	L	-	1	0	BEND4	41840715	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.641000	0.83368	1.429000	0.47314	0.655000	0.94253	CTC		0.463	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406	
ATP8A1	10396	broad.mit.edu	37	4	42445676	42445676	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42445676G>A	ENST00000381668.5	-	33	3260	c.3029C>T	c.(3028-3030)gCg>gTg	p.A1010V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A995V|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1010					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1010V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCCCCATATCGCTATGTGGCT	0.438																																					p.A1010V												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.C3029T	4						.						98.0	87.0	91.0					4																	42445676		2203	4300	6503	42140433	SO:0001583	missense	10396	exon33			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3029C>T	4.37:g.42445676G>A	ENSP00000371084:p.Ala1010Val		42140433	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464768	0.84425	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.89050	-2.46;-2.46	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	D	0.86460	0.5938	L	0.53561	1.675	0.80722	D	1	B;P;P	0.43633	0.268;0.813;0.813	B;B;B	0.36244	0.075;0.22;0.22	D	0.86479	0.1790	10	0.39692	T	0.17	.	19.4234	0.94730	0.0:0.0:1.0:0.0	.	995;1010;1002	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	1010;995	ENSP00000371084:A1010V;ENSP00000264449:A995V	ENSP00000264449:A995V	A	-	2	0	ATP8A1	42140433	1.000000	0.71417	0.903000	0.35520	0.956000	0.61745	9.356000	0.97091	2.602000	0.87976	0.655000	0.94253	GCG		0.438	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42545974	42545974	+	Missense_Mutation	SNP	C	C	T	rs556457468		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42545974C>T	ENST00000381668.5	-	20	1913	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R546H	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	561					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R561H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGATGGAGTGCGAACAATCAC	0.333																																					p.R561H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1682A	4						.						109.0	94.0	99.0					4																	42545974		2203	4300	6503	42240731	SO:0001583	missense	10396	exon20			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1682G>A	4.37:g.42545974C>T	ENSP00000371084:p.Arg561His		42240731	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732792	0.89482	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.83163	-1.69;-1.69	5.95	5.1	0.69264	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.93566	0.7946	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.79784	0.494;0.993;0.993	D	0.95334	0.8432	10	0.87932	D	0	.	16.497	0.84247	0.1321:0.8679:0.0:0.0	.	546;546;561	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	H	561;546	ENSP00000371084:R561H;ENSP00000264449:R546H	ENSP00000264449:R546H	R	-	2	0	ATP8A1	42240731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.864000	0.75494	1.503000	0.48686	0.650000	0.86243	CGC		0.333	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42551064	42551064	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42551064T>G	ENST00000381668.5	-	19	1849	c.1618A>C	c.(1618-1620)Aga>Cga	p.R540R	ATP8A1_ENST00000264449.10_Silent_p.R525R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	540					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R540R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATTCATATCTTTCTTCCTGC	0.308																																					p.R540R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1618C	4						.						82.0	88.0	86.0					4																	42551064		2203	4297	6500	42245821	SO:0001819	synonymous_variant	10396	exon19			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1618A>C	4.37:g.42551064T>G			42245821	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42553235	42553235	+	Missense_Mutation	SNP	C	C	T	rs372291630		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42553235C>T	ENST00000381668.5	-	18	1813	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	ATP8A1_ENST00000264449.10_Missense_Mutation_p.D513N	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	528					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D528N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATCACCGAGTCGGGTGTTCTT	0.348																																					p.D528N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1582A	4						.	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	116.0	121.0	120.0		1537,1582	5.5	1.0	4		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	513/1150,528/1165	42553235	1,13005	2203	4300	6503	42247992	SO:0001583	missense	10396	exon18			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1582G>A	4.37:g.42553235C>T	ENSP00000371084:p.Asp528Asn		42247992	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037010	0.19669	0.0	1.16E-4	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.61158	0.13;0.13	5.49	5.49	0.81192	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.055179	0.64402	D	0.000001	T	0.33527	0.0866	N	0.11201	0.11	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.13407	0.003;0.009;0.005	T	0.23440	-1.0188	10	0.09590	T	0.72	.	9.9511	0.41638	0.0:0.8496:0.0:0.1504	.	513;513;528	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	N	528;513	ENSP00000371084:D528N;ENSP00000264449:D513N	ENSP00000264449:D513N	D	-	1	0	ATP8A1	42247992	0.903000	0.30736	1.000000	0.80357	0.917000	0.54804	1.562000	0.36353	2.572000	0.86782	0.585000	0.79938	GAC		0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42581868	42581868	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42581868C>T	ENST00000381668.5	-	11	1193	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R321Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	321					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R321Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGAATGCCTTCGATTCCAAAT	0.338																																					p.R321Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962A	4						.						73.0	73.0	73.0					4																	42581868		2203	4300	6503	42276625	SO:0001583	missense	10396	exon11			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.962G>A	4.37:g.42581868C>T	ENSP00000371084:p.Arg321Gln		42276625	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383081	0.25031	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74421	-0.84;-0.84	5.86	5.01	0.66863	ATPase, P-type, ATPase-associated domain (1);	0.232071	0.39083	N	0.001465	T	0.56949	0.2020	L	0.31526	0.94	0.80722	D	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.49881	-0.8892	10	0.15066	T	0.55	.	7.1084	0.25376	0.0:0.6937:0.1545:0.1518	.	321;321;321	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Q	321	ENSP00000371084:R321Q;ENSP00000264449:R321Q	ENSP00000264449:R321Q	R	-	2	0	ATP8A1	42276625	0.993000	0.37304	1.000000	0.80357	0.924000	0.55760	0.307000	0.19296	2.937000	0.99478	0.650000	0.86243	CGA		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42583721	42583721	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:42583721G>T	ENST00000381668.5	-	10	982	c.751C>A	c.(751-753)Ctt>Att	p.L251I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L251I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	251					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L251I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCTCGAAGAAGAATCTGATCT	0.398																																					p.L251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751A	4						.						137.0	124.0	128.0					4																	42583721		2203	4300	6503	42278478	SO:0001583	missense	10396	exon10			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.751C>A	4.37:g.42583721G>T	ENSP00000371084:p.Leu251Ile		42278478	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253576	0.80135	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.90844	-2.74;-2.74	5.92	5.92	0.95590	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000001	D	0.95379	0.8500	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	0.979;1.0;0.998	D;D;D	0.91635	0.982;0.999;0.951	D	0.94352	0.7580	10	0.48119	T	0.1	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	251;251;251	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	I	251	ENSP00000371084:L251I;ENSP00000264449:L251I	ENSP00000264449:L251I	L	-	1	0	ATP8A1	42278478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.419000	0.73345	2.809000	0.96659	0.467000	0.42956	CTT		0.398	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
GRXCR1	389207	broad.mit.edu	37	4	43032519	43032519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:43032519G>T	ENST00000399770.2	+	4	835	c.835G>T	c.(835-837)Gaa>Taa	p.E279*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	279					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.E279*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGCTTGCAATGAAAATGGTCT	0.423																																					p.E279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	4						.						158.0	148.0	151.0					4																	43032519		1901	4121	6022	42727276	SO:0001587	stop_gained	389207	exon4				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.835G>T	4.37:g.43032519G>T	ENSP00000382670:p.Glu279*		42727276	NM_001080476		Nonsense_Mutation	SNP	ENST00000399770.2	37	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565966	0.86439	.	.	ENSG00000215203	ENST00000399770	.	.	.	5.64	5.64	0.86602	.	0.077879	0.49916	U	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.6416	18.6692	0.91504	0.0:0.0:1.0:0.0	.	.	.	.	X	279	.	ENSP00000382670:E279X	E	+	1	0	GRXCR1	42727276	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	9.398000	0.97281	2.649000	0.89929	0.579000	0.79373	GAA		0.423	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476	
GUF1	60558	broad.mit.edu	37	4	44688550	44688550	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:44688550C>A	ENST00000281543.5	+	8	952	c.758C>A	c.(757-759)cCt>cAt	p.P253H	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.P253H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CGCAAAAATCCTCTGAGAGCT	0.303																																					p.P253H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C758A	4						.						91.0	87.0	88.0					4																	44688550		2203	4299	6502	44383307	SO:0001583	missense	60558	exon8				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.758C>A	4.37:g.44688550C>A	ENSP00000281543:p.Pro253His		44383307	NM_021927		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806905	0.90623	.	.	ENSG00000151806	ENST00000281543	T	0.37235	1.21	5.61	5.61	0.85477	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.052068	0.85682	D	0.000000	T	0.62804	0.2458	M	0.91300	3.195	0.80722	D	1	D	0.54397	0.966	P	0.53224	0.721	T	0.72603	-0.4243	10	0.87932	D	0	-1.5326	18.629	0.91352	0.0:1.0:0.0:0.0	.	253	Q8N442	GUF1_HUMAN	H	253	ENSP00000281543:P253H	ENSP00000281543:P253H	P	+	2	0	GUF1	44383307	0.995000	0.38212	0.985000	0.45067	0.988000	0.76386	2.344000	0.44010	2.658000	0.90341	0.585000	0.79938	CCT		0.303	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	
GABRA2	2555	broad.mit.edu	37	4	46252531	46252531	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:46252531G>T	ENST00000510861.1	-	10	1323	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GABRA2_ENST00000514090.1_Missense_Mutation_p.L384I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L384I|GABRA2_ENST00000507069.1_Missense_Mutation_p.L444I|GABRA2_ENST00000540012.1_Missense_Mutation_p.L389I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L384I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	384					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.L384I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATGGTGGAGAGAACTGGATCT	0.418																																					p.L384I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1150A	4						.						160.0	160.0	160.0					4																	46252531		2203	4299	6502	45947288	SO:0001583	missense	2555	exon10				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1150C>A	4.37:g.46252531G>T	ENSP00000421828:p.Leu384Ile		45947288	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732330	0.48939	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.060792	0.64402	D	0.000002	D	0.84188	0.5417	N	0.21282	0.65	0.22457	N	0.999083	P;B	0.49961	0.93;0.153	P;B	0.48425	0.577;0.095	T	0.75473	-0.3305	10	0.23302	T	0.38	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	389;384	B7Z1H8;P47869	.;GBRA2_HUMAN	I	384;384;384;384;389;444	ENSP00000421828:L384I;ENSP00000421300:L384I;ENSP00000371033:L384I;ENSP00000348897:L384I;ENSP00000444409:L389I;ENSP00000427603:L444I	ENSP00000348897:L384I	L	-	1	0	GABRA2	45947288	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	4.011000	0.57124	2.827000	0.97445	0.655000	0.94253	CTC		0.418	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA2	2555	broad.mit.edu	37	4	46264083	46264083	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:46264083C>A	ENST00000510861.1	-	9	1092	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	GABRA2_ENST00000514090.1_Missense_Mutation_p.V307L|GABRA2_ENST00000356504.1_Missense_Mutation_p.V307L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V307L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V252L|GABRA2_ENST00000381620.4_Missense_Mutation_p.V307L|GABRA2_ENST00000515082.1_Missense_Mutation_p.V307L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	307					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.V307L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCATAAGCCACTTTGGGGAGA	0.393																																					p.V307L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919T	4						.						129.0	118.0	122.0					4																	46264083		2203	4300	6503	45958840	SO:0001583	missense	2555	exon9				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.919G>T	4.37:g.46264083C>A	ENSP00000421828:p.Val307Leu		45958840	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246394	0.95305	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.87578	0.998;0.998;0.997	D	0.95256	0.8364	10	0.87932	D	0	.	18.4017	0.90519	0.0:1.0:0.0:0.0	.	252;307;307	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	307;307;307;307;252;307;307	ENSP00000421828:V307L;ENSP00000421300:V307L;ENSP00000371033:V307L;ENSP00000348897:V307L;ENSP00000444409:V252L;ENSP00000427603:V307L;ENSP00000423840:V307L	ENSP00000348897:V307L	V	-	1	0	GABRA2	45958840	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.765000	0.85310	2.676000	0.91093	0.591000	0.81541	GTG		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA2	2555	broad.mit.edu	37	4	46334637	46334637	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:46334637C>A	ENST00000510861.1	-	4	423	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	GABRA2_ENST00000514090.1_Missense_Mutation_p.D84Y|GABRA2_ENST00000356504.1_Missense_Mutation_p.D84Y|GABRA2_ENST00000507069.1_Missense_Mutation_p.D84Y|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000381620.4_Missense_Mutation_p.D84Y|GABRA2_ENST00000515082.1_Missense_Mutation_p.D84Y			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	84					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|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.D84Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCACCATATCTGTATCTGAG	0.308																																					p.D84Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250T	4						.						80.0	84.0	82.0					4																	46334637		2203	4300	6503	46029394	SO:0001583	missense	2555	exon4				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.250G>T	4.37:g.46334637C>A	ENSP00000421828:p.Asp84Tyr		46029394	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655376	0.67586	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051345	0.85682	D	0.000000	D	0.89420	0.6710	M	0.90595	3.13	0.80722	D	1	P;D	0.67145	0.9;0.996	P;D	0.67103	0.813;0.949	D	0.91391	0.5135	10	0.87932	D	0	.	15.8633	0.79043	0.0:1.0:0.0:0.0	.	84;84	G5E9Z6;P47869	.;GBRA2_HUMAN	Y	84	ENSP00000421828:D84Y;ENSP00000421300:D84Y;ENSP00000371033:D84Y;ENSP00000348897:D84Y;ENSP00000427603:D84Y;ENSP00000423840:D84Y;ENSP00000424362:D84Y;ENSP00000424093:D84Y	ENSP00000348897:D84Y	D	-	1	0	GABRA2	46029394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.472000	0.66768	2.678000	0.91216	0.650000	0.86243	GAT		0.308	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA4	2557	broad.mit.edu	37	4	46930528	46930528	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:46930528C>T	ENST00000264318.3	-	9	2361	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	460					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R460Q(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATATCCAGTTCGGATAGAAGT	0.453																																					p.R460Q	Ovarian(6;283 369 8234 12290 33402)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1379A	4						.						107.0	98.0	101.0					4																	46930528		2203	4300	6503	46625285	SO:0001583	missense	2557	exon9				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1379G>A	4.37:g.46930528C>T	ENSP00000264318:p.Arg460Gln		46625285	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	4.639	0.118878	0.08881	.	.	ENSG00000109158	ENST00000264318	T	0.80824	-1.42	5.82	-0.503	0.12000	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.167070	0.00834	N	0.001691	T	0.63780	0.2540	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49082	-0.8976	10	0.16896	T	0.51	.	4.4361	0.11550	0.3109:0.3851:0.0:0.3041	.	460	P48169	GBRA4_HUMAN	Q	460	ENSP00000264318:R460Q	ENSP00000264318:R460Q	R	-	2	0	GABRA4	46625285	0.008000	0.16893	0.003000	0.11579	0.004000	0.04260	0.805000	0.27112	-0.019000	0.14055	-0.355000	0.07637	CGA		0.453	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GABRA4	2557	broad.mit.edu	37	4	46994881	46994881	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:46994881C>T	ENST00000264318.3	-	2	1151	c.169G>A	c.(169-171)Gat>Aat	p.D57N	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	57					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D57N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCATAACCATCGAGCAAACTG	0.473																																					p.D57N	Ovarian(6;283 369 8234 12290 33402)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169A	4						.						147.0	134.0	139.0					4																	46994881		2203	4300	6503	46689638	SO:0001583	missense	2557	exon2				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.169G>A	4.37:g.46994881C>T	ENSP00000264318:p.Asp57Asn		46689638	NM_000809	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838910	0.51057	.	.	ENSG00000109158	ENST00000264318	T	0.79247	-1.25	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	L	0.58354	1.805	0.53688	D	0.999974	D	0.89917	1.0	D	0.76071	0.987	D	0.86510	0.1809	10	0.72032	D	0.01	.	14.7935	0.69860	0.0:1.0:0.0:0.0	.	57	P48169	GBRA4_HUMAN	N	57	ENSP00000264318:D57N	ENSP00000264318:D57N	D	-	1	0	GABRA4	46689638	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	6.803000	0.75180	2.561000	0.86390	0.460000	0.39030	GAT		0.473	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
GABRB1	2560	broad.mit.edu	37	4	47163406	47163406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47163406G>T	ENST00000295454.3	+	4	673	c.381G>T	c.(379-381)aaG>aaT	p.K127N	GABRB1_ENST00000538619.1_Missense_Mutation_p.K57N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	127					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.K127N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAATGACAAGAAATCATTTG	0.438																																					p.K127N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	4						.						164.0	157.0	159.0					4																	47163406		2203	4300	6503	46858163	SO:0001583	missense	2560	exon4				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.381G>T	4.37:g.47163406G>T	ENSP00000295454:p.Lys127Asn		46858163	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453531	0.84209	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.79653	-1.29;-1.29;-1.29	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.073210	0.53938	D	0.000054	D	0.89770	0.6811	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.945;0.997	D	0.90706	0.4624	10	0.87932	D	0	-16.9901	10.9925	0.47557	0.0848:0.0:0.9152:0.0	.	57;127	F5GXV5;P18505	.;GBRB1_HUMAN	N	94;127;57	ENSP00000426753:K94N;ENSP00000295454:K127N;ENSP00000440330:K57N	ENSP00000295454:K127N	K	+	3	2	GABRB1	46858163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.624000	0.67764	2.611000	0.88343	0.650000	0.86243	AAG		0.438	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
COMMD8	54951	broad.mit.edu	37	4	47458742	47458742	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47458742A>C	ENST00000381571.4	-	3	294	c.227T>G	c.(226-228)tTt>tGt	p.F76C		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	76								p.F76C(1)		large_intestine(2)|lung(5)|prostate(1)	8						CAACTGCTGAAATATCTATAA	0.323																																					p.F76C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227G	4						.						71.0	75.0	74.0					4																	47458742		2203	4300	6503	47153499	SO:0001583	missense	54951	exon3			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.227T>G	4.37:g.47458742A>C	ENSP00000370984:p.Phe76Cys		47153499	NM_017845	Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416854	0.42918	.	.	ENSG00000169019	ENST00000381571	T	0.09163	3.01	5.72	-1.92	0.07618	.	1.382530	0.03825	N	0.268236	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.29835	0.258	B	0.34452	0.183	T	0.44019	-0.9355	10	0.46703	T	0.11	-24.8776	11.2736	0.49153	0.6722:0.0:0.3278:0.0	.	76	Q9NX08	COMD8_HUMAN	C	76	ENSP00000370984:F76C	ENSP00000370984:F76C	F	-	2	0	COMMD8	47153499	0.687000	0.27671	0.409000	0.26459	0.593000	0.36681	0.299000	0.19138	-0.224000	0.09928	0.454000	0.30748	TTT		0.323	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	
ATP10D	57205	broad.mit.edu	37	4	47560085	47560085	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47560085T>G	ENST00000273859.3	+	12	2498	c.2229T>G	c.(2227-2229)acT>acG	p.T743T	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	743					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T743T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACCAATGCACTTTACGGTCTC	0.537																																					p.T743T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2229G	4						.						115.0	96.0	102.0					4																	47560085		2203	4300	6503	47254842	SO:0001819	synonymous_variant	57205	exon12			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2229T>G	4.37:g.47560085T>G			47254842	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	CCDS3476.1																																																																																				0.537	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
CORIN	10699	broad.mit.edu	37	4	47682221	47682221	+	Missense_Mutation	SNP	C	C	T	rs149671375	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47682221C>T	ENST00000273857.4	-	8	1068	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	CORIN_ENST00000505909.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.A290T|CORIN_ENST00000508498.1_Missense_Mutation_p.A218T|CORIN_ENST00000504584.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	357	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.A357T(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTCCATGGCGATGCAGCGC	0.517																																					p.A357T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	4						.						133.0	100.0	111.0					4																	47682221		2203	4300	6503	47376978	SO:0001583	missense	10699	exon8			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1069G>A	4.37:g.47682221C>T	ENSP00000273857:p.Ala357Thr		47376978	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	6.307	0.424828	0.11987	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.95690	-3.78;-3.78;-3.78	5.93	-6.28	0.02020	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.407353	0.26489	N	0.024096	D	0.84329	0.5448	N	0.12422	0.21	0.09310	N	0.999999	B;B	0.18013	0.025;0.002	B;B	0.12156	0.007;0.001	T	0.74118	-0.3768	10	0.29301	T	0.29	.	6.1881	0.20508	0.3661:0.1615:0.0:0.4724	.	290;357	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	T	357;218;290	ENSP00000273857:A357T;ENSP00000425597:A218T;ENSP00000424212:A290T	ENSP00000273857:A357T	A	-	1	0	CORIN	47376978	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-3.107000	0.00601	-1.073000	0.03137	-0.998000	0.02512	GCC		0.517	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
CNGA1	1259	broad.mit.edu	37	4	47939215	47939215	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47939215C>A	ENST00000514170.1	-	11	1615	c.1296G>T	c.(1294-1296)aaG>aaT	p.K432N	CNGA1_ENST00000420489.2_Missense_Mutation_p.K432N|CNGA1_ENST00000358519.4_Missense_Mutation_p.K432N|CNGA1_ENST00000544810.1_Missense_Mutation_p.K432N|CNGA1_ENST00000402813.3_Missense_Mutation_p.K501N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	432					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.K432N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TAATAACCCTCTTTTCCATAT	0.343																																					p.K432N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1296T	4						.						125.0	121.0	123.0					4																	47939215		1865	4098	5963	47633972	SO:0001583	missense	1259	exon11			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1296G>T	4.37:g.47939215C>A	ENSP00000426862:p.Lys432Asn		47633972	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	2.678	-0.276063	0.05679	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	5.22	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.047113	0.85682	D	0.000000	D	0.86531	0.5955	N	0.05280	-0.08	0.39855	D	0.973291	B;B	0.18013	0.025;0.025	B;B	0.09377	0.004;0.004	T	0.78558	-0.2158	10	0.09338	T	0.73	.	4.6045	0.12371	0.0:0.6076:0.1994:0.193	.	432;432	Q4W5E3;P29973	.;CNGA1_HUMAN	N	501;432;432;432;432	ENSP00000384264:K501N;ENSP00000426862:K432N;ENSP00000443401:K432N;ENSP00000351320:K432N;ENSP00000389881:K432N	ENSP00000351320:K432N	K	-	3	2	CNGA1	47633972	1.000000	0.71417	0.999000	0.59377	0.486000	0.33341	1.423000	0.34837	1.171000	0.42768	-0.479000	0.04858	AAG		0.343	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
CNGA1	1259	broad.mit.edu	37	4	47953446	47953446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:47953446C>A	ENST00000514170.1	-	5	479	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	CNGA1_ENST00000420489.2_Nonsense_Mutation_p.E54*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.E54*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.E54*|CNGA1_ENST00000402813.3_Nonsense_Mutation_p.E123*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	54					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.E54*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTCTGATTCTTCAGATGTA	0.458																																					p.E54X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G160T	4						.						113.0	104.0	106.0					4																	47953446		1917	4132	6049	47648203	SO:0001587	stop_gained	1259	exon5			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.160G>T	4.37:g.47953446C>A	ENSP00000426862:p.Glu54*		47648203	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Nonsense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300117	0.40694	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722;ENST00000514520;ENST00000513178	.	.	.	4.98	4.98	0.66077	.	1.451810	0.04163	N	0.323361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	13.9287	0.63981	0.0:1.0:0.0:0.0	.	.	.	.	X	123;54;54;54;54;54;54;54	.	ENSP00000351320:E54X	E	-	1	0	CNGA1	47648203	1.000000	0.71417	0.999000	0.59377	0.015000	0.08874	1.926000	0.40084	2.741000	0.93983	0.561000	0.74099	GAA		0.458	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
TXK	7294	broad.mit.edu	37	4	48112578	48112578	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48112578T>G	ENST00000264316.4	-	5	508	c.423A>C	c.(421-423)aaA>aaC	p.K141N	TXK_ENST00000510457.1_5'UTR|RNU6-868P_ENST00000517241.1_RNA	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	141	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)	p.K141N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AATTAGTTATTTTGTTTTCAG	0.323																																					p.K141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A423C	4						.						114.0	111.0	112.0					4																	48112578		2202	4298	6500	47807335	SO:0001583	missense	7294	exon5			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.423A>C	4.37:g.48112578T>G	ENSP00000264316:p.Lys141Asn		47807335	NM_003328	Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223540	0.39300	.	.	ENSG00000074966	ENST00000264316	T	0.75050	-0.9	5.04	1.33	0.21861	Src homology-3 domain (2);	0.250151	0.27821	N	0.017701	T	0.58090	0.2098	N	0.16862	0.45	0.26922	N	0.966669	B	0.30584	0.286	B	0.37780	0.258	T	0.54536	-0.8279	10	0.72032	D	0.01	.	5.8747	0.18822	0.0:0.3372:0.0:0.6628	.	141	P42681	TXK_HUMAN	N	141	ENSP00000264316:K141N	ENSP00000264316:K141N	K	-	3	2	TXK	47807335	0.005000	0.15991	0.466000	0.27168	0.933000	0.57130	-0.304000	0.08199	0.417000	0.25871	-0.334000	0.08254	AAA		0.323	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328	
ZAR1	326340	broad.mit.edu	37	4	48494993	48494993	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48494993T>G	ENST00000327939.4	+	3	1135	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	365					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)		p.S365S(1)		endometrium(1)|large_intestine(4)	5						GTCAGAAGTCTTATAACCCTT	0.403																																					p.S365S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1095G	4						.						126.0	118.0	121.0					4																	48494993		2203	4300	6503	48189750	SO:0001819	synonymous_variant	326340	exon3			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1095T>G	4.37:g.48494993T>G			48189750	NM_175619		Silent	SNP	ENST00000327939.4	37	CCDS3483.1																																																																																				0.403	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
FRYL	285527	broad.mit.edu	37	4	48502084	48502084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48502084C>A	ENST00000503238.1	-	60	8745	c.8746G>T	c.(8746-8748)Gaa>Taa	p.E2916*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.E2916*|FRYL_ENST00000264319.7_Nonsense_Mutation_p.E306*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E2916*|FRYL_ENST00000507873.2_Nonsense_Mutation_p.E306*			O94915	FRYL_HUMAN	FRY-like	2916					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.E2916*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATATAAATTCTTTATTTTTC	0.343																																					p.E2916X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8746T	4						.						69.0	67.0	68.0					4																	48502084		1812	4065	5877	48196841	SO:0001587	stop_gained	285527	exon63			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8746G>T	4.37:g.48502084C>A	ENSP00000426064:p.Glu2916*		48196841	NM_015030	O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	53	20.765137	0.99934	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.95	5.95	0.96441	.	0.159210	0.41001	U	0.000973	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.3719	0.98893	0.0:1.0:0.0:0.0	.	.	.	.	X	2916;2916;2916;306;306	.	ENSP00000264319:E306X	E	-	1	0	FRYL	48196841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.826000	0.97356	0.491000	0.48974	GAA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48512886	48512886	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48512886G>A	ENST00000503238.1	-	55	8260	c.8261C>T	c.(8260-8262)tCa>tTa	p.S2754L	FRYL_ENST00000537810.1_Missense_Mutation_p.S2754L|FRYL_ENST00000264319.7_Missense_Mutation_p.S150L|FRYL_ENST00000358350.4_Missense_Mutation_p.S2754L|FRYL_ENST00000507873.2_Missense_Mutation_p.S150L			O94915	FRYL_HUMAN	FRY-like	2754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S2754L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGCATTCTGAACACAGCAT	0.373																																					p.S2754L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8261T	4						.						124.0	116.0	118.0					4																	48512886		1887	4108	5995	48207643	SO:0001583	missense	285527	exon58			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8261C>T	4.37:g.48512886G>A	ENSP00000426064:p.Ser2754Leu		48207643	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216577	0.58452	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23552	1.9;1.9;1.9	6.02	5.18	0.71444	.	0.095855	0.44097	U	0.000483	T	0.50939	0.1645	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.53788	-0.8389	10	0.56958	D	0.05	.	15.4711	0.75441	0.0663:0.0:0.9337:0.0	.	2754;2754;150	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	L	2754;2754;2754;150;150	ENSP00000426064:S2754L;ENSP00000351113:S2754L;ENSP00000441114:S2754L	ENSP00000264319:S150L	S	-	2	0	FRYL	48207643	1.000000	0.71417	0.999000	0.59377	0.013000	0.08279	7.551000	0.82182	1.550000	0.49438	-0.157000	0.13467	TCA		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48530028	48530028	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48530028G>T	ENST00000503238.1	-	49	7099	c.7100C>A	c.(7099-7101)tCt>tAt	p.S2367Y	FRYL_ENST00000537810.1_Missense_Mutation_p.S2367Y|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.S2367Y|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.S2367Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACCACAGAGAGAAAGCACATT	0.353																																					p.S2367Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7100A	4						.						120.0	106.0	111.0					4																	48530028		1838	4086	5924	48224785	SO:0001583	missense	285527	exon52			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7100C>A	4.37:g.48530028G>T	ENSP00000426064:p.Ser2367Tyr		48224785	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922580|4.922580	0.92319|0.92319	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.26810	.|1.71;1.71;1.71	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.109281	.|0.64402	.|D	.|0.000005	T|T	0.47930|0.47930	0.1472|0.1472	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.76494	.|0.481;0.997;0.999	.|B;D;D	.|0.70935	.|0.305;0.971;0.968	T|T	0.10636|0.10636	-1.0621|-1.0621	5|10	.|0.22706	.|T	.|0.39	.|.	19.9983|19.9983	0.97395|0.97395	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1197;2367;2367	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	L|Y	1236|2367	.|ENSP00000426064:S2367Y;ENSP00000351113:S2367Y;ENSP00000441114:S2367Y	.|ENSP00000351113:S2367Y	F|S	-|-	3|2	2|0	FRYL|FRYL	48224785|48224785	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.993000|0.993000	0.82548|0.82548	7.932000|7.932000	0.87634|0.87634	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48559129	48559129	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48559129C>T	ENST00000503238.1	-	32	4131	c.4132G>A	c.(4132-4134)Gat>Aat	p.D1378N	FRYL_ENST00000537810.1_Missense_Mutation_p.D1378N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.D1378N|FRYL_ENST00000358350.4_Missense_Mutation_p.D1378N|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.D1378N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCCAGTTCATCGCCATACTAG	0.383																																					p.D1378N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4132A	4						.						71.0	65.0	67.0					4																	48559129		1951	4145	6096	48253886	SO:0001583	missense	285527	exon35			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4132G>A	4.37:g.48559129C>T	ENSP00000426064:p.Asp1378Asn		48253886	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.731600|4.731600	0.89390|0.89390	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.52057|.	1.63;1.63;1.63;0.68|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73187|0.73187	0.3555|0.3555	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.999;0.861;1.0;1.0|.	P;P;D;D|.	0.97110|.	0.9;0.649;1.0;0.985|.	T|T	0.67534|0.67534	-0.5646|-0.5646	10|5	0.42905|.	T|.	0.14|.	.|.	20.5666|20.5666	0.99351|0.99351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1378;209;1378;1378|.	F2Z2S2;Q6ZR29;O94915;F5GX82|.	.;.;FRYL_HUMAN;.|.	N|Q	1378|248	ENSP00000426064:D1378N;ENSP00000351113:D1378N;ENSP00000441114:D1378N;ENSP00000421584:D1378N|.	ENSP00000351113:D1378N|.	D|R	-|-	1|2	0|0	FRYL|FRYL	48253886|48253886	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.326000|0.326000	0.28443|0.28443	7.818000|7.818000	0.86416|0.86416	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.383	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48597671	48597671	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48597671C>T	ENST00000503238.1	-	12	1183	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	FRYL_ENST00000537810.1_Missense_Mutation_p.R395Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.R101Q|FRYL_ENST00000507711.1_Missense_Mutation_p.R395Q|FRYL_ENST00000358350.4_Missense_Mutation_p.R395Q			O94915	FRYL_HUMAN	FRY-like	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R395Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AACCACACTTCGTGAGCCTTT	0.378																																					p.R395Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1184A	4						.						90.0	80.0	83.0					4																	48597671		1866	4099	5965	48292428	SO:0001583	missense	285527	exon15			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1184G>A	4.37:g.48597671C>T	ENSP00000426064:p.Arg395Gln		48292428	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	37	6.164329	0.97338	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.07	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	D	0.83266	0.5217	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.968;0.99	T	0.82973	-0.0191	10	0.56958	D	0.05	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	395;395	F2Z2S2;O94915	.;FRYL_HUMAN	Q	395;395;395;395;101	ENSP00000426064:R395Q;ENSP00000351113:R395Q;ENSP00000441114:R395Q;ENSP00000421584:R395Q	ENSP00000351113:R395Q	R	-	2	0	FRYL	48292428	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.834000	0.97654	0.650000	0.86243	CGA		0.378	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
FRYL	285527	broad.mit.edu	37	4	48636338	48636338	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48636338C>A	ENST00000503238.1	-	1	89	c.90G>T	c.(88-90)aaG>aaT	p.K30N	FRYL_ENST00000537810.1_Missense_Mutation_p.K30N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000514783.1_5'Flank|FRYL_ENST00000507711.1_Missense_Mutation_p.K30N|FRYL_ENST00000358350.4_Missense_Mutation_p.K30N			O94915	FRYL_HUMAN	FRY-like	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.K30N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTCAATTTTCTTTTCAGCTT	0.353																																					p.K30N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G90T	4						.						116.0	107.0	110.0					4																	48636338		1855	4094	5949	48331095	SO:0001583	missense	285527	exon4			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.90G>T	4.37:g.48636338C>A	ENSP00000426064:p.Lys30Asn		48331095	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189330	0.57909	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.46451	1.87;1.87;1.87;0.87	5.0	4.14	0.48551	.	0.000000	0.64402	U	0.000001	T	0.43986	0.1272	N	0.22421	0.69	0.80722	D	1	P;P;B	0.51057	0.941;0.455;0.26	P;B;B	0.56960	0.81;0.137;0.054	T	0.33752	-0.9856	10	0.42905	T	0.14	.	14.268	0.66133	0.0:0.9239:0.0:0.0761	.	81;30;30	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	N	30;30;30;30;122	ENSP00000426064:K30N;ENSP00000351113:K30N;ENSP00000441114:K30N;ENSP00000421584:K30N	ENSP00000351113:K30N	K	-	3	2	FRYL	48331095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.711000	0.54868	2.475000	0.83589	0.650000	0.86243	AAG		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
OCIAD1	54940	broad.mit.edu	37	4	48853996	48853996	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:48853996G>T	ENST00000381473.3	+	7	965				OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000264312.7_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000513391.2_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Intron|OCIAD1_ENST00000396448.2_Missense_Mutation_p.R184I|OCIAD1-AS1_ENST00000513576.1_RNA	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1							endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.?(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GTCCAAGGTAGAAACTTCTCT	0.358																																					p.R184I												.	.	1	Unknown(1)	large_intestine(1)	c.G551T	4						.						116.0	111.0	113.0					4																	48853996		2203	4300	6503	48548753	SO:0001627	intron_variant	54940	exon7			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.547+4G>T	4.37:g.48853996G>T			48548753	NM_001079841	C9K030|G8JLN7|Q9BZE8	Intron	SNP	ENST00000381473.3	37	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507011	0.44558	.	.	ENSG00000109180	ENST00000396448	T	0.43688	0.94	5.0	3.14	0.36123	.	.	.	.	.	T	0.18800	0.0451	N	0.08118	0	0.80722	D	1	P	0.42518	0.782	B	0.37304	0.246	T	0.01448	-1.1352	8	.	.	.	.	7.4355	0.27154	0.0:0.2779:0.5565:0.1657	.	184	Q9NX40-2	.	I	184	ENSP00000379725:R184I	.	R	+	2	0	OCIAD1	48548753	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.024000	0.41049	2.474000	0.83562	0.467000	0.42956	AGA		0.358	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830	
CWH43	80157	broad.mit.edu	37	4	49052813	49052813	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:49052813G>T	ENST00000226432.4	+	15	2151	c.1968G>T	c.(1966-1968)caG>caT	p.Q656H	CWH43_ENST00000513409.1_Missense_Mutation_p.Q629H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	656					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.Q656H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGACAACCAGAAAGTGGTCA	0.408																																					p.Q656H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1968T	4						.						63.0	64.0	64.0					4																	49052813		2203	4300	6503	48747570	SO:0001583	missense	80157	exon15				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1968G>T	4.37:g.49052813G>T	ENSP00000226432:p.Gln656His		48747570	NM_025087	B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	4.361	0.066598	0.08388	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44482	1.51;0.92	5.13	3.38	0.38709	.	0.539313	0.17096	N	0.187170	T	0.25344	0.0616	N	0.24115	0.695	0.28477	N	0.91513	B	0.06786	0.001	B	0.04013	0.001	T	0.11641	-1.0579	9	.	.	.	.	7.7777	0.29048	0.0878:0.394:0.5182:0.0	.	656	Q9H720	PG2IP_HUMAN	H	656;629	ENSP00000226432:Q656H;ENSP00000422802:Q629H	.	Q	+	3	2	CWH43	48747570	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	0.558000	0.23469	1.498000	0.48600	0.655000	0.94253	CAG		0.408	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	
LRRC66	339977	broad.mit.edu	37	4	52862107	52862107	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:52862107C>T	ENST00000343457.3	-	4	1087	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	361						integral component of membrane (GO:0016021)		p.D361N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCCTGCACATCGCGGGTGCTT	0.592																																					p.D361N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1081A	4						.						34.0	35.0	35.0					4																	52862107		1944	4148	6092	52556864	SO:0001583	missense	339977	exon4			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1081G>A	4.37:g.52862107C>T	ENSP00000341944:p.Asp361Asn		52556864	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113938	0.56398	.	.	ENSG00000188993	ENST00000343457	T	0.48522	0.81	4.45	3.61	0.41365	.	0.148988	0.31370	N	0.007767	T	0.39091	0.1065	L	0.59436	1.845	0.09310	N	1	D	0.57899	0.981	B	0.37943	0.261	T	0.41395	-0.9511	10	0.66056	D	0.02	-6.6743	9.6003	0.39601	0.0:0.8991:0.0:0.1009	.	361	Q68CR7	LRC66_HUMAN	N	361	ENSP00000341944:D361N	ENSP00000341944:D361N	D	-	1	0	LRRC66	52556864	0.031000	0.19500	0.003000	0.11579	0.004000	0.04260	2.092000	0.41700	0.988000	0.38734	0.467000	0.42956	GAT		0.592	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
LRRC66	339977	broad.mit.edu	37	4	52883690	52883690	+	Missense_Mutation	SNP	A	A	C	rs200866017		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:52883690A>C	ENST00000343457.3	-	1	96	c.90T>G	c.(88-90)atT>atG	p.I30M		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	30						integral component of membrane (GO:0016021)		p.I30M(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATTGAATAAAATATTGCTTT	0.328																																					p.I30M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T90G	4						.						30.0	31.0	31.0					4																	52883690		1803	4067	5870	52578447	SO:0001583	missense	339977	exon1			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.90T>G	4.37:g.52883690A>C	ENSP00000341944:p.Ile30Met		52578447	NM_001024611		Missense_Mutation	SNP	ENST00000343457.3	37	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	A	9.226	1.034682	0.19590	.	.	ENSG00000188993	ENST00000343457	T	0.30182	1.54	4.7	3.48	0.39840	.	0.905025	0.09245	N	0.828734	T	0.19805	0.0476	L	0.29908	0.895	0.09310	N	1	P	0.34662	0.462	B	0.29077	0.098	T	0.22626	-1.0211	10	0.59425	D	0.04	-0.6258	4.1929	0.10430	0.6808:0.2111:0.1081:0.0	.	30	Q68CR7	LRC66_HUMAN	M	30	ENSP00000341944:I30M	ENSP00000341944:I30M	I	-	3	3	LRRC66	52578447	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.284000	0.18864	0.789000	0.33779	0.455000	0.32223	ATT		0.328	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611	
SGCB	6443	broad.mit.edu	37	4	52890147	52890147	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:52890147G>C	ENST00000381431.5	-	6	1155	c.933C>G	c.(931-933)gaC>gaG	p.D311E	SGCB_ENST00000535450.1_Missense_Mutation_p.D241E	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	311	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.D311E(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CACAGGGGTTGTCTGAGATTT	0.448																																					p.D311E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C933G	4						.						111.0	96.0	101.0					4																	52890147		2203	4300	6503	52584904	SO:0001583	missense	6443	exon6			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.933C>G	4.37:g.52890147G>C	ENSP00000370839:p.Asp311Glu		52584904	NM_000232	B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701385	0.15172	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.96168	-2.28;-3.93	5.54	5.54	0.83059	.	0.236507	0.49305	D	0.000160	D	0.90314	0.6970	L	0.37630	1.12	0.40538	D	0.980994	B;B	0.23316	0.083;0.083	B;B	0.22601	0.04;0.025	D	0.83903	0.0291	10	0.02654	T	1	-17.7472	12.2039	0.54340	0.078:0.0:0.922:0.0	.	241;311	B7Z635;Q16585	.;SGCB_HUMAN	E	311;241	ENSP00000370839:D311E;ENSP00000441199:D241E	ENSP00000370839:D311E	D	-	3	2	SGCB	52584904	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	3.994000	0.56994	2.751000	0.94390	0.591000	0.81541	GAC		0.448	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
SPATA18	132671	broad.mit.edu	37	4	52917876	52917876	+	Silent	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:52917876G>C	ENST00000295213.4	+	1	380	c.6G>C	c.(4-6)gcG>gcC	p.A2A	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Silent_p.A2A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	2					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.A2A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAGCGATGGCGGAAAACCTGA	0.562																																					p.A2A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6C	4						.						122.0	119.0	120.0					4																	52917876		2203	4300	6503	52612633	SO:0001819	synonymous_variant	132671	exon1			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.6G>C	4.37:g.52917876G>C			52612633	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	CCDS3489.1																																																																																				0.562	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
SPATA18	132671	broad.mit.edu	37	4	52938276	52938276	+	Missense_Mutation	SNP	G	G	A	rs144283037		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:52938276G>A	ENST00000295213.4	+	6	1086	c.712G>A	c.(712-714)Gag>Aag	p.E238K	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.E206K	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	238					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.E238K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAACCTGAAGGAGGAGATAGC	0.478																																					p.E238K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G712A	4						.						92.0	85.0	87.0					4																	52938276		2203	4300	6503	52633033	SO:0001583	missense	132671	exon6			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.712G>A	4.37:g.52938276G>A	ENSP00000295213:p.Glu238Lys		52633033	NM_145263	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369842	0.61624	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	D;T	0.87334	-2.24;1.65	4.97	4.97	0.65823	.	0.387284	0.32578	N	0.005901	D	0.82609	0.5074	L	0.43152	1.355	0.41171	D	0.986166	B;B;P	0.41848	0.275;0.403;0.763	B;B;B	0.36608	0.088;0.088;0.229	D	0.85767	0.1353	10	0.72032	D	0.01	-14.9761	15.7736	0.78190	0.0:0.0:1.0:0.0	.	206;238;238	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	K	238;206	ENSP00000295213:E238K;ENSP00000415309:E206K	ENSP00000295213:E238K	E	+	1	0	SPATA18	52633033	1.000000	0.71417	0.985000	0.45067	0.021000	0.10359	7.045000	0.76585	2.567000	0.86603	0.650000	0.86243	GAG		0.478	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
SCFD2	152579	broad.mit.edu	37	4	53751933	53751933	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:53751933G>A	ENST00000401642.3	-	8	2076	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	SCFD2_ENST00000388940.4_Missense_Mutation_p.S603L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	648					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.S648L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGCTTCAACGATGCCACAAG	0.547																																					p.S648L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1943T	4						.						117.0	107.0	110.0					4																	53751933		2203	4300	6503	53446690	SO:0001583	missense	152579	exon8			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1943C>T	4.37:g.53751933G>A	ENSP00000384182:p.Ser648Leu		53446690	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200298	0.38905	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80123	-1.34;-1.34	5.07	5.07	0.68467	.	0.317958	0.29034	N	0.013358	T	0.76666	0.4019	L	0.50333	1.59	0.09310	N	1	P;P	0.40144	0.655;0.704	B;B	0.35859	0.135;0.212	T	0.74203	-0.3741	10	0.72032	D	0.01	.	17.4297	0.87536	0.0:0.0:1.0:0.0	.	603;648	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	L	648;603	ENSP00000384182:S648L;ENSP00000373592:S603L	ENSP00000373592:S603L	S	-	2	0	SCFD2	53446690	0.859000	0.29813	0.018000	0.16275	0.022000	0.10575	6.537000	0.73847	2.373000	0.80994	0.561000	0.74099	TCG		0.547	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
SCFD2	152579	broad.mit.edu	37	4	53786966	53786966	+	Missense_Mutation	SNP	G	G	A	rs149566585		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:53786966G>A	ENST00000401642.3	-	6	1766	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	SCFD2_ENST00000388940.4_Missense_Mutation_p.R545W	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	545					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)			p.R545W(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCAATATCCCGAAGTGAAGTA	0.388																																					p.R545W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1633T	4						.	G	TRP/ARG	0,4406		0,0,2203	79.0	82.0	81.0		1633	2.2	0.5	4	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SCFD2	NM_152540.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	545/685	53786966	2,13004	2203	4300	6503	53481723	SO:0001583	missense	152579	exon6			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.1633C>T	4.37:g.53786966G>A	ENSP00000384182:p.Arg545Trp		53481723	NM_152540	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	ENST00000401642.3	37	CCDS33984.1	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129831	0.21041	0.0	2.33E-4	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.80214	-1.17;-1.35	4.96	2.23	0.28157	.	0.211954	0.39475	N	0.001355	T	0.72590	0.3479	L	0.56769	1.78	0.32982	D	0.523853	B;B	0.11235	0.003;0.004	B;B	0.10450	0.003;0.005	T	0.69347	-0.5169	10	0.54805	T	0.06	.	5.0223	0.14367	0.1877:0.1727:0.6396:0.0	.	545;545	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	W	545	ENSP00000384182:R545W;ENSP00000373592:R545W	ENSP00000373592:R545W	R	-	1	2	SCFD2	53481723	0.998000	0.40836	0.545000	0.28153	0.349000	0.29174	0.905000	0.28504	0.354000	0.24105	0.561000	0.74099	CGG		0.388	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540	
FIP1L1	81608	broad.mit.edu	37	4	54319224	54319224	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:54319224C>T	ENST00000337488.6	+	16	1617	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R469W|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R401W	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	475	Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R475W(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaccgtgatcgggacagaga	0.507			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.R475W			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1423T	4						.						79.0	70.0	73.0					4																	54319224		2203	4300	6503	54013981	SO:0001583	missense	81608	exon16			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1423C>T	4.37:g.54319224C>T	ENSP00000336752:p.Arg475Trp		54013981	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309777	0.81247	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.08282	3.11;3.11;3.11	5.18	4.33	0.51752	.	0.000000	0.64402	D	0.000012	T	0.26521	0.0648	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.71414	0.953;0.973;0.953;0.898	T	0.01920	-1.1247	10	0.87932	D	0	-9.5475	14.9741	0.71257	0.1442:0.8558:0.0:0.0	.	469;469;401;475	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	W	475;469;401;132	ENSP00000336752:R475W;ENSP00000351383:R469W;ENSP00000302993:R401W	ENSP00000302993:R401W	R	+	1	2	FIP1L1	54013981	0.998000	0.40836	0.825000	0.32803	0.950000	0.60333	3.341000	0.52151	1.267000	0.44247	0.655000	0.94253	CGG		0.507	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
LNX1	84708	broad.mit.edu	37	4	54344807	54344807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:54344807C>A	ENST00000263925.7	-	8	1902	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Nonsense_Mutation_p.E434*	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	530	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E434*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAATCCCATTCTCTATGTGAT	0.443																																					p.E530X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1588T	4						.						184.0	178.0	180.0					4																	54344807		2203	4300	6503	54039564	SO:0001587	stop_gained	84708	exon8			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1588G>T	4.37:g.54344807C>A	ENSP00000263925:p.Glu530*		54039564	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Nonsense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518369	0.96416	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	.	.	.	4.98	4.14	0.48551	.	0.047493	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.6393	0.62241	0.0:0.9254:0.0:0.0746	.	.	.	.	X	434;368;530	.	ENSP00000263925:E530X	E	-	1	0	LNX1	54039564	1.000000	0.71417	0.822000	0.32727	0.167000	0.22549	6.989000	0.76219	1.458000	0.47871	0.655000	0.94253	GAA		0.443	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
LNX1	84708	broad.mit.edu	37	4	54364863	54364863	+	Missense_Mutation	SNP	C	C	T	rs542109970		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:54364863C>T	ENST00000263925.7	-	5	1237	c.923G>A	c.(922-924)cGt>cAt	p.R308H	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.R212H|LNX1-AS1_ENST00000510785.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	308	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R212H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CACCCCATCACGATAAATGTG	0.502																																					p.R308H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	4						.						87.0	76.0	80.0					4																	54364863		2203	4300	6503	54059620	SO:0001583	missense	84708	exon5			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.923G>A	4.37:g.54364863C>T	ENSP00000263925:p.Arg308His		54059620	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448876	0.43531	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.28069	1.63;1.63	4.49	3.64	0.41730	PDZ/DHR/GLGF (4);	0.303860	0.34531	N	0.003888	T	0.25975	0.0633	L	0.52126	1.63	0.49051	D	0.999743	P;P	0.45396	0.633;0.857	B;B	0.39217	0.184;0.294	T	0.04991	-1.0913	10	0.56958	D	0.05	.	9.2944	0.37806	0.0:0.8345:0.0:0.1655	.	308;212	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	H	212;146;308	ENSP00000302879:R212H;ENSP00000263925:R308H	ENSP00000263925:R308H	R	-	2	0	LNX1	54059620	1.000000	0.71417	0.926000	0.36857	0.324000	0.28378	4.390000	0.59646	1.251000	0.43983	-0.258000	0.10820	CGT		0.502	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
LNX1	84708	broad.mit.edu	37	4	54364945	54364945	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:54364945C>A	ENST00000263925.7	-	5	1155	c.841G>T	c.(841-843)Gat>Tat	p.D281Y	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.D185Y|LNX1-AS1_ENST00000510785.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	281	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D185Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCACTGGGATCTACTCGATTG	0.453																																					p.D281Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841T	4						.						106.0	91.0	96.0					4																	54364945		2203	4300	6503	54059702	SO:0001583	missense	84708	exon5			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.841G>T	4.37:g.54364945C>A	ENSP00000263925:p.Asp281Tyr		54059702	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542819	0.45280	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08896	3.04;4.47	4.49	3.61	0.41365	PDZ/DHR/GLGF (3);	0.105254	0.64402	D	0.000007	T	0.33731	0.0873	M	0.88640	2.97	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.981	T	0.41645	-0.9497	10	0.66056	D	0.02	.	14.4954	0.67683	0.0:0.852:0.148:0.0	.	281;185	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	Y	185;119;281	ENSP00000302879:D185Y;ENSP00000263925:D281Y	ENSP00000263925:D281Y	D	-	1	0	LNX1	54059702	0.687000	0.27671	0.910000	0.35882	0.241000	0.25554	1.342000	0.33919	1.189000	0.43028	0.561000	0.74099	GAT		0.453	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
LNX1	84708	broad.mit.edu	37	4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T	rs201126543		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:54374161C>T	ENST00000263925.7	-	3	928	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000514364.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.R109Q|LNX1-AS1_ENST00000510785.1_RNA|LNX1-AS1_ENST00000511989.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552																																					p.R205Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	4						.						30.0	27.0	28.0					4																	54374161		2201	4299	6500	54068918	SO:0001583	missense	84708	exon3			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.614G>A	4.37:g.54374161C>T	ENSP00000263925:p.Arg205Gln		54068918	NM_001126328	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100746	0.37048	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.08008	3.14;4.6	5.31	2.61	0.31194	.	0.373061	0.30329	N	0.009870	T	0.03827	0.0108	L	0.32530	0.975	0.34287	D	0.682783	P;B	0.34934	0.476;0.09	B;B	0.17433	0.018;0.01	T	0.42649	-0.9439	10	0.10377	T	0.69	.	4.0475	0.09779	0.1328:0.5959:0.1284:0.1429	.	205;109	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	Q	109;43;205	ENSP00000302879:R109Q;ENSP00000263925:R205Q	ENSP00000263925:R205Q	R	-	2	0	LNX1	54068918	0.054000	0.20591	0.718000	0.30602	0.437000	0.31866	0.114000	0.15520	0.231000	0.21079	0.555000	0.69702	CGA		0.552	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
PDGFRA	5156	broad.mit.edu	37	4	55133561	55133561	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55133561G>A	ENST00000257290.5	+	6	1196	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	289	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E289K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGAGATTACGAATGTGCTGC	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.E289K	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	4						.						88.0	90.0	89.0					4																	55133561		2203	4300	6503	54828318	SO:0001583	missense	5156	exon6	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.865G>A	4.37:g.55133561G>A	ENSP00000257290:p.Glu289Lys		54828318	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635536	0.67130	.	.	ENSG00000134853	ENST00000257290	T	0.67345	-0.26	5.67	3.88	0.44766	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33005	U	0.005396	T	0.61388	0.2343	M	0.65975	2.015	0.80722	D	1	P;P	0.49862	0.884;0.929	B;B	0.41271	0.23;0.352	T	0.62426	-0.6857	10	0.07175	T	0.84	.	15.5903	0.76523	0.0:0.3916:0.6084:0.0	.	289;289	P16234-3;P16234	.;PGFRA_HUMAN	K	289	ENSP00000257290:E289K	ENSP00000257290:E289K	E	+	1	0	PDGFRA	54828318	0.952000	0.32445	0.888000	0.34837	0.988000	0.76386	1.551000	0.36233	0.712000	0.32039	0.313000	0.20887	GAA		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55143646	55143646	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55143646G>T	ENST00000257290.5	+	13	2209	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	FIP1L1_ENST00000507166.1_Silent_p.V386V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	626	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V626V(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AAGTTGCAGTGAAGATGCTAA	0.483			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.V626V	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1878T	4						.						121.0	122.0	121.0					4																	55143646		2203	4300	6503	54838403	SO:0001819	synonymous_variant	5156	exon13	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1878G>T	4.37:g.55143646G>T			54838403	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.483	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55146636	55146636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55146636G>T	ENST00000257290.5	+	16	2641	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K530N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K770N(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CATATAAGAAGAAATCTATGT	0.388			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.K770N	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2310T	4						.						55.0	52.0	53.0					4																	55146636		2203	4300	6503	54841393	SO:0001583	missense	5156	exon16	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2310G>T	4.37:g.55146636G>T	ENSP00000257290:p.Lys770Asn		54841393	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789458	0.31685	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.80033	-1.33;-1.33	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33553	U	0.004800	T	0.68805	0.3041	N	0.21508	0.67	0.80722	D	1	P	0.37781	0.608	B	0.38378	0.272	T	0.65919	-0.6051	10	0.13470	T	0.59	.	14.2072	0.65741	0.0711:0.0:0.9289:0.0	.	770	P16234	PGFRA_HUMAN	N	530;770	ENSP00000423325:K530N;ENSP00000257290:K770N	ENSP00000423325:K530N	K	+	3	2	FIP1L1;PDGFRA	54841393	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.995000	0.63908	2.735000	0.93741	0.561000	0.74099	AAG		0.388	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55155014	55155014	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55155014A>C	ENST00000257290.5	+	20	3054	c.2723A>C	c.(2722-2724)aAg>aCg	p.K908T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K668T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	908	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K908T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTCTACAATAAGATCAAGAGT	0.522			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.K908T	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2723C	4						.						93.0	87.0	89.0					4																	55155014		2203	4300	6503	54849771	SO:0001583	missense	5156	exon20	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2723A>C	4.37:g.55155014A>C	ENSP00000257290:p.Lys908Thr		54849771	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872244	0.91587	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88818	-2.43;-2.43	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	U	0.005008	D	0.91626	0.7354	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91774	0.5430	10	0.49607	T	0.09	.	16.3021	0.82825	1.0:0.0:0.0:0.0	.	908	P16234	PGFRA_HUMAN	T	668;908	ENSP00000423325:K668T;ENSP00000257290:K908T	ENSP00000423325:K668T	K	+	2	0	FIP1L1;PDGFRA	54849771	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.211000	0.58507	2.326000	0.78906	0.533000	0.62120	AAG		0.522	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	broad.mit.edu	37	4	55561832	55561832	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55561832G>A	ENST00000288135.5	+	2	319	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	74	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T74T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATGAAACGAATGAGAATA	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.T74T		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G222A	4						.						108.0	100.0	103.0					4																	55561832		2203	4300	6503	55256589	SO:0001819	synonymous_variant	3815	exon2	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.222G>A	4.37:g.55561832G>A			55256589	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	broad.mit.edu	37	4	55569904	55569904	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55569904G>T	ENST00000288135.5	+	5	868	c.771G>T	c.(769-771)gaG>gaT	p.E257D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	257	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E257D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACTACAGGAGAAATATAATA	0.338		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.E257D		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G771T	4						.						68.0	69.0	69.0					4																	55569904		2203	4300	6503	55264661	SO:0001583	missense	3815	exon5	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.771G>T	4.37:g.55569904G>T	ENSP00000288135:p.Glu257Asp		55264661	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201114	0.01581	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.83591	-1.74;-1.74	5.77	-1.84	0.07809	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.776670	0.02950	N	0.141616	T	0.64000	0.2559	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.0;0.014	T	0.53774	-0.8391	10	0.12430	T	0.62	.	5.5516	0.17093	0.4517:0.0:0.3717:0.1766	.	257;257	P10721-2;P10721	.;KIT_HUMAN	D	257	ENSP00000288135:E257D;ENSP00000390987:E257D	ENSP00000288135:E257D	E	+	3	2	KIT	55264661	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.230000	0.09083	-0.084000	0.12595	-0.312000	0.09012	GAG		0.338	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	broad.mit.edu	37	4	55602678	55602678	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55602678G>T	ENST00000288135.5	+	18	2596	c.2499G>T	c.(2497-2499)gtG>gtT	p.V833V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V833V(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACTACCTGTGAAGTGGATGG	0.393		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.V833V		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2499T	4						.						122.0	119.0	120.0					4																	55602678		2203	4300	6503	55297435	SO:0001819	synonymous_variant	3815	exon18	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2499G>T	4.37:g.55602678G>T			55297435	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	broad.mit.edu	37	4	55604629	55604629	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55604629G>A	ENST00000288135.5	+	21	2934	c.2837G>A	c.(2836-2838)cGa>cAa	p.R946Q		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	946					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R946Q(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCAACCGACAGAAGCCC	0.512		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.R946Q		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2837A	4						.						134.0	131.0	132.0					4																	55604629		2203	4300	6503	55299386	SO:0001583	missense	3815	exon21	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2837G>A	4.37:g.55604629G>A	ENSP00000288135:p.Arg946Gln		55299386	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457865	0.04508	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76839	-1.05;-1.05	5.17	-7.2	0.01495	.	1.764130	0.03452	N	0.210805	T	0.53012	0.1770	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44922	-0.9296	10	0.24483	T	0.36	.	11.281	0.49195	0.6009:0.2401:0.1591:0.0	.	942;946	P10721-2;P10721	.;KIT_HUMAN	Q	946;942	ENSP00000288135:R946Q;ENSP00000390987:R942Q	ENSP00000288135:R946Q	R	+	2	0	KIT	55299386	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.129000	0.10515	-1.176000	0.02747	-1.157000	0.01802	CGA		0.512	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KDR	3791	broad.mit.edu	37	4	55955601	55955601	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:55955601A>C	ENST00000263923.4	-	25	3639	c.3344T>G	c.(3343-3345)tTt>tGt	p.F1115C	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F1115C(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGCCTACAAAATTCTTCATC	0.378			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.F1115C			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3344G	4						.						81.0	79.0	79.0					4																	55955601		2203	4300	6503	55650358	SO:0001583	missense	3791	exon25			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3344T>G	4.37:g.55955601A>C	ENSP00000263923:p.Phe1115Cys		55650358	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453779	0.63290	.	.	ENSG00000128052	ENST00000263923	D	0.83419	-1.72	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052843	0.85682	D	0.000000	D	0.88793	0.6533	L	0.49640	1.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89898	0.4042	10	0.87932	D	0	.	15.7104	0.77623	1.0:0.0:0.0:0.0	.	1115	P35968	VGFR2_HUMAN	C	1115	ENSP00000263923:F1115C	ENSP00000263923:F1115C	F	-	2	0	KDR	55650358	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.339000	0.96797	2.109000	0.64355	0.383000	0.25322	TTT		0.378	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CLOCK	9575	broad.mit.edu	37	4	56304676	56304676	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:56304676T>C	ENST00000309964.4	-	21	2384	c.2134A>G	c.(2134-2136)Aaa>Gaa	p.K712E	CLOCK_ENST00000513440.1_Missense_Mutation_p.K712E|CLOCK_ENST00000381322.1_Missense_Mutation_p.K712E	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	712	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K712E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTCACTAATTTGGTCACAAGT	0.413																																					p.K712E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2134G	4						.						84.0	69.0	74.0					4																	56304676		2203	4300	6503	55999433	SO:0001583	missense	9575	exon22			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2134A>G	4.37:g.56304676T>C	ENSP00000308741:p.Lys712Glu		55999433	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	T	32	5.108206	0.94292	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04234	3.67;3.67;3.67	5.73	5.73	0.89815	.	0.086182	0.85682	D	0.000000	T	0.18676	0.0448	M	0.74881	2.28	0.80722	D	1	D	0.67145	0.996	P	0.60173	0.87	T	0.00263	-1.1866	9	.	.	.	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	712	O15516	CLOCK_HUMAN	E	712	ENSP00000308741:K712E;ENSP00000370723:K712E;ENSP00000426983:K712E	.	K	-	1	0	CLOCK	55999433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.477000	0.44152	AAA		0.413	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
CLOCK	9575	broad.mit.edu	37	4	56325326	56325326	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:56325326G>T	ENST00000309964.4	-	9	912	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	CLOCK_ENST00000513440.1_Missense_Mutation_p.S221Y|CLOCK_ENST00000381322.1_Missense_Mutation_p.S221Y	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	221					cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S221Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTGTTTAAAGATTTGAAATT	0.318																																					p.S221Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C662A	4						.						43.0	44.0	44.0					4																	56325326		2203	4297	6500	56020083	SO:0001583	missense	9575	exon10			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.662C>A	4.37:g.56325326G>T	ENSP00000308741:p.Ser221Tyr		56020083	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260793	0.39995	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04551	3.6;3.6;3.6	5.78	5.78	0.91487	.	0.048550	0.85682	D	0.000000	T	0.10423	0.0255	M	0.81802	2.56	0.58432	D	0.999999	B	0.14438	0.01	B	0.14023	0.01	T	0.05869	-1.0859	10	0.26408	T	0.33	.	16.4798	0.84155	0.0:0.1396:0.8604:0.0	.	221	O15516	CLOCK_HUMAN	Y	221	ENSP00000308741:S221Y;ENSP00000370723:S221Y;ENSP00000426983:S221Y	ENSP00000308741:S221Y	S	-	2	0	CLOCK	56020083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.939000	0.70179	2.738000	0.93877	0.591000	0.81541	TCT		0.318	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
EXOC1	55763	broad.mit.edu	37	4	56730461	56730461	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:56730461G>T	ENST00000381295.2	+	4	672	c.324G>T	c.(322-324)aaG>aaT	p.K108N	EXOC1_ENST00000346134.7_Missense_Mutation_p.K108N|EXOC1_ENST00000349598.6_Missense_Mutation_p.K108N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	108					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K108N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGCTGAAAAGAATGCATTTA	0.294																																					p.K108N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G324T	4						.						46.0	45.0	46.0					4																	56730461		2202	4300	6502	56425218	SO:0001583	missense	55763	exon4			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.324G>T	4.37:g.56730461G>T	ENSP00000370695:p.Lys108Asn		56425218	NM_001024924	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882957	0.72410	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.28	4.44	0.53790	.	0.044305	0.85682	D	0.000000	T	0.76543	0.4002	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.98	T	0.78663	-0.2116	9	0.59425	D	0.04	.	14.0695	0.64851	0.0737:0.0:0.9263:0.0	.	108;108	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	N	108	.	ENSP00000326514:K108N	K	+	3	2	EXOC1	56425218	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.603000	0.46266	1.341000	0.45600	0.557000	0.71058	AAG		0.294	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
CEP135	9662	broad.mit.edu	37	4	56820499	56820499	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:56820499G>T	ENST00000257287.4	+	4	546	c.422G>T	c.(421-423)aGa>aTa	p.R141I	CEP135_ENST00000422247.2_Missense_Mutation_p.R141I	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	141					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R141I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AAGAATGAAAGAATTCAACAA	0.338																																					p.R141I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422T	4						.						71.0	71.0	71.0					4																	56820499		2203	4299	6502	56515256	SO:0001583	missense	9662	exon4			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.422G>T	4.37:g.56820499G>T	ENSP00000257287:p.Arg141Ile		56515256	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978585	0.74360	.	.	ENSG00000174799	ENST00000422247;ENST00000257287	T	0.50548	0.74	5.54	1.82	0.25136	.	0.122766	0.53938	D	0.000044	T	0.51398	0.1672	L	0.58101	1.795	0.48762	D	0.999707	P;P	0.51147	0.942;0.883	P;P	0.53360	0.724;0.655	T	0.45833	-0.9234	10	0.52906	T	0.07	.	8.3362	0.32217	0.7006:0.0:0.2994:0.0	.	141;141	Q66GS9;Q66GS9-2	CP135_HUMAN;.	I	141	ENSP00000257287:R141I	ENSP00000257287:R141I	R	+	2	0	CEP135	56515256	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	3.884000	0.56175	0.089000	0.17243	-0.469000	0.05056	AGA		0.338	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
CEP135	9662	broad.mit.edu	37	4	56878140	56878140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:56878140G>T	ENST00000257287.4	+	21	2915	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	931					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E931*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTAGAAAAAGAAATTCAAGA	0.303																																					p.E931X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2791T	4						.						36.0	39.0	38.0					4																	56878140		2203	4299	6502	56572897	SO:0001587	stop_gained	9662	exon21			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2791G>T	4.37:g.56878140G>T	ENSP00000257287:p.Glu931*		56572897	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	42	9.441957	0.99172	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	.	.	.	X	931	.	ENSP00000257287:E931X	E	+	1	0	CEP135	56572897	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.814000	0.91968	2.840000	0.97914	0.655000	0.94253	GAA		0.303	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
KIAA1211	57482	broad.mit.edu	37	4	57173715	57173715	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57173715G>T	ENST00000504228.1	+	3	240	c.135G>T	c.(133-135)aaG>aaT	p.K45N	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K38N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K45N			Q6ZU35	K1211_HUMAN	KIAA1211	45								p.K45N(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGTTGGGCAAGAATATCAAGT	0.488																																					p.K45N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G135T	4						.						77.0	76.0	76.0					4																	57173715		2017	4181	6198	56868472	SO:0001583	missense	57482	exon5			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.135G>T	4.37:g.57173715G>T	ENSP00000423366:p.Lys45Asn		56868472	NM_020722	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719942	0.48728	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.14766	2.6;2.6;2.48	5.84	4.97	0.65823	.	.	.	.	.	T	0.20047	0.0482	M	0.65975	2.015	0.36345	D	0.859724	P;P	0.41188	0.741;0.741	B;B	0.43658	0.426;0.426	T	0.14200	-1.0481	9	0.62326	D	0.03	-43.7386	9.6356	0.39806	0.2231:0.0:0.7769:0.0	.	38;45	F5H1N7;Q6ZU35	.;K1211_HUMAN	N	45;45;38	ENSP00000264229:K45N;ENSP00000423366:K45N;ENSP00000444006:K38N	ENSP00000264229:K45N	K	+	3	2	KIAA1211	56868472	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	2.498000	0.45363	1.409000	0.46915	0.655000	0.94253	AAG		0.488	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722	
AASDH	132949	broad.mit.edu	37	4	57204669	57204669	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57204669C>T	ENST00000205214.6	-	15	3376	c.3196G>A	c.(3196-3198)Gaa>Aaa	p.E1066K	AASDH_ENST00000434343.2_Missense_Mutation_p.E581K|AASDH_ENST00000513376.1_Missense_Mutation_p.E966K|AASDH_ENST00000451613.1_3'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1066					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.E1066K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAGAAGACTTCTCCAGGAAGT	0.403																																					p.E1066K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3196A	4						.						77.0	73.0	74.0					4																	57204669		2203	4300	6503	56899426	SO:0001583	missense	132949	exon15			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3196G>A	4.37:g.57204669C>T	ENSP00000205214:p.Glu1066Lys		56899426	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100570	0.76983	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.56611	0.45;0.45;0.45	6.04	5.15	0.70609	Quinonprotein alcohol dehydrogenase-like (2);	0.091610	0.85682	D	0.000000	T	0.67664	0.2917	M	0.78916	2.43	0.80722	D	1	D	0.58620	0.983	P	0.55785	0.784	T	0.71520	-0.4568	10	0.72032	D	0.01	-24.7125	15.3491	0.74368	0.0:0.746:0.254:0.0	.	1066	Q4L235	ACSF4_HUMAN	K	1066;966;581	ENSP00000205214:E1066K;ENSP00000423760:E966K;ENSP00000392158:E581K	ENSP00000205214:E1066K	E	-	1	0	AASDH	56899426	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	2.769000	0.47654	2.881000	0.98747	0.650000	0.86243	GAA		0.403	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
PPAT	5471	broad.mit.edu	37	4	57272693	57272693	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57272693C>T	ENST00000264220.2	-	3	507	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	124	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.E124K(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTTACCAATTCGCCATTATGT	0.388																																					p.E124K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	4						.						157.0	133.0	142.0					4																	57272693		2203	4300	6503	56967450	SO:0001583	missense	5471	exon3				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.370G>A	4.37:g.57272693C>T	ENSP00000264220:p.Glu124Lys		56967450	NM_002703		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487725	0.96323	.	.	ENSG00000128059	ENST00000264220	T	0.78707	-1.2	5.62	5.62	0.85841	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	M	0.81682	2.555	0.80722	D	1	D	0.69078	0.997	D	0.67548	0.952	D	0.89484	0.3752	10	0.72032	D	0.01	-30.1128	19.6664	0.95894	0.0:1.0:0.0:0.0	.	124	Q06203	PUR1_HUMAN	K	124	ENSP00000264220:E124K	ENSP00000264220:E124K	E	-	1	0	PPAT	56967450	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	5.739000	0.68622	2.646000	0.89796	0.585000	0.79938	GAA		0.388	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703	
PPAT	5471	broad.mit.edu	37	4	57273841	57273841	+	Missense_Mutation	SNP	G	G	A	rs200714501		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57273841G>A	ENST00000264220.2	-	2	307	c.170C>T	c.(169-171)tCg>tTg	p.S57L	PPAT_ENST00000507648.1_5'UTR|AC068620.1_ENST00000598320.1_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	57	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.S57L(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGTTGGCACCGAACTCCCATC	0.408																																					p.S57L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170T	4						.						156.0	132.0	140.0					4																	57273841		2203	4300	6503	56968598	SO:0001583	missense	5471	exon2				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.170C>T	4.37:g.57273841G>A	ENSP00000264220:p.Ser57Leu		56968598	NM_002703		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493157	0.26774	.	.	ENSG00000128059	ENST00000264220	.	.	.	5.74	3.75	0.43078	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.541698	0.19132	N	0.121904	T	0.28764	0.0713	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.14035	-1.0487	9	0.30078	T	0.28	-1.913	10.3823	0.44119	0.0966:0.1383:0.765:0.0	.	57	Q06203	PUR1_HUMAN	L	57	.	ENSP00000264220:S57L	S	-	2	0	PPAT	56968598	0.999000	0.42202	0.430000	0.26722	0.916000	0.54674	2.817000	0.48034	1.417000	0.47077	0.591000	0.81541	TCG		0.408	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703	
PAICS	10606	broad.mit.edu	37	4	57318158	57318158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57318158C>T	ENST00000512576.1	+	7	1053	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PAICS_ENST00000264221.2_Nonsense_Mutation_p.R298*|PAICS_ENST00000514888.1_Nonsense_Mutation_p.R206*|PAICS_ENST00000399688.3_Nonsense_Mutation_p.R305*	NM_001079524.1	NP_001072992.1	P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	298	AIR carboxylase.				'de novo' IMP biosynthetic process (GO:0006189)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|phosphoribosylaminoimidazole carboxylase activity (GO:0004638)|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity (GO:0004639)	p.R324*(1)		endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ATGTGAACTTCGAGTAACATC	0.408																																					p.R298X	GBM(53;429 1144 8755 40726)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C892T	4						.						53.0	49.0	50.0					4																	57318158		1843	4097	5940	57012915	SO:0001587	stop_gained	10606	exon7			X53793	CCDS47060.1, CCDS47061.1	4q12	2012-07-13			ENSG00000128050	ENSG00000128050	4.1.1.21, 6.3.2.6		8587	protein-coding gene	gene with protein product		172439		PAIS		2253271, 8106516	Standard	NM_006452		Approved	ADE2H1, AIRC	uc003hbt.1	P22234	OTTHUMG00000160957	ENST00000512576.1:c.892C>T	4.37:g.57318158C>T	ENSP00000421096:p.Arg298*		57012915	NM_001079524	E9PDH9|Q68CQ5	Nonsense_Mutation	SNP	ENST00000512576.1	37	CCDS47061.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596517	0.96602	.	.	ENSG00000128050	ENST00000514888;ENST00000264221;ENST00000505164;ENST00000399688;ENST00000512576	.	.	.	4.89	3.06	0.35304	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0721	13.574	0.61864	0.5798:0.4202:0.0:0.0	.	.	.	.	X	206;298;298;305;298	.	ENSP00000264221:R298X	R	+	1	2	PAICS	57012915	0.998000	0.40836	0.997000	0.53966	0.664000	0.39144	1.777000	0.38604	0.512000	0.28257	0.650000	0.86243	CGA		0.408	PAICS-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363136.2	NM_006452	
SRP72	6731	broad.mit.edu	37	4	57342839	57342839	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57342839C>A	ENST00000342756.5	+	6	1334	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRP72_ENST00000510663.1_Missense_Mutation_p.L205I	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	205					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.L205I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TCCTGTAGATCTTTGCCGCCG	0.338																																					p.L205I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C613A	4						.						108.0	107.0	107.0					4																	57342839		2201	4297	6498	57037596	SO:0001583	missense	6731	exon6			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.613C>A	4.37:g.57342839C>A	ENSP00000342181:p.Leu205Ile		57037596	NM_006947	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566501	0.45694	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	D;T	0.94184	-3.37;0.96	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.119442	0.64402	D	0.000018	D	0.95010	0.8385	M	0.66939	2.045	0.24190	N	0.995551	D;B;P	0.54047	0.964;0.399;0.848	P;P;B	0.58820	0.846;0.522;0.437	D	0.89636	0.3859	10	0.33940	T	0.23	.	14.4058	0.67081	0.0:1.0:0.0:0.0	.	205;205;205	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	I	205;211;205;10	ENSP00000342181:L205I;ENSP00000424576:L205I	ENSP00000342181:L205I	L	+	1	0	SRP72	57037596	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	4.378000	0.59568	2.477000	0.83638	0.585000	0.79938	CTT		0.338	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
HOPX	84525	broad.mit.edu	37	4	57514898	57514898	+	Silent	SNP	G	G	A	rs76751592	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57514898G>A	ENST00000337881.7	-	3	866	c.210C>T	c.(208-210)tcC>tcT	p.S70S	HOPX_ENST00000555760.2_Silent_p.S70S|HOPX_ENST00000556614.2_Silent_p.S70S|HOPX_ENST00000381255.3_Silent_p.S70S|HOPX_ENST00000317745.7_Silent_p.S70S|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000553379.2_Silent_p.S70S|HOPX_ENST00000420433.1_Silent_p.S88S|HOPX_ENST00000556376.2_Silent_p.S70S|HOPX_ENST00000508121.1_Silent_p.S88S|HOPX_ENST00000503639.3_Silent_p.S70S	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	70					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S70S(2)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AGTCTGTGACGGATCTGCACT	0.493													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19630	0.0		0.0	False		,,,				2504	0.0				p.S88S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C264T	4						.	G	,,,,	13,4393	20.2+/-43.8	0,13,2190	108.0	100.0	103.0		210,,264,210,210	-1.0	1.0	4	dbSNP_133	103	0,8600		0,0,4300	no	coding-synonymous,utr-3,coding-synonymous,coding-synonymous,coding-synonymous	HOPX	NM_001145459.1,NM_001145460.1,NM_032495.5,NM_139211.4,NM_139212.3	,,,,	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	,,,,	70/74,,88/92,70/74,70/74	57514898	13,12993	2203	4300	6503	57209655	SO:0001819	synonymous_variant	84525	exon4				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.210C>T	4.37:g.57514898G>A			57209655	NM_032495	A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	ENST00000337881.7	37	CCDS3507.1																																																																																				0.493	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4		
SPINK2	6691	broad.mit.edu	37	4	57676321	57676321	+	Missense_Mutation	SNP	C	C	T	rs143868606	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57676321C>T	ENST00000248701.4	-	4	318	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPINK2_ENST00000506738.1_Missense_Mutation_p.R130Q|SPINK2_ENST00000504762.1_Missense_Mutation_p.R115Q	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	80	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R80Q(1)		kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					GGGTCCATTTCGAATGATTTT	0.363																																					p.R80Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	4						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	87.0		239	1.0	0.0	4	dbSNP_134	87	0,8600		0,0,4300	no	missense	SPINK2	NM_021114.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	80/85	57676321	1,13005	2203	4300	6503	57371078	SO:0001583	missense	6691	exon4			BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.239G>A	4.37:g.57676321C>T	ENSP00000248701:p.Arg80Gln		57371078	NM_021114	Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711832	0.30322	2.27E-4	0.0	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.74737	-0.87;-0.87;-0.87	5.16	0.988	0.19796	Proteinase inhibitor I1, Kazal (2);	0.365080	0.19723	N	0.107548	T	0.58004	0.2092	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17979	0.02	T	0.45454	-0.9260	9	0.41790	T	0.15	-6.1753	7.0486	0.25061	0.0:0.5481:0.0:0.4519	.	80	P20155	ISK2_HUMAN	Q	80;130;115	ENSP00000248701:R80Q;ENSP00000425961:R130Q;ENSP00000423858:R115Q	ENSP00000248701:R80Q	R	-	2	0	SPINK2	57371078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.296000	0.08287	-0.031000	0.13781	0.563000	0.77884	CGA		0.363	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	NM_021114	
REST	5978	broad.mit.edu	37	4	57796626	57796626	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57796626G>T	ENST00000309042.7	+	4	1916	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	534	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.V534V(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATGGTCCTGTGAATGATGAGG	0.378																																					p.V534V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1602T	4						.						50.0	51.0	51.0					4																	57796626		2202	4300	6502	57491383	SO:0001819	synonymous_variant	5978	exon4			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1602G>T	4.37:g.57796626G>T			57491383	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
REST	5978	broad.mit.edu	37	4	57797911	57797911	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57797911A>C	ENST00000309042.7	+	4	3201	c.2887A>C	c.(2887-2889)Aat>Cat	p.N963H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	963					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N963H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACTGGTATAAATTCAACAGT	0.418																																					p.N963H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2887C	4						.						71.0	69.0	70.0					4																	57797911		2203	4300	6503	57492668	SO:0001583	missense	5978	exon4			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2887A>C	4.37:g.57797911A>C	ENSP00000311816:p.Asn963His		57492668	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.848400	0.32699	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07688	3.17	5.38	4.53	0.55603	.	0.796161	0.10976	N	0.613292	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	P;P	0.51791	0.948;0.776	B;B	0.43990	0.438;0.187	T	0.36841	-0.9731	10	0.51188	T	0.08	-13.1875	11.417	0.49958	0.0851:0.0:0.9149:0.0	.	940;963	F8WAN5;Q13127	.;REST_HUMAN	H	963;940	ENSP00000311816:N963H	ENSP00000311816:N963H	N	+	1	0	REST	57492668	0.004000	0.15560	0.003000	0.11579	0.000000	0.00434	0.632000	0.24583	1.474000	0.48178	-0.242000	0.12053	AAT		0.418	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
POLR2B	5431	broad.mit.edu	37	4	57881690	57881690	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57881690G>A	ENST00000381227.1	+	15	2236	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	POLR2B_ENST00000431623.2_Missense_Mutation_p.R533Q|POLR2B_ENST00000314595.5_Missense_Mutation_p.R608Q|POLR2B_ENST00000441246.2_Missense_Mutation_p.R601Q|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	608					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.R608Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGAGATATTCGAGAGAGGGAG	0.328																																					p.R608Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1823A	4						.						103.0	109.0	107.0					4																	57881690		2203	4300	6503	57576447	SO:0001583	missense	5431	exon14				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1823G>A	4.37:g.57881690G>A	ENSP00000370625:p.Arg608Gln		57576447	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951081	0.92660	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.74	5.74	0.90152	RNA polymerase Rpb2, domain 4 (1);	0.061153	0.64402	D	0.000010	T	0.79964	0.4537	M	0.79011	2.435	0.80722	D	1	P;P	0.42483	0.781;0.781	B;B	0.38296	0.27;0.27	T	0.82147	-0.0601	10	0.52906	T	0.07	.	19.9173	0.97066	0.0:0.0:1.0:0.0	.	533;608	C9J4M6;P30876	.;RPB2_HUMAN	Q	608;533;601;608	ENSP00000370625:R608Q;ENSP00000391096:R533Q;ENSP00000391452:R601Q;ENSP00000312735:R608Q	ENSP00000312735:R608Q	R	+	2	0	POLR2B	57576447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.582000	0.98214	2.707000	0.92482	0.563000	0.77884	CGA		0.328	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
POLR2B	5431	broad.mit.edu	37	4	57883874	57883874	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:57883874G>A	ENST00000381227.1	+	17	2716	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	POLR2B_ENST00000431623.2_Missense_Mutation_p.R693Q|POLR2B_ENST00000314595.5_Missense_Mutation_p.R768Q|POLR2B_ENST00000441246.2_Missense_Mutation_p.R761Q			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	768					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.R768Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATATCTACGATTTAGAGAG	0.428																																					p.R768Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2303A	4						.						96.0	88.0	91.0					4																	57883874		2203	4300	6503	57578631	SO:0001583	missense	5431	exon16				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2303G>A	4.37:g.57883874G>A	ENSP00000370625:p.Arg768Gln		57578631	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511668	0.96402	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.23	5.23	0.72850	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	L	0.41961	1.31	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.49477	0.612;0.612	T	0.76165	-0.3059	10	0.66056	D	0.02	.	18.7829	0.91941	0.0:0.0:1.0:0.0	.	693;768	C9J4M6;P30876	.;RPB2_HUMAN	Q	768;693;761;768	ENSP00000370625:R768Q;ENSP00000391096:R693Q;ENSP00000391452:R761Q;ENSP00000312735:R768Q	ENSP00000312735:R768Q	R	+	2	0	POLR2B	57578631	1.000000	0.71417	0.619000	0.29118	0.978000	0.69477	9.683000	0.98657	2.437000	0.82529	0.462000	0.41574	CGA		0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
LPHN3	23284	broad.mit.edu	37	4	62598867	62598867	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:62598867G>A	ENST00000514591.1	+	7	1119	c.790G>A	c.(790-792)Gac>Aac	p.D264N	LPHN3_ENST00000507625.1_Missense_Mutation_p.D332N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D332N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D332N|LPHN3_ENST00000545650.1_Missense_Mutation_p.D264N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D264N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D264N|LPHN3_ENST00000512091.2_Missense_Mutation_p.D264N|LPHN3_ENST00000509896.1_Missense_Mutation_p.D332N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D264N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D332N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D332N|LPHN3_ENST00000506746.1_Missense_Mutation_p.D332N|LPHN3_ENST00000504896.1_Missense_Mutation_p.D264N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D264N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	264	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.D264N(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATCTGACATAGACCTGGCAGT	0.428																																					p.D264N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G790A	4						.						77.0	70.0	72.0					4																	62598867		1928	4125	6053	62281462	SO:0001583	missense	23284	exon5			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.790G>A	4.37:g.62598867G>A	ENSP00000422533:p.Asp264Asn		62281462	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407030	0.83230	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97424	0.9157	M	0.91818	3.245	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.85130	0.997;0.997;0.987	D	0.98380	1.0558	10	0.87932	D	0	.	17.6225	0.88086	0.0:0.0:1.0:0.0	.	264;332;264	E9PE04;E7EN28;Q9HAR2-2	.;.;.	N	264;264;332;332;264;264;264;264;264;332;332;332;264;264;264;332;332;264	ENSP00000423388:D264N;ENSP00000422533:D264N;ENSP00000423787:D332N;ENSP00000425033:D332N;ENSP00000424120:D264N;ENSP00000439831:D264N;ENSP00000421476:D332N;ENSP00000424030:D332N;ENSP00000421372:D332N;ENSP00000425201:D264N;ENSP00000423434:D264N;ENSP00000421627:D264N;ENSP00000420931:D332N;ENSP00000425884:D332N;ENSP00000424258:D264N	ENSP00000280009:D264N	D	+	1	0	LPHN3	62281462	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.401000	0.81631	0.557000	0.71058	GAC		0.428	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62845421	62845421	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:62845421G>T	ENST00000514591.1	+	17	3071	c.2742G>T	c.(2740-2742)aaG>aaT	p.K914N	LPHN3_ENST00000507625.1_Missense_Mutation_p.K982N|LPHN3_ENST00000506720.1_Missense_Mutation_p.K982N|LPHN3_ENST00000511324.1_Missense_Mutation_p.K982N|LPHN3_ENST00000545650.1_Missense_Mutation_p.K914N|LPHN3_ENST00000506700.1_Missense_Mutation_p.K914N|LPHN3_ENST00000508946.1_Missense_Mutation_p.K914N|LPHN3_ENST00000512091.2_Missense_Mutation_p.K914N|LPHN3_ENST00000509896.1_Missense_Mutation_p.K982N|LPHN3_ENST00000514157.1_Missense_Mutation_p.K914N|LPHN3_ENST00000507164.1_Missense_Mutation_p.K982N|LPHN3_ENST00000508693.1_Missense_Mutation_p.K982N|LPHN3_ENST00000506746.1_Missense_Mutation_p.K982N|LPHN3_ENST00000504896.1_Missense_Mutation_p.K914N|LPHN3_ENST00000514996.1_Missense_Mutation_p.K914N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	901					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.K914N(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCATCCACAAGAACCTCTGCA	0.473																																					p.K914N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2742T	4						.						177.0	179.0	178.0					4																	62845421		2066	4228	6294	62528016	SO:0001583	missense	23284	exon15			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2742G>T	4.37:g.62845421G>T	ENSP00000422533:p.Lys914Asn		62528016	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.14|18.14	3.557270|3.557270	0.65425|0.65425	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37411	.|1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.5|5.5	4.47|4.47	0.54385|0.54385	.|GPCR, family 2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.63426	.|0.2510	M|M	0.90483|0.90483	3.12|3.12	0.51233|0.51233	D|D	0.999918|0.999918	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.998;0.996	.|T	.|0.69109	.|-0.5232	.|10	.|0.87932	.|D	.|0	.|.	9.5822|9.5822	0.39495|0.39495	0.2153:0.0:0.7847:0.0|0.2153:0.0:0.7847:0.0	.|.	.|914;901;914	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	X|N	372|914;914;982;982;914;914;901;914;982;982;982;914;914;914;982;982;914	.|ENSP00000423388:K914N;ENSP00000422533:K914N;ENSP00000423787:K982N;ENSP00000425033:K982N;ENSP00000424120:K914N;ENSP00000439831:K914N;ENSP00000421476:K982N;ENSP00000424030:K982N;ENSP00000421372:K982N;ENSP00000425201:K914N;ENSP00000423434:K914N;ENSP00000421627:K914N;ENSP00000420931:K982N;ENSP00000425884:K982N;ENSP00000424258:K914N	.|ENSP00000280009:K914N	E|K	+|+	1|3	0|2	LPHN3|LPHN3	62528016|62528016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.693000|2.693000	0.47027|0.47027	2.580000|2.580000	0.87095|0.87095	0.467000|0.467000	0.42956|0.42956	GAA|AAG		0.473	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
TECRL	253017	broad.mit.edu	37	4	65274978	65274978	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:65274978C>A	ENST00000381210.3	-	1	202	c.92G>T	c.(91-93)aGa>aTa	p.R31I	TECRL_ENST00000507440.1_Missense_Mutation_p.R31I	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	31					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.R31I(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGAAAATTTCTCATATCATC	0.418																																					p.R31I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92T	4						.						120.0	121.0	121.0					4																	65274978		2203	4300	6503	64957573	SO:0001583	missense	253017	exon1			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.92G>T	4.37:g.65274978C>A	ENSP00000370607:p.Arg31Ile		64957573	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200085	0.38905	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.50813	0.73;0.73;0.73	4.99	1.79	0.24919	.	0.587910	0.17004	N	0.190810	T	0.42743	0.1216	L	0.51422	1.61	0.42066	D	0.991189	P;P	0.45176	0.852;0.61	P;B	0.44518	0.452;0.147	T	0.40156	-0.9578	10	0.87932	D	0	-10.0544	7.3339	0.26599	0.0:0.6497:0.0:0.3503	.	31;31	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	I	31	ENSP00000426043:R31I;ENSP00000370607:R31I;ENSP00000422497:R31I	ENSP00000370607:R31I	R	-	2	0	TECRL	64957573	0.994000	0.37717	0.991000	0.47740	0.641000	0.38312	0.498000	0.22530	0.626000	0.30322	0.655000	0.94253	AGA		0.418	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
EPHA5	2044	broad.mit.edu	37	4	66201722	66201722	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:66201722T>C	ENST00000273854.3	-	16	3380	c.2780A>G	c.(2779-2781)gAa>gGa	p.E927G	EPHA5_ENST00000511294.1_Missense_Mutation_p.E928G|EPHA5_ENST00000432638.2_Missense_Mutation_p.E764G|EPHA5_ENST00000354839.4_Missense_Mutation_p.E905G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.E927G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTGACTATTTCATCAAACTT	0.483										TSP Lung(17;0.13)																											p.E927G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2780G	4						.						191.0	167.0	175.0					4																	66201722		2203	4299	6502	65884317	SO:0001583	missense	2044	exon16			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2780A>G	4.37:g.66201722T>C	ENSP00000273854:p.Glu927Gly		65884317	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999265	0.74818	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.193605	0.35970	N	0.002865	T	0.78616	0.4311	M	0.88775	2.98	0.58432	D	0.999999	P;P;P;P	0.41080	0.737;0.715;0.692;0.626	P;B;B;B	0.46299	0.511;0.431;0.377;0.198	T	0.82552	-0.0400	10	0.72032	D	0.01	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	906;928;905;927	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	G	927;764;905;928	ENSP00000273854:E927G;ENSP00000389208:E764G;ENSP00000346899:E905G;ENSP00000427638:E928G	ENSP00000273854:E927G	E	-	2	0	EPHA5	65884317	1.000000	0.71417	0.993000	0.49108	0.835000	0.47333	6.305000	0.72805	2.281000	0.76405	0.533000	0.62120	GAA		0.483	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
EPHA5	2044	broad.mit.edu	37	4	66467547	66467547	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:66467547G>A	ENST00000273854.3	-	3	1322	c.722C>T	c.(721-723)gCt>gTt	p.A241V	EPHA5_ENST00000511294.1_Missense_Mutation_p.A241V|EPHA5_ENST00000432638.2_Missense_Mutation_p.A241V|EPHA5_ENST00000354839.4_Missense_Mutation_p.A241V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	241	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.A241V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGGGAAGACAGCCAAGTGTCG	0.458										TSP Lung(17;0.13)																											p.A241V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	4						.						69.0	65.0	67.0					4																	66467547		2203	4300	6503	66150142	SO:0001583	missense	2044	exon3			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.722C>T	4.37:g.66467547G>A	ENSP00000273854:p.Ala241Val		66150142	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956075	0.92726	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.80214	-1.18;-1.35;-1.12;-1.17	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000009	D	0.90769	0.7102	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.967;0.999;0.997	D	0.91080	0.4899	10	0.87932	D	0	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	241;241;241;241	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	241	ENSP00000273854:A241V;ENSP00000389208:A241V;ENSP00000346899:A241V;ENSP00000427638:A241V	ENSP00000273854:A241V	A	-	2	0	EPHA5	66150142	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	GCT		0.458	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
EPHA5	2044	broad.mit.edu	37	4	66467707	66467707	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:66467707G>T	ENST00000273854.3	-	3	1162	c.562C>A	c.(562-564)Ctt>Att	p.L188I	EPHA5_ENST00000511294.1_Missense_Mutation_p.L188I|EPHA5_ENST00000432638.2_Missense_Mutation_p.L188I|EPHA5_ENST00000354839.4_Missense_Mutation_p.L188I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	188	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.L188I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CGGTCACCAAGATCAAGTTCT	0.383										TSP Lung(17;0.13)																											p.L188I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562A	4						.						107.0	100.0	102.0					4																	66467707		2203	4300	6503	66150302	SO:0001583	missense	2044	exon3			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.562C>A	4.37:g.66467707G>T	ENSP00000273854:p.Leu188Ile		66150302	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517203	0.44763	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	5.83	5.83	0.93111	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000044	T	0.19087	0.0458	M	0.72894	2.215	0.54753	D	0.99998	D;P;D;P	0.76494	0.999;0.795;0.998;0.888	D;P;D;B	0.91635	0.999;0.596;0.999;0.406	T	0.00109	-1.2049	10	0.35671	T	0.21	.	13.3392	0.60535	0.072:0.0:0.928:0.0	.	188;188;188;188	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	I	188	ENSP00000273854:L188I;ENSP00000389208:L188I;ENSP00000346899:L188I;ENSP00000427638:L188I	ENSP00000273854:L188I	L	-	1	0	EPHA5	66150302	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	5.823000	0.69272	2.758000	0.94735	0.655000	0.94253	CTT		0.383	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
TMPRSS11D	9407	broad.mit.edu	37	4	68693227	68693227	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:68693227G>T	ENST00000283916.6	-	8	802	c.704C>A	c.(703-705)cCt>cAt	p.P235H	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.P118H	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.P235H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCAGTCACGAGGATTAGAGTT	0.318																																					p.P235H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C704A	4						.						35.0	34.0	34.0					4																	68693227		2203	4298	6501	68375822	SO:0001583	missense	9407	exon8			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.704C>A	4.37:g.68693227G>T	ENSP00000283916:p.Pro235His		68375822	NM_004262	Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717179	0.68844	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88586	-2.4;-2.4	5.58	5.58	0.84498	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.109704	0.41194	D	0.000930	D	0.94262	0.8157	M	0.80982	2.52	0.43885	D	0.996505	D	0.89917	1.0	D	0.73708	0.981	D	0.94386	0.7609	10	0.66056	D	0.02	.	15.4378	0.75160	0.0:0.0:1.0:0.0	.	235	O60235	TM11D_HUMAN	H	235;118	ENSP00000283916:P235H;ENSP00000442045:P118H	ENSP00000283916:P235H	P	-	2	0	TMPRSS11D	68375822	1.000000	0.71417	0.211000	0.23655	0.020000	0.10135	4.368000	0.59505	2.774000	0.95407	0.655000	0.94253	CCT		0.318	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262	
TMPRSS11D	9407	broad.mit.edu	37	4	68725378	68725378	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:68725378C>T	ENST00000283916.6	-	2	125	c.27G>A	c.(25-27)tcG>tcA	p.S9S	TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	9					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.S9S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATCTTGAAGTCGAAGTTACAC	0.393																																					p.S9S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G27A	4						.						94.0	84.0	88.0					4																	68725378		2203	4300	6503	68407973	SO:0001819	synonymous_variant	9407	exon2			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.27G>A	4.37:g.68725378C>T			68407973	NM_004262	Q08AF6	Silent	SNP	ENST00000283916.6	37	CCDS3518.1																																																																																				0.393	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262	
TMPRSS11A	339967	broad.mit.edu	37	4	68784789	68784789	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:68784789G>A	ENST00000334830.7	-	8	1609	c.863C>T	c.(862-864)tCg>tTg	p.S288L	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.S284L|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.S285L|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	288	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			S -> P (in Ref. 1; AAD41463). {ECO:0000305}.	cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S288L(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATGTCATCCGAAAAGGTGAC	0.443																																					p.S288L	NSCLC(26;2 894 10941 14480 22546)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C863T	4						.						161.0	165.0	163.0					4																	68784789		2203	4300	6503	68467384	SO:0001583	missense	339967	exon8			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.863C>T	4.37:g.68784789G>A	ENSP00000334611:p.Ser288Leu		68467384	NM_182606	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529581	0.44969	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113273	0.39341	N	0.001393	D	0.94528	0.8238	M	0.83774	2.66	0.39621	D	0.970031	P;P	0.49862	0.929;0.929	B;B	0.41374	0.355;0.355	D	0.95933	0.8940	10	0.87932	D	0	.	16.5682	0.84604	0.0:0.0:1.0:0.0	.	285;288	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	L	284;288;285;252	ENSP00000426911:S284L;ENSP00000334611:S288L;ENSP00000379491:S285L;ENSP00000427621:S252L	ENSP00000334611:S288L	S	-	2	0	TMPRSS11A	68467384	0.976000	0.34144	0.312000	0.25196	0.086000	0.17979	2.020000	0.41010	2.512000	0.84698	0.591000	0.81541	TCG		0.443	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
TMPRSS11F	389208	broad.mit.edu	37	4	68956276	68956276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:68956276C>A	ENST00000356291.2	-	3	306	c.247G>T	c.(247-249)Gag>Tag	p.E83*		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	83	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E83*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCTATAAACTCTCTTGAAGAT	0.294																																					p.E83X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G247T	4						.						69.0	71.0	71.0					4																	68956276		2203	4295	6498	68638871	SO:0001587	stop_gained	389208	exon3			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.247G>T	4.37:g.68956276C>A	ENSP00000348639:p.Glu83*		68638871	NM_207407	A8MXX2	Nonsense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771195	0.49680	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.43	3.68	0.42216	.	0.119337	0.37577	N	0.002029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	12.7199	0.57136	0.0:0.6833:0.3167:0.0	.	.	.	.	X	83	.	ENSP00000348639:E83X	E	-	1	0	TMPRSS11F	68638871	0.998000	0.40836	0.999000	0.59377	0.164000	0.22412	1.505000	0.35736	0.765000	0.33221	-0.266000	0.10368	GAG		0.294	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
TMPRSS11F	389208	broad.mit.edu	37	4	68956346	68956346	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:68956346G>A	ENST00000356291.2	-	3	236	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	59	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.F59F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAGGTAATAGAAAGACTTAT	0.333																																					p.F59F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	4						.						60.0	64.0	63.0					4																	68956346		2201	4289	6490	68638941	SO:0001819	synonymous_variant	389208	exon3			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.177C>T	4.37:g.68956346G>A			68638941	NM_207407	A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																				0.333	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
TMPRSS11B	132724	broad.mit.edu	37	4	69095086	69095086	+	Nonsense_Mutation	SNP	C	C	A	rs149786976	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69095086C>A	ENST00000332644.5	-	8	996	c.835G>T	c.(835-837)Gaa>Taa	p.E279*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E279*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAAGAAACTTCTTCAGCAAGC	0.373																																					p.E279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	4						.	C	stop/GLU	10,4396	16.8+/-37.8	0,10,2193	91.0	89.0	90.0		835	2.3	0.1	4	dbSNP_134	90	0,8600		0,0,4300	yes	stop-gained	TMPRSS11B	NM_182502.3		0,10,6493	AA,AC,CC		0.0,0.227,0.0769		279/417	69095086	10,12996	2203	4300	6503	68777681	SO:0001587	stop_gained	132724	exon8			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.835G>T	4.37:g.69095086C>A	ENSP00000330475:p.Glu279*		68777681	NM_182502	A8K4D9	Nonsense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329263	0.60743	0.00227	0.0	ENSG00000185873	ENST00000332644	.	.	.	4.99	2.28	0.28536	.	0.677300	0.12822	N	0.436324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	4.2807	0.10831	0.0:0.5505:0.1703:0.2792	.	.	.	.	X	279	.	ENSP00000330475:E279X	E	-	1	0	TMPRSS11B	68777681	0.000000	0.05858	0.091000	0.20842	0.015000	0.08874	-0.278000	0.08490	0.370000	0.24538	0.650000	0.86243	GAA		0.373	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
TMPRSS11B	132724	broad.mit.edu	37	4	69107480	69107480	+	Silent	SNP	C	C	T	rs371254373		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69107480C>T	ENST00000332644.5	-	2	212	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	17						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.T17T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAATAAAGATCGTAGTCCATA	0.388																																					p.T17T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G51A	4						.	C		1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	76.0		51	-8.4	0.0	4		76	0,8600		0,0,4300	no	coding-synonymous	TMPRSS11B	NM_182502.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		17/417	69107480	1,13005	2203	4300	6503	68790075	SO:0001819	synonymous_variant	132724	exon2			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.51G>A	4.37:g.69107480C>T			68790075	NM_182502	A8K4D9	Silent	SNP	ENST00000332644.5	37	CCDS3521.1																																																																																				0.388	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
YTHDC1	91746	broad.mit.edu	37	4	69202828	69202828	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69202828C>T	ENST00000344157.4	-	4	1135	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R267Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R267Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	267					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R267Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GGCCTCACTTCGAGTGTCATA	0.468																																					p.R267Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G800A	4						.						209.0	147.0	168.0					4																	69202828		2203	4300	6503	68885423	SO:0001583	missense	91746	exon4			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.800G>A	4.37:g.69202828C>T	ENSP00000339245:p.Arg267Gln		68885423	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701637	0.68501	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30182	1.54;1.6	5.73	4.89	0.63831	.	0.194283	0.45606	N	0.000349	T	0.25344	0.0616	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.12630	0.006;0.003	B;B	0.09377	0.004;0.002	T	0.03175	-1.1064	10	0.62326	D	0.03	.	14.591	0.68365	0.0:0.9302:0.0:0.0698	.	267;267	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	Q	267	ENSP00000339245:R267Q;ENSP00000347888:R267Q	ENSP00000339245:R267Q	R	-	2	0	YTHDC1	68885423	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.021000	0.76425	1.442000	0.47568	0.585000	0.79938	CGA		0.468	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
UGT2B17	7367	broad.mit.edu	37	4	69403613	69403613	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69403613C>A	ENST00000317746.2	-	6	1365	c.1323G>T	c.(1321-1323)gaG>gaT	p.E441D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	441					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.E441D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TCATGATATTCTCTTTATAGC	0.368																																					p.E441D	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1323T	4						.						63.0	65.0	64.0					4																	69403613		2088	3911	5999	69086208	SO:0001583	missense	7367	exon6			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1323G>T	4.37:g.69403613C>A	ENSP00000320401:p.Glu441Asp		69086208	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	C	3.806	-0.040681	0.07452	.	.	ENSG00000197888	ENST00000317746	T	0.64260	-0.09	2.85	1.04	0.20106	.	0.075834	0.50627	U	0.000109	T	0.66944	0.2841	M	0.82630	2.6	0.21861	N	0.999501	.	.	.	.	.	.	T	0.60505	-0.7250	8	0.72032	D	0.01	.	4.5506	0.12110	0.0:0.5544:0.0:0.4456	.	.	.	.	D	441	ENSP00000320401:E441D	ENSP00000320401:E441D	E	-	3	2	UGT2B17	69086208	0.992000	0.36948	0.048000	0.18961	0.062000	0.15995	0.199000	0.17237	0.518000	0.28383	0.195000	0.17529	GAG		0.368	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2B17	7367	broad.mit.edu	37	4	69434109	69434109	+	Nonsense_Mutation	SNP	C	C	A	rs373276207		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69434109C>A	ENST00000317746.2	-	1	136	c.94G>T	c.(94-96)Gaa>Taa	p.E32*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	32					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.E32*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	TGGCTGTATTCTGTGGGCCAC	0.458																																					p.E32X	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G94T	4						.	C	stop/GLU	0,4204		0,0,2102	190.0	191.0	191.0		94	2.5	0.1	4		191	1,7973		0,1,3986	no	stop-gained	UGT2B17	NM_001077.3		0,1,6088	AA,AC,CC		0.0125,0.0,0.0082		32/531	69434109	1,12177	2102	3987	6089	69116704	SO:0001587	stop_gained	7367	exon1			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.94G>T	4.37:g.69434109C>A	ENSP00000320401:p.Glu32*		69116704	NM_001077		Nonsense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	c	36	5.696949	0.96802	0.0	1.25E-4	ENSG00000197888	ENST00000317746	.	.	.	2.54	2.54	0.30619	.	0.167332	0.37393	U	0.002109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8359	0.46688	0.0:1.0:0.0:0.0	.	.	.	.	X	32	.	ENSP00000320401:E32X	E	-	1	0	UGT2B17	69116704	0.997000	0.39634	0.109000	0.21407	0.968000	0.65278	3.755000	0.55197	1.442000	0.47568	0.393000	0.25936	GAA		0.458	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2A3	79799	broad.mit.edu	37	4	69795633	69795633	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:69795633G>T	ENST00000251566.4	-	6	1512	c.1482C>A	c.(1480-1482)ttC>ttA	p.F494L	UGT2A3_ENST00000420231.2_Missense_Mutation_p.F205L	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	494					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F494L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGCCAGCAGGAACCCAATCA	0.428																																					p.F494L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1482A	4						.						64.0	64.0	64.0					4																	69795633		2203	4300	6503	69830222	SO:0001583	missense	79799	exon6				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1482C>A	4.37:g.69795633G>T	ENSP00000251566:p.Phe494Leu		69830222	NM_024743	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327685	0.24080	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.70986	-0.53;-0.53	2.22	1.34	0.21922	.	0.112278	0.64402	D	0.000009	T	0.74913	0.3779	M	0.70842	2.15	0.31876	N	0.619097	D	0.55385	0.971	P	0.56563	0.801	T	0.76066	-0.3095	10	0.87932	D	0	.	6.6328	0.22867	0.1625:0.0:0.8375:0.0	.	494	Q6UWM9	UD2A3_HUMAN	L	494;205	ENSP00000251566:F494L;ENSP00000440115:F205L	ENSP00000251566:F494L	F	-	3	2	UGT2A3	69830222	0.989000	0.36119	0.093000	0.20910	0.012000	0.07955	0.583000	0.23849	0.271000	0.22005	0.491000	0.48974	TTC		0.428	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
UGT2B11	10720	broad.mit.edu	37	4	70070338	70070338	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70070338G>T	ENST00000446444.1	-	5	1128	c.1120C>A	c.(1120-1122)Cat>Aat	p.H374N	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	374					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H374N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTCCACCATGAGTTATAAAA	0.378																																					p.H374N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1120A	4						.						51.0	55.0	54.0					4																	70070338		2180	4251	6431	70104927	SO:0001583	missense	10720	exon5			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1120C>A	4.37:g.70070338G>T	ENSP00000387683:p.His374Asn		70104927	NM_001073	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.83	1.754956	0.31046	.	.	ENSG00000213759	ENST00000446444	T	0.80738	-1.41	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000001	D	0.92662	0.7668	H	0.98818	4.34	0.28343	N	0.921241	D	0.89917	1.0	D	0.87578	0.998	D	0.85721	0.1325	10	0.87932	D	0	.	9.5515	0.39313	0.0:0.0:1.0:0.0	.	374	O75310	UDB11_HUMAN	N	374	ENSP00000387683:H374N	ENSP00000387683:H374N	H	-	1	0	UGT2B11	70104927	1.000000	0.71417	0.998000	0.56505	0.080000	0.17528	8.339000	0.90041	1.087000	0.41251	0.184000	0.17185	CAT		0.378	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B11	10720	broad.mit.edu	37	4	70080039	70080039	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70080039C>A	ENST00000446444.1	-	1	410	c.402G>T	c.(400-402)aaG>aaT	p.K134N	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	134					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K134N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCATAACTTTCTTATTTGAAA	0.343																																					p.K134N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	4						.						60.0	66.0	64.0					4																	70080039		2203	4297	6500	70114628	SO:0001583	missense	10720	exon1			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.402G>T	4.37:g.70080039C>A	ENSP00000387683:p.Lys134Asn		70114628	NM_001073	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	6.041	0.375990	0.11409	.	.	ENSG00000213759	ENST00000446444	T	0.63417	-0.04	1.96	1.05	0.20165	.	0.249736	0.31404	U	0.007709	T	0.69620	0.3131	M	0.83483	2.645	0.09310	N	1	P	0.43392	0.805	P	0.52672	0.706	T	0.60372	-0.7276	10	0.72032	D	0.01	.	6.0646	0.19856	0.0:0.8104:0.0:0.1896	.	134	O75310	UDB11_HUMAN	N	134	ENSP00000387683:K134N	ENSP00000387683:K134N	K	-	3	2	UGT2B11	70114628	0.000000	0.05858	0.020000	0.16555	0.057000	0.15508	-0.694000	0.05115	1.087000	0.41251	0.184000	0.17185	AAG		0.343	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B28	54490	broad.mit.edu	37	4	70146620	70146620	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70146620G>T	ENST00000335568.5	+	1	404	c.402G>T	c.(400-402)aaG>aaT	p.K134N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K134N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	134					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.K134N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAAATAAGAAAGTTATGA	0.328																																					p.K134N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	4						.						56.0	70.0	66.0					4																	70146620		2132	4277	6409	70181209	SO:0001583	missense	54490	exon1			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.402G>T	4.37:g.70146620G>T	ENSP00000334276:p.Lys134Asn		70181209	NM_053039	B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	10.39	1.338072	0.24253	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.63417	-0.04;-0.04	2.18	1.26	0.21427	.	0.249736	0.31404	U	0.007709	T	0.72574	0.3477	M	0.71581	2.175	0.09310	N	1	D;P	0.89917	1.0;0.699	D;P	0.97110	1.0;0.616	T	0.61496	-0.7051	10	0.72032	D	0.01	.	7.0283	0.24952	0.1592:0.0:0.8408:0.0	.	134;134	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	N	134	ENSP00000334276:K134N;ENSP00000427399:K134N	ENSP00000334276:K134N	K	+	3	2	UGT2B28	70181209	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-1.152000	0.03172	0.220000	0.20860	0.184000	0.17185	AAG		0.328	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	
SULT1B1	27284	broad.mit.edu	37	4	70596372	70596372	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70596372T>G	ENST00000310613.3	-	7	922	c.625A>C	c.(625-627)Att>Ctt	p.I209L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	209					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)	p.I209L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AGAAATCTAATGATCTTCTTG	0.323																																					p.I209L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A625C	4						.						121.0	114.0	116.0					4																	70596372		2202	4300	6502	70630961	SO:0001583	missense	27284	exon7			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.625A>C	4.37:g.70596372T>G	ENSP00000308770:p.Ile209Leu		70630961	NM_014465	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	ENST00000310613.3	37	CCDS3530.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.511908	0.00984	.	.	ENSG00000173597	ENST00000310613	T	0.01474	4.85	4.09	-7.21	0.01490	Sulfotransferase domain (1);	1.915560	0.03114	N	0.162893	T	0.00784	0.0026	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48864	-0.8997	10	0.20046	T	0.44	.	4.6451	0.12568	0.1061:0.1275:0.1055:0.6609	.	209	O43704	ST1B1_HUMAN	L	209	ENSP00000308770:I209L	ENSP00000308770:I209L	I	-	1	0	SULT1B1	70630961	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-2.112000	0.01332	-1.759000	0.01313	0.383000	0.25322	ATT		0.323	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465	
SULT1E1	6783	broad.mit.edu	37	4	70720005	70720005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70720005G>T	ENST00000226444.3	-	4	411	c.299C>A	c.(298-300)tCt>tAt	p.S100Y		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	100					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)	p.S100Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AATTCTAGGAGAATTCATCTC	0.318																																					p.S100Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299A	4						.						89.0	86.0	87.0					4																	70720005		2203	4300	6503	70754594	SO:0001583	missense	6783	exon4			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.299C>A	4.37:g.70720005G>T	ENSP00000226444:p.Ser100Tyr		70754594	NM_005420	Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315147	0.40996	.	.	ENSG00000109193	ENST00000226444	T	0.02421	4.3	4.7	4.7	0.59300	Sulfotransferase domain (1);	0.702056	0.13742	N	0.365881	T	0.27765	0.0683	H	0.97983	4.12	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.39461	-0.9613	10	0.87932	D	0	.	15.5431	0.76070	0.0:0.0:1.0:0.0	.	100;100	Q53X91;P49888	.;ST1E1_HUMAN	Y	100	ENSP00000226444:S100Y	ENSP00000226444:S100Y	S	-	2	0	SULT1E1	70754594	0.997000	0.39634	0.775000	0.31657	0.104000	0.19210	4.160000	0.58164	2.621000	0.88768	0.655000	0.94253	TCT		0.318	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420	
CSN2	1447	broad.mit.edu	37	4	70823339	70823339	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:70823339T>C	ENST00000353151.3	-	5	339	c.328A>G	c.(328-330)Act>Gct	p.T110A		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.T110A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTGCCCTTAGTGTAGACAGTG	0.458																																					p.T110A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A328G	4						.						130.0	124.0	126.0					4																	70823339		2203	4300	6503	70857928	SO:0001583	missense	1447	exon5			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.328A>G	4.37:g.70823339T>C	ENSP00000341030:p.Thr110Ala		70857928	NM_001891	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332911	0.24167	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.37	1.68	0.24146	.	0.424608	0.20470	N	0.091716	T	0.27559	0.0677	L	0.36672	1.1	0.09310	N	1	B	0.20671	0.047	B	0.12156	0.007	T	0.22695	-1.0209	9	0.87932	D	0	-23.1439	3.6745	0.08287	0.2065:0.0:0.588:0.2055	.	110	P05814	CASB_HUMAN	A	110	.	ENSP00000341030:T110A	T	-	1	0	CSN2	70857928	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.429000	0.06982	0.354000	0.24105	-0.219000	0.12488	ACT		0.458	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1		
CSN3	1448	broad.mit.edu	37	4	71115074	71115074	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71115074A>G	ENST00000304954.3	+	4	533	c.447A>G	c.(445-447)gaA>gaG	p.E149E		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.E149E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTGCCACTGAACCAACGGTGG	0.468																																					p.E149E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A447G	4						.						69.0	68.0	69.0					4																	71115074		2203	4300	6503	71149663	SO:0001819	synonymous_variant	1448	exon4			U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.447A>G	4.37:g.71115074A>G			71149663	NM_005212	B2R683|B4DY81|O43191|Q7LDR6	Silent	SNP	ENST00000304954.3	37	CCDS3538.1																																																																																				0.468	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212	
AMTN	401138	broad.mit.edu	37	4	71396769	71396769	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71396769C>T	ENST00000339336.4	+	8	501	c.371C>T	c.(370-372)aCg>aTg	p.T124M	AMTN_ENST00000504451.1_Missense_Mutation_p.T123M	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	124					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)		p.T124M(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CAAATCTTCACGAGCCTCATC	0.488																																					p.T124M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	4						.						41.0	43.0	42.0					4																	71396769		2203	4300	6503	71431358	SO:0001583	missense	401138	exon8			AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.371C>T	4.37:g.71396769C>T	ENSP00000341013:p.Thr124Met		71431358	NM_212557	Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577939	0.45902	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.70045	-0.45;-0.45	5.79	5.79	0.91817	.	0.202573	0.35320	N	0.003282	T	0.72953	0.3525	L	0.29908	0.895	0.33706	D	0.615157	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.80207	-0.1478	10	0.87932	D	0	-3.7977	15.535	0.75996	0.0:1.0:0.0:0.0	.	123;124	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	M	124;123	ENSP00000341013:T124M;ENSP00000422452:T123M	ENSP00000341013:T124M	T	+	2	0	AMTN	71431358	0.957000	0.32711	0.684000	0.30055	0.173000	0.22820	3.659000	0.54489	2.744000	0.94065	0.650000	0.86243	ACG		0.488	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557	
ENAM	10117	broad.mit.edu	37	4	71509135	71509135	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71509135C>A	ENST00000396073.3	+	9	2273	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	664					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.V664V(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAGATGAAGTCTTTCCTGGAC	0.448																																					p.V664V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1992A	4						.						97.0	100.0	99.0					4																	71509135		2203	4300	6503	71727999	SO:0001819	synonymous_variant	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1992C>A	4.37:g.71509135C>A			71727999	NM_031889	Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.448	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
ENAM	10117	broad.mit.edu	37	4	71509251	71509251	+	Missense_Mutation	SNP	C	C	T	rs375773209		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71509251C>T	ENST00000396073.3	+	9	2389	c.2108C>T	c.(2107-2109)tCt>tTt	p.S703F	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	703					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.S703F(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCCCTATTCTTTAGATAAT	0.393																																					p.S703F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2108T	4						.						73.0	74.0	74.0					4																	71509251		2203	4300	6503	71728115	SO:0001583	missense	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2108C>T	4.37:g.71509251C>T	ENSP00000379383:p.Ser703Phe		71728115	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125610	0.06795	.	.	ENSG00000132464	ENST00000396073	T	0.37058	1.22	6.01	4.28	0.50868	.	0.343710	0.25607	N	0.029501	T	0.38214	0.1032	M	0.63428	1.95	0.09310	N	1	B	0.27971	0.196	B	0.35813	0.211	T	0.39761	-0.9598	10	0.62326	D	0.03	-0.6969	8.0652	0.30657	0.1565:0.7634:0.0:0.0801	.	703	Q9NRM1	ENAM_HUMAN	F	703	ENSP00000379383:S703F	ENSP00000379383:S703F	S	+	2	0	ENAM	71728115	0.088000	0.21588	0.036000	0.18154	0.099000	0.18886	1.230000	0.32612	0.863000	0.35553	0.655000	0.94253	TCT		0.393	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
IGJ	3512	broad.mit.edu	37	4	71527815	71527815	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71527815C>T	ENST00000254801.4	-	2	351	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.R77Q	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	61					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)	p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACATAATTCGGATGTTTCT	0.398																																					p.R61Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G182A	4						.						146.0	141.0	143.0					4																	71527815		2203	4300	6503	71746679	SO:0001583	missense	3512	exon2			M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.182G>A	4.37:g.71527815C>T	ENSP00000254801:p.Arg61Gln		71746679	NM_144646		Missense_Mutation	SNP	ENST00000254801.4	37	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500367	0.64298	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000039	T	0.67401	0.2889	L	0.36672	1.1	0.37448	D	0.914689	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68930	-0.5279	9	0.37606	T	0.19	.	16.1719	0.81822	0.0:1.0:0.0:0.0	.	77;61	D6RHJ6;P01591	.;IGJ_HUMAN	Q	61;61;77;70;77;61	.	ENSP00000254801:R61Q	R	-	2	0	IGJ	71746679	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.296000	0.51802	2.554000	0.86153	0.650000	0.86243	CGA		0.398	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646	
GRSF1	2926	broad.mit.edu	37	4	71693716	71693716	+	Nonsense_Mutation	SNP	G	G	A	rs550281419		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71693716G>A	ENST00000254799.6	-	6	1105	c.988C>T	c.(988-990)Cga>Tga	p.R330*	GRSF1_ENST00000502323.1_Nonsense_Mutation_p.R168*|GRSF1_ENST00000439371.1_Nonsense_Mutation_p.R168*|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Nonsense_Mutation_p.R212*	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	330					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R330*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ACATGTGTTCGAACTTCATTC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.0		0.0	False		,,,				2504	0.001				p.R168X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C502T	4						.						146.0	134.0	138.0					4																	71693716		1841	4088	5929	71912580	SO:0001587	stop_gained	2926	exon6			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.988C>T	4.37:g.71693716G>A	ENSP00000254799:p.Arg330*		71912580	NM_001098477	B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Nonsense_Mutation	SNP	ENST00000254799.6	37	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	G	41	8.840857	0.98974	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	.	.	.	6.07	6.07	0.98685	.	0.268407	0.37857	N	0.001914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9839	19.424	0.94734	0.0:0.0:1.0:0.0	.	.	.	.	X	330;168;262;303;168;212	.	ENSP00000254799:R330X	R	-	1	2	GRSF1	71912580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.415000	0.73328	2.890000	0.99128	0.585000	0.79938	CGA		0.353	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092	
DCK	1633	broad.mit.edu	37	4	71895075	71895075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:71895075G>T	ENST00000286648.5	+	7	1160	c.763G>T	c.(763-765)Gag>Tag	p.E255*	DCK_ENST00000504952.1_Missense_Mutation_p.R287I|DCK_ENST00000504730.1_3'UTR	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	255					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)	p.E255*(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TCAGGTCAAAGAGTTTTTGAG	0.313																																					p.E255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G763T	4						.						76.0	75.0	75.0					4																	71895075		2203	4300	6503	72113939	SO:0001587	stop_gained	1633	exon7			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.763G>T	4.37:g.71895075G>T	ENSP00000286648:p.Glu255*		72113939	NM_000788	B2R8V6|Q5TZY7|Q6FI11	Nonsense_Mutation	SNP	ENST00000286648.5	37	CCDS3548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.753236|7.753236	0.98471|0.98471	.|.	.|.	ENSG00000156136|ENSG00000156136	ENST00000286648|ENST00000504952	.|D	.|0.98822	.|-5.16	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.401672|.	0.29073|.	N|.	0.013222|.	.|D	.|0.99017	.|0.9664	.|.	.|.	.|.	0.50039|0.50039	D|D	0.999848|0.999848	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.99806	.|1.1038	.|6	0.16896|0.87932	T|D	0.51|0	.|.	18.1914|18.1914	0.89808|0.89808	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	255|287	.|ENSP00000421508:R287I	ENSP00000286648:E255X|ENSP00000421508:R287I	E|R	+|+	1|2	0|0	DCK|DCK	72113939|72113939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	5.905000|5.905000	0.69893|0.69893	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.313	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2		
SLC4A4	8671	broad.mit.edu	37	4	72205111	72205111	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72205111G>A	ENST00000264485.5	+	4	395	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	SLC4A4_ENST00000351898.6_Missense_Mutation_p.R93Q|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R93Q|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R49Q|SLC4A4_ENST00000340595.3_Missense_Mutation_p.R49Q	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	93					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R49Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAACGCATCCGATTCATCTTG	0.557																																					p.R93Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G278A	4						.						163.0	169.0	167.0					4																	72205111		2203	4300	6503	72423975	SO:0001583	missense	8671	exon4			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.278G>A	4.37:g.72205111G>A	ENSP00000264485:p.Arg93Gln		72423975	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959732	0.34565	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.76186	-0.97;-0.98;-0.6;0.18;-1.0	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	L	0.27053	0.805	0.80722	D	1	P;P;D;D;P	0.89917	0.887;0.595;0.964;1.0;0.852	B;B;P;D;B	0.87578	0.148;0.163;0.53;0.998;0.148	T	0.68573	-0.5373	10	0.02654	T	1	.	19.3765	0.94512	0.0:0.0:1.0:0.0	.	93;93;49;49;93	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R1	.;.;.;.;S4A4_HUMAN	Q	93;93;93;49;49	ENSP00000264485:R93Q;ENSP00000393557:R93Q;ENSP00000307349:R93Q;ENSP00000422400:R49Q;ENSP00000344272:R49Q	ENSP00000264485:R93Q	R	+	2	0	SLC4A4	72423975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.566000	0.86566	0.591000	0.81541	CGA		0.557	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
SLC4A4	8671	broad.mit.edu	37	4	72316936	72316936	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72316936C>A	ENST00000264485.5	+	11	1357	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	SLC4A4_ENST00000351898.6_Missense_Mutation_p.Q414K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Q414K|SLC4A4_ENST00000512686.1_Missense_Mutation_p.Q370K|SLC4A4_ENST00000340595.3_Missense_Mutation_p.Q370K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	414					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.Q370K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGAGAATGTTCAGATGAATGG	0.438																																					p.Q414K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1240A	4						.						180.0	154.0	163.0					4																	72316936		2203	4300	6503	72535800	SO:0001583	missense	8671	exon11			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1240C>A	4.37:g.72316936C>A	ENSP00000264485:p.Gln414Lys		72535800	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468431	0.43839	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.77358	-1.09;-1.09;-0.71;0.11;-1.08	6.08	6.08	0.98989	.	2.041620	0.01435	N	0.014897	D	0.87545	0.6204	M	0.70595	2.14	0.80722	D	1	B;D;B;B;B;B	0.58970	0.01;0.984;0.002;0.005;0.021;0.006	B;P;B;B;B;B	0.58454	0.013;0.839;0.012;0.009;0.022;0.009	T	0.75379	-0.3338	10	0.05833	T	0.94	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	414;414;370;370;394;414	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	K	414;414;414;370;370	ENSP00000264485:Q414K;ENSP00000393557:Q414K;ENSP00000307349:Q414K;ENSP00000422400:Q370K;ENSP00000344272:Q370K	ENSP00000264485:Q414K	Q	+	1	0	SLC4A4	72535800	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.463000	0.80869	2.894000	0.99253	0.655000	0.94253	CAG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
SLC4A4	8671	broad.mit.edu	37	4	72412159	72412159	+	Silent	SNP	G	G	A	rs199806973		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72412159G>A	ENST00000264485.5	+	19	2652	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Silent_p.T845T|SLC4A4_ENST00000340595.3_Silent_p.T801T	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	845					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.T801T(1)|p.T845T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TAGCTGCTACGGTCATCTCCA	0.478																																					p.T845T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2535A	4						.	G	,,	0,4406		0,0,2203	218.0	167.0	184.0		2535,2535,2403	-6.1	0.8	4		184	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	845/1080,845/1095,801/1036	72412159	1,13003	2203	4299	6502	72631023	SO:0001819	synonymous_variant	8671	exon19			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2535G>A	4.37:g.72412159G>A			72631023	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	CCDS43236.1																																																																																				0.478	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
SLC4A4	8671	broad.mit.edu	37	4	72433563	72433563	+	3'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72433563G>T	ENST00000264485.5	+	0	3452				SLC4A4_ENST00000351898.6_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D1080Y|SLC4A4_ENST00000340595.3_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.D1080Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGAACCTGAAGACAATGATTA	0.323																																					p.D1080Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3238T	4						.						68.0	61.0	63.0					4																	72433563		1559	3568	5127	72652427	SO:0001624	3_prime_UTR_variant	8671	exon25			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.*95G>T	4.37:g.72433563G>T			72652427	NM_001134742	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	3'UTR	SNP	ENST00000264485.5	37	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037515	0.54896	.	.	ENSG00000080493	ENST00000425175	T	0.79141	-1.24	5.62	5.62	0.85841	.	.	.	.	.	T	0.78071	0.4226	N	0.22421	0.69	0.47214	D	0.999356	D	0.58970	0.984	P	0.54499	0.754	T	0.78610	-0.2137	9	0.48119	T	0.1	.	20.0172	0.97481	0.0:0.0:1.0:0.0	.	1080	A5JJ20	.	Y	1080	ENSP00000393557:D1080Y	ENSP00000393557:D1080Y	D	+	1	0	SLC4A4	72652427	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.055000	0.71103	2.814000	0.96858	0.585000	0.79938	GAC		0.323	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	
GC	2638	broad.mit.edu	37	4	72631190	72631190	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72631190G>T	ENST00000273951.8	-	4	775	c.432C>A	c.(430-432)atC>atA	p.I144I	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.I144I|GC_ENST00000504199.1_Silent_p.I163I	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	144	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.I144I(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	ACGCCTCACAGATTTCATCAT	0.448																																					p.I144I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C432A	4						.						183.0	176.0	178.0					4																	72631190		2203	4300	6503	72850054	SO:0001819	synonymous_variant	2638	exon4			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.432C>A	4.37:g.72631190G>T			72850054	NM_000583	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Silent	SNP	ENST00000273951.8	37	CCDS3550.1																																																																																				0.448	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2		
NPFFR2	10886	broad.mit.edu	37	4	72897794	72897794	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:72897794G>A	ENST00000308744.6	+	1	274	c.176G>A	c.(175-177)cGt>cAt	p.R59H	NPFFR2_ENST00000344413.5_Missense_Mutation_p.R59H	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	59					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.R59H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGGGACAGACGTCGGCTGGGA	0.677																																					p.R59H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	4						.						32.0	36.0	35.0					4																	72897794		2203	4300	6503	73116658	SO:0001583	missense	10886	exon1			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.176G>A	4.37:g.72897794G>A	ENSP00000307822:p.Arg59His		73116658	NM_004885	Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622314	0.28889	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.76060	-0.99	2.8	1.03	0.20045	.	.	.	.	.	T	0.42245	0.1194	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.29663	0.105	T	0.37454	-0.9705	9	0.44086	T	0.13	.	5.1384	0.14947	0.0:0.2333:0.5267:0.24	.	59	Q9Y5X5	NPFF2_HUMAN	H	59	ENSP00000307822:R59H	ENSP00000307822:R59H	R	+	2	0	NPFFR2	73116658	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.108000	0.15396	0.247000	0.21414	0.491000	0.48974	CGT		0.677	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
ADAMTS3	9508	broad.mit.edu	37	4	73161478	73161478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73161478G>T	ENST00000286657.4	-	19	2652	c.2616C>A	c.(2614-2616)tgC>tgA	p.C872*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	872	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C872*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTCCTACGGCATCCATATT	0.368																																					p.C872X	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2616A	4						.						133.0	119.0	124.0					4																	73161478		2203	4300	6503	73380342	SO:0001587	stop_gained	9508	exon19			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2616C>A	4.37:g.73161478G>T	ENSP00000286657:p.Cys872*		73380342	NM_014243	A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	39	7.462029	0.98299	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.14	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8367	0.46692	0.1524:0.0:0.8476:0.0	.	.	.	.	X	872	.	ENSP00000286657:C872X	C	-	3	2	ADAMTS3	73380342	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.341000	0.43983	1.159000	0.42565	-0.142000	0.14014	TGC		0.368	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73164028	73164028	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73164028C>A	ENST00000286657.4	-	18	2592	c.2556G>T	c.(2554-2556)aaG>aaT	p.K852N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	852	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K852N(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGACCAGCTCTTCAAAGCCC	0.378																																					p.K852N	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2556T	4						.						142.0	129.0	134.0					4																	73164028		2203	4300	6503	73382892	SO:0001583	missense	9508	exon18			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2556G>T	4.37:g.73164028C>A	ENSP00000286657:p.Lys852Asn		73382892	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116883	0.77323	.	.	ENSG00000156140	ENST00000286657	T	0.60424	0.19	5.73	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.71634	0.3363	M	0.76170	2.325	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	T	0.69468	-0.5137	10	0.21014	T	0.42	.	11.8311	0.52297	0.0:0.8037:0.0:0.1963	.	852	O15072	ATS3_HUMAN	N	852	ENSP00000286657:K852N	ENSP00000286657:K852N	K	-	3	2	ADAMTS3	73382892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.603000	0.61105	1.412000	0.46977	0.650000	0.86243	AAG		0.378	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73171775	73171775	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73171775T>G	ENST00000286657.4	-	16	2225	c.2189A>C	c.(2188-2190)aAg>aCg	p.K730T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	730	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K730T(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCAAACATCTTAAGGTACCC	0.408																																					p.K730T	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2189C	4						.						106.0	108.0	107.0					4																	73171775		2203	4300	6503	73390639	SO:0001583	missense	9508	exon16			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2189A>C	4.37:g.73171775T>G	ENSP00000286657:p.Lys730Thr		73390639	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479220	0.84747	.	.	ENSG00000156140	ENST00000286657	T	0.52754	0.65	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.68317	2.08	0.50813	D	0.999897	D	0.69078	0.997	D	0.72338	0.977	T	0.61816	-0.6985	10	0.24483	T	0.36	.	15.6325	0.76923	0.0:0.0:0.0:1.0	.	730	O15072	ATS3_HUMAN	T	730	ENSP00000286657:K730T	ENSP00000286657:K730T	K	-	2	0	ADAMTS3	73390639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.150000	0.67090	0.528000	0.53228	AAG		0.408	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73176800	73176800	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73176800C>A	ENST00000286657.4	-	14	2056	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	674	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D674Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTATATGGATCTTTGTAAGAA	0.433																																					p.D674Y	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2020T	4						.						226.0	177.0	194.0					4																	73176800		2203	4300	6503	73395664	SO:0001583	missense	9508	exon14			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2020G>T	4.37:g.73176800C>A	ENSP00000286657:p.Asp674Tyr		73395664	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584824	0.86748	.	.	ENSG00000156140	ENST00000286657	T	0.69561	-0.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83979	0.0331	10	0.66056	D	0.02	.	19.4627	0.94924	0.0:1.0:0.0:0.0	.	674	O15072	ATS3_HUMAN	Y	674	ENSP00000286657:D674Y	ENSP00000286657:D674Y	D	-	1	0	ADAMTS3	73395664	1.000000	0.71417	0.985000	0.45067	0.658000	0.38924	7.461000	0.80834	2.709000	0.92574	0.655000	0.94253	GAT		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ADAMTS3	9508	broad.mit.edu	37	4	73185068	73185068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73185068C>A	ENST00000286657.4	-	9	1369	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	445	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E445*(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTTTCAGTTCTTGACCACTG	0.448																																					p.E445X	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1333T	4						.						142.0	118.0	126.0					4																	73185068		2203	4300	6503	73403932	SO:0001587	stop_gained	9508	exon9			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1333G>T	4.37:g.73185068C>A	ENSP00000286657:p.Glu445*		73403932	NM_014243	A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	37	6.625934	0.97714	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	.	.	.	X	445	.	ENSP00000286657:E445X	E	-	1	0	ADAMTS3	73403932	1.000000	0.71417	0.944000	0.38274	0.795000	0.44927	7.743000	0.85020	2.802000	0.96397	0.655000	0.94253	GAA		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
COX18	285521	broad.mit.edu	37	4	73923972	73923972	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73923972G>A	ENST00000295890.4	-	6	952	c.861C>T	c.(859-861)ttC>ttT	p.F287F	COX18_ENST00000507544.2_Silent_p.F288F	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	287					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)	p.F287F(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGCCCACGAAGCTGGAGC	0.408																																					p.F287F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	4						.						95.0	94.0	94.0					4																	73923972		2203	4300	6503	74142836	SO:0001819	synonymous_variant	285521	exon6			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.861C>T	4.37:g.73923972G>A			74142836	NM_173827	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	CCDS3554.1																																																																																				0.408	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827	
COX18	285521	broad.mit.edu	37	4	73931115	73931115	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73931115C>A	ENST00000295890.4	-	3	541	c.450G>T	c.(448-450)aaG>aaT	p.K150N	COX18_ENST00000507544.2_Missense_Mutation_p.K150N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	150					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)	p.K150N(1)		large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCTCATATTCTTTAGATAAG	0.413																																					p.K150N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G450T	4						.						87.0	86.0	87.0					4																	73931115		2203	4300	6503	74149979	SO:0001583	missense	285521	exon3			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.450G>T	4.37:g.73931115C>A	ENSP00000295890:p.Lys150Asn		74149979	NM_173827	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	ENST00000295890.4	37	CCDS3554.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043912	0.75732	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.38	4.48	0.54585	.	0.231844	0.50627	D	0.000109	T	0.56426	0.1984	L	0.38175	1.15	0.48135	D	0.999593	B;B	0.18741	0.03;0.027	B;B	0.31337	0.128;0.128	T	0.52185	-0.8609	9	0.31617	T	0.26	-6.5363	16.4567	0.84019	0.0:0.8246:0.1754:0.0	.	150;150	B7ZL88;Q8N8Q8	.;COX18_HUMAN	N	150	.	ENSP00000295890:K150N	K	-	3	2	COX18	74149979	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.210000	0.32370	2.675000	0.91044	0.655000	0.94253	AAG		0.413	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827	
ANKRD17	26057	broad.mit.edu	37	4	73984409	73984409	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:73984409C>A	ENST00000358602.4	-	22	4300	c.4184G>T	c.(4183-4185)aGa>aTa	p.R1395I	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1144I|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1282I|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1395					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1395I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTATACCTTTCTAAATGCTGC	0.413																																					p.R1144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3431T	4						.						163.0	148.0	153.0					4																	73984409		2203	4300	6503	74203273	SO:0001583	missense	26057	exon21			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4184G>T	4.37:g.73984409C>A	ENSP00000351416:p.Arg1395Ile		74203273	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133127	0.94517	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.66099	-0.19;-0.19;-0.19	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000020	T	0.71082	0.3298	N	0.25789	0.76	0.80722	D	1	D;D;D;D;P	0.76494	0.999;0.997;0.997;0.997;0.954	D;D;D;D;P	0.83275	0.991;0.994;0.994;0.996;0.691	T	0.73448	-0.3979	10	0.59425	D	0.04	.	19.535	0.95247	0.0:1.0:0.0:0.0	.	916;1394;1144;1395;1282	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	I	1395;1144;1282	ENSP00000351416:R1395I;ENSP00000332265:R1144I;ENSP00000427151:R1282I	ENSP00000332265:R1144I	R	-	2	0	ANKRD17	74203273	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	AGA		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	broad.mit.edu	37	4	74005398	74005398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74005398C>A	ENST00000358602.4	-	15	3051	c.2935G>T	c.(2935-2937)Gaa>Taa	p.E979*	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E866*|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	979	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E979*(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTGCAGTTCTGTAAGATTT	0.547																																					p.E979X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2935T	4						.						71.0	64.0	66.0					4																	74005398		2203	4300	6503	74224262	SO:0001587	stop_gained	26057	exon15			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2935G>T	4.37:g.74005398C>A	ENSP00000351416:p.Glu979*		74224262	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Nonsense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	37	6.010228	0.97200	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	.	.	.	5.87	5.87	0.94306	.	0.078469	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	979;979;866;979	.	ENSP00000351416:E979X	E	-	1	0	ANKRD17	74224262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.265000	0.78442	2.941000	0.99782	0.655000	0.94253	GAA		0.547	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	broad.mit.edu	37	4	74013036	74013036	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74013036C>T	ENST00000358602.4	-	9	1797	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E561K|ANKRD17_ENST00000509867.2_Missense_Mutation_p.E448K|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	561					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E561K(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACCCTAGTTCTATATCGGCT	0.443																																					p.E561K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1681A	4						.						84.0	85.0	84.0					4																	74013036		2202	4300	6502	74231900	SO:0001583	missense	26057	exon9			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1681G>A	4.37:g.74013036C>T	ENSP00000351416:p.Glu561Lys		74231900	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.637813	0.96693	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.15834	2.39;2.39;2.39	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.37732	0.1014	L	0.43598	1.365	0.48762	D	0.9997	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.83275	0.995;0.996;0.994;0.987	T	0.04255	-1.0965	10	0.72032	D	0.01	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	561;561;561;448	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	K	561;561;561;448;561	ENSP00000351416:E561K;ENSP00000332265:E561K;ENSP00000427151:E448K	ENSP00000332265:E561K	E	-	1	0	ANKRD17	74231900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.756000	0.94617	0.655000	0.94253	GAA		0.443	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ALB	213	broad.mit.edu	37	4	74275168	74275168	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74275168C>T	ENST00000503124.1	+	3	336	c.129C>T	c.(127-129)tgC>tgT	p.C43C	ALB_ENST00000509063.1_Silent_p.C193C|ALB_ENST00000295897.4_Silent_p.C193C|ALB_ENST00000401494.3_Silent_p.C78C|ALB_ENST00000415165.2_Intron|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.C193C(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGAATGTTGCCAAGCTGCTG	0.373																																					p.C193C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	4						.						75.0	78.0	77.0					4																	74275168		2203	4299	6502	74494032	SO:0001819	synonymous_variant	213	exon5			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.129C>T	4.37:g.74275168C>T			74494032	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	C	13.23	2.173902	0.38413	.	.	ENSG00000163631	ENST00000511370	.	.	.	5.55	-0.26	0.12967	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54702	-0.8254	4	.	.	.	-16.0207	12.3091	0.54918	0.0:0.5531:0.0:0.4469	.	.	.	.	S	38	.	.	P	+	1	0	ALB	74494032	0.020000	0.18652	0.020000	0.16555	0.062000	0.15995	0.033000	0.13754	-0.245000	0.09625	-1.094000	0.02160	CCA		0.373	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
AFM	173	broad.mit.edu	37	4	74349679	74349679	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74349679A>C	ENST00000226355.3	+	2	203	c.110A>C	c.(109-111)aAa>aCa	p.K37T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	37	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.K37T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTACTCAAAAATTTATAGAA	0.239																																					p.K37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A110C	4						.						23.0	27.0	26.0					4																	74349679		2101	4212	6313	74568543	SO:0001583	missense	173	exon2			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.110A>C	4.37:g.74349679A>C	ENSP00000226355:p.Lys37Thr		74568543	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144812	0.21288	.	.	ENSG00000079557	ENST00000226355	T	0.73789	-0.78	4.8	2.25	0.28309	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.768392	0.12309	N	0.480386	T	0.67534	0.2903	L	0.60455	1.87	0.24564	N	0.993958	B	0.23937	0.094	B	0.29942	0.109	T	0.56183	-0.8021	10	0.32370	T	0.25	.	4.8902	0.13722	0.7128:0.1879:0.0994:0.0	.	37	P43652	AFAM_HUMAN	T	37	ENSP00000226355:K37T	ENSP00000226355:K37T	K	+	2	0	AFM	74568543	1.000000	0.71417	0.994000	0.49952	0.028000	0.11728	3.412000	0.52679	0.268000	0.21939	0.533000	0.62120	AAA		0.239	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
AFM	173	broad.mit.edu	37	4	74351683	74351683	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74351683C>A	ENST00000226355.3	+	4	468	c.375C>A	c.(373-375)ttC>ttA	p.F125L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	125	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.F125L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTCTGTTTCTTCTATAACA	0.418																																					p.F125L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C375A	4						.						103.0	104.0	104.0					4																	74351683		2203	4300	6503	74570547	SO:0001583	missense	173	exon4			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.375C>A	4.37:g.74351683C>A	ENSP00000226355:p.Phe125Leu		74570547	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049531	0.55218	.	.	ENSG00000079557	ENST00000226355	T	0.72615	-0.67	4.86	4.86	0.63082	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.060315	0.64402	D	0.000002	T	0.79064	0.4383	L	0.53249	1.67	0.46654	D	0.999143	D	0.89917	1.0	D	0.87578	0.998	T	0.75093	-0.3439	10	0.23891	T	0.37	.	13.8506	0.63494	0.0:1.0:0.0:0.0	.	125	P43652	AFAM_HUMAN	L	125	ENSP00000226355:F125L	ENSP00000226355:F125L	F	+	3	2	AFM	74570547	0.376000	0.25098	0.985000	0.45067	0.779000	0.44077	0.172000	0.16704	2.411000	0.81874	0.591000	0.81541	TTC		0.418	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
AFM	173	broad.mit.edu	37	4	74354425	74354425	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74354425C>A	ENST00000226355.3	+	7	885	c.792C>A	c.(790-792)tcC>tcA	p.S264S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	264	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.S264S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGTTTCTTCCAACTATGATG	0.363																																					p.S264S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792A	4						.						140.0	140.0	140.0					4																	74354425		2203	4300	6503	74573289	SO:0001819	synonymous_variant	173	exon7			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.792C>A	4.37:g.74354425C>A			74573289	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Silent	SNP	ENST00000226355.3	37	CCDS3557.1																																																																																				0.363	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
AFM	173	broad.mit.edu	37	4	74364929	74364929	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74364929C>T	ENST00000226355.3	+	11	1481	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	463	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.T463M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTGCTGTACGCTAAGTGAA	0.413																																					p.T463M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1388T	4						.						159.0	139.0	146.0					4																	74364929		2203	4300	6503	74583793	SO:0001583	missense	173	exon11			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1388C>T	4.37:g.74364929C>T	ENSP00000226355:p.Thr463Met		74583793	NM_001133	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180275	0.21787	.	.	ENSG00000079557	ENST00000226355	T	0.73258	-0.73	5.55	3.8	0.43715	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.576081	0.17417	N	0.174987	T	0.67183	0.2866	L	0.55103	1.725	0.09310	N	1	D	0.54047	0.964	P	0.47786	0.557	T	0.59637	-0.7417	10	0.48119	T	0.1	.	6.3034	0.21125	0.1841:0.725:0.0:0.0909	.	463	P43652	AFAM_HUMAN	M	463	ENSP00000226355:T463M	ENSP00000226355:T463M	T	+	2	0	AFM	74583793	0.000000	0.05858	0.273000	0.24645	0.014000	0.08584	-0.369000	0.07533	1.329000	0.45376	0.655000	0.94253	ACG		0.413	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		
CXCL8	3576	broad.mit.edu	37	4	74608172	74608172	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74608172G>T	ENST00000307407.3	+	4	444	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_000584.3	NP_000575.1	P10145	IL8_HUMAN		97					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)	p.E97D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		ttaGGGCTGAGAATTCATAAA	0.318																																					p.E97D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G291T	4						.						22.0	23.0	23.0					4																	74608172		2195	4293	6488	74827036	SO:0001583	missense	3576	exon4																														ENST00000307407.3:c.291G>T	4.37:g.74608172G>T	ENSP00000306512:p.Glu97Asp		74827036	NM_000584	B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Missense_Mutation	SNP	ENST00000307407.3	37	CCDS34005.1	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102751	0.20632	.	.	ENSG00000169429	ENST00000307407	T	0.04083	3.71	4.29	1.55	0.23275	.	0.604084	0.18345	N	0.144041	T	0.03739	0.0106	.	.	.	0.47778	D	0.999518	B	0.17667	0.023	B	0.17098	0.017	T	0.43972	-0.9358	9	0.41790	T	0.15	-7.9781	4.3261	0.11041	0.2109:0.1892:0.5999:0.0	.	97	P10145	IL8_HUMAN	D	97	ENSP00000306512:E97D	ENSP00000306512:E97D	E	+	3	2	IL8	74827036	0.817000	0.29147	0.310000	0.25168	0.012000	0.07955	0.783000	0.26802	0.176000	0.19873	-0.965000	0.02619	GAG		0.318	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322211.1		
CXCL5	6374	broad.mit.edu	37	4	74864006	74864006	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:74864006C>A	ENST00000296027.4	-	2	356	c.159G>T	c.(157-159)caG>caT	p.Q53H		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	53					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.Q53H(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTTGCGTGGTCTGTAAACAAA	0.522																																					p.Q53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G159T	4						.						88.0	86.0	87.0					4																	74864006		2203	4300	6503	75082870	SO:0001583	missense	6374	exon2			X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.159G>T	4.37:g.74864006C>A	ENSP00000296027:p.Gln53His		75082870	NM_002994	Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	C	6.034	0.374577	0.11409	.	.	ENSG00000163735	ENST00000296027	T	0.05025	3.51	3.78	0.81	0.18732	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.733170	0.02825	N	0.125983	T	0.05135	0.0137	N	0.17594	0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.37606	T	0.19	.	6.4159	0.21715	0.0:0.39:0.4191:0.1909	.	53	P42830	CXCL5_HUMAN	H	53	ENSP00000296027:Q53H	ENSP00000296027:Q53H	Q	-	3	2	CXCL5	75082870	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.186000	0.09670	0.800000	0.34041	-0.840000	0.03056	CAG		0.522	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994	
G3BP2	9908	broad.mit.edu	37	4	76570618	76570618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76570618C>T	ENST00000359707.4	-	12	2230	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	G3BP2_ENST00000395719.3_Missense_Mutation_p.R482H|G3BP2_ENST00000357854.3_Missense_Mutation_p.R449H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	482					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R482H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGAGCTTCAGCGACGCTGTCC	0.502																																					p.R449H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346A	4						.						74.0	65.0	68.0					4																	76570618		2203	4300	6503	76789642	SO:0001583	missense	9908	exon11			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1445G>A	4.37:g.76570618C>T	ENSP00000352738:p.Arg482His		76789642	NM_203504	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516982	0.64634	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.79033	-1.2;-1.2;-1.23	6.17	4.44	0.53790	.	0.091257	0.85682	D	0.000000	D	0.82953	0.5149	L	0.44542	1.39	0.50632	D	0.999883	P;D	0.71674	0.93;0.998	B;D	0.72075	0.337;0.976	D	0.84743	0.0752	10	0.72032	D	0.01	-42.2467	13.5804	0.61898	0.0:0.8728:0.0:0.1272	.	449;482	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	482;482;449	ENSP00000379069:R482H;ENSP00000352738:R482H;ENSP00000350518:R449H	ENSP00000350518:R449H	R	-	2	0	G3BP2	76789642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.165000	0.77544	1.630000	0.50440	0.655000	0.94253	CGC		0.502	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	
G3BP2	9908	broad.mit.edu	37	4	76572294	76572294	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76572294G>A	ENST00000359707.4	-	10	1761	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R326C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R293C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	326					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.R326C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTGGATAGCGAATTATTCTA	0.333																																					p.R293C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C877T	4						.						108.0	107.0	108.0					4																	76572294		2203	4299	6502	76791318	SO:0001583	missense	9908	exon9			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.976C>T	4.37:g.76572294G>A	ENSP00000352738:p.Arg326Cys		76791318	NM_203504	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879965	0.91740	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.79352	-1.26;-1.26;-1.24	6.04	5.2	0.72013	.	0.045801	0.85682	N	0.000000	D	0.87051	0.6081	M	0.71206	2.165	0.80722	D	1	B;D	0.89917	0.025;1.0	B;D	0.78314	0.007;0.991	D	0.88345	0.2977	10	0.66056	D	0.02	.	15.4346	0.75137	0.0663:0.0:0.9337:0.0	.	293;326	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	326;326;293	ENSP00000379069:R326C;ENSP00000352738:R326C;ENSP00000350518:R293C	ENSP00000350518:R293C	R	-	1	0	G3BP2	76791318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.509000	0.81698	1.571000	0.49722	0.561000	0.74099	CGC		0.333	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	
USO1	8615	broad.mit.edu	37	4	76721933	76721933	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76721933G>A	ENST00000538159.1	+	17	1872	c.1872G>A	c.(1870-1872)aaG>aaA	p.K624K	USO1_ENST00000514213.2_Silent_p.K600K			O60763	USO1_HUMAN	USO1 vesicle transport factor	615	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.K624K(1)|p.K543K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTTTACGAAGCTGGTAAAAG	0.333																																					p.S565N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1694A	4						.						61.0	56.0	57.0					4																	76721933		1807	4072	5879	76940957	SO:0001819	synonymous_variant	8615	exon14			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1872G>A	4.37:g.76721933G>A			76940957	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Silent	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	G	6.907	0.536979	0.13188	.	.	ENSG00000138768	ENST00000441296	.	.	.	5.69	2.06	0.26882	.	.	.	.	.	T	0.58177	0.2104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	.	9.369	0.38241	0.409:0.0:0.591:0.0	.	.	.	.	N	291	.	.	S	+	2	0	USO1	76940957	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.250000	0.32850	0.069000	0.16605	0.455000	0.32223	AGC		0.333	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
PPEF2	5470	broad.mit.edu	37	4	76788478	76788478	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76788478C>T	ENST00000286719.7	-	14	2100	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	582	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.A582T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTTTATCTGCATCATGCTTC	0.408																																					p.A582T	NSCLC(105;1359 1603 15961 44567 47947)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1744A	4						.						56.0	58.0	58.0					4																	76788478		2203	4300	6503	77007502	SO:0001583	missense	5470	exon14			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1744G>A	4.37:g.76788478C>T	ENSP00000286719:p.Ala582Thr		77007502	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675520	0.14841	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.40225	1.04	6.04	-2.6	0.06190	EF-hand-like domain (1);	1.221100	0.05736	N	0.600467	T	0.20129	0.0484	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.22277	-1.0221	10	0.11485	T	0.65	-5.2883	7.1762	0.25747	0.0:0.3409:0.2489:0.4102	.	582;582	O14830-2;O14830	.;PPE2_HUMAN	T	582	ENSP00000286719:A582T	ENSP00000286719:A582T	A	-	1	0	PPEF2	77007502	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.356000	0.07661	-0.455000	0.07054	0.561000	0.74099	GCA		0.408	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
CXCL9	4283	broad.mit.edu	37	4	76924789	76924789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76924789G>A	ENST00000264888.5	-	4	378	c.340C>T	c.(340-342)Cga>Tga	p.R114*	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)	p.R114*(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGAGATTTTCGAACTTTCAGA	0.338																																					p.R114X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C340T	4						.						184.0	173.0	177.0					4																	76924789		2202	4298	6500	77143813	SO:0001587	stop_gained	4283	exon4			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.340C>T	4.37:g.76924789G>A	ENSP00000354901:p.Arg114*		77143813	NM_002416	Q503B4	Nonsense_Mutation	SNP	ENST00000264888.5	37	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222812	0.39300	.	.	ENSG00000138755	ENST00000264888	.	.	.	5.33	1.5	0.22942	.	14.147600	0.00166	N	0.000000	.	.	.	.	.	.	0.26429	N	0.975966	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	0.4425	6.0854	0.19964	0.0:0.0817:0.3148:0.6035	.	.	.	.	X	114	.	ENSP00000354901:R114X	R	-	1	2	CXCL9	77143813	0.013000	0.17824	0.004000	0.12327	0.003000	0.03518	0.426000	0.21363	0.184000	0.20083	-1.215000	0.01618	CGA		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1		
CXCL10	3627	broad.mit.edu	37	4	76943522	76943522	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76943522T>A	ENST00000306602.1	-	3	340	c.275A>T	c.(274-276)gAa>gTa	p.E92V	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	92					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.E92V(1)		kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACCTACCTTTCCTTGCTAAC	0.418																																					p.E92V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275T	4						.						134.0	124.0	127.0					4																	76943522		1903	4122	6025	77162546	SO:0001583	missense	3627	exon3			X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.275A>T	4.37:g.76943522T>A	ENSP00000305651:p.Glu92Val		77162546	NM_001565	Q96QJ5	Missense_Mutation	SNP	ENST00000306602.1	37	CCDS43240.1	.	.	.	.	.	.	.	.	.	.	T	5.844	0.339986	0.11069	.	.	ENSG00000169245	ENST00000306602	T	0.23552	1.9	4.88	0.984	0.19773	Chemokine interleukin-8-like domain (1);	1.066010	0.07242	N	0.864386	T	0.17408	0.0418	.	.	.	0.23243	N	0.998052	B	0.20671	0.047	B	0.14023	0.01	T	0.32981	-0.9886	9	0.72032	D	0.01	.	3.3809	0.07254	0.168:0.1857:0.0:0.6463	.	92	P02778	CXL10_HUMAN	V	92	ENSP00000305651:E92V	ENSP00000305651:E92V	E	-	2	0	CXCL10	77162546	0.552000	0.26505	0.223000	0.23860	0.001000	0.01503	0.534000	0.23098	0.094000	0.17404	-0.301000	0.09380	GAA		0.418	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1		
CXCL11	6373	broad.mit.edu	37	4	76956390	76956390	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:76956390T>C	ENST00000503860.1	-	3	545	c.167A>G	c.(166-168)aAc>aGc	p.N56S	CXCL11_ENST00000306621.3_Missense_Mutation_p.N56S|ART3_ENST00000341029.5_Intron			O14625	CXL11_HUMAN	chemokine (C-X-C motif) ligand 11	56					cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)	p.N56S(1)		kidney(1)|large_intestine(3)|lung(1)|skin(1)	6			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTGTCACAGTTGTTACTTGG	0.393																																					p.N56S	Pancreas(31;57 931 1690 18027 37686)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A167G	4						.						141.0	138.0	139.0					4																	76956390		2203	4300	6503	77175414	SO:0001583	missense	6373	exon2			U66096	CCDS3574.1	4q21	2013-02-25	2002-08-22	2002-08-23	ENSG00000169248	ENSG00000169248		"""Endogenous ligands"""	10638	protein-coding gene	gene with protein product		604852	"""small inducible cytokine subfamily B (Cys-X-Cys), member 11"""	SCYB9B, SCYB11		9730616	Standard	NM_005409		Approved	H174, b-R1, I-TAC, IP-9	uc003hjm.3	O14625	OTTHUMG00000130101	ENST00000503860.1:c.167A>G	4.37:g.76956390T>C	ENSP00000425819:p.Asn56Ser		77175414	NM_005409	Q53YA3|Q92840	Missense_Mutation	SNP	ENST00000503860.1	37	CCDS3574.1	.	.	.	.	.	.	.	.	.	.	T	1.567	-0.535040	0.04082	.	.	ENSG00000169248	ENST00000306621;ENST00000503860	T;T	0.04234	3.67;3.67	5.24	1.7	0.24286	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.429029	0.21687	N	0.070632	T	0.01835	0.0058	.	.	.	0.25548	N	0.987115	B	0.12013	0.005	B	0.15484	0.013	T	0.46816	-0.9164	9	0.07325	T	0.83	-10.1916	2.9472	0.05849	0.0:0.3764:0.2666:0.357	.	56	O14625	CXL11_HUMAN	S	56	ENSP00000306884:N56S;ENSP00000425819:N56S	ENSP00000306884:N56S	N	-	2	0	CXCL11	77175414	0.405000	0.25336	1.000000	0.80357	0.986000	0.74619	-0.014000	0.12656	1.028000	0.39785	0.377000	0.23210	AAC		0.393	CXCL11-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362816.1		
NUP54	53371	broad.mit.edu	37	4	77036569	77036569	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77036569C>T	ENST00000264883.3	-	12	1614	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	NUP54_ENST00000342467.6_Missense_Mutation_p.E276K|NUP54_ENST00000458189.2_Missense_Mutation_p.E312K|NUP54_ENST00000514987.1_Missense_Mutation_p.E444K	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.E492K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCATGTTCGACCAGCTTT	0.368																																					p.E492K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1474A	4						.						165.0	148.0	153.0					4																	77036569		2203	4300	6503	77255593	SO:0001583	missense	53371	exon12			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1474G>A	4.37:g.77036569C>T	ENSP00000264883:p.Glu492Lys		77255593	NM_017426	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996194	0.74703	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.982;0.99	T	0.64711	-0.6343	9	0.13108	T	0.6	-30.6642	20.5792	0.99380	0.0:1.0:0.0:0.0	.	444;276;492	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	K	492;276;444;312	.	ENSP00000264883:E492K	E	-	1	0	NUP54	77255593	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	7.431000	0.80335	2.873000	0.98535	0.561000	0.74099	GAA		0.368	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3		
NUP54	53371	broad.mit.edu	37	4	77045893	77045893	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77045893A>C	ENST00000264883.3	-	9	1213	c.1073T>G	c.(1072-1074)aTt>aGt	p.I358S	NUP54_ENST00000342467.6_Intron|NUP54_ENST00000458189.2_Missense_Mutation_p.I178S|NUP54_ENST00000514987.1_Missense_Mutation_p.I310S	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	358	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.I358S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TAGCTCACTAATATCTTCAGA	0.333																																					p.I358S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1073G	4						.						102.0	98.0	100.0					4																	77045893		2202	4298	6500	77264917	SO:0001583	missense	53371	exon9			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1073T>G	4.37:g.77045893A>C	ENSP00000264883:p.Ile358Ser		77264917	NM_017426	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500409	0.85176	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000458189	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.70716	0.97;0.807	T	0.79014	-0.1976	9	0.46703	T	0.11	-22.6155	16.3979	0.83621	1.0:0.0:0.0:0.0	.	310;358	B4DT35;Q7Z3B4	.;NUP54_HUMAN	S	358;310;178	.	ENSP00000264883:I358S	I	-	2	0	NUP54	77264917	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.893000	0.92498	2.279000	0.76181	0.459000	0.35465	ATT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3		
SCARB2	950	broad.mit.edu	37	4	77082873	77082873	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77082873C>T	ENST00000264896.2	-	12	1779	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	SCARB2_ENST00000452464.2_Missense_Mutation_p.R334Q	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	477					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.R477Q(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGTTTAGGTTCGAATGAGGGG	0.483																																					p.R477Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430A	4						.						190.0	164.0	173.0					4																	77082873		2203	4300	6503	77301897	SO:0001583	missense	950	exon12			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1430G>A	4.37:g.77082873C>T	ENSP00000264896:p.Arg477Gln		77301897	NM_005506	B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277240	0.95459	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.91068	-0.38;-2.78	5.23	5.23	0.72850	.	0.318910	0.32134	N	0.006525	D	0.90913	0.7144	L	0.32530	0.975	0.38274	D	0.942237	D;D	0.76494	0.998;0.999	P;P	0.59115	0.623;0.852	D	0.91958	0.5576	10	0.51188	T	0.08	.	14.6832	0.69033	0.0:1.0:0.0:0.0	.	334;477	E7EM68;Q14108	.;SCRB2_HUMAN	Q	477;334	ENSP00000264896:R477Q;ENSP00000399154:R334Q	ENSP00000264896:R477Q	R	-	2	0	SCARB2	77301897	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.709000	0.54853	2.596000	0.87737	0.655000	0.94253	CGA		0.483	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	
CCDC158	339965	broad.mit.edu	37	4	77288740	77288740	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77288740C>T	ENST00000388914.3	-	11	1689	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	513								p.E513K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGGTAGCCTCGATGGCTCTC	0.473																																					p.E513K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1537A	4						.						99.0	92.0	94.0					4																	77288740		1881	4115	5996	77507764	SO:0001583	missense	339965	exon11			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1537G>A	4.37:g.77288740C>T	ENSP00000373566:p.Glu513Lys		77507764	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510307	0.85282	.	.	ENSG00000163749	ENST00000388914	T	0.81163	-1.46	5.95	5.95	0.96441	.	0.000000	0.56097	D	0.000023	D	0.82751	0.5105	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.80549	-0.1333	10	0.28530	T	0.3	.	18.1671	0.89732	0.0:1.0:0.0:0.0	.	513	Q5M9N0	CD158_HUMAN	K	513	ENSP00000373566:E513K	ENSP00000373566:E513K	E	-	1	0	CCDC158	77507764	0.993000	0.37304	0.991000	0.47740	0.720000	0.41350	3.569000	0.53827	2.826000	0.97356	0.563000	0.77884	GAG		0.473	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
SOWAHB	345079	broad.mit.edu	37	4	77817856	77817856	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77817856G>A	ENST00000334306.2	-	1	1146	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	383								p.R383C(1)									CGAATGCTGCGAAAGACAGTC	0.567																																					p.R383C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	4						.						72.0	77.0	75.0					4																	77817856		2203	4300	6503	78036880	SO:0001583	missense	345079	exon1				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1147C>T	4.37:g.77817856G>A	ENSP00000334879:p.Arg383Cys		78036880	NM_001029870	B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236205	0.39498	.	.	ENSG00000186212	ENST00000334306	T	0.10192	2.9	4.41	4.41	0.53225	.	0.000000	0.35838	U	0.002952	T	0.19446	0.0467	L	0.29908	0.895	0.41153	D	0.986044	D	0.89917	1.0	D	0.71184	0.972	T	0.00986	-1.1490	10	0.87932	D	0	-4.5524	11.2228	0.48866	0.0:0.0:0.8166:0.1834	.	383	A6NEL2	ANR56_HUMAN	C	383	ENSP00000334879:R383C	ENSP00000334879:R383C	R	-	1	0	ANKRD56	78036880	0.995000	0.38212	0.954000	0.39281	0.053000	0.15095	1.597000	0.36729	2.281000	0.76405	0.655000	0.94253	CGC		0.567	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870	
CCNI	10983	broad.mit.edu	37	4	77976425	77976425	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77976425C>T	ENST00000237654.4	-	6	1144	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	CCNI_ENST00000537948.1_Missense_Mutation_p.A176T|CCNI_ENST00000504697.1_5'Flank	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	190					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)			p.A190T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TGGTTGCAGGCCATACAGTGA	0.448																																					p.A190T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568A	4						.						130.0	113.0	119.0					4																	77976425		2203	4300	6503	78195449	SO:0001583	missense	10983	exon6			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.568G>A	4.37:g.77976425C>T	ENSP00000237654:p.Ala190Thr		78195449	NM_006835	B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080318	0.76528	.	.	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.15834	2.4;2.39	5.86	5.01	0.66863	Cyclin-like (1);	0.237030	0.49916	D	0.000128	T	0.17916	0.0430	L	0.45352	1.415	0.80722	D	1	B;B	0.18741	0.03;0.009	B;B	0.23574	0.037;0.047	T	0.01767	-1.1278	10	0.46703	T	0.11	-0.4085	14.774	0.69703	0.0:0.931:0.0:0.069	.	176;190	B7Z6X4;Q14094	.;CCNI_HUMAN	T	190;176	ENSP00000237654:A190T;ENSP00000441001:A176T	ENSP00000237654:A190T	A	-	1	0	CCNI	78195449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.503000	0.60407	2.937000	0.99478	0.650000	0.86243	GCC		0.448	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835	
CCNI	10983	broad.mit.edu	37	4	77977254	77977254	+	Splice_Site	SNP	C	C	A	rs143512120		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:77977254C>A	ENST00000237654.4	-	5	896	c.320G>T	c.(319-321)aGa>aTa	p.R107I	CCNI_ENST00000537948.1_Splice_Site_p.R93I|CCNI_ENST00000504697.1_5'UTR	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	107					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)			p.R107I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TACTGGAATTCTCTATCCAAA	0.363																																					p.R107I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320T	4						.						74.0	76.0	75.0					4																	77977254		2203	4300	6503	78196278	SO:0001630	splice_region_variant	10983	exon5			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.319-1G>T	4.37:g.77977254C>A			78196278	NM_006835	B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254246	0.59212	.	.	ENSG00000118816	ENST00000237654;ENST00000537948;ENST00000505609	T;T;T	0.12569	2.67;2.67;2.67	6.16	5.28	0.74379	Cyclin, N-terminal (1);Cyclin-like (3);	0.091065	0.85682	D	0.000000	T	0.15305	0.0369	L	0.59436	1.845	0.80722	D	1	B;B	0.16603	0.018;0.0	B;B	0.19666	0.026;0.012	T	0.04579	-1.0941	10	0.22109	T	0.4	-0.6919	11.731	0.51737	0.0:0.9095:0.0:0.0905	.	93;107	B7Z6X4;Q14094	.;CCNI_HUMAN	I	107;93;107	ENSP00000237654:R107I;ENSP00000441001:R93I;ENSP00000426467:R107I	ENSP00000237654:R107I	R	-	2	0	CCNI	78196278	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.550000	0.53691	1.491000	0.48482	0.650000	0.86243	AGA		0.363	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835	Missense_Mutation
MRPL1	65008	broad.mit.edu	37	4	78804460	78804460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:78804460G>T	ENST00000315567.8	+	3	537	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	70					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E70*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AGATGAAATAGAAAAAATAAA	0.318																																					p.E70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G208T	4						.						55.0	57.0	57.0					4																	78804460		2203	4300	6503	79023484	SO:0001587	stop_gained	65008	exon3			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.208G>T	4.37:g.78804460G>T	ENSP00000315017:p.Glu70*		79023484	NM_020236	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Nonsense_Mutation	SNP	ENST00000315567.8	37	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996514|2.996514	0.54147|0.54147	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000502384	.|.	.|.	.|.	6.14|6.14	5.25|5.25	0.73442|0.73442	.|.	0.374712|.	0.29948|.	N|.	0.010782|.	.|T	.|0.53514	.|0.1801	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60989	.|-0.7153	.|3	0.17832|.	T|.	0.49|.	-27.5702|-27.5702	9.9516|9.9516	0.41642|0.41642	0.0746:0.1417:0.7837:0.0|0.0746:0.1417:0.7837:0.0	.|.	.|.	.|.	.|.	X|I	70;48|23	.|.	ENSP00000315017:E70X|.	E|R	+|+	1|2	0|0	MRPL1|MRPL1	79023484|79023484	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.307000|0.307000	0.27823|0.27823	2.305000|2.305000	0.43664|0.43664	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.318	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	
MRPL1	65008	broad.mit.edu	37	4	78804575	78804575	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:78804575A>C	ENST00000315567.8	+	3	652	c.323A>C	c.(322-324)aAa>aCa	p.K108T	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	108					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K108T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TTACTTAAGAAATTTCAAATT	0.368																																					p.K108T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A323C	4						.						89.0	89.0	89.0					4																	78804575		2203	4299	6502	79023599	SO:0001583	missense	65008	exon3			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.323A>C	4.37:g.78804575A>C	ENSP00000315017:p.Lys108Thr		79023599	NM_020236	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.79|13.79	2.342436|2.342436	0.41498|0.41498	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000502384|ENST00000315567;ENST00000538314	.|T	.|0.51574	.|0.7	6.04|6.04	4.85|4.85	0.62838|0.62838	.|Ribosomal protein L1, chordata (1);Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	.|0.329171	.|0.39020	.|N	.|0.001481	T|T	0.43188|0.43188	0.1236|0.1236	L|L	0.52266|0.52266	1.64|1.64	0.39358|0.39358	D|D	0.965875|0.965875	.|P;P	.|0.44776	.|0.727;0.843	.|B;P	.|0.44772	.|0.314;0.46	T|T	0.40289|0.40289	-0.9571|-0.9571	5|10	.|0.38643	.|T	.|0.18	-22.1707|-22.1707	7.5974|7.5974	0.28056|0.28056	0.7864:0.1403:0.0733:0.0|0.7864:0.1403:0.0733:0.0	.|.	.|86;108	.|A0PJ79;Q9BYD6	.|.;RM01_HUMAN	D|T	61|108;86	.|ENSP00000315017:K108T	.|ENSP00000315017:K108T	E|K	+|+	3|2	2|0	MRPL1|MRPL1	79023599|79023599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	2.189000|2.189000	0.42621|0.42621	2.330000|2.330000	0.79161|0.79161	0.529000|0.529000	0.55759|0.55759	GAA|AAA		0.368	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	
FRAS1	80144	broad.mit.edu	37	4	79285132	79285132	+	Silent	SNP	C	C	T	rs535942655	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79285132C>T	ENST00000325942.6	+	22	3086	c.2646C>T	c.(2644-2646)ctC>ctT	p.L882L	FRAS1_ENST00000264895.6_Silent_p.L882L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	882					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.002				p.L882L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2646T	4						.						72.0	76.0	75.0					4																	79285132		2096	4230	6326	79504156	SO:0001819	synonymous_variant	80144	exon22			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2646C>T	4.37:g.79285132C>T			79504156	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	CCDS54772.1																																																																																				0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
FRAS1	80144	broad.mit.edu	37	4	79367963	79367963	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79367963C>A	ENST00000264895.6	+	43	6379	c.5939C>A	c.(5938-5940)tCt>tAt	p.S1980Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1980					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.S1980Y(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAATTCTTCTTTGAGCCTG	0.483																																					p.S1980Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5939A	4						.						67.0	69.0	69.0					4																	79367963		1970	4172	6142	79586987	SO:0001583	missense	80144	exon43			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5939C>A	4.37:g.79367963C>A	ENSP00000264895:p.Ser1980Tyr		79586987	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.41|11.41	1.630952|1.630952	0.28978|0.28978	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.29397	.|1.57	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.058939	.|0.64402	.|D	.|0.000001	T|T	0.51500|0.51500	0.1678|0.1678	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.69142	.|0.962	T|T	0.39418|0.39418	-0.9615|-0.9615	5|10	.|0.30854	.|T	.|0.27	.|.	15.0802|15.0802	0.72108|0.72108	0.0:0.8587:0.1413:0.0|0.0:0.8587:0.1413:0.0	.|.	.|1980	.|E9PHH6	.|.	L|Y	208|1980	.|ENSP00000264895:S1980Y	.|ENSP00000264895:S1980Y	F|S	+|+	3|2	2|0	FRAS1|FRAS1	79586987|79586987	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.117000|0.117000	0.20001|0.20001	4.691000|4.691000	0.61738|0.61738	2.639000|2.639000	0.89480|0.89480	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.483	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79387385	79387385	+	Silent	SNP	C	C	T	rs187011600	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79387385C>T	ENST00000264895.6	+	50	7493	c.7053C>T	c.(7051-7053)atC>atT	p.I2351I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2351					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.I2351I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATTCACCATCGTGCAGCCTC	0.537													C|||	4	0.000798722	0.003	0.0	5008	,	,		20518	0.0		0.0	False		,,,				2504	0.0				p.I2351I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7053T	4						.	C		10,4288		0,10,2139	79.0	78.0	78.0		7053	-11.7	0.1	4		78	0,8538		0,0,4269	no	coding-synonymous	FRAS1	NM_025074.6		0,10,6408	TT,TC,CC		0.0,0.2327,0.0779		2351/4013	79387385	10,12826	2149	4269	6418	79606409	SO:0001819	synonymous_variant	80144	exon50			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7053C>T	4.37:g.79387385C>T			79606409	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.017	0.983987	0.18889	0.002327	0.0	ENSG00000138759	ENST00000512123	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.45677	0.1354	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58736	-0.7584	4	.	.	.	.	8.9439	0.35747	0.1519:0.5431:0.1284:0.1766	.	.	.	.	C	580	.	.	R	+	1	0	FRAS1	79606409	0.000000	0.05858	0.067000	0.19924	0.935000	0.57460	-3.950000	0.00327	-2.603000	0.00450	-0.237000	0.12165	CGT		0.537	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79429941	79429941	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79429941G>T	ENST00000264895.6	+	63	10001	c.9561G>T	c.(9559-9561)aaG>aaT	p.K3187N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3183					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.K3187N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGAGTCAAGAAATCCCCCT	0.547																																					p.K3187N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9561T	4						.						47.0	51.0	50.0					4																	79429941		1982	4184	6166	79648965	SO:0001583	missense	80144	exon63			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9561G>T	4.37:g.79429941G>T	ENSP00000264895:p.Lys3187Asn		79648965	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.195398|3.195398	0.58126|0.58126	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.78481	.|-1.18	5.62|5.62	2.94|2.94	0.34122|0.34122	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.78233	.|0.4251	L|L	0.35487|0.35487	1.065|1.065	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63046	.|0.992;0.969	.|P;P	.|0.61397	.|0.888;0.711	.|T	.|0.76594	.|-0.2902	.|10	.|0.46703	.|T	.|0.11	.|.	11.0874|11.0874	0.48095|0.48095	0.2049:0.0:0.7951:0.0|0.2049:0.0:0.7951:0.0	.|.	.|3186;3187	.|Q86XX4-2;E9PHH6	.|.;.	X|N	1416|3187	.|ENSP00000264895:K3187N	.|ENSP00000264895:K3187N	E|K	+|+	1|3	0|2	FRAS1|FRAS1	79648965|79648965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.772000|0.772000	0.43724|0.43724	3.394000|3.394000	0.52551|0.52551	0.729000|0.729000	0.32403|0.32403	0.585000|0.585000	0.79938|0.79938	GAA|AAG		0.547	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FRAS1	80144	broad.mit.edu	37	4	79442733	79442733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79442733C>T	ENST00000264895.6	+	68	11037	c.10597C>T	c.(10597-10599)Cga>Tga	p.R3533*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3529					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.R3533*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AATCTACATTCGAGAGGATGG	0.403																																					p.R3533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C10597T	4						.						96.0	92.0	93.0					4																	79442733		1875	4113	5988	79661757	SO:0001587	stop_gained	80144	exon68			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10597C>T	4.37:g.79442733C>T	ENSP00000264895:p.Arg3533*		79661757	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.513810|11.513810	0.99570|0.99570	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.66|5.66	3.86|3.86	0.44501|0.44501	.|.	0.066329|.	0.64402|.	D|.	0.000020|.	.|T	.|0.69611	.|0.3130	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67364	.|-0.5689	.|4	0.02654|.	T|.	1|.	.|.	14.5428|14.5428	0.68008|0.68008	0.2754:0.7245:0.0:0.0|0.2754:0.7245:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3533|1761	.|.	ENSP00000264895:R3533X|.	R|S	+|+	1|2	2|0	FRAS1|FRAS1	79661757|79661757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.146000|3.146000	0.50631|0.50631	0.676000|0.676000	0.31285|0.31285	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.403	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
BMP2K	55589	broad.mit.edu	37	4	79772086	79772086	+	Silent	SNP	A	A	G	rs368941274		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79772086A>G	ENST00000335016.5	+	7	925	c.759A>G	c.(757-759)ggA>ggG	p.G253G	BMP2K_ENST00000502871.1_Silent_p.G253G	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.G253G(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGGCACTGGGATGTCTACTCT	0.368																																					p.G253G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A759G	4						.						135.0	121.0	126.0					4																	79772086		2203	4300	6503	79991110	SO:0001819	synonymous_variant	55589	exon7			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.759A>G	4.37:g.79772086A>G			79991110	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1																																																																																				0.368	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
BMP2K	55589	broad.mit.edu	37	4	79782575	79782575	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79782575G>A	ENST00000335016.5	+	9	1186	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	BMP2K_ENST00000502871.1_Silent_p.P340P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	340					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.P340P(1)|p.R355Q(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TTCCTGAACCGATGACTGCTA	0.333																																					p.P340P												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1020A	4						.						58.0	57.0	57.0					4																	79782575		2202	4300	6502	80001599	SO:0001819	synonymous_variant	55589	exon9			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1020G>A	4.37:g.79782575G>A			80001599	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.33|13.33	2.205713|2.205713	0.39003|0.39003	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000264889|ENST00000502613	.|.	.|.	.|.	5.82|5.82	0.454|0.454	0.16644|0.16644	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44307	.|0.1287	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.25152	.|-1.0140	.|4	.|.	.|.	.|.	.|-11.3717	3.8557|3.8557	0.08974|0.08974	0.1458:0.4706:0.2026:0.181|0.1458:0.4706:0.2026:0.181	.|.	.|.	.|.	.|.	.|N	-1|33	.|.	.|.	.|D	+|+	.|1	.|0	BMP2K|BMP2K	80001599|80001599	0.017000|0.017000	0.18338|0.18338	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-1.088000|-1.088000	0.03379|0.03379	0.331000|0.331000	0.23511|0.23511	0.563000|0.563000	0.77884|0.77884	.|GAT		0.333	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
BMP2K	55589	broad.mit.edu	37	4	79833143	79833143	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79833143G>A	ENST00000335016.5	+	16	3608	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	PAQR3_ENST00000515541.1_5'Flank|PAQR3_ENST00000295462.3_Intron|PAQR3_ENST00000512733.1_3'UTR	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1148					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.E1148K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CCAACCAGTCGAATTAGACCC	0.428																																					p.E1148K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3442A	4						.						178.0	172.0	174.0					4																	79833143		1947	4126	6073	80052167	SO:0001583	missense	55589	exon16			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.3442G>A	4.37:g.79833143G>A	ENSP00000334836:p.Glu1148Lys		80052167	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.71|12.71	2.018576|2.018576	0.35606|0.35606	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000335016|ENST00000502613	T|.	0.48201|.	0.82|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	1.478860|.	0.04250|.	N|.	0.338479|.	T|T	0.75102|0.75102	0.3804|0.3804	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.63192|.	0.912|.	T|T	0.72978|0.72978	-0.4127|-0.4127	10|5	0.56958|.	D|.	0.05|.	-20.4913|-20.4913	19.4202|19.4202	0.94719|0.94719	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1148|.	Q9NSY1|.	BMP2K_HUMAN|.	K|Q	1148|840	ENSP00000334836:E1148K|.	ENSP00000334836:E1148K|.	E|R	+|+	1|2	0|0	BMP2K|BMP2K	80052167|80052167	1.000000|1.000000	0.71417|0.71417	0.359000|0.359000	0.25824|0.25824	0.006000|0.006000	0.05464|0.05464	9.005000|9.005000	0.93587|0.93587	2.586000|2.586000	0.87340|0.87340	0.557000|0.557000	0.71058|0.71058	GAA|CGA		0.428	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
PAQR3	152559	broad.mit.edu	37	4	79841722	79841722	+	Missense_Mutation	SNP	G	G	A	rs370446003		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:79841722G>A	ENST00000512733.1	-	6	1120	c.907C>T	c.(907-909)Cct>Tct	p.P303S	PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	303	Golgi targeting.				negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P303S(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCAGGACAAGGCTTGCTATGT	0.408																																					p.P303S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C907T	4						.	G	SER/PRO	0,4406		0,0,2203	212.0	177.0	189.0		907	5.1	1.0	4		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	PAQR3	NM_001040202.1	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	303/312	79841722	1,13005	2203	4300	6503	80060746	SO:0001583	missense	152559	exon6			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.907C>T	4.37:g.79841722G>A	ENSP00000421981:p.Pro303Ser		80060746	NM_001040202	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	7.833	0.720355	0.15372	0.0	1.16E-4	ENSG00000163291	ENST00000512733	T	0.20738	2.05	5.97	5.13	0.70059	.	0.097264	0.64402	D	0.000001	T	0.15652	0.0377	N	0.25094	0.71	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.04737	-1.0930	10	0.24483	T	0.36	-6.1229	15.1078	0.72334	0.0676:0.0:0.9324:0.0	.	303	Q6TCH7	PAQR3_HUMAN	S	303	ENSP00000421981:P303S	ENSP00000425080:P303S	P	-	1	0	PAQR3	80060746	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	6.722000	0.74735	1.541000	0.49316	0.650000	0.86243	CCT		0.408	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
NAA11	84779	broad.mit.edu	37	4	80246415	80246415	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:80246415C>T	ENST00000286794.4	-	1	789	c.617G>A	c.(616-618)aGc>aAc	p.S206N	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	206					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.S206N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGGTTCTTTGCTGTCACTGCC	0.537																																					p.S206N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G617A	4						.						58.0	61.0	60.0					4																	80246415		2067	4214	6281	80465439	SO:0001583	missense	84779	exon1				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.617G>A	4.37:g.80246415C>T	ENSP00000286794:p.Ser206Asn		80465439	NM_032693	Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554829	0.27739	.	.	ENSG00000156269	ENST00000286794	T	0.56941	0.43	4.73	2.03	0.26663	.	0.183256	0.49916	U	0.000134	T	0.32645	0.0836	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.10706	-1.0618	10	0.22109	T	0.4	-4.2518	1.6151	0.02701	0.1485:0.4528:0.2034:0.1953	.	206	Q9BSU3	NAA11_HUMAN	N	206	ENSP00000286794:S206N	ENSP00000286794:S206N	S	-	2	0	NAA11	80465439	0.923000	0.31300	0.030000	0.17652	0.019000	0.09904	0.309000	0.19332	0.293000	0.22520	0.561000	0.74099	AGC		0.537	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1		
GK2	2712	broad.mit.edu	37	4	80328318	80328318	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:80328318T>G	ENST00000358842.3	-	1	1054	c.1037A>C	c.(1036-1038)gAa>gCa	p.E346A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.E346A(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCAAGTCTTTCAATGTCTCC	0.433																																					p.E346A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1037C	4						.						121.0	115.0	117.0					4																	80328318		2203	4300	6503	80547342	SO:0001583	missense	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1037A>C	4.37:g.80328318T>G	ENSP00000351706:p.Glu346Ala		80547342	NM_033214	Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247193	0.39697	.	.	ENSG00000196475	ENST00000358842	D	0.91068	-2.78	4.04	4.04	0.47022	Carbohydrate kinase, FGGY, C-terminal (1);	0.050169	0.85682	D	0.000000	D	0.94545	0.8243	M	0.81239	2.535	0.80722	D	1	D	0.64830	0.994	D	0.73380	0.98	D	0.94845	0.8008	10	0.87932	D	0	-2.1704	11.5957	0.50972	0.0:0.0:0.0:1.0	.	346	Q14410	GLPK2_HUMAN	A	346	ENSP00000351706:E346A	ENSP00000351706:E346A	E	-	2	0	GK2	80547342	1.000000	0.71417	0.713000	0.30519	0.210000	0.24377	3.837000	0.55820	2.068000	0.61886	0.477000	0.44152	GAA		0.433	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
FGF5	2250	broad.mit.edu	37	4	81188189	81188189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:81188189G>T	ENST00000312465.7	+	1	437	c.211G>T	c.(211-213)Gga>Tga	p.G71*	FGF5_ENST00000456523.3_Nonsense_Mutation_p.G71*	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	71					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.G71*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGGCAGCCAAGGAAGTGGCTT	0.607																																					p.G71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G211T	4						.						62.0	67.0	65.0					4																	81188189		2203	4300	6503	81407213	SO:0001587	stop_gained	2250	exon1			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.211G>T	4.37:g.81188189G>T	ENSP00000311697:p.Gly71*		81407213	NM_033143	B2R554|O75846|Q3Y8M3|Q8NF90	Nonsense_Mutation	SNP	ENST00000312465.7	37	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428207	0.96131	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	.	.	.	5.41	5.41	0.78517	.	2.681430	0.02070	N	0.051474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.1652	0.86814	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000311697:G71X	G	+	1	0	FGF5	81407213	1.000000	0.71417	0.048000	0.18961	0.741000	0.42261	5.549000	0.67261	2.816000	0.96949	0.561000	0.74099	GGA		0.607	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
C4orf22	255119	broad.mit.edu	37	4	81791188	81791188	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:81791188G>T	ENST00000358105.3	+	4	424	c.375G>T	c.(373-375)gaG>gaT	p.E125D	C4orf22_ENST00000508675.1_Missense_Mutation_p.E142D	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	125								p.E125D(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ATGGGCAAGAGATATCAGGAT	0.363																																					p.E125D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G375T	4						.						113.0	117.0	116.0					4																	81791188		2203	4300	6503	82010212	SO:0001583	missense	255119	exon4			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.375G>T	4.37:g.81791188G>T	ENSP00000350818:p.Glu125Asp		82010212	NM_152770	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162842	0.38217	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.38240	1.15;1.15	5.07	2.98	0.34508	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.73217	2.22	0.31488	N	0.66631	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58284	-0.7663	10	0.59425	D	0.04	-13.6276	7.0786	0.25219	0.3392:0.0:0.6608:0.0	.	142;125	E7EQ13;Q6V702	.;CD022_HUMAN	D	125;142	ENSP00000350818:E125D;ENSP00000425786:E142D	ENSP00000350818:E125D	E	+	3	2	C4orf22	82010212	0.992000	0.36948	0.992000	0.48379	0.073000	0.16967	1.759000	0.38420	0.324000	0.23333	0.585000	0.79938	GAG		0.363	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770	
BMP3	651	broad.mit.edu	37	4	81967314	81967314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:81967314G>T	ENST00000282701.2	+	2	1059	c.739G>T	c.(739-741)Gcc>Tcc	p.A247S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	247					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.A247S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGCCAATGATGCCGCCATTTC	0.478																																					p.A247S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G739T	4						.						100.0	101.0	101.0					4																	81967314		2203	4300	6503	82186338	SO:0001583	missense	651	exon2			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.739G>T	4.37:g.81967314G>T	ENSP00000282701:p.Ala247Ser		82186338	NM_001201	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	5.282	0.237396	0.10023	.	.	ENSG00000152785	ENST00000282701	T	0.72051	-0.62	5.08	3.23	0.37069	.	0.099034	0.64402	D	0.000001	T	0.41282	0.1152	N	0.04746	-0.17	0.32784	N	0.502024	B	0.17268	0.021	B	0.14023	0.01	T	0.41574	-0.9501	10	0.08599	T	0.76	.	6.7077	0.23260	0.0895:0.0:0.6047:0.3058	.	247	P12645	BMP3_HUMAN	S	247	ENSP00000282701:A247S	ENSP00000282701:A247S	A	+	1	0	BMP3	82186338	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.591000	0.61019	1.515000	0.48885	0.655000	0.94253	GCC		0.478	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
PRKG2	5593	broad.mit.edu	37	4	82088363	82088363	+	Missense_Mutation	SNP	C	C	A	rs144720151	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:82088363C>A	ENST00000395578.1	-	6	980	c.864G>T	c.(862-864)aaG>aaT	p.K288N	RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000264399.1_Missense_Mutation_p.K288N|PRKG2_ENST00000418486.2_Missense_Mutation_p.K288N			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	288					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.K288N(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAGGTAAATTCTTCAGCAAGG	0.259													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14246	0.0		0.001	False		,,,				2504	0.0				p.K288N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G864T	4						.						26.0	28.0	27.0					4																	82088363		2186	4273	6459	82307387	SO:0001583	missense	5593	exon5			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.864G>T	4.37:g.82088363C>A	ENSP00000378945:p.Lys288Asn		82307387	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	11.66	1.705631	0.30232	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.31247	1.5;1.5;1.5	5.87	5.03	0.67393	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.288863	0.38326	N	0.001728	T	0.43809	0.1264	M	0.74258	2.255	0.80722	D	1	P;B	0.48407	0.91;0.228	P;B	0.50352	0.638;0.133	T	0.39165	-0.9627	10	0.41790	T	0.15	-30.7822	11.9443	0.52920	0.0:0.8564:0.0:0.1436	.	288;288	E7EPE6;Q13237	.;KGP2_HUMAN	N	288	ENSP00000378945:K288N;ENSP00000264399:K288N;ENSP00000389038:K288N	ENSP00000264399:K288N	K	-	3	2	PRKG2	82307387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.555000	0.36277	1.487000	0.48415	0.591000	0.81541	AAG		0.259	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
PRKG2	5593	broad.mit.edu	37	4	82092947	82092947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:82092947C>A	ENST00000395578.1	-	4	756	c.640G>T	c.(640-642)Gag>Tag	p.E214*	RP11-100N20.1_ENST00000512502.1_RNA|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.E214*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.E214*|RP11-100N20.1_ENST00000505175.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	214					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.E214*(1)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGAACACCTCTAGTCGACCC	0.383																																					p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	4						.						81.0	84.0	83.0					4																	82092947		2203	4300	6503	82311971	SO:0001587	stop_gained	5593	exon3			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.640G>T	4.37:g.82092947C>A	ENSP00000378945:p.Glu214*		82311971	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	39	7.518362	0.98332	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	.	.	.	5.42	5.42	0.78866	.	0.165696	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-31.9307	19.1736	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	X	214	.	ENSP00000264399:E214X	E	-	1	0	PRKG2	82311971	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	7.109000	0.77062	2.711000	0.92665	0.655000	0.94253	GAG		0.383	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
RASGEF1B	153020	broad.mit.edu	37	4	82366972	82366972	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:82366972C>A	ENST00000264400.2	-	7	901	c.750G>T	c.(748-750)aaG>aaT	p.K250N	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.K249N|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K208N	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	250	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.K250N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTCGTGTTTTCTTCCGTTCAC	0.383																																					p.K250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	4						.						95.0	90.0	91.0					4																	82366972		2203	4300	6503	82585996	SO:0001583	missense	153020	exon7			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.750G>T	4.37:g.82366972C>A	ENSP00000264400:p.Lys250Asn		82585996	NM_152545	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.629123	0.46944	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.5	4.59	0.56863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.043609	0.85682	D	0.000000	T	0.38134	0.1029	M	0.70275	2.135	0.80722	D	1	B;B;B	0.22746	0.074;0.039;0.049	B;B;B	0.33254	0.085;0.099;0.16	T	0.16689	-1.0394	10	0.34782	T	0.22	.	14.5883	0.68344	0.0:0.9189:0.0:0.0811	.	208;249;250	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	N	249;250;208;95	ENSP00000425393:K249N;ENSP00000264400:K250N;ENSP00000338437:K208N;ENSP00000426929:K95N	ENSP00000264400:K250N	K	-	3	2	RASGEF1B	82585996	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	3.550000	0.53691	2.854000	0.98071	0.655000	0.94253	AAG		0.383	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	
ENOPH1	58478	broad.mit.edu	37	4	83369170	83369170	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83369170A>C	ENST00000273920.3	+	2	450	c.182A>C	c.(181-183)aAa>aCa	p.K61T	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1			enolase-phosphatase 1									p.K61T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CTTTTGAGGAAACAGGTTGGG	0.408																																					p.K61T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A182C	4						.						76.0	72.0	74.0					4																	83369170		2203	4300	6503	83588194	SO:0001583	missense	58478	exon2				CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.182A>C	4.37:g.83369170A>C	ENSP00000273920:p.Lys61Thr		83588194	NM_021204		Missense_Mutation	SNP	ENST00000273920.3	37	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	a	10.28	1.306908	0.23821	.	.	ENSG00000145293	ENST00000273920;ENST00000456931	T	0.05513	3.43	5.39	4.21	0.49690	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.088920	0.85682	D	0.000000	T	0.11324	0.0276	L	0.50333	1.59	0.80722	D	1	B	0.28419	0.211	B	0.42738	0.396	T	0.14783	-1.0460	10	0.22706	T	0.39	-14.8615	11.4494	0.50142	0.929:0.0:0.071:0.0	.	61	Q9UHY7	ENOPH_HUMAN	T	61	ENSP00000273920:K61T	ENSP00000273920:K61T	K	+	2	0	ENOPH1	83588194	1.000000	0.71417	0.998000	0.56505	0.085000	0.17905	6.962000	0.76048	1.001000	0.39076	0.524000	0.50904	AAA		0.408	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204	
SCD5	79966	broad.mit.edu	37	4	83602054	83602054	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83602054G>A	ENST00000319540.4	-	3	694	c.375C>T	c.(373-375)ttC>ttT	p.F125F	SCD5_ENST00000273908.4_Silent_p.F125F	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	125					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.F125F(4)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGGACCACTCGAAGATGTCAT	0.607																																					p.F125F												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.C375T	4						.						62.0	68.0	66.0					4																	83602054		2203	4300	6503	83821078	SO:0001819	synonymous_variant	79966	exon3			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.375C>T	4.37:g.83602054G>A			83821078	NM_001037582	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	37	CCDS34024.1																																																																																				0.607	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
SEC31A	22872	broad.mit.edu	37	4	83763306	83763306	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83763306C>T	ENST00000395310.2	-	22	3137	c.2955G>A	c.(2953-2955)gcG>gcA	p.A985A	SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000326950.5_Silent_p.A946A|SEC31A_ENST00000505984.1_Intron|SEC31A_ENST00000355196.2_Silent_p.A985A|SEC31A_ENST00000348405.4_Silent_p.A946A|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000432794.1_Silent_p.A985A|SEC31A_ENST00000505472.1_Silent_p.A1016A|SEC31A_ENST00000508502.1_Intron|SEC31A_ENST00000448323.1_Silent_p.A985A|SEC31A_ENST00000443462.2_Intron|SEC31A_ENST00000264405.5_Intron|SEC31A_ENST00000311785.7_Intron	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	985	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.A985A(1)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTTGGGACGCAGGCAGCT	0.522																																					p.A985A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2955A	4						.						52.0	53.0	52.0					4																	83763306		2203	4300	6503	83982330	SO:0001819	synonymous_variant	22872	exon22			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2955G>A	4.37:g.83763306C>T			83982330	NM_001077207	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954859	0.18431	.	.	ENSG00000138674	ENST00000503937	.	.	.	5.83	0.0621	0.14343	.	.	.	.	.	T	0.57740	0.2074	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51545	-0.8692	4	.	.	.	-12.089	10.3419	0.43884	0.0:0.2941:0.0:0.7059	.	.	.	.	H	135	.	.	R	-	2	0	SEC31A	83982330	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	1.164000	0.31810	-0.096000	0.12329	-0.251000	0.11542	CGT		0.522	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
THAP9	79725	broad.mit.edu	37	4	83826068	83826068	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83826068C>A	ENST00000302236.5	+	2	311	c.260C>A	c.(259-261)tCt>tAt	p.S87Y		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	87					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.S87Y(1)|p.S87C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTGTGCCTTCTGTTTCTCTA	0.353																																					p.S87Y												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C260A	4						.						65.0	67.0	66.0					4																	83826068		2203	4300	6503	84045092	SO:0001583	missense	79725	exon2			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.260C>A	4.37:g.83826068C>A	ENSP00000305533:p.Ser87Tyr		84045092	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326897	0.60743	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96685	-4.09	3.71	3.71	0.42584	Zinc finger, C2CH-type (4);	1.023770	0.07791	N	0.954918	D	0.97911	0.9313	M	0.74546	2.27	0.31428	N	0.673513	D	0.76494	0.999	D	0.87578	0.998	D	0.94319	0.7552	9	.	.	.	-21.5129	13.3075	0.60362	0.0:1.0:0.0:0.0	.	87	Q9H5L6	THAP9_HUMAN	Y	87	ENSP00000305533:S87Y	.	S	+	2	0	THAP9	84045092	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.352000	0.52239	2.386000	0.81285	0.650000	0.86243	TCT		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
THAP9	79725	broad.mit.edu	37	4	83827490	83827490	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83827490T>C	ENST00000302236.5	+	3	341	c.290T>C	c.(289-291)gTa>gCa	p.V97A		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	97					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.V97A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCTCAAGGTGTACATCTTAAA	0.299																																					p.V97A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T290C	4						.						84.0	85.0	84.0					4																	83827490		2202	4300	6502	84046514	SO:0001583	missense	79725	exon3			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.290T>C	4.37:g.83827490T>C	ENSP00000305533:p.Val97Ala		84046514	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	4.488	0.090560	0.08632	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.36520	1.25	3.73	0.203	0.15195	.	1.945050	0.03045	N	0.153821	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.08179	T	0.78	-0.3777	5.8039	0.18430	0.0:0.3144:0.0:0.6856	.	97	Q9H5L6	THAP9_HUMAN	A	97	ENSP00000305533:V97A	ENSP00000305533:V97A	V	+	2	0	THAP9	84046514	0.007000	0.16637	0.007000	0.13788	0.672000	0.39443	-0.168000	0.09925	0.026000	0.15269	0.482000	0.46254	GTA		0.299	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
LIN54	132660	broad.mit.edu	37	4	83860850	83860850	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83860850T>G	ENST00000340417.3	-	7	1659	c.1282A>C	c.(1282-1284)Act>Cct	p.T428P	LIN54_ENST00000395283.2_Missense_Mutation_p.T339P|LIN54_ENST00000505397.1_Missense_Mutation_p.T428P|LIN54_ENST00000442461.2_Missense_Mutation_p.T207P|LIN54_ENST00000446851.2_Missense_Mutation_p.T207P|LIN54_ENST00000506560.1_Missense_Mutation_p.T339P|LIN54_ENST00000510557.1_Missense_Mutation_p.T207P|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	428					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.T428P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGGCTAGTAGTTACTATTTGT	0.453																																					p.T207P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A619C	4						.						166.0	148.0	154.0					4																	83860850		2203	4300	6503	84079874	SO:0001583	missense	132660	exon7			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1282A>C	4.37:g.83860850T>G	ENSP00000341947:p.Thr428Pro		84079874	NM_001115008	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578033	0.45902	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.17	6.17	0.99709	.	0.088141	0.85682	D	0.000000	T	0.53384	0.1793	N	0.19112	0.55	0.80722	D	1	D;D;D	0.65815	0.967;0.968;0.995	P;P;P	0.56278	0.693;0.655;0.795	T	0.51639	-0.8680	9	0.32370	T	0.25	-21.1707	16.8222	0.85835	0.0:0.0:0.0:1.0	.	339;300;428	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	P	428;339;207;207;207;339;428	.	ENSP00000341947:T428P	T	-	1	0	LIN54	84079874	1.000000	0.71417	0.443000	0.26883	0.065000	0.16274	4.237000	0.58681	2.371000	0.80710	0.533000	0.62120	ACT		0.453	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282	
COPS4	51138	broad.mit.edu	37	4	83971076	83971076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:83971076G>T	ENST00000264389.2	+	4	484	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	COPS4_ENST00000503682.1_Nonsense_Mutation_p.E117*|COPS4_ENST00000511653.1_Nonsense_Mutation_p.E117*|COPS4_ENST00000509093.1_Nonsense_Mutation_p.E117*	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	117					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)		p.E117*(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATATGAGAAAGAAGAAGATTG	0.333																																					p.E117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G349T	4						.						127.0	145.0	139.0					4																	83971076		2203	4299	6502	84190100	SO:0001587	stop_gained	51138	exon4			AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.349G>T	4.37:g.83971076G>T	ENSP00000264389:p.Glu117*		84190100	NM_016129	B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Nonsense_Mutation	SNP	ENST00000264389.2	37	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191547	0.78902	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000503682;ENST00000511653	.	.	.	5.64	5.64	0.86602	.	0.053050	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-10.3624	19.7164	0.96122	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000264389:E117X	E	+	1	0	COPS4	84190100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.670000	0.83925	2.662000	0.90505	0.650000	0.86243	GAA		0.333	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1		
PLAC8	51316	broad.mit.edu	37	4	84015875	84015875	+	Missense_Mutation	SNP	C	C	A	rs183611787		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:84015875C>A	ENST00000509973.1	-	3	265	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	PLAC8_ENST00000311507.4_Missense_Mutation_p.D105Y|PLAC8_ENST00000505406.1_Missense_Mutation_p.D105Y|PLAC8_ENST00000426923.2_Missense_Mutation_p.D105Y|PLAC8_ENST00000411416.2_Missense_Mutation_p.D105Y|PLAC8_ENST00000515389.1_5'UTR			Q9UHV8	PP13_HUMAN	placenta-specific 8	0	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.D105Y(1)		large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CTGTTGATATCTCTCTTGATT	0.358																																					p.D105Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313T	4						.						114.0	105.0	108.0					4																	84015875		2203	4300	6503	84234899	SO:0001583	missense	51316	exon4			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.142G>T	4.37:g.84015875C>A	ENSP00000423459:p.Asp48Tyr		84234899	NM_001130715	C5HZ15	Missense_Mutation	SNP	ENST00000509973.1	37		.	.	.	.	.	.	.	.	.	.	C	19.61	3.860206	0.71834	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000509973;ENST00000505406;ENST00000426923	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.88310	2.945	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	D	0.87407	0.2373	9	0.87932	D	0	-28.5719	15.4799	0.75517	0.0:1.0:0.0:0.0	.	105	Q9NZF1	PLAC8_HUMAN	Y	105;105;48;105;105	.	ENSP00000309509:D105Y	D	-	1	0	PLAC8	84234899	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.015000	0.57152	2.418000	0.82041	0.655000	0.94253	GAT		0.358	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619	
COQ2	27235	broad.mit.edu	37	4	84185477	84185477	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:84185477T>C	ENST00000311469.4	-	7	1140	c.1141A>G	c.(1141-1143)Aat>Gat	p.N381D	COQ2_ENST00000439031.2_Missense_Mutation_p.N344D	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	331					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)	p.N381D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				ATAAATTTATTCCAACAATCC	0.373																																					p.N381D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1141G	4						.						112.0	103.0	106.0					4																	84185477		1806	4070	5876	84404501	SO:0001583	missense	27235	exon7				CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.1141A>G	4.37:g.84185477T>C	ENSP00000310873:p.Asn381Asp		84404501	NM_015697	O95331|Q1JQ78|Q684R2	Missense_Mutation	SNP	ENST00000311469.4	37	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	T	8.452	0.853407	0.17106	.	.	ENSG00000173085	ENST00000311469;ENST00000439031	D;D	0.92249	-3.0;-3.0	6.17	1.45	0.22620	.	0.703054	0.14535	N	0.313652	T	0.80352	0.4607	N	0.12746	0.255	0.26806	N	0.969106	B	0.06786	0.001	B	0.08055	0.003	T	0.65602	-0.6128	10	0.23302	T	0.38	-10.3037	4.9179	0.13854	0.0:0.4066:0.148:0.4454	.	331	Q96H96	COQ2_HUMAN	D	381;344	ENSP00000310873:N381D;ENSP00000409275:N344D	ENSP00000310873:N381D	N	-	1	0	COQ2	84404501	1.000000	0.71417	0.572000	0.28498	0.742000	0.42306	1.387000	0.34430	0.152000	0.19188	-0.242000	0.12053	AAT		0.373	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697	
HELQ	113510	broad.mit.edu	37	4	84342784	84342784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:84342784G>A	ENST00000295488.3	-	15	3043	c.2881C>T	c.(2881-2883)Cga>Tga	p.R961*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.R894*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	961					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R961*(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATATATCCTCGAGGCATATTA	0.348								Other identified genes with known or suspected DNA repair function																													p.R961X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2881T	4						.						104.0	103.0	103.0					4																	84342784		2203	4300	6503	84561808	SO:0001587	stop_gained	113510	exon15			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2881C>T	4.37:g.84342784G>A	ENSP00000295488:p.Arg961*		84561808	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Nonsense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	42	9.179312	0.99091	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.26	4.39	0.52855	.	0.071588	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0164	13.4043	0.60903	0.0:0.0:0.8427:0.1573	.	.	.	.	X	961;894	.	ENSP00000295488:R961X	R	-	1	2	HELQ	84561808	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.009000	0.57110	1.165000	0.42670	0.591000	0.81541	CGA		0.348	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
MRPS18C	51023	broad.mit.edu	37	4	84382149	84382149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:84382149G>T	ENST00000295491.4	+	5	429	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	MRPS18C_ENST00000507349.1_Missense_Mutation_p.K58N|FAM175A_ENST00000321945.7_3'UTR|MRPS18C_ENST00000507019.1_Nonsense_Mutation_p.E78*	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	106					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.E106*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GAAACAGAAAGAAATCACAAA	0.289																																					p.E106X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G316T	4						.						59.0	65.0	63.0					4																	84382149		2202	4297	6499	84601173	SO:0001587	stop_gained	51023	exon5				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.316G>T	4.37:g.84382149G>T	ENSP00000295491:p.Glu106*		84601173	NM_016067		Nonsense_Mutation	SNP	ENST00000295491.4	37	CCDS3604.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.4|20.4|20.4	3.979087|3.979087|3.979087	0.74360|0.74360|0.74360	.|.|.	.|.|.	ENSG00000163319|ENSG00000163319|ENSG00000163319	ENST00000295491;ENST00000507019|ENST00000507349;ENST00000505719|ENST00000509970	.|.|.	.|.|.	.|.|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|.	0.109676|.|.	0.64402|.|.	D|.|.	0.000012|.|.	.|T|T	.|0.74458|0.74458	.|0.3719|0.3719	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.73347|0.73347	.|-0.4011|-0.4011	.|5|4	0.28530|0.72032|.	T|D|.	0.3|0.01|.	-23.0463|-23.0463|-23.0463	18.5577|18.5577|18.5577	0.91090|0.91090|0.91090	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	106;78|58;82|76	.|.|.	ENSP00000295491:E106X|ENSP00000425268:K82N|.	E|K|R	+|+|+	1|3|2	0|2|0	MRPS18C|MRPS18C|MRPS18C	84601173|84601173|84601173	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	5.859000|5.859000|5.859000	0.69539|0.69539|0.69539	2.608000|2.608000|2.608000	0.88229|0.88229|0.88229	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAA|AAG|AGA		0.289	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2		
AGPAT9	84803	broad.mit.edu	37	4	84516010	84516010	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:84516010C>A	ENST00000395226.2	+	8	969	c.751C>A	c.(751-753)Cat>Aat	p.H251N	AGPAT9_ENST00000264409.4_Missense_Mutation_p.H251N	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	251					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.H251N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGGCCAGGTTCATGGCGGCTT	0.413																																					p.H251N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751A	4						.						161.0	164.0	163.0					4																	84516010		2203	4300	6503	84735034	SO:0001583	missense	84803	exon7			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.751C>A	4.37:g.84516010C>A	ENSP00000378651:p.His251Asn		84735034	NM_032717	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199300	0.58126	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.93133	-3.17;-3.17	5.81	4.96	0.65561	Phospholipid/glycerol acyltransferase (2);	0.091303	0.85682	N	0.000000	D	0.93197	0.7833	M	0.77820	2.39	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	D	0.90741	0.4650	10	0.72032	D	0.01	-5.3812	16.4153	0.83731	0.1323:0.8676:0.0:0.0	.	251	Q53EU6	GPAT3_HUMAN	N	251	ENSP00000378651:H251N;ENSP00000264409:H251N	ENSP00000264409:H251N	H	+	1	0	AGPAT9	84735034	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	6.075000	0.71261	1.443000	0.47586	0.655000	0.94253	CAT		0.413	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
NKX6-1	4825	broad.mit.edu	37	4	85416961	85416961	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85416961C>A	ENST00000295886.4	-	2	928	c.707G>T	c.(706-708)aGa>aTa	p.R236I	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	236	Repressor domain. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R236I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		CGTGTGTTTTCTCTTCCCGTC	0.493																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	4						.						90.0	95.0	93.0					4																	85416961		2203	4300	6503	85635985	SO:0001583	missense	4825	exon2			AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.707G>T	4.37:g.85416961C>A	ENSP00000295886:p.Arg236Ile		85635985	NM_006168		Missense_Mutation	SNP	ENST00000295886.4	37	CCDS3607.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676272	0.88445	.	.	ENSG00000163623	ENST00000295886	D	0.95853	-3.83	5.55	5.55	0.83447	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.049871	0.85682	D	0.000000	D	0.96883	0.8982	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.97207	0.9868	10	0.62326	D	0.03	-11.6583	18.0999	0.89503	0.0:1.0:0.0:0.0	.	236	P78426	NKX61_HUMAN	I	236	ENSP00000295886:R236I	ENSP00000295886:R236I	R	-	2	0	NKX6-1	85635985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.644000	0.54381	2.606000	0.88127	0.655000	0.94253	AGA		0.493	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168	
CDS1	1040	broad.mit.edu	37	4	85569737	85569737	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85569737G>A	ENST00000295887.5	+	13	1707	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> F (may increase breast cancer risk; dbSNP:rs137853011). {ECO:0000269|PubMed:15649950}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.Q428Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AAGTGCTACAGCAGTTGTTGG	0.393																																					p.Q428Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1284A	4						.						66.0	65.0	65.0					4																	85569737		2203	4300	6503	85788761	SO:0001819	synonymous_variant	1040	exon13			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.1284G>A	4.37:g.85569737G>A			85788761	NM_001263	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	CCDS3608.1																																																																																				0.393	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		
WDFY3	23001	broad.mit.edu	37	4	85658388	85658388	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85658388C>T	ENST00000295888.4	-	41	7113	c.6706G>A	c.(6706-6708)Gca>Aca	p.A2236T	WDFY3_ENST00000322366.6_Missense_Mutation_p.A2236T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2236					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.A2236T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTGGCCTTGCTGTAGCTATG	0.443																																					p.A2236T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6706A	4						.						176.0	153.0	161.0					4																	85658388		2203	4300	6503	85877412	SO:0001583	missense	23001	exon41			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6706G>A	4.37:g.85658388C>T	ENSP00000295888:p.Ala2236Thr		85877412	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719095	0.48622	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.65364	-0.14;-0.15	5.13	5.13	0.70059	.	0.052312	0.85682	D	0.000000	T	0.50326	0.1609	L	0.28556	0.865	0.80722	D	1	B	0.18310	0.027	B	0.12837	0.008	T	0.46359	-0.9197	10	0.11485	T	0.65	.	18.5904	0.91210	0.0:1.0:0.0:0.0	.	2236	Q8IZQ1	WDFY3_HUMAN	T	2236	ENSP00000318466:A2236T;ENSP00000295888:A2236T	ENSP00000295888:A2236T	A	-	1	0	WDFY3	85877412	1.000000	0.71417	0.869000	0.34112	0.560000	0.35617	7.463000	0.80869	2.392000	0.81423	0.563000	0.77884	GCA		0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85661548	85661548	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85661548A>C	ENST00000295888.4	-	39	6663	c.6256T>G	c.(6256-6258)Ttg>Gtg	p.L2086V	WDFY3_ENST00000322366.6_Missense_Mutation_p.L2086V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2086					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L2086V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAGTGACAATCCCTGTGAT	0.383																																					p.L2086V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6256G	4						.						170.0	147.0	155.0					4																	85661548		2203	4300	6503	85880572	SO:0001583	missense	23001	exon39			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6256T>G	4.37:g.85661548A>C	ENSP00000295888:p.Leu2086Val		85880572	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	6.257	0.415585	0.11870	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62498	0.02;0.02	5.46	-2.28	0.06826	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.16368	0.405	0.44207	D	0.997034	B	0.31459	0.324	B	0.22386	0.039	T	0.27297	-1.0078	10	0.07990	T	0.79	.	12.5271	0.56093	0.4064:0.0:0.5936:0.0	.	2086	Q8IZQ1	WDFY3_HUMAN	V	2086	ENSP00000318466:L2086V;ENSP00000295888:L2086V	ENSP00000295888:L2086V	L	-	1	2	WDFY3	85880572	0.027000	0.19231	0.087000	0.20705	0.992000	0.81027	0.502000	0.22594	-0.396000	0.07703	0.383000	0.25322	TTG		0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85696122	85696122	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85696122C>A	ENST00000295888.4	-	29	5012	c.4605G>T	c.(4603-4605)aaG>aaT	p.K1535N	WDFY3_ENST00000322366.6_Missense_Mutation_p.K1535N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1535					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.K1535N(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTTGGCATTCTTTGAGGCTT	0.353																																					p.K1535N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4605T	4						.						115.0	124.0	121.0					4																	85696122		2203	4300	6503	85915146	SO:0001583	missense	23001	exon29			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4605G>T	4.37:g.85696122C>A	ENSP00000295888:p.Lys1535Asn		85915146	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622178	0.28889	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.49432	0.78;0.78	5.33	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	N	0.19112	0.55	0.80722	D	1	B	0.17038	0.02	B	0.12837	0.008	T	0.07751	-1.0756	10	0.24483	T	0.36	.	11.2267	0.48888	0.0:0.8553:0.0:0.1447	.	1535	Q8IZQ1	WDFY3_HUMAN	N	1535	ENSP00000318466:K1535N;ENSP00000295888:K1535N	ENSP00000295888:K1535N	K	-	3	2	WDFY3	85915146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.000000	0.40816	2.650000	0.89964	0.655000	0.94253	AAG		0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85741252	85741252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:85741252G>T	ENST00000295888.4	-	12	2086	c.1679C>A	c.(1678-1680)tCa>tAa	p.S560*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.S560*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	560					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.S560*(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATTTGTGTTTGATCCTTGAAG	0.368																																					p.S560X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1679A	4						.						200.0	215.0	210.0					4																	85741252		2203	4300	6503	85960276	SO:0001587	stop_gained	23001	exon12			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1679C>A	4.37:g.85741252G>T	ENSP00000295888:p.Ser560*		85960276	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	42	9.771155	0.99260	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.68	5.68	0.88126	.	0.129971	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.839	0.96675	0.0:0.0:1.0:0.0	.	.	.	.	X	560	.	ENSP00000295888:S560X	S	-	2	0	WDFY3	85960276	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.021000	0.93673	2.678000	0.91216	0.579000	0.79373	TCA		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
ARHGAP24	83478	broad.mit.edu	37	4	86893267	86893267	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:86893267G>A	ENST00000395184.1	+	6	1144	c.678G>A	c.(676-678)gcG>gcA	p.A226A	ARHGAP24_ENST00000264343.4_Silent_p.A133A|ARHGAP24_ENST00000395183.2_Silent_p.A131A|ARHGAP24_ENST00000503995.1_Silent_p.A226A	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	226	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.A133A(2)|p.A226A(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTCCTTATGCGAAGTATGAAG	0.408																																					p.A133A												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G399A	4						.						117.0	109.0	112.0					4																	86893267		2203	4300	6503	87112291	SO:0001819	synonymous_variant	83478	exon3			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.678G>A	4.37:g.86893267G>A			87112291	NM_031305	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	ENST00000395184.1	37	CCDS34025.1																																																																																				0.408	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
MAPK10	5602	broad.mit.edu	37	4	86950395	86950395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:86950395C>A	ENST00000359221.3	-	13	1733	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	MAPK10_ENST00000449047.2_Nonsense_Mutation_p.E258*|MAPK10_ENST00000395161.2_Nonsense_Mutation_p.E403*|MAPK10_ENST00000395166.1_Nonsense_Mutation_p.E365*|MAPK10_ENST00000395160.3_Nonsense_Mutation_p.E258*|MAPK10_ENST00000395157.3_Nonsense_Mutation_p.E258*|MAPK10_ENST00000395169.3_Nonsense_Mutation_p.E365*|MAPK10_ENST00000361569.2_Nonsense_Mutation_p.E403*			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	403					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.E258*(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTAGTCTTTTCTTCTGAATTC	0.343																																					p.E258X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G772T	4						.						212.0	202.0	205.0					4																	86950395		2203	4300	6503	87169419	SO:0001587	stop_gained	5602	exon8			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1207G>T	4.37:g.86950395C>A	ENSP00000352157:p.Glu403*		87169419	NM_138981	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Nonsense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.458536|10.458536	0.99409|0.99409	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76919	.|0.4055	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73959	.|-0.3818	.|4	0.66056|.	D|.	0.02|.	-23.2627|-23.2627	20.0074|20.0074	0.97437|0.97437	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	365;403;258;403;365;258;258;403|315	.|.	ENSP00000352157:E403X|.	E|R	-|-	1|2	0|0	MAPK10|MAPK10	87169419|87169419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.746000|6.746000	0.74866|0.74866	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.343	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
PTPN13	5783	broad.mit.edu	37	4	87666275	87666275	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87666275G>T	ENST00000411767.2	+	17	2707	c.2644G>T	c.(2644-2646)Gat>Tat	p.D882Y	PTPN13_ENST00000436978.1_Missense_Mutation_p.D882Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.D882Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.D882Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.D882Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	882					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.D882Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGATGCCCAAGATATTGGTAA	0.418																																					p.D882Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2644T	4						.						59.0	56.0	57.0					4																	87666275		1935	4152	6087	87885299	SO:0001583	missense	5783	exon17				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2644G>T	4.37:g.87666275G>T	ENSP00000407249:p.Asp882Tyr		87885299	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227559	0.79576	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.55234	0.57;0.58;1.15;0.53;0.58	5.35	5.35	0.76521	.	0.000000	0.47455	D	0.000232	T	0.65386	0.2686	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.47034	0.889;0.842;0.756;0.842	P;P;B;P	0.55222	0.771;0.477;0.377;0.581	T	0.68213	-0.5468	10	0.87932	D	0	.	17.2504	0.87041	0.0:0.0:1.0:0.0	.	882;882;882;882	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	882;882;882;882;882;850	ENSP00000408368:D882Y;ENSP00000394794:D882Y;ENSP00000322675:D882Y;ENSP00000407249:D882Y;ENSP00000426626:D882Y	ENSP00000322675:D882Y	D	+	1	0	PTPN13	87885299	1.000000	0.71417	0.429000	0.26710	0.977000	0.68977	7.608000	0.82898	2.502000	0.84385	0.557000	0.71058	GAT		0.418	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87671632C>T	ENST00000411767.2	+	18	2723	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000436978.1_Missense_Mutation_p.S887L|PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	887					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S887L(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAGAGCTTCGTTTAGGAGC	0.413																																					p.S887L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2660T	4						.						152.0	149.0	150.0					4																	87671632		1883	4121	6004	87890656	SO:0001583	missense	5783	exon18				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2660C>T	4.37:g.87671632C>T	ENSP00000407249:p.Ser887Leu		87890656	NM_080683	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319143	0.81469	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.54675	0.56;0.62;0.61;0.62	5.9	5.9	0.94986	.	0.000000	0.43110	D	0.000609	T	0.70753	0.3260	M	0.62723	1.935	0.49798	D	0.999821	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.64410	0.925;0.918;0.925	T	0.70182	-0.4942	10	0.59425	D	0.04	.	20.274	0.98482	0.0:1.0:0.0:0.0	.	887;887;887	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	L	887;887;887;887;855	ENSP00000408368:S887L;ENSP00000394794:S887L;ENSP00000407249:S887L;ENSP00000426626:S887L	ENSP00000349909:S855L	S	+	2	0	PTPN13	87890656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.024000	0.70857	2.797000	0.96272	0.650000	0.86243	TCG		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87674209	87674209	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87674209A>C	ENST00000411767.2	+	20	3277	c.3214A>C	c.(3214-3216)Aaa>Caa	p.K1072Q	PTPN13_ENST00000436978.1_Missense_Mutation_p.K1072Q|PTPN13_ENST00000427191.2_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1072Q|PTPN13_ENST00000316707.6_Intron			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1072					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.K1072Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTACCCTTAAAAGAAAATGG	0.348																																					p.K1072Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3214C	4						.						83.0	80.0	81.0					4																	87674209		1829	4082	5911	87893233	SO:0001583	missense	5783	exon20				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3214A>C	4.37:g.87674209A>C	ENSP00000407249:p.Lys1072Gln		87893233	NM_080683	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418993	0.42918	.	.	ENSG00000163629	ENST00000436978;ENST00000411767;ENST00000511467	T;T;T	0.52057	0.68;0.68;0.68	5.08	5.08	0.68730	PDZ/DHR/GLGF (1);	0.000000	0.46145	D	0.000304	T	0.44052	0.1275	L	0.56769	1.78	0.38229	D	0.940998	B;P	0.36438	0.264;0.553	B;B	0.35353	0.044;0.201	T	0.49707	-0.8911	10	0.35671	T	0.21	.	12.8691	0.57955	1.0:0.0:0.0:0.0	.	1072;1072	Q12923;Q12923-4	PTN13_HUMAN;.	Q	1072	ENSP00000394794:K1072Q;ENSP00000407249:K1072Q;ENSP00000426626:K1072Q	ENSP00000407249:K1072Q	K	+	1	0	PTPN13	87893233	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	5.649000	0.67936	2.039000	0.60335	0.533000	0.62120	AAA		0.348	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87683926	87683926	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87683926G>T	ENST00000411767.2	+	24	3663	c.3600G>T	c.(3598-3600)atG>atT	p.M1200I	PTPN13_ENST00000436978.1_Missense_Mutation_p.M1200I|PTPN13_ENST00000427191.2_Missense_Mutation_p.M1181I|PTPN13_ENST00000511467.1_Missense_Mutation_p.M1200I|PTPN13_ENST00000316707.6_Missense_Mutation_p.M1009I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1200					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.M1200I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAACTACATGAAGAAATCTT	0.428																																					p.M1009I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3027T	4						.						97.0	96.0	96.0					4																	87683926		1909	4119	6028	87902950	SO:0001583	missense	5783	exon21				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3600G>T	4.37:g.87683926G>T	ENSP00000407249:p.Met1200Ile		87902950	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	6.332	0.429338	0.11987	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.50813	0.73;0.77;0.83;0.73;0.77	5.47	0.499	0.16914	.	0.547660	0.16582	N	0.208168	T	0.31482	0.0798	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.16166	0.001;0.013;0.016;0.013	B;B;B;B	0.17722	0.001;0.019;0.009;0.019	T	0.12837	-1.0532	10	0.27785	T	0.31	.	2.8659	0.05601	0.2888:0.1141:0.4681:0.129	.	1009;1181;1200;1200	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	I	1181;1200;1009;1200;1200;1149	ENSP00000408368:M1181I;ENSP00000394794:M1200I;ENSP00000322675:M1009I;ENSP00000407249:M1200I;ENSP00000426626:M1200I	ENSP00000322675:M1009I	M	+	3	0	PTPN13	87902950	0.459000	0.25768	0.996000	0.52242	0.526000	0.34562	0.424000	0.21330	0.372000	0.24591	0.650000	0.86243	ATG		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87684096	87684096	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87684096C>A	ENST00000411767.2	+	24	3833	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	PTPN13_ENST00000436978.1_Missense_Mutation_p.S1257Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1238Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1257Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1066Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1257					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S1257Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCCAGCTTGTCTCAAAGCCAG	0.542																																					p.S1066Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3197A	4						.						72.0	73.0	73.0					4																	87684096		1916	4135	6051	87903120	SO:0001583	missense	5783	exon21				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3770C>A	4.37:g.87684096C>A	ENSP00000407249:p.Ser1257Tyr		87903120	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782499	0.70222	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54675	0.56;0.58;0.66;0.56;0.58	5.47	5.47	0.80525	.	0.000000	0.50627	D	0.000105	T	0.71400	0.3335	M	0.63843	1.955	0.36924	D	0.891553	D;D;D;D	0.76494	0.986;0.996;0.999;0.999	P;D;D;D	0.72338	0.858;0.93;0.949;0.977	T	0.76586	-0.2905	10	0.66056	D	0.02	.	19.3346	0.94309	0.0:1.0:0.0:0.0	.	1066;1238;1257;1257	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	1238;1257;1066;1257;1257;1206	ENSP00000408368:S1238Y;ENSP00000394794:S1257Y;ENSP00000322675:S1066Y;ENSP00000407249:S1257Y;ENSP00000426626:S1257Y	ENSP00000322675:S1066Y	S	+	2	0	PTPN13	87903120	0.993000	0.37304	1.000000	0.80357	0.891000	0.51852	2.909000	0.48758	2.549000	0.85964	0.650000	0.86243	TCT		0.542	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87684202	87684202	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87684202G>T	ENST00000411767.2	+	24	3939	c.3876G>T	c.(3874-3876)gaG>gaT	p.E1292D	PTPN13_ENST00000436978.1_Missense_Mutation_p.E1292D|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1273D|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1292D|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1101D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1292					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E1292D(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGCCACCGAGAAAGAGACTT	0.458																																					p.E1101D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3303T	4						.						80.0	78.0	79.0					4																	87684202		1865	4116	5981	87903226	SO:0001583	missense	5783	exon21				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3876G>T	4.37:g.87684202G>T	ENSP00000407249:p.Glu1292Asp		87903226	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.481358	0.26598	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53206	0.63;0.73;0.73;0.64;0.73	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000081	T	0.36799	0.0980	L	0.34521	1.04	0.33795	D	0.625925	B;B;B;B	0.13594	0.008;0.0;0.001;0.002	B;B;B;B	0.13407	0.009;0.004;0.003;0.006	T	0.41502	-0.9505	10	0.16896	T	0.51	.	14.8743	0.70483	0.0:0.1431:0.8569:0.0	.	1101;1273;1292;1292	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	1273;1292;1101;1292;1292;1241	ENSP00000408368:E1273D;ENSP00000394794:E1292D;ENSP00000322675:E1101D;ENSP00000407249:E1292D;ENSP00000426626:E1292D	ENSP00000322675:E1101D	E	+	3	2	PTPN13	87903226	1.000000	0.71417	0.735000	0.30896	0.095000	0.18619	2.227000	0.42972	2.546000	0.85860	0.645000	0.84053	GAG		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87689108	87689108	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87689108G>T	ENST00000411767.2	+	28	4531	c.4468G>T	c.(4468-4470)Gac>Tac	p.D1490Y	PTPN13_ENST00000436978.1_Missense_Mutation_p.D1495Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.D1471Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.D1495Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.D1299Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1490					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.D1495Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGGTCAAAGACTACAGCTT	0.413																																					p.D1299Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3895T	4						.						83.0	79.0	80.0					4																	87689108		1861	4101	5962	87908132	SO:0001583	missense	5783	exon25				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4468G>T	4.37:g.87689108G>T	ENSP00000407249:p.Asp1490Tyr		87908132	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653638	0.88056	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.56444	0.47;0.5;0.58;0.46;0.5	5.77	5.77	0.91146	PDZ/DHR/GLGF (1);	0.000000	0.53938	D	0.000043	T	0.70928	0.3280	L	0.58101	1.795	0.58432	D	0.999999	D;B;D;D	0.89917	1.0;0.016;0.993;0.991	D;B;P;D	0.70935	0.971;0.053;0.906;0.944	T	0.71852	-0.4467	10	0.87932	D	0	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	1299;1471;1490;1495	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	1471;1495;1299;1490;1495;1439	ENSP00000408368:D1471Y;ENSP00000394794:D1495Y;ENSP00000322675:D1299Y;ENSP00000407249:D1490Y;ENSP00000426626:D1495Y	ENSP00000322675:D1299Y	D	+	1	0	PTPN13	87908132	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	8.585000	0.90802	2.729000	0.93468	0.655000	0.94253	GAC		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87707064	87707064	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87707064C>A	ENST00000411767.2	+	40	6383	c.6320C>A	c.(6319-6321)tCa>tAa	p.S2107*	PTPN13_ENST00000436978.1_Nonsense_Mutation_p.S2112*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S2088*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S2112*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1916*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2107					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S2112*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGCGATGGTTCACCTTTACCT	0.358																																					p.S1916X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5747A	4						.						64.0	58.0	60.0					4																	87707064		1867	4100	5967	87926088	SO:0001587	stop_gained	5783	exon37				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6320C>A	4.37:g.87707064C>A	ENSP00000407249:p.Ser2107*		87926088	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	47	13.617373	0.99753	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.04	4.14	0.48551	.	0.185965	0.25900	N	0.027575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5927	0.39557	0.143:0.7781:0.0:0.0789	.	.	.	.	X	2088;2112;1916;2107;2112;2056	.	ENSP00000322675:S1916X	S	+	2	0	PTPN13	87926088	0.998000	0.40836	0.106000	0.21319	0.324000	0.28378	2.285000	0.43487	2.478000	0.83669	0.460000	0.39030	TCA		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87724993	87724993	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87724993C>A	ENST00000411767.2	+	43	6700	c.6637C>A	c.(6637-6639)Cct>Act	p.P2213T	PTPN13_ENST00000436978.1_Missense_Mutation_p.P2218T|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2194T|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2218T|PTPN13_ENST00000316707.6_Missense_Mutation_p.P2022T			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2213	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.P2218T(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAAGGAATTCCTTCTAAGGA	0.443																																					p.P2022T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6064A	4						.						137.0	128.0	131.0					4																	87724993		1866	4100	5966	87944017	SO:0001583	missense	5783	exon40				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6637C>A	4.37:g.87724993C>A	ENSP00000407249:p.Pro2213Thr		87944017	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177187	0.78564	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.18	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.49305	D	0.000148	T	0.35828	0.0945	M	0.62723	1.935	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.987;1.0;0.999;1.0	T	0.01591	-1.1317	10	0.28530	T	0.3	.	19.0623	0.93097	0.0:1.0:0.0:0.0	.	2022;2194;2213;2218	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	T	2194;2218;2022;2213;2218;2162	ENSP00000408368:P2194T;ENSP00000394794:P2218T;ENSP00000322675:P2022T;ENSP00000407249:P2213T;ENSP00000426626:P2218T	ENSP00000322675:P2022T	P	+	1	0	PTPN13	87944017	1.000000	0.71417	0.956000	0.39512	0.996000	0.88848	6.679000	0.74513	2.562000	0.86427	0.555000	0.69702	CCT		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87728798	87728798	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87728798C>T	ENST00000411767.2	+	45	6894	c.6831C>T	c.(6829-6831)ttC>ttT	p.F2277F	PTPN13_ENST00000436978.1_Silent_p.F2282F|PTPN13_ENST00000427191.2_Silent_p.F2258F|PTPN13_ENST00000511467.1_Silent_p.F2282F|PTPN13_ENST00000316707.6_Silent_p.F2086F			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2277	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.F2282F(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGAAGAGTTCGTTTACATTG	0.448																																					p.F2086F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6258T	4						.						184.0	175.0	178.0					4																	87728798		1913	4122	6035	87947822	SO:0001819	synonymous_variant	5783	exon42				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6831C>T	4.37:g.87728798C>T			87947822	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	CCDS47094.1																																																																																				0.448	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
SLC10A6	345274	broad.mit.edu	37	4	87770114	87770114	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:87770114G>T	ENST00000273905.6	-	1	302	c.155C>A	c.(154-156)tCc>tAc	p.S52Y	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	52					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)	p.S52Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATCTCCACGGAACATCCCAA	0.557																																					p.S52Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155A	4						.						76.0	56.0	63.0					4																	87770114		2203	4300	6503	87989138	SO:0001583	missense	345274	exon1			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.155C>A	4.37:g.87770114G>T	ENSP00000273905:p.Ser52Tyr		87989138	NM_197965	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286564	0.59867	.	.	ENSG00000145283	ENST00000273905	T	0.11821	2.74	5.85	5.85	0.93711	.	0.077043	0.52532	D	0.000068	T	0.35799	0.0944	M	0.62723	1.935	0.49582	D	0.999804	D	0.64830	0.994	D	0.67103	0.949	T	0.01413	-1.1361	10	0.87932	D	0	-7.349	17.6669	0.88205	0.0:0.0:1.0:0.0	.	52	Q3KNW5	SOAT_HUMAN	Y	52	ENSP00000273905:S52Y	ENSP00000273905:S52Y	S	-	2	0	SLC10A6	87989138	1.000000	0.71417	0.981000	0.43875	0.031000	0.12232	6.294000	0.72738	2.768000	0.95171	0.655000	0.94253	TCC		0.557	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965	
AFF1	4299	broad.mit.edu	37	4	88047377	88047377	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88047377C>T	ENST00000307808.6	+	13	3099	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	AFF1_ENST00000544085.1_Silent_p.G531G|AFF1_ENST00000395146.4_Silent_p.G900G	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	893					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G893G(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACACCTGTGGCCAGGACCCTC	0.577																																					p.G900G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2700T	4						.						77.0	75.0	76.0					4																	88047377		2203	4300	6503	88266401	SO:0001819	synonymous_variant	4299	exon14			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2679C>T	4.37:g.88047377C>T			88266401	NM_001166693	B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	CCDS3616.1																																																																																				0.577	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
SPARCL1	8404	broad.mit.edu	37	4	88415107	88415107	+	Missense_Mutation	SNP	G	G	A	rs200319615	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88415107G>A	ENST00000282470.6	-	4	1315	c.845C>T	c.(844-846)tCg>tTg	p.S282L	SPARCL1_ENST00000503414.1_Missense_Mutation_p.S157L|SPARCL1_ENST00000418378.1_Missense_Mutation_p.S282L	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	282					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S282L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTGACGTTCGATGCATTTTC	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		23764	0.0		0.0	False		,,,				2504	0.001				p.S282L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845T	4						.	G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	362.0	353.0	356.0		845,845	4.0	0.1	4		356	0,8600		0,0,4300	no	missense,missense	SPARCL1	NM_001128310.1,NM_004684.4	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	282/665,282/665	88415107	1,13005	2203	4300	6503	88634131	SO:0001583	missense	8404	exon5			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.845C>T	4.37:g.88415107G>A	ENSP00000282470:p.Ser282Leu		88634131	NM_001128310	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776762	0.49786	2.27E-4	0.0	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.26518	2.29;2.29;1.73	4.89	4.03	0.46877	.	0.537014	0.17396	N	0.175753	T	0.18383	0.0441	L	0.32530	0.975	0.09310	N	1	D;D	0.56521	0.957;0.976	B;B	0.41174	0.264;0.349	T	0.15578	-1.0432	10	0.87932	D	0	-3.3581	8.1785	0.31296	0.105:0.0:0.895:0.0	.	282;282	Q8N4S1;Q14515	.;SPRL1_HUMAN	L	282;282;157;157	ENSP00000282470:S282L;ENSP00000414856:S282L;ENSP00000422903:S157L	ENSP00000282470:S282L	S	-	2	0	SPARCL1	88634131	0.612000	0.27000	0.084000	0.20598	0.007000	0.05969	2.487000	0.45268	2.650000	0.89964	0.655000	0.94253	TCG		0.413	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
DSPP	1834	broad.mit.edu	37	4	88533590	88533590	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88533590G>T	ENST00000282478.7	+	3	285	c.252G>T	c.(250-252)aaG>aaT	p.K84N	DSPP_ENST00000399271.1_Missense_Mutation_p.K84N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	84					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.K84N(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATGGCTCTAAGTGGGCAGAAG	0.468																																					p.K84N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G252T	4						.						77.0	79.0	78.0					4																	88533590		1918	4141	6059	88752614	SO:0001583	missense	1834	exon4			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.252G>T	4.37:g.88533590G>T	ENSP00000282478:p.Lys84Asn		88752614	NM_014208	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843128	0.32606	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88431	-2.38;-2.38	5.24	3.5	0.40072	.	0.264107	0.19944	N	0.102585	T	0.76842	0.4044	N	0.08118	0	0.22081	N	0.999376	B	0.30281	0.275	B	0.30782	0.12	T	0.70368	-0.4891	10	0.72032	D	0.01	-10.4849	8.9832	0.35977	0.1802:0.0:0.8198:0.0	.	84	Q9NZW4	DSPP_HUMAN	N	84	ENSP00000382213:K84N;ENSP00000282478:K84N	ENSP00000282478:K84N	K	+	3	2	DSPP	88752614	0.994000	0.37717	0.986000	0.45419	0.322000	0.28314	1.317000	0.33631	1.211000	0.43351	0.460000	0.39030	AAG		0.468	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
DMP1	1758	broad.mit.edu	37	4	88583911	88583911	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88583911G>A	ENST00000339673.6	+	6	1080	c.981G>A	c.(979-981)caG>caA	p.Q327Q	RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Silent_p.Q311Q	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	327					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.Q327Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATCTGTCCCAGGAAGAGAGCC	0.527																																					p.Q311Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G933A	4						.						96.0	92.0	93.0					4																	88583911		2203	4300	6503	88802935	SO:0001819	synonymous_variant	1758	exon5			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.981G>A	4.37:g.88583911G>A			88802935	NM_001079911	A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.527	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1		
MEPE	56955	broad.mit.edu	37	4	88766450	88766450	+	Missense_Mutation	SNP	G	G	A	rs148637496		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88766450G>A	ENST00000424957.3	+	4	503	c.430G>A	c.(430-432)Gca>Aca	p.A144T	MEPE_ENST00000497649.2_Missense_Mutation_p.A120T|MEPE_ENST00000560249.1_Missense_Mutation_p.A31T|MEPE_ENST00000540395.1_Missense_Mutation_p.A31T|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.A175T|MEPE_ENST00000361056.3_Missense_Mutation_p.A144T	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	144					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A144T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAATATGGCGCAGCTCTCAT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17066	0.001		0.0	False		,,,				2504	0.0				p.A31T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91A	4						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	67.0	66.0	66.0		430,91,91,91,430	-6.0	0.0	4	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	MEPE	NM_001184694.1,NM_001184695.1,NM_001184696.1,NM_001184697.1,NM_020203.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	144/526,31/413,31/413,31/413,144/526	88766450	1,13005	2203	4300	6503	88985474	SO:0001583	missense	56955	exon6			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.430G>A	4.37:g.88766450G>A	ENSP00000416984:p.Ala144Thr		88985474	NM_001184697	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.965	0.971637	0.18736	0.0	1.16E-4	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.53423	4.37;0.63;0.62;0.66;4.37	4.84	-6.02	0.02192	.	1.188580	0.06056	N	0.657516	T	0.23846	0.0577	L	0.33624	1.015	0.09310	N	1	P	0.38711	0.643	B	0.27715	0.082	T	0.14476	-1.0471	10	0.19147	T	0.46	-0.0246	4.3233	0.11027	0.5714:0.1098:0.2076:0.1112	.	144	Q9NQ76	MEPE_HUMAN	T	144;144;175;120;31;144	ENSP00000416984:A144T;ENSP00000378534:A175T;ENSP00000422747:A120T;ENSP00000443491:A31T;ENSP00000354341:A144T	ENSP00000354341:A144T	A	+	1	0	MEPE	88985474	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.239000	0.08965	-1.469000	0.01890	-0.829000	0.03081	GCA		0.428	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
PKD2	5311	broad.mit.edu	37	4	88989195	88989195	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:88989195C>A	ENST00000508588.1	+	8	1153	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.S835Y|PKD2_ENST00000502363.1_Missense_Mutation_p.S253Y			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S835Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGGCGTTTCTTACGAAGAG	0.473																																					p.S835Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2504A	4						.						131.0	119.0	123.0					4																	88989195		2203	4300	6503	89208219	SO:0001583	missense	5311	exon13			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.758C>A	4.37:g.88989195C>A	ENSP00000427131:p.Ser253Tyr		89208219	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37		.	.	.	.	.	.	.	.	.	.	C	17.01	3.279986	0.59758	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92965	-0.38;-3.14;-3.14	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96129	0.9091	10	0.87932	D	0	-15.9737	19.7939	0.96471	0.0:1.0:0.0:0.0	.	835	Q13563	PKD2_HUMAN	Y	835;253;253	ENSP00000237596:S835Y;ENSP00000427131:S253Y;ENSP00000425289:S253Y	ENSP00000237596:S835Y	S	+	2	0	PKD2	89208219	1.000000	0.71417	0.935000	0.37517	0.126000	0.20510	7.207000	0.77899	2.668000	0.90789	0.563000	0.77884	TCT		0.473	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297	
ABCG2	9429	broad.mit.edu	37	4	89042908	89042908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89042908C>A	ENST00000237612.3	-	6	1113	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABCG2_ENST00000515655.1_Nonsense_Mutation_p.E190*	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	190	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E190*(1)|p.E190K(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CTTTTTCTTTCTCCTCCAGAC	0.398																																					p.E190X												ABCG2,central_nervous_system,brain,Substitution - Missense,0	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|central_nervous_system(1)	c.G568T	4						.						153.0	147.0	149.0					4																	89042908		2203	4300	6503	89261932	SO:0001587	stop_gained	9429	exon6			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.568G>T	4.37:g.89042908C>A	ENSP00000237612:p.Glu190*		89261932	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Nonsense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	41	8.823638	0.98968	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.3157	19.1249	0.93378	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000237612:E190X	E	-	1	0	ABCG2	89261932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.782000	0.68973	2.618000	0.88619	0.655000	0.94253	GAA		0.398	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
ABCG2	9429	broad.mit.edu	37	4	89053728	89053728	+	Splice_Site	SNP	G	G	A	rs200415908		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89053728G>A	ENST00000237612.3	-	3	808	c.263C>T	c.(262-264)tCg>tTg	p.S88L	ABCG2_ENST00000515655.1_Splice_Site_p.S88L	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	88	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S88L(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TTATACTCACGAAGATTTGCC	0.388																																					p.S88L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C263T	4						.	G	LEU/SER	0,4406		0,0,2203	134.0	131.0	132.0		263	4.6	1.0	4		132	3,8597	3.0+/-9.4	0,3,4297	yes	missense-near-splice	ABCG2	NM_004827.2	145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	88/656	89053728	3,13003	2203	4300	6503	89272752	SO:0001630	splice_region_variant	9429	exon3			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.263+1C>T	4.37:g.89053728G>A			89272752	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514890	0.64634	0.0	3.49E-4	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	T;T;D;D	0.91945	0.94;0.94;-2.94;-2.94	5.41	4.57	0.56435	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89022	0.6597	L	0.60455	1.87	0.80722	D	1	B;B	0.32101	0.356;0.102	B;B	0.29598	0.104;0.064	D	0.86136	0.1578	9	.	.	.	5.1723	13.0487	0.58942	0.0787:0.0:0.9213:0.0	.	88;88	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	L	88;88;126;106	ENSP00000426917:S88L;ENSP00000237612:S88L;ENSP00000426916:S126L;ENSP00000426934:S106L	.	S	-	2	0	ABCG2	89272752	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	7.178000	0.77657	1.279000	0.44446	0.655000	0.94253	TCG		0.388	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	Missense_Mutation
HERC6	55008	broad.mit.edu	37	4	89334267	89334267	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89334267T>C	ENST00000264346.7	+	12	1466	c.1407T>C	c.(1405-1407)ctT>ctC	p.L469L	HERC6_ENST00000380265.5_Silent_p.L469L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	469					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L469P(1)|p.L469L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TCAGAGCTCTTCCATGCCATT	0.448																																					p.F469S												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.T1406C	4						.						247.0	240.0	242.0					4																	89334267		1959	4176	6135	89553290	SO:0001819	synonymous_variant	55008	exon12			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1407T>C	4.37:g.89334267T>C			89553290	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	CCDS47098.1																																																																																				0.448	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HERC5	51191	broad.mit.edu	37	4	89400527	89400527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89400527G>T	ENST00000264350.3	+	13	1759	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	HERC5_ENST00000508159.1_Nonsense_Mutation_p.E174*	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	536					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E536*(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AACTCTGCAAGAATCCACTTT	0.368																																					p.E536X	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1606T	4						.						100.0	101.0	101.0					4																	89400527		2203	4300	6503	89619550	SO:0001587	stop_gained	51191	exon13			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1606G>T	4.37:g.89400527G>T	ENSP00000264350:p.Glu536*		89619550	NM_016323	B2RTQ1|Q69G20	Nonsense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	37	6.067172	0.97251	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	.	.	.	4.82	3.05	0.35203	.	0.621864	0.14545	N	0.313007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	7.4493	0.27229	0.2017:0.0:0.7983:0.0	.	.	.	.	X	536;174	.	ENSP00000264350:E536X	E	+	1	0	HERC5	89619550	0.653000	0.27358	0.103000	0.21229	0.548000	0.35241	1.217000	0.32455	1.264000	0.44198	0.585000	0.79938	GAA		0.368	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
HERC5	51191	broad.mit.edu	37	4	89407319	89407319	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89407319C>A	ENST00000264350.3	+	14	1944	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L	HERC5_ENST00000508159.1_Silent_p.L235L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	597					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L597L(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TAGACGAACTCTTGCACCGTC	0.328																																					p.L597L	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1791A	4						.						135.0	137.0	136.0					4																	89407319		2203	4300	6503	89626342	SO:0001819	synonymous_variant	51191	exon14			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1791C>A	4.37:g.89407319C>A			89626342	NM_016323	B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	CCDS3630.1																																																																																				0.328	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
HERC5	51191	broad.mit.edu	37	4	89408265	89408265	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89408265C>T	ENST00000264350.3	+	15	2050	c.1897C>T	c.(1897-1899)Cca>Tca	p.P633S	HERC5_ENST00000508159.1_Missense_Mutation_p.P271S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	633					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.P633S(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CAGTCACTTTCCATTTATCTT	0.308																																					p.P633S	Esophageal Squamous(39;887 1012 34045 50514)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1897T	4						.						96.0	96.0	96.0					4																	89408265		2202	4299	6501	89627288	SO:0001583	missense	51191	exon15			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1897C>T	4.37:g.89408265C>T	ENSP00000264350:p.Pro633Ser		89627288	NM_016323	B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426906	0.25726	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.77229	-1.08;-1.08	4.33	3.44	0.39384	.	0.100279	0.41294	N	0.000903	T	0.74612	0.3739	M	0.73962	2.25	0.26300	N	0.977999	B	0.21147	0.052	B	0.22601	0.04	T	0.67031	-0.5773	10	0.45353	T	0.12	.	9.2924	0.37795	0.0:0.8843:0.0:0.1157	.	633	Q9UII4	HERC5_HUMAN	S	633;271	ENSP00000264350:P633S;ENSP00000424129:P271S	ENSP00000264350:P633S	P	+	1	0	HERC5	89627288	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	2.088000	0.41663	1.335000	0.45486	0.591000	0.81541	CCA		0.308	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323	
HERC3	8916	broad.mit.edu	37	4	89575195	89575195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89575195C>T	ENST00000402738.1	+	7	927	c.688C>T	c.(688-690)Cga>Tga	p.R230*	HERC3_ENST00000407637.1_Nonsense_Mutation_p.R230*|HERC3_ENST00000264345.3_Nonsense_Mutation_p.R230*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	230					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R230*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TATTCTAGATCGAGAATCTCC	0.368																																					p.R230X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C688T	4						.						79.0	81.0	80.0					4																	89575195		2203	4300	6503	89794218	SO:0001587	stop_gained	8916	exon7			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.688C>T	4.37:g.89575195C>T	ENSP00000385684:p.Arg230*		89794218	NM_014606	A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	38	6.802814	0.97849	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7502	0.91810	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000264345:R230X	R	+	1	2	HERC3	89794218	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.436000	0.52856	2.664000	0.90586	0.655000	0.94253	CGA		0.368	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
FAM13A	10144	broad.mit.edu	37	4	89689173	89689173	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89689173C>A	ENST00000264344.5	-	12	1703	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	FAM13A_ENST00000508369.1_Missense_Mutation_p.R173I|FAM13A_ENST00000511976.1_Missense_Mutation_p.R85I|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000395002.2_Missense_Mutation_p.R173I|FAM13A_ENST00000513837.1_Missense_Mutation_p.R145I|FAM13A_ENST00000503556.1_Missense_Mutation_p.R159I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	499					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R499I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGGTCCAGTTCTCTCATGAGA	0.373																																					p.R499I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496T	4						.						101.0	94.0	96.0					4																	89689173		2203	4300	6503	89908196	SO:0001583	missense	10144	exon12			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1496G>T	4.37:g.89689173C>A	ENSP00000264344:p.Arg499Ile		89908196	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956257	0.34565	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.60424	0.19;0.19;1.39;1.38;0.19;1.39	5.13	3.37	0.38596	.	0.492153	0.23789	N	0.044545	T	0.47875	0.1469	L	0.49350	1.555	0.21499	N	0.99967	B;B;B;B;B;B	0.18741	0.029;0.019;0.03;0.029;0.029;0.029	B;B;B;B;B;B	0.15052	0.012;0.011;0.005;0.012;0.012;0.012	T	0.36578	-0.9742	10	0.34782	T	0.22	.	8.9201	0.35605	0.0:0.7662:0.1542:0.0796	.	145;85;499;173;159;173	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	I	173;499;159;85;173;145	ENSP00000378450:R173I;ENSP00000264344:R499I;ENSP00000427189:R159I;ENSP00000421914:R85I;ENSP00000421562:R173I;ENSP00000423252:R145I	ENSP00000264344:R499I	R	-	2	0	FAM13A	89908196	0.550000	0.26489	0.002000	0.10522	0.006000	0.05464	1.125000	0.31332	0.718000	0.32166	-0.145000	0.13849	AGA		0.373	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
FAM13A	10144	broad.mit.edu	37	4	89772171	89772171	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89772171C>A	ENST00000264344.5	-	7	1214	c.1007G>T	c.(1006-1008)aGt>aTt	p.S336I	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	336					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S336I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACATGCCAACCTGGGTACCAA	0.443																																					p.S336I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007T	4						.						161.0	159.0	160.0					4																	89772171		2203	4300	6503	89991194	SO:0001630	splice_region_variant	10144	exon7			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1007+1G>T	4.37:g.89772171C>A			89991194	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715251	0.30413	.	.	ENSG00000138640	ENST00000264344	T	0.65916	-0.18	4.33	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.50333	1.59	0.80722	D	1	B	0.27997	0.197	B	0.21708	0.036	T	0.45205	-0.9277	9	.	.	.	.	8.7696	0.34724	0.0:0.8961:0.0:0.1039	.	336	O94988	FA13A_HUMAN	I	336	ENSP00000264344:S336I	.	S	-	2	0	FAM13A	89991194	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	2.051000	0.41307	1.384000	0.46424	0.650000	0.86243	AGT		0.443	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		Missense_Mutation
FAM13A	10144	broad.mit.edu	37	4	89827559	89827559	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:89827559C>A	ENST00000264344.5	-	6	1021	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	FAM13A_ENST00000511976.1_Missense_Mutation_p.D63Y|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	272					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D272Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TTTGGCATGTCTCTTTCTAAG	0.358																																					p.D272Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814T	4						.						329.0	346.0	340.0					4																	89827559		2203	4300	6503	90046582	SO:0001583	missense	10144	exon6			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.814G>T	4.37:g.89827559C>A	ENSP00000264344:p.Asp272Tyr		90046582	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797973	0.31777	.	.	ENSG00000138640	ENST00000264344;ENST00000511976	T;T	0.32753	2.19;1.44	4.42	3.58	0.41010	.	0.527164	0.17286	N	0.179825	T	0.19167	0.0460	N	0.08118	0	0.33780	D	0.624114	P;P	0.48407	0.693;0.91	P;P	0.45946	0.478;0.498	T	0.24225	-1.0166	10	0.59425	D	0.04	.	8.6759	0.34179	0.0:0.8978:0.0:0.1022	.	63;272	E9PGM7;O94988	.;FA13A_HUMAN	Y	272;63	ENSP00000264344:D272Y;ENSP00000421914:D63Y	ENSP00000264344:D272Y	D	-	1	0	FAM13A	90046582	0.990000	0.36364	0.209000	0.23619	0.852000	0.48524	1.766000	0.38491	1.451000	0.47736	0.655000	0.94253	GAC		0.358	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
GPRIN3	285513	broad.mit.edu	37	4	90169765	90169765	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:90169765C>T	ENST00000609438.1	-	2	2015	c.1497G>A	c.(1495-1497)acG>acA	p.T499T	GPRIN3_ENST00000333209.4_Silent_p.T499T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	499								p.T499T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGCCGTTTGTCGTTTTCTCTG	0.448																																					p.T499T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1497A	4						.						96.0	104.0	101.0					4																	90169765		2203	4300	6503	90388788	SO:0001819	synonymous_variant	285513	exon2			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1497G>A	4.37:g.90169765C>T			90388788	NM_198281	Q8IVE4	Silent	SNP	ENST00000609438.1	37	CCDS34030.1																																																																																				0.448	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
MMRN1	22915	broad.mit.edu	37	4	90816604	90816604	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:90816604G>A	ENST00000394980.1	+	2	801	c.482G>A	c.(481-483)gGc>gAc	p.G161D	MMRN1_ENST00000264790.2_Missense_Mutation_p.G161D|MMRN1_ENST00000394981.1_Missense_Mutation_p.G127D			Q13201	MMRN1_HUMAN	multimerin 1	161					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.G161D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTtggaggcactggaggc	0.512																																					p.G161D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	4						.						61.0	63.0	62.0					4																	90816604		2203	4300	6503	91035627	SO:0001583	missense	22915	exon1			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.482G>A	4.37:g.90816604G>A	ENSP00000378431:p.Gly161Asp		91035627	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244700	0.39697	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.73469	-0.04;-0.04;-0.75	2.8	1.93	0.25924	.	.	.	.	.	T	0.68449	0.3002	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.994	D;D	0.70487	0.969;0.931	T	0.56792	-0.7920	9	0.45353	T	0.12	.	7.0407	0.25019	0.0:0.0:0.7303:0.2697	.	127;161	Q13201-2;Q13201	.;MMRN1_HUMAN	D	161;161;127	ENSP00000378431:G161D;ENSP00000264790:G161D;ENSP00000378432:G127D	ENSP00000264790:G161D	G	+	2	0	MMRN1	91035627	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.174000	0.16743	0.732000	0.32470	0.563000	0.77884	GGC		0.512	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90849027	90849027	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:90849027C>T	ENST00000394980.1	+	6	1356	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	MMRN1_ENST00000264790.2_Missense_Mutation_p.S346F|MMRN1_ENST00000508372.1_Missense_Mutation_p.S88F|MMRN1_ENST00000394981.1_Missense_Mutation_p.S312F			Q13201	MMRN1_HUMAN	multimerin 1	346					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.S346F(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACAATATTTCTTTGACTGTG	0.358																																					p.S346F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1037T	4						.						106.0	117.0	113.0					4																	90849027		2203	4300	6503	91068050	SO:0001583	missense	22915	exon5			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1037C>T	4.37:g.90849027C>T	ENSP00000378431:p.Ser346Phe		91068050	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226023	0.39300	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.72835	0.0;0.0;-0.69;-0.36	5.11	5.11	0.69529	.	0.167236	0.41823	D	0.000819	D	0.82300	0.5007	L	0.58101	1.795	0.29819	N	0.830974	D;P	0.76494	0.999;0.926	D;B	0.73380	0.98;0.33	T	0.79063	-0.1957	10	0.66056	D	0.02	.	19.4148	0.94690	0.0:1.0:0.0:0.0	.	312;346	Q13201-2;Q13201	.;MMRN1_HUMAN	F	346;346;312;88	ENSP00000378431:S346F;ENSP00000264790:S346F;ENSP00000378432:S312F;ENSP00000426461:S88F	ENSP00000264790:S346F	S	+	2	0	MMRN1	91068050	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	3.462000	0.53042	2.747000	0.94245	0.585000	0.79938	TCT		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90857043	90857043	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:90857043G>T	ENST00000394980.1	+	7	2531	c.2212G>T	c.(2212-2214)Gct>Tct	p.A738S	MMRN1_ENST00000264790.2_Missense_Mutation_p.A738S|MMRN1_ENST00000508372.1_Missense_Mutation_p.A480S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	738					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.A738S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATAAATAATGCTATTGATTT	0.338																																					p.A738S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2212T	4						.						59.0	61.0	60.0					4																	90857043		2203	4298	6501	91076066	SO:0001583	missense	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2212G>T	4.37:g.90857043G>T	ENSP00000378431:p.Ala738Ser		91076066	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472575	0.63737	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.76968	-0.82;-0.82;-1.06	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	D	0.87148	0.6105	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84729	0.0744	10	0.34782	T	0.22	.	19.6319	0.95708	0.0:0.0:1.0:0.0	.	738	Q13201	MMRN1_HUMAN	S	738;738;480	ENSP00000378431:A738S;ENSP00000264790:A738S;ENSP00000426461:A480S	ENSP00000264790:A738S	A	+	1	0	MMRN1	91076066	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.326000	0.72905	2.805000	0.96524	0.655000	0.94253	GCT		0.338	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
MMRN1	22915	broad.mit.edu	37	4	90857560	90857560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:90857560C>A	ENST00000394980.1	+	7	3048	c.2729C>A	c.(2728-2730)tCt>tAt	p.S910Y	MMRN1_ENST00000264790.2_Missense_Mutation_p.S910Y|MMRN1_ENST00000508372.1_Missense_Mutation_p.S652Y|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	910					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.S910Y(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGCAAAATCTATCCATCTT	0.348																																					p.S910Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2729A	4						.						71.0	73.0	72.0					4																	90857560		2203	4300	6503	91076583	SO:0001583	missense	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2729C>A	4.37:g.90857560C>A	ENSP00000378431:p.Ser910Tyr		91076583	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236412	0.58886	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.73789	-0.5;-0.5;-0.78	5.3	5.3	0.74995	.	0.078137	0.56097	D	0.000033	D	0.85745	0.5768	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86160	0.1593	10	0.72032	D	0.01	.	19.852	0.96744	0.0:1.0:0.0:0.0	.	910	Q13201	MMRN1_HUMAN	Y	910;910;652	ENSP00000378431:S910Y;ENSP00000264790:S910Y;ENSP00000426461:S652Y	ENSP00000264790:S910Y	S	+	2	0	MMRN1	91076583	0.998000	0.40836	0.995000	0.50966	0.635000	0.38103	5.012000	0.64017	2.861000	0.98227	0.655000	0.94253	TCT		0.348	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
CCSER1	401145	broad.mit.edu	37	4	91229835	91229835	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:91229835G>A	ENST00000509176.1	+	2	688	c.400G>A	c.(400-402)Gat>Aat	p.D134N	CCSER1_ENST00000333691.8_Missense_Mutation_p.D134N|CCSER1_ENST00000432775.2_Missense_Mutation_p.D134N	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	134								p.D134N(1)									TTTGACAGAGGATTTTGAAAG	0.363																																					p.D134N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400A	4						.						53.0	53.0	53.0					4																	91229835		1825	4079	5904	91448858	SO:0001583	missense	401145	exon2				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.400G>A	4.37:g.91229835G>A	ENSP00000425040:p.Asp134Asn		91448858	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207897	0.79240	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.58940	0.78;0.3;0.78	5.18	4.34	0.51931	.	0.107097	0.64402	N	0.000012	T	0.69251	0.3090	L	0.46157	1.445	0.41149	D	0.986019	D;B;B	0.89917	1.0;0.197;0.36	D;B;B	0.77004	0.989;0.09;0.181	T	0.73202	-0.4057	10	0.72032	D	0.01	-22.0979	14.4529	0.67397	0.0717:0.0:0.9283:0.0	.	134;134;134	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	N	134	ENSP00000425040:D134N;ENSP00000389283:D134N;ENSP00000329482:D134N	ENSP00000329482:D134N	D	+	1	0	FAM190A	91448858	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.190000	0.77755	1.508000	0.48769	0.655000	0.94253	GAT		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
CCSER1	401145	broad.mit.edu	37	4	91760123	91760123	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:91760123C>T	ENST00000509176.1	+	8	2382				CCSER1_ENST00000333691.8_Intron	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1									p.E22E(1)									TCTCTTGCGTCTCTGTCTTCT	0.507																																					p.E22E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G66A	4						.						122.0	132.0	128.0					4																	91760123		1510	2708	4218	91979146	SO:0001627	intron_variant	7117	exon1				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2094+23127C>T	4.37:g.91760123C>T			91979146	NM_183049	Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	CCDS47099.1																																																																																				0.507	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
GRID2	2895	broad.mit.edu	37	4	93511326	93511326	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:93511326C>T	ENST00000282020.4	+	2	391	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GRID2_ENST00000510992.1_Missense_Mutation_p.R45C|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	45					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.R45C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGAGGTATTTCGCACTGCGGT	0.383																																					p.R45C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C133T	4						.						121.0	116.0	118.0					4																	93511326		2203	4300	6503	93730349	SO:0001583	missense	2895	exon2			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.133C>T	4.37:g.93511326C>T	ENSP00000282020:p.Arg45Cys		93730349	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488961	0.84962	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.87029	-1.79;-2.2	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.389572	0.22276	N	0.062185	D	0.89760	0.6808	N	0.22421	0.69	0.47621	D	0.999476	D;D	0.89917	0.999;1.0	P;D	0.71184	0.897;0.972	D	0.90821	0.4709	10	0.87932	D	0	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	45;45	E9PH24;O43424	.;GRID2_HUMAN	C	45	ENSP00000282020:R45C;ENSP00000421257:R45C	ENSP00000282020:R45C	R	+	1	0	GRID2	93730349	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.757000	0.94681	0.563000	0.77884	CGC		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
GRID2	2895	broad.mit.edu	37	4	94006399	94006399	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:94006399G>A	ENST00000282020.4	+	3	756	c.498G>A	c.(496-498)caG>caA	p.Q166Q	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	166					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.Q166Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATGCCTGGCAGAAATTCATTA	0.378																																					p.Q166Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G498A	4						.						103.0	105.0	104.0					4																	94006399		2203	4300	6503	94225422	SO:0001819	synonymous_variant	2895	exon3			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.498G>A	4.37:g.94006399G>A			94225422	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.378	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
GRID2	2895	broad.mit.edu	37	4	94547443	94547443	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:94547443C>T	ENST00000282020.4	+	14	2475	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	GRID2_ENST00000510992.1_Silent_p.F644F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	739					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.F739F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATTATGCTTTCGTATGGGATG	0.343																																					p.F739F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2217T	4						.						134.0	124.0	128.0					4																	94547443		2203	4300	6503	94766466	SO:0001819	synonymous_variant	2895	exon14			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2217C>T	4.37:g.94547443C>T			94766466	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	CCDS3637.1																																																																																				0.343	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
SMARCAD1	56916	broad.mit.edu	37	4	95204387	95204387	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:95204387G>T	ENST00000354268.4	+	22	2915	c.2842G>T	c.(2842-2844)Gat>Tat	p.D948Y	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D518Y|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D950Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	948	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.D948Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TATACTTCACGATATTGACTG	0.328																																					p.D950Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2848T	4						.						120.0	119.0	119.0					4																	95204387		2203	4300	6503	95423410	SO:0001583	missense	56916	exon22			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2842G>T	4.37:g.95204387G>T	ENSP00000346217:p.Asp948Tyr		95423410	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953517	0.73902	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.48	4.63	0.57726	Helicase, C-terminal (3);	0.000000	0.51477	D	0.000092	D	0.95683	0.8596	H	0.99842	4.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98021	1.0371	10	0.87932	D	0	-25.2621	16.3066	0.82849	0.0:0.1325:0.8675:0.0	.	948;950	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	950;950;948;518	ENSP00000351947:D950Y;ENSP00000415576:D950Y;ENSP00000346217:D948Y;ENSP00000423286:D518Y	ENSP00000346217:D948Y	D	+	1	0	SMARCAD1	95423410	1.000000	0.71417	0.820000	0.32676	0.838000	0.47535	9.827000	0.99397	1.302000	0.44855	0.591000	0.81541	GAT		0.328	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
PDLIM5	10611	broad.mit.edu	37	4	95496996	95496996	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:95496996T>C	ENST00000317968.4	+	5	657	c.521T>C	c.(520-522)tTc>tCc	p.F174S	PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000508216.1_Intron|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000450793.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000380180.3_Intron|PDLIM5_ENST00000542407.1_Missense_Mutation_p.F52S	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	174					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.F174S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCTCCCCTGTTCGCTGCATCT	0.572																																					p.F174S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T521C	4						.						202.0	158.0	173.0					4																	95496996		2203	4300	6503	95716019	SO:0001583	missense	10611	exon5			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.521T>C	4.37:g.95496996T>C	ENSP00000321746:p.Phe174Ser		95716019	NM_006457	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Intron	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	T	9.779	1.174690	0.21704	.	.	ENSG00000163110	ENST00000317968;ENST00000542407	T;T	0.57436	0.81;0.4	4.71	2.29	0.28610	.	0.491479	0.21433	N	0.074613	T	0.40040	0.1101	L	0.51422	1.61	0.21325	N	0.999728	B	0.06786	0.001	B	0.08055	0.003	T	0.23226	-1.0194	10	0.22109	T	0.4	.	5.9816	0.19411	0.0:0.1505:0.1383:0.7112	.	174	Q96HC4	PDLI5_HUMAN	S	174;52	ENSP00000321746:F174S;ENSP00000442187:F52S	ENSP00000321746:F174S	F	+	2	0	PDLIM5	95716019	0.608000	0.26966	0.124000	0.21820	0.872000	0.50106	0.978000	0.29488	0.287000	0.22375	0.533000	0.62120	TTC		0.572	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
PDHA2	5161	broad.mit.edu	37	4	96761853	96761853	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:96761853C>T	ENST00000295266.4	+	1	615	c.552C>T	c.(550-552)aaC>aaT	p.N184N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	184					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATAAAGGAAACGATGAGATCT	0.483																																					p.N184N												.	.	3	Substitution - coding silent(3)	prostate(1)|large_intestine(1)|lung(1)	c.C552T	4						.						61.0	66.0	64.0					4																	96761853		2203	4300	6503	96980876	SO:0001819	synonymous_variant	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.552C>T	4.37:g.96761853C>T			96980876	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	CCDS3644.1																																																																																				0.483	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
PDHA2	5161	broad.mit.edu	37	4	96762427	96762427	+	Missense_Mutation	SNP	C	C	T	rs17024795	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:96762427C>T	ENST00000295266.4	+	1	1189	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	376			R -> G (in dbSNP:rs17024795).		glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R376C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTTTGAAGTTCGTGGTGCAAA	0.413																																					p.R376C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1126T	4						.						113.0	102.0	106.0					4																	96762427		2203	4300	6503	96981450	SO:0001583	missense	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1126C>T	4.37:g.96762427C>T	ENSP00000295266:p.Arg376Cys		96981450	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339268	0.41398	.	.	ENSG00000163114	ENST00000295266	T	0.79454	-1.27	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.85542	2.76	0.09310	P	0.99999999567229	D	0.89917	1.0	D	0.91635	0.999	D	0.91106	0.4918	9	0.87932	D	0	-19.3113	10.8551	0.46794	0.188:0.812:0.0:0.0	.	376	P29803	ODPAT_HUMAN	C	376	ENSP00000295266:R376C	ENSP00000295266:R376C	R	+	1	0	PDHA2	96981450	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.262000	0.51538	2.695000	0.91970	0.563000	0.77884	CGT		0.413	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
STPG2	285555	broad.mit.edu	37	4	98761993	98761993	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:98761993C>T	ENST00000295268.3	-	9	1224	c.1135G>A	c.(1135-1137)Gct>Act	p.A379T	STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	379								p.A379T(1)									TTTCTTTTAGCCACTAAACTA	0.408																																					p.A379T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1135A	4						.						102.0	107.0	105.0					4																	98761993		2203	4299	6502	98981016	SO:0001583	missense	285555	exon9			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1135G>A	4.37:g.98761993C>T	ENSP00000295268:p.Ala379Thr		98981016	NM_174952		Missense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096110	0.76870	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.48836	0.8;2.65	5.47	5.47	0.80525	.	0.239038	0.34484	N	0.003926	T	0.67618	0.2912	M	0.66939	2.045	0.33994	D	0.649461	D	0.89917	1.0	D	0.78314	0.991	T	0.74121	-0.3767	10	0.42905	T	0.14	-9.5624	18.0973	0.89494	0.0:1.0:0.0:0.0	.	379	Q8N412	CD037_HUMAN	T	93;379	ENSP00000428346:A93T;ENSP00000295268:A379T	ENSP00000295268:A379T	A	-	1	0	C4orf37	98981016	0.987000	0.35691	0.582000	0.28627	0.936000	0.57629	4.222000	0.58580	2.578000	0.87016	0.585000	0.79938	GCT		0.408	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	
RAP1GDS1	5910	broad.mit.edu	37	4	99341286	99341286	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:99341286G>T	ENST00000408927.3	+	11	1404	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.D340Y|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.D432Y|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.D432Y|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.D383Y|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.D382Y	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	431					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.D432Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AATGTTAATAGATGCACAAGG	0.353			T	NUP98	T-ALL																																p.D383Y			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147T	4						.						71.0	67.0	68.0					4																	99341286		1813	4075	5888	99560309	SO:0001583	missense	5910	exon10				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1291G>T	4.37:g.99341286G>T	ENSP00000386153:p.Asp431Tyr		99560309	NM_001100428	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.253624|4.253624	0.80135|0.80135	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.53423|.	2.68;2.68;2.68;0.62;2.68;2.68|.	6.06|6.06	5.22|5.22	0.72569|0.72569	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.996;0.998;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.999;0.998;0.996;0.953;0.929;0.996|.	T|T	0.74054|0.74054	-0.3788|-0.3788	10|5	0.59425|.	D|.	0.04|.	-14.8147|-14.8147	15.57|15.57	0.76326|0.76326	0.066:0.0:0.934:0.0|0.066:0.0:0.934:0.0	.|.	340;382;383;431;432;432|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	Y|I	383;340;431;432;382;432|240	ENSP00000369503:D383Y;ENSP00000264572:D340Y;ENSP00000386153:D431Y;ENSP00000407157:D432Y;ENSP00000386223:D382Y;ENSP00000340454:D432Y|.	ENSP00000264572:D340Y|.	D|R	+|+	1|2	0|0	RAP1GDS1|RAP1GDS1	99560309|99560309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.433000|9.433000	0.97501|0.97501	1.566000|1.566000	0.49654|0.49654	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.353	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
FRG2	448831	broad.mit.edu	37	4	190948282	190948282	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:190948282C>A	ENST00000378763.1	-	1	130	c.78G>T	c.(76-78)caG>caT	p.Q26H	FRG2_ENST00000504750.1_Missense_Mutation_p.Q26H	NM_001005217.1|NM_001199232.1	NP_001005217.1|NP_001186161.1	Q64ET8	FRG2_HUMAN	FSHD region gene 2	26						nucleus (GO:0005634)		p.Q26H(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		TAAAGGAGATCTGTTGGAAAG	0.488																																					p.Q26H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G78T	4						.																																			191185276	SO:0001583	missense	448831	exon1				CCDS34123.1, CCDS68834.1	4q35.2	2014-09-04			ENSG00000205097	ENSG00000205097			19136	protein-coding gene	gene with protein product		609032				12176321, 15520407	Standard	NM_001005217		Approved	FRG2A		Q64ET8	OTTHUMG00000160339	ENST00000378763.1:c.78G>T	4.37:g.190948282C>A	ENSP00000368039:p.Gln26His		191185276	NM_001199232	B7ZMJ1|E7EN36	Missense_Mutation	SNP	ENST00000378763.1	37	CCDS34123.1	.	.	.	.	.	.	.	.	.	.	.	5.659	0.306178	0.10733	.	.	ENSG00000205097	ENST00000504750;ENST00000378763	T;T	0.34472	1.36;1.36	0.352	0.352	0.16051	.	.	.	.	.	T	0.27205	0.0667	L	0.27053	0.805	0.09310	N	1	B;B	0.31351	0.32;0.32	B;B	0.38056	0.264;0.264	T	0.35325	-0.9793	8	0.72032	D	0.01	-2.6534	.	.	.	.	26;26	E7EN36;Q64ET8	.;FRG2_HUMAN	H	26	ENSP00000424015:Q26H;ENSP00000368039:Q26H	ENSP00000368039:Q26H	Q	-	3	2	FRG2	191185276	0.896000	0.30565	0.001000	0.08648	0.001000	0.01503	-0.305000	0.08188	0.423000	0.26033	0.423000	0.28283	CAG		0.488	FRG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360294.1	NM_001005217	
WWC3	55841	broad.mit.edu	37	X	10047833	10047833	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10047833G>T	ENST00000380861.4	+	5	757	c.366G>T	c.(364-366)gaG>gaT	p.E122D	WWC3_ENST00000454666.1_Missense_Mutation_p.E122D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	122					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.E122D(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGGGGGTGGAGACCCTGCAAG	0.423																																					p.E122D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G366T	X						.						75.0	64.0	67.0					X																	10047833		2203	4300	6503	10007833	SO:0001583	missense	55841	exon5			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.366G>T	X.37:g.10047833G>T	ENSP00000370242:p.Glu122Asp		10007833	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092159	0.76756	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05786	3.39;3.39	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.42245	1.32	0.48395	D	0.99964	P	0.51147	0.942	P	0.54815	0.761	T	0.18335	-1.0340	10	0.23891	T	0.37	-33.0699	7.7635	0.28965	0.1844:0.0:0.8156:0.0	.	122	Q9ULE0	WWC3_HUMAN	D	122	ENSP00000370242:E122D;ENSP00000399584:E122D	ENSP00000370242:E122D	E	+	3	2	WWC3	10007833	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.283000	0.65621	2.366000	0.80165	0.544000	0.68410	GAG		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
DRP2	1821	broad.mit.edu	37	X	100503513	100503513	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100503513G>A	ENST00000395209.3	+	14	1992	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	DRP2_ENST00000402866.1_Missense_Mutation_p.G489R|DRP2_ENST00000538510.1_Missense_Mutation_p.G489R|DRP2_ENST00000541709.1_Missense_Mutation_p.G411R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	489					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G486R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTCGCAGCGGAAAGATGCG	0.433																																					p.G489R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1465A	X						.						247.0	232.0	237.0					X																	100503513		2203	4300	6503	100390169	SO:0001583	missense	1821	exon14			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1465G>A	X.37:g.100503513G>A	ENSP00000378635:p.Gly489Arg		100390169	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564325	0.86335	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.07	5.07	0.68467	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94917	0.8070	10	0.87932	D	0	-10.0215	17.6826	0.88248	0.0:0.0:1.0:0.0	.	489	Q13474	DRP2_HUMAN	R	489;489;411;489	ENSP00000385038:G489R;ENSP00000378635:G489R;ENSP00000444752:G411R;ENSP00000441051:G489R	ENSP00000378635:G489R	G	+	1	0	DRP2	100390169	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.104000	0.64026	0.513000	0.50165	GGA		0.433	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
BTK	695	broad.mit.edu	37	X	100608290	100608290	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100608290T>C	ENST00000308731.7	-	18	1963	c.1800A>G	c.(1798-1800)agA>agG	p.R600R	BTK_ENST00000372880.1_Silent_p.R424R	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.R600R(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTTAGTAAATCTCTCATATG	0.418									Agammaglobulinemia, X-linked																												p.R600R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1800G	X						.						236.0	212.0	220.0					X																	100608290		2203	4300	6503	100494946	SO:0001819	synonymous_variant	695	exon18	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1800A>G	X.37:g.100608290T>C			100494946	NM_000061	B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	CCDS14482.1																																																																																				0.418	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
BTK	695	broad.mit.edu	37	X	100612498	100612498	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100612498G>A	ENST00000308731.7	-	13	1339	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	392					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.Y392Y(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGAGTTACCGTATCCCAGGC	0.493									Agammaglobulinemia, X-linked																												p.Y392Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1176T	X	GRCh37	CM015165	BTK	M		.						265.0	195.0	219.0					X																	100612498		2203	4300	6503	100499154	SO:0001630	splice_region_variant	695	exon13	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1177+1C>T	X.37:g.100612498G>A			100499154	NM_000061	B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	CCDS14482.1																																																																																				0.493	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Silent
BTK	695	broad.mit.edu	37	X	100613405	100613405	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100613405C>T	ENST00000308731.7	-	12	1158	c.995G>A	c.(994-996)cGt>cAt	p.R332H	BTK_ENST00000372880.1_Missense_Mutation_p.R332H	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	332	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.R332H(2)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AACATAATGACGTATCACCCC	0.478									Agammaglobulinemia, X-linked																												p.R332H												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G995A	X						.						164.0	137.0	147.0					X																	100613405		2203	4300	6503	100500061	SO:0001583	missense	695	exon12	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.995G>A	X.37:g.100613405C>T	ENSP00000308176:p.Arg332His		100500061	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357494	0.82243	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D;D	0.88818	-2.43;-2.43	6.06	6.06	0.98353	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.64676	1.99	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	P;D;D;D	0.77557	0.814;0.99;0.982;0.98	D	0.94009	0.7282	10	0.87932	D	0	.	19.1109	0.93315	0.0:1.0:0.0:0.0	.	3;332;332;332	Q3MS94;Q5JY90;B2RAW1;Q06187	.;.;.;BTK_HUMAN	H	332;3;3;1;3;3;3;332;2	ENSP00000361971:R332H;ENSP00000308176:R332H	ENSP00000308176:R332H	R	-	2	0	BTK	100500061	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.571000	0.60879	2.562000	0.86427	0.600000	0.82982	CGT		0.478	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
BTK	695	broad.mit.edu	37	X	100629581	100629581	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100629581G>T	ENST00000308731.7	-	3	346	c.183C>A	c.(181-183)atC>atA	p.I61I	BTK_ENST00000372880.1_Silent_p.I61I|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	61	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		I -> N (in XLA). {ECO:0000269|PubMed:9445504}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.I61I(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAACACAAGTGATCTTCTCAA	0.408									Agammaglobulinemia, X-linked																												p.I61I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183A	X						.						245.0	231.0	236.0					X																	100629581		2203	4300	6503	100516237	SO:0001819	synonymous_variant	695	exon3	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.183C>A	X.37:g.100629581G>T			100516237	NM_000061	B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	CCDS14482.1																																																																																				0.408	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
HNRNPH2	3188	broad.mit.edu	37	X	100668018	100668018	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100668018G>T	ENST00000316594.5	+	2	1120	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	348	2 X 16 AA Gly-rich approximate repeats.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D348Y(1)		breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TATGGCAAAAGACAAAGCTAA	0.423																																					p.D348Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1042T	X						.						108.0	96.0	100.0					X																	100668018		2203	4300	6503	100554674	SO:0001583	missense	3188	exon2			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1042G>T	X.37:g.100668018G>T	ENSP00000361927:p.Asp348Tyr		100554674	NM_019597	A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551521	0.45487	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.34472	1.36	4.62	3.74	0.42951	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.62765	-0.6785	10	0.87932	D	0	-19.9042	11.5945	0.50964	0.0:0.1771:0.8229:0.0	.	348	P55795	HNRH2_HUMAN	Y	303;348	ENSP00000361927:D348Y	ENSP00000361927:D348Y	D	+	1	0	HNRNPH2	100554674	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.562000	0.98145	1.055000	0.40461	0.513000	0.50165	GAC		0.423	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597	
CLCN4	1183	broad.mit.edu	37	X	10176600	10176600	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10176600C>T	ENST00000380833.4	+	9	1750	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	CLCN4_ENST00000421085.2_Silent_p.I359I|CLCN4_ENST00000380829.1_Silent_p.I422I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	453					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I453I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTTCAAAATCGTCGTTACCA	0.537																																					p.I453I	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359T	X						.						66.0	65.0	65.0					X																	10176600		2203	4295	6498	10136600	SO:0001819	synonymous_variant	1183	exon9			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1359C>T	X.37:g.10176600C>T			10136600	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Silent	SNP	ENST00000380833.4	37	CCDS14137.1																																																																																				0.537	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
CLCN4	1183	broad.mit.edu	37	X	10188805	10188805	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10188805C>T	ENST00000380833.4	+	12	2471	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	CLCN4_ENST00000421085.2_Missense_Mutation_p.R600W|CLCN4_ENST00000380829.1_Missense_Mutation_p.R663W	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	694					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R694W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGAAGCTGCGGCGCATCCT	0.597																																					p.R694W	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2080T	X						.						140.0	113.0	122.0					X																	10188805		2203	4300	6503	10148805	SO:0001583	missense	1183	exon12			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2080C>T	X.37:g.10188805C>T	ENSP00000370213:p.Arg694Trp		10148805	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	18.79	3.699492	0.68501	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94232	-3.38;-3.38;-3.38	5.36	-0.865	0.10662	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95974	0.8972	10	0.87932	D	0	-36.9511	18.091	0.89475	0.4915:0.5085:0.0:0.0	.	694	P51793	CLCN4_HUMAN	W	694;663;600	ENSP00000370213:R694W;ENSP00000370209:R663W;ENSP00000405754:R600W	ENSP00000370209:R663W	R	+	1	2	CLCN4	10148805	1.000000	0.71417	0.972000	0.41901	0.912000	0.54170	1.473000	0.35387	-0.451000	0.07097	-0.950000	0.02660	CGG		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
ARMCX3	51566	broad.mit.edu	37	X	100880063	100880063	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:100880063A>T	ENST00000341189.4	+	5	960	c.94A>T	c.(94-96)Aaa>Taa	p.K32*	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Nonsense_Mutation_p.K32*|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Nonsense_Mutation_p.K32*	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	32					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)		p.K32*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TAGGGGAAGAAAACAGAACAA	0.527																																					p.K32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A94T	X						.						88.0	86.0	86.0					X																	100880063		2203	4300	6503	100766719	SO:0001587	stop_gained	51566	exon5			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.94A>T	X.37:g.100880063A>T	ENSP00000340672:p.Lys32*		100766719	NM_177948	Q53HC6|Q7LCF5|Q9NPE4	Nonsense_Mutation	SNP	ENST00000341189.4	37	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	A	36	5.802021	0.96960	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	.	.	.	4.36	3.16	0.36331	.	0.408970	0.28225	N	0.016125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-17.6618	6.9349	0.24461	0.7675:0.2325:0.0:0.0	.	.	.	.	X	32	.	ENSP00000340672:K32X	K	+	1	0	ARMCX3	100766719	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.950000	0.56676	0.767000	0.33267	0.481000	0.45027	AAA		0.527	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607	
GPRASP2	114928	broad.mit.edu	37	X	101969951	101969951	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:101969951A>C	ENST00000535209.1	+	4	985	c.154A>C	c.(154-156)Act>Cct	p.T52P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.T52P|GPRASP2_ENST00000543253.1_Missense_Mutation_p.T52P			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	52						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.T52P(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGGCCCAAAACTGAGACCAA	0.567																																					p.T52P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A154C	X						.						109.0	99.0	102.0					X																	101969951		2203	4300	6503	101856607	SO:0001583	missense	114928	exon5			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.154A>C	X.37:g.101969951A>C	ENSP00000437394:p.Thr52Pro		101856607	NM_001004051	D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042371	0.55003	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08282	3.11;3.11;3.11	4.82	2.15	0.27550	.	0.000000	0.45361	D	0.000378	T	0.07188	0.0182	L	0.27053	0.805	0.32598	N	0.526247	P	0.52316	0.952	P	0.49140	0.601	T	0.27905	-1.0060	10	0.24483	T	0.36	.	5.5028	0.16838	0.6542:0.1742:0.0:0.1716	.	52	Q96D09	GASP2_HUMAN	P	52	ENSP00000437872:T52P;ENSP00000437394:T52P;ENSP00000339057:T52P	ENSP00000339057:T52P	T	+	1	0	GPRASP2	101856607	0.026000	0.19158	0.998000	0.56505	0.833000	0.47200	0.126000	0.15769	0.714000	0.32081	0.430000	0.28490	ACT		0.567	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
GPRASP2	114928	broad.mit.edu	37	X	101970983	101970983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:101970983G>T	ENST00000535209.1	+	4	2017	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.E396*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.E396*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	396						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.E396*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCAGAAAAAGAGGCCAGTTT	0.527																																					p.E396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1186T	X						.						60.0	62.0	61.0					X																	101970983		2203	4300	6503	101857639	SO:0001587	stop_gained	114928	exon5			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1186G>T	X.37:g.101970983G>T	ENSP00000437394:p.Glu396*		101857639	NM_001004051	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	42	9.206793	0.99099	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.44	4.44	0.53790	.	0.000000	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.365	0.26768	0.1155:0.0:0.8845:0.0	.	.	.	.	X	396	.	ENSP00000339057:E396X	E	+	1	0	GPRASP2	101857639	1.000000	0.71417	0.986000	0.45419	0.883000	0.51084	5.441000	0.66569	2.458000	0.83093	0.600000	0.82982	GAG		0.527	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
GPRASP2	114928	broad.mit.edu	37	X	101971499	101971499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:101971499C>T	ENST00000535209.1	+	4	2533	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.R568*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	568						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.R568*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGGGAAATTCGAGAGCATCT	0.483																																					p.R568X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1702T	X						.						99.0	94.0	96.0					X																	101971499		2203	4300	6503	101858155	SO:0001587	stop_gained	114928	exon5			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1702C>T	X.37:g.101971499C>T	ENSP00000437394:p.Arg568*		101858155	NM_001004051	D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	42	9.193336	0.99096	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.33	3.46	0.39613	.	0.000000	0.39615	N	0.001319	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5543	0.33471	0.229:0.771:0.0:0.0	.	.	.	.	X	568	.	ENSP00000339057:R568X	R	+	1	2	GPRASP2	101858155	1.000000	0.71417	0.989000	0.46669	0.815000	0.46073	0.913000	0.28611	1.162000	0.42619	0.600000	0.82982	CGA		0.483	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
NXF3	56000	broad.mit.edu	37	X	102334943	102334943	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:102334943C>A	ENST00000395065.3	-	12	1151	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	NXF3_ENST00000425644.1_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	350	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.Q350H(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATACTTACTGCTGCAGGAATT	0.483																																					p.Q350H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1050T	X						.						170.0	168.0	169.0					X																	102334943		2203	4300	6503	102221599	SO:0001583	missense	56000	exon12			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1050G>T	X.37:g.102334943C>A	ENSP00000378504:p.Gln350His		102221599	NM_022052	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	CCDS14503.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.577|8.577	0.881365|0.881365	0.17467|0.17467	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000427570|ENST00000395065	.|T	.|0.63096	.|-0.02	4.44|4.44	-0.61|-0.61	0.11604|0.11604	.|Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	.|0.701713	.|0.14481	.|N	.|0.316928	T|T	0.62048|0.62048	0.2396|0.2396	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23128	.|0.027;0.08	.|B;B	.|0.24394	.|0.012;0.053	T|T	0.56312|0.56312	-0.8000|-0.8000	5|10	.|0.51188	.|T	.|0.08	-3.3183|-3.3183	4.0231|4.0231	0.09675|0.09675	0.0:0.3753:0.1795:0.4451|0.0:0.3753:0.1795:0.4451	.|.	.|246;350	.|E9PEY7;Q9H4D5	.|.;NXF3_HUMAN	S|H	227|350	.|ENSP00000378504:Q350H	.|ENSP00000378504:Q350H	A|Q	-|-	1|3	0|2	NXF3|NXF3	102221599|102221599	1.000000|1.000000	0.71417|0.71417	0.447000|0.447000	0.26932|0.26932	0.587000|0.587000	0.36485|0.36485	0.940000|0.940000	0.28992|0.28992	-0.157000|-0.157000	0.11059|0.11059	-0.912000|-0.912000	0.02778|0.02778	GCA|CAG		0.483	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
TMEM31	203562	broad.mit.edu	37	X	102968621	102968621	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:102968621A>C	ENST00000319560.6	+	3	393	c.202A>C	c.(202-204)Atc>Ctc	p.I68L	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	68						integral component of membrane (GO:0016021)		p.I68L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						CGACAGAACGATCAACCTTCT	0.483																																					p.I68L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A202C	X						.						285.0	200.0	229.0					X																	102968621		2203	4300	6503	102855277	SO:0001583	missense	203562	exon3			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.202A>C	X.37:g.102968621A>C	ENSP00000316940:p.Ile68Leu		102855277	NM_182541	Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	A	7.596	0.671691	0.14776	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.81	-0.623	0.11556	.	0.774336	0.10566	N	0.659696	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.21151	0.033	T	0.20806	-1.0264	9	0.87932	D	0	-0.3048	7.9194	0.29837	0.5532:0.0:0.4468:0.0	.	68	Q5JXX7	TMM31_HUMAN	L	68	.	ENSP00000316940:I68L	I	+	1	0	TMEM31	102855277	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.091000	0.15046	-0.335000	0.08451	-1.043000	0.02367	ATC		0.483	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541	
MID1	4281	broad.mit.edu	37	X	10417522	10417522	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10417522G>A	ENST00000317552.4	-	10	2290	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	MID1_ENST00000380780.1_Silent_p.D630D|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Silent_p.D630D|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Silent_p.D630D|MID1_ENST00000380787.1_Silent_p.D630D|MID1_ENST00000380779.1_Silent_p.D630D	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	630	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D630D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAAATGCGACGTCGAAGGTGT	0.557																																					p.D630D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1890T	X						.						131.0	100.0	110.0					X																	10417522		2203	4300	6503	10377522	SO:0001819	synonymous_variant	4281	exon10			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1890C>T	X.37:g.10417522G>A			10377522	NM_001193277	B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	CCDS14138.1																																																																																				0.557	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
H2BFWT	158983	broad.mit.edu	37	X	103267811	103267811	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:103267811G>A	ENST00000217926.5	-	1	448	c.422C>T	c.(421-423)gCt>gTt	p.A141V	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	141						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A141V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CAGGCGCACAGCCATCCGGGT	0.647																																					p.A141V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C422T	X						.						28.0	28.0	28.0					X																	103267811		2203	4299	6502	103154467	SO:0001583	missense	158983	exon1			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.422C>T	X.37:g.103267811G>A	ENSP00000354723:p.Ala141Val		103154467	NM_001002916	B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.083089	0.76642	.	.	ENSG00000123569	ENST00000217926	T	0.55413	0.52	2.84	2.84	0.33178	Histone-fold (2);Histone core (1);	0.151282	0.21747	N	0.069729	T	0.71500	0.3347	M	0.85299	2.745	0.45150	D	0.998166	D	0.69078	0.997	D	0.70487	0.969	T	0.76372	-0.2983	10	0.87932	D	0	.	10.9533	0.47343	0.0:0.0:1.0:0.0	.	141	Q7Z2G1	H2BWT_HUMAN	V	141	ENSP00000354723:A141V	ENSP00000354723:A141V	A	-	2	0	H2BFWT	103154467	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	7.628000	0.83189	1.705000	0.51264	0.600000	0.82982	GCT		0.647	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916	
MID1	4281	broad.mit.edu	37	X	10534931	10534931	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10534931C>A	ENST00000317552.4	-	2	1057	c.657G>T	c.(655-657)ttG>ttT	p.L219F	MID1_ENST00000380780.1_Missense_Mutation_p.L219F|MID1_ENST00000380782.2_Missense_Mutation_p.L219F|MID1_ENST00000453318.2_Missense_Mutation_p.L219F|MID1_ENST00000380785.1_Missense_Mutation_p.L219F|MID1_ENST00000380787.1_Missense_Mutation_p.L219F|MID1_ENST00000380779.1_Missense_Mutation_p.L219F	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	219					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L219F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GACTAACCTTCAATTTGTCAT	0.478																																					p.L219F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G657T	X						.						100.0	78.0	85.0					X																	10534931		2203	4300	6503	10494931	SO:0001583	missense	4281	exon2			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.657G>T	X.37:g.10534931C>A	ENSP00000312678:p.Leu219Phe		10494931	NM_001193277	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	c	14.77	2.635484	0.47049	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.63	5.63	0.86233	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.59436	1.845	0.53005	D	0.999962	D;D;D	0.71674	0.998;0.994;0.989	D;D;P	0.68621	0.959;0.921;0.837	T	0.67130	-0.5748	10	0.62326	D	0.03	.	8.861	0.35258	0.0:0.7812:0.0:0.2188	.	219;219;219	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	F	219	ENSP00000414521:L219F;ENSP00000312678:L219F;ENSP00000370162:L219F;ENSP00000370156:L219F;ENSP00000370164:L219F;ENSP00000370157:L219F;ENSP00000370159:L219F;ENSP00000391154:L219F	ENSP00000312678:L219F	L	-	3	2	MID1	10494931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.213000	0.32407	2.383000	0.81215	0.597000	0.82753	TTG		0.478	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
MID1	4281	broad.mit.edu	37	X	10535339	10535339	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:10535339G>A	ENST00000317552.4	-	2	649	c.249C>T	c.(247-249)atC>atT	p.I83I	MID1_ENST00000380780.1_Silent_p.I83I|MID1_ENST00000380782.2_Silent_p.I83I|MID1_ENST00000453318.2_Silent_p.I83I|MID1_ENST00000380785.1_Silent_p.I83I|MID1_ENST00000380787.1_Silent_p.I83I|MID1_ENST00000380779.1_Silent_p.I83I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	83					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I83I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGAACCTGTCGATGATGTTCT	0.627																																					p.I83I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	X						.						133.0	105.0	115.0					X																	10535339		2203	4300	6503	10495339	SO:0001819	synonymous_variant	4281	exon2			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.249C>T	X.37:g.10535339G>A			10495339	NM_001193277	B2RCG2|O75361|Q9BZX5	Silent	SNP	ENST00000317552.4	37	CCDS14138.1																																																																																				0.627	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
IL1RAPL2	26280	broad.mit.edu	37	X	104999214	104999214	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:104999214C>A	ENST00000372582.1	+	10	1992	c.1236C>A	c.(1234-1236)gaC>gaA	p.D412E	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D412E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	412	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.D412E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAAAGTGGACCAAGATACTT	0.373																																					p.D412E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1236A	X						.						126.0	115.0	119.0					X																	104999214		2203	4300	6503	104885870	SO:0001583	missense	26280	exon10			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1236C>A	X.37:g.104999214C>A	ENSP00000361663:p.Asp412Glu		104885870	NM_017416	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841352	0.32513	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04654	3.68;3.68;3.58	5.62	-8.98	0.00754	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.087212	0.49305	N	0.000152	T	0.03739	0.0106	M	0.67517	2.055	0.49798	D	0.99982	B	0.02656	0.0	B	0.06405	0.002	T	0.31861	-0.9928	10	0.39692	T	0.17	.	3.2374	0.06770	0.2583:0.0911:0.0906:0.56	.	412	Q9NP60	IRPL2_HUMAN	E	412;412;17	ENSP00000361663:D412E;ENSP00000344976:D412E;ENSP00000445576:D17E	ENSP00000344976:D412E	D	+	3	2	IL1RAPL2	104885870	0.996000	0.38824	0.648000	0.29521	0.982000	0.71751	0.396000	0.20867	-2.081000	0.00869	-1.067000	0.02272	GAC		0.373	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
NRK	203447	broad.mit.edu	37	X	105137871	105137871	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105137871G>T	ENST00000243300.9	+	6	728	c.425G>T	c.(424-426)aGa>aTa	p.R142I	NRK_ENST00000536164.1_Missense_Mutation_p.R142I|NRK_ENST00000428173.2_Missense_Mutation_p.R142I	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R142I(3)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GATGTAGTGAGAATGACCAGT	0.378										HNSCC(51;0.14)																											p.R142I												.	.	3	Substitution - Missense(3)	large_intestine(2)|upper_aerodigestive_tract(1)	c.G425T	X						.						135.0	122.0	126.0					X																	105137871		1898	4099	5997	105024527	SO:0001583	missense	203447	exon6			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.425G>T	X.37:g.105137871G>T	ENSP00000434830:p.Arg142Ile		105024527	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	16.40	3.113018	0.56398	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.66099	-0.19;-0.19;-0.19	5.65	2.53	0.30540	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000094	T	0.63105	0.2483	L	0.41356	1.27	0.80722	D	1	D	0.58970	0.984	P	0.60541	0.876	T	0.62172	-0.6910	10	0.87932	D	0	.	5.4999	0.16823	0.5144:0.0:0.4856:0.0	.	142	Q7Z2Y5	NRK_HUMAN	I	142	ENSP00000434830:R142I;ENSP00000438378:R142I;ENSP00000438785:R142I	ENSP00000434830:R142I	R	+	2	0	NRK	105024527	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	6.193000	0.72075	0.553000	0.29044	0.594000	0.82650	AGA		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	broad.mit.edu	37	X	105167407	105167407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105167407G>T	ENST00000243300.9	+	18	3211	c.2908G>T	c.(2908-2910)Gat>Tat	p.D970Y	NRK_ENST00000428173.2_Missense_Mutation_p.D971Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	970	Asp-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.D971Y(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						taaagaccatgatgatgacaa	0.343										HNSCC(51;0.14)																											p.D970Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2908T	X						.						87.0	76.0	79.0					X																	105167407		1747	3700	5447	105054063	SO:0001583	missense	203447	exon18			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2908G>T	X.37:g.105167407G>T	ENSP00000434830:p.Asp970Tyr		105054063	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	5.102	0.204526	0.09704	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78003	-1.13;-1.14	3.06	1.23	0.21249	.	1.133850	0.06755	N	0.780718	T	0.59676	0.2211	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.001	T	0.48186	-0.9057	10	0.48119	T	0.1	.	3.0693	0.06225	0.1519:0.0:0.583:0.2652	.	638;970	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Y	970;971	ENSP00000434830:D970Y;ENSP00000438378:D971Y	ENSP00000434830:D970Y	D	+	1	0	NRK	105054063	0.003000	0.15002	0.001000	0.08648	0.036000	0.12997	0.921000	0.28718	0.190000	0.20209	0.597000	0.82753	GAT		0.343	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	broad.mit.edu	37	X	105189939	105189939	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105189939A>C	ENST00000243300.9	+	25	4438	c.4135A>C	c.(4135-4137)Ata>Cta	p.I1379L	NRK_ENST00000428173.2_Missense_Mutation_p.I1380L|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1379	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I1379L(1)|p.I1380L(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTGGCAAAAATACAGGCAGC	0.443										HNSCC(51;0.14)																											p.I1379L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4135C	X						.						103.0	89.0	93.0					X																	105189939		1885	4111	5996	105076595	SO:0001583	missense	203447	exon25			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4135A>C	X.37:g.105189939A>C	ENSP00000434830:p.Ile1379Leu		105076595	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	A	15.85	2.953558	0.53293	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79845	-1.3;-1.31	4.33	4.33	0.51752	Citron-like (2);	0.000000	0.56097	D	0.000032	T	0.76814	0.4040	N	0.08118	0	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.79029	-0.1970	10	0.59425	D	0.04	.	8.821	0.35025	1.0:0.0:0.0:0.0	.	1379	Q7Z2Y5	NRK_HUMAN	L	1379;1380	ENSP00000434830:I1379L;ENSP00000438378:I1380L	ENSP00000434830:I1379L	I	+	1	0	NRK	105076595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.608000	0.54109	1.904000	0.55121	0.486000	0.48141	ATA		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
SERPINA7	6906	broad.mit.edu	37	X	105281011	105281011	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105281011C>T	ENST00000327674.4	-	1	374	c.39G>A	c.(37-39)ggG>ggA	p.G13G	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.G13G			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	13					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G13G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TAGCATGAAGCCCAAGTACCA	0.438																																					p.G13G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G39A	X						.						105.0	92.0	97.0					X																	105281011		2203	4300	6503	105167667	SO:0001819	synonymous_variant	6906	exon2			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.39G>A	X.37:g.105281011C>T			105167667	NM_000354	D3DUX1	Silent	SNP	ENST00000327674.4	37	CCDS14518.1																																																																																				0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354	
MUM1L1	139221	broad.mit.edu	37	X	105449658	105449658	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105449658C>T	ENST00000357175.2	+	4	882	c.233C>T	c.(232-234)gCt>gTt	p.A78V	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A78V|MUM1L1_ENST00000337685.2_Missense_Mutation_p.A78V	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	78						extracellular vesicular exosome (GO:0070062)		p.A78V(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGGACAGTGCTCCACCTACA	0.398																																					p.A78V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C233T	X						.						47.0	40.0	42.0					X																	105449658		1920	4117	6037	105336314	SO:0001583	missense	139221	exon5			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.233C>T	X.37:g.105449658C>T	ENSP00000349699:p.Ala78Val		105336314	NM_152423	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	3.423	-0.117751	0.06838	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.52983	0.64;0.64;0.64	4.71	-9.43	0.00607	.	1.228550	0.05914	N	0.632267	T	0.25644	0.0624	L	0.43923	1.385	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.34079	-0.9843	10	0.02654	T	1	-28.9621	3.7572	0.08589	0.4986:0.1263:0.2835:0.0916	.	78	Q5H9M0	MUML1_HUMAN	V	78	ENSP00000349699:A78V;ENSP00000338641:A78V;ENSP00000361632:A78V	ENSP00000338641:A78V	A	+	2	0	MUM1L1	105336314	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.601000	0.00418	-2.295000	0.00662	0.600000	0.82982	GCT		0.398	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
MUM1L1	139221	broad.mit.edu	37	X	105450221	105450221	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105450221C>A	ENST00000357175.2	+	4	1445	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	MUM1L1_ENST00000372552.1_Missense_Mutation_p.L266M|MUM1L1_ENST00000337685.2_Missense_Mutation_p.L266M	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	266						extracellular vesicular exosome (GO:0070062)		p.L266M(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTAGAGACCCTGGCTGTTCC	0.463																																					p.L266M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C796A	X						.						49.0	43.0	45.0					X																	105450221		1882	4102	5984	105336877	SO:0001583	missense	139221	exon5			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.796C>A	X.37:g.105450221C>A	ENSP00000349699:p.Leu266Met		105336877	NM_152423	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	8.269	0.812940	0.16537	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.24908	1.83;1.83;1.83	4.95	0.734	0.18294	.	1.314640	0.05538	N	0.565225	T	0.21718	0.0523	L	0.53249	1.67	0.09310	N	1	B	0.32101	0.356	B	0.26770	0.073	T	0.24977	-1.0145	10	0.45353	T	0.12	-34.6797	3.3821	0.07259	0.4391:0.3566:0.0:0.2043	.	266	Q5H9M0	MUML1_HUMAN	M	266	ENSP00000349699:L266M;ENSP00000338641:L266M;ENSP00000361632:L266M	ENSP00000338641:L266M	L	+	1	2	MUM1L1	105336877	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.293000	0.08320	0.094000	0.17404	-0.222000	0.12452	CTG		0.463	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
CXorf57	55086	broad.mit.edu	37	X	105875933	105875933	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:105875933T>G	ENST00000372548.4	+	4	1167	c.1058T>G	c.(1057-1059)cTg>cGg	p.L353R	CXorf57_ENST00000372544.2_Missense_Mutation_p.L353R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	353							poly(A) RNA binding (GO:0044822)	p.L353R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATGGAGACTGCCAAAGCTA	0.318																																					p.L353R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1058G	X						.						41.0	41.0	41.0					X																	105875933		2201	4297	6498	105762589	SO:0001583	missense	55086	exon4			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1058T>G	X.37:g.105875933T>G	ENSP00000361628:p.Leu353Arg		105762589	NM_018015	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118297	0.56505	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.61859	0.07;0.07;0.25	4.08	4.08	0.47627	.	0.075648	0.53938	D	0.000044	T	0.71962	0.3402	M	0.66939	2.045	0.36710	D	0.880602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79162	-0.1917	10	0.87932	D	0	-7.7931	11.6472	0.51267	0.0:0.0:0.0:1.0	.	353;353;353	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	R	353;353;161	ENSP00000361623:L353R;ENSP00000361628:L353R;ENSP00000405866:L161R	ENSP00000361623:L353R	L	+	2	0	CXorf57	105762589	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	4.853000	0.62911	1.579000	0.49836	0.412000	0.27726	CTG		0.318	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
TEX13B	56156	broad.mit.edu	37	X	107224541	107224541	+	Silent	SNP	G	G	A	rs41300888		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107224541G>A	ENST00000302917.1	-	3	800	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	236								p.C236C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCTCTGCCCCGCAAAGGTGTA	0.592													G|||	1	0.000264901	0.0	0.0	3775	,	,		13852	0.0		0.001	False		,,,				2504	0.0				p.C236C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C708T	X						.						140.0	128.0	132.0					X																	107224541		2198	4300	6498	107111197	SO:0001819	synonymous_variant	56156	exon3			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.708C>T	X.37:g.107224541G>A			107111197	NM_031273	Q5JYF6	Silent	SNP	ENST00000302917.1	37	CCDS14534.1																																																																																				0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1		
VSIG1	340547	broad.mit.edu	37	X	107320327	107320327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107320327G>T	ENST00000217957.5	+	7	997	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	VSIG1_ENST00000415430.3_Nonsense_Mutation_p.E330*	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	294						integral component of membrane (GO:0016021)		p.E330*(1)|p.E294*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AATGCCAAGAGAAGACGCTAC	0.463																																					p.E294X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G880T	X						.						106.0	98.0	101.0					X																	107320327		2203	4300	6503	107206983	SO:0001587	stop_gained	340547	exon7			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.880G>T	X.37:g.107320327G>T	ENSP00000217957:p.Glu294*		107206983	NM_182607	C9J4P2|Q6MZS4	Nonsense_Mutation	SNP	ENST00000217957.5	37	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747673	0.69533	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	.	.	.	4.12	3.16	0.36331	.	11.257100	0.00166	N	0.000001	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	8.0985	0.30844	0.0:0.2438:0.7562:0.0	.	.	.	.	X	330;294	.	ENSP00000217957:E294X	E	+	1	0	VSIG1	107206983	0.376000	0.25098	0.003000	0.11579	0.015000	0.08874	2.531000	0.45650	2.016000	0.59253	0.466000	0.42574	GAA		0.463	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607	
ATG4A	115201	broad.mit.edu	37	X	107369366	107369366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107369366G>T	ENST00000372232.3	+	2	229	c.70G>T	c.(70-72)Gat>Tat	p.D24Y	ATG4A_ENST00000545696.1_5'UTR|ATG4A_ENST00000372254.3_Missense_Mutation_p.D24Y|ATG4A_ENST00000345734.3_Missense_Mutation_p.D24Y	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	24					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)	p.D24Y(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGAATATCCAGATACAGATGA	0.368																																					p.D24Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G70T	X						.						87.0	75.0	79.0					X																	107369366		2203	4300	6503	107256022	SO:0001583	missense	115201	exon2			AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.70G>T	X.37:g.107369366G>T	ENSP00000361306:p.Asp24Tyr		107256022	NM_178270	A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.86|19.86	3.905232|3.905232	0.72868|0.72868	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000372232;ENST00000345734;ENST00000372254|ENST00000394892	T;T;T|.	0.56103|.	0.89;0.88;0.48|.	5.7|5.7	4.84|4.84	0.62591|0.62591	.|.	0.109676|.	0.64402|.	D|.	0.000017|.	T|T	0.62708|0.62708	0.2450|0.2450	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;B|.	0.31949|.	0.348;0.019|.	B;B|.	0.40038|.	0.317;0.017|.	T|T	0.59904|0.59904	-0.7366|-0.7366	10|5	0.52906|.	T|.	0.07|.	-13.1196|-13.1196	12.8694|12.8694	0.57957|0.57957	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	24;24|.	Q8WYN0-2;Q8WYN0|.	.;ATG4A_HUMAN|.	Y|H	24|20	ENSP00000361306:D24Y;ENSP00000298131:D24Y;ENSP00000361328:D24Y|.	ENSP00000341833:D24Y|.	D|Q	+|+	1|3	0|2	ATG4A|ATG4A	107256022|107256022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.498000|6.498000	0.73679|0.73679	1.165000|1.165000	0.42670|0.42670	-0.190000|-0.190000	0.12839|0.12839	GAT|CAG		0.368	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936	
COL4A5	1287	broad.mit.edu	37	X	107824241	107824241	+	Missense_Mutation	SNP	G	G	A	rs104886082		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107824241G>A	ENST00000361603.2	+	16	1164	c.920G>A	c.(919-921)gGc>gAc	p.G307D	COL4A5_ENST00000328300.6_Missense_Mutation_p.G307D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	307	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G307D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAGAAAATGGCCAACCAGGA	0.383									Alport syndrome with Diffuse Leiomyomatosis																												p.G307D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G920A	X						.						119.0	104.0	109.0					X																	107824241		2203	4300	6503	107710897	SO:0001583	missense	1287	exon16	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.920G>A	X.37:g.107824241G>A	ENSP00000354505:p.Gly307Asp		107710897	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383177	0.61845	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99532	-6.1;-6.1	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96661	0.9489	10	0.87932	D	0	.	18.4042	0.90528	0.0:0.0:1.0:0.0	.	307;307	E7EVY4;P29400	.;CO4A5_HUMAN	D	307	ENSP00000331902:G307D;ENSP00000354505:G307D	ENSP00000331902:G307D	G	+	2	0	COL4A5	107710897	1.000000	0.71417	0.999000	0.59377	0.688000	0.40055	6.474000	0.73578	2.286000	0.76751	0.600000	0.82982	GGC		0.383	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
COL4A5	1287	broad.mit.edu	37	X	107910364	107910364	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107910364T>C	ENST00000361603.2	+	40	3799	c.3555T>C	c.(3553-3555)ggT>ggC	p.G1185G	COL4A5_ENST00000328300.6_Splice_Site_p.G1185G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1185	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G1185G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCTGACAGGTCAACCAGGCT	0.343									Alport syndrome with Diffuse Leiomyomatosis																												p.G1185G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3555C	X						.						66.0	69.0	68.0					X																	107910364		2203	4300	6503	107797020	SO:0001630	splice_region_variant	1287	exon40	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3554-1T>C	X.37:g.107910364T>C			107797020	NM_000495	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																				0.343	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Silent
COL4A5	1287	broad.mit.edu	37	X	107938088	107938088	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107938088G>A	ENST00000361603.2	+	49	4984	c.4740G>A	c.(4738-4740)acG>acA	p.T1580T	COL4A5_ENST00000328300.6_Silent_p.T1586T	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1580	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.T1580T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGTCAGACGATCCAGATTC	0.443									Alport syndrome with Diffuse Leiomyomatosis																												p.R1582Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4745A	X						.						342.0	228.0	267.0					X																	107938088		2203	4300	6503	107824744	SO:0001819	synonymous_variant	1287	exon49	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4740G>A	X.37:g.107938088G>A			107824744	NM_033380	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	CCDS14543.1																																																																																				0.443	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
IRS4	8471	broad.mit.edu	37	X	107977570	107977570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107977570C>A	ENST00000372129.2	-	1	2081	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	669					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.E669*(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTTGGCTTCTTTGCATTCT	0.507																																					p.E669X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2005T	X						.						276.0	277.0	277.0					X																	107977570		2203	4300	6503	107864226	SO:0001587	stop_gained	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2005G>T	X.37:g.107977570C>A	ENSP00000361202:p.Glu669*		107864226	NM_003604		Nonsense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470291	0.84533	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.9	4.9	0.64082	.	0.486350	0.19522	N	0.112247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.1869	11.6749	0.51424	0.0:0.9137:0.0:0.0863	.	.	.	.	X	669	.	ENSP00000361202:E669X	E	-	1	0	IRS4	107864226	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	4.078000	0.57606	2.257000	0.74773	0.600000	0.82982	GAA		0.507	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
IRS4	8471	broad.mit.edu	37	X	107977986	107977986	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107977986C>T	ENST00000372129.2	-	1	1665	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	530					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R530Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGACCACCTCGGGATCCCTG	0.632																																					p.R530Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589A	X						.						139.0	139.0	139.0					X																	107977986		2203	4300	6503	107864642	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1589G>A	X.37:g.107977986C>T	ENSP00000361202:p.Arg530Gln		107864642	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859443	0.17178	.	.	ENSG00000133124	ENST00000372129	T	0.34859	1.34	4.01	3.13	0.36017	.	0.811623	0.10552	N	0.661316	T	0.17280	0.0415	N	0.08118	0	0.18873	N	0.999982	B	0.33044	0.395	B	0.21360	0.034	T	0.09975	-1.0650	10	0.52906	T	0.07	-0.3908	8.5711	0.33569	0.0:0.7698:0.2302:0.0	.	530	O14654	IRS4_HUMAN	Q	530	ENSP00000361202:R530Q	ENSP00000361202:R530Q	R	-	2	0	IRS4	107864642	0.001000	0.12720	0.216000	0.23742	0.122000	0.20287	0.194000	0.17135	1.022000	0.39626	0.600000	0.82982	CGA		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
IRS4	8471	broad.mit.edu	37	X	107978275	107978275	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107978275G>A	ENST00000372129.2	-	1	1376	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	434					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R434C(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCTAAGCGGCGAAAAAAGCTG	0.632																																					p.R434C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1300T	X						.						62.0	54.0	57.0					X																	107978275		2203	4300	6503	107864931	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1300C>T	X.37:g.107978275G>A	ENSP00000361202:p.Arg434Cys		107864931	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211337	0.22289	.	.	ENSG00000133124	ENST00000372129	T	0.40476	1.03	4.59	4.59	0.56863	.	0.662691	0.13958	N	0.351073	T	0.42494	0.1205	L	0.32530	0.975	0.19300	N	0.999979	D	0.67145	0.996	P	0.47528	0.549	T	0.38950	-0.9637	10	0.62326	D	0.03	-8.6902	17.0086	0.86400	0.0:0.0:1.0:0.0	.	434	O14654	IRS4_HUMAN	C	434	ENSP00000361202:R434C	ENSP00000361202:R434C	R	-	1	0	IRS4	107864931	0.439000	0.25610	0.006000	0.13384	0.003000	0.03518	3.824000	0.55723	2.281000	0.76405	0.596000	0.82720	CGC		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
IRS4	8471	broad.mit.edu	37	X	107978378	107978378	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:107978378G>A	ENST00000372129.2	-	1	1273	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	399					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.F399F(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGGGTGTTACGAAGCGCCTGG	0.632																																					p.F399F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1197T	X						.						54.0	47.0	50.0					X																	107978378		2203	4300	6503	107865034	SO:0001819	synonymous_variant	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1197C>T	X.37:g.107978378G>A			107865034	NM_003604		Silent	SNP	ENST00000372129.2	37	CCDS14544.1																																																																																				0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
GUCY2F	2986	broad.mit.edu	37	X	108638580	108638580	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:108638580A>T	ENST00000218006.2	-	12	2705	c.2414T>A	c.(2413-2415)aTa>aAa	p.I805K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.I805K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTGGTTAAATATTTCATCAAA	0.488																																					p.I805K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2414A	X						.						152.0	123.0	133.0					X																	108638580		2203	4300	6503	108525236	SO:0001583	missense	2986	exon12			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2414T>A	X.37:g.108638580A>T	ENSP00000218006:p.Ile805Lys		108525236	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592516	0.66219	.	.	ENSG00000101890	ENST00000218006	D	0.85339	-1.97	4.14	2.97	0.34412	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.147943	0.56097	D	0.000024	D	0.93628	0.7965	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.92253	0.5810	10	0.87932	D	0	.	7.1365	0.25531	0.8884:0.0:0.1116:0.0	.	805	P51841	GUC2F_HUMAN	K	805	ENSP00000218006:I805K	ENSP00000218006:I805K	I	-	2	0	GUCY2F	108525236	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.666000	0.74446	0.727000	0.32360	0.412000	0.27726	ATA		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
RGAG1	57529	broad.mit.edu	37	X	109693871	109693871	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109693871G>A	ENST00000465301.2	+	3	272	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RGAG1_ENST00000540313.1_Missense_Mutation_p.R9Q	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	9								p.R9Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATTCACTGCGATTCAACAAT	0.453											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R9Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G26A	X						.						166.0	153.0	158.0					X																	109693871		2203	4300	6503	109580527	SO:0001583	missense	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.26G>A	X.37:g.109693871G>A	ENSP00000419786:p.Arg9Gln	1421	109580527	NM_020769	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.707007	0.00719	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.48836	0.8;0.8	4.16	-5.69	0.02428	.	1.785780	0.03625	N	0.236953	T	0.25044	0.0608	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.10450	0.005	T	0.21552	-1.0242	9	.	.	.	0.4227	9.6297	0.39772	0.696:0.1203:0.1837:0.0	.	9	Q8NET4	RGAG1_HUMAN	Q	9	ENSP00000419786:R9Q;ENSP00000441452:R9Q	.	R	+	2	0	RGAG1	109580527	0.366000	0.25014	0.000000	0.03702	0.000000	0.00434	-0.478000	0.06575	-1.989000	0.00979	-0.909000	0.02823	CGA		0.453	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu	37	X	109693932	109693932	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109693932T>C	ENST00000465301.2	+	3	333	c.87T>C	c.(85-87)tgT>tgC	p.C29C	RGAG1_ENST00000540313.1_Silent_p.C29C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	29								p.C29C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGCCTTCTGTAGACCAATGA	0.468											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C29C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T87C	X						.						208.0	180.0	190.0					X																	109693932		2203	4300	6503	109580588	SO:0001819	synonymous_variant	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.87T>C	X.37:g.109693932T>C		1421	109580588	NM_020769	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu	37	X	109694869	109694869	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109694869G>T	ENST00000465301.2	+	3	1270	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	RGAG1_ENST00000540313.1_Missense_Mutation_p.D342Y	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	342								p.D342Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCAGCTCCAGATGCTGAAGC	0.547																																					p.D342Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024T	X						.						240.0	224.0	229.0					X																	109694869		2203	4300	6503	109581525	SO:0001583	missense	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1024G>T	X.37:g.109694869G>T	ENSP00000419786:p.Asp342Tyr		109581525	NM_020769	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894427	0.52121	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.55413	0.52;0.52	4.42	1.74	0.24563	.	0.387744	0.18799	N	0.130840	T	0.51261	0.1664	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.63192	0.912	T	0.34900	-0.9810	9	.	.	.	-2.1781	6.274	0.20971	0.4329:0.0:0.5671:0.0	.	342	Q8NET4	RGAG1_HUMAN	Y	342	ENSP00000419786:D342Y;ENSP00000441452:D342Y	.	D	+	1	0	RGAG1	109581525	0.001000	0.12720	0.001000	0.08648	0.527000	0.34593	0.879000	0.28146	0.234000	0.21139	-0.190000	0.12839	GAT		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu	37	X	109696765	109696765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109696765G>T	ENST00000465301.2	+	3	3166	c.2920G>T	c.(2920-2922)Gag>Tag	p.E974*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E974*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	974								p.E974*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGCTTCTGGAGAGATGTCTAT	0.502																																					p.E974X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2920T	X						.						145.0	136.0	139.0					X																	109696765		2203	4300	6503	109583421	SO:0001587	stop_gained	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2920G>T	X.37:g.109696765G>T	ENSP00000419786:p.Glu974*		109583421	NM_020769	Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626739	0.96671	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3015	8.6038	0.33760	0.0:0.2303:0.7697:0.0	.	.	.	.	X	974	.	.	E	+	1	0	RGAG1	109583421	1.000000	0.71417	0.978000	0.43139	0.022000	0.10575	4.681000	0.61663	2.174000	0.68829	0.600000	0.82982	GAG		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu	37	X	109697344	109697344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109697344G>T	ENST00000465301.2	+	3	3745	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1167*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1167								p.E1167*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTGGAGGAAGAGATGGAGAT	0.512																																					p.E1167X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3499T	X						.						100.0	93.0	96.0					X																	109697344		2203	4300	6503	109584000	SO:0001587	stop_gained	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3499G>T	X.37:g.109697344G>T	ENSP00000419786:p.Glu1167*		109584000	NM_020769	Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	40	8.343758	0.98769	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	.	.	.	4.02	4.02	0.46733	.	0.000000	0.37483	N	0.002070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8423	10.5265	0.44952	0.0:0.0:1.0:0.0	.	.	.	.	X	1167;1167;728	.	.	E	+	1	0	RGAG1	109584000	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	1.606000	0.36826	2.243000	0.73865	0.600000	0.82982	GAG		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
RGAG1	57529	broad.mit.edu	37	X	109697507	109697507	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109697507G>A	ENST00000465301.2	+	3	3908	c.3662G>A	c.(3661-3663)aGa>aAa	p.R1221K	RGAG1_ENST00000540313.1_Missense_Mutation_p.R1221K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1221								p.R1221K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TTCCTGAGAAGATCCCAGGGC	0.463																																					p.R1221K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3662A	X						.						109.0	103.0	105.0					X																	109697507		2203	4300	6503	109584163	SO:0001583	missense	57529	exon3			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3662G>A	X.37:g.109697507G>A	ENSP00000419786:p.Arg1221Lys		109584163	NM_020769	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427677	0.25726	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.42131	0.98;0.98	4.26	4.26	0.50523	.	0.000000	0.45361	D	0.000379	T	0.45276	0.1334	N	0.19112	0.55	0.20873	N	0.999835	D	0.76494	0.999	D	0.80764	0.994	T	0.23619	-1.0183	9	.	.	.	-20.326	10.9798	0.47488	0.0:0.0:1.0:0.0	.	1221	Q8NET4	RGAG1_HUMAN	K	1221;1221;782	ENSP00000419786:R1221K;ENSP00000441452:R1221K	.	R	+	2	0	RGAG1	109584163	0.998000	0.40836	0.484000	0.27391	0.911000	0.54048	2.399000	0.44495	2.356000	0.79943	0.600000	0.82982	AGA		0.463	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
CHRDL1	91851	broad.mit.edu	37	X	109931907	109931907	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:109931907G>A	ENST00000372045.1	-	9	1013	c.882C>T	c.(880-882)atC>atT	p.I294I	CHRDL1_ENST00000434224.1_Silent_p.I221I|CHRDL1_ENST00000394797.4_Silent_p.I300I|CHRDL1_ENST00000444321.2_Silent_p.I300I|CHRDL1_ENST00000218054.4_Silent_p.I300I|CHRDL1_ENST00000372042.1_Silent_p.I301I|CHRDL1_ENST00000482160.1_Silent_p.I221I			Q9BU40	CRDL1_HUMAN	chordin-like 1	294	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.I300I(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGGGGCAGTGGATTTTCTTAC	0.473																																					p.I301I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C903T	X						.						193.0	176.0	182.0					X																	109931907		2203	4300	6503	109818563	SO:0001819	synonymous_variant	91851	exon9			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.882C>T	X.37:g.109931907G>A			109818563	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	ENST00000372045.1	37																																																																																					0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
CHRDL1	91851	broad.mit.edu	37	X	110035400	110035400	+	5'UTR	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:110035400T>G	ENST00000372045.1	-	0	123				CHRDL1_ENST00000434224.1_Missense_Mutation_p.K4Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.K4Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.K4Q|CHRDL1_ENST00000218054.4_Missense_Mutation_p.K4Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.K4Q|CHRDL1_ENST00000482160.1_Missense_Mutation_p.K4Q			Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.K4Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATTTTCCACTTTTTTCTCATT	0.388																																					p.K4Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10C	X						.						88.0	73.0	78.0					X																	110035400		2203	4300	6503	109922056	SO:0001623	5_prime_UTR_variant	91851	exon2			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.-9A>C	X.37:g.110035400T>G			109922056	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	T	10.92	1.486897	0.26686	.	.	ENSG00000101938	ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T	0.32988	1.43;2.18;2.18;2.45;1.43;2.18	5.19	2.53	0.30540	.	0.740498	0.13784	N	0.363030	T	0.16896	0.0406	N	0.19112	0.55	0.29198	N	0.875426	B;B;P	0.49185	0.019;0.019;0.92	B;B;B	0.40901	0.011;0.011;0.343	T	0.06092	-1.0846	9	.	.	.	-3.0497	5.4898	0.16769	0.0:0.0962:0.171:0.7328	.	4;4;4	E9PGS5;D3DUY6;D3YTA8	.;.;.	Q	4	ENSP00000389627:K4Q;ENSP00000218054:K4Q;ENSP00000378276:K4Q;ENSP00000361112:K4Q;ENSP00000418443:K4Q;ENSP00000399739:K4Q	.	K	-	1	0	CHRDL1	109922056	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	1.806000	0.38892	0.806000	0.34183	0.481000	0.45027	AAG		0.388	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
PAK3	5063	broad.mit.edu	37	X	110439116	110439116	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:110439116G>A	ENST00000372010.1	+	16	1644	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	PAK3_ENST00000518291.1_Missense_Mutation_p.R422K|PAK3_ENST00000425146.1_Missense_Mutation_p.R386K|PAK3_ENST00000262836.4_Missense_Mutation_p.R401K|PAK3_ENST00000519681.1_Missense_Mutation_p.R407K|PAK3_ENST00000417227.1_Missense_Mutation_p.R407K|PAK3_ENST00000446737.1_Missense_Mutation_p.R386K|PAK3_ENST00000372007.5_Missense_Mutation_p.R386K|PAK3_ENST00000360648.4_Missense_Mutation_p.R422K			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	401	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R386K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGATCCATAGAGATATAAAG	0.338										TSP Lung(19;0.15)																											p.R386K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	X						.						127.0	125.0	126.0					X																	110439116		2203	4300	6503	110325772	SO:0001583	missense	5063	exon13			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1202G>A	X.37:g.110439116G>A	ENSP00000361080:p.Arg401Lys		110325772	NM_001128166	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292768	0.95546	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	H	0.94925	3.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.999;1.0;0.999	T	0.78768	-0.2075	10	0.87932	D	0	.	18.5792	0.91165	0.0:0.0:1.0:0.0	.	407;422;401;386;401	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	K	386;386;401;407;386;422;422;407;401	ENSP00000410853:R386K;ENSP00000401982:R386K;ENSP00000361080:R401K;ENSP00000429113:R407K;ENSP00000361077:R386K;ENSP00000428921:R422K;ENSP00000353864:R422K;ENSP00000389172:R407K;ENSP00000262836:R401K	ENSP00000262836:R401K	R	+	2	0	PAK3	110325772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.417000	0.82017	0.594000	0.82650	AGA		0.338	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
DCX	1641	broad.mit.edu	37	X	110653358	110653358	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:110653358G>T	ENST00000338081.3	-	2	683	c.512C>A	c.(511-513)tCt>tAt	p.S171Y	DCX_ENST00000371993.2_Missense_Mutation_p.S90Y|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.S90Y|DCX_ENST00000488120.1_Missense_Mutation_p.S90Y|DCX_ENST00000356220.3_Missense_Mutation_p.S90Y	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	171	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.S171Y(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTCAGACAGAGATCGCGTCAG	0.517																																					p.S90Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269A	X						.						227.0	169.0	189.0					X																	110653358		2203	4300	6503	110540014	SO:0001583	missense	1641	exon2			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.512C>A	X.37:g.110653358G>T	ENSP00000337697:p.Ser171Tyr		110540014	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.612915|4.612915	0.87258|0.87258	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.93426	.|-2.15;-2.15;-2.15;-2.15;-2.15;-3.22	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Doublecortin domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96442|0.96442	0.8839|0.8839	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	.|P;D	.|0.69078	.|0.593;0.997	.|P;D	.|0.78314	.|0.694;0.991	D|D	0.95807|0.95807	0.8838|0.8838	5|10	.|0.42905	.|T	.|0.14	.|.	18.4403|18.4403	0.90664|0.90664	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|159;171	.|B4DM53;O43602	.|.;DCX_HUMAN	I|Y	163|90;90;171;90;90;90	.|ENSP00000349385:S90Y;ENSP00000361061:S90Y;ENSP00000337697:S171Y;ENSP00000348553:S90Y;ENSP00000419861:S90Y;ENSP00000418811:S90Y	.|ENSP00000337697:S171Y	L|S	-|-	1|2	0|0	DCX|DCX	110540014|110540014	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.657000|9.657000	0.98554|0.98554	2.551000|2.551000	0.86045|0.86045	0.600000|0.600000	0.82982|0.82982	CTC|TCT		0.517	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
ARHGAP6	395	broad.mit.edu	37	X	11206944	11206944	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:11206944G>T	ENST00000337414.4	-	4	1853	c.981C>A	c.(979-981)ctC>ctA	p.L327L	ARHGAP6_ENST00000380718.1_Silent_p.L327L|ARHGAP6_ENST00000380736.1_Silent_p.L124L|ARHGAP6_ENST00000380732.3_Silent_p.L359L|ARHGAP6_ENST00000534860.1_Silent_p.L152L|ARHGAP6_ENST00000303025.6_Silent_p.L124L|ARHGAP6_ENST00000413512.3_Silent_p.L136L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	327					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.L327L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TACTGCTTGAGAGTTCTTTGT	0.498																																					p.L124L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372A	X						.						150.0	114.0	126.0					X																	11206944		2203	4300	6503	11116865	SO:0001819	synonymous_variant	395	exon4			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.981C>A	X.37:g.11206944G>T			11116865	NM_013423	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	CCDS14140.1																																																																																				0.498	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
DCX	1641	broad.mit.edu	37	X	110653451	110653451	+	Missense_Mutation	SNP	C	C	T	rs122457137		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:110653451C>T	ENST00000338081.3	-	2	590	c.419G>A	c.(418-420)cGc>cAc	p.R140H	DCX_ENST00000371993.2_Missense_Mutation_p.R59H|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R59H|DCX_ENST00000488120.1_Missense_Mutation_p.R59H|DCX_ENST00000356220.3_Missense_Mutation_p.R59H	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	140	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.		R -> H (in SBHX). {ECO:0000269|PubMed:11175293}.|R -> L (in LISX1 and SBHX). {ECO:0000269|PubMed:9489700}.		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.R140H(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTCCCCATTGCGGTAGAAACG	0.542																																					p.R59H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	X	GRCh37	CM010014	DCX	M	rs122457137	.						310.0	225.0	254.0					X																	110653451		2203	4300	6503	110540107	SO:0001583	missense	1641	exon2			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.419G>A	X.37:g.110653451C>T	ENSP00000337697:p.Arg140His		110540107	NM_178153	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.979578|4.979578	0.92982|0.92982	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|D;D;D;D;D;D	.|0.94793	.|-2.46;-2.46;-2.46;-2.46;-2.46;-3.52	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Doublecortin domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98021|0.98021	0.9348|0.9348	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.81914	.|0.974;0.995	D|D	0.98991|0.98991	1.0808|1.0808	5|10	.|0.72032	.|D	.|0.01	.|.	18.1845|18.1845	0.89789|0.89789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;140	.|B4DM53;O43602	.|.;DCX_HUMAN	T|H	132|59;59;140;59;59;59	.|ENSP00000349385:R59H;ENSP00000361061:R59H;ENSP00000337697:R140H;ENSP00000348553:R59H;ENSP00000419861:R59H;ENSP00000418811:R59H	.|ENSP00000337697:R140H	A|R	-|-	1|2	0|0	DCX|DCX	110540107|110540107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.487000|2.487000	0.83934|0.83934	0.513000|0.513000	0.50165|0.50165	GCA|CGC		0.542	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153	
ZCCHC16	340595	broad.mit.edu	37	X	111698217	111698217	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:111698217C>A	ENST00000340433.2	+	1	491	c.261C>A	c.(259-261)atC>atA	p.I87I		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	87							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I87I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCAAATCTCTAATCCTG	0.448																																					p.I87I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261A	X						.						121.0	98.0	106.0					X																	111698217		2203	4300	6503	111584873	SO:0001819	synonymous_variant	340595	exon3			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.261C>A	X.37:g.111698217C>A			111584873	NM_001004308	B2RPG1	Silent	SNP	ENST00000340433.2	37	CCDS35369.1																																																																																				0.448	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
HTR2C	3358	broad.mit.edu	37	X	113965950	113965950	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:113965950C>A	ENST00000276198.1	+	4	1011	c.283C>A	c.(283-285)Cta>Ata	p.L95I	HTR2C_ENST00000371951.1_Missense_Mutation_p.L95I|HTR2C_ENST00000371950.3_Missense_Mutation_p.L95I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	95					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L95I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTAATGTCCCTAGCCATTGC	0.403																																					p.L95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283A	X						.						209.0	163.0	179.0					X																	113965950		2203	4300	6503	113872206	SO:0001583	missense	3358	exon4				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.283C>A	X.37:g.113965950C>A	ENSP00000276198:p.Leu95Ile		113872206	NM_000868	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186543	0.78789	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	D;D;D	0.91124	-2.79;-2.79;-2.79	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	D	0.97508	0.9184	H	0.99182	4.46	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98908	1.0779	10	0.87932	D	0	.	15.3884	0.74723	0.0:1.0:0.0:0.0	.	95;95	B1AMW4;P28335	.;5HT2C_HUMAN	I	95	ENSP00000276198:L95I;ENSP00000361019:L95I;ENSP00000361018:L95I	ENSP00000276198:L95I	L	+	1	2	HTR2C	113872206	0.992000	0.36948	1.000000	0.80357	0.929000	0.56500	2.987000	0.49378	2.520000	0.84964	0.594000	0.82650	CTA		0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
HTR2C	3358	broad.mit.edu	37	X	114141428	114141428	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:114141428A>G	ENST00000276198.1	+	6	1555	c.827A>G	c.(826-828)aAc>aGc	p.N276S	HTR2C_ENST00000371951.1_Missense_Mutation_p.N276S|HTR2C_ENST00000371950.3_Silent_p.E244E	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	276					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.N276S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAGGAAGAGAACTCTGCAAAC	0.517																																					p.N276S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A827G	X						.						137.0	130.0	132.0					X																	114141428		2203	4300	6503	114047684	SO:0001583	missense	3358	exon6				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.827A>G	X.37:g.114141428A>G	ENSP00000276198:p.Asn276Ser		114047684	NM_000868	B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.263726	0.00262	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.57436	0.4;0.4	4.51	0.419	0.16438	GPCR, rhodopsin-like superfamily (1);	1.061680	0.07225	N	0.861537	T	0.21962	0.0529	N	0.04820	-0.15	0.21105	N	0.999788	B	0.14012	0.009	B	0.14023	0.01	T	0.24404	-1.0161	10	0.05620	T	0.96	.	0.611	0.00761	0.4087:0.1731:0.1114:0.3068	.	276	P28335	5HT2C_HUMAN	S	276	ENSP00000276198:N276S;ENSP00000361019:N276S	ENSP00000276198:N276S	N	+	2	0	HTR2C	114047684	0.102000	0.21896	0.055000	0.19348	0.212000	0.24457	0.911000	0.28584	0.205000	0.20568	0.381000	0.24937	AAC		0.517	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868	
IL13RA2	3598	broad.mit.edu	37	X	114239865	114239865	+	Silent	SNP	C	C	T	rs368591186		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:114239865C>T	ENST00000371936.1	-	10	1260	c.1011G>A	c.(1009-1011)tcG>tcA	p.S337S	IL13RA2_ENST00000243213.1_Silent_p.S337S			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	337					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.S337S(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGTTTTCTTCGATAGGTCTT	0.353																																					p.S337S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1011A	X						.	C		0,3835		0,0,1632,571	68.0	65.0	66.0		1011	3.8	0.0	X		66	1,6727		0,1,2427,1872	no	coding-synonymous	IL13RA2	NM_000640.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		337/381	114239865	1,10562	2203	4300	6503	114146121	SO:0001819	synonymous_variant	3598	exon9			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1011G>A	X.37:g.114239865C>T			114146121	NM_000640	A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	CCDS14565.1																																																																																				0.353	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
IL13RA2	3598	broad.mit.edu	37	X	114251824	114251824	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:114251824G>A	ENST00000371936.1	-	3	258	c.9C>T	c.(7-9)ttC>ttT	p.F3F	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.F3F			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	3					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.F3F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCAAGCAAACGAAAGCCATTT	0.328																																					p.F3F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9T	X						.						88.0	76.0	80.0					X																	114251824		2203	4300	6503	114158080	SO:0001819	synonymous_variant	3598	exon2			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.9C>T	X.37:g.114251824G>A			114158080	NM_000640	A8K7E2|O00667	Silent	SNP	ENST00000371936.1	37	CCDS14565.1																																																																																				0.328	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
PLS3	5358	broad.mit.edu	37	X	114864191	114864191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:114864191G>T	ENST00000420625.2	+	5	546	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	PLS3_ENST00000289290.3_Nonsense_Mutation_p.E93*|PLS3_ENST00000539310.1_Nonsense_Mutation_p.E93*|PLS3_ENST00000537301.1_Nonsense_Mutation_p.E116*|PLS3_ENST00000355899.3_Nonsense_Mutation_p.E138*	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	138	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.E138*(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CAAAGCTTTGGAAAATGATCC	0.313																																					p.E138X	Colon(160;1047 1864 8490 12969 29601)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G412T	X						.						195.0	181.0	186.0					X																	114864191		2203	4300	6503	114770447	SO:0001587	stop_gained	5358	exon5			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.412G>T	X.37:g.114864191G>T	ENSP00000398945:p.Glu138*		114770447	NM_005032	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Nonsense_Mutation	SNP	ENST00000420625.2	37	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	37	6.381021	0.97520	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-4.8889	16.8052	0.85625	0.0:0.0:1.0:0.0	.	.	.	.	X	138;116;93;138;93	.	ENSP00000289290:E93X	E	+	1	0	PLS3	114770447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.279000	0.76181	0.600000	0.82982	GAA		0.313	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2		
AGTR2	186	broad.mit.edu	37	X	115303593	115303593	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:115303593C>T	ENST00000371906.4	+	3	250	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	20					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.F20F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	GTCTTCACTTCGGGCTTGTGA	0.423																																					p.F20F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C60T	X						.						93.0	81.0	85.0					X																	115303593		2203	4300	6503	115217621	SO:0001819	synonymous_variant	186	exon3			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.60C>T	X.37:g.115303593C>T			115217621	NM_000686	B2R9V1|Q13016|Q6FGY7	Silent	SNP	ENST00000371906.4	37	CCDS14569.1																																																																																				0.423	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
WDR44	54521	broad.mit.edu	37	X	117527157	117527157	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:117527157C>A	ENST00000254029.3	+	4	1144	c.749C>A	c.(748-750)cCt>cAt	p.P250H	WDR44_ENST00000371822.5_Missense_Mutation_p.P225H|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.P250H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	250	Pro-rich.			P -> L (in Ref. 2; CAL38662). {ECO:0000305}.		endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.P250H(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCCCCACCTCCTTCTCGACCT	0.468																																					p.P225H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C674A	X						.						125.0	129.0	128.0					X																	117527157		2203	4300	6503	117411185	SO:0001583	missense	54521	exon3			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.749C>A	X.37:g.117527157C>A	ENSP00000254029:p.Pro250His		117411185	NM_001184966	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798801	0.90538	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	D;D;D	0.89746	-2.56;-1.94;-1.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	L	0.36672	1.1	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.92252	0.5809	10	0.51188	T	0.08	-14.3141	18.783	0.91942	0.0:1.0:0.0:0.0	.	225;250;250	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	H	225;250;250	ENSP00000360887:P225H;ENSP00000254029:P250H;ENSP00000360890:P250H	ENSP00000254029:P250H	P	+	2	0	WDR44	117411185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.415000	0.80131	2.383000	0.81215	0.541000	0.68203	CCT		0.468	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
DOCK11	139818	broad.mit.edu	37	X	117733155	117733155	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:117733155G>A	ENST00000276202.7	+	23	2589	c.2526G>A	c.(2524-2526)tcG>tcA	p.S842S	DOCK11_ENST00000276204.6_Silent_p.S842S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	842					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S842S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTCAGGCTCGAAAGAAGTTC	0.393																																					p.S842S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2526A	X						.						65.0	57.0	60.0					X																	117733155		2203	4300	6503	117617183	SO:0001819	synonymous_variant	139818	exon23			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2526G>A	X.37:g.117733155G>A			117617183	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																				0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	broad.mit.edu	37	X	117783028	117783028	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:117783028C>A	ENST00000276202.7	+	41	4582	c.4519C>A	c.(4519-4521)Ctt>Att	p.L1507I	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1507I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1507					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1507I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACTTTTGTATCTTTTGATGAG	0.383																																					p.L1507I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4519A	X						.						146.0	143.0	144.0					X																	117783028		2203	4300	6503	117667056	SO:0001583	missense	139818	exon41			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4519C>A	X.37:g.117783028C>A	ENSP00000276202:p.Leu1507Ile		117667056	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831100	0.71258	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.01933	4.55;4.55	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	M	0.80028	2.48	0.52099	D	0.999942	P;P	0.50819	0.897;0.939	B;P	0.50537	0.441;0.643	T	0.05115	-1.0905	10	0.39692	T	0.17	-6.5469	18.7528	0.91821	0.0:1.0:0.0:0.0	.	1507;1507	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1507	ENSP00000276204:L1507I;ENSP00000276202:L1507I	ENSP00000276202:L1507I	L	+	1	0	DOCK11	117667056	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.821000	0.39041	2.374000	0.81015	0.429000	0.28392	CTT		0.383	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
DOCK11	139818	broad.mit.edu	37	X	117809974	117809974	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:117809974C>A	ENST00000276202.7	+	47	5338	c.5275C>A	c.(5275-5277)Ctt>Att	p.L1759I	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1759I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1759	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1759I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAAAAAGAGACTTTTAGGCAC	0.299																																					p.L1759I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5275A	X						.						41.0	40.0	40.0					X																	117809974		2202	4295	6497	117694002	SO:0001583	missense	139818	exon47			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5275C>A	X.37:g.117809974C>A	ENSP00000276202:p.Leu1759Ile		117694002	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121481	0.77436	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.19669	2.13;2.13	5.57	5.57	0.84162	.	0.065871	0.64402	D	0.000010	T	0.39200	0.1069	M	0.62154	1.92	0.49299	D	0.999778	P;P	0.47545	0.897;0.897	P;P	0.55161	0.77;0.77	T	0.04621	-1.0938	10	0.39692	T	0.17	-9.555	17.4003	0.87458	0.0:1.0:0.0:0.0	.	1759;1759	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	1759	ENSP00000276204:L1759I;ENSP00000276202:L1759I	ENSP00000276202:L1759I	L	+	1	0	DOCK11	117694002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.724000	0.54962	2.322000	0.78497	0.600000	0.82982	CTT		0.299	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
IL13RA1	3597	broad.mit.edu	37	X	117910396	117910396	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:117910396G>T	ENST00000371666.3	+	10	1180	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	IL13RA1_ENST00000371637.3_Missense_Mutation_p.K170N	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	371					cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)	p.K371N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AAAGGCTCAAGATTATTATAT	0.378																																					p.K371N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1113T	X						.						70.0	62.0	65.0					X																	117910396		2203	4300	6503	117794424	SO:0001583	missense	3597	exon10			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1113G>T	X.37:g.117910396G>T	ENSP00000360730:p.Lys371Asn		117794424	NM_001560	O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273340	0.59649	.	.	ENSG00000131724	ENST00000371666;ENST00000371637	D	0.91686	-2.89	5.37	3.58	0.41010	.	0.078682	0.52532	D	0.000061	D	0.94225	0.8146	M	0.69823	2.125	0.34591	D	0.715487	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	D	0.95422	0.8508	10	0.87932	D	0	-21.3326	7.9716	0.30130	0.2055:0.0:0.7945:0.0	.	371;371	Q5JSL4;P78552	.;I13R1_HUMAN	N	371;170	ENSP00000360730:K371N	ENSP00000360700:K170N	K	+	3	2	IL13RA1	117794424	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.649000	0.46656	1.168000	0.42723	0.500000	0.49745	AAG		0.378	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560	
LONRF3	79836	broad.mit.edu	37	X	118145802	118145802	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:118145802C>T	ENST00000371628.3	+	8	1708	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	LONRF3_ENST00000422289.2_Silent_p.F303F|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Silent_p.F518F	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	559	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.F518F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCCTATTTTCGTGTGTACTA	0.443																																					p.F518F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1554T	X						.						339.0	255.0	283.0					X																	118145802		2203	4300	6503	118029830	SO:0001819	synonymous_variant	79836	exon7			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1677C>T	X.37:g.118145802C>T			118029830	NM_024778	Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365347	0.24684	.	.	ENSG00000175556	ENST00000439603	.	.	.	6.07	-1.72	0.08107	.	.	.	.	.	T	0.58595	0.2133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55685	-0.8102	4	.	.	.	-36.6924	12.4269	0.55553	0.0:0.1977:0.0:0.8023	.	.	.	.	C	325	.	.	R	+	1	0	LONRF3	118029830	0.870000	0.30015	0.982000	0.44146	0.983000	0.72400	-0.007000	0.12810	-0.416000	0.07473	-0.199000	0.12753	CGT		0.443	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778	
KIAA1210	57481	broad.mit.edu	37	X	118220598	118220598	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:118220598A>G	ENST00000402510.2	-	11	4594	c.4595T>C	c.(4594-4596)cTc>cCc	p.L1532P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1532								p.L1532P(1)|p.L1356P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TATTTTGGTGAGGTTCCCTGC	0.517																																					p.L1532P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4595C	X						.						85.0	77.0	79.0					X																	118220598		1912	4118	6030	118104626	SO:0001583	missense	57481	exon11			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4595T>C	X.37:g.118220598A>G	ENSP00000384670:p.Leu1532Pro		118104626	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721024	0.30503	.	.	ENSG00000250423	ENST00000402510	T	0.13420	2.59	5.07	1.2	0.21068	.	.	.	.	.	T	0.18841	0.0452	L	0.36672	1.1	0.18873	N	0.999988	D	0.69078	0.997	D	0.65010	0.931	T	0.13282	-1.0515	8	.	.	.	.	2.8126	0.05446	0.5659:0.0:0.2418:0.1923	.	1532	Q9ULL0	K1210_HUMAN	P	1532	ENSP00000384670:L1532P	.	L	-	2	0	RP13-347D8.6	118104626	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.351000	0.20096	-0.004000	0.14419	0.417000	0.27973	CTC		0.517	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
KIAA1210	57481	broad.mit.edu	37	X	118239094	118239094	+	Missense_Mutation	SNP	C	C	A	rs376855405		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:118239094C>A	ENST00000402510.2	-	7	928	c.929G>T	c.(928-930)cGa>cTa	p.R310L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	310								p.R310L(1)|p.R170L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGTCGGCGTCGGCGCGATGG	0.413																																					p.R310L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G929T	X						.						117.0	119.0	118.0					X																	118239094		2009	4158	6167	118123122	SO:0001583	missense	57481	exon7			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.929G>T	X.37:g.118239094C>A	ENSP00000384670:p.Arg310Leu		118123122	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	7.024	0.559290	0.13436	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10288	2.89	4.55	0.185	0.15096	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.42582	-0.9443	9	0.31617	T	0.26	.	6.7523	0.23493	0.0:0.2938:0.2522:0.454	.	310	Q9ULL0	K1210_HUMAN	L	310;146	ENSP00000384670:R310L	ENSP00000396164:R146L	R	-	2	0	RP13-347D8.5;RP13-347D8.6	118123122	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-0.136000	0.11475	-2.708000	0.00134	CGA		0.413	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
TMEM255A	55026	broad.mit.edu	37	X	119410866	119410866	+	Silent	SNP	G	G	A	rs201573550		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:119410866G>A	ENST00000309720.5	-	8	744	c.621C>T	c.(619-621)atC>atT	p.I207I	TMEM255A_ENST00000371352.1_Silent_p.I43I|TMEM255A_ENST00000371369.4_Silent_p.I183I|TMEM255A_ENST00000440464.1_Intron	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	207						integral component of membrane (GO:0016021)		p.I207I(1)									TGCTGACATCGATGTATTCGT	0.587													G|||	3	0.000794702	0.0	0.0029	3775	,	,		14117	0.0		0.0	False		,,,				2504	0.001				p.I207I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	X						.						258.0	187.0	211.0					X																	119410866		2203	4300	6503	119294894	SO:0001819	synonymous_variant	55026	exon8			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.621C>T	X.37:g.119410866G>A			119294894	NM_017938	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	CCDS14597.1																																																																																				0.587	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
CUL4B	8450	broad.mit.edu	37	X	119708410	119708410	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:119708410G>A	ENST00000404115.3	-	2	464	c.63C>T	c.(61-63)gaC>gaT	p.D21D	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	21	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D21D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACTCACCACCGTCTTTAGAGG	0.458																																					p.D21D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C63T	X						.						181.0	146.0	158.0					X																	119708410		2203	4300	6503	119592438	SO:0001819	synonymous_variant	8450	exon2			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.63C>T	X.37:g.119708410G>A			119592438	NM_003588	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	CCDS35379.1																																																																																				0.458	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588	
THOC2	57187	broad.mit.edu	37	X	122757090	122757090	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:122757090T>C	ENST00000245838.8	-	29	3579	c.3548A>G	c.(3547-3549)gAa>gGa	p.E1183G	THOC2_ENST00000355725.4_Missense_Mutation_p.E1183G|THOC2_ENST00000491737.1_Missense_Mutation_p.E1068G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1183					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.E1104G(1)|p.E1183G(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAACTCATTTTCAGGTATCAT	0.413																																					p.E1183G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3548G	X						.						154.0	139.0	144.0					X																	122757090		1866	4085	5951	122584771	SO:0001583	missense	57187	exon29			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3548A>G	X.37:g.122757090T>C	ENSP00000245838:p.Glu1183Gly		122584771	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.025263|4.025263	0.75390|0.75390	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.57636|.	0.2067|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.60575|.	0.988|.	P|.	0.60345|.	0.873|.	T|.	0.54410|.	-0.8298|.	9|.	0.30078|.	T|.	0.28|.	-19.9423|-19.9423	15.5329|15.5329	0.75977|0.75977	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1183|.	Q8NI27|.	THOC2_HUMAN|.	G|W	1183;1183;1068|277	.|.	ENSP00000245838:E1183G|.	E|X	-|-	2|3	0|0	THOC2|THOC2	122584771|122584771	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.816000|7.816000	0.86201|0.86201	2.053000|2.053000	0.61076|0.61076	0.437000|0.437000	0.28790|0.28790	GAA|TGA		0.413	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
TENM1	10178	broad.mit.edu	37	X	123515051	123515051	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:123515051G>A	ENST00000371130.3	-	31	7576	c.7513C>T	c.(7513-7515)Cgg>Tgg	p.R2505W	TENM1_ENST00000422452.2_Missense_Mutation_p.R2512W|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2505					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2507W(1)									TCAAGGCACCGTCCATCATTG	0.458																																					p.R2505W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7513T	X						.						135.0	129.0	131.0					X																	123515051		2201	4299	6500	123342732	SO:0001583	missense	10178	exon31			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7513C>T	X.37:g.123515051G>A	ENSP00000360171:p.Arg2505Trp		123342732	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449402	0.43531	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.83	2.78	0.32641	.	0.317683	0.35151	N	0.003413	T	0.81631	0.4863	N	0.24115	0.695	0.31384	N	0.678691	D;D;D	0.63046	0.978;0.978;0.992	B;B;P	0.51657	0.39;0.39;0.676	T	0.82926	-0.0215	10	0.72032	D	0.01	.	13.2906	0.60269	0.0:0.0:0.2875:0.7125	.	2511;2512;2505	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	2505;2512	ENSP00000360171:R2505W;ENSP00000403954:R2512W	ENSP00000360171:R2505W	R	-	1	2	ODZ1	123342732	0.994000	0.37717	0.999000	0.59377	0.999000	0.98932	2.565000	0.45939	0.585000	0.29608	0.600000	0.82982	CGG		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	broad.mit.edu	37	X	123519908	123519908	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:123519908T>C	ENST00000371130.3	-	28	5737	c.5674A>G	c.(5674-5676)Atg>Gtg	p.M1892V	TENM1_ENST00000422452.2_Missense_Mutation_p.M1899V|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1892					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M1894V(1)									AGGAGAAGCATCACAGACTGA	0.433																																					p.M1892V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5674G	X						.						81.0	68.0	73.0					X																	123519908		2203	4300	6503	123347589	SO:0001583	missense	10178	exon28			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5674A>G	X.37:g.123519908T>C	ENSP00000360171:p.Met1892Val		123347589	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	0.716	-0.785193	0.02907	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84442	-1.85;-1.81	5.42	5.42	0.78866	.	0.079368	0.85682	D	0.000000	T	0.70919	0.3279	N	0.16066	0.365	0.40539	D	0.981004	B;B;B	0.29716	0.255;0.255;0.013	B;B;B	0.29598	0.104;0.104;0.008	T	0.68957	-0.5272	10	0.02654	T	1	.	14.533	0.67939	0.0:0.0:0.0:1.0	.	1898;1899;1892	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	1892;1899	ENSP00000360171:M1892V;ENSP00000403954:M1899V	ENSP00000360171:M1892V	M	-	1	0	ODZ1	123347589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.153000	0.50685	1.812000	0.52913	0.486000	0.48141	ATG		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TENM1	10178	broad.mit.edu	37	X	123779183	123779183	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:123779183G>T	ENST00000371130.3	-	10	1749	c.1686C>A	c.(1684-1686)tcC>tcA	p.S562S	TENM1_ENST00000422452.2_Silent_p.S562S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	562	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S564S(1)									GCACAGGGCAGGAATCTGAAG	0.448																																					p.S562S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1686A	X						.						161.0	144.0	150.0					X																	123779183		2203	4300	6503	123606864	SO:0001819	synonymous_variant	10178	exon10			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1686C>A	X.37:g.123779183G>T			123606864	NM_014253	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
FRMPD4	9758	broad.mit.edu	37	X	12725710	12725710	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12725710C>T	ENST00000380682.1	+	13	1916	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	470	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I470I(1)|p.I460I(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAACAGGATCGAAATGTTTT	0.512																																					p.I470I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1410T	X						.						143.0	118.0	127.0					X																	12725710		2203	4300	6503	12635631	SO:0001819	synonymous_variant	9758	exon13			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1410C>T	X.37:g.12725710C>T			12635631	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.512	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
FRMPD4	9758	broad.mit.edu	37	X	12736204	12736204	+	Missense_Mutation	SNP	C	C	T	rs141229690		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12736204C>T	ENST00000380682.1	+	16	3765	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1087					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R1077C(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AACTGCCTTTCGCAAGGACAG	0.483																																					p.R1087C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3259T	X						.	C	CYS/ARG	1,3834		0,1,1631,571	126.0	122.0	123.0		3259	5.5	1.0	X	dbSNP_134	123	1,6727		0,1,2427,1872	no	missense	FRMPD4	NM_014728.3	180	0,2,4058,2443	TT,TC,CC,C		0.0149,0.0261,0.0189	probably-damaging	1087/1323	12736204	2,10561	2203	4300	6503	12646125	SO:0001583	missense	9758	exon16			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3259C>T	X.37:g.12736204C>T	ENSP00000370057:p.Arg1087Cys		12646125	NM_014728	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756579	0.69648	2.61E-4	1.49E-4	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08634	3.07	5.49	5.49	0.81192	.	0.060592	0.64402	D	0.000005	T	0.27205	0.0667	M	0.63428	1.95	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.65443	0.935;0.935	T	0.00668	-1.1618	10	0.87932	D	0	-14.0944	18.464	0.90749	0.0:1.0:0.0:0.0	.	1079;1087	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	1087;1078;1076	ENSP00000370057:R1087C	ENSP00000304583:R1076C	R	+	1	0	FRMPD4	12646125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.631000	0.54280	2.301000	0.77427	0.600000	0.82982	CGC		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
TLR7	51284	broad.mit.edu	37	X	12904027	12904027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12904027C>A	ENST00000380659.3	+	3	539	c.400C>A	c.(400-402)Ctg>Atg	p.L134M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	134					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L134M(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ATCCCTTTACCTGGATGGAAA	0.453																																					p.L134M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400A	X						.						68.0	70.0	69.0					X																	12904027		2203	4300	6503	12813948	SO:0001583	missense	51284	exon3			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.400C>A	X.37:g.12904027C>A	ENSP00000370034:p.Leu134Met		12813948	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795161	0.50208	.	.	ENSG00000196664	ENST00000380659	T	0.09817	2.94	5.62	2.88	0.33553	.	0.000000	0.64402	D	0.000008	T	0.31263	0.0791	M	0.82923	2.615	0.46241	D	0.998948	D	0.89917	1.0	D	0.87578	0.998	T	0.02109	-1.1212	10	0.87932	D	0	.	7.8943	0.29697	0.0:0.5183:0.0:0.4817	.	134	Q9NYK1	TLR7_HUMAN	M	134	ENSP00000370034:L134M	ENSP00000370034:L134M	L	+	1	2	TLR7	12813948	0.238000	0.23825	1.000000	0.80357	0.986000	0.74619	0.509000	0.22707	0.555000	0.29079	-0.205000	0.12727	CTG		0.453	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TLR7	51284	broad.mit.edu	37	X	12904837	12904837	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12904837C>A	ENST00000380659.3	+	3	1349	c.1210C>A	c.(1210-1212)Ctt>Att	p.L404I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	404					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L404I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGTTCTTGATCTTGGCACTAA	0.328																																					p.L404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210A	X						.						66.0	73.0	71.0					X																	12904837		2201	4299	6500	12814758	SO:0001583	missense	51284	exon3			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1210C>A	X.37:g.12904837C>A	ENSP00000370034:p.Leu404Ile		12814758	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008488	0.35415	.	.	ENSG00000196664	ENST00000380659	T	0.60424	0.19	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.64034	0.2562	M	0.80616	2.505	0.50313	D	0.999867	P	0.35107	0.484	B	0.42030	0.373	T	0.68202	-0.5471	10	0.62326	D	0.03	.	9.5943	0.39565	0.0:0.8416:0.0:0.1584	.	404	Q9NYK1	TLR7_HUMAN	I	404	ENSP00000370034:L404I	ENSP00000370034:L404I	L	+	1	0	TLR7	12814758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.242000	0.43106	2.434000	0.82447	0.600000	0.82982	CTT		0.328	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
DCAF12L2	340578	broad.mit.edu	37	X	125299656	125299656	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:125299656G>A	ENST00000360028.2	-	1	278	c.252C>T	c.(250-252)ccC>ccT	p.P84P	DCAF12L2_ENST00000538699.1_Silent_p.P84P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	84								p.P84P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCAGCAGCTCGGGCAGCCTCT	0.687																																					p.P84P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C252T	X						.						29.0	30.0	29.0					X																	125299656		2194	4281	6475	125127337	SO:0001819	synonymous_variant	340578	exon1			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.252C>T	X.37:g.125299656G>A			125127337	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.687	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
TLR8	51311	broad.mit.edu	37	X	12939078	12939078	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12939078A>C	ENST00000218032.6	+	2	2006	c.1919A>C	c.(1918-1920)aAt>aCt	p.N640T	TLR8_ENST00000311912.5_Missense_Mutation_p.N658T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	640					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.N658T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGTCTCAAGAATCTGACACGT	0.398																																					p.N640T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1919C	X						.						60.0	60.0	60.0					X																	12939078		2203	4297	6500	12848999	SO:0001583	missense	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1919A>C	X.37:g.12939078A>C	ENSP00000218032:p.Asn640Thr		12848999	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	3.630	-0.075673	0.07184	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.60171	0.21;0.21	5.82	4.67	0.58626	.	0.000000	0.43416	D	0.000575	T	0.52964	0.1767	L	0.59912	1.85	0.34464	D	0.702109	B;B	0.22080	0.064;0.064	B;B	0.24848	0.056;0.056	T	0.59526	-0.7438	10	0.46703	T	0.11	.	9.7431	0.40431	0.8538:0.0:0.1462:0.0	.	640;658	Q9NR97;D1CS70	TLR8_HUMAN;.	T	640;658	ENSP00000218032:N640T;ENSP00000312082:N658T	ENSP00000218032:N640T	N	+	2	0	TLR8	12848999	0.867000	0.29959	0.004000	0.12327	0.011000	0.07611	2.562000	0.45914	0.836000	0.34901	0.486000	0.48141	AAT		0.398	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TLR8	51311	broad.mit.edu	37	X	12939262	12939262	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:12939262C>A	ENST00000218032.6	+	2	2190	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	TLR8_ENST00000311912.5_Silent_p.L719L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	701					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L719L(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACAAACTACTCTTTTTAACTG	0.393																																					p.L701L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2103A	X						.						100.0	97.0	98.0					X																	12939262		2203	4300	6503	12849183	SO:0001819	synonymous_variant	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2103C>A	X.37:g.12939262C>A			12849183	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.393	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
SMARCA1	6594	broad.mit.edu	37	X	128645905	128645905	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:128645905C>T	ENST00000371122.4	-	6	815	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R229Q|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R229Q|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	229	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R229Q(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						AGGAATATTTCGGTAGTGTTT	0.383																																					p.R229Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	X						.						216.0	218.0	217.0					X																	128645905		2203	4300	6503	128473586	SO:0001583	missense	6594	exon6			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.686G>A	X.37:g.128645905C>T	ENSP00000360163:p.Arg229Gln		128473586	NM_003069	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520992	0.85495	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.5	5.5	0.81552	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000047	D	0.89329	0.6684	N	0.25380	0.74	0.58432	D	0.999997	P;P;P;P	0.41947	0.766;0.766;0.723;0.766	B;B;B;B	0.38880	0.284;0.284;0.187;0.284	D	0.89990	0.4107	10	0.49607	T	0.09	-7.189	18.3709	0.90406	0.0:1.0:0.0:0.0	.	208;229;229;229	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	Q	229;229;229;208	ENSP00000360162:R229Q;ENSP00000360164:R229Q;ENSP00000360163:R229Q;ENSP00000404275:R208Q	ENSP00000360162:R229Q	R	-	2	0	SMARCA1	128473586	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.807000	0.86032	2.279000	0.76181	0.600000	0.82982	CGA		0.383	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
OCRL	4952	broad.mit.edu	37	X	128720981	128720981	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:128720981G>T	ENST00000371113.4	+	20	2307	c.2142G>T	c.(2140-2142)gaG>gaT	p.E714D	OCRL_ENST00000357121.5_Missense_Mutation_p.E706D	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	714					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.E714D(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCTATTAGGAGAAATCCCTTC	0.408																																					p.E706D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2118T	X						.						187.0	197.0	193.0					X																	128720981		2203	4300	6503	128548662	SO:0001583	missense	4952	exon19			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2142G>T	X.37:g.128720981G>T	ENSP00000360154:p.Glu714Asp		128548662	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106953	0.37145	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94793	-3.47;-3.52	4.93	3.17	0.36434	Rho GTPase activation protein (1);	1.285610	0.05366	N	0.534558	D	0.94719	0.8296	L	0.54323	1.7	0.48762	D	0.999703	D;B	0.56521	0.976;0.016	P;B	0.52066	0.689;0.005	D	0.86025	0.1509	10	0.40728	T	0.16	.	9.2686	0.37657	0.1806:0.0:0.8194:0.0	.	706;714	Q01968-2;Q01968	.;OCRL_HUMAN	D	714;706	ENSP00000360154:E714D;ENSP00000349635:E706D	ENSP00000349635:E706D	E	+	3	2	OCRL	128548662	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	2.622000	0.46427	0.506000	0.28125	0.594000	0.82650	GAG		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
ZDHHC9	51114	broad.mit.edu	37	X	128957704	128957704	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:128957704G>T	ENST00000357166.6	-	5	829	c.438C>A	c.(436-438)atC>atA	p.I146I	AL359542.1_ENST00000582964.1_RNA|ZDHHC9_ENST00000491039.1_5'UTR|ZDHHC9_ENST00000371064.3_Silent_p.I146I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	146					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.I146I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GAGGCCGGAAGATCTTGCATG	0.512																																					p.I146I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C438A	X						.						140.0	130.0	134.0					X																	128957704		2203	4300	6503	128785385	SO:0001819	synonymous_variant	51114	exon5			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.438C>A	X.37:g.128957704G>T			128785385	NM_016032	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	CCDS35395.1	.	.	.	.	.	.	.	.	.	.	g	9.364	1.068720	0.20147	.	.	ENSG00000188706	ENST00000433917	.	.	.	5.66	4.79	0.61399	.	.	.	.	.	T	0.70527	0.3234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69228	-0.5200	4	.	.	.	-17.4512	14.7758	0.69732	0.0:0.0:0.8543:0.1457	.	.	.	.	Y	106	.	.	S	-	2	0	ZDHHC9	128785385	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.614000	0.54160	1.133000	0.42147	-0.229000	0.12294	TCT		0.512	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	
ELF4	2000	broad.mit.edu	37	X	129205132	129205132	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:129205132C>A	ENST00000308167.5	-	7	1071	c.692G>T	c.(691-693)tGg>tTg	p.W231L	ELF4_ENST00000335997.7_Missense_Mutation_p.W231L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.W231L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCGCTGGGTCCACTTGATGTA	0.537			T	ERG	AML																																p.W231L			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692T	X						.						149.0	123.0	132.0					X																	129205132		2203	4300	6503	129032813	SO:0001583	missense	2000	exon7			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.692G>T	X.37:g.129205132C>A	ENSP00000311280:p.Trp231Leu		129032813	NM_001421		Missense_Mutation	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935349	0.92458	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	D;D	0.88509	-2.39;-2.39	5.45	5.45	0.79879	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.93462	3.42	0.80722	D	1	D	0.60160	0.987	D	0.76575	0.988	D	0.96875	0.9642	10	0.87932	D	0	.	15.6014	0.76628	0.0:1.0:0.0:0.0	.	231	Q99607	ELF4_HUMAN	L	231	ENSP00000338608:W231L;ENSP00000311280:W231L	ENSP00000311280:W231L	W	-	2	0	ELF4	129032813	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.278000	0.76064	0.513000	0.50165	TGG		0.537	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
RAB33A	9363	broad.mit.edu	37	X	129318615	129318615	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:129318615G>T	ENST00000257017.4	+	2	1029	c.615G>T	c.(613-615)caG>caT	p.Q205H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	205					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q205H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAGGCCCAGAAATCCCTGC	0.512																																					p.Q205H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G615T	X						.						83.0	73.0	76.0					X																	129318615		2203	4300	6503	129146296	SO:0001583	missense	9363	exon2			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.615G>T	X.37:g.129318615G>T	ENSP00000257017:p.Gln205His		129146296	NM_004794	Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	7.795	0.712391	0.15306	.	.	ENSG00000134594	ENST00000257017	T	0.79845	-1.31	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	N	0.08118	0	0.58432	D	0.999999	B	0.15719	0.014	B	0.15484	0.013	T	0.52917	-0.8511	10	0.26408	T	0.33	-11.242	9.4102	0.38487	0.1666:0.0:0.8334:0.0	.	205	Q14088	RB33A_HUMAN	H	205	ENSP00000257017:Q205H	ENSP00000257017:Q205H	Q	+	3	2	RAB33A	129146296	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.573000	0.53856	1.000000	0.39049	0.436000	0.28706	CAG		0.512	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794	
ZNF280C	55609	broad.mit.edu	37	X	129339345	129339345	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:129339345G>T	ENST00000370978.4	-	17	2240	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	696					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.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TAAGCCGGAAGAATCAGCTAG	0.318																																					p.S696Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2087A	X						.						100.0	86.0	91.0					X																	129339345		2203	4299	6502	129167026	SO:0001583	missense	55609	exon17			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2087C>A	X.37:g.129339345G>T	ENSP00000360017:p.Ser696Tyr		129167026	NM_017666	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513755	0.27123	.	.	ENSG00000056277	ENST00000370978	T	0.02709	4.19	3.66	1.79	0.24919	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.05044	0.0135	L	0.36672	1.1	0.22531	N	0.999016	P	0.50819	0.939	P	0.55667	0.781	T	0.40021	-0.9585	9	0.72032	D	0.01	.	2.8874	0.05665	0.2514:0.2566:0.492:0.0	.	696	Q8ND82	Z280C_HUMAN	Y	696	ENSP00000360017:S696Y	ENSP00000360017:S696Y	S	-	2	0	ZNF280C	129167026	1.000000	0.71417	0.903000	0.35520	0.577000	0.36160	1.430000	0.34914	0.665000	0.31066	0.292000	0.19580	TCT		0.318	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
SLC25A14	9016	broad.mit.edu	37	X	129483269	129483269	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:129483269A>C	ENST00000218197.5	+	4	589	c.362A>C	c.(361-363)aAa>aCa	p.K121T	SLC25A14_ENST00000361980.5_Missense_Mutation_p.K118T|SLC25A14_ENST00000543953.1_Missense_Mutation_p.K86T|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000545805.1_Missense_Mutation_p.K121T|SLC25A14_ENST00000339231.3_Missense_Mutation_p.K118T	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	121					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.K121T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GGCACCATTAAAATTGGGATT	0.338																																					p.K121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A362C	X						.						125.0	99.0	108.0					X																	129483269		2203	4300	6503	129310950	SO:0001583	missense	9016	exon4			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.362A>C	X.37:g.129483269A>C	ENSP00000218197:p.Lys121Thr		129310950	NM_003951	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306097	0.81247	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	L	0.35341	1.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.83722	0.0193	10	0.87932	D	0	-11.3458	12.6529	0.56772	1.0:0.0:0.0:0.0	.	86;118;118;121	B7Z996;O95258-3;O95258-2;O95258	.;.;.;UCP5_HUMAN	T	121;121;86;121;118;118	ENSP00000402578:K121T;ENSP00000444642:K121T;ENSP00000445225:K86T;ENSP00000218197:K121T;ENSP00000354455:K118T;ENSP00000342797:K118T	ENSP00000218197:K121T	K	+	2	0	SLC25A14	129310950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.325000	0.90007	1.831000	0.53308	0.486000	0.48141	AAA		0.338	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	
GPR119	139760	broad.mit.edu	37	X	129519301	129519301	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:129519301G>T	ENST00000276218.2	-	1	210	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	41					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.L41I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GTGAAGCAGAGACTGACACCA	0.542																																					p.L41I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121A	X						.						227.0	194.0	205.0					X																	129519301		2203	4300	6503	129346982	SO:0001583	missense	139760	exon1			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.121C>A	X.37:g.129519301G>T	ENSP00000276218:p.Leu41Ile		129346982	NM_178471	Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575760	0.28092	.	.	ENSG00000147262	ENST00000276218	T	0.37411	1.2	5.06	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.332151	0.30320	N	0.009892	T	0.44561	0.1299	L	0.44542	1.39	0.27040	N	0.964029	D	0.63880	0.993	P	0.60609	0.877	T	0.31280	-0.9949	10	0.87932	D	0	-14.9141	8.1218	0.30976	0.1899:0.0:0.8101:0.0	.	41	Q8TDV5	GP119_HUMAN	I	41	ENSP00000276218:L41I	ENSP00000276218:L41I	L	-	1	0	GPR119	129346982	1.000000	0.71417	0.395000	0.26283	0.838000	0.47535	5.246000	0.65411	1.122000	0.41944	0.513000	0.50165	CTC		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471	
IGSF1	3547	broad.mit.edu	37	X	130413158	130413158	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:130413158G>T	ENST00000361420.3	-	11	1797				IGSF1_ENST00000370904.1_Intron|IGSF1_ENST00000370910.1_Intron|IGSF1_ENST00000370903.3_Missense_Mutation_p.S575Y|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1						regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTGCAAAAGAAATTGCTGC	0.572																																					p.S575Y												.	.	1	Unknown(1)	large_intestine(1)	c.C1724A	X						.						110.0	111.0	111.0					X																	130413158		2203	4300	6503	130240839	SO:0001627	intron_variant	3547	exon11			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1718-9C>A	X.37:g.130413158G>T			130240839	NM_001170961	B5MEG2|H9KV64|O15070|Q9NTC8	Intron	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558878	0.45590	.	.	ENSG00000147255	ENST00000370903	T	0.00682	5.86	4.38	4.38	0.52667	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.20196	N	0.99992	D	0.65815	0.995	D	0.72982	0.979	T	0.66830	-0.5824	8	.	.	.	.	11.2268	0.48888	0.0:0.0:1.0:0.0	.	14	C9JP68	.	Y	575	ENSP00000359940:S575Y	.	S	-	2	0	IGSF1	130240839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.528000	0.45624	2.419000	0.82065	0.594000	0.82650	TCT		0.572	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
IGSF1	3547	broad.mit.edu	37	X	130415813	130415813	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:130415813G>T	ENST00000361420.3	-	8	1431	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y	IGSF1_ENST00000370904.1_Missense_Mutation_p.S442Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.S442Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.S451Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	451	Ig-like C2-type 5.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.S451Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCATTCCAGAGAAAATTCCAG	0.483																																					p.S442Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325A	X						.						99.0	80.0	87.0					X																	130415813		2203	4300	6503	130243494	SO:0001583	missense	3547	exon7			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1352C>A	X.37:g.130415813G>T	ENSP00000355010:p.Ser451Tyr		130243494	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933955	0.34096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.03496	3.91;3.91;3.91;3.91	4.35	1.5	0.22942	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.697090	0.13215	N	0.404834	T	0.04048	0.0113	L	0.45352	1.415	0.31592	N	0.653768	B;B	0.27910	0.003;0.193	B;B	0.33890	0.005;0.172	T	0.31888	-0.9927	10	0.23891	T	0.37	.	5.5701	0.17192	0.113:0.3879:0.4991:0.0	.	442;451	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Y	442;451;442;451	ENSP00000359947:S442Y;ENSP00000355010:S451Y;ENSP00000359941:S442Y;ENSP00000359940:S451Y	ENSP00000355010:S451Y	S	-	2	0	IGSF1	130243494	0.927000	0.31430	0.923000	0.36655	0.992000	0.81027	0.045000	0.14013	0.187000	0.20147	0.594000	0.82650	TCT		0.483	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
IGSF1	3547	broad.mit.edu	37	X	130419171	130419171	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:130419171G>A	ENST00000361420.3	-	5	728	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	IGSF1_ENST00000370901.4_Silent_p.L217L|IGSF1_ENST00000370904.1_Silent_p.L208L|IGSF1_ENST00000370910.1_Silent_p.L208L|IGSF1_ENST00000370903.3_Silent_p.L217L|IGSF1_ENST00000370900.1_Silent_p.L217L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	217	Ig-like C2-type 2.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.L217L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCAGCTTCAGGGGGTTGCTG	0.537																																					p.L208L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C622T	X						.						96.0	74.0	81.0					X																	130419171		2203	4300	6503	130246852	SO:0001819	synonymous_variant	3547	exon4			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.649C>T	X.37:g.130419171G>A			130246852	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
OR13H1	347468	broad.mit.edu	37	X	130678061	130678061	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:130678061A>G	ENST00000338616.3	+	1	112	c.14A>G	c.(13-15)aAt>aGt	p.N5S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5S(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GCCATGGACAATGTCACAGCA	0.408																																					p.N5S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A14G	X						.						203.0	158.0	174.0					X																	130678061		2203	4300	6503	130505742	SO:0001583	missense	347468	exon1				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.14A>G	X.37:g.130678061A>G	ENSP00000340748:p.Asn5Ser		130505742	NM_001004486	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280621	0.23392	.	.	ENSG00000171054	ENST00000338616	T	0.02158	4.42	4.63	3.42	0.39159	.	0.356725	0.20241	U	0.096292	T	0.06735	0.0172	M	0.81614	2.55	0.09310	N	1	D	0.54207	0.965	P	0.50314	0.637	T	0.15093	-1.0449	10	0.66056	D	0.02	.	7.7699	0.29001	0.8967:0.0:0.1033:0.0	.	5	Q8NG92	O13H1_HUMAN	S	5	ENSP00000340748:N5S	ENSP00000340748:N5S	N	+	2	0	OR13H1	130505742	0.345000	0.24835	0.002000	0.10522	0.143000	0.21401	2.211000	0.42825	0.580000	0.29522	0.417000	0.27973	AAT		0.408	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
OR13H1	347468	broad.mit.edu	37	X	130678729	130678729	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:130678729C>T	ENST00000338616.3	+	1	780	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R228C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CATAAGGATTCGCTCACTCCA	0.468																																					p.R228C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682T	X						.						214.0	187.0	196.0					X																	130678729		2203	4300	6503	130506410	SO:0001583	missense	347468	exon1				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.682C>T	X.37:g.130678729C>T	ENSP00000340748:p.Arg228Cys		130506410	NM_001004486	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833907	0.16820	.	.	ENSG00000171054	ENST00000338616	T	0.40225	1.04	4.87	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.181151	0.26812	U	0.022362	T	0.55832	0.1945	M	0.70275	2.135	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.48352	-0.9043	10	0.87932	D	0	.	7.5844	0.27985	0.0:0.7427:0.1626:0.0947	.	228	Q8NG92	O13H1_HUMAN	C	228	ENSP00000340748:R228C	ENSP00000340748:R228C	R	+	1	0	OR13H1	130506410	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	0.324000	0.19610	0.471000	0.27319	-0.185000	0.12909	CGC		0.468	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
ATXN3L	92552	broad.mit.edu	37	X	13337601	13337601	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13337601G>T	ENST00000380622.2	-	1	917	c.453C>A	c.(451-453)ttC>ttA	p.F151L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	151	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.F151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCGAGCCAAGAAATTTGCAA	0.398																																					p.F151L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C453A	X						.						67.0	62.0	64.0					X																	13337601		1568	3582	5150	13247522	SO:0001583	missense	92552	exon1				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.453C>A	X.37:g.13337601G>T	ENSP00000369996:p.Phe151Leu		13247522	NM_001135995	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478045	0.26511	.	.	ENSG00000123594	ENST00000380622	T	0.50813	0.73	0.661	0.661	0.17874	.	0.090728	0.85682	D	0.000000	T	0.48660	0.1512	M	0.78916	2.43	0.51767	D	0.999934	B	0.29716	0.255	B	0.37780	0.258	T	0.50783	-0.8787	10	0.62326	D	0.03	.	6.936	0.24466	1.0E-4:0.0:0.9999:0.0	.	151	Q9H3M9	ATX3L_HUMAN	L	151	ENSP00000369996:F151L	ENSP00000369996:F151L	F	-	3	2	ATXN3L	13247522	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	1.154000	0.31688	0.579000	0.29504	0.422000	0.28245	TTC		0.398	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995	
FRMD7	90167	broad.mit.edu	37	X	131208175	131208175	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:131208175C>T	ENST00000298542.4	-	0	3198				MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000394334.2_Silent_p.D413D|MST4_ENST00000394335.2_Silent_p.D336D|MST4_ENST00000481105.1_Silent_p.D435D	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7						regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D413D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11124	0.0		0.0	False		,,,				2504	0.0				p.D336D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	X						.						99.0	97.0	98.0					X																	131208175		2203	4298	6501	131035856	SO:0001628	intergenic_variant	51765	exon11			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421		X.37:g.131208175C>T			131035856	NM_001042453	C0LLJ3|Q5JX99	Silent	SNP	ENST00000298542.4	37	CCDS35397.1																																																																																				0.363	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
CCDC160	347475	broad.mit.edu	37	X	133379235	133379235	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:133379235G>T	ENST00000517294.1	+	3	788	c.405G>T	c.(403-405)aaG>aaT	p.K135N	CCDC160_ENST00000370809.4_Missense_Mutation_p.K135N			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	135								p.K135N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						ACATAAGAAAGAAATTTATGG	0.333													G|||	1	0.000264901	0.0	0.0	3775	,	,		12742	0.0		0.0	False		,,,				2504	0.001				p.K135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G405T	X						.						21.0	19.0	20.0					X																	133379235		1819	4055	5874	133206901	SO:0001583	missense	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.405G>T	X.37:g.133379235G>T	ENSP00000427951:p.Lys135Asn		133206901	NM_001101357		Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710382	0.48517	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.12	2.93	0.34026	.	0.000000	0.53938	D	0.000042	T	0.17023	0.0409	L	0.34521	1.04	0.20638	N	0.99987	P	0.40731	0.728	B	0.33254	0.16	T	0.13361	-1.0512	9	0.46703	T	0.11	-17.5512	5.212	0.15322	0.1472:0.0:0.6533:0.1994	.	135	A6NGH7	CC160_HUMAN	N	135	.	ENSP00000359845:K135N	K	+	3	2	CCDC160	133206901	1.000000	0.71417	0.206000	0.23566	0.004000	0.04260	1.257000	0.32932	1.045000	0.40225	-0.205000	0.12727	AAG		0.333	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
CCDC160	347475	broad.mit.edu	37	X	133379515	133379515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:133379515G>T	ENST00000517294.1	+	3	1068	c.685G>T	c.(685-687)Gaa>Taa	p.E229*	CCDC160_ENST00000370809.4_Nonsense_Mutation_p.E229*			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	229								p.E229*(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCAAGCCAAAGAAGTCATCCA	0.363																																					p.E229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G685T	X						.						29.0	24.0	25.0					X																	133379515		1823	4062	5885	133207181	SO:0001587	stop_gained	347475	exon2			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.685G>T	X.37:g.133379515G>T	ENSP00000427951:p.Glu229*		133207181	NM_001101357		Nonsense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441466	0.83993	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.23	5.23	0.72850	.	0.119612	0.37136	N	0.002228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-19.8773	16.5553	0.84483	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000359845:E229X	E	+	1	0	CCDC160	133207181	0.998000	0.40836	0.993000	0.49108	0.060000	0.15804	1.397000	0.34543	2.303000	0.77524	0.513000	0.50165	GAA		0.363	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
HPRT1	3251	broad.mit.edu	37	X	133627615	133627615	+	Silent	SNP	C	C	T	rs148780933	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:133627615C>T	ENST00000298556.7	+	6	639	c.480C>T	c.(478-480)gtC>gtT	p.V160V	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	160					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.V160V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	TGGTCAAGGTCGCAAGGTATG	0.353													C|||	6	0.0015894	0.0045	0.0	3775	,	,		13264	0.0		0.0	False		,,,				2504	0.0				p.V160V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	X	GRCh37	CI070553	HPRT1	I	rs148780933	.	C		33,3802		0,30,3,1602,568	166.0	148.0	154.0		480	-10.8	0.5	X	dbSNP_134	154	0,6728		0,0,0,2428,1872	no	coding-synonymous	HPRT1	NM_000194.2		0,30,3,4030,2440	TT,TC,T,CC,C		0.0,0.8605,0.3124		160/219	133627615	33,10530	2203	4300	6503	133455281	SO:0001819	synonymous_variant	3251	exon6			M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.480C>T	X.37:g.133627615C>T			133455281	NM_000194	A6NHF0|B2R8M9	Silent	SNP	ENST00000298556.7	37	CCDS14641.1																																																																																				0.353	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194	
ZNF75D	7626	broad.mit.edu	37	X	134421114	134421114	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:134421114C>A	ENST00000370766.3	-	7	4197	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q401H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	496					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q496H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTGGAGTTTCTGGTGTCTAA	0.413																																					p.Q496H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1488T	X						.						132.0	120.0	124.0					X																	134421114		2203	4300	6503	134248780	SO:0001583	missense	7626	exon6			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1488G>T	X.37:g.134421114C>A	ENSP00000359802:p.Gln496His		134248780	NM_007131	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331310	0.41297	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.36520	3.17;1.25	3.14	-0.838	0.10762	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.271300	0.19696	N	0.108149	T	0.31734	0.0806	M	0.79123	2.44	0.25444	N	0.988061	B;B	0.24043	0.096;0.096	B;B	0.16722	0.016;0.016	T	0.24190	-1.0167	10	0.49607	T	0.09	.	4.3891	0.11332	0.0:0.4888:0.1693:0.3419	.	496;401	P51815;A6NK62	ZN75D_HUMAN;.	H	496;401	ENSP00000359802:Q496H;ENSP00000359800:Q401H	ENSP00000359800:Q401H	Q	-	3	2	ZNF75D	134248780	0.466000	0.25823	0.560000	0.28344	0.644000	0.38419	1.551000	0.36233	-0.340000	0.08388	0.422000	0.28245	CAG		0.413	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131	
ZNF449	203523	broad.mit.edu	37	X	134494640	134494640	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:134494640G>T	ENST00000339249.4	+	5	1336	c.1196G>T	c.(1195-1197)aGa>aTa	p.R399I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	399					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.R399I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACCAGAGAACCCATTCT	0.403																																					p.R399I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1196T	X						.						89.0	91.0	90.0					X																	134494640		2203	4299	6502	134322306	SO:0001583	missense	203523	exon5			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1196G>T	X.37:g.134494640G>T	ENSP00000339585:p.Arg399Ile		134322306	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272403	0.59649	.	.	ENSG00000173275	ENST00000339249	T	0.07688	3.17	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000160	T	0.27866	0.0686	M	0.87328	2.875	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.13124	-1.0521	10	0.87932	D	0	.	13.6946	0.62569	0.0:0.0:1.0:0.0	.	399	Q6P9G9	ZN449_HUMAN	I	399	ENSP00000339585:R399I	ENSP00000339585:R399I	R	+	2	0	ZNF449	134322306	0.956000	0.32656	1.000000	0.80357	0.827000	0.46813	2.340000	0.43974	2.190000	0.69967	0.529000	0.55759	AGA		0.403	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
ZNF449	203523	broad.mit.edu	37	X	134494720	134494720	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:134494720C>T	ENST00000339249.4	+	5	1416	c.1276C>T	c.(1276-1278)Ctg>Ttg	p.L426L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	426					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.L426L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAAAAGACATCTGAAAACTCA	0.378																																					p.L426L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1276T	X						.						75.0	79.0	77.0					X																	134494720		2203	4297	6500	134322386	SO:0001819	synonymous_variant	203523	exon5			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1276C>T	X.37:g.134494720C>T			134322386	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	CCDS14649.1																																																																																				0.378	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
SAGE1	55511	broad.mit.edu	37	X	134992598	134992598	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:134992598G>A	ENST00000370709.3	+	15	1889	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	SAGE1_ENST00000324447.3_Missense_Mutation_p.R630H|SAGE1_ENST00000537770.1_Missense_Mutation_p.R254H|SAGE1_ENST00000535938.1_Missense_Mutation_p.R630H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	630						nucleus (GO:0005634)		p.R630H(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACAACATCCGTGAAGAGAAG	0.488																																					p.R630H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1889A	X						.						137.0	110.0	119.0					X																	134992598		2203	4300	6503	134820264	SO:0001583	missense	55511	exon16			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1889G>A	X.37:g.134992598G>A	ENSP00000359743:p.Arg630His		134820264	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	4.723	0.134429	0.09032	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.35605	1.3;1.3;1.43;1.3	1.22	-0.186	0.13272	.	0.000000	0.64402	U	0.000002	T	0.12050	0.0293	N	0.04880	-0.145	0.09310	N	1	B;B	0.16396	0.017;0.005	B;B	0.15052	0.012;0.005	T	0.18903	-1.0322	10	0.13108	T	0.6	.	2.966	0.05908	0.6768:0.0:0.3232:0.0	.	254;630	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	630;630;254;630	ENSP00000323191:R630H;ENSP00000445959:R630H;ENSP00000438276:R254H;ENSP00000359743:R630H	ENSP00000323191:R630H	R	+	2	0	SAGE1	134820264	0.006000	0.16342	0.005000	0.12908	0.009000	0.06853	-0.158000	0.10070	-0.068000	0.12953	0.181000	0.17075	CGT		0.488	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
FHL1	2273	broad.mit.edu	37	X	135288732	135288732	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135288732C>T	ENST00000345434.3	+	2	222	c.141C>T	c.(139-141)atC>atT	p.I47I	FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Silent_p.I63I|FHL1_ENST00000539015.1_Silent_p.I76I|FHL1_ENST00000394155.2_Silent_p.I47I|FHL1_ENST00000370690.3_Silent_p.I47I|FHL1_ENST00000394153.2_Silent_p.I47I|FHL1_ENST00000535737.1_Silent_p.I47I|FHL1_ENST00000370676.3_Silent_p.I63I|FHL1_ENST00000543669.1_Silent_p.I47I			Q13642	FHL1_HUMAN	four and a half LIM domains 1	47	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.I47I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCAAGCCCATCGGTGCGGACT	0.562																																					p.I47I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C141T	X						.						165.0	147.0	153.0					X																	135288732		2203	4300	6503	135116398	SO:0001819	synonymous_variant	2273	exon3			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.141C>T	X.37:g.135288732C>T			135116398	NM_001159702	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	CCDS55507.1																																																																																				0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449	
MAP7D3	79649	broad.mit.edu	37	X	135326916	135326916	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135326916T>C	ENST00000316077.9	-	4	512	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	MAP7D3_ENST00000370663.5_Missense_Mutation_p.T80A|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T98A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	98					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.T395A(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGGAGCTTGGTCTTTCTTTCT	0.353																																					p.T98A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A292G	X						.						148.0	126.0	133.0					X																	135326916		1827	4076	5903	135154582	SO:0001583	missense	79649	exon4			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.292A>G	X.37:g.135326916T>C	ENSP00000318086:p.Thr98Ala		135154582	NM_001173517	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	0.423	-0.907137	0.02434	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.23	-0.559	0.11792	.	.	.	.	.	T	0.01976	0.0062	N	0.01576	-0.805	0.22787	N	0.998737	B;B;B;B	0.23591	0.053;0.088;0.053;0.088	B;B;B;B	0.25140	0.026;0.058;0.026;0.058	T	0.45614	-0.9249	9	0.02654	T	1	-7.285	9.144	0.36921	0.1457:0.6832:0.0:0.1712	.	80;98;98;98	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	A	98;98;80;98	ENSP00000359695:T98A;ENSP00000318086:T98A;ENSP00000359697:T80A;ENSP00000359694:T98A	ENSP00000318086:T98A	T	-	1	0	MAP7D3	135154582	0.842000	0.29525	0.003000	0.11579	0.408000	0.30992	0.783000	0.26802	-0.206000	0.10203	-0.513000	0.04457	ACC		0.353	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
GPR112	139378	broad.mit.edu	37	X	135405088	135405088	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135405088C>A	ENST00000394143.1	+	5	513	c.222C>A	c.(220-222)ttC>ttA	p.F74L	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.F74L|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.F11L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	74					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F74L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGATGGCCTTCTCTTATATTA	0.438																																					p.F74L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C222A	X						.						116.0	110.0	112.0					X																	135405088		2203	4300	6503	135232754	SO:0001583	missense	139378	exon5			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.222C>A	X.37:g.135405088C>A	ENSP00000377699:p.Phe74Leu		135232754	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604457	0.46423	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63744	3.08;3.08;-0.06	5.62	1.37	0.22104	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.69405	0.3107	M	0.62723	1.935	0.19300	N	0.999976	D	0.57257	0.979	P	0.60473	0.875	T	0.57341	-0.7828	9	0.87932	D	0	.	6.3431	0.21335	0.0:0.3904:0.0:0.6096	.	74	Q8IZF6	GP112_HUMAN	L	74;74;11	ENSP00000377699:F74L;ENSP00000359686:F74L;ENSP00000287534:F11L	ENSP00000287534:F11L	F	+	3	2	GPR112	135232754	0.997000	0.39634	0.902000	0.35471	0.319000	0.28217	0.399000	0.20916	0.192000	0.20272	0.513000	0.50165	TTC		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135432547	135432547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135432547C>A	ENST00000394143.1	+	6	6973	c.6682C>A	c.(6682-6684)Cta>Ata	p.L2228I	GPR112_ENST00000394141.1_Missense_Mutation_p.L2023I|GPR112_ENST00000370652.1_Missense_Mutation_p.L2228I|GPR112_ENST00000412101.1_Missense_Mutation_p.L2023I|GPR112_ENST00000287534.4_Missense_Mutation_p.L2165I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2228					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L2228I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCTTCCTTTCTATCTACGGA	0.468																																					p.L2228I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6682A	X						.						143.0	118.0	127.0					X																	135432547		2203	4300	6503	135260213	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6682C>A	X.37:g.135432547C>A	ENSP00000377699:p.Leu2228Ile		135260213	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	4.870	0.161794	0.09287	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34859	1.39;1.39;1.34;1.53;1.34	3.77	-7.55	0.01327	.	.	.	.	.	T	0.16642	0.0400	L	0.29908	0.895	0.09310	N	1	B;B;P	0.34977	0.23;0.123;0.478	B;B;B	0.28139	0.086;0.023;0.056	T	0.11690	-1.0577	9	0.48119	T	0.1	.	2.8105	0.05440	0.372:0.161:0.3676:0.0994	.	2165;2023;2228	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	2228;2228;2023;2165;2023	ENSP00000377699:L2228I;ENSP00000359686:L2228I;ENSP00000416526:L2023I;ENSP00000287534:L2165I;ENSP00000377697:L2023I	ENSP00000287534:L2165I	L	+	1	2	GPR112	135260213	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.488000	0.02308	-1.456000	0.01921	-0.557000	0.04193	CTA		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135487987	135487987	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135487987C>T	ENST00000394143.1	+	23	9082	c.8791C>T	c.(8791-8793)Cgg>Tgg	p.R2931W	GPR112_ENST00000394141.1_Missense_Mutation_p.R2726W|GPR112_ENST00000370652.1_Missense_Mutation_p.R2931W|GPR112_ENST00000412101.1_Missense_Mutation_p.R2726W|GPR112_ENST00000287534.4_Missense_Mutation_p.R2684W	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2931					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2931W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAGAAGACTCGGCGGAAGAT	0.458																																					p.R2931W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8791T	X						.						151.0	132.0	138.0					X																	135487987		2203	4300	6503	135315653	SO:0001583	missense	139378	exon23			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8791C>T	X.37:g.135487987C>T	ENSP00000377699:p.Arg2931Trp		135315653	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896092	0.33442	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.71	1.75	0.24633	GPCR, family 2-like (1);	.	.	.	.	T	0.35624	0.0938	N	0.17723	0.515	0.09310	N	1	P;B	0.44776	0.843;0.289	P;P	0.50231	0.466;0.635	T	0.15867	-1.0422	9	0.54805	T	0.06	.	7.4137	0.27032	0.0:0.4385:0.0:0.5615	.	2726;2931	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	W	2931;2931;2726;2684;2726	ENSP00000377699:R2931W;ENSP00000359686:R2931W;ENSP00000416526:R2726W;ENSP00000287534:R2684W;ENSP00000377697:R2726W	ENSP00000287534:R2684W	R	+	1	2	GPR112	135315653	0.000000	0.05858	0.315000	0.25238	0.332000	0.28634	-0.774000	0.04684	0.306000	0.22856	-0.380000	0.06706	CGG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
BRS3	680	broad.mit.edu	37	X	135570623	135570623	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135570623G>A	ENST00000370648.3	+	1	578	c.350G>A	c.(349-351)aGa>aAa	p.R117K	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	117					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.R117K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGTTCGGAAGAATTGGTTGT	0.453																																					p.R117K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G350A	X						.						152.0	140.0	144.0					X																	135570623		2203	4300	6503	135398289	SO:0001583	missense	680	exon1				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.350G>A	X.37:g.135570623G>A	ENSP00000359682:p.Arg117Lys		135398289	NM_001727		Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482485	0.26598	.	.	ENSG00000102239	ENST00000370648	T	0.71934	-0.61	5.92	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.131409	0.52532	N	0.000065	T	0.53481	0.1799	L	0.31926	0.97	0.33043	D	0.531687	B	0.10296	0.003	B	0.15052	0.012	T	0.50676	-0.8800	10	0.08381	T	0.77	-3.5829	9.1616	0.37025	0.2384:0.0:0.7616:0.0	.	117	P32247	BRS3_HUMAN	K	117	ENSP00000359682:R117K	ENSP00000359682:R117K	R	+	2	0	BRS3	135398289	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	3.585000	0.53943	0.274000	0.22072	0.594000	0.82650	AGA		0.453	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727	
EGFL6	25975	broad.mit.edu	37	X	13636108	13636108	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13636108G>T	ENST00000361306.1	+	8	1295	c.1038G>T	c.(1036-1038)gaG>gaT	p.E346D	EGFL6_ENST00000380602.3_Missense_Mutation_p.E346D	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	346					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.E346D(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTGAGGATGAGAAAAGAGAAG	0.403																																					p.E346D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1038T	X						.						53.0	56.0	55.0					X																	13636108		2203	4300	6503	13546029	SO:0001583	missense	25975	exon8			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1038G>T	X.37:g.13636108G>T	ENSP00000355126:p.Glu346Asp		13546029	NM_001167890	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	3.174	-0.169386	0.06461	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.70869	-0.52;-0.4	5.49	1.6	0.23607	.	0.686478	0.15092	N	0.281019	T	0.49779	0.1577	L	0.32530	0.975	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.002	T	0.19943	-1.0290	10	0.14252	T	0.57	.	2.0237	0.03514	0.164:0.1223:0.4321:0.2816	.	346;346	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	D	346	ENSP00000355126:E346D;ENSP00000369976:E346D	ENSP00000355126:E346D	E	+	3	2	EGFL6	13546029	0.991000	0.36638	0.009000	0.14445	0.021000	0.10359	0.698000	0.25571	0.481000	0.27557	0.589000	0.80489	GAG		0.403	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	
EGFL6	25975	broad.mit.edu	37	X	13645187	13645187	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13645187G>A	ENST00000361306.1	+	11	1600	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	EGFL6_ENST00000380602.3_Missense_Mutation_p.R449Q	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	448	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.R448Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GACATTGGCCGATTGAAACTT	0.458																																					p.R449Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346A	X						.						105.0	100.0	102.0					X																	13645187		2203	4300	6503	13555108	SO:0001583	missense	25975	exon11			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1343G>A	X.37:g.13645187G>A	ENSP00000355126:p.Arg448Gln		13555108	NM_001167890	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829076	0.71258	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.02158	4.42;4.42	4.85	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.128919	0.51477	D	0.000093	T	0.12092	0.0294	M	0.79693	2.465	0.36203	D	0.850888	D;D	0.89917	0.996;1.0	P;D	0.81914	0.811;0.995	T	0.03503	-1.1030	10	0.59425	D	0.04	.	12.4872	0.55879	0.0838:0.0:0.9162:0.0	.	449;448	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	Q	448;449	ENSP00000355126:R448Q;ENSP00000369976:R449Q	ENSP00000355126:R448Q	R	+	2	0	EGFL6	13555108	0.999000	0.42202	0.022000	0.16811	0.747000	0.42532	4.015000	0.57152	0.839000	0.34971	0.600000	0.82982	CGA		0.458	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	
BRS3	680	broad.mit.edu	37	X	135574341	135574341	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135574341G>T	ENST00000370648.3	+	3	1235	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	336					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S336I(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGAGCAAAAGCTTCCAGAAG	0.502																																					p.S336I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007T	X						.						145.0	133.0	137.0					X																	135574341		2203	4300	6503	135402007	SO:0001583	missense	680	exon3				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.1007G>T	X.37:g.135574341G>T	ENSP00000359682:p.Ser336Ile		135402007	NM_001727		Missense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776479	0.31411	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.81	4.01	0.46588	.	0.213183	0.39210	N	0.001422	T	0.35828	0.0945	L	0.38175	1.15	0.23361	N	0.997838	P	0.36789	0.57	B	0.40066	0.318	T	0.18178	-1.0345	10	0.54805	T	0.06	-8.034	17.6475	0.88152	0.0:0.4432:0.5568:0.0	.	336	P32247	BRS3_HUMAN	I	336	ENSP00000359682:S336I	ENSP00000359682:S336I	S	+	2	0	BRS3	135402007	0.988000	0.35896	1.000000	0.80357	0.627000	0.37826	0.575000	0.23729	0.571000	0.29365	-0.185000	0.12909	AGC		0.502	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727	
ARHGEF6	9459	broad.mit.edu	37	X	135751652	135751652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135751652C>A	ENST00000250617.6	-	21	3384	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E573*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E600*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E573*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	727					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E727*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAGTTCTCTGACCTCG	0.398																																					p.E727X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2179T	X						.						100.0	92.0	94.0					X																	135751652		2203	4300	6503	135579318	SO:0001587	stop_gained	9459	exon21			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2179G>T	X.37:g.135751652C>A	ENSP00000250617:p.Glu727*		135579318	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Nonsense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	42	9.244519	0.99111	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8569	0.92255	0.0:1.0:0.0:0.0	.	.	.	.	X	727;573;573;573;600	.	ENSP00000250617:E727X	E	-	1	0	ARHGEF6	135579318	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.947000	0.75959	2.399000	0.81585	0.506000	0.49869	GAA		0.398	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
TCEANC	170082	broad.mit.edu	37	X	13681237	13681237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13681237G>T	ENST00000380600.1	+	2	697	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Nonsense_Mutation_p.E204*|TCEANC_ENST00000544987.1_Nonsense_Mutation_p.E204*|TCEANC_ENST00000314720.4_Nonsense_Mutation_p.E234*			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	204	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E204*(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CTTTGCAAGAGAAATTGAAGA	0.358																																					p.E234X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G700T	X						.						61.0	57.0	58.0					X																	13681237		1835	4083	5918	13591158	SO:0001587	stop_gained	170082	exon4				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.610G>T	X.37:g.13681237G>T	ENSP00000369974:p.Glu204*		13591158	NM_152634	A6NI06|B2RDM3	Nonsense_Mutation	SNP	ENST00000380600.1	37		.	.	.	.	.	.	.	.	.	.	G	39	7.545359	0.98348	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	.	.	.	5.26	3.42	0.39159	.	0.394051	0.25135	N	0.032873	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.0911	0.72195	0.0:0.2603:0.7397:0.0	.	.	.	.	X	204;204;234;204	.	ENSP00000313886:E234X	E	+	1	0	TCEANC	13591158	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.678000	0.46900	0.489000	0.27749	0.600000	0.82982	GAA		0.358	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634	
ARHGEF6	9459	broad.mit.edu	37	X	135757193	135757193	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:135757193C>T	ENST00000250617.6	-	19	3213	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.A516T|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.A543T|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.A516T	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	670					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A670T(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAAAATTTGCGCTGGTGCAG	0.398																																					p.A670T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2008A	X						.						156.0	136.0	142.0					X																	135757193		2203	4300	6503	135584859	SO:0001583	missense	9459	exon19			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2008G>A	X.37:g.135757193C>T	ENSP00000250617:p.Ala670Thr		135584859	NM_004840	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897056	0.52121	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.55413	0.53;0.62;0.62;0.52	5.52	4.66	0.58398	.	0.096519	0.64402	N	0.000001	T	0.64170	0.2574	L	0.45698	1.435	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.844	T	0.60347	-0.7281	10	0.30078	T	0.28	.	13.3755	0.60736	0.0:0.9224:0.0:0.0776	.	543;670	B7Z3C7;Q15052	.;ARHG6_HUMAN	T	670;516;516;516;543	ENSP00000250617:A670T;ENSP00000359654:A516T;ENSP00000359656:A516T;ENSP00000439483:A543T	ENSP00000250617:A670T	A	-	1	0	ARHGEF6	135584859	1.000000	0.71417	0.076000	0.20297	0.069000	0.16628	4.389000	0.59639	1.095000	0.41419	0.600000	0.82982	GCA		0.398	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	
GPR101	83550	broad.mit.edu	37	X	136113163	136113163	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:136113163G>A	ENST00000298110.1	-	1	670	c.671C>T	c.(670-672)gCt>gTt	p.A224V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A224V(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GTACAGCAGAGCATGCTGCCT	0.517																																					p.A224V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C671T	X						.						100.0	88.0	92.0					X																	136113163		2203	4300	6503	135940829	SO:0001583	missense	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.671C>T	X.37:g.136113163G>A	ENSP00000298110:p.Ala224Val		135940829	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303045	0.81136	.	.	ENSG00000165370	ENST00000298110	T	0.37235	1.21	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33610	N	0.004736	T	0.56001	0.1956	L	0.52905	1.665	0.53005	D	0.999961	D	0.89917	1.0	D	0.91635	0.999	T	0.57923	-0.7727	10	0.66056	D	0.02	-11.9732	15.4692	0.75429	0.0:0.0:1.0:0.0	.	224	Q96P66	GP101_HUMAN	V	224	ENSP00000298110:A224V	ENSP00000298110:A224V	A	-	2	0	GPR101	135940829	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	5.711000	0.68400	2.245000	0.73994	0.600000	0.82982	GCT		0.517	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
CSF2RA	1438	broad.mit.edu	37	X	1401670	1401670	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1401670C>T	ENST00000381524.3	+	3	260	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CSF2RA_ENST00000355805.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.S25L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.S25L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	25					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S25L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGAGAAATCGGGTAAGTAT	0.532																																					p.S25L	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C74T	X						.						238.0	239.0	239.0					X																	1401670		2203	4296	6499	1361670	SO:0001583	missense	1438	exon3			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.74C>T	X.37:g.1401670C>T	ENSP00000370935:p.Ser25Leu		1361670	NM_172245	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.150	-1.092816	0.01858	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94184	-3.08;-3.08;-3.37;-3.08;0.87;1.86;-3.14;0.85;1.11;-2.93;-3.37	1.21	-2.42	0.06542	.	.	.	.	.	D	0.84853	0.5564	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.65841	-0.6070	8	0.42905	T	0.14	.	0.1616	0.00104	0.3587:0.2211:0.2031:0.2171	.	25;25;25;25;25;25	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	L	25	ENSP00000370940:S25L;ENSP00000416437:S25L;ENSP00000354836:S25L;ENSP00000370935:S25L;ENSP00000410667:S25L;ENSP00000397452:S25L;ENSP00000370920:S25L;ENSP00000348058:S25L;ENSP00000347606:S25L;ENSP00000394227:S25L;ENSP00000370911:S25L	ENSP00000347606:S25L	S	+	2	0	CSF2RA	1361670	0.035000	0.19736	0.000000	0.03702	0.002000	0.02628	-0.475000	0.06599	-2.065000	0.00887	-0.630000	0.03990	TCG		0.532	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
CSF2RA	1438	broad.mit.edu	37	X	1407442	1407442	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1407442C>T	ENST00000381524.3	+	5	436	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	CSF2RA_ENST00000355805.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R84C|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R84C|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R84C|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R84C			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	84					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R84C(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGCACATTTCGTGAAATTTG	0.428																																					p.R84C	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.C250T	X						.						365.0	335.0	345.0					X																	1407442		2203	4296	6499	1367442	SO:0001583	missense	1438	exon5			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.250C>T	X.37:g.1407442C>T	ENSP00000370935:p.Arg84Cys		1367442	NM_172245	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	3.337	-0.135522	0.06711	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94092	-3.11;-3.11;-3.35;-3.11;0.88;1.87;-3.13;0.86;1.17;-2.92;-3.35	0.912	-0.229	0.13094	.	14.760800	0.01967	U	0.043797	D	0.88633	0.6489	.	.	.	0.09310	N	0.999995	B;B;B;B;B;B	0.14438	0.01;0.005;0.002;0.002;0.002;0.0	B;B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.001;0.0	T	0.75213	-0.3397	9	0.66056	D	0.02	.	4.3815	0.11297	0.0:0.5726:0.4274:0.0	.	84;84;84;84;84;84	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	C	84	ENSP00000370940:R84C;ENSP00000416437:R84C;ENSP00000354836:R84C;ENSP00000370935:R84C;ENSP00000410667:R84C;ENSP00000397452:R84C;ENSP00000370920:R84C;ENSP00000348058:R84C;ENSP00000347606:R84C;ENSP00000394227:R84C;ENSP00000370911:R84C	ENSP00000347606:R84C	R	+	1	0	CSF2RA	1367442	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-2.265000	0.01172	-0.099000	0.12263	0.358000	0.22013	CGT		0.428	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
RAB9A	9367	broad.mit.edu	37	X	13727175	13727175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13727175G>T	ENST00000464506.1	+	3	589	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	104					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E104*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGGAAGAAAGAATTCATATA	0.413																																					p.E104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G310T	X						.						98.0	96.0	97.0					X																	13727175		2203	4300	6503	13637096	SO:0001587	stop_gained	9367	exon2			U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.310G>T	X.37:g.13727175G>T	ENSP00000420127:p.Glu104*		13637096	NM_001195328	A8K390|Q6ICN1	Nonsense_Mutation	SNP	ENST00000464506.1	37	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	G	37	5.996250	0.97184	.	.	ENSG00000123595	ENST00000464506	.	.	.	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6318	13.7172	0.62705	0.0772:0.0:0.9228:0.0	.	.	.	.	X	104	.	.	E	+	1	0	RAB9A	13637096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.606000	0.98325	1.044000	0.40200	0.594000	0.82650	GAA		0.413	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251	
OFD1	8481	broad.mit.edu	37	X	13762615	13762615	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13762615C>T	ENST00000340096.6	+	6	821	c.494C>T	c.(493-495)tCg>tTg	p.S165L	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S165L|OFD1_ENST00000398395.3_Missense_Mutation_p.S165L|OFD1_ENST00000380567.1_Missense_Mutation_p.S25L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	165					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.S165L(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CAGACAAGTTCGACATTTAAC	0.299																																					p.S165L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C494T	X						.						70.0	60.0	63.0					X																	13762615		2203	4299	6502	13672536	SO:0001583	missense	8481	exon6			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.494C>T	X.37:g.13762615C>T	ENSP00000344314:p.Ser165Leu		13672536	NM_003611	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197480	0.38806	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.96168	-3.91;-3.68;-3.93;-1.75	5.34	3.58	0.41010	.	1.230950	0.05298	N	0.522451	D	0.91106	0.7200	L	0.38531	1.155	0.09310	N	1	P;B;B;B	0.35600	0.511;0.143;0.219;0.268	B;B;B;B	0.22601	0.04;0.017;0.034;0.023	T	0.79438	-0.1803	10	0.20519	T	0.43	1.239	10.9727	0.47448	0.0:0.8457:0.0:0.1543	.	165;165;25;165	A8K2T9;O75665-3;A6NF31;O75665	.;.;.;OFD1_HUMAN	L	165;165;165;25;28	ENSP00000369923:S165L;ENSP00000381432:S165L;ENSP00000344314:S165L;ENSP00000369941:S25L	ENSP00000344314:S165L	S	+	2	0	OFD1	13672536	0.010000	0.17322	0.005000	0.12908	0.316000	0.28119	0.936000	0.28938	0.623000	0.30267	0.544000	0.68410	TCG		0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	
OFD1	8481	broad.mit.edu	37	X	13769387	13769387	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:13769387G>T	ENST00000340096.6	+	10	1282	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Nonsense_Mutation_p.E319*|OFD1_ENST00000380567.1_Nonsense_Mutation_p.E179*	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	319					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.E319*(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTCCAGGAAGAAAAACATAA	0.343																																					p.E319X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G955T	X						.						52.0	49.0	50.0					X																	13769387		2203	4299	6502	13679308	SO:0001587	stop_gained	8481	exon10			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.955G>T	X.37:g.13769387G>T	ENSP00000344314:p.Glu319*		13679308	NM_003611	B9ZVU5|O75666|Q4VAK4	Nonsense_Mutation	SNP	ENST00000340096.6	37	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	36	5.893911	0.97074	.	.	ENSG00000046651	ENST00000398395;ENST00000340096;ENST00000380567	.	.	.	5.76	3.96	0.45880	.	0.183254	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-10.8547	6.5561	0.22462	0.0722:0.1267:0.6671:0.134	.	.	.	.	X	319;319;179	.	ENSP00000344314:E319X	E	+	1	0	OFD1	13679308	1.000000	0.71417	0.153000	0.22517	0.380000	0.30137	4.925000	0.63425	0.574000	0.29417	0.600000	0.82982	GAA		0.343	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	
GPR101	83550	broad.mit.edu	37	X	136113507	136113507	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:136113507G>A	ENST00000298110.1	-	1	326	c.327C>T	c.(325-327)agC>agT	p.S109S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.S109S(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTGGGTGAGGCTAACCAGGG	0.612																																					p.S109S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	X						.						72.0	54.0	60.0					X																	136113507		2203	4300	6503	135941173	SO:0001819	synonymous_variant	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.327C>T	X.37:g.136113507G>A			135941173	NM_054021	Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	CCDS14662.1																																																																																				0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
FGF13	2258	broad.mit.edu	37	X	137717685	137717685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:137717685C>A	ENST00000315930.6	-	4	1195	c.534G>T	c.(532-534)gaG>gaT	p.E178D	FGF13_ENST00000370603.3_Missense_Mutation_p.E188D|FGF13_ENST00000305414.4_Missense_Mutation_p.E125D|FGF13_ENST00000441825.2_Missense_Mutation_p.E159D|FGF13_ENST00000541469.1_Missense_Mutation_p.E132D	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	178	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.E178D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTCATGATCTCTCCTTCTT	0.408																																					p.E159D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G477T	X						.						213.0	178.0	190.0					X																	137717685		2203	4300	6503	137545351	SO:0001583	missense	2258	exon7			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.534G>T	X.37:g.137717685C>A	ENSP00000322390:p.Glu178Asp		137545351	NM_001139501	B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910084	0.52439	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	6.17	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	L	0.32530	0.975	0.52099	D	0.999944	B;B;B;B	0.19583	0.007;0.037;0.003;0.003	B;B;B;B	0.27500	0.017;0.08;0.006;0.024	T	0.61232	-0.7104	10	0.32370	T	0.25	.	4.3126	0.10977	0.0:0.5501:0.0:0.4499	.	132;188;125;178	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	D	178;125;159;188;132;188;194	ENSP00000322390:E178D;ENSP00000303391:E125D;ENSP00000409276:E159D;ENSP00000359635:E188D;ENSP00000437903:E132D;ENSP00000396198:E188D;ENSP00000406916:E194D	ENSP00000303391:E125D	E	-	3	2	FGF13	137545351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.534000	0.45676	1.352000	0.45808	0.600000	0.82982	GAG		0.408	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114	
CSF2RA	1438	broad.mit.edu	37	X	1428338	1428338	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1428338G>A	ENST00000381524.3	+	13	1355	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R257H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355432.3_Silent_p.P330P|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R424H|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R390H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R390H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	390					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.P330P(1)|p.R390H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAAGGCTACCGCGAAGAGGTC	0.547																																					p.R390H	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1169A	X						.						198.0	186.0	190.0					X																	1428338		2203	4296	6499	1388338	SO:0001583	missense	1438	exon13			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1169G>A	X.37:g.1428338G>A	ENSP00000370935:p.Arg390His		1388338	NM_172245	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	4.342	0.062993	0.08388	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000501036;ENST00000381524;ENST00000417535	D;D;D;D;D	0.93859	-3.03;-3.03;-3.3;-3.03;-2.89	0.69	-0.885	0.10593	.	.	.	.	.	T	0.81259	0.4785	.	.	.	0.09310	N	1	B;B	0.31459	0.324;0.14	B;B	0.15484	0.013;0.009	T	0.68930	-0.5279	7	0.15066	T	0.55	.	.	.	.	.	424;390	A7J003;P15509	.;CSF2R_HUMAN	H	390;390;257;390;424	ENSP00000370940:R390H;ENSP00000416437:R390H;ENSP00000440491:R257H;ENSP00000370935:R390H;ENSP00000394227:R424H	ENSP00000370935:R390H	R	+	2	0	CSF2RA	1388338	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.125000	0.15749	-0.255000	0.09486	0.110000	0.15639	CGC		0.547	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
ATP11C	286410	broad.mit.edu	37	X	138825742	138825742	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:138825742G>T	ENST00000327569.3	-	26	3113	c.3015C>A	c.(3013-3015)gtC>gtA	p.V1005V	ATP11C_ENST00000361648.2_Silent_p.V1005V|ATP11C_ENST00000370543.1_Silent_p.V1005V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.V1005V|ATP11C_ENST00000370557.1_Silent_p.V999V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1005					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V1005V(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGAATACTAAGACTGTAAAAA	0.259																																					p.V1005V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3015A	X						.						42.0	34.0	37.0					X																	138825742		2195	4272	6467	138653408	SO:0001819	synonymous_variant	286410	exon26			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3015C>A	X.37:g.138825742G>T			138653408	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872127	0.17322	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.57	4.7	0.59300	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48937	-0.8990	4	.	.	.	.	3.46	0.07529	0.0935:0.1788:0.5637:0.1641	.	.	.	.	I	38	.	.	L	-	1	0	ATP11C	138653408	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.451000	0.21779	2.349000	0.79799	0.529000	0.55759	CTT		0.259	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
CXorf66	347487	broad.mit.edu	37	X	139038777	139038777	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:139038777A>C	ENST00000370540.1	-	3	387	c.364T>G	c.(364-366)Tca>Gca	p.S122A		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	122	Ser-rich.					integral component of membrane (GO:0016021)		p.S122A(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGACTCGATGAATCAGATGAC	0.443																																					p.S122A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T364G	X						.						242.0	199.0	214.0					X																	139038777		2203	4300	6503	138866443	SO:0001583	missense	347487	exon3				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.364T>G	X.37:g.139038777A>C	ENSP00000359571:p.Ser122Ala		138866443	NM_001013403		Missense_Mutation	SNP	ENST00000370540.1	37	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	3.431	-0.116101	0.06881	.	.	ENSG00000203933	ENST00000370540	T	0.43688	0.94	4.21	1.27	0.21489	.	1.837470	0.03168	N	0.170302	T	0.26376	0.0644	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.14309	-1.0477	9	.	.	.	0.2858	5.9878	0.19444	0.1175:0.4652:0.4173:0.0	.	122	Q5JRM2	CX066_HUMAN	A	122	ENSP00000359571:S122A	.	S	-	1	0	CXorf66	138866443	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.304000	0.19228	0.106000	0.17784	-0.290000	0.09829	TCA		0.443	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403	
MAGEC3	139081	broad.mit.edu	37	X	140985436	140985436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:140985436G>T	ENST00000298296.1	+	8	1750	c.1750G>T	c.(1750-1752)Gaa>Taa	p.E584*	MAGEC3_ENST00000544766.1_Missense_Mutation_p.R333I|MAGEC3_ENST00000409007.1_Missense_Mutation_p.R333I|MAGEC3_ENST00000443323.2_Missense_Mutation_p.R253I|MAGEC3_ENST00000536088.1_Missense_Mutation_p.R333I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	584	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E584*(1)|p.R333I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGCAAGAGAAGTCTTAGA	0.493																																					p.E584X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(2)	c.G1750T	X						.						71.0	72.0	71.0					X																	140985436		2203	4300	6503	140813102	SO:0001587	stop_gained	139081	exon8			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1750G>T	X.37:g.140985436G>T	ENSP00000298296:p.Glu584*		140813102	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Nonsense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.00|13.00	2.106433|2.106433	0.37145|0.37145	.|.	.|.	ENSG00000165509|ENSG00000165509	ENST00000298296|ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	.|T;T;T;T	.|0.04970	.|3.52;3.52;3.52;3.52	1.25|1.25	-2.5|-2.5	0.06384|0.06384	.|.	.|.	.|.	.|.	.|.	.|T	.|0.06416	.|0.0165	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.22346	.|0.068	.|B	.|0.34346	.|0.18	.|T	.|0.45352	.|-0.9267	.|8	0.02654|0.87932	T|D	1|0	.|.	5.2174|5.2174	0.15350|0.15350	0.0:0.0:0.4599:0.5401|0.0:0.0:0.4599:0.5401	.|.	.|333	.|Q3SYA7	.|.	X|I	584|333;253;333;333	.|ENSP00000441107:R333I;ENSP00000438254:R253I;ENSP00000440444:R333I;ENSP00000386566:R333I	ENSP00000298296:E584X|ENSP00000386566:R333I	E|R	+|+	1|2	0|0	MAGEC3|MAGEC3	140813102|140813102	0.000000|0.000000	0.05858|0.05858	0.125000|0.125000	0.21846|0.21846	0.052000|0.052000	0.14988|0.14988	-1.250000|-1.250000	0.02885|0.02885	-0.878000|-0.878000	0.04007|0.04007	0.284000|0.284000	0.19432|0.19432	GAA|AGA		0.493	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
MAGEC1	9947	broad.mit.edu	37	X	140994174	140994174	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:140994174T>C	ENST00000285879.4	+	4	1270	c.984T>C	c.(982-984)agT>agC	p.S328S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	328								p.S328S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTCACAGTACTTTTGAGG	0.478										HNSCC(15;0.026)																											p.S328S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T984C	X						.						114.0	115.0	114.0					X																	140994174		2201	4293	6494	140821840	SO:0001819	synonymous_variant	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.984T>C	X.37:g.140994174T>C			140821840	NM_005462	A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC2	51438	broad.mit.edu	37	X	141291179	141291179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:141291179C>A	ENST00000247452.3	-	3	942	c.595G>T	c.(595-597)Gaa>Taa	p.E199*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	199	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E199*(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCACTTCTATCAGGGCA	0.483										HNSCC(46;0.14)																											p.E199X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G595T	X						.						116.0	111.0	113.0					X																	141291179		2203	4300	6503	141118845	SO:0001587	stop_gained	51438	exon3			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.595G>T	X.37:g.141291179C>A	ENSP00000354660:p.Glu199*		141118845	NM_016249	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Nonsense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	22.6	4.313698	0.81358	.	.	ENSG00000046774	ENST00000247452	.	.	.	0.988	0.988	0.19796	.	0.064372	0.64402	U	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.9988	0.14253	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000354660:E199X	E	-	1	0	MAGEC2	141118845	0.000000	0.05858	0.005000	0.12908	0.184000	0.23303	-0.045000	0.12003	0.770000	0.33336	0.284000	0.19432	GAA		0.483	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
SPANXN4	441525	broad.mit.edu	37	X	142121906	142121906	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:142121906G>T	ENST00000446864.1	+	2	271	c.174G>T	c.(172-174)aaG>aaT	p.K58N	SPANXN4_ENST00000370504.3_Missense_Mutation_p.K57N	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	58								p.K58N(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCAGGAAGAATAAGAAAA	0.403																																					p.K58N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G174T	X						.						48.0	43.0	44.0					X																	142121906		1878	4087	5965	141949572	SO:0001583	missense	441525	exon2			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.174G>T	X.37:g.142121906G>T	ENSP00000405210:p.Lys58Asn		141949572	NM_001009613	Q0ZNK6|Q5W0S6	Missense_Mutation	SNP	ENST00000446864.1	37	CCDS48178.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937097	0.34189	.	.	ENSG00000189326	ENST00000446864;ENST00000370504	T;T	0.09350	2.99;2.99	0.766	0.766	0.18476	.	.	.	.	.	T	0.07098	0.0180	.	.	.	0.09310	N	1	P	0.47350	0.894	B	0.39027	0.288	T	0.34179	-0.9839	7	0.34782	T	0.22	.	.	.	.	.	58	Q5MJ08	SPXN4_HUMAN	N	58;57	ENSP00000405210:K58N;ENSP00000359535:K57N	ENSP00000359535:K57N	K	+	3	2	SPANXN4	141949572	0.015000	0.18098	0.017000	0.16124	0.450000	0.32258	0.007000	0.13174	0.640000	0.30582	0.179000	0.17066	AAG		0.403	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377539.1	NM_001009613	
SPANXN4	441525	broad.mit.edu	37	X	142121985	142121985	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:142121985G>T	ENST00000446864.1	+	2	350	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	SPANXN4_ENST00000370504.3_Missense_Mutation_p.D84Y	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	85								p.D85Y(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGAAAGGAGACCTAGACAT	0.398																																					p.D85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253T	X						.						45.0	44.0	45.0					X																	142121985		2029	4140	6169	141949651	SO:0001583	missense	441525	exon2			DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.253G>T	X.37:g.142121985G>T	ENSP00000405210:p.Asp85Tyr		141949651	NM_001009613	Q0ZNK6|Q5W0S6	Missense_Mutation	SNP	ENST00000446864.1	37	CCDS48178.1	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067591	0.20067	.	.	ENSG00000189326	ENST00000446864;ENST00000370504	T;T	0.09073	3.02;3.02	1.35	0.429	0.16506	.	.	.	.	.	T	0.17577	0.0422	.	.	.	0.09310	N	1	D	0.63880	0.993	P	0.62885	0.908	T	0.12528	-1.0544	8	0.87932	D	0	.	3.2352	0.06762	0.31:0.0:0.69:0.0	.	85	Q5MJ08	SPXN4_HUMAN	Y	85;84	ENSP00000405210:D85Y;ENSP00000359535:D84Y	ENSP00000359535:D84Y	D	+	1	0	SPANXN4	141949651	0.214000	0.23563	0.001000	0.08648	0.003000	0.03518	0.226000	0.17776	0.063000	0.16370	0.418000	0.28097	GAC		0.398	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377539.1	NM_001009613	
SPANXN3	139067	broad.mit.edu	37	X	142596917	142596917	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:142596917T>C	ENST00000370503.2	-	2	236	c.153A>G	c.(151-153)atA>atG	p.I51M	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	51								p.I51M(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACACAAATATTATTGGATATT	0.398																																					p.I51M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A153G	X						.						122.0	109.0	113.0					X																	142596917		2203	4300	6503	142424583	SO:0001583	missense	139067	exon2				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.153A>G	X.37:g.142596917T>C	ENSP00000359534:p.Ile51Met		142424583	NM_001009609	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	t	12.56	1.974292	0.34848	.	.	ENSG00000189252	ENST00000370503	T	0.07327	3.2	3.04	-2.5	0.06384	.	.	.	.	.	T	0.06826	0.0174	L	0.29908	0.895	0.09310	N	1	D	0.53151	0.958	P	0.48334	0.574	T	0.17837	-1.0356	9	0.87932	D	0	.	1.1165	0.01715	0.1908:0.1298:0.3852:0.2942	.	51	Q5MJ09	SPXN3_HUMAN	M	51	ENSP00000359534:I51M	ENSP00000359534:I51M	I	-	3	3	SPANXN3	142424583	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.637000	0.05459	-0.661000	0.05345	0.475000	0.43553	ATA		0.398	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
SLITRK4	139065	broad.mit.edu	37	X	142718688	142718688	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:142718688G>T	ENST00000381779.4	-	2	462	c.237C>A	c.(235-237)ttC>ttA	p.F79L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.F79L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.F79L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	79						integral component of membrane (GO:0016021)		p.F79L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAATTCAAGAATGTATTTG	0.373																																					p.F79L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C237A	X						.						45.0	47.0	46.0					X																	142718688		2201	4298	6499	142546354	SO:0001583	missense	139065	exon2			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.237C>A	X.37:g.142718688G>T	ENSP00000371198:p.Phe79Leu		142546354	NM_173078	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654079	0.47362	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.67698	-0.28;-0.28;-0.28	5.61	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.81239	2.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80271	-0.1452	10	0.62326	D	0.03	-12.3426	6.8091	0.23794	0.2074:0.0:0.7926:0.0	.	79	Q8IW52	SLIK4_HUMAN	L	79	ENSP00000371198:F79L;ENSP00000349400:F79L;ENSP00000336627:F79L	ENSP00000336627:F79L	F	-	3	2	SLITRK4	142546354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.471000	0.45127	2.345000	0.79718	0.600000	0.82982	TTC		0.373	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
IL3RA	3563	broad.mit.edu	37	X	1471018	1471018	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1471018G>T	ENST00000331035.4	+	5	673	c.324G>T	c.(322-324)gaG>gaT	p.E108D	IL3RA_ENST00000381469.2_Missense_Mutation_p.E30D	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	108					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.E108D(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGTGCGGAGAATCTGACCT	0.607																																					p.E108D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G324T	X						.						121.0	139.0	133.0					X																	1471018		2201	4294	6495	1431018	SO:0001583	missense	3563	exon5			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.324G>T	X.37:g.1471018G>T	ENSP00000327890:p.Glu108Asp		1431018	NM_002183	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	9.616	1.132680	0.21041	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	T;T;T	0.58060	0.36;0.36;0.36	1.88	-0.283	0.12874	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.604415	0.11433	U	0.564570	T	0.31918	0.0812	L	0.29908	0.895	0.09310	N	1	B;B	0.26445	0.072;0.149	B;B	0.25884	0.055;0.064	T	0.17410	-1.0370	10	0.23302	T	0.38	-12.4586	2.5259	0.04691	0.2301:0.3219:0.448:0.0	.	29;108	P26951-2;P26951	.;IL3RA_HUMAN	D	108;30;30	ENSP00000327890:E108D;ENSP00000414867:E30D;ENSP00000370878:E30D	ENSP00000327890:E108D	E	+	3	2	IL3RA	1431018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.288000	0.01150	0.044000	0.15775	0.365000	0.22127	GAG		0.607	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3		
UBE2NL	389898	broad.mit.edu	37	X	142967459	142967459	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:142967459G>T	ENST00000370494.1	+	1	287	c.257G>T	c.(256-258)aGa>aTa	p.R86I		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	86						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R86I(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTTGGAAAGAATAAGTTTA	0.403																																					p.R86I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G257T	X						.						83.0	77.0	79.0					X																	142967459		2203	4300	6503	142795125	SO:0001583	missense	389898	exon1					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.257G>T	X.37:g.142967459G>T	ENSP00000359525:p.Arg86Ile		142795125	NM_001012989	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	g	6.782	0.513231	0.12944	.	.	ENSG00000102069	ENST00000370494	T	0.39592	1.07	1.06	-1.02	0.10135	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.113720	0.31685	N	0.007227	T	0.69504	0.3118	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.63659	-0.6587	10	0.87932	D	0	-0.0347	3.2831	0.06922	0.1844:0.0:0.5664:0.2492	.	86	Q5JXB2	UE2NL_HUMAN	I	86	ENSP00000359525:R86I	ENSP00000359525:R86I	R	+	2	0	UBE2NL	142795125	1.000000	0.71417	0.907000	0.35723	0.000000	0.00434	4.953000	0.63624	-0.433000	0.07286	-3.074000	0.00066	AGA		0.403	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
SLITRK2	84631	broad.mit.edu	37	X	144904653	144904653	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:144904653T>G	ENST00000370490.1	+	1	4965	c.710T>G	c.(709-711)tTt>tGt	p.F237C	SLITRK2_ENST00000434188.2_Missense_Mutation_p.F237C|SLITRK2_ENST00000413937.2_Missense_Mutation_p.F237C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.F237C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.F237C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	237	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.F237C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATAACTGTTTTTGTGGGAGAG	0.483																																					p.F237C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T710G	X						.						109.0	102.0	105.0					X																	144904653		2203	4300	6503	144712345	SO:0001583	missense	84631	exon3			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.710T>G	X.37:g.144904653T>G	ENSP00000359521:p.Phe237Cys		144712345	NM_001144006	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924540	0.52653	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.0	5.0	0.66597	Cysteine-rich flanking region, C-terminal (1);	0.057956	0.64402	D	0.000001	T	0.50154	0.1599	L	0.45352	1.415	0.48632	D	0.999687	D	0.54397	0.966	P	0.52672	0.706	T	0.47736	-0.9094	10	0.40728	T	0.16	-8.7477	11.659	0.51334	0.0:0.0:0.0:1.0	.	237	Q9H156	SLIK2_HUMAN	C	237	ENSP00000334374:F237C;ENSP00000411681:F237C;ENSP00000359521:F237C;ENSP00000397015:F237C;ENSP00000407347:F237C;ENSP00000412010:F237C	ENSP00000334374:F237C	F	+	2	0	SLITRK2	144712345	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	6.170000	0.71920	1.653000	0.50694	0.486000	0.48141	TTT		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
FMR1	2332	broad.mit.edu	37	X	147010319	147010319	+	Missense_Mutation	SNP	G	G	A	rs200163413		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147010319G>A	ENST00000370475.4	+	5	541	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	FMR1_ENST00000370470.1_Missense_Mutation_p.R138Q|FMR1_ENST00000439526.2_Missense_Mutation_p.R138Q|FMR1_ENST00000370477.1_Missense_Mutation_p.R138Q|FMR1_ENST00000218200.8_Missense_Mutation_p.R138Q|FMR1_ENST00000334557.6_Missense_Mutation_p.R138Q|FMR1_ENST00000370471.3_Missense_Mutation_p.R138Q|FMR1_ENST00000440235.2_5'Flank	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	138			R -> Q (rare variant found in a developmentally delayed male; unknown pathological significance). {ECO:0000269|PubMed:20799337}.		central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R138Q(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACTTACGGCAAATGTAA	0.338									Fragile X syndrome																												p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	X						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3834		0,0,1632,570	86.0	78.0	81.0		413,413,413,413,413	5.2	1.0	X		81	1,6727		0,1,2427,1872	yes	missense,missense,missense,missense,missense	FMR1	NM_001185075.1,NM_001185076.1,NM_001185081.1,NM_001185082.1,NM_002024.5	43,43,43,43,43	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	138/538,138/612,138/517,138/587,138/633	147010319	1,10561	2202	4300	6502	146818011	SO:0001583	missense	2332	exon5	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.413G>A	X.37:g.147010319G>A	ENSP00000359506:p.Arg138Gln		146818011	NM_001185081	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219402	0.58560	0.0	1.49E-4	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.58210	1.09;0.35;1.13;1.1;1.41;1.12;1.13	5.25	5.25	0.73442	.	0.051505	0.64402	D	0.000001	T	0.43322	0.1242	L	0.40543	1.245	0.80722	D	1	B;P;P;P	0.48911	0.187;0.669;0.911;0.917	B;B;B;B	0.36989	0.029;0.153;0.238;0.168	T	0.45145	-0.9281	10	0.40728	T	0.16	-23.9308	16.9579	0.86264	0.0:0.0:1.0:0.0	.	138;138;138;138	Q8IXW7;Q06787;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.	Q	138	ENSP00000218200:R138Q;ENSP00000359502:R138Q;ENSP00000359508:R138Q;ENSP00000359506:R138Q;ENSP00000355115:R138Q;ENSP00000395923:R138Q;ENSP00000359501:R138Q	ENSP00000218200:R138Q	R	+	2	0	FMR1	146818011	1.000000	0.71417	0.951000	0.38953	0.834000	0.47266	7.790000	0.85794	2.299000	0.77371	0.538000	0.68166	CGG		0.338	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
FMR1	2332	broad.mit.edu	37	X	147018985	147018985	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147018985G>A	ENST00000370475.4	+	11	1119	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	FMR1_ENST00000370470.1_Splice_Site_p.E331K|FMR1_ENST00000439526.2_Splice_Site_p.E329K|FMR1_ENST00000370477.1_Splice_Site_p.E331K|FMR1_ENST00000218200.8_Splice_Site_p.E331K|FMR1_ENST00000370471.3_Splice_Site_p.E331K|FMR1_ENST00000440235.2_5'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	331					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E331K(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTACCAAGGAAATTATGCC	0.308									Fragile X syndrome																												p.E331K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G991A	X						.						63.0	64.0	64.0					X																	147018985		2199	4294	6493	146826677	SO:0001630	splice_region_variant	2332	exon11	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.991-1G>A	X.37:g.147018985G>A			146826677	NM_001185081	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800500	0.50315	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470	T;T;T;T;T;T	0.56941	1.25;0.43;1.25;1.22;1.26;1.25	5.26	5.26	0.73747	K Homology (1);K Homology, type 1 (1);	0.247227	0.34603	N	0.003837	T	0.60637	0.2284	L	0.38175	1.15	0.80722	D	1	B;B;P;D	0.56035	0.008;0.02;0.578;0.974	B;B;B;D	0.67725	0.047;0.035;0.146;0.953	T	0.57843	-0.7741	9	.	.	.	-35.8459	13.4146	0.60961	0.0:0.0:1.0:0.0	.	331;247;331;329	Q06787;Q59GC1;Q06787-8;G3V0J0	FMR1_HUMAN;.;.;.	K	331;331;331;331;329;331	ENSP00000218200:E331K;ENSP00000359502:E331K;ENSP00000359508:E331K;ENSP00000359506:E331K;ENSP00000395923:E329K;ENSP00000359501:E331K	.	E	+	1	0	FMR1	146826677	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.046000	0.64226	2.320000	0.78422	0.506000	0.49869	GAA		0.308	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	Missense_Mutation
FMR1	2332	broad.mit.edu	37	X	147026497	147026497	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147026497G>A	ENST00000370475.4	+	15	1708	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	FMR1_ENST00000370470.1_Missense_Mutation_p.R502H|FMR1_ENST00000439526.2_Missense_Mutation_p.R504H|FMR1_ENST00000370477.1_Missense_Mutation_p.R494H|FMR1_ENST00000218200.8_Missense_Mutation_p.R506H|FMR1_ENST00000370471.3_Missense_Mutation_p.A437T|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000440235.2_Missense_Mutation_p.R174H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	527	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R527H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCCTGCGCAGAGGAGAC	0.512									Fragile X syndrome																												p.A416T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246A	X						.						63.0	62.0	62.0					X																	147026497		2203	4300	6503	146834189	SO:0001583	missense	2332	exon13	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1580G>A	X.37:g.147026497G>A	ENSP00000359506:p.Arg527His		146834189	NM_001185081	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.713899|1.713899	0.30413|0.30413	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T|T;T;T;T;T;T	0.57436|0.35789	0.4|1.29;1.29;1.29;1.29;1.29;1.29	5.96|5.96	4.2|4.2	0.49525|0.49525	.|.	.|0.050584	.|0.85682	.|D	.|0.000000	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.34521|0.34521	1.04|1.04	0.43902|0.43902	D|D	0.996531|0.996531	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.997	.|D;D;D;D;P	.|0.91635	.|0.996;0.999;0.983;0.997;0.823	T|T	0.29058|0.29058	-1.0024|-1.0024	7|10	0.38643|0.44086	T|T	0.18|0.13	-36.4109|-36.4109	11.074|11.074	0.48021|0.48021	0.1521:0.0:0.8479:0.0|0.1521:0.0:0.8479:0.0	.|.	.|174;527;422;481;504	.|F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.|.;FMR1_HUMAN;.;.;.	T|H	437|506;494;527;504;502;174	ENSP00000359502:A437T|ENSP00000218200:R506H;ENSP00000359508:R494H;ENSP00000359506:R527H;ENSP00000395923:R504H;ENSP00000359501:R502H;ENSP00000413764:R174H	ENSP00000359502:A437T|ENSP00000218200:R506H	A|R	+|+	1|2	0|0	FMR1|FMR1	146834189|146834189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.082000|0.082000	0.17680|0.17680	5.543000|5.543000	0.67225|0.67225	0.651000|0.651000	0.30788|0.30788	-0.199000|-0.199000	0.12753|0.12753	GCA|CGC		0.512	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
FMR1	2332	broad.mit.edu	37	X	147026507	147026507	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147026507C>T	ENST00000370475.4	+	15	1718	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	FMR1_ENST00000370470.1_Silent_p.D505D|FMR1_ENST00000439526.2_Silent_p.D507D|FMR1_ENST00000370477.1_Silent_p.D497D|FMR1_ENST00000218200.8_Silent_p.D509D|FMR1_ENST00000370471.3_Missense_Mutation_p.T440M|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000440235.2_Silent_p.D177D	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	530	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D530D(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGACGGACGGCGGC	0.507									Fragile X syndrome																												p.T419M												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1256T	X						.						64.0	64.0	64.0					X																	147026507		2203	4300	6503	146834199	SO:0001819	synonymous_variant	2332	exon13	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1590C>T	X.37:g.147026507C>T			146834199	NM_001185081	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Silent	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346921	0.24426	.	.	ENSG00000102081	ENST00000370471	T	0.56444	0.46	5.7	-0.359	0.12571	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56232	-0.8013	6	0.87932	D	0	-34.8962	6.987	0.24733	0.0:0.4031:0.1171:0.4798	.	.	.	.	M	440	ENSP00000359502:T440M	ENSP00000359502:T440M	T	+	2	0	FMR1	146834199	0.995000	0.38212	0.724000	0.30704	0.193000	0.23685	0.313000	0.19415	-0.042000	0.13535	0.415000	0.27848	ACG		0.507	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
FMR1NB	158521	broad.mit.edu	37	X	147090223	147090223	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147090223C>A	ENST00000370467.3	+	4	698	c.624C>A	c.(622-624)ttC>ttA	p.F208L	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	208						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F208L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTCTTTTCTGGAGGAGGT	0.378																																					p.F208L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C624A	X						.						218.0	159.0	179.0					X																	147090223		2203	4300	6503	146897915	SO:0001583	missense	158521	exon4				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.624C>A	X.37:g.147090223C>A	ENSP00000359498:p.Phe208Leu		146897915	NM_152578	D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450792	0.26074	.	.	ENSG00000176988	ENST00000370467	T	0.28895	1.59	5.52	0.147	0.14838	.	0.782604	0.10897	N	0.622019	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.27872	-1.0061	10	0.31617	T	0.26	-2.3661	9.4007	0.38431	0.0:0.3144:0.5938:0.0918	.	208	Q8N0W7	FMR1N_HUMAN	L	208	ENSP00000359498:F208L	ENSP00000359498:F208L	F	+	3	2	FMR1NB	146897915	0.033000	0.19621	0.000000	0.03702	0.579000	0.36224	-0.100000	0.10990	-0.103000	0.12175	0.544000	0.68410	TTC		0.378	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578	
AFF2	2334	broad.mit.edu	37	X	147743545	147743545	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147743545G>T	ENST00000370460.2	+	3	776	c.297G>T	c.(295-297)aaG>aaT	p.K99N	AFF2_ENST00000342251.3_Missense_Mutation_p.K95N|AFF2_ENST00000370458.1_Missense_Mutation_p.K95N|AFF2_ENST00000370457.5_Missense_Mutation_p.K95N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	99					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.K99N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTCCAAAGAATTCTGTGC	0.398																																					p.K99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	X						.						139.0	142.0	141.0					X																	147743545		2203	4300	6503	147551237	SO:0001583	missense	2334	exon3			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.297G>T	X.37:g.147743545G>T	ENSP00000359489:p.Lys99Asn		147551237	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275785	0.59649	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.63	5.63	0.86233	.	0.050951	0.85682	D	0.000000	T	0.78685	0.4322	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D	0.89917	0.96;0.96;0.96;0.96;0.968;1.0	P;P;P;P;P;D	0.91635	0.643;0.643;0.643;0.643;0.757;0.999	T	0.80374	-0.1409	10	0.87932	D	0	.	18.7175	0.91680	0.0:0.0:1.0:0.0	.	99;95;95;95;99;95	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	N	99;95;95;95	ENSP00000359489:K99N;ENSP00000359486:K95N;ENSP00000345459:K95N;ENSP00000359487:K95N	ENSP00000345459:K95N	K	+	3	2	AFF2	147551237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.393000	0.59665	2.365000	0.80145	0.600000	0.82982	AAG		0.398	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
AFF2	2334	broad.mit.edu	37	X	147891438	147891438	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:147891438C>A	ENST00000370460.2	+	4	1559	c.1080C>A	c.(1078-1080)atC>atA	p.I360I	AFF2_ENST00000342251.3_Silent_p.I356I|AFF2_ENST00000286437.5_Silent_p.I30I|AFF2_ENST00000370458.1_Silent_p.I356I|AFF2_ENST00000370457.5_Silent_p.I356I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	360					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.I360I(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAGAAATCTTGCGGGTGA	0.333																																					p.I360I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080A	X						.						211.0	181.0	191.0					X																	147891438		2203	4300	6503	147699130	SO:0001819	synonymous_variant	2334	exon4			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1080C>A	X.37:g.147891438C>A			147699130	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.333	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MAGEA8	4107	broad.mit.edu	37	X	149013407	149013407	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:149013407C>T	ENST00000542674.1	+	3	882	c.361C>T	c.(361-363)Cgt>Tgt	p.R121C	MAGEA8_ENST00000535454.1_Missense_Mutation_p.R121C|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R121C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	121	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.		R -> H (in dbSNP:rs35744768).					p.R121C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTTAGTTCGTTTCCTGCT	0.493																																					p.R121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	X						.						92.0	91.0	91.0					X																	149013407		2203	4298	6501	148774065	SO:0001583	missense	4107	exon3				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.361C>T	X.37:g.149013407C>T	ENSP00000443776:p.Arg121Cys		148774065	NM_001166401	Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.552118	0.45487	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.07800	3.16;3.16;3.16	0.436	0.436	0.16549	.	1.662530	0.03524	N	0.221529	T	0.18215	0.0437	L	0.55990	1.75	0.09310	N	1	D	0.60575	0.988	P	0.55011	0.766	T	0.20538	-1.0272	9	0.87932	D	0	.	.	.	.	.	121	P43361	MAGA8_HUMAN	C	121	ENSP00000438293:R121C;ENSP00000443776:R121C;ENSP00000286482:R121C	ENSP00000286482:R121C	R	+	1	0	MAGEA8	148774065	0.000000	0.05858	0.011000	0.14972	0.510000	0.34073	-1.649000	0.01993	0.431000	0.26258	0.190000	0.17370	CGT		0.493	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364	
MAMLD1	10046	broad.mit.edu	37	X	149638106	149638106	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:149638106C>A	ENST00000370401.2	+	4	571	c.261C>A	c.(259-261)tgC>tgA	p.C87*	MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.C62*|MAMLD1_ENST00000432680.2_Nonsense_Mutation_p.C62*|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.C87*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	87					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C14*(1)|p.C87*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGCCTTGCCTTGAAGATG	0.498																																					p.C62X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C186A	X						.						104.0	103.0	103.0					X																	149638106		2203	4300	6503	149388764	SO:0001587	stop_gained	10046	exon2			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.261C>A	X.37:g.149638106C>A	ENSP00000359428:p.Cys87*		149388764	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Nonsense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824442	0.71143	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	.	.	.	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-22.7405	9.849	0.41046	0.0:0.8347:0.0:0.1653	.	.	.	.	X	49;87;62;87;87;62	.	ENSP00000262858:C87X	C	+	3	2	MAMLD1	149388764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.944000	0.29043	2.237000	0.73441	0.600000	0.82982	TGC		0.498	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MTMR1	8776	broad.mit.edu	37	X	149895775	149895775	+	Silent	SNP	C	C	T	rs372879184		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:149895775C>T	ENST00000370390.3	+	4	574	c.417C>T	c.(415-417)gtC>gtT	p.V139V	MTMR1_ENST00000445323.2_Silent_p.V147V|MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000542156.1_Silent_p.V139V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000541925.1_Silent_p.V45V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	139	GRAM.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.V139V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAAATGTCGAGAGGGTGA	0.358													c|||	2	0.000529801	0.0015	0.0	3775	,	,		12266	0.0		0.0	False		,,,				2504	0.0				p.V139V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	X						.	C		1,3834		0,1,1631,571	120.0	99.0	106.0		417	-8.8	0.0	X		106	0,6728		0,0,2428,1872	no	coding-synonymous	MTMR1	NM_003828.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		139/666	149895775	1,10562	2203	4300	6503	149646433	SO:0001819	synonymous_variant	8776	exon4			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.417C>T	X.37:g.149895775C>T			149646433	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	CCDS14695.1																																																																																				0.358	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
MAGEA4	4103	broad.mit.edu	37	X	151092276	151092276	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:151092276T>C	ENST00000360243.2	+	3	407	c.140T>C	c.(139-141)gTc>gCc	p.V47A	MAGEA4_ENST00000276344.2_Missense_Mutation_p.V47A|MAGEA4_ENST00000370337.4_Missense_Mutation_p.V47A|MAGEA4_ENST00000370335.1_Missense_Mutation_p.V47A|MAGEA4_ENST00000370340.3_Missense_Mutation_p.V47A|MAGEA4_ENST00000393920.1_Missense_Mutation_p.V47A|MAGEA4_ENST00000393921.1_Missense_Mutation_p.V47A	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	47								p.V47A(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCTGGTCCCTGGCACC	0.627																																					p.V47A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T140C	X						.						61.0	57.0	59.0					X																	151092276		2203	4300	6503	150842932	SO:0001583	missense	4103	exon3				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.140T>C	X.37:g.151092276T>C	ENSP00000353379:p.Val47Ala		150842932	NM_002362	Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992716	0.35131	.	.	ENSG00000147381	ENST00000431963;ENST00000276344;ENST00000448295;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000425182;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53;3.53	2.4	-0.994	0.10225	Melanoma associated antigen, MAGE, N-terminal (1);	3.846200	0.00848	N	0.001812	T	0.12347	0.0300	M	0.80982	2.52	0.09310	N	1	P	0.46512	0.879	B	0.43508	0.422	T	0.35895	-0.9770	10	0.30078	T	0.28	.	5.5502	0.17086	0.0:0.5516:0.0:0.4484	.	47	P43358	MAGA4_HUMAN	A	47	ENSP00000387777:V47A;ENSP00000276344:V47A;ENSP00000391904:V47A;ENSP00000377498:V47A;ENSP00000394149:V47A;ENSP00000359362:V47A;ENSP00000402624:V47A;ENSP00000377497:V47A;ENSP00000359365:V47A;ENSP00000394073:V47A;ENSP00000400900:V47A;ENSP00000402186:V47A;ENSP00000359360:V47A;ENSP00000353379:V47A;ENSP00000390096:V47A	ENSP00000276344:V47A	V	+	2	0	MAGEA4	150842932	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.556000	0.05992	-0.365000	0.08076	0.356000	0.21956	GTC		0.627	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362	
GABRE	2564	broad.mit.edu	37	X	151131056	151131056	+	Silent	SNP	G	G	A	rs200914254		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:151131056G>A	ENST00000370328.3	-	4	455	c.402C>T	c.(400-402)aaC>aaT	p.N134N	GABRE_ENST00000370325.1_Silent_p.N134N|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_De_novo_Start_InFrame	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	134					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.N21N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAAGGTGTCGTTGTAACAGA	0.483													G|||	2	0.000529801	0.0	0.0	3775	,	,		16784	0.001		0.001	False		,,,				2504	0.0				p.N134N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T	X						.						191.0	152.0	165.0					X																	151131056		2203	4300	6503	150881712	SO:0001819	synonymous_variant	2564	exon4			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.402C>T	X.37:g.151131056G>A			150881712	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	CCDS14703.1																																																																																				0.483	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
GABRA3	2556	broad.mit.edu	37	X	151532994	151532994	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:151532994G>T	ENST00000370314.4	-	2	287	c.49C>A	c.(49-51)Ctt>Att	p.L17I	GABRA3_ENST00000535043.1_Missense_Mutation_p.L17I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	17					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	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.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCAGGAAAAGAATCCCAAGG	0.453																																					p.L17I	NSCLC(142;2578 2613 10251 16743)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49A	X						.						160.0	139.0	146.0					X																	151532994		2203	4300	6503	151283650	SO:0001583	missense	2556	exon2				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.49C>A	X.37:g.151532994G>T	ENSP00000359337:p.Leu17Ile		151283650	NM_000808	Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657851	0.29425	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.72615	-0.67;-0.67;-0.67	5.29	5.29	0.74685	.	1.807920	0.02759	N	0.118416	T	0.77558	0.4148	N	0.19112	0.55	0.24883	N	0.992215	P	0.46578	0.88	P	0.62184	0.899	T	0.67845	-0.5565	10	0.72032	D	0.01	.	13.1956	0.59736	0.0:0.0:1.0:0.0	.	17	P34903	GBRA3_HUMAN	I	17	ENSP00000359337:L17I;ENSP00000359334:L17I;ENSP00000443527:L17I	ENSP00000359334:L17I	L	-	1	0	GABRA3	151283650	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.982000	0.49337	2.175000	0.68902	0.600000	0.82982	CTT		0.453	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	
MAGEA6	4105	broad.mit.edu	37	X	151869683	151869683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:151869683C>T	ENST00000329342.5	+	3	598	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	125	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R125*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAGTATCGAGCCAGGGA	0.527																																					p.R125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C373T	X						.						130.0	121.0	124.0					X																	151869683		2202	4300	6502	151620339	SO:0001587	stop_gained	4105	exon3				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.373C>T	X.37:g.151869683C>T	ENSP00000329199:p.Arg125*		151620339	NM_005363	A8IF93|Q6NW44	Nonsense_Mutation	SNP	ENST00000329342.5	37	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.817397	0.50633	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	.	.	.	0.605	-0.583	0.11706	.	0.363429	0.27294	N	0.020029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	125	.	ENSP00000329199:R125X	R	+	1	2	MAGEA6	151620339	0.017000	0.18338	0.026000	0.17262	0.207000	0.24258	-0.551000	0.06027	-0.314000	0.08716	0.181000	0.17075	CGA		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363	
NSDHL	50814	broad.mit.edu	37	X	152031184	152031184	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:152031184C>T	ENST00000370274.3	+	5	653	c.459C>T	c.(457-459)gtC>gtT	p.V153V	NSDHL_ENST00000440023.1_Silent_p.V153V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	153					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.V153V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGCGTCGATATCAAGA	0.408																																					p.V153V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	X						.						164.0	142.0	149.0					X																	152031184		2203	4300	6503	151781840	SO:0001819	synonymous_variant	50814	exon6			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.459C>T	X.37:g.152031184C>T			151781840	NM_001129765	D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	CCDS14717.1																																																																																				0.408	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922	
ASB11	140456	broad.mit.edu	37	X	15333668	15333668	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:15333668C>T	ENST00000480796.1	-	1	110	c.60G>A	c.(58-60)acG>acA	p.T20T	ASB11_ENST00000380470.3_Silent_p.T20T|ASB11_ENST00000537676.1_5'Flank|ASB11_ENST00000344384.4_5'Flank			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	20					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.T20T(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGAAAAAAAACGTAGCAAACA	0.333													G|||	2	0.000529801	0.0008	0.0	3775	,	,		13491	0.0		0.0	False		,,,				2504	0.001				p.T20T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G60A	X						.						77.0	77.0	77.0					X																	15333668		2202	4297	6499	15243589	SO:0001819	synonymous_variant	140456	exon1			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.60G>A	X.37:g.15333668C>T			15243589	NM_080873	E9PEN1|Q3SYC4|Q7Z667	Silent	SNP	ENST00000480796.1	37	CCDS14164.1																																																																																				0.333	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		
NSDHL	50814	broad.mit.edu	37	X	152034497	152034497	+	Silent	SNP	C	C	T	rs147293409	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:152034497C>T	ENST00000370274.3	+	6	872	c.678C>T	c.(676-678)ttC>ttT	p.F226F	NSDHL_ENST00000440023.1_Silent_p.F226F	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	226					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.F226F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAAGTTCGTGATTGGGT	0.572																																					p.F226F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678T	X						.		,	6,3829		0,6,1626,571	97.0	86.0	90.0		678,678	-5.9	0.0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	NSDHL	NM_001129765.1,NM_015922.2	,	0,6,4054,2443	TT,TC,CC,C		0.0,0.1565,0.0568	,	226/374,226/374	152034497	6,10557	2203	4300	6503	151785153	SO:0001819	synonymous_variant	50814	exon7			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.678C>T	X.37:g.152034497C>T			151785153	NM_001129765	D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	CCDS14717.1																																																																																				0.572	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922	
ATP2B3	492	broad.mit.edu	37	X	152825354	152825354	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:152825354C>T	ENST00000349466.2	+	17	3119	c.2793C>T	c.(2791-2793)ggC>ggT	p.G931G	ATP2B3_ENST00000359149.3_Silent_p.G931G|ATP2B3_ENST00000263519.4_Silent_p.G931G|ATP2B3_ENST00000370186.1_Silent_p.G917G|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.G917G|ATP2B3_ENST00000393842.1_Silent_p.G917G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	931					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G931G(2)|p.G917G(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATTCTGGGCCACGCCGTGT	0.642																																					p.G931G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2793T	X						.						105.0	77.0	86.0					X																	152825354		2203	4300	6503	152478548	SO:0001819	synonymous_variant	492	exon16			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2793C>T	X.37:g.152825354C>T			152478548	NM_021949	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	CCDS35440.1																																																																																				0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
FIGF	2277	broad.mit.edu	37	X	15376224	15376224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:15376224G>T	ENST00000297904.3	-	3	822	c.393C>A	c.(391-393)ttC>ttA	p.F131L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	131					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.F131L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GGGGCTTGAAGAATGTGTTGG	0.498																																					p.F131L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C393A	X						.						274.0	219.0	238.0					X																	15376224		2203	4300	6503	15286145	SO:0001583	missense	2277	exon3			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.393C>A	X.37:g.15376224G>T	ENSP00000297904:p.Phe131Leu		15286145	NM_004469	B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909213	0.72868	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	4.24	0.50183	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.43646	1.37	0.46437	D	0.999044	D	0.76494	0.999	D	0.83275	0.996	T	0.63825	-0.6549	9	0.48119	T	0.1	-37.2445	8.2732	0.31857	0.261:0.0:0.739:0.0	.	131	O43915	VEGFD_HUMAN	L	131	.	ENSP00000297904:F131L	F	-	3	2	FIGF	15286145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.090000	0.50191	1.057000	0.40506	0.529000	0.55759	TTC		0.498	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
SLC6A8	6535	broad.mit.edu	37	X	152959632	152959632	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:152959632G>A	ENST00000253122.5	+	9	1778	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	SLC6A8_ENST00000430077.2_Silent_p.P319P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	434				P -> R (in Ref. 9; AAH81558). {ECO:0000305}.	cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P434P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACCTCCTCCCGGCCTCCTACT	0.612																																					p.P434P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1302A	X						.						66.0	64.0	65.0					X																	152959632		2203	4300	6503	152612826	SO:0001819	synonymous_variant	6535	exon9				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1302G>A	X.37:g.152959632G>A			152612826	NM_005629	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	g	8.837	0.941415	0.18281	.	.	ENSG00000130821	ENST00000442457	.	.	.	5.25	3.37	0.38596	.	.	.	.	.	T	0.46600	0.1401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38265	-0.9669	4	.	.	.	.	3.1875	0.06606	0.2851:0.0:0.5236:0.1913	.	.	.	.	Q	119	.	.	R	+	2	0	SLC6A8	152612826	0.119000	0.22226	1.000000	0.80357	0.997000	0.91878	-0.000000	0.12993	1.003000	0.39130	0.529000	0.55759	CGG		0.612	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		
OPN1LW	5956	broad.mit.edu	37	X	153421916	153421916	+	Missense_Mutation	SNP	G	G	A	rs1065440		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:153421916G>A	ENST00000369951.4	+	5	952	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	298			A -> P (in dbSNP:rs1065440).		phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.A298T(1)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTGGTTACGCCTTCCACCC	0.542																																					p.A298T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G892A	X						.						378.0	335.0	350.0					X																	153421916		2196	4272	6468	153075110	SO:0001583	missense	5956	exon5			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.892G>A	X.37:g.153421916G>A	ENSP00000358967:p.Ala298Thr		153075110	NM_020061		Missense_Mutation	SNP	ENST00000369951.4	37	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132483	0.77662	.	.	ENSG00000102076	ENST00000369951	T	0.72167	-0.63	4.57	0.2	0.15181	GPCR, rhodopsin-like superfamily (1);	0.295627	0.36778	N	0.002418	T	0.57770	0.2076	L	0.46614	1.455	0.35163	D	0.770884	P	0.36587	0.559	B	0.33690	0.168	T	0.60890	-0.7173	10	0.52906	T	0.07	.	9.1823	0.37149	0.0:0.122:0.3792:0.4988	.	298	P04000	OPSR_HUMAN	T	298	ENSP00000358967:A298T	ENSP00000358967:A298T	A	+	1	0	OPN1LW	153075110	0.000000	0.05858	0.954000	0.39281	0.661000	0.39034	-0.274000	0.08537	-0.006000	0.14370	-0.401000	0.06369	GCC		0.542	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061	
TKTL1	8277	broad.mit.edu	37	X	153537783	153537783	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:153537783C>T	ENST00000369915.3	+	3	528	c.339C>T	c.(337-339)ttC>ttT	p.F113F	TKTL1_ENST00000369912.2_Silent_p.F57F|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	113					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.F113F(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAAGTACTTCGACAGGGCCA	0.537																																					p.F107F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	X						.						252.0	213.0	226.0					X																	153537783		2203	4300	6503	153190977	SO:0001819	synonymous_variant	8277	exon3			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.339C>T	X.37:g.153537783C>T			153190977	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	4.122	0.020848	0.08006	.	.	ENSG00000007350	ENST00000426203	.	.	.	4.64	-1.03	0.10102	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2143	4.8078	0.13328	0.0:0.2949:0.1505:0.5547	.	.	.	.	X	96	.	.	R	+	1	2	TKTL1	153190977	0.998000	0.40836	0.927000	0.36925	0.416000	0.31233	0.367000	0.20382	-0.364000	0.08088	-0.380000	0.06706	CGA		0.537	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
SLC10A3	8273	broad.mit.edu	37	X	153716926	153716926	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:153716926C>A	ENST00000393587.4	-	3	617	c.354G>T	c.(352-354)aaG>aaT	p.K118N	SLC10A3_ENST00000369649.4_Missense_Mutation_p.K118N|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.K173N|SLC10A3_ENST00000263512.4_Missense_Mutation_p.K118N|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	118					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.K118N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACTCACGTTCTTGATGGTCA	0.637																																					p.K118N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G354T	X						.						88.0	75.0	80.0					X																	153716926		2203	4300	6503	153370120	SO:0001583	missense	8273	exon2			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.354G>T	X.37:g.153716926C>A	ENSP00000377212:p.Lys118Asn		153370120	NM_019848	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798944	0.31777	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.09817	2.94;2.99;3.04;3.04	5.23	4.35	0.52113	.	0.403926	0.24217	U	0.040478	T	0.14830	0.0358	M	0.70595	2.14	0.30685	N	0.751915	P;P	0.35656	0.454;0.514	B;B	0.37650	0.198;0.255	T	0.05099	-1.0906	10	0.17832	T	0.49	-16.5243	12.3521	0.55155	0.0:0.9132:0.0:0.0868	.	118;118	Q9BSL2;P09131	.;P3_HUMAN	N	118;173;118;118;118	ENSP00000358663:K118N;ENSP00000377211:K173N;ENSP00000263512:K118N;ENSP00000377212:K118N	ENSP00000263512:K118N	K	-	3	2	SLC10A3	153370120	0.786000	0.28738	0.992000	0.48379	0.968000	0.65278	0.478000	0.22212	0.963000	0.38082	0.529000	0.55759	AAG		0.637	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848	
G6PD	2539	broad.mit.edu	37	X	153760920	153760920	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:153760920C>A	ENST00000393564.2	-	10	1261	c.1149G>T	c.(1147-1149)caG>caT	p.Q383H	G6PD_ENST00000369620.2_Missense_Mutation_p.Q429H|G6PD_ENST00000393562.2_Missense_Mutation_p.Q413H|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	383					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.Q383H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTGCACTGCTGGTGGAAGA	0.622																																					p.Q413H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1239T	X						.						59.0	49.0	52.0					X																	153760920		2203	4300	6503	153414114	SO:0001583	missense	2539	exon10			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1149G>T	X.37:g.153760920C>A	ENSP00000377194:p.Gln383His		153414114	NM_000402	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780985	0.31502	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99820	-6.93;-6.93;-6.93	5.82	2.97	0.34412	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.552015	0.20125	N	0.098718	D	0.98664	0.9552	L	0.37630	1.12	0.22771	N	0.99876	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.99958	1.1662	10	0.54805	T	0.06	.	3.7683	0.08632	0.1382:0.3994:0.367:0.0954	.	383;413	P11413;P11413-3	G6PD_HUMAN;.	H	413;383;383;429	ENSP00000377192:Q413H;ENSP00000377194:Q383H;ENSP00000358633:Q429H	ENSP00000291567:Q383H	Q	-	3	2	G6PD	153414114	0.000000	0.05858	1.000000	0.80357	0.927000	0.56198	-0.707000	0.05041	0.582000	0.29556	0.597000	0.82753	CAG		0.622	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402	
MPP1	4354	broad.mit.edu	37	X	154009980	154009980	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154009980G>A	ENST00000369534.3	-	10	1191	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	MPP1_ENST00000413259.3_Silent_p.F318F|MPP1_ENST00000462825.1_5'Flank|MPP1_ENST00000393531.1_Silent_p.F328F	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	348	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.F348F(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAACTCCAAGAACTCATTGG	0.478																																					p.F348F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044T	X						.						339.0	245.0	277.0					X																	154009980		2203	4300	6503	153663174	SO:0001819	synonymous_variant	4354	exon10				CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1044C>T	X.37:g.154009980G>A			153663174	NM_002436	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	CCDS14762.1																																																																																				0.478	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436	
F8	2157	broad.mit.edu	37	X	154088801	154088801	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154088801G>T	ENST00000360256.4	-	25	7006	c.6806C>A	c.(6805-6807)tCt>tAt	p.S2269Y	F8_ENST00000330287.6_Missense_Mutation_p.S134Y	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2269	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S2269Y(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTAAGCAGAGATTTTACTCC	0.443																																					p.S2269Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C6806A	X						.						162.0	140.0	147.0					X																	154088801		2203	4300	6503	153741995	SO:0001583	missense	2157	exon25			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6806C>A	X.37:g.154088801G>T	ENSP00000353393:p.Ser2269Tyr		153741995	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.354918	0.61293	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.98419	-4.92;-4.92	5.33	3.55	0.40652	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.242538	0.43110	D	0.000607	D	0.98343	0.9450	M	0.70275	2.135	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.98214	1.0474	10	0.66056	D	0.02	-13.5887	8.3699	0.32408	0.1958:0.0:0.8042:0.0	.	2269;134	P00451;Q14286	FA8_HUMAN;.	Y	134;2269	ENSP00000327895:S134Y;ENSP00000353393:S2269Y	ENSP00000327895:S134Y	S	-	2	0	F8	153741995	0.269000	0.24143	1.000000	0.80357	0.977000	0.68977	2.762000	0.47597	1.032000	0.39892	0.544000	0.68410	TCT		0.443	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154157349	154157349	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154157349G>A	ENST00000360256.4	-	14	4916	c.4716C>T	c.(4714-4716)agC>agT	p.S1572S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1572	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S1572S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTTGCAGAGCTTTCTGTTG	0.468																																					p.S1572S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4716T	X						.						153.0	151.0	152.0					X																	154157349		2203	4300	6503	153810543	SO:0001819	synonymous_variant	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4716C>T	X.37:g.154157349G>A			153810543	NM_000132	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154159392	154159392	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154159392C>A	ENST00000360256.4	-	14	2873	c.2673G>T	c.(2671-2673)aaG>aaT	p.K891N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	891	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.K891N(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATCAAGTTTCTTCAACTCTG	0.403																																					p.K891N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2673T	X						.						54.0	49.0	50.0					X																	154159392		2203	4300	6503	153812586	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2673G>T	X.37:g.154159392C>A	ENSP00000353393:p.Lys891Asn		153812586	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.469939	0.01044	.	.	ENSG00000185010	ENST00000360256	D	0.99382	-5.8	4.81	-4.37	0.03633	.	0.544852	0.17943	N	0.156777	D	0.95497	0.8537	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	D	0.90008	0.4119	10	0.36615	T	0.2	-0.1397	2.5007	0.04632	0.4229:0.3195:0.1037:0.1539	.	891	P00451	FA8_HUMAN	N	891	ENSP00000353393:K891N	ENSP00000353393:K891N	K	-	3	2	F8	153812586	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.997000	0.03705	-1.410000	0.02035	-1.195000	0.01675	AAG		0.403	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
TMLHE	55217	broad.mit.edu	37	X	154743711	154743711	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154743711C>T	ENST00000334398.3	-	4	719	c.574G>A	c.(574-576)Gta>Ata	p.V192I	TMLHE_ENST00000369439.4_Missense_Mutation_p.V192I|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	192					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.V192I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACATTTTCTACGAATGCAATT	0.418																																					p.V192I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	X						.						129.0	116.0	121.0					X																	154743711		2203	4300	6503	154396905	SO:0001583	missense	55217	exon4			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.574G>A	X.37:g.154743711C>T	ENSP00000335261:p.Val192Ile		154396905	NM_001184797	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088053	0.76642	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.81821	-1.54;-1.54	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.80939	0.4720	L	0.37561	1.115	0.80722	D	1	D;D;D	0.64830	0.992;0.994;0.992	P;P;P	0.59643	0.779;0.861;0.636	T	0.77544	-0.2548	10	0.23302	T	0.38	-9.7994	13.0094	0.58724	0.0:1.0:0.0:0.0	.	192;192;192	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	I	192	ENSP00000335261:V192I;ENSP00000358447:V192I	ENSP00000335261:V192I	V	-	1	0	TMLHE	154396905	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.130000	0.64745	1.709000	0.51313	0.513000	0.50165	GTA		0.418	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196	
P2RY8	286530	broad.mit.edu	37	X	1584787	1584787	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1584787C>T	ENST00000381297.4	-	2	875	c.665G>A	c.(664-666)cGc>cAc	p.R222H	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R222H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCCGTGCGCAACAGCTT	0.637			T	CRLF2	"""B-ALL, Downs associated ALL"""																																p.R222H			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	X						.						67.0	41.0	50.0					X																	1584787		2203	4293	6496	1544787	SO:0001583	missense	286530	exon2			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.665G>A	X.37:g.1584787C>T	ENSP00000370697:p.Arg222His		1544787	NM_178129		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	5.192	0.220911	0.09863	.	.	ENSG00000182162	ENST00000381297	T	0.43688	0.94	2.41	0.46	0.16684	GPCR, rhodopsin-like superfamily (1);	0.805999	0.10272	U	0.694670	T	0.27866	0.0686	L	0.48642	1.525	0.09310	N	1	P	0.48350	0.909	B	0.34138	0.176	T	0.14615	-1.0466	10	0.48119	T	0.1	.	5.6054	0.17377	0.0:0.2906:0.0:0.7094	.	222	Q86VZ1	P2RY8_HUMAN	H	222	ENSP00000370697:R222H	ENSP00000370697:R222H	R	-	2	0	P2RY8	1544787	0.993000	0.37304	0.001000	0.08648	0.063000	0.16089	1.026000	0.30103	-0.003000	0.14444	0.279000	0.19357	CGC		0.637	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
TMLHE	55217	broad.mit.edu	37	X	154774795	154774795	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:154774795G>T	ENST00000334398.3	-	2	288	c.143C>A	c.(142-144)tCt>tAt	p.S48Y	TMLHE_ENST00000369439.4_Missense_Mutation_p.S48Y|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	48					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.S48Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACAAGTCAGAGACTTGGAGGC	0.438																																					p.S48Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C143A	X						.						105.0	91.0	96.0					X																	154774795		2202	4292	6494	154427989	SO:0001583	missense	55217	exon2			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.143C>A	X.37:g.154774795G>T	ENSP00000335261:p.Ser48Tyr		154427989	NM_001184797	A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.036878	0.00040	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;T	0.83837	-1.77;-1.24	3.92	2.12	0.27331	Domain of unknown function, DUF971 (1);	0.555420	0.18767	N	0.131709	T	0.75606	0.3872	L	0.60455	1.87	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.64774	-0.6328	10	0.49607	T	0.09	-0.94	4.3818	0.11297	0.1226:0.0:0.6566:0.2208	.	48;48;48	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	Y	48	ENSP00000335261:S48Y;ENSP00000358447:S48Y	ENSP00000335261:S48Y	S	-	2	0	TMLHE	154427989	0.935000	0.31712	0.059000	0.19551	0.004000	0.04260	0.816000	0.27267	0.299000	0.22661	-0.315000	0.08773	TCT		0.438	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196	
AKAP17A	8227	broad.mit.edu	37	X	1712547	1712547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:1712547C>A	ENST00000313871.3	+	2	388	c.192C>A	c.(190-192)ttC>ttA	p.F64L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.F64L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	64					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.F64L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						ACCACCAGTTCTCCACGCTGC	0.592																																					p.F64L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C192A	X						.						189.0	168.0	175.0					X																	1712547		2203	4296	6499	1672547	SO:0001583	missense	8227	exon2			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.192C>A	X.37:g.1712547C>A	ENSP00000324827:p.Phe64Leu		1672547	NM_005088	Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	10.01	1.234090	0.22626	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.34072	1.38;1.38	2.02	-0.481	0.12082	.	0.000000	0.64402	U	0.000002	T	0.49423	0.1556	.	.	.	0.09310	N	1	D;B	0.76494	0.999;0.267	D;B	0.83275	0.996;0.327	T	0.35201	-0.9798	9	0.87932	D	0	-16.8625	4.2662	0.10764	0.0:0.4496:0.1883:0.3621	.	64;64	Q02040-3;Q02040	.;AK17A_HUMAN	L	64	ENSP00000324827:F64L;ENSP00000370660:F64L	ENSP00000324827:F64L	F	+	3	2	AKAP17A	1672547	0.995000	0.38212	0.001000	0.08648	0.573000	0.36030	0.114000	0.15520	-0.095000	0.12351	0.100000	0.15512	TTC		0.592	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088	
DHRSX	207063	broad.mit.edu	37	X	2139178	2139178	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:2139178C>A	ENST00000334651.5	-	7	949	c.897G>T	c.(895-897)gaG>gaT	p.E299D		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	299							oxidoreductase activity (GO:0016491)	p.E299D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGACTTGGTCTCTTTCTCGT	0.537																																					p.E299D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G897T	X						.						305.0	263.0	277.0					X																	2139178		2203	4296	6499	2149178	SO:0001583	missense	207063	exon7			AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.897G>T	X.37:g.2139178C>A	ENSP00000334113:p.Glu299Asp		2149178	NM_145177	Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	c	0.089	-1.169929	0.01660	.	.	ENSG00000169084	ENST00000334651	T	0.66995	-0.24	2.32	-2.95	0.05564	NAD(P)-binding domain (1);	0.350692	0.25250	U	0.032023	T	0.61236	0.2331	M	0.91818	3.245	0.09310	N	1	B	0.31026	0.304	B	0.25614	0.062	T	0.54490	-0.8286	10	0.13853	T	0.58	.	6.9197	0.24380	0.0:0.3985:0.4787:0.1229	.	299	Q8N5I4	DHRSX_HUMAN	D	299	ENSP00000334113:E299D	ENSP00000334113:E299D	E	-	3	2	DHRSX	2149178	0.996000	0.38824	0.222000	0.23844	0.407000	0.30961	0.560000	0.23500	-0.436000	0.07254	0.124000	0.15798	GAG		0.537	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177	
ZBED1	9189	broad.mit.edu	37	X	2407653	2407653	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:2407653C>T	ENST00000381223.4	-	2	1311	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	ZBED1_ENST00000381222.2_Missense_Mutation_p.V370I|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.V370I|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	370					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.V370I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGCGATGACGAACTGCTGC	0.657																																					p.V370I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108A	X						.						58.0	46.0	50.0					X																	2407653		2203	4296	6499	2417653	SO:0001583	missense	9189	exon2			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1108G>A	X.37:g.2407653C>T	ENSP00000370621:p.Val370Ile		2417653	NM_004729	Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	1.947	-0.442059	0.04604	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	1.82	0.25136	Ribonuclease H-like (1);	0.936228	0.08714	N	0.904469	T	0.13841	0.0335	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24190	-1.0167	9	0.32370	T	0.25	-26.5599	7.9711	0.30127	0.0:0.736:0.0:0.264	.	370	O96006	ZBED1_HUMAN	I	370	ENSP00000370621:V370I;ENSP00000370620:V370I;ENSP00000370616:V370I	ENSP00000370616:V370I	V	-	1	0	ZBED1	2417653	0.155000	0.22806	0.053000	0.19242	0.016000	0.09150	1.924000	0.40065	1.155000	0.42497	0.519000	0.50382	GTC		0.657	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729	
CD99	4267	broad.mit.edu	37	X	2644308	2644308	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:2644308C>T	ENST00000381192.3	+	8	551	c.369C>T	c.(367-369)gcC>gcT	p.A123A	CD99_ENST00000381187.3_Silent_p.A107A|CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Silent_p.A123A	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	123					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.A123A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CAGCCGACGCCCCAGGCGTGA	0.587																																					p.A123A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369T	X						.						75.0	76.0	76.0					X																	2644308		2203	4296	6499	2654308	SO:0001819	synonymous_variant	4267	exon8			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.369C>T	X.37:g.2644308C>T			2654308	NM_002414	A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	CCDS14119.1																																																																																				0.587	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898	
ARSF	416	broad.mit.edu	37	X	3019148	3019148	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:3019148G>A	ENST00000381127.1	+	8	1209	c.988G>A	c.(988-990)Gat>Aat	p.D330N	ARSF_ENST00000537104.1_Missense_Mutation_p.D330N|ARSF_ENST00000359361.2_Missense_Mutation_p.D330N	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	330					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.D330N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATGCTATCGATGATTTTGG	0.413																																					p.D330N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G988A	X						.						134.0	110.0	118.0					X																	3019148		2203	4299	6502	3029148	SO:0001583	missense	416	exon8			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.988G>A	X.37:g.3019148G>A	ENSP00000370519:p.Asp330Asn		3029148	NM_004042	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263090	0.59431	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94537	-3.45;-3.45;-3.45	2.81	2.81	0.32909	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.121890	0.52532	U	0.000068	D	0.93284	0.7860	M	0.77820	2.39	0.46874	D	0.999238	P	0.34724	0.465	B	0.34301	0.179	D	0.93227	0.6614	10	0.59425	D	0.04	.	13.1568	0.59522	0.0:0.0:1.0:0.0	.	330	P54793	ARSF_HUMAN	N	330	ENSP00000370519:D330N;ENSP00000445594:D330N;ENSP00000352319:D330N	ENSP00000352319:D330N	D	+	1	0	ARSF	3029148	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	6.964000	0.76061	1.300000	0.44818	0.534000	0.68092	GAT		0.413	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
MXRA5	25878	broad.mit.edu	37	X	3229372	3229372	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:3229372G>A	ENST00000217939.6	-	7	7026	c.6872C>T	c.(6871-6873)tCg>tTg	p.S2291L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2291	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.S2291L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGTCATCCGACTGCATGAA	0.577																																					p.S2291L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6872T	X						.						109.0	86.0	94.0					X																	3229372		2203	4300	6503	3239372	SO:0001583	missense	25878	exon7			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6872C>T	X.37:g.3229372G>A	ENSP00000217939:p.Ser2291Leu		3239372	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589036	0.28357	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.27557	1.66	4.28	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.511109	0.14573	U	0.311316	T	0.37265	0.0997	L	0.39147	1.195	0.09310	N	0.999999	D	0.60160	0.987	P	0.52823	0.71	T	0.16424	-1.0403	10	0.51188	T	0.08	.	13.2913	0.60272	0.0:0.1564:0.8436:0.0	.	2291	Q9NR99	MXRA5_HUMAN	L	2291	ENSP00000217939:S2291L	ENSP00000217939:S2291L	S	-	2	0	MXRA5	3239372	1.000000	0.71417	0.004000	0.12327	0.022000	0.10575	4.728000	0.62000	0.605000	0.29947	0.509000	0.49947	TCG		0.577	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3238514	3238514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:3238514G>T	ENST00000217939.6	-	5	5366	c.5212C>A	c.(5212-5214)Ctt>Att	p.L1738I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1738						extracellular vesicular exosome (GO:0070062)		p.L1738I(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAAAAGAAAGAGTCTTGTTG	0.468																																					p.L1738I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5212A	X						.						61.0	57.0	59.0					X																	3238514		2203	4300	6503	3248514	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5212C>A	X.37:g.3238514G>T	ENSP00000217939:p.Leu1738Ile		3248514	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	4.060	0.008964	0.07912	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.18	-0.779	0.10973	.	1.197160	0.06569	U	0.748265	T	0.34716	0.0907	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.16719	-1.0393	10	0.41790	T	0.15	.	0.2971	0.00267	0.2976:0.1299:0.2404:0.332	.	1738	Q9NR99	MXRA5_HUMAN	I	1738	ENSP00000217939:L1738I	ENSP00000217939:L1738I	L	-	1	0	MXRA5	3248514	0.000000	0.05858	0.005000	0.12908	0.538000	0.34931	-0.505000	0.06367	-0.248000	0.09583	0.287000	0.19450	CTT		0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3239636	3239636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:3239636C>A	ENST00000217939.6	-	5	4244	c.4090G>T	c.(4090-4092)Gaa>Taa	p.E1364*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1364						extracellular vesicular exosome (GO:0070062)		p.E1364*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTTAAATTCTCCCATAGTG	0.468																																					p.E1364X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4090T	X						.						54.0	51.0	52.0					X																	3239636		2203	4300	6503	3249636	SO:0001587	stop_gained	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4090G>T	X.37:g.3239636C>A	ENSP00000217939:p.Glu1364*		3249636	NM_015419	Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	40	8.377664	0.98784	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	2.92	2.92	0.33932	.	0.179456	0.26311	U	0.025113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.5267	0.27660	0.0:0.8608:0.0:0.1392	.	.	.	.	X	1364	.	ENSP00000217939:E1364X	E	-	1	0	MXRA5	3249636	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.183000	0.16919	1.227000	0.43598	0.436000	0.28706	GAA		0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3248147	3248147	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:3248147C>T	ENST00000217939.6	-	4	775	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	207						extracellular vesicular exosome (GO:0070062)		p.P207P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCAGAAGCGGCATGTTCC	0.453																																					p.P207P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G621A	X						.						68.0	59.0	62.0					X																	3248147		2202	4300	6502	3258147	SO:0001819	synonymous_variant	25878	exon4			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.621G>A	X.37:g.3248147C>T			3258147	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NLGN4X	57502	broad.mit.edu	37	X	5821228	5821228	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:5821228G>A	ENST00000381095.3	-	5	2118	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	NLGN4X_ENST00000381093.2_Silent_p.F517F|NLGN4X_ENST00000275857.6_Silent_p.F497F|NLGN4X_ENST00000381092.1_Silent_p.F497F|NLGN4X_ENST00000538097.1_Silent_p.F497F	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	497					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.F497F(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGATGCCGAAGACATAGG	0.547																																					p.F497F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1491T	X						.						96.0	80.0	85.0					X																	5821228		2203	4300	6503	5831228	SO:0001819	synonymous_variant	57502	exon5			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1491C>T	X.37:g.5821228G>A			5831228	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.547	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
HDHD1	8226	broad.mit.edu	37	X	7023671	7023671	+	Silent	SNP	C	C	T	rs200144671		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:7023671C>T	ENST00000381077.5	-	2	346	c.270G>A	c.(268-270)gcG>gcA	p.A90A	HDHD1_ENST00000424830.2_Silent_p.A113A|HDHD1_ENST00000540122.1_Silent_p.A90A|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	90					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)	p.A76A(1)		breast(2)|large_intestine(1)|lung(3)	6						CTGGCATGAGCGCAGCCGTGG	0.483													c|||	1	0.000264901	0.0	0.0	3775	,	,		12654	0.001		0.0	False		,,,				2504	0.0				p.A90A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G270A	X						.						52.0	55.0	54.0					X																	7023671		2003	4165	6168	7033671	SO:0001819	synonymous_variant	8226	exon2			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.270G>A	X.37:g.7023671C>T			7033671	NM_001178135	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	ENST00000381077.5	37	CCDS48075.1																																																																																				0.483	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080	
VCX	26609	broad.mit.edu	37	X	7811750	7811750	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:7811750G>T	ENST00000381059.3	+	3	533	c.314G>T	c.(313-315)aGt>aTt	p.S105I	VCX_ENST00000341408.4_Missense_Mutation_p.S105I	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	105	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S105I(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GACCCCCTGAGTCAGGAGGCC	0.677																																					p.S105I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314T	X						.						72.0	91.0	84.0					X																	7811750		2128	4069	6197	7771750	SO:0001583	missense	26609	exon3			AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.314G>T	X.37:g.7811750G>T	ENSP00000370447:p.Ser105Ile		7771750	NM_013452	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	5.630	0.300866	0.10678	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.29397	1.57;1.57	.	.	.	.	.	.	.	.	T	0.23054	0.0557	L	0.52573	1.65	0.09310	N	1	B	0.31174	0.311	B	0.23150	0.044	T	0.17837	-1.0356	8	0.66056	D	0.02	.	5.9618	0.19303	6.0E-4:0.0:0.9994:0.0	.	105	Q9H320	VCX1_HUMAN	I	105	ENSP00000370447:S105I;ENSP00000344144:S105I	ENSP00000344144:S105I	S	+	2	0	VCX	7771750	0.008000	0.16893	0.024000	0.17045	0.024000	0.10985	-0.099000	0.11007	0.161000	0.19458	0.164000	0.16699	AGT		0.677	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452	
FAM9B	171483	broad.mit.edu	37	X	8997356	8997356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:8997356C>A	ENST00000327220.5	-	6	749	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FAM9B_ENST00000428477.1_Nonsense_Mutation_p.E129*|FAM9B_ENST00000362066.3_Nonsense_Mutation_p.E169*			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	129						nucleus (GO:0005634)		p.E129*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ACAATTAGttcttcctcttct	0.383																																					p.E129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G385T	X						.						279.0	199.0	226.0					X																	8997356		2201	4300	6501	8957356	SO:0001587	stop_gained	171483	exon5				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.385G>T	X.37:g.8997356C>A	ENSP00000318716:p.Glu129*		8957356	NM_205849	Q0IJ68|Q8N7Z8	Nonsense_Mutation	SNP	ENST00000327220.5	37	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208151	0.39003	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	-0.548	0.11833	.	.	.	.	.	.	.	.	.	.	.	0.52501	A	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	169;129;129	.	ENSP00000318716:E129X	E	-	1	0	FAM9B	8957356	0.126000	0.22350	0.049000	0.19019	0.046000	0.14306	-0.336000	0.07863	-0.426000	0.07360	-0.422000	0.05995	GAA		0.383	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849	
ACE2	59272	broad.mit.edu	37	X	15596329	15596329	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:15596329T>G	ENST00000252519.3	-	9	1282	c.1180A>C	c.(1180-1182)Aat>Cat	p.N394H	ACE2_ENST00000427411.1_Missense_Mutation_p.N394H			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	394					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.N394H(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TTAGCTCCATTTCTTAGCAGA	0.448																																					p.N394H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1180C	X						.						118.0	98.0	105.0					X																	15596329		2203	4300	6503	15506250	SO:0001583	missense	59272	exon10			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1180A>C	X.37:g.15596329T>G	ENSP00000252519:p.Asn394His		15506250	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532809	0.45073	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.35605	1.3;1.3	5.55	4.39	0.52855	.	0.258412	0.44483	D	0.000442	T	0.60958	0.2309	M	0.92923	3.36	0.27720	N	0.94517	D	0.63880	0.993	P	0.61070	0.883	T	0.61252	-0.7100	10	0.62326	D	0.03	-15.6043	7.2343	0.26062	0.0:0.2443:0.0:0.7557	.	394	Q9BYF1	ACE2_HUMAN	H	394	ENSP00000252519:N394H;ENSP00000389326:N394H	ENSP00000252519:N394H	N	-	1	0	ACE2	15506250	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.392000	0.34486	0.746000	0.32786	0.441000	0.28932	AAT		0.448	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
ACE2	59272	broad.mit.edu	37	X	15609836	15609836	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:15609836G>A	ENST00000252519.3	-	4	685	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	ACE2_ENST00000427411.1_Splice_Site_p.H195Y			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	195					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.H195Y(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GCAAACTTACGATTTGCTCTT	0.498																																					p.H195Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C583T	X						.						236.0	221.0	226.0					X																	15609836		2203	4300	6503	15519757	SO:0001630	splice_region_variant	59272	exon5			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.583+1C>T	X.37:g.15609836G>A			15519757	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071565	0.20147	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32988	1.43;1.43	5.84	0.868	0.19090	.	0.563891	0.20129	N	0.098638	T	0.18841	0.0452	L	0.36672	1.1	0.21527	N	0.999653	P	0.36465	0.554	B	0.32624	0.149	T	0.11941	-1.0567	9	.	.	.	-1.3945	7.5979	0.28058	0.0:0.4556:0.1322:0.4123	.	195	Q9BYF1	ACE2_HUMAN	Y	195	ENSP00000252519:H195Y;ENSP00000389326:H195Y	.	H	-	1	0	ACE2	15519757	0.885000	0.30320	0.012000	0.15200	0.393000	0.30537	0.246000	0.18160	-0.124000	0.11724	-1.105000	0.02106	CAT		0.498	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		Missense_Mutation
ACE2	59272	broad.mit.edu	37	X	15609913	15609913	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:15609913C>A	ENST00000252519.3	-	4	608	c.506G>T	c.(505-507)aGa>aTa	p.R169I	ACE2_ENST00000427411.1_Missense_Mutation_p.R169I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	169					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.R169I(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GACCTCAGATCTCCAGCTTTC	0.428																																					p.R169I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506T	X						.						217.0	208.0	211.0					X																	15609913		2203	4300	6503	15519834	SO:0001583	missense	59272	exon5			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.506G>T	X.37:g.15609913C>A	ENSP00000252519:p.Arg169Ile		15519834	NM_021804	C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039273	0.75617	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.38077	1.16;1.16	6.14	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	H	0.97051	3.93	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.82534	-0.0409	10	0.87932	D	0	-23.0782	14.4186	0.67168	0.0:0.9283:0.0:0.0717	.	169	Q9BYF1	ACE2_HUMAN	I	169	ENSP00000252519:R169I;ENSP00000389326:R169I	ENSP00000252519:R169I	R	-	2	0	ACE2	15519834	1.000000	0.71417	0.841000	0.33234	0.590000	0.36582	6.918000	0.75788	1.345000	0.45676	0.596000	0.82720	AGA		0.428	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1		
TXLNG	55787	broad.mit.edu	37	X	16857989	16857989	+	Missense_Mutation	SNP	C	C	T	rs200810818		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:16857989C>T	ENST00000380122.5	+	9	1259	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	TXLNG_ENST00000398155.4_Missense_Mutation_p.R268C|TXLNG_ENST00000485153.1_3'UTR	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	400					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)	p.R400C(1)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						AATAATTTGGCGTACCAAATG	0.373																																					p.R400C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198T	X						.						109.0	101.0	103.0					X																	16857989		2203	4300	6503	16767910	SO:0001583	missense	55787	exon9			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1198C>T	X.37:g.16857989C>T	ENSP00000369465:p.Arg400Cys		16767910	NM_018360	Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740245	0.69304	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.34072	1.38;1.38	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.54743	0.1877	M	0.78637	2.42	0.80722	D	1	D;D	0.62365	0.988;0.991	P;P	0.51777	0.55;0.679	T	0.61676	-0.7014	10	0.87932	D	0	-0.1479	18.8131	0.92065	0.0:1.0:0.0:0.0	.	268;400	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	C	400;268	ENSP00000369465:R400C;ENSP00000381222:R268C	ENSP00000369465:R400C	R	+	1	0	TXLNG	16767910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.955000	0.63638	2.390000	0.81377	0.538000	0.68166	CGT		0.373	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360	
RBBP7	5931	broad.mit.edu	37	X	16870700	16870700	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:16870700C>T	ENST00000380087.2	-	8	1297	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E304K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E357K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	313					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.E313K(2)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTATGAGATTCGAAGGTATGG	0.343																																					p.E357K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1069A	X						.						63.0	59.0	60.0					X																	16870700		2203	4300	6503	16780621	SO:0001583	missense	5931	exon8			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.937G>A	X.37:g.16870700C>T	ENSP00000369427:p.Glu313Lys		16780621	NM_001198719	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354446	0.82243	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;0.24	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.31845	0.965	0.80722	D	1	B;B;B	0.21452	0.056;0.035;0.028	B;B;B	0.21708	0.014;0.036;0.014	T	0.54437	-0.8294	10	0.72032	D	0.01	1.2052	17.6398	0.88132	0.0:1.0:0.0:0.0	.	304;313;357	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	313;357;304;117	ENSP00000369427:E313K;ENSP00000369424:E357K;ENSP00000386068:E304K;ENSP00000402796:E117K	ENSP00000369424:E357K	E	-	1	0	RBBP7	16780621	1.000000	0.71417	0.655000	0.29622	0.980000	0.70556	7.772000	0.85439	2.469000	0.83416	0.594000	0.82650	GAA		0.343	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
SCML2	10389	broad.mit.edu	37	X	18264796	18264796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:18264796G>A	ENST00000251900.4	-	13	1882	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*	SCML2_ENST00000398048.3_Nonsense_Mutation_p.R311*	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	575					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R575*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GGCACACTTCGAGAAAAATCC	0.418																																					p.R575X	Esophageal Squamous(100;1252 1965 19021 35517)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1723T	X						.						101.0	95.0	97.0					X																	18264796		2203	4300	6503	18174717	SO:0001587	stop_gained	10389	exon13			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1723C>T	X.37:g.18264796G>A	ENSP00000251900:p.Arg575*		18174717	NM_006089	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Nonsense_Mutation	SNP	ENST00000251900.4	37	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894599	0.52121	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	.	.	.	5.72	-1.01	0.10169	.	4.120150	0.00166	N	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.5626	0.39378	0.1423:0.5378:0.3198:0.0	.	.	.	.	X	575;311;543	.	ENSP00000251900:R575X	R	-	1	2	SCML2	18174717	0.915000	0.31059	0.000000	0.03702	0.004000	0.04260	1.904000	0.39868	-0.764000	0.04651	-0.229000	0.12294	CGA		0.418	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089	
CDKL5	6792	broad.mit.edu	37	X	18622822	18622822	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:18622822C>A	ENST00000379989.3	+	13	2063	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S593Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	593					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.S593Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATCTTTTTCTTATGGACTG	0.498																																					p.S593Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778A	X						.						166.0	162.0	163.0					X																	18622822		2203	4300	6503	18532743	SO:0001583	missense	6792	exon12			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1778C>A	X.37:g.18622822C>A	ENSP00000369325:p.Ser593Tyr		18532743	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423428	0.43020	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71461	-0.57;-0.57	6.03	5.17	0.71159	.	0.353179	0.37437	N	0.002086	T	0.58764	0.2145	L	0.27053	0.805	0.26348	N	0.977256	P	0.45902	0.868	B	0.39068	0.289	T	0.57900	-0.7731	10	0.87932	D	0	-3.9713	14.3609	0.66771	0.0:0.9277:0.0:0.0723	.	593	O76039	CDKL5_HUMAN	Y	593	ENSP00000369332:S593Y;ENSP00000369325:S593Y	ENSP00000369325:S593Y	S	+	2	0	CDKL5	18532743	1.000000	0.71417	0.369000	0.25952	0.678000	0.39670	4.537000	0.60643	1.298000	0.44778	0.600000	0.82982	TCT		0.498	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
RS1	6247	broad.mit.edu	37	X	18660161	18660161	+	Missense_Mutation	SNP	C	C	T	rs281865364		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:18660161C>T	ENST00000379984.3	-	6	678	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	213	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		R -> Q (in XLRS1). {ECO:0000269|PubMed:17615541}.|R -> W (in XLRS1).		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R213Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAGCTCCATCCGGATGGCAAT	0.682																																					p.R213Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	X	GRCh37	CM981773	RS1	M		.						54.0	50.0	51.0					X																	18660161		2203	4300	6503	18570082	SO:0001583	missense	6247	exon6			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.638G>A	X.37:g.18660161C>T	ENSP00000369320:p.Arg213Gln		18570082	NM_000330	Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	36	5.907797	0.97093	.	.	ENSG00000102104	ENST00000379984	D	0.98666	-5.06	5.63	5.63	0.86233	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98137	1.0434	10	0.87932	D	0	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	213	O15537	XLRS1_HUMAN	Q	213	ENSP00000369320:R213Q	ENSP00000369320:R213Q	R	-	2	0	RS1	18570082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.353000	0.79882	0.594000	0.82650	CGG		0.682	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1		
PPEF1	5475	broad.mit.edu	37	X	18779678	18779678	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:18779678T>A	ENST00000361511.4	+	9	1036	c.542T>A	c.(541-543)tTt>tAt	p.F181Y	PPEF1_ENST00000359763.6_Missense_Mutation_p.F128Y|PPEF1_ENST00000349874.5_Missense_Mutation_p.F181Y|PPEF1_ENST00000543630.1_Missense_Mutation_p.F181Y|PPEF1_ENST00000544635.1_Missense_Mutation_p.F116Y	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	181	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.F181Y(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GATGATCTTTTTTTGATCTTC	0.338																																					p.F181Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T542A	X						.						148.0	133.0	138.0					X																	18779678		2203	4300	6503	18689599	SO:0001583	missense	5475	exon9			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.542T>A	X.37:g.18779678T>A	ENSP00000354871:p.Phe181Tyr		18689599	NM_152226	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810642	0.50421	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630;ENST00000472826;ENST00000544635	T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45	5.47	4.29	0.51040	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.626077	0.15941	N	0.237186	T	0.14614	0.0353	M	0.63843	1.955	0.09310	N	1	D;P;P	0.56746	0.977;0.927;0.933	P;P;P	0.54174	0.709;0.744;0.623	T	0.08432	-1.0722	10	0.87932	D	0	-3.0753	8.5938	0.33703	0.0:0.0:0.192:0.808	.	181;181;181	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	Y	181;128;181;181;91;116	ENSP00000354871:F181Y;ENSP00000352806:F128Y;ENSP00000341892:F181Y;ENSP00000437785:F181Y;ENSP00000419948:F91Y;ENSP00000441289:F116Y	ENSP00000341892:F181Y	F	+	2	0	PPEF1	18689599	1.000000	0.71417	0.015000	0.15790	0.555000	0.35460	5.958000	0.70330	0.698000	0.31739	-0.369000	0.07265	TTT		0.338	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
PHKA2	5256	broad.mit.edu	37	X	18911622	18911622	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:18911622G>A	ENST00000379942.4	-	33	4354	c.3689C>T	c.(3688-3690)tCg>tTg	p.S1230L	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1230					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.S1230L(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CTGGCAGCCCGAATTGGGCAA	0.512																																					p.S1230L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3689T	X						.						157.0	142.0	147.0					X																	18911622		2203	4300	6503	18821543	SO:0001583	missense	5256	exon33				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3689C>T	X.37:g.18911622G>A	ENSP00000369274:p.Ser1230Leu		18821543	NM_000292	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189101	0.78789	.	.	ENSG00000044446	ENST00000379942	D	0.95853	-3.83	5.91	5.91	0.95273	.	0.249082	0.39274	N	0.001413	D	0.93746	0.8001	L	0.46741	1.465	0.49213	D	0.999769	B	0.27316	0.175	B	0.26416	0.069	D	0.91110	0.4921	10	0.49607	T	0.09	-8.7187	19.2757	0.94030	0.0:0.0:1.0:0.0	.	1230	P46019	KPB2_HUMAN	L	1230	ENSP00000369274:S1230L	ENSP00000369274:S1230L	S	-	2	0	PHKA2	18821543	0.998000	0.40836	0.951000	0.38953	0.936000	0.57629	4.971000	0.63749	2.504000	0.84457	0.600000	0.82982	TCG		0.512	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292	
GPR64	10149	broad.mit.edu	37	X	19028798	19028798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:19028798C>A	ENST00000379869.3	-	17	1361	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	GPR64_ENST00000379873.2_Nonsense_Mutation_p.E400*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.E378*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.E384*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.E386*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.E370*|GPR64_ENST00000379876.1_Nonsense_Mutation_p.E376*|GPR64_ENST00000379878.3_Nonsense_Mutation_p.E384*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.E397*|GPR64_ENST00000357544.3_Nonsense_Mutation_p.E370*	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	400					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.E397*(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGATCATTTCTCCTGCGAGG	0.522																																					p.E370X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1108T	X						.						208.0	156.0	174.0					X																	19028798		2203	4300	6503	18938719	SO:0001587	stop_gained	10149	exon15			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1198G>T	X.37:g.19028798C>A	ENSP00000369198:p.Glu400*		18938719	NM_001184837	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Nonsense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632985	0.96682	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	.	.	.	6.08	2.3	0.28687	.	0.691331	0.13712	N	0.368028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.1643	0.01812	0.2667:0.289:0.2796:0.1647	.	.	.	.	X	400;384;384;376;370;400;378;397;386;370	.	ENSP00000344972:E370X	E	-	1	0	GPR64	18938719	0.011000	0.17503	0.274000	0.24659	0.980000	0.70556	-0.133000	0.10451	0.260000	0.21731	0.600000	0.82982	GAA		0.522	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
PDHA1	5160	broad.mit.edu	37	X	19368189	19368189	+	Missense_Mutation	SNP	G	G	T	rs144828838	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:19368189G>T	ENST00000422285.2	+	3	357	c.252G>T	c.(250-252)caG>caT	p.Q84H	PDHA1_ENST00000379805.3_Missense_Mutation_p.Q84H|PDHA1_ENST00000545074.1_Missense_Mutation_p.Q84H|PDHA1_ENST00000379806.5_Missense_Mutation_p.Q122H|PDHA1_ENST00000540249.1_Missense_Mutation_p.Q84H			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	84					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.Q84H(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGTATAAACAGAAAATTATTC	0.443																																					p.Q122H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G366T	X						.						274.0	223.0	240.0					X																	19368189		2203	4300	6503	19278110	SO:0001583	missense	5160	exon4				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.252G>T	X.37:g.19368189G>T	ENSP00000394382:p.Gln84His		19278110	NM_001173454	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003776	0.74932	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	D;D;D;D;D;D;D;D	0.99277	-4.41;-4.41;-4.41;-4.41;-5.67;-4.41;-4.41;-4.41	5.17	4.29	0.51040	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	M	0.87547	2.89	0.58432	D	0.999998	P;D;D;D;D	0.64830	0.804;0.994;0.977;0.983;0.977	B;D;D;P;D	0.65140	0.413;0.932;0.929;0.887;0.929	D	0.98802	1.0740	10	0.62326	D	0.03	-20.6353	10.3178	0.43747	0.1616:0.0:0.8384:0.0	.	84;84;84;122;84	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	H	122;84;84;122;112;84;84;112;84	ENSP00000369134:Q122H;ENSP00000438550:Q84H;ENSP00000440761:Q84H;ENSP00000406473:Q122H;ENSP00000404616:Q112H;ENSP00000394382:Q84H;ENSP00000348062:Q84H;ENSP00000369133:Q84H	ENSP00000348062:Q84H	Q	+	3	2	PDHA1	19278110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.291000	0.65667	2.283000	0.76528	0.600000	0.82982	CAG		0.443	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
MAP3K15	389840	broad.mit.edu	37	X	19475126	19475126	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:19475126C>T	ENST00000338883.4	-	6	899	c.900G>A	c.(898-900)gcG>gcA	p.A300A	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.A132A|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	300							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A347A(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTTCACCATCGCATCATAGT	0.453																																					p.A300A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	X						.						114.0	85.0	94.0					X																	19475126		1568	3582	5150	19385047	SO:0001819	synonymous_variant	389840	exon6			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.900G>A	X.37:g.19475126C>T			19385047	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	5'UTR	SNP	ENST00000338883.4	37																																																																																					0.453	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
MAP3K15	389840	broad.mit.edu	37	X	19478223	19478223	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:19478223C>A	ENST00000338883.4	-	5	767	c.768G>T	c.(766-768)gaG>gaT	p.E256D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E88D|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	256							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.E303D(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTTGGTATTTCTCTCTGGCTT	0.438																																					p.E256D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G768T	X						.						104.0	85.0	91.0					X																	19478223		1568	3582	5150	19388144	SO:0001583	missense	389840	exon5			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.768G>T	X.37:g.19478223C>A	ENSP00000345629:p.Glu256Asp		19388144	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	5'UTR	SNP	ENST00000338883.4	37		.	.	.	.	.	.	.	.	.	.	c	9.789	1.177477	0.21787	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.10763	2.84;2.84	4.97	0.904	0.19302	.	0.288428	0.37483	N	0.002075	T	0.04770	0.0129	N	0.14661	0.345	0.42055	D	0.991131	.	.	.	.	.	.	T	0.42464	-0.9450	8	0.15066	T	0.55	.	1.6265	0.02724	0.1347:0.373:0.2599:0.2324	.	.	.	.	D	256;88	ENSP00000345629:E256D;ENSP00000428356:E88D	ENSP00000345629:E256D	E	-	3	2	MAP3K15	19388144	0.630000	0.27155	0.927000	0.36925	0.990000	0.78478	-0.147000	0.10234	0.450000	0.26774	0.519000	0.50382	GAG		0.438	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
SH3KBP1	30011	broad.mit.edu	37	X	19725017	19725017	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:19725017G>T	ENST00000397821.3	-	4	662	c.372C>A	c.(370-372)atC>atA	p.I124I	SH3KBP1_ENST00000379698.4_Silent_p.I87I|SH3KBP1_ENST00000379697.3_Silent_p.I124I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	124	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I124I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACCTCTATGATGTCGCCAA	0.582																																					p.I87I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C261A	X						.						88.0	72.0	77.0					X																	19725017		2203	4300	6503	19634938	SO:0001819	synonymous_variant	30011	exon3			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.372C>A	X.37:g.19725017G>T			19634938	NM_001024666	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.582	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
MAP7D2	256714	broad.mit.edu	37	X	20031204	20031204	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:20031204T>C	ENST00000379651.3	-	13	1748	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	MAP7D2_ENST00000452324.3_Missense_Mutation_p.K525R|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K618R|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K462R|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K532R	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	577					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.K577R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTTTGTCTTCTTTTCCACACA	0.458																																					p.K618R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1853G	X						.						261.0	237.0	245.0					X																	20031204		2203	4300	6503	19941125	SO:0001583	missense	256714	exon14			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1730A>G	X.37:g.20031204T>C	ENSP00000368972:p.Lys577Arg		19941125	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.549023	0.27652	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.23754	2.21;3.54;3.54;1.89;2.21	4.67	3.47	0.39725	.	0.212145	0.40908	D	0.000995	T	0.12518	0.0304	N	0.14661	0.345	0.22728	N	0.998804	B;B;B;B;B	0.31879	0.233;0.344;0.344;0.233;0.228	B;B;B;B;B	0.31191	0.059;0.125;0.125;0.059;0.125	T	0.25328	-1.0135	10	0.17832	T	0.49	-12.0492	7.7637	0.28968	0.0:0.0981:0.0:0.9019	.	532;525;618;577;462	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	R	577;618;462;532;260;525	ENSP00000368972:K577R;ENSP00000368964:K618R;ENSP00000440691:K462R;ENSP00000388239:K532R;ENSP00000413301:K525R	ENSP00000368964:K618R	K	-	2	0	MAP7D2	19941125	0.989000	0.36119	0.966000	0.40874	0.434000	0.31775	1.104000	0.31074	0.707000	0.31934	0.427000	0.28365	AAG		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MAP7D2	256714	broad.mit.edu	37	X	20034397	20034397	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:20034397G>A	ENST00000379651.3	-	10	1354	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R394C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R487C|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R331C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R401C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	446					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R446C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcttctaggcgaagcctttcc	0.468																																					p.R487C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1459T	X						.						68.0	63.0	65.0					X																	20034397		2203	4300	6503	19944318	SO:0001583	missense	256714	exon11			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1336C>T	X.37:g.20034397G>A	ENSP00000368972:p.Arg446Cys		19944318	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716266	0.30413	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.19	3.37	0.38596	.	0.685242	0.14464	N	0.318001	T	0.35799	0.0944	M	0.86502	2.82	0.21652	N	0.99961	B;B;B;B;B	0.24675	0.109;0.012;0.089;0.109;0.022	B;B;B;B;B	0.16289	0.015;0.006;0.009;0.015;0.005	T	0.42632	-0.9440	10	0.87932	D	0	1.1329	5.5388	0.17026	0.1026:0.0:0.7017:0.1957	.	401;394;487;446;331	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	C	446;487;331;401;129;394	ENSP00000368972:R446C;ENSP00000368964:R487C;ENSP00000440691:R331C;ENSP00000388239:R401C;ENSP00000413301:R394C	ENSP00000368964:R487C	R	-	1	0	MAP7D2	19944318	0.977000	0.34250	0.027000	0.17364	0.733000	0.41908	2.150000	0.42254	0.646000	0.30693	0.540000	0.68198	CGC		0.468	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
MAP7D2	256714	broad.mit.edu	37	X	20062574	20062574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:20062574G>A	ENST00000379651.3	-	6	682	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.R170*|MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.R263*|MAP7D2_ENST00000543767.1_Nonsense_Mutation_p.R107*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.R177*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	222					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R222*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCAATGTTTCGAGTGGGTGAA	0.463																																					p.R263X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C787T	X						.						208.0	185.0	193.0					X																	20062574		2203	4300	6503	19972495	SO:0001587	stop_gained	256714	exon7			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.664C>T	X.37:g.20062574G>A	ENSP00000368972:p.Arg222*		19972495	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Nonsense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408777	0.62399	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	.	.	.	5.1	2.18	0.27775	.	0.097082	0.44902	D	0.000407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3162	8.4092	0.32634	0.0749:0.0:0.6521:0.273	.	.	.	.	X	222;263;107;177;170	.	ENSP00000368964:R263X	R	-	1	2	MAP7D2	19972495	1.000000	0.71417	0.136000	0.22124	0.051000	0.14879	1.764000	0.38471	0.368000	0.24481	-0.191000	0.12829	CGA		0.463	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
RPS6KA3	6197	broad.mit.edu	37	X	20185793	20185793	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:20185793G>T	ENST00000379565.3	-	17	1723	c.1516C>A	c.(1516-1518)Ctt>Att	p.L506I	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.L478I|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.L476I|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.L477I|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	506	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L506I(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TTTTGTCTAAGAATTTTATCC	0.338																																					p.L506I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1516A	X						.						164.0	172.0	169.0					X																	20185793		2203	4300	6503	20095714	SO:0001583	missense	6197	exon17			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1516C>A	X.37:g.20185793G>T	ENSP00000368884:p.Leu506Ile		20095714	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408583	0.83340	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	N	0.05467	-0.045	0.80722	D	1	B;B;D;P	0.67145	0.28;0.237;0.996;0.664	P;B;D;P	0.97110	0.538;0.35;1.0;0.635	T	0.66590	-0.5885	10	0.28530	T	0.3	.	18.9908	0.92791	0.0:0.0:1.0:0.0	.	477;476;478;506	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	I	506;478;476;477	ENSP00000368884:L506I;ENSP00000440220:L478I;ENSP00000368865:L476I;ENSP00000444837:L477I	ENSP00000368865:L476I	L	-	1	0	RPS6KA3	20095714	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.028000	0.88798	2.434000	0.82447	0.513000	0.50165	CTT		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
ZNF645	158506	broad.mit.edu	37	X	22291957	22291957	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:22291957G>A	ENST00000323684.1	+	1	893	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	283	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A283A(3)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGCATTATGCGCCACCTCCAT	0.473																																					p.A283A												.	.	3	Substitution - coding silent(3)	large_intestine(2)|urinary_tract(1)	c.G849A	X						.						150.0	116.0	127.0					X																	22291957		2203	4300	6503	22201878	SO:0001819	synonymous_variant	158506	exon1			AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.849G>A	X.37:g.22291957G>A			22201878	NM_152577	A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	CCDS14205.1																																																																																				0.473	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577	
CXorf58	254158	broad.mit.edu	37	X	23953382	23953382	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:23953382C>T	ENST00000379211.3	+	7	1174	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	209								p.L209F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CAAATTAAATCTTGAAAATAT	0.388																																					p.L209F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C625T	X						.						96.0	97.0	97.0					X																	23953382		2203	4300	6503	23863303	SO:0001583	missense	254158	exon7			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.625C>T	X.37:g.23953382C>T	ENSP00000368511:p.Leu209Phe		23863303	NM_152761		Missense_Mutation	SNP	ENST00000379211.3	37	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.112707	0.37242	.	.	ENSG00000165182	ENST00000379211	T	0.47528	0.84	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000022	T	0.66479	0.2793	M	0.71581	2.175	0.24646	N	0.993546	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63143	-0.6703	10	0.87932	D	0	-10.0909	11.9281	0.52831	0.0:0.9154:0.0:0.0846	.	209;209	B7ZLS7;Q96LI9	.;CX058_HUMAN	F	209	ENSP00000368511:L209F	ENSP00000368511:L209F	L	+	1	0	CXorf58	23863303	0.968000	0.33430	0.097000	0.21041	0.031000	0.12232	3.097000	0.50251	2.496000	0.84212	0.417000	0.27973	CTT		0.388	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
SUPT20HL1	100130302	broad.mit.edu	37	X	24382267	24382267	+	IGR	SNP	C	C	T	rs374628239		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:24382267C>T								AC004552.1 (15244 upstream) : PDK3 (101070 downstream)														p.R571C(1)									TCCACCTCCCCGCACCCAACT	0.532																																					p.R464C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1390T	X						.	C	CYS/ARG	0,2625		0,0,0,1059,507	70.0	50.0	56.0		1390	-7.0	0.0	X		56	1,5496		0,0,1,1916,1664	no	missense	FAM48B1	NM_001136234.1	180	0,0,1,2975,2171	TT,TC,T,CC,C		0.0182,0.0,0.0123	possibly-damaging	464/888	24382267	1,8121	1566	3581	5147	24292188	SO:0001628	intergenic_variant	0	exon1																															X.37:g.24382267C>T			24292188	NM_001136234		IGR	SNP		37																																																																																				0	0.532								
PDK3	5165	broad.mit.edu	37	X	24546235	24546235	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:24546235C>T	ENST00000379162.4	+	9	1130	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	PDK3_ENST00000441463.2_Missense_Mutation_p.R299C	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	299	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.R299C(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAAATAGATCGTCTTTTTAA	0.423																																					p.R299C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C895T	X						.						147.0	121.0	130.0					X																	24546235		2203	4300	6503	24456156	SO:0001583	missense	5165	exon9			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.895C>T	X.37:g.24546235C>T	ENSP00000368460:p.Arg299Cys		24456156	NM_001142386	B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133463	0.56828	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.79653	-1.29;-1.29	4.97	4.97	0.65823	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.86289	0.5897	H	0.96489	3.83	0.80722	D	1	P;P	0.43826	0.818;0.553	B;B	0.39660	0.306;0.206	D	0.90126	0.4203	10	0.72032	D	0.01	.	13.2895	0.60262	0.1686:0.8314:0.0:0.0	.	299;299	B4DXG6;Q15120	.;PDK3_HUMAN	C	299	ENSP00000368460:R299C;ENSP00000387536:R299C	ENSP00000368460:R299C	R	+	1	0	PDK3	24456156	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.247000	0.58750	2.305000	0.77605	0.513000	0.50165	CGT		0.423	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391	
DCAF8L1	139425	broad.mit.edu	37	X	27999204	27999204	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:27999204C>T	ENST00000441525.1	-	1	362	c.248G>A	c.(247-249)aGc>aAc	p.S83N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	83	Glu-rich.							p.S83N(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCACCCATGCTTTCAAGTTC	0.483																																					p.S83N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	X						.						183.0	137.0	152.0					X																	27999204		2202	4300	6502	27909125	SO:0001583	missense	139425	exon1				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.248G>A	X.37:g.27999204C>T	ENSP00000405222:p.Ser83Asn		27909125	NM_001017930	B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	7.268	0.606493	0.14002	.	.	ENSG00000226372	ENST00000441525	T	0.67523	-0.27	0.842	-0.498	0.12019	.	0.352689	0.30118	N	0.010366	T	0.53417	0.1795	L	0.49350	1.555	0.21950	N	0.999452	B	0.19200	0.034	B	0.19391	0.025	T	0.43669	-0.9377	10	0.44086	T	0.13	-1.565	6.2033	0.20587	0.0:0.6862:0.3138:0.0	.	83	A6NGE4	DC8L1_HUMAN	N	83	ENSP00000405222:S83N	ENSP00000405222:S83N	S	-	2	0	DCAF8L1	27909125	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	2.664000	0.46783	-0.208000	0.10171	0.284000	0.19432	AGC		0.483	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690	
IL1RAPL1	11141	broad.mit.edu	37	X	29935661	29935661	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:29935661G>A	ENST00000378993.1	+	7	1532	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E287K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	287	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E287K(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GATGAAAGGAGAAAAATTTAT	0.368																																					p.E287K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G859A	X						.						61.0	59.0	60.0					X																	29935661		2202	4300	6502	29845582	SO:0001583	missense	11141	exon7			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.859G>A	X.37:g.29935661G>A	ENSP00000368278:p.Glu287Lys		29845582	NM_014271	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743894	0.89663	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.13901	2.55;2.55	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051429	0.85682	D	0.000000	T	0.33527	0.0866	L	0.57536	1.79	0.58432	D	0.999996	D	0.59357	0.985	P	0.62885	0.908	T	0.00638	-1.1632	9	.	.	.	.	18.9267	0.92548	0.0:0.0:1.0:0.0	.	287	Q9NZN1	IRPL1_HUMAN	K	287	ENSP00000368278:E287K;ENSP00000305200:E287K	.	E	+	1	0	IL1RAPL1	29845582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.417000	0.82017	0.600000	0.82982	GAA		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
IL1RAPL1	11141	broad.mit.edu	37	X	29973736	29973736	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:29973736C>T	ENST00000378993.1	+	11	2563	c.1890C>T	c.(1888-1890)taC>taT	p.Y630Y	IL1RAPL1_ENST00000302196.4_Silent_p.Y630Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	630	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.Y630Y(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTATGAGTACGACGTACCTC	0.517																																					p.Y630Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1890T	X						.						91.0	44.0	60.0					X																	29973736		2202	4300	6502	29883657	SO:0001819	synonymous_variant	11141	exon11			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1890C>T	X.37:g.29973736C>T			29883657	NM_014271	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				0.517	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
MAGEB2	4113	broad.mit.edu	37	X	30237186	30237186	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:30237186C>A	ENST00000378988.4	+	2	590	c.489C>A	c.(487-489)gtC>gtA	p.V163V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	163	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V163V(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCAGTGTTGTCTTTGGCCTTG	0.498																																					p.V163V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C489A	X						.						51.0	46.0	48.0					X																	30237186		2202	4300	6502	30147107	SO:0001819	synonymous_variant	4113	exon2			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.489C>A	X.37:g.30237186C>A			30147107	NM_002364	O75860	Silent	SNP	ENST00000378988.4	37	CCDS14219.1																																																																																				0.498	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
MAGEB1	4112	broad.mit.edu	37	X	30269013	30269013	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:30269013C>T	ENST00000378981.3	+	4	724	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	MAGEB1_ENST00000397550.1_Silent_p.L135L|MAGEB1_ENST00000397548.2_Silent_p.L135L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	135	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L135L(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GGCAGATATGCTGAAGGTTGT	0.463																																					p.L135L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C403T	X						.						63.0	49.0	54.0					X																	30269013		2202	4300	6502	30178934	SO:0001819	synonymous_variant	4112	exon4				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.403C>T	X.37:g.30269013C>T			30178934	NM_002363	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	CCDS14222.1																																																																																				0.463	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
CXorf21	80231	broad.mit.edu	37	X	30577583	30577583	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:30577583C>A	ENST00000378962.3	-	3	1212	c.890G>T	c.(889-891)aGc>aTc	p.S297I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	297								p.S297I(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATTTACATTGCTATACTGAGA	0.383																																					p.S297I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890T	X						.						68.0	60.0	63.0					X																	30577583		2202	4300	6502	30487504	SO:0001583	missense	80231	exon3			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.890G>T	X.37:g.30577583C>A	ENSP00000368245:p.Ser297Ile		30487504	NM_025159		Missense_Mutation	SNP	ENST00000378962.3	37	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.714213	0.68730	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.297876	0.35525	N	0.003145	T	0.76926	0.4056	L	0.60455	1.87	0.46631	D	0.999138	D	0.76494	0.999	D	0.85130	0.997	T	0.79245	-0.1883	9	0.72032	D	0.01	-3.3288	17.6373	0.88125	0.0:1.0:0.0:0.0	.	297	Q9HAI6	CX021_HUMAN	I	297	.	ENSP00000368245:S297I	S	-	2	0	CXorf21	30487504	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	3.998000	0.57024	2.351000	0.79841	0.513000	0.50165	AGC		0.383	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159	
DMD	1756	broad.mit.edu	37	X	31947777	31947777	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:31947777A>G	ENST00000357033.4	-	47	7054	c.6848T>C	c.(6847-6849)aTa>aCa	p.I2283T	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2279T|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2283					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I2278T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTGGGCTTATGGGAGCACT	0.428																																					p.I942T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2825C	X						.						211.0	166.0	181.0					X																	31947777		2202	4300	6502	31857698	SO:0001583	missense	1756	exon19			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6848T>C	X.37:g.31947777A>G	ENSP00000354923:p.Ile2283Thr		31857698	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028615	0.35797	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.34472	1.36;1.36	5.02	3.85	0.44370	.	0.443560	0.15066	U	0.282484	T	0.22003	0.0530	N	0.21448	0.665	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.002;0.0;0.003;0.003	B;B;B;B;B	0.11329	0.002;0.004;0.004;0.006;0.006	T	0.04360	-1.0957	10	0.11794	T	0.64	.	9.5333	0.39207	0.915:0.0:0.085:0.0	.	2275;2283;2279;942;939	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	2275;942;939;2279;2283;2283;2160	ENSP00000367948:I2279T;ENSP00000354923:I2283T	ENSP00000354923:I2283T	I	-	2	0	DMD	31857698	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.061000	0.64319	1.763000	0.52060	0.486000	0.48141	ATA		0.428	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32361387	32361387	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:32361387C>T	ENST00000357033.4	-	40	5809	c.5603G>A	c.(5602-5604)aGa>aAa	p.R1868K	DMD_ENST00000378677.2_Missense_Mutation_p.R1864K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1868	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1863K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTTTTCTTCTTTGAGACCT	0.348																																					p.R527K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1580A	X						.						98.0	88.0	91.0					X																	32361387		2202	4299	6501	32271308	SO:0001583	missense	1756	exon12			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5603G>A	X.37:g.32361387C>T	ENSP00000354923:p.Arg1868Lys		32271308	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848459	0.71603	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.58940	0.3;0.3;0.3	5.62	5.62	0.85841	.	0.000000	0.40554	U	0.001063	T	0.66790	0.2825	L	0.39898	1.24	0.80722	D	1	D;D;D;P;P	0.67145	0.996;0.996;0.994;0.956;0.956	D;P;D;D;D	0.76071	0.987;0.824;0.97;0.931;0.931	T	0.58685	-0.7593	10	0.09084	T	0.74	.	18.8812	0.92356	0.0:1.0:0.0:0.0	.	1860;1868;1864;527;524	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1860;527;524;1864;1868;1868;1745;87	ENSP00000367948:R1864K;ENSP00000354923:R1868K;ENSP00000417725:R87K	ENSP00000354923:R1868K	R	-	2	0	DMD	32271308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.709000	0.74665	2.493000	0.84123	0.594000	0.82650	AGA		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32430296	32430296	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:32430296G>T	ENST00000357033.4	-	30	4278				DMD_ENST00000378677.2_Intron	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.P11T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAATAGGCTGGAAAAAAAATT	0.338																																					p.P11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31A	X						.						66.0	56.0	59.0					X																	32430296		1863	4093	5956	32340217	SO:0001627	intron_variant	1756	exon1			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4072-266C>A	X.37:g.32430296G>T			32340217	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Intron	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.479609	0.01035	.	.	ENSG00000198947	ENST00000378682	.	.	.	5.3	-1.0	0.10196	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	8	0.62326	D	0.03	.	1.505	0.02484	0.2809:0.2296:0.3698:0.1197	.	11	E7EQS7	.	T	11	.	ENSP00000367953:P11T	P	-	1	0	DMD	32340217	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.651000	0.24873	-0.103000	0.12175	-1.236000	0.01555	CCA		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32613885	32613885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:32613885C>A	ENST00000357033.4	-	13	1797	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*	DMD_ENST00000288447.4_Nonsense_Mutation_p.E523*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E527*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	531			Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E526*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAAGTTGTTCTTCCAAAGCA	0.328																																					p.E531X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1591T	X						.						140.0	113.0	122.0					X																	32613885		2202	4300	6502	32523806	SO:0001587	stop_gained	1756	exon13			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1591G>T	X.37:g.32613885C>A	ENSP00000354923:p.Glu531*		32523806	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	39	7.338143	0.98221	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	.	.	.	5.74	3.65	0.41850	.	0.000000	0.37530	U	0.002044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.632	0.28245	0.0:0.6781:0.14:0.1819	.	.	.	.	X	523;527;531;531;408;523	.	ENSP00000288447:E523X	E	-	1	0	DMD	32523806	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	1.731000	0.38135	1.178000	0.42870	0.538000	0.68166	GAA		0.328	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32834697	32834697	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:32834697G>T	ENST00000357033.4	-	6	624	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	DMD_ENST00000288447.4_Missense_Mutation_p.L132I|DMD_ENST00000378677.2_Missense_Mutation_p.L136I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	140	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L135I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCTCAGGAGAATCTTTTCA	0.388																																					p.L140I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418A	X						.						170.0	148.0	155.0					X																	32834697		2202	4300	6502	32744618	SO:0001583	missense	1756	exon6			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.418C>A	X.37:g.32834697G>T	ENSP00000354923:p.Leu140Ile		32744618	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843419	0.71488	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.98028	-4.67;-4.67;-4.67	5.51	4.53	0.55603	Calponin homology domain (5);	0.000000	0.32935	U	0.005469	D	0.98538	0.9512	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.997;0.996;0.999;0.997	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.996;0.999	D	0.98888	1.0772	10	0.72032	D	0.01	.	6.5008	0.22168	0.3027:0.0:0.6973:0.0	.	140;132;132;140;136	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	I	132;136;140;140;17;132	ENSP00000367948:L136I;ENSP00000354923:L140I;ENSP00000288447:L132I	ENSP00000288447:L132I	L	-	1	0	DMD	32744618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.647000	0.46639	2.300000	0.77407	0.600000	0.82982	CTC		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
FAM47A	158724	broad.mit.edu	37	X	34148398	34148398	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:34148398G>A	ENST00000346193.3	-	1	2049	c.1998C>T	c.(1996-1998)gaC>gaT	p.D666D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	666								p.D666D(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAAGAATTTGTCCTCATCCT	0.448																																					p.D666D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1998T	X						.						90.0	90.0	90.0					X																	34148398		2196	4294	6490	34058319	SO:0001819	synonymous_variant	158724	exon1			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1998C>T	X.37:g.34148398G>A			34058319	NM_203408	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.448	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
MAGEB16	139604	broad.mit.edu	37	X	35821084	35821084	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:35821084G>T	ENST00000399989.1	+	2	1050	c.771G>T	c.(769-771)gaG>gaT	p.E257D	MAGEB16_ENST00000399992.1_Missense_Mutation_p.E289D|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E257D|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E257D|MAGEB16_ENST00000399988.1_Missense_Mutation_p.E257D	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	257	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E424D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGTGAAGGAGAAGTACCTGG	0.483																																					p.E257D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G771T	X						.						39.0	39.0	39.0					X																	35821084		2190	4293	6483	35731005	SO:0001583	missense	139604	exon2				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.771G>T	X.37:g.35821084G>T	ENSP00000382871:p.Glu257Asp		35731005	NM_001099921	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288065	0.40494	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	3.06	-2.37	0.06643	.	0.112463	0.64402	D	0.000010	T	0.11580	0.0282	M	0.86028	2.79	0.09310	N	1	P	0.52577	0.954	P	0.47251	0.542	T	0.06607	-1.0817	10	0.46703	T	0.11	.	7.8104	0.29228	0.4088:0.0:0.5912:0.0	.	257	A2A368	MAGBG_HUMAN	D	257;289;257;257;257	ENSP00000382870:E257D;ENSP00000382874:E289D;ENSP00000382869:E257D;ENSP00000382871:E257D;ENSP00000382867:E257D	ENSP00000382867:E257D	E	+	3	2	MAGEB16	35731005	0.001000	0.12720	0.000000	0.03702	0.297000	0.27493	0.019000	0.13444	-0.634000	0.05538	-0.482000	0.04802	GAG		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
CXorf22	170063	broad.mit.edu	37	X	35993925	35993925	+	Missense_Mutation	SNP	C	C	T	rs141343030	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:35993925C>T	ENST00000297866.5	+	15	2674	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	870								p.R870W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACATGTTTTCGGGGGACAGT	0.433													C|||	5	0.0013245	0.0038	0.0	3775	,	,		12571	0.0		0.0	False		,,,				2504	0.0				p.R870W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2608T	X						.	C	TRP/ARG	9,3824		0,9,0,1622,571	179.0	158.0	165.0		2608	0.5	0.0	X	dbSNP_134	165	1,6727		0,0,1,2428,1871	yes	missense	CXorf22	NM_152632.3	101	0,9,1,4050,2442	TT,TC,T,CC,C		0.0149,0.2348,0.0947	probably-damaging	870/977	35993925	10,10551	2202	4300	6502	35903846	SO:0001583	missense	170063	exon15			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2608C>T	X.37:g.35993925C>T	ENSP00000297866:p.Arg870Trp		35903846	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	7.029	0.560314	0.13498	0.002348	1.49E-4	ENSG00000165164	ENST00000297866	T	0.18502	2.21	5.14	0.539	0.17156	.	0.152729	0.56097	N	0.000023	T	0.14830	0.0358	M	0.71581	2.175	0.09310	N	1	P	0.42409	0.779	B	0.34489	0.184	T	0.14392	-1.0474	10	0.87932	D	0	-0.4751	6.3717	0.21485	0.2469:0.5224:0.0:0.2307	.	870	Q6ZTR5	CX022_HUMAN	W	870	ENSP00000297866:R870W	ENSP00000297866:R870W	R	+	1	2	CXorf22	35903846	0.969000	0.33509	0.005000	0.12908	0.058000	0.15608	0.674000	0.25218	-0.279000	0.09167	-0.191000	0.12829	CGG		0.433	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
FAM47C	442444	broad.mit.edu	37	X	37027491	37027491	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:37027491G>T	ENST00000358047.3	+	1	1060	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	336								p.K336N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCAAGACTCTGGTGT	0.617																																					p.K336N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1008T	X						.						77.0	73.0	75.0					X																	37027491		2202	4299	6501	36937412	SO:0001583	missense	442444	exon1			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1008G>T	X.37:g.37027491G>T	ENSP00000367913:p.Lys336Asn		36937412	NM_001013736	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	7.970	0.748842	0.15710	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.95	0.95	0.19572	.	.	.	.	.	T	0.32346	0.0826	M	0.63843	1.955	0.09310	N	1	D	0.63046	0.992	D	0.65874	0.939	T	0.21895	-1.0232	9	0.16420	T	0.52	.	5.1634	0.15073	0.0:0.3706:0.6294:0.0	.	336	Q5HY64	FA47C_HUMAN	N	336	ENSP00000367913:K336N	ENSP00000367913:K336N	K	+	3	2	FAM47C	36937412	0.004000	0.15560	0.012000	0.15200	0.012000	0.07955	0.850000	0.27737	0.177000	0.19895	0.179000	0.17066	AAG		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
PRRG1	5638	broad.mit.edu	37	X	37285205	37285205	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:37285205C>A	ENST00000542554.1	+	4	395	c.123C>A	c.(121-123)ttC>ttA	p.F41L	PRRG1_ENST00000491253.1_Intron|TM4SF2_ENST00000465127.1_Missense_Mutation_p.F41L|PRRG1_ENST00000449135.2_Missense_Mutation_p.F41L|PRRG1_ENST00000463135.1_Missense_Mutation_p.F41L|PRRG1_ENST00000378628.4_Missense_Mutation_p.F41L|PRRG1_ENST00000543642.1_Missense_Mutation_p.F41L	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	41	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F41L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGAAGAATTCTGTACATTTG	0.348																																					p.F41L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C123A	X						.						56.0	54.0	54.0					X																	37285205		2202	4300	6502	37170126	SO:0001583	missense	5638	exon3			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.123C>A	X.37:g.37285205C>A	ENSP00000444278:p.Phe41Leu		37170126	NM_001173486	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568986	0.28003	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99005	-5.32;-5.32;-5.32;-5.32;-5.32;-5.32;-5.32;-5.32	4.94	1.54	0.23209	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.798476	0.11739	N	0.534198	D	0.91116	0.7203	N	0.00399	-1.545	0.23249	N	0.998042	B	0.02656	0.0	B	0.01281	0.0	D	0.87953	0.2725	10	0.20519	T	0.43	-2.4198	5.5445	0.17055	0.0:0.5975:0.152:0.2505	.	41	O14668	TMG1_HUMAN	L	41	ENSP00000367894:F41L;ENSP00000418384:F41L;ENSP00000444278:F41L;ENSP00000443271:F41L;ENSP00000420353:F41L;ENSP00000390332:F41L;ENSP00000419999:F41L;ENSP00000417050:F41L	ENSP00000367894:F41L	F	+	3	2	RP5-972B16.2;PRRG1	37170126	0.001000	0.12720	0.927000	0.36925	0.968000	0.65278	-0.157000	0.10085	0.170000	0.19704	0.544000	0.68410	TTC		0.348	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950	
SYTL5	94122	broad.mit.edu	37	X	37913673	37913673	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:37913673C>T	ENST00000357972.5	+	3	873	c.327C>T	c.(325-327)atC>atT	p.I109I	SYTL5_ENST00000297875.2_Silent_p.I109I|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Silent_p.I109I			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	109	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.I109I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GTGACAAAATCGCGTGAGTTT	0.478																																					p.I109I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	X						.						56.0	51.0	52.0					X																	37913673		2202	4300	6502	37798617	SO:0001819	synonymous_variant	94122	exon3				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.327C>T	X.37:g.37913673C>T			37798617	NM_138780	A2RRF2	Silent	SNP	ENST00000357972.5	37	CCDS14244.1																																																																																				0.478	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
ATP6AP2	10159	broad.mit.edu	37	X	40464996	40464996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:40464996C>T	ENST00000378438.4	+	9	1200	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	ATP6AP2_ENST00000535777.1_Nonsense_Mutation_p.R270*|ATP6AP2_ENST00000544975.1_Nonsense_Mutation_p.R272*|ATP6AP2_ENST00000535539.1_Nonsense_Mutation_p.R316*	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	348					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)	p.R348*(2)		endometrium(1)|large_intestine(1)|lung(2)	4						CCAGAAGATTCGAATGGATTG	0.368																																					p.R348X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1042T	X						.						80.0	69.0	73.0					X																	40464996		2203	4300	6503	40349940	SO:0001587	stop_gained	10159	exon9			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.1042C>T	X.37:g.40464996C>T	ENSP00000367697:p.Arg348*		40349940	NM_005765	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Nonsense_Mutation	SNP	ENST00000378438.4	37	CCDS14252.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508107	0.85282	.	.	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000544975;ENST00000535777	.	.	.	5.65	5.65	0.86999	.	0.103987	0.64402	D	0.000005	.	.	.	.	.	.	0.49389	D	0.999786	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-29.7493	11.8032	0.52139	0.3156:0.6844:0.0:0.0	.	.	.	.	X	316;348;272;270	.	ENSP00000367697:R348X	R	+	1	2	ATP6AP2	40349940	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.111000	0.50360	2.377000	0.81083	0.600000	0.82982	CGA		0.368	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765	
USP9X	8239	broad.mit.edu	37	X	41084340	41084340	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:41084340G>T	ENST00000324545.8	+	41	7644	c.7011G>T	c.(7009-7011)ttG>ttT	p.L2337F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2337F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2337					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L2330F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCCCTATTTGGATCTGCTTT	0.383																																					p.L2337F	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7011T	X						.						168.0	149.0	155.0					X																	41084340		2066	4202	6268	40969284	SO:0001583	missense	8239	exon41			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7011G>T	X.37:g.41084340G>T	ENSP00000316357:p.Leu2337Phe		40969284	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099588	0.20552	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03553	3.89;3.9	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	N	0.21097	0.63	0.80722	D	1	B;B	0.19445	0.029;0.036	B;B	0.19148	0.024;0.014	T	0.53648	-0.8409	10	0.23302	T	0.38	.	18.6323	0.91364	0.0:0.0:1.0:0.0	.	2337;2337	Q93008-1;Q93008	.;USP9X_HUMAN	F	2337	ENSP00000367558:L2337F;ENSP00000316357:L2337F	ENSP00000316357:L2337F	L	+	3	2	USP9X	40969284	1.000000	0.71417	0.998000	0.56505	0.002000	0.02628	6.234000	0.72326	2.344000	0.79699	0.544000	0.68410	TTG		0.383	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
GPR34	2857	broad.mit.edu	37	X	41555214	41555214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:41555214C>T	ENST00000378142.4	+	3	612	c.328C>T	c.(328-330)Cga>Tga	p.R110*	CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|GPR34_ENST00000378138.5_Nonsense_Mutation_p.R110*|CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	110					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R110*(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CCTCCCTTTCCGAATAATGTA	0.368																																					p.R110X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C328T	X						.						152.0	141.0	145.0					X																	41555214		2203	4300	6503	41440158	SO:0001587	stop_gained	2857	exon3			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.328C>T	X.37:g.41555214C>T	ENSP00000367384:p.Arg110*		41440158	NM_005300	O95853	Nonsense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	36	5.728854	0.96856	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7556	19.3529	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	110;110;63	.	ENSP00000367378:R110X	R	+	1	2	GPR34	41440158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.189000	0.50965	2.523000	0.85059	0.594000	0.82650	CGA		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
EFHC2	80258	broad.mit.edu	37	X	44037698	44037698	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:44037698C>T	ENST00000420999.1	-	12	1947	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	622							calcium ion binding (GO:0005509)	p.A622T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TGGGCCAGTGCGATTAAGAAA	0.393																																					p.A622T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1864A	X						.						67.0	57.0	60.0					X																	44037698		1853	4087	5940	43922642	SO:0001583	missense	80258	exon12			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1864G>A	X.37:g.44037698C>T	ENSP00000404232:p.Ala622Thr		43922642	NM_025184	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.55|13.55	2.269417|2.269417	0.40095|0.40095	.|.	.|.	ENSG00000183690|ENSG00000183690	ENST00000343571;ENST00000333807;ENST00000420999|ENST00000441230	T;T;T|.	0.80033|.	0.89;-1.33;-1.33|.	5.53|5.53	1.28|1.28	0.21552|0.21552	EF-hand-like domain (1);|.	0.244018|.	0.40385|.	N|.	0.001108|.	T|T	0.44265|0.44265	0.1285|0.1285	M|M	0.65498|0.65498	2.005|2.005	0.18873|0.18873	N|N	0.999983|0.999983	P|.	0.42296|.	0.775|.	B|.	0.28916|.	0.096|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.52906|.	T|.	0.07|.	-9.3455|-9.3455	6.0251|6.0251	0.19650|0.19650	0.4592:0.4437:0.0:0.0971|0.4592:0.4437:0.0:0.0971	.|.	622|.	Q5JST6|.	EFHC2_HUMAN|.	T|H	35;622;650|602	ENSP00000340643:A35T;ENSP00000333823:A622T;ENSP00000404232:A650T|.	ENSP00000333823:A622T|.	A|R	-|-	1|2	0|0	EFHC2|EFHC2	43922642|43922642	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.032000|0.032000	0.12392|0.12392	-0.256000|-0.256000	0.08757|0.08757	0.171000|0.171000	0.19730|0.19730	0.594000|0.594000	0.82650|0.82650	GCA|CGC		0.393	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	
ZNF674	641339	broad.mit.edu	37	X	46360481	46360481	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:46360481G>A	ENST00000523374.1	-	6	753	c.543C>T	c.(541-543)tgC>tgT	p.C181C	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Silent_p.C175C	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TATAATGGAGGCATACTTTCC	0.378																																					p.C176C												.	.	0			c.C528T	X						.						64.0	53.0	57.0					X																	46360481		1965	4146	6111	46245425	SO:0001819	synonymous_variant	641339	exon6			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.543C>T	X.37:g.46360481G>A			46245425	NM_001190417	B4DHE2|E9PHQ4	Silent	SNP	ENST00000523374.1	37	CCDS48099.1																																																																																				0.378	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
RP2	6102	broad.mit.edu	37	X	46713160	46713160	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:46713160C>T	ENST00000218340.3	+	2	513	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	118	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.		R -> C (in RP2). {ECO:0000269|PubMed:12657579}.|R -> H (in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location). {ECO:0000269|PubMed:10090907, ECO:0000269|PubMed:10520237, ECO:0000269|PubMed:10937588, ECO:0000269|PubMed:11992260, ECO:0000269|PubMed:12657579, ECO:0000269|PubMed:14564670, ECO:0000269|PubMed:9697692}.|R -> L (in RP2; dbSNP:rs28933687). {ECO:0000269|PubMed:11462235}.		cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.R118C(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CCAACAATTTCGTGTGCGAGA	0.418																																					p.R118C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C352T	X	GRCh37	CM033008|CM077334	RP2	M		.						130.0	118.0	122.0					X																	46713160		2203	4300	6503	46598104	SO:0001583	missense	6102	exon2			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.352C>T	X.37:g.46713160C>T	ENSP00000218340:p.Arg118Cys		46598104	NM_006915	Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594517	0.86953	.	.	ENSG00000102218	ENST00000218340	D	0.90844	-2.74	5.62	5.62	0.85841	CARP motif (1);Tubulin binding cofactor C (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97354	0.9965	10	0.49607	T	0.09	-6.3424	18.6553	0.91450	0.0:1.0:0.0:0.0	.	118	O75695	XRP2_HUMAN	C	118	ENSP00000218340:R118C	ENSP00000218340:R118C	R	+	1	0	RP2	46598104	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.371000	0.79600	2.349000	0.79799	0.513000	0.50165	CGT		0.418	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915	
JADE3	9767	broad.mit.edu	37	X	46913788	46913788	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:46913788C>T	ENST00000218343.4	+	9	1499	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	PHF16_ENST00000397189.1_Missense_Mutation_p.R401W	NM_014735.3	NP_055550.1												p.R401W(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ACAGAAGCTTCGGGAGCTGGA	0.537																																					p.R401W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201T	X						.						62.0	59.0	60.0					X																	46913788		2203	4300	6503	46798732	SO:0001583	missense	9767	exon9																														ENST00000218343.4:c.1201C>T	X.37:g.46913788C>T	ENSP00000218343:p.Arg401Trp		46798732	NM_014735		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167592	0.57476	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.52983	0.64;0.64	4.99	0.203	0.15195	.	0.448812	0.25068	N	0.033393	T	0.49541	0.1563	L	0.59436	1.845	0.09310	N	0.99999	D	0.64830	0.994	P	0.51657	0.676	T	0.46610	-0.9179	10	0.59425	D	0.04	.	9.7666	0.40565	0.4846:0.4391:0.0:0.0763	.	401	Q92613	JADE3_HUMAN	W	401	ENSP00000380373:R401W;ENSP00000218343:R401W	ENSP00000218343:R401W	R	+	1	2	PHF16	46798732	0.935000	0.31712	0.183000	0.23137	0.969000	0.65631	0.596000	0.24044	0.086000	0.17137	-0.174000	0.13273	CGG		0.537	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
JADE3	9767	broad.mit.edu	37	X	46918268	46918268	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:46918268G>A	ENST00000218343.4	+	11	2559	c.2261G>A	c.(2260-2262)cGg>cAg	p.R754Q	PHF16_ENST00000397189.1_Missense_Mutation_p.R754Q	NM_014735.3	NP_055550.1												p.R754Q(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTTCTCAGGCGGTCTGCAGGG	0.488																																					p.R754Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2261A	X						.						49.0	43.0	45.0					X																	46918268		2203	4300	6503	46803212	SO:0001583	missense	9767	exon11																														ENST00000218343.4:c.2261G>A	X.37:g.46918268G>A	ENSP00000218343:p.Arg754Gln		46803212	NM_014735		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	9.061	0.994469	0.19043	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.51817	0.69;0.69	5.72	3.58	0.41010	.	1.354970	0.04425	N	0.368291	T	0.27697	0.0681	N	0.19112	0.55	0.09310	N	1	P	0.37158	0.585	B	0.23852	0.049	T	0.18147	-1.0346	10	0.16896	T	0.51	.	6.1687	0.20404	0.1109:0.0:0.6992:0.1899	.	754	Q92613	JADE3_HUMAN	Q	754	ENSP00000380373:R754Q;ENSP00000218343:R754Q	ENSP00000218343:R754Q	R	+	2	0	PHF16	46803212	0.235000	0.23794	0.964000	0.40570	0.966000	0.64601	0.857000	0.27831	1.140000	0.42260	0.594000	0.82650	CGG		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
RBM10	8241	broad.mit.edu	37	X	47045658	47045658	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47045658G>T	ENST00000377604.3	+	23	3281	c.2539G>T	c.(2539-2541)Gac>Tac	p.D847Y	RBM10_ENST00000345781.6_Splice_Site_p.D770Y|RBM10_ENST00000329236.7_Splice_Site_p.D769Y	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	847					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.D847Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCCCTGCAGAGACTTCGAGCA	0.692																																					p.D847Y	Melanoma(171;120 2705 19495 39241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2539T	X						.						36.0	38.0	37.0					X																	47045658		2198	4299	6497	46930602	SO:0001630	splice_region_variant	8241	exon23			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2538-1G>T	X.37:g.47045658G>T			46930602	NM_005676	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636567	0.67130	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20332	2.75;2.08;2.35	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000011	T	0.32823	0.0842	L	0.29908	0.895	0.43693	D	0.996149	D;D;D;D;P	0.69078	0.997;0.972;0.964;0.997;0.939	D;P;P;D;P	0.65010	0.931;0.781;0.601;0.931;0.781	T	0.03103	-1.1072	10	0.66056	D	0.02	-37.8434	14.385	0.66938	0.0:0.0:1.0:0.0	.	770;912;846;769;847	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	Y	847;769;770	ENSP00000366829:D847Y;ENSP00000328848:D769Y;ENSP00000329659:D770Y	ENSP00000328848:D769Y	D	+	1	0	RBM10	46930602	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	2.830000	0.48136	2.562000	0.86427	0.600000	0.82982	GAC		0.692	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	Missense_Mutation
UBA1	7317	broad.mit.edu	37	X	47062533	47062533	+	Splice_Site	SNP	C	C	T	rs570568650		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47062533C>T	ENST00000335972.6	+	13	1522	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	UBA1_ENST00000490869.1_3'UTR|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Splice_Site_p.R447C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	447	2 approximate repeats.		R -> H (in dbSNP:rs2070169).		cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.R447C(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATTCCTTAGCGCCAGAACCG	0.557																																					p.R447C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1339T	X						.						125.0	100.0	109.0					X																	47062533		2203	4300	6503	46947477	SO:0001630	splice_region_variant	7317	exon13			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1339-1C>T	X.37:g.47062533C>T			46947477	NM_153280	Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	C	6.164	0.398495	0.11696	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.20738	2.05;2.05	5.42	3.61	0.41365	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.098654	0.64402	N	0.000005	T	0.19765	0.0475	M	0.64170	1.965	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04767	-1.0928	9	.	.	.	-3.192	7.6391	0.28284	0.1634:0.7473:0.0:0.0894	.	447	P22314	UBA1_HUMAN	C	447	ENSP00000366568:R447C;ENSP00000338413:R447C	.	R	+	1	0	UBA1	46947477	0.997000	0.39634	0.764000	0.31436	0.032000	0.12392	1.004000	0.29822	0.543000	0.28864	0.597000	0.82753	CGC		0.557	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	Missense_Mutation
USP11	8237	broad.mit.edu	37	X	47107215	47107215	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47107215C>A	ENST00000218348.3	+	21	2778	c.2778C>A	c.(2776-2778)ttC>ttA	p.F926L	USP11_ENST00000377107.2_Missense_Mutation_p.F883L	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	926	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.F926L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGTCCTCTTCTACCAACGCC	0.642																																					p.F926L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2778A	X						.						75.0	59.0	64.0					X																	47107215		2203	4300	6503	46992159	SO:0001583	missense	8237	exon21			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2778C>A	X.37:g.47107215C>A	ENSP00000218348:p.Phe926Leu		46992159	NM_004651	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.977146	0.74360	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.39056	1.1;1.1	4.89	4.03	0.46877	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.218384	0.37178	N	0.002207	T	0.57917	0.2086	M	0.69185	2.1	0.39671	D	0.97075	D;D	0.89917	1.0;1.0	D;D	0.79784	0.991;0.993	T	0.61267	-0.7097	10	0.87932	D	0	-21.7709	7.7986	0.29162	0.0:0.8029:0.0:0.1971	.	652;926	B3KP28;P51784	.;UBP11_HUMAN	L	883;926	ENSP00000366311:F883L;ENSP00000218348:F926L	ENSP00000218348:F926L	F	+	3	2	USP11	46992159	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.317000	0.59184	1.046000	0.40249	0.431000	0.28591	TTC		0.642	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
ZNF157	7712	broad.mit.edu	37	X	47272616	47272616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47272616G>T	ENST00000377073.3	+	4	1230	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	382					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G382*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AATTCACACAGGAGAGAAACC	0.428																																					p.G382X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1144T	X						.						51.0	47.0	49.0					X																	47272616		2203	4300	6503	47157560	SO:0001587	stop_gained	7712	exon4			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1144G>T	X.37:g.47272616G>T	ENSP00000366273:p.Gly382*		47157560	NM_003446	Q96LE9	Nonsense_Mutation	SNP	ENST00000377073.3	37	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940319	0.92526	.	.	ENSG00000147117	ENST00000377073	.	.	.	3.18	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.681	0.28513	0.1367:0.0:0.8633:0.0	.	.	.	.	X	382	.	ENSP00000366273:G382X	G	+	1	0	ZNF157	47157560	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.595000	0.67563	0.718000	0.32166	0.600000	0.82982	GGA		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446	
ZNF41	7592	broad.mit.edu	37	X	47307476	47307476	+	Missense_Mutation	SNP	G	G	A	rs376568507		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47307476G>A	ENST00000377065.4	-	5	2332	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	ZNF41_ENST00000313116.7_Missense_Mutation_p.R565C|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.R575C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	607					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.R565C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTTTGAGGCGCGACTTCCAT	0.423																																					p.R565C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1693T	X						.	G	CYS/ARG,CYS/ARG	0,3835		0,0,0,1632,571	83.0	71.0	75.0		1693,1693	2.1	0.5	X		75	1,6727		0,0,1,2428,1871	no	missense,missense	ZNF41	NM_007130.2,NM_153380.2	180,180	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	565/780,565/780	47307476	1,10562	2203	4300	6503	47192420	SO:0001583	missense	7592	exon5			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1693C>T	X.37:g.47307476G>A	ENSP00000366265:p.Arg565Cys		47192420	NM_153380	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906458	0.33628	0.0	1.49E-4	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.08102	3.13;3.13;3.13	3.98	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35838	N	0.002955	T	0.10337	0.0253	N	0.10664	0.02	0.09310	N	1	D;D;D;D;D	0.89917	0.991;0.991;1.0;0.997;0.994	P;P;D;P;P	0.66196	0.666;0.666;0.942;0.747;0.563	T	0.16988	-1.0384	10	0.51188	T	0.08	.	11.1003	0.48170	0.0:0.3475:0.6525:0.0	.	565;567;575;599;607	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	C	565;565;575	ENSP00000315173:R565C;ENSP00000366265:R565C;ENSP00000380243:R575C	ENSP00000315173:R565C	R	-	1	0	ZNF41	47192420	0.000000	0.05858	0.533000	0.28001	0.990000	0.78478	-3.144000	0.00585	0.430000	0.26230	0.600000	0.82982	CGC		0.423	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380	
SYN1	6853	broad.mit.edu	37	X	47464411	47464411	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47464411A>G	ENST00000295987.7	-	5	864	c.740T>C	c.(739-741)aTt>aCt	p.I247T	SYN1_ENST00000340666.4_Missense_Mutation_p.I247T	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	247	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.I247T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						GGTCTGATCAATTAGAGGGAA	0.438																																					p.I247T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T740C	X						.						129.0	105.0	113.0					X																	47464411		2203	4300	6503	47349355	SO:0001583	missense	6853	exon5				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.740T>C	X.37:g.47464411A>G	ENSP00000295987:p.Ile247Thr		47349355	NM_133499	B1AJQ1|O75825|Q5H9A9	Missense_Mutation	SNP	ENST00000295987.7	37	CCDS14280.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043739	0.75732	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	T;T	0.38401	1.6;1.14	4.88	4.88	0.63580	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.64402	D	0.000002	T	0.62429	0.2427	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.965;1.0	D;D	0.97110	0.971;1.0	T	0.68591	-0.5368	10	0.87932	D	0	-1.8326	11.6533	0.51301	1.0:0.0:0.0:0.0	.	247;247	P17600;P17600-2	SYN1_HUMAN;.	T	247	ENSP00000295987:I247T;ENSP00000343206:I247T	ENSP00000295987:I247T	I	-	2	0	SYN1	47349355	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	8.816000	0.91979	1.723000	0.51488	0.441000	0.28932	ATT		0.438	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056445.1	NM_006950	
CFP	5199	broad.mit.edu	37	X	47485784	47485784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47485784G>A	ENST00000396992.3	-	7	1195	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	CFP_ENST00000377005.2_Nonsense_Mutation_p.R359*|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Nonsense_Mutation_p.R359*	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	359	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R359*(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCGGCACATCGATGTCCGTCA	0.612																																					p.R359X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1075T	X						.						63.0	54.0	57.0					X																	47485784		2203	4300	6503	47370728	SO:0001587	stop_gained	5199	exon8			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.1075C>T	X.37:g.47485784G>A	ENSP00000380189:p.Arg359*		47370728	NM_002621	O15134|O15135|O15136|O75826	Nonsense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181472	0.78677	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	.	.	.	5.28	5.28	0.74379	.	0.504643	0.20634	N	0.088532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.5045	0.61477	0.0:0.0:1.0:0.0	.	.	.	.	X	359	.	ENSP00000247153:R359X	R	-	1	2	CFP	47370728	0.066000	0.20996	0.008000	0.14137	0.066000	0.16364	2.434000	0.44802	2.344000	0.79699	0.468000	0.43344	CGA		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621	
ZNF81	347344	broad.mit.edu	37	X	47775202	47775202	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47775202T>G	ENST00000376954.1	+	6	1525	c.1157T>G	c.(1156-1158)tTt>tGt	p.F386C	ZNF81_ENST00000338637.7_Missense_Mutation_p.F386C			P51508	ZNF81_HUMAN	zinc finger protein 81	386					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.F386C(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GAAAAACTCTTTGAATGCAGT	0.408																																					p.F386C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1157G	X						.						59.0	58.0	58.0					X																	47775202		2190	4295	6485	47660146	SO:0001583	missense	347344	exon5			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1157T>G	X.37:g.47775202T>G	ENSP00000366153:p.Phe386Cys		47660146	NM_007137	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	T	8.224	0.803049	0.16397	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.24908	1.83;1.83	4.16	1.77	0.24775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.191498	0.26038	N	0.026715	T	0.28928	0.0718	M	0.86573	2.825	0.22911	N	0.998571	B	0.06786	0.001	B	0.12156	0.007	T	0.40496	-0.9560	10	0.87932	D	0	.	2.9291	0.05794	0.463:0.0:0.1157:0.4213	.	386	P51508	ZNF81_HUMAN	C	386	ENSP00000366153:F386C;ENSP00000341151:F386C	ENSP00000341151:F386C	F	+	2	0	ZNF81	47660146	0.000000	0.05858	0.999000	0.59377	0.947000	0.59692	-0.912000	0.04046	0.248000	0.21435	-0.400000	0.06385	TTT		0.408	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNF182	7569	broad.mit.edu	37	X	47836690	47836690	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47836690C>T	ENST00000396965.1	-	7	1146	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	ZNF182_ENST00000305127.6_Missense_Mutation_p.E266K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E247K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E266K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCGGTACATCCA	0.423																																					p.E266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	X						.						74.0	71.0	72.0					X																	47836690		2203	4300	6503	47721634	SO:0001583	missense	7569	exon7			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.796G>A	X.37:g.47836690C>T	ENSP00000380165:p.Glu266Lys		47721634	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074066	0.55646	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.23552	1.9;1.9;1.9	4.36	4.36	0.52297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24160	0.0585	N	0.25201	0.72	0.27650	N	0.947434	D;P;P	0.54397	0.966;0.926;0.935	P;P;B	0.47102	0.482;0.537;0.323	T	0.06734	-1.0810	9	0.59425	D	0.04	.	13.5566	0.61763	0.0:1.0:0.0:0.0	.	246;247;266	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	247;266;266	ENSP00000366142:E247K;ENSP00000380165:E266K;ENSP00000306351:E266K	ENSP00000306351:E266K	E	-	1	0	ZNF182	47721634	0.000000	0.05858	0.940000	0.37924	0.993000	0.82548	0.117000	0.15583	2.156000	0.67533	0.594000	0.82650	GAA		0.423	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
ZNF630	57232	broad.mit.edu	37	X	47918227	47918227	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:47918227C>A	ENST00000409324.3	-	5	1830	c.1604G>T	c.(1603-1605)aGa>aTa	p.R535I	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_Missense_Mutation_p.R411I|ZNF630_ENST00000442455.3_Missense_Mutation_p.R521I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	535					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.R535I(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGTGTGAACTCTCAGATGAAT	0.453																																					p.R521I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1562T	X						.						52.0	49.0	50.0					X																	47918227		2193	4286	6479	47803171	SO:0001583	missense	57232	exon5			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1604G>T	X.37:g.47918227C>A	ENSP00000386393:p.Arg535Ile		47803171	NM_001190255	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	12.21	1.869689	0.33069	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.31	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38825	0.1055	L	0.58969	1.84	0.34491	D	0.70495	D	0.71674	0.998	D	0.66084	0.941	T	0.52503	-0.8567	9	0.72032	D	0.01	.	6.2102	0.20626	0.0:0.8168:0.0:0.1832	.	535	Q2M218	ZN630_HUMAN	I	521;411;535	ENSP00000393163:R521I;ENSP00000354683:R411I;ENSP00000386393:R535I	ENSP00000354683:R411I	R	-	2	0	ZNF630	47803171	0.000000	0.05858	0.968000	0.41197	0.102000	0.19082	0.718000	0.25866	1.179000	0.42884	0.544000	0.68410	AGA		0.453	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
GATA1	2623	broad.mit.edu	37	X	48652425	48652425	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:48652425G>T	ENST00000376670.3	+	6	1207	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	366					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.G366C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCTCTACCAAGGCCTGGGCCC	0.652			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																p.G366C	Pancreas(9;429 505 11287 29617)		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1096T	X						.						34.0	31.0	32.0					X																	48652425		2203	4300	6503	48537369	SO:0001583	missense	2623	exon6			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1096G>T	X.37:g.48652425G>T	ENSP00000365858:p.Gly366Cys		48537369	NM_002049	Q96GB8	Missense_Mutation	SNP	ENST00000376670.3	37	CCDS14305.1	.	.	.	.	.	.	.	.	.	.	g	15.11	2.735357	0.48939	.	.	ENSG00000102145	ENST00000376670	D	0.97575	-4.44	4.73	3.64	0.41730	.	0.789532	0.11313	U	0.576937	D	0.94525	0.8237	N	0.14661	0.345	0.44042	D	0.996778	D	0.69078	0.997	P	0.53912	0.737	D	0.92229	0.5791	10	0.66056	D	0.02	-12.1236	7.8196	0.29280	0.1437:0.0:0.8563:0.0	.	366	P15976	GATA1_HUMAN	C	366	ENSP00000365858:G366C	ENSP00000365858:G366C	G	+	1	0	GATA1	48537369	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	1.654000	0.37334	1.941000	0.56285	0.365000	0.22127	GGC		0.652	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049	
HDAC6	10013	broad.mit.edu	37	X	48661318	48661318	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:48661318C>A	ENST00000334136.5	+	3	312	c.134C>A	c.(133-135)cCc>cAc	p.P45H	HDAC6_ENST00000376619.2_Missense_Mutation_p.P45H|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_5'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.P59H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	45					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P45H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGCTCTATCCCCAATCTAGCG	0.522																																					p.P45H	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C134A	X						.						55.0	46.0	49.0					X																	48661318		2202	4300	6502	48546262	SO:0001583	missense	10013	exon3			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.134C>A	X.37:g.48661318C>A	ENSP00000334061:p.Pro45His		48546262	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217150	0.58560	.	.	ENSG00000094631	ENST00000423941;ENST00000438518;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T	0.60672	0.17;0.18;0.18	4.42	4.42	0.53409	.	0.547076	0.17305	N	0.179118	T	0.65954	0.2741	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.921;0.921;0.999	T	0.66799	-0.5832	10	0.54805	T	0.06	-21.0505	13.6369	0.62227	0.0:1.0:0.0:0.0	.	35;45;45	B4DZN1;Q9UBN7;Q9BRX7	.;HDAC6_HUMAN;.	H	45;45;45;59;45;45;45;45;45;45;45;45	ENSP00000398566:P59H;ENSP00000334061:P45H;ENSP00000365804:P45H	ENSP00000334061:P45H	P	+	2	0	HDAC6	48546262	0.340000	0.24792	0.721000	0.30653	0.718000	0.41266	0.495000	0.22483	2.176000	0.68965	0.600000	0.82982	CCC		0.522	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
HDAC6	10013	broad.mit.edu	37	X	48681938	48681938	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:48681938G>T	ENST00000334136.5	+	25	3307	c.3129G>T	c.(3127-3129)caG>caT	p.Q1043H	HDAC6_ENST00000376619.2_Missense_Mutation_p.Q1043H|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q1057H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1043					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.Q1043H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTACACCCCAGATATCTCCCA	0.592																																					p.Q1043H	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3129T	X						.						24.0	20.0	21.0					X																	48681938		2203	4292	6495	48566882	SO:0001583	missense	10013	exon25			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3129G>T	X.37:g.48681938G>T	ENSP00000334061:p.Gln1043His		48566882	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	CCDS14306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.76|12.76	2.035652|2.035652	0.35893|0.35893	.|.	.|.	ENSG00000094631|ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619|ENST00000430858	T;T;T|.	0.60920|.	0.15;0.16;0.16|.	4.06|4.06	0.166|0.166	0.14999|0.14999	.|.	1.121610|.	0.06706|.	N|.	0.772318|.	T|T	0.19046|0.19046	0.0457|0.0457	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.10296|.	0.001;0.003;0.001;0.001|.	B;B;B;B|.	0.09377|.	0.001;0.004;0.002;0.001|.	T|T	0.25641|0.25641	-1.0126|-1.0126	10|5	0.13853|.	T|.	0.58|.	-0.8251|-0.8251	4.3404|4.3404	0.11106|0.11106	0.3167:0.371:0.3123:0.0|0.3167:0.371:0.3123:0.0	.|.	1033;406;691;1043|.	B4DZN1;B3KY98;B3KVK5;Q9UBN7|.	.;.;.;HDAC6_HUMAN|.	H|I	1057;1043;1043|4	ENSP00000398566:Q1057H;ENSP00000334061:Q1043H;ENSP00000365804:Q1043H|.	ENSP00000334061:Q1043H|.	Q|R	+|+	3|2	2|0	HDAC6|HDAC6	48566882|48566882	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.744000|0.744000	0.42396|0.42396	-0.032000|-0.032000	0.12266|0.12266	-0.106000|-0.106000	0.12110|0.12110	0.600000|0.600000	0.82982|0.82982	CAG|AGA		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
GRIPAP1	56850	broad.mit.edu	37	X	48847364	48847364	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:48847364G>T	ENST00000376441.1	-	7	650	c.616C>A	c.(616-618)Ctc>Atc	p.L206I	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.L161I|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.L153I|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.L206I	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	206						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.L153I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGTTCCCAGAGCAATCTCTTC	0.592																																					p.L206I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616A	X						.						127.0	109.0	115.0					X																	48847364		2203	4300	6503	48732308	SO:0001583	missense	56850	exon7			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.616C>A	X.37:g.48847364G>T	ENSP00000365624:p.Leu206Ile		48732308	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907000	0.72868	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000003	T	0.41650	0.1168	L	0.35723	1.085	0.34219	D	0.675192	D;D;P	0.71674	0.998;0.996;0.946	D;D;B	0.83275	0.996;0.994;0.41	T	0.54043	-0.8352	10	0.46703	T	0.11	-4.4649	8.7286	0.34485	0.1066:0.0:0.8934:0.0	.	153;96;206	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	I	206;161;206;206;153	ENSP00000365608:L206I;ENSP00000365627:L161I;ENSP00000365624:L206I;ENSP00000365606:L153I	ENSP00000365606:L153I	L	-	1	0	GRIPAP1	48732308	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.919000	0.70005	2.089000	0.63090	0.556000	0.70494	CTC		0.592	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
CACNA1F	778	broad.mit.edu	37	X	49083497	49083497	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:49083497T>C	ENST00000376265.2	-	9	1272	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.Y339C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.Y404C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	404	Binding to the beta subunit. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.Y404C(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGTCCAGGTAGCCCCGCAG	0.607																																					p.Y404C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1211G	X						.						66.0	45.0	52.0					X																	49083497		2203	4300	6503	48970441	SO:0001583	missense	778	exon9			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1211A>G	X.37:g.49083497T>C	ENSP00000365441:p.Tyr404Cys		48970441	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029618	0.54790	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.94537	-3.45;-3.45;-3.45	5.03	5.03	0.67393	.	0.188616	0.47852	D	0.000217	D	0.97489	0.9178	M	0.89715	3.055	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98166	1.0449	10	0.87932	D	0	.	12.8428	0.57813	0.0:0.0:0.0:1.0	.	404;404	F5CIQ9;O60840	.;CAC1F_HUMAN	C	339;404;404	ENSP00000365427:Y339C;ENSP00000321618:Y404C;ENSP00000365441:Y404C	ENSP00000321618:Y404C	Y	-	2	0	CACNA1F	48970441	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.943000	0.87716	1.671000	0.50874	0.347000	0.21830	TAC		0.607	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
CLCN5	1184	broad.mit.edu	37	X	49854843	49854843	+	Silent	SNP	C	C	T	rs150674219		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:49854843C>T	ENST00000307367.2	+	10	1896	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	CLCN5_ENST00000376088.3_Silent_p.I605I|CLCN5_ENST00000376108.3_Silent_p.I535I|CLCN5_ENST00000376091.3_Silent_p.I605I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	535					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.I535I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAGAATACATCGTGCCTCTGA	0.507																																					p.I605I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1815T	X						.	C	,,	1,3834		0,1,1631,571	153.0	140.0	145.0		1605,1815,1815	-0.3	1.0	X	dbSNP_134	145	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	CLCN5	NM_000084.2,NM_001127898.1,NM_001127899.1	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	535/747,605/817,605/817	49854843	1,10562	2203	4300	6503	49741583	SO:0001819	synonymous_variant	1184	exon13			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1605C>T	X.37:g.49854843C>T			49741583	NM_001127899	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.507	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
AKAP4	8852	broad.mit.edu	37	X	49957288	49957288	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:49957288C>T	ENST00000376056.2	-	5	2199	c.2049G>A	c.(2047-2049)gcG>gcA	p.A683A	AKAP4_ENST00000376064.3_Silent_p.A683A|AKAP4_ENST00000376058.2_Silent_p.A309A|AKAP4_ENST00000358526.2_Silent_p.A692A|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4									p.A692A(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTGCCCGTTCGCTTGCTTCA	0.473																																					p.A692A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2076A	X						.						114.0	88.0	97.0					X																	49957288		2203	4300	6503	49844028	SO:0001819	synonymous_variant	8852	exon5			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2049G>A	X.37:g.49957288C>T			49844028	NM_003886		Silent	SNP	ENST00000376056.2	37	CCDS14330.1																																																																																				0.473	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
CCNB3	85417	broad.mit.edu	37	X	50052384	50052384	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:50052384G>T	ENST00000376042.1	+	6	1513	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E405D			Q8WWL7	CCNB3_HUMAN	cyclin B3	405					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.E405D(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGCAGGAGATCACCTCTG	0.478																																					p.E405D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1215T	X						.						79.0	71.0	74.0					X																	50052384		2203	4300	6503	50069124	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1215G>T	X.37:g.50052384G>T	ENSP00000365210:p.Glu405Asp		50069124	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984093	0.18889	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.36520	1.25;1.25	3.63	-4.18	0.03846	.	5.142410	0.00664	N	0.000610	T	0.11793	0.0287	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07986	-1.0744	9	.	.	.	.	1.145	0.01773	0.3848:0.2693:0.2082:0.1377	.	405	Q8WWL7	CCNB3_HUMAN	D	405	ENSP00000365210:E405D;ENSP00000276014:E405D	.	E	+	3	2	CCNB3	50069124	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.095000	0.15127	-1.356000	0.02183	-1.037000	0.02385	GAG		0.478	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
CCNB3	85417	broad.mit.edu	37	X	50052743	50052743	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:50052743C>T	ENST00000376042.1	+	6	1872	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P525L			Q8WWL7	CCNB3_HUMAN	cyclin B3	525					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.P525L(4)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGCCACTGCCCTTTAAAGAA	0.413																																					p.P525L												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C1574T	X						.						36.0	34.0	35.0					X																	50052743		2203	4300	6503	50069483	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1574C>T	X.37:g.50052743C>T	ENSP00000365210:p.Pro525Leu		50069483	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880561	0.17467	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.22945	1.93;1.93	3.19	1.35	0.21983	.	433.910000	0.00166	N	0.000000	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.17018	-1.0383	9	.	.	.	.	3.3851	0.07269	0.2514:0.6055:0.0:0.1431	.	525	Q8WWL7	CCNB3_HUMAN	L	525	ENSP00000365210:P525L;ENSP00000276014:P525L	.	P	+	2	0	CCNB3	50069483	0.000000	0.05858	0.009000	0.14445	0.061000	0.15899	-0.214000	0.09292	0.237000	0.21200	-0.213000	0.12676	CCC		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
DGKK	139189	broad.mit.edu	37	X	50121639	50121639	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:50121639G>T	ENST00000376025.2	-	0	2972							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I767I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGAACCAAAGATTGCCACCA	0.542																																					p.I971I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2913A	X						.						105.0	96.0	99.0					X																	50121639		2075	4181	6256	50138379			139189	exon21			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121639G>T			50138379	NM_001013742	B2RP91	Silent	SNP	ENST00000376025.2	37																																																																																					0.542	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
TSPYL2	64061	broad.mit.edu	37	X	53114424	53114424	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:53114424C>A	ENST00000375442.4	+	5	1291	c.1159C>A	c.(1159-1161)Ctg>Atg	p.L387M		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	387					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)	p.L387M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CAAGAATGATCTGTGGGTTAA	0.453																																					p.L387M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159A	X						.						105.0	93.0	97.0					X																	53114424		2203	4300	6503	53131149	SO:0001583	missense	64061	exon5			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1159C>A	X.37:g.53114424C>A	ENSP00000364591:p.Leu387Met		53131149	NM_022117	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	ENST00000375442.4	37	CCDS14350.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035313	0.35893	.	.	ENSG00000184205	ENST00000375442	T	0.41065	1.01	3.33	1.54	0.23209	.	0.000000	0.31976	N	0.006778	T	0.56543	0.1992	M	0.74467	2.265	0.47153	D	0.999338	D	0.89917	1.0	D	0.91635	0.999	T	0.53308	-0.8457	10	0.59425	D	0.04	-10.9848	4.8909	0.13726	0.0:0.7012:0.0:0.2988	.	387	Q9H2G4	TSYL2_HUMAN	M	387	ENSP00000364591:L387M	ENSP00000364591:L387M	L	+	1	2	TSPYL2	53131149	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	0.841000	0.27613	0.284000	0.22305	0.513000	0.50165	CTG		0.453	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117	
RIBC1	158787	broad.mit.edu	37	X	53457715	53457715	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:53457715G>A	ENST00000375327.3	+	7	1188	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank|RIBC1_ENST00000414955.2_Silent_p.Q230Q	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	345								p.Q345Q(1)		lung(2)	2						TCAACCAGCAGCTGGCTAATG	0.532																																					p.Q345Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1035A	X						.						66.0	51.0	56.0					X																	53457715		2203	4300	6503	53474440	SO:0001819	synonymous_variant	158787	exon7			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.1035G>A	X.37:g.53457715G>A			53474440	NM_001031745	B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	ENST00000375327.3	37	CCDS35299.1																																																																																				0.532	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968	
HUWE1	10075	broad.mit.edu	37	X	53561010	53561010	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:53561010C>T	ENST00000342160.3	-	82	13437	c.12980G>A	c.(12979-12981)cGa>cAa	p.R4327Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4327Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4327	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R4217Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTCATCTCGATGGATCTG	0.493																																					p.R4327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12980A	X						.						157.0	119.0	132.0					X																	53561010		2203	4300	6503	53577735	SO:0001583	missense	10075	exon83			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12980G>A	X.37:g.53561010C>T	ENSP00000340648:p.Arg4327Gln		53577735	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837361	0.50951	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.60548	0.18;0.18	5.42	5.42	0.78866	HECT (4);	0.000000	0.64402	D	0.000001	T	0.77253	0.4103	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.64506	0.926;0.879	T	0.81143	-0.1067	10	0.87932	D	0	.	17.2866	0.87143	0.0:1.0:0.0:0.0	.	4327;4311	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	4327	ENSP00000340648:R4327Q;ENSP00000262854:R4327Q	ENSP00000262854:R4327Q	R	-	2	0	HUWE1	53577735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.959000	0.76031	2.436000	0.82500	0.529000	0.55759	CGA		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
HUWE1	10075	broad.mit.edu	37	X	53574917	53574917	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:53574917C>A	ENST00000342160.3	-	67	10810	c.10353G>T	c.(10351-10353)gaG>gaT	p.E3451D	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3451D|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3451					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E3341D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAGGAGTTTCTCAGTTAAGA	0.537																																					p.E3451D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10353T	X						.						61.0	51.0	54.0					X																	53574917		2203	4300	6503	53591642	SO:0001583	missense	10075	exon68			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10353G>T	X.37:g.53574917C>A	ENSP00000340648:p.Glu3451Asp		53591642	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.00|13.00	2.105161|2.105161	0.37145|0.37145	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.20881|.	2.04;2.04|.	5.18|5.18	4.31|4.31	0.51392|0.51392	.|.	0.440632|0.440632	0.23046|0.23046	N|N	0.052546|0.052546	T|.	0.37320|.	0.0999|.	N|N	0.08118|0.08118	0|0	0.47862|0.47862	D|D	0.999538|0.999538	P;D|.	0.56035|.	0.956;0.974|.	P;D|.	0.67725|.	0.899;0.953|.	T|.	0.36212|.	-0.9757|.	10|.	0.07644|0.72032	T|D	0.81|0.01	.|.	8.4734|8.4734	0.32999|0.32999	0.0:0.8127:0.0:0.1873|0.0:0.8127:0.0:0.1873	.|.	3451;3435|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|X	3451|2485;289	ENSP00000340648:E3451D;ENSP00000262854:E3451D|.	ENSP00000262854:E3451D|ENSP00000403236:E289X	E|E	-|-	3|1	2|0	HUWE1|HUWE1	53591642|53591642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.745000|0.745000	0.26259|0.26259	0.974000|0.974000	0.38366|0.38366	0.429000|0.429000	0.28392|0.28392	GAG|GAA		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
WNK3	65267	broad.mit.edu	37	X	54263616	54263616	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:54263616C>T	ENST00000375159.2	-	19	4382	c.4383G>A	c.(4381-4383)gaG>gaA	p.E1461E	WNK3_ENST00000354646.2_Silent_p.E1461E|WNK3_ENST00000375169.3_Silent_p.E1414E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1461					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1461E(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAGTCAATATCTCTCTCTCTT	0.453																																					p.E1414E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4242A	X						.						98.0	85.0	89.0					X																	54263616		2203	4300	6503	54280341	SO:0001819	synonymous_variant	65267	exon20			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4383G>A	X.37:g.54263616C>T			54280341	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	CCDS14357.1																																																																																				0.453	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
WNK3	65267	broad.mit.edu	37	X	54278091	54278091	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:54278091C>A	ENST00000375159.2	-	13	2396	c.2397G>T	c.(2395-2397)gaG>gaT	p.E799D	WNK3_ENST00000354646.2_Missense_Mutation_p.E799D|WNK3_ENST00000375169.3_Missense_Mutation_p.E799D			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	799					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E799D(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTTTTCTTTCTCACTTTCCA	0.358																																					p.E799D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2397T	X						.						71.0	68.0	69.0					X																	54278091		2203	4300	6503	54294816	SO:0001583	missense	65267	exon14			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2397G>T	X.37:g.54278091C>A	ENSP00000364301:p.Glu799Asp		54294816	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461462	0.63513	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.35605	1.3;1.3;1.3	5.31	2.46	0.29980	.	0.000000	0.56097	D	0.000021	T	0.42832	0.1220	L	0.32530	0.975	0.27988	N	0.935772	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.939	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.5176	7.6797	0.28507	0.0:0.6229:0.0:0.3771	.	799;799	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	D	799	ENSP00000364312:E799D;ENSP00000346667:E799D;ENSP00000364301:E799D	ENSP00000346667:E799D	E	-	3	2	WNK3	54294816	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	0.924000	0.28777	0.405000	0.25532	0.422000	0.28245	GAG		0.358	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
FGD1	2245	broad.mit.edu	37	X	54481894	54481894	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:54481894C>T	ENST00000375135.3	-	12	2735	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	668	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E668K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCCTGGAGCTCGAGGGAGCGC	0.552																																					p.E668K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2002A	X						.						110.0	80.0	91.0					X																	54481894		2203	4300	6503	54498619	SO:0001583	missense	2245	exon12			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2002G>A	X.37:g.54481894C>T	ENSP00000364277:p.Glu668Lys		54498619	NM_004463	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756829	0.89843	.	.	ENSG00000102302	ENST00000375135	D	0.88431	-2.38	5.01	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.51477	D	0.000081	D	0.94905	0.8353	M	0.86740	2.835	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.74674	0.981;0.984	D	0.95643	0.8700	10	0.72032	D	0.01	-7.8323	16.1456	0.81563	0.0:1.0:0.0:0.0	.	426;668	B4DS99;P98174	.;FGD1_HUMAN	K	668	ENSP00000364277:E668K	ENSP00000364277:E668K	E	-	1	0	FGD1	54498619	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.172000	0.77604	2.328000	0.79073	0.600000	0.82982	GAG		0.552	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
GNL3L	54552	broad.mit.edu	37	X	54559005	54559005	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:54559005G>T	ENST00000336470.4	+	2	145	c.6G>T	c.(4-6)atG>atT	p.M2I	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.M2I	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	2					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.M2I(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TCATCATGATGAAACTTAGAC	0.388																																					p.M2I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6T	X						.						160.0	137.0	145.0					X																	54559005		2203	4300	6503	54575730	SO:0001583	missense	54552	exon2			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.6G>T	X.37:g.54559005G>T	ENSP00000338573:p.Met2Ile		54575730	NM_019067		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	8.330	0.826334	0.16749	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.16743	2.32;2.32	3.39	3.39	0.38822	.	0.607526	0.14835	N	0.295615	T	0.11067	0.0270	N	0.19112	0.55	0.27457	N	0.953263	B	0.10296	0.003	B	0.08055	0.003	T	0.10154	-1.0642	10	0.44086	T	0.13	-1.5884	9.3943	0.38392	0.0:0.0:1.0:0.0	.	2	Q9NVN8	GNL3L_HUMAN	I	2	ENSP00000338573:M2I;ENSP00000354091:M2I	ENSP00000338573:M2I	M	+	3	0	GNL3L	54575730	1.000000	0.71417	0.986000	0.45419	0.640000	0.38277	3.817000	0.55668	1.957000	0.56846	0.600000	0.82982	ATG		0.388	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	
ALAS2	212	broad.mit.edu	37	X	55043972	55043972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:55043972G>T	ENST00000330807.5	-	7	1087	c.950C>A	c.(949-951)tCt>tAt	p.S317Y	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.S304Y|ALAS2_ENST00000335854.4_Missense_Mutation_p.S280Y	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	317					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.S317Y(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTAGGGTTAGACTTCTCTAG	0.433																																					p.S280Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839A	X						.						248.0	201.0	217.0					X																	55043972		2203	4300	6503	55060697	SO:0001583	missense	212	exon6				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.950C>A	X.37:g.55043972G>T	ENSP00000332369:p.Ser317Tyr		55060697	NM_001037967	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608157	0.14002	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95342	-3.68;-3.68;-3.68	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.164661	0.56097	D	0.000035	D	0.92166	0.7516	L	0.45352	1.415	0.47341	D	0.999397	B;B;B	0.27498	0.169;0.169;0.18	B;B;B	0.38921	0.285;0.285;0.285	D	0.87353	0.2339	10	0.02654	T	1	-24.0967	16.8746	0.86048	0.0:0.0:1.0:0.0	.	280;304;317	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Y	317;304;280	ENSP00000332369:S317Y;ENSP00000379501:S304Y;ENSP00000337131:S280Y	ENSP00000332369:S317Y	S	-	2	0	ALAS2	55060697	1.000000	0.71417	0.052000	0.19188	0.823000	0.46562	7.912000	0.87465	2.333000	0.79357	0.513000	0.50165	TCT		0.433	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032	
USP51	158880	broad.mit.edu	37	X	55513912	55513912	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:55513912G>T	ENST00000500968.3	-	2	1543	c.1461C>A	c.(1459-1461)atC>atA	p.I487I	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.I487I(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CACCTGTAAAGATTTGGTCTA	0.468																																					p.I487I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1461A	X						.						141.0	100.0	114.0					X																	55513912		2203	4300	6503	55530637	SO:0001819	synonymous_variant	158880	exon2			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1461C>A	X.37:g.55513912G>T			55530637	NM_201286	Q8IWJ8	Silent	SNP	ENST00000500968.3	37	CCDS14370.1																																																																																				0.468	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
USP51	158880	broad.mit.edu	37	X	55513974	55513974	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:55513974C>A	ENST00000500968.3	-	2	1481	c.1399G>T	c.(1399-1401)Gat>Tat	p.D467Y	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	467	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D467Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CCACTATCATCTTTGCTGTGT	0.463																																					p.D467Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399T	X						.						139.0	109.0	119.0					X																	55513974		2203	4300	6503	55530699	SO:0001583	missense	158880	exon2			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1399G>T	X.37:g.55513974C>A	ENSP00000423333:p.Asp467Tyr		55530699	NM_201286	Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.101680	0.56183	.	.	ENSG00000247746	ENST00000500968	T	0.31769	1.48	3.04	3.04	0.35103	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.344332	0.29293	U	0.012573	T	0.44414	0.1292	M	0.68952	2.095	0.43936	D	0.996597	D	0.58970	0.984	P	0.56163	0.793	T	0.49194	-0.8965	10	0.72032	D	0.01	.	11.3014	0.49309	0.0:1.0:0.0:0.0	.	467	Q70EK9	UBP51_HUMAN	Y	467	ENSP00000423333:D467Y	ENSP00000423333:D467Y	D	-	1	0	USP51	55530699	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.668000	0.74457	1.796000	0.52611	0.508000	0.49915	GAT		0.463	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
ZXDA	7789	broad.mit.edu	37	X	57935660	57935660	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:57935660T>G	ENST00000358697.4	-	1	1407	c.1195A>C	c.(1195-1197)Aca>Cca	p.T399P		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	399	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T399P(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GTGATAAATGTCTTCTTGCAG	0.557																																					p.T399P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1195C	X						.						125.0	113.0	117.0					X																	57935660		2203	4300	6503	57952385	SO:0001583	missense	7789	exon1			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1195A>C	X.37:g.57935660T>G	ENSP00000351530:p.Thr399Pro		57952385	NM_007156	Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.723543	0.48728	.	.	ENSG00000198205	ENST00000358697	T	0.36340	1.26	3.45	3.45	0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.110563	0.64402	D	0.000010	T	0.45637	0.1352	L	0.44542	1.39	0.53688	D	0.999971	D	0.71674	0.998	D	0.67725	0.953	T	0.29941	-0.9995	9	.	.	.	.	9.4267	0.38583	0.0:0.0:0.0:1.0	.	399	P98168	ZXDA_HUMAN	P	399	ENSP00000351530:T399P	.	T	-	1	0	ZXDA	57952385	1.000000	0.71417	0.983000	0.44433	0.956000	0.61745	2.665000	0.46791	1.580000	0.49851	0.339000	0.21740	ACA		0.557	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
ARHGEF9	23229	broad.mit.edu	37	X	62885871	62885871	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:62885871C>T	ENST00000253401.6	-	7	1751	c.951G>A	c.(949-951)tcG>tcA	p.S317S	ARHGEF9_ENST00000374878.1_Silent_p.S315S|ARHGEF9_ENST00000374872.1_Silent_p.S296S|ARHGEF9_ENST00000374870.4_Silent_p.S215S|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000437457.2_Silent_p.S264S	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	317					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S315S(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGATCAGCTCCGAGCTCCTGT	0.597																																					p.S215S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G645A	X						.						134.0	104.0	114.0					X																	62885871		2203	4300	6503	62802596	SO:0001819	synonymous_variant	23229	exon6			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.951G>A	X.37:g.62885871C>T			62802596	NM_001173480	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	CCDS35315.1																																																																																				0.597	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
AMER1	139285	broad.mit.edu	37	X	63411708	63411708	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63411708G>A	ENST00000330258.3	-	2	1731	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L	AMER1_ENST00000403336.1_Silent_p.L487L|AMER1_ENST00000374869.3_Silent_p.L487L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	487					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.L487L(2)									ACAAGCCCCAGGGCCTCACCT	0.517																																					p.L487L												.	.	69	Whole gene deletion(67)|Substitution - coding silent(2)	kidney(65)|large_intestine(3)|ovary(1)	c.C1459T	X						.						63.0	51.0	55.0					X																	63411708		2203	4300	6503	63328433	SO:0001819	synonymous_variant	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1459C>T	X.37:g.63411708G>A			63328433	NM_152424	A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																				0.517	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AMER1	139285	broad.mit.edu	37	X	63411948	63411948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63411948C>A	ENST00000330258.3	-	2	1491	c.1219G>T	c.(1219-1221)Gaa>Taa	p.E407*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.E407*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.E407*	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	407	Glu-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E407*(2)									CACAGATATTCTAAGTCATCA	0.502																																					p.E407X												.	.	69	Whole gene deletion(67)|Substitution - Nonsense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.G1219T	X						.						239.0	225.0	230.0					X																	63411948		2203	4300	6503	63328673	SO:0001587	stop_gained	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1219G>T	X.37:g.63411948C>A	ENSP00000329117:p.Glu407*		63328673	NM_152424	A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	39	7.298972	0.98196	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	.	.	.	5.17	5.17	0.71159	.	0.213952	0.33110	N	0.005263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-8.7807	8.6586	0.34079	0.0:0.8975:0.0:0.1025	.	.	.	.	X	407	.	ENSP00000329117:E407X	E	-	1	0	FAM123B	63328673	0.210000	0.23517	1.000000	0.80357	0.913000	0.54294	1.491000	0.35583	2.551000	0.86045	0.600000	0.82982	GAA		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AMER1	139285	broad.mit.edu	37	X	63412493	63412493	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63412493C>A	ENST00000330258.3	-	2	946	c.674G>T	c.(673-675)aGa>aTa	p.R225I	AMER1_ENST00000403336.1_Missense_Mutation_p.R225I|AMER1_ENST00000374869.3_Missense_Mutation_p.R225I	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	225					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.R225I(2)									ATTTTCCTTTCTAGGGGCTTG	0.567																																					p.R225I												.	.	69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.G674T	X						.						64.0	63.0	63.0					X																	63412493		2196	4290	6486	63329218	SO:0001583	missense	139285	exon2			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.674G>T	X.37:g.63412493C>A	ENSP00000329117:p.Arg225Ile		63329218	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	2.976	-0.211449	0.06140	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19938	2.11;2.11;2.11	5.13	-5.29	0.02747	.	1.668050	0.02405	N	0.081017	T	0.17831	0.0428	M	0.63428	1.95	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.17289	-1.0374	10	0.32370	T	0.25	0.7982	1.0744	0.01629	0.3802:0.2181:0.0932:0.3085	.	225	Q5JTC6	F123B_HUMAN	I	225	ENSP00000364003:R225I;ENSP00000329117:R225I;ENSP00000384722:R225I	ENSP00000329117:R225I	R	-	2	0	FAM123B	63329218	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	0.279000	0.18771	-1.140000	0.02877	-0.956000	0.02647	AGA		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
MTMR8	55613	broad.mit.edu	37	X	63488679	63488679	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63488679C>T	ENST00000374852.3	-	14	1920	c.1853G>A	c.(1852-1854)aGc>aAc	p.S618N	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	618						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.S618N(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGCCCTAAGGCTGCCCACAAT	0.537																																					p.S618N												.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	large_intestine(2)|ovary(1)	c.G1853A	X						.						82.0	63.0	70.0					X																	63488679		2203	4300	6503	63405404	SO:0001583	missense	55613	exon14			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1853G>A	X.37:g.63488679C>T	ENSP00000363985:p.Ser618Asn		63405404	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	8.122	0.781089	0.16120	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.94687	-3.49	2.5	-0.491	0.12045	.	0.439792	0.17497	U	0.172153	D	0.82481	0.5046	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.70321	-0.4904	10	0.30078	T	0.28	.	2.5766	0.04807	0.2278:0.309:0.0:0.4632	.	618	Q96EF0	MTMR8_HUMAN	N	618;504	ENSP00000363985:S618N	ENSP00000247400:S504N	S	-	2	0	MTMR8	63405404	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.688000	0.05150	-0.251000	0.09542	0.436000	0.28706	AGC		0.537	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
MTMR8	55613	broad.mit.edu	37	X	63563587	63563587	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63563587T>G	ENST00000374852.3	-	8	946	c.879A>C	c.(877-879)aaA>aaC	p.K293N	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.K293N	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	293	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)|p.K293N(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTGTTGGAGTTTTCAATTCAC	0.373																																					p.K293N												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.A879C	X						.						52.0	43.0	46.0					X																	63563587		2203	4299	6502	63480312	SO:0001583	missense	55613	exon8			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.879A>C	X.37:g.63563587T>G	ENSP00000363985:p.Lys293Asn		63480312	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.87|15.87	2.960446|2.960446	0.53400|0.53400	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.92545|.	-3.06;-3.06|.	3.34|3.34	3.34|3.34	0.38264|0.38264	Myotubularin phosphatase domain (1);|.	0.000000|.	0.53938|.	U|.	0.000050|.	T|T	0.53916|0.53916	0.1826|0.1826	L|L	0.48642|0.48642	1.525|1.525	0.46874|0.46874	D|D	0.999236|0.999236	D;D|.	0.54772|.	0.966;0.968|.	P;P|.	0.55087|.	0.501;0.768|.	T|T	0.49826|0.49826	-0.8898|-0.8898	10|5	0.87932|.	D|.	0|.	.|.	6.2344|6.2344	0.20754|0.20754	0.0:0.127:0.0:0.873|0.0:0.127:0.0:0.873	.|.	293;293|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	N|H	293;293;179|97	ENSP00000394003:K293N;ENSP00000363985:K293N|.	ENSP00000247400:K179N|.	K|N	-|-	3|1	2|0	MTMR8|MTMR8	63480312|63480312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.566000|0.566000	0.23593|0.23593	1.360000|1.360000	0.45960|0.45960	0.417000|0.417000	0.27973|0.27973	AAA|AAC		0.373	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
MTMR8	55613	broad.mit.edu	37	X	63568625	63568625	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63568625C>G	ENST00000374852.3	-	6	714	c.647G>C	c.(646-648)tGt>tCt	p.C216S	MTMR8_ENST00000453546.1_Missense_Mutation_p.C216S	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	216	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.C216S(1)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATCATCTACACAGCGAGTGTA	0.443																																					p.C216S												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G647C	X						.						118.0	94.0	102.0					X																	63568625		2203	4300	6503	63485350	SO:0001583	missense	55613	exon6			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.647G>C	X.37:g.63568625C>G	ENSP00000363985:p.Cys216Ser		63485350	NM_017677	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	C	6.128	0.391905	0.11581	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.89485	-2.52;-2.52	2.68	0.707	0.18139	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.107747	0.37261	N	0.002168	T	0.76572	0.4006	N	0.20445	0.575	0.51767	D	0.999938	B;P	0.36909	0.0;0.573	B;B	0.38106	0.002;0.265	T	0.63541	-0.6614	10	0.20519	T	0.43	.	5.6116	0.17408	0.0:0.6504:0.2177:0.1318	.	216;216	B4DQL0;Q96EF0	.;MTMR8_HUMAN	S	216	ENSP00000394003:C216S;ENSP00000363985:C216S	ENSP00000363985:C216S	C	-	2	0	MTMR8	63485350	0.971000	0.33674	0.006000	0.13384	0.975000	0.68041	2.326000	0.43849	-0.065000	0.13021	0.506000	0.49869	TGT		0.443	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
MTMR8	55613	broad.mit.edu	37	X	63574764	63574764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63574764C>A	ENST00000374852.3	-	4	428	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MTMR8_ENST00000453546.1_Nonsense_Mutation_p.E121*	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	121						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.E121*(1)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCCCTCATCTCTTTTGAGGAT	0.388																																					p.E121X												.	.	2	Substitution - Nonsense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G361T	X						.						93.0	74.0	80.0					X																	63574764		2203	4300	6503	63491489	SO:0001587	stop_gained	55613	exon4			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.361G>T	X.37:g.63574764C>A	ENSP00000363985:p.Glu121*		63491489	NM_017677	Q5JT99|Q9NXP6	Nonsense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.226560|4.226560	0.79576|0.79576	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	.|.	.|.	.|.	2.96|2.96	1.16|1.16	0.20824|0.20824	.|.	0.380677|.	0.19703|.	U|.	0.107989|.	.|T	.|0.39118	.|0.1066	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44682	.|-0.9312	.|3	0.23302|.	T|.	0.38|.	.|.	6.0279|6.0279	0.19665|0.19665	0.0:0.6126:0.0:0.3874|0.0:0.6126:0.0:0.3874	.|.	.|.	.|.	.|.	X|I	121;121;120|37	.|.	ENSP00000247400:E120X|.	E|R	-|-	1|2	0|0	MTMR8|MTMR8	63491489|63491489	0.996000|0.996000	0.38824|0.38824	0.703000|0.703000	0.30354|0.30354	0.919000|0.919000	0.55068|0.55068	1.445000|1.445000	0.35079|0.35079	0.178000|0.178000	0.19917|0.19917	0.506000|0.506000	0.49869|0.49869	GAG|AGA		0.388	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
HEPH	9843	broad.mit.edu	37	X	65483520	65483520	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:65483520G>T	ENST00000343002.2	+	19	3898	c.3234G>T	c.(3232-3234)gaG>gaT	p.E1078D	HEPH_ENST00000441993.2_Missense_Mutation_p.E1081D|HEPH_ENST00000419594.1_Missense_Mutation_p.E889D|HEPH_ENST00000374727.3_Missense_Mutation_p.E1081D|HEPH_ENST00000519389.1_Missense_Mutation_p.E1132D|HEPH_ENST00000336279.5_Missense_Mutation_p.E811D			Q9BQS7	HEPH_HUMAN	hephaestin	1078	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.E1078D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCACCAAAGAGACTGAAAAAG	0.448																																					p.E1081D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3243T	X						.						214.0	149.0	171.0					X																	65483520		2203	4300	6503	65400245	SO:0001583	missense	9843	exon20			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3234G>T	X.37:g.65483520G>T	ENSP00000343939:p.Glu1078Asp		65400245	NM_001130860	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423305	0.04734	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99264	-5.65;-5.63;-5.63;-5.63;-5.64;-5.63	3.95	3.09	0.35607	.	0.381500	0.24983	N	0.034057	D	0.95865	0.8654	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.21452	0.0;0.056;0.0	B;B;B	0.15484	0.001;0.013;0.0	D	0.89927	0.4063	10	0.13108	T	0.6	.	6.7121	0.23282	0.1299:0.0:0.8701:0.0	.	1132;889;1078	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	D	1132;1081;811;1081;889;1078	ENSP00000430620:E1132D;ENSP00000363859:E1081D;ENSP00000337418:E811D;ENSP00000411687:E1081D;ENSP00000413211:E889D;ENSP00000343939:E1078D	ENSP00000337418:E811D	E	+	3	2	HEPH	65400245	0.940000	0.31905	0.320000	0.25306	0.169000	0.22640	0.383000	0.20651	1.028000	0.39785	0.600000	0.82982	GAG		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
HEPH	9843	broad.mit.edu	37	X	65486346	65486346	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:65486346G>T	ENST00000343002.2	+	20	3973	c.3309G>T	c.(3307-3309)aaG>aaT	p.K1103N	HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N|HEPH_ENST00000519389.1_Missense_Mutation_p.K1157N|HEPH_ENST00000336279.5_Missense_Mutation_p.K836N			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.K1103N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCCCCATAAAGAATGTTGAGA	0.483																																					p.K1105N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3315T	X						.						307.0	207.0	241.0					X																	65486346		2203	4300	6503	65403071	SO:0001583	missense	9843	exon21			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3309G>T	X.37:g.65486346G>T	ENSP00000343939:p.Lys1103Asn		65403071	NM_001130860	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	.	16.77	3.213853	0.58452	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99298	-5.71;-5.7;-5.7;-5.66;-5.71;-5.7	5.11	2.34	0.29019	.	0.364044	0.23474	N	0.047797	D	0.97210	0.9088	L	0.29908	0.895	0.09310	N	1	B;D;B	0.56035	0.201;0.974;0.18	B;P;B	0.49752	0.055;0.621;0.056	D	0.93950	0.7231	10	0.13470	T	0.59	.	7.8552	0.29478	0.2813:0.0:0.7187:0.0	.	1157;914;1103	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	1157;1106;836;1105;914;1103	ENSP00000430620:K1157N;ENSP00000363859:K1106N;ENSP00000337418:K836N;ENSP00000411687:K1105N;ENSP00000413211:K914N;ENSP00000343939:K1103N	ENSP00000337418:K836N	K	+	3	2	HEPH	65403071	0.033000	0.19621	0.051000	0.19133	0.982000	0.71751	1.140000	0.31516	0.557000	0.29117	0.600000	0.82982	AAG		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
PJA1	64219	broad.mit.edu	37	X	68381193	68381193	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:68381193C>T	ENST00000361478.1	-	2	2266	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	PJA1_ENST00000374583.1_Missense_Mutation_p.G630D|PJA1_ENST00000374584.3_Missense_Mutation_p.G442D|PJA1_ENST00000374571.4_Missense_Mutation_p.G575D|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	630					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G630D(1)|p.G442D(1)|p.G442V(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGGGCAGGTGCCTGACTTCTG	0.537																																					p.G575D												.	.	3	Substitution - Missense(3)	large_intestine(2)|ovary(1)	c.G1724A	X						.						51.0	41.0	44.0					X																	68381193		2203	4300	6503	68297918	SO:0001583	missense	64219	exon2			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1889G>A	X.37:g.68381193C>T	ENSP00000355014:p.Gly630Asp		68297918	NM_001032396	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950458	0.34377	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	3.68	3.68	0.42216	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.132235	0.33127	U	0.005257	T	0.66117	0.2757	N	0.12637	0.245	0.46678	D	0.999158	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.71407	-0.4602	10	0.62326	D	0.03	-12.9359	12.5562	0.56254	0.0:1.0:0.0:0.0	.	630;442	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	D	545;442;630;630;575	ENSP00000363712:G442D;ENSP00000363711:G630D;ENSP00000355014:G630D;ENSP00000363699:G575D	ENSP00000355014:G630D	G	-	2	0	PJA1	68297918	1.000000	0.71417	0.995000	0.50966	0.011000	0.07611	4.683000	0.61679	2.115000	0.64714	0.544000	0.68410	GGC		0.537	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119	
PJA1	64219	broad.mit.edu	37	X	68382762	68382762	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:68382762G>A	ENST00000361478.1	-	2	697	c.320C>T	c.(319-321)tCg>tTg	p.S107L	PJA1_ENST00000374583.1_Missense_Mutation_p.S107L|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.S52L|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	107					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S107L(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTGCTACCCGAAGCTCTGTA	0.522																																					p.S52L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155T	X						.						85.0	77.0	80.0					X																	68382762		2203	4300	6503	68299487	SO:0001583	missense	64219	exon2			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.320C>T	X.37:g.68382762G>A	ENSP00000355014:p.Ser107Leu		68299487	NM_001032396	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308994	0.23821	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14766	2.48;2.48;2.48	3.25	2.38	0.29361	.	0.761458	0.10268	N	0.695152	T	0.11153	0.0272	L	0.46157	1.445	0.18873	N	0.999983	B	0.12013	0.005	B	0.04013	0.001	T	0.38779	-0.9645	10	0.17832	T	0.49	-3.6457	5.658	0.17652	0.1538:0.0:0.8462:0.0	.	107	Q8NG27	PJA1_HUMAN	L	52;107;107;52	ENSP00000363711:S107L;ENSP00000355014:S107L;ENSP00000363699:S52L	ENSP00000355014:S107L	S	-	2	0	PJA1	68299487	0.501000	0.26099	0.555000	0.28281	0.928000	0.56348	0.976000	0.29462	0.789000	0.33779	0.534000	0.68092	TCG		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119	
EDA	1896	broad.mit.edu	37	X	68836510	68836510	+	Nonsense_Mutation	SNP	G	G	T	rs369801319		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:68836510G>T	ENST00000374552.4	+	1	600	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	EDA_ENST00000525810.1_Nonsense_Mutation_p.E120*|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Nonsense_Mutation_p.E120*|EDA_ENST00000338901.3_Nonsense_Mutation_p.E120*|EDA_ENST00000527388.1_Nonsense_Mutation_p.E120*|EDA_ENST00000524573.1_Nonsense_Mutation_p.E120*	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	120					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E120*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GGAACCGGGAGAAGCCGCACT	0.687																																					p.E120X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G358T	X						.						32.0	36.0	34.0					X																	68836510		2203	4298	6501	68753235	SO:0001587	stop_gained	1896	exon1			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.358G>T	X.37:g.68836510G>T	ENSP00000363680:p.Glu120*		68753235	NM_001005609	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Nonsense_Mutation	SNP	ENST00000374552.4	37	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	38	6.930571	0.97944	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	.	.	.	4.97	4.97	0.65823	.	0.271711	0.30949	N	0.008543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.5556	12.243	0.54553	0.0:0.0:1.0:0.0	.	.	.	.	X	120	.	ENSP00000340611:E120X	E	+	1	0	EDA	68753235	0.996000	0.38824	0.365000	0.25901	0.895000	0.52256	4.615000	0.61190	2.279000	0.76181	0.600000	0.82982	GAA		0.687	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399	
AWAT2	158835	broad.mit.edu	37	X	69261787	69261787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69261787C>A	ENST00000276101.3	-	7	878	c.873G>T	c.(871-873)aaG>aaT	p.K291N		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	291					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.K291N(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATTCTCAATCTTGGGCATTG	0.478																																					p.K291N	NSCLC(80;1334 1436 9350 24214 26427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G873T	X						.						128.0	98.0	108.0					X																	69261787		2203	4300	6503	69178512	SO:0001583	missense	158835	exon7			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.873G>T	X.37:g.69261787C>A	ENSP00000421172:p.Lys291Asn		69178512	NM_001002254	Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744846	0.49151	.	.	ENSG00000147160	ENST00000276101	T	0.20069	2.1	4.83	3.97	0.46021	.	0.071454	0.56097	D	0.000022	T	0.33702	0.0872	M	0.89030	3	0.51012	D	0.999909	P	0.41498	0.752	B	0.42625	0.393	T	0.30765	-0.9967	10	0.66056	D	0.02	.	9.9007	0.41346	0.0:0.8984:0.0:0.1016	.	291	Q6E213	AWAT2_HUMAN	N	291	ENSP00000421172:K291N	ENSP00000421172:K291N	K	-	3	2	AWAT2	69178512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.862000	0.39448	1.163000	0.42636	0.600000	0.82982	AAG		0.478	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
AWAT2	158835	broad.mit.edu	37	X	69263346	69263346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69263346C>A	ENST00000276101.3	-	4	459	c.454G>T	c.(454-456)Gaa>Taa	p.E152*		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	152					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.E152*(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATTACATATTCTCTGAGGAAA	0.493																																					p.E152X	NSCLC(80;1334 1436 9350 24214 26427)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G454T	X						.						36.0	32.0	33.0					X																	69263346		2203	4299	6502	69180071	SO:0001587	stop_gained	158835	exon4			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.454G>T	X.37:g.69263346C>A	ENSP00000421172:p.Glu152*		69180071	NM_001002254	Q6IEE3|Q6P437	Nonsense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908906	0.52439	.	.	ENSG00000147160	ENST00000276101	.	.	.	5.02	5.02	0.67125	.	0.593663	0.16144	N	0.227580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5334	0.67942	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000421172:E152X	E	-	1	0	AWAT2	69180071	1.000000	0.71417	0.408000	0.26446	0.031000	0.12232	5.401000	0.66326	2.307000	0.77673	0.513000	0.50165	GAA		0.493	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
OTUD6A	139562	broad.mit.edu	37	X	69282896	69282896	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69282896C>T	ENST00000338352.2	+	1	556	c.522C>T	c.(520-522)acC>acT	p.T174T		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	174	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.T174T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GCTGCCGCACCGCCAGCTACA	0.602													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14125	0.0		0.0	False		,,,				2504	0.0				p.T174T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	X						.						54.0	40.0	45.0					X																	69282896		2203	4300	6503	69199621	SO:0001819	synonymous_variant	139562	exon1			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.522C>T	X.37:g.69282896C>T			69199621	NM_207320	B2RPB7	Silent	SNP	ENST00000338352.2	37	CCDS14395.1																																																																																				0.602	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320	
IGBP1	3476	broad.mit.edu	37	X	69353825	69353825	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69353825C>T	ENST00000342206.6	+	1	527	c.28C>T	c.(28-30)Ccg>Tcg	p.P10S	IGBP1_ENST00000356413.4_Missense_Mutation_p.P10S			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	10					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P10S(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GTTACAGCTGCCGCGGCTCCC	0.547											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P10S	NSCLC(167;1189 1558 6576 8216 30387 37980 41450)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28T	X						.						25.0	23.0	24.0					X																	69353825		2203	4300	6503	69270550	SO:0001583	missense	3476	exon2			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.28C>T	X.37:g.69353825C>T	ENSP00000363661:p.Pro10Ser	1114	69270550	NM_001551	Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376810	0.24857	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.41065	1.01;1.01	4.75	3.87	0.44632	.	0.164239	0.53938	D	0.000041	T	0.41119	0.1145	M	0.76574	2.34	0.39266	D	0.964293	B	0.33345	0.409	B	0.33799	0.17	T	0.44636	-0.9315	10	0.56958	D	0.05	.	7.1915	0.25828	0.1945:0.6206:0.1848:0.0	.	10	P78318	IGBP1_HUMAN	S	10	ENSP00000363661:P10S;ENSP00000348784:P10S	ENSP00000363661:P10S	P	+	1	0	IGBP1	69270550	0.880000	0.30214	0.616000	0.29078	0.238000	0.25445	1.907000	0.39897	1.098000	0.41479	0.600000	0.82982	CCG		0.547	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1		
AWAT1	158833	broad.mit.edu	37	X	69455608	69455608	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69455608C>A	ENST00000374521.3	+	2	160	c.119C>A	c.(118-120)tCc>tAc	p.S40Y	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	40					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)	p.S120Y(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGTTTACATCCTTGTGGCCG	0.498																																					p.S40Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119A	X						.						311.0	231.0	258.0					X																	69455608		2203	4300	6503	69372333	SO:0001583	missense	158833	exon2			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.119C>A	X.37:g.69455608C>A	ENSP00000363645:p.Ser40Tyr		69372333	NM_001013579	Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	c	9.817	1.184780	0.21870	.	.	ENSG00000204195	ENST00000374521	T	0.14391	2.51	5.03	2.1	0.27182	.	0.923652	0.09145	N	0.842354	T	0.14356	0.0347	L	0.54323	1.7	0.09310	N	1	P	0.35155	0.487	B	0.34536	0.185	T	0.22487	-1.0215	10	0.06625	T	0.88	-1.181	14.9996	0.71462	0.0:0.4495:0.5505:0.0	.	40	Q58HT5	AWAT1_HUMAN	Y	40	ENSP00000363645:S40Y	ENSP00000363645:S40Y	S	+	2	0	AWAT1	69372333	0.000000	0.05858	0.037000	0.18230	0.068000	0.16541	-0.155000	0.10115	0.115000	0.18071	-0.231000	0.12243	TCC		0.498	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579	
DLG3	1741	broad.mit.edu	37	X	69669296	69669296	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69669296A>T	ENST00000374360.3	+	3	729	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	DLG3_ENST00000194900.4_Missense_Mutation_p.I184F|RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	166	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.I166F(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TACCAAGATTATCCCTGGTGG	0.582																																					p.I166F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496T	X						.						81.0	65.0	71.0					X																	69669296		2203	4300	6503	69586021	SO:0001583	missense	1741	exon3			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.496A>T	X.37:g.69669296A>T	ENSP00000363480:p.Ile166Phe		69586021	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895938	0.72639	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.27720	1.65;1.65	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	L	0.46885	1.475	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.30208	-0.9986	9	.	.	.	.	11.738	0.51775	1.0:0.0:0.0:0.0	.	166	Q92796	DLG3_HUMAN	F	184;166	ENSP00000194900:I184F;ENSP00000363480:I166F	.	I	+	1	0	DLG3	69586021	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.661000	0.91125	1.555000	0.49500	0.356000	0.21956	ATC		0.582	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
DLG3	1741	broad.mit.edu	37	X	69712393	69712393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69712393C>T	ENST00000374360.3	+	12	1953	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	DLG3_ENST00000194900.4_Nonsense_Mutation_p.R592*|DLG3_ENST00000542398.1_Nonsense_Mutation_p.R91*|DLG3_ENST00000374355.3_Nonsense_Mutation_p.R237*	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	574					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.R574*(2)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGAAAGAGCTCGATTGAAAAC	0.488																																					p.R574X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1720T	X						.						68.0	61.0	63.0					X																	69712393		2203	4300	6503	69629118	SO:0001587	stop_gained	1741	exon12			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1720C>T	X.37:g.69712393C>T	ENSP00000363480:p.Arg574*		69629118	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Nonsense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403825	0.96051	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	.	.	.	5.09	4.23	0.50019	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8911	0.52630	0.0:0.9147:0.0:0.0853	.	.	.	.	X	592;574;237;91	.	.	R	+	1	2	DLG3	69629118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.456000	0.44997	1.146000	0.42352	0.600000	0.82982	CGA		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
TEX11	56159	broad.mit.edu	37	X	69749825	69749825	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69749825G>T	ENST00000395889.2	-	30	2745	c.2590C>A	c.(2590-2592)Ctc>Atc	p.L864I	TEX11_ENST00000374320.2_Missense_Mutation_p.L539I|TEX11_ENST00000374333.2_Missense_Mutation_p.L849I|TEX11_ENST00000344304.3_Missense_Mutation_p.L864I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	864					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.L849I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATCAGCCAGAGAATCTCCATT	0.438																																					p.L864I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2590A	X						.						105.0	86.0	93.0					X																	69749825		2203	4300	6503	69666550	SO:0001583	missense	56159	exon30			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2590C>A	X.37:g.69749825G>T	ENSP00000379226:p.Leu864Ile		69666550	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521667	0.44866	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.47869	1.43;1.43;0.83;1.43	4.33	1.37	0.22104	.	0.337752	0.23791	U	0.044525	T	0.38639	0.1048	L	0.43152	1.355	0.23784	N	0.996854	P;P	0.50156	0.932;0.889	P;B	0.46543	0.52;0.444	T	0.21143	-1.0254	9	.	.	.	-0.1706	5.0998	0.14753	0.2134:0.2166:0.5699:0.0	.	849;864	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	849;864;539;864	ENSP00000363453:L849I;ENSP00000379226:L864I;ENSP00000363440:L539I;ENSP00000340995:L864I	.	L	-	1	0	TEX11	69666550	1.000000	0.71417	0.636000	0.29352	0.882000	0.50991	2.082000	0.41605	-0.046000	0.13446	0.500000	0.49745	CTC		0.438	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
TEX11	56159	broad.mit.edu	37	X	69960608	69960608	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:69960608A>G	ENST00000395889.2	-	12	986	c.831T>C	c.(829-831)gaT>gaC	p.D277D	TEX11_ENST00000374333.2_Silent_p.D262D|TEX11_ENST00000344304.3_Silent_p.D277D	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	277					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.D262D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGTCATCCCAATCCAAATAAT	0.323																																					p.D277D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T831C	X						.						96.0	80.0	86.0					X																	69960608		2203	4300	6503	69877333	SO:0001819	synonymous_variant	56159	exon12			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.831T>C	X.37:g.69960608A>G			69877333	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	CCDS35323.1																																																																																				0.323	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
TEX11	56159	broad.mit.edu	37	X	70026590	70026590	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70026590C>A	ENST00000395889.2	-	10	857	c.702G>T	c.(700-702)aaG>aaT	p.K234N	TEX11_ENST00000374333.2_Missense_Mutation_p.K219N|TEX11_ENST00000344304.3_Missense_Mutation_p.K234N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	234					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.K219N(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATTTATTATTCTTCTGGGTTT	0.299																																					p.K234N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G702T	X						.						34.0	29.0	31.0					X																	70026590		2187	4270	6457	69943315	SO:0001583	missense	56159	exon10			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.702G>T	X.37:g.70026590C>A	ENSP00000379226:p.Lys234Asn		69943315	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.559756	0.00910	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.63580	-0.05;-0.05;-0.05	4.07	-2.94	0.05581	Tetratricopeptide-like helical (1);	0.479220	0.21291	N	0.076965	T	0.36880	0.0983	L	0.35414	1.06	0.09310	N	1	B;P	0.43826	0.037;0.818	B;B	0.38985	0.018;0.287	T	0.33854	-0.9852	9	.	.	.	-0.037	0.1433	0.00085	0.3046:0.2314:0.1488:0.3152	.	219;234	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	219;234;234	ENSP00000363453:K219N;ENSP00000379226:K234N;ENSP00000340995:K234N	.	K	-	3	2	TEX11	69943315	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.891000	0.04135	-0.597000	0.05813	-0.434000	0.05882	AAG		0.299	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
FOXO4	4303	broad.mit.edu	37	X	70316638	70316638	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70316638C>T	ENST00000374259.3	+	1	592	c.260C>T	c.(259-261)gCt>gTt	p.A87V	FOXO4_ENST00000341558.3_Intron|FOXO4_ENST00000466874.1_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	87					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A87V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ATCCTGGGGGCTGTAACAGGT	0.652																																					p.A87V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C260T	X						.						14.0	14.0	14.0					X																	70316638		1828	4059	5887	70233363	SO:0001583	missense	4303	exon1				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.260C>T	X.37:g.70316638C>T	ENSP00000363377:p.Ala87Val		70233363	NM_005938	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332242	0.41297	.	.	ENSG00000184481	ENST00000374259	D	0.95518	-3.73	4.83	4.83	0.62350	.	0.439725	0.19255	N	0.118838	D	0.89431	0.6713	N	0.22421	0.69	0.80722	D	1	B;B	0.26445	0.121;0.149	B;B	0.24394	0.024;0.053	D	0.85144	0.0982	10	0.16420	T	0.52	-13.6019	10.0088	0.41972	0.2015:0.7985:0.0:0.0	.	87;87	B4DTB6;P98177	.;FOXO4_HUMAN	V	87	ENSP00000363377:A87V	ENSP00000363377:A87V	A	+	2	0	FOXO4	70233363	0.647000	0.27304	0.997000	0.53966	0.577000	0.36160	0.010000	0.13242	2.130000	0.65690	0.594000	0.82650	GCT		0.652	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938	
NLGN3	54413	broad.mit.edu	37	X	70389218	70389218	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70389218C>T	ENST00000358741.3	+	8	2121	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	NLGN3_ENST00000536169.1_Silent_p.I566I|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.I586I	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	606					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.I586I(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCTTCACATCGGGCTGAAAC	0.542																																					p.I566I	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1698T	X						.						56.0	44.0	48.0					X																	70389218		2203	4300	6503	70305943	SO:0001819	synonymous_variant	54413	exon6			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1818C>T	X.37:g.70389218C>T			70305943	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	CCDS55441.1																																																																																				0.542	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
ZMYM3	9203	broad.mit.edu	37	X	70464709	70464709	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70464709G>T	ENST00000353904.2	-	19	3229	c.3042C>A	c.(3040-3042)ctC>ctA	p.L1014L	ZMYM3_ENST00000373988.1_Silent_p.L1016L|ZMYM3_ENST00000373998.1_Silent_p.L1002L|ZMYM3_ENST00000373984.3_Silent_p.L1016L|ZMYM3_ENST00000314425.5_Silent_p.L1014L|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1014					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1014L(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CACAATCAAAGAGGAAGTCTA	0.473																																					p.L1002L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3006A	X						.						62.0	48.0	53.0					X																	70464709		2203	4300	6503	70381434	SO:0001819	synonymous_variant	9203	exon19			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3042C>A	X.37:g.70464709G>T			70381434	NM_001171162	D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	CCDS14409.1																																																																																				0.473	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
TAF1	6872	broad.mit.edu	37	X	70603905	70603905	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70603905C>A	ENST00000373790.4	+	13	2089	c.2038C>A	c.(2038-2040)Ctt>Att	p.L680I	TAF1_ENST00000276072.3_Missense_Mutation_p.L701I|TAF1_ENST00000423759.1_Missense_Mutation_p.L701I|TAF1_ENST00000449580.1_Missense_Mutation_p.L680I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	680	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L680I(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGATCTTATTCTTGCAGAATA	0.438																																					p.L680I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2038A	X						.						171.0	140.0	150.0					X																	70603905		2203	4300	6503	70520630	SO:0001583	missense	6872	exon13				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2038C>A	X.37:g.70603905C>A	ENSP00000362895:p.Leu680Ile		70520630	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.525781	0.85600	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	H	0.94423	3.535	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.968	T	0.72459	-0.4287	10	0.72032	D	0.01	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	680;701	P21675;P21675-2	TAF1_HUMAN;.	I	680;680;701;701	ENSP00000362895:L680I;ENSP00000389000:L680I;ENSP00000406549:L701I;ENSP00000276072:L701I	ENSP00000276072:L701I	L	+	1	0	TAF1	70520630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.632000	0.67819	2.474000	0.83562	0.600000	0.82982	CTT		0.438	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
TAF1	6872	broad.mit.edu	37	X	70608139	70608139	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70608139G>A	ENST00000373790.4	+	16	2528	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	TAF1_ENST00000276072.3_Missense_Mutation_p.R847Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R847Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R826Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	826	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R826Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGGAGGATACGAATGGAAGAT	0.423																																					p.R826Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2477A	X						.						63.0	62.0	62.0					X																	70608139		2203	4300	6503	70524864	SO:0001583	missense	6872	exon16				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2477G>A	X.37:g.70608139G>A	ENSP00000362895:p.Arg826Gln		70524864	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.132914	0.77662	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	4.52	4.52	0.55395	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	M	0.79475	2.455	0.80722	D	1	D;P	0.57571	0.98;0.89	P;P	0.59643	0.861;0.559	T	0.34204	-0.9838	10	0.72032	D	0.01	.	16.7873	0.85577	0.0:0.0:1.0:0.0	.	826;847	P21675;P21675-2	TAF1_HUMAN;.	Q	826;826;847;847	ENSP00000362895:R826Q;ENSP00000389000:R826Q;ENSP00000406549:R847Q;ENSP00000276072:R847Q	ENSP00000276072:R847Q	R	+	2	0	TAF1	70524864	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.476000	0.97823	1.966000	0.57179	0.284000	0.19432	CGA		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
TAF1	6872	broad.mit.edu	37	X	70614068	70614068	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:70614068C>T	ENST00000373790.4	+	22	3427	c.3376C>T	c.(3376-3378)Cgg>Tgg	p.R1126W	TAF1_ENST00000276072.3_Missense_Mutation_p.R1147W|TAF1_ENST00000423759.1_Missense_Mutation_p.R1147W|TAF1_ENST00000449580.1_Missense_Mutation_p.R1126W	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1126					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1126W(2)|p.R1147W(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGAACAGGAGCGGAAGGAACT	0.443																																					p.R1126W												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C3376T	X						.						114.0	93.0	100.0					X																	70614068		2203	4300	6503	70530793	SO:0001583	missense	6872	exon22				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3376C>T	X.37:g.70614068C>T	ENSP00000362895:p.Arg1126Trp		70530793	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	18.31	3.595568	0.66219	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.24	2.34	0.29019	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.30909	-0.9962	10	0.62326	D	0.03	.	13.2791	0.60205	0.5508:0.4492:0.0:0.0	.	1126;1126;1147	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	W	1126;1126;1147;1147	ENSP00000362895:R1126W;ENSP00000389000:R1126W;ENSP00000406549:R1147W;ENSP00000276072:R1147W	ENSP00000276072:R1147W	R	+	1	2	TAF1	70530793	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.851000	0.39338	0.045000	0.15804	-0.353000	0.07706	CGG		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
NHSL2	340527	broad.mit.edu	37	X	71360158	71360158	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:71360158C>A	ENST00000373677.1	+	2	2924	c.1662C>A	c.(1660-1662)agC>agA	p.S554R	NHSL2_ENST00000540800.1_Missense_Mutation_p.S920R|NHSL2_ENST00000535692.1_Missense_Mutation_p.S554R|NHSL2_ENST00000510661.1_Missense_Mutation_p.S689R			Q5HYW2	NHSL2_HUMAN	NHS-like 2	554								p.S551R(1)|p.S920R(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTCAAGACAGCTACACGGTAG	0.542																																					p.S920R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2760A	X						.						90.0	69.0	76.0					X																	71360158		2203	4300	6503	71276883	SO:0001583	missense	340527	exon6					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1662C>A	X.37:g.71360158C>A	ENSP00000362781:p.Ser554Arg		71276883	NM_001013627	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	C	4.698	0.129698	0.08981	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46063	1.48;0.9;0.88;0.9	6.17	2.44	0.29823	.	0.528168	0.20071	N	0.099878	T	0.24122	0.0584	N	0.22421	0.69	0.27144	N	0.961589	B;B;B	0.32526	0.091;0.145;0.374	B;B;B	0.31614	0.064;0.133;0.133	T	0.13388	-1.0511	10	0.51188	T	0.08	1.9062	3.9834	0.09504	0.1315:0.5947:0.1248:0.149	.	920;689;554	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	R	920;554;689;554	ENSP00000444617:S920R;ENSP00000362781:S554R;ENSP00000424079:S689R;ENSP00000444914:S554R	ENSP00000362781:S554R	S	+	3	2	NHSL2	71276883	0.909000	0.30893	0.059000	0.19551	0.470000	0.32858	0.166000	0.16583	0.313000	0.23062	0.600000	0.82982	AGC		0.542	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
ERCC6L	54821	broad.mit.edu	37	X	71427573	71427573	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:71427573C>A	ENST00000334463.3	-	2	1179	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.K225N	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	348					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K348N(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CATCTGGATTCTTTTCATTAA	0.358																																					p.K348N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1044T	X						.						160.0	158.0	159.0					X																	71427573		2199	4294	6493	71344298	SO:0001583	missense	54821	exon2			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1044G>T	X.37:g.71427573C>A	ENSP00000334675:p.Lys348Asn		71344298	NM_017669	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	8.257	0.810252	0.16537	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91740	-2.86;-2.9	5.97	2.03	0.26663	.	.	.	.	.	D	0.89822	0.6826	M	0.72118	2.19	0.09310	N	1	P	0.35226	0.491	B	0.34652	0.187	T	0.78375	-0.2228	9	0.37606	T	0.19	0.0317	9.4516	0.38729	0.5388:0.3319:0.1293:0.0	.	348	Q2NKX8	ERC6L_HUMAN	N	225;348	ENSP00000362761:K225N;ENSP00000334675:K348N	ENSP00000334675:K348N	K	-	3	2	ERCC6L	71344298	0.000000	0.05858	0.009000	0.14445	0.504000	0.33889	-0.836000	0.04382	-0.029000	0.13827	0.600000	0.82982	AAG		0.358	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
PHKA1	5255	broad.mit.edu	37	X	71802290	71802290	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:71802290T>G	ENST00000373542.4	-	31	3615	c.3456A>C	c.(3454-3456)gaA>gaC	p.E1152D	PHKA1_ENST00000373545.3_Missense_Mutation_p.E1110D|PHKA1_ENST00000373539.3_Missense_Mutation_p.E1169D|PHKA1_ENST00000339490.3_Missense_Mutation_p.E1139D|PHKA1_ENST00000541944.1_Missense_Mutation_p.E1080D	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1152					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.E1152D(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCACTATTTTTTCCACAGCAA	0.428																																					p.E1080D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3240C	X						.						116.0	86.0	96.0					X																	71802290		2203	4300	6503	71719015	SO:0001583	missense	5255	exon29				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3456A>C	X.37:g.71802290T>G	ENSP00000362643:p.Glu1152Asp		71719015	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	T	6.436	0.448631	0.12223	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.89552	-2.42;-2.53;-2.47;-2.45;-2.45	5.17	-0.704	0.11256	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	N	0.03209	-0.39	0.29032	N	0.885623	P;B;B;B	0.39116	0.66;0.001;0.001;0.005	B;B;B;B	0.30716	0.119;0.005;0.003;0.013	T	0.70081	-0.4970	10	0.02654	T	1	-14.5656	9.3011	0.37847	0.0:0.3869:0.0:0.6131	.	1080;1110;1139;1152	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	D	1110;1152;1080;1139;1169	ENSP00000362646:E1110D;ENSP00000362643:E1152D;ENSP00000441251:E1080D;ENSP00000342469:E1139D;ENSP00000362640:E1169D	ENSP00000342469:E1139D	E	-	3	2	PHKA1	71719015	0.045000	0.20229	0.995000	0.50966	0.982000	0.71751	-0.670000	0.05256	-0.107000	0.12088	0.437000	0.28790	GAA		0.428	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
PHKA1	5255	broad.mit.edu	37	X	71822975	71822975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:71822975G>A	ENST00000373542.4	-	26	3070	c.2911C>T	c.(2911-2913)Cga>Tga	p.R971*	PHKA1_ENST00000373545.3_Nonsense_Mutation_p.R912*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.R971*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.R971*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.R912*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	971					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R971*(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCACCGCTTCGTTCCACTCCA	0.423																																					p.R912X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2734T	X						.						127.0	98.0	107.0					X																	71822975		2203	4300	6503	71739700	SO:0001587	stop_gained	5255	exon25				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2911C>T	X.37:g.71822975G>A	ENSP00000362643:p.Arg971*		71739700	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	43	10.468460	0.99411	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.64	2.62	0.31277	.	0.053778	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0938	11.4523	0.50160	0.0:0.0:0.4858:0.5142	.	.	.	.	X	912;971;912;971;971	.	ENSP00000342469:R971X	R	-	1	2	PHKA1	71739700	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	1.545000	0.36169	1.138000	0.42230	-0.222000	0.12452	CGA		0.423	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
PHKA1	5255	broad.mit.edu	37	X	71825180	71825180	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:71825180C>T	ENST00000373542.4	-	25	2915	c.2756G>A	c.(2755-2757)cGa>cAa	p.R919Q	PHKA1_ENST00000373545.3_Missense_Mutation_p.R860Q|PHKA1_ENST00000373539.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000339490.3_Missense_Mutation_p.R919Q|PHKA1_ENST00000541944.1_Missense_Mutation_p.R860Q	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	919					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R919Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGACCAATTCGAAGTCGAAA	0.403																																					p.R860Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2579A	X						.						105.0	87.0	93.0					X																	71825180		2203	4300	6503	71741905	SO:0001583	missense	5255	exon24				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2756G>A	X.37:g.71825180C>T	ENSP00000362643:p.Arg919Gln		71741905	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619200	0.96649	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.8	5.8	0.92144	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.75884	2.315	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94612	0.7805	10	0.48119	T	0.1	-3.7822	16.2856	0.82720	0.0:1.0:0.0:0.0	.	860;919;919	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	Q	860;919;860;919;919	ENSP00000362646:R860Q;ENSP00000362643:R919Q;ENSP00000441251:R860Q;ENSP00000342469:R919Q;ENSP00000362640:R919Q	ENSP00000342469:R919Q	R	-	2	0	PHKA1	71741905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.691000	0.84191	2.450000	0.82876	0.594000	0.82650	CGA		0.403	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
NAP1L2	4674	broad.mit.edu	37	X	72433068	72433068	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:72433068C>T	ENST00000373517.3	-	1	1616	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	NAP1L2_ENST00000536638.1_Missense_Mutation_p.V279I	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	421					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.V421I(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ACTTCTCTAACTACCCCCTCC	0.343																																					p.V421I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1261A	X						.						72.0	65.0	67.0					X																	72433068		2203	4300	6503	72349793	SO:0001583	missense	4674	exon1			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1261G>A	X.37:g.72433068C>T	ENSP00000362616:p.Val421Ile		72349793	NM_021963	B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	6.901	0.535840	0.13188	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.36340	1.5;1.26	3.03	1.23	0.21249	.	0.262478	0.35291	N	0.003313	T	0.14917	0.0360	N	0.08118	0	0.23966	N	0.996321	B	0.09022	0.002	B	0.06405	0.002	T	0.14337	-1.0476	10	0.30854	T	0.27	-6.4708	4.8582	0.13570	0.0:0.5344:0.0:0.4655	.	421	Q9ULW6	NP1L2_HUMAN	I	421;279	ENSP00000362616:V421I;ENSP00000441555:V279I	ENSP00000362616:V421I	V	-	1	0	NAP1L2	72349793	0.925000	0.31364	0.997000	0.53966	0.996000	0.88848	0.585000	0.23879	0.185000	0.20105	0.513000	0.50165	GTT		0.343	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
RLIM	51132	broad.mit.edu	37	X	73811991	73811991	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73811991G>A	ENST00000332687.6	-	4	1377	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	RLIM_ENST00000349225.2_Missense_Mutation_p.R387C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	387					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R387C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGATTCTACGAATGGGAATT	0.403																																					p.R387C	Esophageal Squamous(169;1899 1923 14997 18818 32118)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1159T	X						.						105.0	95.0	98.0					X																	73811991		2203	4300	6503	73728716	SO:0001583	missense	51132	exon5			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1159C>T	X.37:g.73811991G>A	ENSP00000328059:p.Arg387Cys		73728716	NM_183353	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085876	0.36758	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.11930	2.73;2.73	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13926	-1.0491	10	0.87932	D	0	-2.7021	13.8021	0.63206	0.0:0.0:0.8471:0.1529	.	387	Q9NVW2	RNF12_HUMAN	C	387	ENSP00000328059:R387C;ENSP00000253571:R387C	ENSP00000328059:R387C	R	-	1	0	RLIM	73728716	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.155000	0.71833	2.406000	0.81754	0.600000	0.82982	CGT		0.403	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73963428G>A	ENST00000055682.6	-	3	1575	c.964C>T	c.(964-966)Cga>Tga	p.R322*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438																																					p.R322X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C964T	X						.						91.0	78.0	83.0					X																	73963428		2203	4300	6503	73880153	SO:0001587	stop_gained	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.964C>T	X.37:g.73963428G>A	ENSP00000055682:p.Arg322*		73880153	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	41	8.972748	0.99021	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.83	5.83	0.93111	.	0.085176	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4723	13.402	0.60889	0.0:0.0:0.6959:0.3041	.	.	.	.	X	322	.	ENSP00000055682:R322X	R	-	1	2	KIAA2022	73880153	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.941000	0.56607	2.453000	0.82957	0.600000	0.82982	CGA		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
KIAA2022	340533	broad.mit.edu	37	X	73963725	73963725	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73963725G>A	ENST00000055682.6	-	3	1278	c.667C>T	c.(667-669)Cct>Tct	p.P223S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	223					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P223S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCAATGTCAGGTTTCTCAGTT	0.453																																					p.P223S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	X						.						144.0	130.0	135.0					X																	73963725		2203	4300	6503	73880450	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.667C>T	X.37:g.73963725G>A	ENSP00000055682:p.Pro223Ser		73880450	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.318453	0.01320	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.25250	1.81;1.81	5.97	-0.989	0.10242	.	0.568971	0.20308	N	0.094889	T	0.07007	0.0178	N	0.02539	-0.55	0.23023	N	0.998417	B	0.02656	0.0	B	0.04013	0.001	T	0.38650	-0.9651	10	0.06757	T	0.87	0.0363	7.2518	0.26154	0.6861:0.1456:0.1683:0.0	.	223	Q5QGS0	K2022_HUMAN	S	223	ENSP00000362567:P223S;ENSP00000055682:P223S	ENSP00000055682:P223S	P	-	1	0	KIAA2022	73880450	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	0.984000	0.29565	-0.237000	0.09739	0.600000	0.82982	CCT		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ABCB7	22	broad.mit.edu	37	X	74282176	74282176	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:74282176G>A	ENST00000373394.3	-	14	1929	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	ABCB7_ENST00000339447.4_Missense_Mutation_p.S601L|ABCB7_ENST00000253577.3_Missense_Mutation_p.S642L|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	641	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.S642L(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTCAGTAATCGAATCTAACGA	0.358																																					p.S642L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1925T	X						.						77.0	69.0	72.0					X																	74282176		2203	4300	6503	74198901	SO:0001583	missense	22	exon14			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1922C>T	X.37:g.74282176G>A	ENSP00000362492:p.Ser641Leu		74198901	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	G	27.4	4.828296	0.90955	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	N	0.25957	0.775	0.80722	D	1	D;D;D;P;D	0.76494	0.972;0.999;0.999;0.953;0.995	P;D;D;B;P	0.69479	0.629;0.964;0.921;0.425;0.896	D	0.88001	0.2756	10	0.87932	D	0	-21.4512	16.9284	0.86183	0.0:0.0:1.0:0.0	.	615;601;642;641;642	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	615;642;601;641;615	ENSP00000253577:S642L;ENSP00000343849:S601L;ENSP00000362492:S641L;ENSP00000436586:S615L	ENSP00000253577:S642L	S	-	2	0	ABCB7	74198901	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.320000	0.96346	2.204000	0.70986	0.594000	0.82650	TCG		0.358	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
ZDHHC15	158866	broad.mit.edu	37	X	74644554	74644554	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:74644554A>C	ENST00000373367.3	-	8	899	c.669T>G	c.(667-669)ttT>ttG	p.F223L	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.F214L|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.F183C	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	223					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F223L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GGCTGACAAAAAACATGCAGG	0.363																																					p.F214L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T642G	X						.						84.0	65.0	72.0					X																	74644554		2203	4300	6503	74561279	SO:0001583	missense	158866	exon7			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.669T>G	X.37:g.74644554A>C	ENSP00000362465:p.Phe223Leu		74561279	NM_001146256	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.467744|2.467744	0.43839|0.43839	.|.	.|.	ENSG00000102383|ENSG00000102383	ENST00000373361|ENST00000373367;ENST00000541184	T|T;T	0.59906|0.24723	0.23|1.84;1.84	5.88|5.88	3.54|3.54	0.40534|0.40534	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.40619|0.40619	0.1124|0.1124	M|M	0.65498|0.65498	2.005|2.005	0.24410|0.24410	N|N	0.994666|0.994666	.|D;D	.|0.89917	.|0.975;1.0	.|D;D	.|0.81914	.|0.925;0.995	T|T	0.18935|0.18935	-1.0321|-1.0321	8|10	0.87932|0.24483	D|T	0|0.36	-9.7298|-9.7298	5.4781|5.4781	0.16708|0.16708	0.6283:0.0:0.3717:0.0|0.6283:0.0:0.3717:0.0	.|.	.|214;223	.|B3KVG7;Q96MV8	.|.;ZDH15_HUMAN	C|L	183|223;214	ENSP00000362459:F183C|ENSP00000362465:F223L;ENSP00000445420:F214L	ENSP00000362459:F183C|ENSP00000362465:F223L	F|F	-|-	2|3	0|2	ZDHHC15|ZDHHC15	74561279|74561279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.079000|2.079000	0.41577|0.41577	0.843000|0.843000	0.35070|0.35070	0.486000|0.486000	0.48141|0.48141	TTT|TTT		0.363	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	
MAGEE2	139599	broad.mit.edu	37	X	75004692	75004692	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:75004692C>T	ENST00000373359.2	-	1	387	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	65								p.P65P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGTCATTCGGGTCCTGAA	0.587																																					p.P65P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	X						.						39.0	36.0	37.0					X																	75004692		2203	4300	6503	74921417	SO:0001819	synonymous_variant	139599	exon1			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.195G>A	X.37:g.75004692C>T			74921417	NM_138703	Q5JSI5	Silent	SNP	ENST00000373359.2	37	CCDS14431.1																																																																																				0.587	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
MAGEE1	57692	broad.mit.edu	37	X	75649460	75649460	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:75649460C>T	ENST00000361470.2	+	1	1415	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	379	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.S379S(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGGACACCTCCGTGCCGCCCA	0.677																																					p.S379S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1137T	X						.						39.0	28.0	32.0					X																	75649460		2203	4299	6502	75565864	SO:0001819	synonymous_variant	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1137C>T	X.37:g.75649460C>T			75565864	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
MAGEE1	57692	broad.mit.edu	37	X	75650296	75650296	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:75650296G>T	ENST00000361470.2	+	1	2251	c.1973G>T	c.(1972-1974)aGa>aTa	p.R658I		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	658	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.R658I(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGGGGCCCAAGATCCCACCTA	0.428																																					p.R658I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1973T	X						.						42.0	39.0	40.0					X																	75650296		2203	4300	6503	75566700	SO:0001583	missense	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1973G>T	X.37:g.75650296G>T	ENSP00000354912:p.Arg658Ile		75566700	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973191	0.18736	.	.	ENSG00000198934	ENST00000361470	T	0.22743	1.94	2.34	1.46	0.22682	.	.	.	.	.	T	0.47525	0.1450	M	0.92026	3.265	0.21579	N	0.999631	D	0.65815	0.995	D	0.72075	0.976	T	0.27905	-1.0060	9	0.87932	D	0	.	4.2562	0.10719	0.2085:0.0:0.7915:0.0	.	658	Q9HCI5	MAGE1_HUMAN	I	658	ENSP00000354912:R658I	ENSP00000354912:R658I	R	+	2	0	MAGEE1	75566700	0.936000	0.31750	0.048000	0.18961	0.310000	0.27922	2.592000	0.46171	0.407000	0.25591	0.594000	0.82650	AGA		0.428	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
MAGEE1	57692	broad.mit.edu	37	X	75651050	75651050	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:75651050C>A	ENST00000361470.2	+	1	3005	c.2727C>A	c.(2725-2727)acC>acA	p.T909T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	909	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T909T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTTTGGAAACCTCTAAGATGA	0.488																																					p.T909T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2727A	X						.						77.0	73.0	75.0					X																	75651050		2203	4300	6503	75567454	SO:0001819	synonymous_variant	57692	exon1			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2727C>A	X.37:g.75651050C>A			75567454	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463																																					p.R145Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434A	X						.						216.0	147.0	170.0					X																	78010800		2203	4300	6503	77897456	SO:0001583	missense	2846	exon2			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.434G>A	X.37:g.78010800G>A	ENSP00000408205:p.Arg145Gln		77897456	NM_005296	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
FAM46D	169966	broad.mit.edu	37	X	79698517	79698517	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:79698517A>C	ENST00000308293.5	+	3	718	c.479A>C	c.(478-480)aAa>aCa	p.K160T	FAM46D_ENST00000538312.1_Missense_Mutation_p.K160T	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	160								p.K160T(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTAGAACTAAAATTTGTGAGT	0.373																																					p.K160T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A479C	X						.						83.0	81.0	82.0					X																	79698517		2202	4299	6501	79585173	SO:0001583	missense	169966	exon5			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.479A>C	X.37:g.79698517A>C	ENSP00000308575:p.Lys160Thr		79585173	NM_001170574	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701333	0.48307	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.35605	1.3;1.3	4.8	4.8	0.61643	Domain of unknown function DUF1693 (1);	0.056200	0.64402	D	0.000001	T	0.63450	0.2512	M	0.88704	2.975	0.58432	D	0.999994	D	0.76494	0.999	D	0.68943	0.961	T	0.71220	-0.4657	10	0.87932	D	0	-17.8212	12.2722	0.54712	1.0:0.0:0.0:0.0	.	160	Q8NEK8	FA46D_HUMAN	T	160	ENSP00000443410:K160T;ENSP00000308575:K160T	ENSP00000308575:K160T	K	+	2	0	FAM46D	79585173	1.000000	0.71417	0.997000	0.53966	0.650000	0.38633	6.640000	0.74319	1.774000	0.52232	0.481000	0.45027	AAA		0.373	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
FAM46D	169966	broad.mit.edu	37	X	79699082	79699082	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:79699082T>G	ENST00000308293.5	+	3	1283	c.1044T>G	c.(1042-1044)ttT>ttG	p.F348L	FAM46D_ENST00000538312.1_Missense_Mutation_p.F348L	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	348								p.F348L(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TAACTTGCTTTTATCAGCCTG	0.448																																					p.F348L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1044G	X						.						80.0	71.0	74.0					X																	79699082		2203	4298	6501	79585738	SO:0001583	missense	169966	exon5			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.1044T>G	X.37:g.79699082T>G	ENSP00000308575:p.Phe348Leu		79585738	NM_001170574	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729168	0.48833	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.24151	1.87;1.87	4.25	4.25	0.50352	.	0.383824	0.26979	N	0.021532	T	0.23727	0.0574	M	0.63843	1.955	0.45528	D	0.998486	P	0.42456	0.78	B	0.34931	0.192	T	0.05370	-1.0889	10	0.40728	T	0.16	-5.6845	11.4362	0.50070	0.0:0.0:0.0:1.0	.	348	Q8NEK8	FA46D_HUMAN	L	348	ENSP00000443410:F348L;ENSP00000308575:F348L	ENSP00000308575:F348L	F	+	3	2	FAM46D	79585738	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.324000	0.33712	1.569000	0.49696	0.481000	0.45027	TTT		0.448	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
BRWD3	254065	broad.mit.edu	37	X	79999689	79999689	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:79999689G>A	ENST00000373275.4	-	8	871	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	219					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R219C(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GAGTGTCCACGAAGTGTAGCA	0.403																																					p.R219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C655T	X						.						121.0	108.0	113.0					X																	79999689		2203	4300	6503	79886345	SO:0001583	missense	254065	exon8				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.655C>T	X.37:g.79999689G>A	ENSP00000362372:p.Arg219Cys		79886345	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962280	0.74016	.	.	ENSG00000165288	ENST00000373275	T	0.20738	2.05	4.42	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.077607	0.52532	D	0.000070	T	0.48021	0.1477	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50415	-0.8831	9	.	.	.	-8.4293	12.4102	0.55464	0.0:0.0:0.6667:0.3333	.	219	Q6RI45	BRWD3_HUMAN	C	219	ENSP00000362372:R219C	.	R	-	1	0	BRWD3	79886345	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.812000	0.55628	0.369000	0.24510	0.415000	0.27848	CGT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
HMGN5	79366	broad.mit.edu	37	X	80370582	80370582	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:80370582C>T	ENST00000358130.2	-	7	743	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	139					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.E139K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						cctttctcttcgttttgatct	0.378																																					p.E139K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G415A	X						.						132.0	98.0	109.0					X																	80370582		2046	3960	6006	80257238	SO:0001583	missense	79366	exon7			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.415G>A	X.37:g.80370582C>T	ENSP00000350848:p.Glu139Lys		80257238	NM_030763	Q5JSL1	Missense_Mutation	SNP	ENST00000358130.2	37	CCDS14448.1	.	.	.	.	.	.	.	.	.	.	C	2.902	-0.227180	0.06022	.	.	ENSG00000198157	ENST00000358130;ENST00000447319;ENST00000373250;ENST00000430960	.	.	.	3.62	-2.54	0.06307	.	1.437710	0.05237	N	0.511522	T	0.13329	0.0323	N	0.02539	-0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15521	-1.0434	9	0.22706	T	0.39	.	4.54	0.12052	0.1653:0.2948:0.0:0.5399	.	139	P82970	HMGN5_HUMAN	K	139;119;129;139	.	ENSP00000350848:E139K	E	-	1	0	HMGN5	80257238	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.825000	0.04433	-0.891000	0.03940	-0.735000	0.03563	GAA		0.378	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763	
CYLC1	1538	broad.mit.edu	37	X	83126529	83126529	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:83126529G>T	ENST00000329312.4	+	3	165	c.128G>T	c.(127-129)aGa>aTa	p.R43I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	43					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R42I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CCACTCCAGAGAGGTACAAAT	0.308																																					p.R43I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128T	X						.						64.0	59.0	61.0					X																	83126529		2202	4295	6497	83013185	SO:0001583	missense	1538	exon3			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.128G>T	X.37:g.83126529G>T	ENSP00000331556:p.Arg43Ile		83013185	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	7.940	0.742521	0.15642	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.47177	0.85	4.59	3.72	0.42706	.	.	.	.	.	T	0.32645	0.0836	N	0.22421	0.69	0.34165	D	0.669172	P;P	0.35982	0.531;0.531	B;B	0.34242	0.178;0.178	T	0.49283	-0.8956	9	0.72032	D	0.01	-6.3975	9.5381	0.39235	0.0:0.7787:0.2213:0.0	.	43;43	P35663;F5H4V5	CYLC1_HUMAN;.	I	43	ENSP00000331556:R43I	ENSP00000331556:R43I	R	+	2	0	CYLC1	83013185	1.000000	0.71417	0.975000	0.42487	0.022000	0.10575	0.884000	0.28214	1.048000	0.40298	-0.216000	0.12614	AGA		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
HDX	139324	broad.mit.edu	37	X	83576992	83576992	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:83576992C>A	ENST00000297977.5	-	10	2089	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	HDX_ENST00000373177.2_Nonsense_Mutation_p.E660*|HDX_ENST00000506585.2_Nonsense_Mutation_p.E602*	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	660						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E660*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCATTTCCTCTAATTCAGGA	0.328																																					p.E660X	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1978T	X						.						65.0	54.0	58.0					X																	83576992		2203	4299	6502	83463648	SO:0001587	stop_gained	139324	exon11			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1978G>T	X.37:g.83576992C>A	ENSP00000297977:p.Glu660*		83463648	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Nonsense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	37	6.360262	0.97502	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	.	.	.	5.52	5.52	0.82312	.	0.265952	0.38111	N	0.001818	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.2186	18.5022	0.90886	0.0:1.0:0.0:0.0	.	.	.	.	X	660;602;660	.	ENSP00000297977:E660X	E	-	1	0	HDX	83463648	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.181000	0.65054	2.311000	0.77944	0.600000	0.82982	GAG		0.328	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
HDX	139324	broad.mit.edu	37	X	83599313	83599313	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:83599313C>A	ENST00000297977.5	-	6	1716	c.1605G>T	c.(1603-1605)gaG>gaT	p.E535D	HDX_ENST00000373177.2_Missense_Mutation_p.E535D|HDX_ENST00000506585.2_Missense_Mutation_p.E477D	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	535						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E535D(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTCATTATCCTCTCCTACTT	0.443																																					p.E535D	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1605T	X						.						113.0	101.0	105.0					X																	83599313		2203	4300	6503	83485969	SO:0001583	missense	139324	exon7			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1605G>T	X.37:g.83599313C>A	ENSP00000297977:p.Glu535Asp		83485969	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529834	0.27387	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.32515	1.47;1.45;1.47	5.46	-3.32	0.04973	.	0.345509	0.31566	N	0.007423	T	0.13114	0.0318	N	0.20986	0.625	0.31715	N	0.639039	B	0.14012	0.009	B	0.10450	0.005	T	0.07868	-1.0750	10	0.27082	T	0.32	-12.3221	2.4393	0.04490	0.2566:0.1615:0.0924:0.4895	.	535	Q7Z353	HDX_HUMAN	D	535;477;535	ENSP00000297977:E535D;ENSP00000362272:E477D;ENSP00000423670:E535D	ENSP00000297977:E535D	E	-	3	2	HDX	83485969	0.839000	0.29477	0.895000	0.35142	0.968000	0.65278	-0.209000	0.09358	-1.130000	0.02914	0.597000	0.82753	GAG		0.443	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
HDX	139324	broad.mit.edu	37	X	83723656	83723656	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:83723656C>A	ENST00000297977.5	-	3	1186	c.1075G>T	c.(1075-1077)Gat>Tat	p.D359Y	HDX_ENST00000373177.2_Missense_Mutation_p.D359Y|HDX_ENST00000506585.2_Missense_Mutation_p.D301Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	359						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D359Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTGACATATCTCTAATATTC	0.393																																					p.D359Y	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1075T	X						.						152.0	127.0	136.0					X																	83723656		2203	4300	6503	83610312	SO:0001583	missense	139324	exon4			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1075G>T	X.37:g.83723656C>A	ENSP00000297977:p.Asp359Tyr		83610312	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093372	0.36952	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.39592	1.13;1.07;1.13	5.43	5.43	0.79202	.	0.295020	0.33327	N	0.005036	T	0.53286	0.1787	L	0.54323	1.7	0.44531	D	0.997487	D	0.71674	0.998	P	0.57371	0.819	T	0.56811	-0.7917	10	0.87932	D	0	-1.9988	12.5908	0.56441	0.0:0.9187:0.0:0.0813	.	359	Q7Z353	HDX_HUMAN	Y	359;301;359	ENSP00000297977:D359Y;ENSP00000362272:D301Y;ENSP00000423670:D359Y	ENSP00000297977:D359Y	D	-	1	0	HDX	83610312	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	3.584000	0.53936	2.258000	0.74832	0.415000	0.27848	GAT		0.393	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
HDX	139324	broad.mit.edu	37	X	83723827	83723827	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:83723827C>A	ENST00000297977.5	-	3	1015	c.904G>T	c.(904-906)Gat>Tat	p.D302Y	HDX_ENST00000373177.2_Missense_Mutation_p.D302Y|HDX_ENST00000506585.2_Missense_Mutation_p.D244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	302						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D302Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCTCAGCATCTCCAGTCTCC	0.488																																					p.D302Y	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904T	X						.						112.0	96.0	101.0					X																	83723827		2203	4300	6503	83610483	SO:0001583	missense	139324	exon4			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.904G>T	X.37:g.83723827C>A	ENSP00000297977:p.Asp302Tyr		83610483	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545679	0.45280	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.51817	0.79;0.69;0.79	4.94	4.04	0.47022	.	0.169084	0.51477	D	0.000083	T	0.54481	0.1861	L	0.59436	1.845	0.49915	D	0.999836	D	0.65815	0.995	P	0.53401	0.725	T	0.57682	-0.7769	10	0.87932	D	0	-8.6306	11.2817	0.49199	0.0:0.9029:0.0:0.0971	.	302	Q7Z353	HDX_HUMAN	Y	302;244;302	ENSP00000297977:D302Y;ENSP00000362272:D244Y;ENSP00000423670:D302Y	ENSP00000297977:D302Y	D	-	1	0	HDX	83610483	0.983000	0.35010	1.000000	0.80357	0.959000	0.62525	2.488000	0.45276	0.897000	0.36392	0.422000	0.28245	GAT		0.488	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
CHM	1121	broad.mit.edu	37	X	85149241	85149241	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:85149241G>A	ENST00000357749.2	-	12	1491	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R340W	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	488					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.R488W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCAATGACCCGAACAGCAAAA	0.378																																					p.R488W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1462T	X						.						148.0	122.0	131.0					X																	85149241		2203	4300	6503	85035897	SO:0001583	missense	1121	exon12			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1462C>T	X.37:g.85149241G>A	ENSP00000350386:p.Arg488Trp		85035897	NM_000390	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249888	0.22880	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85411	-1.98;-1.98	5.11	4.25	0.50352	.	0.422409	0.26808	N	0.022393	D	0.91243	0.7240	M	0.87180	2.865	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83027	-0.0164	10	0.46703	T	0.11	-0.5221	5.9672	0.19332	0.3663:0.0:0.6337:0.0	.	488	P24386	RAE1_HUMAN	W	488;340	ENSP00000350386:R488W;ENSP00000441728:R340W	ENSP00000350386:R488W	R	-	1	2	CHM	85035897	0.999000	0.42202	0.014000	0.15608	0.005000	0.04900	1.846000	0.39289	0.942000	0.37525	0.600000	0.82982	CGG		0.378	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
CHM	1121	broad.mit.edu	37	X	85156154	85156154	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:85156154G>T	ENST00000357749.2	-	10	1313	c.1284C>A	c.(1282-1284)atC>atA	p.I428I	CHM_ENST00000467744.2_Intron|MIR361_ENST00000362181.1_RNA|CHM_ENST00000537751.1_Silent_p.I280I	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	428					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.I428I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AATGCTCAGAGATTATTCTCT	0.378																																					p.I428I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284A	X						.						69.0	56.0	60.0					X																	85156154		2203	4300	6503	85042810	SO:0001819	synonymous_variant	1121	exon10			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1284C>A	X.37:g.85156154G>T			85042810	NM_000390	A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	CCDS14454.1																																																																																				0.378	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
DACH2	117154	broad.mit.edu	37	X	85403761	85403761	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:85403761T>G	ENST00000373125.4	+	1	137	c.137T>G	c.(136-138)tTc>tGc	p.F46C	DACH2_ENST00000373131.1_Missense_Mutation_p.F46C	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	46					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F46C(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATCAATAGTTTCGTGGTTAAT	0.607																																					p.F46C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T137G	X						.						45.0	38.0	41.0					X																	85403761		2203	4300	6503	85290417	SO:0001583	missense	117154	exon1			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.137T>G	X.37:g.85403761T>G	ENSP00000362217:p.Phe46Cys		85290417	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801253	0.31869	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.83992	-1.79;-1.79	4.49	4.49	0.54785	Transforming protein Ski (1);	0.000000	0.51477	D	0.000088	D	0.88811	0.6538	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.87896	0.2687	10	0.38643	T	0.18	.	12.1654	0.54127	0.0:0.0:0.0:1.0	.	46;46	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	C	46	ENSP00000362223:F46C;ENSP00000362217:F46C	ENSP00000345134:F46C	F	+	2	0	DACH2	85290417	1.000000	0.71417	0.987000	0.45799	0.030000	0.12068	6.238000	0.72350	1.659000	0.50751	0.437000	0.28790	TTC		0.607	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
DACH2	117154	broad.mit.edu	37	X	85969625	85969625	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:85969625G>T	ENST00000373125.4	+	6	1006	c.1006G>T	c.(1006-1008)Gca>Tca	p.A336S	DACH2_ENST00000508860.1_Missense_Mutation_p.A169S|DACH2_ENST00000373131.1_Missense_Mutation_p.A323S|DACH2_ENST00000510272.1_Missense_Mutation_p.A117S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	336					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A323S(1)|p.A336S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTTGCCATGGCAATGAATCA	0.453																																					p.A336S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1006T	X						.						181.0	145.0	157.0					X																	85969625		2203	4300	6503	85856281	SO:0001583	missense	117154	exon6			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1006G>T	X.37:g.85969625G>T	ENSP00000362217:p.Ala336Ser		85856281	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048143	0.75846	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.87179	-2.22;-2.2	5.02	5.02	0.67125	.	0.180392	0.37348	N	0.002126	D	0.92149	0.7511	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	0.994;0.997;1.0;0.99	P;P;D;P	0.91635	0.887;0.804;0.999;0.844	D	0.91035	0.4867	10	0.32370	T	0.25	.	17.5775	0.87955	0.0:0.0:1.0:0.0	.	202;336;323;336	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	S	336;323;336;169;117;169	ENSP00000362223:A323S;ENSP00000362217:A336S	ENSP00000345134:A336S	A	+	1	0	DACH2	85856281	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	8.894000	0.92506	2.079000	0.62486	0.513000	0.50165	GCA		0.453	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
PABPC5	140886	broad.mit.edu	37	X	90690928	90690928	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:90690928G>T	ENST00000312600.3	+	2	566	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	118	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.D118Y(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAAATCCATAGACAATAGGGC	0.423																																					p.D118Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352T	X						.						82.0	76.0	78.0					X																	90690928		2203	4300	6503	90577584	SO:0001583	missense	140886	exon2			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.352G>T	X.37:g.90690928G>T	ENSP00000308012:p.Asp118Tyr		90577584	NM_080832	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374140	0.61735	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.17528	2.27	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044885	0.85682	D	0.000000	T	0.49457	0.1558	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60662	-0.7219	10	0.87932	D	0	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	118	Q96DU9	PABP5_HUMAN	Y	118;86	ENSP00000308012:D118Y	ENSP00000308012:D118Y	D	+	1	0	PABPC5	90577584	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.240000	0.95396	2.450000	0.82876	0.600000	0.82982	GAC		0.423	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	
RPA4	29935	broad.mit.edu	37	X	96139422	96139422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:96139422G>T	ENST00000373040.3	+	1	516	c.113G>T	c.(112-114)aGa>aTa	p.R38I	DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	38					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.R38I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AAGACCCAAAGACCTAAGGTC	0.488								Other identified genes with known or suspected DNA repair function																													p.R38I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113T	X						.						141.0	114.0	123.0					X																	96139422		2203	4300	6503	96026078	SO:0001583	missense	29935	exon1			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.113G>T	X.37:g.96139422G>T	ENSP00000362131:p.Arg38Ile		96026078	NM_013347	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362941	0.41902	.	.	ENSG00000204086	ENST00000373040	T	0.19250	2.16	3.48	2.48	0.30137	.	.	.	.	.	T	0.12433	0.0302	N	0.22421	0.69	0.09310	N	1	B	0.30584	0.286	B	0.20384	0.029	T	0.19745	-1.0296	9	0.87932	D	0	-34.8002	6.8459	0.23988	0.0:0.0:0.6219:0.3781	.	38	Q13156	RFA4_HUMAN	I	38	ENSP00000362131:R38I	ENSP00000362131:R38I	R	+	2	0	RPA4	96026078	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.401000	0.20948	0.673000	0.31224	0.600000	0.82982	AGA		0.488	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
DIAPH2	1730	broad.mit.edu	37	X	96684688	96684688	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:96684688C>T	ENST00000324765.8	+	26	3532	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	DIAPH2_ENST00000373054.4_Missense_Mutation_p.A1058V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A1062V|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A1062V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A1062V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1062	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.A1062V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTCTAGAAGCCCTACAATCA	0.398																																					p.A1062V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3185T	X						.						84.0	75.0	78.0					X																	96684688		2203	4300	6503	96571344	SO:0001583	missense	1730	exon26			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3185C>T	X.37:g.96684688C>T	ENSP00000321348:p.Ala1062Val		96571344	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411070	0.83340	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83250	-1.7;-1.69;-1.65;-1.65;-1.7	5.31	5.31	0.75309	DRF autoregulatory (1);Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.000000	0.85682	D	0.000000	D	0.92364	0.7577	M	0.87180	2.865	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.986	D	0.93623	0.6949	10	0.87932	D	0	.	18.3124	0.90204	0.0:1.0:0.0:0.0	.	1062;1062	O60879;O60879-2	DIAP2_HUMAN;.	V	1062;1058;1062;1062;1062;1069	ENSP00000362152:A1062V;ENSP00000362145:A1058V;ENSP00000348082:A1062V;ENSP00000362140:A1062V;ENSP00000321348:A1062V	ENSP00000321348:A1062V	A	+	2	0	DIAPH2	96571344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.639000	0.74314	2.351000	0.79841	0.600000	0.82982	GCC		0.398	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
PCDH19	57526	broad.mit.edu	37	X	99551365	99551365	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:99551365C>A	ENST00000373034.4	-	6	5032	c.3357G>T	c.(3355-3357)gaG>gaT	p.E1119D	PCDH19_ENST00000255531.7_Missense_Mutation_p.E1072D|PCDH19_ENST00000420881.2_Missense_Mutation_p.E1071D|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1119					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1119D(1)|p.E572D(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCATGACTTTCTCGCTATCAG	0.547																																					p.E1072D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3216T	X						.						126.0	118.0	121.0					X																	99551365		2034	4183	6217	99438021	SO:0001583	missense	57526	exon5			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3357G>T	X.37:g.99551365C>A	ENSP00000362125:p.Glu1119Asp		99438021	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526229	0.44969	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.59502	0.26;0.36;0.26	5.52	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	L	0.29908	0.895	0.54753	D	0.999983	D;D;D	0.61697	0.984;0.99;0.984	D;D;D	0.70935	0.956;0.971;0.935	T	0.57177	-0.7856	10	0.62326	D	0.03	.	8.578	0.33609	0.0:0.4656:0.0:0.5344	.	1119;1072;1071	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	D	1071;1119;1072	ENSP00000400327:E1071D;ENSP00000362125:E1119D;ENSP00000255531:E1072D	ENSP00000255531:E1072D	E	-	3	2	PCDH19	99438021	0.998000	0.40836	0.984000	0.44739	0.970000	0.65996	0.456000	0.21859	0.108000	0.17862	0.600000	0.82982	GAG		0.547	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
TSPAN6	7105	broad.mit.edu	37	X	99887533	99887533	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:99887533C>A	ENST00000373020.4	-	6	729	c.618G>T	c.(616-618)gaG>gaT	p.E206D	TSPAN6_ENST00000496771.1_5'Flank	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	206					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.E206D(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CCATTTCTGACTCTATAATGG	0.363																																					p.E206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G618T	X						.						64.0	59.0	61.0					X																	99887533		2203	4300	6503	99774189	SO:0001583	missense	7105	exon6			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.618G>T	X.37:g.99887533C>A	ENSP00000362111:p.Glu206Asp		99774189	NM_003270	Q54A42|Q6IAN9	Missense_Mutation	SNP	ENST00000373020.4	37	CCDS14470.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045718	0.55110	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	T	0.79749	-1.3	5.5	1.47	0.22746	Tetraspanin, EC2 domain (1);	0.344862	0.36200	N	0.002726	T	0.81950	0.4931	M	0.78344	2.41	0.54753	D	0.999981	B	0.31227	0.314	B	0.42163	0.378	T	0.75611	-0.3258	9	.	.	.	.	9.8988	0.41335	0.0:0.6577:0.0:0.3423	.	206	O43657	TSN6_HUMAN	D	206;188	ENSP00000362111:E206D	.	E	-	3	2	TSPAN6	99774189	0.705000	0.27846	1.000000	0.80357	0.549000	0.35272	-0.159000	0.10056	0.165000	0.19558	0.513000	0.50165	GAG		0.363	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
SPRY3	10251	broad.mit.edu	37	X	155004379	155004379	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:155004379G>T	ENST00000302805.2	+	2	1277	c.846G>T	c.(844-846)aaG>aaT	p.K282N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	282					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K282N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTTCCCCAAGGCCCAGGAAA	0.547																																					p.K282N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G846T	X						.						105.0	106.0	105.0					X																	155004379		2203	4296	6499	154657573	SO:0001583	missense	10251	exon2			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.846G>T	X.37:g.155004379G>T	ENSP00000302978:p.Lys282Asn		154657573	NM_005840	A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553855	0.27739	.	.	ENSG00000168939	ENST00000302805	T	0.57752	0.38	3.12	3.12	0.35913	.	0.221748	0.36444	N	0.002583	T	0.42720	0.1215	.	.	.	0.09310	N	1	B	0.31893	0.345	B	0.32289	0.143	T	0.45571	-0.9252	9	0.59425	D	0.04	-21.4755	11.3145	0.49383	0.0:0.0:1.0:0.0	.	282	O43610	SPY3_HUMAN	N	282	ENSP00000302978:K282N	ENSP00000302978:K282N	K	+	3	2	SPRY3	154657573	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.511000	0.45476	1.581000	0.49865	0.279000	0.19357	AAG		0.547	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
RIF1	55183	broad.mit.edu	37	2	152320827	152320827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152320827delA	ENST00000243326.5	+	29	5276	c.4793delA	c.(4792-4794)gaafs	p.E1598fs	RIF1_ENST00000430328.2_Frame_Shift_Del_p.E1598fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.E1598fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.E1598fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.E1598fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.N1599fs*14(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATAAAAGCTGAAAATCAGTCA	0.328																																					p.E1598fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4793delA	2						.						60.0	59.0	59.0					2																	152320827		2203	4300	6503	152029073	SO:0001589	frameshift_variant	55183	exon30			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4793delA	2.37:g.152320827delA	ENSP00000243326:p.Glu1598fs		152029073	NM_001177664	A0AVS0|Q9NS16	Frame_Shift_Del	DEL	ENST00000243326.5	37	CCDS2194.1																																																																																				0.328	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
GRHL1	29841	broad.mit.edu	37	2	10101455	10101455	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:10101455G>A	ENST00000324907.9	+	4	695	c.559G>A	c.(559-561)Gat>Aat	p.D187N	GRHL1_ENST00000405379.2_Missense_Mutation_p.D187N|GRHL1_ENST00000324883.5_Silent_p.S23S	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	187					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S23S(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGTGGTTTTCGATCGGAATCT	0.542																																					p.D187N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G559A	2						.						123.0	118.0	120.0					2																	10101455		2203	4300	6503	10018906	SO:0001583	missense	29841	exon4			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.559G>A	2.37:g.10101455G>A	ENSP00000324693:p.Asp187Asn		10018906	NM_198182	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013654	0.93404	.	.	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.12147	2.71;2.71	5.5	5.5	0.81552	.	0.043088	0.85682	D	0.000000	T	0.19525	0.0469	L	0.60455	1.87	0.80722	D	1	P	0.51351	0.944	B	0.41174	0.349	T	0.01574	-1.1321	10	0.72032	D	0.01	.	19.3932	0.94594	0.0:0.0:1.0:0.0	.	187	Q9NZI5	GRHL1_HUMAN	N	187	ENSP00000384209:D187N;ENSP00000324693:D187N	ENSP00000324693:D187N	D	+	1	0	GRHL1	10018906	1.000000	0.71417	0.996000	0.52242	0.802000	0.45316	9.188000	0.94921	2.594000	0.87642	0.563000	0.77884	GAT		0.542	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552	
GRHL1	29841	broad.mit.edu	37	2	10104084	10104084	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:10104084G>A	ENST00000324907.9	+	6	952	c.816G>A	c.(814-816)acG>acA	p.T272T	GRHL1_ENST00000405379.2_Silent_p.T272T|GRHL1_ENST00000324883.5_Silent_p.T83T	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	272					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T83T(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GTACCATGACGTACCTGAACA	0.443																																					p.T272T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G816A	2						.						155.0	129.0	138.0					2																	10104084		2203	4300	6503	10021535	SO:0001819	synonymous_variant	29841	exon6			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.816G>A	2.37:g.10104084G>A			10021535	NM_198182	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	37	CCDS33144.2																																																																																				0.443	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552	
CHST10	9486	broad.mit.edu	37	2	101010210	101010210	+	Missense_Mutation	SNP	C	C	A	rs368455898		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:101010210C>A	ENST00000264249.3	-	7	953	c.568G>T	c.(568-570)Gat>Tat	p.D190Y	CHST10_ENST00000409701.1_Missense_Mutation_p.D190Y|CHST10_ENST00000542617.1_Missense_Mutation_p.D238Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	190					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.D190Y(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCGAAGGGATCTCTTACAATA	0.423																																					p.D190Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568T	2						.						50.0	55.0	53.0					2																	101010210		2203	4300	6503	100376642	SO:0001583	missense	9486	exon7			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.568G>T	2.37:g.101010210C>A	ENSP00000264249:p.Asp190Tyr		100376642	NM_004854	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869513	0.91587	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.79352	1.25;-1.26;1.25	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89753	0.3941	10	0.72032	D	0.01	-28.288	20.6208	0.99490	0.0:1.0:0.0:0.0	.	190	O43529	CHSTA_HUMAN	Y	190;238;190	ENSP00000264249:D190Y;ENSP00000438869:D238Y;ENSP00000387309:D190Y	ENSP00000264249:D190Y	D	-	1	0	CHST10	100376642	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.625000	0.83145	2.882000	0.98803	0.655000	0.94253	GAT		0.423	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
MAP4K4	9448	broad.mit.edu	37	2	102441865	102441865	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102441865G>A	ENST00000347699.4	+	5	391	c.391G>A	c.(391-393)Gct>Act	p.A131T	MAP4K4_ENST00000350878.4_Missense_Mutation_p.A111T|MAP4K4_ENST00000324219.4_Missense_Mutation_p.A131T|MAP4K4_ENST00000413150.2_Missense_Mutation_p.A131T|MAP4K4_ENST00000425019.1_Missense_Mutation_p.A131T|MAP4K4_ENST00000456652.1_Missense_Mutation_p.A131T|MAP4K4_ENST00000350198.4_Missense_Mutation_p.A131T|MAP4K4_ENST00000302217.5_Missense_Mutation_p.A131T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.A131T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGACTGGATCGCTTACATCTC	0.488																																					p.A131T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G391A	2						.						98.0	98.0	98.0					2																	102441865		1939	4146	6085	101808297	SO:0001583	missense	9448	exon5			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.391G>A	2.37:g.102441865G>A	ENSP00000314363:p.Ala131Thr		101808297	NM_145687	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940131	0.92526	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.65732	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;-0.17	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.997;1.0;0.997;0.982;0.996;0.995;0.995;0.995;0.992;0.992	T	0.81448	-0.0928	10	0.87932	D	0	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	111;131;111;131;131;131;131;131;131;131	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	T	131;131;131;131;131;131;131;93;111	ENSP00000392830:A131T;ENSP00000313644:A131T;ENSP00000281111:A131T;ENSP00000303600:A131T;ENSP00000389752:A131T;ENSP00000387370:A131T;ENSP00000314363:A131T;ENSP00000409720:A93T;ENSP00000343658:A111T	ENSP00000303600:A131T	A	+	1	0	MAP4K4	101808297	1.000000	0.71417	0.914000	0.36105	0.979000	0.70002	9.813000	0.99286	2.783000	0.95769	0.655000	0.94253	GCT		0.488	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
MAP4K4	9448	broad.mit.edu	37	2	102503559	102503559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102503559G>T	ENST00000347699.4	+	27	3196	c.3196G>T	c.(3196-3198)Gaa>Taa	p.E1066*	MAP4K4_ENST00000350878.4_Nonsense_Mutation_p.E1106*|MAP4K4_ENST00000324219.4_Nonsense_Mutation_p.E1147*|MAP4K4_ENST00000413150.2_Nonsense_Mutation_p.E981*|MAP4K4_ENST00000425019.1_Nonsense_Mutation_p.E1099*|MAP4K4_ENST00000456652.1_Nonsense_Mutation_p.E865*|MAP4K4_ENST00000350198.4_Nonsense_Mutation_p.E985*|MAP4K4_ENST00000302217.5_Nonsense_Mutation_p.E869*	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1066	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E1147*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCATTTGGAGAATTGGTACA	0.423																																					p.E1039X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3115T	2						.						60.0	57.0	58.0					2																	102503559		1889	4124	6013	101869991	SO:0001587	stop_gained	9448	exon28			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3196G>T	2.37:g.102503559G>T	ENSP00000314363:p.Glu1066*		101869991	NM_145687	O75172|Q9NST7	Nonsense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.487624|7.487624	0.98316|0.98316	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.123345|.	0.53938|.	D|.	0.000046|.	.|T	.|0.74520	.|0.3727	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74064	.|-0.3785	.|3	0.66056|.	D|.	0.02|.	.|.	18.4585|18.4585	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1099;1147;985;869;981;865;1066;997;1106|882	.|.	ENSP00000303600:E869X|.	E|R	+|+	1|2	0|0	MAP4K4|MAP4K4	101869991|101869991	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.991000|0.991000	0.79684|0.79684	9.869000|9.869000	0.99810|0.99810	2.352000|2.352000	0.79861|0.79861	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.423	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
IL1R2	7850	broad.mit.edu	37	2	102632479	102632479	+	Missense_Mutation	SNP	G	G	A	rs143112573		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102632479G>A	ENST00000332549.3	+	4	708	c.479G>A	c.(478-480)cGt>cAt	p.R160H	IL1R2_ENST00000441002.1_Missense_Mutation_p.R160H|IL1R2_ENST00000393414.2_Missense_Mutation_p.R160H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	160	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.R160H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GAATTCACCCGTGACAAAACT	0.388																																					p.R160H	Pancreas(106;189 1628 2302 5133 12295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G479A	2						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	63.0	64.0		479,479	-4.2	0.0	2	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IL1R2	NM_004633.3,NM_173343.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	160/399,160/399	102632479	1,13005	2203	4300	6503	101998911	SO:0001583	missense	7850	exon4			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.479G>A	2.37:g.102632479G>A	ENSP00000330959:p.Arg160His		101998911	NM_173343	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648989	0.47362	0.0	1.16E-4	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.53	-4.17	0.03857	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.713730	0.02589	N	0.099709	T	0.61035	0.2315	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.50533	-0.8817	10	0.44086	T	0.13	.	6.9654	0.24619	0.5597:0.2593:0.181:0.0	.	160	P27930	IL1R2_HUMAN	H	160	ENSP00000330959:R160H;ENSP00000377066:R160H;ENSP00000408415:R160H;ENSP00000414611:R160H	ENSP00000330959:R160H	R	+	2	0	IL1R2	101998911	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-1.514000	0.02254	-0.453000	0.07076	0.655000	0.94253	CGT		0.388	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
IL1R2	7850	broad.mit.edu	37	2	102638706	102638706	+	Missense_Mutation	SNP	C	C	A	rs199970902		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102638706C>A	ENST00000332549.3	+	6	975	c.746C>A	c.(745-747)tCt>tAt	p.S249Y	IL1R2_ENST00000441002.1_Missense_Mutation_p.S249Y|IL1R2_ENST00000393414.2_Missense_Mutation_p.S249Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	249	Ig-like C2-type 3.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.S249Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATATCAGCTTCTCTGGGTAAG	0.502																																					p.S249Y	Pancreas(106;189 1628 2302 5133 12295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746A	2						.						150.0	146.0	147.0					2																	102638706		2203	4300	6503	102005138	SO:0001583	missense	7850	exon6			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.746C>A	2.37:g.102638706C>A	ENSP00000330959:p.Ser249Tyr		102005138	NM_173343	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.251353	0.59212	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000441002	T;T;T	0.14391	2.51;2.51;2.51	6.17	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.161907	0.40908	D	0.000985	T	0.32041	0.0816	M	0.62723	1.935	0.19575	N	0.999969	D	0.76494	0.999	D	0.65233	0.933	T	0.11941	-1.0567	10	0.72032	D	0.01	.	12.9168	0.58211	0.1622:0.8378:0.0:0.0	.	249	P27930	IL1R2_HUMAN	Y	249	ENSP00000330959:S249Y;ENSP00000377066:S249Y;ENSP00000414611:S249Y	ENSP00000330959:S249Y	S	+	2	0	IL1R2	102005138	0.991000	0.36638	0.187000	0.23214	0.122000	0.20287	4.026000	0.57232	1.602000	0.50124	0.655000	0.94253	TCT		0.502	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
IL1R1	3554	broad.mit.edu	37	2	102793014	102793014	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102793014C>T	ENST00000410023.1	+	12	1823	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S502L|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.S471L|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	502	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.S502L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ATGCCAGAATCGATTAAATTC	0.433																																					p.S502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	2						.						69.0	68.0	68.0					2																	102793014		2203	4300	6503	102159446	SO:0001583	missense	3554	exon11			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1505C>T	2.37:g.102793014C>T	ENSP00000386380:p.Ser502Leu		102159446	NM_000877	Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368480	0.82463	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.09163	3.01;3.01;3.01	5.61	5.61	0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.053759	0.85682	D	0.000000	T	0.34193	0.0889	M	0.66506	2.035	0.46131	D	0.998888	D;D	0.89917	0.999;1.0	D;D	0.74348	0.983;0.983	T	0.01920	-1.1247	10	0.87932	D	0	.	19.6512	0.95812	0.0:1.0:0.0:0.0	.	471;502	B8ZZW4;P14778	.;IL1R1_HUMAN	L	471;502;502	ENSP00000386776:S471L;ENSP00000386380:S502L;ENSP00000233946:S502L	ENSP00000233946:S502L	S	+	2	0	IL1R1	102159446	1.000000	0.71417	0.996000	0.52242	0.667000	0.39255	5.650000	0.67944	2.646000	0.89796	0.563000	0.77884	TCG		0.433	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
IL1RL2	8808	broad.mit.edu	37	2	102849559	102849559	+	Silent	SNP	C	C	T	rs377736284		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102849559C>T	ENST00000264257.2	+	10	1398	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	IL1RL2_ENST00000539491.1_Silent_p.F424F|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.F306F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	424	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.F424F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTTTATATTCGGCAGAGATG	0.453																																					p.F424F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1272T	2						.	C		0,4406		0,0,2203	94.0	92.0	93.0		1272	1.1	1.0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL1RL2	NM_003854.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		424/576	102849559	1,13005	2203	4300	6503	102215991	SO:0001819	synonymous_variant	8808	exon10			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1272C>T	2.37:g.102849559C>T			102215991	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	CCDS2056.1																																																																																				0.453	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
IL1RL2	8808	broad.mit.edu	37	2	102851532	102851532	+	Silent	SNP	C	C	T	rs200453765		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102851532C>T	ENST00000264257.2	+	11	1599	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	IL1RL2_ENST00000539491.1_Silent_p.I491I|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.I373I	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.I491I(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGAGAAAATCGAGGACTACA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21332	0.0		0.0	False		,,,				2504	0.0				p.I491I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473T	2						.						163.0	139.0	147.0					2																	102851532		2203	4300	6503	102217964	SO:0001819	synonymous_variant	8808	exon11			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1473C>T	2.37:g.102851532C>T			102217964	NM_003854	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	CCDS2056.1																																																																																				0.498	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854	
IL1RL1	9173	broad.mit.edu	37	2	102956625	102956625	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:102956625C>A	ENST00000233954.1	+	4	611	c.340C>A	c.(340-342)Cca>Aca	p.P114T	IL1RL1_ENST00000311734.2_Missense_Mutation_p.P114T|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P114T|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P114T	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	114	Ig-like C2-type 2.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.P114T(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGCAATGTTCCAGATTATTT	0.343																																					p.P114T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340A	2						.						75.0	73.0	73.0					2																	102956625		2203	4298	6501	102323057	SO:0001583	missense	9173	exon4			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.340C>A	2.37:g.102956625C>A	ENSP00000233954:p.Pro114Thr		102323057	NM_003856	A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725959	0.69074	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.78003	-0.16;2.09;-1.14;2.18	5.22	4.34	0.51931	Immunoglobulin-like (1);	1.958180	0.02740	N	0.116228	D	0.88980	0.6585	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.974	T	0.73297	-0.4027	10	0.31617	T	0.26	.	9.8715	0.41177	0.0:0.9056:0.0:0.0944	.	114;114	Q01638-2;Q01638	.;ILRL1_HUMAN	T	114	ENSP00000233954:P114T;ENSP00000377052:P114T;ENSP00000310371:P114T;ENSP00000386618:P114T	ENSP00000233954:P114T	P	+	1	0	IL1RL1	102323057	0.799000	0.28903	0.617000	0.29091	0.318000	0.28184	2.069000	0.41481	1.187000	0.43000	0.563000	0.77884	CCA		0.343	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
IL18R1	8809	broad.mit.edu	37	2	103003385	103003385	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:103003385C>A	ENST00000409599.1	+	9	1230	c.874C>A	c.(874-876)Cta>Ata	p.L292I	IL18R1_ENST00000233957.1_Missense_Mutation_p.L292I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	292	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.L292I(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGAAAGCAATCTAAATGTTTT	0.388																																					p.L292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C874A	2						.						88.0	92.0	91.0					2																	103003385		2203	4300	6503	102369817	SO:0001583	missense	8809	exon7			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.874C>A	2.37:g.103003385C>A	ENSP00000387211:p.Leu292Ile		102369817	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823506	0.32237	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.03301	3.98;3.98;3.98	4.54	1.67	0.24075	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.141766	0.32106	N	0.006574	T	0.09686	0.0238	M	0.78637	2.42	0.37377	D	0.911868	D;D	0.57899	0.981;0.981	P;P	0.56514	0.8;0.8	T	0.08576	-1.0715	10	0.54805	T	0.06	.	3.362	0.07190	0.2057:0.5807:0.0:0.2136	.	292;292	B7ZKV7;Q13478	.;IL18R_HUMAN	I	292	ENSP00000386663:L292I;ENSP00000387211:L292I;ENSP00000233957:L292I	ENSP00000233957:L292I	L	+	1	2	IL18R1	102369817	0.960000	0.32886	0.359000	0.25824	0.023000	0.10783	0.720000	0.25896	0.622000	0.30249	0.462000	0.41574	CTA		0.388	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
IL18RAP	8807	broad.mit.edu	37	2	103068314	103068314	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:103068314C>A	ENST00000264260.2	+	12	2062	c.1473C>A	c.(1471-1473)atC>atA	p.I491I	IL18RAP_ENST00000409369.1_Silent_p.I349I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I491I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCCAGTATCTTTGAACTAC	0.383																																					p.I491I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473A	2						.						131.0	134.0	133.0					2																	103068314		2203	4300	6503	102434746	SO:0001819	synonymous_variant	8807	exon12			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1473C>A	2.37:g.103068314C>A			102434746	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	CCDS2061.1																																																																																				0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
HPCAL1	3241	broad.mit.edu	37	2	10566860	10566860	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:10566860C>A	ENST00000381765.3	+	6	1021	c.495C>A	c.(493-495)tcC>tcA	p.S165S	HPCAL1_ENST00000307845.3_Silent_p.S165S	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	165	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S165S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GCAAACTGTCCTTGGAAGAAT	0.577																																					p.S165S	Pancreas(70;1384 1800 31595 46836)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C495A	2						.						135.0	136.0	136.0					2																	10566860		2203	4300	6503	10484311	SO:0001819	synonymous_variant	3241	exon6				CCDS1671.1	2p25.1	2013-01-10			ENSG00000115756	ENSG00000115756		"""EF-hand domain containing"""	5145	protein-coding gene	gene with protein product	"""visinin-like protein 3"", ""calcium-binding protein BDR-1"""	600207				8038222, 14739275	Standard	NM_002149		Approved	BDR1, HLP2, VILIP-3	uc031rnq.1	P37235	OTTHUMG00000090451	ENST00000381765.3:c.495C>A	2.37:g.10566860C>A			10484311	NM_134421	Q969S5	Silent	SNP	ENST00000381765.3	37	CCDS1671.1																																																																																				0.577	HPCAL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206898.1	NM_002149	
ODC1	4953	broad.mit.edu	37	2	10584280	10584280	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:10584280C>A	ENST00000234111.4	-	5	900	c.390G>T	c.(388-390)atG>atT	p.M130I	SNORA80B_ENST00000383906.1_RNA|ODC1_ENST00000405333.1_Missense_Mutation_p.M130I|ODC1_ENST00000446285.1_5'UTR	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	130					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.M130I(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CAAAAGTCATCATCTGGACTC	0.433																																					p.M130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G390T	2						.						205.0	215.0	212.0					2																	10584280		2203	4300	6503	10501731	SO:0001583	missense	4953	exon5				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.390G>T	2.37:g.10584280C>A	ENSP00000234111:p.Met130Ile		10501731	NM_002539	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290428	0.59976	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.39406	1.08;1.08	5.37	5.37	0.77165	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.036104	0.85682	D	0.000000	T	0.31482	0.0798	N	0.17082	0.46	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.04915	-1.0918	10	0.30078	T	0.28	.	19.1175	0.93348	0.0:1.0:0.0:0.0	.	130	P11926	DCOR_HUMAN	I	130;130;1	ENSP00000234111:M130I;ENSP00000385333:M130I	ENSP00000234111:M130I	M	-	3	0	ODC1	10501731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.929000	0.70096	2.508000	0.84585	0.655000	0.94253	ATG		0.433	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
MFSD9	84804	broad.mit.edu	37	2	103335029	103335029	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:103335029G>A	ENST00000258436.5	-	6	1318	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	425					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I425I(1)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GGAGAGGGGCGATGATGCGGC	0.647																																					p.I425I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	2						.						24.0	28.0	27.0					2																	103335029		2203	4299	6502	102701461	SO:0001819	synonymous_variant	84804	exon6				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1275C>T	2.37:g.103335029G>A			102701461	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	ENST00000258436.5	37	CCDS2063.1																																																																																				0.647	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
GPR45	11250	broad.mit.edu	37	2	105858422	105858422	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:105858422C>T	ENST00000258456.1	+	1	223	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S36F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTCAGGATCTCCTTGGCCATA	0.602																																					p.S36F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107T	2						.						125.0	116.0	119.0					2																	105858422		2203	4300	6503	105224854	SO:0001583	missense	11250	exon1			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.107C>T	2.37:g.105858422C>T	ENSP00000258456:p.Ser36Phe		105224854	NM_007227	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	2.387	-0.340674	0.05243	.	.	ENSG00000135973	ENST00000258456	T	0.35048	1.33	5.6	2.36	0.29203	.	0.429953	0.24231	N	0.040351	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22347	-1.0219	10	0.09843	T	0.71	-25.9393	4.8489	0.13528	0.0:0.5134:0.1887:0.2979	.	36	Q9Y5Y3	GPR45_HUMAN	F	36	ENSP00000258456:S36F	ENSP00000258456:S36F	S	+	2	0	GPR45	105224854	0.000000	0.05858	0.068000	0.19968	0.025000	0.11179	0.064000	0.14437	0.705000	0.31890	-0.379000	0.06801	TCC		0.602	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
GPR45	11250	broad.mit.edu	37	2	105858752	105858752	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:105858752G>A	ENST00000258456.1	+	1	553	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R146H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CTGAACCCGCGCAGGGCCAAG	0.657																																					p.R146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	2						.						43.0	41.0	42.0					2																	105858752		2203	4300	6503	105225184	SO:0001583	missense	11250	exon1			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.437G>A	2.37:g.105858752G>A	ENSP00000258456:p.Arg146His		105225184	NM_007227	Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	8.606	0.887929	0.17540	.	.	ENSG00000135973	ENST00000258456	T	0.42513	0.97	5.04	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.140424	0.46145	D	0.000301	T	0.27241	0.0668	L	0.39085	1.19	0.25947	N	0.982799	B	0.02656	0.0	B	0.06405	0.002	T	0.19224	-1.0312	10	0.12766	T	0.61	-18.5465	6.6289	0.22845	0.3166:0.0:0.6834:0.0	.	146	Q9Y5Y3	GPR45_HUMAN	H	146	ENSP00000258456:R146H	ENSP00000258456:R146H	R	+	2	0	GPR45	105225184	0.453000	0.25721	0.104000	0.21259	0.990000	0.78478	3.870000	0.56070	1.125000	0.41998	0.462000	0.41574	CGC		0.657	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
FHL2	2274	broad.mit.edu	37	2	105977855	105977855	+	Missense_Mutation	SNP	C	C	T	rs188279857	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:105977855C>T	ENST00000409807.1	-	6	1059	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Missense_Mutation_p.R242Q|FHL2_ENST00000409177.1_Missense_Mutation_p.R358Q|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Missense_Mutation_p.R242Q|FHL2_ENST00000393353.3_Missense_Mutation_p.R242Q|FHL2_ENST00000358129.4_Missense_Mutation_p.R242Q|FHL2_ENST00000408995.1_Missense_Mutation_p.R242Q|FHL2_ENST00000344213.4_Missense_Mutation_p.R352Q			Q14192	FHL2_HUMAN	four and a half LIM domains 2	242	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R242Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						ATGCCACTGCCGTTCCTCAAA	0.493													C|||	2	0.000399361	0.0	0.0	5008	,	,		20494	0.0		0.002	False		,,,				2504	0.0				p.R242Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	2						.						118.0	99.0	106.0					2																	105977855		2203	4300	6503	105344287	SO:0001583	missense	2274	exon8				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.725G>A	2.37:g.105977855C>T	ENSP00000386665:p.Arg242Gln		105344287	NM_201555	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	CCDS2070.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	23.1	4.379171	0.82682	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.48	4.6	0.57074	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.90212	0.6940	L	0.59436	1.845	0.80722	D	1	D;P;D;D	0.61080	0.989;0.94;0.98;0.989	P;P;P;P	0.60415	0.805;0.529;0.874;0.805	D	0.88879	0.3338	10	0.32370	T	0.25	.	14.5791	0.68274	0.0:0.9294:0.0:0.0706	.	242;242;352;242	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	Q	242;352;242;242;242;242;242;242	ENSP00000386892:R242Q;ENSP00000344266:R352Q;ENSP00000377021:R242Q;ENSP00000377020:R242Q;ENSP00000322909:R242Q;ENSP00000350846:R242Q;ENSP00000386665:R242Q;ENSP00000386633:R242Q	ENSP00000322909:R242Q	R	-	2	0	FHL2	105344287	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	7.729000	0.84864	1.439000	0.47511	0.650000	0.86243	CGG		0.493	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1		
UXS1	80146	broad.mit.edu	37	2	106761723	106761723	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:106761723C>A	ENST00000409501.3	-	6	437	c.380G>T	c.(379-381)aGa>aTa	p.R127I	UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.R132I|UXS1_ENST00000540130.1_Missense_Mutation_p.R70I			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	127					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)	p.R132I(1)|p.R127I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCCACGTTTCTCTTCCTGCC	0.537																																					p.R127I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G380T	2						.						104.0	104.0	104.0					2																	106761723		2028	4172	6200	106128155	SO:0001583	missense	80146	exon6			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.380G>T	2.37:g.106761723C>A	ENSP00000387019:p.Arg127Ile		106128155	NM_025076	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785905	0.90282	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90024	0.6885	L	0.35542	1.07	0.80722	D	1	P;P	0.44478	0.836;0.739	B;B	0.37888	0.169;0.26	D	0.90878	0.4751	10	0.66056	D	0.02	-9.9009	20.1381	0.98040	0.0:1.0:0.0:0.0	.	132;127	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	I	132;70;127;70	ENSP00000283148:R132I;ENSP00000438265:R70I;ENSP00000387019:R127I;ENSP00000399316:R70I	ENSP00000283148:R132I	R	-	2	0	UXS1	106128155	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.456000	0.80751	2.763000	0.94921	0.650000	0.86243	AGA		0.537	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
SNTG2	54221	broad.mit.edu	37	2	1094066	1094066	+	Missense_Mutation	SNP	G	G	A	rs200509062		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1094066G>A	ENST00000308624.5	+	4	424	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	99	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.V99I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CGTCCCTGTCGTCATATCAAA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18356	0.0		0.001	False		,,,				2504	0.0				p.V99I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	2						.						114.0	108.0	109.0					2																	1094066		1879	4107	5986	1084066	SO:0001583	missense	54221	exon4			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.295G>A	2.37:g.1094066G>A	ENSP00000311837:p.Val99Ile		1084066	NM_018968	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.78	3.696372	0.68386	.	.	ENSG00000172554	ENST00000308624	T	0.27720	1.65	4.42	4.42	0.53409	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.28054	0.825	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.39881	-0.9592	10	0.56958	D	0.05	.	14.8075	0.69968	0.0:0.0:1.0:0.0	.	99	Q9NY99	SNTG2_HUMAN	I	99	ENSP00000311837:V99I	ENSP00000311837:V99I	V	+	1	0	SNTG2	1084066	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	7.431000	0.80335	1.967000	0.57214	0.563000	0.77884	GTC		0.378	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
SLC5A7	60482	broad.mit.edu	37	2	108609438	108609438	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:108609438C>A	ENST00000264047.2	+	4	579	c.303C>A	c.(301-303)ttC>ttA	p.F101L	SLC5A7_ENST00000409059.1_Missense_Mutation_p.F101L|SLC5A7_ENST00000540517.1_5'UTR	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	101					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.F101L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGCCTGTTCTTTGCAAAAC	0.378																																					p.F101L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C303A	2						.						130.0	134.0	133.0					2																	108609438		2203	4300	6503	107975870	SO:0001583	missense	60482	exon4			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.303C>A	2.37:g.108609438C>A	ENSP00000264047:p.Phe101Leu		107975870	NM_021815	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680537	0.47886	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.84660	-1.88;-1.88	6.16	0.674	0.17946	.	0.044401	0.85682	D	0.000000	T	0.75406	0.3845	L	0.32530	0.975	0.80722	D	1	B	0.27316	0.175	B	0.33339	0.162	T	0.61787	-0.6991	10	0.25106	T	0.35	-20.7315	8.3349	0.32208	0.0:0.3047:0.0:0.6953	.	101	Q9GZV3	SC5A7_HUMAN	L	101	ENSP00000387346:F101L;ENSP00000264047:F101L	ENSP00000264047:F101L	F	+	3	2	SLC5A7	107975870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.856000	0.27818	0.171000	0.19730	0.650000	0.86243	TTC		0.378	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
GCC2	9648	broad.mit.edu	37	2	109086652	109086652	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109086652G>T	ENST00000309863.6	+	6	1581	c.867G>T	c.(865-867)aaG>aaT	p.K289N	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	289					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.K289N(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAAGTGAAAAGAACATCCAGA	0.353																																					p.K289N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867T	2						.						118.0	125.0	122.0					2																	109086652		2203	4299	6502	108453084	SO:0001583	missense	9648	exon6			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.867G>T	2.37:g.109086652G>T	ENSP00000307939:p.Lys289Asn		108453084	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	2.929	-0.221522	0.06061	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.33865	1.39	5.21	3.32	0.38043	.	0.376436	0.26620	N	0.023380	T	0.20251	0.0487	L	0.27053	0.805	0.09310	N	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.10660	-1.0620	10	0.23302	T	0.38	.	4.6153	0.12422	0.14:0.0:0.4992:0.3608	.	289	Q8IWJ2	GCC2_HUMAN	N	289;289;252;34	ENSP00000307939:K289N	ENSP00000307939:K289N	K	+	3	2	GCC2	108453084	0.894000	0.30519	0.123000	0.21794	0.506000	0.33950	1.201000	0.32259	1.275000	0.44379	0.467000	0.42956	AAG		0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
GCC2	9648	broad.mit.edu	37	2	109088435	109088435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109088435G>T	ENST00000309863.6	+	6	3364	c.2650G>T	c.(2650-2652)Gaa>Taa	p.E884*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	884					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E884*(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCAAGTTGAAGAAGTATCTCA	0.313																																					p.E884X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2650T	2						.						31.0	34.0	33.0					2																	109088435		2199	4292	6491	108454867	SO:0001587	stop_gained	9648	exon6			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2650G>T	2.37:g.109088435G>T	ENSP00000307939:p.Glu884*		108454867	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	39	7.797904	0.98495	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.45	5.45	0.79879	.	0.137625	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.9469	0.58376	0.0744:0.0:0.9256:0.0	.	.	.	.	X	884;847;628	.	ENSP00000307939:E884X	E	+	1	0	GCC2	108454867	1.000000	0.71417	0.993000	0.49108	0.755000	0.42902	4.754000	0.62191	2.728000	0.93425	0.650000	0.86243	GAA		0.313	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
GCC2	9648	broad.mit.edu	37	2	109116158	109116158	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109116158G>A	ENST00000309863.6	+	22	5646	c.4932G>A	c.(4930-4932)acG>acA	p.T1644T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1644	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.|Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.T1644T(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTATAAATACGATGTTGCAGC	0.423																																					p.T1644T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4932A	2						.						79.0	81.0	80.0					2																	109116158		2200	4278	6478	108482590	SO:0001819	synonymous_variant	9648	exon22			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4932G>A	2.37:g.109116158G>A			108482590	NM_181453	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.423	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
RANBP2	5903	broad.mit.edu	37	2	109369470	109369470	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109369470C>A	ENST00000283195.6	+	13	1898	c.1772C>A	c.(1771-1773)tCt>tAt	p.S591Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	591					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S591Y(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTCTTAATTCTTTTTATGAT	0.328																																					p.S591Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1772A	2						.						20.0	20.0	20.0					2																	109369470		1869	4053	5922	108735902	SO:0001583	missense	5903	exon13			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1772C>A	2.37:g.109369470C>A	ENSP00000283195:p.Ser591Tyr		108735902	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918403	0.73098	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.32272	1.46	4.33	4.33	0.51752	.	.	.	.	.	T	0.54919	0.1888	M	0.67953	2.075	0.45097	D	0.998113	D	0.89917	1.0	D	0.85130	0.997	T	0.60667	-0.7218	9	0.87932	D	0	-17.4731	17.3743	0.87387	0.0:1.0:0.0:0.0	.	591	P49792	RBP2_HUMAN	Y	591	ENSP00000283195:S591Y	ENSP00000283195:S591Y	S	+	2	0	RANBP2	108735902	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.367000	0.66127	2.388000	0.81334	0.650000	0.86243	TCT		0.328	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109379749	109379749	+	Silent	SNP	G	G	A	rs542711340	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109379749G>A	ENST00000283195.6	+	20	2880	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	918					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P918P(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATGCCTATCCGCAACAGATGC	0.453													g|||	3	0.000599042	0.0	0.0	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.0031				p.P918P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2754A	2						.						98.0	91.0	93.0					2																	109379749		2203	4300	6503	108746181	SO:0001819	synonymous_variant	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2754G>A	2.37:g.109379749G>A			108746181	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.453	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109380686	109380686	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109380686C>T	ENST00000283195.6	+	20	3817	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1231	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1231C(4)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTAAAATTCGCCTTCTAAT	0.383																																					p.R1231C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3691T	2						.						72.0	73.0	72.0					2																	109380686		2203	4300	6503	108747118	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3691C>T	2.37:g.109380686C>T	ENSP00000283195:p.Arg1231Cys		108747118	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132503	0.77662	.	.	ENSG00000153201	ENST00000283195	T	0.66638	-0.22	5.45	5.45	0.79879	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	D	0.89015	0.6595	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92728	0.6197	9	0.87932	D	0	-10.0827	19.3035	0.94153	0.0:1.0:0.0:0.0	.	1231	P49792	RBP2_HUMAN	C	1231	ENSP00000283195:R1231C	ENSP00000283195:R1231C	R	+	1	0	RANBP2	108747118	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.814000	0.86154	2.535000	0.85469	0.650000	0.86243	CGC		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109380930	109380930	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109380930T>C	ENST00000283195.6	+	20	4061	c.3935T>C	c.(3934-3936)gTa>gCa	p.V1312A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1312					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V1312A(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGAACAAATGTAGCCATGGCG	0.393																																					p.V1312A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3935C	2						.						64.0	66.0	65.0					2																	109380930		2202	4299	6501	108747362	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3935T>C	2.37:g.109380930T>C	ENSP00000283195:p.Val1312Ala		108747362	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	2.752	-0.259913	0.05791	.	.	ENSG00000153201	ENST00000283195	T	0.26810	1.71	5.37	-1.13	0.09775	.	.	.	.	.	T	0.11750	0.0286	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31194	-0.9952	9	0.27785	T	0.31	0.9687	5.9581	0.19286	0.0:0.363:0.1781:0.4589	.	1312	P49792	RBP2_HUMAN	A	1312	ENSP00000283195:V1312A	ENSP00000283195:V1312A	V	+	2	0	RANBP2	108747362	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.879000	0.04188	-0.192000	0.10432	0.528000	0.53228	GTA		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109382902	109382902	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109382902G>T	ENST00000283195.6	+	20	6033	c.5907G>T	c.(5905-5907)aaG>aaT	p.K1969N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1969					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.K1969N(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAATTTCAAGGGATTTTCAG	0.378																																					p.K1969N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5907T	2						.						63.0	76.0	72.0					2																	109382902		1991	3965	5956	108749334	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5907G>T	2.37:g.109382902G>T	ENSP00000283195:p.Lys1969Asn		108749334	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068498	0.36470	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29397	1.57	5.75	1.45	0.22620	.	.	.	.	.	T	0.41213	0.1149	M	0.66939	2.045	0.27496	N	0.952146	D	0.63880	0.993	P	0.53954	0.738	T	0.24190	-1.0167	9	0.54805	T	0.06	-24.7365	8.0476	0.30559	0.5186:0.0:0.4814:0.0	.	1969	P49792	RBP2_HUMAN	N	993;1969	ENSP00000283195:K1969N	ENSP00000283195:K1969N	K	+	3	2	RANBP2	108749334	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.369000	0.34227	0.367000	0.24454	0.557000	0.71058	AAG		0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109382974	109382974	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109382974C>T	ENST00000283195.6	+	20	6105	c.5979C>T	c.(5977-5979)tcC>tcT	p.S1993S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1993					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1993S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAACACTTCCGGTGACTTTG	0.388																																					p.S1993S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5979T	2						.																																			108749406	SO:0001819	synonymous_variant	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5979C>T	2.37:g.109382974C>T			108749406	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	CCDS2079.1																																																																																				0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109384127	109384127	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109384127T>G	ENST00000283195.6	+	20	7258	c.7132T>G	c.(7132-7134)Tta>Gta	p.L2378V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2378	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L2378V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGACCAAGTATTAAAACTTTG	0.363																																					p.L2378V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7132G	2						.						72.0	83.0	79.0					2																	109384127		2114	4079	6193	108750559	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7132T>G	2.37:g.109384127T>G	ENSP00000283195:p.Leu2378Val		108750559	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637627	0.47049	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.53206	0.63	5.47	3.1	0.35709	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.69548	0.3123	M	0.92077	3.27	0.28840	N	0.896647	D	0.60575	0.988	D	0.64776	0.929	T	0.62807	-0.6776	9	0.48119	T	0.1	-19.5036	6.7994	0.23742	0.0:0.2758:0.0:0.7242	.	2378	P49792	RBP2_HUMAN	V	1402;2378	ENSP00000283195:L2378V	ENSP00000283195:L2378V	L	+	1	2	RANBP2	108750559	0.994000	0.37717	0.926000	0.36857	0.928000	0.56348	2.662000	0.46766	1.026000	0.39733	0.254000	0.18369	TTA		0.363	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
RANBP2	5903	broad.mit.edu	37	2	109384299	109384299	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109384299T>G	ENST00000283195.6	+	20	7430	c.7304T>G	c.(7303-7305)aTt>aGt	p.I2435S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2435	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I2435S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAAGAAAATTTTTGATGAA	0.398																																					p.I2435S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7304G	2						.						49.0	56.0	54.0					2																	109384299		1380	2844	4224	108750731	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7304T>G	2.37:g.109384299T>G	ENSP00000283195:p.Ile2435Ser		108750731	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.303015	0.23736	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.42513	0.97	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.41926	0.1180	L	0.37850	1.14	0.27381	N	0.955413	P	0.43169	0.8	P	0.53266	0.722	T	0.23261	-1.0193	9	0.11794	T	0.64	-17.7937	7.7825	0.29072	0.0:0.0722:0.1389:0.7889	.	2435	P49792	RBP2_HUMAN	S	1459;2435	ENSP00000283195:I2435S	ENSP00000283195:I2435S	I	+	2	0	RANBP2	108750731	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.014000	0.57145	2.209000	0.71365	0.254000	0.18369	ATT		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
CCDC138	165055	broad.mit.edu	37	2	109404505	109404505	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:109404505T>G	ENST00000295124.4	+	2	171	c.111T>G	c.(109-111)ttT>ttG	p.F37L	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.F37L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	37								p.F37L(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TTTCAAATTTTTATCAGTCTA	0.294																																					p.F37L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T111G	2						.						22.0	25.0	24.0					2																	109404505		2159	4290	6449	108770937	SO:0001583	missense	165055	exon2			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.111T>G	2.37:g.109404505T>G	ENSP00000295124:p.Phe37Leu		108770937	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-2.013712	0.00422	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.90385	-2.66;-2.66	3.88	3.88	0.44766	.	0.735663	0.12345	N	0.477123	D	0.83138	0.5189	L	0.44542	1.39	0.20196	N	0.99993	B;B	0.28291	0.206;0.026	B;B	0.24394	0.053;0.015	T	0.68595	-0.5367	10	0.09590	T	0.72	-0.0232	6.7753	0.23617	0.2084:0.0:0.0:0.7916	.	37;37	Q96M89-2;Q96M89	.;CC138_HUMAN	L	37	ENSP00000411800:F37L;ENSP00000295124:F37L	ENSP00000295124:F37L	F	+	3	2	CCDC138	108770937	0.998000	0.40836	0.770000	0.31555	0.007000	0.05969	2.806000	0.47947	1.975000	0.57531	0.533000	0.62120	TTT		0.294	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	
SEPT10	151011	broad.mit.edu	37	2	110303730	110303730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:110303730C>A	ENST00000397712.2	-	10	1624	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	SEPT10_ENST00000356688.4_Nonsense_Mutation_p.E416*|SEPT10_ENST00000545389.1_Nonsense_Mutation_p.E249*|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000437928.1_Nonsense_Mutation_p.E401*|SEPT10_ENST00000397714.2_Nonsense_Mutation_p.E393*|SEPT10_ENST00000334001.6_Nonsense_Mutation_p.E283*|SEPT10_ENST00000415095.1_Nonsense_Mutation_p.E416*	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	416					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.E393*(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GCAATTATTTCTTCTTCCAAA	0.423											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E393X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1177T	2						.						104.0	104.0	104.0					2																	110303730		1855	4080	5935	109661019	SO:0001587	stop_gained	151011	exon9			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1246G>T	2.37:g.110303730C>A	ENSP00000380824:p.Glu416*	1426	109661019	NM_178584	B3KRQ9|Q86VP5|Q9HAH6	Nonsense_Mutation	SNP	ENST00000397712.2	37	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651836	0.67472	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	.	.	.	5.87	5.87	0.94306	.	0.161766	0.42548	D	0.000689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0453	0.93018	0.0:1.0:0.0:0.0	.	.	.	.	X	416;416;393;283;401;249;416	.	ENSP00000334234:E283X	E	-	1	0	SEPT10	109661019	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	6.953000	0.75995	2.797000	0.96272	0.650000	0.86243	GAA		0.423	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	
SEPT10	151011	broad.mit.edu	37	2	110325453	110325453	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:110325453A>G	ENST00000397712.2	-	6	1079	c.701T>C	c.(700-702)gTc>gCc	p.V234A	SEPT10_ENST00000356688.4_Missense_Mutation_p.V234A|SEPT10_ENST00000545389.1_Missense_Mutation_p.V67A|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000437928.1_Missense_Mutation_p.V219A|SEPT10_ENST00000397714.2_Missense_Mutation_p.V211A|SEPT10_ENST00000334001.6_Missense_Mutation_p.V101A|SEPT10_ENST00000415095.1_Missense_Mutation_p.V234A	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	234	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.V211A(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GTATATCTGGACGCCATTGCT	0.398																																					p.V211A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T632C	2						.						125.0	116.0	119.0					2																	110325453		1979	4182	6161	109682742	SO:0001583	missense	151011	exon5			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.701T>C	2.37:g.110325453A>G	ENSP00000380824:p.Val234Ala		109682742	NM_178584	B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680226	0.88542	.	.	ENSG00000186522	ENST00000352314;ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095;ENST00000493445;ENST00000423520	T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.77	4.62	0.57501	.	0.179884	0.37483	N	0.002061	T	0.76716	0.4026	H	0.94964	3.605	0.52099	D	0.999949	P;D;P;P;P;D	0.60160	0.609;0.958;0.956;0.929;0.554;0.987	P;P;P;P;B;P	0.61874	0.524;0.747;0.79;0.791;0.389;0.895	T	0.82325	-0.0513	10	0.87932	D	0	.	11.8468	0.52389	0.9316:0.0:0.0684:0.0	.	101;67;234;234;211;234	B7Z371;B7Z277;A8K7M3;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;.;SEP10_HUMAN	A	192;234;234;211;101;219;67;234;41;67	ENSP00000349116:V234A;ENSP00000380824:V234A;ENSP00000380826:V211A;ENSP00000334234:V101A;ENSP00000407790:V219A;ENSP00000439364:V67A;ENSP00000396728:V234A;ENSP00000445707:V41A;ENSP00000416597:V67A	ENSP00000334234:V101A	V	-	2	0	SEPT10	109682742	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	8.780000	0.91799	1.111000	0.41721	0.533000	0.62120	GTC		0.398	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710	
NPHP1	4867	broad.mit.edu	37	2	110926031	110926031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:110926031C>A	ENST00000393272.3	-	6	719	c.622G>T	c.(622-624)Gag>Tag	p.E208*	NPHP1_ENST00000445609.2_Nonsense_Mutation_p.E208*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.E146*|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.E208*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.E208*	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	208	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.E208*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGACTAACCTCTAGGTAGGTT	0.363																																					p.E208X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G622T	2						.						132.0	133.0	132.0					2																	110926031		2203	4300	6503	110283320	SO:0001587	stop_gained	4867	exon6			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.622G>T	2.37:g.110926031C>A	ENSP00000376953:p.Glu208*		110283320	NM_001128178	O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649267	0.67358	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	.	.	.	5.41	4.54	0.55810	.	0.228513	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-20.6403	7.6624	0.28410	0.0:0.7464:0.1655:0.0882	.	.	.	.	X	208;208;208;146;208	.	ENSP00000313169:E208X	E	-	1	0	NPHP1	110283320	0.970000	0.33590	0.997000	0.53966	0.277000	0.26821	0.797000	0.26999	1.285000	0.44548	0.563000	0.77884	GAG		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
PQLC3	130814	broad.mit.edu	37	2	11304376	11304376	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11304376G>T	ENST00000295083.3	+	4	518	c.343G>T	c.(343-345)Gac>Tac	p.D115Y	PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Missense_Mutation_p.D115Y|PQLC3_ENST00000441908.2_Missense_Mutation_p.D115Y	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	115						integral component of membrane (GO:0016021)		p.D115Y(1)		kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGGATCATAGACCTGGCCAT	0.418																																					p.D115Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G343T	2						.						180.0	137.0	152.0					2																	11304376		2203	4300	6503	11221827	SO:0001583	missense	130814	exon4			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.343G>T	2.37:g.11304376G>T	ENSP00000295083:p.Asp115Tyr		11221827	NM_152391	B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	CCDS1679.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153522	0.78114	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	D;T;D;D	0.91996	-2.24;-0.63;-2.24;-2.95	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96056	0.8715	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.95792	0.8825	10	0.52906	T	0.07	-21.8814	16.697	0.85338	0.0:0.0:1.0:0.0	.	115;115	B4DWA4;Q8N755	.;PQLC3_HUMAN	Y	138;115;115;115	ENSP00000410430:D138Y;ENSP00000295083:D115Y;ENSP00000406148:D115Y;ENSP00000384129:D115Y	ENSP00000295083:D115Y	D	+	1	0	PQLC3	11221827	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	7.804000	0.85993	2.669000	0.90835	0.561000	0.74099	GAC		0.418	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391	
ACOXL	55289	broad.mit.edu	37	2	111556225	111556225	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:111556225G>T	ENST00000389811.4	+	6	608	c.384G>T	c.(382-384)aaG>aaT	p.K128N	ACOXL_ENST00000439055.1_Missense_Mutation_p.K128N|ACOXL_ENST00000340561.4_Missense_Mutation_p.K128N			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	128					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)	p.K128N(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGCGGAGAAGATGTATATTG	0.438																																					p.K128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	2						.						147.0	139.0	141.0					2																	111556225		1919	4138	6057	111272696	SO:0001583	missense	55289	exon6				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.384G>T	2.37:g.111556225G>T	ENSP00000374461:p.Lys128Asn		111272696	NM_001142807	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37		.	.	.	.	.	.	.	.	.	.	G	14.98	2.697975	0.48307	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561	D;D;D	0.99695	-6.43;-6.43;-6.43	5.22	5.22	0.72569	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.64402	D	0.000001	D	0.99880	0.9943	H	0.99712	4.72	0.42590	D	0.99324	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.96187	0.9135	10	0.87932	D	0	-36.6461	16.2818	0.82694	0.0:0.0:1.0:0.0	.	128;128;128	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	N	128	ENSP00000374461:K128N;ENSP00000407761:K128N;ENSP00000343717:K128N	ENSP00000343717:K128N	K	+	3	2	ACOXL	111272696	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	1.975000	0.40569	2.438000	0.82558	0.650000	0.86243	AAG		0.438	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
ANAPC1	64682	broad.mit.edu	37	2	112552462	112552462	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:112552462C>T	ENST00000341068.3	-	35	5078	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1436					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.E1436K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ATACTATTTTCTCTTATAATC	0.308																																					p.E1436K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4306A	2						.						6.0	5.0	5.0					2																	112552462		1843	3890	5733	112268933	SO:0001583	missense	64682	exon35			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.4306G>A	2.37:g.112552462C>T	ENSP00000339109:p.Glu1436Lys		112268933	NM_022662	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.859311|1.859311	0.32884|0.32884	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	T|T	0.27256|0.26957	1.68|1.7	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.156567|.	0.26631|.	U|.	0.023301|.	T|T	0.31513|0.31513	0.0799|0.0799	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999994|0.999994	B|.	0.15930|.	0.015|.	B|.	0.14023|.	0.01|.	T|T	0.01621|0.01621	-1.1310|-1.1310	10|6	0.08599|.	T|.	0.76|.	-17.8806|-17.8806	18.7416|18.7416	0.91775|0.91775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1436|.	Q9H1A4|.	APC1_HUMAN|.	K|K	1436|970	ENSP00000339109:E1436K|ENSP00000396695:R970K	ENSP00000339109:E1436K|.	E|R	-|-	1|2	0|0	ANAPC1|ANAPC1	112268933|112268933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.575000|5.575000	0.67430|0.67430	2.513000|2.513000	0.84729|0.84729	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.308	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
ROCK2	9475	broad.mit.edu	37	2	11334443	11334443	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11334443G>A	ENST00000315872.6	-	29	3995	c.3547C>T	c.(3547-3549)Ctt>Ttt	p.L1183F	ROCK2_ENST00000401753.1_Missense_Mutation_p.L940F	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1183	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.L1183F(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCATAGAAAAGAATCTTCTTA	0.254																																					p.L1183F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3547T	2						.						85.0	83.0	84.0					2																	11334443		1794	4040	5834	11251894	SO:0001583	missense	9475	exon29			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3547C>T	2.37:g.11334443G>A	ENSP00000317985:p.Leu1183Phe		11251894	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749802	0.89753	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.77489	-1.1;-1.1	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	N	0.25426	0.745	0.80722	D	1	P	0.43701	0.815	P	0.47015	0.534	T	0.67562	-0.5639	10	0.13470	T	0.59	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	1183	O75116	ROCK2_HUMAN	F	1183;940;541	ENSP00000317985:L1183F;ENSP00000385509:L940F	ENSP00000317985:L1183F	L	-	1	0	ROCK2	11251894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.749000	0.94314	0.460000	0.39030	CTT		0.254	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
ROCK2	9475	broad.mit.edu	37	2	11338840	11338840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11338840C>A	ENST00000315872.6	-	24	3419	c.2971G>T	c.(2971-2973)Gaa>Taa	p.E991*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.E748*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	991	RHOA binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.E991*(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTATTTAATTCTTCTTTCTCA	0.284																																					p.E991X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2971T	2						.						61.0	56.0	58.0					2																	11338840		1807	4065	5872	11256291	SO:0001587	stop_gained	9475	exon24			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2971G>T	2.37:g.11338840C>A	ENSP00000317985:p.Glu991*		11256291	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	45	11.991441	0.99625	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.5	5.5	0.81552	.	0.047611	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	19.3897	0.94576	0.0:1.0:0.0:0.0	.	.	.	.	X	991;748;349	.	ENSP00000317985:E991X	E	-	1	0	ROCK2	11256291	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.477000	0.81069	2.591000	0.87537	0.591000	0.81541	GAA		0.284	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
ROCK2	9475	broad.mit.edu	37	2	11342198	11342198	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11342198C>T	ENST00000315872.6	-	21	3047	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	ROCK2_ENST00000401753.1_Missense_Mutation_p.E624K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	867					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.E867K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTTCTGCTTCGAGCTGATCC	0.353																																					p.E867K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2599A	2						.						203.0	183.0	190.0					2																	11342198		1882	4120	6002	11259649	SO:0001583	missense	9475	exon21			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2599G>A	2.37:g.11342198C>T	ENSP00000317985:p.Glu867Lys		11259649	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827035	0.96996	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.67865	-0.29;0.6	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.81413	-0.0944	10	0.38643	T	0.18	.	20.0749	0.97738	0.0:1.0:0.0:0.0	.	867	O75116	ROCK2_HUMAN	K	867;624;225	ENSP00000317985:E867K;ENSP00000385509:E624K	ENSP00000317985:E867K	E	-	1	0	ROCK2	11259649	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.818000	0.86416	2.759000	0.94783	0.591000	0.81541	GAA		0.353	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
MERTK	10461	broad.mit.edu	37	2	112751865	112751865	+	Missense_Mutation	SNP	G	G	A	rs202242962		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:112751865G>A	ENST00000295408.4	+	9	1591	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	MERTK_ENST00000409780.1_Missense_Mutation_p.R269Q|MERTK_ENST00000421804.2_Missense_Mutation_p.R445Q			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	445	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R445Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AATGGCAGCCGAGCTCGGATC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		18673	0.001		0.0	False		,,,				2504	0.0				p.R445Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334A	2						.						119.0	117.0	118.0					2																	112751865		2203	4300	6503	112468336	SO:0001583	missense	10461	exon9			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1334G>A	2.37:g.112751865G>A	ENSP00000295408:p.Arg445Gln		112468336	NM_006343	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.851	-0.464991	0.04476	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.53206	0.63;0.63;0.63	4.95	-9.89	0.00464	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.361860	0.02365	N	0.077284	T	0.26846	0.0657	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12837	-1.0532	10	0.12103	T	0.63	0.0	10.0875	0.42428	0.2231:0.0:0.6026:0.1742	.	445	Q12866	MERTK_HUMAN	Q	445;445;40;269	ENSP00000295408:R445Q;ENSP00000389152:R445Q;ENSP00000387277:R269Q	ENSP00000295408:R445Q	R	+	2	0	MERTK	112468336	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.075000	0.00616	-2.863000	0.00326	-1.423000	0.01107	CGA		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
FBLN7	129804	broad.mit.edu	37	2	112917277	112917277	+	Missense_Mutation	SNP	C	C	A	rs140000827		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:112917277C>A	ENST00000331203.2	+	2	371	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	FBLN7_ENST00000409903.1_Missense_Mutation_p.L34I|FBLN7_ENST00000409450.3_Missense_Mutation_p.L34I|FBLN7_ENST00000409667.3_Missense_Mutation_p.L34I|FBLN7_ENST00000472377.1_3'UTR	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	34					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L34I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACAGCAGCTCCTCTCGGCCAT	0.612																																					p.L34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100A	2						.						48.0	48.0	48.0					2																	112917277		2203	4300	6503	112633748	SO:0001583	missense	129804	exon2				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.100C>A	2.37:g.112917277C>A	ENSP00000331411:p.Leu34Ile		112633748	NM_153214	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250344	0.59212	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	D;T;T;T	0.81499	-1.5;-1.43;1.32;-1.48	5.48	4.6	0.57074	.	0.071355	0.64402	D	0.000019	T	0.79753	0.4500	M	0.64997	1.995	0.39145	D	0.962115	P;D;B;B	0.52996	0.952;0.957;0.005;0.129	P;B;B;B	0.45310	0.476;0.439;0.006;0.043	T	0.79347	-0.1841	10	0.27082	T	0.32	-41.4108	14.6821	0.69026	0.1466:0.8534:0.0:0.0	.	34;34;34;34	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	I	34	ENSP00000331411:L34I;ENSP00000386295:L34I;ENSP00000386822:L34I;ENSP00000387000:L34I	ENSP00000331411:L34I	L	+	1	0	FBLN7	112633748	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.759000	0.55227	1.315000	0.45114	-0.270000	0.10280	CTC		0.612	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
ROCK2	9475	broad.mit.edu	37	2	11351874	11351874	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11351874C>A	ENST00000315872.6	-	18	2584	c.2136G>T	c.(2134-2136)aaG>aaT	p.K712N	ROCK2_ENST00000401753.1_Missense_Mutation_p.K469N	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	712	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.K712N(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTAGTCGTGCCTTTGTGGCCT	0.373																																					p.K712N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2136T	2						.						234.0	210.0	218.0					2																	11351874		1888	4107	5995	11269325	SO:0001583	missense	9475	exon18			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2136G>T	2.37:g.11351874C>A	ENSP00000317985:p.Lys712Asn		11269325	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037555	0.75617	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.64438	-0.1;0.93	5.85	4.73	0.59995	.	0.047909	0.85682	D	0.000000	T	0.68412	0.2998	M	0.70275	2.135	0.53688	D	0.999973	D	0.52996	0.957	P	0.52823	0.71	T	0.67719	-0.5598	10	0.39692	T	0.17	.	9.6935	0.40143	0.0:0.0841:0.0:0.9159	.	712	O75116	ROCK2_HUMAN	N	712;469;70	ENSP00000317985:K712N;ENSP00000385509:K469N	ENSP00000317985:K712N	K	-	3	2	ROCK2	11269325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.560000	0.36331	1.090000	0.41315	0.655000	0.94253	AAG		0.373	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
FBLN7	129804	broad.mit.edu	37	2	112922646	112922646	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:112922646G>A	ENST00000331203.2	+	3	575	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FBLN7_ENST00000409903.1_Missense_Mutation_p.E102K|FBLN7_ENST00000409450.3_Missense_Mutation_p.E102K|FBLN7_ENST00000409667.3_Missense_Mutation_p.E102K|FBLN7_ENST00000472377.1_3'UTR	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	102	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E102K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGTGGATCACGAAGTCCATTT	0.577																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	2						.						89.0	86.0	87.0					2																	112922646		2203	4300	6503	112639117	SO:0001583	missense	129804	exon3				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.304G>A	2.37:g.112922646G>A	ENSP00000331411:p.Glu102Lys		112639117	NM_153214	A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427845	0.96131	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72843	0.3511	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;1.0;0.999	T	0.65463	-0.6162	10	0.06625	T	0.88	-17.8603	18.3917	0.90485	0.0:0.0:1.0:0.0	.	102;102;102;102	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	K	102	ENSP00000331411:E102K;ENSP00000386295:E102K;ENSP00000386822:E102K;ENSP00000387000:E102K	ENSP00000331411:E102K	E	+	1	0	FBLN7	112639117	1.000000	0.71417	0.957000	0.39632	0.909000	0.53808	8.303000	0.89955	2.649000	0.89929	0.655000	0.94253	GAA		0.577	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214	
ZC3H6	376940	broad.mit.edu	37	2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							metal ion binding (GO:0046872)	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368																																					p.R227Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G680A	2						.						74.0	77.0	76.0					2																	113069447		1837	4084	5921	112785918	SO:0001583	missense	376940	exon5			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.680G>A	2.37:g.113069447G>A	ENSP00000386764:p.Arg227Gln		112785918	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437117	0.83885	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15718	2.4;2.4	4.98	4.98	0.66077	.	0.414610	0.23752	N	0.044912	T	0.29028	0.0721	M	0.71581	2.175	0.33744	D	0.619769	D	0.62365	0.991	P	0.51895	0.683	T	0.44847	-0.9301	10	0.49607	T	0.09	-11.0204	10.8063	0.46520	0.0887:0.0:0.9113:0.0	.	227	P61129	ZC3H6_HUMAN	Q	227;227;204	ENSP00000386764:R227Q;ENSP00000340298:R227Q	ENSP00000340298:R227Q	R	+	2	0	ZC3H6	112785918	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.071000	0.57556	2.473000	0.83533	0.462000	0.41574	CGA		0.368	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
ZC3H6	376940	broad.mit.edu	37	2	113089379	113089379	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113089379G>T	ENST00000409871.1	+	12	3285	c.2884G>T	c.(2884-2886)Gat>Tat	p.D962Y	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.D962Y	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	962							metal ion binding (GO:0046872)	p.D962Y(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TAAATTAGGAGATCCTAGACT	0.408																																					p.D962Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2884T	2						.						71.0	67.0	69.0					2																	113089379		1855	4092	5947	112805850	SO:0001583	missense	376940	exon12			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2884G>T	2.37:g.113089379G>T	ENSP00000386764:p.Asp962Tyr		112805850	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806658	0.70682	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.18960	2.18;2.18	5.79	5.79	0.91817	.	0.485469	0.23779	N	0.044659	T	0.51787	0.1695	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52426	-0.8577	10	0.87932	D	0	-21.298	20.0401	0.97581	0.0:0.0:1.0:0.0	.	962	P61129	ZC3H6_HUMAN	Y	962	ENSP00000386764:D962Y;ENSP00000340298:D962Y	ENSP00000340298:D962Y	D	+	1	0	ZC3H6	112805850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.591000	0.81541	GAT		0.408	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
POLR1B	84172	broad.mit.edu	37	2	113332763	113332763	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113332763G>T	ENST00000263331.5	+	15	3445	c.2865G>T	c.(2863-2865)gaG>gaT	p.E955D	POLR1B_ENST00000541869.1_Missense_Mutation_p.E993D|POLR1B_ENST00000417433.2_Missense_Mutation_p.E899D|POLR1B_ENST00000409894.3_Missense_Mutation_p.E772D|POLR1B_ENST00000537335.1_Missense_Mutation_p.E744D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	955					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.E955D(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCTCAGAGGAGAACTCGGCCT	0.488																																					p.E899D	Ovarian(16;256 576 9537 23969 41147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2697T	2						.						98.0	102.0	101.0					2																	113332763		2203	4300	6503	113049234	SO:0001583	missense	84172	exon14			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2865G>T	2.37:g.113332763G>T	ENSP00000263331:p.Glu955Asp		113049234	NM_001137604	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557114	0.27827	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000536096	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.59	5.59	0.84812	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.140757	0.64402	D	0.000007	T	0.51770	0.1694	N	0.11427	0.14	0.51482	D	0.999926	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.001;0.003	T	0.50189	-0.8857	10	0.07482	T	0.82	-25.1426	11.8098	0.52175	0.081:0.0:0.919:0.0	.	993;772;899;955	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	D	955;993;772;744;899;314	ENSP00000263331:E955D;ENSP00000444136:E993D;ENSP00000387143:E772D;ENSP00000437914:E744D;ENSP00000405358:E899D	ENSP00000263331:E955D	E	+	3	2	POLR1B	113049234	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.185000	0.50934	2.622000	0.88805	0.563000	0.77884	GAG		0.488	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014	
CKAP2L	150468	broad.mit.edu	37	2	113498583	113498583	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113498583C>T	ENST00000302450.6	-	8	1902	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	CKAP2L_ENST00000541405.1_Splice_Site_p.G443G|NT5DC4_ENST00000327581.4_Intron	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	608						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G608G(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CAGAAGTAATCCCTGTGTATG	0.343																																					p.G608G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1824A	2						.						131.0	120.0	123.0					2																	113498583		2203	4300	6503	113215054	SO:0001630	splice_region_variant	150468	exon8			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1823-1G>A	2.37:g.113498583C>T			113215054	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	CCDS2100.1																																																																																				0.343	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	Silent
CKAP2L	150468	broad.mit.edu	37	2	113509978	113509978	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113509978T>A	ENST00000302450.6	-	5	1546	c.1468A>T	c.(1468-1470)Aga>Tga	p.R490*	CKAP2L_ENST00000541405.1_Nonsense_Mutation_p.R325*	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	490						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R490*(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ATTACTTTTCTTTTTGTTTTA	0.333																																					p.R490X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1468T	2						.						100.0	101.0	101.0					2																	113509978		2202	4299	6501	113226449	SO:0001587	stop_gained	150468	exon5			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1468A>T	2.37:g.113509978T>A	ENSP00000305204:p.Arg490*		113226449	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Nonsense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	T	33	5.273185	0.95429	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	.	.	.	5.51	5.51	0.81932	.	0.485095	0.23309	N	0.049591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3616	13.5607	0.61788	0.0:0.0:0.0:1.0	.	.	.	.	X	325;490	.	ENSP00000305204:R490X	R	-	1	2	CKAP2L	113226449	1.000000	0.71417	0.996000	0.52242	0.117000	0.20001	4.498000	0.60373	2.093000	0.63338	0.477000	0.44152	AGA		0.333	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
IL1B	3553	broad.mit.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113591100C>T	ENST00000263341.2	-	4	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	51					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|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 prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.R51Q(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GTCGGAGATTCGTAGCTGGAT	0.627																																					p.R51Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152A	2						.						100.0	94.0	96.0					2																	113591100		2203	4300	6503	113307571	SO:0001583	missense	3553	exon4			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.152G>A	2.37:g.113591100C>T	ENSP00000263341:p.Arg51Gln		113307571	NM_000576	Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	1.023	-0.684356	0.03353	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.72	0.872	0.19113	Interleukin-1 propeptide (1);	0.810801	0.11915	N	0.517278	T	0.09774	0.0240	N	0.00395	-1.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35025	-0.9805	10	0.02654	T	1	-0.5004	6.853	0.24024	0.0:0.2849:0.0:0.7151	.	51	P01584	IL1B_HUMAN	Q	51	ENSP00000263341:R51Q;ENSP00000407219:R51Q;ENSP00000409680:R51Q;ENSP00000400854:R51Q	ENSP00000263341:R51Q	R	-	2	0	IL1B	113307571	0.040000	0.19996	0.031000	0.17742	0.013000	0.08279	0.695000	0.25527	0.067000	0.16545	-1.300000	0.01332	CGA		0.627	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576	
IL36RN	26525	broad.mit.edu	37	2	113818507	113818507	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:113818507C>A	ENST00000393200.2	+	3	269	c.108C>A	c.(106-108)gtC>gtA	p.V36V	IL36RN_ENST00000346807.3_Silent_p.V36V	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	36					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)	p.V36V(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGGAAGGTCATTAAAGGTT	0.478																																					p.V36V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108A	2						.						96.0	83.0	88.0					2																	113818507		2203	4300	6503	113534978	SO:0001819	synonymous_variant	26525	exon3			AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.108C>A	2.37:g.113818507C>A			113534978	NM_012275	A8K2I4|Q56AT9|Q7RTZ6	Silent	SNP	ENST00000393200.2	37	CCDS2111.1																																																																																				0.478	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170	
FOXD4L1	200350	broad.mit.edu	37	2	114257173	114257173	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:114257173G>A	ENST00000306507.5	+	1	513	c.340G>A	c.(340-342)Gcg>Acg	p.A114T		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	114					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A114T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CTCGTACATCGCGCTCATCAC	0.647																																					p.A114T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	2						.						32.0	44.0	40.0					2																	114257173		2198	4273	6471	113973643	SO:0001583	missense	200350	exon1			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.340G>A	2.37:g.114257173G>A	ENSP00000302756:p.Ala114Thr		113973643	NM_012184	B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	19.25	3.791138	0.70452	.	.	ENSG00000184492	ENST00000306507	D	0.95554	-3.74	2.85	2.85	0.33270	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.33631	U	0.004718	D	0.96580	0.8884	M	0.63843	1.955	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.96435	0.9322	10	0.87932	D	0	.	11.4865	0.50356	0.0:0.0:1.0:0.0	.	114	Q9NU39	FX4L1_HUMAN	T	114	ENSP00000302756:A114T	ENSP00000302756:A114T	A	+	1	0	FOXD4L1	113973643	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	5.902000	0.69869	1.602000	0.50124	0.184000	0.17185	GCG		0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184	
RABL2A	11159	broad.mit.edu	37	2	114398567	114398567	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:114398567G>A	ENST00000393167.3	+	6	619	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409842.1_Intron|RABL2A_ENST00000409875.1_Missense_Mutation_p.A132T|RABL2A_ENST00000393165.3_Missense_Mutation_p.A132T|RABL2A_ENST00000393166.3_Missense_Mutation_p.A132T	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	132					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A132T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CATCGTGGTGGCCAATAAAAT	0.532																																					p.A132T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	2						.						39.0	38.0	39.0					2																	114398567		2200	4279	6479	114115037	SO:0001583	missense	11159	exon6				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.394G>A	2.37:g.114398567G>A	ENSP00000376872:p.Ala132Thr		114115037	NM_007082	B7ZBD6|Q9NU37	Missense_Mutation	SNP	ENST00000393167.3	37	CCDS2118.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155510	0.57259	.	.	ENSG00000144134	ENST00000393167;ENST00000393165;ENST00000393166;ENST00000409875	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	3.14	3.14	0.36123	Small GTP-binding protein domain (1);	0.045684	0.85682	D	0.000000	D	0.89511	0.6736	H	0.95574	3.69	0.80722	D	1	D;D;D	0.59767	0.977;0.986;0.977	P;P;P	0.61722	0.893;0.838;0.893	D	0.92227	0.5789	10	0.87932	D	0	-11.3908	12.5625	0.56291	0.0:0.0:1.0:0.0	.	132;132;132	Q6IC14;A0AUY0;Q9UBK7	.;.;RBL2A_HUMAN	T	132	ENSP00000376872:A132T;ENSP00000376870:A132T;ENSP00000376871:A132T;ENSP00000387229:A132T	ENSP00000376870:A132T	A	+	1	0	RABL2A	114115037	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	8.564000	0.90726	1.721000	0.51461	0.505000	0.49811	GCC		0.532	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000109047.2		
SLC35F5	80255	broad.mit.edu	37	2	114483038	114483038	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:114483038G>A	ENST00000245680.2	-	12	1580	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	389					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.F389F(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TGGGAAACTCGAAGTCCTCAA	0.358																																					p.F389F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	2						.						92.0	90.0	91.0					2																	114483038		2203	4299	6502	114199508	SO:0001819	synonymous_variant	80255	exon12			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1167C>T	2.37:g.114483038G>A			114199508	NM_025181	Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	G	9.429	1.085117	0.20390	.	.	ENSG00000115084	ENST00000447673	.	.	.	6.07	-0.653	0.11447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.6138	10.8914	0.46998	0.5617:0.0:0.4383:0.0	.	.	.	.	X	152	.	.	R	-	1	2	SLC35F5	114199508	0.990000	0.36364	0.998000	0.56505	0.995000	0.86356	0.450000	0.21762	-0.101000	0.12219	-0.345000	0.07892	CGA		0.358	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	
SLC35F5	80255	broad.mit.edu	37	2	114492240	114492240	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:114492240G>T	ENST00000245680.2	-	9	1256	c.843C>A	c.(841-843)acC>acA	p.T281T		NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	281	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.T281T(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CAAGGATTAAGGTAAAAAGTC	0.299																																					p.T281T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843A	2						.						58.0	59.0	59.0					2																	114492240		2202	4297	6499	114208710	SO:0001819	synonymous_variant	80255	exon9			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.843C>A	2.37:g.114492240G>T			114208710	NM_025181	Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	G	9.259	1.042831	0.19748	.	.	ENSG00000115084	ENST00000447673	.	.	.	5.62	0.516	0.17019	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35226	-0.9797	4	.	.	.	-9.5952	4.6379	0.12534	0.344:0.0:0.4233:0.2327	.	.	.	.	I	31	.	.	L	-	1	0	SLC35F5	114208710	0.871000	0.30034	0.999000	0.59377	0.998000	0.95712	-0.074000	0.11450	0.093000	0.17368	0.655000	0.94253	CTT		0.299	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	
ACTR3	10096	broad.mit.edu	37	2	114714966	114714966	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:114714966A>C	ENST00000263238.2	+	12	1511	c.1191A>C	c.(1189-1191)aaA>aaC	p.K397N	ACTR3_ENST00000536059.1_Missense_Mutation_p.K335N|ACTR3_ENST00000535589.2_Missense_Mutation_p.K346N	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	397					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.K397N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GCCACACCAAAAAGGATTATG	0.358																																					p.K397N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1191C	2						.						128.0	120.0	122.0					2																	114714966		2203	4300	6503	114431436	SO:0001583	missense	10096	exon12			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.1191A>C	2.37:g.114714966A>C	ENSP00000263238:p.Lys397Asn		114431436	NM_005721	P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180351	0.57800	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.96774	-4.12;-4.12;-4.12	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.96365	3.81	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99044	1.0825	10	0.87932	D	0	-9.9318	9.3712	0.38254	0.9203:0.0:0.0797:0.0	.	335;397	F5H3P5;P61158	.;ARP3_HUMAN	N	397;335;268;346	ENSP00000263238:K397N;ENSP00000445257:K335N;ENSP00000444987:K346N	ENSP00000263238:K397N	K	+	3	2	ACTR3	114431436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.053000	0.49901	2.087000	0.62958	0.533000	0.62120	AAA		0.358	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721	
DPP10	57628	broad.mit.edu	37	2	116283510	116283510	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:116283510G>T	ENST00000410059.1	+	5	883	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	DPP10_ENST00000310323.8_Missense_Mutation_p.D128Y|DPP10_ENST00000409163.1_Missense_Mutation_p.D85Y|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.D139Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	135						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.D128Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTTTCACCAGATTTAAAATA	0.313																																					p.D85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253T	2						.						102.0	100.0	101.0					2																	116283510		2203	4300	6503	115999980	SO:0001583	missense	57628	exon6			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.403G>T	2.37:g.116283510G>T	ENSP00000386565:p.Asp135Tyr		115999980	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.910027	0.72983	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000419287;ENST00000476155	T;T;D;T;T;D	0.98120	0.72;0.72;-4.73;0.72;0.72;-4.73	4.99	4.99	0.66335	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.126462	0.51477	D	0.000089	D	0.99048	0.9674	H	0.94847	3.59	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.98;0.997;0.997	D	0.99267	1.0892	10	0.87932	D	0	-29.0934	15.5937	0.76562	0.0:0.0:1.0:0.0	.	128;139;131;135	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	135;85;131;139;128;85;85	ENSP00000386565:D135Y;ENSP00000387038:D85Y;ENSP00000376854:D131Y;ENSP00000376855:D139Y;ENSP00000309066:D128Y;ENSP00000402499:D85Y	ENSP00000309066:D128Y	D	+	1	0	DPP10	115999980	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.715000	0.74697	2.578000	0.87016	0.563000	0.77884	GAT		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
GREB1	9687	broad.mit.edu	37	2	11716645	11716645	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11716645C>A	ENST00000381486.2	+	5	921	c.621C>A	c.(619-621)atC>atA	p.I207I	GREB1_ENST00000263834.5_Silent_p.I207I|GREB1_ENST00000381483.2_Silent_p.I207I|GREB1_ENST00000389825.3_Silent_p.I97I|GREB1_ENST00000234142.5_Silent_p.I207I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	207						integral component of membrane (GO:0016021)		p.I207I(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACCTTTAATCTGTTGGAAAG	0.517																																					p.I207I	Ovarian(39;850 945 2785 23371 33093)											.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C621A	2						.						95.0	89.0	91.0					2																	11716645		2203	4300	6503	11634096	SO:0001819	synonymous_variant	9687	exon5				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.621C>A	2.37:g.11716645C>A			11634096	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.517	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11733113	11733113	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11733113C>T	ENST00000381486.2	+	11	1857	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	GREB1_ENST00000234142.5_Silent_p.I519I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	519						integral component of membrane (GO:0016021)		p.I519I(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGCACGTCATCGAGTGTGCTT	0.682																																					p.I519I	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557T	2						.						20.0	21.0	21.0					2																	11733113		2100	4217	6317	11650564	SO:0001819	synonymous_variant	9687	exon11				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1557C>T	2.37:g.11733113C>T			11650564	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.682	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11774263	11774263	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11774263C>A	ENST00000381486.2	+	29	5298	c.4998C>A	c.(4996-4998)ttC>ttA	p.F1666L	GREB1_ENST00000396123.1_Missense_Mutation_p.F664L|GREB1_ENST00000234142.5_Missense_Mutation_p.F1666L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1666						integral component of membrane (GO:0016021)		p.F1666L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAGGGAGTTCTCCTGGTCGG	0.612																																					p.F1666L	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4998A	2						.						86.0	93.0	90.0					2																	11774263		2133	4248	6381	11691714	SO:0001583	missense	9687	exon29				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4998C>A	2.37:g.11774263C>A	ENSP00000370896:p.Phe1666Leu		11691714	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	5.356	0.250904	0.10130	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.40225	1.04;1.04;1.04	5.01	-5.5	0.02576	.	0.489617	0.23055	N	0.052441	T	0.22205	0.0535	N	0.22421	0.69	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.11182	T	0.66	-14.1994	14.8684	0.70434	0.0:0.312:0.0:0.688	.	1666	Q4ZG55	GREB1_HUMAN	L	1666;1666;664	ENSP00000370896:F1666L;ENSP00000234142:F1666L;ENSP00000379429:F664L	ENSP00000234142:F1666L	F	+	3	2	GREB1	11691714	0.057000	0.20700	0.240000	0.24138	0.777000	0.43975	-0.257000	0.08745	-0.945000	0.03681	-0.379000	0.06801	TTC		0.612	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
NTSR2	23620	broad.mit.edu	37	2	11802178	11802178	+	Silent	SNP	G	G	T	rs138433349		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11802178G>T	ENST00000306928.5	-	2	847	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	271					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.T271T(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCTGGATAAAGGTCTTCTTCC	0.607																																					p.T271T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813A	2						.						75.0	82.0	80.0					2																	11802178		2203	4300	6503	11719629	SO:0001819	synonymous_variant	23620	exon2			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.813C>A	2.37:g.11802178G>T			11719629	NM_012344	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	CCDS1681.1																																																																																				0.607	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1		
DPP10	57628	broad.mit.edu	37	2	116594286	116594286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:116594286G>T	ENST00000410059.1	+	24	2626	c.2146G>T	c.(2146-2148)Gaa>Taa	p.E716*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.E709*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.E666*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.E720*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	716						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.E709*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGGCTTGAAAGAAGAAAATAT	0.313																																					p.E666X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1996T	2						.						79.0	96.0	91.0					2																	116594286		2203	4300	6503	116310756	SO:0001587	stop_gained	57628	exon25			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2146G>T	2.37:g.116594286G>T	ENSP00000386565:p.Glu716*		116310756	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	40	8.287367	0.98742	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.15	5.15	0.70609	.	0.106581	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.4675	17.7899	0.88548	0.0:0.0:1.0:0.0	.	.	.	.	X	716;666;720;709	.	ENSP00000309066:E709X	E	+	1	0	DPP10	116310756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.177000	0.71961	2.667000	0.90743	0.561000	0.74099	GAA		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
DDX18	8886	broad.mit.edu	37	2	118582211	118582211	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:118582211C>A	ENST00000263239.2	+	8	1261	c.1133C>A	c.(1132-1134)tCt>tAt	p.S378Y		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	378	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.S378Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAAGGATTTCTCTGAAAAAG	0.393																																					p.S378Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1133A	2						.						128.0	128.0	128.0					2																	118582211		2203	4300	6503	118298681	SO:0001583	missense	8886	exon8			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1133C>A	2.37:g.118582211C>A	ENSP00000263239:p.Ser378Tyr		118298681	NM_006773	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090393	0.94149	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.04454	3.62;3.62	4.71	4.71	0.59529	DEAD-like helicase (2);	1.022150	0.07739	N	0.946487	T	0.07503	0.0189	N	0.16862	0.45	0.80722	D	1	P	0.51147	0.942	P	0.46362	0.514	T	0.52961	-0.8505	10	0.87932	D	0	.	18.223	0.89907	0.0:1.0:0.0:0.0	.	378	Q9NVP1	DDX18_HUMAN	Y	378;117;61	ENSP00000263239:S378Y;ENSP00000415604:S61Y	ENSP00000263239:S378Y	S	+	2	0	DDX18	118298681	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.125000	0.77193	2.618000	0.88619	0.563000	0.77884	TCT		0.393	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
LPIN1	23175	broad.mit.edu	37	2	11925046	11925046	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:11925046G>A	ENST00000256720.2	+	9	1378	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	LPIN1_ENST00000396097.1_Missense_Mutation_p.D159N|LPIN1_ENST00000396099.1_Missense_Mutation_p.D471N|LPIN1_ENST00000449576.2_Missense_Mutation_p.D514N|LPIN1_ENST00000425416.2_Missense_Mutation_p.D435N|LPIN1_ENST00000404113.2_5'Flank	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	429					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.D429N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACATGCAAGCGACAACGGAGC	0.642											OREG0014445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D429N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1285A	2						.						46.0	48.0	47.0					2																	11925046		2203	4300	6503	11842497	SO:0001583	missense	23175	exon9			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1285G>A	2.37:g.11925046G>A	ENSP00000256720:p.Asp429Asn	675	11842497	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	36	5.955177	0.97145	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.68	5.68	0.88126	.	0.141559	0.64402	D	0.000007	T	0.67040	0.2851	L	0.47716	1.5	0.80722	D	1	P;P	0.51351	0.873;0.944	P;B	0.45449	0.481;0.349	T	0.67197	-0.5731	10	0.42905	T	0.14	-39.0641	19.798	0.96494	0.0:0.0:1.0:0.0	.	514;429	F5GY24;Q14693	.;LPIN1_HUMAN	N	514;471;435;429;159	ENSP00000397908:D514N;ENSP00000379406:D471N;ENSP00000401522:D435N;ENSP00000256720:D429N;ENSP00000379404:D159N	ENSP00000256720:D429N	D	+	1	0	LPIN1	11842497	1.000000	0.71417	0.787000	0.31911	0.506000	0.33950	7.232000	0.78116	2.677000	0.91161	0.563000	0.77884	GAC		0.642	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
CCDC93	54520	broad.mit.edu	37	2	118706917	118706917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:118706917C>A	ENST00000376300.2	-	14	1260	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	CCDC93_ENST00000460781.1_5'Flank|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.E374*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	375								p.E375*(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GCTTTGGATTCTATCTTCTCG	0.418																																					p.E375X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1123T	2						.						244.0	209.0	221.0					2																	118706917		2203	4300	6503	118423387	SO:0001587	stop_gained	54520	exon14			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1123G>T	2.37:g.118706917C>A	ENSP00000365477:p.Glu375*		118423387	NM_019044	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	39	7.324537	0.98214	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-22.5054	17.5969	0.88014	0.0:1.0:0.0:0.0	.	.	.	.	X	375;374	.	ENSP00000324135:E374X	E	-	1	0	CCDC93	118423387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.820000	0.62671	2.824000	0.97209	0.655000	0.94253	GAA		0.418	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	
MARCO	8685	broad.mit.edu	37	2	119699895	119699895	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:119699895C>A	ENST00000327097.4	+	1	154	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	7					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L7I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TAAGAAAATTCTCAAGGAGGA	0.443																																					p.L7I	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19A	2						.						73.0	74.0	73.0					2																	119699895		2203	4300	6503	119416365	SO:0001583	missense	8685	exon1			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.19C>A	2.37:g.119699895C>A	ENSP00000318916:p.Leu7Ile		119416365	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	7.421	0.636651	0.14386	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.91843	-2.92	4.95	1.22	0.21188	.	0.171960	0.26224	N	0.025604	D	0.86489	0.5945	L	0.29908	0.895	0.29334	N	0.866518	P	0.52842	0.956	P	0.48166	0.569	T	0.80533	-0.1340	9	.	.	.	.	6.515	0.22242	0.0:0.6133:0.0:0.3867	.	7	Q9UEW3	MARCO_HUMAN	I	7	ENSP00000318916:L7I	.	L	+	1	0	MARCO	119416365	0.077000	0.21312	0.105000	0.21289	0.657000	0.38888	-0.126000	0.10563	0.386000	0.24997	0.563000	0.77884	CTC		0.443	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
MARCO	8685	broad.mit.edu	37	2	119750794	119750794	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:119750794C>T	ENST00000327097.4	+	16	1482	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	MARCO_ENST00000541757.1_Silent_p.D371D	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	449	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.D449D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTTGCGATGACGAGTGGCAAA	0.527																																					p.D449D	GBM(8;18 374 7467 11269 32796)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1347T	2						.						184.0	174.0	177.0					2																	119750794		2203	4300	6503	119467264	SO:0001819	synonymous_variant	8685	exon16			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1347C>T	2.37:g.119750794C>T			119467264	NM_006770	B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	CCDS2124.1																																																																																				0.527	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
CFAP221	200373	broad.mit.edu	37	2	120362779	120362779	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120362779T>C	ENST00000413369.3	+	11	1134	c.1047T>C	c.(1045-1047)atT>atC	p.I349I	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Silent_p.I63I	NM_001271049.1	NP_001257978												p.I63I(1)				Colorectal(110;0.196)					GCACTGAAATTTCAAAAACGA	0.388																																					p.I63I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T189C	2						.						66.0	69.0	68.0					2																	120362779		2203	4300	6503	120079249	SO:0001819	synonymous_variant	200373	exon12																														ENST00000413369.3:c.1047T>C	2.37:g.120362779T>C			120079249	NM_001029996		Silent	SNP	ENST00000413369.3	37	CCDS33282.2																																																																																				0.388	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
CFAP221	200373	broad.mit.edu	37	2	120385248	120385248	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120385248C>A	ENST00000413369.3	+	16	1623	c.1536C>A	c.(1534-1536)ttC>ttA	p.F512L	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.F226L	NM_001271049.1	NP_001257978												p.F226L(1)				Colorectal(110;0.196)					TCTTCAAATTCTTCCTGAGGC	0.468																																					p.F226L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C678A	2						.						113.0	121.0	118.0					2																	120385248		2203	4300	6503	120101718	SO:0001583	missense	200373	exon17																														ENST00000413369.3:c.1536C>A	2.37:g.120385248C>A	ENSP00000393222:p.Phe512Leu		120101718	NM_001029996		Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.942|2.942	-0.218569|-0.218569	0.06101|0.06101	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000295220;ENST00000413369|ENST00000443972;ENST00000413057	T|.	0.29397|.	1.57|.	4.18|4.18	-0.818|-0.818	0.10833|0.10833	.|.	2.861720|.	0.00969|.	N|.	0.003203|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.26643|0.26643	-1.0097|-1.0097	10|5	0.15499|.	T|.	0.54|.	4.4754|4.4754	4.1907|4.1907	0.10419|0.10419	0.0:0.4463:0.169:0.3847|0.0:0.4463:0.169:0.3847	.|.	356;512|.	Q4G0U5-3;Q4G0U5|.	.;PCDP1_HUMAN|.	L|Y	226;512|71;60	ENSP00000393222:F512L|.	ENSP00000295220:F226L|.	F|S	+|+	3|2	2|0	AC069154.2|AC069154.2	120101718|120101718	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.131000|0.131000	0.15870|0.15870	-0.174000|-0.174000	0.10743|0.10743	-0.119000|-0.119000	0.15052|0.15052	TTC|TCT		0.468	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
TMEM177	80775	broad.mit.edu	37	2	120438602	120438602	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120438602C>A	ENST00000424086.1	+	2	646	c.173C>A	c.(172-174)cCt>cAt	p.P58H	TMEM177_ENST00000401466.1_Missense_Mutation_p.P58H|TMEM177_ENST00000272521.6_Missense_Mutation_p.P58H|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Missense_Mutation_p.P58H	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	58						integral component of membrane (GO:0016021)		p.P58H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCTCCGCTCCCTCCACAGCTG	0.582																																					p.P58H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C173A	2						.						121.0	123.0	122.0					2																	120438602		2203	4300	6503	120155072	SO:0001583	missense	80775	exon2			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.173C>A	2.37:g.120438602C>A	ENSP00000402661:p.Pro58His		120155072	NM_001105199	Q9BT20	Missense_Mutation	SNP	ENST00000424086.1	37	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987855	0.35036	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.48	3.6	0.41247	.	0.308940	0.36303	N	0.002671	T	0.14227	0.0344	L	0.40543	1.245	0.09310	N	1	B;P	0.36249	0.412;0.545	B;B	0.38194	0.128;0.267	T	0.14337	-1.0476	10	0.72032	D	0.01	-3.5286	6.343	0.21332	0.0:0.7128:0.1867:0.1004	.	58;58	B8ZZT5;Q53S58	.;TM177_HUMAN	H	58	ENSP00000385966:P58H;ENSP00000402661:P58H;ENSP00000272521:P58H;ENSP00000405898:P58H;ENSP00000386430:P58H	ENSP00000272521:P58H	P	+	2	0	TMEM177	120155072	0.077000	0.21312	0.030000	0.17652	0.412000	0.31113	3.603000	0.54074	1.258000	0.44101	0.549000	0.68633	CCT		0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577	
PTPN4	5775	broad.mit.edu	37	2	120640090	120640090	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120640090G>T	ENST00000263708.2	+	8	1249	c.478G>T	c.(478-480)Gac>Tac	p.D160Y		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	160	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.D160Y(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TGAACTTGGAGACTACGATCA	0.299																																					p.D160Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478T	2						.						26.0	26.0	26.0					2																	120640090		2187	4283	6470	120356560	SO:0001583	missense	5775	exon8				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.478G>T	2.37:g.120640090G>T	ENSP00000263708:p.Asp160Tyr		120356560	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954686	0.73902	.	.	ENSG00000088179	ENST00000263708	T	0.80214	-1.35	5.73	4.85	0.62838	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.045054	0.85682	D	0.000000	D	0.93706	0.7989	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95888	0.8904	10	0.87932	D	0	.	14.8363	0.70187	0.0691:0.0:0.9309:0.0	.	160	P29074	PTN4_HUMAN	Y	160	ENSP00000263708:D160Y	ENSP00000263708:D160Y	D	+	1	0	PTPN4	120356560	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.246000	0.78247	1.430000	0.47334	0.591000	0.81541	GAC		0.299	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		
PTPN4	5775	broad.mit.edu	37	2	120723143	120723143	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120723143C>T	ENST00000263708.2	+	25	3251	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L	PTPN4_ENST00000544261.1_Missense_Mutation_p.S460L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	827	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S827L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTGATGATTCGAGTGACTTT	0.428																																					p.S827L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2480T	2						.						157.0	137.0	143.0					2																	120723143		2203	4300	6503	120439613	SO:0001583	missense	5775	exon25				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2480C>T	2.37:g.120723143C>T	ENSP00000263708:p.Ser827Leu		120439613	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013547	0.93346	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.12672	2.66;2.66	5.62	5.62	0.85841	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01334	-1.1382	10	0.56958	D	0.05	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	827	P29074	PTN4_HUMAN	L	827;460	ENSP00000263708:S827L;ENSP00000445841:S460L	ENSP00000263708:S827L	S	+	2	0	PTPN4	120439613	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.625000	0.83145	2.660000	0.90430	0.655000	0.94253	TCG		0.428	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		
EPB41L5	57669	broad.mit.edu	37	2	120833065	120833065	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:120833065C>A	ENST00000263713.5	+	6	635	c.421C>A	c.(421-423)Ctt>Att	p.L141I	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L141I|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L141I|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L141I|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L141I	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	141	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.L141I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTATTTGTTCTTCAGTTAAA	0.284																																					p.L141I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C421A	2						.						97.0	97.0	97.0					2																	120833065		2201	4291	6492	120549535	SO:0001583	missense	57669	exon6			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.421C>A	2.37:g.120833065C>A	ENSP00000263713:p.Leu141Ile		120549535	NM_001184937	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550232	0.86127	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.73	4.73	0.59995	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	D	0.000010	D	0.93779	0.8011	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.96291	0.9214	10	0.87932	D	0	.	17.6568	0.88180	0.0:1.0:0.0:0.0	.	141;141;141	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	I	141	ENSP00000263713:L141I;ENSP00000393856:L141I;ENSP00000329687:L141I;ENSP00000393722:L141I;ENSP00000390439:L141I	ENSP00000263713:L141I	L	+	1	0	EPB41L5	120549535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.685000	0.46959	2.313000	0.78055	0.555000	0.69702	CTT		0.284	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909	
RALB	5899	broad.mit.edu	37	2	121047164	121047164	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:121047164T>C	ENST00000272519.5	+	4	602	c.332T>C	c.(331-333)aTt>aCt	p.I111T	RALB_ENST00000474855.2_Missense_Mutation_p.I133T|RALB_ENST00000404963.3_Missense_Mutation_p.I132T|RALB_ENST00000420510.1_Missense_Mutation_p.I111T|RALB_ENST00000470417.1_3'UTR	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	111					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I111T(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AGGGAACAGATTCTCCGTGTG	0.463																																					p.I111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T332C	2						.						124.0	138.0	133.0					2																	121047164		2203	4300	6503	120763634	SO:0001583	missense	5899	exon4				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.332T>C	2.37:g.121047164T>C	ENSP00000272519:p.Ile111Thr		120763634	NM_002881	B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604203	0.87157	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.998	D	0.94090	0.7352	10	0.87932	D	0	.	15.5811	0.76439	0.0:0.0:0.0:1.0	.	133;132;111	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	T	133;133;111;111;132;111;111	ENSP00000402866:I133T;ENSP00000438764:I133T;ENSP00000272519:I111T;ENSP00000414224:I111T;ENSP00000384328:I132T;ENSP00000398162:I111T;ENSP00000407062:I111T	ENSP00000272519:I111T	I	+	2	0	RALB	120763634	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.719000	0.84751	2.270000	0.75569	0.459000	0.35465	ATT		0.463	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881	
RALB	5899	broad.mit.edu	37	2	121050803	121050803	+	Missense_Mutation	SNP	G	G	T	rs148881695		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:121050803G>T	ENST00000272519.5	+	5	858	c.588G>T	c.(586-588)aaG>aaT	p.K196N	RALB_ENST00000474855.2_Missense_Mutation_p.K218N|RALB_ENST00000404963.3_Missense_Mutation_p.K217N|RALB_ENST00000420510.1_Missense_Mutation_p.K196N|RALB_ENST00000470417.1_3'UTR	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	196					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K196N(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GCAAGAACAAGAAAAGTTTTA	0.433																																					p.K196N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G588T	2						.						108.0	106.0	107.0					2																	121050803		2203	4300	6503	120767273	SO:0001583	missense	5899	exon5				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.588G>T	2.37:g.121050803G>T	ENSP00000272519:p.Lys196Asn		120767273	NM_002881	B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585168	0.66105	.	.	ENSG00000144118	ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963	T;T;T;T	0.66099	-0.19;-0.18;-0.18;0.26	5.75	5.75	0.90469	.	0.062072	0.64402	D	0.000007	T	0.66086	0.2754	L	0.51914	1.62	0.80722	D	1	P;D;P	0.56968	0.791;0.978;0.671	B;P;B	0.53146	0.255;0.719;0.188	T	0.63571	-0.6607	10	0.35671	T	0.21	.	13.1859	0.59680	0.0726:0.0:0.9274:0.0	.	218;217;196	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	N	218;196;196;217	ENSP00000438764:K218N;ENSP00000272519:K196N;ENSP00000414224:K196N;ENSP00000384328:K217N	ENSP00000272519:K196N	K	+	3	2	RALB	120767273	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.342000	0.65970	2.719000	0.93026	0.655000	0.94253	AAG		0.433	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881	
SNTG2	54221	broad.mit.edu	37	2	1251191	1251191	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1251191C>A	ENST00000308624.5	+	12	1110	c.981C>A	c.(979-981)tcC>tcA	p.S327S	SNTG2_ENST00000407292.1_Silent_p.S200S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	327	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.S327S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGGGCCCGTCCTTCTACGTTT	0.537																																					p.S327S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981A	2						.						63.0	62.0	62.0					2																	1251191		2003	4190	6193	1233742	SO:0001819	synonymous_variant	54221	exon12			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.981C>A	2.37:g.1251191C>A			1233742	NM_018968	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																				0.537	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
CLASP1	23332	broad.mit.edu	37	2	122120867	122120867	+	Nonsense_Mutation	SNP	G	G	A	rs145127425	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:122120867G>A	ENST00000263710.4	-	37	4476	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1363	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.R1363*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCAGTGCTCGAATTGAATGC	0.468																																					p.R1296X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3886T	2						.						71.0	65.0	67.0					2																	122120867		1960	4154	6114	121837337	SO:0001587	stop_gained	23332	exon35			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4087C>T	2.37:g.122120867G>A	ENSP00000263710:p.Arg1363*		121837337	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Nonsense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	44	11.084874	0.99513	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	.	.	.	5.34	5.34	0.76211	.	0.057652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1363	14.2001	0.65696	0.0:0.0:0.8145:0.1855	.	.	.	.	X	1363;1319;1303;1302;1080;1296;1070	.	ENSP00000263710:R1363X	R	-	1	2	CLASP1	121837337	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.912000	0.63335	2.659000	0.90383	0.563000	0.77884	CGA		0.468	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNTNAP5	129684	broad.mit.edu	37	2	125192138	125192138	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:125192138G>T	ENST00000431078.1	+	5	971	c.607G>T	c.(607-609)Gat>Tat	p.D203Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	203	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D203Y(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACTCTCAAAGATGTGATCTC	0.493																																					p.D203Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607T	2						.						122.0	117.0	119.0					2																	125192138		2017	4200	6217	124908608	SO:0001583	missense	129684	exon5			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.607G>T	2.37:g.125192138G>T	ENSP00000399013:p.Asp203Tyr		124908608	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575651	0.86645	.	.	ENSG00000155052	ENST00000431078	T	0.79352	-1.26	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.49305	D	0.000156	D	0.84129	0.5404	M	0.91196	3.185	0.80722	D	1	P	0.47677	0.899	B	0.42282	0.382	D	0.88542	0.3110	10	0.87932	D	0	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	203	Q8WYK1	CNTP5_HUMAN	Y	203	ENSP00000399013:D203Y	ENSP00000399013:D203Y	D	+	1	0	CNTNAP5	124908608	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.687000	0.98667	2.576000	0.86940	0.655000	0.94253	GAT		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125204385	125204385	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:125204385C>A	ENST00000431078.1	+	6	1153	c.789C>A	c.(787-789)ctC>ctA	p.L263L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	263	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L263L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGGCAGCCTCCTGGATGACC	0.617																																					p.L263L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789A	2						.						60.0	64.0	63.0					2																	125204385		2152	4278	6430	124920855	SO:0001819	synonymous_variant	129684	exon6			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.789C>A	2.37:g.125204385C>A			124920855	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.617	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125521709	125521709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:125521709C>T	ENST00000431078.1	+	16	2879	c.2515C>T	c.(2515-2517)Cga>Tga	p.R839*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	839	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R839*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGACTTCATTCGACTCGAAAT	0.373																																					p.R839X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.C2515T	2						.						106.0	101.0	103.0					2																	125521709		1832	4081	5913	125238179	SO:0001587	stop_gained	129684	exon16			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2515C>T	2.37:g.125521709C>T	ENSP00000399013:p.Arg839*		125238179	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	44	10.565196	0.99428	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.75	4.86	0.63082	.	0.000000	0.40385	N	0.001103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9074	0.58160	0.2953:0.7047:0.0:0.0	.	.	.	.	X	839	.	ENSP00000399013:R839X	R	+	1	2	CNTNAP5	125238179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.880000	0.48530	1.398000	0.46701	0.655000	0.94253	CGA		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
ERCC3	2071	broad.mit.edu	37	2	128044365	128044365	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128044365C>A	ENST00000285398.2	-	8	1350	c.1256G>T	c.(1255-1257)aGg>aTg	p.R419M	ERCC3_ENST00000493187.2_Missense_Mutation_p.R355M	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	419	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)	p.R419M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTCCCAGGACCTTTTGGTGGT	0.597			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R419M		yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256T	2						.						110.0	104.0	106.0					2																	128044365		2203	4300	6503	127760835	SO:0001583	missense	2071	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1256G>T	2.37:g.128044365C>A	ENSP00000285398:p.Arg419Met		127760835	NM_000122	Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005539	0.93287	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.76186	-1.0;-1.0	5.26	5.26	0.73747	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.92785	0.6243	10	0.87932	D	0	-31.5627	19.2242	0.93812	0.0:1.0:0.0:0.0	.	419	P19447	ERCC3_HUMAN	M	419;355	ENSP00000285398:R419M;ENSP00000444796:R355M	ENSP00000285398:R419M	R	-	2	0	ERCC3	127760835	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	7.776000	0.85560	2.605000	0.88082	0.655000	0.94253	AGG		0.597	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	
TRIB2	28951	broad.mit.edu	37	2	12863671	12863671	+	Missense_Mutation	SNP	G	G	A	rs546825227		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:12863671G>A	ENST00000405331.3	+	2	626	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	TRIB2_ENST00000381465.2_Missense_Mutation_p.E50K|TRIB2_ENST00000155926.4_Missense_Mutation_p.E186K					tribbles pseudokinase 2									p.E186K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTTAAGGACGAAGAGAGGTA	0.532																																					p.E186K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	2						.						40.0	43.0	42.0					2																	12863671		2203	4299	6502	12781122	SO:0001583	missense	28951	exon2			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.556G>A	2.37:g.12863671G>A	ENSP00000384260:p.Glu186Lys		12781122	NM_021643		Missense_Mutation	SNP	ENST00000405331.3	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.181458	0.78677	.	.	ENSG00000071575	ENST00000155926;ENST00000381465;ENST00000405331	T;T;T	0.64438	-0.1;-0.1;-0.1	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133960	0.64402	D	0.000002	T	0.44912	0.1316	N	0.13299	0.325	0.80722	D	1	B	0.24618	0.107	B	0.21708	0.036	T	0.41305	-0.9516	10	0.07813	T	0.8	-15.1376	18.6653	0.91488	0.0:0.0:1.0:0.0	.	186	Q92519	TRIB2_HUMAN	K	186;50;186	ENSP00000155926:E186K;ENSP00000370874:E50K;ENSP00000384260:E186K	ENSP00000155926:E186K	E	+	1	0	TRIB2	12781122	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	9.869000	0.99810	2.656000	0.90262	0.655000	0.94253	GAA		0.532	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643	
TRIB2	28951	broad.mit.edu	37	2	12880833	12880833	+	Silent	SNP	G	G	A	rs369596172		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:12880833G>A	ENST00000155926.4	+	3	2364	c.945G>A	c.(943-945)tcG>tcA	p.S315S	TRIB2_ENST00000381465.2_Silent_p.S179S	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.S315S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTAGCGTCTCGAATTCAGCAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19471	0.0		0.0	False		,,,				2504	0.001				p.S315S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G945A	2						.	G		0,4406		0,0,2203	75.0	72.0	73.0		945	-3.5	1.0	2		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIB2	NM_021643.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		315/344	12880833	1,13005	2203	4300	6503	12798284	SO:0001819	synonymous_variant	28951	exon3			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.945G>A	2.37:g.12880833G>A			12798284	NM_021643		Silent	SNP	ENST00000155926.4	37	CCDS1683.1																																																																																				0.522	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643	
MAP3K2	10746	broad.mit.edu	37	2	128081548	128081548	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128081548C>A	ENST00000409947.1	-	11	1050	c.768G>T	c.(766-768)gaG>gaT	p.E256D	MAP3K2_ENST00000344908.5_Missense_Mutation_p.E256D			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	256					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.E256D(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TTCCAAATTTCTCAAAGATAG	0.274																																					p.E256D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G768T	2						.						65.0	57.0	59.0					2																	128081548		1792	4046	5838	127798018	SO:0001583	missense	10746	exon10			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.768G>T	2.37:g.128081548C>A	ENSP00000387246:p.Glu256Asp		127798018	NM_006609	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	C	7.931	0.740720	0.15642	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.38077	1.16;1.16	4.85	3.01	0.34805	.	0.054771	0.64402	N	0.000001	T	0.15609	0.0376	N	0.14661	0.345	0.49915	D	0.999839	B	0.06786	0.001	B	0.06405	0.002	T	0.09818	-1.0657	10	0.06891	T	0.86	.	5.3613	0.16089	0.1475:0.6336:0.1424:0.0765	.	256	Q9Y2U5	M3K2_HUMAN	D	256	ENSP00000387246:E256D;ENSP00000343463:E256D	ENSP00000343463:E256D	E	-	3	2	MAP3K2	127798018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.424000	0.44714	0.614000	0.30107	0.555000	0.69702	GAG		0.274	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
MYO7B	4648	broad.mit.edu	37	2	128317302	128317302	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128317302C>T	ENST00000409816.2	+	1	37	c.5C>T	c.(4-6)tCg>tTg	p.S2L	MYO7B_ENST00000428314.1_Missense_Mutation_p.S2L|MYO7B_ENST00000389524.4_Missense_Mutation_p.S2L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S2L(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTCAGGATGTCGGGGTTCAGG	0.502																																					p.S2L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5T	2						.						140.0	151.0	147.0					2																	128317302		2053	4192	6245	128033772	SO:0001583	missense	4648	exon2				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5C>T	2.37:g.128317302C>T	ENSP00000386461:p.Ser2Leu		128033772	NM_001080527	Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430414	0.04669	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87729	-2.28;-2.29;-2.29	3.87	2.03	0.26663	.	.	.	.	.	T	0.70902	0.3277	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.59075	-0.7522	9	0.36615	T	0.2	.	5.3124	0.15837	0.0:0.7423:0.0:0.2577	.	2	Q6PIF6	MYO7B_HUMAN	L	2	ENSP00000374175:S2L;ENSP00000415090:S2L;ENSP00000386461:S2L	ENSP00000374175:S2L	S	+	2	0	MYO7B	128033772	0.031000	0.19500	0.399000	0.26333	0.058000	0.15608	0.225000	0.17757	0.932000	0.37266	-0.142000	0.14014	TCG		0.502	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001	
WDR33	55339	broad.mit.edu	37	2	128466446	128466446	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128466446G>A	ENST00000322313.4	-	21	3744	c.3586C>T	c.(3586-3588)Cgt>Tgt	p.R1196C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1196					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1196C(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGAGTATCACGAAAATGTTCA	0.517																																					p.R1196C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3586T	2						.						51.0	50.0	51.0					2																	128466446		2203	4300	6503	128182916	SO:0001583	missense	55339	exon21				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3586C>T	2.37:g.128466446G>A	ENSP00000325377:p.Arg1196Cys		128182916	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969087	0.74131	.	.	ENSG00000136709	ENST00000322313	D	0.91945	-2.94	5.56	5.56	0.83823	.	0.070560	0.56097	D	0.000030	D	0.86822	0.6025	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	B	0.40659	0.336	D	0.89092	0.3483	10	0.66056	D	0.02	-9.5501	18.5233	0.90962	0.0:0.0:1.0:0.0	.	1196	Q9C0J8	WDR33_HUMAN	C	1196	ENSP00000325377:R1196C	ENSP00000325377:R1196C	R	-	1	0	WDR33	128182916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.663000	0.61532	2.640000	0.89533	0.655000	0.94253	CGT		0.517	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
WDR33	55339	broad.mit.edu	37	2	128471176	128471176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128471176G>A	ENST00000322313.4	-	18	3447	c.3289C>T	c.(3289-3291)Cga>Tga	p.R1097*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1097					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1097*(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCGCCCTCGAAAACGTGGG	0.602																																					p.R1097X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3289T	2						.						121.0	127.0	125.0					2																	128471176		2203	4300	6503	128187646	SO:0001587	stop_gained	55339	exon18				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3289C>T	2.37:g.128471176G>A	ENSP00000325377:p.Arg1097*		128187646	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	42	9.524565	0.99195	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.85	0.62838	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9399	17.6121	0.88056	0.0:0.0:0.8683:0.1317	.	.	.	.	X	1097	.	ENSP00000325377:R1097X	R	-	1	2	WDR33	128187646	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.210000	0.58500	2.738000	0.93877	0.655000	0.94253	CGA		0.602	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
WDR33	55339	broad.mit.edu	37	2	128528479	128528479	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128528479A>C	ENST00000322313.4	-	2	235	c.77T>G	c.(76-78)tTt>tGt	p.F26C	WDR33_ENST00000409658.3_Missense_Mutation_p.F26C|WDR33_ENST00000393006.1_Missense_Mutation_p.F26C	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	26					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F26C(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGCTTATAAAACAGCTGTCG	0.433																																					p.F26C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T77G	2						.						117.0	111.0	113.0					2																	128528479		2203	4300	6503	128244949	SO:0001583	missense	55339	exon2				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.77T>G	2.37:g.128528479A>C	ENSP00000325377:p.Phe26Cys		128244949	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633573	0.67015	.	.	ENSG00000136709	ENST00000322313;ENST00000393006;ENST00000409658;ENST00000408998	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.77557	0.987;0.981;0.99	T	0.67341	-0.5695	10	0.72032	D	0.01	-6.8121	15.6889	0.77434	1.0:0.0:0.0:0.0	.	26;26;26	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	C	26	ENSP00000325377:F26C;ENSP00000376730:F26C;ENSP00000387186:F26C;ENSP00000386861:F26C	ENSP00000325377:F26C	F	-	2	0	WDR33	128244949	1.000000	0.71417	0.971000	0.41717	0.975000	0.68041	9.199000	0.95003	2.113000	0.64589	0.482000	0.46254	TTT		0.433	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
SAP130	79595	broad.mit.edu	37	2	128772380	128772380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128772380G>A	ENST00000259235.3	-	5	823	c.694C>T	c.(694-696)Cga>Tga	p.R232*	SAP130_ENST00000259234.6_Nonsense_Mutation_p.R206*|SAP130_ENST00000357702.5_Nonsense_Mutation_p.R232*	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	232					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.R232*(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCGTTACCTCGAGGTAAATGA	0.403																																					p.R232X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C694T	2						.						97.0	92.0	93.0					2																	128772380		2203	4300	6503	128488850	SO:0001587	stop_gained	79595	exon5			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.694C>T	2.37:g.128772380G>A	ENSP00000259235:p.Arg232*		128488850	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Nonsense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370088	0.95900	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3887	0.74726	0.0:0.0:0.8608:0.1392	.	.	.	.	X	232;232;206;206	.	ENSP00000259234:R206X	R	-	1	2	SAP130	128488850	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.422000	0.52749	2.894000	0.99253	0.655000	0.94253	CGA		0.403	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
UGGT1	56886	broad.mit.edu	37	2	128896367	128896367	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128896367G>A	ENST00000259253.6	+	16	1707	c.1660G>A	c.(1660-1662)Gca>Aca	p.A554T	UGGT1_ENST00000375990.3_Missense_Mutation_p.A530T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	554					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.A554T(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTTCTTAGAGCATATAATTA	0.378																																					p.A554T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660A	2						.						158.0	148.0	151.0					2																	128896367		2203	4300	6503	128612837	SO:0001583	missense	56886	exon16			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1660G>A	2.37:g.128896367G>A	ENSP00000259253:p.Ala554Thr		128612837	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459768	0.63401	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.01474	4.85;4.85	4.86	4.86	0.63082	.	0.156358	0.56097	D	0.000028	T	0.03434	0.0099	M	0.64676	1.99	0.58432	D	0.999995	B;B	0.21225	0.025;0.053	B;B	0.25405	0.047;0.06	T	0.40021	-0.9585	10	0.49607	T	0.09	.	13.7028	0.62620	0.0771:0.0:0.9229:0.0	.	530;554	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	530;554	ENSP00000365158:A530T;ENSP00000259253:A554T	ENSP00000259253:A554T	A	+	1	0	UGGT1	128612837	1.000000	0.71417	0.996000	0.52242	0.901000	0.52897	6.929000	0.75852	2.409000	0.81822	0.650000	0.86243	GCA		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
UGGT1	56886	broad.mit.edu	37	2	128918826	128918826	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128918826C>T	ENST00000259253.6	+	25	2856	c.2809C>T	c.(2809-2811)Cgg>Tgg	p.R937W	UGGT1_ENST00000375990.3_Missense_Mutation_p.R913W	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	937					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.R937W(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAACAGCTTCGGGTAGAAGA	0.358																																					p.R937W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2809T	2						.						90.0	94.0	93.0					2																	128918826		2203	4300	6503	128635296	SO:0001583	missense	56886	exon25			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2809C>T	2.37:g.128918826C>T	ENSP00000259253:p.Arg937Trp		128635296	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549996	0.65311	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08896	3.04;3.04	5.86	5.86	0.93980	.	0.180390	0.49305	D	0.000152	T	0.13543	0.0328	L	0.40543	1.245	0.42510	D	0.992968	P;P	0.49862	0.901;0.929	P;B	0.51229	0.663;0.394	T	0.01504	-1.1338	9	.	.	.	.	13.9617	0.64185	0.0:0.8044:0.1956:0.0	.	913;937	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	W	913;937	ENSP00000365158:R913W;ENSP00000259253:R937W	.	R	+	1	2	UGGT1	128635296	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.315000	0.51951	2.777000	0.95525	0.655000	0.94253	CGG		0.358	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
UGGT1	56886	broad.mit.edu	37	2	128928834	128928834	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128928834A>C	ENST00000259253.6	+	28	3127	c.3080A>C	c.(3079-3081)aAa>aCa	p.K1027T	UGGT1_ENST00000375990.3_Missense_Mutation_p.K1003T	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1027					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K1027T(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCCAATCCAAACTTTCTGAC	0.333																																					p.K1027T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3080C	2						.						91.0	89.0	90.0					2																	128928834		2203	4300	6503	128645304	SO:0001583	missense	56886	exon28			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3080A>C	2.37:g.128928834A>C	ENSP00000259253:p.Lys1027Thr		128645304	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118308	0.77323	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.32023	1.47;1.47	5.53	5.53	0.82687	.	0.046788	0.85682	D	0.000000	T	0.40171	0.1106	M	0.82323	2.585	0.80722	D	1	B;B	0.14805	0.002;0.011	B;B	0.21151	0.013;0.033	T	0.27365	-1.0076	9	.	.	.	.	15.3255	0.74157	1.0:0.0:0.0:0.0	.	1003;1027	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	T	1003;1027	ENSP00000365158:K1003T;ENSP00000259253:K1027T	.	K	+	2	0	UGGT1	128645304	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.589000	0.67523	2.108000	0.64289	0.528000	0.53228	AAA		0.333	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
UGGT1	56886	broad.mit.edu	37	2	128931419	128931419	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:128931419A>C	ENST00000259253.6	+	30	3406	c.3359A>C	c.(3358-3360)gAc>gCc	p.D1120A	UGGT1_ENST00000375990.3_Missense_Mutation_p.D1096A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1120					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.D1120A(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATTGCTACGACATCACCACA	0.493																																					p.D1120A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3359C	2						.						138.0	118.0	125.0					2																	128931419		2203	4300	6503	128647889	SO:0001583	missense	56886	exon30			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3359A>C	2.37:g.128931419A>C	ENSP00000259253:p.Asp1120Ala		128647889	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562610	0.86335	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.46063	0.88;0.88	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.92219	3.285	0.80722	D	1	D	0.54601	0.967	P	0.59221	0.854	T	0.78006	-0.2373	9	.	.	.	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	1120	Q9NYU2	UGGG1_HUMAN	A	1096;1120	ENSP00000365158:D1096A;ENSP00000259253:D1120A	.	D	+	2	0	UGGT1	128647889	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	8.425000	0.90270	2.194000	0.70268	0.533000	0.62120	GAC		0.493	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
POTEF	728378	broad.mit.edu	37	2	130877719	130877719	+	Missense_Mutation	SNP	C	C	T	rs376091861	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:130877719C>T	ENST00000409914.2	-	3	769	c.370G>A	c.(370-372)Gat>Aat	p.D124N	POTEF_ENST00000361163.4_Missense_Mutation_p.D124N|POTEF_ENST00000357462.5_Missense_Mutation_p.D124N|POTEF_ENST00000360967.5_Missense_Mutation_p.D124N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	124					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.D124N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCACTGTCATCGTAGTCTCCC	0.577													.|||	4	0.000798722	0.003	0.0	5008	,	,		17097	0.0		0.0	False		,,,				2504	0.0				p.D124N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G370A	2						.	C	ASN/ASP	4,4398		0,4,2197	80.0	96.0	90.0		370	-1.2	0.0	2		90	1,8597		0,1,4298	no	missense	POTEF	NM_001099771.2	23	0,5,6495	TT,TC,CC		0.0116,0.0909,0.0385	benign	124/1076	130877719	5,12995	2201	4299	6500	130594189	SO:0001583	missense	728378	exon3			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.370G>A	2.37:g.130877719C>T	ENSP00000386786:p.Asp124Asn		130594189	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	11.10	1.540657	0.27563	9.09E-4	1.16E-4	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77098	-1.07;-1.07;1.75;1.73	0.619	-1.16	0.09678	.	.	.	.	.	T	0.61949	0.2388	L	0.58101	1.795	0.09310	N	1	P	0.52463	0.953	B	0.29267	0.1	T	0.56335	-0.7996	8	0.87932	D	0	.	.	.	.	.	124	A5A3E0	POTEF_HUMAN	N	124	ENSP00000350052:D124N;ENSP00000386786:D124N;ENSP00000354232:D124N;ENSP00000355012:D124N	ENSP00000350052:D124N	D	-	1	0	POTEF	130594189	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.497000	0.02289	-0.409000	0.07553	0.162000	0.16502	GAT		0.577	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
CCDC74B	91409	broad.mit.edu	37	2	130897938	130897938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:130897938C>A	ENST00000310463.6	-	5	827	c.690G>T	c.(688-690)gaG>gaT	p.E230D	MED15P9_ENST00000427638.1_RNA|CCDC74B_ENST00000409943.3_Missense_Mutation_p.E164D|CCDC74B_ENST00000392984.3_Missense_Mutation_p.E332D	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	230								p.E230D(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCTCTGCTTTCTCCTTTCTGA	0.632																																					p.E230D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	2						.						80.0	87.0	84.0					2																	130897938		2203	4300	6503	130614408	SO:0001583	missense	91409	exon5				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.690G>T	2.37:g.130897938C>A	ENSP00000308873:p.Glu230Asp		130614408	NM_207310	Q6NW18	Missense_Mutation	SNP	ENST00000310463.6	37	CCDS2155.1	.	.	.	.	.	.	.	.	.	.	.	9.863	1.196766	0.22037	.	.	ENSG00000152076	ENST00000409943;ENST00000310463;ENST00000392984	T;T;T	0.28895	1.72;1.67;1.59	2.5	-2.71	0.05986	.	0.233058	0.20849	U	0.084570	T	0.35653	0.0939	M	0.67953	2.075	0.09310	N	1	D;D;D	0.64830	0.994;0.969;0.99	P;P;P	0.54664	0.583;0.533;0.758	T	0.23904	-1.0175	10	0.36615	T	0.2	.	6.4458	0.21875	0.0:0.5103:0.0:0.4897	.	332;164;230	E7ESC5;Q96LY2-2;Q96LY2	.;.;CC74B_HUMAN	D	164;230;332	ENSP00000386294:E164D;ENSP00000308873:E230D;ENSP00000376710:E332D	ENSP00000308873:E230D	E	-	3	2	CCDC74B	130614408	0.000000	0.05858	0.039000	0.18376	0.060000	0.15804	-0.140000	0.10342	-0.707000	0.05022	0.298000	0.19748	GAG		0.632	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254522.3	NM_207310	
TUBA3E	112714	broad.mit.edu	37	2	130952791	130952791	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:130952791C>T	ENST00000312988.7	-	3	336	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	79					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R79H(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGTCCCTGTGCGCACTTCATC	0.512																																					p.R79H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236A	2						.						129.0	130.0	130.0					2																	130952791		2203	4300	6503	130669261	SO:0001583	missense	112714	exon3			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.236G>A	2.37:g.130952791C>T	ENSP00000318197:p.Arg79His		130669261	NM_207312		Missense_Mutation	SNP	ENST00000312988.7	37	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.151791	0.57151	.	.	ENSG00000152086	ENST00000312988	T	0.69806	-0.43	2.99	2.99	0.34606	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.49916	U	0.000129	T	0.76828	0.4042	H	0.94964	3.605	0.48087	D	0.999587	P	0.43938	0.822	P	0.44447	0.45	D	0.83764	0.0216	10	0.87932	D	0	.	11.7436	0.51807	0.0:1.0:0.0:0.0	.	79	Q6PEY2	TBA3E_HUMAN	H	79	ENSP00000318197:R79H	ENSP00000318197:R79H	R	-	2	0	TUBA3E	130669261	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.470000	0.73558	1.683000	0.51011	0.455000	0.32223	CGC		0.512	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312	
ARHGEF4	50649	broad.mit.edu	37	2	131688757	131688757	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:131688757G>T	ENST00000326016.5	+	3	746	c.227G>T	c.(226-228)aGa>aTa	p.R76I	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.R76I|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.R76I|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.R76I|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.R76I|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.R932I|SCARNA4_ENST00000517020.2_RNA	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	76	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R76I(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AAGACACAGAGAAAGAAGTTG	0.597																																					p.R76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227T	2						.						38.0	32.0	34.0					2																	131688757		2203	4300	6503	131405227	SO:0001583	missense	50649	exon3			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.227G>T	2.37:g.131688757G>T	ENSP00000316845:p.Arg76Ile		131405227	NM_015320	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276343	0.40294	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.73789	0.62;-0.49;-0.61;0.67;0.68;-0.61;-0.78	4.72	3.7	0.42460	.	.	.	.	.	T	0.75019	0.3793	L	0.34521	1.04	0.49687	D	0.999813	P;D;P;P	0.76494	0.917;0.999;0.95;0.917	B;D;P;B	0.74023	0.445;0.982;0.648;0.445	T	0.75505	-0.3294	9	0.87932	D	0	.	5.0624	0.14564	0.1948:0.0:0.8052:0.0	.	76;932;76;76	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	I	932;76;76;256;76;76;76	ENSP00000386794:R932I;ENSP00000316845:R76I;ENSP00000376680:R76I;ENSP00000389661:R256I;ENSP00000398455:R76I;ENSP00000432267:R76I;ENSP00000387285:R76I	ENSP00000316845:R76I	R	+	2	0	ARHGEF4	131405227	0.891000	0.30450	0.880000	0.34516	0.545000	0.35147	1.083000	0.30815	2.151000	0.67156	0.467000	0.42956	AGA		0.597	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
POTEE	445582	broad.mit.edu	37	2	131976095	131976095	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:131976095G>T	ENST00000356920.5	+	1	214	c.120G>T	c.(118-120)aaG>aaT	p.K40N	POTEE_ENST00000358087.5_Missense_Mutation_p.K40N|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	40					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K40N(2)									AGAGCGGCAAGAGCAACGTGG	0.592																																					p.K40N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G120T	2						.						132.0	153.0	146.0					2																	131976095		2189	4298	6487	131692565	SO:0001583	missense	445582	exon1			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.120G>T	2.37:g.131976095G>T	ENSP00000439189:p.Lys40Asn		131692565	NM_001083538	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578560	0.13686	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80393	-1.37;1.25	0.1	0.1	0.14510	.	.	.	.	.	T	0.70141	0.3190	L	0.27053	0.805	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.61574	-0.7035	8	0.87932	D	0	.	.	.	.	.	40	Q6S8J3	POTEE_HUMAN	N	40	ENSP00000439189:K40N;ENSP00000443049:K40N	ENSP00000439189:K40N	K	+	3	2	AC131180.1	131692565	0.015000	0.18098	0.043000	0.18650	0.043000	0.13939	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	AAG		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
TUBA3D	113457	broad.mit.edu	37	2	132237994	132237994	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:132237994G>A	ENST00000321253.6	+	4	835	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	243					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R243Q(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCTCCCTGCGATTTGATGGG	0.567																																					p.R243Q	Ovarian(137;2059 2432 35543 39401)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G728A	2						.						87.0	119.0	109.0					2																	132237994		1982	4281	6263	131954464	SO:0001583	missense	113457	exon4			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.728G>A	2.37:g.132237994G>A	ENSP00000326042:p.Arg243Gln		131954464	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	7.395	0.631548	0.14322	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.74209	-0.82	2.24	-1.18	0.09617	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.44688	U	0.000440	D	0.83792	0.5331	M	0.91249	3.19	0.31925	N	0.612915	D	0.89917	1.0	D	0.70016	0.967	T	0.79952	-0.1586	10	0.72032	D	0.01	.	4.0589	0.09829	0.2665:0.1951:0.5383:0.0	.	243	Q13748	TBA3C_HUMAN	Q	243	ENSP00000326042:R243Q	ENSP00000326042:R243Q	R	+	2	0	TUBA3D	131954464	0.879000	0.30193	0.614000	0.29051	0.020000	0.10135	3.620000	0.54203	-0.518000	0.06452	-1.031000	0.02408	CGA		0.567	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	
NCKAP5	344148	broad.mit.edu	37	2	133538652	133538652	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:133538652G>A	ENST00000409261.1	-	15	5395	c.5022C>T	c.(5020-5022)gcC>gcT	p.A1674A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1674A|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1674								p.A1674A(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTCCATATCGGCTTTGATTT	0.473																																					p.A1674A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5022T	2						.						93.0	93.0	93.0					2																	133538652		1899	4117	6016	133255122	SO:0001819	synonymous_variant	344148	exon15			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5022C>T	2.37:g.133538652G>A			133255122	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133538725	133538725	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:133538725G>T	ENST00000409261.1	-	15	5322	c.4949C>A	c.(4948-4950)tCt>tAt	p.S1650Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1650Y|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1650								p.S1650Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGCCCTGAGAACTGCCCTT	0.448																																					p.S1650Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4949A	2						.						114.0	116.0	115.0					2																	133538725		1925	4134	6059	133255195	SO:0001583	missense	344148	exon15			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4949C>A	2.37:g.133538725G>T	ENSP00000387128:p.Ser1650Tyr		133255195	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970680	0.53614	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12672	2.66;2.66	5.35	5.35	0.76521	.	0.000000	0.32190	U	0.006448	T	0.27900	0.0687	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01102	-1.1451	10	0.72032	D	0.01	.	17.4224	0.87518	0.0:0.0:1.0:0.0	.	1650	O14513	NCKP5_HUMAN	Y	1650	ENSP00000387128:S1650Y;ENSP00000380603:S1650Y	ENSP00000380603:S1650Y	S	-	2	0	NCKAP5	133255195	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	5.359000	0.66074	2.780000	0.95670	0.655000	0.94253	TCT		0.448	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133539774	133539774	+	Missense_Mutation	SNP	G	G	A	rs376182292		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:133539774G>A	ENST00000409261.1	-	14	4983	c.4610C>T	c.(4609-4611)gCa>gTa	p.A1537V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1537V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1537								p.A1537V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAAGACTTTTGCATCTTTCTT	0.393																																					p.A1537V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4610T	2						.	G	VAL/ALA,	0,3638		0,0,1819	93.0	95.0	94.0		4610,	3.5	0.0	2		94	1,8173		0,1,4086	no	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	64,	0,1,5905	AA,AG,GG		0.0122,0.0,0.0085	benign,	1537/1910,	133539774	1,11811	1819	4087	5906	133256244	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4610C>T	2.37:g.133539774G>A	ENSP00000387128:p.Ala1537Val		133256244	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990726	0.18966	0.0	1.22E-4	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10005	2.92;2.92	5.33	3.55	0.40652	.	0.433798	0.16675	U	0.204201	T	0.07413	0.0187	L	0.27053	0.805	0.09310	N	0.999993	B	0.17268	0.021	B	0.18263	0.021	T	0.34800	-0.9814	10	0.28530	T	0.3	.	6.9482	0.24530	0.1523:0.1423:0.7054:0.0	.	1537	O14513	NCKP5_HUMAN	V	1537	ENSP00000387128:A1537V;ENSP00000380603:A1537V	ENSP00000380603:A1537V	A	-	2	0	NCKAP5	133256244	0.222000	0.23652	0.020000	0.16555	0.977000	0.68977	1.185000	0.32065	0.842000	0.35045	0.591000	0.81541	GCA		0.393	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133540974	133540974	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:133540974G>T	ENST00000409261.1	-	14	3783	c.3410C>A	c.(3409-3411)gCt>gAt	p.A1137D	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1137D|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1137								p.A1137D(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCATGAGCACTTTGACA	0.498																																					p.A1137D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3410A	2						.						134.0	136.0	136.0					2																	133540974		2052	4203	6255	133257444	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3410C>A	2.37:g.133540974G>T	ENSP00000387128:p.Ala1137Asp		133257444	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021177	0.35701	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	5.26	3.45	0.39498	.	2.130700	0.03081	U	0.158536	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.30572	0.117	T	0.15009	-1.0452	10	0.28530	T	0.3	.	9.4106	0.38489	0.0754:0.1432:0.7813:0.0	.	1137	O14513	NCKP5_HUMAN	D	1137	ENSP00000387128:A1137D;ENSP00000380603:A1137D	ENSP00000380603:A1137D	A	-	2	0	NCKAP5	133257444	0.985000	0.35326	0.403000	0.26384	0.480000	0.33159	2.070000	0.41491	0.783000	0.33636	0.650000	0.86243	GCT		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133542399	133542399	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:133542399G>T	ENST00000409261.1	-	14	2358	c.1985C>A	c.(1984-1986)tCt>tAt	p.S662Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S662Y|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	662								p.S662Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTTCTGAAGAAGTCCTTTT	0.448																																					p.S662Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1985A	2						.						112.0	110.0	111.0					2																	133542399		1879	4106	5985	133258869	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1985C>A	2.37:g.133542399G>T	ENSP00000387128:p.Ser662Tyr		133258869	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	18.76	3.692704	0.68271	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.45668	0.89;0.89	5.64	5.64	0.86602	.	0.000000	0.38492	U	0.001662	T	0.55816	0.1944	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.56001	-0.8051	10	0.87932	D	0	.	18.0682	0.89397	0.0:0.0:1.0:0.0	.	662	O14513	NCKP5_HUMAN	Y	662	ENSP00000387128:S662Y;ENSP00000380603:S662Y	ENSP00000380603:S662Y	S	-	2	0	NCKAP5	133258869	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.728000	0.62000	2.937000	0.99478	0.651000	0.88453	TCT		0.448	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
CCNT2	905	broad.mit.edu	37	2	135710248	135710248	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135710248G>A	ENST00000264157.5	+	8	771	c.741G>A	c.(739-741)acG>acA	p.T247T	CCNT2_ENST00000295238.6_Silent_p.T247T|CCNT2_ENST00000537343.1_Silent_p.T72T	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	247					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T247T(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGGAGAAAACGCCTAATAGGT	0.308																																					p.T247T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741A	2						.						78.0	83.0	82.0					2																	135710248		2203	4300	6503	135426718	SO:0001819	synonymous_variant	905	exon8			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.741G>A	2.37:g.135710248G>A			135426718	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Silent	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	G	7.698	0.692541	0.15039	.	.	ENSG00000082258	ENST00000452521;ENST00000438691	.	.	.	5.7	-2.26	0.06867	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30937	-0.9961	4	.	.	.	.	2.5371	0.04716	0.4427:0.0904:0.3064:0.1605	.	.	.	.	T	70;38	.	.	A	+	1	0	CCNT2	135426718	0.001000	0.12720	0.991000	0.47740	0.854000	0.48673	-1.478000	0.02329	-0.143000	0.11334	0.650000	0.86243	GCC		0.308	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
CCNT2	905	broad.mit.edu	37	2	135711329	135711329	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135711329C>A	ENST00000264157.5	+	9	1334	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	CCNT2_ENST00000295238.6_Missense_Mutation_p.S435Y|CCNT2_ENST00000537343.1_Missense_Mutation_p.S260Y	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	435					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S435Y(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		CAGAAAATGTCTTTAGATAAA	0.388																																					p.S435Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304A	2						.						46.0	50.0	49.0					2																	135711329		2197	4299	6496	135427799	SO:0001583	missense	905	exon9			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1304C>A	2.37:g.135711329C>A	ENSP00000264157:p.Ser435Tyr		135427799	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266648	0.59540	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.39229	1.09;1.14	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.74023	0.912;0.959;0.982	T	0.67821	-0.5571	10	0.87932	D	0	.	19.8769	0.96880	0.0:1.0:0.0:0.0	.	260;435;435	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	Y	260;435;435	ENSP00000295238:S435Y;ENSP00000264157:S435Y	ENSP00000264157:S435Y	S	+	2	0	CCNT2	135427799	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.192000	0.77771	2.712000	0.92718	0.650000	0.86243	TCT		0.388	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
MAP3K19	80122	broad.mit.edu	37	2	135738854	135738854	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135738854T>G	ENST00000375845.3	-	9	3487	c.3457A>C	c.(3457-3459)Aac>Cac	p.N1153H	MAP3K19_ENST00000392917.3_Missense_Mutation_p.N285H|MAP3K19_ENST00000375844.3_Missense_Mutation_p.N335H|MAP3K19_ENST00000315513.3_Missense_Mutation_p.N14H|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N1040H|MAP3K19_ENST00000392918.3_Missense_Mutation_p.N287H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N1153H(1)|p.N505H(1)									CCAAAACGGTTTATAATACTA	0.423																																					p.N1153H												YSK4,stomach,NS,Substitution - Missense,+1	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3457C	2						.						120.0	118.0	119.0					2																	135738854		2203	4300	6503	135455324	SO:0001583	missense	80122	exon9			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3457A>C	2.37:g.135738854T>G	ENSP00000365005:p.Asn1153His		135455324	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503299	0.26949	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.126714	0.35739	N	0.003019	T	0.41534	0.1163	N	0.10707	0.03	0.20196	N	0.999926	B;B;P;B;P	0.39480	0.158;0.452;0.675;0.417;0.507	B;B;B;B;B	0.37550	0.071;0.228;0.087;0.087;0.253	T	0.42172	-0.9467	10	0.49607	T	0.09	.	11.2765	0.49170	0.0:0.0:0.1524:0.8476	.	285;1040;287;335;1153	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	H	1153;1040;335;287;285;543;14	ENSP00000365005:N1153H;ENSP00000351140:N1040H;ENSP00000365004:N335H;ENSP00000376650:N287H;ENSP00000376649:N285H;ENSP00000392827:N543H;ENSP00000321160:N14H	ENSP00000321160:N14H	N	-	1	0	YSK4	135455324	0.980000	0.34600	1.000000	0.80357	0.754000	0.42855	0.611000	0.24268	2.192000	0.70111	0.460000	0.39030	AAC		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
MAP3K19	80122	broad.mit.edu	37	2	135741333	135741333	+	Missense_Mutation	SNP	C	C	A	rs557761734		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135741333C>A	ENST00000375845.3	-	8	3165	c.3135G>T	c.(3133-3135)aaG>aaT	p.K1045N	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Missense_Mutation_p.K227N|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K1062N|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K932N|MAP3K19_ENST00000392918.3_Missense_Mutation_p.K227N	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1045							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K1045N(1)|p.K397N(1)									AAAATATCTTCTTTTCATTTG	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14179	0.0		0.0	False		,,,				2504	0.0				p.K1045N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3135T	2						.						98.0	99.0	99.0					2																	135741333		2203	4300	6503	135457803	SO:0001583	missense	80122	exon8			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3135G>T	2.37:g.135741333C>A	ENSP00000365005:p.Lys1045Asn		135457803	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729169	0.15507	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392915;ENST00000437365	T;T;T;T;T;T	0.74106	-0.6;-0.59;-0.53;-0.81;1.66;-0.72	5.39	2.5	0.30297	Protein kinase-like domain (1);	0.121115	0.37261	N	0.002165	T	0.68531	0.3011	L	0.60455	1.87	0.58432	D	0.999999	B;B;B;B;B	0.32382	0.169;0.005;0.368;0.005;0.105	B;B;B;B;B	0.36845	0.063;0.011;0.234;0.011;0.028	T	0.64024	-0.6504	10	0.56958	D	0.05	.	6.8407	0.23961	0.4809:0.4372:0.0:0.0818	.	932;227;1062;227;1045	Q56UN5-3;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	N	1045;932;227;227;1062;435	ENSP00000365005:K1045N;ENSP00000351140:K932N;ENSP00000365004:K227N;ENSP00000376650:K227N;ENSP00000376647:K1062N;ENSP00000392827:K435N	ENSP00000351140:K932N	K	-	3	2	YSK4	135457803	0.764000	0.28473	0.997000	0.53966	0.104000	0.19210	0.694000	0.25512	0.349000	0.23975	0.549000	0.68633	AAG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
MAP3K19	80122	broad.mit.edu	37	2	135744284	135744284	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135744284T>C	ENST00000375845.3	-	7	2188	c.2158A>G	c.(2158-2160)Aaa>Gaa	p.K720E	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K737E|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K607E|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	720							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K72E(1)|p.K720E(1)									ATATGTGTTTTTTTCTGAGAA	0.383																																					p.K720E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2158G	2						.						107.0	107.0	107.0					2																	135744284		2203	4300	6503	135460754	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2158A>G	2.37:g.135744284T>C	ENSP00000365005:p.Lys720Glu		135460754	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901708	0.17760	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.74106	-0.72;-0.7;1.64;-0.81	5.67	5.67	0.87782	.	0.226096	0.31484	N	0.007571	T	0.66268	0.2772	L	0.29908	0.895	0.80722	D	1	B;P;B	0.41848	0.112;0.763;0.068	B;B;B	0.42361	0.079;0.385;0.036	T	0.69727	-0.5067	10	0.56958	D	0.05	.	11.8581	0.52451	0.0:0.0:0.1458:0.8542	.	607;737;720	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	E	720;607;737;110	ENSP00000365005:K720E;ENSP00000351140:K607E;ENSP00000376647:K737E;ENSP00000392827:K110E	ENSP00000351140:K607E	K	-	1	0	YSK4	135460754	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	2.495000	0.45337	2.155000	0.67459	0.459000	0.35465	AAA		0.383	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
MAP3K19	80122	broad.mit.edu	37	2	135745456	135745456	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135745456G>T	ENST00000375845.3	-	7	1016	c.986C>A	c.(985-987)tCt>tAt	p.S329Y	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S346Y|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S216Y|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	329							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S329Y(1)									AGACACCAAAGACTGCCCTTT	0.403																																					p.S329Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986A	2						.						64.0	66.0	65.0					2																	135745456		2203	4300	6503	135461926	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.986C>A	2.37:g.135745456G>T	ENSP00000365005:p.Ser329Tyr		135461926	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736418	0.15574	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72394	-0.65;-0.63;1.71	4.67	1.7	0.24286	.	0.196285	0.25361	N	0.031227	T	0.60612	0.2282	L	0.46157	1.445	0.09310	N	0.999999	P;P;P	0.43701	0.688;0.815;0.561	B;B;B	0.43701	0.246;0.428;0.125	T	0.51521	-0.8695	10	0.40728	T	0.16	.	4.9567	0.14044	0.2433:0.2973:0.4594:0.0	.	216;346;329	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	329;216;346	ENSP00000365005:S329Y;ENSP00000351140:S216Y;ENSP00000376647:S346Y	ENSP00000351140:S216Y	S	-	2	0	YSK4	135461926	0.001000	0.12720	0.002000	0.10522	0.108000	0.19459	0.659000	0.24994	0.524000	0.28502	0.637000	0.83480	TCT		0.403	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
MAP3K19	80122	broad.mit.edu	37	2	135745735	135745735	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135745735C>A	ENST00000375845.3	-	7	737	c.707G>T	c.(706-708)aGa>aTa	p.R236I	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R253I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R123I|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	236							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R236I(1)									TGGAATGTTTCTTTCTTTTTC	0.468																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	2						.						100.0	113.0	108.0					2																	135745735		2203	4300	6503	135462205	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.707G>T	2.37:g.135745735C>A	ENSP00000365005:p.Arg236Ile		135462205	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	5.540	0.284522	0.10513	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72942	-0.7;-0.69;1.65	4.96	0.796	0.18648	.	0.313760	0.23076	N	0.052210	T	0.58337	0.2115	L	0.35854	1.095	0.19300	N	0.999977	P;P;P	0.49358	0.85;0.923;0.766	B;P;B	0.45276	0.395;0.475;0.222	T	0.53975	-0.8362	10	0.87932	D	0	.	5.2682	0.15611	0.1295:0.5583:0.0:0.3122	.	123;253;236	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	I	236;123;253	ENSP00000365005:R236I;ENSP00000351140:R123I;ENSP00000376647:R253I	ENSP00000351140:R123I	R	-	2	0	YSK4	135462205	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.045000	0.12003	-0.032000	0.13758	0.557000	0.71058	AGA		0.468	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
RAB3GAP1	22930	broad.mit.edu	37	2	135851207	135851207	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135851207A>C	ENST00000264158.8	+	5	349	c.306A>C	c.(304-306)caA>caC	p.Q102H	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Q102H|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Q58H	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	102					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.Q102H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AATCTATGCAAGATTTGCTGG	0.353																																					p.Q102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A306C	2						.						195.0	181.0	186.0					2																	135851207		2203	4300	6503	135567677	SO:0001583	missense	22930	exon5			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.306A>C	2.37:g.135851207A>C	ENSP00000264158:p.Gln102His		135567677	NM_012233	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.824147	0.50739	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46451	0.89;0.87;0.89	5.63	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	L	0.51422	1.61	0.42704	D	0.993625	P;B	0.37955	0.612;0.303	B;B	0.37091	0.241;0.241	T	0.05550	-1.0878	10	0.16896	T	0.51	-17.2886	8.3479	0.32284	0.5982:0.0:0.4018:0.0	.	102;102	C9J837;Q15042	.;RB3GP_HUMAN	H	102;58;102	ENSP00000264158:Q102H;ENSP00000444306:Q58H;ENSP00000411418:Q102H	ENSP00000264158:Q102H	Q	+	3	2	RAB3GAP1	135567677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.972000	0.29409	0.491000	0.27793	0.533000	0.62120	CAA		0.353	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
RAB3GAP1	22930	broad.mit.edu	37	2	135872890	135872890	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135872890G>T	ENST00000264158.8	+	7	630	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R196I|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R152I	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	196					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R196I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTCATCTTAGAAAAGTGCCA	0.403																																					p.R196I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587T	2						.						157.0	140.0	146.0					2																	135872890		2203	4300	6503	135589360	SO:0001583	missense	22930	exon7			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.587G>T	2.37:g.135872890G>T	ENSP00000264158:p.Arg196Ile		135589360	NM_012233	A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929588	0.92389	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.51325	0.71;0.72;0.71	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.55481	1.735	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.45506	0.483;0.483	T	0.57329	-0.7830	10	0.59425	D	0.04	-1.5292	18.6179	0.91310	0.0:0.0:1.0:0.0	.	196;196	C9J837;Q15042	.;RB3GP_HUMAN	I	196;152;196	ENSP00000264158:R196I;ENSP00000444306:R152I;ENSP00000411418:R196I	ENSP00000264158:R196I	R	+	2	0	RAB3GAP1	135589360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.764000	0.85297	2.482000	0.83794	0.650000	0.86243	AGA		0.403	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	
ZRANB3	84083	broad.mit.edu	37	2	135965372	135965372	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:135965372G>T	ENST00000264159.6	-	19	2757	c.2641C>A	c.(2641-2643)Cta>Ata	p.L881I	ZRANB3_ENST00000401392.1_Missense_Mutation_p.L879I|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L879I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	881					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.L344I(1)|p.L881I(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TATGGATTTAGAAATGGGACA	0.388																																					p.L881I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2641A	2						.						75.0	70.0	71.0					2																	135965372		1903	4130	6033	135681842	SO:0001583	missense	84083	exon19			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2641C>A	2.37:g.135965372G>T	ENSP00000264159:p.Leu881Ile		135681842	NM_032143	B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276135	0.40294	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91011	-2.77;-2.77;-2.75	6.03	5.15	0.70609	.	0.483859	0.19460	N	0.113720	D	0.90290	0.6963	M	0.73962	2.25	0.22446	N	0.999093	B;B	0.26400	0.148;0.145	B;B	0.29598	0.053;0.104	D	0.83591	0.0123	10	0.51188	T	0.08	-20.0611	13.3259	0.60459	0.0733:0.0:0.9267:0.0	.	881;879	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	344;344;879;881;879	ENSP00000383979:L879I;ENSP00000264159:L881I;ENSP00000441320:L879I	ENSP00000264159:L881I	L	-	1	2	ZRANB3	135681842	0.021000	0.18746	0.130000	0.21974	0.135000	0.20990	0.980000	0.29513	1.563000	0.49615	-0.140000	0.14226	CTA		0.388	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
R3HDM1	23518	broad.mit.edu	37	2	136374262	136374262	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136374262C>T	ENST00000264160.4	+	5	608	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	R3HDM1_ENST00000409606.1_Missense_Mutation_p.R80W|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000329971.3_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	80							poly(A) RNA binding (GO:0044822)	p.R80W(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAAGCTAGTTCGGAGCCTTGC	0.393																																					p.R80W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C238T	2						.						54.0	50.0	51.0					2																	136374262		2203	4300	6503	136090732	SO:0001583	missense	23518	exon5			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.238C>T	2.37:g.136374262C>T	ENSP00000264160:p.Arg80Trp		136090732	NM_015361	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154337	0.78114	.	.	ENSG00000048991	ENST00000264160;ENST00000409606	T;T	0.56444	0.48;0.46	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.72894	2.215	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.50231	0.635;0.635	T	0.67133	-0.5747	10	0.87932	D	0	-11.9555	14.6469	0.68767	0.1455:0.8545:0.0:0.0	.	80;80	E9PBB4;Q15032	.;R3HD1_HUMAN	W	80	ENSP00000264160:R80W;ENSP00000387010:R80W	ENSP00000264160:R80W	R	+	1	2	R3HDM1	136090732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.023000	0.76437	2.689000	0.91719	0.585000	0.79938	CGG		0.393	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	
R3HDM1	23518	broad.mit.edu	37	2	136396663	136396663	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136396663G>T	ENST00000264160.4	+	14	1560	c.1190G>T	c.(1189-1191)aGc>aTc	p.S397I	R3HDM1_ENST00000409606.1_Missense_Mutation_p.S397I|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S353I|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S341I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S353I	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	397							poly(A) RNA binding (GO:0044822)	p.S397I(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCTGGAAGCAGCAAAAGCATA	0.418																																					p.S397I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1190T	2						.						77.0	84.0	82.0					2																	136396663		2202	4300	6502	136113133	SO:0001583	missense	23518	exon14			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1190G>T	2.37:g.136396663G>T	ENSP00000264160:p.Ser397Ile		136113133	NM_015361	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.75|18.75	3.690775|3.690775	0.68271|0.68271	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000441871;ENST00000429703;ENST00000425804|ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	.|T;T;T;T;T	.|0.33654	.|1.42;1.4;1.42;1.4;1.4	5.31|5.31	4.4|4.4	0.53042|0.53042	.|.	.|0.035497	.|0.85682	.|D	.|0.000000	T|T	0.51839|0.51839	0.1698|0.1698	L|L	0.50333|0.50333	1.59|1.59	0.33876|0.33876	D|D	0.635557|0.635557	.|P;D;D;D	.|0.71674	.|0.937;0.997;0.998;0.998	.|P;P;D;D	.|0.78314	.|0.735;0.895;0.991;0.991	T|T	0.63060|0.63060	-0.6721|-0.6721	5|10	.|0.38643	.|T	.|0.18	-1.1046|-1.1046	13.116|13.116	0.59299|0.59299	0.0806:0.0:0.9194:0.0|0.0806:0.0:0.9194:0.0	.|.	.|353;397;341;397	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	H|I	88;85;65|353;353;397;353;341;397	.|ENSP00000386457:S353I;ENSP00000264160:S397I;ENSP00000331396:S353I;ENSP00000386877:S341I;ENSP00000387010:S397I	.|ENSP00000264160:S397I	Q|S	+|+	3|2	2|0	R3HDM1|R3HDM1	136113133|136113133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.939000|4.939000	0.63526|0.63526	1.163000|1.163000	0.42636|0.42636	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.418	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361	
LCT	3938	broad.mit.edu	37	2	136545931	136545931	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136545931C>T	ENST00000264162.2	-	17	5757	c.5747G>A	c.(5746-5748)cGa>cAa	p.R1916Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1916					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.R1916Q(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGTTGGCTTCGTTGTGTTTT	0.463																																					p.R1916Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5747A	2						.						243.0	231.0	235.0					2																	136545931		2203	4300	6503	136262401	SO:0001583	missense	3938	exon17			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5747G>A	2.37:g.136545931C>T	ENSP00000264162:p.Arg1916Gln		136262401	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827887	0.16749	.	.	ENSG00000115850	ENST00000264162	T	0.26660	1.72	5.64	1.82	0.25136	.	0.737088	0.12638	N	0.451587	T	0.09555	0.0235	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.36768	-0.9734	10	0.20046	T	0.44	0.0586	5.3304	0.15930	0.0724:0.2707:0.5186:0.1383	.	1916	P09848	LPH_HUMAN	Q	1916	ENSP00000264162:R1916Q	ENSP00000264162:R1916Q	R	-	2	0	LCT	136262401	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	0.400000	0.20932	0.052000	0.16007	-0.796000	0.03273	CGA		0.463	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136566282	136566282	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136566282C>A	ENST00000264162.2	-	8	3645	c.3635G>T	c.(3634-3636)aGa>aTa	p.R1212I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1212	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.R1212I(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGCACGATTCTGGAGTAGTA	0.582																																					p.R1212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3635T	2						.						205.0	175.0	185.0					2																	136566282		2203	4300	6503	136282752	SO:0001583	missense	3938	exon8			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3635G>T	2.37:g.136566282C>A	ENSP00000264162:p.Arg1212Ile		136282752	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	7.784	0.710079	0.15239	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.33654	1.4	5.76	0.0582	0.14326	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.342024	0.35291	N	0.003317	T	0.25494	0.0620	L	0.29908	0.895	0.26718	N	0.970838	B	0.30727	0.292	B	0.38500	0.275	T	0.17228	-1.0376	10	0.52906	T	0.07	-2.5035	4.8827	0.13688	0.1466:0.3758:0.0:0.4776	rs35564057	1212	P09848	LPH_HUMAN	I	1212;644	ENSP00000264162:R1212I	ENSP00000264162:R1212I	R	-	2	0	LCT	136282752	0.000000	0.05858	0.001000	0.08648	0.317000	0.28152	-0.151000	0.10175	0.053000	0.16036	-0.253000	0.11424	AGA		0.582	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136567502	136567502	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136567502G>A	ENST00000264162.2	-	8	2425	c.2415C>T	c.(2413-2415)ttC>ttT	p.F805F	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	805	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.F805F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAGGGCCTTCGAAGCCATCAA	0.448																																					p.F805F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2415T	2						.																																			136283972	SO:0001819	synonymous_variant	3938	exon8			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2415C>T	2.37:g.136567502G>A			136283972	NM_002299	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.448	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136594269	136594269	+	Silent	SNP	G	G	A	rs201744785		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136594269G>A	ENST00000264162.2	-	1	481	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	157	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.F157F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGTGGAAGGCGAATGTGGCAT	0.582																																					p.F157F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	2						.						106.0	94.0	98.0					2																	136594269		2203	4300	6503	136310739	SO:0001819	synonymous_variant	3938	exon1			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.471C>T	2.37:g.136594269G>A			136310739	NM_002299	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.582	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
MCM6	4175	broad.mit.edu	37	2	136614333	136614333	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:136614333C>T	ENST00000264156.2	-	11	1651	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	531	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.D531N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AAGAAGAGATCGAATCGGGAC	0.408																																					p.D531N	Ovarian(196;141 2104 8848 24991 25939)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1591A	2						.						134.0	130.0	132.0					2																	136614333		2203	4300	6503	136330803	SO:0001583	missense	4175	exon11				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1591G>A	2.37:g.136614333C>T	ENSP00000264156:p.Asp531Asn		136330803	NM_005915	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452722	0.96223	.	.	ENSG00000076003	ENST00000264156	T	0.18174	2.23	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82808	-0.0274	10	0.87932	D	0	-24.4756	19.9601	0.97247	0.0:1.0:0.0:0.0	.	531	Q14566	MCM6_HUMAN	N	531	ENSP00000264156:D531N	ENSP00000264156:D531N	D	-	1	0	MCM6	136330803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.720000	0.93068	0.655000	0.94253	GAT		0.408	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
THSD7B	80731	broad.mit.edu	37	2	137814327	137814327	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:137814327C>T	ENST00000409968.1	+	3	655	c.477C>T	c.(475-477)tgC>tgT	p.C159C	THSD7B_ENST00000543459.1_Silent_p.C18C|THSD7B_ENST00000413152.2_Silent_p.C128C|THSD7B_ENST00000272643.3_Silent_p.C159C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	159	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C159C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGAAATATGCGAACACTTTG	0.522																																					p.C128C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C384T	2						.						143.0	147.0	146.0					2																	137814327		2030	4184	6214	137530797	SO:0001819	synonymous_variant	80731	exon2					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.477C>T	2.37:g.137814327C>T			137530797	NM_001080427		Silent	SNP	ENST00000409968.1	37																																																																																					0.522	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
THSD7B	80731	broad.mit.edu	37	2	137917830	137917830	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:137917830C>T	ENST00000409968.1	+	6	1595	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.P442S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P473S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	473	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.P473S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGCCCCGTTGCCCTCTCAGCT	0.517																																					p.P442S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1324T	2						.						170.0	168.0	169.0					2																	137917830		2022	4173	6195	137634300	SO:0001583	missense	80731	exon5					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1417C>T	2.37:g.137917830C>T	ENSP00000387145:p.Pro473Ser		137634300	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	4.534	0.099194	0.08681	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.59502	0.26;0.26;0.26	5.96	2.76	0.32466	.	0.192472	0.56097	D	0.000039	T	0.25044	0.0608	N	0.01438	-0.865	0.35270	D	0.78041	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20739	-1.0266	10	0.09590	T	0.72	.	11.1064	0.48205	0.1078:0.2224:0.6698:0.0	.	473;442	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	473;473;442	ENSP00000387145:P473S;ENSP00000272643:P473S;ENSP00000413841:P442S	ENSP00000272643:P473S	P	+	1	0	THSD7B	137634300	0.065000	0.20965	0.710000	0.30468	0.029000	0.11900	0.291000	0.18994	0.853000	0.35312	-0.171000	0.13296	CCC		0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
THSD7B	80731	broad.mit.edu	37	2	138000044	138000044	+	Missense_Mutation	SNP	G	G	A	rs76693568	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:138000044G>A	ENST00000409968.1	+	10	2346	c.2168G>A	c.(2167-2169)cGa>cAa	p.R723Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R692Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R723Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	723	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.R723Q(2)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATTCTACTCGACCTGAAACT	0.458													G|||	21	0.00419329	0.0	0.0	5008	,	,		19203	0.0208		0.0	False		,,,				2504	0.0				p.R692Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.G2075A	2						.						138.0	130.0	133.0					2																	138000044		1958	4140	6098	137716514	SO:0001583	missense	80731	exon9					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2168G>A	2.37:g.138000044G>A	ENSP00000387145:p.Arg723Gln		137716514	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		15	0.006868131868131868	0	0.0	0	0.0	15	0.026223776223776224	0	0.0	G	22.5	4.303943	0.81136	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61627	0.09;0.09;0.09	5.78	5.78	0.91487	.	0.052700	0.85682	D	0.000000	T	0.53834	0.1821	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.65034	-0.6266	10	0.40728	T	0.16	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	723;692	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	723;723;692	ENSP00000387145:R723Q;ENSP00000272643:R723Q;ENSP00000413841:R692Q	ENSP00000272643:R723Q	R	+	2	0	THSD7B	137716514	1.000000	0.71417	0.964000	0.40570	0.189000	0.23516	9.230000	0.95299	2.749000	0.94314	0.655000	0.94253	CGA		0.458	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP1B	53353	broad.mit.edu	37	2	141055480	141055480	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141055480G>T	ENST00000389484.3	-	84	13835	c.12864C>A	c.(12862-12864)gtC>gtA	p.V4288V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4288	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V4288V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTCACAGACTGTCTTAC	0.468										TSP Lung(27;0.18)																											p.V4288V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12864A	2						.						127.0	131.0	130.0					2																	141055480		2203	4300	6503	140771950	SO:0001819	synonymous_variant	53353	exon84			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12864C>A	2.37:g.141055480G>T			140771950	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304345	0.23736	.	.	ENSG00000168702	ENST00000437977;ENST00000442974	.	.	.	6.08	4.25	0.50352	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50482	-0.8823	4	.	.	.	.	5.1534	0.15021	0.1299:0.1185:0.6289:0.1226	.	.	.	.	Y	520;20	.	.	S	-	2	0	LRP1B	140771950	0.801000	0.28930	1.000000	0.80357	0.978000	0.69477	-0.107000	0.10873	0.869000	0.35703	0.655000	0.94253	TCT		0.468	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141081480	141081480	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141081480G>A	ENST00000389484.3	-	81	13467	c.12496C>T	c.(12496-12498)Cgt>Tgt	p.R4166C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4166					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R4166C(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTTATAACGATGAGATATC	0.244										TSP Lung(27;0.18)																											p.R4166C	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C12496T	2						.						50.0	57.0	55.0					2																	141081480		2201	4288	6489	140797950	SO:0001583	missense	53353	exon81			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12496C>T	2.37:g.141081480G>A	ENSP00000374135:p.Arg4166Cys		140797950	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576837	0.86645	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.37	5.37	0.77165	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.92335	0.7568	M	0.61703	1.905	0.58432	D	0.999999	D	0.71674	0.998	P	0.50791	0.65	D	0.92577	0.6071	10	0.56958	D	0.05	.	19.4645	0.94932	0.0:0.0:1.0:0.0	.	4166	Q9NZR2	LRP1B_HUMAN	C	4166;4104	ENSP00000374135:R4166C	ENSP00000374135:R4166C	R	-	1	0	LRP1B	140797950	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.363000	0.97131	2.679000	0.91253	0.655000	0.94253	CGT		0.244	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141122262	141122262	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141122262C>A	ENST00000389484.3	-	72	12070	c.11099G>T	c.(11098-11100)gGa>gTa	p.G3700V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3700	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G3700V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGTTGTCTCCACAGTCGTC	0.408										TSP Lung(27;0.18)																											p.G3700V	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11099T	2						.						111.0	109.0	110.0					2																	141122262		2203	4299	6502	140838732	SO:0001583	missense	53353	exon72			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11099G>T	2.37:g.141122262C>A	ENSP00000374135:p.Gly3700Val		140838732	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643641	0.87859	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95482	-3.72	5.58	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97041	0.9757	10	0.35671	T	0.21	.	14.8134	0.70013	0.0:0.9304:0.0:0.0696	.	3700	Q9NZR2	LRP1B_HUMAN	V	3700;3638	ENSP00000374135:G3700V	ENSP00000374135:G3700V	G	-	2	0	LRP1B	140838732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	1.500000	0.48636	0.655000	0.94253	GGA		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141267580	141267580	+	Missense_Mutation	SNP	C	C	T	rs143765896	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141267580C>T	ENST00000389484.3	-	52	9286	c.8315G>A	c.(8314-8316)cGt>cAt	p.R2772H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2772	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R2772H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACGCAGGCACGAGAGCCCTG	0.512										TSP Lung(27;0.18)			T|||	3	0.000599042	0.0015	0.0	5008	,	,		19641	0.0		0.001	False		,,,				2504	0.0				p.R2772H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8315A	2						.	T	HIS/ARG	4,4402	825.9+/-416.6	0,4,2199	125.0	114.0	118.0		8315	0.0	0.8	2	dbSNP_134	118	0,8600		0,0,4300	yes	missense	LRP1B	NM_018557.2	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	2772/4600	141267580	4,13002	2203	4300	6503	140984050	SO:0001583	missense	53353	exon52			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8315G>A	2.37:g.141267580C>T	ENSP00000374135:p.Arg2772His		140984050	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	7.156	0.584653	0.13749	9.08E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.41758	0.99	6.17	0.0293	0.14162	.	0.148373	0.46145	N	0.000303	T	0.18002	0.0432	N	0.04820	-0.15	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.12766	T	0.61	.	11.0651	0.47970	0.0:0.3639:0.0:0.6361	.	2772	Q9NZR2	LRP1B_HUMAN	H	2772;2710	ENSP00000374135:R2772H	ENSP00000374135:R2772H	R	-	2	0	LRP1B	140984050	1.000000	0.71417	0.845000	0.33349	0.948000	0.59901	1.239000	0.32719	-0.221000	0.09973	-0.254000	0.11334	CGT		0.512	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141283846	141283846	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141283846C>A	ENST00000389484.3	-	48	8807	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2612	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q2612H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCTATGTTCTGGTTGCATC	0.418										TSP Lung(27;0.18)																											p.Q2612H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7836T	2						.						164.0	141.0	149.0					2																	141283846		2203	4300	6503	141000316	SO:0001583	missense	53353	exon48			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7836G>T	2.37:g.141283846C>A	ENSP00000374135:p.Gln2612His		141000316	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440408	0.63067	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95554	-3.74	5.08	3.93	0.45458	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.94118	0.8114	N	0.17922	0.545	0.47862	D	0.999536	D	0.76494	0.999	D	0.87578	0.998	D	0.91502	0.5220	10	0.28530	T	0.3	.	8.5839	0.33646	0.0:0.7936:0.0:0.2064	.	2612	Q9NZR2	LRP1B_HUMAN	H	2612;2550	ENSP00000374135:Q2612H	ENSP00000374135:Q2612H	Q	-	3	2	LRP1B	141000316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	1.134000	0.42165	0.650000	0.86243	CAG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141291605	141291605	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141291605C>T	ENST00000389484.3	-	47	8718	c.7747G>A	c.(7747-7749)Gaa>Aaa	p.E2583K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2583	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E2583K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATCTAATTCATCAGAGTTG	0.418										TSP Lung(27;0.18)																											p.E2583K	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7747A	2						.						118.0	112.0	114.0					2																	141291605		2203	4300	6503	141008075	SO:0001583	missense	53353	exon47			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7747G>A	2.37:g.141291605C>T	ENSP00000374135:p.Glu2583Lys		141008075	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553193	0.96501	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97924	-4.61	5.42	5.42	0.78866	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99348	0.9771	H	0.98426	4.23	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98446	1.0589	10	0.66056	D	0.02	.	19.5918	0.95518	0.0:1.0:0.0:0.0	.	2583	Q9NZR2	LRP1B_HUMAN	K	2583;2521	ENSP00000374135:E2583K	ENSP00000374135:E2583K	E	-	1	0	LRP1B	141008075	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.399000	0.79935	2.700000	0.92200	0.563000	0.77884	GAA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141359089	141359089	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141359089C>T	ENST00000389484.3	-	42	7890	c.6919G>A	c.(6919-6921)Gac>Aac	p.D2307N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2307					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D2307N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTTCCCTGTCAAATGCTCCA	0.468										TSP Lung(27;0.18)																											p.D2307N	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6919A	2						.						154.0	128.0	137.0					2																	141359089		2203	4300	6503	141075559	SO:0001583	missense	53353	exon42			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6919G>A	2.37:g.141359089C>T	ENSP00000374135:p.Asp2307Asn		141075559	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.533	1.111268	0.20714	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.04	1.97	0.26223	Six-bladed beta-propeller, TolB-like (1);	0.466272	0.22246	N	0.062610	T	0.70587	0.3241	N	0.02916	-0.46	0.23975	N	0.996299	B	0.02656	0.0	B	0.01281	0.0	T	0.57917	-0.7728	10	0.11485	T	0.65	.	3.967	0.09436	0.0:0.32:0.4746:0.2054	.	2307	Q9NZR2	LRP1B_HUMAN	N	2307;2245	ENSP00000374135:D2307N	ENSP00000374135:D2307N	D	-	1	0	LRP1B	141075559	0.781000	0.28676	0.486000	0.27416	0.959000	0.62525	0.256000	0.18351	1.206000	0.43276	0.561000	0.74099	GAC		0.468	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141607890	141607890	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141607890T>C	ENST00000389484.3	-	29	5691	c.4720A>G	c.(4720-4722)Aaa>Gaa	p.K1574E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1574					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K1574E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAGAAATTTTTTCATTTCT	0.294										TSP Lung(27;0.18)																											p.K1574E	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4720G	2						.						37.0	36.0	36.0					2																	141607890		2202	4300	6502	141324360	SO:0001583	missense	53353	exon29			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4720A>G	2.37:g.141607890T>C	ENSP00000374135:p.Lys1574Glu		141324360	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288061	0.59976	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92595	-2.54;-3.07	5.32	5.32	0.75619	.	0.072807	0.53938	U	0.000049	D	0.83681	0.5307	L	0.32530	0.975	0.38275	D	0.942259	B;P	0.43094	0.021;0.799	B;B	0.32762	0.013;0.152	D	0.84576	0.0658	10	0.06099	T	0.92	.	15.2914	0.73868	0.0:0.0:0.0:1.0	.	757;1574	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	E	1574;1512;719	ENSP00000374135:K1574E;ENSP00000413239:K719E	ENSP00000374135:K1574E	K	-	1	0	LRP1B	141324360	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.012000	0.70767	2.032000	0.59987	0.260000	0.18958	AAA		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141641429	141641429	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141641429C>T	ENST00000389484.3	-	25	5097	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1376					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A1376T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTCCATGGCTCCTGCTATT	0.418										TSP Lung(27;0.18)																											p.A1376T	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4126A	2						.						160.0	159.0	159.0					2																	141641429		2203	4300	6503	141357899	SO:0001583	missense	53353	exon25			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4126G>A	2.37:g.141641429C>T	ENSP00000374135:p.Ala1376Thr		141357899	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170213	0.57584	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96200	-3.94;-3.94	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.143679	0.46758	D	0.000278	D	0.92374	0.7580	N	0.14661	0.345	0.41736	D	0.989584	B;P	0.43231	0.387;0.801	P;B	0.44921	0.464;0.438	D	0.92069	0.5663	10	0.38643	T	0.18	.	20.0553	0.97649	0.0:1.0:0.0:0.0	.	559;1376	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	T	1376;1314;521	ENSP00000374135:A1376T;ENSP00000413239:A521T	ENSP00000374135:A1376T	A	-	1	0	LRP1B	141357899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.707000	0.84623	2.803000	0.96430	0.655000	0.94253	GCC		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141747188	141747188	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141747188T>C	ENST00000389484.3	-	17	3654	c.2683A>G	c.(2683-2685)Aat>Gat	p.N895D	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	895	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N895D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGCGATTATTCTGGCATTTA	0.398										TSP Lung(27;0.18)																											p.N895D	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2683G	2						.						126.0	118.0	121.0					2																	141747188		2203	4300	6503	141463658	SO:0001583	missense	53353	exon17			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2683A>G	2.37:g.141747188T>C	ENSP00000374135:p.Asn895Asp		141463658	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	35	5.435274	0.96150	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.69	5.69	0.88448	.	0.062767	0.64402	U	0.000007	D	0.89438	0.6715	L	0.53617	1.68	0.50039	D	0.999849	P	0.47484	0.896	B	0.43301	0.415	D	0.89853	0.4011	10	0.49607	T	0.09	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	895	Q9NZR2	LRP1B_HUMAN	D	895;833	ENSP00000374135:N895D	ENSP00000374135:N895D	N	-	1	0	LRP1B	141463658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.947000	0.87758	2.291000	0.77112	0.533000	0.62120	AAT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141986974	141986974	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:141986974T>G	ENST00000389484.3	-	6	1599	c.628A>C	c.(628-630)Aat>Cat	p.N210H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	210					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.N210H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTCAAAATTTGCAATTAAT	0.294										TSP Lung(27;0.18)																											p.N210H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A628C	2						.						32.0	35.0	34.0					2																	141986974		2196	4281	6477	141703444	SO:0001583	missense	53353	exon6			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.628A>C	2.37:g.141986974T>G	ENSP00000374135:p.Asn210His		141703444	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908571	0.52439	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91407	-2.84	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.236010	0.35870	U	0.002940	D	0.87928	0.6301	L	0.57536	1.79	0.26118	N	0.980593	P	0.36733	0.567	B	0.33521	0.165	T	0.82729	-0.0313	10	0.49607	T	0.09	.	14.1588	0.65434	0.0:0.0:0.0:1.0	.	210	Q9NZR2	LRP1B_HUMAN	H	210;148	ENSP00000374135:N210H	ENSP00000374135:N210H	N	-	1	0	LRP1B	141703444	1.000000	0.71417	0.997000	0.53966	0.372000	0.29890	4.409000	0.59768	1.838000	0.53458	0.477000	0.44152	AAT		0.294	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KYNU	8942	broad.mit.edu	37	2	143712407	143712407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:143712407G>T	ENST00000264170.4	+	5	660	c.402G>T	c.(400-402)atG>atT	p.M134I	KYNU_ENST00000409512.1_Missense_Mutation_p.M134I|KYNU_ENST00000375773.2_Missense_Mutation_p.M134I	NM_003937.2	NP_003928.1			kynureninase									p.M134I(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TAGCCCTAATGAATGCTTTGA	0.294																																					p.M134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	2						.						104.0	112.0	109.0					2																	143712407		2203	4298	6501	143428877	SO:0001583	missense	8942	exon5			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.402G>T	2.37:g.143712407G>T	ENSP00000264170:p.Met134Ile		143428877	NM_001032998		Missense_Mutation	SNP	ENST00000264170.4	37	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547345	0.86022	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.85702	-2.02;-2.02;-2.02	5.72	4.84	0.62591	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.93898	3.47	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.989;0.987	D	0.95542	0.8613	10	0.87932	D	0	.	15.2033	0.73157	0.0678:0.0:0.9322:0.0	.	134;134	Q16719;Q9BVW3	KYNU_HUMAN;.	I	134	ENSP00000264170:M134I;ENSP00000364928:M134I;ENSP00000386731:M134I	ENSP00000264170:M134I	M	+	3	0	KYNU	143428877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.995000	0.93534	1.554000	0.49487	0.650000	0.86243	ATG		0.294	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
ZEB2	9839	broad.mit.edu	37	2	145155875	145155875	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:145155875C>T	ENST00000558170.2	-	8	4063	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	ZEB2_ENST00000539609.3_Missense_Mutation_p.G936E|ZEB2_ENST00000303660.4_Missense_Mutation_p.G960E|ZEB2_ENST00000409487.3_Missense_Mutation_p.G960E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	960					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.G960E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACCTGAAATCCTTGTTTCCG	0.388																																					p.G936E	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2807A	2						.						82.0	80.0	81.0					2																	145155875		2203	4300	6503	144872345	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2879G>A	2.37:g.145155875C>T	ENSP00000454157:p.Gly960Glu		144872345	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023747	0.54683	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14640	2.5;2.49;2.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.997	D;D;D;D	0.97110	1.0;0.96;0.942;0.942	T	0.03268	-1.1054	10	0.72032	D	0.01	-1.9384	20.1374	0.98035	0.0:1.0:0.0:0.0	.	936;825;959;960	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	936;960;960	ENSP00000443792:G936E;ENSP00000302501:G960E;ENSP00000386854:G960E	ENSP00000302501:G960E	G	-	2	0	ZEB2	144872345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.763000	0.94921	0.563000	0.77884	GGA		0.388	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
TPO	7173	broad.mit.edu	37	2	1499800	1499800	+	Missense_Mutation	SNP	G	G	T	rs200234204		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1499800G>T	ENST00000345913.4	+	12	2137	c.2046G>T	c.(2044-2046)caG>caT	p.Q682H	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Q509H|TPO_ENST00000382201.3_Missense_Mutation_p.Q625H|TPO_ENST00000337415.3_Missense_Mutation_p.Q682H|TPO_ENST00000329066.4_Missense_Mutation_p.Q682H|TPO_ENST00000346956.3_Missense_Mutation_p.Q682H|TPO_ENST00000382198.1_Missense_Mutation_p.Q509H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	682					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.Q682H(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGATGCACAGAGGCGTGAGC	0.582																																					p.Q682H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2046T	2						.						76.0	62.0	67.0					2																	1499800		2203	4300	6503	1478807	SO:0001583	missense	7173	exon11				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2046G>T	2.37:g.1499800G>T	ENSP00000318820:p.Gln682His		1478807	NM_175721	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.656104|1.656104	0.29425|0.29425	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	4.52|4.52	2.61|2.61	0.31194|0.31194	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82504|0.82504	0.5051|0.5051	H|H	0.97611|0.97611	4.04|4.04	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;1.0;1.0|.	T|T	0.83021|0.83021	-0.0167|-0.0167	10|5	0.87932|.	D|.	0|.	-37.6232|-37.6232	6.8225|6.8225	0.23864|0.23864	0.3517:0.0:0.6483:0.0|0.3517:0.0:0.6483:0.0	.|.	682;509;625;682|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	H|I	682;682;682;509;682;625;509;611;156|157	ENSP00000337263:Q682H;ENSP00000318820:Q682H;ENSP00000263886:Q682H;ENSP00000332044:Q509H;ENSP00000329869:Q682H;ENSP00000371636:Q625H;ENSP00000371633:Q509H;ENSP00000405788:Q611H;ENSP00000419461:Q156H|.	ENSP00000329869:Q682H|.	Q|R	+|+	3|2	2|0	TPO|TPO	1478807|1478807	1.000000|1.000000	0.71417|0.71417	0.178000|0.178000	0.23040|0.23040	0.048000|0.048000	0.14542|0.14542	1.917000|1.917000	0.39996|0.39996	0.991000|0.991000	0.38814|0.38814	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.582	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
ZEB2	9839	broad.mit.edu	37	2	145157797	145157797	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:145157797G>T	ENST00000558170.2	-	8	2141	c.957C>A	c.(955-957)ttC>ttA	p.F319L	ZEB2_ENST00000539609.3_Missense_Mutation_p.F295L|ZEB2_ENST00000303660.4_Missense_Mutation_p.F319L|ZEB2_ENST00000409487.3_Missense_Mutation_p.F319L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	319					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.F319L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAGAATGGGAGAAACGTTTCT	0.368																																					p.F295L	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C885A	2	GRCh37	CI072628	ZEB2	I		.						48.0	51.0	50.0					2																	145157797		2203	4300	6503	144874267	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.957C>A	2.37:g.145157797G>T	ENSP00000454157:p.Phe319Leu		144874267	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345550	0.61073	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69708	0.3141	M	0.82433	2.59	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.979;0.985	D;D;D;D	0.85130	0.997;0.996;0.982;0.977	T	0.73994	-0.3807	10	0.87932	D	0	-8.4777	19.4311	0.94768	0.0:0.0:1.0:0.0	.	295;184;318;319	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	L	314;295;319;319;319;319	ENSP00000443792:F295L;ENSP00000302501:F319L;ENSP00000386854:F319L;ENSP00000395496:F319L;ENSP00000376601:F319L	ENSP00000302501:F319L	F	-	3	2	ZEB2	144874267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.488000	0.66869	2.590000	0.87494	0.563000	0.77884	TTC		0.368	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ACVR2A	92	broad.mit.edu	37	2	148672871	148672871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:148672871G>T	ENST00000241416.7	+	5	1276	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.E106*|ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.E214*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.E214*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGCTTAACGAATATGTGGC	0.383																																					p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	2						.						131.0	134.0	133.0					2																	148672871		2203	4299	6502	148389341	SO:0001587	stop_gained	92	exon5				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.640G>T	2.37:g.148672871G>T	ENSP00000241416:p.Glu214*		148389341	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	43	10.119343	0.99340	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.92	5.92	0.95590	.	0.087632	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	.	.	.	X	214;106;214	.	ENSP00000241416:E214X	E	+	1	0	ACVR2A	148389341	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GAA		0.383	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
ACVR2A	92	broad.mit.edu	37	2	148684829	148684829	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:148684829G>T	ENST00000241416.7	+	11	2164	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.E402*|ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.E510*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	510					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.E510*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TCCTCCCAAAGAATCTAGTCT	0.398																																					p.E510X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1528T	2						.						79.0	71.0	74.0					2																	148684829		2203	4300	6503	148401299	SO:0001587	stop_gained	92	exon11				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1528G>T	2.37:g.148684829G>T	ENSP00000241416:p.Glu510*		148401299	NM_001616	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Nonsense_Mutation	SNP	ENST00000241416.7	37	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	G	42	9.683793	0.99238	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.88	5.88	0.94601	.	0.098491	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	.	.	.	X	510;402;510	.	ENSP00000241416:E510X	E	+	1	0	ACVR2A	148401299	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	GAA		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616	
MBD5	55777	broad.mit.edu	37	2	149247393	149247393	+	Missense_Mutation	SNP	C	C	T	rs558876535		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149247393C>T	ENST00000407073.1	+	12	4490	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	MBD5_ENST00000404807.1_Missense_Mutation_p.R1398W	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1165					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R1165W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAGAGGGGCTCGGCTGCCCAA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20438	0.0		0.0	False		,,,				2504	0.001				p.R1165W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3493T	2						.						67.0	73.0	71.0					2																	149247393		2203	4300	6503	148963863	SO:0001583	missense	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3493C>T	2.37:g.149247393C>T	ENSP00000386049:p.Arg1165Trp		148963863	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348928	0.61183	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.55413	0.54;0.52	6.08	6.08	0.98989	.	0.000000	0.56097	D	0.000025	T	0.62877	0.2464	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65952	-0.6043	10	0.87932	D	0	-6.446	20.6634	0.99662	0.0:1.0:0.0:0.0	.	1398;1165	E9PHH0;Q9P267	.;MBD5_HUMAN	W	1165;1398	ENSP00000386049:R1165W;ENSP00000384672:R1398W	ENSP00000384672:R1398W	R	+	1	2	MBD5	148963863	0.731000	0.28111	0.999000	0.59377	0.987000	0.75469	1.310000	0.33551	2.894000	0.99253	0.655000	0.94253	CGG		0.473	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
KIF5C	3800	broad.mit.edu	37	2	149679726	149679726	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149679726C>T	ENST00000435030.1	+	2	515	c.147C>T	c.(145-147)ttC>ttT	p.F49F				O60282	KIF5C_HUMAN	kinesin family member 5C	49	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.F49F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CATATGTCTTCGACAGAGTGC	0.393																																					p.F49F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	2						.						85.0	82.0	83.0					2																	149679726		1869	4122	5991	149396196	SO:0001819	synonymous_variant	3800	exon2			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.147C>T	2.37:g.149679726C>T			149396196	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.393	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149803434	149803434	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149803434G>T	ENST00000435030.1	+	8	979	c.611G>T	c.(610-612)aGa>aTa	p.R204I	KIF5C_ENST00000397413.1_5'Flank|KIF5C_ENST00000414838.2_Missense_Mutation_p.R109I			O60282	KIF5C_HUMAN	kinesin family member 5C	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R204I(1)|p.R107I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACAGCTCTAGAAGTCACAGT	0.348																																					p.R180I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G539T	2						.						93.0	85.0	87.0					2																	149803434		1831	4097	5928	149511680	SO:0001583	missense	3800	exon7			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.611G>T	2.37:g.149803434G>T	ENSP00000393379:p.Arg204Ile		149511680	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.355823	0.95854	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	D;D	0.87571	-2.27;-2.27	5.64	5.64	0.86602	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93958	0.7238	9	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	204	O60282	KIF5C_HUMAN	I	204;109;107	ENSP00000393379:R204I;ENSP00000410115:R109I	ENSP00000334176:R107I	R	+	2	0	KIF5C	149511680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	AGA		0.348	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149806389	149806389	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149806389G>A	ENST00000435030.1	+	9	1119	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	KIF5C_ENST00000397413.1_Missense_Mutation_p.E19K|KIF5C_ENST00000414838.2_Missense_Mutation_p.E156K|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	251	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E154K(1)|p.E251K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTTCTTGACGAAGCTAAAAA	0.443																																					p.E227K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G679A	2						.						106.0	103.0	104.0					2																	149806389		1923	4141	6064	149514635	SO:0001583	missense	3800	exon8			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.751G>A	2.37:g.149806389G>A	ENSP00000393379:p.Glu251Lys		149514635	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.495491	0.96355	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.85088	-1.94;-1.94;-1.94	5.65	5.65	0.86999	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.93048	0.7787	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93046	0.6461	9	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	251	O60282	KIF5C_HUMAN	K	251;156;154;19	ENSP00000393379:E251K;ENSP00000410115:E156K;ENSP00000380560:E19K	ENSP00000334176:E154K	E	+	1	0	KIF5C	149514635	1.000000	0.71417	0.982000	0.44146	0.756000	0.42949	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GAA		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149818509	149818509	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149818509C>A	ENST00000435030.1	+	11	1361	c.993C>A	c.(991-993)gtC>gtA	p.V331V	KIF5C_ENST00000414838.2_Silent_p.V236V|KIF5C_ENST00000397413.1_Silent_p.V99V|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	331					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.V234V(2)|p.V331V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAATACAGTCTCTGTGAACC	0.353																																					p.V307V												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C921A	2						.						112.0	103.0	106.0					2																	149818509		1826	4091	5917	149526755	SO:0001819	synonymous_variant	3800	exon10			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.993C>A	2.37:g.149818509C>A			149526755	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.353	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149837920	149837920	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149837920C>T	ENST00000435030.1	+	14	1782	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	KIF5C_ENST00000414838.2_Missense_Mutation_p.R377C|KIF5C_ENST00000397413.1_Missense_Mutation_p.R240C|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	472					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R375C(1)|p.R472C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGCTGACACGTCTCCAGAT	0.453																																					p.R448C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1342T	2						.						51.0	51.0	51.0					2																	149837920		2061	4249	6310	149546166	SO:0001583	missense	3800	exon13			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1414C>T	2.37:g.149837920C>T	ENSP00000393379:p.Arg472Cys		149546166	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.012170	0.93346	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.82167	-1.58;-1.58;-1.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91723	0.7383	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.915;0.988	D	0.92205	0.5771	9	0.87932	D	0	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	472;38	O60282;Q3LIE3	KIF5C_HUMAN;.	C	472;377;375;240	ENSP00000393379:R472C;ENSP00000410115:R377C;ENSP00000380560:R240C	ENSP00000334176:R375C	R	+	1	0	KIF5C	149546166	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.619000	0.83057	2.805000	0.96524	0.655000	0.94253	CGT		0.453	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149840214	149840214	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149840214C>A	ENST00000435030.1	+	15	2018	c.1650C>A	c.(1648-1650)atC>atA	p.I550I	KIF5C_ENST00000414838.2_Silent_p.I455I|KIF5C_ENST00000397413.1_Silent_p.I318I|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	550					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.I453I(1)|p.I550I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACTGAGATCCTGAATTTGC	0.438																																					p.I526I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1578A	2						.						85.0	85.0	85.0					2																	149840214		1894	4130	6024	149548460	SO:0001819	synonymous_variant	3800	exon14			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1650C>A	2.37:g.149840214C>A			149548460	NM_004522	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																					0.438	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
KIF5C	3800	broad.mit.edu	37	2	149864533	149864533	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:149864533T>G	ENST00000435030.1	+	23	2870	c.2502T>G	c.(2500-2502)atT>atG	p.I834M	KIF5C_ENST00000414838.2_Missense_Mutation_p.I739M|KIF5C_ENST00000397413.1_Missense_Mutation_p.I602M|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	834					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.I834M(1)|p.I737M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCAGAAAATTTCCTTCTTGG	0.547																																					p.I810M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2430G	2						.						72.0	78.0	76.0					2																	149864533		1946	4143	6089	149572779	SO:0001583	missense	3800	exon22			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2502T>G	2.37:g.149864533T>G	ENSP00000393379:p.Ile834Met		149572779	NM_004522	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	T	16.78	3.217427	0.58560	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.92446	-3.04;-3.04;-3.04	5.58	0.252	0.15545	.	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	.	.	.	0.40461	D	0.980241	D;D	0.89917	0.995;1.0	D;D	0.78314	0.916;0.991	D	0.92928	0.6361	8	.	.	.	.	10.7888	0.46422	0.0:0.4784:0.0:0.5216	.	834;142	O60282;Q59GB8	KIF5C_HUMAN;.	M	834;739;737;602	ENSP00000393379:I834M;ENSP00000410115:I739M;ENSP00000380560:I602M	.	I	+	3	3	KIF5C	149572779	0.986000	0.35501	0.997000	0.53966	0.984000	0.73092	0.192000	0.17096	-0.173000	0.10761	0.460000	0.39030	ATT		0.547	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
LYPD6	130574	broad.mit.edu	37	2	150294316	150294316	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:150294316G>T	ENST00000334166.4	+	2	351	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	LYPD6_ENST00000409381.1_Missense_Mutation_p.D32Y	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	32						extracellular region (GO:0005576)		p.D32Y(1)		large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CACAGTGAAAGACATTATCTA	0.483																																					p.D32Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	2						.						101.0	93.0	96.0					2																	150294316		2203	4300	6503	150002562	SO:0001583	missense	130574	exon2			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.94G>T	2.37:g.150294316G>T	ENSP00000334463:p.Asp32Tyr		150002562	NM_001195685	B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	ENST00000334166.4	37	CCDS2188.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261635	0.80358	.	.	ENSG00000187123	ENST00000409381;ENST00000334166;ENST00000414420	T;T;T	0.27890	1.64;1.64;1.64	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.53711	-0.8400	10	0.59425	D	0.04	-8.5246	17.1582	0.86797	0.0:0.0:1.0:0.0	.	32	Q86Y78	LYPD6_HUMAN	Y	32	ENSP00000386413:D32Y;ENSP00000334463:D32Y;ENSP00000392286:D32Y	ENSP00000334463:D32Y	D	+	1	0	LYPD6	150002562	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.863000	0.87023	2.650000	0.89964	0.585000	0.79938	GAC		0.483	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254800.2	NM_194317	
RND3	390	broad.mit.edu	37	2	151331453	151331453	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:151331453G>A	ENST00000375734.2	-	3	533	c.284C>T	c.(283-285)tCg>tTg	p.S95L	RND3_ENST00000263895.4_Missense_Mutation_p.S95L|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	95					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S95L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		CACAGCATCCGAATCAGGGTA	0.463																																					p.S95L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C284T	2						.						96.0	94.0	95.0					2																	151331453		2203	4300	6503	151039699	SO:0001583	missense	390	exon4				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.284C>T	2.37:g.151331453G>A	ENSP00000364886:p.Ser95Leu		151039699	NM_005168	D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	G	36	5.655655	0.96724	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.053071	0.85682	D	0.000000	D	0.84005	0.5377	M	0.90705	3.14	0.80722	D	1	D;D;D	0.69078	0.994;0.997;0.997	P;P;P	0.59115	0.852;0.814;0.814	D	0.86453	0.1774	10	0.87932	D	0	-3.7159	19.5289	0.95219	0.0:0.0:1.0:0.0	.	95;95;95	B2R838;D3DP96;P61587	.;.;RND3_HUMAN	L	95	ENSP00000364886:S95L;ENSP00000263895:S95L;ENSP00000395997:S95L;ENSP00000411950:S95L	ENSP00000263895:S95L	S	-	2	0	RND3	151039699	1.000000	0.71417	0.836000	0.33094	0.889000	0.51656	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	TCG		0.463	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168	
NMI	9111	broad.mit.edu	37	2	152127279	152127279	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152127279C>A	ENST00000243346.5	-	8	1322	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	284					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)	p.K284N(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CACCTCCATTCTTTGCCCGTT	0.388																																					p.K284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	2						.						184.0	172.0	176.0					2																	152127279		2203	4300	6503	151835525	SO:0001583	missense	9111	exon8			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.852G>T	2.37:g.152127279C>A	ENSP00000243346:p.Lys284Asn		151835525	NM_004688	B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314992	0.23908	.	.	ENSG00000123609	ENST00000243346	T	0.51071	0.72	5.26	0.526	0.17078	Nmi/IFP 35 (1);	0.373716	0.30126	N	0.010349	T	0.27241	0.0668	L	0.33710	1.025	0.18873	N	0.999983	B	0.13145	0.007	B	0.14023	0.01	T	0.08868	-1.0701	10	0.20046	T	0.44	-11.8808	2.9092	0.05731	0.1951:0.4343:0.0:0.3706	.	284	Q13287	NMI_HUMAN	N	284	ENSP00000243346:K284N	ENSP00000243346:K284N	K	-	3	2	NMI	151835525	0.173000	0.23056	0.953000	0.39169	0.908000	0.53690	-0.073000	0.11468	0.175000	0.19841	0.591000	0.81541	AAG		0.388	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688	
RIF1	55183	broad.mit.edu	37	2	152319839	152319839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152319839G>T	ENST00000243326.5	+	29	4288	c.3805G>T	c.(3805-3807)Gaa>Taa	p.E1269*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.E1269*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E1269*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E1269*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.E1269*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E1269*(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAGCAAAGAGAAGGGACTTT	0.358																																					p.E1269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3805T	2						.						75.0	85.0	82.0					2																	152319839		2203	4297	6500	152028085	SO:0001587	stop_gained	55183	exon30			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3805G>T	2.37:g.152319839G>T	ENSP00000243326:p.Glu1269*		152028085	NM_001177664	A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	40	8.161676	0.98683	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	5.33	3.45	0.39498	.	0.743939	0.13411	N	0.389849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.1687	5.1314	0.14913	0.0788:0.1462:0.6235:0.1515	.	.	.	.	X	1269	.	ENSP00000243326:E1269X	E	+	1	0	RIF1	152028085	1.000000	0.71417	0.955000	0.39395	0.639000	0.38242	2.689000	0.46993	0.563000	0.29222	0.563000	0.77884	GAA		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
RIF1	55183	broad.mit.edu	37	2	152320140	152320140	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152320140A>C	ENST00000243326.5	+	29	4589	c.4106A>C	c.(4105-4107)gAa>gCa	p.E1369A	RIF1_ENST00000430328.2_Missense_Mutation_p.E1369A|RIF1_ENST00000453091.2_Missense_Mutation_p.E1369A|RIF1_ENST00000428287.2_Missense_Mutation_p.E1369A|RIF1_ENST00000444746.2_Missense_Mutation_p.E1369A			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.E1369A(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTATTATTGGAAACTAATACT	0.348																																					p.E1369A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4106C	2						.						63.0	69.0	67.0					2																	152320140		2200	4300	6500	152028386	SO:0001583	missense	55183	exon30			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4106A>C	2.37:g.152320140A>C	ENSP00000243326:p.Glu1369Ala		152028386	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.209124	0.39003	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.14	5.14	0.70334	.	0.298852	0.35805	N	0.002977	T	0.28267	0.0698	L	0.50333	1.59	0.80722	D	1	B;B	0.33637	0.349;0.42	B;B	0.28465	0.056;0.09	T	0.07195	-1.0785	10	0.48119	T	0.1	-7.2597	13.9392	0.64043	1.0:0.0:0.0:0.0	.	1369;1369	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	1369	ENSP00000390181:E1369A;ENSP00000414615:E1369A;ENSP00000415691:E1369A;ENSP00000243326:E1369A;ENSP00000416123:E1369A	ENSP00000243326:E1369A	E	+	2	0	RIF1	152028386	0.770000	0.28543	0.476000	0.27291	0.044000	0.14063	1.025000	0.30090	1.953000	0.56701	0.455000	0.32223	GAA		0.348	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	broad.mit.edu	37	2	152349881	152349881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152349881C>A	ENST00000172853.10	-	143	19330	c.19183G>T	c.(19183-19185)Gaa>Taa	p.E6395*	NEB_ENST00000397336.2_Nonsense_Mutation_p.E226*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E8251*|NEB_ENST00000509223.2_Nonsense_Mutation_p.E164*|NEB_ENST00000427231.2_Nonsense_Mutation_p.E8251*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E8251*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E8251*|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Nonsense_Mutation_p.E6395*|NEB_ENST00000498015.2_Intron			P20929	NEBU_HUMAN	nebulin	6395					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E6395*(1)|p.E6395K(1)|p.E8251K(1)|p.E8251*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAATGTTTTCTTGGTTGCGC	0.383																																					p.E8251X												.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	urinary_tract(2)|large_intestine(2)	c.G24751T	2						.						121.0	109.0	113.0					2																	152349881		1848	4101	5949	152058127	SO:0001587	stop_gained	4703	exon176			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19183G>T	2.37:g.152349881C>A	ENSP00000172853:p.Glu6395*		152058127	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.9|23.9|23.9	4.468360|4.468360|4.468360	0.84533|0.84533|0.84533	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000397337|ENST00000421461	.|.|.	.|.|.	.|.|.	5.98|5.98|5.98	5.09|5.09|5.09	0.68999|0.68999|0.68999	.|.|.	0.454150|.|.	0.23658|.|.	N|.|.	0.045858|.|.	.|T|T	.|0.73009|0.73009	.|0.3532|0.3532	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.74359|0.74359	.|-0.3691|-0.3691	.|3|3	0.45353|.|.	T|.|.	0.12|.|.	.|.|.	16.8063|16.8063|16.8063	0.85706|0.85706|0.85706	0.0:0.8709:0.1291:0.0|0.0:0.8709:0.1291:0.0|0.0:0.8709:0.1291:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	6395;8251;8251;6395;226;164|384|396	.|.|.	ENSP00000172853:E6395X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	NEB|NEB|NEB	152058127|152058127|152058127	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	3.332000|3.332000|3.332000	0.52083|0.52083|0.52083	1.513000|1.513000|1.513000	0.48852|0.48852|0.48852	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152350697	152350697	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152350697C>T	ENST00000172853.10	-	141	19136	c.18989G>A	c.(18988-18990)cGc>cAc	p.R6330H	NEB_ENST00000397336.2_Missense_Mutation_p.R161H|NEB_ENST00000604864.1_Missense_Mutation_p.R8186H|NEB_ENST00000509223.2_Missense_Mutation_p.R130H|NEB_ENST00000427231.2_Missense_Mutation_p.R8186H|NEB_ENST00000397345.3_Missense_Mutation_p.R8186H|NEB_ENST00000603639.1_Missense_Mutation_p.R8186H|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.R6330H|NEB_ENST00000498015.2_Intron			P20929	NEBU_HUMAN	nebulin	6330					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R6330H(1)|p.R8186H(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTGATTGCGTTTGACTCT	0.438																																					p.R8186H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G24557A	2						.						114.0	95.0	101.0					2																	152350697		1880	4112	5992	152058943	SO:0001583	missense	4703	exon174			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18989G>A	2.37:g.152350697C>T	ENSP00000172853:p.Arg6330His		152058943	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.491768|2.491768	0.44249|0.44249	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.82|5.82	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71581|0.71581	2.175|2.175	0.21064|0.21064	N|N	0.999796|0.999796	.|P;B;B;B;B;D	.|0.89917	.|0.894;0.104;0.009;0.1;0.004;1.0	.|B;B;B;B;B;D	.|0.91635	.|0.36;0.059;0.005;0.024;0.002;0.999	T|T	0.59679|0.59679	-0.7409|-0.7409	5|10	.|0.19590	.|T	.|0.45	.|.	14.4962|14.4962	0.67688|0.67688	0.0:0.929:0.0:0.071|0.0:0.929:0.0:0.071	.|.	.|130;161;130;6330;2730;8186	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	T|H	320;489|6330;8186;8186;2348;2730;6330;161;130	.|ENSP00000386259:R6330H;ENSP00000380505:R8186H;ENSP00000416578:R8186H;ENSP00000410961:R2730H;ENSP00000172853:R6330H;ENSP00000380497:R161H;ENSP00000427083:R130H	.|ENSP00000172853:R6330H	A|R	-|-	1|2	0|0	NEB|NEB	152058943|152058943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.693000|1.693000	0.37742|0.37742	1.456000|1.456000	0.47831|0.47831	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.438	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152375525	152375525	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152375525G>T	ENST00000172853.10	-	127	17693	c.17546C>A	c.(17545-17547)tCt>tAt	p.S5849Y	NEB_ENST00000604864.1_Missense_Mutation_p.S7550Y|NEB_ENST00000427231.2_Missense_Mutation_p.S7550Y|NEB_ENST00000397345.3_Missense_Mutation_p.S7550Y|NEB_ENST00000603639.1_Missense_Mutation_p.S7550Y|NEB_ENST00000409198.1_Missense_Mutation_p.S5849Y			P20929	NEBU_HUMAN	nebulin	5849					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S5849Y(1)|p.S7550Y(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGATCAGAGACTCCTTCAT	0.413																																					p.S7550Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C22649A	2						.						152.0	142.0	145.0					2																	152375525		1903	4111	6014	152083771	SO:0001583	missense	4703	exon155			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17546C>A	2.37:g.152375525G>T	ENSP00000172853:p.Ser5849Tyr		152083771	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.168388|5.168388	0.94768|0.94768	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.50277	.|3.26;3.26;3.26;0.75;3.26	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.998	.|D;D;D	.|0.91635	.|0.998;0.999;0.972	T|T	0.71586|0.71586	-0.4548|-0.4548	5|10	.|0.66056	.|D	.|0.02	.|.	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5849;7550;2280	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	I|Y	173|5849;7550;7550;1898;2280;5849	.|ENSP00000386259:S5849Y;ENSP00000380505:S7550Y;ENSP00000416578:S7550Y;ENSP00000410961:S2280Y;ENSP00000172853:S5849Y	.|ENSP00000172853:S5849Y	L|S	-|-	1|2	0|0	NEB|NEB	152083771|152083771	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152376261	152376261	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152376261C>T	ENST00000172853.10	-	126	17545	c.17398G>A	c.(17398-17400)Gat>Aat	p.D5800N	NEB_ENST00000604864.1_Missense_Mutation_p.D7501N|NEB_ENST00000427231.2_Missense_Mutation_p.D7501N|NEB_ENST00000397345.3_Missense_Mutation_p.D7501N|NEB_ENST00000603639.1_Missense_Mutation_p.D7501N|NEB_ENST00000409198.1_Missense_Mutation_p.D5800N			P20929	NEBU_HUMAN	nebulin	5800					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D5800N(1)|p.D7501N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCTTTATCGAAATTTTCT	0.353																																					p.D7501N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G22501A	2						.						261.0	227.0	237.0					2																	152376261		1829	4079	5908	152084507	SO:0001583	missense	4703	exon154			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17398G>A	2.37:g.152376261C>T	ENSP00000172853:p.Asp5800Asn		152084507	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	14.09	2.430596	0.43122	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	6.16	3.01	0.34805	.	0.399718	0.31323	N	0.007858	T	0.35711	0.0941	L	0.59436	1.845	0.80722	D	1	B;B;B	0.17852	0.014;0.008;0.024	B;B;B	0.19946	0.027;0.012;0.016	T	0.09443	-1.0674	10	0.28530	T	0.3	.	7.8698	0.29558	0.2215:0.6721:0.0:0.1064	.	5800;7501;2231	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	N	5800;7501;7501;1849;2231;5800	ENSP00000386259:D5800N;ENSP00000380505:D7501N;ENSP00000416578:D7501N;ENSP00000410961:D2231N;ENSP00000172853:D5800N	ENSP00000172853:D5800N	D	-	1	0	NEB	152084507	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	1.324000	0.33712	0.303000	0.22785	0.650000	0.86243	GAT		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152380919	152380919	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152380919C>A	ENST00000172853.10	-	125	17429	c.17282G>T	c.(17281-17283)aGa>aTa	p.R5761I	NEB_ENST00000604864.1_Missense_Mutation_p.R7462I|NEB_ENST00000427231.2_Missense_Mutation_p.R7462I|NEB_ENST00000397345.3_Missense_Mutation_p.R7462I|NEB_ENST00000603639.1_Missense_Mutation_p.R7462I|NEB_ENST00000409198.1_Missense_Mutation_p.R5761I			P20929	NEBU_HUMAN	nebulin	5761					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R5761I(1)|p.R7462I(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGCTTGGCTCTGTACTCCAC	0.537																																					p.R7462I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G22385T	2						.						129.0	124.0	126.0					2																	152380919		2074	4220	6294	152089165	SO:0001583	missense	4703	exon153			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17282G>T	2.37:g.152380919C>A	ENSP00000172853:p.Arg5761Ile		152089165	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.89|17.89	3.500696|3.500696	0.64298|0.64298	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.55930	.|0.49;0.65;0.65;0.49;0.49	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.044560	.|0.85682	.|D	.|0.000000	.|T	.|0.57755	.|0.2075	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.99;0.997;0.994	.|D;D;P	.|0.69479	.|0.953;0.964;0.908	.|T	.|0.60747	.|-0.7202	.|10	.|0.87932	.|D	.|0	.|.	7.8249|7.8249	0.29309|0.29309	0.0:0.8119:0.0:0.1881|0.0:0.8119:0.0:0.1881	.|.	.|5761;7462;2192	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	X|I	85|5761;7462;7462;1810;2192;5761	.|ENSP00000386259:R5761I;ENSP00000380505:R7462I;ENSP00000416578:R7462I;ENSP00000410961:R2192I;ENSP00000172853:R5761I	.|ENSP00000172853:R5761I	E|R	-|-	1|2	0|0	NEB|NEB	152089165|152089165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.279000|0.279000	0.26890|0.26890	4.870000|4.870000	0.63035|0.63035	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.537	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152381773	152381773	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152381773C>A	ENST00000172853.10	-	123	17220	c.17073G>T	c.(17071-17073)aaG>aaT	p.K5691N	NEB_ENST00000604864.1_Missense_Mutation_p.K7392N|NEB_ENST00000427231.2_Missense_Mutation_p.K7392N|NEB_ENST00000397345.3_Missense_Mutation_p.K7392N|NEB_ENST00000603639.1_Missense_Mutation_p.K7392N|NEB_ENST00000409198.1_Missense_Mutation_p.K5691N			P20929	NEBU_HUMAN	nebulin	5691					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K7392N(1)|p.K5691N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACAAACTTCTTTTTGTAAT	0.398																																					p.K7392N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G22176T	2						.						111.0	101.0	104.0					2																	152381773		1842	4090	5932	152090019	SO:0001583	missense	4703	exon151			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17073G>T	2.37:g.152381773C>A	ENSP00000172853:p.Lys5691Asn		152090019	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.942733|3.942733	0.73672|0.73672	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.217653|.	0.48286|.	D|.	0.000186|.	T|T	0.51568|0.51568	0.1682|0.1682	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.974;0.967;0.995|.	P;P;P|.	0.60415|.	0.777;0.839;0.874|.	T|T	0.48055|0.48055	-0.9068|-0.9068	10|5	0.54805|.	T|.	0.06|.	.|.	11.379|11.379	0.49746|0.49746	0.0:0.8625:0.0:0.1375|0.0:0.8625:0.0:0.1375	.|.	5691;7392;2122|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|I	5691;7392;7392;1740;2122;5691|15	ENSP00000386259:K5691N;ENSP00000380505:K7392N;ENSP00000416578:K7392N;ENSP00000410961:K2122N;ENSP00000172853:K5691N|.	ENSP00000172853:K5691N|.	K|R	-|-	3|2	2|0	NEB|NEB	152090019|152090019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.229000|3.229000	0.51278|0.51278	1.571000|1.571000	0.49722|0.49722	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.398	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152390743	152390743	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152390743C>T	ENST00000172853.10	-	115	16447	c.16300G>A	c.(16300-16302)Gac>Aac	p.D5434N	NEB_ENST00000604864.1_Missense_Mutation_p.D7135N|NEB_ENST00000427231.2_Missense_Mutation_p.D7135N|NEB_ENST00000397345.3_Intron|NEB_ENST00000603639.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.D5434N			P20929	NEBU_HUMAN	nebulin	5434					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.D5434N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCTGGTCGCCTGCGGTC	0.527																																					p.D7135N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G21403A	2						.						173.0	177.0	176.0					2																	152390743		1995	4179	6174	152098989	SO:0001583	missense	4703	exon143			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16300G>A	2.37:g.152390743C>T	ENSP00000172853:p.Asp5434Asn		152098989	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	13.03	2.116240	0.37339	.	.	ENSG00000183091	ENST00000409198;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	6.03	4.24	0.50183	.	0.332419	0.34700	N	0.003748	T	0.19565	0.0470	N	0.02865	-0.47	0.80722	D	1	B;P	0.49185	0.316;0.92	B;B	0.38264	0.146;0.269	T	0.04115	-1.0976	10	0.14656	T	0.56	.	10.7381	0.46137	0.0:0.782:0.0:0.218	.	5434;1865	P20929;Q14215	NEBU_HUMAN;.	N	5434;7135;1483;1865;5434	ENSP00000386259:D5434N;ENSP00000416578:D7135N;ENSP00000410961:D1865N;ENSP00000172853:D5434N	ENSP00000172853:D5434N	D	-	1	0	NEB	152098989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.271000	0.51608	0.884000	0.36064	0.655000	0.94253	GAC		0.527	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152419150	152419150	+	Missense_Mutation	SNP	C	C	T	rs575958060		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152419150C>T	ENST00000172853.10	-	92	13910	c.13763G>A	c.(13762-13764)cGa>cAa	p.R4588Q	NEB_ENST00000604864.1_Missense_Mutation_p.R6289Q|NEB_ENST00000427231.2_Missense_Mutation_p.R6289Q|NEB_ENST00000397345.3_Missense_Mutation_p.R6289Q|NEB_ENST00000603639.1_Missense_Mutation_p.R6289Q|NEB_ENST00000409198.1_Missense_Mutation_p.R4588Q			P20929	NEBU_HUMAN	nebulin	4588					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R4588Q(2)|p.R6289Q(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGGCGTTTCGGACGCGTAT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16629	0.0		0.0	False		,,,				2504	0.001				p.R6289Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G18866A	2						.						82.0	79.0	80.0					2																	152419150		2035	4168	6203	152127396	SO:0001583	missense	4703	exon120			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13763G>A	2.37:g.152419150C>T	ENSP00000172853:p.Arg4588Gln		152127396	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	18.59	3.657176	0.67586	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.74	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.91635	0.999;0.874	T	0.71237	-0.4652	10	0.66056	D	0.02	.	13.0088	0.58720	0.0:0.8684:0.0:0.1316	.	4588;1019	P20929;Q14215	NEBU_HUMAN;.	Q	4588;6289;6289;637;1019;4588	ENSP00000386259:R4588Q;ENSP00000380505:R6289Q;ENSP00000416578:R6289Q;ENSP00000410961:R1019Q;ENSP00000172853:R4588Q	ENSP00000172853:R4588Q	R	-	2	0	NEB	152127396	0.996000	0.38824	0.052000	0.19188	0.263000	0.26337	2.099000	0.41767	0.900000	0.36469	0.563000	0.77884	CGA		0.517	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152423966	152423966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152423966G>A	ENST00000172853.10	-	86	12916	c.12769C>T	c.(12769-12771)Caa>Taa	p.Q4257*	NEB_ENST00000604864.1_Nonsense_Mutation_p.Q5958*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q5958*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q5958*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q5958*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q4257*			P20929	NEBU_HUMAN	nebulin	4257					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q5958*(1)|p.Q4257*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGACCTTTTTGCTTCACATGT	0.433																																					p.Q5958X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C17872T	2						.						88.0	77.0	81.0					2																	152423966		1940	4151	6091	152132212	SO:0001587	stop_gained	4703	exon114			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12769C>T	2.37:g.152423966G>A	ENSP00000172853:p.Gln4257*		152132212	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	55	23.750573	0.99957	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	.	.	.	X	4257;5958;5958;306;688;4257	.	ENSP00000172853:Q4257X	Q	-	1	0	NEB	152132212	1.000000	0.71417	0.978000	0.43139	0.947000	0.59692	7.876000	0.87215	2.791000	0.96007	0.650000	0.86243	CAA		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152472613	152472613	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152472613T>G	ENST00000172853.10	-	72	10610	c.10463A>C	c.(10462-10464)aAa>aCa	p.K3488T	NEB_ENST00000604864.1_Missense_Mutation_p.K3731T|NEB_ENST00000427231.2_Missense_Mutation_p.K3731T|NEB_ENST00000397345.3_Missense_Mutation_p.K3731T|NEB_ENST00000603639.1_Missense_Mutation_p.K3731T|NEB_ENST00000409198.1_Missense_Mutation_p.K3488T			P20929	NEBU_HUMAN	nebulin	3488					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.K3488T(1)|p.K3731T(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAAAGCAAGTTTATAGAGTTT	0.373																																					p.K3731T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A11192C	2						.						51.0	52.0	51.0					2																	152472613		1835	4076	5911	152180859	SO:0001583	missense	4703	exon76			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10463A>C	2.37:g.152472613T>G	ENSP00000172853:p.Lys3488Thr		152180859	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	18.32	3.598058	0.66332	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.25	4.08	0.47627	.	0.351121	0.28784	N	0.014147	T	0.66470	0.2792	M	0.77616	2.38	0.80722	D	1	B	0.15473	0.013	B	0.23018	0.043	T	0.68146	-0.5486	10	0.54805	T	0.06	.	10.7863	0.46407	0.0:0.0806:0.0:0.9194	.	3488	P20929	NEBU_HUMAN	T	3488;3731;3731;3488	ENSP00000386259:K3488T;ENSP00000380505:K3731T;ENSP00000416578:K3731T;ENSP00000172853:K3488T	ENSP00000172853:K3488T	K	-	2	0	NEB	152180859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.490000	0.45294	2.104000	0.64026	0.528000	0.53228	AAA		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152501066	152501066	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152501066C>A	ENST00000172853.10	-	56	7707	c.7560G>T	c.(7558-7560)gaG>gaT	p.E2520D	NEB_ENST00000604864.1_Missense_Mutation_p.E2520D|NEB_ENST00000427231.2_Missense_Mutation_p.E2520D|NEB_ENST00000397345.3_Missense_Mutation_p.E2520D|NEB_ENST00000603639.1_Missense_Mutation_p.E2520D|NEB_ENST00000409198.1_Missense_Mutation_p.E2520D			P20929	NEBU_HUMAN	nebulin	2520					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E2520D(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTCAGCTCCTCATAACCCA	0.388																																					p.E2520D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7560T	2						.						141.0	131.0	135.0					2																	152501066		1841	4094	5935	152209312	SO:0001583	missense	4703	exon56			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7560G>T	2.37:g.152501066C>A	ENSP00000172853:p.Glu2520Asp		152209312	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312230	0.60414	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.4	1.58	0.23477	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.73372	2.23	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.62826	-0.6772	10	0.22706	T	0.39	.	8.7017	0.34329	0.0:0.4762:0.0:0.5238	.	2520	P20929	NEBU_HUMAN	D	2520	ENSP00000386259:E2520D;ENSP00000380505:E2520D;ENSP00000416578:E2520D;ENSP00000172853:E2520D	ENSP00000172853:E2520D	E	-	3	2	NEB	152209312	0.078000	0.21339	0.999000	0.59377	0.997000	0.91878	-0.258000	0.08733	0.077000	0.16863	0.557000	0.71058	GAG		0.388	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152502747	152502747	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152502747C>T	ENST00000172853.10	-	55	7580	c.7433G>A	c.(7432-7434)aGa>aAa	p.R2478K	NEB_ENST00000604864.1_Splice_Site_p.R2478K|NEB_ENST00000427231.2_Splice_Site_p.R2478K|NEB_ENST00000397345.3_Splice_Site_p.R2478K|NEB_ENST00000603639.1_Splice_Site_p.R2478K|NEB_ENST00000409198.1_Splice_Site_p.R2478K			P20929	NEBU_HUMAN	nebulin	2478					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.R2478K(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTATAAAGTCTCTAAAATAA	0.333																																					p.R2478K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7433A	2						.						56.0	51.0	53.0					2																	152502747		1812	4090	5902	152210993	SO:0001630	splice_region_variant	4703	exon55			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7432-1G>A	2.37:g.152502747C>T			152210993	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	10.37	1.331371	0.24167	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.6	3.78	0.43462	.	0.302133	0.36034	N	0.002833	T	0.31544	0.0800	L	0.58810	1.83	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13710	-1.0499	10	0.05525	T	0.97	.	7.9938	0.30256	0.2883:0.6381:0.0:0.0736	.	2478	P20929	NEBU_HUMAN	K	2478	ENSP00000386259:R2478K;ENSP00000380505:R2478K;ENSP00000416578:R2478K;ENSP00000172853:R2478K	ENSP00000172853:R2478K	R	-	2	0	NEB	152210993	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.046000	0.30354	0.816000	0.34421	0.655000	0.94253	AGA		0.333	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	Missense_Mutation
NEB	4703	broad.mit.edu	37	2	152518760	152518760	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152518760C>A	ENST00000172853.10	-	46	6006	c.5859G>T	c.(5857-5859)gaG>gaT	p.E1953D	NEB_ENST00000604864.1_Missense_Mutation_p.E1953D|NEB_ENST00000427231.2_Missense_Mutation_p.E1953D|NEB_ENST00000397345.3_Missense_Mutation_p.E1953D|NEB_ENST00000603639.1_Missense_Mutation_p.E1953D|NEB_ENST00000409198.1_Missense_Mutation_p.E1953D			P20929	NEBU_HUMAN	nebulin	1953					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E1953D(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACTAATAATCTCCATGGCTT	0.458																																					p.E1953D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5859T	2						.						114.0	110.0	111.0					2																	152518760		1885	4096	5981	152227006	SO:0001583	missense	4703	exon46			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5859G>T	2.37:g.152518760C>A	ENSP00000172853:p.Glu1953Asp		152227006	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	16.79	3.219378	0.58560	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08458	3.15;3.35;3.35;3.09	5.75	3.6	0.41247	.	0.118078	0.64402	D	0.000012	T	0.14270	0.0345	L	0.48935	1.535	0.80722	D	1	P	0.50528	0.936	P	0.54706	0.759	T	0.02244	-1.1189	10	0.36615	T	0.2	.	9.9	0.41342	0.0:0.7623:0.0:0.2377	.	1953	P20929	NEBU_HUMAN	D	1953	ENSP00000386259:E1953D;ENSP00000380505:E1953D;ENSP00000416578:E1953D;ENSP00000172853:E1953D	ENSP00000172853:E1953D	E	-	3	2	NEB	152227006	0.172000	0.23043	1.000000	0.80357	0.998000	0.95712	-0.335000	0.07873	1.570000	0.49709	0.650000	0.86243	GAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152554088	152554088	+	Silent	SNP	G	G	A	rs371658494		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152554088G>A	ENST00000172853.10	-	14	1374	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	NEB_ENST00000604864.1_Silent_p.L409L|NEB_ENST00000427231.2_Silent_p.L409L|NEB_ENST00000397345.3_Silent_p.L409L|NEB_ENST00000603639.1_Silent_p.L409L|NEB_ENST00000409198.1_Silent_p.L409L			P20929	NEBU_HUMAN	nebulin	409					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L409L(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAACAGTATCGAGCTTGAATT	0.328																																					p.L409L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1227T	2						.	G	,,	0,3660		0,0,1830	138.0	134.0	135.0		1227,1227,1227	-5.2	0.7	2		135	1,8173		0,1,4086	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,1,5916	AA,AG,GG		0.0122,0.0,0.0085	,,	409/8526,409/8526,409/6670	152554088	1,11833	1830	4087	5917	152262334	SO:0001819	synonymous_variant	4703	exon14			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1227C>T	2.37:g.152554088G>A			152262334	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.328	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152566209	152566209	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152566209C>A	ENST00000172853.10	-	12	1143	c.996G>T	c.(994-996)gaG>gaT	p.E332D	NEB_ENST00000604864.1_Missense_Mutation_p.E332D|NEB_ENST00000427231.2_Missense_Mutation_p.E332D|NEB_ENST00000397345.3_Missense_Mutation_p.E332D|NEB_ENST00000603639.1_Missense_Mutation_p.E332D|NEB_ENST00000409198.1_Missense_Mutation_p.E332D			P20929	NEBU_HUMAN	nebulin	332					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E332D(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATTTTATACTCTGGTGTTT	0.378																																					p.E332D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G996T	2						.						97.0	85.0	89.0					2																	152566209		1824	4075	5899	152274455	SO:0001583	missense	4703	exon12			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.996G>T	2.37:g.152566209C>A	ENSP00000172853:p.Glu332Asp		152274455	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	14.39	2.521711	0.44866	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.54	2.34	0.29019	.	0.197064	0.44097	D	0.000493	T	0.43166	0.1235	N	0.24115	0.695	0.80722	D	1	D	0.60160	0.987	P	0.59288	0.855	T	0.14008	-1.0488	10	0.18276	T	0.48	.	9.202	0.37265	0.0:0.6225:0.0:0.3775	.	332	P20929	NEBU_HUMAN	D	332;332;332;332;58	ENSP00000386259:E332D;ENSP00000380505:E332D;ENSP00000416578:E332D;ENSP00000172853:E332D	ENSP00000172853:E332D	E	-	3	2	NEB	152274455	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.702000	0.25631	0.722000	0.32252	0.655000	0.94253	GAG		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
ARL5A	26225	broad.mit.edu	37	2	152663435	152663435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:152663435C>A	ENST00000295087.8	-	5	702	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	ARL5A_ENST00000428992.2_Nonsense_Mutation_p.E94*	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	131					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.E131*(2)		breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GTCATGCATTCTTTAACATCT	0.373																																					p.E131X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G391T	2						.						94.0	85.0	88.0					2																	152663435		2203	4300	6503	152371681	SO:0001587	stop_gained	26225	exon5			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.391G>T	2.37:g.152663435C>A	ENSP00000295087:p.Glu131*		152371681	NM_012097	Q580I5	Nonsense_Mutation	SNP	ENST00000295087.8	37	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605948	0.96626	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	.	.	.	5.6	4.66	0.58398	.	0.150635	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.98	15.954	0.79865	0.0:0.8651:0.1349:0.0	.	.	.	.	X	131;94;94	.	ENSP00000295087:E131X	E	-	1	0	ARL5A	152371681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.041000	0.70988	2.640000	0.89533	0.561000	0.74099	GAA		0.373	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1		
STAM2	10254	broad.mit.edu	37	2	153006733	153006733	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:153006733C>T	ENST00000263904.4	-	2	400	c.51G>A	c.(49-51)acG>acA	p.T17T	STAM2_ENST00000465460.1_5'Flank	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	17	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T17T(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTACTCATTCGTGGCTTTTT	0.363																																					p.T17T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G51A	2						.						131.0	110.0	117.0					2																	153006733		2203	4299	6502	152714979	SO:0001819	synonymous_variant	10254	exon2			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.51G>A	2.37:g.153006733C>T			152714979	NM_005843	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	ENST00000263904.4	37	CCDS2196.1																																																																																				0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843	
FMNL2	114793	broad.mit.edu	37	2	153405596	153405596	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:153405596G>T	ENST00000288670.9	+	4	711	c.344G>T	c.(343-345)aGa>aTa	p.R115I		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	115	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.R115I(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATTTCTTTGAGAACTAACCAC	0.343																																					p.R115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344T	2						.						67.0	63.0	64.0					2																	153405596		1814	4074	5888	153113842	SO:0001583	missense	114793	exon4			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.344G>T	2.37:g.153405596G>T	ENSP00000288670:p.Arg115Ile		153113842	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000288670.9	37	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250234	0.80024	.	.	ENSG00000157827	ENST00000288670	D	0.90324	-2.65	5.86	5.86	0.93980	.	0.105395	0.64402	D	0.000002	D	0.96562	0.8878	M	0.91459	3.21	0.80722	D	1	D	0.64830	0.994	D	0.74348	0.983	D	0.96559	0.9414	10	0.87932	D	0	.	20.1581	0.98126	0.0:0.0:1.0:0.0	.	115	Q96PY5-3	.	I	115	ENSP00000288670:R115I	ENSP00000288670:R115I	R	+	2	0	FMNL2	153113842	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	8.709000	0.91379	2.937000	0.99478	0.650000	0.86243	AGA		0.343	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905	
FMNL2	114793	broad.mit.edu	37	2	153482066	153482066	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:153482066G>A	ENST00000475377.2	+	3	277	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000288670.9_Missense_Mutation_p.R651Q			Q96PY5	FMNL2_HUMAN	formin-like 2	651	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.R651Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GATGATGAGCGAATTCTGGAG	0.438																																					p.R651Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1952A	2						.						118.0	111.0	113.0					2																	153482066		1856	4092	5948	153190312	SO:0001583	missense	114793	exon16			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.77G>A	2.37:g.153482066G>A	ENSP00000418959:p.Arg26Gln		153190312	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.994758	0.74703	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.16324	2.35;2.35	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	L	0.28014	0.82	0.80722	D	1	D;B;B	0.53745	0.962;0.069;0.255	P;B;B	0.45881	0.496;0.041;0.057	T	0.00253	-1.1875	10	0.40728	T	0.16	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	651;132;651	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Q	651;132;26	ENSP00000288670:R651Q;ENSP00000418959:R26Q	ENSP00000288670:R651Q	R	+	2	0	FMNL2	153190312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.785000	0.75089	2.941000	0.99782	0.655000	0.94253	CGA		0.438	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905	
PRPF40A	55660	broad.mit.edu	37	2	153515506	153515506	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:153515506A>G	ENST00000410080.1	-	24	3065	c.2524T>C	c.(2524-2526)Tca>Cca	p.S842P		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	869					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S738P(1)|p.S869P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGCTTTTTTGACTTTTTATAA	0.323																																					p.S842P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2524C	2						.						47.0	48.0	48.0					2																	153515506		1804	4066	5870	153223752	SO:0001583	missense	55660	exon24			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2524T>C	2.37:g.153515506A>G	ENSP00000386458:p.Ser842Pro		153223752	NM_017892	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.054466	0.55218	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.35789	1.29	5.25	5.25	0.73442	.	0.188358	0.48767	D	0.000168	T	0.36826	0.0981	L	0.53249	1.67	0.54753	D	0.999982	P;P	0.49783	0.928;0.928	P;P	0.44811	0.461;0.461	T	0.19778	-1.0295	10	0.48119	T	0.1	-0.5388	10.6996	0.45920	0.8576:0.0:0.0:0.1424	.	869;842	O75400;E9PFS0	PR40A_HUMAN;.	P	842;851;738;793	ENSP00000386458:S842P	ENSP00000348770:S851P	S	-	1	0	PRPF40A	153223752	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.075000	0.71261	2.130000	0.65690	0.456000	0.33151	TCA		0.323	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
NBAS	51594	broad.mit.edu	37	2	15468417	15468417	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:15468417G>A	ENST00000281513.5	-	37	4392	c.4367C>T	c.(4366-4368)gCa>gTa	p.A1456V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1336V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1456					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1456V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GATTTGATATGCACCACCACA	0.378																																					p.A1456V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4367T	2						.						164.0	150.0	155.0					2																	15468417		2203	4300	6503	15385868	SO:0001583	missense	51594	exon37			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4367C>T	2.37:g.15468417G>A	ENSP00000281513:p.Ala1456Val		15385868	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.367|8.367	0.834424|0.834424	0.16820|0.16820	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10288|.	2.89;3.06|.	5.45|5.45	1.09|1.09	0.20402|0.20402	.|.	0.686003|.	0.16185|.	N|.	0.225680|.	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	B;B|.	0.20052|.	0.041;0.0|.	B;B|.	0.19391|.	0.025;0.001|.	T|T	0.27536|0.27536	-1.0071|-1.0071	10|5	0.87932|.	D|.	0|.	.|.	6.5682|6.5682	0.22523|0.22523	0.4883:0.0:0.5117:0.0|0.4883:0.0:0.5117:0.0	.|.	1336;1456|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|Y	1336;1456|504	ENSP00000413201:A1336V;ENSP00000281513:A1456V|.	ENSP00000281513:A1456V|.	A|H	-|-	2|1	0|0	NBAS|NBAS	15385868|15385868	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	1.009000|1.009000	0.29886|0.29886	0.373000|0.373000	0.24621|0.24621	-0.150000|-0.150000	0.13652|0.13652	GCA|CAT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
PRPF40A	55660	broad.mit.edu	37	2	153527834	153527834	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:153527834G>T	ENST00000410080.1	-	14	1973	c.1432C>A	c.(1432-1434)Ctt>Att	p.L478I		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	505	FF 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L505I(1)|p.L374I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TAGATTTCAAGACGATCACGT	0.269																																					p.L478I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1432A	2						.						98.0	99.0	99.0					2																	153527834		1796	4064	5860	153236080	SO:0001583	missense	55660	exon14			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1432C>A	2.37:g.153527834G>T	ENSP00000386458:p.Leu478Ile		153236080	NM_017892	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	ENST00000410080.1	37	CCDS46430.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477087	0.84640	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.34275	1.37	5.41	4.53	0.55603	FF domain (4);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	N	0.22421	0.69	0.53005	D	0.99996	D;D	0.63046	0.992;0.992	P;D	0.67725	0.814;0.953	T	0.48468	-0.9033	10	0.72032	D	0.01	-10.5526	14.1767	0.65546	0.0725:0.0:0.9275:0.0	.	505;478	O75400;E9PFS0	PR40A_HUMAN;.	I	478;487;374;425	ENSP00000386458:L478I	ENSP00000348770:L487I	L	-	1	0	PRPF40A	153236080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.542000	0.67218	1.413000	0.46997	0.591000	0.81541	CTT		0.269	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333559.2	XM_371575	
NR4A2	4929	broad.mit.edu	37	2	157185044	157185044	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:157185044C>T	ENST00000339562.4	-	4	1228	c.866G>A	c.(865-867)cGc>cAc	p.R289H	NR4A2_ENST00000409572.1_Splice_Site_p.R289H|NR4A2_ENST00000539077.1_Splice_Site_p.R300H|NR4A2_ENST00000429376.1_Splice_Site_p.R226H|NR4A2_ENST00000426264.1_Splice_Site_p.R226H|NR4A2_ENST00000409108.2_Splice_Site_p.R289H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	289					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R289H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TTGCACTGTGCGCTGCAAAAG	0.418																																					p.R289H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G866A	2						.						66.0	66.0	66.0					2																	157185044		2203	4300	6503	156893290	SO:0001630	splice_region_variant	4929	exon4			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.865-1G>A	2.37:g.157185044C>T			156893290	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365293	0.82463	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376	D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	6.17	6.17	0.99709	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96830	0.9610	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	289	P43354	NR4A2_HUMAN	H	289;226;289;300;289;226	ENSP00000344479:R289H;ENSP00000389986:R226H;ENSP00000386747:R289H;ENSP00000444925:R300H;ENSP00000386993:R289H;ENSP00000410952:R226H	ENSP00000344479:R289H	R	-	2	0	NR4A2	156893290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.418	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		Missense_Mutation
GPD2	2820	broad.mit.edu	37	2	157425919	157425919	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:157425919A>C	ENST00000310454.6	+	11	1717	c.1345A>C	c.(1345-1347)Aat>Cat	p.N449H	GPD2_ENST00000409674.1_Missense_Mutation_p.N449H|GPD2_ENST00000438166.2_Missense_Mutation_p.N449H|GPD2_ENST00000409125.4_Missense_Mutation_p.N222H|GPD2_ENST00000540309.1_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	449					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)	p.N449H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGATACCATAAATGCTGCTGT	0.393																																					p.N449H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1345C	2						.						78.0	77.0	77.0					2																	157425919		2203	4300	6503	157134165	SO:0001583	missense	2820	exon11				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1345A>C	2.37:g.157425919A>C	ENSP00000308610:p.Asn449His		157134165	NM_001083112	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.749117	0.49257	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.78	-0.949	0.10376	.	0.129759	0.64402	D	0.000002	T	0.45135	0.1327	M	0.68952	2.095	0.31156	N	0.70488	B	0.09022	0.002	B	0.22601	0.04	T	0.45760	-0.9239	10	0.87932	D	0	.	6.063	0.19848	0.2685:0.0:0.5635:0.168	.	449	P43304	GPDM_HUMAN	H	449;222;449;449	ENSP00000308610:N449H;ENSP00000386484:N222H;ENSP00000409708:N449H;ENSP00000386425:N449H	ENSP00000308610:N449H	N	+	1	0	GPD2	157134165	1.000000	0.71417	0.111000	0.21465	0.998000	0.95712	2.849000	0.48286	-0.143000	0.11334	0.528000	0.53228	AAT		0.393	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3		
GALNT5	11227	broad.mit.edu	37	2	158114861	158114861	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158114861G>T	ENST00000259056.4	+	1	752	c.267G>T	c.(265-267)gaG>gaT	p.E89D		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	89					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E89D(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCAAAGAGAATGTTAGAA	0.478																																					p.E89D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G267T	2						.						113.0	118.0	117.0					2																	158114861		2203	4300	6503	157823107	SO:0001583	missense	11227	exon1			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.267G>T	2.37:g.158114861G>T	ENSP00000259056:p.Glu89Asp		157823107	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579645	0.86645	.	.	ENSG00000136542	ENST00000259056	T	0.60797	0.16	5.51	4.62	0.57501	.	1.158020	0.06288	N	0.698697	T	0.54143	0.1840	L	0.36672	1.1	0.33076	D	0.535949	B	0.21225	0.053	B	0.20184	0.028	T	0.53236	-0.8467	10	0.87932	D	0	.	13.8542	0.63515	0.0:0.1535:0.8465:0.0	.	89	Q7Z7M9	GALT5_HUMAN	D	89	ENSP00000259056:E89D	ENSP00000259056:E89D	E	+	3	2	GALNT5	157823107	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.452000	0.44961	1.431000	0.47355	0.655000	0.94253	GAG		0.478	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
GALNT5	11227	broad.mit.edu	37	2	158115166	158115166	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158115166T>C	ENST00000259056.4	+	1	1057	c.572T>C	c.(571-573)gTc>gCc	p.V191A		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	191					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.V191A(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATGGGACGTGTCAGTTTAAAA	0.473																																					p.V191A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T572C	2						.						49.0	53.0	52.0					2																	158115166		2203	4300	6503	157823412	SO:0001583	missense	11227	exon1			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.572T>C	2.37:g.158115166T>C	ENSP00000259056:p.Val191Ala		157823412	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020348	0.35606	.	.	ENSG00000136542	ENST00000259056	T	0.58210	0.35	4.83	-1.85	0.07784	.	5.342070	0.00166	N	0.000009	T	0.38081	0.1027	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.66056	D	0.02	.	5.1345	0.14928	0.0:0.382:0.3346:0.2834	.	191	Q7Z7M9	GALT5_HUMAN	A	191	ENSP00000259056:V191A	ENSP00000259056:V191A	V	+	2	0	GALNT5	157823412	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.118000	0.10692	-0.155000	0.11098	-0.313000	0.08912	GTC		0.473	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
GALNT5	11227	broad.mit.edu	37	2	158115886	158115886	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158115886C>A	ENST00000259056.4	+	1	1777	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	431					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S431Y(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGACACTTTCTCCAAGGGAC	0.488																																					p.S431Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1292A	2						.						73.0	72.0	72.0					2																	158115886		2203	4300	6503	157824132	SO:0001583	missense	11227	exon1			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1292C>A	2.37:g.158115886C>A	ENSP00000259056:p.Ser431Tyr		157824132	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487938	0.84854	.	.	ENSG00000136542	ENST00000259056	T	0.59224	0.28	6.05	6.05	0.98169	.	0.889887	0.09869	N	0.745178	T	0.69314	0.3097	L	0.50333	1.59	0.39389	D	0.966396	D	0.67145	0.996	P	0.56700	0.804	T	0.66268	-0.5966	10	0.66056	D	0.02	.	16.4622	0.84064	0.0:0.8689:0.1311:0.0	.	431	Q7Z7M9	GALT5_HUMAN	Y	431	ENSP00000259056:S431Y	ENSP00000259056:S431Y	S	+	2	0	GALNT5	157824132	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	1.677000	0.37576	2.878000	0.98634	0.650000	0.86243	TCT		0.488	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
GALNT5	11227	broad.mit.edu	37	2	158157217	158157217	+	Silent	SNP	C	C	A	rs201738512		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158157217C>A	ENST00000259056.4	+	7	2630	c.2145C>A	c.(2143-2145)atC>atA	p.I715I	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	715	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I715I(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAATTGAGATCATTCCCTGCT	0.438																																					p.I715I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2145A	2						.						151.0	148.0	149.0					2																	158157217		2203	4300	6503	157865463	SO:0001819	synonymous_variant	11227	exon7			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2145C>A	2.37:g.158157217C>A			157865463	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	CCDS2203.1																																																																																				0.438	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
ACVR1C	130399	broad.mit.edu	37	2	158397681	158397681	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158397681G>T	ENST00000243349.8	-	7	1506	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	ACVR1C_ENST00000409680.3_Silent_p.I332I|ACVR1C_ENST00000335450.7_Silent_p.I302I|ACVR1C_ENST00000348328.5_Silent_p.I225I	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.I382I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AGGACTCAAAGATATTCACAT	0.383																																					p.I332I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C996A	2						.						144.0	145.0	144.0					2																	158397681		2203	4300	6503	158105927	SO:0001819	synonymous_variant	130399	exon7			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1146C>A	2.37:g.158397681G>T			158105927	NM_001111031		Silent	SNP	ENST00000243349.8	37	CCDS2205.1																																																																																				0.383	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
ACVR1C	130399	broad.mit.edu	37	2	158399351	158399351	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158399351C>A	ENST00000243349.8	-	6	1327	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	ACVR1C_ENST00000409680.3_Missense_Mutation_p.D273Y|ACVR1C_ENST00000335450.7_Missense_Mutation_p.D243Y|ACVR1C_ENST00000348328.5_Missense_Mutation_p.D166Y	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.D323Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GATTTTATGTCTCGATGAGCA	0.373																																					p.D273Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817T	2						.						165.0	153.0	157.0					2																	158399351		2203	4300	6503	158107597	SO:0001583	missense	130399	exon6			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.967G>T	2.37:g.158399351C>A	ENSP00000243349:p.Asp323Tyr		158107597	NM_001111031		Missense_Mutation	SNP	ENST00000243349.8	37	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817640	0.90790	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000057	D	0.98333	0.9447	H	0.98612	4.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98991	1.0808	10	0.87932	D	0	.	19.9422	0.97170	0.0:1.0:0.0:0.0	.	166;243;323	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	Y	323;273;166;243	ENSP00000243349:D323Y;ENSP00000387168:D273Y;ENSP00000335139:D166Y;ENSP00000335178:D243Y	ENSP00000243349:D323Y	D	-	1	0	ACVR1C	158107597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GAC		0.373	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	
ACVR1	90	broad.mit.edu	37	2	158622630	158622630	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:158622630G>A	ENST00000263640.3	-	8	1298	c.869C>T	c.(868-870)tCg>tTg	p.S290L	ACVR1_ENST00000410057.2_Missense_Mutation_p.S290L|ACVR1_ENST00000434821.1_Missense_Mutation_p.S290L|ACVR1_ENST00000409283.2_Missense_Mutation_p.S290L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.S290L(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GTCGTACAACGATCCCATTTC	0.413																																					p.S290L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C869T	2						.						105.0	93.0	97.0					2																	158622630		2203	4300	6503	158330876	SO:0001583	missense	90	exon8				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.869C>T	2.37:g.158622630G>A	ENSP00000263640:p.Ser290Leu		158330876	NM_001111067		Missense_Mutation	SNP	ENST00000263640.3	37	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549165	0.96488	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98264	1.0500	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	290	Q04771	ACVR1_HUMAN	L	290	ENSP00000263640:S290L;ENSP00000387273:S290L;ENSP00000405004:S290L;ENSP00000387127:S290L	ENSP00000263640:S290L	S	-	2	0	ACVR1	158330876	1.000000	0.71417	0.967000	0.41034	0.979000	0.70002	7.922000	0.87538	2.941000	0.99782	0.655000	0.94253	TCG		0.413	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	
PKP4	8502	broad.mit.edu	37	2	159459596	159459596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:159459596C>A	ENST00000389759.3	+	4	372	c.260C>A	c.(259-261)tCa>tAa	p.S87*	PKP4_ENST00000389757.3_Nonsense_Mutation_p.S87*	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	87					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S87*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACTGAGAAGTCATTTCCTTGG	0.269										HNSCC(62;0.18)																											p.S87X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C260A	2						.						42.0	51.0	48.0					2																	159459596		2188	4276	6464	159167842	SO:0001587	stop_gained	8502	exon4			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.260C>A	2.37:g.159459596C>A	ENSP00000374409:p.Ser87*		159167842	NM_003628	Q86W91	Nonsense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947250	0.97134	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	.	.	.	5.58	5.58	0.84498	.	0.280723	0.35870	N	0.002924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2382	15.4147	0.74956	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000374407:S87X	S	+	2	0	PKP4	159167842	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.152000	0.58111	2.792000	0.96026	0.555000	0.69702	TCA		0.269	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
PKP4	8502	broad.mit.edu	37	2	159537101	159537101	+	Missense_Mutation	SNP	C	C	T	rs199647676		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:159537101C>T	ENST00000389759.3	+	22	3603	c.3491C>T	c.(3490-3492)tCg>tTg	p.S1164L	AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.S1121L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1164					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.S1164L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGACTGAAATCGACCACAAAT	0.418										HNSCC(62;0.18)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18242	0.0		0.001	False		,,,				2504	0.0				p.S1164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3491T	2						.						131.0	131.0	131.0					2																	159537101		2203	4300	6503	159245347	SO:0001583	missense	8502	exon22			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3491C>T	2.37:g.159537101C>T	ENSP00000374409:p.Ser1164Leu		159245347	NM_003628	Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.50	3.636819	0.67130	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;T	0.81996	-1.56;-1.39	5.49	5.49	0.81192	.	0.249150	0.35495	N	0.003179	T	0.79661	0.4484	L	0.29908	0.895	0.80722	D	1	D;D;D	0.57899	0.967;0.981;0.967	B;P;B	0.44696	0.242;0.458;0.242	T	0.82833	-0.0262	10	0.87932	D	0	-6.9202	19.7433	0.96241	0.0:1.0:0.0:0.0	.	1119;1121;1164	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	L	1121;1164	ENSP00000374407:S1121L;ENSP00000374409:S1164L	ENSP00000374407:S1121L	S	+	2	0	PKP4	159245347	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	7.445000	0.80570	2.733000	0.93635	0.655000	0.94253	TCG		0.418	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
TANC1	85461	broad.mit.edu	37	2	160075828	160075828	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160075828C>T	ENST00000263635.6	+	21	3695	c.3458C>T	c.(3457-3459)gCt>gTt	p.A1153V	TANC1_ENST00000454300.1_Missense_Mutation_p.A1047V	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1153					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.A1153V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGTGGCTGCTTGTGAAGGG	0.507																																					p.A1153V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3458T	2						.						121.0	126.0	125.0					2																	160075828		2009	4178	6187	159784074	SO:0001583	missense	85461	exon21			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3458C>T	2.37:g.160075828C>T	ENSP00000263635:p.Ala1153Val		159784074	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.975178	0.97162	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70516	-0.04;-0.49	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.182250	0.47455	D	0.000222	T	0.73845	0.3639	N	0.20845	0.615	0.80722	D	1	P;P;D	0.63046	0.86;0.638;0.992	B;B;P	0.61275	0.404;0.154;0.886	T	0.78048	-0.2356	10	0.87932	D	0	.	19.0001	0.92830	0.0:1.0:0.0:0.0	.	1145;1047;1153	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	V	1047;1153	ENSP00000396339:A1047V;ENSP00000263635:A1153V	ENSP00000263635:A1153V	A	+	2	0	TANC1	159784074	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.069000	0.71209	2.578000	0.87016	0.655000	0.94253	GCT		0.507	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
TANC1	85461	broad.mit.edu	37	2	160085307	160085307	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160085307G>A	ENST00000263635.6	+	26	4288	c.4051G>A	c.(4051-4053)Gac>Aac	p.D1351N	TANC1_ENST00000454300.1_Splice_Site_p.D1245N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1351					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.D1351N(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCGACACCAGGACTTTGGCAT	0.498																																					p.D1351N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4051A	2						.						159.0	157.0	158.0					2																	160085307		2002	4173	6175	159793553	SO:0001630	splice_region_variant	85461	exon26			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4051-1G>A	2.37:g.160085307G>A			159793553	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597474	0.96602	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.74209	-0.82;-0.82	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	L	0.37750	1.13	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.91635	0.999;0.888	T	0.79165	-0.1916	9	.	.	.	.	19.2808	0.94052	0.0:0.0:1.0:0.0	.	1343;1351	B9EK39;Q9C0D5	.;TANC1_HUMAN	N	1245;1351	ENSP00000396339:D1245N;ENSP00000263635:D1351N	.	D	+	1	0	TANC1	159793553	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.623000	0.88846	0.655000	0.94253	GAC		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		Missense_Mutation
WDSUB1	151525	broad.mit.edu	37	2	160092547	160092547	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160092547C>A	ENST00000409990.3	-	11	1684	c.1428G>T	c.(1426-1428)aaG>aaT	p.K476N	WDSUB1_ENST00000392796.3_Missense_Mutation_p.K476N|WDSUB1_ENST00000359774.4_Missense_Mutation_p.K476N|WDSUB1_ENST00000358147.4_Missense_Mutation_p.K384N|WDSUB1_ENST00000409124.1_Missense_Mutation_p.K429N	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	476	U-box.						ubiquitin-protein transferase activity (GO:0004842)	p.K476N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						AACAATTTTACTTTTGGTGTG	0.323																																					p.K476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1428T	2						.						69.0	69.0	69.0					2																	160092547		2203	4300	6503	159800793	SO:0001583	missense	151525	exon11			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1428G>T	2.37:g.160092547C>A	ENSP00000387078:p.Lys476Asn		159800793	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331259	0.41297	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.59906	0.6;0.23;0.6;0.6;0.57	6.17	2.53	0.30540	U box domain (1);	0.169946	0.41097	D	0.000949	T	0.43612	0.1255	L	0.36672	1.1	0.29006	N	0.88719	B;B;B	0.14438	0.01;0.003;0.003	B;B;B	0.19391	0.025;0.019;0.019	T	0.41413	-0.9510	10	0.87932	D	0	.	5.877	0.18834	0.0:0.1544:0.1393:0.7063	.	384;429;476	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	N	476;384;476;476;429	ENSP00000352820:K476N;ENSP00000350866:K384N;ENSP00000376545:K476N;ENSP00000387078:K476N;ENSP00000386891:K429N	ENSP00000350866:K384N	K	-	3	2	WDSUB1	159800793	0.623000	0.27094	1.000000	0.80357	0.154000	0.21943	0.824000	0.27379	0.198000	0.20407	-0.175000	0.13238	AAG		0.323	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
BAZ2B	29994	broad.mit.edu	37	2	160206398	160206398	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160206398G>T	ENST00000392783.2	-	28	5179	c.4684C>A	c.(4684-4686)Ctt>Att	p.L1562I	BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1526I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1462I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1528I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1562I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGTGGCAAAAGACTAAACCAT	0.448																																					p.L1562I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4684A	2						.						194.0	192.0	193.0					2																	160206398		2105	4227	6332	159914644	SO:0001583	missense	29994	exon28			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4684C>A	2.37:g.160206398G>T	ENSP00000376534:p.Leu1562Ile		159914644	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152665	0.38021	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.68479	-0.33;-0.26;-0.33;-0.28	6.17	5.29	0.74685	.	0.000000	0.33553	U	0.004788	T	0.80717	0.4676	M	0.72894	2.215	0.53688	D	0.999974	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.994	T	0.81575	-0.0870	10	0.48119	T	0.1	-8.7007	15.4602	0.75349	0.066:0.0:0.934:0.0	.	1526;1562	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	1526;1562;1528;1462	ENSP00000376533:L1526I;ENSP00000376534:L1562I;ENSP00000348087:L1528I;ENSP00000339670:L1462I	ENSP00000339670:L1462I	L	-	1	0	BAZ2B	159914644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.422000	0.80217	1.616000	0.50265	0.655000	0.94253	CTT		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
BAZ2B	29994	broad.mit.edu	37	2	160241704	160241704	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160241704G>T	ENST00000392783.2	-	23	4143	c.3648C>A	c.(3646-3648)ttC>ttA	p.F1216L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.F1180L|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.F1116L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F1182L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F1216L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATTGATCAGGAAAGCCAGGA	0.438																																					p.F1216L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3648A	2						.						134.0	131.0	132.0					2																	160241704		1903	4135	6038	159949950	SO:0001583	missense	29994	exon23			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3648C>A	2.37:g.160241704G>T	ENSP00000376534:p.Phe1216Leu		159949950	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447351	0.84101	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.62941	0.05;0.08;0.05;-0.01	5.75	1.91	0.25777	.	0.000000	0.38548	U	0.001644	T	0.73241	0.3562	M	0.74467	2.265	0.50467	D	0.999872	B;D	0.71674	0.037;0.998	B;D	0.73380	0.024;0.98	T	0.70912	-0.4743	10	0.59425	D	0.04	-2.7574	7.2237	0.26003	0.2579:0.1145:0.6276:0.0	.	1180;1216	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	1180;1216;1182;1116	ENSP00000376533:F1180L;ENSP00000376534:F1216L;ENSP00000348087:F1182L;ENSP00000339670:F1116L	ENSP00000339670:F1116L	F	-	3	2	BAZ2B	159949950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.829000	0.39121	0.341000	0.23771	0.655000	0.94253	TTC		0.438	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
MYCN	4613	broad.mit.edu	37	2	16082286	16082286	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:16082286G>T	ENST00000281043.3	+	2	397	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000439180.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	34					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D34Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GGACGAAGATGACTTCTACTT	0.637			A		neuroblastoma																																p.D34Y			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100T	2						.						46.0	49.0	48.0					2																	16082286		2203	4300	6503	15999737	SO:0001583	missense	4613	exon2			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.100G>T	2.37:g.16082286G>T	ENSP00000281043:p.Asp34Tyr		15999737	NM_005378	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205363	0.79127	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.24723	1.84	3.22	3.22	0.36961	Transcription regulator Myc, N-terminal (1);	0.082006	0.46442	U	0.000281	T	0.54287	0.1849	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65668	-0.6112	10	0.87932	D	0	-7.9728	14.78	0.69760	0.0:0.0:1.0:0.0	.	34	P04198	MYCN_HUMAN	Y	34	ENSP00000281043:D34Y	ENSP00000281043:D34Y	D	+	1	0	MYCN	15999737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.548000	0.98103	1.522000	0.49001	0.561000	0.74099	GAC		0.637	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
MYCN	4613	broad.mit.edu	37	2	16085942	16085942	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:16085942G>A	ENST00000281043.3	+	3	1415	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	373					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R373Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTGAGCCCCCGAAACTCTGAC	0.597			A		neuroblastoma																																p.R373Q			Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118A	2						.						50.0	53.0	52.0					2																	16085942		2203	4300	6503	16003393	SO:0001583	missense	4613	exon3			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.1118G>A	2.37:g.16085942G>A	ENSP00000281043:p.Arg373Gln		16003393	NM_005378	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062475	0.93898	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.81579	-1.51	4.99	4.99	0.66335	.	1.466510	0.04383	N	0.361122	D	0.89681	0.6785	L	0.58669	1.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	T	0.80427	-0.1387	10	0.87932	D	0	-1.189	18.6563	0.91455	0.0:0.0:1.0:0.0	.	373	P04198	MYCN_HUMAN	Q	373;291	ENSP00000281043:R373Q	ENSP00000281043:R373Q	R	+	2	0	MYCN	16003393	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.792000	0.99085	2.505000	0.84491	0.655000	0.94253	CGA		0.597	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
BAZ2B	29994	broad.mit.edu	37	2	160268930	160268930	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160268930G>A	ENST00000392783.2	-	14	3088	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R829W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R765W|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R831W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	865	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R865W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CGACCTTTCCGACGTCTCATC	0.453																																					p.R865W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2593T	2						.						254.0	228.0	236.0					2																	160268930		1956	4148	6104	159977176	SO:0001583	missense	29994	exon14			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2593C>T	2.37:g.160268930G>A	ENSP00000376534:p.Arg865Trp		159977176	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778851	0.70107	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;D	0.86366	0.16;0.23;0.16;-2.11	5.56	5.56	0.83823	.	0.000000	0.35378	U	0.003248	D	0.89308	0.6678	L	0.29908	0.895	0.58432	D	0.999995	P;P;D;P	0.89917	0.523;0.477;1.0;0.53	B;B;D;B	0.79108	0.089;0.106;0.992;0.069	D	0.90178	0.4240	10	0.72032	D	0.01	-8.3128	14.3697	0.66830	0.0:0.0:0.852:0.148	.	669;765;829;865	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	W	829;865;831;765	ENSP00000376533:R829W;ENSP00000376534:R865W;ENSP00000348087:R831W;ENSP00000339670:R765W	ENSP00000339670:R765W	R	-	1	2	BAZ2B	159977176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.388000	0.59633	2.605000	0.88082	0.557000	0.71058	CGG		0.453	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
LY75	4065	broad.mit.edu	37	2	160661611	160661611	+	Nonsense_Mutation	SNP	G	G	A	rs139579850		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160661611G>A	ENST00000263636.4	-	35	5140	c.5113C>T	c.(5113-5115)Cga>Tga	p.R1705*	LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000504764.1_Intron	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1705					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R1705*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTGCATATCGAACTGATGAG	0.398																																					p.R1705X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5113T	2						.	G	,,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	85.0	87.0		,,5113	5.7	1.0	2	dbSNP_134	87	0,8600		0,0,4300	no	intron,intron,stop-gained	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,,1705/1723	160661611	1,13005	2203	4300	6503	160369857	SO:0001587	stop_gained	4065	exon35			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.5113C>T	2.37:g.160661611G>A	ENSP00000263636:p.Arg1705*		160369857	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Intron	SNP	ENST00000263636.4	37	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	41	8.903613	0.98996	2.27E-4	0.0	ENSG00000054219	ENST00000263636	.	.	.	5.66	5.66	0.87406	.	0.709223	0.10881	U	0.623853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6706	0.85266	0.0:0.0:1.0:0.0	.	.	.	.	X	1705	.	ENSP00000263636:R1705X	R	-	1	2	LY75	160369857	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	5.563000	0.67352	2.690000	0.91761	0.655000	0.94253	CGA		0.398	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
LY75	4065	broad.mit.edu	37	2	160676304	160676304	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160676304G>T	ENST00000263636.4	-	29	4113	c.4086C>A	c.(4084-4086)acC>acA	p.T1362T	LY75-CD302_ENST00000505052.1_Silent_p.T1362T|LY75_ENST00000554112.1_Silent_p.T1362T|LY75_ENST00000553424.1_Silent_p.T1362T|LY75-CD302_ENST00000504764.1_Silent_p.T1362T	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1362	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.T1362T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TAACTTTAAAGGTTTGAATAT	0.353																																					p.T1362T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4086A	2						.						83.0	90.0	88.0					2																	160676304		2203	4300	6503	160384550	SO:0001819	synonymous_variant	4065	exon29			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4086C>A	2.37:g.160676304G>T			160384550	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																				0.353	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
PLA2R1	22925	broad.mit.edu	37	2	160806201	160806201	+	Silent	SNP	G	G	A	rs374812046		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160806201G>A	ENST00000283243.7	-	25	3833	c.3627C>T	c.(3625-3627)tgC>tgT	p.C1209C	PLA2R1_ENST00000392771.1_Silent_p.C1209C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1209	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.C1209C(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CGGCAAAAACGCAGTCACCAA	0.478																																					p.C1209C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3627T	2						.	G	,,	0,4406		0,0,2203	86.0	81.0	83.0		3627,3627,3627	0.6	1.0	2		83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PLA2R1	NM_001007267.2,NM_001195641.1,NM_007366.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	1209/1325,1209/1462,1209/1464	160806201	2,13004	2203	4300	6503	160514447	SO:0001819	synonymous_variant	22925	exon25			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3627C>T	2.37:g.160806201G>A			160514447	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.478	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	broad.mit.edu	37	2	160832605	160832605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160832605C>A	ENST00000283243.7	-	17	2775	c.2569G>T	c.(2569-2571)Gaa>Taa	p.E857*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.E857*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	857	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.E857*(1)|p.E857K(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGGATGAATTCTTGCTCATGT	0.423																																					p.E857X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G2569T	2						.						161.0	150.0	154.0					2																	160832605		2203	4300	6503	160540851	SO:0001587	stop_gained	22925	exon17			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2569G>T	2.37:g.160832605C>A	ENSP00000283243:p.Glu857*		160540851	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Nonsense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	40	8.310297	0.98754	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	5.18	5.18	0.71444	.	0.299112	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	17.8206	0.88649	0.0:1.0:0.0:0.0	.	.	.	.	X	857	.	ENSP00000283243:E857X	E	-	1	0	PLA2R1	160540851	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.449000	0.52950	2.560000	0.86352	0.561000	0.74099	GAA		0.423	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
PLA2R1	22925	broad.mit.edu	37	2	160901352	160901352	+	Silent	SNP	C	C	T	rs267598938		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:160901352C>T	ENST00000283243.7	-	2	632	c.426G>A	c.(424-426)cgG>cgA	p.R142R	PLA2R1_ENST00000392771.1_Silent_p.R142R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	142	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.		R -> Q (in dbSNP:rs12327936).		cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.R142R(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GAATATACTTCCGTGAGGCCA	0.468																																					p.R142R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G426A	2						.						77.0	80.0	79.0					2																	160901352		2203	4300	6503	160609598	SO:0001819	synonymous_variant	22925	exon2			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.426G>A	2.37:g.160901352C>T			160609598	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	CCDS33309.1																																																																																				0.468	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
TANK	10010	broad.mit.edu	37	2	162087536	162087536	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162087536C>T	ENST00000392749.2	+	7	814	c.575C>T	c.(574-576)gCg>gTg	p.A192V	AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Missense_Mutation_p.A192V|TANK_ENST00000259075.2_Missense_Mutation_p.A192V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	192					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.A192V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAACAAGAAGCGCTGTTTAAG	0.438																																					p.A192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	2						.						64.0	61.0	62.0					2																	162087536		2203	4300	6503	161795782	SO:0001583	missense	10010	exon7			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.575C>T	2.37:g.162087536C>T	ENSP00000376505:p.Ala192Val		161795782	NM_001199135	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	C	5.480	0.273540	0.10403	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	T;T;T;T	0.32753	1.88;1.88;1.44;1.46	5.78	-1.47	0.08772	.	0.499035	0.23123	N	0.051672	T	0.10508	0.0257	N	0.08118	0	0.31671	N	0.644309	B	0.12013	0.005	B	0.06405	0.002	T	0.21793	-1.0235	10	0.15952	T	0.53	-0.0219	4.2335	0.10615	0.3811:0.2845:0.0:0.3344	.	192	Q92844	TANK_HUMAN	V	192;192;192;83	ENSP00000259075:A192V;ENSP00000376505:A192V;ENSP00000385487:A192V;ENSP00000412556:A83V	ENSP00000259075:A192V	A	+	2	0	TANK	161795782	0.507000	0.26146	0.460000	0.27093	0.174000	0.22865	0.196000	0.17176	-0.052000	0.13311	-0.186000	0.12905	GCG		0.438	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	
TANK	10010	broad.mit.edu	37	2	162087872	162087872	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162087872A>C	ENST00000392749.2	+	7	1150	c.911A>C	c.(910-912)aAa>aCa	p.K304T	AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|TANK_ENST00000405852.1_Missense_Mutation_p.K304T|TANK_ENST00000259075.2_Missense_Mutation_p.K304T	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	304					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.K304T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAAAACCTTAAAACAACTGAC	0.398																																					p.K304T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A911C	2						.						95.0	95.0	95.0					2																	162087872		2203	4300	6503	161796118	SO:0001583	missense	10010	exon7			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.911A>C	2.37:g.162087872A>C	ENSP00000376505:p.Lys304Thr		161796118	NM_001199135	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204558	0.22205	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.35048	1.79;1.79;1.33;1.35;1.84	5.58	4.35	0.52113	.	0.230481	0.37809	N	0.001932	T	0.25975	0.0633	L	0.43152	1.355	0.80722	D	1	B	0.21071	0.051	B	0.14023	0.01	T	0.08166	-1.0735	10	0.23891	T	0.37	-15.4339	6.8538	0.24030	0.6344:0.2461:0.0:0.1194	.	304	Q92844	TANK_HUMAN	T	304;304;304;195;59	ENSP00000259075:K304T;ENSP00000376505:K304T;ENSP00000385487:K304T;ENSP00000412556:K195T;ENSP00000387439:K59T	ENSP00000259075:K304T	K	+	2	0	TANK	161796118	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.309000	0.33539	2.250000	0.74265	0.482000	0.46254	AAA		0.398	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	
TBR1	10716	broad.mit.edu	37	2	162274716	162274716	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162274716T>C	ENST00000389554.3	+	3	1169	c.852T>C	c.(850-852)aaT>aaC	p.N284N	TBR1_ENST00000410035.1_5'UTR	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	284					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N284N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTCTAGGAAATCGGGTCTATA	0.473																																					p.N284N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T852C	2						.						55.0	58.0	57.0					2																	162274716		2203	4300	6503	161982962	SO:0001819	synonymous_variant	10716	exon3			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.852T>C	2.37:g.162274716T>C			161982962	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																				0.473	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
SLC4A10	57282	broad.mit.edu	37	2	162696337	162696337	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162696337G>A	ENST00000446997.1	+	4	409	c.316G>A	c.(316-318)Gag>Aag	p.E106K	SLC4A10_ENST00000375514.5_Missense_Mutation_p.E117K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E106K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Missense_Mutation_p.E106K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E106K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E106K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	106					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.E106K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCTTGGAACCGAGGATGATGA	0.453																																					p.E117K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	2						.						124.0	121.0	122.0					2																	162696337		2086	4236	6322	162404583	SO:0001583	missense	57282	exon5				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.316G>A	2.37:g.162696337G>A	ENSP00000393066:p.Glu106Lys		162404583	NM_001178016	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817536	0.96982	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.80393	-1.34;-1.34;0.42;-1.35;-1.37;-1.37	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.82823	2.61	0.80722	D	1	D;P;D;D	0.89917	1.0;0.78;1.0;0.99	D;B;D;P	0.74674	0.984;0.277;0.984;0.715	D	0.90231	0.4279	10	0.48119	T	0.1	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	117;106;106;106	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	117;106;106;106;106;106;106;106	ENSP00000364664:E117K;ENSP00000395797:E106K;ENSP00000437527:E106K;ENSP00000272716:E106K;ENSP00000393066:E106K;ENSP00000404486:E106K	ENSP00000272716:E106K	E	+	1	0	SLC4A10	162404583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.670000	0.98625	2.646000	0.89796	0.650000	0.86243	GAG		0.453	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
SLC4A10	57282	broad.mit.edu	37	2	162760617	162760617	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162760617C>A	ENST00000446997.1	+	13	1639	c.1546C>A	c.(1546-1548)Ctc>Atc	p.L516I	SLC4A10_ENST00000375514.5_Missense_Mutation_p.L497I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L486I|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L516I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L486I	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	516					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L486I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTTTCTATTTCTCTACTGCGC	0.423																																					p.L497I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1489A	2						.						75.0	70.0	71.0					2																	162760617		1882	4154	6036	162468863	SO:0001583	missense	57282	exon13				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1546C>A	2.37:g.162760617C>A	ENSP00000393066:p.Leu516Ile		162468863	NM_001178016	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251416	0.59212	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	L	0.45137	1.4	0.80722	D	1	D;D;P	0.63046	0.992;0.992;0.522	D;D;B	0.66716	0.946;0.946;0.433	T	0.74337	-0.3698	10	0.02654	T	1	.	19.7176	0.96129	0.0:1.0:0.0:0.0	.	497;486;516	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	I	497;486;486;485;516;516;515	ENSP00000364664:L497I;ENSP00000395797:L486I;ENSP00000272716:L486I;ENSP00000393066:L516I;ENSP00000404486:L516I	ENSP00000272716:L486I	L	+	1	0	SLC4A10	162468863	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.670000	0.90874	0.563000	0.77884	CTC		0.423	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
SLC4A10	57282	broad.mit.edu	37	2	162820806	162820806	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:162820806C>A	ENST00000446997.1	+	22	3117	c.3024C>A	c.(3022-3024)gtC>gtA	p.V1008V	SLC4A10_ENST00000375514.5_Silent_p.V989V|SLC4A10_ENST00000272716.5_Silent_p.V978V|SLC4A10_ENST00000421911.1_Silent_p.V1008V|SLC4A10_ENST00000415876.2_Silent_p.V978V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1008				V -> A (in Ref. 3; BAH11596). {ECO:0000305}.	bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.V978V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTGCTATTGTCTTTCCCATGA	0.378																																					p.V989V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2967A	2						.						103.0	93.0	96.0					2																	162820806		1845	4093	5938	162529052	SO:0001819	synonymous_variant	57282	exon22				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3024C>A	2.37:g.162820806C>A			162529052	NM_001178016	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	CCDS54411.1																																																																																				0.378	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
FAP	2191	broad.mit.edu	37	2	163029724	163029724	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163029724G>T	ENST00000188790.4	-	24	2249	c.2042C>A	c.(2041-2043)aCt>aAt	p.T681N	FAP_ENST00000443424.1_Missense_Mutation_p.T656N|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.T681N(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						TGCCATCACAGTTGAATTCTG	0.348																																					p.T681N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2042A	2						.						100.0	99.0	99.0					2																	163029724		2203	4300	6503	162737970	SO:0001583	missense	2191	exon24			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.2042C>A	2.37:g.163029724G>T	ENSP00000188790:p.Thr681Asn		162737970	NM_004460		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745037	0.69418	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.39997	1.05;1.05	5.62	5.62	0.85841	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.047437	0.85682	D	0.000000	T	0.49167	0.1541	N	0.16656	0.425	0.80722	D	1	B;B;D	0.54772	0.41;0.168;0.968	B;B;D	0.63283	0.241;0.234;0.913	T	0.47497	-0.9113	10	0.42905	T	0.14	-24.1704	20.024	0.97514	0.0:0.0:1.0:0.0	.	656;160;681	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	N	681;656	ENSP00000188790:T681N;ENSP00000411391:T656N	ENSP00000188790:T681N	T	-	2	0	FAP	162737970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.809000	0.96659	0.655000	0.94253	ACT		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163279902G>T	ENST00000332142.5	-	9	2197	c.2098C>A	c.(2098-2100)Ctt>Att	p.L700I	KCNH7_ENST00000328032.4_Missense_Mutation_p.L693I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	700					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L700I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATTCTTCAAGACGTTGCCTC	0.453																																					p.L693I	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2077A	2						.						253.0	235.0	242.0					2																	163279902		2203	4300	6503	162988148	SO:0001583	missense	90134	exon8			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2098C>A	2.37:g.163279902G>T	ENSP00000331727:p.Leu700Ile		162988148	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168623	0.94768	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96041	-3.89;-3.89	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.85130	0.997;0.841	D	0.96595	0.9440	10	0.48119	T	0.1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	693;700	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	700;693	ENSP00000331727:L700I;ENSP00000333781:L693I	ENSP00000333781:L693I	L	-	1	0	KCNH7	162988148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.729000	0.74775	2.824000	0.97209	0.655000	0.94253	CTT		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
KCNH7	90134	broad.mit.edu	37	2	163291772	163291772	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163291772G>A	ENST00000332142.5	-	8	1989	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	KCNH7_ENST00000328032.4_Silent_p.F623F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	630					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F630F(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACACATTCCCGAATCCTACAC	0.383																																					p.F623F	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	2						.						170.0	156.0	161.0					2																	163291772		2203	4300	6503	163000018	SO:0001819	synonymous_variant	90134	exon7			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1890C>T	2.37:g.163291772G>A			163000018	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PXDN	7837	broad.mit.edu	37	2	1651996	1651997	+	Missense_Mutation	DNP	CG	CG	TA	rs199680670		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1651996_1651997CG>TA	ENST00000252804.4	-	17	3605_3606	c.3555_3556CG>TA	c.(3553-3558)ttCGag>ttTAag	p.E1186K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1186					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F1185>?(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCAGGTCCTCGAACGTGTGTG	0.569																																					.												.	.	1	Complex(1)	large_intestine(1)	c.3555_3556TA	2						.																																			1631004	SO:0001583	missense	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3555_3556delinsTA	2.37:g.1651996_1651997delinsTA	ENSP00000252804:p.Glu1186Lys		1631003	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	DNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.569	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
PXDN	7837	broad.mit.edu	37	2	1653138	1653138	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1653138G>A	ENST00000252804.4	-	17	2464	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	805					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T805M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACGGTCTCCGTCCCGATCAG	0.652																																					p.T805M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2414T	2						.						63.0	73.0	69.0					2																	1653138		2159	4253	6412	1632145	SO:0001583	missense	7837	exon17			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2414C>T	2.37:g.1653138G>A	ENSP00000252804:p.Thr805Met		1632145	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915582	0.52546	.	.	ENSG00000130508	ENST00000252804	T	0.69435	-0.4	5.33	5.33	0.75918	.	0.110977	0.64402	D	0.000010	D	0.84257	0.5432	M	0.87328	2.875	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	D	0.86779	0.1978	10	0.87932	D	0	-18.5012	19.4361	0.94796	0.0:0.0:1.0:0.0	.	805	Q92626	PXDN_HUMAN	M	805	ENSP00000252804:T805M	ENSP00000252804:T805M	T	-	2	0	PXDN	1632145	1.000000	0.71417	0.008000	0.14137	0.101000	0.19017	9.717000	0.98755	2.661000	0.90470	0.558000	0.71614	ACG		0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
KCNH7	90134	broad.mit.edu	37	2	163292002	163292002	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163292002G>T	ENST00000332142.5	-	8	1759	c.1660C>A	c.(1660-1662)Ctc>Atc	p.L554I	KCNH7_ENST00000328032.4_Missense_Mutation_p.L547I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	554					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L554I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CACATTAAGAGCATTAGAACA	0.473																																					p.L547I	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1639A	2						.						90.0	85.0	87.0					2																	163292002		2203	4300	6503	163000248	SO:0001583	missense	90134	exon7			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1660C>A	2.37:g.163292002G>T	ENSP00000331727:p.Leu554Ile		163000248	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955747	0.92726	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98474	-4.95;-4.95	5.9	5.9	0.94986	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.66506	2.035	0.80722	D	1	D;P	0.89917	1.0;0.933	D;P	0.91635	0.999;0.718	D	0.99063	1.0831	10	0.87932	D	0	.	14.4259	0.67215	0.0698:0.0:0.9302:0.0	.	547;554	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	554;547	ENSP00000331727:L554I;ENSP00000333781:L547I	ENSP00000333781:L547I	L	-	1	0	KCNH7	163000248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	2.788000	0.95919	0.650000	0.86243	CTC		0.473	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
KCNH7	90134	broad.mit.edu	37	2	163693250	163693250	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163693250C>A	ENST00000332142.5	-	2	203	c.104G>T	c.(103-105)aGa>aTa	p.R35I	KCNH7_ENST00000328032.4_Missense_Mutation_p.R35I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	35					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R35I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GTTCTGCACTCTGGCATTTGC	0.403																																					p.R35I	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G104T	2						.						63.0	57.0	59.0					2																	163693250		2203	4300	6503	163401496	SO:0001583	missense	90134	exon2			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.104G>T	2.37:g.163693250C>A	ENSP00000331727:p.Arg35Ile		163401496	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172520	0.94807	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99619	-5.13;-6.28	6.08	6.08	0.98989	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	M	0.83774	2.66	0.80722	D	1	P;P	0.52842	0.956;0.956	P;D	0.67231	0.79;0.95	D	0.98378	1.0557	10	0.87932	D	0	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	35;35	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	I	35	ENSP00000331727:R35I;ENSP00000333781:R35I	ENSP00000333781:R35I	R	-	2	0	KCNH7	163401496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	AGA		0.403	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
PXDN	7837	broad.mit.edu	37	2	1657475	1657475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1657475C>A	ENST00000252804.4	-	16	2079	c.2029G>T	c.(2029-2031)Gaa>Taa	p.E677*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	677					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E677*(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAAAGATTTCTCCCGCCCGT	0.512																																					p.E677X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2029T	2						.						73.0	76.0	75.0					2																	1657475		2018	4179	6197	1636482	SO:0001587	stop_gained	7837	exon16			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2029G>T	2.37:g.1657475C>A	ENSP00000252804:p.Glu677*		1636482	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Nonsense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.765651|6.765651	0.97821|0.97821	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|.	.|.	.|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.77432|.	0.4129|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80264|.	-0.1455|.	4|.	.|0.66056	.|D	.|0.02	-41.5373|-41.5373	18.6167|18.6167	0.91305|0.91305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	672|677	.|.	.|ENSP00000252804:E677X	E|E	-|-	3|1	2|0	PXDN|PXDN	1636482|1636482	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.215000|0.215000	0.24574|0.24574	7.644000|7.644000	0.83416|0.83416	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAG|GAA		0.512	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
KCNH7	90134	broad.mit.edu	37	2	163694963	163694963	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:163694963A>C	ENST00000332142.5	-	1	165	c.66T>G	c.(64-66)ttT>ttG	p.F22L	KCNH7_ENST00000328032.4_Missense_Mutation_p.F22L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	22					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F22L(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTGCCCTTCAAATTTCCGAA	0.567																																					p.F22L	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T66G	2						.						160.0	136.0	144.0					2																	163694963		2203	4300	6503	163403209	SO:0001583	missense	90134	exon1			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.66T>G	2.37:g.163694963A>C	ENSP00000331727:p.Phe22Leu		163403209	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636460	0.47049	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99598	-5.14;-6.26	5.44	4.3	0.51218	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	M	0.77406	2.37	0.42035	D	0.991045	D;B	0.64830	0.994;0.002	D;B	0.71870	0.975;0.011	D	0.98576	1.0648	10	0.72032	D	0.01	.	10.0117	0.41990	0.9209:0.0:0.0791:0.0	.	22;22	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	L	22	ENSP00000331727:F22L;ENSP00000333781:F22L	ENSP00000333781:F22L	F	-	3	2	KCNH7	163403209	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.037000	0.41174	2.062000	0.61559	0.377000	0.23210	TTT		0.567	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
GRB14	2888	broad.mit.edu	37	2	165353991	165353991	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165353991A>G	ENST00000263915.3	-	10	1652	c.1114T>C	c.(1114-1116)Tca>Cca	p.S372P	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.S285P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	372					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.S372P(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GAATTCTCTGATATACTTCTC	0.353																																					p.S372P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1114C	2						.						70.0	70.0	70.0					2																	165353991		2203	4300	6503	165062237	SO:0001583	missense	2888	exon10				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1114T>C	2.37:g.165353991A>G	ENSP00000263915:p.Ser372Pro		165062237	NM_004490	B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691297	0.88735	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.41400	1.51;1.6;1.0	5.71	5.71	0.89125	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.66587	0.2804	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71130	-0.4682	10	0.87932	D	0	-8.5627	15.9883	0.80179	1.0:0.0:0.0:0.0	.	285;372	B7Z7F9;Q14449	.;GRB14_HUMAN	P	372;285;327	ENSP00000263915:S372P;ENSP00000443699:S285P;ENSP00000416786:S327P	ENSP00000263915:S372P	S	-	1	0	GRB14	165062237	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.313000	0.96297	2.172000	0.68678	0.533000	0.62120	TCA		0.353	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
GRB14	2888	broad.mit.edu	37	2	165383583	165383583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165383583C>A	ENST00000263915.3	-	4	1082	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	GRB14_ENST00000543549.1_Nonsense_Mutation_p.E95*	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	182	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.E182*(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGTTTGTTTTCTTCTTCTATC	0.328																																					p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	2						.						104.0	103.0	104.0					2																	165383583		2202	4295	6497	165091829	SO:0001587	stop_gained	2888	exon4				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.544G>T	2.37:g.165383583C>A	ENSP00000263915:p.Glu182*		165091829	NM_004490	B7Z7F9|Q7Z6I1	Nonsense_Mutation	SNP	ENST00000263915.3	37	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	37	6.635167	0.97722	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	.	.	.	5.84	5.84	0.93424	.	0.242338	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-9.6295	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	182;95;137;124	.	ENSP00000263915:E182X	E	-	1	0	GRB14	165091829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.640000	0.83355	2.764000	0.94973	0.655000	0.94253	GAA		0.328	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2		
COBLL1	22837	broad.mit.edu	37	2	165551820	165551820	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165551820T>G	ENST00000392717.2	-	13	2314	c.2310A>C	c.(2308-2310)aaA>aaC	p.K770N	COBLL1_ENST00000375458.2_Missense_Mutation_p.K694N|COBLL1_ENST00000409184.3_Missense_Mutation_p.K732N|COBLL1_ENST00000342193.4_Missense_Mutation_p.K732N|COBLL1_ENST00000194871.6_Missense_Mutation_p.K799N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	770						extracellular vesicular exosome (GO:0070062)		p.K732N(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGTGGAATTTTTGTCAATCC	0.378																																					p.K732N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2196C	2						.						160.0	160.0	160.0					2																	165551820		2203	4300	6503	165260066	SO:0001583	missense	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2310A>C	2.37:g.165551820T>G	ENSP00000376478:p.Lys770Asn		165260066	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	14.77	2.635279	0.47049	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	3.66	0.41972	.	0.072732	0.64402	D	0.000018	T	0.68504	0.3008	L	0.58101	1.795	0.37042	D	0.897206	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76575	0.988;0.988;0.974	T	0.71715	-0.4509	9	0.72032	D	0.01	-12.774	8.414	0.32659	0.0:0.0686:0.1328:0.7986	.	770;799;732	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	694;732;732;770;799	.	ENSP00000194871:K799N	K	-	3	2	COBLL1	165260066	0.997000	0.39634	0.766000	0.31476	0.291000	0.27294	1.827000	0.39102	0.519000	0.28406	0.455000	0.32223	AAA		0.378	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
COBLL1	22837	broad.mit.edu	37	2	165552275	165552275	+	Nonsense_Mutation	SNP	C	C	A	rs554340557	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165552275C>A	ENST00000392717.2	-	13	1859	c.1855G>T	c.(1855-1857)Gaa>Taa	p.E619*	COBLL1_ENST00000375458.2_Nonsense_Mutation_p.E543*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E581*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E581*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E648*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	619						extracellular vesicular exosome (GO:0070062)		p.E581*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACATTGATTTCTGTTTTCTTC	0.318																																					p.E581X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1741T	2						.						148.0	135.0	139.0					2																	165552275		2203	4300	6503	165260521	SO:0001587	stop_gained	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1855G>T	2.37:g.165552275C>A	ENSP00000376478:p.Glu619*		165260521	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.781320	0.96929	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.43	5.43	0.79202	.	0.393509	0.25912	N	0.027498	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-9.6741	18.2479	0.89993	0.0:1.0:0.0:0.0	.	.	.	.	X	543;581;581;619;648	.	ENSP00000194871:E648X	E	-	1	0	COBLL1	165260521	0.984000	0.35163	0.968000	0.41197	0.042000	0.13812	1.091000	0.30915	2.558000	0.86282	0.655000	0.94253	GAA		0.318	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SLC38A11	151258	broad.mit.edu	37	2	165772438	165772438	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165772438A>G	ENST00000409149.3	-	7	786	c.495T>C	c.(493-495)atT>atC	p.I165I	SLC38A11_ENST00000409058.1_Silent_p.I196I|SLC38A11_ENST00000409662.1_Silent_p.I165I|SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000303735.4_Silent_p.I143I	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	165					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.I143I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CGACCGCTTGAATGGCATTGG	0.373																																					p.I143I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T429C	2						.						208.0	224.0	218.0					2																	165772438		2203	4300	6503	165480684	SO:0001819	synonymous_variant	151258	exon6				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.495T>C	2.37:g.165772438A>G			165480684	NM_173512	B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	CCDS56142.1																																																																																				0.373	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	
SCN3A	6328	broad.mit.edu	37	2	165969469	165969469	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165969469G>T	ENST00000360093.3	-	21	4260	c.3769C>A	c.(3769-3771)Ctc>Atc	p.L1257I	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1257I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1208I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1257					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1257I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCCATTTGAGAAGCATTTCC	0.333																																					p.L1257I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3769A	2						.						189.0	208.0	202.0					2																	165969469		2203	4296	6499	165677715	SO:0001583	missense	6328	exon21			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3769C>A	2.37:g.165969469G>T	ENSP00000353206:p.Leu1257Ile		165677715	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	G	20.6	4.017173	0.75161	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	5.88	5.88	0.94601	Ion transport (1);	0.000000	0.52532	D	0.000076	D	0.98425	0.9476	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	0.99;0.997;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.945;0.992;0.99;0.99;0.999	D	0.97774	1.0228	10	0.36615	T	0.2	.	13.8521	0.63504	0.0783:0.0:0.9217:0.0	.	1257;1208;1208;1208;1257	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1257;1257;1208;1208	ENSP00000353206:L1257I;ENSP00000283254:L1257I;ENSP00000386726:L1208I;ENSP00000403348:L1208I	ENSP00000283254:L1257I	L	-	1	0	SCN3A	165677715	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.467000	0.60155	2.789000	0.95967	0.591000	0.81541	CTC		0.333	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN3A	6328	broad.mit.edu	37	2	165994619	165994619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:165994619C>A	ENST00000360093.3	-	15	2652	c.2161G>T	c.(2161-2163)Gaa>Taa	p.E721*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.E721*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.E672*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	721					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E721*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCTAGATTCTTCAAGTTCT	0.343																																					p.E721X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2161T	2						.						67.0	68.0	68.0					2																	165994619		2203	4299	6502	165702865	SO:0001587	stop_gained	6328	exon15			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2161G>T	2.37:g.165994619C>A	ENSP00000353206:p.Glu721*		165702865	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	45	11.730589	0.99596	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	.	.	.	X	721;721;672;672	.	ENSP00000283254:E721X	E	-	1	0	SCN3A	165702865	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAA		0.343	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN2A	6326	broad.mit.edu	37	2	166165920	166165920	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166165920C>T	ENST00000375437.2	+	6	954	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	SCN2A_ENST00000283256.6_Missense_Mutation_p.L222F|SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000357398.3_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	222					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L222F(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCAGAGTTCTCCGAGCATT	0.448																																					p.L222F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664T	2						.						104.0	93.0	97.0					2																	166165920		2203	4299	6502	165874166	SO:0001583	missense	6326	exon6			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.664C>T	2.37:g.166165920C>T	ENSP00000364586:p.Leu222Phe		165874166	NM_021007	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552756	0.65425	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000283256	D;D;D	0.99042	-5.36;-5.36;-5.36	5.58	5.58	0.84498	Ion transport (1);	.	.	.	.	D	0.99396	0.9787	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	9	0.87932	D	0	.	18.1063	0.89521	0.0:1.0:0.0:0.0	.	222	Q99250	SCN2A_HUMAN	F	222	ENSP00000406454:L222F;ENSP00000364586:L222F;ENSP00000283256:L222F	ENSP00000283256:L222F	L	+	1	0	SCN2A	165874166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.052000	0.71080	2.789000	0.95967	0.655000	0.94253	CTC		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166201227	166201227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166201227G>T	ENST00000375437.2	+	16	3015	c.2725G>T	c.(2725-2727)Gaa>Taa	p.E909*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.E909*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.E909*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.E909*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	909					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E909*(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGCTACAAAGAATGTGTCTG	0.488																																					p.E909X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2725T	2						.						192.0	178.0	183.0					2																	166201227		2203	4300	6503	165909473	SO:0001587	stop_gained	6326	exon15			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2725G>T	2.37:g.166201227G>T	ENSP00000364586:p.Glu909*		165909473	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	42	9.415077	0.99164	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	.	.	.	X	909	.	ENSP00000283256:E909X	E	+	1	0	SCN2A	165909473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.779000	0.85648	2.714000	0.92807	0.650000	0.86243	GAA		0.488	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166210777	166210777	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166210777G>A	ENST00000375437.2	+	17	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E999K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	999			E -> K (in EIEE11; the disease progresses to West syndrome). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E999K(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGATAACGAAATGAATAA	0.388																																					p.E999K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2995A	2						.						161.0	166.0	165.0					2																	166210777		2203	4300	6503	165919023	SO:0001583	missense	6326	exon16			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2995G>A	2.37:g.166210777G>A	ENSP00000364586:p.Glu999Lys		165919023	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294606	0.95546	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.69	5.69	0.88448	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.95294	0.8473	M	0.91920	3.255	0.80722	D	1	D;D	0.55800	0.971;0.973	P;P	0.59012	0.567;0.85	D	0.95786	0.8821	10	0.87932	D	0	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	999;999	Q99250-2;Q99250	.;SCN2A_HUMAN	K	999	ENSP00000364586:E999K;ENSP00000349973:E999K;ENSP00000283256:E999K;ENSP00000364576:E999K	ENSP00000283256:E999K	E	+	1	0	SCN2A	165919023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.658000	0.90341	0.655000	0.94253	GAA		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166211175	166211175	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166211175C>T	ENST00000375437.2	+	17	3683	c.3393C>T	c.(3391-3393)agC>agT	p.S1131S	SCN2A_ENST00000283256.6_Silent_p.S1131S|SCN2A_ENST00000375427.2_Silent_p.S1131S|SCN2A_ENST00000357398.3_Silent_p.S1131S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1131					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1131S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGAGGAAAGCAAAGAGGTAA	0.338																																					p.S1131S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3393T	2						.						45.0	46.0	46.0					2																	166211175		2197	4299	6496	165919421	SO:0001819	synonymous_variant	6326	exon16			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3393C>T	2.37:g.166211175C>T			165919421	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	CCDS33314.1																																																																																				0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN2A	6326	broad.mit.edu	37	2	166245139	166245139	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166245139G>A	ENST00000375437.2	+	27	5113	c.4823G>A	c.(4822-4824)gGa>gAa	p.G1608E	SCN2A_ENST00000283256.6_Splice_Site_p.G1608E|SCN2A_ENST00000375427.2_Splice_Site_p.G1608E|SCN2A_ENST00000357398.3_Splice_Site_p.G1608E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1608					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1608E(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTCTACAGGAATGTTTCTG	0.358																																					p.G1608E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4823A	2						.						62.0	64.0	63.0					2																	166245139		2203	4300	6503	165953385	SO:0001630	splice_region_variant	6326	exon26			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4823-1G>A	2.37:g.166245139G>A			165953385	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666617	0.47677	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98635	0.9543	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	D	0.98683	1.0693	9	.	.	.	.	20.039	0.97573	0.0:0.0:1.0:0.0	.	1608;1608	Q99250-2;Q99250	.;SCN2A_HUMAN	E	1608	ENSP00000364586:G1608E;ENSP00000349973:G1608E;ENSP00000283256:G1608E;ENSP00000364576:G1608E	.	G	+	2	0	SCN2A	165953385	1.000000	0.71417	0.944000	0.38274	0.534000	0.34807	9.842000	0.99487	2.808000	0.96608	0.552000	0.68991	GGA		0.358	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	Missense_Mutation
SCN2A	6326	broad.mit.edu	37	2	166245220	166245220	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166245220G>A	ENST00000375437.2	+	27	5194	c.4904G>A	c.(4903-4905)cGa>cAa	p.R1635Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1635Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1635Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1635Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1635					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1635Q(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGATTGGCCGAATCCTACGT	0.468																																					p.R1635Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4904A	2						.						110.0	110.0	110.0					2																	166245220		2203	4297	6500	165953466	SO:0001583	missense	6326	exon26			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4904G>A	2.37:g.166245220G>A	ENSP00000364586:p.Arg1635Gln		165953466	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652866	0.67472	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.49	5.49	0.81192	Ion transport (1);	0.085395	0.47093	D	0.000260	D	0.99792	0.9912	H	0.98388	4.22	0.80722	D	1	D;B	0.63880	0.993;0.332	P;B	0.59487	0.858;0.106	D	0.97143	0.9826	10	0.87932	D	0	.	19.8035	0.96518	0.0:0.0:1.0:0.0	.	1635;1635	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1635	ENSP00000364586:R1635Q;ENSP00000349973:R1635Q;ENSP00000283256:R1635Q;ENSP00000364576:R1635Q	ENSP00000283256:R1635Q	R	+	2	0	SCN2A	165953466	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.844000	0.99494	2.751000	0.94390	0.552000	0.68991	CGA		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
CSRNP3	80034	broad.mit.edu	37	2	166535777	166535777	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166535777G>T	ENST00000342316.4	+	5	1544	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	CSRNP3_ENST00000409420.1_Missense_Mutation_p.K456N|CSRNP3_ENST00000314499.7_Missense_Mutation_p.K424N	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	424					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K424N(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCCATGCAAAGAATGCTTCTT	0.443																																					p.K424N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1272T	2						.						135.0	136.0	135.0					2																	166535777		2203	4300	6503	166244023	SO:0001583	missense	80034	exon7			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1272G>T	2.37:g.166535777G>T	ENSP00000344042:p.Lys424Asn		166244023	NM_001172173	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	9.294	1.051373	0.19827	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.79	1.89	0.25635	.	0.100864	0.64402	D	0.000001	T	0.26882	0.0658	N	0.19112	0.55	0.36785	D	0.88454	B	0.27229	0.172	B	0.20955	0.032	T	0.14035	-1.0487	10	0.18710	T	0.47	-27.032	9.2263	0.37410	0.6902:0.0:0.3098:0.0	.	424	Q8WYN3	CSRN3_HUMAN	N	424;431;424;424;456	ENSP00000412081:K424N;ENSP00000318258:K424N;ENSP00000344042:K424N;ENSP00000387195:K456N	ENSP00000318258:K424N	K	+	3	2	CSRNP3	166244023	0.995000	0.38212	0.467000	0.27180	0.950000	0.60333	0.569000	0.23638	0.071000	0.16664	-0.345000	0.07892	AAG		0.443	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
TTC21B	79809	broad.mit.edu	37	2	166740370	166740370	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166740370A>C	ENST00000243344.7	-	26	3755	c.3618T>G	c.(3616-3618)atT>atG	p.I1206M	TTC21B_ENST00000536175.1_Missense_Mutation_p.I144M	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1206					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.I1206M(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATTGAATGTAAATATCAGCAA	0.393																																					p.I1206M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3618G	2						.						135.0	134.0	135.0					2																	166740370		2203	4300	6503	166448616	SO:0001583	missense	79809	exon26			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3618T>G	2.37:g.166740370A>C	ENSP00000243344:p.Ile1206Met		166448616	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425495	0.62733	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.39592	1.07;1.07	5.48	4.24	0.50183	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.74467	2.265	0.58432	D	0.999996	P	0.46277	0.875	P	0.45428	0.48	T	0.55438	-0.8141	10	0.72032	D	0.01	-24.5206	11.0613	0.47948	0.7939:0.0:0.0:0.2061	.	1206	Q7Z4L5	TT21B_HUMAN	M	144;1206	ENSP00000438692:I144M;ENSP00000243344:I1206M	ENSP00000243344:I1206M	I	-	3	3	TTC21B	166448616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.465000	0.35299	2.202000	0.70862	0.477000	0.44152	ATT		0.393	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
SCN1A	6323	broad.mit.edu	37	2	166892609	166892609	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166892609A>T	ENST00000303395.4	-	16	3377	c.3378T>A	c.(3376-3378)aaT>aaA	p.N1126K	SCN1A_ENST00000409050.1_Missense_Mutation_p.N1098K|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1115K|SCN1A_ENST00000423058.2_Missense_Mutation_p.N1126K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1126					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.N1115K(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGTGTTTAAATTTTCAAAGT	0.338																																					p.N1098K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3294A	2						.						159.0	161.0	161.0					2																	166892609		2203	4300	6503	166600855	SO:0001583	missense	6323	exon16			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3378T>A	2.37:g.166892609A>T	ENSP00000303540:p.Asn1126Lys		166600855	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.449846	0.43531	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.44	1.63	0.23807	Sodium ion transport-associated (1);	0.000000	0.85682	D	0.000000	D	0.88250	0.6386	M	0.90759	3.145	0.42832	D	0.994025	B;P;P	0.47841	0.181;0.901;0.8	B;P;P	0.48571	0.125;0.582;0.561	D	0.85460	0.1166	10	0.42905	T	0.14	.	8.8173	0.35004	0.7641:0.0:0.2359:0.0	.	1115;1098;1126	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	1126;1126;1115;1098	ENSP00000407030:N1126K;ENSP00000303540:N1126K;ENSP00000364554:N1115K;ENSP00000386312:N1098K	ENSP00000303540:N1126K	N	-	3	2	SCN1A	166600855	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.521000	0.22893	0.093000	0.17368	-0.408000	0.06270	AAT		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166897865	166897865	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166897865A>G	ENST00000303395.4	-	13	2290	c.2291T>C	c.(2290-2292)gTt>gCt	p.V764A	SCN1A_ENST00000409050.1_Missense_Mutation_p.V736A|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V753A|SCN1A_ENST00000423058.2_Missense_Mutation_p.V764A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	764					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.V753A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCATCACAACCAGGTTGAC	0.408																																					p.V736A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2207C	2						.						116.0	112.0	114.0					2																	166897865		2203	4300	6503	166606111	SO:0001583	missense	6323	exon13			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2291T>C	2.37:g.166897865A>G	ENSP00000303540:p.Val764Ala		166606111	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379188	0.61735	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96685	-4.09;-4.09;-4.05;-4.01	5.54	5.54	0.83059	.	0.216367	0.32785	N	0.005657	D	0.95996	0.8696	M	0.80332	2.49	0.47862	D	0.999533	B;B;B	0.21606	0.058;0.034;0.017	B;B;B	0.21917	0.037;0.016;0.009	D	0.94405	0.7626	10	0.87932	D	0	.	15.9597	0.79918	1.0:0.0:0.0:0.0	.	753;736;764	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	764;764;753;736	ENSP00000407030:V764A;ENSP00000303540:V764A;ENSP00000364554:V753A;ENSP00000386312:V736A	ENSP00000303540:V764A	V	-	2	0	SCN1A	166606111	0.999000	0.42202	0.982000	0.44146	0.860000	0.49131	9.284000	0.95882	2.226000	0.72624	0.482000	0.46254	GTT		0.408	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166898859	166898859	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166898859G>T	ENST00000303395.4	-	12	2118	c.2119C>A	c.(2119-2121)Cct>Act	p.P707T	SCN1A_ENST00000409050.1_Missense_Mutation_p.P679T|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P696T|SCN1A_ENST00000423058.2_Missense_Mutation_p.P707T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	707					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.P696T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTTGGGAAGGATCTTCTAGA	0.358																																					p.P679T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2035A	2	GRCh37	CI065852	SCN1A	I		.						154.0	146.0	149.0					2																	166898859		2203	4300	6503	166607105	SO:0001583	missense	6323	exon12			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2119C>A	2.37:g.166898859G>T	ENSP00000303540:p.Pro707Thr		166607105	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313250	0.60414	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.82	5.82	0.92795	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000003	D	0.91713	0.7380	M	0.65677	2.01	0.53688	D	0.999976	B;B;B	0.29766	0.06;0.186;0.256	B;B;B	0.37091	0.046;0.077;0.241	D	0.89507	0.3768	10	0.51188	T	0.08	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	696;679;707	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	707;707;696;679	ENSP00000407030:P707T;ENSP00000303540:P707T;ENSP00000364554:P696T;ENSP00000386312:P679T	ENSP00000303540:P707T	P	-	1	0	SCN1A	166607105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.086000	0.76885	2.745000	0.94114	0.655000	0.94253	CCT		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166901651	166901651	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166901651T>G	ENST00000303395.4	-	10	1563	c.1564A>C	c.(1564-1566)Aaa>Caa	p.K522Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.K522Q|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K522Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.K522Q|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	522					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.K522Q(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATTCAGATTTTTGGAATTCA	0.443																																					p.K522Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1564C	2						.						241.0	239.0	240.0					2																	166901651		2203	4300	6503	166609897	SO:0001583	missense	6323	exon10			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1564A>C	2.37:g.166901651T>G	ENSP00000303540:p.Lys522Gln		166609897	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059555	0.76074	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	6.17	6.17	0.99709	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.91429	0.7295	M	0.70595	2.14	0.46113	D	0.99887	B;B;B	0.31769	0.013;0.002;0.339	B;B;B	0.29353	0.018;0.024;0.101	D	0.90365	0.4376	10	0.62326	D	0.03	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	522;522;522	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	522	ENSP00000407030:K522Q;ENSP00000303540:K522Q;ENSP00000364554:K522Q;ENSP00000386312:K522Q	ENSP00000303540:K522Q	K	-	1	0	SCN1A	166609897	1.000000	0.71417	0.943000	0.38184	0.988000	0.76386	4.832000	0.62759	2.371000	0.80710	0.533000	0.62120	AAA		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166915079	166915079	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:166915079T>C	ENST00000303395.4	-	2	383		c.e2+1		SCN1A_ENST00000409050.1_Splice_Site|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site_p.S128S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.?(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAAAGGATATGAATGTACCA	0.338																																					p.S128S												.	.	1	Unknown(1)	large_intestine(1)	c.A384G	2						.						57.0	60.0	59.0					2																	166915079		2203	4299	6502	166623325	SO:0001630	splice_region_variant	6323	exon2			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.383+1A>G	2.37:g.166915079T>C			166623325	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.372854	0.82573	.	.	ENSG00000144285	ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7387	0.69437	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166623325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.773000	0.85462	2.130000	0.65690	0.482000	0.46254	.		0.338	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Intron
SCN9A	6335	broad.mit.edu	37	2	167055217	167055217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167055217C>A	ENST00000409435.1	-	26	5931	c.5932G>T	c.(5932-5934)Gac>Tac	p.D1978Y	SCN9A_ENST00000375387.4_Missense_Mutation_p.D1979Y|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1979Y|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1967Y|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1978					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.D1967Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCCTTTGTCTTCCTTTTCT	0.348																																					p.D1967Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5899T	2						.						108.0	100.0	102.0					2																	167055217		1906	4127	6033	166763463	SO:0001583	missense	6335	exon27			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5932G>T	2.37:g.167055217C>A	ENSP00000386330:p.Asp1978Tyr		166763463	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533645	0.27387	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96232	-3.93;-3.95;-3.95;-3.95	5.86	4.04	0.47022	.	0.090341	0.48286	D	0.000194	D	0.95664	0.8590	M	0.75447	2.3	0.42855	D	0.994095	B	0.24092	0.097	B	0.26693	0.072	D	0.93216	0.6604	10	0.59425	D	0.04	.	16.3649	0.83317	0.0:0.7509:0.2491:0.0	.	1967	E7EUN6	.	Y	1967;1979;1979;1978	ENSP00000386306:D1967Y;ENSP00000364536:D1979Y;ENSP00000304748:D1979Y;ENSP00000386330:D1978Y	ENSP00000304748:D1979Y	D	-	1	0	SCN9A	166763463	0.999000	0.42202	1.000000	0.80357	0.952000	0.60782	0.776000	0.26704	0.800000	0.34041	0.591000	0.81541	GAC		0.348	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167060500	167060500	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167060500A>C	ENST00000409435.1	-	25	4738	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	SCN9A_ENST00000375387.4_Missense_Mutation_p.I1581S|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1581S|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1569S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1580					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.I1569S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAATCAAAAATATTCCATCC	0.308																																					p.I1569S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4706G	2						.						50.0	48.0	49.0					2																	167060500		2091	4266	6357	166768746	SO:0001583	missense	6335	exon26			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4739T>G	2.37:g.167060500A>C	ENSP00000386330:p.Ile1580Ser		166768746	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032639	0.75504	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	4.47	4.47	0.54385	.	0.075143	0.53938	D	0.000048	D	0.99257	0.9741	M	0.92169	3.28	0.48288	D	0.999624	D	0.71674	0.998	D	0.79108	0.992	D	0.99023	1.0818	10	0.87932	D	0	.	14.0598	0.64793	1.0:0.0:0.0:0.0	.	1569	E7EUN6	.	S	1569;1581;1581;1580	ENSP00000386306:I1569S;ENSP00000364536:I1581S;ENSP00000304748:I1581S;ENSP00000386330:I1580S	ENSP00000304748:I1581S	I	-	2	0	SCN9A	166768746	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.247000	0.95444	1.794000	0.52575	0.374000	0.22700	ATT		0.308	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167133603	167133603	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167133603G>A	ENST00000409435.1	-	15	2763	c.2764C>T	c.(2764-2766)Cgc>Tgc	p.R922C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R923C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R923C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R911C|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R911C(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACAGCACGCGGAACACAATC	0.488																																					p.R911C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2731T	2						.						198.0	189.0	192.0					2																	167133603		2203	4297	6500	166841849	SO:0001583	missense	6335	exon16			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2764C>T	2.37:g.167133603G>A	ENSP00000386330:p.Arg922Cys		166841849	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827439	0.90955	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	D	0.99591	0.9852	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97715	1.0193	10	0.87932	D	0	.	20.096	0.97843	0.0:0.0:1.0:0.0	.	911	E7EUN6	.	C	911;923;923;922	ENSP00000386306:R911C;ENSP00000364536:R923C;ENSP00000304748:R923C;ENSP00000386330:R922C	ENSP00000304748:R923C	R	-	1	0	SCN9A	166841849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.518000	0.67068	2.819000	0.97034	0.650000	0.86243	CGC		0.488	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167141202	167141202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167141202C>A	ENST00000409435.1	-	11	1734	c.1735G>T	c.(1735-1737)Gga>Tga	p.G579*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.G580*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.G580*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.G579*|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	579					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.G579*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATTGTCTCCAAAAATGCTG	0.502																																					p.G579X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1735T	2						.						100.0	104.0	103.0					2																	167141202		2075	4230	6305	166849448	SO:0001587	stop_gained	6335	exon12			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1735G>T	2.37:g.167141202C>A	ENSP00000386330:p.Gly579*		166849448	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106978	0.97291	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.64	5.64	0.86602	.	0.094242	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0585	0.97663	0.0:1.0:0.0:0.0	.	.	.	.	X	579;580;580;579;444;444	.	ENSP00000304748:G580X	G	-	1	0	SCN9A	166849448	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.445000	0.80570	2.812000	0.96745	0.557000	0.71058	GGA		0.502	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167143018	167143018	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167143018C>A	ENST00000409435.1	-	10	1429	c.1430G>T	c.(1429-1431)aGa>aTa	p.R477I	SCN9A_ENST00000375387.4_Missense_Mutation_p.R478I|SCN9A_ENST00000303354.6_Missense_Mutation_p.R478I|SCN9A_ENST00000409672.1_Missense_Mutation_p.R477I|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	477					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R477I(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCTGTTTCTTCTTTCTTT	0.403																																					p.R477I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430T	2						.						56.0	52.0	53.0					2																	167143018		1817	4080	5897	166851264	SO:0001583	missense	6335	exon11			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1430G>T	2.37:g.167143018C>A	ENSP00000386330:p.Arg477Ile		166851264	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592994	0.86953	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.86	4.01	0.46588	Domain of unknown function DUF3451 (1);	0.174418	0.38778	N	0.001567	D	0.95277	0.8468	M	0.91561	3.22	0.80722	D	1	P;P;D	0.54964	0.784;0.566;0.969	P;P;P	0.54889	0.763;0.507;0.703	D	0.95536	0.8608	10	0.72032	D	0.01	.	11.1693	0.48563	0.1279:0.8056:0.0:0.0665	.	477;477;478	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	I	477;478;478;477;342;342	ENSP00000386306:R477I;ENSP00000364536:R478I;ENSP00000304748:R478I;ENSP00000386330:R477I;ENSP00000413212:R342I;ENSP00000393141:R342I	ENSP00000304748:R478I	R	-	2	0	SCN9A	166851264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.923000	0.63412	1.491000	0.48482	0.585000	0.79938	AGA		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167149858	167149858	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167149858A>G	ENST00000409435.1	-	8	989	c.990T>C	c.(988-990)tgT>tgC	p.C330C	SCN9A_ENST00000375387.4_Silent_p.C331C|SCN9A_ENST00000303354.6_Silent_p.C331C|SCN9A_ENST00000409672.1_Silent_p.C330C|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	330					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.C330C(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAATTTTCACACAGGTGTACC	0.443																																					p.C330C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T990C	2						.						57.0	59.0	58.0					2																	167149858		2004	4216	6220	166858104	SO:0001819	synonymous_variant	6335	exon9			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.990T>C	2.37:g.167149858A>G			166858104	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN7A	6332	broad.mit.edu	37	2	167262860	167262860	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167262860G>T	ENST00000409855.1	-	25	4405	c.4279C>A	c.(4279-4281)Ctt>Att	p.L1427I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1427I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACTTGAAAAAGACAGAGCATA	0.363																																					p.L1427I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4279A	2						.						183.0	176.0	178.0					2																	167262860		1896	4142	6038	166971106	SO:0001583	missense	6332	exon25			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4279C>A	2.37:g.167262860G>T	ENSP00000386796:p.Leu1427Ile		166971106	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246446	0.39697	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97598	-4.45	5.14	3.26	0.37387	Ion transport (1);	0.239589	0.29424	N	0.012194	D	0.96012	0.8701	M	0.87456	2.885	0.35030	D	0.758669	B	0.26120	0.142	B	0.26693	0.072	D	0.95516	0.8590	10	0.87932	D	0	.	6.0142	0.19592	0.0892:0.0:0.5238:0.387	.	1427	Q01118	SCN7A_HUMAN	I	1427	ENSP00000386796:L1427I	ENSP00000259060:L1427I	L	-	1	0	SCN7A	166971106	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.474000	0.60203	0.795000	0.33922	-0.282000	0.10007	CTT		0.363	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
SCN7A	6332	broad.mit.edu	37	2	167333982	167333982	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167333982C>A	ENST00000409855.1	-	2	351	c.225G>T	c.(223-225)aaG>aaT	p.K75N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	75					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K75N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATTTTTTTTCTTGTAGTAAT	0.308																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	2						.						20.0	17.0	18.0					2																	167333982		1763	3971	5734	167042228	SO:0001583	missense	6332	exon2			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.225G>T	2.37:g.167333982C>A	ENSP00000386796:p.Lys75Asn		167042228	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.727880	0.00694	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98090	-4.07;-4.1;-4.71	4.17	-0.184	0.13280	.	0.589164	0.14795	N	0.297997	D	0.91418	0.7292	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79748	-0.1673	10	0.02654	T	1	.	0.7587	0.01003	0.3787:0.2185:0.2223:0.1806	.	75	Q01118	SCN7A_HUMAN	N	75	ENSP00000386796:K75N;ENSP00000413699:K75N;ENSP00000403846:K75N	ENSP00000259060:K75N	K	-	3	2	SCN7A	167042228	0.006000	0.16342	0.235000	0.24058	0.861000	0.49209	0.015000	0.13355	-0.145000	0.11294	0.655000	0.94253	AAG		0.308	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	167760391	167760391	+	Silent	SNP	C	C	T	rs368478393		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:167760391C>T	ENST00000409728.1	+	2	488	c.399C>T	c.(397-399)taC>taT	p.Y133Y	XIRP2_ENST00000295237.9_Silent_p.Y133Y|XIRP2_ENST00000420519.1_Silent_p.Y133Y|XIRP2_ENST00000409195.1_Silent_p.Y133Y|XIRP2_ENST00000409043.1_Silent_p.Y133Y|XIRP2_ENST00000409756.2_Silent_p.Y133Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Y133Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCTGAGTACGGTGGAAAGG	0.478																																					p.Y133Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C399T	2						.	C	,,	0,3912		0,0,1956	108.0	109.0	109.0		399,399,399	-7.9	0.0	2		109	1,8329		0,1,4164	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,1,6120	TT,TC,CC		0.012,0.0,0.0082	,,	133/939,133/972,133/3550	167760391	1,12241	1956	4165	6121	167468637	SO:0001819	synonymous_variant	129446	exon2			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.399C>T	2.37:g.167760391C>T			167468637	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	CCDS56143.1																																																																																				0.478	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168096454	168096454	+	Missense_Mutation	SNP	T	T	G	rs547800851		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168096454T>G	ENST00000409728.1	+	7	1136	c.1047T>G	c.(1045-1047)atT>atG	p.I349M	XIRP2_ENST00000295237.9_Missense_Mutation_p.I316M|XIRP2_ENST00000420519.1_Missense_Mutation_p.I349M|XIRP2_ENST00000409605.1_Missense_Mutation_p.I94M|XIRP2_ENST00000409195.1_Missense_Mutation_p.I316M|XIRP2_ENST00000409756.2_Missense_Mutation_p.I316M|XIRP2_ENST00000409043.1_Missense_Mutation_p.I316M|XIRP2_ENST00000409273.1_Missense_Mutation_p.I94M	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	141					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I316M(1)|p.I349M(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACAGAAAATTGATGTTCATG	0.398													T|||	1	0.000199681	0.0	0.0	5008	,	,		15978	0.0		0.001	False		,,,				2504	0.0				p.I349M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1047G	2						.						92.0	92.0	92.0					2																	168096454		1869	4105	5974	167804700	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1047T>G	2.37:g.168096454T>G	ENSP00000386619:p.Ile349Met		167804700	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	8.471	0.857560	0.17106	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.77877	-1.12;-1.13;4.2;-1.12;-1.13;4.2;4.21;-1.1	5.9	2.21	0.28008	.	1.038600	0.07567	N	0.917926	T	0.67674	0.2918	L	0.48642	1.525	0.19775	N	0.999953	B;B;B;B;B	0.28820	0.029;0.184;0.224;0.065;0.065	B;B;B;B;B	0.24848	0.006;0.041;0.056;0.015;0.015	T	0.58306	-0.7659	10	0.59425	D	0.04	0.0724	2.0589	0.03587	0.1551:0.0858:0.192:0.5671	.	141;316;349;141;94	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	M	316;349;316;316;349;316;94;94	ENSP00000386454:I316M;ENSP00000386619:I349M;ENSP00000386840:I316M;ENSP00000386724:I316M;ENSP00000415541:I349M;ENSP00000295237:I316M;ENSP00000387255:I94M;ENSP00000386981:I94M	ENSP00000295237:I316M	I	+	3	3	XIRP2	167804700	0.015000	0.18098	0.619000	0.29118	0.073000	0.16967	-0.296000	0.08287	0.455000	0.26910	0.528000	0.53228	ATT		0.398	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168100268	168100268	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168100268T>G	ENST00000409195.1	+	9	2455	c.2366T>G	c.(2365-2367)aTt>aGt	p.I789S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I789S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I567S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	614					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I789S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCACAGAAATTAAAGTTGTC	0.403																																					p.I567S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1700G	2						.						69.0	66.0	67.0					2																	168100268		1853	4096	5949	167808514	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2366T>G	2.37:g.168100268T>G	ENSP00000386840:p.Ile789Ser		167808514	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410507	0.62399	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03496	3.91;3.91;3.91	5.92	5.92	0.95590	.	0.177135	0.49916	D	0.000134	T	0.13970	0.0338	L	0.59436	1.845	0.46044	D	0.998836	D;D;D	0.67145	0.993;0.996;0.996	P;P;D	0.65010	0.796;0.9;0.931	T	0.01386	-1.1368	10	0.35671	T	0.21	-18.8251	16.3636	0.83296	0.0:0.0:0.0:1.0	.	614;614;567	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	789;789;567	ENSP00000386840:I789S;ENSP00000295237:I789S;ENSP00000387255:I567S	ENSP00000295237:I789S	I	+	2	0	XIRP2	167808514	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.692000	0.84203	2.267000	0.75376	0.528000	0.53228	ATT		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168102574	168102574	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168102574G>T	ENST00000409195.1	+	9	4761	c.4672G>T	c.(4672-4674)Gat>Tat	p.D1558Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1558Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1336Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1383					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D1558Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCTTAGAAGATCTCTACTC	0.363																																					p.D1336Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4006T	2						.						51.0	49.0	50.0					2																	168102574		1818	4076	5894	167810820	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4672G>T	2.37:g.168102574G>T	ENSP00000386840:p.Asp1558Tyr		167810820	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457052	0.43634	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	5.56	4.68	0.58851	.	0.155915	0.56097	D	0.000034	T	0.03871	0.0109	N	0.14661	0.345	0.41908	D	0.990458	P;D;P	0.56035	0.956;0.974;0.846	P;P;P	0.51135	0.459;0.66;0.568	T	0.60419	-0.7267	10	0.44086	T	0.13	-4.1944	13.1091	0.59263	0.0784:0.0:0.9216:0.0	.	1383;1383;1336	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1558;1558;1336	ENSP00000386840:D1558Y;ENSP00000295237:D1558Y;ENSP00000387255:D1336Y	ENSP00000295237:D1558Y	D	+	1	0	XIRP2	167810820	1.000000	0.71417	0.669000	0.29828	0.960000	0.62799	4.602000	0.61098	1.360000	0.45960	0.563000	0.77884	GAT		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168103732	168103732	+	Missense_Mutation	SNP	G	G	A	rs374129597		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168103732G>A	ENST00000409195.1	+	9	5919	c.5830G>A	c.(5830-5832)Gta>Ata	p.V1944I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1944I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1722I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1769					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V1944I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGAAGGTGTAATAAAAAA	0.383																																					p.V1722I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5164A	2						.						46.0	43.0	44.0					2																	168103732		1842	4102	5944	167811978	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5830G>A	2.37:g.168103732G>A	ENSP00000386840:p.Val1944Ile		167811978	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.477762	0.00011	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02197	4.4;4.4;4.4	4.66	-4.66	0.03329	.	1.318270	0.04834	N	0.439297	T	0.01387	0.0045	N	0.16307	0.4	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.001;0.004;0.002	T	0.48127	-0.9062	10	0.05351	T	0.99	0.9339	7.9051	0.29757	0.5964:0.0:0.2936:0.11	.	1769;1769;1722	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1944;1944;1722	ENSP00000386840:V1944I;ENSP00000295237:V1944I;ENSP00000387255:V1722I	ENSP00000295237:V1944I	V	+	1	0	XIRP2	167811978	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.227000	0.17795	-0.880000	0.03997	-1.131000	0.01979	GTA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168104924	168104924	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168104924T>G	ENST00000409195.1	+	9	7111	c.7022T>G	c.(7021-7023)tTt>tGt	p.F2341C	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2341C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2119C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2166					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F2341C(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGAAAGTTTTCCAGGCCTC	0.458																																					p.F2119C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6356G	2						.						137.0	139.0	139.0					2																	168104924		1876	4104	5980	167813170	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7022T>G	2.37:g.168104924T>G	ENSP00000386840:p.Phe2341Cys		167813170	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465946	0.26335	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03717	3.83;3.83;3.83	5.95	4.77	0.60923	.	0.257134	0.36409	N	0.002618	T	0.05960	0.0155	L	0.56769	1.78	0.20196	N	0.999928	B;B;B	0.24368	0.028;0.047;0.102	B;B;B	0.24155	0.014;0.032;0.051	T	0.19976	-1.0289	10	0.41790	T	0.15	-0.4949	12.3216	0.54987	0.0:0.0:0.1417:0.8583	.	2166;2166;2119	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	2341;2341;2119	ENSP00000386840:F2341C;ENSP00000295237:F2341C;ENSP00000387255:F2119C	ENSP00000295237:F2341C	F	+	2	0	XIRP2	167813170	0.970000	0.33590	0.757000	0.31301	0.657000	0.38888	4.060000	0.57477	1.043000	0.40175	0.533000	0.62120	TTT		0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168105757	168105757	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168105757C>T	ENST00000409195.1	+	9	7944	c.7855C>T	c.(7855-7857)Cgg>Tgg	p.R2619W	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2619W|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2397W	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2444					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R2619W(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGTAATGCTCGGATACTAGG	0.463																																					p.R2397W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7189T	2						.						89.0	86.0	87.0					2																	168105757		1906	4118	6024	167814003	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7855C>T	2.37:g.168105757C>T	ENSP00000386840:p.Arg2619Trp		167814003	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495941	0.64186	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02631	4.22;4.22;4.22	5.71	4.81	0.61882	.	0.649429	0.15717	N	0.248095	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	D;D;P	0.57257	0.964;0.979;0.85	B;B;B	0.43123	0.232;0.409;0.409	T	0.49986	-0.8880	10	0.59425	D	0.04	0.0084	13.3963	0.60856	0.0:0.7945:0.2055:0.0	.	2444;2444;2397	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	W	2619;2619;2397;33	ENSP00000386840:R2619W;ENSP00000295237:R2619W;ENSP00000387255:R2397W	ENSP00000295237:R2619W	R	+	1	2	XIRP2	167814003	0.001000	0.12720	0.214000	0.23707	0.750000	0.42670	0.484000	0.22308	1.303000	0.44873	0.655000	0.94253	CGG		0.463	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106437	168106437	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168106437G>T	ENST00000409195.1	+	9	8624	c.8535G>T	c.(8533-8535)aaG>aaT	p.K2845N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2845N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2623N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2670					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K2845N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACATCTGAAGAATAAATCAG	0.383																																					p.K2623N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7869T	2						.						109.0	106.0	107.0					2																	168106437		1868	4105	5973	167814683	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8535G>T	2.37:g.168106437G>T	ENSP00000386840:p.Lys2845Asn		167814683	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310668	0.10733	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02890	4.12;4.12;4.13	4.43	0.269	0.15631	.	0.830760	0.10785	N	0.634440	T	0.02193	0.0068	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32160	0.244;0.358;0.358	B;B;B	0.30782	0.056;0.12;0.12	T	0.46148	-0.9212	10	0.35671	T	0.21	0.6126	1.9597	0.03384	0.164:0.13:0.4453:0.2607	.	2670;2670;2623	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2845;2845;2623;259	ENSP00000386840:K2845N;ENSP00000295237:K2845N;ENSP00000387255:K2623N	ENSP00000295237:K2845N	K	+	3	2	XIRP2	167814683	0.001000	0.12720	0.000000	0.03702	0.131000	0.20780	0.109000	0.15417	-0.021000	0.14009	0.655000	0.94253	AAG		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106743	168106743	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168106743C>A	ENST00000409195.1	+	9	8930	c.8841C>A	c.(8839-8841)ttC>ttA	p.F2947L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2772					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F2947L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGTGGAATTCTTGAGAAAAC	0.368																																					p.F2725L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8175A	2						.						91.0	89.0	90.0					2																	168106743		1831	4082	5913	167814989	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8841C>A	2.37:g.168106743C>A	ENSP00000386840:p.Phe2947Leu		167814989	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373616	0.42105	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	6.02	5.09	0.68999	.	0.457165	0.22842	N	0.054969	T	0.04182	0.0116	M	0.62723	1.935	0.30530	N	0.767505	B;B;B	0.24823	0.068;0.112;0.112	B;B;B	0.18561	0.01;0.022;0.022	T	0.08371	-1.0725	10	0.27082	T	0.32	-2.1736	9.5464	0.39284	0.0:0.8272:0.0:0.1728	.	2772;2772;2725	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2947;2947;2725;361	ENSP00000386840:F2947L;ENSP00000295237:F2947L;ENSP00000387255:F2725L	ENSP00000295237:F2947L	F	+	3	2	XIRP2	167814989	0.170000	0.23016	0.999000	0.59377	0.974000	0.67602	0.171000	0.16685	1.426000	0.47256	0.655000	0.94253	TTC		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168108198	168108198	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168108198G>A	ENST00000409195.1	+	9	10385	c.10296G>A	c.(10294-10296)tcG>tcA	p.S3432S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S3432S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S3210S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S3432S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTTGAGTCGAAGATGAAAA	0.448																																					p.S3210S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9630A	2						.						69.0	68.0	68.0					2																	168108198		1900	4119	6019	167816444	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10296G>A	2.37:g.168108198G>A			167816444	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115371	168115371	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:168115371C>T	ENST00000409728.1	+	11	2503	c.2414C>T	c.(2413-2415)tCg>tTg	p.S805L	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.S805L|XIRP2_ENST00000409605.1_Missense_Mutation_p.S550L|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.S772L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S772L|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	94					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S805L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGACTTATTCGAGGAATGTA	0.418																																					p.S805L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2414T	2						.						41.0	40.0	41.0					2																	168115371		1839	4092	5931	167823617	SO:0001583	missense	129446	exon11			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2414C>T	2.37:g.168115371C>T	ENSP00000386619:p.Ser805Leu		167823617	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	3'UTR	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016539	0.35606	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.85411	-1.88;-1.87;-1.88;-1.87;-1.98	5.67	4.8	0.61643	.	.	.	.	.	D	0.82692	0.5092	.	.	.	0.36047	D	0.840506	D;D	0.56521	0.976;0.976	B;B	0.42319	0.383;0.383	D	0.87494	0.2429	8	0.87932	D	0	.	12.7213	0.57144	0.0:0.9241:0.0:0.0759	.	772;805	A4UGR9-4;A4UGR9-6	.;.	L	772;805;772;805;550	ENSP00000386454:S772L;ENSP00000386619:S805L;ENSP00000386724:S772L;ENSP00000415541:S805L;ENSP00000386981:S550L	ENSP00000386454:S772L	S	+	2	0	XIRP2	167823617	0.012000	0.17670	0.008000	0.14137	0.111000	0.19643	1.835000	0.39181	1.408000	0.46895	0.561000	0.74099	TCG		0.418	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
CERS6	253782	broad.mit.edu	37	2	169551547	169551547	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169551547G>T	ENST00000305747.6	+	6	1182	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	CERS6_ENST00000392687.4_Missense_Mutation_p.D199Y	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	199	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.D199Y(1)									TCAGTTCACTGATATCAAAAG	0.413																																					p.D199Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G595T	2						.						214.0	182.0	193.0					2																	169551547		2203	4300	6503	169259793	SO:0001583	missense	253782	exon6			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.595G>T	2.37:g.169551547G>T	ENSP00000306579:p.Asp199Tyr		169259793	NM_203463	Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239249	0.79800	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.85171	-1.95;-1.95	5.51	5.51	0.81932	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96175	0.9126	10	0.87932	D	0	-33.0729	18.1779	0.89767	0.0:0.0:1.0:0.0	.	199;199	Q32M63;Q6ZMG9	.;CERS6_HUMAN	Y	199	ENSP00000306579:D199Y;ENSP00000376453:D199Y	ENSP00000306579:D199Y	D	+	1	0	CERS6	169259793	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	8.281000	0.89905	2.582000	0.87167	0.655000	0.94253	GAT		0.413	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463	
CERS6	253782	broad.mit.edu	37	2	169571515	169571515	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169571515T>G	ENST00000305747.6	+	7	1201	c.614T>G	c.(613-615)tTt>tGt	p.F205C	CERS6_ENST00000392687.4_Missense_Mutation_p.F205C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	205	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.F205C(1)									CTCAAGGACTTTGGCATTATG	0.398																																					p.F205C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T614G	2						.						292.0	273.0	280.0					2																	169571515		2203	4300	6503	169279761	SO:0001583	missense	253782	exon7			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.614T>G	2.37:g.169571515T>G	ENSP00000306579:p.Phe205Cys		169279761	NM_203463	Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668471	0.67814	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.86562	-2.14;-2.14	5.35	5.35	0.76521	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95677	0.8594	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.97031	0.9750	10	0.87932	D	0	-30.1858	14.3041	0.66373	0.0:0.0:0.0:1.0	.	205;205	Q32M63;Q6ZMG9	.;CERS6_HUMAN	C	205	ENSP00000306579:F205C;ENSP00000376453:F205C	ENSP00000306579:F205C	F	+	2	0	CERS6	169279761	1.000000	0.71417	0.996000	0.52242	0.542000	0.35054	7.450000	0.80656	2.018000	0.59344	0.533000	0.62120	TTT		0.398	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463	
NOSTRIN	115677	broad.mit.edu	37	2	169721373	169721373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169721373G>T	ENST00000317647.7	+	16	1643	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*	NOSTRIN_ENST00000397209.2_Nonsense_Mutation_p.E444*|NOSTRIN_ENST00000444448.2_Nonsense_Mutation_p.E529*|NOSTRIN_ENST00000458381.2_Nonsense_Mutation_p.E529*|NOSTRIN_ENST00000421711.2_Nonsense_Mutation_p.E444*|NOSTRIN_ENST00000445023.2_Nonsense_Mutation_p.E394*|NOSTRIN_ENST00000397206.2_Nonsense_Mutation_p.E394*	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	472	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.E529*(1)|p.E472*(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CGAGAAAAAAGAAGGAGGATG	0.423																																					p.E529X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1585T	2						.						140.0	127.0	131.0					2																	169721373		1863	4105	5968	169429619	SO:0001587	stop_gained	115677	exon21			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1414G>T	2.37:g.169721373G>T	ENSP00000318921:p.Glu472*		169429619	NM_001171631	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Nonsense_Mutation	SNP	ENST00000317647.7	37	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	41	8.614156	0.98886	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	.	.	.	4.96	4.07	0.47477	.	0.576772	0.18337	N	0.144313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-14.2349	11.4263	0.50012	0.0925:0.0:0.9075:0.0	.	.	.	.	X	529;529;472;394;394;444;444	.	ENSP00000318921:E472X	E	+	1	0	NOSTRIN	169429619	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.002000	0.49496	2.446000	0.82766	0.557000	0.71058	GAA		0.423	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946	
G6PC2	57818	broad.mit.edu	37	2	169758968	169758968	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169758968C>A	ENST00000375363.3	+	2	324	c.232C>A	c.(232-234)Cat>Aat	p.H78N	G6PC2_ENST00000421979.1_Intron|G6PC2_ENST00000429379.2_Missense_Mutation_p.H78N|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	78					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)	p.H78N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						ATTATTTGGTCATCGACCTTA	0.333																																					p.H78N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232A	2						.						85.0	81.0	82.0					2																	169758968		2203	4300	6503	169467214	SO:0001583	missense	57818	exon2			AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.232C>A	2.37:g.169758968C>A	ENSP00000364512:p.His78Asn		169467214	NM_021176	E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280361	0.59758	.	.	ENSG00000152254	ENST00000375363;ENST00000429379	T;T	0.74421	-0.84;-0.84	5.58	4.71	0.59529	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.146099	0.45361	D	0.000371	T	0.70107	0.3186	L	0.46157	1.445	0.80722	D	1	B;P	0.38677	0.425;0.642	B;B	0.37508	0.252;0.252	T	0.72584	-0.4249	10	0.56958	D	0.05	0.2432	16.679	0.85287	0.0:0.8702:0.1298:0.0	.	78;78	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	N	78	ENSP00000364512:H78N;ENSP00000396939:H78N	ENSP00000364512:H78N	H	+	1	0	G6PC2	169467214	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	2.375000	0.44283	1.359000	0.45940	-0.127000	0.14921	CAT		0.333	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176	
ABCB11	8647	broad.mit.edu	37	2	169801156	169801156	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169801156A>C	ENST00000263817.6	-	21	2693	c.2569T>G	c.(2569-2571)Ttg>Gtg	p.L857V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	857	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.L857V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTGTTGTCAATGCTCCAGGG	0.448																																					p.L857V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2569G	2						.						189.0	177.0	181.0					2																	169801156		1900	4130	6030	169509402	SO:0001583	missense	8647	exon21			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2569T>G	2.37:g.169801156A>C	ENSP00000263817:p.Leu857Val		169509402	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242538	0.58995	.	.	ENSG00000073734	ENST00000263817	D	0.93604	-3.25	5.74	0.858	0.19030	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96090	0.8726	M	0.85710	2.77	0.58432	D	0.999996	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.97	D	0.94960	0.8107	10	0.87932	D	0	.	10.8844	0.46957	0.3855:0.0:0.6145:0.0	.	299;857	B4DZQ8;O95342	.;ABCBB_HUMAN	V	857	ENSP00000263817:L857V	ENSP00000263817:L857V	L	-	1	2	ABCB11	169509402	0.699000	0.27786	0.871000	0.34182	0.892000	0.51952	0.976000	0.29462	0.050000	0.15949	-1.117000	0.02048	TTG		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
ABCB11	8647	broad.mit.edu	37	2	169850337	169850337	+	Missense_Mutation	SNP	G	G	A	rs199841445		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:169850337G>A	ENST00000263817.6	-	8	791	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	223	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.R223C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAGGTCATGCGCTGAATGAAA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20006	0.001		0.0	False		,,,				2504	0.0				p.R223C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667T	2						.	G	CYS/ARG	1,3785		0,1,1892	54.0	52.0	53.0		667	4.7	1.0	2		53	0,8212		0,0,4106	yes	missense	ABCB11	NM_003742.2	180	0,1,5998	AA,AG,GG		0.0,0.0264,0.0083	probably-damaging	223/1322	169850337	1,11997	1893	4106	5999	169558583	SO:0001583	missense	8647	exon8			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.667C>T	2.37:g.169850337G>A	ENSP00000263817:p.Arg223Cys		169558583	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.48	3.134778	0.56828	2.64E-4	0.0	ENSG00000073734	ENST00000263817	D	0.89617	-2.54	5.56	4.65	0.58169	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.094015	0.64402	D	0.000001	D	0.87962	0.6310	N	0.21194	0.64	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.85948	0.1462	10	0.38643	T	0.18	-5.9104	7.6409	0.28292	0.0871:0.0:0.7522:0.1607	.	223	O95342	ABCBB_HUMAN	C	223	ENSP00000263817:R223C	ENSP00000263817:R223C	R	-	1	0	ABCB11	169558583	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.907000	0.39897	1.242000	0.43836	0.650000	0.86243	CGC		0.408	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
LRP2	4036	broad.mit.edu	37	2	170009420	170009420	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170009420C>T	ENST00000263816.3	-	67	12635	c.12350G>A	c.(12349-12351)cGt>cAt	p.R4117H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4117					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R4117H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATGTAGGCACGTTTGATAGC	0.478																																					p.R4117H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12350A	2						.						245.0	241.0	242.0					2																	170009420		2203	4300	6503	169717666	SO:0001583	missense	4036	exon67				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.12350G>A	2.37:g.170009420C>T	ENSP00000263816:p.Arg4117His		169717666	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603582	0.96626	.	.	ENSG00000081479	ENST00000263816	D	0.90261	-2.64	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.102136	0.64402	D	0.000002	D	0.95614	0.8574	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	P	0.59115	0.852	D	0.95648	0.8704	10	0.62326	D	0.03	.	19.9507	0.97198	0.0:1.0:0.0:0.0	.	4117	P98164	LRP2_HUMAN	H	4117	ENSP00000263816:R4117H	ENSP00000263816:R4117H	R	-	2	0	LRP2	169717666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.763000	0.94921	0.655000	0.94253	CGT		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170025143	170025143	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170025143G>A	ENST00000263816.3	-	61	11826	c.11541C>T	c.(11539-11541)ttC>ttT	p.F3847F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3847	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F3847F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTTGCATTCGAACATAGTAG	0.428																																					p.F3847F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11541T	2						.						98.0	89.0	92.0					2																	170025143		2203	4300	6503	169733389	SO:0001819	synonymous_variant	4036	exon61				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.11541C>T	2.37:g.170025143G>A			169733389	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164966	0.21538	.	.	ENSG00000081479	ENST00000536293	.	.	.	5.82	-6.33	0.01988	.	.	.	.	.	T	0.62048	0.2396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63812	-0.6552	5	0.23891	T	0.37	.	17.3947	0.87442	0.8962:0.0:0.1038:0.0	.	.	.	.	L	512	.	ENSP00000438157:S512L	S	-	2	0	LRP2	169733389	0.971000	0.33674	0.855000	0.33649	0.823000	0.46562	0.340000	0.19892	-1.073000	0.03137	-0.367000	0.07326	TCG		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170026299	170026299	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170026299G>T	ENST00000263816.3	-	60	11695	c.11410C>A	c.(11410-11412)Cag>Aag	p.Q3804K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3804	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Q3804K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTTGTACACTGAAAATATTCA	0.433																																					p.Q3804K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11410A	2						.						144.0	120.0	128.0					2																	170026299		2203	4300	6503	169734545	SO:0001583	missense	4036	exon60				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.11410C>A	2.37:g.170026299G>T	ENSP00000263816:p.Gln3804Lys		169734545	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658978	0.96734	.	.	ENSG00000081479	ENST00000263816	D	0.95622	-3.76	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	L	0.33245	0.995	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94411	0.7632	10	0.27082	T	0.32	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3804	P98164	LRP2_HUMAN	K	3804	ENSP00000263816:Q3804K	ENSP00000263816:Q3804K	Q	-	1	0	LRP2	169734545	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.624000	0.98398	2.941000	0.99782	0.655000	0.94253	CAG		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170030522	170030522	+	Missense_Mutation	SNP	G	G	A	rs373064113		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170030522G>A	ENST00000263816.3	-	56	11206	c.10921C>T	c.(10921-10923)Cgg>Tgg	p.R3641W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3641	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3641W(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTAGCACACCGAAACTGGCCC	0.537																																					p.R3641W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10921T	2						.	G	TRP/ARG	0,4406		0,0,2203	77.0	70.0	72.0		10921	4.2	0.2	2		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3641/4656	170030522	1,13005	2203	4300	6503	169738768	SO:0001583	missense	4036	exon56				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.10921C>T	2.37:g.170030522G>A	ENSP00000263816:p.Arg3641Trp		169738768	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223463	0.39300	0.0	1.16E-4	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.96334	-3.98	5.31	4.16	0.48862	.	0.447170	0.27035	N	0.021248	D	0.97139	0.9065	M	0.75447	2.3	0.30469	N	0.773517	D	0.76494	0.999	P	0.60345	0.873	D	0.95081	0.8213	10	0.72032	D	0.01	.	11.3482	0.49573	0.0:0.0:0.3044:0.6956	.	3641	P98164	LRP2_HUMAN	W	3641;336	ENSP00000263816:R3641W	ENSP00000263816:R3641W	R	-	1	2	LRP2	169738768	0.949000	0.32298	0.185000	0.23176	0.018000	0.09664	2.170000	0.42443	0.884000	0.36064	-0.280000	0.10049	CGG		0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170077010	170077010	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170077010G>T	ENST00000263816.3	-	34	5887	c.5602C>A	c.(5602-5604)Ctt>Att	p.L1868I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1868					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L1868I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAACTCCAAGAGCTGTCCCA	0.398																																					p.L1868I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5602A	2						.						145.0	129.0	134.0					2																	170077010		2203	4300	6503	169785256	SO:0001583	missense	4036	exon34				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.5602C>A	2.37:g.170077010G>T	ENSP00000263816:p.Leu1868Ile		169785256	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028165	0.35797	.	.	ENSG00000081479	ENST00000263816	D	0.89485	-2.52	5.87	1.75	0.24633	Six-bladed beta-propeller, TolB-like (1);	0.591766	0.18723	N	0.132941	T	0.82213	0.4988	M	0.68952	2.095	0.09310	N	0.999999	P	0.36222	0.544	B	0.30495	0.116	T	0.71034	-0.4709	10	0.35671	T	0.21	.	2.7631	0.05312	0.134:0.1127:0.3583:0.395	.	1868	P98164	LRP2_HUMAN	I	1868	ENSP00000263816:L1868I	ENSP00000263816:L1868I	L	-	1	0	LRP2	169785256	0.993000	0.37304	0.164000	0.22755	0.945000	0.59286	2.547000	0.45786	0.340000	0.23745	0.650000	0.86243	CTT		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170090062	170090062	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170090062C>A	ENST00000263816.3	-	30	5242	c.4957G>T	c.(4957-4959)Gac>Tac	p.D1653Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1653					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D1653Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TACACAGAGTCTTCAAAGAGA	0.478																																					p.D1653Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4957T	2						.						71.0	65.0	67.0					2																	170090062		2203	4300	6503	169798308	SO:0001583	missense	4036	exon30				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.4957G>T	2.37:g.170090062C>A	ENSP00000263816:p.Asp1653Tyr		169798308	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558161	0.65538	.	.	ENSG00000081479	ENST00000263816	D	0.92099	-2.97	5.16	5.16	0.70880	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.092419	0.64402	D	0.000001	D	0.97476	0.9174	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.65684	0.937	D	0.98718	1.0707	10	0.87932	D	0	.	19.018	0.92902	0.0:1.0:0.0:0.0	.	1653	P98164	LRP2_HUMAN	Y	1653	ENSP00000263816:D1653Y	ENSP00000263816:D1653Y	D	-	1	0	LRP2	169798308	1.000000	0.71417	0.995000	0.50966	0.074000	0.17049	7.750000	0.85110	2.573000	0.86826	0.557000	0.71058	GAC		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170150730	170150730	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170150730C>T	ENST00000263816.3	-	6	865	c.580G>A	c.(580-582)Gag>Aag	p.E194K	LRP2_ENST00000443831.1_Missense_Mutation_p.E194K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	194	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E194K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGGATACACTCTCCATTGCCA	0.433																																					p.E194K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	2						.						172.0	144.0	154.0					2																	170150730		2203	4300	6503	169858976	SO:0001583	missense	4036	exon6				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.580G>A	2.37:g.170150730C>T	ENSP00000263816:p.Glu194Lys		169858976	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	7.980	0.751031	0.15778	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95482	-3.72;-3.72	5.58	1.59	0.23543	.	0.780131	0.12219	N	0.488581	D	0.89111	0.6622	N	0.16098	0.37	0.38717	D	0.953367	B;P	0.38395	0.098;0.629	B;B	0.40982	0.173;0.345	T	0.81141	-0.1068	9	.	.	.	.	6.8216	0.23861	0.1232:0.5735:0.2377:0.0655	.	194;194	E9PC35;P98164	.;LRP2_HUMAN	K	194	ENSP00000263816:E194K;ENSP00000409813:E194K	.	E	-	1	0	LRP2	169858976	0.951000	0.32395	0.028000	0.17463	0.036000	0.12997	0.586000	0.23894	0.066000	0.16515	-0.176000	0.13171	GAG		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
KLHL41	10324	broad.mit.edu	37	2	170366315	170366315	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170366315G>T	ENST00000284669.1	+	1	104	c.27G>T	c.(25-27)gaG>gaT	p.E9D	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	9					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.E9D(1)									AACTTGCAGAGGAACTGCGGC	0.478																																					p.E9D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G27T	2						.						87.0	91.0	89.0					2																	170366315		2203	4300	6503	170074561	SO:0001583	missense	10324	exon1			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.27G>T	2.37:g.170366315G>T	ENSP00000284669:p.Glu9Asp		170074561	NM_006063	Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402635	0.25291	.	.	ENSG00000239474	ENST00000284669	T	0.73258	-0.73	5.03	5.03	0.67393	BTB/POZ fold (1);	0.049205	0.85682	D	0.000000	T	0.55673	0.1935	L	0.35288	1.05	0.47905	D	0.999548	B	0.20988	0.05	B	0.23574	0.047	T	0.51849	-0.8653	10	0.25751	T	0.34	.	6.6872	0.23152	0.1319:0.0:0.71:0.1581	.	9	O60662	KBTBA_HUMAN	D	9	ENSP00000284669:E9D	ENSP00000284669:E9D	E	+	3	2	KBTBD10	170074561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.314000	0.43743	2.323000	0.78572	0.585000	0.79938	GAG		0.478	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
KLHL41	10324	broad.mit.edu	37	2	170366494	170366494	+	Missense_Mutation	SNP	C	C	T	rs151212497		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170366494C>T	ENST00000284669.1	+	1	283	c.206C>T	c.(205-207)gCg>gTg	p.A69V	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.A69V(1)									ATTGATGAGGCGAAAAAAAAG	0.388																																					p.A69V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C206T	2						.	C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	147.0	146.0	146.0		206	-8.0	0.3	2	dbSNP_134	146	0,8600		0,0,4300	no	missense	KBTBD10	NM_006063.2	64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	69/607	170366494	4,13002	2203	4300	6503	170074740	SO:0001583	missense	10324	exon1			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.206C>T	2.37:g.170366494C>T	ENSP00000284669:p.Ala69Val		170074740	NM_006063	Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133833	0.37630	9.08E-4	0.0	ENSG00000239474	ENST00000284669	T	0.71698	-0.59	5.17	-8.03	0.01114	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.336995	0.33980	N	0.004372	T	0.56108	0.1963	L	0.58810	1.83	0.20703	N	0.999863	B	0.27594	0.182	B	0.28916	0.096	T	0.42666	-0.9438	10	0.56958	D	0.05	.	7.0064	0.24838	0.405:0.4496:0.0599:0.0855	.	69	O60662	KBTBA_HUMAN	V	69	ENSP00000284669:A69V	ENSP00000284669:A69V	A	+	2	0	KBTBD10	170074740	1.000000	0.71417	0.315000	0.25238	0.898000	0.52572	3.337000	0.52120	-1.967000	0.01008	-0.291000	0.09656	GCG		0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
KLHL41	10324	broad.mit.edu	37	2	170367161	170367161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170367161C>A	ENST00000284669.1	+	1	950	c.873C>A	c.(871-873)taC>taA	p.Y291*	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	291					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.Y291*(1)									TTCCTGGTTACCTGAATGACA	0.473																																					p.Y291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C873A	2						.						143.0	145.0	144.0					2																	170367161		2203	4300	6503	170075407	SO:0001587	stop_gained	10324	exon1			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.873C>A	2.37:g.170367161C>A	ENSP00000284669:p.Tyr291*		170075407	NM_006063	Q53R42	Nonsense_Mutation	SNP	ENST00000284669.1	37	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313054	0.95655	.	.	ENSG00000239474	ENST00000284669	.	.	.	5.32	4.44	0.53790	.	0.053841	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4217	0.32705	0.0:0.7659:0.0:0.2341	.	.	.	.	X	291	.	ENSP00000284669:Y291X	Y	+	3	2	KBTBD10	170075407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.243000	0.32767	1.242000	0.43836	0.467000	0.42956	TAC		0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
KLHL41	10324	broad.mit.edu	37	2	170371087	170371087	+	Missense_Mutation	SNP	G	G	A	rs190032295		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170371087G>A	ENST00000284669.1	+	2	1191	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D310N|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.D310N	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	372					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)		p.D372N(1)									TTTTCAGCTCGATAGCATAGC	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18518	0.0		0.0	False		,,,				2504	0.0				p.D372N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	2						.						71.0	70.0	70.0					2																	170371087		2203	4300	6503	170079333	SO:0001583	missense	10324	exon2			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1114G>A	2.37:g.170371087G>A	ENSP00000284669:p.Asp372Asn		170079333	NM_006063	Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	CCDS2234.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.27	3.587628	0.66105	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.71341	-0.56;-0.56;-0.56	5.72	5.72	0.89469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	M	0.67397	2.05	0.80722	D	1	P;D	0.76494	0.664;0.999	B;D	0.71870	0.195;0.975	T	0.80997	-0.1132	10	0.41790	T	0.15	-1.3808	20.2406	0.98372	0.0:0.0:1.0:0.0	.	310;372	E9PBE3;O60662	.;KBTBA_HUMAN	N	310;310;372	ENSP00000452313:D310N;ENSP00000424363:D310N;ENSP00000284669:D372N	ENSP00000284669:D372N	D	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170079333	1.000000	0.71417	0.998000	0.56505	0.158000	0.22134	7.871000	0.87180	2.857000	0.98124	0.650000	0.86243	GAT		0.393	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	
FASTKD1	79675	broad.mit.edu	37	2	170402869	170402869	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170402869C>A	ENST00000453153.2	-	8	1906	c.1560G>T	c.(1558-1560)atG>atT	p.M520I	FASTKD1_ENST00000453929.2_Missense_Mutation_p.M520I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	520					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.M520I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AAGTAGCAATCATTTCTTCAA	0.368																																					p.M520I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1560T	2						.						92.0	88.0	89.0					2																	170402869		2203	4300	6503	170111115	SO:0001583	missense	79675	exon8			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1560G>T	2.37:g.170402869C>A	ENSP00000400513:p.Met520Ile		170111115	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	3.854	-0.031327	0.07543	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.16457	2.34;2.34	4.57	-7.67	0.01272	.	0.569606	0.20222	N	0.096662	T	0.05777	0.0151	N	0.22421	0.69	0.09310	N	1	B;B	0.20052	0.041;0.024	B;B	0.10450	0.005;0.002	T	0.27054	-1.0085	10	0.17832	T	0.49	-14.7619	1.6611	0.02792	0.2934:0.1348:0.3659:0.2058	.	520;520	Q53R41-2;Q53R41	.;FAKD1_HUMAN	I	520	ENSP00000400513:M520I;ENSP00000403229:M520I	ENSP00000400513:M520I	M	-	3	0	FASTKD1	170111115	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	-0.635000	0.05471	-1.531000	0.01749	-0.302000	0.09304	ATG		0.368	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
CCDC173	129881	broad.mit.edu	37	2	170531499	170531499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170531499C>A	ENST00000447353.1	-	3	451	c.346G>T	c.(346-348)Gag>Tag	p.E116*		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	116								p.E110*(1)									CTTTCTGCCTCTATTTCTTCA	0.303																																					p.E116X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G346T	2						.						61.0	53.0	56.0					2																	170531499		1812	4063	5875	170239745	SO:0001587	stop_gained	129881	exon3			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.346G>T	2.37:g.170531499C>A	ENSP00000391504:p.Glu116*		170239745	NM_001085447	Q6PJF6	Nonsense_Mutation	SNP	ENST00000447353.1	37	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166646	0.78339	.	.	ENSG00000154479	ENST00000447353;ENST00000421028;ENST00000419478	.	.	.	6.03	5.15	0.70609	.	0.153481	0.42172	U	0.000751	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.727	0.69351	0.0:0.9313:0.0:0.0686	.	.	.	.	X	116;17;92	.	ENSP00000408143:E92X	E	-	1	0	C2orf77	170239745	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	4.549000	0.60726	2.861000	0.98227	0.655000	0.94253	GAG		0.303	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447	
KLHL23	151230	broad.mit.edu	37	2	170592252	170592252	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170592252G>T	ENST00000392647.2	+	2	972	c.728G>T	c.(727-729)aGa>aTa	p.R243I	KLHL23_ENST00000272797.4_Missense_Mutation_p.R243I|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	243								p.R243I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GGCCTTCAAAGAAGCTGCCTG	0.398																																					p.R243I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728T	2						.						63.0	66.0	65.0					2																	170592252		2203	4300	6503	170300498	SO:0001583	missense	151230	exon4			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.728G>T	2.37:g.170592252G>T	ENSP00000376419:p.Arg243Ile		170300498	NM_001199290	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478080	0.44044	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.70516	-0.48;-0.48;-0.49	5.81	5.81	0.92471	.	0.183555	0.64402	D	0.000019	T	0.48874	0.1524	N	0.08118	0	0.33203	D	0.552387	B	0.14012	0.009	B	0.14578	0.011	T	0.55823	-0.8080	9	0.66056	D	0.02	.	7.6139	0.28145	0.1933:0.0:0.8067:0.0	.	243	Q8NBE8	KLH23_HUMAN	I	243;243;64	ENSP00000272797:R243I;ENSP00000376419:R243I;ENSP00000394732:R64I	ENSP00000272797:R243I	R	+	2	0	KLHL23	170300498	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.241000	0.65384	2.738000	0.93877	0.655000	0.94253	AGA		0.398	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
METTL5	29081	broad.mit.edu	37	2	170669011	170669011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170669011G>A	ENST00000260953.5	-	6	863	c.547C>T	c.(547-549)Cga>Tga	p.R183*	METTL5_ENST00000409837.1_Nonsense_Mutation_p.R183*|METTL5_ENST00000410097.1_Nonsense_Mutation_p.R183*|METTL5_ENST00000409965.1_Nonsense_Mutation_p.R183*|METTL5_ENST00000409340.1_Nonsense_Mutation_p.R84*|METTL5_ENST00000308099.3_Nonsense_Mutation_p.R138*|METTL5_ENST00000392640.2_Nonsense_Mutation_p.R183*	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	183							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.R183*(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						AGGTCATATCGAAGTTCTGTA	0.373																																					p.R183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C547T	2						.						126.0	129.0	128.0					2																	170669011		2203	4300	6503	170377257	SO:0001587	stop_gained	29081	exon6			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.547C>T	2.37:g.170669011G>A	ENSP00000260953:p.Arg183*		170377257	NM_014168	D3DPC9|Q9NVX1	Nonsense_Mutation	SNP	ENST00000260953.5	37	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	G	37	6.290675	0.97449	.	.	ENSG00000138382	ENST00000409837;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097;ENST00000538491	.	.	.	5.54	3.64	0.41730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.494	14.2564	0.66055	0.0:0.0:0.4563:0.5437	.	.	.	.	X	183;84;183;183;183;138;183;39	.	ENSP00000260953:R183X	R	-	1	2	METTL5	170377257	0.979000	0.34478	0.998000	0.56505	0.997000	0.91878	1.289000	0.33307	0.589000	0.29677	0.591000	0.81541	CGA		0.373	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	
METTL5	29081	broad.mit.edu	37	2	170677648	170677648	+	Silent	SNP	G	G	A	rs373339746		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170677648G>A	ENST00000260953.5	-	3	676	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000410097.1_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000392640.2_Silent_p.F120F	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	120							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.F120F(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303																																					p.F120F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C360T	2						.	G		0,4406		0,0,2203	103.0	103.0	103.0		360	3.8	1.0	2		103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	METTL5	NM_014168.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		120/210	170677648	2,13004	2203	4300	6503	170385894	SO:0001819	synonymous_variant	29081	exon3			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.360C>T	2.37:g.170677648G>A			170385894	NM_014168	D3DPC9|Q9NVX1	Silent	SNP	ENST00000260953.5	37	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	G	9.178	1.022876	0.19433	0.0	2.33E-4	ENSG00000138382	ENST00000540464;ENST00000442181	.	.	.	5.04	3.81	0.43845	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53373	-0.8448	4	.	.	.	-2.7061	8.2197	0.31534	0.8422:0.0:0.1578:0.0	.	.	.	.	L	120;31	.	.	S	-	2	0	METTL5	170385894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.675000	0.54605	0.854000	0.35336	-0.290000	0.09829	TCG		0.303	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1	NM_014168	
UBR3	130507	broad.mit.edu	37	2	170857922	170857922	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:170857922C>T	ENST00000272793.5	+	27	4077	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W	UBR3_ENST00000392631.1_Missense_Mutation_p.R164W|UBR3_ENST00000418381.1_Missense_Mutation_p.R1343W			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1343					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R196W(1)|p.R1343W(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GGAATCATTACGGGTAAGTTG	0.338																																					p.R1343W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4027T	2						.						98.0	93.0	95.0					2																	170857922		2203	4299	6502	170566168	SO:0001583	missense	130507	exon27			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4027C>T	2.37:g.170857922C>T	ENSP00000272793:p.Arg1343Trp		170566168	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	c	14.66	2.600256	0.46423	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.64803	-0.12;-0.12;-0.12;0.67	5.05	4.16	0.48862	Zinc finger, RING/FYVE/PHD-type (1);	0.054772	0.64402	D	0.000001	T	0.51924	0.1703	L	0.41236	1.265	0.41529	D	0.988447	B;B;B	0.25105	0.008;0.012;0.118	B;B;B	0.14578	0.003;0.008;0.011	T	0.56854	-0.7910	10	0.66056	D	0.02	.	13.2413	0.59997	0.0:0.9225:0.0:0.0775	.	1343;164;1343	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	W	1343;1343;1343;164;14	ENSP00000272793:R1343W;ENSP00000396068:R1343W;ENSP00000376408:R164W;ENSP00000389097:R14W	ENSP00000272793:R1343W	R	+	1	2	UBR3	170566168	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.698000	0.37794	2.518000	0.84900	0.298000	0.19748	CGG		0.338	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
MYO3B	140469	broad.mit.edu	37	2	171070963	171070963	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171070963G>T	ENST00000408978.4	+	4	539	c.396G>T	c.(394-396)atG>atT	p.M132I	MYO3B_ENST00000409044.3_Missense_Mutation_p.M132I|MYO3B_ENST00000334231.6_Missense_Mutation_p.M141I|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.M132I(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGAAGCAATGATCTCATACA	0.493																																					p.M132I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G396T	2						.						99.0	94.0	95.0					2																	171070963		1957	4156	6113	170779209	SO:0001583	missense	140469	exon4				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.396G>T	2.37:g.171070963G>T	ENSP00000386213:p.Met132Ile		170779209	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.332403|1.332403	0.24167|0.24167	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000442690|ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.|T;T;T;T	.|0.64618	.|-0.11;-0.11;-0.11;-0.11	5.41|5.41	3.33|3.33	0.38152|0.38152	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.725862	.|0.14305	.|N	.|0.328027	T|T	0.32436|0.32436	0.0829|0.0829	N|N	0.03084|0.03084	-0.415|-0.415	0.28187|0.28187	N|N	0.927921|0.927921	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.001;0.0;0.0;0.0	T|T	0.14643|0.14643	-1.0465|-1.0465	5|10	.|0.15066	.|T	.|0.55	.|.	7.0749|7.0749	0.25199|0.25199	0.1665:0.285:0.5484:0.0|0.1665:0.285:0.5484:0.0	.|.	.|132;132;132;132	.|Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.|.;.;.;MYO3B_HUMAN	Y|I	132|132;132;131;141;141	.|ENSP00000386497:M132I;ENSP00000386213:M132I;ENSP00000446237:M141I;ENSP00000335100:M141I	.|ENSP00000314213:M131I	D|M	+|+	1|3	0|0	MYO3B|MYO3B	170779209|170779209	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	0.772000|0.772000	0.26647|0.26647	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	GAT|ATG		0.493	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171248043	171248043	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171248043T>G	ENST00000408978.4	+	15	1734	c.1591T>G	c.(1591-1593)Ttt>Gtt	p.F531V	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F531V|MYO3B_ENST00000334231.6_Missense_Mutation_p.F540V	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	531	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.F531V(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAGAAAAATTTTCATATATT	0.343																																					p.F531V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1591G	2						.						22.0	23.0	23.0					2																	171248043		1774	4045	5819	170956289	SO:0001583	missense	140469	exon15				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1591T>G	2.37:g.171248043T>G	ENSP00000386213:p.Phe531Val		170956289	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631939	0.87660	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.94648	0.7836	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	531;531;531	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	V	531;531;530;540;540	ENSP00000386497:F531V;ENSP00000386213:F531V;ENSP00000446237:F540V;ENSP00000335100:F540V	ENSP00000314213:F530V	F	+	1	0	MYO3B	170956289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.499000	0.81566	2.371000	0.80710	0.533000	0.62120	TTT		0.343	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171248960	171248960	+	Silent	SNP	C	C	T	rs369862213	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171248960C>T	ENST00000408978.4	+	16	1889	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.F582F|MYO3B_ENST00000334231.6_Silent_p.F591F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	582	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.F582F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAAGACAATTCGAAGCAATTC	0.398													C|||	2	0.000399361	0.0	0.0	5008	,	,		22538	0.0		0.0	False		,,,				2504	0.002				p.F582F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1746T	2						.						114.0	104.0	107.0					2																	171248960		1920	4127	6047	170957206	SO:0001819	synonymous_variant	140469	exon16				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1746C>T	2.37:g.171248960C>T			170957206	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	CCDS42773.1																																																																																				0.398	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171258191	171258191	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171258191G>A	ENST00000408978.4	+	18	2262	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E707K|MYO3B_ENST00000334231.6_Missense_Mutation_p.E716K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	707	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.E707K(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGCCAGACGAAAACATATG	0.527																																					p.E707K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2119A	2						.						47.0	44.0	45.0					2																	171258191		1947	4144	6091	170966437	SO:0001583	missense	140469	exon18				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2119G>A	2.37:g.171258191G>A	ENSP00000386213:p.Glu707Lys		170966437	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	8.068	0.769706	0.15983	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.92	5.92	0.95590	Myosin head, motor domain (2);	0.323419	0.40554	N	0.001063	T	0.35941	0.0949	N	0.00677	-1.265	0.19300	N	0.999979	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.23547	-1.0185	10	0.06757	T	0.87	.	12.1441	0.54014	0.9334:0.0:0.0666:0.0	.	707;707;707	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	K	707;707;706;716;716	ENSP00000386497:E707K;ENSP00000386213:E707K;ENSP00000446237:E716K;ENSP00000335100:E716K	ENSP00000314213:E706K	E	+	1	0	MYO3B	170966437	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	4.512000	0.60469	1.077000	0.40990	-0.254000	0.11334	GAA		0.527	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171259412	171259412	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171259412T>A	ENST00000408978.4	+	19	2327	c.2184T>A	c.(2182-2184)aaT>aaA	p.N728K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.N728K|MYO3B_ENST00000334231.6_Missense_Mutation_p.N737K	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	728	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.N728K(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATTCGAGAATTTTCAGAGAA	0.413																																					p.N728K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2184A	2						.						130.0	120.0	123.0					2																	171259412		1861	4101	5962	170967658	SO:0001583	missense	140469	exon19				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2184T>A	2.37:g.171259412T>A	ENSP00000386213:p.Asn728Lys		170967658	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159853	0.57368	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	6.02	2.27	0.28462	Myosin head, motor domain (3);	0.077058	0.85682	D	0.000000	D	0.91771	0.7397	M	0.79011	2.435	0.39490	D	0.96802	D;B;P	0.67145	0.996;0.243;0.809	D;B;P	0.64595	0.927;0.167;0.589	D	0.90882	0.4754	10	0.51188	T	0.08	.	12.8328	0.57756	0.0:0.8866:0.0:0.1134	.	728;728;728	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	K	728;728;727;737;737	ENSP00000386497:N728K;ENSP00000386213:N728K;ENSP00000446237:N737K;ENSP00000335100:N737K	ENSP00000314213:N727K	N	+	3	2	MYO3B	170967658	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.378000	0.34328	0.116000	0.18110	0.533000	0.62120	AAT		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
GAD1	2571	broad.mit.edu	37	2	171702049	171702049	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171702049C>T	ENST00000358196.3	+	8	1335	c.785C>T	c.(784-786)gCt>gTt	p.A262V		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	262					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.A262V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AGCATCATGGCTGCTCGCTAC	0.507																																					p.A262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	2						.						116.0	115.0	116.0					2																	171702049		2203	4300	6503	171410295	SO:0001583	missense	2571	exon8				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.785C>T	2.37:g.171702049C>T	ENSP00000350928:p.Ala262Val		171410295	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620056	0.28801	.	.	ENSG00000128683	ENST00000358196	T	0.62364	0.03	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.152563	0.64402	D	0.000011	T	0.40645	0.1125	N	0.05124	-0.11	0.80722	D	1	B	0.15473	0.013	B	0.12156	0.007	T	0.44050	-0.9353	10	0.02654	T	1	-11.7753	19.7657	0.96340	0.0:1.0:0.0:0.0	.	262	Q99259	DCE1_HUMAN	V	262	ENSP00000350928:A262V	ENSP00000350928:A262V	A	+	2	0	GAD1	171410295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.590000	0.67530	2.649000	0.89929	0.655000	0.94253	GCT		0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
GORASP2	26003	broad.mit.edu	37	2	171811171	171811171	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171811171G>A	ENST00000234160.4	+	6	1393	c.578G>A	c.(577-579)gGc>gAc	p.G193D	GORASP2_ENST00000493692.1_Intron|GORASP2_ENST00000452526.2_Missense_Mutation_p.G205D	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	193					mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.G193D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CTAGGATGTGGCATTGGATAT	0.403																																					p.G193D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G578A	2						.						109.0	104.0	105.0					2																	171811171		2203	4300	6503	171519417	SO:0001583	missense	26003	exon6				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.578G>A	2.37:g.171811171G>A	ENSP00000234160:p.Gly193Asp		171519417	NM_015530	B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098758	0.76870	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.46451	0.9;0.87	5.84	5.84	0.93424	.	0.049198	0.85682	D	0.000000	T	0.37625	0.1010	L	0.31065	0.9	0.80722	D	1	B;B;P	0.42518	0.414;0.414;0.782	B;B;B	0.43018	0.204;0.204;0.405	T	0.04017	-1.0984	10	0.21540	T	0.41	-12.0031	18.333	0.90277	0.0:0.0:1.0:0.0	.	149;205;193	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	D	193;205	ENSP00000234160:G193D;ENSP00000410208:G205D	ENSP00000234160:G193D	G	+	2	0	GORASP2	171519417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.762000	0.94881	0.551000	0.68910	GGC		0.403	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2		
TLK1	9874	broad.mit.edu	37	2	171850438	171850438	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171850438C>T	ENST00000431350.2	-	21	2557	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	TLK1_ENST00000360843.3_Missense_Mutation_p.R739Q|TLK1_ENST00000434911.2_Missense_Mutation_p.R622Q|TLK1_ENST00000442919.2_Missense_Mutation_p.R670Q|TLK1_ENST00000521943.1_Missense_Mutation_p.R670Q			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R670Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATCTTCTTTTCGATATGCCAA	0.393																																					p.R718Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2153A	2						.						134.0	120.0	125.0					2																	171850438		2203	4300	6503	171558684	SO:0001583	missense	9874	exon21			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.2153G>A	2.37:g.171850438C>T	ENSP00000411099:p.Arg718Gln		171558684	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873091	0.51695	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063919	0.64402	D	0.000014	T	0.24005	0.0581	N	0.16743	0.435	0.80722	D	1	P;P;P	0.51537	0.941;0.946;0.875	P;B;B	0.45195	0.473;0.342;0.269	T	0.03315	-1.1049	10	0.87932	D	0	-20.8556	19.845	0.96705	0.0:1.0:0.0:0.0	.	622;739;718	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	Q	670;718;739;670;622	ENSP00000402165:R670Q;ENSP00000411099:R718Q;ENSP00000354089:R739Q;ENSP00000428113:R670Q;ENSP00000409222:R622Q	ENSP00000354089:R739Q	R	-	2	0	TLK1	171558684	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	7.818000	0.86416	2.698000	0.92095	0.650000	0.86243	CGA		0.393	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
TLK1	9874	broad.mit.edu	37	2	171863327	171863327	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171863327G>T	ENST00000431350.2	-	16	1985	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L	TLK1_ENST00000360843.3_Missense_Mutation_p.F548L|TLK1_ENST00000434911.2_Missense_Mutation_p.F431L|TLK1_ENST00000442919.2_Missense_Mutation_p.F479L|TLK1_ENST00000521943.1_Missense_Mutation_p.F479L			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F527L(1)|p.F479L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TATCCAAGGAGAAATAATCAT	0.348																																					p.F527L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1581A	2						.						108.0	116.0	114.0					2																	171863327		2203	4297	6500	171571573	SO:0001583	missense	9874	exon16			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1581C>A	2.37:g.171863327G>T	ENSP00000411099:p.Phe527Leu		171571573	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421428	0.62622	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.95	4.06	0.47325	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.41236	1.265	0.80722	D	1	D;D;D	0.76494	0.985;0.994;0.999	D;D;D	0.91635	0.914;0.919;0.999	T	0.09378	-1.0677	10	0.49607	T	0.09	.	8.3235	0.32142	0.2399:0.0:0.7601:0.0	.	431;548;527	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	L	479;527;548;479;431	ENSP00000402165:F479L;ENSP00000411099:F527L;ENSP00000354089:F548L;ENSP00000428113:F479L;ENSP00000409222:F431L	ENSP00000354089:F548L	F	-	3	2	TLK1	171571573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.822000	0.39052	1.232000	0.43678	0.454000	0.30748	TTC		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
TLK1	9874	broad.mit.edu	37	2	171906331	171906331	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171906331G>A	ENST00000431350.2	-	10	1377	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	TLK1_ENST00000360843.3_Missense_Mutation_p.L346F|TLK1_ENST00000434911.2_Missense_Mutation_p.L229F|TLK1_ENST00000442919.2_Missense_Mutation_p.L277F|TLK1_ENST00000521943.1_Missense_Mutation_p.L277F			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	325					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L277F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AACTTCACAAGATTCTGAAAT	0.343																																					p.L325F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C973T	2						.						108.0	103.0	105.0					2																	171906331		2203	4300	6503	171614577	SO:0001583	missense	9874	exon10			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.973C>T	2.37:g.171906331G>A	ENSP00000411099:p.Leu325Phe		171614577	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516951	0.85495	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.70164	-0.42;-0.46;-0.42;-0.42;-0.39	5.72	5.72	0.89469	.	0.060456	0.64402	D	0.000002	D	0.85305	0.5666	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.98;0.991;0.999	D	0.86680	0.1916	10	0.87932	D	0	-16.0099	20.2504	0.98404	0.0:0.0:1.0:0.0	.	229;346;325	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	F	277;325;346;277;229	ENSP00000402165:L277F;ENSP00000411099:L325F;ENSP00000354089:L346F;ENSP00000428113:L277F;ENSP00000409222:L229F	ENSP00000354089:L346F	L	-	1	0	TLK1	171614577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.875000	0.87205	2.850000	0.98022	0.650000	0.86243	CTT		0.343	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
TLK1	9874	broad.mit.edu	37	2	171906585	171906585	+	Missense_Mutation	SNP	G	G	A	rs564665685		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:171906585G>A	ENST00000431350.2	-	9	1236	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	TLK1_ENST00000360843.3_Missense_Mutation_p.L299F|TLK1_ENST00000434911.2_Missense_Mutation_p.L182F|TLK1_ENST00000442919.2_Missense_Mutation_p.L230F|TLK1_ENST00000521943.1_Missense_Mutation_p.L230F			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	278					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L230F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTCAATAAGAAGTTTCTTG	0.313																																					p.L278F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832T	2						.						110.0	103.0	105.0					2																	171906585		2201	4299	6500	171614831	SO:0001583	missense	9874	exon9			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.832C>T	2.37:g.171906585G>A	ENSP00000411099:p.Leu278Phe		171614831	NM_012290	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003547	0.74932	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.74315	-0.76;-0.83;-0.75;-0.76;-0.68	6.03	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.87184	0.6114	M	0.86864	2.845	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.998;0.999	D	0.88617	0.3160	10	0.87932	D	0	-21.3314	13.885	0.63704	0.123:0.0:0.877:0.0	.	182;299;278	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	F	230;278;299;230;182	ENSP00000402165:L230F;ENSP00000411099:L278F;ENSP00000354089:L299F;ENSP00000428113:L230F;ENSP00000409222:L182F	ENSP00000354089:L299F	L	-	1	0	TLK1	171614831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.755000	0.68750	2.854000	0.98071	0.655000	0.94253	CTT		0.313	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
DCAF17	80067	broad.mit.edu	37	2	172333405	172333405	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172333405C>A	ENST00000375255.3	+	11	1454	c.1127C>A	c.(1126-1128)tCt>tAt	p.S376Y	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	376					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.S376Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						AATAATAGTTCTCAGCATCAG	0.343																																					p.S376Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1127A	2						.						74.0	76.0	75.0					2																	172333405		2203	4300	6503	172041651	SO:0001583	missense	80067	exon11			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1127C>A	2.37:g.172333405C>A	ENSP00000364404:p.Ser376Tyr		172041651	NM_025000	B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.721|0.721	-0.783455|-0.783455	0.02907|0.02907	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000339506;ENST00000431110|ENST00000375255;ENST00000429466	.|T	.|0.48201	.|0.82	5.55|5.55	1.33|1.33	0.21861|0.21861	.|.	.|0.919351	.|0.09484	.|N	.|0.795959	T|T	0.22044|0.22044	0.0531|0.0531	N|N	0.16478|0.16478	0.41|0.41	0.21256|0.21256	N|N	0.999745|0.999745	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.27673|0.27673	-1.0067|-1.0067	5|10	.|0.02654	.|T	.|1	-0.2733|-0.2733	1.3583|1.3583	0.02186|0.02186	0.238:0.3853:0.2081:0.1687|0.238:0.3853:0.2081:0.1687	.|.	.|376	.|Q5H9S7	.|DCA17_HUMAN	I|Y	127;78|376;126	.|ENSP00000364404:S376Y	.|ENSP00000364404:S376Y	L|S	+|+	1|2	0|0	DCAF17|DCAF17	172041651|172041651	0.903000|0.903000	0.30736|0.30736	0.989000|0.989000	0.46669|0.46669	0.975000|0.975000	0.68041|0.68041	1.139000|1.139000	0.31504|0.31504	-0.059000|-0.059000	0.13154|0.13154	-0.317000|-0.317000	0.08691|0.08691	CTC|TCT		0.343	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	
CYBRD1	79901	broad.mit.edu	37	2	172398157	172398157	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172398157C>A	ENST00000321348.4	+	2	454	c.256C>A	c.(256-258)Cat>Aat	p.H86N	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.H28N	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	86	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.H86N(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GAAATCCATCCATGCAGGGTT	0.443																																					p.H86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256A	2						.						172.0	157.0	162.0					2																	172398157		2203	4300	6503	172106403	SO:0001583	missense	79901	exon2			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.256C>A	2.37:g.172398157C>A	ENSP00000319141:p.His86Asn		172106403	NM_024843	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	ENST00000321348.4	37	CCDS2244.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408356	0.83340	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	D;D;D	0.83673	-1.75;-1.75;-1.75	5.38	5.38	0.77491	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95909	0.8921	10	0.87932	D	0	-13.982	19.1378	0.93435	0.0:1.0:0.0:0.0	.	86	Q53TN4	CYBR1_HUMAN	N	28;86;47	ENSP00000386739:H28N;ENSP00000319141:H86N;ENSP00000402242:H47N	ENSP00000319141:H86N	H	+	1	0	CYBRD1	172106403	1.000000	0.71417	0.999000	0.59377	0.423000	0.31445	7.757000	0.85209	2.521000	0.84997	0.650000	0.86243	CAT		0.443	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843	
DYNC1I2	1781	broad.mit.edu	37	2	172584373	172584373	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172584373C>A	ENST00000397119.3	+	12	1206	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L341I|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L321I|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L347I|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L347I|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L339I|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L339I|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L341I|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L321I|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.L347I|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L321I	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	347					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.L347I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TCATCCAAATCTTGTTGTTGG	0.393																																					p.L347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039A	2						.						81.0	75.0	77.0					2																	172584373		1868	4113	5981	172292619	SO:0001583	missense	1781	exon12			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1039C>A	2.37:g.172584373C>A	ENSP00000380308:p.Leu347Ile		172292619	NM_001378	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685154	0.47991	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	6.01	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.061356	0.64402	D	0.000003	T	0.39989	0.1099	M	0.70903	2.155	0.58432	D	0.999991	B;P;P;P;P;P	0.50943	0.043;0.94;0.742;0.742;0.742;0.894	B;B;P;P;P;P	0.48425	0.034;0.303;0.577;0.577;0.577;0.476	T	0.26018	-1.0115	10	0.49607	T	0.09	-12.9809	11.0199	0.47711	0.0:0.7518:0.0:0.2482	.	70;339;341;321;321;347	B4DX93;B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;.;DC1I2_HUMAN	I	321;347;341;347;339;321;321;341;347;347;339	ENSP00000339430:L321I;ENSP00000433791:L347I;ENSP00000263811:L341I;ENSP00000380308:L347I;ENSP00000386522:L339I;ENSP00000423339:L321I;ENSP00000386397:L321I;ENSP00000386591:L341I;ENSP00000386415:L347I;ENSP00000386886:L347I;ENSP00000350692:L339I	ENSP00000263811:L341I	L	+	1	0	DYNC1I2	172292619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.221000	0.42917	0.884000	0.36064	0.650000	0.86243	CTT		0.393	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378	
SLC25A12	8604	broad.mit.edu	37	2	172700943	172700943	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172700943C>T	ENST00000422440.2	-	5	438	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.R27Q	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	134	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.R134Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAATGCAGTCGGATAAATTC	0.333																																					p.R134Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G401A	2						.						124.0	133.0	130.0					2																	172700943		2203	4300	6503	172409189	SO:0001583	missense	8604	exon5			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.401G>A	2.37:g.172700943C>T	ENSP00000388658:p.Arg134Gln		172409189	NM_003705	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679187	0.29783	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.77620	-1.11;-1.1	5.8	5.8	0.92144	EF-hand-like domain (1);	0.063732	0.64402	D	0.000007	T	0.65873	0.2733	N	0.16233	0.39	0.58432	D	0.99999	B;B	0.23806	0.091;0.04	B;B	0.13407	0.009;0.009	T	0.59573	-0.7429	10	0.22109	T	0.4	-7.1792	20.0706	0.97721	0.0:1.0:0.0:0.0	.	27;134	B3KR64;O75746	.;CMC1_HUMAN	Q	134;27	ENSP00000388658:R134Q;ENSP00000376371:R27Q	ENSP00000376371:R27Q	R	-	2	0	SLC25A12	172409189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.927000	0.63440	2.744000	0.94065	0.655000	0.94253	CGA		0.333	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	
HAT1	8520	broad.mit.edu	37	2	172782063	172782063	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172782063G>T	ENST00000264108.4	+	2	60	c.24G>T	c.(22-24)gaG>gaT	p.E8D	HAT1_ENST00000392584.1_5'UTR|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	8					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.E8D(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTGCTATGGAGAAATTTTTGG	0.343																																					p.E8D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G24T	2						.						94.0	97.0	96.0					2																	172782063		2203	4300	6503	172490309	SO:0001583	missense	8520	exon2			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.24G>T	2.37:g.172782063G>T	ENSP00000264108:p.Glu8Asp		172490309	NM_003642	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641283	0.47153	.	.	ENSG00000128708	ENST00000264108	.	.	.	5.88	2.76	0.32466	.	0.253697	0.32918	N	0.005493	T	0.55321	0.1913	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.55496	-0.8132	9	0.87932	D	0	-25.5205	5.6699	0.17717	0.3645:0.0:0.6355:0.0	.	8	O14929	HAT1_HUMAN	D	8	.	ENSP00000264108:E8D	E	+	3	2	HAT1	172490309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.922000	0.28734	0.825000	0.34637	0.655000	0.94253	GAG		0.343	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642	
HAT1	8520	broad.mit.edu	37	2	172821966	172821966	+	Silent	SNP	C	C	T	rs533334266		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:172821966C>T	ENST00000264108.4	+	5	453	c.417C>T	c.(415-417)ttC>ttT	p.F139F	HAT1_ENST00000392584.1_Silent_p.F54F|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	139					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.F139F(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAAGCCATTCGGAACCTTAC	0.348																																					p.F139F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	2						.						70.0	70.0	70.0					2																	172821966		2203	4300	6503	172530212	SO:0001819	synonymous_variant	8520	exon5			AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.417C>T	2.37:g.172821966C>T			172530212	NM_003642	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Silent	SNP	ENST00000264108.4	37	CCDS2245.1																																																																																				0.348	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642	
ITGA6	3655	broad.mit.edu	37	2	173333961	173333961	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:173333961G>T	ENST00000264106.6	+	4	699	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	ITGA6_ENST00000375221.2_Missense_Mutation_p.D166Y|ITGA6_ENST00000264107.7_Missense_Mutation_p.D166Y|ITGA6_ENST00000409080.1_Missense_Mutation_p.D166Y|ITGA6_ENST00000409532.1_Missense_Mutation_p.D52Y|ITGA6_ENST00000343713.4_Missense_Mutation_p.D166Y			P23229	ITA6_HUMAN	integrin, alpha 6	166					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.D166N(1)|p.D166Y(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATTGAAGACGATATGGATGG	0.458																																					p.D166Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G496T	2						.						179.0	172.0	174.0					2																	173333961		2203	4300	6503	173042207	SO:0001583	missense	3655	exon4				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.496G>T	2.37:g.173333961G>T	ENSP00000264106:p.Asp166Tyr		173042207	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.983076	0.74474	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.199493	0.52532	D	0.000078	T	0.52517	0.1739	M	0.77820	2.39	0.80722	D	1	B;B;B	0.31026	0.304;0.056;0.056	B;B;B	0.32677	0.15;0.15;0.118	T	0.53676	-0.8405	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	166;166;166	P23229-4;G5E9H1;P23229-2	.;.;.	Y	52;52;166;166;166;166;166;166;166	ENSP00000413470:D52Y;ENSP00000386614:D52Y;ENSP00000264107:D166Y;ENSP00000264106:D166Y;ENSP00000364369:D166Y;ENSP00000341078:D166Y;ENSP00000386896:D166Y;ENSP00000406694:D166Y;ENSP00000394169:D166Y	ENSP00000264106:D166Y	D	+	1	0	ITGA6	173042207	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	6.695000	0.74593	2.941000	0.99782	0.655000	0.94253	GAT		0.458	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
ITGA6	3655	broad.mit.edu	37	2	173356032	173356032	+	Silent	SNP	G	G	A	rs61757097	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:173356032G>A	ENST00000264106.6	+	23	3182	c.2979G>A	c.(2977-2979)tcG>tcA	p.S993S	ITGA6_ENST00000375221.2_Silent_p.S993S|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_Silent_p.S954S|ITGA6_ENST00000409080.1_Silent_p.S954S|ITGA6_ENST00000409532.1_Silent_p.S835S|ITGA6_ENST00000343713.4_Silent_p.S949S			P23229	ITA6_HUMAN	integrin, alpha 6	993					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.S954S(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTTGCGCTCGAGGTTATGGA	0.488																																					p.S954S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2862A	2						.						137.0	134.0	135.0					2																	173356032		2203	4300	6503	173064278	SO:0001819	synonymous_variant	3655	exon22				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2979G>A	2.37:g.173356032G>A			173064278	NM_000210	B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																					0.488	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
PDK1	5163	broad.mit.edu	37	2	173460578	173460578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:173460578G>T	ENST00000282077.3	+	11	1374	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*	PDK1_ENST00000544863.1_Nonsense_Mutation_p.E243*|PDK1_ENST00000410055.1_Nonsense_Mutation_p.E398*|PDK1_ENST00000543905.1_Nonsense_Mutation_p.E322*|PDK1_ENST00000392571.2_Nonsense_Mutation_p.E418*			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	398					cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.E398*(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGACTCAATAGAAAGACTCCC	0.413									Autosomal Dominant Polycystic Kidney Disease																												p.E398X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1192T	2						.						62.0	58.0	60.0					2																	173460578		2203	4300	6503	173168824	SO:0001587	stop_gained	5163	exon11	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1192G>T	2.37:g.173460578G>T	ENSP00000282077:p.Glu398*		173168824	NM_002610	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Nonsense_Mutation	SNP	ENST00000282077.3	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197320	0.94960	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	.	.	.	5.94	5.94	0.96194	.	0.091706	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2097	20.3736	0.98901	0.0:0.0:1.0:0.0	.	.	.	.	X	322;243;398;418;398	.	ENSP00000282077:E398X	E	+	1	0	PDK1	173168824	1.000000	0.71417	0.988000	0.46212	0.412000	0.31113	9.741000	0.98843	2.820000	0.97059	0.650000	0.86243	GAA		0.413	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610	
ZAK	51776	broad.mit.edu	37	2	174034590	174034590	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:174034590C>A	ENST00000375213.3	+	3	295	c.217C>A	c.(217-219)Ctt>Att	p.L73I	MLTK_ENST00000338983.3_Missense_Mutation_p.L73I|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000431503.2_De_novo_Start_OutOfFrame|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000539448.1_Missense_Mutation_p.L73I|MLTK_ENST00000409176.2_Missense_Mutation_p.L73I	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.L73I(2)									TGGAGTAATTCTTGAACCTCC	0.338																																					p.L73I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C217A	2						.						140.0	137.0	138.0					2																	174034590		2203	4300	6503	173742836	SO:0001583	missense	51776	exon3																														ENST00000375213.3:c.217C>A	2.37:g.174034590C>A	ENSP00000364361:p.Leu73Ile		173742836	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117980	0.37339	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.67	5.67	0.87782	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117867	0.64402	D	0.000020	T	0.66829	0.2829	N	0.08118	0	0.80722	D	1	B;B;B;B	0.13145	0.001;0.007;0.002;0.001	B;B;B;B	0.16722	0.004;0.016;0.007;0.003	T	0.62685	-0.6802	10	0.12430	T	0.62	.	14.242	0.65963	0.1866:0.8133:0.0:0.0	.	73;73;73;73	Q9NYL2-2;Q9NYL2;D4Q8H0;Q9NYL2-3	.;MLTK_HUMAN;.;.	I	73	ENSP00000439414:L73I;ENSP00000387259:L73I;ENSP00000340257:L73I;ENSP00000364361:L73I;ENSP00000411923:L73I	ENSP00000340257:L73I	L	+	1	0	AC013461.1	173742836	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.827000	0.48112	2.663000	0.90544	0.557000	0.71058	CTT		0.338	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
ZAK	51776	broad.mit.edu	37	2	174055770	174055770	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:174055770C>A	ENST00000375213.3	+	7	525	c.447C>A	c.(445-447)atC>atA	p.I149I	MLTK_ENST00000338983.3_Silent_p.I149I|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000431503.2_Silent_p.I48I|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000539448.1_Silent_p.I149I|MLTK_ENST00000409176.2_Silent_p.I149I	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.I149I(2)									TTTCTCAGATCTGTGACTTTG	0.388																																					p.I149I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C447A	2						.						174.0	165.0	168.0					2																	174055770		2203	4300	6503	173764016	SO:0001819	synonymous_variant	51776	exon7																														ENST00000375213.3:c.447C>A	2.37:g.174055770C>A			173764016	NM_016653	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	ENST00000375213.3	37	CCDS42777.1																																																																																				0.388	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
ZAK	51776	broad.mit.edu	37	2	174086134	174086134	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:174086134C>A	ENST00000375213.3	+	11	1065				MLTK_ENST00000431503.2_Missense_Mutation_p.S314Y|MLTK_ENST00000338983.3_Missense_Mutation_p.S415Y|MLTK_ENST00000539448.1_Missense_Mutation_p.S415Y|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.S415Y(1)									AAAACCACATCTAAGAGAAGG	0.458																																					p.S415Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1244A	2						.						95.0	94.0	94.0					2																	174086134		2203	4300	6503	173794380	SO:0001627	intron_variant	51776	exon12																														ENST00000375213.3:c.987+4156C>A	2.37:g.174086134C>A			173794380	NM_133646	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Intron	SNP	ENST00000375213.3	37	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487867	0.64074	.	.	ENSG00000091436	ENST00000539448;ENST00000338983;ENST00000431503	T;T;D	0.83335	-1.24;-1.24;-1.71	5.89	5.0	0.66597	.	.	.	.	.	T	0.76040	0.3932	N	0.14661	0.345	0.28542	N	0.912034	B;P	0.50943	0.34;0.94	B;P	0.44860	0.121;0.462	T	0.73228	-0.4049	9	0.87932	D	0	.	16.7161	0.85397	0.0:0.8664:0.1336:0.0	.	415;415	A8K710;D4Q8H0	.;.	Y	415;415;314	ENSP00000439414:S415Y;ENSP00000340257:S415Y;ENSP00000399787:S314Y	ENSP00000340257:S415Y	S	+	2	0	AC013461.1	173794380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.991000	0.49409	1.458000	0.47871	0.655000	0.94253	TCT		0.458	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1		
SP3	6670	broad.mit.edu	37	2	174820423	174820423	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:174820423C>T	ENST00000310015.6	-	4	1347	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SP3_ENST00000418194.2_Missense_Mutation_p.D205N|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Missense_Mutation_p.D220N	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	273					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.D273N(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GAATCTAGATCGACACTATTG	0.438																																					p.D270N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	2						.						89.0	87.0	88.0					2																	174820423		2203	4300	6503	174528669	SO:0001583	missense	6670	exon4			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.817G>A	2.37:g.174820423C>T	ENSP00000310301:p.Asp273Asn		174528669	NM_001172712	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982119	0.53827	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05139	3.49;3.49;3.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.53249	1.67	0.80722	D	1	D;P;D	0.89917	1.0;0.921;1.0	D;B;D	0.83275	0.99;0.137;0.996	T	0.03852	-1.0998	10	0.13470	T	0.59	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	270;273;220	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	N	273;220;205	ENSP00000310301:D273N;ENSP00000388903:D220N;ENSP00000406140:D205N	ENSP00000310301:D273N	D	-	1	0	SP3	174528669	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.461000	0.80834	2.730000	0.93505	0.563000	0.77884	GAT		0.438	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
GPR155	151556	broad.mit.edu	37	2	175309901	175309901	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175309901G>T	ENST00000392552.2	-	13	2255	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	GPR155_ENST00000295500.4_Missense_Mutation_p.L673I|GPR155_ENST00000392551.2_Missense_Mutation_p.L673I|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	673					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L673I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAACTGGAAAGATTCTGTAAA	0.343																																					p.L673I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2017A	2						.						39.0	40.0	40.0					2																	175309901		2203	4300	6503	175018147	SO:0001583	missense	151556	exon14			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2017C>A	2.37:g.175309901G>T	ENSP00000376335:p.Leu673Ile		175018147	NM_001033045	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996517	0.35226	.	.	ENSG00000163328	ENST00000392552;ENST00000510236;ENST00000392551;ENST00000295500	T;T;T	0.57752	0.38;0.38;0.38	5.54	4.67	0.58626	.	0.116810	0.64402	N	0.000012	T	0.43456	0.1248	L	0.43923	1.385	0.47183	D	0.999349	B;B	0.25048	0.117;0.013	B;B	0.23018	0.043;0.03	T	0.36890	-0.9729	10	0.48119	T	0.1	-13.0178	10.023	0.42055	0.0724:0.1374:0.7902:0.0	.	153;673	F5H464;Q7Z3F1	.;GP155_HUMAN	I	673;153;673;673	ENSP00000376335:L673I;ENSP00000376334:L673I;ENSP00000295500:L673I	ENSP00000295500:L673I	L	-	1	0	GPR155	175018147	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.849000	0.55910	1.356000	0.45884	0.551000	0.68910	CTT		0.343	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
GPR155	151556	broad.mit.edu	37	2	175333667	175333667	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175333667A>G	ENST00000392552.2	-	5	1393	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D	GPR155_ENST00000295500.4_Silent_p.D385D|GPR155_ENST00000392551.2_Silent_p.D385D	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	385					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D385D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATACTTATATCAAAACTAA	0.423																																					p.D385D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1155C	2						.						189.0	176.0	181.0					2																	175333667		2203	4300	6503	175041913	SO:0001819	synonymous_variant	151556	exon6			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1155T>C	2.37:g.175333667A>G			175041913	NM_001033045	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	CCDS2259.1																																																																																				0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
GPR155	151556	broad.mit.edu	37	2	175337936	175337936	+	Missense_Mutation	SNP	A	A	C	rs61735115	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175337936A>C	ENST00000392552.2	-	3	855	c.617T>G	c.(616-618)aTt>aGt	p.I206S	GPR155_ENST00000295500.4_Missense_Mutation_p.I206S|GPR155_ENST00000392551.2_Missense_Mutation_p.I206S	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	206					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I206S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGTCCCACAATTTTTATTTT	0.358																																					p.I206S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T617G	2						.						45.0	49.0	48.0					2																	175337936		2202	4299	6501	175046182	SO:0001583	missense	151556	exon4			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.617T>G	2.37:g.175337936A>C	ENSP00000376335:p.Ile206Ser		175046182	NM_001033045	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.399016	0.62177	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.47528	0.84;0.84;0.84	5.54	5.54	0.83059	.	0.045228	0.85682	D	0.000000	T	0.38401	0.1039	N	0.16903	0.455	0.80722	D	1	P	0.49635	0.926	P	0.44772	0.46	T	0.36915	-0.9728	10	0.54805	T	0.06	-17.7487	15.6788	0.77352	1.0:0.0:0.0:0.0	.	206	Q7Z3F1	GP155_HUMAN	S	206	ENSP00000376335:I206S;ENSP00000376334:I206S;ENSP00000295500:I206S	ENSP00000295500:I206S	I	-	2	0	GPR155	175046182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.696000	0.91302	2.084000	0.62774	0.533000	0.62120	ATT		0.358	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529	
WIPF1	7456	broad.mit.edu	37	2	175436460	175436460	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175436460G>T	ENST00000392547.2	-	5	1172	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P358H|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P358H|WIPF1_ENST00000392546.2_Missense_Mutation_p.P358H|WIPF1_ENST00000409891.1_Missense_Mutation_p.P358H|WIPF1_ENST00000409415.3_Missense_Mutation_p.P358H|WIPF1_ENST00000467149.1_5'Flank	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	358	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P358H(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGCGGGGGAGGAAGAGGACC	0.617																																					p.P358H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1073A	2						.						66.0	70.0	69.0					2																	175436460		2203	4300	6503	175144706	SO:0001583	missense	7456	exon5			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1073C>A	2.37:g.175436460G>T	ENSP00000376330:p.Pro358His		175144706	NM_001077269	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269133	0.40095	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.61274	0.84;0.82;0.84;0.84;0.59;0.12	4.85	3.97	0.46021	.	0.174971	0.51477	D	0.000093	T	0.74824	0.3767	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.70935	0.971;0.963;0.971;0.936	T	0.78074	-0.2346	10	0.72032	D	0.01	.	12.6233	0.56616	0.0815:0.0:0.9185:0.0	.	358;358;358;358	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	H	358	ENSP00000376330:P358H;ENSP00000272746:P358H;ENSP00000352802:P358H;ENSP00000376329:P358H;ENSP00000386431:P358H;ENSP00000387150:P358H	ENSP00000272746:P358H	P	-	2	0	WIPF1	175144706	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	8.522000	0.90573	1.044000	0.40200	-0.310000	0.09108	CCT		0.617	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
WIPF1	7456	broad.mit.edu	37	2	175450269	175450269	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175450269C>T	ENST00000392547.2	-	2	132	c.33G>A	c.(31-33)ccG>ccA	p.P11P	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P11P|WIPF1_ENST00000410117.1_Silent_p.P11P|AC018890.6_ENST00000442996.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P11P|WIPF1_ENST00000392546.2_Silent_p.P11P|WIPF1_ENST00000409891.1_Silent_p.P11P|WIPF1_ENST00000409415.3_Silent_p.P11P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	11	Poly-Pro.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P11P(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACGTCGGGGGCGGCGGGGGTG	0.493																																					p.P11P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G33A	2						.						27.0	30.0	29.0					2																	175450269		2203	4300	6503	175158515	SO:0001819	synonymous_variant	7456	exon2			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.33G>A	2.37:g.175450269C>T			175158515	NM_001077269	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	CCDS2260.1																																																																																				0.493	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387	
RAD51AP2	729475	broad.mit.edu	37	2	17697126	17697126	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:17697126C>A	ENST00000399080.2	-	1	2580	c.2557G>T	c.(2557-2559)Gat>Tat	p.D853Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	853								p.D853Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTTAGTATCTTTGTGAACT	0.299																																					p.D853Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2557T	2						.						48.0	46.0	46.0					2																	17697126		1810	4067	5877	17560607	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2557G>T	2.37:g.17697126C>A	ENSP00000382030:p.Asp853Tyr		17560607	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	8.964	0.971180	0.18659	.	.	ENSG00000214842	ENST00000399080	T	0.26957	1.7	5.05	1.1	0.20463	.	.	.	.	.	T	0.28896	0.0717	L	0.27053	0.805	0.09310	N	0.999999	D	0.57571	0.98	P	0.59948	0.866	T	0.11227	-1.0596	9	0.59425	D	0.04	-1.0327	6.3895	0.21579	0.0:0.558:0.2759:0.1661	.	853	Q09MP3	R51A2_HUMAN	Y	853	ENSP00000382030:D853Y	ENSP00000382030:D853Y	D	-	1	0	RAD51AP2	17560607	0.000000	0.05858	0.007000	0.13788	0.061000	0.15899	0.133000	0.15912	0.237000	0.21200	0.655000	0.94253	GAT		0.299	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
RAD51AP2	729475	broad.mit.edu	37	2	17697924	17697924	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:17697924A>C	ENST00000399080.2	-	1	1782	c.1759T>G	c.(1759-1761)Ttg>Gtg	p.L587V		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	587								p.L587V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATTGAGCAAAAAAGCTATG	0.254																																					p.L587V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1759G	2						.						20.0	20.0	20.0					2																	17697924		1773	3993	5766	17561405	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1759T>G	2.37:g.17697924A>C	ENSP00000382030:p.Leu587Val		17561405	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.704096	0.48412	.	.	ENSG00000214842	ENST00000399080	T	0.28454	1.61	3.74	-0.62	0.11567	.	.	.	.	.	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	P	0.37330	0.59	B	0.40410	0.328	T	0.22661	-1.0210	9	0.87932	D	0	0.9681	2.1806	0.03873	0.5905:0.1592:0.0957:0.1546	.	587	Q09MP3	R51A2_HUMAN	V	587	ENSP00000382030:L587V	ENSP00000382030:L587V	L	-	1	2	RAD51AP2	17561405	0.001000	0.12720	0.005000	0.12908	0.560000	0.35617	0.428000	0.21395	0.111000	0.17947	0.383000	0.25322	TTG		0.254	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
RAD51AP2	729475	broad.mit.edu	37	2	17698599	17698599	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:17698599C>T	ENST00000399080.2	-	1	1107	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	362								p.D362N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTAGAGTCTCTTACATTA	0.378																																					p.D362N												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G1084A	2						.						55.0	54.0	54.0					2																	17698599		1824	4082	5906	17562080	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1084G>A	2.37:g.17698599C>T	ENSP00000382030:p.Asp362Asn		17562080	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.289051	0.01387	.	.	ENSG00000214842	ENST00000399080	T	0.25414	1.8	4.57	-1.29	0.09288	.	.	.	.	.	T	0.11965	0.0291	N	0.17082	0.46	0.09310	N	1	B	0.20780	0.048	B	0.24541	0.054	T	0.31586	-0.9938	9	0.30078	T	0.28	3.6165	1.669	0.02808	0.2099:0.2515:0.3617:0.1769	.	362	Q09MP3	R51A2_HUMAN	N	362	ENSP00000382030:D362N	ENSP00000382030:D362N	D	-	1	0	RAD51AP2	17562080	0.000000	0.05858	0.004000	0.12327	0.088000	0.18126	-0.991000	0.03728	-0.058000	0.13177	0.655000	0.94253	GAC		0.378	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
RAD51AP2	729475	broad.mit.edu	37	2	17699489	17699489	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:17699489T>C	ENST00000399080.2	-	1	217	c.194A>G	c.(193-195)gAg>gGg	p.E65G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	65								p.E65G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGGGGACAACTCCCAGACTTT	0.537																																					p.E65G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A194G	2						.						78.0	80.0	79.0					2																	17699489		1889	4108	5997	17562970	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.194A>G	2.37:g.17699489T>C	ENSP00000382030:p.Glu65Gly		17562970	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213618	0.39102	.	.	ENSG00000214842	ENST00000399080	T	0.37058	1.22	3.72	-0.187	0.13268	.	.	.	.	.	T	0.28134	0.0694	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.49085	0.6	T	0.14868	-1.0457	9	0.72032	D	0.01	-6.7555	4.5229	0.11968	0.0:0.1111:0.3992:0.4897	.	65	Q09MP3	R51A2_HUMAN	G	65	ENSP00000382030:E65G	ENSP00000382030:E65G	E	-	2	0	RAD51AP2	17562970	0.917000	0.31117	0.260000	0.24451	0.136000	0.21042	0.552000	0.23376	-0.026000	0.13895	0.482000	0.46254	GAG		0.537	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
CHRNA1	1134	broad.mit.edu	37	2	175624274	175624274	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175624274T>C	ENST00000261007.5	-	2	197	c.131A>G	c.(130-132)gAc>gGc	p.D44G	CHRNA1_ENST00000348749.5_Missense_Mutation_p.D44G|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D44G|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D44G|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.D44G	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.D44G(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTGGCGGTGGTCTTCCACTGG	0.602																																					p.D44G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131G	2						.						128.0	125.0	126.0					2																	175624274		2203	4300	6503	175332520	SO:0001583	missense	1134	exon2			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.131A>G	2.37:g.175624274T>C	ENSP00000261007:p.Asp44Gly		175332520	NM_000079	B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383971	0.82792	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.91	5.91	0.95273	Neurotransmitter-gated ion-channel ligand-binding (3);	0.154081	0.64402	D	0.000013	T	0.76933	0.4057	L	0.45470	1.425	0.36011	D	0.838067	B;B;B	0.29270	0.083;0.033;0.24	B;B;B	0.39935	0.064;0.074;0.314	T	0.81684	-0.0821	10	0.87932	D	0	.	12.2232	0.54445	0.0:0.0:0.1419:0.8581	.	44;44;44	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	G	44	ENSP00000261008:D44G;ENSP00000261007:D44G;ENSP00000387026:D44G;ENSP00000386611:D44G;ENSP00000386684:D44G	ENSP00000261007:D44G	D	-	2	0	CHRNA1	175332520	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.145000	0.71769	2.263000	0.75096	0.379000	0.24179	GAC		0.602	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
ATF2	1386	broad.mit.edu	37	2	175957926	175957926	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:175957926C>A	ENST00000264110.2	-	12	1346	c.1048G>T	c.(1048-1050)Gat>Tat	p.D350Y	ATF2_ENST00000345739.5_Missense_Mutation_p.D292Y|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409635.1_Missense_Mutation_p.D292Y|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000426833.3_Missense_Mutation_p.D332Y|ATF2_ENST00000409437.1_Missense_Mutation_p.D234Y|ATF2_ENST00000392544.1_Missense_Mutation_p.D350Y|ATF2_ENST00000538946.1_Missense_Mutation_p.D332Y	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	350					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D350Y(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TCATCAGGATCTTCGTTAGCT	0.423																																					p.D350Y	Pancreas(17;87 705 4534 15538 30988)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1048T	2						.						106.0	97.0	100.0					2																	175957926		2203	4300	6503	175666172	SO:0001583	missense	1386	exon12			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1048G>T	2.37:g.175957926C>A	ENSP00000264110:p.Asp350Tyr		175666172	NM_001880	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.301440|4.301440	0.81136|0.81136	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946|ENST00000435004	D;T;T;T;D;D;T|.	0.81908|.	-1.55;0.01;-0.9;0.01;-1.55;-1.52;-1.06|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Basic-leucine zipper (bZIP) transcription factor (1);|.	0.049534|.	0.85682|.	D|.	0.000000|.	D|D	0.85733|0.85733	0.5765|0.5765	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.996|.	D;D;D;P|.	0.79108|.	0.922;0.99;0.992;0.832|.	D|D	0.87593|0.87593	0.2492|0.2492	10|5	0.87932|.	D|.	0|.	-51.7631|-51.7631	19.7806|19.7806	0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332;327;292;350|.	A4D7U4;B3KY57;Q3B7B7;P15336|.	.;.;.;ATF2_HUMAN|.	Y|N	350;292;327;234;292;350;332;332|178	ENSP00000264110:D350Y;ENSP00000340576:D292Y;ENSP00000386326:D234Y;ENSP00000387093:D292Y;ENSP00000376327:D350Y;ENSP00000407911:D332Y;ENSP00000437952:D332Y|.	ENSP00000264110:D350Y|.	D|K	-|-	1|3	0|2	ATF2|ATF2	175666172|175666172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.725000|5.725000	0.68507|0.68507	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GAT|AAG		0.423	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1	NM_001880	
KIAA1715	80856	broad.mit.edu	37	2	176835501	176835501	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176835501C>A	ENST00000272748.4	-	6	595	c.348G>T	c.(346-348)agG>agT	p.R116S	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R116S|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R41S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	116					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.R116S(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTATTTTTTTCCTCTGGGATT	0.234																																					p.R116S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	2						.						9.0	9.0	9.0					2																	176835501		1998	4102	6100	176543747	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.348G>T	2.37:g.176835501C>A	ENSP00000272748:p.Arg116Ser		176543747	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678874	0.47886	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	4.96	4.96	0.65561	.	0.087235	0.85682	D	0.000000	T	0.44265	0.1285	L	0.34521	1.04	0.34813	D	0.737934	B;B;P;B	0.35328	0.43;0.139;0.495;0.031	B;B;B;B	0.33960	0.173;0.055;0.077;0.034	T	0.62096	-0.6926	9	0.87932	D	0	-1.781	16.0512	0.80763	0.0:1.0:0.0:0.0	.	118;116;113;116	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	S	116;118;116;41;111	.	ENSP00000272748:R116S	R	-	3	2	KIAA1715	176543747	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.503000	0.53340	2.450000	0.82876	0.591000	0.81541	AGG		0.234	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	
KIAA1715	80856	broad.mit.edu	37	2	176857128	176857128	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176857128C>A	ENST00000272748.4	-	4	335	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	KIAA1715_ENST00000466445.1_5'Flank|KIAA1715_ENST00000544803.1_Nonsense_Mutation_p.E30*|KIAA1715_ENST00000535310.1_5'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	30					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.E30*(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCCCTAAATTCTTCCAATGCT	0.259																																					p.E30X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G88T	2						.						65.0	69.0	68.0					2																	176857128		2201	4297	6498	176565374	SO:0001587	stop_gained	80856	exon4			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.88G>T	2.37:g.176857128C>A	ENSP00000272748:p.Glu30*		176565374	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Nonsense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539442	0.96474	.	.	ENSG00000144320	ENST00000272748;ENST00000544803;ENST00000392540;ENST00000445472	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7002	19.005	0.92846	0.0:1.0:0.0:0.0	.	.	.	.	X	30;30;25;30	.	ENSP00000272748:E30X	E	-	1	0	KIAA1715	176565374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	2.592000	0.87571	0.460000	0.39030	GAA		0.259	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	
HOXD10	3236	broad.mit.edu	37	2	176982072	176982072	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176982072G>A	ENST00000249501.4	+	1	766	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	171					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TAATAGCCCCGAAGGCAGCTC	0.572																																					p.E171K												.	.	0			c.G511A	2						.						54.0	65.0	62.0					2																	176982072		2203	4300	6503	176690318	SO:0001583	missense	3236	exon1				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.511G>A	2.37:g.176982072G>A	ENSP00000249501:p.Glu171Lys		176690318	NM_002148	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.454540	0.26161	.	.	ENSG00000128710	ENST00000249501	D	0.93712	-3.27	5.99	5.99	0.97316	.	0.187227	0.64402	D	0.000019	D	0.91246	0.7241	M	0.75447	2.3	0.42178	D	0.991675	P	0.46656	0.882	B	0.35607	0.206	D	0.89576	0.3817	10	0.06494	T	0.89	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	171	P28358	HXD10_HUMAN	K	171	ENSP00000249501:E171K	ENSP00000249501:E171K	E	+	1	0	HOXD10	176690318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.847000	0.97988	0.655000	0.94253	GAA		0.572	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2		
HOXD9	3235	broad.mit.edu	37	2	176988747	176988747	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176988747G>T	ENST00000249499.6	+	2	1312	c.903G>T	c.(901-903)gaG>gaT	p.E301D	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	301					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E291D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTGAGCTGGAGAAAGAATTCC	0.547																																					p.E301D	GBM(47;924 952 7959 9248 12176)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G903T	2						.						96.0	107.0	104.0					2																	176988747		2203	4300	6503	176696993	SO:0001583	missense	3235	exon2				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.903G>T	2.37:g.176988747G>T	ENSP00000249499:p.Glu301Asp		176696993	NM_014213	Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631965	0.67015	.	.	ENSG00000128709	ENST00000249499	D	0.97791	-4.54	5.6	4.61	0.57282	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98998	0.9658	H	0.98388	4.22	0.50467	D	0.999878	P	0.51351	0.944	D	0.74674	0.984	D	0.99164	1.0862	10	0.87932	D	0	.	4.4831	0.11776	0.2823:0.0:0.7177:0.0	.	301	P28356	HXD9_HUMAN	D	301	ENSP00000249499:E301D	ENSP00000249499:E301D	E	+	3	2	HOXD9	176696993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.776000	0.47709	2.637000	0.89404	0.650000	0.86243	GAG		0.547	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4		
HOXD9	3235	broad.mit.edu	37	2	176988882	176988882	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176988882G>T	ENST00000249499.6	+	2	1447	c.1038G>T	c.(1036-1038)gaG>gaT	p.E346D	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	346					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E336D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGAGCAAGGAGAAATGCCCCA	0.527																																					p.E346D	GBM(47;924 952 7959 9248 12176)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1038T	2						.						64.0	78.0	73.0					2																	176988882		2203	4300	6503	176697128	SO:0001583	missense	3235	exon2				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.1038G>T	2.37:g.176988882G>T	ENSP00000249499:p.Glu346Asp		176697128	NM_014213	Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205215	0.22205	.	.	ENSG00000128709	ENST00000249499	D	0.93953	-3.32	5.7	4.63	0.57726	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.231848	0.30293	N	0.009951	D	0.86431	0.5931	N	0.21324	0.655	0.43896	D	0.996523	P	0.37636	0.603	B	0.34489	0.184	D	0.84578	0.0659	10	0.18710	T	0.47	.	14.3623	0.66782	0.0849:0.0:0.9151:0.0	.	346	P28356	HXD9_HUMAN	D	346	ENSP00000249499:E346D	ENSP00000249499:E346D	E	+	3	2	HOXD9	176697128	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.253000	0.51469	2.694000	0.91930	0.650000	0.86243	GAG		0.527	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4		
HOXD3	3232	broad.mit.edu	37	2	177036549	177036549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:177036549C>A	ENST00000468418.3	+	4	2936	c.846C>A	c.(844-846)taC>taA	p.Y282*	HOXD3_ENST00000249440.3_Nonsense_Mutation_p.Y282*|HOXD-AS1_ENST00000416928.2_RNA|HOXD3_ENST00000410016.1_Nonsense_Mutation_p.Y282*			P31249	HXD3_HUMAN	homeobox D3	282					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y282*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACGTGGCCTACTCCGGCCAGC	0.697																																					p.Y282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C846A	2						.						13.0	15.0	15.0					2																	177036549		2192	4281	6473	176744795	SO:0001587	stop_gained	3232	exon3				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.846C>A	2.37:g.177036549C>A	ENSP00000424734:p.Tyr282*		176744795	NM_006898	Q99955|Q9BSC5	Nonsense_Mutation	SNP	ENST00000468418.3	37	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	C	37	6.392700	0.97529	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8689	0.52509	0.0:0.9203:0.0:0.0797	.	.	.	.	X	282	.	ENSP00000249440:Y282X	Y	+	3	2	HOXD3	176744795	1.000000	0.71417	0.991000	0.47740	0.907000	0.53573	1.333000	0.33816	2.606000	0.88127	0.561000	0.74099	TAC		0.697	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4		
MYT1L	23040	broad.mit.edu	37	2	1795758	1795758	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1795758A>C	ENST00000399161.2	-	25	4189	c.3442T>G	c.(3442-3444)Ttt>Gtt	p.F1148V	MYT1L_ENST00000428368.2_Missense_Mutation_p.F1146V|MYT1L_ENST00000407844.1_Missense_Mutation_p.F146V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1148					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F1148V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TAAGCATCAAAATTTTGTTCA	0.294																																					p.F1146V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3436G	2						.						81.0	70.0	73.0					2																	1795758		1824	4083	5907	1774765	SO:0001583	missense	23040	exon25			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3442T>G	2.37:g.1795758A>C	ENSP00000382114:p.Phe1148Val		1774765	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.103331	0.76983	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000428368	T;T	0.55413	0.52;0.52	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.73962	2.25	0.80722	D	1	P;D;D	0.67145	0.844;0.996;0.991	B;P;P	0.60012	0.366;0.867;0.73	T	0.72456	-0.4288	10	0.54805	T	0.06	-13.8934	16.3275	0.82990	1.0:0.0:0.0:0.0	.	146;1148;1146	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	V	1148;1094;146;1146	ENSP00000382114:F1148V;ENSP00000396103:F1146V	ENSP00000295067:F1094V	F	-	1	0	MYT1L	1774765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.251000	0.95483	2.266000	0.75297	0.529000	0.55759	TTT		0.294	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
HOXD1	3231	broad.mit.edu	37	2	177054839	177054839	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:177054839G>A	ENST00000331462.4	+	2	1179	c.956G>A	c.(955-957)gGc>gAc	p.G319D	HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000413969.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	319					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G319D(1)		kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGAACCCCGGCAGCCCTTCT	0.582																																					p.G319D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956A	2						.						47.0	52.0	50.0					2																	177054839		2203	4300	6503	176763085	SO:0001583	missense	3231	exon2				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.956G>A	2.37:g.177054839G>A	ENSP00000328598:p.Gly319Asp		176763085	NM_024501	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045482	0.19748	.	.	ENSG00000128645	ENST00000331462	D	0.90563	-2.69	5.84	3.82	0.43975	.	0.438581	0.19175	N	0.120824	T	0.80549	0.4644	N	0.24115	0.695	0.25270	N	0.989528	B;B	0.24823	0.112;0.112	B;B	0.22386	0.039;0.039	T	0.64659	-0.6355	10	0.18710	T	0.47	.	5.8289	0.18568	0.1533:0.568:0.2787:0.0	.	319;319	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	D	319	ENSP00000328598:G319D	ENSP00000328598:G319D	G	+	2	0	HOXD1	176763085	0.001000	0.12720	0.069000	0.20011	0.174000	0.22865	0.411000	0.21115	0.694000	0.31654	0.655000	0.94253	GGC		0.582	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2		
HNRNPA3	220988	broad.mit.edu	37	2	178081235	178081235	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178081235G>T	ENST00000392524.2	+	5	795	c.558G>T	c.(556-558)caG>caT	p.Q186H	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.Q186H|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.Q164H			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	186	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q186H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTTAGTTCAGAAATACCACA	0.338																																					p.Q186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G558T	2						.						51.0	55.0	54.0					2																	178081235		2203	4300	6503	177789481	SO:0001583	missense	220988	exon5			AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.558G>T	2.37:g.178081235G>T	ENSP00000376309:p.Gln186His		177789481	NM_194247	D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116460	0.56505	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	T;T;T	0.74209	-0.82;-0.82;-0.82	3.99	3.99	0.46301	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.41001	D	0.000973	T	0.76793	0.4037	L	0.33624	1.015	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.922	T	0.76583	-0.2906	10	0.46703	T	0.11	.	11.3241	0.49438	0.0893:0.0:0.9107:0.0	.	164;186	B4DDB6;P51991	.;ROA3_HUMAN	H	186;164;164;164;186	ENSP00000376309:Q186H;ENSP00000408487:Q164H;ENSP00000416340:Q186H	ENSP00000376309:Q186H	Q	+	3	2	HNRNPA3	177789481	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.499000	0.60380	2.251000	0.74343	0.563000	0.77884	CAG		0.338	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247	
NFE2L2	4780	broad.mit.edu	37	2	178095799	178095799	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178095799G>A	ENST00000397062.3	-	5	2086	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	NFE2L2_ENST00000397063.4_Missense_Mutation_p.A495V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.A495V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.A488V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	511	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A511V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GCAATTCTGAGCAGCCACTTT	0.348			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																											p.A511V			Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1532T	2						.						128.0	112.0	117.0					2																	178095799		1826	4080	5906	177804045	SO:0001583	missense	4780	exon5				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1532C>T	2.37:g.178095799G>A	ENSP00000380252:p.Ala511Val		177804045	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607003	0.87157	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;D	0.95342	0.03;0.03;0.03;-3.68	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98510	1.0618	10	0.87932	D	0	-14.4011	20.3747	0.98911	0.0:0.0:1.0:0.0	.	488;511	E9PGJ7;Q16236	.;NF2L2_HUMAN	V	495;511;488;239	ENSP00000380253:A495V;ENSP00000380252:A511V;ENSP00000411575:A488V;ENSP00000391590:A239V	ENSP00000380252:A511V	A	-	2	0	NFE2L2	177804045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GCT		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
NFE2L2	4780	broad.mit.edu	37	2	178096193	178096193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178096193C>A	ENST00000397062.3	-	5	1692	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.E364*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.E364*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.E357*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	380					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E380*(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTATCTAGCTCTTCCACTTCA	0.478			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																											p.E380X			Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1138T	2						.						152.0	152.0	152.0					2																	178096193		2181	4296	6477	177804439	SO:0001587	stop_gained	4780	exon5				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1138G>T	2.37:g.178096193C>A	ENSP00000380252:p.Glu380*		177804439	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694598	0.88830	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	.	.	.	5.83	5.83	0.93111	.	0.135056	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.5333	20.1374	0.98035	0.0:1.0:0.0:0.0	.	.	.	.	X	364;380;357;108	.	ENSP00000380252:E380X	E	-	1	0	NFE2L2	177804439	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.274000	0.78538	2.763000	0.94921	0.563000	0.77884	GAG		0.478	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
NFE2L2	4780	broad.mit.edu	37	2	178098009	178098009	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178098009G>A	ENST00000397062.3	-	3	925	c.371C>T	c.(370-372)gCg>gTg	p.A124V	NFE2L2_ENST00000397063.4_Missense_Mutation_p.A108V|NFE2L2_ENST00000423513.1_Missense_Mutation_p.A108V|NFE2L2_ENST00000464747.1_Missense_Mutation_p.A108V|NFE2L2_ENST00000446151.2_Missense_Mutation_p.A108V	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	124					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A124V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAATGTCTGCGCCAAAAGCTG	0.358			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																											p.A124V			Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	2						.						108.0	97.0	100.0					2																	178098009		1856	4122	5978	177806255	SO:0001583	missense	4780	exon3				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.371C>T	2.37:g.178098009G>A	ENSP00000380252:p.Ala124Val		177806255	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630822	0.87660	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.65	4.75	0.60458	.	0.148276	0.64402	D	0.000011	T	0.39835	0.1093	M	0.81497	2.545	0.49582	D	0.999803	D;P;D	0.53151	0.958;0.949;0.958	B;P;B	0.44623	0.267;0.455;0.267	T	0.44636	-0.9315	10	0.56958	D	0.05	.	11.4261	0.50012	0.0:0.1363:0.7221:0.1416	.	108;108;124	E9PGJ7;C9JFL6;Q16236	.;.;NF2L2_HUMAN	V	108;124;108;108;108;108	ENSP00000380253:A108V;ENSP00000380252:A124V;ENSP00000411575:A108V;ENSP00000400073:A108V;ENSP00000412191:A108V;ENSP00000410015:A108V	ENSP00000380252:A124V	A	-	2	0	NFE2L2	177806255	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.021000	0.70832	1.338000	0.45544	0.491000	0.48974	GCG		0.358	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
AGPS	8540	broad.mit.edu	37	2	178301756	178301756	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178301756G>A	ENST00000264167.4	+	5	757	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	204	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)	p.R204Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATGTTTGAGCGAATTCCTGAT	0.303																																					p.R204Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	2						.						125.0	132.0	130.0					2																	178301756		2203	4300	6503	178010002	SO:0001583	missense	8540	exon5			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.611G>A	2.37:g.178301756G>A	ENSP00000264167:p.Arg204Gln		178010002	NM_003659	A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871480	0.91587	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82526	-1.62	5.52	4.64	0.57946	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.89735	0.3929	10	0.72032	D	0.01	.	14.2952	0.66308	0.0719:0.0:0.9281:0.0	.	204	O00116	ADAS_HUMAN	Q	204;74	ENSP00000264167:R204Q	ENSP00000264167:R204Q	R	+	2	0	AGPS	178010002	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.468000	0.90393	1.315000	0.45114	0.655000	0.94253	CGA		0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2		
TTC30B	150737	broad.mit.edu	37	2	178415849	178415849	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178415849A>T	ENST00000408939.3	-	1	1893	c.1643T>A	c.(1642-1644)tTg>tAg	p.L548*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	548					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.L548*(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCCTATCACCAAATTCACAAT	0.393																																					p.L548X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1643A	2						.						209.0	221.0	217.0					2																	178415849		2203	4300	6503	178124095	SO:0001587	stop_gained	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1643T>A	2.37:g.178415849A>T	ENSP00000386181:p.Leu548*		178124095	NM_152517	Q63HQ1|Q96NE6	Nonsense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	A	38	6.880855	0.97908	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9246	0.70866	1.0:0.0:0.0:0.0	.	.	.	.	X	501;548	.	ENSP00000386181:L548X	L	-	2	0	TTC30B	178124095	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.673000	0.91186	2.160000	0.67779	0.533000	0.62120	TTG		0.393	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
TTC30B	150737	broad.mit.edu	37	2	178416144	178416144	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178416144A>C	ENST00000408939.3	-	1	1598	c.1348T>G	c.(1348-1350)Tct>Gct	p.S450A		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	450					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.S450A(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AATTCCACAGATTTGCGGAAG	0.388																																					p.S450A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1348G	2						.						323.0	331.0	328.0					2																	178416144		2203	4300	6503	178124390	SO:0001583	missense	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1348T>G	2.37:g.178416144A>C	ENSP00000386181:p.Ser450Ala		178124390	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806673	0.50421	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.25749	1.78	4.53	4.53	0.55603	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.80422	2.495	0.80722	D	1	P	0.45044	0.849	P	0.45639	0.488	T	0.28870	-1.0030	10	0.27785	T	0.31	.	14.305	0.66380	1.0:0.0:0.0:0.0	.	450	Q8N4P2	TT30B_HUMAN	A	403;450	ENSP00000386181:S450A	ENSP00000386181:S450A	S	-	1	0	TTC30B	178124390	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.936000	0.92931	2.032000	0.59987	0.533000	0.62120	TCT		0.388	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
TTC30A	92104	broad.mit.edu	37	2	178482356	178482356	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178482356G>A	ENST00000355689.5	-	1	1338	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	358					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.L358L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGAAGTCATAGAGATAGGGTG	0.473																																					p.L358L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	2						.						122.0	128.0	126.0					2																	178482356		2203	4300	6503	178190602	SO:0001819	synonymous_variant	92104	exon1			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1074C>T	2.37:g.178482356G>A			178190602	NM_152275	A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	CCDS2276.1																																																																																				0.473	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
PDE11A	50940	broad.mit.edu	37	2	178681637	178681637	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178681637G>T	ENST00000286063.6	-	9	1973	c.1656C>A	c.(1654-1656)atC>atA	p.I552I	PDE11A_ENST00000449286.2_Silent_p.I194I|PDE11A_ENST00000358450.4_Silent_p.I302I|PDE11A_ENST00000389683.3_Silent_p.I108I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Silent_p.I194I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	552	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I552I(1)|p.I302I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GTCCACAAAAGATGACAAAAG	0.423									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.I108I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C324A	2						.						106.0	98.0	101.0					2																	178681637		2203	4300	6503	178389883	SO:0001819	synonymous_variant	50940	exon6	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1656C>A	2.37:g.178681637G>T			178389883	NM_001077196	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1																																																																																				0.423	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
PDE11A	50940	broad.mit.edu	37	2	178705092	178705092	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178705092C>A	ENST00000286063.6	-	6	1703	c.1386G>T	c.(1384-1386)gaG>gaT	p.E462D	PDE11A_ENST00000449286.2_Missense_Mutation_p.E104D|PDE11A_ENST00000358450.4_Missense_Mutation_p.E212D|PDE11A_ENST00000389683.3_Missense_Mutation_p.E18D|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.E104D	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	462	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.E212D(1)|p.E462D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATGATGATTTCTCCATGCTTT	0.423									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.E18D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G54T	2						.						110.0	106.0	107.0					2																	178705092		2203	4300	6503	178413338	SO:0001583	missense	50940	exon3	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1386G>T	2.37:g.178705092C>A	ENSP00000286063:p.Glu462Asp		178413338	NM_001077196	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.39|13.39	2.224118|2.224118	0.39300|0.39300	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286|ENST00000433879	T;T;T;T;T|.	0.73575|.	-0.22;-0.22;-0.22;-0.76;-0.22|.	5.69|5.69	4.81|4.81	0.61882|0.61882	GAF (2);|.	0.156322|.	0.64402|.	D|.	0.000016|.	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.003;0.004|.	B;B|.	0.13407|.	0.006;0.009|.	T|T	0.45789|0.45789	-0.9237|-0.9237	10|5	0.27785|.	T|.	0.31|.	.|.	13.2396|13.2396	0.59989|0.59989	0.0:0.8711:0.0:0.1289|0.0:0.8711:0.0:0.1289	.|.	212;462|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	D|I	462;212;104;18;104|101	ENSP00000286063:E462D;ENSP00000351232:E212D;ENSP00000386539:E104D;ENSP00000374333:E18D;ENSP00000390599:E104D|.	ENSP00000286063:E462D|.	E|R	-|-	3|2	2|0	PDE11A|PDE11A	178413338|178413338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	1.634000|1.634000	0.37123|0.37123	2.696000|2.696000	0.92011|0.92011	0.467000|0.467000	0.42956|0.42956	GAG|AGA		0.423	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
PDE11A	50940	broad.mit.edu	37	2	178936595	178936595	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178936595G>A	ENST00000286063.6	-	1	887	c.570C>T	c.(568-570)atC>atT	p.I190I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	190					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I190I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACTTGTAGTCGATGGCTGTAG	0.517									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.I190I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C570T	2						.						99.0	92.0	95.0					2																	178936595		2203	4300	6503	178644841	SO:0001819	synonymous_variant	50940	exon1	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.570C>T	2.37:g.178936595G>A			178644841	NM_016953	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1																																																																																				0.517	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
RBM45	129831	broad.mit.edu	37	2	178988278	178988278	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:178988278G>A	ENST00000286070.5	+	6	975	c.883G>A	c.(883-885)Gca>Aca	p.A295T		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	297					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A295T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTTTAATGTAGCATCAGCTAT	0.368																																					p.A295T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883A	2						.						104.0	100.0	102.0					2																	178988278		2203	4300	6503	178696524	SO:0001583	missense	129831	exon6			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.883G>A	2.37:g.178988278G>A	ENSP00000286070:p.Ala295Thr		178696524	NM_152945	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185144	0.57909	.	.	ENSG00000155636	ENST00000286070	T	0.06449	3.3	4.86	3.97	0.46021	.	0.108677	0.64402	D	0.000007	T	0.10380	0.0254	L	0.43152	1.355	0.39801	D	0.972574	D	0.58620	0.983	P	0.54544	0.755	T	0.33904	-0.9850	10	0.16896	T	0.51	-15.8997	9.691	0.40127	0.0:0.1537:0.6869:0.1594	.	295	Q8IUH3-3	.	T	295	ENSP00000286070:A295T	ENSP00000286070:A295T	A	+	1	0	RBM45	178696524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.056000	0.76662	1.157000	0.42530	0.460000	0.39030	GCA		0.368	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945	
OSBPL6	114880	broad.mit.edu	37	2	179247226	179247226	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179247226C>T	ENST00000190611.4	+	16	1989	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	OSBPL6_ENST00000409045.3_Missense_Mutation_p.S507F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S563F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S502F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S471F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S502F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S542F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	538					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S538F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GACAATATTTCTCGGCAAAGT	0.428																																					p.S538F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1613T	2						.						118.0	108.0	112.0					2																	179247226		2203	4300	6503	178955472	SO:0001583	missense	114880	exon16			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1613C>T	2.37:g.179247226C>T	ENSP00000190611:p.Ser538Phe		178955472	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029222	0.93518	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.13089	2.64;2.65;2.62;2.65;2.65;2.65;2.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.44542	1.39	0.80722	D	1	D;D;P;D;D;D	0.76494	0.957;0.998;0.935;0.998;0.996;0.999	P;D;P;D;P;D	0.83275	0.865;0.958;0.796;0.958;0.823;0.996	T	0.01208	-1.1418	10	0.13853	T	0.58	-16.2973	20.3932	0.98965	0.0:1.0:0.0:0.0	.	507;542;502;563;538;471	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	F	563;502;471;507;538;502;542	ENSP00000376293:S563F;ENSP00000352713:S502F;ENSP00000349591:S471F;ENSP00000387248:S507F;ENSP00000190611:S538F;ENSP00000386885:S502F;ENSP00000318723:S542F	ENSP00000190611:S538F	S	+	2	0	OSBPL6	178955472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.516000	0.60496	2.824000	0.97209	0.655000	0.94253	TCT		0.428	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
PRKRA	8575	broad.mit.edu	37	2	179309179	179309179	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179309179C>A	ENST00000325748.4	-	4	566	c.366G>T	c.(364-366)aaG>aaT	p.K122N	PRKRA_ENST00000487082.1_Missense_Mutation_p.K97N|PRKRA_ENST00000470200.1_5'Flank|PRKRA_ENST00000438687.3_Missense_Mutation_p.K9N|PRKRA_ENST00000432031.2_Missense_Mutation_p.K111N	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	122	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K122N(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TAAGCTGGTTCTTTGGTTGCT	0.353																																					p.K111N	Melanoma(200;68 3001 23825 48764)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G333T	2						.						99.0	102.0	101.0					2																	179309179		2203	4300	6503	179017425	SO:0001583	missense	8575	exon3			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.366G>T	2.37:g.179309179C>A	ENSP00000318176:p.Lys122Asn		179017425	NM_001139517	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010122	0.54361	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	T;T;T;T	0.73897	-0.79;-0.69;-0.78;-0.78	6.07	6.07	0.98685	.	0.446573	0.24623	N	0.036951	T	0.69106	0.3074	L	0.42744	1.35	0.39895	D	0.973828	B;B	0.13594	0.008;0.002	B;B	0.11329	0.002;0.006	T	0.62539	-0.6833	10	0.30078	T	0.28	.	17.5607	0.87906	0.0:1.0:0.0:0.0	.	122;111	O75569;O75569-2	PRKRA_HUMAN;.	N	122;9;97;111	ENSP00000318176:K122N;ENSP00000398980:K9N;ENSP00000430604:K97N;ENSP00000393883:K111N	ENSP00000318176:K122N	K	-	3	2	PRKRA	179017425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.458000	0.45014	2.884000	0.98904	0.655000	0.94253	AAG		0.353	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690	
PLEKHA3	65977	broad.mit.edu	37	2	179358692	179358692	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179358692G>T	ENST00000234453.5	+	4	828	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	142						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.E142D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ACCATGATGAGAATCATTCAT	0.443																																					p.E142D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	2						.						142.0	132.0	135.0					2																	179358692		2203	4300	6503	179066938	SO:0001583	missense	65977	exon4			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.426G>T	2.37:g.179358692G>T	ENSP00000234453:p.Glu142Asp		179066938	NM_019091	Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147312	0.37923	.	.	ENSG00000116095	ENST00000234453	T	0.13901	2.55	5.83	4.91	0.64330	.	0.278011	0.41194	D	0.000934	T	0.10294	0.0252	N	0.16478	0.41	0.49798	D	0.999824	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	10	0.21014	T	0.42	-0.9437	18.5871	0.91194	0.0:0.1266:0.8734:0.0	.	142	Q9HB20	PKHA3_HUMAN	D	142	ENSP00000234453:E142D	ENSP00000234453:E142D	E	+	3	2	PLEKHA3	179066938	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	2.734000	0.47368	2.755000	0.94549	0.650000	0.86243	GAG		0.443	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
TTN	7273	broad.mit.edu	37	2	179397979	179397979	+	Missense_Mutation	SNP	G	G	A	rs72629785	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179397979G>A	ENST00000591111.1	-	308	98664	c.98440C>T	c.(98440-98442)Cgc>Tgc	p.R32814C	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25582C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25390C|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25515C|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34455C|TTN_ENST00000342992.6_Missense_Mutation_p.R31887C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32814					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.R25582C(1)|p.R25515C(1)|p.R25390C(1)|p.R31885C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCTCAGGCGTTCCACTTGT	0.478													G|||	16	0.00319489	0.0121	0.0	5008	,	,		22770	0.0		0.0	False		,,,				2504	0.0				p.N25389N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C76167T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	37,3917		1,35,1941	98.0	94.0	96.0		76168,95659,76543,76744	5.8	1.0	2	dbSNP_130	96	0,8294		0,0,4147	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	1,35,6088	AA,AG,GG		0.0,0.9358,0.3021	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25390/26927,31887/33424,25515/27052,25582/27119	179397979	37,12211	1977	4147	6124	179106225	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98440C>T	2.37:g.179397979G>A	ENSP00000465570:p.Arg32814Cys		179106225	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.93	3.509228	0.64522	0.009358	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;0.1;0.08;0.07	5.78	5.78	0.91487	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57814	0.2079	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.57846	0.828;0.828;0.828;0.828	T	0.67650	-0.5616	9	0.87932	D	0	.	19.6001	0.95559	0.0:0.0:1.0:0.0	.	25390;25515;25582;32814	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	31887;25390;25582;25515;25387	ENSP00000343764:R31887C;ENSP00000434586:R25390C;ENSP00000340554:R25582C;ENSP00000352154:R25515C	ENSP00000340554:R25582C	R	-	1	0	TTN	179106225	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	7.832000	0.86757	2.745000	0.94114	0.555000	0.69702	CGC		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179400455	179400455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179400455C>T	ENST00000591111.1	-	308	96188	c.95964G>A	c.(95962-95964)tgG>tgA	p.W31988*	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W24756*|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W24564*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W24689*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W33629*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W31061*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31988	Ig-like 142.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W31059*(1)|p.W24689*(1)|p.W24756*(1)|p.W24564*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCTTTCTGCCAGGTGATCA	0.453																																					p.G24564D												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G73691A	2						.						122.0	123.0	123.0					2																	179400455		1963	4163	6126	179108701	SO:0001587	stop_gained	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95964G>A	2.37:g.179400455C>T	ENSP00000465570:p.Trp31988*		179108701	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	70	111.601612	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.319	0.94229	0.0:1.0:0.0:0.0	.	.	.	.	X	31061;24564;24756;24689;24561	.	ENSP00000340554:W24756X	W	-	3	0	TTN	179108701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.640000	0.89533	0.563000	0.77884	TGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179403940	179403940	+	Missense_Mutation	SNP	C	C	T	rs267599023		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179403940C>T	ENST00000591111.1	-	303	94023	c.93799G>A	c.(93799-93801)Gat>Aat	p.D31267N	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24035N|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23843N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23968N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32908N|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30340N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31267	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D23968N(1)|p.D30338N(1)|p.D23843N(1)|p.D24035N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTACATCGAGTACTTCT	0.443																																					p.S23842S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G71526A	2						.						117.0	107.0	110.0					2																	179403940		1929	4122	6051	179112186	SO:0001583	missense	7273	exon181			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.93799G>A	2.37:g.179403940C>T	ENSP00000465570:p.Asp31267Asn		179112186	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.679912	0.88542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70675	0.3251	L	0.49455	1.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.69577	-0.5108	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23843;23968;24035;31267	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30340;23843;24035;23968;23840	ENSP00000343764:D30340N;ENSP00000434586:D23843N;ENSP00000340554:D24035N;ENSP00000352154:D23968N	ENSP00000340554:D24035N	D	-	1	0	TTN	179112186	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179404446	179404446	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179404446G>A	ENST00000591111.1	-	302	93647	c.93423C>T	c.(93421-93423)ggC>ggT	p.G31141G	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Silent_p.G23909G|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Silent_p.G23717G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G23842G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.G32782G|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Silent_p.G30214G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31141	Ig-like 139.				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.G23842G(1)|p.G23909G(1)|p.G23717G(1)|p.G30212G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCTTCTTGCCACATTTAT	0.478																																					p.A23717V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C71150T	2						.						122.0	112.0	115.0					2																	179404446		1985	4162	6147	179112692	SO:0001819	synonymous_variant	7273	exon180			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.93423C>T	2.37:g.179404446G>A			179112692	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179404590	179404590	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179404590T>C	ENST00000591111.1	-	302	93503	c.93279A>G	c.(93277-93279)ccA>ccG	p.P31093P	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Silent_p.P23861P|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Silent_p.P23669P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.P23794P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P32734P|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Silent_p.P30166P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31093	Ig-like 139.				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.P23794P(1)|p.P30164P(1)|p.P23669P(1)|p.P23861P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTACATATTGGGAATGGTT	0.418																																					p.Q23669R												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.A71006G	2						.						136.0	127.0	130.0					2																	179404590		1986	4174	6160	179112836	SO:0001819	synonymous_variant	7273	exon180			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.93279A>G	2.37:g.179404590T>C			179112836	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179407003	179407003	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179407003G>A	ENST00000591111.1	-	299	92781	c.92557C>T	c.(92557-92559)Cgc>Tgc	p.R30853C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23621C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23429C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23554C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32494C|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29926C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30853	Fibronectin type-III 124. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R29924C(1)|p.R23429C(1)|p.R23621C(1)|p.R23554C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTGCTGCGACACTCTATG	0.463																																					p.V23428V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C70284T	2						.						48.0	46.0	47.0					2																	179407003		2038	4190	6228	179115249	SO:0001583	missense	7273	exon177			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.92557C>T	2.37:g.179407003G>A	ENSP00000465570:p.Arg30853Cys		179115249	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	26.1	4.707743	0.89018	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;0.04;0.01;0.01	6.17	5.25	0.73442	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57621	0.2066	L	0.27053	0.805	0.52501	D	0.999959	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.50490	0.642;0.642;0.642;0.642	T	0.61192	-0.7112	9	0.87932	D	0	.	12.7826	0.57485	0.0:0.0:0.6932:0.3068	.	23429;23554;23621;30853	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	29926;23429;23621;23554;23426	ENSP00000343764:R29926C;ENSP00000434586:R23429C;ENSP00000340554:R23621C;ENSP00000352154:R23554C	ENSP00000340554:R23621C	R	-	1	0	TTN	179115249	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.635000	0.74295	2.941000	0.99782	0.655000	0.94253	CGC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179408940	179408940	+	Missense_Mutation	SNP	C	C	T	rs191786700	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179408940C>T	ENST00000591111.1	-	295	91317	c.91093G>A	c.(91093-91095)Gtg>Atg	p.V30365M	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23133M|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22941M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23066M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32006M|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29438M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30365	Fibronectin type-III 121. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V22941M(1)|p.V23133M(1)|p.V29436M(1)|p.V23066M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTTTCCACGGGCTCAATT	0.383													C|||	5	0.000998403	0.003	0.0014	5008	,	,		22493	0.0		0.0	False		,,,				2504	0.0				p.P22940P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G68820A	2						.	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	5,3679		0,5,1837	75.0	73.0	74.0		69397,69196,88312,68821	5.2	0.9	2		74	3,8169		0,3,4083	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	21,21,21,21	0,8,5920	TT,TC,CC		0.0367,0.1357,0.0675	benign,benign,benign,benign	23133/27119,23066/27052,29438/33424,22941/26927	179408940	8,11848	1842	4086	5928	179117186	SO:0001583	missense	7273	exon173			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.91093G>A	2.37:g.179408940C>T	ENSP00000465570:p.Val30365Met		179117186	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	9.930	1.214635	0.22289	0.001357	3.67E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.22;0.2;0.19	6.04	5.16	0.70880	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48960	0.1529	L	0.47716	1.5	0.45690	D	0.9986	B;B;B;B	0.23735	0.09;0.09;0.09;0.09	B;B;B;B	0.16289	0.015;0.015;0.015;0.015	T	0.54715	-0.8252	9	0.87932	D	0	.	15.6058	0.76668	0.0:0.9342:0.0:0.0658	.	22941;23066;23133;30365	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	29438;22941;23133;23066;22938	ENSP00000343764:V29438M;ENSP00000434586:V22941M;ENSP00000340554:V23133M;ENSP00000352154:V23066M	ENSP00000340554:V23133M	V	-	1	0	TTN	179117186	0.939000	0.31865	0.918000	0.36340	0.208000	0.24298	1.896000	0.39789	1.572000	0.49736	0.561000	0.74099	GTG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179412259	179412259	+	Missense_Mutation	SNP	C	C	T	rs577262832		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179412259C>T	ENST00000591111.1	-	289	89395	c.89171G>A	c.(89170-89172)cGc>cAc	p.R29724H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22492H|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22300H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22425H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31365H|TTN_ENST00000342992.6_Missense_Mutation_p.R28797H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29724	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R22425H(1)|p.R28795H(1)|p.R22492H(1)|p.R22300H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTGAGTGCGCTTGACACT	0.408																																					p.A22300T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G66898A	2						.						74.0	72.0	73.0					2																	179412259		1894	4117	6011	179120505	SO:0001583	missense	7273	exon167			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.89171G>A	2.37:g.179412259C>T	ENSP00000465570:p.Arg29724His		179120505	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.011315	0.75046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72653	0.3487	M	0.64997	1.995	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73052	-0.4104	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	22300;22425;22492;29724	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28797;22300;22492;22425;22297	ENSP00000343764:R28797H;ENSP00000434586:R22300H;ENSP00000340554:R22492H;ENSP00000352154:R22425H	ENSP00000340554:R22492H	R	-	2	0	TTN	179120505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.795000	0.96236	0.655000	0.94253	CGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179412379	179412379	+	Missense_Mutation	SNP	G	G	A	rs143679526	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179412379G>A	ENST00000591111.1	-	289	89275	c.89051C>T	c.(89050-89052)tCg>tTg	p.S29684L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22452L|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22260L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22385L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31325L|TTN_ENST00000342992.6_Missense_Mutation_p.S28757L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29684	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S22260L(1)|p.S22385L(1)|p.S22452L(1)|p.S28755L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGACACACGATTCAGCTGA	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20061	0.0		0.0	False		,,,				2504	0.0				p.R22260C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C66778T	2						.						137.0	134.0	135.0					2																	179412379		1950	4149	6099	179120625	SO:0001583	missense	7273	exon167			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.89051C>T	2.37:g.179412379G>A	ENSP00000465570:p.Ser29684Leu		179120625	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.05	3.012360	0.54468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84732	0.5537	M	0.91818	3.245	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.87012	0.2123	9	0.87932	D	0	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	22260;22385;22452;29684	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	28757;22260;22452;22385;22257	ENSP00000343764:S28757L;ENSP00000434586:S22260L;ENSP00000340554:S22452L;ENSP00000352154:S22385L	ENSP00000340554:S22452L	S	-	2	0	TTN	179120625	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	7.876000	0.87215	2.795000	0.96236	0.655000	0.94253	TCG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179413522	179413522	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179413522C>T	ENST00000591111.1	-	289	88132	c.87908G>A	c.(87907-87909)cGc>cAc	p.R29303H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22071H|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21879H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22004H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30944H|TTN_ENST00000342992.6_Missense_Mutation_p.R28376H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29303	Ig-like 134.				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.R22004H(1)|p.R22071H(1)|p.R21879H(1)|p.R28374H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGAAGAGGCGAATACTGGC	0.468																																					p.A21879T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G65635A	2						.						122.0	118.0	119.0					2																	179413522		1959	4145	6104	179121768	SO:0001583	missense	7273	exon167			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.87908G>A	2.37:g.179413522C>T	ENSP00000465570:p.Arg29303His		179121768	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.43	2.830078	0.50845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.97	4.97	0.65823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48370	0.1496	M	0.76002	2.32	0.39008	D	0.959486	B;B;B;B	0.27140	0.169;0.169;0.169;0.169	B;B;B;B	0.24701	0.032;0.032;0.032;0.055	T	0.56366	-0.7991	9	0.87932	D	0	.	18.6009	0.91247	0.0:1.0:0.0:0.0	.	21879;22004;22071;29303	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28376;21879;22071;22004;21876	ENSP00000343764:R28376H;ENSP00000434586:R21879H;ENSP00000340554:R22071H;ENSP00000352154:R22004H	ENSP00000340554:R22071H	R	-	2	0	TTN	179121768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.762000	0.38451	2.457000	0.83068	0.557000	0.71058	CGC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179417092	179417092	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179417092G>A	ENST00000591111.1	-	285	85836	c.85612C>T	c.(85612-85614)Cgc>Tgc	p.R28538C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21306C|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21114C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21239C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30179C|TTN_ENST00000342992.6_Missense_Mutation_p.R27611C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28538	Ig-like 132.		R -> H. {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.R21306C(1)|p.R21114C(1)|p.R21239C(1)|p.R27609C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTGAAGCGAACAAATTCA	0.383																																					p.F21113F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C63339T	2						.						88.0	83.0	84.0					2																	179417092		1883	4098	5981	179125338	SO:0001583	missense	7273	exon163			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85612C>T	2.37:g.179417092G>A	ENSP00000465570:p.Arg28538Cys		179125338	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.44	2.237741	0.39598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79707	0.4492	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80464	-0.1371	9	0.87932	D	0	.	15.0877	0.72167	0.0:0.0:0.8583:0.1417	.	21114;21239;21306;28538	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27611;21114;21306;21239;21111	ENSP00000343764:R27611C;ENSP00000434586:R21114C;ENSP00000340554:R21306C;ENSP00000352154:R21239C	ENSP00000340554:R21306C	R	-	1	0	TTN	179125338	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	5.565000	0.67365	2.882000	0.98803	0.655000	0.94253	CGC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179417917	179417917	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179417917G>A	ENST00000591111.1	-	285	85011	c.84787C>T	c.(84787-84789)Cgc>Tgc	p.R28263C	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21031C|TTN-AS1_ENST00000586707.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20839C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20964C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R29904C|TTN_ENST00000342992.6_Missense_Mutation_p.R27336C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28263	Ig-like 131.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R20839C(1)|p.R20964C(1)|p.R21031C(1)|p.R27334C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATCATTGCGAGTAACTTGA	0.403																																					p.L20838L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C62514T	2						.						171.0	167.0	168.0					2																	179417917		1935	4128	6063	179126163	SO:0001583	missense	7273	exon163			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84787C>T	2.37:g.179417917G>A	ENSP00000465570:p.Arg28263Cys		179126163	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.68	2.608316	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.39	4.46	0.54185	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78013	0.4217	H	0.98333	4.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86666	0.1907	9	0.87932	D	0	.	16.0479	0.80734	0.0:0.0:0.8657:0.1343	.	20839;20964;21031;28263	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27336;20839;21031;20964;20836	ENSP00000343764:R27336C;ENSP00000434586:R20839C;ENSP00000340554:R21031C;ENSP00000352154:R20964C	ENSP00000340554:R21031C	R	-	1	0	TTN	179126163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.877000	0.56123	2.677000	0.91161	0.655000	0.94253	CGC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179419339	179419339	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179419339C>T	ENST00000591111.1	-	282	84036	c.83812G>A	c.(83812-83814)Gtt>Att	p.V27938I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20706I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V20514I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20639I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29579I|TTN_ENST00000342992.6_Missense_Mutation_p.V27011I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27938	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V20639I(1)|p.V27009I(1)|p.V20514I(1)|p.V20706I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACACAACGCGGCTTGTC	0.468																																					p.A20513A												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G61539A	2						.						98.0	100.0	100.0					2																	179419339		2037	4192	6229	179127585	SO:0001583	missense	7273	exon160			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.83812G>A	2.37:g.179419339C>T	ENSP00000465570:p.Val27938Ile		179127585	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.48	2.847101	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.66	5.66	0.87406	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40767	0.1130	N	0.25332	0.735	0.50039	D	0.999841	P;P;P;P	0.47841	0.901;0.901;0.901;0.768	B;B;B;B	0.34385	0.181;0.181;0.181;0.12	T	0.50039	-0.8874	9	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	20514;20639;20706;27938	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	27011;20514;20706;20639;20511	ENSP00000343764:V27011I;ENSP00000434586:V20514I;ENSP00000340554:V20706I;ENSP00000352154:V20639I	ENSP00000340554:V20706I	V	-	1	0	TTN	179127585	1.000000	0.71417	0.540000	0.28089	0.955000	0.61496	4.400000	0.59709	2.826000	0.97356	0.655000	0.94253	GTT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179422773	179422773	+	Missense_Mutation	SNP	T	T	G	rs375374455		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179422773T>G	ENST00000591111.1	-	278	82609	c.82385A>C	c.(82384-82386)aAt>aCt	p.N27462T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N20230T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N20038T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N20163T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N29103T|TTN_ENST00000342992.6_Missense_Mutation_p.N26535T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27462					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.N26533T(1)|p.N20230T(1)|p.N20163T(1)|p.N20038T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTGAGATTGATGGTCAG	0.433																																					p.I20038L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A60112C	2						.						121.0	117.0	118.0					2																	179422773		1897	4120	6017	179131019	SO:0001583	missense	7273	exon156			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.82385A>C	2.37:g.179422773T>G	ENSP00000465570:p.Asn27462Thr		179131019	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.71	2.319470	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40670	0.1126	N	0.01874	-0.695	0.38022	D	0.934881	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.24848	0.031;0.031;0.056;0.056	T	0.49615	-0.8921	9	0.87932	D	0	.	16.1297	0.81418	0.0:0.0:0.0:1.0	.	20038;20163;20230;27462	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	26535;20038;20230;20163;20035	ENSP00000343764:N26535T;ENSP00000434586:N20038T;ENSP00000340554:N20230T;ENSP00000352154:N20163T	ENSP00000340554:N20230T	N	-	2	0	TTN	179131019	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.590000	0.46154	2.270000	0.75569	0.460000	0.39030	AAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179424881	179424881	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179424881T>A	ENST00000591111.1	-	276	81279	c.81055A>T	c.(81055-81057)Att>Ttt	p.I27019F	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19787F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I19595F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I19720F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I28660F|TTN_ENST00000342992.6_Missense_Mutation_p.I26092F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27019	Fibronectin type-III 97. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I26090F(1)|p.I19595F(1)|p.I19787F(1)|p.I19720F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCCACAATTTTGGGTTTG	0.453																																					p.K19594N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A58782T	2						.						107.0	104.0	105.0					2																	179424881		1897	4111	6008	179133127	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81055A>T	2.37:g.179424881T>A	ENSP00000465570:p.Ile27019Phe		179133127	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.47	2.245631	0.39697	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.17	1.06	0.20224	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59142	0.2172	M	0.76574	2.34	0.54753	D	0.999988	P;P;P;P	0.38582	0.638;0.638;0.638;0.638	P;P;P;P	0.47015	0.534;0.534;0.534;0.534	T	0.60047	-0.7339	9	0.87932	D	0	.	10.0984	0.42488	0.0:0.2487:0.0:0.7513	.	19595;19720;19787;27019	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	26092;19595;19787;19720;19592	ENSP00000343764:I26092F;ENSP00000434586:I19595F;ENSP00000340554:I19787F;ENSP00000352154:I19720F	ENSP00000340554:I19787F	I	-	1	0	TTN	179133127	1.000000	0.71417	0.922000	0.36590	0.985000	0.73830	1.824000	0.39072	-0.040000	0.13580	0.533000	0.62120	ATT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425230	179425230	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179425230C>A	ENST00000591111.1	-	276	80930	c.80706G>T	c.(80704-80706)aaG>aaT	p.K26902N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K19670N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K19478N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K19603N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K28543N|TTN_ENST00000342992.6_Missense_Mutation_p.K25975N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26902	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K19670N(1)|p.K19478N(1)|p.K25973N(1)|p.K19603N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCTAGTGCCTTTATAGCTA	0.398																																					p.R19478M												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G58433T	2						.						74.0	71.0	72.0					2																	179425230		1875	4104	5979	179133476	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80706G>T	2.37:g.179425230C>A	ENSP00000465570:p.Lys26902Asn		179133476	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.52	1.372701	0.24857	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63913	-0.07;0.18;0.15;0.14	5.88	4.08	0.47627	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.61400	0.2344	M	0.71581	2.175	0.45066	D	0.99808	P;P;P;P	0.50272	0.933;0.933;0.933;0.883	P;P;P;B	0.44860	0.462;0.462;0.462;0.299	T	0.63431	-0.6639	9	0.87932	D	0	.	7.3855	0.26880	0.0:0.6414:0.0:0.3586	.	19478;19603;19670;26902	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	25975;19478;19670;19603;19475	ENSP00000343764:K25975N;ENSP00000434586:K19478N;ENSP00000340554:K19670N;ENSP00000352154:K19603N	ENSP00000340554:K19670N	K	-	3	2	TTN	179133476	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.259000	0.32956	0.812000	0.34326	-0.136000	0.14681	AAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425834	179425834	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179425834G>A	ENST00000591111.1	-	276	80326	c.80102C>T	c.(80101-80103)tCc>tTc	p.S26701F	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S19469F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19277F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19402F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28342F|TTN_ENST00000342992.6_Missense_Mutation_p.S25774F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26701	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S25772F(1)|p.S19277F(1)|p.S19469F(1)|p.S19402F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCCAGTGGATTCAGATGG	0.418																																					p.P19277S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C57829T	2						.						106.0	105.0	105.0					2																	179425834		1911	4110	6021	179134080	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80102C>T	2.37:g.179425834G>A	ENSP00000465570:p.Ser26701Phe		179134080	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.40	1.627335	0.28978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.84	4.95	0.65309	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64560	0.2609	M	0.84156	2.68	0.38089	D	0.936916	P;P;P;P	0.50272	0.933;0.933;0.933;0.883	P;P;P;P	0.48030	0.564;0.564;0.564;0.467	T	0.75280	-0.3373	9	0.87932	D	0	.	15.3196	0.74112	0.0677:0.0:0.9323:0.0	.	19277;19402;19469;26701	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	25774;19277;19469;19402;19275	ENSP00000343764:S25774F;ENSP00000434586:S19277F;ENSP00000340554:S19469F;ENSP00000352154:S19402F	ENSP00000340554:S19469F	S	-	2	0	TTN	179134080	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.973000	0.56845	1.449000	0.47699	0.561000	0.74099	TCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179426797	179426797	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179426797G>T	ENST00000591111.1	-	276	79363	c.79139C>A	c.(79138-79140)tCt>tAt	p.S26380Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S19148Y|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18956Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19081Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28021Y|TTN_ENST00000342992.6_Missense_Mutation_p.S25453Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26380	Ig-like 127.				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.S19148Y(1)|p.S19081Y(1)|p.S25451Y(1)|p.S18956Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTAATAGATAGTGATGT	0.368																																					p.L18956I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C56866A	2						.						43.0	45.0	44.0					2																	179426797		1874	4098	5972	179135043	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79139C>A	2.37:g.179426797G>T	ENSP00000465570:p.Ser26380Tyr		179135043	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	6.885	0.532829	0.13127	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	6.05	2.85	0.33270	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53722	0.1814	N	0.17278	0.47	0.09310	N	1	B;B;B;B	0.30793	0.295;0.295;0.295;0.065	B;B;B;B	0.34452	0.104;0.104;0.183;0.12	T	0.53092	-0.8487	9	0.87932	D	0	.	13.0288	0.58831	0.2052:0.0:0.7948:0.0	.	18956;19081;19148;26380	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	25453;18956;19148;19081;18954	ENSP00000343764:S25453Y;ENSP00000434586:S18956Y;ENSP00000340554:S19148Y;ENSP00000352154:S19081Y	ENSP00000340554:S19148Y	S	-	2	0	TTN	179135043	0.000000	0.05858	0.089000	0.20774	0.991000	0.79684	1.097000	0.30988	0.880000	0.35969	0.650000	0.86243	TCT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427757	179427757	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179427757C>G	ENST00000591111.1	-	276	78403	c.78179G>C	c.(78178-78180)gGt>gCt	p.G26060A	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G18828A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18636A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18761A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G27701A|TTN_ENST00000342992.6_Missense_Mutation_p.G25133A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26060	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G18828A(1)|p.G25131A(1)|p.G18761A(1)|p.G18636A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGGTCGACCTTTGATAGT	0.458																																					p.V18636L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G55906C	2						.						150.0	147.0	148.0					2																	179427757		1939	4129	6068	179136003	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78179G>C	2.37:g.179427757C>G	ENSP00000465570:p.Gly26060Ala		179136003	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.53	2.860613	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91334	0.7267	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.92039	0.5639	9	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	18636;18761;18828;26060	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	25133;18636;18828;18761;18634	ENSP00000343764:G25133A;ENSP00000434586:G18636A;ENSP00000340554:G18828A;ENSP00000352154:G18761A	ENSP00000340554:G18828A	G	-	2	0	TTN	179136003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179428976	179428976	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179428976G>T	ENST00000591111.1	-	276	77184	c.76960C>A	c.(76960-76962)Ctt>Att	p.L25654I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18422I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L18230I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18355I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L27295I|TTN_ENST00000342992.6_Missense_Mutation_p.L24727I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25654	Ig-like 125.				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.L18230I(1)|p.L24725I(1)|p.L18422I(1)|p.L18355I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGGCTTCAAGAACAAAAGTC	0.398																																					p.F18229L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C54687A	2						.						153.0	152.0	152.0					2																	179428976		1906	4123	6029	179137222	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76960C>A	2.37:g.179428976G>T	ENSP00000465570:p.Leu25654Ile		179137222	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.15	2.151089	0.38021	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67757	0.2927	L	0.28458	0.855	0.50467	D	0.999874	B;B;B;B	0.32409	0.37;0.37;0.37;0.198	B;B;B;B	0.30316	0.114;0.114;0.114;0.114	T	0.67821	-0.5571	9	0.87932	D	0	.	20.6452	0.99591	0.0:0.0:1.0:0.0	.	18230;18355;18422;25654	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24727;18230;18422;18355;18228	ENSP00000343764:L24727I;ENSP00000434586:L18230I;ENSP00000340554:L18422I;ENSP00000352154:L18355I	ENSP00000340554:L18422I	L	-	1	0	TTN	179137222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.072000	0.71238	2.885000	0.99019	0.650000	0.86243	CTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179430354	179430354	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179430354G>T	ENST00000591111.1	-	276	75806	c.75582C>A	c.(75580-75582)gtC>gtA	p.V25194V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V17962V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.V17770V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V17895V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V26835V|TTN_ENST00000342992.6_Silent_p.V24267V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25194	Fibronectin type-III 83. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V17962V(1)|p.V24265V(1)|p.V17770V(1)|p.V17895V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCATTACAGACTTTGGATT	0.443																																					p.S17770Y												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C53309A	2						.						192.0	188.0	189.0					2																	179430354		1918	4146	6064	179138600	SO:0001819	synonymous_variant	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75582C>A	2.37:g.179430354G>T			179138600	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179431305	179431305	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179431305C>A	ENST00000591111.1	-	276	74855	c.74631G>T	c.(74629-74631)gaG>gaT	p.E24877D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17645D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17453D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17578D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26518D|TTN_ENST00000342992.6_Missense_Mutation_p.E23950D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24877	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E23948D(1)|p.E17453D(1)|p.E17578D(1)|p.E17645D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCCAAGATCTCACTGCCGC	0.428																																					p.R17453I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G52358T	2						.						169.0	171.0	170.0					2																	179431305		1882	4107	5989	179139551	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74631G>T	2.37:g.179431305C>A	ENSP00000465570:p.Glu24877Asp		179139551	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	9.921	1.212122	0.22289	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.78	0.69	0.18039	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25975	0.0633	N	0.25789	0.76	0.26121	N	0.980553	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.004;0.004;0.003	T	0.25293	-1.0136	9	0.87932	D	0	.	3.5814	0.07955	0.4329:0.3142:0.0:0.2529	.	17453;17578;17645;24877	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	23950;17453;17645;17578;17451	ENSP00000343764:E23950D;ENSP00000434586:E17453D;ENSP00000340554:E17645D;ENSP00000352154:E17578D	ENSP00000340554:E17645D	E	-	3	2	TTN	179139551	0.893000	0.30496	0.998000	0.56505	0.902000	0.53008	-0.019000	0.12546	0.315000	0.23110	0.561000	0.74099	GAG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179431523	179431523	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179431523G>T	ENST00000591111.1	-	276	74637	c.74413C>A	c.(74413-74415)Cta>Ata	p.L24805I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L17573I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17381I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17506I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L26446I|TTN_ENST00000342992.6_Missense_Mutation_p.L23878I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24805	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L17381I(1)|p.L17506I(1)|p.L23876I(1)|p.L17573I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACTCTTAGACGCAAATCT	0.403																																					p.V17380V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C52140A	2						.						76.0	76.0	76.0					2																	179431523		1863	4109	5972	179139769	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74413C>A	2.37:g.179431523G>T	ENSP00000465570:p.Leu24805Ile		179139769	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.919	0.960597	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.75	1.38	0.22167	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45316	0.1336	L	0.42245	1.32	0.28400	N	0.918691	B;B;B;P	0.43578	0.124;0.124;0.124;0.811	B;B;B;B	0.42386	0.074;0.074;0.133;0.386	T	0.40059	-0.9583	9	0.87932	D	0	.	8.5254	0.33302	0.5337:0.0:0.4663:0.0	.	17381;17506;17573;24805	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23878;17381;17573;17506;17379	ENSP00000343764:L23878I;ENSP00000434586:L17381I;ENSP00000340554:L17573I;ENSP00000352154:L17506I	ENSP00000340554:L17573I	L	-	1	2	TTN	179139769	1.000000	0.71417	0.215000	0.23724	0.871000	0.50021	3.932000	0.56537	0.346000	0.23899	-0.291000	0.09656	CTA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179431901	179431901	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179431901A>G	ENST00000591111.1	-	276	74259	c.74035T>C	c.(74035-74037)Tct>Cct	p.S24679P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S17447P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17255P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17380P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S26320P|TTN_ENST00000342992.6_Missense_Mutation_p.S23752P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24679	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S23750P(1)|p.S17255P(1)|p.S17447P(1)|p.S17380P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATAGTGAGAAATGTCACTG	0.453																																					p.F17254F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T51762C	2						.						110.0	111.0	110.0					2																	179431901		1904	4113	6017	179140147	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74035T>C	2.37:g.179431901A>G	ENSP00000465570:p.Ser24679Pro		179140147	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	11.96	1.795206	0.31777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.52	4.34	0.51931	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76863	0.4047	M	0.90814	3.15	0.44316	D	0.997199	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	P;P;P;P	0.62089	0.898;0.898;0.898;0.857	T	0.80520	-0.1346	9	0.87932	D	0	.	11.6256	0.51142	0.9292:0.0:0.0708:0.0	.	17255;17380;17447;24679	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	23752;17255;17447;17380;17253	ENSP00000343764:S23752P;ENSP00000434586:S17255P;ENSP00000340554:S17447P;ENSP00000352154:S17380P	ENSP00000340554:S17447P	S	-	1	0	TTN	179140147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.365000	0.79537	0.876000	0.35872	0.379000	0.24179	TCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179432012	179432012	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179432012C>A	ENST00000591111.1	-	276	74148	c.73924G>T	c.(73924-73926)Gta>Tta	p.V24642L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17410L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17218L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17343L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V26283L|TTN_ENST00000342992.6_Missense_Mutation_p.V23715L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24642					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.V17410L(1)|p.V23713L(1)|p.V17218L(1)|p.V17343L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTAATACTTTTACATTT	0.398																																					p.K17217N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G51651T	2						.						158.0	163.0	162.0					2																	179432012		1838	4079	5917	179140258	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73924G>T	2.37:g.179432012C>A	ENSP00000465570:p.Val24642Leu		179140258	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.01	2.707055	0.48412	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91872	0.7427	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.994;0.997	D;D;D;D	0.80764	0.994;0.978;0.978;0.994	D	0.93582	0.6913	9	0.87932	D	0	.	19.7238	0.96153	0.0:1.0:0.0:0.0	.	17218;17343;17410;24642	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23715;17218;17410;17343;17216	ENSP00000343764:V23715L;ENSP00000434586:V17218L;ENSP00000340554:V17410L;ENSP00000352154:V17343L	ENSP00000340554:V17410L	V	-	1	0	TTN	179140258	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.770000	0.85390	2.649000	0.89929	0.561000	0.74099	GTA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179432768	179432768	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179432768C>A	ENST00000591111.1	-	276	73392	c.73168G>T	c.(73168-73170)Gaa>Taa	p.E24390*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E17158*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E16966*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E17091*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E26031*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E23463*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24390	Fibronectin type-III 77. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E17091*(1)|p.E23461*(1)|p.E17158*(1)|p.E16966*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTTCTTTCTTTTCTCTCC	0.408																																					p.K16965N												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G50895T	2						.						96.0	88.0	91.0					2																	179432768		1871	4104	5975	179141014	SO:0001587	stop_gained	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73168G>T	2.37:g.179432768C>A	ENSP00000465570:p.Glu24390*		179141014	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	63	78.280969	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.71	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8823	0.70542	0.0:0.9307:0.0:0.0693	.	.	.	.	X	23463;16966;17158;17091;16964	.	ENSP00000340554:E17158X	E	-	1	0	TTN	179141014	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	1.400000	0.46741	0.650000	0.86243	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179433487	179433487	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179433487G>A	ENST00000591111.1	-	276	72673	c.72449C>T	c.(72448-72450)gCc>gTc	p.A24150V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A16918V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16726V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16851V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A25791V|TTN_ENST00000342992.6_Missense_Mutation_p.A23223V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24150	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A16851V(1)|p.A16726V(1)|p.A23221V(1)|p.A16918V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATCTTTGGCAACTATTGG	0.408																																					p.P16726S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C50176T	2						.						79.0	74.0	76.0					2																	179433487		1886	4104	5990	179141733	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72449C>T	2.37:g.179433487G>A	ENSP00000465570:p.Ala24150Val		179141733	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.87	2.367291	0.41902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.84	4.95	0.65309	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47691	0.1459	L	0.48642	1.525	0.58432	D	0.999994	B;B;B;B	0.24882	0.113;0.113;0.113;0.103	B;B;B;B	0.13407	0.009;0.009;0.009;0.006	T	0.47302	-0.9128	9	0.87932	D	0	.	15.3189	0.74105	0.0679:0.0:0.9321:0.0	.	16726;16851;16918;24150	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	23223;16726;16918;16851;16724	ENSP00000343764:A23223V;ENSP00000434586:A16726V;ENSP00000340554:A16918V;ENSP00000352154:A16851V	ENSP00000340554:A16918V	A	-	2	0	TTN	179141733	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.030000	0.88816	1.435000	0.47434	0.655000	0.94253	GCC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179445069	179445069	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179445069G>A	ENST00000591111.1	-	267	62338	c.62114C>T	c.(62113-62115)aCc>aTc	p.T20705I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13473I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13281I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13406I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22346I|TTN_ENST00000342992.6_Missense_Mutation_p.T19778I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20705					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.T13473I(1)|p.T19776I(1)|p.T13406I(1)|p.T13281I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAACAATGGTATATTCCTT	0.299																																					p.P13281S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C39841T	2						.						175.0	160.0	165.0					2																	179445069		1832	4081	5913	179153315	SO:0001583	missense	7273	exon145			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.62114C>T	2.37:g.179445069G>A	ENSP00000465570:p.Thr20705Ile		179153315	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.16	2.153921	0.38021	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78541	0.4299	M	0.78285	2.405	0.80722	D	1	P;P;P;P	0.51537	0.946;0.946;0.946;0.946	P;P;P;P	0.51974	0.566;0.566;0.566;0.686	T	0.81202	-0.1040	9	0.87932	D	0	.	19.7982	0.96494	0.0:0.0:1.0:0.0	.	13281;13406;13473;20705	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19778;13281;13473;13406;13279	ENSP00000343764:T19778I;ENSP00000434586:T13281I;ENSP00000340554:T13473I;ENSP00000352154:T13406I	ENSP00000340554:T13473I	T	-	2	0	TTN	179153315	1.000000	0.71417	0.923000	0.36655	0.813000	0.45954	9.799000	0.99117	2.675000	0.91044	0.563000	0.77884	ACC		0.299	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179449091	179449091	+	Silent	SNP	C	C	T	rs397517660	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179449091C>T	ENST00000591111.1	-	261	60488	c.60264G>A	c.(60262-60264)gaG>gaA	p.E20088E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.E12856E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.E12664E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.E12789E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.E21729E|TTN_ENST00000342992.6_Silent_p.E19161E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20088	Fibronectin type-III 45. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E19159E(1)|p.E12856E(1)|p.E12664E(1)|p.E12789E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATGAATACTCAAGACCTT	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.002				p.S12664N												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G37991A	2						.						115.0	113.0	114.0					2																	179449091		1918	4132	6050	179157337	SO:0001819	synonymous_variant	7273	exon139			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.60264G>A	2.37:g.179449091C>T			179157337	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179454575	179454575	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179454575C>T	ENST00000591111.1	-	254	57178	c.56954G>A	c.(56953-56955)cGa>cAa	p.R18985Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11753Q|TTN_ENST00000460472.2_Missense_Mutation_p.R11561Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11686Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20626Q|TTN_ENST00000342992.6_Missense_Mutation_p.R18058Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18985	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R18056Q(1)|p.R11686Q(1)|p.R11753Q(1)|p.R11561Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGATTAATCGTTTAGTGAC	0.398																																					p.D11561N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G34681A	2						.						178.0	162.0	167.0					2																	179454575		1862	4100	5962	179162821	SO:0001583	missense	7273	exon132			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56954G>A	2.37:g.179454575C>T	ENSP00000465570:p.Arg18985Gln		179162821	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.30	2.792013	0.50102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.1	6.1	0.99115	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67316	0.2880	L	0.37466	1.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.67193	-0.5732	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	11561;11686;11753;18985	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18058;11561;11753;11686;11559	ENSP00000343764:R18058Q;ENSP00000434586:R11561Q;ENSP00000340554:R11753Q;ENSP00000352154:R11686Q	ENSP00000340554:R11753Q	R	-	2	0	TTN	179162821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.992000	0.70609	2.902000	0.99343	0.650000	0.86243	CGA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179455319	179455319	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179455319G>A	ENST00000591111.1	-	254	56434	c.56210C>T	c.(56209-56211)cCt>cTt	p.P18737L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11505L|TTN_ENST00000460472.2_Missense_Mutation_p.P11313L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11438L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P20378L|TTN_ENST00000342992.6_Missense_Mutation_p.P17810L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18737	Fibronectin type-III 36. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P11313L(1)|p.P11505L(1)|p.P11438L(1)|p.P17808L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTTTAGGATTAATAGG	0.453																																					p.L11313L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C33937T	2						.						98.0	98.0	98.0					2																	179455319		1897	4111	6008	179163565	SO:0001583	missense	7273	exon132			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56210C>T	2.37:g.179455319G>A	ENSP00000465570:p.Pro18737Leu		179163565	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	13.63	2.293535	0.40594	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.11	6.11	0.99139	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56156	0.1966	L	0.28192	0.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.57057	-0.7876	9	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	11313;11438;11505;18737	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	17810;11313;11505;11438;11311	ENSP00000343764:P17810L;ENSP00000434586:P11313L;ENSP00000340554:P11505L;ENSP00000352154:P11438L	ENSP00000340554:P11505L	P	-	2	0	TTN	179163565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.728000	0.98792	2.906000	0.99361	0.655000	0.94253	CCT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179457237	179457237	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179457237C>T	ENST00000591111.1	-	251	54796	c.54572G>A	c.(54571-54573)aGa>aAa	p.R18191K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10959K|TTN_ENST00000460472.2_Missense_Mutation_p.R10767K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10892K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19832K|TTN_ENST00000342992.6_Missense_Mutation_p.R17264K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18191	Ig-like 105.				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.R10959K(1)|p.R17262K(1)|p.R10767K(1)|p.R10892K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAATTCTTGCTTTAGT	0.403																																					p.E10767K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G32299A	2						.						295.0	273.0	280.0					2																	179457237		1901	4118	6019	179165483	SO:0001583	missense	7273	exon129			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.54572G>A	2.37:g.179457237C>T	ENSP00000465570:p.Arg18191Lys		179165483	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.24	1.879675	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	6.03	1.69	0.24217	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34571	0.0902	L	0.39245	1.2	0.21256	N	0.999744	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.15870	0.014;0.014;0.014;0.014	T	0.34551	-0.9824	9	0.87932	D	0	.	3.4919	0.07641	0.0:0.3071:0.2092:0.4837	.	10767;10892;10959;18191	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17264;10767;10959;10892;10765	ENSP00000343764:R17264K;ENSP00000434586:R10767K;ENSP00000340554:R10959K;ENSP00000352154:R10892K	ENSP00000340554:R10959K	R	-	2	0	TTN	179165483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.745000	0.47459	0.427000	0.26145	0.557000	0.71058	AGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179457755	179457755	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179457755G>A	ENST00000591111.1	-	250	54392	c.54168C>T	c.(54166-54168)gtC>gtT	p.V18056V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V10824V|TTN_ENST00000460472.2_Silent_p.V10632V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V10757V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V19697V|TTN_ENST00000342992.6_Silent_p.V17129V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18056	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V17127V(1)|p.V10632V(1)|p.V10757V(1)|p.V10824V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTTAGATCGACTGAATTGC	0.393																																					p.S10632L												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C31895T	2						.						125.0	121.0	122.0					2																	179457755		1908	4136	6044	179166001	SO:0001819	synonymous_variant	7273	exon128			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54168C>T	2.37:g.179457755G>A			179166001	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179458544	179458544	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179458544C>A	ENST00000591111.1	-	248	53784	c.53560G>T	c.(53560-53562)Gat>Tat	p.D17854Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10622Y|TTN_ENST00000460472.2_Missense_Mutation_p.D10430Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10555Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19495Y|TTN_ENST00000342992.6_Missense_Mutation_p.D16927Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17854	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D10555Y(1)|p.D16925Y(1)|p.D10430Y(1)|p.D10622Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATGTAATCTTTGGTCACC	0.398																																					p.K10429N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G31287T	2						.						56.0	53.0	54.0					2																	179458544		1842	4089	5931	179166790	SO:0001583	missense	7273	exon126			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.53560G>T	2.37:g.179458544C>A	ENSP00000465570:p.Asp17854Tyr		179166790	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.72	2.320391	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.86	5.86	0.93980	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79992	0.4542	M	0.91612	3.225	0.44104	D	0.996875	P;P;P;P	0.45474	0.859;0.859;0.859;0.859	P;P;P;P	0.55455	0.641;0.641;0.776;0.776	T	0.82682	-0.0336	9	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	10430;10555;10622;17854	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	16927;10430;10622;10555;10428	ENSP00000343764:D16927Y;ENSP00000434586:D10430Y;ENSP00000340554:D10622Y;ENSP00000352154:D10555Y	ENSP00000340554:D10622Y	D	-	1	0	TTN	179166790	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	3.871000	0.56077	2.937000	0.99478	0.650000	0.86243	GAT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179462764	179462764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179462764C>A	ENST00000591111.1	-	243	52434	c.52210G>T	c.(52210-52212)Gga>Tga	p.G17404*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G10172*|TTN_ENST00000460472.2_Nonsense_Mutation_p.G9980*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G10105*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.G19045*|TTN_ENST00000342992.6_Nonsense_Mutation_p.G16477*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17404	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G16475*(1)|p.G9980*(1)|p.G10105*(1)|p.G10172*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTGTTCCTCTCACTTCT	0.388																																					p.G9980X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G29938T	2						.						230.0	226.0	227.0					2																	179462764		1833	4088	5921	179171009	SO:0001587	stop_gained	7273	exon121			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.52210G>T	2.37:g.179462764C>A	ENSP00000465570:p.Gly17404*		179171009	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	60	49.352308	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	16477;9980;10172;10105;9978	.	ENSP00000340554:G10172X	G	-	1	0	TTN	179171009	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.686000	0.84128	2.941000	0.99782	0.655000	0.94253	GGA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179463639	179463639	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179463639C>A	ENST00000591111.1	-	241	52099	c.51875G>T	c.(51874-51876)aGa>aTa	p.R17292I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R10060I|TTN_ENST00000460472.2_Missense_Mutation_p.R9868I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9993I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18933I|TTN_ENST00000342992.6_Missense_Mutation_p.R16365I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17292	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9993I(1)|p.R10060I(1)|p.R9868I(1)|p.R16363I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGGTTAACTCTCTTCCATCT	0.443																																					p.R9868I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G29603T	2						.						110.0	108.0	109.0					2																	179463639		1880	4116	5996	179171884	SO:0001583	missense	7273	exon119			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.51875G>T	2.37:g.179463639C>A	ENSP00000465570:p.Arg17292Ile		179171884	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.72	3.202523	0.58234	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71178	0.3309	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.71020	-0.4713	9	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	9868;9993;10060;17292	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	16365;9868;10060;9993;9866	ENSP00000343764:R16365I;ENSP00000434586:R9868I;ENSP00000340554:R10060I;ENSP00000352154:R9993I	ENSP00000340554:R10060I	R	-	2	0	TTN	179171884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.922000	0.63404	2.843000	0.97960	0.650000	0.86243	AGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179469984	179469984	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179469984C>A	ENST00000591111.1	-	230	49221	c.48997G>T	c.(48997-48999)Gac>Tac	p.D16333Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9101Y|TTN_ENST00000460472.2_Missense_Mutation_p.D8909Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9034Y|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D17974Y|TTN_ENST00000342992.6_Missense_Mutation_p.D15406Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16333	Ig-like 100.				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.D9101Y(1)|p.D8909Y(1)|p.D15406Y(1)|p.D9034Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATAGTGTCTCCTCGAACA	0.408																																					p.D8909Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G26725T	2						.						31.0	30.0	30.0					2																	179469984		1885	4097	5982	179178229	SO:0001583	missense	7273	exon108			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.48997G>T	2.37:g.179469984C>A	ENSP00000465570:p.Asp16333Tyr		179178229	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.22	2.470604	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69251	0.3090	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.72107	-0.4390	9	0.87932	D	0	.	19.9346	0.97133	0.0:1.0:0.0:0.0	.	8909;9034;9101;16333	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	15406;8909;9101;9034;8909	ENSP00000343764:D15406Y;ENSP00000434586:D8909Y;ENSP00000340554:D9101Y;ENSP00000352154:D9034Y	ENSP00000340554:D9101Y	D	-	1	0	TTN	179178229	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.371000	0.34250	2.712000	0.92718	0.563000	0.77884	GAC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179471809	179471809	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179471809C>A	ENST00000591111.1	-	228	48821	c.48597G>T	c.(48595-48597)aaG>aaT	p.K16199N	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8967N|TTN_ENST00000460472.2_Missense_Mutation_p.K8775N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8900N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17840N|TTN_ENST00000342992.6_Missense_Mutation_p.K15272N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16199	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K8775N(1)|p.K8967N(1)|p.K8900N(1)|p.K15272N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAACTTGTTCTTGGCAATAA	0.403																																					p.K8775N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G26325T	2						.						179.0	173.0	175.0					2																	179471809		1892	4118	6010	179180054	SO:0001583	missense	7273	exon106			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.48597G>T	2.37:g.179471809C>A	ENSP00000465570:p.Lys16199Asn		179180054	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.63	1.404359	0.25378	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.35	4.47	0.54385	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62073	0.2398	L	0.42581	1.335	0.45621	D	0.998552	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	T	0.64123	-0.6481	9	0.87932	D	0	.	10.0066	0.41961	0.0:0.8466:0.0:0.1534	.	8775;8900;8967;16199	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	15272;8775;8967;8900;8775	ENSP00000343764:K15272N;ENSP00000434586:K8775N;ENSP00000340554:K8967N;ENSP00000352154:K8900N	ENSP00000340554:K8967N	K	-	3	2	TTN	179180054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.152000	0.42272	1.258000	0.44101	0.561000	0.74099	AAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179471993	179471993	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179471993T>G	ENST00000591111.1	-	228	48637	c.48413A>C	c.(48412-48414)aAa>aCa	p.K16138T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8906T|TTN_ENST00000460472.2_Missense_Mutation_p.K8714T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8839T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17779T|TTN_ENST00000342992.6_Missense_Mutation_p.K15211T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16138	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K8714T(1)|p.K15211T(1)|p.K8906T(1)|p.K8839T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGACACATTTTTCTGTTTGT	0.363																																					p.K8714T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A26141C	2						.						107.0	99.0	102.0					2																	179471993		1854	4093	5947	179180238	SO:0001583	missense	7273	exon106			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.48413A>C	2.37:g.179471993T>G	ENSP00000465570:p.Lys16138Thr		179180238	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	13.18	2.161602	0.38119	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.99	5.99	0.97316	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52075	0.1712	N	0.11000	0.08	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.62412	-0.6860	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	8714;8839;8906;16138	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15211;8714;8906;8839;8714	ENSP00000343764:K15211T;ENSP00000434586:K8714T;ENSP00000340554:K8906T;ENSP00000352154:K8839T	ENSP00000340554:K8906T	K	-	2	0	TTN	179180238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.991000	0.88244	2.291000	0.77112	0.533000	0.62120	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179474276	179474276	+	Missense_Mutation	SNP	C	C	A	rs370986897		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179474276C>A	ENST00000591111.1	-	223	47062	c.46838G>T	c.(46837-46839)aGa>aTa	p.R15613I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8381I|TTN_ENST00000460472.2_Missense_Mutation_p.R8189I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8314I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17254I|TTN_ENST00000342992.6_Missense_Mutation_p.R14686I			Q8WZ42	TITIN_HUMAN	titin	15613	Ig-like 98.				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.R8189I(1)|p.R14686I(1)|p.R8314I(1)|p.R8381I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGCTTGTTCTCAGAATGAC	0.323																																					p.R8189I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G24566T	2						.						112.0	106.0	108.0					2																	179474276		1854	4099	5953	179182521	SO:0001583	missense	7273	exon101			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.46838G>T	2.37:g.179474276C>A	ENSP00000465570:p.Arg15613Ile		179182521	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	11.95	1.790148	0.31685	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.22;0.19;0.18	5.85	4.05	0.47172	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55369	0.1916	L	0.51422	1.61	0.41040	D	0.98522	B;B;B;B	0.21381	0.055;0.055;0.055;0.055	B;B;B;B	0.27170	0.041;0.041;0.077;0.077	T	0.54788	-0.8241	9	0.87932	D	0	.	7.8608	0.29509	0.0:0.6203:0.2272:0.1526	.	8189;8314;8381;15613	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	14686;8189;8381;8314;8189	ENSP00000343764:R14686I;ENSP00000434586:R8189I;ENSP00000340554:R8381I;ENSP00000352154:R8314I	ENSP00000340554:R8381I	R	-	2	0	TTN	179182521	0.340000	0.24792	1.000000	0.80357	0.997000	0.91878	-0.131000	0.10482	0.796000	0.33947	0.655000	0.94253	AGA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179476863	179476863	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179476863C>T	ENST00000591111.1	-	217	45576	c.45352G>A	c.(45352-45354)Gca>Aca	p.A15118T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7886T|TTN_ENST00000460472.2_Missense_Mutation_p.A7694T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7819T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16759T|TTN_ENST00000342992.6_Missense_Mutation_p.A14191T			Q8WZ42	TITIN_HUMAN	titin	15118	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A7886T(1)|p.A7819T(1)|p.A14191T(1)|p.A7694T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACCACTGCCAGGGCGTAG	0.408																																					p.A7694T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G23080A	2						.						83.0	74.0	77.0					2																	179476863		1882	4099	5981	179185108	SO:0001583	missense	7273	exon95			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.45352G>A	2.37:g.179476863C>T	ENSP00000465570:p.Ala15118Thr		179185108	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	10.94	1.492370	0.26774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.17	-8.11	0.01082	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21062	0.0507	N	0.01410	-0.885	0.09310	N	0.999992	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.41034	-0.9531	9	0.87932	D	0	.	11.5412	0.50667	0.0873:0.4905:0.0:0.4221	.	7694;7819;7886;15118	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	14191;7694;7886;7819;7694	ENSP00000343764:A14191T;ENSP00000434586:A7694T;ENSP00000340554:A7886T;ENSP00000352154:A7819T	ENSP00000340554:A7886T	A	-	1	0	TTN	179185108	0.000000	0.05858	0.338000	0.25549	0.890000	0.51754	-0.334000	0.07883	-1.308000	0.02318	-0.136000	0.14681	GCA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179478881	179478881	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179478881A>T	ENST00000591111.1	-	212	44544	c.44320T>A	c.(44320-44322)Tta>Ata	p.L14774I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7542I|TTN_ENST00000460472.2_Missense_Mutation_p.L7350I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7475I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16415I|TTN_ENST00000342992.6_Missense_Mutation_p.L13847I			Q8WZ42	TITIN_HUMAN	titin	14774	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L7350I(1)|p.L7475I(1)|p.L7542I(1)|p.L13847I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGGATTAATTTGGTGGCC	0.428																																					p.L7350I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T22048A	2						.						158.0	148.0	151.0					2																	179478881		1921	4131	6052	179187126	SO:0001583	missense	7273	exon90			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.44320T>A	2.37:g.179478881A>T	ENSP00000465570:p.Leu14774Ile		179187126	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.22	2.171957	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94311	0.8172	H	0.96576	3.845	0.40706	D	0.982523	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.95322	0.8421	9	0.87932	D	0	.	8.8507	0.35199	0.8615:0.0:0.1385:0.0	.	7350;7475;7542;14774	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	13847;7350;7542;7475;7350	ENSP00000343764:L13847I;ENSP00000434586:L7350I;ENSP00000340554:L7542I;ENSP00000352154:L7475I	ENSP00000340554:L7542I	L	-	1	2	TTN	179187126	0.937000	0.31787	1.000000	0.80357	0.887000	0.51463	1.820000	0.39032	2.326000	0.78906	0.533000	0.62120	TTA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179481881	179481881	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179481881T>A	ENST00000591111.1	-	205	43142	c.42918A>T	c.(42916-42918)gaA>gaT	p.E14306D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7074D|TTN_ENST00000460472.2_Missense_Mutation_p.E6882D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7007D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15947D|TTN_ENST00000342992.6_Missense_Mutation_p.E13379D|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14306	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13379D(1)|p.E7007D(1)|p.E6882D(1)|p.E7074D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCAAGAATTTCAGATGGAT	0.353																																					p.E6882D												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A20646T	2						.						67.0	62.0	64.0					2																	179481881		1849	4092	5941	179190126	SO:0001583	missense	7273	exon83			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42918A>T	2.37:g.179481881T>A	ENSP00000465570:p.Glu14306Asp		179190126	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	10.55	1.380390	0.24944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.76	1.32	0.21799	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28532	0.0706	L	0.33710	1.025	0.33643	D	0.607449	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.25950	-1.0117	9	0.87932	D	0	.	5.4503	0.16560	0.1498:0.3009:0.0:0.5493	.	6882;7007;7074;14306	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	13379;6882;7074;7007;6882	ENSP00000343764:E13379D;ENSP00000434586:E6882D;ENSP00000340554:E7074D;ENSP00000352154:E7007D	ENSP00000340554:E7074D	E	-	3	2	TTN	179190126	0.993000	0.37304	1.000000	0.80357	0.993000	0.82548	0.359000	0.20233	0.309000	0.22966	-0.256000	0.11100	GAA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179482566	179482566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179482566G>A	ENST00000591111.1	-	203	42813	c.42589C>T	c.(42589-42591)Cga>Tga	p.R14197*	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R6965*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R6773*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R6898*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R15838*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13270*|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6965*(1)|p.R6773*(1)|p.R13270*(1)|p.R6898*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCAATTCGATTTTGGGCT	0.453																																					p.R6773X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C20317T	2						.						168.0	159.0	162.0					2																	179482566		1961	4158	6119	179190811	SO:0001587	stop_gained	7273	exon81			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.42589C>T	2.37:g.179482566G>A	ENSP00000465570:p.Arg14197*		179190811	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	58	33.214130	0.99981	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.63	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1415	0.81528	0.0:0.0:0.4471:0.5529	.	.	.	.	X	13270;6773;6965;6898;6773	.	ENSP00000340554:R6965X	R	-	1	2	TTN	179190811	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.250000	0.32850	0.369000	0.24510	-0.169000	0.13324	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179484735	179484735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179484735C>T	ENST00000591111.1	-	199	41710	c.41486G>A	c.(41485-41487)cGt>cAt	p.R13829H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6597H|TTN_ENST00000460472.2_Missense_Mutation_p.R6405H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6530H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15470H|TTN_ENST00000342992.6_Missense_Mutation_p.R12902H|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13829	Ig-like 94.				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.R6405H(1)|p.R12902H(1)|p.R6530H(1)|p.R6597H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCTAGCACGAGACTTCCT	0.308																																					p.R6405H												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G19214A	2						.						98.0	90.0	92.0					2																	179484735		1832	4102	5934	179192980	SO:0001583	missense	7273	exon77			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41486G>A	2.37:g.179484735C>T	ENSP00000465570:p.Arg13829His		179192980	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.50	2.850568	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85932	0.5812	L	0.47078	1.49	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.86061	0.1532	9	0.87932	D	0	.	20.2886	0.98538	0.0:1.0:0.0:0.0	.	6405;6530;6597;13829	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	12902;6405;6597;6530;6405	ENSP00000343764:R12902H;ENSP00000434586:R6405H;ENSP00000340554:R6597H;ENSP00000352154:R6530H	ENSP00000340554:R6597H	R	-	2	0	TTN	179192980	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	7.718000	0.84743	2.882000	0.98803	0.655000	0.94253	CGT		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179516230	179516230	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179516230T>G	ENST00000591111.1	-	162	35200	c.34976A>C	c.(34975-34977)aAg>aCg	p.K11659T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K13166T|TTN_ENST00000342992.6_Missense_Mutation_p.K10732T			Q8WZ42	TITIN_HUMAN	titin	11659	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K10732T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCACCTTCTTTTCAGGAAC	0.473																																					p.K10732T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A32195C	2						.						65.0	63.0	63.0					2																	179516230		1836	4081	5917	179224475	SO:0001583	missense	7273	exon161			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.34976A>C	2.37:g.179516230T>G	ENSP00000465570:p.Lys11659Thr		179224475	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.33|16.33	3.092979|3.092979	0.56075|0.56075	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966	.|D;D	.|0.81579	.|-1.51;-1.51	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	D|D	0.84683|0.84683	0.5526|0.5526	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|P	.|0.42078	.|0.77	.|P	.|0.48598	.|0.583	D|D	0.86825|0.86825	0.2007|0.2007	5|9	.|0.87932	.|D	.|0	.|.	15.3938|15.3938	0.74774|0.74774	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|11659	.|Q8WZ42	.|TITIN_HUMAN	N|T	6|10732;5;5	.|ENSP00000343764:K10732T;ENSP00000408004:K5T	.|ENSP00000343764:K10732T	K|K	-|-	3|2	2|0	TTN|TTN	179224475|179224475	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.691000|2.691000	0.47010|0.47010	2.094000|2.094000	0.63399|0.63399	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179516427	179516427	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179516427G>A	ENST00000591111.1	-	161	35132	c.34908C>T	c.(34906-34908)gtC>gtT	p.V11636V	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.V13143V|TTN_ENST00000342992.6_Silent_p.V10709V			Q8WZ42	TITIN_HUMAN	titin	11636	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V10709V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGCAACGACAGCAGGTG	0.393																																					p.V10709V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C32127T	2						.						123.0	114.0	117.0					2																	179516427		1870	4103	5973	179224672	SO:0001819	synonymous_variant	7273	exon160			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.34908C>T	2.37:g.179516427G>A			179224672	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179535881	179535881	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179535881C>A	ENST00000591111.1	-	152	34346	c.34122G>T	c.(34120-34122)gaG>gaT	p.E11374D	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11748D|TTN_ENST00000342992.6_Missense_Mutation_p.E10447D			Q8WZ42	TITIN_HUMAN	titin	11374	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E50D(1)|p.E10447D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATGATTTTCTCAGATATCT	0.368																																					p.E10447D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G31341T	2						.						109.0	95.0	99.0					2																	179535881		1792	4062	5854	179244126	SO:0001583	missense	7273	exon151			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.34122G>T	2.37:g.179535881C>A	ENSP00000465570:p.Glu11374Asp		179244126	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.70|15.70	2.909563|2.909563	0.52439|0.52439	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000541862|ENST00000448510	T|.	0.65732|.	-0.17|.	5.93|5.93	5.05|5.05	0.67936|0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|.	0.39462|.	0.1079|.	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.16722|.	0.016|.	T|.	0.18085|.	-1.0348|.	9|.	0.87932|0.11794	D|T	0|0.64	.|.	9.3537|9.3537	0.38153|0.38153	0.0:0.7799:0.0:0.2201|0.0:0.7799:0.0:0.2201	.|.	11374|.	Q8WZ42|.	TITIN_HUMAN|.	D|X	10447;50|106	ENSP00000343764:E10447D|.	ENSP00000343764:E10447D|ENSP00000399176:E106X	E|E	-|-	3|1	2|0	TTN|TTN	179244126|179244126	0.649000|0.649000	0.27322|0.27322	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.310000|0.310000	0.19356|0.19356	1.510000|1.510000	0.48803|0.48803	0.563000|0.563000	0.77884|0.77884	GAG|GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179542573	179542573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179542573C>A	ENST00000591111.1	-	144	33339	c.33115G>T	c.(33115-33117)Gaa>Taa	p.E11039*	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E11356*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*			Q8WZ42	TITIN_HUMAN	titin	10179	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E10112*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACAATTTCTTCTTCAAAT	0.408																																					p.E10112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G30334T	2						.						88.0	87.0	87.0					2																	179542573		1838	4083	5921	179250818	SO:0001587	stop_gained	7273	exon143			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33115G>T	2.37:g.179542573C>A	ENSP00000465570:p.Glu11039*		179250818	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	60	47.406482	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9098	0.19020	0.141:0.648:0.1364:0.0746	.	.	.	.	X	10112	.	ENSP00000343764:E10112X	E	-	1	0	TTN	179250818	0.074000	0.21230	1.000000	0.80357	0.390000	0.30446	0.500000	0.22562	2.878000	0.98634	0.650000	0.86243	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179547473	179547473	+	Silent	SNP	G	G	A	rs369046627		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179547473G>A	ENST00000591111.1	-	133	32318	c.32094C>T	c.(32092-32094)taC>taT	p.Y10698Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.Y11015Y|TTN_ENST00000342992.6_Silent_p.Y9771Y			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y9771Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCGCTCCTCGTATTCTTCAT	0.363																																					p.Y9771Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C29313T	2						.						304.0	284.0	290.0					2																	179547473		1881	4099	5980	179255718	SO:0001819	synonymous_variant	7273	exon132			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32094C>T	2.37:g.179547473G>A			179255718	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179550274	179550274	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179550274G>T	ENST00000591111.1	-	126	31636	c.31412C>A	c.(31411-31413)tCt>tAt	p.S10471Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S10788Y|TTN_ENST00000342992.6_Missense_Mutation_p.S9544Y			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S9544F(2)|p.S9544Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCTCTTAGAAATAATGTG	0.358																																					p.S9544Y												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C28631A	2						.						105.0	101.0	102.0					2																	179550274		1903	4119	6022	179258519	SO:0001583	missense	7273	exon125			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.31412C>A	2.37:g.179550274G>T	ENSP00000465570:p.Ser10471Tyr		179258519	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.92	2.679047	0.47886	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54415	0.1857	N	0.22421	0.69	0.80722	D	1	B	0.31009	0.303	B	0.33890	0.172	T	0.56565	-0.7958	9	0.87932	D	0	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	10471	Q8WZ42	TITIN_HUMAN	Y	9544	ENSP00000343764:S9544Y	ENSP00000343764:S9544Y	S	-	2	0	TTN	179258519	1.000000	0.71417	0.555000	0.28281	0.971000	0.66376	4.816000	0.62642	2.824000	0.97209	0.655000	0.94253	TCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179571337	179571337	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179571337T>G	ENST00000591111.1	-	100	28537	c.28313A>C	c.(28312-28314)aAa>aCa	p.K9438T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K9755T|TTN_ENST00000342992.6_Missense_Mutation_p.K8511T			Q8WZ42	TITIN_HUMAN	titin	13534	Ig-like 77.				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.K8511T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTCCAGTTTTGCTTCATC	0.433																																					p.K8511T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A25532C	2						.						182.0	178.0	179.0					2																	179571337		1909	4134	6043	179279582	SO:0001583	missense	7273	exon99			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.28313A>C	2.37:g.179571337T>G	ENSP00000465570:p.Lys9438Thr		179279582	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	15.60	2.881035	0.51801	.	.	ENSG00000155657	ENST00000342992	T	0.63096	-0.02	6.1	6.1	0.99115	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61726	0.2370	N	0.04508	-0.205	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.72779	-0.4190	9	0.87932	D	0	.	16.686	0.85306	0.0:0.0:0.0:1.0	.	9438	Q8WZ42	TITIN_HUMAN	T	8511	ENSP00000343764:K8511T	ENSP00000343764:K8511T	K	-	2	0	TTN	179279582	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.072000	0.57563	2.340000	0.79590	0.528000	0.53228	AAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179571633	179571633	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179571633C>A	ENST00000591111.1	-	99	28363	c.28139G>T	c.(28138-28140)aGa>aTa	p.R9380I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R9697I|TTN_ENST00000342992.6_Missense_Mutation_p.R8453I			Q8WZ42	TITIN_HUMAN	titin	13480	Ig-like 77.				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.R8453I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAAAGAGTCTTCCATCTAC	0.378																																					p.R8453I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25358T	2						.						55.0	52.0	53.0					2																	179571633		1864	4107	5971	179279878	SO:0001583	missense	7273	exon98			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.28139G>T	2.37:g.179571633C>A	ENSP00000465570:p.Arg9380Ile		179279878	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.37	2.215723	0.39102	.	.	ENSG00000155657	ENST00000342992	T	0.61158	0.13	6.16	2.1	0.27182	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.40247	0.1109	N	0.19112	0.55	0.80722	D	1	B	0.18863	0.031	B	0.17098	0.017	T	0.18398	-1.0338	9	0.87932	D	0	.	8.7796	0.34783	0.0:0.2599:0.0:0.7401	.	9380	Q8WZ42	TITIN_HUMAN	I	8453	ENSP00000343764:R8453I	ENSP00000343764:R8453I	R	-	2	0	TTN	179279878	0.997000	0.39634	0.704000	0.30370	0.617000	0.37484	1.819000	0.39022	0.118000	0.18165	0.650000	0.86243	AGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179575504	179575504	+	Silent	SNP	G	G	A	rs375083775		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179575504G>A	ENST00000591111.1	-	96	27593	c.27369C>T	c.(27367-27369)ggC>ggT	p.G9123G	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.G9440G|TTN_ENST00000342992.6_Silent_p.G8196G			Q8WZ42	TITIN_HUMAN	titin	13254	Ig-like 74.				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.G8196G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACTTTCCGCCACTTCGTA	0.488																																					p.G8196G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24588T	2						.	G	,,,	1,3979		0,1,1989	148.0	143.0	144.0		,24588,,	-12.3	0.4	2		144	0,8340		0,0,4170	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6159	AA,AG,GG		0.0,0.0251,0.0081	,,,	,8196/33424,,	179575504	1,12319	1990	4170	6160	179283749	SO:0001819	synonymous_variant	7273	exon95			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.27369C>T	2.37:g.179575504G>A			179283749	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179577163	179577163	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179577163C>T	ENST00000591111.1	-	93	26759	c.26535G>A	c.(26533-26535)acG>acA	p.T8845T	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.T9162T|TTN_ENST00000342992.6_Silent_p.T7918T			Q8WZ42	TITIN_HUMAN	titin	12994	Ig-like 71.				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.T7918T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTCAGTCGTAGTTATAT	0.413																																					p.T7918T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G23754A	2						.						105.0	105.0	105.0					2																	179577163		1850	4106	5956	179285408	SO:0001819	synonymous_variant	7273	exon92			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.26535G>A	2.37:g.179577163C>T			179285408	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579140	179579140	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179579140A>C	ENST00000591111.1	-	89	25634	c.25410T>G	c.(25408-25410)taT>taG	p.Y8470*	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y8787*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y7543*			Q8WZ42	TITIN_HUMAN	titin	12638	Ig-like 67.				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.Y7543*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTGAATAAGAAATCC	0.418																																					p.Y7543X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T22629G	2						.						92.0	86.0	88.0					2																	179579140		1855	4092	5947	179287385	SO:0001587	stop_gained	7273	exon88			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.25410T>G	2.37:g.179579140A>C	ENSP00000465570:p.Tyr8470*		179287385	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	59	36.354107	0.99983	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.96	0.534	0.17127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0105	0.47659	0.6826:0.0:0.3174:0.0	.	.	.	.	X	7543	.	ENSP00000343764:Y7543X	Y	-	3	2	TTN	179287385	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.259000	0.43259	-0.129000	0.11620	0.533000	0.62120	TAT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579257	179579257	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179579257G>A	ENST00000591111.1	-	89	25517	c.25293C>T	c.(25291-25293)gtC>gtT	p.V8431V	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.V8748V|TTN_ENST00000342992.6_Silent_p.V7504V			Q8WZ42	TITIN_HUMAN	titin	12602	Ig-like 67.				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.V7504V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTACCAACGACAGTAGATA	0.423																																					p.V7504V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C22512T	2						.						56.0	50.0	52.0					2																	179579257		1852	4107	5959	179287502	SO:0001819	synonymous_variant	7273	exon88			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.25293C>T	2.37:g.179579257G>A			179287502	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179584460	179584460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179584460G>A	ENST00000591111.1	-	80	23032	c.22808C>T	c.(22807-22809)gCc>gTc	p.A7603V	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A7920V|TTN_ENST00000342992.6_Missense_Mutation_p.A6676V			Q8WZ42	TITIN_HUMAN	titin	13153	Ig-like 58.				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.A6676V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCACTTGGCTGAGAGTTC	0.438																																					p.A6676V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20027T	2						.						131.0	122.0	125.0					2																	179584460		1894	4112	6006	179292705	SO:0001583	missense	7273	exon79			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.22808C>T	2.37:g.179584460G>A	ENSP00000465570:p.Ala7603Val		179292705	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.670	1.146562	0.21288	.	.	ENSG00000155657	ENST00000342992	T	0.54279	0.58	6.08	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23249	0.0562	N	0.00652	-1.29	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.26849	-1.0091	9	0.87932	D	0	.	11.0696	0.47995	0.2065:0.0:0.7935:0.0	.	7603	Q8WZ42	TITIN_HUMAN	V	6676	ENSP00000343764:A6676V	ENSP00000343764:A6676V	A	-	2	0	TTN	179292705	0.152000	0.22762	0.996000	0.52242	0.848000	0.48234	1.699000	0.37804	0.409000	0.25649	0.655000	0.94253	GCC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179585317	179585317	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179585317T>C	ENST00000591111.1	-	78	22445	c.22221A>G	c.(22219-22221)gaA>gaG	p.E7407E	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E7724E|TTN_ENST00000342992.6_Silent_p.E6480E|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12967	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E6480E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCGAAATTTCACATTGGA	0.383																																					p.E6480E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A19440G	2						.						54.0	48.0	50.0					2																	179585317		1806	4070	5876	179293562	SO:0001819	synonymous_variant	7273	exon77			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22221A>G	2.37:g.179585317T>C			179293562	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179588030	179588030	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179588030C>A	ENST00000591111.1	-	73	20977	c.20753G>T	c.(20752-20754)aGa>aTa	p.R6918I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R7235I|TTN_ENST00000342992.6_Missense_Mutation_p.R5991I|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12506	Ig-like 51.				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.R5991I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCACTTAATCTCTTCAAAAA	0.383																																					p.R5991I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17972T	2						.						85.0	81.0	82.0					2																	179588030		1880	4116	5996	179296275	SO:0001583	missense	7273	exon72			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.20753G>T	2.37:g.179588030C>A	ENSP00000465570:p.Arg6918Ile		179296275	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	8.899	0.955886	0.18507	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.06	2.43	0.29744	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57548	0.2061	L	0.54323	1.7	0.58432	D	0.999998	B	0.30793	0.295	B	0.35655	0.207	T	0.55082	-0.8196	9	0.87932	D	0	.	9.0315	0.36262	0.0:0.2207:0.0:0.7793	.	6918	Q8WZ42	TITIN_HUMAN	I	5991	ENSP00000343764:R5991I	ENSP00000343764:R5991I	R	-	2	0	TTN	179296275	0.973000	0.33851	0.839000	0.33178	0.983000	0.72400	1.789000	0.38724	0.175000	0.19841	-0.312000	0.09012	AGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179593325	179593325	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179593325C>A	ENST00000591111.1	-	64	18601	c.18377G>T	c.(18376-18378)aGa>aTa	p.R6126I	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R6443I|TTN_ENST00000342992.6_Missense_Mutation_p.R5199I|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12913	Ig-like 42.				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.R5199I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTGAATTCTAAAACTGGC	0.413																																					p.R5199I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15596T	2						.						66.0	60.0	62.0					2																	179593325		1870	4112	5982	179301570	SO:0001583	missense	7273	exon63			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.18377G>T	2.37:g.179593325C>A	ENSP00000465570:p.Arg6126Ile		179301570	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.62	1.993149	0.35131	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73385	0.3580	L	0.28556	0.865	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.75602	-0.3261	9	0.87932	D	0	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	6126	Q8WZ42	TITIN_HUMAN	I	5199	ENSP00000343764:R5199I	ENSP00000343764:R5199I	R	-	2	0	TTN	179301570	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.202000	0.58446	2.826000	0.97356	0.655000	0.94253	AGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179596553	179596553	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179596553A>G	ENST00000591111.1	-	56	16322	c.16098T>C	c.(16096-16098)taT>taC	p.Y5366Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.Y5683Y|TTN_ENST00000342992.6_Silent_p.Y4439Y			Q8WZ42	TITIN_HUMAN	titin	12186	Ig-like 34.				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.Y4439Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAAGTCTTATACTTTCTAC	0.488																																					p.Y4439Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T13317C	2						.						125.0	129.0	128.0					2																	179596553		1998	4170	6168	179304798	SO:0001819	synonymous_variant	7273	exon55			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.16098T>C	2.37:g.179596553A>G			179304798	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179597238	179597238	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179597238G>A	ENST00000591111.1	-	54	15823	c.15599C>T	c.(15598-15600)tCg>tTg	p.S5200L	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S5517L|TTN_ENST00000342992.6_Missense_Mutation_p.S4273L			Q8WZ42	TITIN_HUMAN	titin	12567	Ig-like 32.				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.S4273L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGTGCCCGAATCAGAGGT	0.418																																					p.S4273L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12818T	2						.						55.0	53.0	54.0					2																	179597238		1875	4111	5986	179305483	SO:0001583	missense	7273	exon53			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.15599C>T	2.37:g.179597238G>A	ENSP00000465570:p.Ser5200Leu		179305483	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.72	1.722543	0.30503	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83783	0.5329	M	0.87328	2.875	0.80722	D	1	D	0.71674	0.998	P	0.60415	0.874	D	0.85095	0.0954	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5200	Q8WZ42	TITIN_HUMAN	L	4273	ENSP00000343764:S4273L	ENSP00000343764:S4273L	S	-	2	0	TTN	179305483	1.000000	0.71417	0.999000	0.59377	0.659000	0.38960	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179597332	179597332	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179597332C>T	ENST00000591111.1	-	54	15729	c.15505G>A	c.(15505-15507)Ggc>Agc	p.G5169S	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G5486S|TTN_ENST00000342992.6_Missense_Mutation_p.G4242S			Q8WZ42	TITIN_HUMAN	titin	12536	Ig-like 32.				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.G4242S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGTTGCCCTTAAACCAT	0.458																																					p.G4242S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12724A	2						.						67.0	65.0	65.0					2																	179597332		1870	4112	5982	179305577	SO:0001583	missense	7273	exon53			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.15505G>A	2.37:g.179597332C>T	ENSP00000465570:p.Gly5169Ser		179305577	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.37	3.371504	0.61624	.	.	ENSG00000155657	ENST00000342992	T	0.44881	0.91	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53546	0.1803	M	0.75884	2.315	0.80722	D	1	B	0.31752	0.338	B	0.37015	0.239	T	0.54669	-0.8259	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	5169	Q8WZ42	TITIN_HUMAN	S	4242	ENSP00000343764:G4242S	ENSP00000343764:G4242S	G	-	1	0	TTN	179305577	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179602934	179602934	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179602934C>T	ENST00000591111.1	-	47	13519	c.13295G>A	c.(13294-13296)cGa>cAa	p.R4432Q	TTN_ENST00000342175.6_Missense_Mutation_p.R4578Q|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4386Q|TTN_ENST00000359218.5_Missense_Mutation_p.R4511Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R4749Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3505Q			Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 24.				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.R4386Q(1)|p.R3505Q(1)|p.R4511Q(1)|p.R4578Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAAGATCGAATAGAACA	0.463																																					p.R4386Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G13157A	2						.						65.0	62.0	63.0					2																	179602934		1865	4110	5975	179311179	SO:0001583	missense	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13295G>A	2.37:g.179602934C>T	ENSP00000465570:p.Arg4432Gln		179311179	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	14.50	2.553503	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54598	0.1868	.	.	.	0.20196	N	0.999925	B;B;B;B	0.19817	0.01;0.01;0.039;0.01	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.47535	-0.9110	8	0.87932	D	0	.	8.6128	0.33813	0.0:0.7862:0.0:0.2138	.	4386;4511;4578;4432	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	3505;4386;4578;4511;4386	ENSP00000343764:R3505Q;ENSP00000434586:R4386Q;ENSP00000340554:R4578Q;ENSP00000352154:R4511Q	ENSP00000340554:R4578Q	R	-	2	0	TTN	179311179	0.914000	0.31030	1.000000	0.80357	0.911000	0.54048	1.639000	0.37176	2.689000	0.91719	0.462000	0.41574	CGA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179604479	179604479	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179604479C>A	ENST00000591111.1	-	46	12754	c.12530G>T	c.(12529-12531)aGa>aTa	p.R4177I	TTN_ENST00000342175.6_Missense_Mutation_p.R4323I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4131I|TTN_ENST00000359218.5_Missense_Mutation_p.R4256I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R4494I|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					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.R4256I(1)|p.R4323I(1)|p.R4131I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTGAATTCTAGGACCCTC	0.388																																					p.R4131I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G12392T	2						.						189.0	187.0	188.0					2																	179604479		1856	4102	5958	179312724	SO:0001583	missense	7273	exon45			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.12530G>T	2.37:g.179604479C>A	ENSP00000465570:p.Arg4177Ile		179312724	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	3.278	-0.147579	0.06627	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.65549	-0.08;-0.16;-0.16	5.44	3.63	0.41609	.	.	.	.	.	T	0.53562	0.1804	L	0.43152	1.355	0.09310	N	1	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.17098	0.017;0.017;0.017	T	0.51655	-0.8678	9	0.87932	D	0	.	9.183	0.37154	0.0:0.7049:0.0:0.2951	.	4131;4256;4323	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4131;4323;4256;4131	ENSP00000434586:R4131I;ENSP00000340554:R4323I;ENSP00000352154:R4256I	ENSP00000340554:R4323I	R	-	2	0	TTN	179312724	0.005000	0.15991	0.031000	0.17742	0.265000	0.26407	1.841000	0.39240	1.314000	0.45095	-0.150000	0.13652	AGA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179605373	179605373	+	Nonsense_Mutation	SNP	G	G	T	rs370912401		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179605373G>T	ENST00000591111.1	-	46	11860	c.11636C>A	c.(11635-11637)tCa>tAa	p.S3879*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S4025*|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3833*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3958*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S4196*|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					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.S4025*(1)|p.S3833*(1)|p.S3958*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGTTAATGAATTAATTTG	0.393																																					p.S3833X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C11498A	2						.	G	stop/SER,,stop/SER,stop/SER	0,3694		0,0,1847	83.0	80.0	81.0		11498,,11873,12074	3.4	0.1	2		81	1,8183		0,1,4091	no	stop-gained,intron,stop-gained,stop-gained	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5938	TT,TG,GG		0.0122,0.0,0.0084	,,,	3833/26927,,3958/27052,4025/27119	179605373	1,11877	1847	4092	5939	179313618	SO:0001587	stop_gained	7273	exon45			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.11636C>A	2.37:g.179605373G>T	ENSP00000465570:p.Ser3879*		179313618	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	51	18.341181	0.99903	0.0	1.22E-4	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.51	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.7031	0.02876	0.2283:0.1235:0.4477:0.2004	.	.	.	.	X	3833;4025;3958;3833	.	ENSP00000340554:S4025X	S	-	2	0	TTN	179313618	0.000000	0.05858	0.108000	0.21378	0.032000	0.12392	0.316000	0.19469	1.344000	0.45657	0.655000	0.94253	TCA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179606070	179606070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179606070C>A	ENST00000591111.1	-	46	11163	c.10939G>T	c.(10939-10941)Gag>Tag	p.E3647*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E3793*|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E3601*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E3726*|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E3964*|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13953	Ig-like 22.				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.E3793*(1)|p.E3601*(1)|p.E3726*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGCAGGCTCTCCAACCACT	0.453																																					p.E3601X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G10801T	2						.						128.0	126.0	126.0					2																	179606070		1932	4139	6071	179314315	SO:0001587	stop_gained	7273	exon45			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.10939G>T	2.37:g.179606070C>A	ENSP00000465570:p.Glu3647*		179314315	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	53	20.953359	0.99935	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.3318	0.43827	0.0:0.7959:0.0:0.204	.	.	.	.	X	3601;3793;3726;3601	.	ENSP00000340554:E3793X	E	-	1	0	TTN	179314315	0.991000	0.36638	0.993000	0.49108	0.941000	0.58515	2.770000	0.47662	1.627000	0.50400	0.655000	0.94253	GAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179612317	179612317	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179612317G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S4937L|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S4937L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTCCATTGAAGTGATTGA	0.433																																					p.S4937L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14810T	2						.						132.0	124.0	127.0					2																	179612317		2203	4300	6503	179320562	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5533C>T	2.37:g.179612317G>A			179320562	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	17.24	3.338254	0.60963	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.64085	-0.08	5.79	4.91	0.64330	.	.	.	.	.	T	0.53367	0.1792	L	0.50333	1.59	0.80722	D	1	B	0.20671	0.047	B	0.18263	0.021	T	0.49409	-0.8943	9	0.30854	T	0.27	.	9.6569	0.39932	0.0706:0.0:0.7889:0.1405	.	4937	Q8WZ42-6	.	L	4937;251	ENSP00000354117:S4937L	ENSP00000304714:S251L	S	-	2	0	TTN	179320562	0.999000	0.42202	0.856000	0.33681	0.858000	0.48976	3.534000	0.53568	1.443000	0.47586	0.655000	0.94253	TCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179612744	179612744	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179612744G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P4795S|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P4795S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGCTTTGGAAATGCTGCC	0.463																																					p.P4795S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14383T	2						.						63.0	53.0	56.0					2																	179612744		2203	4300	6503	179320989	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5106C>T	2.37:g.179612744G>A			179320989	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	9.614	1.131983	0.21041	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.55234	0.53	5.59	0.113	0.14631	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.11329	0.006	T	0.25398	-1.0133	9	0.66056	D	0.02	.	7.0918	0.25287	0.0697:0.355:0.4651:0.1102	.	4795	Q8WZ42-6	.	S	4795;109	ENSP00000354117:P4795S	ENSP00000304714:P109S	P	-	1	0	TTN	179320989	0.059000	0.20769	0.001000	0.08648	0.025000	0.11179	0.321000	0.19558	0.278000	0.22164	0.585000	0.79938	CCA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179613321	179613321	+	Intron	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179613321A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.Y4602Y|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y4602Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATTTTAAAATAAGCTTCTT	0.353																																					p.Y4602Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T13806C	2						.						124.0	134.0	131.0					2																	179613321		2203	4299	6502	179321566	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4529T>C	2.37:g.179613321A>G			179321566	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	Intron	SNP	ENST00000591111.1	37																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179613961	179613961	+	Intron	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179613961A>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V4389A|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V4389A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTAATAGTGACATCACTGAA	0.343																																					p.V4389A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13166C	2						.						56.0	61.0	60.0					2																	179613961		2200	4295	6495	179322206	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3889T>C	2.37:g.179613961A>G			179322206	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	13.61	2.288267	0.40494	.	.	ENSG00000155657	ENST00000360870	T	0.61158	0.13	5.23	-2.38	0.06622	.	.	.	.	.	T	0.33000	0.0848	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16719	-1.0393	9	0.18276	T	0.48	.	2.8024	0.05418	0.3504:0.1271:0.3984:0.1241	.	4389	Q8WZ42-6	.	A	4389	ENSP00000354117:V4389A	ENSP00000354117:V4389A	V	-	2	0	TTN	179322206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.062000	0.11674	-0.464000	0.06963	0.460000	0.39030	GTC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179614844	179614844	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179614844C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D4095Y|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D4095Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTGTGTCTCCAGAGGGA	0.433																																					p.D4095Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12283T	2						.						77.0	73.0	74.0					2																	179614844		2203	4299	6502	179323089	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3006G>T	2.37:g.179614844C>A			179323089	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.88	2.070824	0.36566	.	.	ENSG00000155657	ENST00000360870	T	0.58506	0.33	5.54	4.66	0.58398	.	.	.	.	.	T	0.54255	0.1847	N	0.24115	0.695	0.80722	D	1	P	0.51537	0.946	P	0.55161	0.77	T	0.57394	-0.7819	9	0.59425	D	0.04	.	9.4577	0.38764	0.1424:0.7857:0.0:0.0719	.	4095	Q8WZ42-6	.	Y	4095	ENSP00000354117:D4095Y	ENSP00000354117:D4095Y	D	-	1	0	TTN	179323089	1.000000	0.71417	0.237000	0.24090	0.109000	0.19521	2.013000	0.40942	1.476000	0.48215	0.655000	0.94253	GAC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615267	179615267	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179615267C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E3954*|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3954*(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTTCTTGAGATTCA	0.368																																					p.E3954X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G11860T	2						.						37.0	38.0	37.0					2																	179615267		2203	4296	6499	179323512	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2583G>T	2.37:g.179615267C>A			179323512	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	53	21.328997	0.99939	.	.	ENSG00000155657	ENST00000360870	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.861	0.96785	0.0:1.0:0.0:0.0	.	.	.	.	X	3954	.	ENSP00000354117:E3954X	E	-	1	0	TTN	179323512	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	2.769000	0.47654	2.767000	0.95098	0.655000	0.94253	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615666	179615666	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179615666C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3821Y|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D3821Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAAATGGTCTTTTGGTAGA	0.368																																					p.D3821Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11461T	2						.						104.0	114.0	111.0					2																	179615666		2201	4296	6497	179323911	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2184G>T	2.37:g.179615666C>A			179323911	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.447606	0.84101	.	.	ENSG00000155657	ENST00000360870	T	0.61510	0.1	5.25	5.25	0.73442	.	.	.	.	.	T	0.53270	0.1786	N	0.14661	0.345	0.58432	D	0.999997	P	0.51537	0.946	P	0.55999	0.789	T	0.55471	-0.8136	9	0.48119	T	0.1	.	12.1667	0.54133	0.0:0.9165:0.0:0.0835	.	3821	Q8WZ42-6	.	Y	3821	ENSP00000354117:D3821Y	ENSP00000354117:D3821Y	D	-	1	0	TTN	179323911	0.119000	0.22226	0.012000	0.15200	0.849000	0.48306	2.393000	0.44442	2.610000	0.88304	0.655000	0.94253	GAC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615969	179615969	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179615969G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L3720I|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L3720I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATCTAAAAGAGATAATTTC	0.353																																					p.L3720I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11158A	2						.						66.0	65.0	66.0					2																	179615969		2201	4297	6498	179324214	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1881C>A	2.37:g.179615969G>T			179324214	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	Intron	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	2.398	-0.338168	0.05278	.	.	ENSG00000155657	ENST00000360870	T	0.57436	0.4	5.55	0.466	0.16716	.	.	.	.	.	T	0.32526	0.0832	N	0.24115	0.695	0.09310	N	1	B	0.18610	0.029	B	0.14578	0.011	T	0.19353	-1.0308	9	0.22109	T	0.4	.	6.227	0.20714	0.3883:0.0:0.4928:0.1189	.	3720	Q8WZ42-6	.	I	3720	ENSP00000354117:L3720I	ENSP00000354117:L3720I	L	-	1	0	TTN	179324214	0.420000	0.25457	0.043000	0.18650	0.461000	0.32589	0.229000	0.17833	0.087000	0.17167	-0.208000	0.12717	CTT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179621265	179621265	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179621265C>T	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.E3475E|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000589042.1_Silent_p.E3646E|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3475E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTAGATAGCTCAGTGCTTT	0.468																																					p.E3475E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G10425A	2						.						102.0	101.0	101.0					2																	179621265		1953	4146	6099	179329510	SO:0001627	intron_variant	7273	exon44			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2445G>A	2.37:g.179621265C>T			179329510	NM_133437	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Intron	SNP	ENST00000591111.1	37																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179632645	179632645	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179632645C>A	ENST00000591111.1	-	40	9536	c.9312G>T	c.(9310-9312)aaG>aaT	p.K3104N	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K3058N|TTN_ENST00000460472.2_Missense_Mutation_p.K3058N|TTN_ENST00000359218.5_Missense_Mutation_p.K3058N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K3104N|TTN_ENST00000589042.1_Missense_Mutation_p.K3104N|TTN_ENST00000342992.6_Missense_Mutation_p.K3104N			Q8WZ42	TITIN_HUMAN	titin	13436	Ig-like 18.				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.K3104N(2)|p.K3058N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTGAATCTTTATTCTAT	0.458																																					p.K3104N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G9312T	2						.						80.0	81.0	81.0					2																	179632645		2203	4300	6503	179340890	SO:0001583	missense	7273	exon40			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.9312G>T	2.37:g.179632645C>A	ENSP00000465570:p.Lys3104Asn		179340890	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	10.45	1.355043	0.24512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.8	3.02	0.34903	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62466	0.2430	L	0.45352	1.415	0.22500	N	0.999047	B;B;B;B;P	0.42203	0.175;0.175;0.175;0.175;0.773	B;B;B;B;P	0.45829	0.081;0.081;0.081;0.129;0.494	T	0.53683	-0.8404	9	0.87932	D	0	.	7.798	0.29158	0.0:0.5582:0.0:0.4418	.	3058;3058;3058;3104;3104	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	3104;3058;3058;3058;3058;3104	ENSP00000343764:K3104N;ENSP00000434586:K3058N;ENSP00000340554:K3058N;ENSP00000352154:K3058N;ENSP00000354117:K3104N	ENSP00000340554:K3058N	K	-	3	2	TTN	179340890	1.000000	0.71417	0.903000	0.35520	0.730000	0.41778	0.983000	0.29552	0.353000	0.24079	0.561000	0.74099	AAG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179636057	179636057	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179636057C>T	ENST00000591111.1	-	34	8221	c.7997G>A	c.(7996-7998)aGa>aAa	p.R2666K	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R2620K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2620K|TTN_ENST00000359218.5_Missense_Mutation_p.R2620K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2666K|TTN_ENST00000589042.1_Missense_Mutation_p.R2666K|TTN_ENST00000342992.6_Missense_Mutation_p.R2666K			Q8WZ42	TITIN_HUMAN	titin	12991	Ig-like 15.				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.R2620K(2)|p.R2666K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTCACTTCTGATGTTGTT	0.453																																					p.R2666K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G7997A	2						.						219.0	173.0	189.0					2																	179636057		2203	4300	6503	179344302	SO:0001583	missense	7273	exon34			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.7997G>A	2.37:g.179636057C>T	ENSP00000465570:p.Arg2666Lys		179344302	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	11.65	1.701109	0.30142	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	6.17	1.95	0.26073	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42040	0.1185	N	0.05534	-0.03	0.18873	N	0.999981	B;B;B;B;B	0.12013	0.0;0.0;0.0;0.0;0.005	B;B;B;B;B	0.11329	0.001;0.001;0.001;0.001;0.006	T	0.39881	-0.9592	9	0.87932	D	0	.	11.0772	0.48038	0.0:0.6686:0.0:0.3314	.	2620;2620;2620;2666;2666	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2666;2620;2620;2620;2620;2666	ENSP00000343764:R2666K;ENSP00000434586:R2620K;ENSP00000340554:R2620K;ENSP00000352154:R2620K;ENSP00000354117:R2666K	ENSP00000340554:R2620K	R	-	2	0	TTN	179344302	0.910000	0.30920	1.000000	0.80357	0.576000	0.36127	0.331000	0.19733	0.501000	0.28013	-0.140000	0.14226	AGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179641225	179641225	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179641225G>T	ENST00000591111.1	-	28	5590	c.5366C>A	c.(5365-5367)tCt>tAt	p.S1789Y	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S1743Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S1743Y|TTN_ENST00000359218.5_Missense_Mutation_p.S1743Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1789Y|TTN_ENST00000589042.1_Missense_Mutation_p.S1789Y|TTN_ENST00000342992.6_Missense_Mutation_p.S1789Y			Q8WZ42	TITIN_HUMAN	titin	12621	Ig-like 8.				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.S1789Y(2)|p.S1743Y(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGGTAGCAGATGTGTGATC	0.408																																					p.S1789Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C5366A	2						.						98.0	92.0	94.0					2																	179641225		2203	4300	6503	179349470	SO:0001583	missense	7273	exon28			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.5366C>A	2.37:g.179641225G>T	ENSP00000465570:p.Ser1789Tyr		179349470	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.91	1.484693	0.26598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86431	0.5931	M	0.92691	3.335	0.42916	D	0.994271	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.90171	0.4235	9	0.87932	D	0	.	18.4712	0.90776	0.0:0.0:1.0:0.0	.	1743;1743;1743;1789;1789	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1789;1743;1743;1743;1743;1789	ENSP00000343764:S1789Y;ENSP00000434586:S1743Y;ENSP00000340554:S1743Y;ENSP00000352154:S1743Y;ENSP00000354117:S1789Y	ENSP00000340554:S1743Y	S	-	2	0	TTN	179349470	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	9.789000	0.99068	2.376000	0.81061	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179641740	179641740	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179641740G>A	ENST00000591111.1	-	28	5075	c.4851C>T	c.(4849-4851)atC>atT	p.I1617I	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.I1571I|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Silent_p.I1571I|TTN_ENST00000359218.5_Silent_p.I1571I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.I1617I|TTN_ENST00000589042.1_Silent_p.I1617I|TTN_ENST00000342992.6_Silent_p.I1617I			Q8WZ42	TITIN_HUMAN	titin	12470	Ig-like 7.				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.I1571I(3)|p.I1617I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTGGAATCGATTTTAAGGG	0.408																																					p.I1617I												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C4851T	2						.						61.0	65.0	64.0					2																	179641740		2197	4296	6493	179349985	SO:0001819	synonymous_variant	7273	exon28			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.4851C>T	2.37:g.179641740G>A			179349985	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179642439	179642439	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179642439A>C	ENST00000591111.1	-	25	4696	c.4472T>G	c.(4471-4473)tTt>tGt	p.F1491C	TTN_ENST00000342175.6_Missense_Mutation_p.F1445C|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F1445C|TTN_ENST00000359218.5_Missense_Mutation_p.F1445C|TTN_ENST00000360870.5_Missense_Mutation_p.F1491C|TTN_ENST00000589042.1_Missense_Mutation_p.F1491C|TTN_ENST00000342992.6_Missense_Mutation_p.F1491C			Q8WZ42	TITIN_HUMAN	titin	12357	Ig-like 6.				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.F1491C(2)|p.F1445C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATGAAACCAGAACGT	0.328																																					p.F1491C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T4472G	2						.						80.0	77.0	78.0					2																	179642439		2203	4300	6503	179350684	SO:0001583	missense	7273	exon25			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.4472T>G	2.37:g.179642439A>C	ENSP00000465570:p.Phe1491Cys		179350684	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		.	.	.	.	.	.	.	.	.	.	A	15.19	2.761285	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.8	5.8	0.92144	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89136	0.6629	M	0.92026	3.265	0.39912	D	0.974046	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.92074	0.5667	9	0.87932	D	0	.	16.1547	0.81649	1.0:0.0:0.0:0.0	.	1445;1445;1445;1491;1491	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1491;1445;1445;1445;1445;1491	ENSP00000343764:F1491C;ENSP00000434586:F1445C;ENSP00000340554:F1445C;ENSP00000352154:F1445C;ENSP00000354117:F1491C	ENSP00000340554:F1445C	F	-	2	0	TTN	179350684	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.307000	0.96226	2.221000	0.72209	0.528000	0.53228	TTT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179644012	179644012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179644012G>T	ENST00000591111.1	-	23	4131	c.3907C>A	c.(3907-3909)Ctt>Att	p.L1303I	TTN_ENST00000342175.6_Missense_Mutation_p.L1257I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L1257I|TTN_ENST00000359218.5_Missense_Mutation_p.L1257I|TTN_ENST00000360870.5_Missense_Mutation_p.L1303I|TTN_ENST00000589042.1_Missense_Mutation_p.L1303I|TTN_ENST00000342992.6_Missense_Mutation_p.L1303I			Q8WZ42	TITIN_HUMAN	titin	33500	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L1257I(3)|p.L1303I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCCCTCAAGAATTCTATAA	0.353																																					p.L1303I												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C3907A	2						.						50.0	53.0	52.0					2																	179644012		2203	4297	6500	179352257	SO:0001583	missense	7273	exon23			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3907C>A	2.37:g.179644012G>T	ENSP00000465570:p.Leu1303Ile		179352257	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.48	1.651491	0.29336	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.72	2.8	0.32819	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43986	0.1272	N	0.17278	0.47	0.22226	N	0.999277	B;B;B;B;P	0.42296	0.033;0.033;0.033;0.033;0.775	B;B;B;B;B	0.32465	0.081;0.081;0.081;0.081;0.146	T	0.36065	-0.9763	9	0.87932	D	0	.	7.6308	0.28238	0.2148:0.1467:0.6385:0.0	.	1257;1257;1257;1303;1303	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	1303;1257;1257;1257;1257;1303	ENSP00000343764:L1303I;ENSP00000434586:L1257I;ENSP00000340554:L1257I;ENSP00000352154:L1257I;ENSP00000354117:L1303I	ENSP00000340554:L1257I	L	-	1	0	TTN	179352257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.934000	0.40163	1.423000	0.47198	0.655000	0.94253	CTT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179644857	179644857	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179644857G>T	ENST00000591111.1	-	22	3823	c.3599C>A	c.(3598-3600)cCt>cAt	p.P1200H	TTN_ENST00000342175.6_Missense_Mutation_p.P1154H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P1154H|TTN_ENST00000359218.5_Missense_Mutation_p.P1154H|TTN_ENST00000360870.5_Missense_Mutation_p.P1200H|TTN_ENST00000589042.1_Missense_Mutation_p.P1200H|TTN_ENST00000342992.6_Missense_Mutation_p.P1200H			Q8WZ42	TITIN_HUMAN	titin	33413					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.P1154H(2)|p.P1200H(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAACTTTAGGTTCTTGAAC	0.353																																					p.P1200H												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3599A	2						.						138.0	130.0	132.0					2																	179644857		2203	4300	6503	179353102	SO:0001583	missense	7273	exon22			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.3599C>A	2.37:g.179644857G>T	ENSP00000465570:p.Pro1200His		179353102	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	15.70	2.910977	0.52439	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65364	-0.15;0.09;0.08;0.08;0.16	5.78	5.78	0.91487	Ribonuclease H-like (1);	.	.	.	.	T	0.73156	0.3551	L	0.34521	1.04	0.40519	D	0.98081	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.75545	-0.3280	9	0.87932	D	0	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	1154;1154;1154;1200;1200	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1200;1154;1154;1154;1154;1200	ENSP00000343764:P1200H;ENSP00000434586:P1154H;ENSP00000340554:P1154H;ENSP00000352154:P1154H;ENSP00000354117:P1200H	ENSP00000340554:P1154H	P	-	2	0	TTN	179353102	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.468000	0.90393	2.730000	0.93505	0.650000	0.86243	CCT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179650835	179650835	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179650835T>G	ENST00000591111.1	-	14	2334	c.2110A>C	c.(2110-2112)Aca>Cca	p.T704P	TTN_ENST00000342175.6_Missense_Mutation_p.T658P|TTN_ENST00000460472.2_Missense_Mutation_p.T658P|TTN_ENST00000359218.5_Missense_Mutation_p.T658P|TTN_ENST00000360870.5_Missense_Mutation_p.T704P|TTN_ENST00000589042.1_Missense_Mutation_p.T704P|TTN_ENST00000342992.6_Missense_Mutation_p.T704P			Q8WZ42	TITIN_HUMAN	titin	0					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.T658P(3)|p.T704P(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAACAACTGTTGCTACAGCT	0.493																																					p.T704P												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.A2110C	2						.						53.0	55.0	54.0					2																	179650835		2203	4300	6503	179359080	SO:0001583	missense	7273	exon14			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.2110A>C	2.37:g.179650835T>G	ENSP00000465570:p.Thr704Pro		179359080	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		.	.	.	.	.	.	.	.	.	.	T	16.25	3.070634	0.55539	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.70516	-0.49;-0.27;-0.27;-0.28;0.25;0.22	5.99	5.99	0.97316	Ribonuclease H-like (1);	.	.	.	.	T	0.78929	0.4361	L	0.36672	1.1	0.39488	D	0.968005	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.996;0.996;0.999	T	0.81835	-0.0750	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	658;658;658;704;704	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	704;658;658;658;658;704;208	ENSP00000343764:T704P;ENSP00000434586:T658P;ENSP00000340554:T658P;ENSP00000352154:T658P;ENSP00000354117:T704P;ENSP00000405517:T208P	ENSP00000340554:T658P	T	-	1	0	TTN	179359080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.603000	0.82811	2.291000	0.77112	0.533000	0.62120	ACA		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179665387	179665387	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179665387G>A	ENST00000591111.1	-	4	542	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TTN_ENST00000342175.6_Silent_p.F106F|TTN_ENST00000460472.2_Silent_p.F106F|TTN_ENST00000359218.5_Silent_p.F106F|TTN_ENST00000360870.5_Silent_p.F106F|TTN_ENST00000589042.1_Silent_p.F106F|TTN_ENST00000342992.6_Silent_p.F106F			Q8WZ42	TITIN_HUMAN	titin	32724	Ig-like 2.				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.F106F(4)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTTGAACGAAGTTGGGTG	0.512																																					p.F106F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C318T	2						.						122.0	100.0	107.0					2																	179665387		2203	4300	6503	179373632	SO:0001819	synonymous_variant	7273	exon4			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.318C>T	2.37:g.179665387G>A			179373632	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.512	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179701907	179701907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179701907C>A	ENST00000420890.2	-	23	4156	c.4039G>T	c.(4039-4041)Gag>Tag	p.E1347*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E772*|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1347								p.E1347K(1)|p.E772*(1)|p.E772K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATTTTCTCCCGTGTTTCT	0.488																																					p.E1347X												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	NS(2)|large_intestine(1)	c.G4039T	2						.						69.0	59.0	62.0					2																	179701907		2203	4300	6503	179410152	SO:0001587	stop_gained	285025	exon23			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4039G>T	2.37:g.179701907C>A	ENSP00000395995:p.Glu1347*		179410152	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	39	7.490513	0.98316	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	6.07	5.2	0.72013	.	0.407546	0.22727	N	0.056378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.0835	11.0294	0.47763	0.0:0.858:0.0:0.142	.	.	.	.	X	1347;791;772	.	ENSP00000295723:E772X	E	-	1	0	CCDC141	179410152	0.808000	0.29022	0.038000	0.18304	0.031000	0.12232	2.164000	0.42387	1.589000	0.49982	-0.126000	0.14955	GAG		0.488	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179710434	179710434	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179710434T>G	ENST00000420890.2	-	22	3510	c.3393A>C	c.(3391-3393)gaA>gaC	p.E1131D	CCDC141_ENST00000295723.5_Missense_Mutation_p.E556D|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1131								p.E556D(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATGGAAGTCTTCCAAATTCG	0.363																																					p.E1131D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3393C	2						.						120.0	111.0	114.0					2																	179710434		2203	4300	6503	179418679	SO:0001583	missense	285025	exon22			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3393A>C	2.37:g.179710434T>G	ENSP00000395995:p.Glu1131Asp		179418679	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	T	8.632	0.893946	0.17613	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.51574	0.7;1.31;1.31	4.94	-2.11	0.07187	.	0.225655	0.31279	N	0.007923	T	0.31199	0.0789	L	0.29908	0.895	0.23809	N	0.996785	B;B	0.28552	0.193;0.215	B;B	0.37780	0.258;0.216	T	0.19321	-1.0309	10	0.32370	T	0.25	-8.7725	4.2701	0.10782	0.1542:0.3508:0.0:0.495	.	556;556	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	D	1131;575;556	ENSP00000395995:E1131D;ENSP00000344627:E575D;ENSP00000295723:E556D	ENSP00000295723:E556D	E	-	3	2	CCDC141	179418679	0.372000	0.25064	0.944000	0.38274	0.082000	0.17680	0.015000	0.13355	-0.109000	0.12044	-0.250000	0.11733	GAA		0.363	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179718242	179718242	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179718242T>G	ENST00000420890.2	-	20	3287	c.3170A>C	c.(3169-3171)aAg>aCg	p.K1057T	CCDC141_ENST00000295723.5_Missense_Mutation_p.K482T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1057								p.K482T(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCAATAAACTTATTAAACTG	0.433																																					p.K1057T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3170C	2						.						143.0	142.0	142.0					2																	179718242		2203	4300	6503	179426487	SO:0001583	missense	285025	exon20			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3170A>C	2.37:g.179718242T>G	ENSP00000395995:p.Lys1057Thr		179426487	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	T	18.17	3.563627	0.65651	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.36157	1.27;1.27;1.27	5.39	5.39	0.77823	.	0.000000	0.51477	D	0.000089	T	0.49558	0.1564	L	0.34521	1.04	0.37761	D	0.926334	D	0.89917	1.0	D	0.91635	0.999	T	0.54483	-0.8287	10	0.48119	T	0.1	-12.7564	15.4317	0.75105	0.0:0.0:0.0:1.0	.	482	Q6ZP82	CC141_HUMAN	T	1057;501;482	ENSP00000395995:K1057T;ENSP00000344627:K501T;ENSP00000295723:K482T	ENSP00000295723:K482T	K	-	2	0	CCDC141	179426487	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	5.012000	0.64017	2.030000	0.59900	0.533000	0.62120	AAG		0.433	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179721108	179721108	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179721108T>G	ENST00000420890.2	-	18	2858	c.2741A>C	c.(2740-2742)aAa>aCa	p.K914T	CCDC141_ENST00000295723.5_Missense_Mutation_p.K339T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	914								p.K339T(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGATATCTTTGAATGAGTC	0.289																																					p.K914T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2741C	2						.						49.0	50.0	50.0					2																	179721108		2198	4297	6495	179429353	SO:0001583	missense	285025	exon18			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2741A>C	2.37:g.179721108T>G	ENSP00000395995:p.Lys914Thr		179429353	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	T	20.3	3.959841	0.74016	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.51574	0.7;1.35;1.35;1.28	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000017	T	0.58380	0.2118	L	0.34521	1.04	0.36135	D	0.846415	D	0.89917	1.0	D	0.91635	0.999	T	0.64554	-0.6380	10	0.39692	T	0.17	-22.4608	15.7394	0.77876	0.0:0.0:0.0:1.0	.	339	Q6ZP82	CC141_HUMAN	T	914;358;339;914	ENSP00000395995:K914T;ENSP00000344627:K358T;ENSP00000295723:K339T;ENSP00000390190:K914T	ENSP00000295723:K339T	K	-	2	0	CCDC141	179429353	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.257000	0.51500	2.122000	0.65172	0.455000	0.32223	AAA		0.289	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179732885	179732885	+	Silent	SNP	C	C	T	rs142582103		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179732885C>T	ENST00000420890.2	-	16	2559	c.2442G>A	c.(2440-2442)ccG>ccA	p.P814P	CCDC141_ENST00000295723.5_Silent_p.P239P	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	814								p.P239P(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCAGTTCCTTCGGCTGCTCTA	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16896	0.0		0.0	False		,,,				2504	0.0				p.P814P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2442A	2						.	C		1,4405	2.1+/-5.4	0,1,2202	114.0	102.0	106.0		2442	-5.5	0.0	2	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC141	NM_173648.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		814/1531	179732885	2,13004	2203	4300	6503	179441130	SO:0001819	synonymous_variant	285025	exon16			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2442G>A	2.37:g.179732885C>T			179441130	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37																																																																																					0.468	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CCDC141	285025	broad.mit.edu	37	2	179733898	179733898	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179733898C>A	ENST00000420890.2	-	15	2457	c.2340G>T	c.(2338-2340)caG>caT	p.Q780H	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q205H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	780								p.Q205H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCTCGTAATCCTGGATTCTCT	0.413																																					p.Q780H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2340T	2						.						184.0	163.0	170.0					2																	179733898		2203	4300	6503	179442143	SO:0001583	missense	285025	exon15			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2340G>T	2.37:g.179733898C>A	ENSP00000395995:p.Gln780His		179442143	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	C	15.20	2.762809	0.49574	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.45276	0.9;1.49;1.49;1.52	5.49	-0.217	0.13149	.	0.505205	0.18328	N	0.144586	T	0.23249	0.0562	N	0.24115	0.695	0.24232	N	0.995394	B	0.14805	0.011	B	0.14578	0.011	T	0.11203	-1.0597	10	0.44086	T	0.13	-0.795	4.8734	0.13644	0.0:0.3217:0.3032:0.3751	.	205	Q6ZP82	CC141_HUMAN	H	780;224;205;780	ENSP00000395995:Q780H;ENSP00000344627:Q224H;ENSP00000295723:Q205H;ENSP00000390190:Q780H	ENSP00000295723:Q205H	Q	-	3	2	CCDC141	179442143	0.701000	0.27806	0.990000	0.47175	0.985000	0.73830	0.683000	0.25349	-0.191000	0.10448	-0.302000	0.09304	CAG		0.413	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
SESTD1	91404	broad.mit.edu	37	2	179974751	179974751	+	Missense_Mutation	SNP	C	C	T	rs139920232		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:179974751C>T	ENST00000428443.3	-	18	2282	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	656							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E656K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAATATTGTTCGGTTCTAAAA	0.343																																					p.E656K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1966A	2						.	C	LYS/GLU	0,4406		0,0,2203	103.0	95.0	97.0		1966	5.9	1.0	2	dbSNP_134	97	1,8599		0,1,4299	no	missense	SESTD1	NM_178123.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	656/697	179974751	1,13005	2203	4300	6503	179682996	SO:0001583	missense	91404	exon18			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1966G>A	2.37:g.179974751C>T	ENSP00000415332:p.Glu656Lys		179682996	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932696	0.92458	0.0	1.16E-4	ENSG00000187231	ENST00000428443	T	0.06068	3.35	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.75484	0.935;0.986	T	0.18209	-1.0344	9	.	.	.	-22.9509	20.2187	0.98312	0.0:1.0:0.0:0.0	.	656;656	Q86VW0;B3KTX3	SESD1_HUMAN;.	K	656	ENSP00000415332:E656K	.	E	-	1	0	SESTD1	179682996	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.031000	0.76491	2.780000	0.95670	0.655000	0.94253	GAA		0.343	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
SESTD1	91404	broad.mit.edu	37	2	180047865	180047865	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:180047865C>T	ENST00000428443.3	-	3	422	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	36	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E36K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGTCTGTTCGAGGCATAAT	0.358																																					p.E36K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	2						.						120.0	119.0	119.0					2																	180047865		2203	4300	6503	179756110	SO:0001583	missense	91404	exon3			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.106G>A	2.37:g.180047865C>T	ENSP00000415332:p.Glu36Lys		179756110	NM_178123	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	9.301	1.053161	0.19907	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	T;T;T	0.62639	0.01;0.01;0.01	5.35	4.47	0.54385	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.141340	0.64402	D	0.000005	T	0.40719	0.1128	N	0.04297	-0.235	0.58432	D	0.999992	B	0.27416	0.178	B	0.28991	0.097	T	0.25293	-1.0136	9	.	.	.	-15.2268	16.3095	0.82864	0.0:0.8674:0.1326:0.0	.	36	Q86VW0	SESD1_HUMAN	K	36	ENSP00000415332:E36K;ENSP00000416164:E36K;ENSP00000410286:E36K	.	E	-	1	0	SESTD1	179756110	1.000000	0.71417	0.888000	0.34837	0.681000	0.39784	7.246000	0.78247	1.363000	0.46019	0.655000	0.94253	GAA		0.358	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123	
ZNF385B	151126	broad.mit.edu	37	2	180409658	180409658	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:180409658G>A	ENST00000410066.1	-	4	895	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	ZNF385B_ENST00000336917.5_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R22C|ZNF385B_ENST00000409692.1_5'UTR|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	98	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.R98C(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTAGGTGTGCGCACAAGAGCA	0.443																																					p.R22C	Colon(155;204 2491 32774 51842)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C64T	2						.						183.0	159.0	167.0					2																	180409658		2203	4300	6503	180117903	SO:0001583	missense	151126	exon2			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.292C>T	2.37:g.180409658G>A	ENSP00000386845:p.Arg98Cys		180117903	NM_001113397	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858168	0.91433	.	.	ENSG00000144331	ENST00000410066;ENST00000409343;ENST00000439340	T;T;T	0.52983	1.35;1.29;0.64	5.87	5.87	0.94306	.	0.176515	0.52532	D	0.000063	T	0.68044	0.2958	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.67055	-0.5767	10	0.72032	D	0.01	-2.6355	20.5827	0.99408	0.0:0.0:1.0:0.0	.	98;22	Q569K4;Q569K4-2	Z385B_HUMAN;.	C	98;22;16	ENSP00000386845:R98C;ENSP00000386379:R22C;ENSP00000399198:R16C	ENSP00000386379:R22C	R	-	1	0	ZNF385B	180117903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.923000	0.87546	2.941000	0.99782	0.655000	0.94253	CGC		0.443	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
ITGA4	3676	broad.mit.edu	37	2	182360630	182360630	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:182360630C>A	ENST00000397033.2	+	14	1936	c.1506C>A	c.(1504-1506)ttC>ttA	p.F502L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	502					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F502L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CACTTTGTTTCTCATATAAGG	0.418																																					p.F502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1506A	2						.						195.0	174.0	180.0					2																	182360630		1916	4142	6058	182068875	SO:0001583	missense	3676	exon14				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1506C>A	2.37:g.182360630C>A	ENSP00000380227:p.Phe502Leu		182068875	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335782	0.81801	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.46063	0.88;0.88	5.8	4.84	0.62591	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.58428	1.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.56673	-0.7940	10	0.12766	T	0.61	.	3.3237	0.07059	0.0:0.445:0.0:0.555	.	502	P13612	ITA4_HUMAN	L	502	ENSP00000380227:F502L;ENSP00000233573:F502L	ENSP00000233573:F502L	F	+	3	2	ITGA4	182068875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.157000	0.58144	1.327000	0.45338	0.650000	0.86243	TTC		0.418	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
MYT1L	23040	broad.mit.edu	37	2	1843011	1843011	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1843011C>A	ENST00000399161.2	-	21	3737	c.2990G>T	c.(2989-2991)tGg>tTg	p.W997L	MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000428368.2_Missense_Mutation_p.W995L|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	997					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W997L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCGACTTCCAGGAGAACTG	0.647																																					p.W995L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2984T	2						.						37.0	44.0	41.0					2																	1843011		2034	4186	6220	1822018	SO:0001583	missense	23040	exon21			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2990G>T	2.37:g.1843011C>A	ENSP00000382114:p.Trp997Leu		1822018	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	34	5.352917	0.95830	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000399157;ENST00000428368	T;T	0.46063	0.88;0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.63238	-0.6682	10	0.51188	T	0.08	-25.4149	19.5365	0.95255	0.0:1.0:0.0:0.0	.	997;995	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	997;943;51;995	ENSP00000382114:W997L;ENSP00000396103:W995L	ENSP00000295067:W943L	W	-	2	0	MYT1L	1822018	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.755000	0.85180	2.618000	0.88619	0.563000	0.77884	TGG		0.647	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:182396419C>A	ENST00000397033.2	+	25	3130	c.2700C>A	c.(2698-2700)ttC>ttA	p.F900L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	900					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.F900L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GTTTAAATTTCTTGTGTAATT	0.308																																					p.F900L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2700A	2						.						72.0	71.0	72.0					2																	182396419		1806	4068	5874	182104664	SO:0001583	missense	3676	exon25				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2700C>A	2.37:g.182396419C>A	ENSP00000380227:p.Phe900Leu		182104664	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	5.635	0.301923	0.10678	.	.	ENSG00000115232	ENST00000397033	T	0.41758	0.99	5.49	0.919	0.19392	.	0.612109	0.18211	N	0.148185	T	0.24353	0.0590	L	0.31207	0.915	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12218	-1.0556	10	0.42905	T	0.14	.	2.8641	0.05595	0.1262:0.4933:0.1238:0.2568	.	900	P13612	ITA4_HUMAN	L	900	ENSP00000380227:F900L	ENSP00000380227:F900L	F	+	3	2	ITGA4	182104664	0.004000	0.15560	0.004000	0.12327	0.617000	0.37484	-0.023000	0.12456	0.240000	0.21263	0.557000	0.71058	TTC		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
NEUROD1	4760	broad.mit.edu	37	2	182543404	182543404	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:182543404C>T	ENST00000295108.3	-	2	641	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	62	Glu-rich (acidic).				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E62K(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcatcttcgtcctcctcc	0.552																																					p.E62K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G184A	2						.						137.0	107.0	117.0					2																	182543404		2203	4300	6503	182251649	SO:0001583	missense	4760	exon2			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.184G>A	2.37:g.182543404C>T	ENSP00000295108:p.Glu62Lys		182251649	NM_002500	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231201	0.79688	.	.	ENSG00000162992	ENST00000295108	D	0.95622	-3.76	5.9	5.9	0.94986	.	0.425765	0.24039	N	0.042114	D	0.91616	0.7351	L	0.52573	1.65	0.58432	D	0.999999	P	0.43094	0.799	B	0.17722	0.019	D	0.92066	0.5660	10	0.49607	T	0.09	-7.3566	17.7728	0.88497	0.0:1.0:0.0:0.0	.	62	Q13562	NDF1_HUMAN	K	62	ENSP00000295108:E62K	ENSP00000295108:E62K	E	-	1	0	NEUROD1	182251649	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.043000	0.57354	2.788000	0.95919	0.650000	0.86243	GAA		0.552	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500	
SSFA2	6744	broad.mit.edu	37	2	182774685	182774685	+	Silent	SNP	G	G	A	rs143398479		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:182774685G>A	ENST00000431877.2	+	9	1652	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SSFA2_ENST00000428267.2_Silent_p.T338T|SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000320370.7_Silent_p.T491T|SSFA2_ENST00000409001.1_Silent_p.T491T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	491						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T491T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGGTCTTACGAAGTCGAAAA	0.378																																					p.T491T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1473A	2						.	G	,	2,4404	4.2+/-10.8	0,2,2201	66.0	56.0	59.0		1473,1473	1.3	0.1	2	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SSFA2	NM_001130445.1,NM_006751.5	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	491/1260,491/1257	182774685	2,13004	2203	4300	6503	182482930	SO:0001819	synonymous_variant	6744	exon9			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1473G>A	2.37:g.182774685G>A			182482930	NM_006751	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Silent	SNP	ENST00000431877.2	37	CCDS46467.1																																																																																				0.378	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751	
PPP1R1C	151242	broad.mit.edu	37	2	182852618	182852618	+	Missense_Mutation	SNP	A	A	G	rs181207388		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:182852618A>G	ENST00000409137.3	+	2	377	c.134A>G	c.(133-135)aAc>aGc	p.N45S	PPP1R1C_ENST00000409702.1_Missense_Mutation_p.N45S|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.N52S|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.N45S|PPP1R1C_ENST00000475249.1_Intron	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	45					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.N45S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AATGAGCATAACCCCCCAGGT	0.393																																					p.N45S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134G	2						.						207.0	195.0	199.0					2																	182852618		1914	4135	6049	182560863	SO:0001583	missense	151242	exon2			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.134A>G	2.37:g.182852618A>G	ENSP00000386359:p.Asn45Ser		182560863	NM_001080545	Q5HYJ5|Q8TD54	Missense_Mutation	SNP	ENST00000409137.3	37	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	A	2.993	-0.207805	0.06180	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.16	4.95	0.65309	.	0.369202	0.30940	N	0.008565	T	0.07279	0.0184	N	0.04508	-0.205	0.25643	N	0.986175	B;B	0.18461	0.003;0.028	B;B	0.15052	0.005;0.012	T	0.38351	-0.9665	10	0.02654	T	1	.	7.1933	0.25839	0.5573:0.3115:0.0:0.1312	.	52;45	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	S	45;45;52;45	ENSP00000399602:N45S;ENSP00000386359:N45S;ENSP00000280295:N52S;ENSP00000386778:N45S	ENSP00000280295:N52S	N	+	2	0	PPP1R1C	182560863	0.309000	0.24518	0.997000	0.53966	0.996000	0.88848	3.518000	0.53451	2.367000	0.80283	0.528000	0.53228	AAC		0.393	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545	
MYT1L	23040	broad.mit.edu	37	2	1855434	1855434	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:1855434C>T	ENST00000399161.2	-	19	3500	c.2753G>A	c.(2752-2754)gGc>gAc	p.G918D	MYT1L_ENST00000428368.2_Missense_Mutation_p.G916D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	918					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G918D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCATAATTGCCGGTGATATG	0.423																																					p.G916D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2747A	2						.						117.0	114.0	115.0					2																	1855434		1942	4176	6118	1834441	SO:0001583	missense	23040	exon19			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2753G>A	2.37:g.1855434C>T	ENSP00000382114:p.Gly918Asp		1834441	NM_015025	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.932066	0.73442	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.72615	-0.67;-0.65	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88953	0.3388	10	0.66056	D	0.02	-45.0511	16.934	0.86198	0.0:1.0:0.0:0.0	.	918;916	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	D	918;864;916	ENSP00000382114:G918D;ENSP00000396103:G916D	ENSP00000295067:G864D	G	-	2	0	MYT1L	1834441	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	5.513000	0.67037	2.731000	0.93534	0.557000	0.71058	GGC		0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
PDE1A	5136	broad.mit.edu	37	2	183104880	183104880	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:183104880G>A	ENST00000410103.1	-	4	438	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PDE1A_ENST00000358139.2_Missense_Mutation_p.R119W|PDE1A_ENST00000331935.6_Missense_Mutation_p.R119W|PDE1A_ENST00000536095.1_Missense_Mutation_p.R15W|PDE1A_ENST00000435564.1_Missense_Mutation_p.R119W|PDE1A_ENST00000456212.1_Missense_Mutation_p.R119W|PDE1A_ENST00000351439.5_Missense_Mutation_p.R103W|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000409365.1_Missense_Mutation_p.R103W|PDE1A_ENST00000346717.4_Missense_Mutation_p.R85W	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	119					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R119W(4)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACAATGCTCCGAAATTTTGGT	0.418																																					p.R119W												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C355T	2						.						168.0	162.0	164.0					2																	183104880		2203	4300	6503	182813125	SO:0001583	missense	5136	exon3				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.355C>T	2.37:g.183104880G>A	ENSP00000387037:p.Arg119Trp		182813125	NM_005019	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048716	0.75846	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.75367	-0.93;-0.84;-0.83;-0.9;-0.93;-0.9;-0.92;-0.92;-0.92	5.26	5.26	0.73747	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.78801	2.425	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.997;0.998;0.995	D	0.87288	0.2297	10	0.87932	D	0	.	14.7117	0.69238	0.0:0.0:0.8548:0.1452	.	15;85;119;103;119	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	W	119;85;15;103;119;103;119;119;119	ENSP00000410309:R119W;ENSP00000329112:R85W;ENSP00000439938:R15W;ENSP00000386767:R103W;ENSP00000331574:R119W;ENSP00000309269:R103W;ENSP00000387037:R119W;ENSP00000350858:R119W;ENSP00000408874:R119W	ENSP00000331574:R119W	R	-	1	2	PDE1A	182813125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.147000	0.50639	2.631000	0.89168	0.655000	0.94253	CGG		0.418	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
NCKAP1	10787	broad.mit.edu	37	2	183866974	183866974	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:183866974C>A	ENST00000361354.4	-	5	765	c.393G>T	c.(391-393)aaG>aaT	p.K131N	NCKAP1_ENST00000360982.2_Missense_Mutation_p.K137N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	131					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.K137N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTAAGTAGTTCTTTGTTAAAT	0.299																																					p.K131N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G393T	2						.						55.0	59.0	58.0					2																	183866974		2202	4296	6498	183575219	SO:0001583	missense	10787	exon5			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.393G>T	2.37:g.183866974C>A	ENSP00000355348:p.Lys131Asn		183575219	NM_013436	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682035	0.68042	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.34859	1.34;1.34	5.41	5.41	0.78517	.	0.041576	0.85682	D	0.000000	T	0.47414	0.1444	M	0.82323	2.585	0.80722	D	1	B;B	0.27971	0.107;0.196	B;B	0.30316	0.114;0.069	T	0.45862	-0.9232	10	0.33940	T	0.23	-12.9614	19.5522	0.95324	0.0:1.0:0.0:0.0	.	131;137	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	N	131;137	ENSP00000355348:K131N;ENSP00000354251:K137N	ENSP00000354251:K137N	K	-	3	2	NCKAP1	183575219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.196000	0.51020	2.689000	0.91719	0.655000	0.94253	AAG		0.299	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
DUSP19	142679	broad.mit.edu	37	2	183951833	183951833	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:183951833G>T	ENST00000354221.4	+	3	514	c.339G>T	c.(337-339)aaG>aaT	p.K113N	DUSP19_ENST00000469344.1_Intron|DUSP19_ENST00000342619.6_Intron|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	113					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.K113N(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TTACATATAAGAGCATTTCTA	0.299																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	2						.						129.0	127.0	128.0					2																	183951833		2202	4298	6500	183660078	SO:0001583	missense	142679	exon3			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.339G>T	2.37:g.183951833G>T	ENSP00000346160:p.Lys113Asn		183660078	NM_080876	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	g	17.22	3.334170	0.60853	.	.	ENSG00000162999	ENST00000354221	D	0.85629	-2.01	5.38	3.58	0.41010	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.042168	0.85682	D	0.000000	D	0.88887	0.6559	M	0.89414	3.03	0.49213	D	0.999767	P	0.43352	0.804	P	0.48089	0.566	D	0.87798	0.2623	10	0.54805	T	0.06	.	9.1732	0.37096	0.2213:0.0:0.7787:0.0	.	113	Q8WTR2	DUS19_HUMAN	N	113	ENSP00000346160:K113N	ENSP00000346160:K113N	K	+	3	2	DUSP19	183660078	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	1.733000	0.38156	0.756000	0.33013	0.651000	0.88453	AAG		0.299	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
DUSP19	142679	broad.mit.edu	37	2	183960263	183960263	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:183960263T>G	ENST00000354221.4	+	4	706	c.531T>G	c.(529-531)ttT>ttG	p.F177L	AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.F126L|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	177	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.F177L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						CCAGTGCTTTTTCTTTGGTGA	0.413																																					p.F177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T531G	2						.						137.0	140.0	139.0					2																	183960263		2203	4300	6503	183668508	SO:0001583	missense	142679	exon4			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.531T>G	2.37:g.183960263T>G	ENSP00000346160:p.Phe177Leu		183668508	NM_080876	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250518	0.39797	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.84442	-1.85;-1.85	5.74	1.8	0.24995	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.234802	0.50627	N	0.000104	T	0.66107	0.2756	N	0.11023	0.085	0.51482	D	0.999921	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.009	T	0.50676	-0.8800	10	0.12103	T	0.63	.	7.9137	0.29806	0.0:0.0687:0.2674:0.6639	.	126;177	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	L	126;177	ENSP00000343905:F126L;ENSP00000346160:F177L	ENSP00000343905:F126L	F	+	3	2	DUSP19	183668508	1.000000	0.71417	0.990000	0.47175	0.794000	0.44872	0.855000	0.27805	0.427000	0.26145	0.482000	0.46254	TTT		0.413	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
ZNF804A	91752	broad.mit.edu	37	2	185463741	185463741	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:185463741C>T	ENST00000302277.6	+	1	649	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	19							metal ion binding (GO:0046872)	p.R19C(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CGGACACTTTCGCAACATCAA	0.552																																					p.R19C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55T	2						.						78.0	78.0	78.0					2																	185463741		2203	4300	6503	185171986	SO:0001583	missense	91752	exon1			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.55C>T	2.37:g.185463741C>T	ENSP00000303252:p.Arg19Cys		185171986	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626554	0.87560	.	.	ENSG00000170396	ENST00000302277	T	0.11712	2.75	4.04	4.04	0.47022	.	0.000000	0.32753	U	0.005690	T	0.21062	0.0507	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	10	0.87932	D	0	.	14.8266	0.70117	0.0:1.0:0.0:0.0	.	19	Q7Z570	Z804A_HUMAN	C	19	ENSP00000303252:R19C	ENSP00000303252:R19C	R	+	1	0	ZNF804A	185171986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.756000	0.74919	1.803000	0.52742	0.650000	0.86243	CGC		0.552	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ZNF804A	91752	broad.mit.edu	37	2	185801207	185801207	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:185801207G>T	ENST00000302277.6	+	4	1678	c.1084G>T	c.(1084-1086)Gtt>Ttt	p.V362F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	362							metal ion binding (GO:0046872)	p.V362F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAATCCACAGTTCTTGACAT	0.368																																					p.V362F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084T	2						.						58.0	54.0	55.0					2																	185801207		2203	4300	6503	185509452	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1084G>T	2.37:g.185801207G>T	ENSP00000303252:p.Val362Phe		185509452	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	3.660	-0.069626	0.07228	.	.	ENSG00000170396	ENST00000302277	T	0.50813	0.73	5.6	-0.764	0.11027	.	2.163160	0.01787	N	0.032085	T	0.38453	0.1041	L	0.56769	1.78	0.09310	N	1	P	0.41265	0.744	B	0.34180	0.177	T	0.21381	-1.0247	10	0.35671	T	0.21	1.2065	2.4948	0.04619	0.2753:0.1134:0.4946:0.1167	.	362	Q7Z570	Z804A_HUMAN	F	362	ENSP00000303252:V362F	ENSP00000303252:V362F	V	+	1	0	ZNF804A	185509452	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.420000	0.21263	-0.183000	0.10585	-0.958000	0.02645	GTT		0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ZNF804A	91752	broad.mit.edu	37	2	185802023	185802023	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:185802023C>A	ENST00000302277.6	+	4	2494	c.1900C>A	c.(1900-1902)Cta>Ata	p.L634I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	634							metal ion binding (GO:0046872)	p.L634I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGGAAATATCTATTGGAACC	0.358																																					p.L634I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1900A	2						.						96.0	106.0	103.0					2																	185802023		2203	4296	6499	185510268	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1900C>A	2.37:g.185802023C>A	ENSP00000303252:p.Leu634Ile		185510268	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	4.068	0.010449	0.07912	.	.	ENSG00000170396	ENST00000302277	T	0.05996	3.36	5.51	1.36	0.22044	.	1.284690	0.05745	N	0.602125	T	0.05960	0.0155	L	0.44542	1.39	0.09310	N	1	B	0.26195	0.144	B	0.18561	0.022	T	0.42849	-0.9427	10	0.33940	T	0.23	-0.2628	2.4147	0.04433	0.1156:0.4572:0.186:0.2412	.	634	Q7Z570	Z804A_HUMAN	I	634	ENSP00000303252:L634I	ENSP00000303252:L634I	L	+	1	2	ZNF804A	185510268	0.000000	0.05858	0.019000	0.16419	0.343000	0.28985	-1.965000	0.01511	0.290000	0.22444	0.655000	0.94253	CTA		0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
NT5C1B	93034	broad.mit.edu	37	2	18765849	18765849	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:18765849G>A	ENST00000359846.2	-	5	911	c.834C>T	c.(832-834)taC>taT	p.Y278Y	NT5C1B_ENST00000460052.1_5'Flank|NT5C1B-RDH14_ENST00000532967.1_Silent_p.Y278Y|NT5C1B_ENST00000600945.1_Silent_p.Y278Y|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000304081.4_Silent_p.Y218Y	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	278					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.Y278Y(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGGCAGCCTCGTAGTCGTCCT	0.697																																					p.Y218Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654T	2						.						17.0	19.0	18.0					2																	18765849		2201	4300	6501	18629330	SO:0001819	synonymous_variant	93034	exon4			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.834C>T	2.37:g.18765849G>A			18629330	NM_033253	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	CCDS33150.1																																																																																				0.697	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
ZNF804A	91752	broad.mit.edu	37	2	185803350	185803350	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:185803350C>T	ENST00000302277.6	+	4	3821	c.3227C>T	c.(3226-3228)cCc>cTc	p.P1076L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1076							metal ion binding (GO:0046872)	p.P1076L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCCCTCCCACCCCCTAGCACA	0.493																																					p.P1076L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3227T	2						.						92.0	87.0	89.0					2																	185803350		2203	4300	6503	185511595	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3227C>T	2.37:g.185803350C>T	ENSP00000303252:p.Pro1076Leu		185511595	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195496	0.09599	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	4.54	3.66	0.41972	.	0.000000	0.38492	N	0.001673	T	0.11922	0.0290	L	0.55481	1.735	0.09310	N	0.999999	P	0.50066	0.931	P	0.45310	0.476	T	0.06625	-1.0816	10	0.66056	D	0.02	-10.5656	11.3835	0.49771	0.0:0.9125:0.0:0.0875	.	1076	Q7Z570	Z804A_HUMAN	L	1076	ENSP00000303252:P1076L	ENSP00000303252:P1076L	P	+	2	0	ZNF804A	185511595	0.054000	0.20591	0.043000	0.18650	0.273000	0.26683	3.157000	0.50716	1.124000	0.41980	0.313000	0.20887	CCC		0.493	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
FSIP2	401024	broad.mit.edu	37	2	186670828	186670828	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:186670828G>A	ENST00000424728.1	+	17	16795	c.16795G>A	c.(16795-16797)Gta>Ata	p.V5599I	FSIP2_ENST00000343098.5_Missense_Mutation_p.V5688I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5599								p.V297I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAGAAGGAAGTACTTGGATC	0.303																																					p.V5688I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G17062A	2						.						65.0	67.0	66.0					2																	186670828		1813	4059	5872	186379073	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16795G>A	2.37:g.186670828G>A	ENSP00000401306:p.Val5599Ile		186379073	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	4.332	0.061022	0.08339	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.43688	0.94;0.95	5.32	-0.187	0.13268	.	.	.	.	.	T	0.18676	0.0448	N	0.11201	0.11	0.09310	N	1	.	.	.	.	.	.	T	0.28106	-1.0054	7	0.10377	T	0.69	.	7.5712	0.27909	0.6123:0.0:0.3877:0.0	.	.	.	.	I	5688;5599	ENSP00000344403:V5688I;ENSP00000401306:V5599I	ENSP00000344403:V5688I	V	+	1	0	FSIP2	186379073	0.001000	0.12720	0.000000	0.03702	0.283000	0.27025	0.678000	0.25277	0.051000	0.15978	-0.229000	0.12294	GTA		0.303	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FSIP2	401024	broad.mit.edu	37	2	186672797	186672797	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:186672797C>A	ENST00000424728.1	+	17	18764	c.18764C>A	c.(18763-18765)tCt>tAt	p.S6255Y	FSIP2_ENST00000343098.5_Missense_Mutation_p.S6344Y			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6255								p.S953Y(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATAGTTAATTCTATTTATACC	0.333																																					p.S6344Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C19031A	2						.						36.0	34.0	34.0					2																	186672797		1807	4060	5867	186381042	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18764C>A	2.37:g.186672797C>A	ENSP00000401306:p.Ser6255Tyr		186381042	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	C	0.733	-0.779053	0.02929	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55588	0.51;0.51	5.2	2.16	0.27623	.	0.555584	0.16574	N	0.208467	T	0.43722	0.1260	N	0.19112	0.55	0.22081	N	0.999378	.	.	.	.	.	.	T	0.42447	-0.9451	8	0.87932	D	0	.	12.6787	0.56910	0.4149:0.5851:0.0:0.0	.	.	.	.	Y	6344;6255	ENSP00000344403:S6344Y;ENSP00000401306:S6255Y	ENSP00000344403:S6344Y	S	+	2	0	FSIP2	186381042	0.996000	0.38824	0.738000	0.30950	0.005000	0.04900	0.919000	0.28692	0.349000	0.23975	-2.941000	0.00086	TCT		0.333	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FSIP2	401024	broad.mit.edu	37	2	186673493	186673493	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:186673493G>T	ENST00000424728.1	+	17	19460	c.19460G>T	c.(19459-19461)aGa>aTa	p.R6487I	FSIP2_ENST00000343098.5_Missense_Mutation_p.R6576I			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6487								p.R1185I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GACGTTAATAGAATTGTTCAA	0.323																																					p.R6576I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G19727T	2						.						58.0	56.0	56.0					2																	186673493		1822	4062	5884	186381738	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19460G>T	2.37:g.186673493G>T	ENSP00000401306:p.Arg6487Ile		186381738	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	G	16.23	3.064327	0.55432	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.58652	0.32;0.33	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000027	T	0.59528	0.2200	L	0.34521	1.04	0.48135	D	0.99959	.	.	.	.	.	.	T	0.61093	-0.7132	8	0.66056	D	0.02	.	14.6656	0.68904	0.0:0.0:1.0:0.0	.	.	.	.	I	6576;6487	ENSP00000344403:R6576I;ENSP00000401306:R6487I	ENSP00000344403:R6576I	R	+	2	0	FSIP2	186381738	0.972000	0.33761	0.900000	0.35374	0.106000	0.19336	1.694000	0.37752	2.838000	0.97847	0.591000	0.81541	AGA		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
ITGAV	3685	broad.mit.edu	37	2	187521024	187521024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187521024C>T	ENST00000261023.3	+	17	1889	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Nonsense_Mutation_p.R493*|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.R503*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	539					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.R539*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGGAGCAATTCGACGAGCACT	0.413																																					p.R493X	Melanoma(58;108 1995 6081)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1477T	2						.						194.0	192.0	193.0					2																	187521024		2203	4300	6503	187229269	SO:0001587	stop_gained	3685	exon17				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1615C>T	2.37:g.187521024C>T	ENSP00000261023:p.Arg539*		187229269	NM_001144999	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	40	8.372834	0.98781	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.41	4.45	0.53987	.	0.048889	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8473	0.57837	0.2485:0.7515:0.0:0.0	.	.	.	.	X	539;503;493	.	ENSP00000261023:R539X	R	+	1	2	ITGAV	187229269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.006000	0.63978	2.541000	0.85698	0.455000	0.32223	CGA		0.413	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
ITGAV	3685	broad.mit.edu	37	2	187532454	187532454	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187532454A>G	ENST00000261023.3	+	24	2658	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.N749S|ITGAV_ENST00000374907.3_Missense_Mutation_p.N759S	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	795					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.N795S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CACAAGGAGAACCCTGAGACT	0.428																																					p.N749S	Melanoma(58;108 1995 6081)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2246G	2						.						150.0	144.0	146.0					2																	187532454		2203	4300	6503	187240699	SO:0001583	missense	3685	exon24				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2384A>G	2.37:g.187532454A>G	ENSP00000261023:p.Asn795Ser		187240699	NM_001144999	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705684	0.30232	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.44482	0.92;0.92;0.92	5.51	4.34	0.51931	Integrin alpha-2 (1);	0.324637	0.36101	N	0.002781	T	0.32912	0.0845	L	0.38175	1.15	0.47065	D	0.9993	B;B;B	0.18166	0.01;0.011;0.026	B;B;B	0.18871	0.023;0.009;0.023	T	0.05716	-1.0868	10	0.25106	T	0.35	.	12.8457	0.57829	0.864:0.136:0.0:0.0	.	749;759;795	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	S	795;759;749	ENSP00000261023:N795S;ENSP00000364042:N759S;ENSP00000404291:N749S	ENSP00000261023:N795S	N	+	2	0	ITGAV	187240699	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.661000	0.61518	0.895000	0.36342	0.528000	0.53228	AAC		0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
ITGAV	3685	broad.mit.edu	37	2	187540572	187540572	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187540572C>A	ENST00000261023.3	+	28	3120	c.2846C>A	c.(2845-2847)tCt>tAt	p.S949Y	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.S903Y|ITGAV_ENST00000374907.3_Missense_Mutation_p.S913Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	949					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.S949Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CATTCCTATTCTCTGAAGTCG	0.333																																					p.S903Y	Melanoma(58;108 1995 6081)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2708A	2						.						67.0	68.0	68.0					2																	187540572		2203	4299	6502	187248817	SO:0001583	missense	3685	exon28				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2846C>A	2.37:g.187540572C>A	ENSP00000261023:p.Ser949Tyr		187248817	NM_001144999	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	CCDS2292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.96|18.96	3.733361|3.733361	0.69189|0.69189	.|.	.|.	ENSG00000138448|ENSG00000138448	ENST00000430709|ENST00000261023;ENST00000374907;ENST00000433736	.|T;T;T	.|0.50001	.|0.76;0.76;0.76	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.219770	.|0.40385	.|N	.|0.001110	T|T	0.61135|0.61135	0.2323|0.2323	L|L	0.59436|0.59436	1.845|1.845	0.42832|0.42832	D|D	0.994024|0.994024	.|P;D;P	.|0.54047	.|0.924;0.964;0.956	.|P;P;P	.|0.55824	.|0.459;0.785;0.459	T|T	0.64786|0.64786	-0.6325|-0.6325	5|10	.|0.62326	.|D	.|0.03	.|.	18.2525|18.2525	0.90009|0.90009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|903;913;949	.|E7EWZ6;P06756-2;P06756	.|.;.;ITAV_HUMAN	I|Y	100|949;913;903	.|ENSP00000261023:S949Y;ENSP00000364042:S913Y;ENSP00000404291:S903Y	.|ENSP00000261023:S949Y	L|S	+|+	1|2	0|0	ITGAV|ITGAV	187248817|187248817	0.994000|0.994000	0.37717|0.37717	0.999000|0.999000	0.59377|0.59377	0.967000|0.967000	0.64934|0.64934	4.557000|4.557000	0.60782|0.60782	2.547000|2.547000	0.85894|0.85894	0.563000|0.563000	0.77884|0.77884	CTC|TCT		0.333	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210	
FAM171B	165215	broad.mit.edu	37	2	187626444	187626444	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187626444G>A	ENST00000304698.5	+	8	1578	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	459						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.D459N(3)|p.D459H(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACTCGGGACGATTTTAAAAT	0.368																																					p.D459N												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(1)|endometrium(1)	c.G1375A	2						.						48.0	52.0	50.0					2																	187626444		2201	4297	6498	187334689	SO:0001583	missense	165215	exon8			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1375G>A	2.37:g.187626444G>A	ENSP00000304108:p.Asp459Asn		187334689	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.855|1.855	-0.463988|-0.463988	0.04476|0.04476	.|.	.|.	ENSG00000144369|ENSG00000144369	ENST00000304698|ENST00000272804	T|.	0.30448|.	1.53|.	5.93|5.93	0.838|0.838	0.18902|0.18902	.|.	0.439260|.	0.28214|.	N|.	0.016164|.	T|T	0.08670|0.08670	0.0215|0.0215	N|N	0.02011|0.02011	-0.69|-0.69	0.23293|0.23293	N|N	0.997969|0.997969	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.36553|0.36553	-0.9743|-0.9743	10|6	0.02654|0.02654	T|T	1|1	-9.6007|-9.6007	5.3765|5.3765	0.16168|0.16168	0.5715:0.281:0.1475:0.0|0.5715:0.281:0.1475:0.0	.|.	459;460|.	Q6P995;A8K122|.	F171B_HUMAN;.|.	N|Q	459|426	ENSP00000304108:D459N|.	ENSP00000304108:D459N|ENSP00000272804:R426Q	D|R	+|+	1|2	0|0	FAM171B|FAM171B	187334689|187334689	0.998000|0.998000	0.40836|0.40836	0.990000|0.990000	0.47175|0.47175	0.974000|0.974000	0.67602|0.67602	1.698000|1.698000	0.37794|0.37794	0.114000|0.114000	0.18032|0.18032	-0.302000|-0.302000	0.09304|0.09304	GAT|CGA		0.368	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
FAM171B	165215	broad.mit.edu	37	2	187627140	187627140	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187627140G>T	ENST00000304698.5	+	8	2274	c.2071G>T	c.(2071-2073)Gac>Tac	p.D691Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	691						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.D691Y(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTCCTTTATAGACCTGAAAAA	0.522																																					p.D691Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2071T	2						.						62.0	65.0	64.0					2																	187627140		2203	4300	6503	187335385	SO:0001583	missense	165215	exon8			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2071G>T	2.37:g.187627140G>T	ENSP00000304108:p.Asp691Tyr		187335385	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122879	0.77436	.	.	ENSG00000144369	ENST00000304698	T	0.59083	0.29	6.02	6.02	0.97574	.	0.047134	0.85682	D	0.000000	T	0.74741	0.3756	L	0.60455	1.87	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.972	T	0.74717	-0.3571	10	0.87932	D	0	-21.8107	20.547	0.99278	0.0:0.0:1.0:0.0	.	691;692	Q6P995;A8K122	F171B_HUMAN;.	Y	691	ENSP00000304108:D691Y	ENSP00000304108:D691Y	D	+	1	0	FAM171B	187335385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.623000	0.83113	2.850000	0.98022	0.650000	0.86243	GAC		0.522	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
ZSWIM2	151112	broad.mit.edu	37	2	187693219	187693219	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187693219G>T	ENST00000295131.2	-	9	1433	c.1394C>A	c.(1393-1395)aCa>aAa	p.T465K		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	465					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T465K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTATTGTTGTATTTTCATA	0.284																																					p.T465K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1394A	2						.						47.0	54.0	52.0					2																	187693219		2196	4293	6489	187401464	SO:0001583	missense	151112	exon9			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1394C>A	2.37:g.187693219G>T	ENSP00000295131:p.Thr465Lys		187401464	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	g	3.985	-0.005556	0.07773	.	.	ENSG00000163012	ENST00000295131	T	0.21932	1.98	5.6	3.19	0.36642	.	0.626400	0.15219	N	0.274028	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24870	-1.0148	10	0.87932	D	0	-0.9495	6.0287	0.19669	0.7779:0.0:0.0786:0.1434	.	465	Q8NEG5	ZSWM2_HUMAN	K	465	ENSP00000295131:T465K	ENSP00000295131:T465K	T	-	2	0	ZSWIM2	187401464	0.939000	0.31865	0.001000	0.08648	0.000000	0.00434	2.288000	0.43514	0.389000	0.25086	-0.374000	0.07098	ACA		0.284	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
ZSWIM2	151112	broad.mit.edu	37	2	187702088	187702088	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:187702088G>T	ENST00000295131.2	-	5	727	c.688C>A	c.(688-690)Ctt>Att	p.L230I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	230					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L230I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GGAATCCCAAGGTGTTTGTCC	0.363																																					p.L230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688A	2						.						124.0	120.0	121.0					2																	187702088		2203	4300	6503	187410333	SO:0001583	missense	151112	exon5			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.688C>A	2.37:g.187702088G>T	ENSP00000295131:p.Leu230Ile		187410333	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578643	0.86645	.	.	ENSG00000163012	ENST00000295131	D	0.87966	-2.32	5.77	5.77	0.91146	Zinc finger, ZZ-type (2);	0.000000	0.45126	D	0.000386	D	0.91821	0.7412	L	0.58669	1.825	0.46631	D	0.999134	D	0.64830	0.994	D	0.67103	0.949	D	0.91804	0.5454	10	0.59425	D	0.04	-15.951	16.8897	0.86084	0.0:0.0:1.0:0.0	.	230	Q8NEG5	ZSWM2_HUMAN	I	230	ENSP00000295131:L230I	ENSP00000295131:L230I	L	-	1	0	ZSWIM2	187410333	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.134000	0.77268	2.729000	0.93468	0.591000	0.81541	CTT		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
TFPI	7035	broad.mit.edu	37	2	188343478	188343478	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:188343478T>G	ENST00000233156.3	-	6	923				TFPI_ENST00000392365.1_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.Q227H|TFPI_ENST00000409676.1_Missense_Mutation_p.Q227H|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q227H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TCAGAAAGACTTGGTAAATAT	0.343																																					p.Q227H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A681C	2						.						148.0	131.0	137.0					2																	188343478		2203	4300	6503	188051723	SO:0001627	intron_variant	7035	exon7				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5372A>C	2.37:g.188343478T>G			188051723	NM_001032281	O95103|Q53TS4	Intron	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.738869	0.69304	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.66995	-0.24;-0.24	4.72	4.72	0.59763	.	.	.	.	.	T	0.78329	0.4266	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.78211	-0.2292	8	0.40728	T	0.16	.	11.9624	0.53015	0.0:0.0:0.0:1.0	.	227	P10646-2	.	H	227	ENSP00000386344:Q227H;ENSP00000342306:Q227H	ENSP00000342306:Q227H	Q	-	3	2	TFPI	188051723	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.777000	0.38604	1.738000	0.51689	0.455000	0.32223	CAA		0.343	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287	
TFPI	7035	broad.mit.edu	37	2	188368484	188368484	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:188368484T>G	ENST00000233156.3	-	2	306	c.12A>C	c.(10-12)acA>acC	p.T4T	TFPI_ENST00000392365.1_Silent_p.T4T|TFPI_ENST00000339091.4_Silent_p.T4T|TFPI_ENST00000409676.1_Silent_p.T4T|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	4					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T4T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CTTTCTTCATTGTGTAAATCA	0.373																																					p.T4T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A12C	2						.						118.0	112.0	114.0					2																	188368484		2203	4300	6503	188076729	SO:0001819	synonymous_variant	7035	exon2				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.12A>C	2.37:g.188368484T>G			188076729	NM_006287	O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	CCDS2294.1																																																																																				0.373	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287	
GULP1	51454	broad.mit.edu	37	2	189393889	189393889	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:189393889T>G	ENST00000409580.1	+	7	942	c.228T>G	c.(226-228)atT>atG	p.I76M	GULP1_ENST00000409637.3_Missense_Mutation_p.I76M|GULP1_ENST00000359135.3_Missense_Mutation_p.I76M|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409843.1_Missense_Mutation_p.I76M|GULP1_ENST00000410051.1_Missense_Mutation_p.I76M|GULP1_ENST00000409830.1_Missense_Mutation_p.I76M|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409609.1_Missense_Mutation_p.I76M			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	76	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.I76M(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AAATATCAATTTATGGAGTAA	0.294																																					p.I76M	Pancreas(178;563 2065 20199 42378 52815)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T228G	2						.						42.0	48.0	46.0					2																	189393889		2195	4282	6477	189102134	SO:0001583	missense	51454	exon6			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.228T>G	2.37:g.189393889T>G	ENSP00000386289:p.Ile76Met		189102134	NM_016315	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	CCDS2295.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246274	0.59103	.	.	ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000410051;ENST00000359135;ENST00000409580;ENST00000409637;ENST00000409609	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.53	4.36	0.52297	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.053403	0.85682	D	0.000000	T	0.34890	0.0913	L	0.55213	1.73	0.58432	D	0.999994	D;P;D	0.76494	0.999;0.946;0.999	D;P;D	0.87578	0.998;0.823;0.996	T	0.11891	-1.0569	10	0.48119	T	0.1	-8.5929	4.5217	0.11962	0.3033:0.0809:0.0:0.6158	.	76;76;76	Q9UBP9;B8ZZ72;Q9UBP9-2	GULP1_HUMAN;.;.	M	76	ENSP00000387144:I76M;ENSP00000386732:I76M;ENSP00000387013:I76M;ENSP00000352047:I76M;ENSP00000386289:I76M;ENSP00000386402:I76M;ENSP00000386867:I76M	ENSP00000352047:I76M	I	+	3	3	GULP1	189102134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.310000	0.33551	0.899000	0.36444	0.528000	0.53228	ATT		0.294	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315	
COL3A1	1281	broad.mit.edu	37	2	189849587	189849587	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:189849587C>A	ENST00000304636.3	+	2	351	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	COL3A1_ENST00000317840.5_Missense_Mutation_p.L61I	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	61	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.L61I(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGATCCGTTCTCTGCGATGA	0.473																																					p.L61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C181A	2						.						160.0	137.0	145.0					2																	189849587		2203	4299	6502	189557832	SO:0001583	missense	1281	exon2			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.181C>A	2.37:g.189849587C>A	ENSP00000304408:p.Leu61Ile		189557832	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595235	0.86953	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.72051	-0.62;-0.62	5.19	5.19	0.71726	von Willebrand factor, type C (4);	0.000000	0.41396	D	0.000893	T	0.79203	0.4406	L	0.55990	1.75	0.54753	D	0.99998	D	0.63046	0.992	P	0.61070	0.883	T	0.75306	-0.3364	10	0.27082	T	0.32	.	19.0681	0.93122	0.0:1.0:0.0:0.0	.	61	P02461	CO3A1_HUMAN	I	61	ENSP00000304408:L61I;ENSP00000315243:L61I	ENSP00000304408:L61I	L	+	1	0	COL3A1	189557832	0.977000	0.34250	1.000000	0.80357	0.919000	0.55068	2.363000	0.44178	2.573000	0.86826	0.467000	0.42956	CTC		0.473	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
COL5A2	1290	broad.mit.edu	37	2	189923576	189923576	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:189923576C>A	ENST00000374866.3	-	32	2403	c.2129G>T	c.(2128-2130)aGa>aTa	p.R710I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	710					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.R710I(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)			AATACTTACTCTAGGTCCTAA	0.343																																					p.R710I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2129T	2						.						43.0	44.0	44.0					2																	189923576		2203	4300	6503	189631821	SO:0001630	splice_region_variant	1290	exon32			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.2130+1G>T	2.37:g.189923576C>A			189631821	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393887	0.83011	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93547	-3.24	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000055	D	0.96090	0.8726	M	0.62266	1.93	0.80722	D	1	D;D	0.65815	0.995;0.985	D;D	0.77004	0.986;0.989	D	0.95347	0.8443	9	.	.	.	.	19.0449	0.93015	0.0:1.0:0.0:0.0	.	350;710	Q5PR22;P05997	.;CO5A2_HUMAN	I	710;350	ENSP00000364000:R710I	.	R	-	2	0	COL5A2	189631821	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.485000	0.81204	2.587000	0.87381	0.563000	0.77884	AGA		0.343	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Missense_Mutation
ANKAR	150709	broad.mit.edu	37	2	190584461	190584461	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:190584461G>A	ENST00000520309.1	+	11	2476	c.2388G>A	c.(2386-2388)gaG>gaA	p.E796E	ANKAR_ENST00000281412.6_Silent_p.E560E|ANKAR_ENST00000431575.2_Silent_p.E725E|ANKAR_ENST00000438402.2_Silent_p.E796E|ANKAR_ENST00000313581.4_Silent_p.E796E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	796						integral component of membrane (GO:0016021)		p.E725E(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTTGTGATGAGCCTGAAGTAC	0.393																																					p.E796E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2388A	2						.						140.0	122.0	128.0					2																	190584461		2203	4300	6503	190292706	SO:0001819	synonymous_variant	150709	exon11			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2388G>A	2.37:g.190584461G>A			190292706	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	CCDS33351.2																																																																																				0.393	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
ANKAR	150709	broad.mit.edu	37	2	190592792	190592792	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:190592792C>T	ENST00000520309.1	+	13	2934	c.2846C>T	c.(2845-2847)tCg>tTg	p.S949L	ANKAR_ENST00000281412.6_Missense_Mutation_p.S724L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S878L|ANKAR_ENST00000438402.2_Missense_Mutation_p.S949L|ANKAR_ENST00000313581.4_Missense_Mutation_p.S949L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	949						integral component of membrane (GO:0016021)		p.S878L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGGAAAAATCGTTAACTAAA	0.313																																					p.S949L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2846T	2						.						45.0	50.0	48.0					2																	190592792		2202	4300	6502	190301037	SO:0001583	missense	150709	exon13			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2846C>T	2.37:g.190592792C>T	ENSP00000427882:p.Ser949Leu		190301037	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895509	0.33442	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412;ENST00000374838	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.43	3.53	0.40419	.	0.748575	0.11776	N	0.530648	T	0.23532	0.0569	L	0.51422	1.61	0.09310	N	1	P	0.49358	0.923	B	0.34180	0.177	T	0.13442	-1.0509	10	0.59425	D	0.04	-0.5776	7.9392	0.29948	0.2094:0.7033:0.0:0.0873	.	25	E9PHS9	.	L	949;949;949;878;724;25	ENSP00000427882:S949L;ENSP00000313513:S949L;ENSP00000397243:S949L;ENSP00000393043:S878L;ENSP00000281412:S724L	ENSP00000281412:S724L	S	+	2	0	ANKAR	190301037	0.046000	0.20272	0.001000	0.08648	0.840000	0.47671	2.106000	0.41835	0.743000	0.32719	0.563000	0.77884	TCG		0.313	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
ANKAR	150709	broad.mit.edu	37	2	190603401	190603401	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:190603401C>A	ENST00000520309.1	+	19	3781	c.3693C>A	c.(3691-3693)gtC>gtA	p.V1231V	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1160V|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.V1231V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1231						integral component of membrane (GO:0016021)		p.V1160V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTATTGTCTTGACAGGTA	0.299																																					p.V1231V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3693A	2						.						113.0	109.0	110.0					2																	190603401		2202	4300	6502	190311646	SO:0001819	synonymous_variant	150709	exon19			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3693C>A	2.37:g.190603401C>A			190311646	NM_144708	Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	CCDS33351.2																																																																																				0.299	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708	
PMS1	5378	broad.mit.edu	37	2	190660567	190660567	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:190660567A>C	ENST00000441310.2	+	3	438	c.205A>C	c.(205-207)Atg>Ctg	p.M69L	PMS1_ENST00000409823.3_Missense_Mutation_p.M69L|PMS1_ENST00000374826.4_Missense_Mutation_p.M69L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Missense_Mutation_p.M69L|PMS1_ENST00000447232.2_Missense_Mutation_p.M69L|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	69					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.M69L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGCACCTGTAATGGCAATGAA	0.368			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.M69L		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A205C	2						.						100.0	98.0	99.0					2																	190660567		2203	4300	6503	190368812	SO:0001583	missense	5378	exon3				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.205A>C	2.37:g.190660567A>C	ENSP00000406490:p.Met69Leu		190368812	NM_000534	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254404	0.59212	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	T;T;T;T;T;T;D	0.88354	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-2.37	5.78	5.78	0.91487	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.101045	0.85682	D	0.000000	D	0.88562	0.6470	N	0.13140	0.3	0.80722	D	1	P;P;P;P;P;B;B	0.50156	0.756;0.642;0.898;0.932;0.549;0.379;0.379	P;P;P;D;P;P;P	0.63793	0.678;0.673;0.823;0.918;0.708;0.549;0.627	D	0.87833	0.2646	10	0.28530	T	0.3	-14.5419	16.1121	0.81271	1.0:0.0:0.0:0.0	.	69;69;69;69;69;69;69	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	L	69	ENSP00000406490:M69L;ENSP00000386623:M69L;ENSP00000387125:M69L;ENSP00000363959:M69L;ENSP00000410082:M69L;ENSP00000401064:M69L;ENSP00000391136:M69L	ENSP00000343888:M69L	M	+	1	0	PMS1	190368812	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.288000	0.96055	2.213000	0.71641	0.519000	0.50382	ATG		0.368	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
STAT4	6775	broad.mit.edu	37	2	191919243	191919243	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:191919243C>G	ENST00000392320.2	-	14	1538	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	STAT4_ENST00000358470.4_Missense_Mutation_p.K408N	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	408					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.K408N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCACTGGACTTCATTTCCT	0.323																																					p.K408N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1224C	2						.						106.0	115.0	112.0					2																	191919243		2203	4300	6503	191627488	SO:0001583	missense	6775	exon14				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1224G>C	2.37:g.191919243C>G	ENSP00000376134:p.Lys408Asn		191627488	NM_003151	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999030	0.54147	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.79845	-1.31;-1.31	5.0	3.17	0.36434	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.83133	0.5188	M	0.76838	2.35	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.936	P;P;P	0.52881	0.712;0.712;0.644	T	0.82833	-0.0262	10	0.87932	D	0	-25.8312	5.7349	0.18061	0.0:0.6709:0.0:0.3291	.	317;408;408	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	408	ENSP00000351255:K408N;ENSP00000376134:K408N	ENSP00000351255:K408N	K	-	3	2	STAT4	191627488	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	0.307000	0.19296	1.088000	0.41272	0.313000	0.20887	AAG		0.323	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
STAT4	6775	broad.mit.edu	37	2	192012886	192012886	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192012886A>C	ENST00000392320.2	-	2	358	c.44T>G	c.(43-45)tTg>tGg	p.L15W	STAT4_ENST00000409995.1_Missense_Mutation_p.L15W|STAT4_ENST00000358470.4_Missense_Mutation_p.L15W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	15					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L15W(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CACCTGCTCCAAAAACTTGAT	0.368																																					p.L15W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T44G	2						.						110.0	107.0	108.0					2																	192012886		2203	4300	6503	191721131	SO:0001583	missense	6775	exon2				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.44T>G	2.37:g.192012886A>C	ENSP00000376134:p.Leu15Trp		191721131	NM_003151	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596426	0.66332	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000409995;ENST00000450994;ENST00000432798	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.73	5.73	0.89815	STAT transcription factor, protein interaction (4);	0.000000	0.64402	D	0.000010	T	0.78375	0.4273	M	0.82517	2.595	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.995	T	0.81927	-0.0709	10	0.87932	D	0	-16.2208	16.0048	0.80354	1.0:0.0:0.0:0.0	.	15;15;15	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	W	15	ENSP00000351255:L15W;ENSP00000376134:L15W;ENSP00000386288:L15W;ENSP00000412397:L15W;ENSP00000414322:L15W	ENSP00000351255:L15W	L	-	2	0	STAT4	191721131	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.288000	0.96055	2.190000	0.69967	0.533000	0.62120	TTG		0.368	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
MYO1B	4430	broad.mit.edu	37	2	192228559	192228559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192228559C>T	ENST00000392318.3	+	10	1118	c.871C>T	c.(871-873)Cga>Tga	p.R291*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R291*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R291*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R291*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	291	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R291R(2)|p.R291*(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCCGAATCTCGAGTGAATGG	0.438																																					p.R291X												.	.	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	lung(2)|large_intestine(1)	c.C871T	2						.						132.0	121.0	125.0					2																	192228559		2203	4300	6503	191936804	SO:0001587	stop_gained	4430	exon10			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.871C>T	2.37:g.192228559C>T	ENSP00000376132:p.Arg291*		191936804	NM_012223	O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243458	0.95272	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	18.5018	0.90884	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000306382:R291X	R	+	1	2	MYO1B	191936804	1.000000	0.71417	0.945000	0.38365	0.853000	0.48598	7.423000	0.80229	2.810000	0.96702	0.650000	0.86243	CGA		0.438	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
MYO1B	4430	broad.mit.edu	37	2	192257898	192257898	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192257898C>A	ENST00000392318.3	+	20	2423	c.2176C>A	c.(2176-2178)Cta>Ata	p.L726I	MYO1B_ENST00000339514.4_Missense_Mutation_p.L726I|MYO1B_ENST00000304164.4_Missense_Mutation_p.L726I|MYO1B_ENST00000392316.1_Missense_Mutation_p.L726I|MYO1B_ENST00000439065.2_5'UTR	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	726	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.L726I(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACACTTCCTGCTAATGAAAAA	0.428																																					p.L726I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2176A	2						.						98.0	95.0	96.0					2																	192257898		2203	4300	6503	191966143	SO:0001583	missense	4430	exon20			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2176C>A	2.37:g.192257898C>A	ENSP00000376132:p.Leu726Ile		191966143	NM_012223	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675301	0.47781	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	6.05	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.65893	0.2735	L	0.45285	1.41	0.80722	D	1	B;B	0.27971	0.105;0.196	B;B	0.35240	0.097;0.198	T	0.61579	-0.7034	10	0.33141	T	0.24	.	13.9143	0.63887	0.0:0.8883:0.0:0.1117	.	726;726	O43795;O43795-2	MYO1B_HUMAN;.	I	726	ENSP00000341903:L726I;ENSP00000376132:L726I;ENSP00000306382:L726I;ENSP00000376130:L726I	ENSP00000306382:L726I	L	+	1	2	MYO1B	191966143	0.995000	0.38212	0.998000	0.56505	0.655000	0.38815	1.343000	0.33930	2.878000	0.98634	0.650000	0.86243	CTA		0.428	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
MYO1B	4430	broad.mit.edu	37	2	192265111	192265111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192265111C>T	ENST00000392318.3	+	22	2546	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R767*|MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R767*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R767*|MYO1B_ENST00000439065.2_Nonsense_Mutation_p.R41*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	767	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R767*(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CCTTTAGGCTCGAAAAATTCT	0.453																																					p.R767X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2299T	2						.						80.0	85.0	83.0					2																	192265111		2203	4300	6503	191973356	SO:0001587	stop_gained	4430	exon22			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2299C>T	2.37:g.192265111C>T	ENSP00000376132:p.Arg767*		191973356	NM_012223	O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	40	8.016298	0.98610	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	.	.	.	5.54	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3204	0.66482	0.148:0.852:0.0:0.0	.	.	.	.	X	767;767;767;767;41	.	ENSP00000306382:R767X	R	+	1	2	MYO1B	191973356	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.432000	0.59922	1.303000	0.44873	0.650000	0.86243	CGA		0.453	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
TMEFF2	23671	broad.mit.edu	37	2	192818493	192818493	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192818493G>A	ENST00000272771.5	-	9	2124	c.940C>T	c.(940-942)Cct>Tct	p.P314S	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000392314.1_Missense_Mutation_p.P314S|AC098617.1_ENST00000424116.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	314	Required for shedding.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.P314S(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATCGTACAGGACCGGGAACA	0.443																																					p.P314S	Pancreas(50;1277 1381 28487 47072)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940T	2						.						137.0	117.0	124.0					2																	192818493		2203	4300	6503	192526738	SO:0001583	missense	23671	exon9			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.940C>T	2.37:g.192818493G>A	ENSP00000272771:p.Pro314Ser		192526738	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897329	0.33535	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.57752	0.38;2.62	5.86	5.86	0.93980	.	0.114616	0.64402	D	0.000007	T	0.36635	0.0974	N	0.12182	0.205	0.80722	D	1	B	0.17038	0.02	B	0.14023	0.01	T	0.25117	-1.0141	10	0.10377	T	0.69	-11.4153	20.1986	0.98248	0.0:0.0:1.0:0.0	.	314	Q9UIK5	TEFF2_HUMAN	S	314	ENSP00000376128:P314S;ENSP00000272771:P314S	ENSP00000272771:P314S	P	-	1	0	TMEFF2	192526738	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	6.033000	0.70925	2.781000	0.95711	0.650000	0.86243	CCT		0.443	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
TMEFF2	23671	broad.mit.edu	37	2	192863870	192863870	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:192863870A>G	ENST00000272771.5	-	6	1785	c.601T>C	c.(601-603)Tct>Cct	p.S201P	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000392314.1_Missense_Mutation_p.S201P|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	201	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.S201P(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTATCATAAGATTTCCCATCA	0.368																																					p.S201P	Pancreas(50;1277 1381 28487 47072)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T601C	2						.						133.0	125.0	127.0					2																	192863870		2203	4299	6502	192572115	SO:0001583	missense	23671	exon6			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.601T>C	2.37:g.192863870A>G	ENSP00000272771:p.Ser201Pro		192572115	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788975	0.90367	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.04360	3.64;3.64	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.054825	0.85682	N	0.000000	T	0.25938	0.0632	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01413	-1.1361	10	0.66056	D	0.02	-12.7777	16.3426	0.83092	1.0:0.0:0.0:0.0	.	201	Q9UIK5	TEFF2_HUMAN	P	201	ENSP00000376128:S201P;ENSP00000272771:S201P	ENSP00000272771:S201P	S	-	1	0	TMEFF2	192572115	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.910000	0.92685	2.317000	0.78254	0.460000	0.39030	TCT		0.368	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
SLC39A10	57181	broad.mit.edu	37	2	196545682	196545682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196545682C>T	ENST00000409086.3	+	2	1191	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.R306*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	306					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R306*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGTGAACTTCGACATACTAG	0.368																																					p.R306X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C916T	2						.						93.0	82.0	86.0					2																	196545682		2203	4300	6503	196253927	SO:0001587	stop_gained	57181	exon2				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.916C>T	2.37:g.196545682C>T	ENSP00000386766:p.Arg306*		196253927	NM_001127257	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Nonsense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	37	6.417795	0.97550	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	.	.	.	4.69	3.79	0.43588	.	0.736580	0.12915	N	0.428630	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3264	0.32160	0.1524:0.7673:0.0:0.0802	.	.	.	.	X	306	.	ENSP00000352655:R306X	R	+	1	2	SLC39A10	196253927	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	2.736000	0.47385	2.439000	0.82584	0.655000	0.94253	CGA		0.368	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707	
DNAH7	56171	broad.mit.edu	37	2	196636525	196636525	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196636525G>A	ENST00000312428.6	-	61	11392	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F	DNAH7_ENST00000409063.1_Silent_p.F247F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3764					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.F3764F(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCGATGTCGAAGTTGTTTG	0.448																																					p.F3764F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C11292T	2						.						261.0	242.0	248.0					2																	196636525		2013	4163	6176	196344770	SO:0001819	synonymous_variant	56171	exon61			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11292C>T	2.37:g.196636525G>A			196344770	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.448	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196722144	196722144	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196722144C>T	ENST00000312428.6	-	44	8471	c.8371G>A	c.(8371-8373)Gaa>Aaa	p.E2791K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2791	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.E2791K(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACAGACCTTCGGCCGCTGTA	0.368																																					p.E2791K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8371A	2						.						85.0	80.0	81.0					2																	196722144		1826	4079	5905	196430389	SO:0001583	missense	56171	exon44			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8371G>A	2.37:g.196722144C>T	ENSP00000311273:p.Glu2791Lys		196430389	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148022	0.94603	.	.	ENSG00000118997	ENST00000312428	T	0.56611	0.45	5.37	5.37	0.77165	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.61792	-0.6990	10	0.20046	T	0.44	.	18.9064	0.92464	0.0:1.0:0.0:0.0	.	2791	Q8WXX0	DYH7_HUMAN	K	2791	ENSP00000311273:E2791K	ENSP00000311273:E2791K	E	-	1	0	DNAH7	196430389	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	5.912000	0.69948	2.788000	0.95919	0.650000	0.86243	GAA		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196737058	196737058	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196737058G>A	ENST00000312428.6	-	40	6649	c.6549C>T	c.(6547-6549)ttC>ttT	p.F2183F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2183	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.F2183F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACACGGGAGAAATCACGGA	0.393																																					p.F2183F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6549T	2						.						161.0	149.0	153.0					2																	196737058		1862	4102	5964	196445303	SO:0001819	synonymous_variant	56171	exon40			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6549C>T	2.37:g.196737058G>A			196445303	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196774763	196774763	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196774763T>C	ENST00000312428.6	-	25	4192	c.4092A>G	c.(4090-4092)ggA>ggG	p.G1364G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1364	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G1364G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAGAATTTTCCCAAAGCCA	0.358																																					p.G1364G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4092G	2						.						68.0	66.0	67.0					2																	196774763		1831	4093	5924	196483008	SO:0001819	synonymous_variant	56171	exon25			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4092A>G	2.37:g.196774763T>C			196483008	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196791207	196791207	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196791207A>G	ENST00000312428.6	-	22	3655	c.3555T>C	c.(3553-3555)tgT>tgC	p.C1185C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1185	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.C1185C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGGGATACACAGAGAACAG	0.358																																					p.C1185C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3555C	2						.						117.0	107.0	110.0					2																	196791207		1817	4074	5891	196499452	SO:0001819	synonymous_variant	56171	exon22			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3555T>C	2.37:g.196791207A>G			196499452	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196865559	196865559	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196865559G>T	ENST00000312428.6	-	12	1322	c.1222C>A	c.(1222-1224)Ctt>Att	p.L408I	DNAH7_ENST00000410072.1_Missense_Mutation_p.L408I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	408	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L408I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATTATCAAGAATCAGCCTC	0.318																																					p.L408I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1222A	2						.						104.0	102.0	103.0					2																	196865559		1824	4075	5899	196573804	SO:0001583	missense	56171	exon12			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1222C>A	2.37:g.196865559G>T	ENSP00000311273:p.Leu408Ile		196573804	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474840	0.63737	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.23950	1.88;2.72	5.61	5.61	0.85477	.	.	.	.	.	T	0.33089	0.0851	M	0.66939	2.045	0.48040	D	0.999572	B	0.09022	0.002	B	0.08055	0.003	T	0.06463	-1.0825	9	0.49607	T	0.09	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	408	Q8WXX0	DYH7_HUMAN	I	408	ENSP00000311273:L408I;ENSP00000386260:L408I	ENSP00000311273:L408I	L	-	1	0	DNAH7	196573804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.224000	0.51238	2.655000	0.90218	0.637000	0.83480	CTT		0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196889185	196889185	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196889185C>A	ENST00000312428.6	-	8	811	c.711G>T	c.(709-711)aaG>aaT	p.K237N	DNAH7_ENST00000410072.1_Missense_Mutation_p.K237N	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	237	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K237N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCTGTCTTCTTATCATCTC	0.303																																					p.K237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G711T	2						.						94.0	89.0	91.0					2																	196889185		1816	4075	5891	196597430	SO:0001583	missense	56171	exon8			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.711G>T	2.37:g.196889185C>A	ENSP00000311273:p.Lys237Asn		196597430	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662877	0.29515	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.22539	1.95;2.87	5.03	-0.936	0.10419	.	0.399649	0.25230	N	0.032167	T	0.15609	0.0376	M	0.64997	1.995	0.09310	N	1	B	0.25772	0.134	B	0.24155	0.051	T	0.31138	-0.9954	10	0.13853	T	0.58	.	6.0706	0.19887	0.0:0.2672:0.3886:0.3442	.	237	Q8WXX0	DYH7_HUMAN	N	237	ENSP00000311273:K237N;ENSP00000386260:K237N	ENSP00000311273:K237N	K	-	3	2	DNAH7	196597430	0.028000	0.19301	0.041000	0.18516	0.598000	0.36846	-0.103000	0.10940	-0.013000	0.14199	-0.345000	0.07892	AAG		0.303	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196912113	196912113	+	Nonsense_Mutation	SNP	G	G	A	rs199830438		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:196912113G>A	ENST00000312428.6	-	5	461	c.361C>T	c.(361-363)Cga>Tga	p.R121*	DNAH7_ENST00000410072.1_Nonsense_Mutation_p.R121*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	121	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R121*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTTTCTCGTTCTTTATGT	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16718	0.0		0.0	False		,,,				2504	0.0				p.R121X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C361T	2						.						170.0	165.0	167.0					2																	196912113		1840	4080	5920	196620358	SO:0001587	stop_gained	56171	exon5			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.361C>T	2.37:g.196912113G>A	ENSP00000311273:p.Arg121*		196620358	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722614	0.48728	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	.	.	.	5.2	2.31	0.28768	.	0.290168	0.27866	N	0.017532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0742	0.48021	0.0:0.0:0.5194:0.4806	.	.	.	.	X	121;121;121;96	.	ENSP00000311273:R121X	R	-	1	2	DNAH7	196620358	0.982000	0.34865	0.983000	0.44433	0.097000	0.18754	0.631000	0.24568	0.293000	0.22520	-0.230000	0.12252	CGA		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	broad.mit.edu	37	2	197135951	197135951	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197135951G>A	ENST00000260983.3	-	17	3483	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	HECW2_ENST00000409111.1_Missense_Mutation_p.R745C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1101					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1101C(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGGTTGACGCTCCTGTAGA	0.328																																					p.R1101C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3301T	2						.						86.0	83.0	84.0					2																	197135951		2203	4300	6503	196844196	SO:0001583	missense	57520	exon17			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3301C>T	2.37:g.197135951G>A	ENSP00000260983:p.Arg1101Cys		196844196	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443908	0.83993	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.85171	-1.95;-1.95	5.72	5.72	0.89469	.	0.054030	0.64402	D	0.000001	D	0.89241	0.6659	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	P	0.50791	0.65	D	0.90194	0.4252	10	0.87932	D	0	.	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1101	Q9P2P5	HECW2_HUMAN	C	745;1101	ENSP00000386775:R745C;ENSP00000260983:R1101C	ENSP00000260983:R1101C	R	-	1	0	HECW2	196844196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.302000	0.78861	2.706000	0.92434	0.467000	0.42956	CGT		0.328	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
CCDC150	284992	broad.mit.edu	37	2	197511125	197511125	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197511125G>A	ENST00000389175.4	+	2	208	c.73G>A	c.(73-75)Gct>Act	p.A25T	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000423093.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	25								p.A25T(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CAACGCTACAGCTTCTGAAAC	0.418																																					p.A25T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73A	2						.						166.0	154.0	158.0					2																	197511125		1928	4118	6046	197219370	SO:0001583	missense	284992	exon2				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.73G>A	2.37:g.197511125G>A	ENSP00000373827:p.Ala25Thr		197219370	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787994	0.70337	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30448	1.53	4.53	3.64	0.41730	.	0.000000	0.64402	D	0.000002	T	0.42108	0.1188	M	0.69823	2.125	0.80722	D	1	P;P	0.46142	0.832;0.873	P;B	0.51777	0.679;0.319	T	0.37663	-0.9696	10	0.72032	D	0.01	.	8.4106	0.32640	0.1071:0.0:0.8929:0.0	.	25;25	Q8NCX0;F5H6M2	CC150_HUMAN;.	T	25	ENSP00000373827:A25T	ENSP00000373827:A25T	A	+	1	0	CCDC150	197219370	0.974000	0.33945	1.000000	0.80357	0.898000	0.52572	0.590000	0.23954	1.263000	0.44181	0.655000	0.94253	GCT		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
CCDC150	284992	broad.mit.edu	37	2	197521488	197521488	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197521488G>A	ENST00000389175.4	+	3	443	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	103								p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGGTAAATCGAATGTGCCGT	0.398																																					p.R103Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G308A	2						.						121.0	116.0	118.0					2																	197521488		1844	4102	5946	197229733	SO:0001583	missense	284992	exon3				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.308G>A	2.37:g.197521488G>A	ENSP00000373827:p.Arg103Gln		197229733	NM_001080539	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876758	0.91664	.	.	ENSG00000144395	ENST00000389175;ENST00000536389	T	0.30714	1.52	5.03	5.03	0.67393	.	0.087795	0.45606	D	0.000345	T	0.54711	0.1875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.53222	-0.8469	10	0.48119	T	0.1	-7.239	17.3013	0.87183	0.0:0.0:1.0:0.0	.	103;103	Q8NCX0;F5H6M2	CC150_HUMAN;.	Q	103	ENSP00000373827:R103Q	ENSP00000373827:R103Q	R	+	2	0	CCDC150	197229733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.421000	0.59848	2.632000	0.89209	0.655000	0.94253	CGA		0.398	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	
GTF3C3	9330	broad.mit.edu	37	2	197631330	197631330	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197631330A>C	ENST00000263956.3	-	17	2586	c.2497T>G	c.(2497-2499)Tat>Gat	p.Y833D		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	833					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.Y833D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTGATAATAGTGGATTGCA	0.458																																					p.Y833D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2497G	2						.						101.0	98.0	99.0					2																	197631330		2203	4300	6503	197339575	SO:0001583	missense	9330	exon17			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2497T>G	2.37:g.197631330A>C	ENSP00000263956:p.Tyr833Asp		197339575	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326426	0.81690	.	.	ENSG00000119041	ENST00000263956	T	0.63255	-0.03	4.78	4.78	0.61160	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80957	-0.1150	10	0.42905	T	0.14	-18.6393	14.4609	0.67448	1.0:0.0:0.0:0.0	.	833	Q9Y5Q9	TF3C3_HUMAN	D	833	ENSP00000263956:Y833D	ENSP00000263956:Y833D	Y	-	1	0	GTF3C3	197339575	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.919000	0.92770	1.989000	0.58080	0.477000	0.44152	TAT		0.458	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
GTF3C3	9330	broad.mit.edu	37	2	197650293	197650293	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197650293C>A	ENST00000263956.3	-	7	1002	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	GTF3C3_ENST00000409364.3_Missense_Mutation_p.D305Y|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	305					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.D305Y(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAAGTAACATCATTGGCTTCA	0.328																																					p.D305Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913T	2						.						102.0	95.0	97.0					2																	197650293		2202	4300	6502	197358538	SO:0001583	missense	9330	exon7			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.913G>T	2.37:g.197650293C>A	ENSP00000263956:p.Asp305Tyr		197358538	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138412	0.77775	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.42131	0.98;0.98	4.74	4.74	0.60224	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.996;0.996	D;P	0.67725	0.953;0.862	T	0.62812	-0.6775	10	0.66056	D	0.02	-25.5628	17.7339	0.88387	0.0:1.0:0.0:0.0	.	305;305	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	Y	305	ENSP00000263956:D305Y;ENSP00000386465:D305Y	ENSP00000263956:D305Y	D	-	1	0	GTF3C3	197358538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.094000	0.76944	2.176000	0.68965	0.462000	0.41574	GAT		0.328	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
PGAP1	80055	broad.mit.edu	37	2	197750597	197750597	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197750597T>G	ENST00000354764.4	-	11	1295	c.1181A>C	c.(1180-1182)aAt>aCt	p.N394T	PGAP1_ENST00000409475.1_Missense_Mutation_p.N394T|PGAP1_ENST00000409188.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	394					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.N394T(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATCCAACTATTTGTATCCTG	0.303																																					p.N394T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1181C	2						.						74.0	69.0	71.0					2																	197750597		2201	4297	6498	197458842	SO:0001583	missense	80055	exon11				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1181A>C	2.37:g.197750597T>G	ENSP00000346809:p.Asn394Thr		197458842	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	T	6.826	0.521557	0.13005	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000374738	.	.	.	4.81	3.63	0.41609	.	0.403282	0.25903	N	0.027551	T	0.19208	0.0461	N	0.03608	-0.345	0.80722	D	1	B;B	0.33073	0.023;0.396	B;B	0.26770	0.013;0.073	T	0.05550	-1.0878	9	0.20519	T	0.43	-11.5582	7.8848	0.29644	0.1833:0.0:0.0:0.8167	.	394;394	Q75T13-3;Q75T13	.;PGAP1_HUMAN	T	174;394;394;174	.	ENSP00000346809:N394T	N	-	2	0	PGAP1	197458842	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.838000	0.27572	0.951000	0.37770	0.533000	0.62120	AAT		0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
PGAP1	80055	broad.mit.edu	37	2	197781228	197781228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197781228C>A	ENST00000354764.4	-	3	505	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	PGAP1_ENST00000409475.1_Nonsense_Mutation_p.E131*|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.E89*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	131					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)	p.E131*(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCCACCAGTTCTTCATTGAAG	0.383																																					p.E131X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G391T	2						.						115.0	107.0	110.0					2																	197781228		2203	4300	6503	197489473	SO:0001587	stop_gained	80055	exon3				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.391G>T	2.37:g.197781228C>A	ENSP00000346809:p.Glu131*		197489473	NM_024989	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Nonsense_Mutation	SNP	ENST00000354764.4	37	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	37	6.447501	0.97572	.	.	ENSG00000197121	ENST00000354764;ENST00000409475;ENST00000409188	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.0818	20.0008	0.97408	0.0:1.0:0.0:0.0	.	.	.	.	X	131;131;89	.	ENSP00000346809:E131X	E	-	1	0	PGAP1	197489473	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.434000	0.80377	2.796000	0.96246	0.644000	0.83932	GAA		0.383	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989	
ANKRD44	91526	broad.mit.edu	37	2	197948209	197948209	+	Silent	SNP	C	C	T	rs150062198	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:197948209C>T	ENST00000328737.2	-	14	1342	c.1266G>A	c.(1264-1266)gcG>gcA	p.A422A	ANKRD44_ENST00000282272.8_Silent_p.A439A|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000450567.1_Silent_p.A422A|ANKRD44_ENST00000337207.5_Silent_p.A422A|ANKRD44_ENST00000409153.1_Silent_p.A447A|ANKRD44_ENST00000539527.1_Silent_p.A375A			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	447								p.A422A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGACAATTCGCAGCTGCAT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		21622	0.0		0.002	False		,,,				2504	0.0				p.A447A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	2						.	C		2,4404	4.2+/-10.8	0,2,2201	122.0	107.0	112.0		1341	-7.5	0.7	2	dbSNP_134	112	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ANKRD44	NM_001195144.1		0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538		447/994	197948209	7,12999	2203	4300	6503	197656454	SO:0001819	synonymous_variant	91526	exon14			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1266G>A	2.37:g.197948209C>T			197656454	NM_001195144	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37																																																																																					0.468	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	
COQ10B	80219	broad.mit.edu	37	2	198324793	198324793	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198324793G>T	ENST00000263960.2	+	2	380	c.242G>T	c.(241-243)aGa>aTa	p.R81I	COQ10B_ENST00000545340.1_Missense_Mutation_p.R38I|COQ10B_ENST00000409010.1_Missense_Mutation_p.R53I|COQ10B_ENST00000409398.1_Intron	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	81						mitochondrial inner membrane (GO:0005743)		p.R81I(1)		endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			TATTCAGAGAGAAGAATTTTA	0.363																																					p.R81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242T	2						.						47.0	47.0	47.0					2																	198324793		2202	4298	6500	198033038	SO:0001583	missense	80219	exon2			AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.242G>T	2.37:g.198324793G>T	ENSP00000263960:p.Arg81Ile		198033038	NM_025147	B7Z1Y4	Missense_Mutation	SNP	ENST00000263960.2	37	CCDS2319.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590872	0.96590	.	.	ENSG00000115520	ENST00000263960;ENST00000545340;ENST00000409010	T;T;T	0.26660	1.72;1.77;1.75	5.62	5.62	0.85841	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.73217	2.22	0.80722	D	1	P;P	0.50443	0.84;0.935	P;P	0.59643	0.578;0.861	T	0.49234	-0.8961	10	0.72032	D	0.01	5.8095	19.6505	0.95798	0.0:0.0:1.0:0.0	.	53;81	B8ZZV9;Q9H8M1	.;CQ10B_HUMAN	I	81;38;53	ENSP00000263960:R81I;ENSP00000442520:R38I;ENSP00000387223:R53I	ENSP00000263960:R81I	R	+	2	0	COQ10B	198033038	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.816000	0.99350	2.636000	0.89361	0.561000	0.74099	AGA		0.363	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147	
HSPD1	3329	broad.mit.edu	37	2	198353095	198353095	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198353095G>A	ENST00000388968.3	-	10	1603	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R446*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	446					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)	p.R446*(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGAATGCATCGAAGGAGGGCA	0.403																																					p.R446X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1336T	2						.						57.0	55.0	56.0					2																	198353095		2203	4300	6503	198061340	SO:0001587	stop_gained	3329	exon10			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1336C>T	2.37:g.198353095G>A	ENSP00000373620:p.Arg446*		198061340	NM_002156	B2R5M6|B7Z712|Q38L19|Q9UCR6	Nonsense_Mutation	SNP	ENST00000388968.3	37	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	G	38	6.656664	0.97739	.	.	ENSG00000144381	ENST00000388968;ENST00000345042	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0027	19.5044	0.95110	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000340019:R446X	R	-	1	2	HSPD1	198061340	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.399000	0.79935	2.685000	0.91497	0.555000	0.69702	CGA		0.403	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156	
MOB4	25843	broad.mit.edu	37	2	198415045	198415045	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198415045C>T	ENST00000323303.4	+	7	736	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	MOB4_ENST00000409916.1_Missense_Mutation_p.R62C|MOB4_ENST00000233892.4_Missense_Mutation_p.R129C|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000448447.2_Missense_Mutation_p.R140C|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.R197C|MOB4_ENST00000409360.1_Missense_Mutation_p.R129C	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	161					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R161C(1)									ATCAGTATGCCGTAGGATTTA	0.333																																					p.R129C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C385T	2						.						153.0	153.0	153.0					2																	198415045		2203	4300	6503	198123290	SO:0001583	missense	25843	exon7			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.481C>T	2.37:g.198415045C>T	ENSP00000315702:p.Arg161Cys		198123290	NM_199482	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927856	0.73327	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.24	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.86037	0.5837	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89792	0.3969	9	0.62326	D	0.03	.	14.465	0.67477	0.0:0.9291:0.0:0.0709	.	140;161	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	C	129;62;161;140;129	.	ENSP00000233892:R129C	R	+	1	0	PHOCN	198123290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.697000	0.68295	1.574000	0.49760	0.650000	0.86243	CGT		0.333	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
RFTN2	130132	broad.mit.edu	37	2	198540173	198540173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198540173C>T	ENST00000295049.4	-	1	546	c.10G>A	c.(10-12)Gga>Aga	p.G4R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	4					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.G4R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TTTCTAAGTCCGCACCCCATG	0.418																																					p.G4R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10A	2						.						111.0	121.0	118.0					2																	198540173		2203	4300	6503	198248418	SO:0001583	missense	130132	exon1			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.10G>A	2.37:g.198540173C>T	ENSP00000295049:p.Gly4Arg		198248418	NM_144629	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921053	0.92249	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.42900	0.96;0.96	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.62062	-0.6933	10	0.87932	D	0	-27.5067	18.3002	0.90160	0.0:1.0:0.0:0.0	.	4	Q52LD8	RFTN2_HUMAN	R	4	ENSP00000295049:G4R;ENSP00000398128:G4R	ENSP00000295049:G4R	G	-	1	0	RFTN2	198248418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.127000	0.77210	2.747000	0.94245	0.585000	0.79938	GGA		0.418	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
PLCL1	5334	broad.mit.edu	37	2	198948734	198948734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198948734G>T	ENST00000428675.1	+	2	891	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.E67*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	165	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E67*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCATAAAAGAGATCAGACT	0.453																																					p.E165X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G493T	2						.						91.0	98.0	96.0					2																	198948734		2203	4300	6503	198656979	SO:0001587	stop_gained	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.493G>T	2.37:g.198948734G>T	ENSP00000402861:p.Glu165*		198656979	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	38	6.898841	0.97920	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	165;67	.	.	E	+	1	0	PLCL1	198656979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.800000	0.99124	2.836000	0.97738	0.655000	0.94253	GAG		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198949647G>A	ENST00000428675.1	+	2	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.R371Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403																																					p.R469Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406A	2						.						54.0	53.0	53.0					2																	198949647		2203	4300	6503	198657892	SO:0001583	missense	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1406G>A	2.37:g.198949647G>A	ENSP00000402861:p.Arg469Gln		198657892	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414630	0.25465	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.65178	-0.14;-0.14	5.94	1.98	0.26296	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.650704	0.14405	N	0.321604	T	0.46073	0.1374	L	0.48642	1.525	0.42717	D	0.993666	B;B	0.32604	0.377;0.254	B;B	0.28232	0.087;0.055	T	0.23619	-1.0183	9	.	.	.	.	2.9874	0.05972	0.2537:0.1133:0.5166:0.1164	.	469;395	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	469;371	ENSP00000402861:R469Q;ENSP00000414138:R371Q	.	R	+	2	0	PLCL1	198657892	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	2.506000	0.45433	0.083000	0.17047	0.561000	0.74099	CGA		0.403	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Silent	SNP	C	C	T	rs151231252		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198950188C>T	ENST00000428675.1	+	2	2345	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	PLCL1_ENST00000437704.2_Silent_p.I551I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	649	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423																																					p.I649I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1947T	2						.	C		0,4406		0,0,2203	40.0	43.0	42.0		1947	-10.7	0.2	2	dbSNP_134	42	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PLCL1	NM_006226.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		649/1096	198950188	1,13003	2203	4299	6502	198658433	SO:0001819	synonymous_variant	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1947C>T	2.37:g.198950188C>T			198658433	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
PLCL1	5334	broad.mit.edu	37	2	198950507	198950507	+	Missense_Mutation	SNP	G	G	A	rs141777553		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:198950507G>A	ENST00000428675.1	+	2	2664	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R	PLCL1_ENST00000437704.2_Missense_Mutation_p.G658R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	756	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G658R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAGATACACGGAATTCCAGC	0.398																																					p.G756R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2266A	2						.	G	ARG/GLY	0,4406		0,0,2203	74.0	72.0	72.0		2266	5.4	1.0	2	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLCL1	NM_006226.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	756/1096	198950507	1,13005	2203	4300	6503	198658752	SO:0001583	missense	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2266G>A	2.37:g.198950507G>A	ENSP00000402861:p.Gly756Arg		198658752	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725236	0.68959	0.0	1.16E-4	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17528	2.27;2.27	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000004	T	0.53142	0.1778	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61879	-0.6972	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	756;682	Q15111;B4DYZ4	PLCL1_HUMAN;.	R	756;658	ENSP00000402861:G756R;ENSP00000414138:G658R	.	G	+	1	0	PLCL1	198658752	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	GGA		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
SATB2	23314	broad.mit.edu	37	2	200193515	200193515	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:200193515C>T	ENST00000417098.1	-	8	2108	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	SATB2_ENST00000443023.1_Missense_Mutation_p.R372H|SATB2_ENST00000428695.1_Missense_Mutation_p.R313H|SATB2_ENST00000260926.5_Missense_Mutation_p.R431H|SATB2_ENST00000457245.1_Missense_Mutation_p.R431H|RP11-486F17.1_ENST00000489557.2_RNA	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.R431H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGGTAGATGCGATCTCGCTC	0.562																																					p.R431H	Colon(30;262 767 11040 24421 36230)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1292A	2						.						130.0	111.0	118.0					2																	200193515		2203	4300	6503	199901760	SO:0001583	missense	23314	exon8			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1292G>A	2.37:g.200193515C>T	ENSP00000401112:p.Arg431His		199901760	NM_001172509	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225896	0.95173	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.54071	0.61;0.62;0.61;0.59;0.61	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72447	-0.4291	10	0.72032	D	0.01	-13.8548	18.8143	0.92071	0.0:1.0:0.0:0.0	.	313;431	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	431;372;431;313;431	ENSP00000401112:R431H;ENSP00000388764:R372H;ENSP00000260926:R431H;ENSP00000388581:R313H;ENSP00000405420:R431H	ENSP00000260926:R431H	R	-	2	0	SATB2	199901760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.747000	0.94245	0.650000	0.86243	CGC		0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	
TYW5	129450	broad.mit.edu	37	2	200797839	200797839	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:200797839C>T	ENST00000354611.4	-	8	1164	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	TYW5_ENST00000452512.2_5'UTR|C2orf69_ENST00000491721.1_Intron	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	300					wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.R300Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TAGGACCATTCGTCGTGCATA	0.413																																					p.R300Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G899A	2						.						164.0	151.0	155.0					2																	200797839		1891	4117	6008	200506084	SO:0001583	missense	129450	exon8			AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.899G>A	2.37:g.200797839C>T	ENSP00000346627:p.Arg300Gln		200506084	NM_001039693	B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591830	0.46214	.	.	ENSG00000162971	ENST00000354611	T	0.71222	-0.55	5.77	2.31	0.28768	.	0.231901	0.36066	N	0.002802	T	0.56108	0.1963	L	0.37800	1.135	0.42037	D	0.991054	B	0.10296	0.003	B	0.04013	0.001	T	0.47086	-0.9144	10	0.28530	T	0.3	-4.0288	9.1789	0.37129	0.0:0.7153:0.0:0.2847	.	300	A2RUC4	TYW5_HUMAN	Q	300	ENSP00000346627:R300Q	ENSP00000346627:R300Q	R	-	2	0	TYW5	200506084	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.838000	0.55828	0.571000	0.29365	-0.345000	0.07892	CGA		0.413	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3	NM_001039693	
KCTD18	130535	broad.mit.edu	37	2	201357971	201357971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201357971C>A	ENST00000359878.3	-	6	1198	c.688G>T	c.(688-690)Gag>Tag	p.E230*	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Nonsense_Mutation_p.E230*	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	230					protein homooligomerization (GO:0051260)			p.E230*(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTATCAGCTCATGAGGCACC	0.453																																					p.E230X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G688T	2						.						56.0	53.0	54.0					2																	201357971		2203	4300	6503	201066216	SO:0001587	stop_gained	130535	exon6			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.688G>T	2.37:g.201357971C>A	ENSP00000352941:p.Glu230*		201066216	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Nonsense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	39	7.493916	0.98319	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.7895	18.9668	0.92700	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000352941:E230X	E	-	1	0	KCTD18	201066216	1.000000	0.71417	0.998000	0.56505	0.744000	0.42396	5.459000	0.66685	2.880000	0.98712	0.650000	0.86243	GAG		0.453	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
SGOL2	151246	broad.mit.edu	37	2	201436604	201436604	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201436604A>C	ENST00000357799.4	+	7	1633	c.1535A>C	c.(1534-1536)aAa>aCa	p.K512T		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	512					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.K512T(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTTCAGGTAAATTTCACCAG	0.318																																					p.K512T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1535C	2						.						87.0	88.0	88.0					2																	201436604		1801	4060	5861	201144849	SO:0001583	missense	151246	exon7			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1535A>C	2.37:g.201436604A>C	ENSP00000350447:p.Lys512Thr		201144849	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384173	0.42308	.	.	ENSG00000163535	ENST00000357799	T	0.44881	0.91	5.25	1.41	0.22369	.	0.411166	0.23487	N	0.047660	T	0.52108	0.1714	M	0.66939	2.045	0.18873	N	0.999981	D;D;D	0.63046	0.992;0.992;0.977	P;P;P	0.62298	0.9;0.9;0.787	T	0.40813	-0.9543	10	0.72032	D	0.01	-4.4621	5.4509	0.16565	0.6745:0.0:0.0735:0.252	.	512;512;512	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	T	512	ENSP00000350447:K512T	ENSP00000350447:K512T	K	+	2	0	SGOL2	201144849	0.000000	0.05858	0.011000	0.14972	0.837000	0.47467	0.125000	0.15749	0.145000	0.18977	0.477000	0.44152	AAA		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
SGOL2	151246	broad.mit.edu	37	2	201438270	201438270	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201438270T>G	ENST00000357799.4	+	7	3299	c.3201T>G	c.(3199-3201)tgT>tgG	p.C1067W		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1067					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.C1067W(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAGGAGAGTGTCAGGTTAAAA	0.368																																					p.C1067W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3201G	2						.						76.0	75.0	75.0					2																	201438270		1814	4081	5895	201146515	SO:0001583	missense	151246	exon7			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3201T>G	2.37:g.201438270T>G	ENSP00000350447:p.Cys1067Trp		201146515	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966934	0.53507	.	.	ENSG00000163535	ENST00000357799	T	0.12569	2.67	5.38	2.36	0.29203	.	0.566213	0.16224	N	0.223913	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.80764	0.994;0.994;0.723	T	0.05666	-1.0871	10	0.72032	D	0.01	5.4404	3.728	0.08482	0.2069:0.5863:0.0:0.2068	.	1067;1067;1067	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	W	1067	ENSP00000350447:C1067W	ENSP00000350447:C1067W	C	+	3	2	SGOL2	201146515	0.002000	0.14202	0.002000	0.10522	0.431000	0.31685	0.001000	0.13038	0.810000	0.34279	-0.248000	0.11899	TGT		0.368	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
AOX1	316	broad.mit.edu	37	2	201523996	201523996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201523996C>A	ENST00000374700.2	+	28	3521	c.3280C>A	c.(3280-3282)Ctc>Atc	p.L1094I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1094					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L1094I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGTGGCAGATCTCAACGGTTT	0.493																																					p.L1094I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3280A	2						.						166.0	150.0	155.0					2																	201523996		2203	4300	6503	201232241	SO:0001583	missense	316	exon28			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3280C>A	2.37:g.201523996C>A	ENSP00000363832:p.Leu1094Ile		201232241	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036581	0.19669	.	.	ENSG00000138356	ENST00000374700	T	0.38077	1.16	5.15	1.23	0.21249	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.327716	0.32884	N	0.005527	T	0.20129	0.0484	N	0.25957	0.775	0.28838	N	0.896744	B	0.24576	0.106	B	0.29267	0.1	T	0.13335	-1.0513	10	0.23302	T	0.38	-14.6398	3.492	0.07641	0.1144:0.3273:0.4012:0.1571	.	1094	Q06278	ADO_HUMAN	I	1094	ENSP00000363832:L1094I	ENSP00000363832:L1094I	L	+	1	0	AOX1	201232241	1.000000	0.71417	0.873000	0.34254	0.899000	0.52679	1.257000	0.32932	0.046000	0.15833	-0.258000	0.10820	CTC		0.493	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
AOX1	316	broad.mit.edu	37	2	201533396	201533396	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201533396C>A	ENST00000374700.2	+	33	3909	c.3668C>A	c.(3667-3669)tCt>tAt	p.S1223Y	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1223					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.S1223Y(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGAATTATTCTCCCCAGGGC	0.433																																					p.S1223Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3668A	2						.						151.0	150.0	151.0					2																	201533396		2203	4300	6503	201241641	SO:0001583	missense	316	exon33			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3668C>A	2.37:g.201533396C>A	ENSP00000363832:p.Ser1223Tyr		201241641	NM_001159	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753275	0.69648	.	.	ENSG00000138356	ENST00000374700;ENST00000439380	T;T	0.46819	0.86;1.08	5.1	4.2	0.49525	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.054324	0.85682	D	0.000000	T	0.74688	0.3749	M	0.93678	3.445	0.80722	D	1	D	0.54964	0.969	D	0.64042	0.921	T	0.83117	-0.0120	10	0.87932	D	0	-27.9585	15.5026	0.75713	0.0:0.8611:0.1389:0.0	.	1223	Q06278	ADO_HUMAN	Y	1223;63	ENSP00000363832:S1223Y;ENSP00000413326:S63Y	ENSP00000363832:S1223Y	S	+	2	0	AOX1	201241641	1.000000	0.71417	0.987000	0.45799	0.774000	0.43823	5.514000	0.67043	1.350000	0.45770	0.563000	0.77884	TCT		0.433	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
CLK1	1195	broad.mit.edu	37	2	201722697	201722697	+	Splice_Site	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201722697A>C	ENST00000321356.4	-	6	799	c.664T>G	c.(664-666)Ttc>Gtc	p.F222V	CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000434813.2_Splice_Site_p.F264V|CLK1_ENST00000409769.2_Splice_Site_p.F45V	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.F222V(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GATACTTACAAAGTACTGTTG	0.368																																					p.F264V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T790G	2						.						140.0	141.0	141.0					2																	201722697		2203	4300	6503	201430942	SO:0001630	splice_region_variant	1195	exon6			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.665+1T>G	2.37:g.201722697A>C			201430942	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207693	0.58343	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.19394	2.15;2.15;2.15	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.163089	0.56097	D	0.000030	T	0.23451	0.0567	L	0.31526	0.94	0.49299	D	0.999771	P;P;P;P	0.40515	0.719;0.719;0.719;0.555	P;P;P;B	0.48598	0.583;0.479;0.583;0.364	T	0.01909	-1.1249	10	0.49607	T	0.09	.	10.8883	0.46981	0.9241:0.0:0.0759:0.0	.	264;192;222;45	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	V	222;192;45;264	ENSP00000326830:F222V;ENSP00000386358:F45V;ENSP00000394734:F264V	ENSP00000326830:F222V	F	-	1	0	CLK1	201430942	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.303000	0.65738	2.178000	0.69098	0.460000	0.39030	TTC		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		Missense_Mutation
FAM126B	285172	broad.mit.edu	37	2	201857057	201857057	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:201857057G>T	ENST00000418596.3	-	10	965	c.778C>A	c.(778-780)Ctt>Att	p.L260I	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	260						intracellular (GO:0005622)		p.L260I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATATCATCAAGAACTTCCTGG	0.328																																					p.L260I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778A	2						.						88.0	98.0	94.0					2																	201857057		2203	4300	6503	201565302	SO:0001583	missense	285172	exon10			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.778C>A	2.37:g.201857057G>T	ENSP00000393667:p.Leu260Ile		201565302	NM_173822	B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936880	0.73557	.	.	ENSG00000155744	ENST00000418596	T	0.78924	-1.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.75447	2.3	0.80722	D	1	P;D	0.71674	0.899;0.998	P;D	0.67725	0.639;0.953	T	0.81553	-0.0880	10	0.22706	T	0.39	-10.0643	9.8945	0.41309	0.1564:0.0:0.8436:0.0	.	66;260	B3KUG1;Q8IXS8	.;F126B_HUMAN	I	260	ENSP00000393667:L260I	ENSP00000393667:L260I	L	-	1	0	FAM126B	201565302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.236000	0.51336	2.653000	0.90120	0.561000	0.74099	CTT		0.328	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
CFLAR	8837	broad.mit.edu	37	2	202010147	202010147	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202010147G>A	ENST00000309955.3	+	6	1168	c.653G>A	c.(652-654)gGc>gAc	p.G218D	CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000355558.4_Missense_Mutation_p.G218D|CFLAR_ENST00000457277.1_Missense_Mutation_p.G218D|CFLAR_ENST00000342795.5_Missense_Mutation_p.G218D|CFLAR-AS1_ENST00000594911.1_RNA|CFLAR_ENST00000443227.1_Missense_Mutation_p.G122D|CFLAR_ENST00000423241.2_Missense_Mutation_p.G218D|CFLAR_ENST00000341582.6_Intron|CFLAR-AS1_ENST00000474886.2_RNA|CFLAR-AS1_ENST00000598453.1_RNA|CFLAR_ENST00000340870.5_Missense_Mutation_p.G218D|CFLAR_ENST00000479953.2_Missense_Mutation_p.G122D	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	218	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)	p.G218D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAACAGCTTGGCGCTCAACGT	0.318																																					p.G218D	Pancreas(16;548 657 22190 32864 42338)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653A	2						.						123.0	132.0	129.0					2																	202010147		2203	4299	6502	201718392	SO:0001583	missense	8837	exon6			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.653G>A	2.37:g.202010147G>A	ENSP00000312455:p.Gly218Asp		201718392	NM_001127183	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253004	0.01457	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000355558;ENST00000340870;ENST00000342795;ENST00000423241;ENST00000457277	T;T;T;T;T;T;T	0.40756	3.8;3.79;1.02;3.67;1.04;3.8;3.67	5.27	2.19	0.27852	.	1.499790	0.03510	N	0.219430	T	0.14485	0.0350	N	0.00690	-1.25	0.09310	N	0.999993	B;B;B;B;B	0.11235	0.004;0.003;0.002;0.001;0.002	B;B;B;B;B	0.11329	0.006;0.002;0.003;0.001;0.004	T	0.20009	-1.0288	10	0.16896	T	0.51	-1.909	3.8249	0.08851	0.2514:0.2044:0.5442:0.0	.	122;218;218;218;218	O15519-3;C9JK38;O15519-11;O15519;O15519-12	.;.;.;CFLAR_HUMAN;.	D	218;122;218;218;218;218;218	ENSP00000312455:G218D;ENSP00000413270:G122D;ENSP00000347757:G218D;ENSP00000339326:G218D;ENSP00000342809:G218D;ENSP00000399420:G218D;ENSP00000411535:G218D	ENSP00000312455:G218D	G	+	2	0	CFLAR	201718392	0.002000	0.14202	0.446000	0.26920	0.086000	0.17979	-0.057000	0.11768	0.115000	0.18071	0.655000	0.94253	GGC		0.318	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879	
CASP10	843	broad.mit.edu	37	2	202073854	202073854	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202073854G>A	ENST00000272879.5	+	9	1168	c.984G>A	c.(982-984)acG>acA	p.T328T	CASP10_ENST00000313728.7_Silent_p.T261T|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Silent_p.T285T|CASP10_ENST00000448480.1_Silent_p.T285T|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000286186.6_Silent_p.T328T	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	328					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.T328T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATAATGTGACGAAAGTGGAAA	0.443																																					p.T328T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G984A	2						.						127.0	124.0	125.0					2																	202073854		2203	4300	6503	201782099	SO:0001819	synonymous_variant	843	exon9			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.984G>A	2.37:g.202073854G>A			201782099	NM_032974	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	ENST00000272879.5	37	CCDS2338.1																																																																																				0.443	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977	
ALS2CR12	130540	broad.mit.edu	37	2	202172323	202172323	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202172323G>A	ENST00000286190.5	-	10	844	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000405148.2_Silent_p.F266F|ALS2CR12_ENST00000448967.1_5'Flank|ALS2CR12_ENST00000439709.1_Silent_p.F266F|ALS2CR12_ENST00000392257.3_Silent_p.F266F			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383																																					p.F266F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	2						.						156.0	159.0	158.0					2																	202172323		2203	4298	6501	201880568	SO:0001819	synonymous_variant	130540	exon11			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.798C>T	2.37:g.202172323G>A			201880568	NM_001127391	G5E9S3|Q53TT6|Q8N1B6	Silent	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867740	0.02590	.	.	ENSG00000155749	ENST00000415745	.	.	.	5.53	-0.054	0.13816	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35919	-0.9769	4	.	.	.	-8.4115	5.6157	0.17430	0.6368:0.1427:0.2205:0.0	.	.	.	.	L	41	.	.	S	-	2	0	ALS2CR12	201880568	0.992000	0.36948	0.993000	0.49108	0.026000	0.11368	0.295000	0.19065	-0.114000	0.11936	-0.300000	0.09419	TCG		0.383	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
TRAK2	66008	broad.mit.edu	37	2	202252470	202252470	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202252470C>T	ENST00000332624.3	-	13	2080	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	551					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R551Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATAAAACCTCGAAGGCAACT	0.483																																					p.R551Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652A	2						.						92.0	97.0	96.0					2																	202252470		2203	4300	6503	201960715	SO:0001583	missense	66008	exon13			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1652G>A	2.37:g.202252470C>T	ENSP00000328875:p.Arg551Gln		201960715	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059891	0.93846	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.46819	0.86	5.63	5.63	0.86233	Trafficking kinesin-binding protein domain (1);	0.079231	0.51477	D	0.000086	T	0.63450	0.2512	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.61441	-0.7062	10	0.49607	T	0.09	.	19.6777	0.95943	0.0:1.0:0.0:0.0	.	551	O60296	TRAK2_HUMAN	Q	551;457	ENSP00000328875:R551Q	ENSP00000328875:R551Q	R	-	2	0	TRAK2	201960715	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.408000	0.66368	2.669000	0.90835	0.650000	0.86243	CGA		0.483	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
STRADB	55437	broad.mit.edu	37	2	202343319	202343319	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202343319G>T	ENST00000194530.3	+	10	1430	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	STRADB_ENST00000392249.2_Missense_Mutation_p.E355D	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E355D(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGATCCTGAGAAAAGGTAAT	0.358																																					p.E355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1065T	2						.						49.0	45.0	46.0					2																	202343319		2203	4300	6503	202051564	SO:0001583	missense	55437	exon10			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1065G>T	2.37:g.202343319G>T	ENSP00000194530:p.Glu355Asp		202051564	NM_018571	Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	CCDS2348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.849048|2.849048	0.51270|0.51270	.|.	.|.	ENSG00000082146|ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866|ENST00000415688	T;T|.	0.66638|.	-0.22;-0.22|.	5.83|5.83	3.72|3.72	0.42706|0.42706	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.54078|.	0.1836|.	L|L	0.28649|0.28649	0.875|0.875	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.56746|.	0.977|.	P|.	0.59546|.	0.859|.	T|.	0.57974|.	-0.7718|.	10|.	0.09338|0.56958	T|D	0.73|0.05	.|.	11.9626|11.9626	0.53017|0.53017	0.2082:0.0:0.7918:0.0|0.2082:0.0:0.7918:0.0	.|.	355|.	Q9C0K7|.	STRAB_HUMAN|.	D|X	355;355;355;217|26	ENSP00000194530:E355D;ENSP00000376080:E355D|.	ENSP00000194530:E355D|ENSP00000413574:E26X	E|E	+|+	3|1	2|0	STRADB|STRADB	202051564|202051564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.847000|2.847000	0.48270|0.48270	1.473000|1.473000	0.48159|0.48159	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.358	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	
ALS2CR11	151254	broad.mit.edu	37	2	202352460	202352460	+	Nonsense_Mutation	SNP	C	C	A	rs567676487		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202352460C>A	ENST00000286195.3	-	15	1791	c.1747G>T	c.(1747-1749)Gaa>Taa	p.E583*	ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.E1780*|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	583								p.E583*(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTGTAGCTTTCTCGTTGCTTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18547	0.0		0.0	False		,,,				2504	0.0				p.E583X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1747T	2						.						343.0	328.0	333.0					2																	202352460		2203	4300	6503	202060705	SO:0001587	stop_gained	151254	exon15			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1747G>T	2.37:g.202352460C>A	ENSP00000286195:p.Glu583*		202060705	NM_152525	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	37	6.280240	0.97440	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	.	.	.	4.85	1.81	0.25067	.	0.552015	0.15170	N	0.276713	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9145	0.09217	0.0:0.5475:0.2238:0.2288	.	.	.	.	X	583;1780	.	ENSP00000286195:E583X	E	-	1	0	ALS2CR11	202060705	0.011000	0.17503	0.008000	0.14137	0.010000	0.07245	0.225000	0.17757	0.623000	0.30267	0.650000	0.86243	GAA		0.393	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
ALS2CR11	151254	broad.mit.edu	37	2	202436740	202436740	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202436740T>G	ENST00000286195.3	-	8	801	c.757A>C	c.(757-759)Aaa>Caa	p.K253Q	ALS2CR11_ENST00000450242.1_Missense_Mutation_p.K253Q|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.K253Q|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.K253Q	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	253								p.K253Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGAAGAGGTTTTAACTGAAAA	0.323																																					p.K253Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A757C	2						.						96.0	94.0	95.0					2																	202436740		2203	4300	6503	202144985	SO:0001583	missense	151254	exon8			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.757A>C	2.37:g.202436740T>G	ENSP00000286195:p.Lys253Gln		202144985	NM_152525	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193315	0.38707	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.49	4.29	0.51040	.	0.500285	0.19903	N	0.103465	T	0.58750	0.2144	M	0.63843	1.955	0.30305	N	0.789048	P;D;D	0.89917	0.94;0.991;1.0	P;D;D	0.80764	0.61;0.981;0.994	T	0.59757	-0.7394	10	0.56958	D	0.05	.	10.2845	0.43558	0.0:0.0:0.166:0.834	.	253;253;253	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	Q	253	ENSP00000286195:K253Q;ENSP00000400672:K253Q;ENSP00000409937:K253Q;ENSP00000399016:K253Q	ENSP00000286195:K253Q	K	-	1	0	ALS2CR11	202144985	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	2.457000	0.45005	0.866000	0.35629	0.482000	0.46254	AAA		0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
ALS2CR11	151254	broad.mit.edu	37	2	202466489	202466489	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202466489G>A	ENST00000286195.3	-	4	533	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ALS2CR11_ENST00000450242.1_Silent_p.F163F|ALS2CR11_ENST00000439140.1_Silent_p.F163F|ALS2CR11_ENST00000439802.1_Silent_p.F163F	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	163								p.F163F(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCACTTCATCGAACTTAATTA	0.313																																					p.F163F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C489T	2						.						109.0	102.0	104.0					2																	202466489		2201	4290	6491	202174734	SO:0001819	synonymous_variant	151254	exon4			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.489C>T	2.37:g.202466489G>A			202174734	NM_152525	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	CCDS2349.1																																																																																				0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525	
TMEM237	65062	broad.mit.edu	37	2	202494570	202494570	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202494570A>C	ENST00000409883.2	-	8	675	c.559T>G	c.(559-561)Ttc>Gtc	p.F187V	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409444.2_Missense_Mutation_p.F179V	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	187					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F187V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						GCAGCCTGGAATCTCCCTAAG	0.428																																					p.F187V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T559G	2						.						98.0	96.0	97.0					2																	202494570		1899	4113	6012	202202815	SO:0001583	missense	65062	exon7			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.559T>G	2.37:g.202494570A>C	ENSP00000386264:p.Phe187Val		202202815	NM_001044385	B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.844155	0.91197	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.77	5.77	0.91146	.	0.043101	0.85682	D	0.000000	T	0.79335	0.4428	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81127	-0.1074	9	0.62326	D	0.03	-16.8574	16.3948	0.83586	1.0:0.0:0.0:0.0	.	187;211	E9PAR8;Q96Q45	.;TM237_HUMAN	V	179;187;187;209;92	.	ENSP00000386949:F92V	F	-	1	0	TMEM237	202202815	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.446000	0.90329	2.326000	0.78906	0.533000	0.62120	TTC		0.428	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388	
MPP4	58538	broad.mit.edu	37	2	202514799	202514799	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202514799G>T	ENST00000409474.3	-	19	1678	c.1471C>A	c.(1471-1473)Cac>Aac	p.H491N	MPP4_ENST00000359962.5_Missense_Mutation_p.H491N|MPP4_ENST00000428900.2_Missense_Mutation_p.H467N|MPP4_ENST00000315506.7_Missense_Mutation_p.H447N|MPP4_ENST00000409143.1_Missense_Mutation_p.H433N|MPP4_ENST00000396886.3_Missense_Mutation_p.H416N|MPP4_ENST00000447335.2_Missense_Mutation_p.H484N	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	491	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.H491N(1)		kidney(1)|lung(11)	12						CTTTACCTGTGACTATATATG	0.343																																					p.H491N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1471A	2						.						100.0	88.0	92.0					2																	202514799		1829	4079	5908	202223044	SO:0001583	missense	58538	exon19			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1471C>A	2.37:g.202514799G>T	ENSP00000387278:p.His491Asn		202223044	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	G	6.616	0.482063	0.12581	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.165624	0.52532	D	0.000066	T	0.11281	0.0275	N	0.25245	0.725	0.54753	D	0.999988	B;B;P;P;P;P;P;P	0.38863	0.423;0.015;0.65;0.65;0.598;0.504;0.65;0.46	B;B;B;B;B;B;B;B	0.40782	0.138;0.048;0.34;0.34;0.23;0.34;0.34;0.209	T	0.02294	-1.1181	10	0.02654	T	1	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	433;416;467;460;447;484;491;456	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	N	491;447;416;491;456;420;467;433;484	ENSP00000387278:H491N;ENSP00000319363:H447N;ENSP00000353047:H491N;ENSP00000416781:H467N;ENSP00000387293:H433N;ENSP00000406160:H484N	ENSP00000319363:H447N	H	-	1	0	MPP4	202223044	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	3.345000	0.52182	2.793000	0.96121	0.561000	0.74099	CAC		0.343	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
MPP4	58538	broad.mit.edu	37	2	202550672	202550672	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202550672A>G	ENST00000409474.3	-	6	669	c.462T>C	c.(460-462)atT>atC	p.I154I	MPP4_ENST00000359962.5_Silent_p.I154I|MPP4_ENST00000428900.2_Silent_p.I154I|MPP4_ENST00000315506.7_Silent_p.I154I|MPP4_ENST00000409143.1_Silent_p.I127I|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000447335.2_Silent_p.I154I	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)		p.I154I(1)		kidney(1)|lung(11)	12						CTAAACAAACAATCCTCATTG	0.413																																					p.I154I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T462C	2						.						127.0	120.0	123.0					2																	202550672		1880	4104	5984	202258917	SO:0001819	synonymous_variant	58538	exon6			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.462T>C	2.37:g.202550672A>G			202258917	NM_033066	C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Silent	SNP	ENST00000409474.3	37	CCDS46491.1																																																																																				0.413	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2		
SDC1	6382	broad.mit.edu	37	2	20405120	20405120	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20405120G>T	ENST00000254351.4	-	2	376	c.132C>A	c.(130-132)ttC>ttA	p.F44L	SDC1_ENST00000403076.1_Missense_Mutation_p.F44L|SDC1_ENST00000381150.1_Missense_Mutation_p.F44L|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	44					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.F44L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTGAGCCGGAGAAGTTGTCAG	0.537																																					p.F44L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C132A	2						.						90.0	92.0	91.0					2																	20405120		2203	4300	6503	20268601	SO:0001583	missense	6382	exon2			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.132C>A	2.37:g.20405120G>T	ENSP00000254351:p.Phe44Leu		20268601	NM_002997	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179798	0.57800	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.63913	1.98;1.98;-0.0;-0.07	4.46	1.63	0.23807	.	0.000000	0.56097	D	0.000034	T	0.74344	0.3704	M	0.73598	2.24	0.37142	D	0.901773	D;P	0.71674	0.998;0.934	D;P	0.83275	0.996;0.856	T	0.76080	-0.3090	10	0.87932	D	0	-20.8761	8.4761	0.33014	0.2726:0.0:0.7274:0.0	.	44;44	E9PHH3;P18827	.;SDC1_HUMAN	L	44;44;44;52	ENSP00000254351:F44L;ENSP00000370542:F44L;ENSP00000384613:F44L;ENSP00000400773:F52L	ENSP00000254351:F44L	F	-	3	2	SDC1	20268601	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	1.417000	0.34770	0.210000	0.20664	0.462000	0.41574	TTC		0.537	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946	
ALS2	57679	broad.mit.edu	37	2	202589025	202589025	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:202589025T>C	ENST00000264276.6	-	21	3877	c.3505A>G	c.(3505-3507)Atc>Gtc	p.I1169V	ALS2_ENST00000457679.2_Missense_Mutation_p.I481V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1169					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.I1169V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TACCTAGTGATATCATCAAAG	0.373																																					p.I1169V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3505G	2						.						113.0	103.0	106.0					2																	202589025		1902	4118	6020	202297270	SO:0001583	missense	57679	exon21			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3505A>G	2.37:g.202589025T>C	ENSP00000264276:p.Ile1169Val		202297270	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794810	0.90453	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.41065	1.01;1.01	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	N	0.25426	0.745	0.80722	D	1	D;B	0.76494	0.999;0.402	D;B	0.66084	0.941;0.258	T	0.51301	-0.8723	10	0.48119	T	0.1	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1169;1169	Q6IQ41;Q96Q42	.;ALS2_HUMAN	V	1169;481	ENSP00000264276:I1169V;ENSP00000394823:I481V	ENSP00000264276:I1169V	I	-	1	0	ALS2	202297270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.841000	0.86834	2.263000	0.75096	0.533000	0.62120	ATC		0.373	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
BMPR2	659	broad.mit.edu	37	2	203379664	203379664	+	Missense_Mutation	SNP	G	G	A	rs397514497		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:203379664G>A	ENST00000374580.4	+	5	1122	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	BMPR2_ENST00000374574.2_Missense_Mutation_p.E195K	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	195					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E195K(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGCAGCATCCGAACCCTCTCT	0.398																																					p.E195K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G583A	2	GRCh37	CM085278	BMPR2	M		.						187.0	162.0	170.0					2																	203379664		2203	4300	6503	203087909	SO:0001583	missense	659	exon5			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.583G>A	2.37:g.203379664G>A	ENSP00000363708:p.Glu195Lys		203087909	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611801	0.87258	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.93659	-3.26;-3.26	5.92	5.92	0.95590	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.985;0.994	P;P	0.47251	0.466;0.542	D	0.90167	0.4232	10	0.35671	T	0.21	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	195;195	Q13161;Q13873	.;BMPR2_HUMAN	K	195	ENSP00000363708:E195K;ENSP00000363702:E195K	ENSP00000363702:E195K	E	+	1	0	BMPR2	203087909	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.123000	0.94387	2.794000	0.96219	0.650000	0.86243	GAA		0.398	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
BMPR2	659	broad.mit.edu	37	2	203420765	203420765	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:203420765A>G	ENST00000374580.4	+	12	2916	c.2377A>G	c.(2377-2379)Aca>Gca	p.T793A	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	793					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T793A(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAAGATGAATACAATCAATGC	0.438																																					p.T793A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2377G	2						.						87.0	82.0	84.0					2																	203420765		2203	4300	6503	203129010	SO:0001583	missense	659	exon12			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2377A>G	2.37:g.203420765A>G	ENSP00000363708:p.Thr793Ala		203129010	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.038384	0.35989	.	.	ENSG00000204217	ENST00000374580	D	0.90324	-2.65	5.73	5.73	0.89815	.	0.096988	0.64402	D	0.000001	D	0.85274	0.5659	L	0.27053	0.805	0.80722	D	1	B	0.28512	0.214	B	0.24269	0.052	D	0.83726	0.0195	10	0.62326	D	0.03	.	16.0329	0.80593	1.0:0.0:0.0:0.0	.	793	Q13873	BMPR2_HUMAN	A	793	ENSP00000363708:T793A	ENSP00000363708:T793A	T	+	1	0	BMPR2	203129010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.905000	0.75714	2.197000	0.70478	0.533000	0.62120	ACA		0.438	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
PUM2	23369	broad.mit.edu	37	2	20453751	20453751	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20453751A>G	ENST00000361078.2	-	19	2923	c.2901T>C	c.(2899-2901)acT>acC	p.T967T	PUM2_ENST00000403432.1_Silent_p.T965T|PUM2_ENST00000536417.1_Silent_p.T909T|PUM2_ENST00000338086.5_Silent_p.T965T|PUM2_ENST00000319801.5_Silent_p.T888T			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	967	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.T965T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGCATGAGTAACACACT	0.378																																					p.T965T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2895C	2						.						122.0	109.0	114.0					2																	20453751		2203	4300	6503	20317232	SO:0001819	synonymous_variant	23369	exon19			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2901T>C	2.37:g.20453751A>G			20317232	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37																																																																																					0.378	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
BMPR2	659	broad.mit.edu	37	2	203421207	203421207	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:203421207C>A	ENST00000374580.4	+	12	3358	c.2819C>A	c.(2818-2820)tCt>tAt	p.S940Y	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	940					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S940Y(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGGCCTAATTCTCTGGATCTT	0.473																																					p.S940Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2819A	2						.						79.0	85.0	83.0					2																	203421207		2203	4300	6503	203129452	SO:0001583	missense	659	exon12			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2819C>A	2.37:g.203421207C>A	ENSP00000363708:p.Ser940Tyr		203129452	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114199	0.77210	.	.	ENSG00000204217	ENST00000374580	D	0.92699	-3.09	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94332	0.7563	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	940	Q13873	BMPR2_HUMAN	Y	940	ENSP00000363708:S940Y	ENSP00000363708:S940Y	S	+	2	0	BMPR2	203129452	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.869000	0.75521	2.941000	0.99782	0.655000	0.94253	TCT		0.473	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
ICA1L	130026	broad.mit.edu	37	2	203682156	203682156	+	Silent	SNP	C	C	T	rs144844508		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:203682156C>T	ENST00000392237.2	-	7	826	c.669G>A	c.(667-669)tcG>tcA	p.S223S	ICA1L_ENST00000358299.2_Silent_p.S223S	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	223	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.							p.S223S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTAGTGAGCGAATGAGATA	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16360	0.0		0.0	False		,,,				2504	0.0				p.S223S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G669A	2						.	C		2,4404	4.2+/-10.8	0,2,2201	125.0	115.0	118.0		669	-11.9	0.1	2	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	ICA1L	NM_138468.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		223/483	203682156	2,13004	2203	4300	6503	203390401	SO:0001819	synonymous_variant	130026	exon7			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.669G>A	2.37:g.203682156C>T			203390401	NM_138468	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Silent	SNP	ENST00000392237.2	37	CCDS2354.1																																																																																				0.393	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
PUM2	23369	broad.mit.edu	37	2	20490475	20490475	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20490475G>A	ENST00000361078.2	-	9	1251	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	PUM2_ENST00000403432.1_Missense_Mutation_p.A410V|PUM2_ENST00000536417.1_Missense_Mutation_p.A354V|PUM2_ENST00000338086.5_Missense_Mutation_p.A410V|PUM2_ENST00000319801.5_Missense_Mutation_p.A410V			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	410	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.A410V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCTGCCGCAAGTGATTC	0.468																																					p.A410V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1229T	2						.						61.0	58.0	59.0					2																	20490475		2203	4300	6503	20353956	SO:0001583	missense	23369	exon9			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1229C>T	2.37:g.20490475G>A	ENSP00000354370:p.Ala410Val		20353956	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	G	7.551	0.662800	0.14645	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.19394	2.19;2.39;2.47;2.15;2.19;2.19	5.02	5.02	0.67125	.	0.157934	0.40554	U	0.001077	T	0.16300	0.0392	N	0.19112	0.55	0.53688	D	0.999974	B;B;B	0.15473	0.002;0.005;0.013	B;B;B	0.11329	0.004;0.001;0.006	T	0.05937	-1.0855	10	0.25106	T	0.35	-8.7157	18.703	0.91627	0.0:0.0:1.0:0.0	.	354;410;410	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	V	410;410;410;301;410;354	ENSP00000338173:A410V;ENSP00000354370:A410V;ENSP00000326746:A410V;ENSP00000409905:A301V;ENSP00000385992:A410V;ENSP00000440093:A354V	ENSP00000326746:A410V	A	-	2	0	PUM2	20353956	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.193000	0.65120	2.499000	0.84300	0.591000	0.81541	GCG		0.468	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
PUM2	23369	broad.mit.edu	37	2	20508242	20508242	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20508242C>A	ENST00000361078.2	-	5	644	c.622G>T	c.(622-624)Gct>Tct	p.A208S	PUM2_ENST00000403432.1_Missense_Mutation_p.A208S|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_Missense_Mutation_p.A152S|PUM2_ENST00000338086.5_Missense_Mutation_p.A208S|PUM2_ENST00000319801.5_Missense_Mutation_p.A208S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	208	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.A208S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTTATTAGCTGTAGGATTA	0.458																																					p.A208S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G622T	2						.						75.0	78.0	77.0					2																	20508242		2203	4300	6503	20371723	SO:0001583	missense	23369	exon5			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.622G>T	2.37:g.20508242C>A	ENSP00000354370:p.Ala208Ser		20371723	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	C	13.38	2.219705	0.39201	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.17691	2.28;2.54;2.53;2.26;2.28;2.28	6.07	2.04	0.26737	.	0.541209	0.22812	N	0.055327	T	0.06005	0.0156	N	0.03608	-0.345	0.28293	N	0.923471	B;B;B	0.13594	0.0;0.008;0.002	B;B;B	0.14023	0.001;0.01;0.002	T	0.34378	-0.9831	10	0.22109	T	0.4	-0.0334	5.2574	0.15553	0.126:0.523:0.0:0.351	.	152;208;208	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	S	208;208;208;99;208;152;208	ENSP00000338173:A208S;ENSP00000354370:A208S;ENSP00000326746:A208S;ENSP00000409905:A99S;ENSP00000385992:A208S;ENSP00000440093:A152S	ENSP00000326746:A208S	A	-	1	0	PUM2	20371723	0.965000	0.33210	0.997000	0.53966	0.995000	0.86356	0.241000	0.18065	0.085000	0.17107	-0.145000	0.13849	GCT		0.458	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
ICA1L	130026	broad.mit.edu	37	2	203682219	203682219	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:203682219C>A	ENST00000392237.2	-	7	763	c.606G>T	c.(604-606)aaG>aaT	p.K202N	ICA1L_ENST00000358299.2_Missense_Mutation_p.K202N	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	202	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.							p.K202N(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACATCCATCTTTAACTTGT	0.368																																					p.K202N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G606T	2						.						113.0	100.0	105.0					2																	203682219		2203	4300	6503	203390464	SO:0001583	missense	130026	exon7			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.606G>T	2.37:g.203682219C>A	ENSP00000376070:p.Lys202Asn		203390464	NM_138468	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242976	0.79912	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	T;T	0.80653	-1.4;-1.4	5.96	5.09	0.68999	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.89649	0.6776	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90902	0.4769	10	0.87932	D	0	.	12.8176	0.57675	0.0:0.9213:0.0:0.0787	.	202	Q8NDH6	ICA1L_HUMAN	N	202	ENSP00000376070:K202N;ENSP00000351047:K202N	ENSP00000351047:K202N	K	-	3	2	ICA1L	203390464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.162000	0.58177	1.527000	0.49086	0.655000	0.94253	AAG		0.368	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
PUM2	23369	broad.mit.edu	37	2	20527119	20527119	+	Start_Codon_SNP	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20527119C>A	ENST00000361078.2	-	1	25	c.3G>T	c.(1-3)atG>atT	p.M1I	PUM2_ENST00000403432.1_Start_Codon_SNP_p.M1I|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000536417.1_5'UTR|PUM2_ENST00000338086.5_Start_Codon_SNP_p.M1I|PUM2_ENST00000319801.5_Start_Codon_SNP_p.M1I			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	1	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCATGATTCATTTCATCCA	0.308																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	2						.						96.0	93.0	94.0					2																	20527119		2203	4299	6502	20390600	SO:0001582	initiator_codon_variant	23369	exon1			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.3G>T	2.37:g.20527119C>A	ENSP00000354370:p.Met1Ile		20390600	NM_015317	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37		.	.	.	.	.	.	.	.	.	.	C	15.16	2.750641	0.49257	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000403432;ENST00000442400;ENST00000424110	T;T;T;T	0.18810	2.19;2.41;2.39;2.19	5.58	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.21468	0.0517	.	.	.	0.80722	D	1	B;B	0.25667	0.131;0.099	B;B	0.26202	0.026;0.067	T	0.02868	-1.1100	9	0.66056	D	0.02	-6.8682	14.2972	0.66321	0.0:0.9287:0.0:0.0713	.	1;1	B7ZL34;Q8TB72-3	.;.	I	1	ENSP00000338173:M1I;ENSP00000354370:M1I;ENSP00000326746:M1I;ENSP00000385992:M1I	ENSP00000326746:M1I	M	-	3	0	PUM2	20390600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.469000	0.60169	1.339000	0.45563	0.655000	0.94253	ATG		0.308	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	Missense_Mutation
NBEAL1	65065	broad.mit.edu	37	2	204074005	204074005	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:204074005T>C	ENST00000449802.1	+	52	7991	c.7658T>C	c.(7657-7659)aTt>aCt	p.I2553T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2553								p.I2553T(1)|p.I1263T(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGGACATATTGTTGTCTAC	0.438																																					p.I2553T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T7658C	2						.						133.0	124.0	127.0					2																	204074005		1906	4126	6032	203782250	SO:0001583	missense	65065	exon52			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7658T>C	2.37:g.204074005T>C	ENSP00000399903:p.Ile2553Thr		203782250	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615954	0.46631	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.28895	5.0;1.59	5.26	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.166570	0.52532	N	0.000065	T	0.37544	0.1007	M	0.81112	2.525	0.42602	D	0.993289	B;B;B	0.20368	0.044;0.005;0.002	B;B;B	0.29862	0.108;0.004;0.003	T	0.24584	-1.0156	10	0.52906	T	0.07	.	8.6282	0.33904	0.0:0.1579:0.0:0.8421	.	1263;2553;2542	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	T	2553;2463;568	ENSP00000399903:I2553T;ENSP00000388466:I568T	ENSP00000344985:I2463T	I	+	2	0	NBEAL1	203782250	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.495000	0.60353	0.854000	0.35336	0.377000	0.23210	ATT		0.438	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
ABI2	10152	broad.mit.edu	37	2	204245081	204245081	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:204245081C>A	ENST00000422511.2	+	3	467	c.436C>A	c.(436-438)Cta>Ata	p.L146I	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.L146I|ABI2_ENST00000430418.1_Missense_Mutation_p.L146I|ABI2_ENST00000261016.6_Missense_Mutation_p.L101I|ABI2_ENST00000261018.7_5'Flank|ABI2_ENST00000261017.5_Missense_Mutation_p.L146I|ABI2_ENST00000295851.5_Missense_Mutation_p.L146I			Q9NYB9	ABI2_HUMAN	abl-interactor 2	146					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.L146I(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CTATACAATTCTAGATGATAT	0.323																																					p.L146I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436A	2						.						84.0	89.0	87.0					2																	204245081		2203	4298	6501	203953326	SO:0001583	missense	10152	exon3			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.436C>A	2.37:g.204245081C>A	ENSP00000396249:p.Leu146Ile		203953326	NM_005759	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985819|3.985819	0.74589|0.74589	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000451591|ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	.|D;D;D;D;T;D;D	.|0.92199	.|-2.96;-2.99;-2.99;-2.99;-0.91;-2.96;-2.96	5.54|5.54	1.09|1.09	0.20402|0.20402	.|Abl-interactor, homeo-domain homologous domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95169|0.95169	0.8434|0.8434	M|M	0.82193|0.82193	2.58|2.58	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.76494	.|0.999;0.975;0.998;0.98;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.981;0.99;0.989;0.999	D|D	0.93943|0.93943	0.7225|0.7225	5|10	.|0.87932	.|D	.|0	-10.9226|-10.9226	9.8515|9.8515	0.41059|0.41059	0.0:0.5678:0.0:0.4322|0.0:0.5678:0.0:0.4322	.|.	.|90;146;101;146;146	.|B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.|.;.;.;ABI2_HUMAN;.	L|I	17|146;146;146;146;101;146;146	.|ENSP00000295851:L146I;ENSP00000261017:L146I;ENSP00000408898:L146I;ENSP00000391433:L146I;ENSP00000261016:L101I;ENSP00000414703:L146I;ENSP00000396249:L146I	.|ENSP00000261016:L101I	F|L	+|+	3|1	2|2	ABI2|ABI2	203953326|203953326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.005000|1.005000	0.29834|0.29834	0.289000|0.289000	0.22422|0.22422	0.591000|0.591000	0.81541|0.81541	TTC|CTA		0.323	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759	
RAPH1	65059	broad.mit.edu	37	2	204354694	204354694	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:204354694C>T	ENST00000319170.5	-	4	644	c.345G>A	c.(343-345)acG>acA	p.T115T	RAPH1_ENST00000453034.1_Silent_p.T115T|RAPH1_ENST00000423104.1_Silent_p.T115T|RAPH1_ENST00000418114.1_Silent_p.T115T|RAPH1_ENST00000439222.1_Silent_p.T115T|RAPH1_ENST00000457812.1_Silent_p.T115T|RAPH1_ENST00000374488.2_Silent_p.T115T|RAPH1_ENST00000374489.2_Silent_p.T115T|RAPH1_ENST00000419464.1_Silent_p.T115T|RAPH1_ENST00000374493.3_Silent_p.T115T|RAPH1_ENST00000308091.4_Silent_p.T115T	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	115					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.T115T(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGTAGCTTTCGTTTCTGTGA	0.433																																					p.T115T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G345A	2						.						235.0	227.0	230.0					2																	204354694		2203	4300	6503	204062939	SO:0001819	synonymous_variant	65059	exon4			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.345G>A	2.37:g.204354694C>T			204062939	NM_203365	Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.433	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
CD28	940	broad.mit.edu	37	2	204599612	204599612	+	Missense_Mutation	SNP	G	G	A	rs201909740		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:204599612G>A	ENST00000324106.8	+	4	789	c.640G>A	c.(640-642)Gac>Aac	p.D214N	CD28_ENST00000374478.4_Missense_Mutation_p.D95N|CD28_ENST00000374481.3_Missense_Mutation_p.D130N|CD28_ENST00000458610.2_Missense_Mutation_p.D228N	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	214					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.D214N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CCCACCACGCGACTTCGCAGC	0.612																																					p.D214N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	2						.						58.0	63.0	61.0					2																	204599612		2203	4300	6503	204307857	SO:0001583	missense	940	exon4			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.640G>A	2.37:g.204599612G>A	ENSP00000324890:p.Asp214Asn		204307857	NM_006139	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144970	0.77888	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	D	0.90103	0.6908	M	0.80982	2.52	0.44789	D	0.997792	D;D	0.89917	1.0;0.994	D;P	0.91635	0.999;0.586	D	0.89561	0.3806	10	0.44086	T	0.13	-52.5152	11.3728	0.49711	0.0854:0.0:0.9146:0.0	.	95;214	P10747-2;P10747	.;CD28_HUMAN	N	130;228;214;95	ENSP00000363605:D130N;ENSP00000393648:D228N;ENSP00000324890:D214N;ENSP00000363602:D95N	ENSP00000324890:D214N	D	+	1	0	CD28	204307857	0.999000	0.42202	0.952000	0.39060	0.563000	0.35712	3.319000	0.51983	2.555000	0.86185	0.655000	0.94253	GAC		0.612	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139	
CTLA4	1493	broad.mit.edu	37	2	204737436	204737436	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:204737436G>T	ENST00000302823.3	+	4	730	c.573G>T	c.(571-573)aaG>aaT	p.K191N	CTLA4_ENST00000472206.1_Nonsense_Mutation_p.E60*|CTLA4_ENST00000427473.2_Nonsense_Mutation_p.E118*|CTLA4_ENST00000295854.6_Nonsense_Mutation_p.E155*|CTLA4_ENST00000487393.1_3'UTR	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	191					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.K191N(1)		large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	GACAGCTAAAGAAAAGAAGCC	0.398																																					p.E155X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463T	2						.						86.0	85.0	85.0					2																	204737436		2203	4300	6503	204445681	SO:0001583	missense	1493	exon3				CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.573G>T	2.37:g.204737436G>T	ENSP00000303939:p.Lys191Asn		204445681	NM_001037631	A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	CCDS2362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.787750|2.787750	0.49997|0.49997	.|.	.|.	ENSG00000163599|ENSG00000163599	ENST00000295854;ENST00000472206;ENST00000427473|ENST00000302823	.|T	.|0.36340	.|1.26	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.063176	.|0.64402	.|D	.|0.000006	.|T	.|0.40196	.|0.1107	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.55749	.|0.783	.|T	.|0.25187	.|-1.0139	.|10	0.66056|0.54805	D|T	0.02|0.06	-5.9658|-5.9658	17.0211|17.0211	0.86434|0.86434	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|191	.|P16410	.|CTLA4_HUMAN	X|N	155;60;118|191	.|ENSP00000303939:K191N	ENSP00000295854:E155X|ENSP00000303939:K191N	E|K	+|+	1|3	0|2	CTLA4|CTLA4	204445681|204445681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.105000|0.105000	0.19272|0.19272	3.197000|3.197000	0.51028|0.51028	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.398	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214	
NRP2	8828	broad.mit.edu	37	2	206548024	206548024	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206548024T>C	ENST00000357785.5	+	1	41	c.10T>C	c.(10-12)Ttt>Ctt	p.F4L	NRP2_ENST00000540178.1_Missense_Mutation_p.F4L|NRP2_ENST00000355117.4_Missense_Mutation_p.F4L|NRP2_ENST00000417189.1_Missense_Mutation_p.F4L|NRP2_ENST00000540841.1_Missense_Mutation_p.F4L|NRP2_ENST00000412873.2_Missense_Mutation_p.F4L|NRP2_ENST00000357118.4_Missense_Mutation_p.F4L|NRP2_ENST00000360409.3_Missense_Mutation_p.F4L|NRP2_ENST00000272849.3_Missense_Mutation_p.F4L			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F4L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AATGGATATGTTTCCTCTCAC	0.403																																					p.F4L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10C	2						.						91.0	90.0	90.0					2																	206548024		2203	4300	6503	206256269	SO:0001583	missense	8828	exon1			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.10T>C	2.37:g.206548024T>C	ENSP00000350432:p.Phe4Leu		206256269	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	t	6.695	0.496949	0.12762	.	.	ENSG00000118257	ENST00000340626;ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000450507;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;T;D;D;D;D;D	0.88818	-2.1;-2.11;-2.13;-2.43;1.64;-2.43;-2.17;-2.16;-2.2;-2.19	5.71	-1.19	0.09585	.	0.764526	0.12565	N	0.457825	T	0.78323	0.4265	L	0.32530	0.975	0.23483	N	0.997585	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.64326	-0.6434	10	0.51188	T	0.08	-0.6657	2.0702	0.03612	0.1184:0.136:0.2459:0.4996	.	4;4;4;4;4;4	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	L	4	ENSP00000353582:F4L;ENSP00000439658:F4L;ENSP00000439261:F4L;ENSP00000347238:F4L;ENSP00000404279:F4L;ENSP00000387519:F4L;ENSP00000349632:F4L;ENSP00000350432:F4L;ENSP00000407626:F4L;ENSP00000272849:F4L	ENSP00000272849:F4L	F	+	1	0	NRP2	206256269	1.000000	0.71417	0.995000	0.50966	0.013000	0.08279	0.458000	0.21892	-0.171000	0.10797	-1.168000	0.01747	TTT		0.403	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NRP2	8828	broad.mit.edu	37	2	206587264	206587264	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206587264C>A	ENST00000357785.5	+	4	527	c.496C>A	c.(496-498)Cct>Act	p.P166T	NRP2_ENST00000540178.1_Missense_Mutation_p.P166T|NRP2_ENST00000355117.4_Missense_Mutation_p.P166T|NRP2_ENST00000417189.1_Missense_Mutation_p.P166T|NRP2_ENST00000540841.1_Missense_Mutation_p.P166T|NRP2_ENST00000412873.2_Missense_Mutation_p.P166T|NRP2_ENST00000357118.4_Missense_Mutation_p.P166T|NRP2_ENST00000360409.3_Missense_Mutation_p.P166T|NRP2_ENST00000272849.3_Missense_Mutation_p.P166T			Q99435	NELL2_HUMAN	neuropilin 2	627	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.P166T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCCTGGGTTTCCTGAGAAGTA	0.463																																					p.P166T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496A	2						.						137.0	126.0	130.0					2																	206587264		2203	4300	6503	206295509	SO:0001583	missense	8828	exon4			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.496C>A	2.37:g.206587264C>A	ENSP00000350432:p.Pro166Thr		206295509	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788049	0.90367	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	6.17	6.17	0.99709	CUB (5);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	D	0.84518	0.0626	10	0.87932	D	0	-17.0155	20.8794	0.99867	0.0:1.0:0.0:0.0	.	166;166;166;166;166;166	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	T	166	ENSP00000353582:P166T;ENSP00000439658:P166T;ENSP00000439261:P166T;ENSP00000347238:P166T;ENSP00000387519:P166T;ENSP00000349632:P166T;ENSP00000350432:P166T;ENSP00000407626:P166T;ENSP00000272849:P166T	ENSP00000272849:P166T	P	+	1	0	NRP2	206295509	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCT		0.463	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NRP2	8828	broad.mit.edu	37	2	206608213	206608213	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206608213C>T	ENST00000357785.5	+	9	1609	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V	NRP2_ENST00000540178.1_Silent_p.V526V|NRP2_ENST00000355117.4_Silent_p.V526V|NRP2_ENST00000417189.1_Silent_p.V526V|NRP2_ENST00000540841.1_Silent_p.V526V|NRP2_ENST00000412873.2_Silent_p.V526V|NRP2_ENST00000357118.4_Silent_p.V526V|NRP2_ENST00000360409.3_Silent_p.V526V|NRP2_ENST00000272849.3_Silent_p.V526V			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V526V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGTTCAAAGTCTCCTACAGCC	0.542																																					p.V526V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1578T	2						.						78.0	84.0	82.0					2																	206608213		2203	4300	6503	206316458	SO:0001819	synonymous_variant	8828	exon9			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1578C>T	2.37:g.206608213C>T			206316458	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	CCDS46496.1																																																																																				0.542	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NRP2	8828	broad.mit.edu	37	2	206617600	206617600	+	Missense_Mutation	SNP	G	G	A	rs150629453		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206617600G>A	ENST00000357785.5	+	12	1976	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	NRP2_ENST00000540178.1_Missense_Mutation_p.D649N|NRP2_ENST00000540841.1_Missense_Mutation_p.D649N|NRP2_ENST00000412873.2_Missense_Mutation_p.D649N|NRP2_ENST00000357118.4_Missense_Mutation_p.D649N|NRP2_ENST00000360409.3_Missense_Mutation_p.D649N|NRP2_ENST00000272849.3_Missense_Mutation_p.D649N			Q99435	NELL2_HUMAN	neuropilin 2	639	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D649N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTGCAACTTCGATTTCCTCGA	0.522																																					p.D649N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1945A	2						.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	64.0	63.0	63.0		1945,1945,1945,1945,1945	5.7	1.0	2	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRP2	NM_003872.2,NM_018534.3,NM_201266.1,NM_201267.1,NM_201279.1	23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	649/927,649/907,649/932,649/902,649/910	206617600	1,13005	2203	4300	6503	206325845	SO:0001583	missense	8828	exon12			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1945G>A	2.37:g.206617600G>A	ENSP00000350432:p.Asp649Asn		206325845	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.794043	0.70452	0.0	1.16E-4	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.02552	4.25;4.25;4.25;4.25;4.25;4.25;4.25	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.179144	0.64402	D	0.000014	T	0.13030	0.0316	L	0.52364	1.645	0.80722	D	1	P;P;D;P;P	0.89917	0.843;0.843;1.0;0.916;0.916	B;B;D;B;B	0.85130	0.133;0.133;0.997;0.348;0.348	T	0.00322	-1.1818	10	0.52906	T	0.07	-19.1175	19.8575	0.96767	0.0:0.0:1.0:0.0	.	649;649;649;649;649	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	N	649	ENSP00000353582:D649N;ENSP00000439658:D649N;ENSP00000439261:D649N;ENSP00000349632:D649N;ENSP00000350432:D649N;ENSP00000407626:D649N;ENSP00000272849:D649N	ENSP00000272849:D649N	D	+	1	0	NRP2	206325845	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	6.473000	0.73572	2.698000	0.92095	0.561000	0.74099	GAT		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NRP2	8828	broad.mit.edu	37	2	206659554	206659554	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206659554G>T	ENST00000357785.5	+	17	2584	c.2553G>T	c.(2551-2553)aaG>aaT	p.K851N	NRP2_ENST00000540178.1_Missense_Mutation_p.K851N|NRP2_ENST00000540841.1_Missense_Mutation_p.K834N|NRP2_ENST00000412873.2_Missense_Mutation_p.K834N|NRP2_ENST00000360409.3_Missense_Mutation_p.K856N			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K856N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAAAGAAAAGAGCTGGCTGT	0.552																																					p.K856N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2568T	2						.						92.0	82.0	86.0					2																	206659554		2203	4300	6503	206367799	SO:0001583	missense	8828	exon17			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2553G>T	2.37:g.206659554G>T	ENSP00000350432:p.Lys851Asn		206367799	NM_201266	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	4.379	0.069932	0.08436	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357785;ENST00000412873	D;D;D;D;D	0.87491	-2.22;-2.19;-2.2;-2.26;-2.26	5.93	4.13	0.48395	.	0.410884	0.30043	N	0.010553	T	0.70072	0.3182	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.16396	0.017;0.007;0.009	B;B;B	0.15052	0.01;0.007;0.012	T	0.64837	-0.6313	10	0.31617	T	0.26	-26.2896	9.4105	0.38489	0.2795:0.0:0.7205:0.0	.	834;851;856	O60462-2;O60462-3;O60462	.;.;NRP2_HUMAN	N	856;851;834;851;834	ENSP00000353582:K856N;ENSP00000439658:K851N;ENSP00000439261:K834N;ENSP00000350432:K851N;ENSP00000407626:K834N	ENSP00000350432:K851N	K	+	3	2	NRP2	206367799	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	2.242000	0.43106	1.533000	0.49186	0.655000	0.94253	AAG		0.552	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1		
NDUFS1	4719	broad.mit.edu	37	2	206991506	206991506	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:206991506G>T	ENST00000233190.6	-	17	2213	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	NDUFS1_ENST00000440274.1_Silent_p.V613V|NDUFS1_ENST00000432169.1_Silent_p.V538V|NDUFS1_ENST00000457011.1_Silent_p.V533V|NDUFS1_ENST00000449699.1_Silent_p.V649V|NDUFS1_ENST00000455934.2_Silent_p.V663V|NDUFS1_ENST00000423725.1_Silent_p.V592V	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	649			V -> F (in dbSNP:rs1044049). {ECO:0000269|PubMed:1935949}.		apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V649V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTAGGAGAGACTTCTTCCA	0.403																																					p.V649V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1947A	2						.						150.0	150.0	150.0					2																	206991506		2203	4300	6503	206699751	SO:0001819	synonymous_variant	4719	exon17				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1947C>A	2.37:g.206991506G>T			206699751	NM_005006	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																				0.403	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
GPR1	2825	broad.mit.edu	37	2	207040924	207040924	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207040924G>T	ENST00000407325.2	-	3	1410	c.1048C>A	c.(1048-1050)Ctc>Atc	p.L350I	GPR1_ENST00000437420.1_Missense_Mutation_p.L350I	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	350					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L350I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GTTTCCAGGAGACACAGATTC	0.418																																					p.L350I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048A	2						.						63.0	59.0	60.0					2																	207040924		2203	4300	6503	206749169	SO:0001583	missense	2825	exon3				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.1048C>A	2.37:g.207040924G>T	ENSP00000384345:p.Leu350Ile		206749169	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	8.521	0.868669	0.17322	.	.	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.71817	-0.6;-0.6	5.56	5.56	0.83823	.	0.392413	0.22739	N	0.056236	T	0.50103	0.1596	N	0.08118	0	0.18873	N	0.999988	P	0.43094	0.799	B	0.40901	0.343	T	0.47923	-0.9079	10	0.41790	T	0.15	.	9.4686	0.38829	0.077:0.1443:0.7787:0.0	.	350	P46091	GPR1_HUMAN	I	350	ENSP00000384345:L350I;ENSP00000397535:L350I	ENSP00000384345:L350I	L	-	1	0	GPR1	206749169	0.006000	0.16342	0.988000	0.46212	0.062000	0.15995	0.748000	0.26305	2.636000	0.89361	0.655000	0.94253	CTC		0.418	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
ZDBF2	57683	broad.mit.edu	37	2	207162004	207162004	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207162004G>T	ENST00000374423.3	+	4	481	c.95G>T	c.(94-96)aGa>aTa	p.R32I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	32							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R32I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTTTGACCAGACAGAGTAGA	0.383																																					p.R32I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G95T	2						.						114.0	103.0	106.0					2																	207162004		1863	4113	5976	206870249	SO:0001583	missense	57683	exon4			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.95G>T	2.37:g.207162004G>T	ENSP00000363545:p.Arg32Ile		206870249	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581597	0.46006	.	.	ENSG00000204186	ENST00000374423	T	0.52057	0.68	4.81	2.04	0.26737	Zinc finger, DBF-type (2);	.	.	.	.	T	0.28797	0.0714	N	0.19112	0.55	0.09310	N	0.999998	B	0.30634	0.288	B	0.28638	0.092	T	0.15896	-1.0421	9	0.44086	T	0.13	.	5.6109	0.17404	0.0:0.5259:0.2516:0.2225	.	32	Q9HCK1	ZDBF2_HUMAN	I	32	ENSP00000363545:R32I	ENSP00000363545:R32I	R	+	2	0	ZDBF2	206870249	0.006000	0.16342	0.009000	0.14445	0.575000	0.36095	0.384000	0.20668	0.203000	0.20529	0.484000	0.47621	AGA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207170018	207170018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207170018G>T	ENST00000374423.3	+	5	1152	c.766G>T	c.(766-768)Gaa>Taa	p.E256*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	256							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E256*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAACATAAAGAATCAAATAG	0.363																																					p.E256X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G766T	2						.						30.0	29.0	29.0					2																	207170018		1828	4084	5912	206878263	SO:0001587	stop_gained	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.766G>T	2.37:g.207170018G>T	ENSP00000363545:p.Glu256*		206878263	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588904	0.86851	.	.	ENSG00000204186	ENST00000374423	.	.	.	5.11	3.16	0.36331	.	0.000000	0.36972	N	0.002304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	2.7319	0.05229	0.0953:0.1405:0.4383:0.3259	.	.	.	.	X	256	.	ENSP00000363545:E256X	E	+	1	0	ZDBF2	206878263	0.204000	0.23447	0.679000	0.29978	0.082000	0.17680	1.981000	0.40628	1.117000	0.41842	0.650000	0.86243	GAA		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	471							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333																																					p.E471X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1411T	2						.						43.0	41.0	42.0					2																	207170663		1847	4090	5937	206878908	SO:0001587	stop_gained	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1411G>T	2.37:g.207170663G>T	ENSP00000363545:p.Glu471*		206878908	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993924	0.97987	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.89	4.89	0.63831	.	0.851161	0.09773	N	0.757716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2831	0.66226	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000363545:E471X	E	+	1	0	ZDBF2	206878908	0.997000	0.39634	0.033000	0.17914	0.004000	0.04260	3.749000	0.55150	2.638000	0.89438	0.603000	0.83216	GAA		0.333	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207171187	207171187	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207171187G>T	ENST00000374423.3	+	5	2321	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	645							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K645N(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTGTTGAAAAGATAAATCTTC	0.423																																					p.K645N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1935T	2						.						90.0	87.0	88.0					2																	207171187		1871	4112	5983	206879432	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1935G>T	2.37:g.207171187G>T	ENSP00000363545:p.Lys645Asn		206879432	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	2.684	-0.274653	0.05679	.	.	ENSG00000204186	ENST00000374423	T	0.45276	0.9	4.06	-1.26	0.09376	.	1.078320	0.07314	N	0.876301	T	0.21427	0.0516	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.20075	-1.0286	10	0.45353	T	0.12	.	3.4305	0.07426	0.4091:0.0:0.3992:0.1918	.	645	Q9HCK1	ZDBF2_HUMAN	N	645	ENSP00000363545:K645N	ENSP00000363545:K645N	K	+	3	2	ZDBF2	206879432	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.207000	0.09384	-0.212000	0.10109	-0.302000	0.09304	AAG		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207172439G>T	ENST00000374423.3	+	5	3573	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1063							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1063*(2)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323																																					p.E1063X												.	.	3	Substitution - Nonsense(2)|Substitution - Missense(1)	large_intestine(2)|NS(1)	c.G3187T	2						.						55.0	54.0	54.0					2																	207172439		1816	4085	5901	206880684	SO:0001587	stop_gained	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3187G>T	2.37:g.207172439G>T	ENSP00000363545:p.Glu1063*		206880684	NM_020923	Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	40	7.964113	0.98585	.	.	ENSG00000204186	ENST00000374423	.	.	.	3.39	1.48	0.22813	.	0.713313	0.11617	N	0.546171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	4.6656	0.12664	0.1272:0.2254:0.6473:0.0	.	.	.	.	X	1063	.	ENSP00000363545:E1063X	E	+	1	0	ZDBF2	206880684	0.314000	0.24563	0.001000	0.08648	0.008000	0.06430	0.879000	0.28146	0.402000	0.25451	0.557000	0.71058	GAA		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173188	207173188	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207173188G>T	ENST00000374423.3	+	5	4322	c.3936G>T	c.(3934-3936)gaG>gaT	p.E1312D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1312							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1312D(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTGAGGGAGGAACATGTTT	0.363																																					p.E1312D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3936T	2						.						38.0	37.0	37.0					2																	207173188		1833	4074	5907	206881433	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3936G>T	2.37:g.207173188G>T	ENSP00000363545:p.Glu1312Asp		206881433	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398419	0.42512	.	.	ENSG00000204186	ENST00000374423	T	0.50001	0.76	3.38	0.404	0.16355	.	.	.	.	.	T	0.51176	0.1659	M	0.64404	1.975	0.09310	N	1	D	0.61080	0.989	P	0.55391	0.775	T	0.41251	-0.9519	9	0.66056	D	0.02	.	2.683	0.05100	0.2679:0.0:0.5095:0.2226	.	1312	Q9HCK1	ZDBF2_HUMAN	D	1312	ENSP00000363545:E1312D	ENSP00000363545:E1312D	E	+	3	2	ZDBF2	206881433	0.952000	0.32445	0.185000	0.23176	0.010000	0.07245	0.433000	0.21477	0.061000	0.16311	-0.175000	0.13238	GAG		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207173411G>A	ENST00000374423.3	+	5	4545	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1387							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1387K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353																																					p.E1387K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4159A	2						.						45.0	43.0	44.0					2																	207173411		1823	4087	5910	206881656	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4159G>A	2.37:g.207173411G>A	ENSP00000363545:p.Glu1387Lys		206881656	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229661	0.39399	.	.	ENSG00000204186	ENST00000374423	T	0.48522	0.81	3.76	2.87	0.33458	.	.	.	.	.	T	0.56688	0.2002	M	0.67397	2.05	0.09310	N	1	D	0.61697	0.99	P	0.57620	0.824	T	0.42498	-0.9448	9	0.46703	T	0.11	.	7.1084	0.25376	0.1222:0.0:0.8778:0.0	.	1387	Q9HCK1	ZDBF2_HUMAN	K	1387	ENSP00000363545:E1387K	ENSP00000363545:E1387K	E	+	1	0	ZDBF2	206881656	0.663000	0.27448	0.013000	0.15412	0.222000	0.24845	1.236000	0.32683	1.156000	0.42514	0.650000	0.86243	GAA		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173526	207173526	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207173526C>A	ENST00000374423.3	+	5	4660	c.4274C>A	c.(4273-4275)tCt>tAt	p.S1425Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1425							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S1425Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTGATCAATCTTCTGTACCT	0.323																																					p.S1425Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4274A	2						.						55.0	53.0	54.0					2																	207173526		1828	4088	5916	206881771	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4274C>A	2.37:g.207173526C>A	ENSP00000363545:p.Ser1425Tyr		206881771	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	7.863	0.726446	0.15439	.	.	ENSG00000204186	ENST00000374423	T	0.55760	0.5	3.54	2.66	0.31614	.	.	.	.	.	T	0.62612	0.2442	L	0.58101	1.795	0.09310	N	1	D	0.69078	0.997	D	0.65573	0.936	T	0.48547	-0.9026	9	0.59425	D	0.04	.	6.6258	0.22828	0.0:0.8709:0.0:0.1291	.	1425	Q9HCK1	ZDBF2_HUMAN	Y	1425	ENSP00000363545:S1425Y	ENSP00000363545:S1425Y	S	+	2	0	ZDBF2	206881771	0.030000	0.19436	0.005000	0.12908	0.047000	0.14425	0.981000	0.29526	1.069000	0.40788	0.650000	0.86243	TCT		0.323	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174574	207174574	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207174574G>T	ENST00000374423.3	+	5	5708	c.5322G>T	c.(5320-5322)aaG>aaT	p.K1774N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1774							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1774N(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCCTTGTAAGAAGGTATCTT	0.413																																					p.K1774N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5322T	2						.						56.0	57.0	57.0					2																	207174574		1863	4101	5964	206882819	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5322G>T	2.37:g.207174574G>T	ENSP00000363545:p.Lys1774Asn		206882819	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972597	0.34848	.	.	ENSG00000204186	ENST00000374423	T	0.57273	0.41	5.04	2.11	0.27256	.	.	.	.	.	T	0.43964	0.1271	L	0.46157	1.445	0.09310	N	1	P	0.41313	0.745	B	0.41236	0.351	T	0.39563	-0.9608	9	0.72032	D	0.01	.	4.9457	0.13987	0.2301:0.0:0.6037:0.1662	.	1774	Q9HCK1	ZDBF2_HUMAN	N	1774	ENSP00000363545:K1774N	ENSP00000363545:K1774N	K	+	3	2	ZDBF2	206882819	0.957000	0.32711	0.085000	0.20634	0.008000	0.06430	1.369000	0.34227	1.333000	0.45449	0.650000	0.86243	AAG		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207175956	207175956	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207175956G>A	ENST00000374423.3	+	5	7090	c.6704G>A	c.(6703-6705)cGt>cAt	p.R2235H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2235							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R2235H(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCTTTTTACGTCATAGATAT	0.378																																					p.R2235H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6704A	2						.						37.0	37.0	37.0					2																	207175956		1817	4075	5892	206884201	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6704G>A	2.37:g.207175956G>A	ENSP00000363545:p.Arg2235His		206884201	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137374	0.37728	.	.	ENSG00000204186	ENST00000374423	T	0.50548	0.74	5.46	0.00825	0.14074	.	.	.	.	.	T	0.27765	0.0683	L	0.36672	1.1	0.09310	N	1	B	0.23806	0.091	B	0.15870	0.014	T	0.18967	-1.0320	9	0.15066	T	0.55	.	1.7333	0.02936	0.2405:0.3202:0.3106:0.1287	.	2235	Q9HCK1	ZDBF2_HUMAN	H	2235	ENSP00000363545:R2235H	ENSP00000363545:R2235H	R	+	2	0	ZDBF2	206884201	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.158000	0.10070	0.051000	0.15978	-0.137000	0.14449	CGT		0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
DYTN	391475	broad.mit.edu	37	2	207516562	207516562	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207516562C>A	ENST00000452335.2	-	12	1833	c.1717G>T	c.(1717-1719)Gcc>Tcc	p.A573S	AC010731.4_ENST00000543490.1_lincRNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	573						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A573S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTGGGCAAGGCAATTTGATCA	0.453																																					p.A573S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1717T	2						.						66.0	68.0	68.0					2																	207516562		1970	4165	6135	207224807	SO:0001583	missense	391475	exon12			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1717G>T	2.37:g.207516562C>A	ENSP00000396593:p.Ala573Ser		207224807	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	7.072	0.568445	0.13560	.	.	ENSG00000232125	ENST00000452335	T	0.14516	2.5	5.33	2.96	0.34315	.	.	.	.	.	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30679	-0.9970	9	0.72032	D	0.01	-2.7316	7.7745	0.29029	0.0:0.1654:0.0:0.8346	.	573	A2CJ06	DYTN_HUMAN	S	573	ENSP00000396593:A573S	ENSP00000396593:A573S	A	-	1	0	DYTN	207224807	0.997000	0.39634	0.113000	0.21522	0.001000	0.01503	1.579000	0.36536	0.485000	0.27652	-1.004000	0.02495	GCC		0.453	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
DYTN	391475	broad.mit.edu	37	2	207572149	207572149	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207572149G>T	ENST00000452335.2	-	3	289	c.173C>A	c.(172-174)tCt>tAt	p.S58Y	DYTN_ENST00000477734.1_5'Flank	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	58						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S58Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTGCTGCACAGAAAGGGAGTG	0.522																																					p.S58Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C173A	2						.						60.0	58.0	59.0					2																	207572149		1900	4133	6033	207280394	SO:0001583	missense	391475	exon3			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.173C>A	2.37:g.207572149G>T	ENSP00000396593:p.Ser58Tyr		207280394	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568557	0.28003	.	.	ENSG00000232125	ENST00000452335	T	0.66638	-0.22	4.87	4.87	0.63330	EF-hand domain, type 1 (1);	.	.	.	.	T	0.71796	0.3382	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.63207	-0.6689	9	0.72032	D	0.01	-6.8196	12.7893	0.57523	0.0:0.0:0.8258:0.1742	.	58	A2CJ06	DYTN_HUMAN	Y	58	ENSP00000396593:S58Y	ENSP00000396593:S58Y	S	-	2	0	DYTN	207280394	1.000000	0.71417	0.047000	0.18901	0.003000	0.03518	4.457000	0.60088	2.673000	0.90976	0.655000	0.94253	TCT		0.522	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
MDH1B	130752	broad.mit.edu	37	2	207611134	207611134	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207611134C>T	ENST00000374412.3	-	8	1508	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	MDH1B_ENST00000449792.1_Silent_p.P313P|MDH1B_ENST00000454776.2_Silent_p.P411P|MDH1B_ENST00000392214.2_Silent_p.P198P	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	411					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.P411P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CGATCCCTTTCGGAATACCAA	0.393																																					p.P411P	Pancreas(76;29 1355 28675 37177 51207)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1233A	2						.						74.0	68.0	70.0					2																	207611134		2203	4300	6503	207319379	SO:0001819	synonymous_variant	130752	exon8				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1233G>A	2.37:g.207611134C>T			207319379	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	CCDS33365.1																																																																																				0.393	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
MDH1B	130752	broad.mit.edu	37	2	207620204	207620204	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207620204G>T	ENST00000374412.3	-	5	714	c.439C>A	c.(439-441)Cta>Ata	p.L147I	MDH1B_ENST00000449792.1_Missense_Mutation_p.L49I|MDH1B_ENST00000454776.2_Missense_Mutation_p.L147I|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	147					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.L147I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATGGGAATTAGGTTGTAGCAG	0.398																																					p.L147I	Pancreas(76;29 1355 28675 37177 51207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C439A	2						.						72.0	68.0	70.0					2																	207620204		2203	4300	6503	207328449	SO:0001583	missense	130752	exon5				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.439C>A	2.37:g.207620204G>T	ENSP00000363533:p.Leu147Ile		207328449	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510688	0.64522	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.56103	0.48;0.48;0.48	6.06	3.27	0.37495	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	M	0.82923	2.615	0.80722	D	1	D;P	0.55605	0.972;0.952	P;P	0.61592	0.891;0.78	T	0.70167	-0.4946	10	0.51188	T	0.08	-16.3172	10.2866	0.43570	0.213:0.0:0.787:0.0	.	147;147	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	I	147;49;147	ENSP00000363533:L147I;ENSP00000416577:L49I;ENSP00000389916:L147I	ENSP00000363533:L147I	L	-	1	2	MDH1B	207328449	0.961000	0.32948	0.104000	0.21259	0.068000	0.16541	1.534000	0.36051	0.867000	0.35654	0.650000	0.86243	CTA		0.398	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
MDH1B	130752	broad.mit.edu	37	2	207625639	207625639	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207625639G>T	ENST00000374412.3	-	2	396	c.121C>A	c.(121-123)Cct>Act	p.P41T	MDH1B_ENST00000449792.1_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P41T|MDH1B_ENST00000392214.2_Missense_Mutation_p.P41T	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	41					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.P41T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACCTCAGGACGTTGTGTG	0.348																																					p.P41T	Pancreas(76;29 1355 28675 37177 51207)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C121A	2						.						134.0	135.0	135.0					2																	207625639		2203	4300	6503	207333884	SO:0001583	missense	130752	exon2				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.121C>A	2.37:g.207625639G>T	ENSP00000363533:p.Pro41Thr		207333884	NM_001039845	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106326	0.77096	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.58797	0.31;0.31;0.31	5.62	5.62	0.85841	.	0.050671	0.85682	D	0.000000	T	0.78941	0.4363	M	0.81497	2.545	0.49130	D	0.999756	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.974	T	0.80571	-0.1323	10	0.87932	D	0	-21.2594	20.024	0.97514	0.0:0.0:1.0:0.0	.	41;41	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	T	41	ENSP00000363533:P41T;ENSP00000389916:P41T;ENSP00000376049:P41T	ENSP00000363533:P41T	P	-	1	0	MDH1B	207333884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.887000	0.75616	2.809000	0.96659	0.655000	0.94253	CCT		0.348	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845	
FASTKD2	22868	broad.mit.edu	37	2	207631617	207631617	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207631617G>T	ENST00000236980.6	+	2	548	c.200G>T	c.(199-201)aGa>aTa	p.R67I	MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000392214.2_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R67I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R67I|MDH1B_ENST00000374412.3_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	67					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R67I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTTCATAACAGAATGCAATCA	0.333																																					p.R67I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200T	2						.						62.0	63.0	62.0					2																	207631617		2202	4300	6502	207339862	SO:0001583	missense	22868	exon2			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.200G>T	2.37:g.207631617G>T	ENSP00000236980:p.Arg67Ile		207339862	NM_001136193	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357983	0.41801	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.47177	2.45;0.85;2.45;2.45	4.98	-0.283	0.12874	.	4.225000	0.00166	N	0.000011	T	0.45895	0.1365	L	0.40543	1.245	0.09310	N	1	D;P	0.53151	0.958;0.855	P;B	0.51135	0.66;0.36	T	0.26744	-1.0094	10	0.51188	T	0.08	-1.7575	0.9391	0.01351	0.3706:0.1528:0.3195:0.1571	.	67;67	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	I	67	ENSP00000236980:R67I;ENSP00000409927:R67I;ENSP00000385990:R67I;ENSP00000384929:R67I	ENSP00000236980:R67I	R	+	2	0	FASTKD2	207339862	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.409000	0.21082	0.040000	0.15660	-0.339000	0.08088	AGA		0.333	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
FASTKD2	22868	broad.mit.edu	37	2	207638988	207638988	+	Nonsense_Mutation	SNP	C	C	T	rs118203917		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207638988C>T	ENST00000236980.6	+	7	1642	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	FASTKD2_ENST00000402774.3_Nonsense_Mutation_p.R432*|FASTKD2_ENST00000403094.3_Nonsense_Mutation_p.R432*	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	432					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R432*(1)|p.R432G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCTTGGCTTTCGACCTGTTGG	0.303																																					p.R432X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|prostate(1)	c.C1294T	2	GRCh37	CM085400	FASTKD2	M	rs118203917	.						87.0	86.0	86.0					2																	207638988		2202	4296	6498	207347233	SO:0001587	stop_gained	22868	exon7			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1294C>T	2.37:g.207638988C>T	ENSP00000236980:p.Arg432*		207347233	NM_001136193	Q9NVX6|Q9Y2H7	Nonsense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	C	37	6.352057	0.97498	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	.	.	.	5.74	4.79	0.61399	.	0.349524	0.27402	N	0.019529	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-18.3065	16.4943	0.84223	0.1397:0.8603:0.0:0.0	.	.	.	.	X	432	.	ENSP00000236980:R432X	R	+	1	2	FASTKD2	207347233	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	3.036000	0.49767	2.703000	0.92315	0.655000	0.94253	CGA		0.303	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
C2orf43	60526	broad.mit.edu	37	2	20939875	20939875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:20939875G>A	ENST00000237822.3	-	5	638	c.559C>T	c.(559-561)Cga>Tga	p.R187*	C2orf43_ENST00000541941.1_Nonsense_Mutation_p.R57*|C2orf43_ENST00000403006.2_Nonsense_Mutation_p.R57*|C2orf43_ENST00000435420.2_Nonsense_Mutation_p.R139*|C2orf43_ENST00000381090.3_Nonsense_Mutation_p.R187*|C2orf43_ENST00000440866.2_Intron	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	187								p.R187*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACATATCGAAACCAGCAC	0.418																																					p.R187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C559T	2						.						118.0	115.0	116.0					2																	20939875		2203	4300	6503	20803356	SO:0001587	stop_gained	60526	exon5			AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.559C>T	2.37:g.20939875G>A	ENSP00000237822:p.Arg187*		20803356	NM_021925	B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Nonsense_Mutation	SNP	ENST00000237822.3	37	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	G	39	7.554306	0.98355	.	.	ENSG00000118961	ENST00000403006;ENST00000381090;ENST00000237822;ENST00000435420;ENST00000541941;ENST00000432947;ENST00000412261	.	.	.	5.61	4.72	0.59763	.	0.056018	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-7.6822	13.8478	0.63479	0.0:0.0:0.8457:0.1542	.	.	.	.	X	57;187;187;139;57;57;139	.	ENSP00000237822:R187X	R	-	1	2	C2orf43	20803356	1.000000	0.71417	0.950000	0.38849	0.978000	0.69477	3.868000	0.56055	1.472000	0.48140	0.650000	0.86243	CGA		0.418	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925	
FASTKD2	22868	broad.mit.edu	37	2	207653617	207653617	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207653617G>T	ENST00000236980.6	+	10	2236	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	FASTKD2_ENST00000402774.3_Missense_Mutation_p.D630Y|FASTKD2_ENST00000403094.3_Missense_Mutation_p.D630Y	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	630					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.D630Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTCTGCTACAGATATTCAAAG	0.308																																					p.D630Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1888T	2						.						60.0	59.0	59.0					2																	207653617		2203	4300	6503	207361862	SO:0001583	missense	22868	exon10			BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.1888G>T	2.37:g.207653617G>T	ENSP00000236980:p.Asp630Tyr		207361862	NM_001136193	Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841563	0.51057	.	.	ENSG00000118246	ENST00000236980;ENST00000402774;ENST00000403094	T;T;T	0.16457	2.34;2.34;2.34	6.16	2.1	0.27182	.	1.402390	0.04345	N	0.354695	T	0.41282	0.1152	M	0.78801	2.425	0.26744	N	0.970335	D;P	0.76494	0.999;0.883	D;P	0.65874	0.939;0.541	T	0.03221	-1.1059	10	0.52906	T	0.07	-21.6252	6.8064	0.23780	0.4831:0.0:0.5169:0.0	.	630;630	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	Y	630	ENSP00000236980:D630Y;ENSP00000385990:D630Y;ENSP00000384929:D630Y	ENSP00000236980:D630Y	D	+	1	0	FASTKD2	207361862	0.726000	0.28059	0.954000	0.39281	0.785000	0.44390	0.024000	0.13555	0.081000	0.16988	-0.157000	0.13467	GAT		0.308	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929	
METTL21A	151194	broad.mit.edu	37	2	208477792	208477792	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:208477792C>A	ENST00000411432.1	-	4	851	c.635G>T	c.(634-636)aGa>aTa	p.R212I	METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.R212I|METTL21A_ENST00000272839.3_Missense_Mutation_p.R230I|METTL21A_ENST00000406927.2_Missense_Mutation_p.R212I|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R212I|METTL21A_ENST00000448007.2_Missense_Mutation_p.R212I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	212					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.R212I(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTTCTGGTTTCTCTTCTGTGC	0.363																																					p.R212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635T	2						.						132.0	136.0	135.0					2																	208477792		2203	4300	6503	208186037	SO:0001583	missense	151194	exon4			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.635G>T	2.37:g.208477792C>A	ENSP00000415115:p.Arg212Ile		208186037	NM_001127395	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408865	0.25378	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.14766	2.49;2.49;2.48;2.49;2.49;2.49	4.76	2.96	0.34315	.	0.648932	0.16743	N	0.201379	T	0.13500	0.0327	L	0.50333	1.59	0.19300	N	0.999973	B	0.09022	0.002	B	0.04013	0.001	T	0.14008	-1.0488	10	0.54805	T	0.06	-19.5715	9.6896	0.40120	0.0:0.7404:0.0:0.2596	.	212	Q8WXB1	MT21A_HUMAN	I	212;212;230;212;212;212	ENSP00000415115:R212I;ENSP00000407622:R212I;ENSP00000272839:R230I;ENSP00000385481:R212I;ENSP00000403317:R212I;ENSP00000392062:R212I	ENSP00000272839:R230I	R	-	2	0	METTL21A	208186037	0.000000	0.05858	0.997000	0.53966	0.998000	0.95712	-0.241000	0.08940	1.379000	0.46325	0.561000	0.74099	AGA		0.363	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	
PIKFYVE	200576	broad.mit.edu	37	2	209190769	209190769	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209190769A>G	ENST00000264380.4	+	20	3392	c.3234A>G	c.(3232-3234)cgA>cgG	p.R1078R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1078					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1078R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCTCTACCCGAGATTATTTTG	0.423																																					p.R1078R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3234G	2						.						69.0	75.0	73.0					2																	209190769		2203	4300	6503	208899014	SO:0001819	synonymous_variant	200576	exon20			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3234A>G	2.37:g.209190769A>G			208899014	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	CCDS2382.1																																																																																				0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209191017	209191017	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209191017G>T	ENST00000264380.4	+	20	3640	c.3482G>T	c.(3481-3483)aGa>aTa	p.R1161I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1161					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1161I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGAGGAGGAAGAATTCAGCCC	0.468																																					p.R1161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3482T	2						.						70.0	68.0	69.0					2																	209191017		2203	4300	6503	208899262	SO:0001583	missense	200576	exon20			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3482G>T	2.37:g.209191017G>T	ENSP00000264380:p.Arg1161Ile		208899262	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699652	0.88830	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.47528	0.84;1.02	5.58	5.58	0.84498	.	0.097761	0.64402	D	0.000002	T	0.69305	0.3096	M	0.70842	2.15	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.78314	0.991;0.974	T	0.67914	-0.5547	9	.	.	.	-21.1173	19.5743	0.95436	0.0:0.0:1.0:0.0	.	1161;1105	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	I	1161;737;1105	ENSP00000264380:R1161I;ENSP00000405736:R1105I	.	R	+	2	0	PIKFYVE	208899262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.511000	0.98006	2.611000	0.88343	0.655000	0.94253	AGA		0.468	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209209896	209209896	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209209896G>A	ENST00000264380.4	+	33	5247	c.5089G>A	c.(5089-5091)Gaa>Aaa	p.E1697K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1697					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.E1697K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAACAGTGCCGAAGAAGGGCT	0.333																																					p.E1697K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5089A	2						.						71.0	75.0	74.0					2																	209209896		2203	4300	6503	208918141	SO:0001583	missense	200576	exon33			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5089G>A	2.37:g.209209896G>A	ENSP00000264380:p.Glu1697Lys		208918141	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034902	0.54896	.	.	ENSG00000115020	ENST00000264380	T	0.29397	1.57	5.42	5.42	0.78866	.	0.125717	0.53938	D	0.000058	T	0.27489	0.0675	L	0.43152	1.355	0.80722	D	1	D	0.56521	0.976	B	0.41299	0.353	T	0.06643	-1.0815	10	0.10377	T	0.69	-20.9673	19.2334	0.93849	0.0:0.0:1.0:0.0	.	1697	Q9Y2I7	FYV1_HUMAN	K	1697	ENSP00000264380:E1697K	ENSP00000264380:E1697K	E	+	1	0	PIKFYVE	208918141	1.000000	0.71417	0.988000	0.46212	0.109000	0.19521	7.792000	0.85828	2.538000	0.85594	0.585000	0.79938	GAA		0.333	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209214776	209214776	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209214776G>T	ENST00000264380.4	+	36	5561	c.5403G>T	c.(5401-5403)aaG>aaT	p.K1801N		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1801	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.K1801N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATACACAAAAGAAGCAACTCA	0.343																																					p.K1801N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5403T	2						.						119.0	120.0	120.0					2																	209214776		2203	4299	6502	208923021	SO:0001583	missense	200576	exon36			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5403G>T	2.37:g.209214776G>T	ENSP00000264380:p.Lys1801Asn		208923021	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668498	0.67814	.	.	ENSG00000115020	ENST00000264380	T	0.30182	1.54	5.75	4.69	0.59074	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	L	0.31664	0.95	0.80722	D	1	D	0.54964	0.969	P	0.52159	0.691	T	0.01127	-1.1443	10	0.17832	T	0.49	-22.3263	15.3814	0.74658	0.0787:0.0:0.9213:0.0	.	1801	Q9Y2I7	FYV1_HUMAN	N	1801	ENSP00000264380:K1801N	ENSP00000264380:K1801N	K	+	3	2	PIKFYVE	208923021	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.610000	0.61155	2.725000	0.93324	0.655000	0.94253	AAG		0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PTH2R	5746	broad.mit.edu	37	2	209355366	209355366	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209355366T>C	ENST00000272847.2	+	12	1431	c.1218T>C	c.(1216-1218)ggT>ggC	p.G406G	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	406					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.G406G(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GTCTGCAGGGTTTCTTTGTGT	0.428																																					p.G406G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1218C	2						.						215.0	201.0	206.0					2																	209355366		2203	4300	6503	209063611	SO:0001819	synonymous_variant	5746	exon12			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1218T>C	2.37:g.209355366T>C			209063611	NM_005048	Q8N429	Silent	SNP	ENST00000272847.2	37	CCDS2383.1																																																																																				0.428	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
PTH2R	5746	broad.mit.edu	37	2	209358071	209358071	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:209358071G>T	ENST00000272847.2	+	13	1553	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	447					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.R447I(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GGCAGCCGCAGATGCGGCTCA	0.592																																					p.R447I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1340T	2						.						35.0	36.0	36.0					2																	209358071		2203	4300	6503	209066316	SO:0001583	missense	5746	exon13			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1340G>T	2.37:g.209358071G>T	ENSP00000272847:p.Arg447Ile		209066316	NM_005048	Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418158	0.42918	.	.	ENSG00000144407	ENST00000272847	T	0.54479	0.57	5.76	5.76	0.90799	.	0.000000	0.39909	U	0.001231	T	0.61664	0.2365	M	0.70275	2.135	0.24385	N	0.994779	P;P	0.45011	0.848;0.848	P;P	0.47075	0.536;0.536	T	0.59768	-0.7392	9	.	.	.	.	17.4442	0.87574	0.0:0.0:1.0:0.0	.	336;447	B4DFN8;P49190	.;PTH2R_HUMAN	I	447	ENSP00000272847:R447I	.	R	+	2	0	PTH2R	209066316	1.000000	0.71417	0.163000	0.22734	0.005000	0.04900	4.749000	0.62155	2.720000	0.93068	0.591000	0.81541	AGA		0.592	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
MAP2	4133	broad.mit.edu	37	2	210560710	210560710	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:210560710C>A	ENST00000360351.4	+	7	4322	c.3816C>A	c.(3814-3816)acC>acA	p.T1272T	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.T1268T	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1272					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1272T(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTGTGGAGACCTGCCCAAGTG	0.493																																					p.T1272T	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3816A	2						.						140.0	140.0	140.0					2																	210560710		2203	4300	6503	210268955	SO:0001819	synonymous_variant	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3816C>A	2.37:g.210560710C>A			210268955	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210561750	210561750	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:210561750C>A	ENST00000360351.4	+	9	5003	c.4497C>A	c.(4495-4497)ctC>ctA	p.L1499L	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.L1495L|MAP2_ENST00000475600.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1499					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.L1499L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAACTCATCTCTCCTGTGTTA	0.383																																					p.L1499L	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4497A	2						.						81.0	87.0	85.0					2																	210561750		2203	4300	6503	210269995	SO:0001819	synonymous_variant	4133	exon9				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4497C>A	2.37:g.210561750C>A			210269995	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.383	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
KANSL1L	151050	broad.mit.edu	37	2	210888874	210888874	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:210888874A>C	ENST00000281772.9	-	14	2879	c.2616T>G	c.(2614-2616)ccT>ccG	p.P872P	KANSL1L_ENST00000418791.1_Silent_p.P830P	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	872						histone acetyltransferase complex (GO:0000123)		p.P872P(1)									TGAAGTTATTAGGGTATTCTT	0.388																																					p.P872P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2616G	2						.						75.0	75.0	75.0					2																	210888874		2203	4300	6503	210597119	SO:0001819	synonymous_variant	151050	exon14			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2616T>G	2.37:g.210888874A>C			210597119	NM_152519	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	ENST00000281772.9	37	CCDS33370.1																																																																																				0.388	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	
KANSL1L	151050	broad.mit.edu	37	2	211018574	211018574	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211018574A>C	ENST00000281772.9	-	2	996	c.733T>G	c.(733-735)Ttg>Gtg	p.L245V	KANSL1L_ENST00000457374.1_Missense_Mutation_p.L245V|KANSL1L_ENST00000418791.1_Missense_Mutation_p.L245V|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000452086.1_Missense_Mutation_p.L245V	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	245						histone acetyltransferase complex (GO:0000123)		p.L245V(1)									AGCATCTGCAAATGTTTCTGA	0.393																																					p.L245V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T733G	2						.						84.0	82.0	82.0					2																	211018574		2203	4300	6503	210726819	SO:0001583	missense	151050	exon2			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.733T>G	2.37:g.211018574A>C	ENSP00000281772:p.Leu245Val		210726819	NM_152519	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124395	0.56613	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.95	3.61	0.41365	.	0.000000	0.56097	D	0.000032	T	0.69628	0.3132	L	0.58428	1.81	0.35305	D	0.783377	D;D;D;D	0.76494	0.996;0.999;0.998;0.998	D;D;D;D	0.85130	0.929;0.997;0.99;0.99	T	0.76285	-0.3015	9	0.87932	D	0	.	10.1289	0.42667	0.866:0.0:0.134:0.0	.	245;245;245;245	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	V	245	.	ENSP00000281772:L245V	L	-	1	2	C2orf67	210726819	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.201000	0.42734	0.521000	0.28445	0.460000	0.39030	TTG		0.393	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519	
APOB	338	broad.mit.edu	37	2	21228262	21228262	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21228262C>T	ENST00000233242.1	-	26	11605	c.11478G>A	c.(11476-11478)acG>acA	p.T3826T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3826					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3826T(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTGGAAGCGTGAACTGGG	0.433																																					p.T3826T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G11478A	2						.						156.0	148.0	151.0					2																	21228262		2203	4300	6503	21081767	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11478G>A	2.37:g.21228262C>T			21081767	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21229227	21229227	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21229227G>T	ENST00000233242.1	-	26	10640	c.10513C>A	c.(10513-10515)Ctt>Att	p.L3505I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3505	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L3505I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCGAGAAAGAACCGAACCC	0.458																																					p.L3505I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10513A	2						.						105.0	106.0	105.0					2																	21229227		2203	4300	6503	21082732	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10513C>A	2.37:g.21229227G>T	ENSP00000233242:p.Leu3505Ile		21082732	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031670	0.08101	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.80480	-1.38	5.67	1.87	0.25490	.	0.847968	0.10288	N	0.692735	T	0.75852	0.3906	M	0.62723	1.935	0.37791	D	0.927356	B	0.26708	0.157	B	0.26094	0.066	T	0.68503	-0.5391	10	0.56958	D	0.05	.	6.2093	0.20619	0.2968:0.1253:0.578:0.0	.	3505	P04114	APOB_HUMAN	I	3505	ENSP00000233242:L3505I	ENSP00000233242:L3505I	L	-	1	0	APOB	21082732	0.002000	0.14202	0.277000	0.24703	0.025000	0.11179	-0.069000	0.11542	0.063000	0.16370	-0.137000	0.14449	CTT		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21230633	21230633	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21230633G>T	ENST00000233242.1	-	26	9234	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3036					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S3036Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAAAGAGAATTTTTCAA	0.408																																					p.S3036Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9107A	2						.						49.0	54.0	52.0					2																	21230633		2203	4299	6502	21084138	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9107C>A	2.37:g.21230633G>T	ENSP00000233242:p.Ser3036Tyr		21084138	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784583	0.49997	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39406	1.08	5.87	5.87	0.94306	.	0.224693	0.32175	N	0.006479	T	0.61949	0.2388	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	T	0.64812	-0.6319	10	0.87932	D	0	.	14.8744	0.70483	0.0:0.0:0.8228:0.1772	.	3036	P04114	APOB_HUMAN	Y	3036	ENSP00000233242:S3036Y	ENSP00000233242:S3036Y	S	-	2	0	APOB	21084138	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.728000	0.54991	2.780000	0.95670	0.655000	0.94253	TCT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21233605	21233605	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21233605G>T	ENST00000233242.1	-	26	6262	c.6135C>A	c.(6133-6135)gcC>gcA	p.A2045A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2045	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A2045A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTCTCAACGGCATCTCTCA	0.398																																					p.A2045A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6135A	2						.						99.0	107.0	104.0					2																	21233605		2203	4300	6503	21087110	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6135C>A	2.37:g.21233605G>T			21087110	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21234124	21234124	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21234124G>A	ENST00000233242.1	-	26	5743	c.5616C>T	c.(5614-5616)atC>atT	p.I1872I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1872					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.I1872I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCCAGCGATGTCTGTGT	0.473																																					p.I1872I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5616T	2						.						122.0	115.0	117.0					2																	21234124		2203	4300	6503	21087629	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5616C>T	2.37:g.21234124G>A			21087629	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21236251	21236251	+	Nonsense_Mutation	SNP	G	G	A	rs121918383		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21236251G>A	ENST00000233242.1	-	25	4124	c.3997C>T	c.(3997-3999)Cga>Tga	p.R1333*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1333					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R1333*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAACTCTCGAGATGGCAGA	0.473																																					p.R1333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3997T	2	GRCh37	CM880006	APOB	M	rs121918383	.						137.0	134.0	135.0					2																	21236251		2203	4300	6503	21089756	SO:0001587	stop_gained	338	exon25			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3997C>T	2.37:g.21236251G>A	ENSP00000233242:p.Arg1333*		21089756	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	39	7.824761	0.98510	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.53	3.6	0.41247	.	0.595809	0.15923	N	0.238037	.	.	.	.	.	.	0.20074	A	6.40381e-05	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0713	0.64861	0.0:0.0:0.6221:0.3778	.	.	.	.	X	1333	.	ENSP00000233242:R1333X	R	-	1	2	APOB	21089756	0.018000	0.18449	0.308000	0.25141	0.146000	0.21551	1.074000	0.30703	1.438000	0.47492	0.563000	0.77884	CGA		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21251356	21251356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21251356G>A	ENST00000233242.1	-	13	1799	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	APOB_ENST00000399256.4_Nonsense_Mutation_p.R558*	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	558	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R558*(1)|p.R558R(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCAGTCGCTTATCTCCC	0.448																																					p.R558X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1672T	2						.						118.0	113.0	115.0					2																	21251356		2203	4300	6503	21104861	SO:0001587	stop_gained	338	exon13			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1672C>T	2.37:g.21251356G>A	ENSP00000233242:p.Arg558*		21104861	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	40	8.018009	0.98613	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.69	3.83	0.44106	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9372	0.64032	0.0:0.0:0.5904:0.4096	.	.	.	.	X	558	.	ENSP00000233242:R558X	R	-	1	2	APOB	21104861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.327000	0.59247	0.819000	0.34492	0.655000	0.94253	CGA		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ACADL	33	broad.mit.edu	37	2	211085455	211085455	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211085455C>T	ENST00000233710.3	-	2	376	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	50					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)	p.R50Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AAAGATTCTTCGAATTCCTAT	0.353																																					p.R50Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G149A	2						.						82.0	85.0	84.0					2																	211085455		2203	4300	6503	210793700	SO:0001583	missense	33	exon2			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.149G>A	2.37:g.211085455C>T	ENSP00000233710:p.Arg50Gln		210793700	NM_001608	B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547013	0.96488	.	.	ENSG00000115361	ENST00000233710	D	0.98889	-5.21	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99937	1.1373	10	0.87932	D	0	.	19.821	0.96592	0.0:1.0:0.0:0.0	.	50	P28330	ACADL_HUMAN	Q	50	ENSP00000233710:R50Q	ENSP00000233710:R50Q	R	-	2	0	ACADL	210793700	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.761000	0.74945	2.683000	0.91414	0.655000	0.94253	CGA		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608	
CPS1	1373	broad.mit.edu	37	2	211421472	211421472	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211421472G>T	ENST00000233072.5	+	1	211	c.15G>T	c.(13-15)ttG>ttT	p.L5F	CPS1_ENST00000430249.2_Missense_Mutation_p.L11F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	5					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L5L(1)|p.L5F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CGAGGATTTTGACAGCTTTCA	0.343																																					p.L5F												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G15T	2						.						81.0	83.0	83.0					2																	211421472		2203	4298	6501	211129717	SO:0001583	missense	1373	exon1			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.15G>T	2.37:g.211421472G>T	ENSP00000233072:p.Leu5Phe		211129717	NM_001875	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032195	0.75504	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000544169;ENST00000536125	D;D;D;D;D	0.98075	-3.66;-3.66;-3.82;-4.7;-4.7	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.97430	0.9159	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.946;0.996	D	0.98552	1.0637	10	0.72032	D	0.01	-0.036	16.7312	0.85435	0.0:0.0:1.0:0.0	.	15;5	Q59HF8;P31327	.;CPSM_HUMAN	F	5;5;11;11;13;5;5;5	ENSP00000388496:L5F;ENSP00000430697:L5F;ENSP00000430644:L11F;ENSP00000402608:L11F;ENSP00000233072:L5F	ENSP00000233072:L5F	L	+	3	2	CPS1	211129717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.446000	0.66600	2.706000	0.92434	0.655000	0.94253	TTG		0.343	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu	37	2	211467030	211467030	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211467030G>T	ENST00000233072.5	+	16	2008	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D	CPS1_ENST00000451903.2_Missense_Mutation_p.E153D|CPS1_ENST00000430249.2_Missense_Mutation_p.E610D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	604	ATP-grasp 1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.E604D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAACAGAGAGACTTTGATGG	0.453																																					p.E153D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G459T	2						.						146.0	134.0	138.0					2																	211467030		2203	4300	6503	211175275	SO:0001583	missense	1373	exon6			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1812G>T	2.37:g.211467030G>T	ENSP00000233072:p.Glu604Asp		211175275	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	7.495	0.651548	0.14516	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97480	-4.4;-4.4;-4.4	5.63	3.6	0.41247	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	L	0.56124	1.755	0.42318	D	0.992244	B;B	0.19200	0.034;0.034	B;B	0.21360	0.034;0.034	D	0.90201	0.4257	10	0.33940	T	0.23	-12.8263	6.3556	0.21400	0.3264:0.0:0.6736:0.0	.	614;604	Q59HF8;P31327	.;CPSM_HUMAN	D	610;612;604;153	ENSP00000402608:E610D;ENSP00000233072:E604D;ENSP00000406136:E153D	ENSP00000233072:E604D	E	+	3	2	CPS1	211175275	1.000000	0.71417	0.998000	0.56505	0.021000	0.10359	0.723000	0.25939	1.403000	0.46800	-0.237000	0.12165	GAG		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
APOB	338	broad.mit.edu	37	2	21265342	21265342	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:21265342G>A	ENST00000233242.1	-	3	255	c.128C>T	c.(127-129)gCg>gTg	p.A43V	APOB_ENST00000399256.4_Missense_Mutation_p.A43V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	43	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A43V(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATCGGGTCGCATCTTCTAA	0.517											OREG0014485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A43V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C128T	2						.						121.0	104.0	110.0					2																	21265342		2203	4300	6503	21118847	SO:0001583	missense	338	exon3			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.128C>T	2.37:g.21265342G>A	ENSP00000233242:p.Ala43Val	747	21118847	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460587	0.63513	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.05649	5.67;3.41	5.18	5.18	0.71444	.	0.315283	0.26959	N	0.021631	T	0.12092	0.0294	L	0.36672	1.1	0.33807	D	0.627409	D	0.65815	0.995	P	0.51193	0.662	T	0.01488	-1.1342	10	0.72032	D	0.01	.	18.3477	0.90327	0.0:0.0:1.0:0.0	.	43	P04114	APOB_HUMAN	V	43	ENSP00000233242:A43V;ENSP00000382200:A43V	ENSP00000233242:A43V	A	-	2	0	APOB	21118847	0.991000	0.36638	0.798000	0.32154	0.215000	0.24574	4.627000	0.61276	2.793000	0.96121	0.655000	0.94253	GCG		0.517	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
CPS1	1373	broad.mit.edu	37	2	211473252	211473252	+	Missense_Mutation	SNP	G	G	A	rs571936934		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211473252G>A	ENST00000233072.5	+	19	2556	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q	CPS1_ENST00000451903.2_Missense_Mutation_p.R336Q|CPS1_ENST00000430249.2_Missense_Mutation_p.R793Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	787					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.R787Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ACATCTAGCCGAATTGGTAGC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18184	0.001		0.0	False		,,,				2504	0.0				p.R336Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	2						.						131.0	128.0	129.0					2																	211473252		2203	4300	6503	211181497	SO:0001583	missense	1373	exon9			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2360G>A	2.37:g.211473252G>A	ENSP00000233072:p.Arg787Gln		211181497	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	9.450	1.090331	0.20471	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.94613	-3.47;-3.47;-3.47	5.86	4.03	0.46877	ATP-grasp fold, subdomain 2 (1);	0.294801	0.33712	N	0.004624	D	0.83533	0.5275	N	0.05441	-0.05	0.26941	N	0.966256	B;B	0.17667	0.023;0.023	B;B	0.04013	0.001;0.001	T	0.69551	-0.5115	10	0.13108	T	0.6	-11.2815	5.7178	0.17970	0.2699:0.0:0.6007:0.1294	.	797;787	Q59HF8;P31327	.;CPSM_HUMAN	Q	793;795;787;336	ENSP00000402608:R793Q;ENSP00000233072:R787Q;ENSP00000406136:R336Q	ENSP00000233072:R787Q	R	+	2	0	CPS1	211181497	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.894000	0.39768	0.891000	0.36235	-0.143000	0.13931	CGA		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu	37	2	211518791	211518791	+	Nonsense_Mutation	SNP	G	G	T	rs146968493		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211518791G>T	ENST00000233072.5	+	29	3719	c.3523G>T	c.(3523-3525)Gaa>Taa	p.E1175*	CPS1_ENST00000451903.2_Nonsense_Mutation_p.E724*|CPS1_ENST00000430249.2_Nonsense_Mutation_p.E1181*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1175	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.E1175*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGGGGCCCGAGAAGTAGAAAT	0.428																																					p.E724X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2170T	2						.						127.0	127.0	127.0					2																	211518791		2203	4300	6503	211227036	SO:0001587	stop_gained	1373	exon19			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3523G>T	2.37:g.211518791G>T	ENSP00000233072:p.Glu1175*		211227036	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	43	10.071985	0.99330	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1101	20.3472	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	X	1181;1183;1175;724	.	ENSP00000233072:E1175X	E	+	1	0	CPS1	211227036	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.580000	0.90784	2.890000	0.99128	0.650000	0.86243	GAA		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu	37	2	211525281	211525281	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:211525281G>T	ENST00000233072.5	+	32	4025	c.3829G>T	c.(3829-3831)Gat>Tat	p.D1277Y	CPS1_ENST00000451903.2_Missense_Mutation_p.D826Y|CPS1_ENST00000430249.2_Missense_Mutation_p.D1283Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1277	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.D1277Y(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGACTTCATTGATGTGGCCAC	0.408																																					p.D826Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2476T	2						.						238.0	215.0	223.0					2																	211525281		2203	4300	6503	211233526	SO:0001583	missense	1373	exon22			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3829G>T	2.37:g.211525281G>T	ENSP00000233072:p.Asp1277Tyr		211233526	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040359	0.75732	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.62788	-0.0;-0.0;-0.0	5.98	5.1	0.69264	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.137596	0.64402	D	0.000004	T	0.73281	0.3567	L	0.53249	1.67	0.50039	D	0.999847	D;D	0.58970	0.984;0.984	D;D	0.63381	0.914;0.914	T	0.75975	-0.3128	10	0.66056	D	0.02	-15.4524	14.9496	0.71060	0.0682:0.0:0.9318:0.0	.	1287;1277	Q59HF8;P31327	.;CPSM_HUMAN	Y	1283;1285;1277;826	ENSP00000402608:D1283Y;ENSP00000233072:D1277Y;ENSP00000406136:D826Y	ENSP00000233072:D1277Y	D	+	1	0	CPS1	211233526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.067000	0.64357	1.531000	0.49152	0.655000	0.94253	GAT		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
ERBB4	2066	broad.mit.edu	37	2	212251749	212251749	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:212251749C>A	ENST00000342788.4	-	27	3620	c.3310G>T	c.(3310-3312)Gac>Tac	p.D1104Y	ERBB4_ENST00000436443.1_Missense_Mutation_p.D1088Y|ERBB4_ENST00000402597.1_Missense_Mutation_p.D1094Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1104					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D1104Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGCAGGAGTCATCAAAAATC	0.552										TSP Lung(8;0.080)																											p.D1104Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3310T	2						.						131.0	120.0	124.0					2																	212251749		2203	4300	6503	211959994	SO:0001583	missense	2066	exon27			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3310G>T	2.37:g.212251749C>A	ENSP00000342235:p.Asp1104Tyr		211959994	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777255	0.90195	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.78246	-1.15;-1.12;-1.16	5.73	5.73	0.89815	.	0.102685	0.64402	D	0.000004	D	0.84515	0.5489	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.76494	0.999;0.98;0.999;0.998	D;P;D;P	0.65874	0.939;0.804;0.939;0.87	D	0.85013	0.0907	10	0.66056	D	0.02	.	19.9017	0.96988	0.0:1.0:0.0:0.0	.	1078;1094;1088;1104	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	Y	1104;1088;1094	ENSP00000342235:D1104Y;ENSP00000403204:D1088Y;ENSP00000385565:D1094Y	ENSP00000342235:D1104Y	D	-	1	0	ERBB4	211959994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.093000	0.76937	2.707000	0.92482	0.561000	0.74099	GAC		0.552	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu	37	2	212251837	212251837	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:212251837T>C	ENST00000342788.4	-	27	3532	c.3222A>G	c.(3220-3222)gaA>gaG	p.E1074E	ERBB4_ENST00000436443.1_Silent_p.E1058E|ERBB4_ENST00000402597.1_Silent_p.E1064E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1074					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1074E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACACTCCTTGTTCAGCAGCAA	0.438										TSP Lung(8;0.080)																											p.E1074E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3222G	2						.						136.0	136.0	136.0					2																	212251837		2203	4300	6503	211960082	SO:0001819	synonymous_variant	2066	exon27			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3222A>G	2.37:g.212251837T>C			211960082	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	CCDS2394.1																																																																																				0.438	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu	37	2	212288964	212288964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:212288964C>A	ENST00000342788.4	-	23	3092	c.2782G>T	c.(2782-2784)Gaa>Taa	p.E928*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E928*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E918*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	928	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E928*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCAGGGATTTCTCGCGTTGGA	0.383										TSP Lung(8;0.080)																											p.E928X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2782T	2						.						109.0	107.0	108.0					2																	212288964		2203	4300	6503	211997209	SO:0001587	stop_gained	2066	exon23			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2782G>T	2.37:g.212288964C>A	ENSP00000342235:p.Glu928*		211997209	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	40	8.496525	0.98836	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	6.16	6.16	0.99307	.	0.093035	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	928;928;918	.	ENSP00000342235:E928X	E	-	1	0	ERBB4	211997209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA		0.383	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
SPAG16	79582	broad.mit.edu	37	2	214162055	214162055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:214162055G>T	ENST00000331683.5	+	3	348	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SPAG16_ENST00000413312.1_Nonsense_Mutation_p.E54*|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Nonsense_Mutation_p.E85*|SPAG16_ENST00000447990.1_Nonsense_Mutation_p.E85*|SPAG16_ENST00000432529.2_Nonsense_Mutation_p.E85*|SPAG16_ENST00000374309.3_Missense_Mutation_p.K30N	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	85					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E85*(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATGGCCCAAGAACAGGCTAC	0.373																																					p.E85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G253T	2						.						82.0	85.0	84.0					2																	214162055		2203	4300	6503	213870300	SO:0001587	stop_gained	79582	exon3			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.253G>T	2.37:g.214162055G>T	ENSP00000332592:p.Glu85*		213870300	NM_001025436	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Nonsense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.939956|6.939956	0.97948|0.97948	.|.	.|.	ENSG00000144451|ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990|ENST00000374309	.|T	.|0.59224	.|0.28	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.276731|.	0.28865|.	N|.	0.013898|.	.|T	.|0.59998	.|0.2235	.|.	.|.	.|.	0.27668|0.27668	N|N	0.946844|0.946844	.|P;P	.|0.40731	.|0.608;0.728	.|B;P	.|0.44359	.|0.261;0.447	.|T	.|0.60120	.|-0.7325	.|8	0.45353|0.72032	T|D	0.12|0.01	.|.	14.9666|14.9666	0.71198|0.71198	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|30;21	.|B4DYB5;Q8N0X2-2	.|.;.	X|N	85;85;54;85;85|30	.|ENSP00000363428:K30N	ENSP00000272898:E85X|ENSP00000363428:K30N	E|K	+|+	1|3	0|2	SPAG16|SPAG16	213870300|213870300	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.798000|0.798000	0.45092|0.45092	3.935000|3.935000	0.56560|0.56560	2.624000|2.624000	0.88883|0.88883	0.557000|0.557000	0.71058|0.71058	GAA|AAG		0.373	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
SPAG16	79582	broad.mit.edu	37	2	214204936	214204936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:214204936C>T	ENST00000331683.5	+	6	681	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SPAG16_ENST00000413312.1_Nonsense_Mutation_p.R165*|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Nonsense_Mutation_p.R196*|SPAG16_ENST00000447990.1_Nonsense_Mutation_p.R196*|SPAG16_ENST00000374309.3_Nonsense_Mutation_p.R102*	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	196					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R196*(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGATTTTCATCGAATGCATCA	0.284																																					p.R196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C586T	2						.						39.0	41.0	40.0					2																	214204936		2203	4296	6499	213913181	SO:0001587	stop_gained	79582	exon6			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.586C>T	2.37:g.214204936C>T	ENSP00000332592:p.Arg196*		213913181	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Nonsense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780015	0.96929	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	.	.	.	5.96	5.96	0.96718	.	0.136610	0.46145	D	0.000306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8098	0.57634	0.1632:0.8368:0.0:0.0	.	.	.	.	X	196;165;196;196;102	.	ENSP00000272898:R196X	R	+	1	2	SPAG16	213913181	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.106000	0.41835	2.832000	0.97577	0.655000	0.94253	CGA		0.284	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
VWC2L	402117	broad.mit.edu	37	2	215279262	215279262	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215279262C>A	ENST00000312504.5	+	2	1147	c.345C>A	c.(343-345)ttC>ttA	p.F115L	VWC2L_ENST00000427124.1_Missense_Mutation_p.F115L|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	115	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.F115L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TAAAAAACTTCTGTGAATATC	0.378																																					p.F115L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C345A	2						.						43.0	41.0	42.0					2																	215279262		1847	4093	5940	214987507	SO:0001583	missense	402117	exon2			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.345C>A	2.37:g.215279262C>A	ENSP00000308976:p.Phe115Leu		214987507	NM_001080500	A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	ENST00000312504.5	37	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570112	0.65765	.	.	ENSG00000174453	ENST00000312504;ENST00000427124	T;T	0.13196	2.61;2.61	5.51	3.17	0.36434	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	L	0.27053	0.805	0.46131	D	0.998888	P;P	0.52577	0.954;0.539	D;B	0.63597	0.916;0.372	T	0.09037	-1.0693	10	0.11794	T	0.64	-4.3458	9.0953	0.36636	0.0:0.1516:0.0:0.8484	.	115;115	B7ZW27;B2RUY7	.;VWC2L_HUMAN	L	115	ENSP00000308976:F115L;ENSP00000403779:F115L	ENSP00000308976:F115L	F	+	3	2	VWC2L	214987507	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.376000	0.52417	1.037000	0.40024	-0.302000	0.09304	TTC		0.378	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500	
BARD1	580	broad.mit.edu	37	2	215645739	215645739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215645739C>A	ENST00000260947.4	-	4	993	c.859G>T	c.(859-861)Gag>Tag	p.E287*	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Nonsense_Mutation_p.E143*	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	287					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E287*(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTGGAGACTCTATTTGCTCA	0.373									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	2						.						67.0	68.0	68.0					2																	215645739		2202	4298	6500	215353984	SO:0001587	stop_gained	580	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.859G>T	2.37:g.215645739C>A	ENSP00000260947:p.Glu287*		215353984	NM_000465	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Nonsense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	37	6.600408	0.97697	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	.	.	.	5.62	5.62	0.85841	.	0.557738	0.17972	N	0.155827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.2234	12.8695	0.57957	0.0:0.8838:0.0:0.1162	.	.	.	.	X	287;143	.	ENSP00000260947:E287X	E	-	1	0	BARD1	215353984	0.085000	0.21516	0.839000	0.33178	0.937000	0.57800	1.250000	0.32850	2.795000	0.96236	0.655000	0.94253	GAG		0.373	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
ABCA12	26154	broad.mit.edu	37	2	215802303	215802303	+	Missense_Mutation	SNP	C	C	A	rs543222287		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215802303C>A	ENST00000272895.7	-	51	7692	c.7473G>T	c.(7471-7473)aaG>aaT	p.K2491N	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.K2173N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2491					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.K2491N(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGTTATTCTTCAAGTGAA	0.383																																					p.K2491N	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7473T	2						.						153.0	139.0	144.0					2																	215802303		2203	4300	6503	215510548	SO:0001583	missense	26154	exon51			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7473G>T	2.37:g.215802303C>A	ENSP00000272895:p.Lys2491Asn		215510548	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	1.162	-0.643526	0.03531	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89939	-2.58;-2.59	5.79	0.0452	0.14229	.	0.074337	0.56097	D	0.000024	T	0.76399	0.3982	L	0.28014	0.82	0.50467	D	0.999872	B;B	0.18166	0.026;0.02	B;B	0.18871	0.023;0.021	T	0.57195	-0.7853	10	0.15066	T	0.55	.	6.0416	0.19738	0.1307:0.3364:0.0:0.5329	.	2491;2173	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	2491;2173	ENSP00000272895:K2491N;ENSP00000374312:K2173N	ENSP00000272895:K2491N	K	-	3	2	ABCA12	215510548	0.185000	0.23213	0.530000	0.27963	0.160000	0.22226	-0.507000	0.06352	-0.293000	0.08986	-0.302000	0.09304	AAG		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215809802	215809802	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.P2422P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363																																					p.P2422P	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7266A	2						.						117.0	101.0	106.0					2																	215809802		2203	4300	6503	215518047	SO:0001819	synonymous_variant	26154	exon49			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7266G>A	2.37:g.215809802C>T			215518047	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215821458	215821458	+	Silent	SNP	C	C	T	rs143237945	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215821458C>T	ENST00000272895.7	-	42	6381	c.6162G>A	c.(6160-6162)gcG>gcA	p.A2054A	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.A1736A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2054					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.A2054A(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTGAAAATCGCAATGATAC	0.358																																					p.A2054A	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6162A	2	GRCh37	CD051282	ABCA12	D	rs143237945	.	C	,	0,4406		0,0,2203	110.0	109.0	109.0		5208,6162	-2.1	1.0	2	dbSNP_134	109	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	ABCA12	NM_015657.3,NM_173076.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	1736/2278,2054/2596	215821458	3,13003	2203	4300	6503	215529703	SO:0001819	synonymous_variant	26154	exon42			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6162G>A	2.37:g.215821458C>T			215529703	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215823162	215823162	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215823162C>T	ENST00000272895.7	-	41	6175	c.5956G>A	c.(5956-5958)Gat>Aat	p.D1986N	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.D1668N|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1986					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.D1986N(3)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTAAAATATCGATTAAACTG	0.393																																					p.D1986N	Ovarian(66;664 1488 5121 34295)											.	.	3	Substitution - Missense(3)	large_intestine(1)|breast(1)|endometrium(1)	c.G5956A	2						.						114.0	95.0	101.0					2																	215823162		2203	4300	6503	215531407	SO:0001583	missense	26154	exon41			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5956G>A	2.37:g.215823162C>T	ENSP00000272895:p.Asp1986Asn		215531407	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631467	0.46944	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.86627	-2.15;-2.15	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.83723	0.5316	L	0.56280	1.765	0.80722	D	1	P;P	0.47034	0.889;0.5	B;B	0.39503	0.301;0.248	D	0.85797	0.1371	10	0.72032	D	0.01	.	13.0806	0.59112	0.0:0.9265:0.0:0.0735	.	1986;1668	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1986;1668	ENSP00000272895:D1986N;ENSP00000374312:D1668N	ENSP00000272895:D1986N	D	-	1	0	ABCA12	215531407	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.732000	0.55021	2.765000	0.95021	0.650000	0.86243	GAT		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215823777	215823777	+	Nonsense_Mutation	SNP	A	A	C	rs192684455		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215823777A>C	ENST00000272895.7	-	40	6129	c.5910T>G	c.(5908-5910)taT>taG	p.Y1970*	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Y1652*|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1970					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.Y1970*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCACTCCTGGATAAGGATGGC	0.358																																					p.Y1970X	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T5910G	2						.						242.0	211.0	221.0					2																	215823777		2203	4300	6503	215532022	SO:0001587	stop_gained	26154	exon40			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5910T>G	2.37:g.215823777A>C	ENSP00000272895:p.Tyr1970*		215532022	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	45	11.322394	0.99546	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.45	-1.03	0.10102	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9712	0.47441	0.5336:0.0:0.4664:0.0	.	.	.	.	X	1970;1652	.	ENSP00000272895:Y1970X	Y	-	3	2	ABCA12	215532022	0.197000	0.23362	0.997000	0.53966	0.923000	0.55619	-0.594000	0.05733	-0.104000	0.12154	-0.417000	0.06048	TAT		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215839566	215839566	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215839566C>T	ENST00000272895.7	-	35	5623	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1484T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1802					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.A1802T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGACAAGTGCTTCCGTGCTC	0.383																																					p.A1802T	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5404A	2						.						157.0	156.0	157.0					2																	215839566		2203	4300	6503	215547811	SO:0001583	missense	26154	exon35			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5404G>A	2.37:g.215839566C>T	ENSP00000272895:p.Ala1802Thr		215547811	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	1.002	-0.690751	0.03303	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88354	-2.37;-2.36	5.7	-0.0916	0.13660	.	1.087510	0.07052	N	0.832121	D	0.82632	0.5079	N	0.25647	0.755	0.09310	N	1	B;B	0.24317	0.101;0.016	B;B	0.29440	0.102;0.04	T	0.63139	-0.6704	10	0.14252	T	0.57	.	13.8854	0.63706	0.1014:0.4381:0.4605:0.0	.	1802;1484	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1802;1484	ENSP00000272895:A1802T;ENSP00000374312:A1484T	ENSP00000272895:A1802T	A	-	1	0	ABCA12	215547811	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.518000	0.22847	0.032000	0.15435	-0.188000	0.12872	GCA		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215846946	215846946	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215846946C>T	ENST00000272895.7	-	30	4763	c.4544G>A	c.(4543-4545)cGa>cAa	p.R1515Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1197Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1515	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.R1515Q(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCATATACTTCGGCGAGAACA	0.418																																					p.R1515Q	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4544A	2						.						153.0	141.0	145.0					2																	215846946		2203	4300	6503	215555191	SO:0001583	missense	26154	exon30			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4544G>A	2.37:g.215846946C>T	ENSP00000272895:p.Arg1515Gln		215555191	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674091	0.96764	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97232	-4.3;-4.3	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.207947	0.32868	N	0.005560	D	0.97736	0.9257	L	0.52573	1.65	0.80722	D	1	D;D	0.69078	0.991;0.997	P;D	0.64776	0.564;0.929	D	0.98085	1.0406	10	0.72032	D	0.01	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1515;1197	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	1515;1197	ENSP00000272895:R1515Q;ENSP00000374312:R1197Q	ENSP00000272895:R1515Q	R	-	2	0	ABCA12	215555191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGA		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215847097	215847097	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215847097C>A	ENST00000272895.7	-	30	4612	c.4393G>T	c.(4393-4395)Gat>Tat	p.D1465Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1147Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1465	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.D1465Y(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTCCAGTATCTTTTAAAGTC	0.338																																					p.D1465Y	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4393T	2						.						102.0	97.0	98.0					2																	215847097		2203	4300	6503	215555342	SO:0001583	missense	26154	exon30			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4393G>T	2.37:g.215847097C>A	ENSP00000272895:p.Asp1465Tyr		215555342	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472806	0.63737	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93859	-3.3;-3.3	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.161162	0.43579	D	0.000556	D	0.94364	0.8188	L	0.28740	0.885	0.80722	D	1	P;D	0.62365	0.942;0.991	D;P	0.64506	0.926;0.905	D	0.94890	0.8047	10	0.87932	D	0	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	1465;1147	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1465;1147	ENSP00000272895:D1465Y;ENSP00000374312:D1147Y	ENSP00000272895:D1465Y	D	-	1	0	ABCA12	215555342	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	7.651000	0.83577	2.836000	0.97738	0.655000	0.94253	GAT		0.338	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215866442	215866442	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215866442T>G	ENST00000272895.7	-	21	2922	c.2703A>C	c.(2701-2703)ttA>ttC	p.L901F	ABCA12_ENST00000389661.4_Missense_Mutation_p.L583F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	901					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L901F(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTGTTCTCTAATTTCAGTC	0.328																																					p.L901F	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2703C	2						.						99.0	95.0	96.0					2																	215866442		2202	4300	6502	215574687	SO:0001583	missense	26154	exon21			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2703A>C	2.37:g.215866442T>G	ENSP00000272895:p.Leu901Phe		215574687	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863308	0.51482	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.85556	-2.0;-2.0	5.77	0.687	0.18020	.	0.137832	0.33144	N	0.005223	D	0.90007	0.6880	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.959	D	0.88169	0.2863	10	0.54805	T	0.06	.	10.8105	0.46545	0.0:0.3148:0.0:0.6852	.	901;583	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	901;583	ENSP00000272895:L901F;ENSP00000374312:L583F	ENSP00000272895:L901F	L	-	3	2	ABCA12	215574687	0.993000	0.37304	0.999000	0.59377	0.860000	0.49131	0.142000	0.16096	0.132000	0.18615	0.459000	0.35465	TTA		0.328	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215875166	215875166	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:215875166G>A	ENST00000272895.7	-	18	2580	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ABCA12_ENST00000389661.4_Silent_p.D469D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	787					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.D787D(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTAATGATGTCTTTATAAA	0.378																																					p.D787D	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2361T	2						.						81.0	79.0	79.0					2																	215875166		2203	4300	6503	215583411	SO:0001819	synonymous_variant	26154	exon18			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2361C>T	2.37:g.215875166G>A			215583411	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
FN1	2335	broad.mit.edu	37	2	216238117	216238117	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:216238117C>T	ENST00000359671.1	-	38	6167	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K	FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K|FN1_ENST00000354785.4_Missense_Mutation_p.E2059K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K|FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000432072.2_Missense_Mutation_p.E1969K			P02751	FINC_HUMAN	fibronectin 1	1968	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E1968K(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTGTATATTCGGTTCCCGGT	0.468																																					p.E1878K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5632A	2						.						149.0	149.0	149.0					2																	216238117		2203	4300	6503	215946362	SO:0001583	missense	2335	exon37				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5902G>A	2.37:g.216238117C>T	ENSP00000352696:p.Glu1968Lys		215946362	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947772	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71953	0.3401	L	0.58302	1.8	0.24871	N	0.99228	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.996;0.999;1.0;1.0;0.999;0.999;0.999;1.0;1.0	D;D;D;D;P;D;D;D;D;D;D;D;D	0.87578	0.987;0.991;0.991;0.993;0.873;0.991;0.998;0.983;0.995;0.991;0.991;0.947;0.998	T	0.64162	-0.6472	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1759;1968;1969;2059;1878;1878;1968;1968;1969;1878;1878;2059;1968	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	K	1878;2059;1968;1878;2059;1969;1968;1968;1968;1968;1968;1878;1969;1878;685;87	ENSP00000394423:E1878K;ENSP00000323534:E2059K;ENSP00000338200:E1968K;ENSP00000350534:E1878K;ENSP00000346839:E2059K;ENSP00000352696:E1968K;ENSP00000265312:E1968K;ENSP00000273049:E1968K;ENSP00000349509:E1968K;ENSP00000410422:E1968K;ENSP00000415018:E1878K;ENSP00000399538:E1969K;ENSP00000348285:E1878K;ENSP00000416139:E685K;ENSP00000392565:E87K	ENSP00000265313:E1969K	E	-	1	0	FN1	215946362	0.998000	0.40836	0.976000	0.42696	0.499000	0.33736	3.925000	0.56484	2.941000	0.99782	0.655000	0.94253	GAA		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216240046	216240046	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:216240046C>T	ENST00000359671.1	-	37	6040	c.5775G>A	c.(5773-5775)ccG>ccA	p.P1925P	FN1_ENST00000345488.5_Silent_p.P1925P|FN1_ENST00000446046.1_Silent_p.P1925P|FN1_ENST00000336916.4_Silent_p.P1925P|FN1_ENST00000421182.1_Silent_p.P1835P|FN1_ENST00000346544.3_Silent_p.P1925P|FN1_ENST00000443816.1_Silent_p.P1835P|FN1_ENST00000357867.4_Silent_p.P1835P|FN1_ENST00000357009.2_Silent_p.P1925P|FN1_ENST00000354785.4_Silent_p.P2016P|FN1_ENST00000323926.6_Silent_p.P2016P|FN1_ENST00000356005.4_Silent_p.P1835P|FN1_ENST00000432072.2_Silent_p.P1926P			P02751	FINC_HUMAN	fibronectin 1	1925	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.P1925P(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGCACGTGGCGGCTGCCATG	0.537																																					p.P1835P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5505A	2						.						55.0	58.0	57.0					2																	216240046		2203	4300	6503	215948291	SO:0001819	synonymous_variant	2335	exon36				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5775G>A	2.37:g.216240046C>T			215948291	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.537	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216271901	216271901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:216271901C>A	ENST00000359671.1	-	18	2927	c.2662G>T	c.(2662-2664)Gaa>Taa	p.E888*	FN1_ENST00000345488.5_Nonsense_Mutation_p.E888*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E888*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E888*|FN1_ENST00000421182.1_Nonsense_Mutation_p.E888*|FN1_ENST00000346544.3_Nonsense_Mutation_p.E888*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E888*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E888*|FN1_ENST00000357009.2_Nonsense_Mutation_p.E888*|FN1_ENST00000354785.4_Nonsense_Mutation_p.E888*|FN1_ENST00000323926.6_Nonsense_Mutation_p.E888*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E888*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E888*			P02751	FINC_HUMAN	fibronectin 1	888	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E888*(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGTGTACTTTCTTGATTTTCT	0.418																																					p.E888X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2662T	2						.						176.0	168.0	171.0					2																	216271901		2203	4300	6503	215980146	SO:0001587	stop_gained	2335	exon18				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2662G>T	2.37:g.216271901C>A	ENSP00000352696:p.Glu888*		215980146	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	42	9.275169	0.99122	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.5204	0.95183	0.0:1.0:0.0:0.0	.	.	.	.	X	888	.	ENSP00000265313:E888X	E	-	1	0	FN1	215980146	1.000000	0.71417	0.999000	0.59377	0.293000	0.27360	7.487000	0.81328	2.598000	0.87819	0.655000	0.94253	GAA		0.418	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
SMARCAL1	50485	broad.mit.edu	37	2	217340037	217340037	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:217340037C>T	ENST00000357276.4	+	15	2620	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R764W	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	764	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> Q (in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage). {ECO:0000269|PubMed:11799392}.		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)	p.R764W(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGCTGAGCGGGAGGACCT	0.627									Schimke Immuno-Osseous Dysplasia																												p.R764W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2290T	2						.						107.0	90.0	96.0					2																	217340037		2203	4300	6503	217048282	SO:0001583	missense	50485	exon15	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2290C>T	2.37:g.217340037C>T	ENSP00000349823:p.Arg764Trp		217048282	NM_014140	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207495	0.58343	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.97480	-4.4;-4.4;-2.63	5.06	4.17	0.49024	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99143	0.9704	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98640	1.0675	10	0.87932	D	0	-16.7893	13.8807	0.63680	0.1535:0.8465:0.0:0.0	.	764	Q9NZC9	SMAL1_HUMAN	W	764;764;606	ENSP00000349823:R764W;ENSP00000350940:R764W;ENSP00000375974:R606W	ENSP00000349823:R764W	R	+	1	2	SMARCAL1	217048282	1.000000	0.71417	0.762000	0.31397	0.114000	0.19823	3.617000	0.54181	1.318000	0.45170	0.650000	0.86243	CGG		0.627	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2		
TNS1	7145	broad.mit.edu	37	2	218675026	218675026	+	Silent	SNP	C	C	T	rs201334905		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218675026C>T	ENST00000171887.4	-	29	5189	c.4737G>A	c.(4735-4737)tcG>tcA	p.S1579S	TNS1_ENST00000419504.1_Silent_p.S1565S|TNS1_ENST00000430930.1_Silent_p.S1558S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1579					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.S1579S(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)		AGCTATCTTTCGATTCATCTG	0.507													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20424	0.0		0.0	False		,,,				2504	0.0				p.S1579S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4737A	2						.						108.0	103.0	105.0					2																	218675026		2203	4300	6503	218383271	SO:0001819	synonymous_variant	7145	exon29			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.4737G>A	2.37:g.218675026C>T			218383271	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.507	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TNS1	7145	broad.mit.edu	37	2	218677939	218677939	+	Splice_Site	SNP	G	G	A	rs141774958		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218677939G>A	ENST00000171887.4	-	27	5093	c.4641C>T	c.(4639-4641)ttC>ttT	p.F1547F	TNS1_ENST00000419504.1_Splice_Site_p.F1533F|TNS1_ENST00000430930.1_Splice_Site_p.F1526F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1547	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.F1547F(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)		ACAGCTCACCGAAGTTTGGCT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.0				p.F1547F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4641T	2						.	G		1,4405	2.1+/-5.4	0,1,2202	50.0	52.0	51.0		4641	-6.6	0.9	2	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous-near-splice	TNS1	NM_022648.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1547/1736	218677939	1,13005	2203	4300	6503	218386184	SO:0001630	splice_region_variant	7145	exon27			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.4642+1C>T	2.37:g.218677939G>A			218386184	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.577	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	Silent
TNS1	7145	broad.mit.edu	37	2	218679651	218679651	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218679651C>A	ENST00000171887.4	-	25	4853	c.4401G>T	c.(4399-4401)gaG>gaT	p.E1467D	TNS1_ENST00000419504.1_Missense_Mutation_p.E1454D|TNS1_ENST00000430930.1_Missense_Mutation_p.E1446D	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1467	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.E1467D(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)		CCCTGGAGATCTCAGGCTTGT	0.537																																					p.E1467D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4401T	2						.						71.0	62.0	65.0					2																	218679651		2203	4300	6503	218387896	SO:0001583	missense	7145	exon25			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.4401G>T	2.37:g.218679651C>A	ENSP00000171887:p.Glu1467Asp		218387896	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	1.899	-0.453663	0.04540	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.36	3.52	0.40303	SH2 motif (4);	0.212926	0.47093	N	0.000251	T	0.70745	0.3259	N	0.01482	-0.84	0.80722	D	1	B;B;B	0.18013	0.025;0.025;0.0	B;B;B	0.20184	0.028;0.025;0.006	T	0.67201	-0.5730	10	0.02654	T	1	.	16.7825	0.85566	0.0:0.5001:0.4999:0.0	.	1467;1446;1454	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	D	1467;605;1454;1446	ENSP00000171887:E1467D;ENSP00000394171:E605D;ENSP00000408724:E1454D;ENSP00000406016:E1446D	ENSP00000171887:E1467D	E	-	3	2	TNS1	218387896	0.997000	0.39634	1.000000	0.80357	0.813000	0.45954	0.384000	0.20668	0.794000	0.33899	0.563000	0.77884	GAG		0.537	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TNS1	7145	broad.mit.edu	37	2	218682633	218682633	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218682633C>T	ENST00000171887.4	-	24	4562	c.4110G>A	c.(4108-4110)ccG>ccA	p.P1370P	TNS1_ENST00000419504.1_Silent_p.P1357P|TNS1_ENST00000430930.1_Silent_p.P1349P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1370					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.P1370P(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)		AGTCTGGTGACGGGGAGGTGG	0.667																																					p.P1370P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4110A	2						.						43.0	41.0	42.0					2																	218682633		2203	4300	6503	218390878	SO:0001819	synonymous_variant	7145	exon24			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.4110G>A	2.37:g.218682633C>T			218390878	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
TNS1	7145	broad.mit.edu	37	2	218745657	218745657	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218745657C>T	ENST00000171887.4	-	16	1470	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	TNS1_ENST00000310858.6_Missense_Mutation_p.D371N|TNS1_ENST00000419504.1_Missense_Mutation_p.D340N|TNS1_ENST00000430930.1_Missense_Mutation_p.D340N	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	340					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.D340N(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)		CTGAAGTTGTCGTAGGAGTCC	0.592																																					p.D340N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	2						.						145.0	124.0	131.0					2																	218745657		2203	4300	6503	218453902	SO:0001583	missense	7145	exon16			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.1018G>A	2.37:g.218745657C>T	ENSP00000171887:p.Asp340Asn		218453902	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.991759|3.991759	0.74703|0.74703	.|.	.|.	ENSG00000079308|ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858|ENST00000453356	D;D;D;D;D;D|.	0.95482|.	-2.79;-2.79;-2.79;-3.3;-3.69;-3.72|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.177663|.	0.48767|.	D|.	0.000166|.	T|T	0.69296|0.69296	0.3095|0.3095	L|L	0.54323|0.54323	1.7|1.7	0.47407|0.47407	D|D	0.999419|0.999419	D;B;B;B;B;B|.	0.67145|.	0.996;0.121;0.012;0.181;0.032;0.032|.	P;B;B;B;B;B|.	0.50617|.	0.646;0.016;0.006;0.027;0.008;0.005|.	T|T	0.66736|0.66736	-0.5848|-0.5848	10|5	0.66056|.	D|.	0.02|.	.|.	16.2227|16.2227	0.82267|0.82267	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	340;394;371;340;340;340|.	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55|.	.;.;.;TENS1_HUMAN;.;.|.	N|Q	340;340;340;465;408;371|115	ENSP00000171887:D340N;ENSP00000408724:D340N;ENSP00000406016:D340N;ENSP00000405460:D465N;ENSP00000400383:D408N;ENSP00000308321:D371N|.	ENSP00000171887:D340N|.	D|R	-|-	1|2	0|0	TNS1|TNS1	218453902|218453902	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.866000|0.866000	0.49608|0.49608	7.277000|7.277000	0.78572|0.78572	2.598000|2.598000	0.87819|0.87819	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
CXCR2	3579	broad.mit.edu	37	2	218999582	218999582	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:218999582C>A	ENST00000318507.2	+	3	485	c.58C>A	c.(58-60)Ctt>Att	p.L20I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	20					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.L20I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						AGGTGAAGATCTTAGTAATTA	0.398																																					p.L20I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58A	2						.						105.0	101.0	102.0					2																	218999582		2203	4300	6503	218707827	SO:0001583	missense	3579	exon3			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.58C>A	2.37:g.218999582C>A	ENSP00000319635:p.Leu20Ile		218707827	NM_001557	Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	6.419	0.445420	0.12164	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	3.89	-7.78	0.01223	.	.	.	.	.	T	0.20333	0.0489	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20306	-1.0279	9	0.22706	T	0.39	.	0.3198	0.00301	0.22:0.2242:0.2575:0.2982	.	20	P25025	CXCR2_HUMAN	I	20	ENSP00000413686:L20I;ENSP00000392348:L20I;ENSP00000319635:L20I;ENSP00000415148:L20I;ENSP00000392698:L20I	ENSP00000319635:L20I	L	+	1	0	CXCR2	218707827	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.921000	0.04008	-2.261000	0.00691	-1.528000	0.00924	CTT		0.398	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557	
ARPC2	10109	broad.mit.edu	37	2	219103552	219103552	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219103552A>G	ENST00000295685.10	+	5	695	c.434A>G	c.(433-435)cAt>cGt	p.H145R	ARPC2_ENST00000315717.5_Missense_Mutation_p.H145R|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	145					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)	p.H145R(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GCAGTTATCCATTATAGGGAT	0.438																																					p.H145R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A434G	2						.						75.0	72.0	73.0					2																	219103552		2203	4300	6503	218811797	SO:0001583	missense	10109	exon5			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.434A>G	2.37:g.219103552A>G	ENSP00000295685:p.His145Arg		218811797	NM_005731	Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754624	0.49362	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.75447	2.3	0.80722	D	1	B	0.17268	0.021	B	0.17979	0.02	T	0.65853	-0.6067	9	0.46703	T	0.11	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	145	O15144	ARPC2_HUMAN	R	145	.	ENSP00000295685:H145R	H	+	2	0	ARPC2	218811797	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	CAT		0.438	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731	
CATIP	375307	broad.mit.edu	37	2	219227480	219227480	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219227480C>A	ENST00000289388.3	+	6	514	c.485C>A	c.(484-486)tCt>tAt	p.S162Y	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		162					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S162Y(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGTGACTTCTTTCCCCTGG	0.607																																					p.S162Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	2						.						86.0	80.0	82.0					2																	219227480		2203	4300	6503	218935724	SO:0001583	missense	375307	exon6																														ENST00000289388.3:c.485C>A	2.37:g.219227480C>A	ENSP00000289388:p.Ser162Tyr		218935724	NM_198559		Missense_Mutation	SNP	ENST00000289388.3	37	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	C	0.725	-0.782205	0.02907	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.55	-6.99	0.01605	.	1.282060	0.05319	N	0.526265	T	0.26521	0.0648	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21861	-1.0233	9	0.19590	T	0.45	-3.4522	8.8131	0.34978	0.221:0.542:0.0:0.2371	.	162	Q7Z7H3	CB062_HUMAN	Y	162	.	ENSP00000289388:S162Y	S	+	2	0	C2orf62	218935724	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.626000	0.02035	-0.969000	0.03573	-0.302000	0.09304	TCT		0.607	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1		
TTLL4	9654	broad.mit.edu	37	2	219611862	219611862	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219611862A>C	ENST00000392102.1	+	9	2451	c.2111A>C	c.(2110-2112)aAg>aCg	p.K704T	TTLL4_ENST00000442769.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.K704T|TTLL4_ENST00000457313.1_Missense_Mutation_p.K539T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	704	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.K704T(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGACGCCAAGCTCCTGCGC	0.567																																					p.K704T	GBM(172;1818 2053 15407 20943 49753)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2111C	2						.						77.0	80.0	79.0					2																	219611862		2203	4300	6503	219320106	SO:0001583	missense	9654	exon9				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2111A>C	2.37:g.219611862A>C	ENSP00000375951:p.Lys704Thr		219320106	NM_014640	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.5|25.5	4.645693|4.645693	0.87958|0.87958	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000258398|ENST00000448224	T;T;T|.	0.08282|.	3.11;3.11;3.11|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64571|0.64571	0.2610|0.2610	L|L	0.49699|0.49699	1.58|1.58	0.58432|0.58432	D|D	0.999999|0.999999	D;P|.	0.67145|.	0.996;0.774|.	D;P|.	0.65684|.	0.937;0.684|.	T|T	0.61691|0.61691	-0.7011|-0.7011	10|5	0.40728|.	T|.	0.16|.	.|.	15.5295|15.5295	0.75942|0.75942	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	539;704|.	E9PH58;Q14679|.	.;TTLL4_HUMAN|.	T|R	539;704;704|36	ENSP00000393332:K539T;ENSP00000375951:K704T;ENSP00000258398:K704T|.	ENSP00000258398:K704T|.	K|S	+|+	2|1	0|0	TTLL4|TTLL4	219320106|219320106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.950000|4.950000	0.63603|0.63603	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.567	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
TTLL4	9654	broad.mit.edu	37	2	219618860	219618860	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219618860A>G	ENST00000392102.1	+	20	3688	c.3348A>G	c.(3346-3348)aaA>aaG	p.K1116K	TTLL4_ENST00000442769.1_Silent_p.K1052K|TTLL4_ENST00000258398.4_Silent_p.K1116K|TTLL4_ENST00000457313.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1116					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.K1116K(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCTCCAGAAAACAAAGCTCCT	0.483																																					p.K1116K	GBM(172;1818 2053 15407 20943 49753)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A3348G	2						.						165.0	174.0	171.0					2																	219618860		2203	4300	6503	219327104	SO:0001819	synonymous_variant	9654	exon20				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3348A>G	2.37:g.219618860A>G			219327104	NM_014640	A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	A	6.733	0.504065	0.12822	.	.	ENSG00000135912	ENST00000436668	.	.	.	4.62	-2.91	0.05631	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.27760	N	0.943864	.	.	.	.	.	.	T	0.31420	-0.9944	4	.	.	.	.	3.1681	0.06542	0.342:0.0:0.3387:0.3193	.	.	.	.	A	219	.	.	T	+	1	0	TTLL4	219327104	0.203000	0.23435	0.066000	0.19879	0.304000	0.27724	0.042000	0.13949	-0.253000	0.09514	-0.301000	0.09380	ACA		0.483	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
PRKAG3	53632	broad.mit.edu	37	2	219694751	219694751	+	Missense_Mutation	SNP	C	C	T	rs140696399	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219694751C>T	ENST00000529249.1	-	4	898	c.583G>A	c.(583-585)Gat>Aat	p.D195N	PRKAG3_ENST00000545803.1_Missense_Mutation_p.D11N|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D170N|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D195N			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	195					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.D195N(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GCCATGGCATCGTAGCAGGTG	0.602																																					p.D195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G583A	2						.	C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	83.0	73.0	76.0		583	4.3	0.9	2	dbSNP_134	76	0,8600		0,0,4300	yes	missense	PRKAG3	NM_017431.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	195/490	219694751	3,13003	2203	4300	6503	219402995	SO:0001583	missense	53632	exon4			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.583G>A	2.37:g.219694751C>T	ENSP00000436068:p.Asp195Asn		219402995	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051354	0.93740	6.81E-4	0.0	ENSG00000115592	ENST00000439262;ENST00000545803;ENST00000529249;ENST00000392098	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.18	4.29	0.51040	.	0.046010	0.85682	D	0.000000	D	0.93067	0.7793	L	0.34521	1.04	0.80722	D	1	D;D;D	0.56746	0.965;0.977;0.961	P;P;B	0.57960	0.83;0.481;0.288	D	0.93720	0.7032	10	0.87932	D	0	-17.9651	13.7012	0.62611	0.1555:0.8445:0.0:0.0	.	195;170;195	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	N	170;11;195;195	ENSP00000397133:D170N;ENSP00000444536:D11N;ENSP00000436068:D195N;ENSP00000375947:D195N	ENSP00000233944:D195N	D	-	1	0	PRKAG3	219402995	1.000000	0.71417	0.879000	0.34478	0.835000	0.47333	7.457000	0.80775	1.381000	0.46364	0.655000	0.94253	GAT		0.602	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
CCDC108	255101	broad.mit.edu	37	2	219892515	219892515	+	Nonsense_Mutation	SNP	G	G	A	rs531146350		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219892515G>A	ENST00000341552.5	-	13	2151	c.2068C>T	c.(2068-2070)Cga>Tga	p.R690*	CCDC108_ENST00000453220.1_Nonsense_Mutation_p.R690*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.R690*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.R679*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.R625*	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	690						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R690*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGACCTTCGCGTCCAGACC	0.637																																					p.R690X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2068T	2						.						74.0	68.0	70.0					2																	219892515		2203	4300	6503	219600759	SO:0001587	stop_gained	255101	exon13			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2068C>T	2.37:g.219892515G>A	ENSP00000340776:p.Arg690*		219600759	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Nonsense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738593	0.69304	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	.	.	.	5.18	1.28	0.21552	.	1.597030	0.03565	N	0.227746	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-2.202	2.0427	0.03553	0.2786:0.1229:0.4721:0.1263	.	.	.	.	X	690;690;690;166;679;625;624	.	ENSP00000340776:R690X	R	-	1	2	CCDC108	219600759	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.105000	0.15333	0.334000	0.23590	0.655000	0.94253	CGA		0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
CCDC108	255101	broad.mit.edu	37	2	219894208	219894208	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:219894208C>T	ENST00000341552.5	-	11	1650	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	CCDC108_ENST00000453220.1_Missense_Mutation_p.A523T|CCDC108_ENST00000441968.1_Missense_Mutation_p.A523T|CCDC108_ENST00000409865.3_Missense_Mutation_p.A512T|CCDC108_ENST00000410037.1_Missense_Mutation_p.A458T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	523						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A523T(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCATACGGGCCTTGCCCACC	0.602											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A523T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1567A	2						.						137.0	105.0	116.0					2																	219894208		2203	4300	6503	219602452	SO:0001583	missense	255101	exon11			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1567G>A	2.37:g.219894208C>T	ENSP00000340776:p.Ala523Thr	2262	219602452	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	7.136	0.580830	0.13686	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.06687	3.58;3.58;3.58;3.27;3.28	5.18	1.36	0.22044	.	0.904934	0.09260	N	0.826660	T	0.04092	0.0114	N	0.16743	0.435	0.20873	N	0.999834	B;B	0.17465	0.022;0.022	B;B	0.12156	0.007;0.007	T	0.47535	-0.9110	10	0.08381	T	0.77	-10.0864	3.2718	0.06884	0.3033:0.2853:0.0:0.4114	.	512;523	E9PG25;Q6ZU64	.;CC108_HUMAN	T	523;523;523;512;458;457	ENSP00000340776:A523T;ENSP00000413377:A523T;ENSP00000409117:A523T;ENSP00000386945:A512T;ENSP00000386258:A458T	ENSP00000340776:A523T	A	-	1	0	CCDC108	219602452	0.219000	0.23619	0.991000	0.47740	0.749000	0.42624	-0.617000	0.05584	0.067000	0.16545	-0.169000	0.13324	GCC		0.602	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
NHEJ1	79840	broad.mit.edu	37	2	220012382	220012382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220012382G>A	ENST00000356853.5	-	4	659	c.526C>T	c.(526-528)Cga>Tga	p.R176*	NHEJ1_ENST00000409720.1_Nonsense_Mutation_p.R176*	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	176					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R176*(2)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CTCTTACCTCGAATCAGCGTA	0.478								Non-homologous end-joining																													p.R176X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)	c.C526T	2						.						153.0	123.0	133.0					2																	220012382		2203	4300	6503	219720626	SO:0001587	stop_gained	79840	exon4			AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.526C>T	2.37:g.220012382G>A	ENSP00000349313:p.Arg176*		219720626	NM_024782	B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Nonsense_Mutation	SNP	ENST00000356853.5	37	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600224	0.87055	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000426304;ENST00000457600	.	.	.	5.51	3.61	0.41365	.	0.000000	0.64402	U	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6048	0.62041	0.0:0.0:0.7187:0.2813	.	.	.	.	X	176;176;96;176	.	ENSP00000349313:R176X	R	-	1	2	NHEJ1	219720626	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.275000	0.33144	1.298000	0.44778	0.650000	0.86243	CGA		0.478	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782	
SLC23A3	151295	broad.mit.edu	37	2	220026721	220026721	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220026721G>T	ENST00000409878.3	-	12	1775	c.1743C>A	c.(1741-1743)tcC>tcA	p.S581S	SLC23A3_ENST00000295738.7_Silent_p.S464S|SLC23A3_ENST00000396775.3_3'UTR|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Silent_p.S589S	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	581					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.S464S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCTCAGAGGAGCCTCCTT	0.587																																					p.S589S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1767A	2						.						43.0	45.0	44.0					2																	220026721		1902	4124	6026	219734965	SO:0001819	synonymous_variant	151295	exon12			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1743C>A	2.37:g.220026721G>T			219734965	NM_001144890	B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	CCDS46518.1																																																																																				0.587	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712	
ABCB6	10058	broad.mit.edu	37	2	220079117	220079117	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220079117G>A	ENST00000265316.3	-	7	1696	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	ABCB6_ENST00000439002.2_Silent_p.F414F	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	460	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.F460F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTACCGTCTCGAAGTTTAGCA	0.572																																					p.F460F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1380T	2						.						122.0	114.0	116.0					2																	220079117		2203	4300	6503	219787361	SO:0001819	synonymous_variant	10058	exon7			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1380C>T	2.37:g.220079117G>A			219787361	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430016	0.25726	.	.	ENSG00000115657	ENST00000295750	.	.	.	5.93	-5.64	0.02466	.	.	.	.	.	T	0.65995	0.2745	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68217	-0.5467	4	.	.	.	-15.7085	17.6284	0.88099	0.433:0.0:0.567:0.0	.	.	.	.	L	308	.	.	S	-	2	0	ABCB6	219787361	0.918000	0.31147	0.927000	0.36925	0.985000	0.73830	0.045000	0.14013	-0.968000	0.03578	-1.021000	0.02439	TCG		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
ABCB6	10058	broad.mit.edu	37	2	220082860	220082860	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220082860T>G	ENST00000265316.3	-	1	852	c.536A>C	c.(535-537)gAc>gCc	p.D179A	ABCB6_ENST00000439002.2_Missense_Mutation_p.D179A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	179					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.D179A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCCCAAGTCTGCCCTTGC	0.617																																					p.D179A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A536C	2						.						57.0	60.0	59.0					2																	220082860		2203	4300	6503	219791104	SO:0001583	missense	10058	exon1			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.536A>C	2.37:g.220082860T>G	ENSP00000265316:p.Asp179Ala		219791104	NM_005689	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.06|14.06	2.423362|2.423362	0.43020|0.43020	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750;ENST00000427013	D;D|.	0.88124|.	-2.26;-2.34|.	5.03|5.03	3.9|3.9	0.45041|0.45041	.|.	0.521522|.	0.21080|.	N|.	0.080509|.	T|T	0.40196|0.40196	0.1107|0.1107	L|L	0.46157|0.46157	1.445|1.445	0.20821|0.20821	N|N	0.999843|0.999843	B;B|.	0.21147|.	0.052;0.038|.	B;B|.	0.26969|.	0.075;0.05|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.42905|.	T|.	0.14|.	-17.3355|-17.3355	7.3201|7.3201	0.26523|0.26523	0.0:0.0766:0.1469:0.7765|0.0:0.0766:0.1469:0.7765	.|.	179;179|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	A|P	179|73;157	ENSP00000265316:D179A;ENSP00000394333:D179A|.	ENSP00000265316:D179A|.	D|T	-|-	2|1	0|0	ABCB6|ABCB6	219791104|219791104	0.612000|0.612000	0.27000|0.27000	0.961000|0.961000	0.40146|0.40146	0.959000|0.959000	0.62525|0.62525	1.394000|1.394000	0.34509|0.34509	2.241000|2.241000	0.73720|0.73720	0.482000|0.482000	0.46254|0.46254	GAC|ACT		0.617	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689	
ATG9A	79065	broad.mit.edu	37	2	220087385	220087385	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220087385G>T	ENST00000409618.1	-	11	2269	c.1830C>A	c.(1828-1830)tcC>tcA	p.S610S	AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000361242.4_Silent_p.S610S|ATG9A_ENST00000409422.1_Silent_p.S549S|ATG9A_ENST00000396761.2_Silent_p.S610S			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	610					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.S610S(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATTGTAAGGACTGGATAG	0.577																																					p.S610S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1830A	2						.						181.0	191.0	188.0					2																	220087385		2052	4198	6250	219795629	SO:0001819	synonymous_variant	79065	exon10			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1830C>A	2.37:g.220087385G>T			219795629	NM_024085	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	CCDS42820.1																																																																																				0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	
STK16	8576	broad.mit.edu	37	2	220111441	220111441	+	Missense_Mutation	SNP	G	G	A	rs548466076		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220111441G>A	ENST00000409638.3	+	3	321	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	STK16_ENST00000409516.3_Intron|STK16_ENST00000409260.1_Missense_Mutation_p.R95Q|STK16_ENST00000396738.2_Missense_Mutation_p.R50Q|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000486813.1_Intron|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409743.1_Missense_Mutation_p.R50Q|GLB1L_ENST00000356283.3_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R50Q(2)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGAAGCGAATCCTGTGT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.001		0.0	False		,,,				2504	0.0				p.R50Q	Pancreas(34;887 922 17165 36961 39622)											.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G149A	2						.						70.0	73.0	72.0					2																	220111441		2064	4205	6269	219819685	SO:0001583	missense	8576	exon3			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.149G>A	2.37:g.220111441G>A	ENSP00000386928:p.Arg50Gln		219819685	NM_001008910	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477716	0.96291	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.74106	2.05;2.05;-0.81;2.05	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.989;1.0	D	0.85246	0.1041	10	0.72032	D	0.01	-8.8762	20.3052	0.98627	0.0:0.0:1.0:0.0	.	50;50;95;50	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	Q	50;50;95;50	ENSP00000386928:R50Q;ENSP00000379964:R50Q;ENSP00000387156:R95Q;ENSP00000386553:R50Q	ENSP00000379964:R50Q	R	+	2	0	STK16	219819685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.552000	0.82192	2.808000	0.96608	0.655000	0.94253	CGA		0.567	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1		
TUBA4A	7277	broad.mit.edu	37	2	220116370	220116370	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220116370C>T	ENST00000248437.4	-	3	465	c.292G>A	c.(292-294)Gat>Aat	p.D98N	TUBA4A_ENST00000392088.2_Missense_Mutation_p.D83N|TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'UTR	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	98					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D98N(1)|p.D83N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	TTGGCAGCATCCTCTTTCCCA	0.527																																					p.D98N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G292A	2						.						118.0	103.0	108.0					2																	220116370		2203	4300	6503	219824614	SO:0001583	missense	7277	exon3			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.292G>A	2.37:g.220116370C>T	ENSP00000248437:p.Asp98Asn		219824614	NM_006000	A8MUB1|B3KNQ6|P05215	Missense_Mutation	SNP	ENST00000248437.4	37	CCDS2438.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333518	0.81801	.	.	ENSG00000127824	ENST00000248437;ENST00000392088;ENST00000427737;ENST00000456818;ENST00000447205;ENST00000425551	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	H	0.97131	3.945	0.80722	D	1	D	0.57899	0.981	D	0.74674	0.984	D	0.92991	0.6415	10	0.87932	D	0	.	18.6248	0.91333	0.0:1.0:0.0:0.0	.	98	P68366	TBA4A_HUMAN	N	98;83;83;121;83;100	ENSP00000248437:D98N;ENSP00000375938:D83N;ENSP00000408194:D83N;ENSP00000416992:D121N;ENSP00000396061:D83N;ENSP00000404740:D100N	ENSP00000248437:D98N	D	-	1	0	TUBA4A	219824614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.564000	0.82326	2.639000	0.89480	0.655000	0.94253	GAT		0.527	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	NM_006000	
OBSL1	23363	broad.mit.edu	37	2	220432655	220432655	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220432655A>C	ENST00000404537.1	-	3	1375	c.1319T>G	c.(1318-1320)gTc>gGc	p.V440G	OBSL1_ENST00000603926.1_Missense_Mutation_p.V440G|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.V440G|OBSL1_ENST00000373876.1_Missense_Mutation_p.V440G|OBSL1_ENST00000289656.3_Missense_Mutation_p.V27G|OBSL1_ENST00000373873.4_Missense_Mutation_p.V440G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	440					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.V440G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCTTCCAGGACGTCGAGCTT	0.632																																					p.V440G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1319G	2						.						30.0	34.0	32.0					2																	220432655		2053	4202	6255	220140899	SO:0001583	missense	23363	exon3			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1319T>G	2.37:g.220432655A>C	ENSP00000385636:p.Val440Gly		220140899	NM_001173431	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808138	0.50421	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	4.46	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90882	0.7135	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	D	0.91561	0.5264	9	0.51188	T	0.08	.	13.8907	0.63738	1.0:0.0:0.0:0.0	.	440;27;440	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	G	440;440;440;440;27	ENSP00000265318:V440G;ENSP00000385636:V440G;ENSP00000362983:V440G;ENSP00000362980:V440G;ENSP00000289656:V27G	ENSP00000265318:V440G	V	-	2	0	OBSL1	220140899	1.000000	0.71417	0.901000	0.35422	0.037000	0.13140	9.024000	0.93689	1.879000	0.54435	0.454000	0.30748	GTC		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
SLC4A3	6508	broad.mit.edu	37	2	220498016	220498016	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220498016A>G	ENST00000358055.3	+	10	1810	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	SLC4A3_ENST00000317151.3_Missense_Mutation_p.D433G|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D433G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D460G|SLC4A3_ENST00000373762.3_Missense_Mutation_p.D460G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	433					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.D460G(1)|p.D458fs*13(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGACAAGGACAGTGGCTTC	0.592																																					p.D433G												.	.	2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|breast(1)	c.A1298G	2						.						119.0	102.0	108.0					2																	220498016		2203	4300	6503	220206260	SO:0001583	missense	6508	exon10				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1298A>G	2.37:g.220498016A>G	ENSP00000350756:p.Asp433Gly		220206260	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985786	0.74589	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	4.99	4.99	0.66335	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.065016	0.64402	D	0.000016	T	0.59770	0.2218	N	0.19112	0.55	0.43160	D	0.994945	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.55872	-0.8072	10	0.25751	T	0.34	.	13.4364	0.61086	1.0:0.0:0.0:0.0	.	433;460	P48751;P48751-3	B3A3_HUMAN;.	G	433;433;460;460;433	ENSP00000350756:D433G;ENSP00000362865:D433G;ENSP00000273063:D460G;ENSP00000362867:D460G;ENSP00000314006:D433G	ENSP00000273063:D460G	D	+	2	0	SLC4A3	220206260	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.737000	0.74816	2.100000	0.63781	0.523000	0.50628	GAC		0.592	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
SLC4A3	6508	broad.mit.edu	37	2	220506402	220506402	+	Silent	SNP	C	C	T	rs369285267		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:220506402C>T	ENST00000358055.3	+	23	4163	c.3651C>T	c.(3649-3651)ttC>ttT	p.F1217F	SLC4A3_ENST00000317151.3_Silent_p.F1217F|SLC4A3_ENST00000373760.2_Silent_p.F1217F|SLC4A3_ENST00000273063.6_Silent_p.F1244F|SLC4A3_ENST00000373762.3_Silent_p.F1244F			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1217	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.F1244F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCAAACTTCGATGAGGATG	0.557																																					p.F1217F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3651T	2						.	C	,	0,4406		0,0,2203	188.0	138.0	155.0		3651,3732	-6.8	0.9	2		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1217/1233,1244/1260	220506402	1,13005	2203	4300	6503	220214646	SO:0001819	synonymous_variant	6508	exon23				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3651C>T	2.37:g.220506402C>T			220214646	NM_005070	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.557	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070	
EPHA4	2043	broad.mit.edu	37	2	222321462	222321462	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:222321462G>A	ENST00000281821.2	-	7	1515	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	EPHA4_ENST00000409938.1_Missense_Mutation_p.R492W|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441W|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R492W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCAGCTGTCCGAACTATACGA	0.468																																					p.R492W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T	2						.						126.0	111.0	116.0					2																	222321462		2203	4300	6503	222029706	SO:0001583	missense	2043	exon7			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1474C>T	2.37:g.222321462G>A	ENSP00000281821:p.Arg492Trp		222029706	NM_004438	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766604	0.69878	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.91	0.324	0.15898	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049258	0.85682	D	0.000000	T	0.76765	0.4033	M	0.89414	3.03	0.38114	D	0.937666	D	0.61697	0.99	D	0.64506	0.926	D	0.85008	0.0904	10	0.87932	D	0	.	16.2524	0.82492	0.0:0.0:0.3176:0.6823	.	492	P54764	EPHA4_HUMAN	W	492;492;492;441	ENSP00000281821:R492W;ENSP00000386276:R492W;ENSP00000386829:R492W;ENSP00000375923:R441W	ENSP00000281821:R492W	R	-	1	2	EPHA4	222029706	1.000000	0.71417	0.836000	0.33094	0.992000	0.81027	3.592000	0.53993	0.354000	0.24105	0.655000	0.94253	CGG		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3		
SGPP2	130367	broad.mit.edu	37	2	223386543	223386543	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:223386543T>C	ENST00000321276.7	+	3	522	c.436T>C	c.(436-438)Tcc>Ccc	p.S146P		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	146					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.S146P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCGTCCCTCCTCCCCTCCAGT	0.498																																					p.S146P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T436C	2						.						102.0	107.0	105.0					2																	223386543		2203	4300	6503	223094787	SO:0001583	missense	130367	exon3			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.436T>C	2.37:g.223386543T>C	ENSP00000315137:p.Ser146Pro		223094787	NM_152386	A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441336	0.83993	.	.	ENSG00000163082	ENST00000321276	T	0.75704	-0.96	4.83	4.83	0.62350	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.083567	0.50627	D	0.000114	D	0.83238	0.5211	M	0.69463	2.115	0.58432	D	0.999998	D	0.63046	0.992	D	0.64410	0.925	D	0.84666	0.0709	10	0.54805	T	0.06	-19.7105	14.4186	0.67168	0.0:0.0:0.0:1.0	.	146	Q8IWX5	SGPP2_HUMAN	P	146	ENSP00000315137:S146P	ENSP00000315137:S146P	S	+	1	0	SGPP2	223094787	1.000000	0.71417	0.990000	0.47175	0.876000	0.50452	5.026000	0.64103	1.809000	0.52856	0.533000	0.62120	TCC		0.498	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
SGPP2	130367	broad.mit.edu	37	2	223423432	223423432	+	Missense_Mutation	SNP	C	C	T	rs371268936		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:223423432C>T	ENST00000321276.7	+	5	1101	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	339					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.R339C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCTCTTGGTTCGTCAGCTTGT	0.468																																					p.R339C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1015T	2						.	C	CYS/ARG	0,4406		0,0,2203	125.0	115.0	119.0		1015	5.4	0.8	2		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	SGPP2	NM_152386.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	339/400	223423432	1,13005	2203	4300	6503	223131676	SO:0001583	missense	130367	exon5			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.1015C>T	2.37:g.223423432C>T	ENSP00000315137:p.Arg339Cys		223131676	NM_152386	A3KPB4|Q8N8Q6	Missense_Mutation	SNP	ENST00000321276.7	37	CCDS2453.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562992	0.86335	0.0	1.16E-4	ENSG00000163082	ENST00000321276	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84981	0.0888	9	0.87932	D	0	-14.0727	19.2014	0.93713	0.0:1.0:0.0:0.0	.	339	Q8IWX5	SGPP2_HUMAN	C	339	.	ENSP00000315137:R339C	R	+	1	0	SGPP2	223131676	1.000000	0.71417	0.846000	0.33378	0.954000	0.61252	6.485000	0.73625	2.533000	0.85409	0.655000	0.94253	CGT		0.468	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256856.2		
FARSB	10056	broad.mit.edu	37	2	223507716	223507716	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:223507716C>A	ENST00000281828.6	-	3	386	c.123G>T	c.(121-123)gaG>gaT	p.E41D	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	41					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.E41D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTATTTCCTTCTCAGATGTCT	0.328																																					p.E41D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G123T	2						.						44.0	43.0	43.0					2																	223507716		2203	4300	6503	223215960	SO:0001583	missense	10056	exon3			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.123G>T	2.37:g.223507716C>A	ENSP00000281828:p.Glu41Asp		223215960	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235846	0.39498	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.62	1.24	0.21308	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.63428	1.95	0.80722	D	1	B;B	0.24258	0.1;0.056	B;B	0.23275	0.045;0.045	T	0.45175	-0.9279	9	0.27785	T	0.31	-9.9217	9.6189	0.39710	0.0:0.5876:0.0:0.4124	.	41;41	A8K666;Q9NSD9	.;SYFB_HUMAN	D	41	.	ENSP00000281828:E41D	E	-	3	2	FARSB	223215960	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	0.415000	0.21181	0.319000	0.23209	0.563000	0.77884	GAG		0.328	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
SCG2	7857	broad.mit.edu	37	2	224463191	224463191	+	Missense_Mutation	SNP	C	C	A	rs144520828		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:224463191C>A	ENST00000305409.2	-	2	1042	c.810G>T	c.(808-810)gaG>gaT	p.E270D		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.E270D(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTCTATATTCTCTTTGCTGT	0.438																																					p.E270D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G810T	2						.	C	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	184.0	188.0	187.0		810	2.8	1.0	2	dbSNP_134	187	0,8600		0,0,4300	no	missense	SCG2	NM_003469.4	45	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	270/618	224463191	1,13005	2203	4300	6503	224171435	SO:0001583	missense	7857	exon2			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.810G>T	2.37:g.224463191C>A	ENSP00000304133:p.Glu270Asp		224171435	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194047	0.58017	2.27E-4	0.0	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.02140	4.43	5.56	2.81	0.32909	.	0.064020	0.64402	D	0.000013	T	0.09379	0.0231	M	0.68952	2.095	0.49798	D	0.999827	D	0.76494	0.999	D	0.72625	0.978	T	0.00583	-1.1659	10	0.66056	D	0.02	.	10.8438	0.46730	0.0:0.7976:0.0:0.2024	.	270	P13521	SCG2_HUMAN	D	270;130	ENSP00000304133:E270D	ENSP00000304133:E270D	E	-	3	2	SCG2	224171435	0.993000	0.37304	0.962000	0.40283	0.948000	0.59901	1.285000	0.33261	0.318000	0.23185	0.644000	0.83932	GAG		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SCG2	7857	broad.mit.edu	37	2	224463499	224463499	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:224463499G>A	ENST00000305409.2	-	2	734	c.502C>T	c.(502-504)Cct>Tct	p.P168S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P168S(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCATACATAGGAGGGAATTGC	0.403																																					p.P168S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	2						.						158.0	156.0	156.0					2																	224463499		2203	4300	6503	224171743	SO:0001583	missense	7857	exon2			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.502C>T	2.37:g.224463499G>A	ENSP00000304133:p.Pro168Ser		224171743	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	2.554	-0.303468	0.05495	.	.	ENSG00000171951	ENST00000305409	T	0.01495	4.83	5.5	4.61	0.57282	.	0.409529	0.27460	N	0.019276	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.43556	-0.9384	10	0.42905	T	0.14	.	9.9603	0.41693	0.0721:0.1397:0.7883:0.0	.	168	P13521	SCG2_HUMAN	S	168	ENSP00000304133:P168S	ENSP00000304133:P168S	P	-	1	0	SCG2	224171743	0.153000	0.22777	0.625000	0.29200	0.952000	0.60782	2.241000	0.43097	1.416000	0.47057	0.585000	0.79938	CCT		0.403	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
SCG2	7857	broad.mit.edu	37	2	224463666	224463666	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:224463666C>A	ENST00000305409.2	-	2	567	c.335G>T	c.(334-336)aGa>aTa	p.R112I		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R112I(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGTATTATTCTCATCCAGTC	0.443																																					p.R112I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335T	2						.						134.0	135.0	134.0					2																	224463666		2203	4300	6503	224171910	SO:0001583	missense	7857	exon2			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.335G>T	2.37:g.224463666C>A	ENSP00000304133:p.Arg112Ile		224171910	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843061	0.71488	.	.	ENSG00000171951	ENST00000305409;ENST00000421386;ENST00000433889	T;T;T	0.02067	4.47;4.47;4.47	5.5	0.536	0.17138	.	0.491758	0.21916	N	0.067234	T	0.04497	0.0123	L	0.50333	1.59	0.50813	D	0.999894	P	0.42203	0.773	P	0.49226	0.603	T	0.42120	-0.9470	10	0.87932	D	0	.	9.1987	0.37244	0.0:0.4606:0.0:0.5394	.	112	P13521	SCG2_HUMAN	I	112	ENSP00000304133:R112I;ENSP00000394702:R112I;ENSP00000415468:R112I	ENSP00000304133:R112I	R	-	2	0	SCG2	224171910	0.008000	0.16893	0.983000	0.44433	0.989000	0.77384	0.675000	0.25232	0.086000	0.17137	0.585000	0.79938	AGA		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
WDFY1	57590	broad.mit.edu	37	2	224760340	224760340	+	Silent	SNP	G	G	A	rs374832636		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:224760340G>A	ENST00000233055.4	-	7	708	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	202						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.V202V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGAGGCAGGCGACACTACCTA	0.512																																					p.V202V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	2						.	G		1,4405	2.1+/-5.4	0,1,2202	53.0	49.0	50.0		606	-0.3	0.1	2		50	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		202/411	224760340	1,13005	2203	4300	6503	224468584	SO:0001819	synonymous_variant	57590	exon7			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.606C>T	2.37:g.224760340G>A			224468584	NM_020830	Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	CCDS33387.1																																																																																				0.512	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830	
MRPL44	65080	broad.mit.edu	37	2	224824613	224824613	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:224824613G>A	ENST00000258383.3	+	2	611	c.542G>A	c.(541-543)aGt>aAt	p.S181N		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	181	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.S181N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTAACACTGAGTGAAGAATTC	0.483																																					p.S181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	2						.						118.0	115.0	116.0					2																	224824613		2203	4300	6503	224532857	SO:0001583	missense	65080	exon2			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.542G>A	2.37:g.224824613G>A	ENSP00000258383:p.Ser181Asn		224532857	NM_022915	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880909	0.72294	.	.	ENSG00000135900	ENST00000258383	T	0.47177	0.85	5.7	5.7	0.88788	Ribonuclease III (3);	0.079417	0.85682	D	0.000000	T	0.57286	0.2043	M	0.80847	2.515	0.53688	D	0.999975	P	0.48694	0.914	P	0.45998	0.5	T	0.57745	-0.7758	10	0.27785	T	0.31	-14.7313	17.3321	0.87268	0.0:0.0:1.0:0.0	.	181	Q9H9J2	RM44_HUMAN	N	181	ENSP00000258383:S181N	ENSP00000258383:S181N	S	+	2	0	MRPL44	224532857	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.317000	0.79018	2.683000	0.91414	0.650000	0.86243	AGT		0.483	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
DOCK10	55619	broad.mit.edu	37	2	225642996	225642996	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:225642996A>C	ENST00000258390.7	-	51	5728	c.5661T>G	c.(5659-5661)ttT>ttG	p.F1887L	DOCK10_ENST00000409592.3_Missense_Mutation_p.F1881L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1887	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1885L(1)|p.F394L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCTTCAAAAAAGCCCTATG	0.318																																					p.F1887L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5661G	2						.						46.0	41.0	42.0					2																	225642996		1802	4067	5869	225351240	SO:0001583	missense	55619	exon51			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5661T>G	2.37:g.225642996A>C	ENSP00000258390:p.Phe1887Leu		225351240	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.79|10.79	1.448982|1.448982	0.26074|0.26074	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.33216|.	1.42;1.43|.	6.16|6.16	3.82|3.82	0.43975|0.43975	.|.	0.048005|0.048005	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.52581|0.52581	0.1743|0.1743	L|L	0.46885|0.46885	1.475|1.475	0.45139|0.45139	D|D	0.998154|0.998154	B;D;P|.	0.58268|.	0.076;0.982;0.894|.	B;P;B|.	0.60541|.	0.113;0.876;0.358|.	T|T	0.37174|0.37174	-0.9717|-0.9717	10|7	0.87932|0.17832	D|T	0|0.49	.|.	8.3251|8.3251	0.32151|0.32151	0.786:0.0:0.214:0.0|0.786:0.0:0.214:0.0	.|.	1887;1881;549|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	L|V	1881;1887;394|37	ENSP00000386694:F1881L;ENSP00000258390:F1887L|.	ENSP00000258390:F1887L|ENSP00000437947:F37V	F|F	-|-	3|1	2|0	DOCK10|DOCK10	225351240|225351240	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.980000|0.980000	0.70556|0.70556	1.995000|1.995000	0.40767|0.40767	0.574000|0.574000	0.29417|0.29417	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.318	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DOCK10	55619	broad.mit.edu	37	2	225669928	225669928	+	Missense_Mutation	SNP	G	G	A	rs374472028		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:225669928G>A	ENST00000258390.7	-	36	4113	c.4046C>T	c.(4045-4047)tCg>tTg	p.S1349L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1343L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1349					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1347L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTACCGTACGAAATCGTTTT	0.363																																					p.S1349L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4046T	2						.	G	LEU/SER	1,3607		0,1,1803	92.0	88.0	89.0		4046	5.7	1.0	2		89	0,8122		0,0,4061	no	missense	DOCK10	NM_014689.2	145	0,1,5864	AA,AG,GG		0.0,0.0277,0.0085	probably-damaging	1349/2187	225669928	1,11729	1804	4061	5865	225378172	SO:0001583	missense	55619	exon36			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4046C>T	2.37:g.225669928G>A	ENSP00000258390:p.Ser1349Leu		225378172	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940208|2.940208	0.52972|0.52972	2.77E-4|2.77E-4	0.0|0.0	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.62498	.|4.65;0.02	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.064020	.|0.64402	.|D	.|0.000004	T|T	0.82084|0.82084	0.4960|0.4960	M|M	0.83384|0.83384	2.64|2.64	0.48288|0.48288	D|D	0.999628|0.999628	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.77557	.|0.99;0.978;0.934;0.922	D|D	0.83400|0.83400	0.0022|0.0022	5|10	.|0.87932	.|D	.|0	.|.	20.2825|20.2825	0.98528|0.98528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1349;203;1343;11	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	C|L	231|1343;1349	.|ENSP00000386694:S1343L;ENSP00000258390:S1349L	.|ENSP00000258390:S1349L	R|S	-|-	1|2	0|0	DOCK10|DOCK10	225378172|225378172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.107000|0.107000	0.19398|0.19398	9.144000|9.144000	0.94629|0.94629	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CGT|TCG		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DOCK10	55619	broad.mit.edu	37	2	225796382	225796382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:225796382C>A	ENST00000258390.7	-	2	194	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.E37*|DOCK10_ENST00000474102.1_5'UTR	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	43					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E43*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTAGGCTTTTCTTGCTGTAGA	0.393																																					p.E43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G127T	2						.						72.0	69.0	70.0					2																	225796382		1861	4101	5962	225504626	SO:0001587	stop_gained	55619	exon2			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.127G>T	2.37:g.225796382C>A	ENSP00000258390:p.Glu43*		225504626	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	36	5.852369	0.97030	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.59	4.71	0.59529	.	0.196730	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	14.2183	0.65807	0.0:0.9275:0.0:0.0725	.	.	.	.	X	37;43	.	ENSP00000258390:E43X	E	-	1	0	DOCK10	225504626	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.199000	0.58426	1.503000	0.48686	0.563000	0.77884	GAA		0.393	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
NYAP2	57624	broad.mit.edu	37	2	226378118	226378118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:226378118G>T	ENST00000272907.6	+	3	666	c.253G>T	c.(253-255)Gga>Tga	p.G85*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	85					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G85*(1)									AGGCCACGAAGGAAGTTACGT	0.478																																					p.G85X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G253T	2						.						74.0	76.0	75.0					2																	226378118		2010	4172	6182	226086362	SO:0001587	stop_gained	57624	exon3			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.253G>T	2.37:g.226378118G>T	ENSP00000272907:p.Gly85*		226086362	NM_020864	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	41	8.887037	0.98990	.	.	ENSG00000144460	ENST00000272907	.	.	.	5.41	5.41	0.78517	.	0.332930	0.27773	N	0.017914	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.6425	19.1985	0.93699	0.0:0.0:1.0:0.0	.	.	.	.	X	85	.	ENSP00000272907:G85X	G	+	1	0	KIAA1486	226086362	1.000000	0.71417	0.476000	0.27291	0.953000	0.61014	3.508000	0.53378	2.532000	0.85374	0.563000	0.77884	GGA		0.478	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
NYAP2	57624	broad.mit.edu	37	2	226446994	226446994	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:226446994C>T	ENST00000272907.6	+	4	1274	c.861C>T	c.(859-861)ttC>ttT	p.F287F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	287					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.F287F(1)									AATGTGACTTCGACCATCACA	0.572																																					p.F287F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	2						.						98.0	103.0	101.0					2																	226446994		2104	4215	6319	226155238	SO:0001819	synonymous_variant	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.861C>T	2.37:g.226446994C>T			226155238	NM_020864	A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.572	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
IRS1	3667	broad.mit.edu	37	2	227659779	227659779	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:227659779A>C	ENST00000305123.5	-	1	4696	c.3676T>G	c.(3676-3678)Tta>Gta	p.L1226V	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1226					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L1226V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TAGGCGCTTAAATCCTCACTT	0.597																																					p.L1226V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3676G	2						.						142.0	157.0	152.0					2																	227659779		2203	4300	6503	227368023	SO:0001583	missense	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3676T>G	2.37:g.227659779A>C	ENSP00000304895:p.Leu1226Val		227368023	NM_005544		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187959	0.38609	.	.	ENSG00000169047	ENST00000305123	T	0.61040	0.14	5.44	-5.16	0.02857	.	0.547119	0.14542	N	0.313240	T	0.39358	0.1075	L	0.39898	1.24	0.29030	N	0.88578	B	0.06786	0.001	B	0.04013	0.001	T	0.17745	-1.0359	10	0.30854	T	0.27	-0.5409	8.3921	0.32535	0.3339:0.2087:0.4574:0.0	.	1226	P35568	IRS1_HUMAN	V	1226	ENSP00000304895:L1226V	ENSP00000304895:L1226V	L	-	1	2	IRS1	227368023	0.137000	0.22531	0.961000	0.40146	0.996000	0.88848	0.094000	0.15107	-0.869000	0.04052	0.533000	0.62120	TTA		0.597	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
IRS1	3667	broad.mit.edu	37	2	227660928	227660928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:227660928G>A	ENST00000305123.5	-	1	3547	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	843					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R843*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TCCACCTTTCGAGGCAGATGG	0.662																																					p.R843X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2527T	2						.						39.0	48.0	45.0					2																	227660928		2201	4299	6500	227369172	SO:0001587	stop_gained	3667	exon1				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2527C>T	2.37:g.227660928G>A	ENSP00000304895:p.Arg843*		227369172	NM_005544		Nonsense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	49	15.112487	0.99822	.	.	ENSG00000169047	ENST00000305123	.	.	.	4.96	4.96	0.65561	.	0.207688	0.32028	N	0.006697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-5.6879	7.9258	0.29874	0.0808:0.0:0.7583:0.1608	.	.	.	.	X	843	.	ENSP00000304895:R843X	R	-	1	2	IRS1	227369172	0.595000	0.26857	1.000000	0.80357	0.992000	0.81027	3.741000	0.55090	2.573000	0.86826	0.650000	0.86243	CGA		0.662	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
RHBDD1	84236	broad.mit.edu	37	2	227729699	227729699	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:227729699G>T	ENST00000341329.3	+	2	532	c.290G>T	c.(289-291)aGa>aTa	p.R97I	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R97I	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	97					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R97I(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		AATCTAGAAAGAAGACTGGGA	0.428																																					p.R97I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290T	2						.						183.0	174.0	177.0					2																	227729699		2203	4300	6503	227437943	SO:0001583	missense	84236	exon4			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.290G>T	2.37:g.227729699G>T	ENSP00000344779:p.Arg97Ile		227437943	NM_001167608	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231476	0.79688	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.78	3.0	0.34707	Peptidase S54, rhomboid domain (1);	0.229922	0.48767	D	0.000175	T	0.37019	0.0988	M	0.84846	2.72	0.58432	D	0.999998	P;P	0.49090	0.718;0.919	P;P	0.55260	0.657;0.772	T	0.31971	-0.9924	10	0.66056	D	0.02	-15.3121	11.1118	0.48237	0.2012:0.0:0.7988:0.0	.	97;97	C9K011;Q8TEB9	.;RHBD1_HUMAN	I	97	ENSP00000400765:R97I;ENSP00000344779:R97I;ENSP00000375914:R97I;ENSP00000399694:R97I;ENSP00000388847:R97I	ENSP00000344779:R97I	R	+	2	0	RHBDD1	227437943	0.801000	0.28930	0.998000	0.56505	0.966000	0.64601	0.737000	0.26144	0.772000	0.33382	-0.244000	0.11960	AGA		0.428	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2		
COL4A4	1286	broad.mit.edu	37	2	227907847	227907847	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:227907847C>A	ENST00000396625.3	-	36	3550	c.3343G>T	c.(3343-3345)Gga>Tga	p.G1115*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.G1115*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1115	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G1115*(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGTGATCCTCTGGGCCCT	0.542																																					p.G1115X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3343T	2						.						47.0	43.0	44.0					2																	227907847		1880	4099	5979	227616091	SO:0001587	stop_gained	1286	exon36				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3343G>T	2.37:g.227907847C>A	ENSP00000379866:p.Gly1115*		227616091	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	41	8.722376	0.98929	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3905	0.83533	0.0:1.0:0.0:0.0	.	.	.	.	X	1115	.	ENSP00000328553:G1115X	G	-	1	0	COL4A4	227616091	0.986000	0.35501	0.965000	0.40720	0.254000	0.26022	3.478000	0.53158	2.677000	0.91161	0.655000	0.94253	GGA		0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A4	1286	broad.mit.edu	37	2	227942741	227942741	+	Missense_Mutation	SNP	C	C	T	rs374340855		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:227942741C>T	ENST00000396625.3	-	25	2063	c.1856G>A	c.(1855-1857)gGc>gAc	p.G619D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G619D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	619	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.G619D(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCTGGGGGGCCCAGAGGTCC	0.587																																					p.G619D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	2						.	C	ASP/GLY	1,3637		0,1,1818	31.0	34.0	33.0		1856	5.8	0.3	2		33	0,8164		0,0,4082	no	missense	COL4A4	NM_000092.4	94	0,1,5900	TT,TC,CC		0.0,0.0275,0.0085	probably-damaging	619/1691	227942741	1,11801	1819	4082	5901	227650985	SO:0001583	missense	1286	exon25				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1856G>A	2.37:g.227942741C>T	ENSP00000379866:p.Gly619Asp		227650985	NM_000092	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975393	0.53720	2.75E-4	0.0	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.82	5.82	0.92795	.	.	.	.	.	D	0.99722	0.9892	H	0.98802	4.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97326	0.9947	9	0.72032	D	0.01	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	619	P53420	CO4A4_HUMAN	D	619	ENSP00000379866:G619D;ENSP00000328553:G619D	ENSP00000328553:G619D	G	-	2	0	COL4A4	227650985	0.987000	0.35691	0.344000	0.25628	0.011000	0.07611	5.087000	0.64480	2.765000	0.95021	0.650000	0.86243	GGC		0.587	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A3	1285	broad.mit.edu	37	2	228147096	228147096	+	Missense_Mutation	SNP	C	C	T	rs374379775		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228147096C>T	ENST00000396578.3	+	32	2666	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	835	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.T835M(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAGGTAAAACGGGGCCAAAG	0.393																																					p.T835M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2504T	2						.	C	MET/THR	1,3631		0,1,1815	84.0	85.0	85.0		2504	1.1	0.0	2		85	0,8152		0,0,4076	no	missense	COL4A3	NM_000091.4	81	0,1,5891	TT,TC,CC		0.0,0.0275,0.0085	benign	835/1671	228147096	1,11783	1816	4076	5892	227855340	SO:0001583	missense	1285	exon32				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2504C>T	2.37:g.228147096C>T	ENSP00000379823:p.Thr835Met		227855340	NM_000091	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	2.562	-0.301619	0.05495	2.75E-4	0.0	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93426	-3.22	5.57	1.09	0.20402	.	1.055380	0.07337	N	0.880161	D	0.88164	0.6363	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.21452	0.056;0.056;0.003;0.004	B;B;B;B	0.12837	0.008;0.008;0.005;0.008	T	0.76094	-0.3085	10	0.49607	T	0.09	.	5.5052	0.16850	0.1544:0.5346:0.0:0.3109	.	835;835;835;835	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	M	835	ENSP00000379823:T835M	ENSP00000323334:T835M	T	+	2	0	COL4A3	227855340	0.097000	0.21791	0.012000	0.15200	0.011000	0.07611	-0.307000	0.08167	0.123000	0.18342	-1.814000	0.00607	ACG		0.393	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
MFF	56947	broad.mit.edu	37	2	228205062	228205062	+	Missense_Mutation	SNP	C	C	T	rs201498602		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228205062C>T	ENST00000353339.3	+	6	925	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	MFF_ENST00000337110.7_Missense_Mutation_p.R136C|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409616.1_Missense_Mutation_p.R136C|MFF_ENST00000349901.7_Missense_Mutation_p.R136C|MFF_ENST00000304593.9_Missense_Mutation_p.R136C|MFF_ENST00000524634.1_Missense_Mutation_p.R7C|MFF_ENST00000409565.1_Missense_Mutation_p.R136C|MFF_ENST00000354503.6_Missense_Mutation_p.R136C|MFF_ENST00000392059.1_Missense_Mutation_p.R162C	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	162					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.R162C(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGCTGTTCGCCAAAATGG	0.398																																					p.R162C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C484T	2						.	C	CYS/ARG	2,4404		0,2,2201	87.0	81.0	83.0		484	5.9	1.0	2		83	0,8600		0,0,4300	yes	missense	MFF	NM_020194.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	162/343	228205062	2,13004	2203	4300	6503	227913306	SO:0001583	missense	56947	exon6			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.484C>T	2.37:g.228205062C>T	ENSP00000302037:p.Arg162Cys		227913306	NM_020194	Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161242	0.94727	4.54E-4	0.0	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000530359;ENST00000531278;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.35973	1.28;1.28	5.95	5.95	0.96441	.	0.049048	0.85682	D	0.000000	T	0.61211	0.2329	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;P;D;D;D	0.87578	0.978;0.97;0.731;0.966;0.939;0.998	T	0.59637	-0.7417	10	0.66056	D	0.02	-7.6269	20.3932	0.98965	0.0:1.0:0.0:0.0	.	136;136;136;136;136;162	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	C	136;162;136;7;7;136;136;136;136;7;7;136;162;19	ENSP00000302037:R162C;ENSP00000375912:R162C	ENSP00000304898:R136C	R	+	1	0	MFF	227913306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.430000	0.73391	2.824000	0.97209	0.655000	0.94253	CGC		0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194	
DAW1	164781	broad.mit.edu	37	2	228750096	228750096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228750096G>T	ENST00000309931.2	+	2	153	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.E9*|DAW1_ENST00000373666.2_Nonsense_Mutation_p.E24*|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	24						cilium (GO:0005929)		p.E24*(1)									AAAACATGGAGAATTAAAGAC	0.348																																					p.E24X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G70T	2						.						108.0	115.0	113.0					2																	228750096		2203	4300	6503	228458340	SO:0001587	stop_gained	164781	exon2				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.70G>T	2.37:g.228750096G>T	ENSP00000311899:p.Glu24*		228458340	NM_178821	Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045894	0.75846	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	.	.	.	5.52	3.72	0.42706	.	0.741162	0.12710	N	0.445635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	9.2755	0.37696	0.0812:0.1535:0.7654:0.0	.	.	.	.	X	24;24;9;9	.	ENSP00000311899:E24X	E	+	1	0	WDR69	228458340	1.000000	0.71417	0.551000	0.28230	0.473000	0.32948	2.362000	0.44169	0.679000	0.31345	0.655000	0.94253	GAA		0.348	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
DAW1	164781	broad.mit.edu	37	2	228754634	228754634	+	Missense_Mutation	SNP	G	G	A	rs549809115		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228754634G>A	ENST00000309931.2	+	3	259	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.R44Q|DAW1_ENST00000373666.2_Missense_Mutation_p.R59Q|SNORA25_ENST00000607153.1_RNA	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	59						cilium (GO:0005929)		p.R59Q(1)									ACAGCTTCACGAACAGAGCAA	0.383																																					p.R59Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	2						.						90.0	87.0	88.0					2																	228754634		2203	4300	6503	228462878	SO:0001583	missense	164781	exon3				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.176G>A	2.37:g.228754634G>A	ENSP00000311899:p.Arg59Gln		228462878	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528176	0.44969	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000440997;ENST00000545118	T;T;T;T	0.52057	0.76;0.7;0.81;0.68	5.45	3.55	0.40652	.	0.535392	0.18630	N	0.135603	T	0.41190	0.1148	M	0.79475	2.455	0.09310	N	1	P	0.34934	0.476	B	0.19946	0.027	T	0.28713	-1.0035	10	0.23891	T	0.37	.	9.5675	0.39407	0.1811:0.0:0.8189:0.0	.	59	Q8N136	WDR69_HUMAN	Q	59;59;44;44	ENSP00000362770:R59Q;ENSP00000311899:R59Q;ENSP00000394853:R44Q;ENSP00000437887:R44Q	ENSP00000311899:R59Q	R	+	2	0	WDR69	228462878	0.769000	0.28531	0.004000	0.12327	0.994000	0.84299	4.413000	0.59795	1.344000	0.45657	0.650000	0.86243	CGA		0.383	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
DAW1	164781	broad.mit.edu	37	2	228758522	228758522	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228758522G>T	ENST00000309931.2	+	5	412	c.329G>T	c.(328-330)gGa>gTa	p.G110V	DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G95V|DAW1_ENST00000373666.2_Missense_Mutation_p.G110V	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	110						cilium (GO:0005929)		p.G110V(1)									TTTATCACAGGAAGCTATGAT	0.448																																					p.G110V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329T	2						.						102.0	93.0	96.0					2																	228758522		2203	4300	6503	228466766	SO:0001583	missense	164781	exon5				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.329G>T	2.37:g.228758522G>T	ENSP00000311899:p.Gly110Val		228466766	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504512	0.85176	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.71341	-0.56;-0.56;-0.56	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83890	0.0284	10	0.72032	D	0.01	.	18.4891	0.90841	0.0:0.0:1.0:0.0	.	110	Q8N136	WDR69_HUMAN	V	110;110;95	ENSP00000362770:G110V;ENSP00000311899:G110V;ENSP00000437887:G95V	ENSP00000311899:G110V	G	+	2	0	WDR69	228466766	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.659000	0.91116	2.692000	0.91855	0.650000	0.86243	GGA		0.448	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
SPHKAP	80309	broad.mit.edu	37	2	228846460	228846460	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228846460G>T	ENST00000392056.3	-	12	5122	c.5076C>A	c.(5074-5076)ctC>ctA	p.L1692L	SPHKAP_ENST00000344657.5_Silent_p.L1663L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1692						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L1711L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCAGTCAAAGAGACTCAGTC	0.448																																					p.L1692L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5076A	2						.						105.0	93.0	97.0					2																	228846460		2203	4300	6503	228554704	SO:0001819	synonymous_variant	80309	exon12				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.5076C>A	2.37:g.228846460G>T			228554704	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228881191	228881191	+	Missense_Mutation	SNP	G	G	A	rs368612893		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228881191G>A	ENST00000392056.3	-	7	4425	c.4379C>T	c.(4378-4380)tCg>tTg	p.S1460L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1460L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1460						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1460L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTGTCATTCGAATGCCCTTC	0.493																																					p.S1460L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4379T	2						.						125.0	123.0	124.0					2																	228881191		2203	4300	6503	228589435	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4379C>T	2.37:g.228881191G>A	ENSP00000375909:p.Ser1460Leu		228589435	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	9.628	1.135662	0.21123	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11063	2.82;2.81	5.43	-3.31	0.04988	.	2.794460	0.00929	N	0.002686	T	0.02267	0.0070	N	0.00419	-1.52	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.32929	-0.9888	10	0.14252	T	0.57	.	0.6371	0.00804	0.3277:0.1193:0.2806:0.2724	.	491;1460;1460	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1460	ENSP00000375909:S1460L;ENSP00000339886:S1460L	ENSP00000339886:S1460L	S	-	2	0	SPHKAP	228589435	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.443000	0.21644	-0.522000	0.06417	-0.290000	0.09829	TCG		0.493	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228882000	228882000	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228882000G>T	ENST00000392056.3	-	7	3616	c.3570C>A	c.(3568-3570)atC>atA	p.I1190I	SPHKAP_ENST00000344657.5_Silent_p.I1190I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1190						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.I1190I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCCTCAGTGATGCTCTCTG	0.567																																					p.I1190I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3570A	2						.						99.0	97.0	98.0					2																	228882000		2203	4300	6503	228590244	SO:0001819	synonymous_variant	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3570C>A	2.37:g.228882000G>T			228590244	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228883584	228883584	+	Silent	SNP	G	G	A	rs61752224		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228883584G>A	ENST00000392056.3	-	7	2032	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	SPHKAP_ENST00000344657.5_Silent_p.V662V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	662						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V662V(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCCTGACGACATTTTCTG	0.443																																					p.V662V												.	.	3	Substitution - coding silent(3)	prostate(2)|large_intestine(1)	c.C1986T	2						.						186.0	170.0	176.0					2																	228883584		2203	4300	6503	228591828	SO:0001819	synonymous_variant	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1986C>T	2.37:g.228883584G>A			228591828	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228886494	228886494	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228886494G>A	ENST00000392056.3	-	6	676	c.630C>T	c.(628-630)atC>atT	p.I210I	SPHKAP_ENST00000344657.5_Silent_p.I210I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	210						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.I210I(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGTCTTCCTCGATTGAAGATA	0.468																																					p.I210I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C630T	2						.						132.0	125.0	128.0					2																	228886494		2203	4300	6503	228594738	SO:0001819	synonymous_variant	80309	exon6				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.630C>T	2.37:g.228886494G>A			228594738	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228890124	228890124	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228890124A>C	ENST00000392056.3	-	5	473	c.427T>G	c.(427-429)Ttt>Gtt	p.F143V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.F143V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	143						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.F143V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAAACTTCAAAATCTGCCTGG	0.378																																					p.F143V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T427G	2						.						102.0	100.0	100.0					2																	228890124		2203	4300	6503	228598368	SO:0001583	missense	80309	exon5				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.427T>G	2.37:g.228890124A>C	ENSP00000375909:p.Phe143Val		228598368	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.536682	0.45176	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.93	3.59	0.41128	.	0.600564	0.19177	N	0.120782	T	0.07413	0.0187	N	0.19112	0.55	0.30488	N	0.771705	P;P	0.44090	0.483;0.826	B;P	0.45712	0.122;0.491	T	0.10683	-1.0619	10	0.18276	T	0.48	.	4.6096	0.12395	0.7086:0.0:0.1493:0.1421	.	143;143	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	143	ENSP00000375909:F143V;ENSP00000339886:F143V	ENSP00000339886:F143V	F	-	1	0	SPHKAP	228598368	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.752000	0.38349	1.074000	0.40909	0.533000	0.62120	TTT		0.378	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
SPHKAP	80309	broad.mit.edu	37	2	228973649	228973649	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:228973649G>A	ENST00000392056.3	-	3	191	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R49C	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	49						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R49C(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTGCTGCGAAGAACCTGG	0.413																																					p.R49C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C145T	2						.						58.0	61.0	60.0					2																	228973649		2203	4300	6503	228681893	SO:0001583	missense	80309	exon3				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.145C>T	2.37:g.228973649G>A	ENSP00000375909:p.Arg49Cys		228681893	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233443	0.22626	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.38077	1.16;1.16	5.55	0.466	0.16716	.	0.259855	0.38217	N	0.001764	T	0.14787	0.0357	N	0.04508	-0.205	0.42338	D	0.992323	B;B	0.15719	0.014;0.008	B;B	0.08055	0.003;0.003	T	0.05115	-1.0905	10	0.44086	T	0.13	-2.3443	7.349	0.26680	0.4683:0.0:0.5317:0.0	.	49;49	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	C	49	ENSP00000375909:R49C;ENSP00000339886:R49C	ENSP00000339886:R49C	R	-	1	0	SPHKAP	228681893	0.997000	0.39634	0.989000	0.46669	0.748000	0.42578	0.689000	0.25437	0.170000	0.19704	-0.150000	0.13652	CGC		0.413	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
DNER	92737	broad.mit.edu	37	2	230231704	230231704	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230231704G>A	ENST00000341772.4	-	12	2121	c.1987C>T	c.(1987-1989)Cgc>Tgc	p.R663C		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	663					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.R663C(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGGCTGATGCGGCAAATCCCC	0.547																																					p.R663C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1987T	2						.						61.0	51.0	54.0					2																	230231704		2203	4300	6503	229939948	SO:0001583	missense	92737	exon12			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1987C>T	2.37:g.230231704G>A	ENSP00000345229:p.Arg663Cys		229939948	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603660	0.87157	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86432	-2.12	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88677	0.3199	10	0.48119	T	0.1	.	14.8894	0.70597	0.0:0.0:0.8566:0.1434	.	663	Q8NFT8	DNER_HUMAN	C	663;381	ENSP00000345229:R663C	ENSP00000345229:R663C	R	-	1	0	DNER	229939948	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.386000	0.79775	2.760000	0.94817	0.551000	0.68910	CGC		0.547	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
DNER	92737	broad.mit.edu	37	2	230456341	230456341	+	Silent	SNP	C	C	T	rs146704189	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230456341C>T	ENST00000341772.4	-	2	674	c.540G>A	c.(538-540)ccG>ccA	p.P180P		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	180					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.P180P(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCTGTTTTCGGCTGCCAGG	0.483													C|||	62	0.0123802	0.0469	0.0	5008	,	,		19618	0.0		0.0	False		,,,				2504	0.0				p.P180P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G540A	2						.	C		234,4172	138.0+/-173.8	9,216,1978	76.0	73.0	74.0		540	-10.1	0.6	2	dbSNP_134	74	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	DNER	NM_139072.3		9,220,6274	TT,TC,CC		0.0465,5.3109,1.8299		180/738	230456341	238,12768	2203	4300	6503	230164585	SO:0001819	synonymous_variant	92737	exon2			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.540G>A	2.37:g.230456341C>T			230164585	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	CCDS33390.1																																																																																				0.483	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
TRIP12	9320	broad.mit.edu	37	2	230672555	230672555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230672555C>A	ENST00000283943.5	-	16	2399	c.2221G>T	c.(2221-2223)Gaa>Taa	p.E741*	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.E789*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.E444*	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	741					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.E741*(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAAATGCCTTCTTTTGGTAAA	0.373																																					p.E741X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2221T	2						.						114.0	94.0	101.0					2																	230672555		2203	4300	6503	230380799	SO:0001587	stop_gained	9320	exon16			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2221G>T	2.37:g.230672555C>A	ENSP00000283943:p.Glu741*		230380799	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Nonsense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	39	7.879227	0.98539	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1761	0.93603	0.0:1.0:0.0:0.0	.	.	.	.	X	741;444;789	.	ENSP00000283943:E741X	E	-	1	0	TRIP12	230380799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.602000	0.87976	0.467000	0.42956	GAA		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
TRIP12	9320	broad.mit.edu	37	2	230679861	230679861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230679861C>T	ENST00000283943.5	-	10	1719	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.R562Q|TRIP12_ENST00000389045.3_Missense_Mutation_p.R217Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	514					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.R514Q(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCAGAAGATCGAGGAAGTGC	0.373																																					p.R514Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1541A	2						.						154.0	159.0	157.0					2																	230679861		2203	4300	6503	230388105	SO:0001583	missense	9320	exon10			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1541G>A	2.37:g.230679861C>T	ENSP00000283943:p.Arg514Gln		230388105	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097025	0.94197	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.33865	1.39;1.39;1.39	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.053611	0.64402	D	0.000001	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.64042	0.921;0.921;0.921;0.921	T	0.58624	-0.7604	10	0.66056	D	0.02	.	19.8049	0.96527	0.0:1.0:0.0:0.0	.	520;217;562;514	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	Q	514;217;562	ENSP00000283943:R514Q;ENSP00000373697:R217Q;ENSP00000373696:R562Q	ENSP00000283943:R514Q	R	-	2	0	TRIP12	230388105	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.364000	0.79526	2.672000	0.90937	0.558000	0.71614	CGA		0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SLC16A14	151473	broad.mit.edu	37	2	230910609	230910609	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230910609G>T	ENST00000295190.4	-	4	1691	c.1233C>A	c.(1231-1233)atC>atA	p.I411I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	411						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.I411I(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCAGCGCACAGATGACCGCCA	0.498																																					p.I411I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1233A	2						.						92.0	81.0	85.0					2																	230910609		2203	4300	6503	230618853	SO:0001819	synonymous_variant	151473	exon4			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1233C>A	2.37:g.230910609G>T			230618853	NM_152527	A8KA08|Q53R92|Q96NI7	Silent	SNP	ENST00000295190.4	37	CCDS2473.1																																																																																				0.498	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
SLC16A14	151473	broad.mit.edu	37	2	230910902	230910902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:230910902G>A	ENST00000295190.4	-	4	1398	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R314*(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAAACATTCGATTTGTAAAT	0.453																																					p.R314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C940T	2						.						51.0	51.0	51.0					2																	230910902		2203	4300	6503	230619146	SO:0001587	stop_gained	151473	exon4			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.940C>T	2.37:g.230910902G>A	ENSP00000295190:p.Arg314*		230619146	NM_152527	A8KA08|Q53R92|Q96NI7	Nonsense_Mutation	SNP	ENST00000295190.4	37	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919851	0.73098	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	.	.	.	4.77	2.85	0.33270	.	0.108145	0.40144	N	0.001161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4538	0.55691	0.0:0.0:0.4596:0.5404	.	.	.	.	X	314	.	ENSP00000295190:R314X	R	-	1	2	SLC16A14	230619146	0.658000	0.27402	0.012000	0.15200	0.399000	0.30720	1.944000	0.40263	1.198000	0.43158	0.511000	0.50034	CGA		0.453	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527	
SP140	11262	broad.mit.edu	37	2	231101810	231101810	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231101810G>T	ENST00000392045.3	+	2	186	c.72G>T	c.(70-72)gaG>gaT	p.E24D	SP140_ENST00000417495.3_Missense_Mutation_p.E24D|SP140_ENST00000350136.5_Missense_Mutation_p.E4D|SP140_ENST00000343805.6_Missense_Mutation_p.E24D|SP140_ENST00000373645.3_Missense_Mutation_p.E24D|SP140_ENST00000486687.2_Missense_Mutation_p.E24D|SP140_ENST00000420434.3_Missense_Mutation_p.E24D|SP140_ENST00000544128.1_3'UTR	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	24	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E24D(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGTCGCAGAGATCCAGAACG	0.458																																					p.E24D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G72T	2						.						68.0	72.0	71.0					2																	231101810		2203	4300	6503	230810054	SO:0001583	missense	11262	exon2			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.72G>T	2.37:g.231101810G>T	ENSP00000375899:p.Glu24Asp		230810054	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	2.861	-0.236136	0.05944	.	.	ENSG00000079263	ENST00000537563;ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434;ENST00000373645	T;T;T;T;T;T	0.59364	0.49;0.75;0.56;0.27;0.49;0.78	3.67	-2.91	0.05631	Sp100 (1);	.	.	.	.	T	0.34687	0.0906	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001;0.0	T	0.15925	-1.0420	9	0.22109	T	0.4	-2.1523	1.8249	0.03119	0.2575:0.2552:0.3672:0.1201	.	24;24;24;24;24;24	E7EUR5;E7ESH9;E9PFJ6;Q13342;E7EX75;Q6NSG4	.;.;.;LY10_HUMAN;.;.	D	24;24;24;4;24;24;24;24;24	ENSP00000440107:E24D;ENSP00000345846:E4D;ENSP00000375899:E24D;ENSP00000342096:E24D;ENSP00000398210:E24D;ENSP00000362749:E24D	ENSP00000342096:E24D	E	+	3	2	SP140	230810054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.599000	0.02085	-1.136000	0.02892	-2.943000	0.00086	GAG		0.458	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP140	11262	broad.mit.edu	37	2	231101921	231101921	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231101921T>C	ENST00000392045.3	+	2	297	c.183T>C	c.(181-183)ttT>ttC	p.F61F	SP140_ENST00000417495.3_Silent_p.F61F|SP140_ENST00000350136.5_Silent_p.F41F|SP140_ENST00000343805.6_Silent_p.F61F|SP140_ENST00000373645.3_Silent_p.F61F|SP140_ENST00000486687.2_Silent_p.F61F|SP140_ENST00000420434.3_Silent_p.F61F|SP140_ENST00000544128.1_3'UTR	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	61	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F61F(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CAAGGCCATTTCCTTTCCTTA	0.458																																					p.F61F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T183C	2						.						90.0	89.0	89.0					2																	231101921		2203	4300	6503	230810165	SO:0001819	synonymous_variant	11262	exon2			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.183T>C	2.37:g.231101921T>C			230810165	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.458	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP140	11262	broad.mit.edu	37	2	231113604	231113604	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231113604C>A	ENST00000392045.3	+	9	1011	c.897C>A	c.(895-897)acC>acA	p.T299T	SP140_ENST00000417495.3_Silent_p.T246T|SP140_ENST00000350136.5_Silent_p.T229T|SP140_ENST00000343805.6_Silent_p.T273T|SP140_ENST00000486687.2_Silent_p.T223T|SP140_ENST00000420434.3_Silent_p.T299T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	299					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T299T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGCAGAGACCTTTGATCTAA	0.448																																					p.T299T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C897A	2						.						116.0	104.0	108.0					2																	231113604		1857	4091	5948	230821848	SO:0001819	synonymous_variant	11262	exon9			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.897C>A	2.37:g.231113604C>A			230821848	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.448	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP140	11262	broad.mit.edu	37	2	231174695	231174695	+	Silent	SNP	C	C	T	rs186449912	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000420434.3_Silent_p.C678C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	705					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C705C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGTTCTGTTGCGACACTTGTT	0.512													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0				p.C705C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2115T	2						.	C		3,4367	4.2+/-10.8	0,3,2182	179.0	192.0	188.0		2115	-4.4	0.0	2		188	4,8584	3.7+/-12.6	0,4,4290	no	coding-synonymous	SP140	NM_007237.4		0,7,6472	TT,TC,CC		0.0466,0.0686,0.054		705/868	231174695	7,12951	2185	4294	6479	230882939	SO:0001819	synonymous_variant	11262	exon23			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2115C>T	2.37:g.231174695C>T			230882939	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	CCDS42831.1																																																																																				0.512	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP140L	93349	broad.mit.edu	37	2	231193491	231193491	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231193491T>G	ENST00000415673.2	+	2	138	c.52T>G	c.(52-54)Tca>Gca	p.S18A	SP140L_ENST00000243810.6_Missense_Mutation_p.S18A|SP140L_ENST00000396563.4_Missense_Mutation_p.S18A|SP140L_ENST00000444636.1_Missense_Mutation_p.S18A|SP140_ENST00000486687.2_Intron	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	18						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S18A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						cggaggtgtttcacaagtagc	0.363																																					p.S18A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T52G	2						.						101.0	108.0	105.0					2																	231193491		2201	4300	6501	230901735	SO:0001583	missense	93349	exon2			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.52T>G	2.37:g.231193491T>G	ENSP00000397911:p.Ser18Ala		230901735	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	T	6.732	0.503812	0.12822	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.84730	-1.73;-1.35;-1.73;-1.89	2.06	-1.53	0.08611	.	.	.	.	.	T	0.74816	0.3766	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	P	0.57283	0.817	T	0.64664	-0.6354	9	0.02654	T	1	.	5.4675	0.16652	0.0:0.4418:0.0:0.5582	.	18	Q9H930-4	.	A	18	ENSP00000395195:S18A;ENSP00000397911:S18A;ENSP00000243810:S18A;ENSP00000379811:S18A	ENSP00000243810:S18A	S	+	1	0	SP140L	230901735	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.220000	0.02971	-0.426000	0.07360	0.418000	0.28097	TCA		0.363	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402	
SP140L	93349	broad.mit.edu	37	2	231223814	231223814	+	Missense_Mutation	SNP	G	G	A	rs367871968		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231223814G>A	ENST00000415673.2	+	4	492	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SP140L_ENST00000243810.6_Missense_Mutation_p.D136N|SP140L_ENST00000396563.4_Missense_Mutation_p.D136N|SP140L_ENST00000444636.1_Missense_Mutation_p.D136N|SP140L_ENST00000458341.1_Missense_Mutation_p.D49N	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	136	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D136N(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGAATACCCCGATTTAATTCA	0.363																																					p.D136N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	2						.	G	ASN/ASP	1,4403	2.1+/-5.4	0,1,2201	107.0	113.0	111.0		406	3.7	0.0	2		111	0,8600		0,0,4300	no	missense	SP140L	NM_138402.4	23	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	136/581	231223814	1,13003	2202	4300	6502	230932058	SO:0001583	missense	93349	exon4			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.406G>A	2.37:g.231223814G>A	ENSP00000397911:p.Asp136Asn		230932058	NM_138402	Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216394	0.58452	2.27E-4	0.0	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	3.71	3.71	0.42584	.	.	.	.	.	D	0.95465	0.8527	L	0.56124	1.755	0.09310	N	1	P;D	0.89917	0.945;1.0	P;D	0.64144	0.637;0.922	D	0.88993	0.3416	8	.	.	.	.	11.6901	0.51510	0.0:0.0:1.0:0.0	.	49;136	Q9H930-3;Q9H930-4	.;.	N	136;136;136;136;49	ENSP00000395195:D136N;ENSP00000397911:D136N;ENSP00000243810:D136N;ENSP00000379811:D136N;ENSP00000395223:D49N	.	D	+	1	0	SP140L	230932058	0.007000	0.16637	0.007000	0.13788	0.087000	0.18053	0.337000	0.19841	1.998000	0.58463	0.561000	0.74099	GAT		0.363	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402	
CAB39	51719	broad.mit.edu	37	2	231655640	231655640	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231655640C>T	ENST00000258418.5	+	3	597	c.168C>T	c.(166-168)ggC>ggT	p.G56G	CAB39_ENST00000484398.1_3'UTR|CAB39_ENST00000410084.3_Silent_p.G56G|CAB39_ENST00000409788.3_Silent_p.G56G	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	56					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)	p.G56G(1)		central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCTGTATGGCACAAATGAAA	0.403																																					p.G56G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	2						.						67.0	74.0	72.0					2																	231655640		2203	4300	6503	231363884	SO:0001819	synonymous_variant	51719	exon3			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.168C>T	2.37:g.231655640C>T			231363884	NM_001130850	A8K8L7	Silent	SNP	ENST00000258418.5	37	CCDS2478.1																																																																																				0.403	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256955.2	NM_016289	
PSMD1	5707	broad.mit.edu	37	2	231927233	231927233	+	Missense_Mutation	SNP	G	G	A	rs534841979		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231927233G>A	ENST00000308696.6	+	4	310	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	PSMD1_ENST00000409643.1_Missense_Mutation_p.E50K|PSMD1_ENST00000373635.4_Missense_Mutation_p.E50K	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	50					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.E50K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGTTTTATACGAAGATGAAGG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		16102	0.0		0.0	False		,,,				2504	0.001				p.E50K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148A	2						.						81.0	86.0	85.0					2																	231927233		2203	4299	6502	231635477	SO:0001583	missense	5707	exon4			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.148G>A	2.37:g.231927233G>A	ENSP00000309474:p.Glu50Lys		231635477	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778912	0.96929	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.31510	1.49;1.49;1.49	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.70487	0.852;0.969	T	0.66172	-0.5990	10	0.52906	T	0.07	-0.7263	20.8794	0.99867	0.0:0.0:1.0:0.0	.	50;50	Q99460;Q99460-2	PSMD1_HUMAN;.	K	50	ENSP00000309474:E50K;ENSP00000362738:E50K;ENSP00000386932:E50K	ENSP00000309474:E50K	E	+	1	0	PSMD1	231635477	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
PSMD1	5707	broad.mit.edu	37	2	231934808	231934808	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231934808C>T	ENST00000308696.6	+	6	742	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	PSMD1_ENST00000409643.1_Missense_Mutation_p.R194W|PSMD1_ENST00000373635.4_Missense_Mutation_p.R194W	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	194					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.R194W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TAAACAGTTTCGGAATAAAGT	0.313																																					p.R194W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C580T	2						.						79.0	80.0	80.0					2																	231934808		2203	4297	6500	231643052	SO:0001583	missense	5707	exon6			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.580C>T	2.37:g.231934808C>T	ENSP00000309474:p.Arg194Trp		231643052	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.462808|4.462808	0.84425|0.84425	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643|ENST00000444007	T;T;T|.	0.55588|.	0.51;0.51;0.51|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86527|0.86527	0.5954|0.5954	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.89522|0.89522	0.3779|0.3779	10|5	0.87932|.	D|.	0|.	-18.1046|-18.1046	14.9267|14.9267	0.70884|0.70884	0.143:0.857:0.0:0.0|0.143:0.857:0.0:0.0	.|.	194;194|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	W|L	194;194;200;194|93	ENSP00000309474:R194W;ENSP00000362738:R194W;ENSP00000386932:R194W|.	ENSP00000309474:R194W|.	R|S	+|+	1|2	2|0	PSMD1|PSMD1	231643052|231643052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.676000|4.676000	0.61627|0.61627	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	CGG|TCG		0.313	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
PSMD1	5707	broad.mit.edu	37	2	231944878	231944878	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:231944878G>T	ENST00000308696.6	+	12	1425	c.1263G>T	c.(1261-1263)caG>caT	p.Q421H	PSMD1_ENST00000409643.1_Missense_Mutation_p.Q421H|PSMD1_ENST00000373635.4_Missense_Mutation_p.Q421H	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	421					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.Q421H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGCATTACAGTTAATGGCAA	0.383																																					p.Q421H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1263T	2						.						121.0	108.0	112.0					2																	231944878		2203	4300	6503	231653122	SO:0001583	missense	5707	exon12			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1263G>T	2.37:g.231944878G>T	ENSP00000309474:p.Gln421His		231653122	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.445058	0.43429	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.33865	1.39;1.39;1.39	6.07	2.3	0.28687	Armadillo-type fold (1);	0.048379	0.85682	D	0.000000	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B;B	0.19817	0.002;0.039	B;B	0.17979	0.02;0.016	T	0.06356	-1.0831	10	0.54805	T	0.06	-12.1575	10.9933	0.47561	0.2482:0.0:0.7518:0.0	.	421;421	Q99460;Q99460-2	PSMD1_HUMAN;.	H	421	ENSP00000309474:Q421H;ENSP00000362738:Q421H;ENSP00000386932:Q421H	ENSP00000309474:Q421H	Q	+	3	2	PSMD1	231653122	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.238000	0.43070	0.907000	0.36646	-0.140000	0.14226	CAG		0.383	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
ARMC9	80210	broad.mit.edu	37	2	232070964	232070964	+	Missense_Mutation	SNP	C	C	A	rs376958829	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232070964C>A	ENST00000349938.4	+	2	207	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	5						extracellular vesicular exosome (GO:0070062)		p.L5M(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGGGACATTCTGGCTCATGA	0.353																																					p.L5M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C13A	2						.						119.0	117.0	118.0					2																	232070964		2203	4300	6503	231779208	SO:0001583	missense	80210	exon2			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.13C>A	2.37:g.232070964C>A	ENSP00000258417:p.Leu5Met		231779208	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994842	0.54041	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.50813	2.15;0.73	5.2	2.44	0.29823	.	0.000000	0.64402	D	0.000003	T	0.55609	0.1931	L	0.51422	1.61	0.36440	D	0.865435	D	0.76494	0.999	D	0.71656	0.974	T	0.58769	-0.7578	10	0.41790	T	0.15	-11.967	7.5057	0.27542	0.0:0.6608:0.0:0.3392	.	5	Q7Z3E5	ARMC9_HUMAN	M	5	ENSP00000258417:L5M;ENSP00000387391:L5M	ENSP00000258417:L5M	L	+	1	2	ARMC9	231779208	0.875000	0.30112	0.806000	0.32338	0.882000	0.50991	0.615000	0.24329	0.606000	0.29965	0.655000	0.94253	CTG		0.353	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	
ARMC9	80210	broad.mit.edu	37	2	232091492	232091492	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232091492G>T	ENST00000349938.4	+	7	797	c.603G>T	c.(601-603)gaG>gaT	p.E201D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	201						extracellular vesicular exosome (GO:0070062)		p.E201D(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CCCAGAAGGAGAATGGACAAA	0.418																																					p.E201D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G603T	2						.						101.0	101.0	101.0					2																	232091492		2203	4300	6503	231799736	SO:0001583	missense	80210	exon7			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.603G>T	2.37:g.232091492G>T	ENSP00000258417:p.Glu201Asp		231799736	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688928	0.68271	.	.	ENSG00000135931	ENST00000349938;ENST00000359743	T	0.18502	2.21	5.86	3.13	0.36017	.	0.226336	0.45361	D	0.000364	T	0.17704	0.0425	L	0.59436	1.845	0.37790	D	0.927331	B	0.19331	0.035	B	0.25759	0.063	T	0.06232	-1.0838	10	0.30078	T	0.28	-31.676	9.9154	0.41430	0.2146:0.0:0.7854:0.0	.	201	Q7Z3E5	ARMC9_HUMAN	D	201	ENSP00000258417:E201D	ENSP00000258417:E201D	E	+	3	2	ARMC9	231799736	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	1.813000	0.38962	0.401000	0.25424	-0.142000	0.14014	GAG		0.418	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	
B3GNT7	93010	broad.mit.edu	37	2	232262827	232262827	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232262827G>A	ENST00000287590.5	+	2	658	c.397G>A	c.(397-399)Gat>Aat	p.D133N	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	133					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.D133N(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GTGCAGGGGCGATGTCTACCT	0.662																																					p.D133N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	2						.						23.0	25.0	24.0					2																	232262827		2038	4187	6225	231971071	SO:0001583	missense	93010	exon2			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.397G>A	2.37:g.232262827G>A	ENSP00000287590:p.Asp133Asn		231971071	NM_145236	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673598	0.29693	.	.	ENSG00000156966	ENST00000287590	T	0.37058	1.22	5.27	4.39	0.52855	.	0.337134	0.34986	N	0.003526	T	0.37892	0.1020	M	0.68952	2.095	0.40439	D	0.98002	B	0.12013	0.005	B	0.08055	0.003	T	0.21690	-1.0238	10	0.30854	T	0.27	.	15.0425	0.71803	0.0:0.1427:0.8573:0.0	.	133	Q8NFL0	B3GN7_HUMAN	N	133	ENSP00000287590:D133N	ENSP00000287590:D133N	D	+	1	0	B3GNT7	231971071	0.932000	0.31603	0.046000	0.18839	0.051000	0.14879	2.372000	0.44257	1.196000	0.43129	0.655000	0.94253	GAT		0.662	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236	
B3GNT7	93010	broad.mit.edu	37	2	232263248	232263248	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232263248G>T	ENST00000287590.5	+	2	1079	c.818G>T	c.(817-819)cGg>cTg	p.R273L		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	273					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.R273L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CAGCACGCTCGGCCCATTCGC	0.602																																					p.R273L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818T	2						.						42.0	45.0	44.0					2																	232263248		2046	4183	6229	231971492	SO:0001583	missense	93010	exon2			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.818G>T	2.37:g.232263248G>T	ENSP00000287590:p.Arg273Leu		231971492	NM_145236	B3KWY4|B7WNP0	Missense_Mutation	SNP	ENST00000287590.5	37	CCDS46540.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020810	0.35606	.	.	ENSG00000156966	ENST00000287590	T	0.42513	0.97	5.19	3.38	0.38709	.	0.226554	0.43260	D	0.000583	T	0.35595	0.0937	L	0.43646	1.37	0.32668	N	0.517203	P	0.40602	0.723	B	0.42386	0.386	T	0.44802	-0.9304	10	0.24483	T	0.36	.	10.2746	0.43501	0.1601:0.0:0.8399:0.0	.	273	Q8NFL0	B3GN7_HUMAN	L	273	ENSP00000287590:R273L	ENSP00000287590:R273L	R	+	2	0	B3GNT7	231971492	1.000000	0.71417	0.691000	0.30163	0.993000	0.82548	3.058000	0.49939	1.187000	0.43000	0.655000	0.94253	CGG		0.602	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236	
NCL	4691	broad.mit.edu	37	2	232323764	232323764	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232323764G>T	ENST00000322723.4	-	7	1353	c.1113C>A	c.(1111-1113)gtC>gtA	p.V371V	SNORD82_ENST00000365530.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	371	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.V371V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CATTGCCAAAGACTTTCAAAC	0.388																																					p.V371V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1113A	2						.						185.0	158.0	167.0					2																	232323764		2203	4300	6503	232032008	SO:0001819	synonymous_variant	4691	exon7				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1113C>A	2.37:g.232323764G>T			232032008	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.388	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
DIS3L2	129563	broad.mit.edu	37	2	232894729	232894729	+	Missense_Mutation	SNP	G	G	A	rs372013568		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232894729G>A	ENST00000409307.1	+	4	305	c.305G>A	c.(304-306)cGt>cAt	p.R102H	DIS3L2_ENST00000273009.6_Missense_Mutation_p.R102H|DIS3L2_ENST00000409401.3_Missense_Mutation_p.R102H|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.R102H|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R102H					DIS3 like 3'-5' exoribonuclease 2									p.R102H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GTTGTTGCTCGTAATAGAGCC	0.383																																					p.R102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	2						.						184.0	177.0	179.0					2																	232894729		1848	4099	5947	232602973	SO:0001583	missense	129563	exon5			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.305G>A	2.37:g.232894729G>A	ENSP00000386799:p.Arg102His		232602973	NM_152383		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196379	0.94960	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80701	0.4673	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.972;0.998	D	0.83716	0.0190	10	0.87932	D	0	-10.2827	19.4689	0.94954	0.0:0.0:1.0:0.0	.	102;102	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	H	102	ENSP00000273009:R102H;ENSP00000315569:R102H;ENSP00000353584:R102H;ENSP00000386594:R102H;ENSP00000390467:R102H;ENSP00000386799:R102H	ENSP00000273009:R102H	R	+	2	0	DIS3L2	232602973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.329000	0.90017	2.604000	0.88044	0.557000	0.71058	CGT		0.383	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
DIS3L2	129563	broad.mit.edu	37	2	232952211	232952211	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232952211G>T	ENST00000409307.1	+	5	381	c.381G>T	c.(379-381)gaG>gaT	p.E127D	DIS3L2_ENST00000273009.6_Missense_Mutation_p.E127D|DIS3L2_ENST00000409401.3_Missense_Mutation_p.E127D|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.E127D|DIS3L2_ENST00000325385.7_Missense_Mutation_p.E127D					DIS3 like 3'-5' exoribonuclease 2									p.E127D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTAAACCAGAGAGCAATGACA	0.393																																					p.E127D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	2						.						46.0	47.0	47.0					2																	232952211		1862	4113	5975	232660455	SO:0001583	missense	129563	exon6			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.381G>T	2.37:g.232952211G>T	ENSP00000386799:p.Glu127Asp		232660455	NM_152383		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559781	0.27827	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000441279;ENST00000431466;ENST00000409307	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.65	0.588	0.17445	.	0.234947	0.33670	N	0.004670	T	0.22742	0.0549	N	0.16233	0.39	0.25466	N	0.98788	B;B	0.10296	0.0;0.003	B;B	0.13407	0.0;0.009	T	0.06445	-1.0826	10	0.20046	T	0.44	-15.7934	3.1878	0.06607	0.1587:0.1053:0.5343:0.2016	.	127;127	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	D	127	ENSP00000273009:E127D;ENSP00000315569:E127D;ENSP00000353584:E127D;ENSP00000386594:E127D;ENSP00000390467:E127D;ENSP00000386799:E127D	ENSP00000273009:E127D	E	+	3	2	DIS3L2	232660455	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	0.835000	0.27531	0.726000	0.32339	0.655000	0.94253	GAG		0.393	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
DIS3L2	129563	broad.mit.edu	37	2	233001398	233001398	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233001398G>T	ENST00000409307.1	+	7	919	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	DIS3L2_ENST00000273009.6_Missense_Mutation_p.D307Y|DIS3L2_ENST00000360410.4_Missense_Mutation_p.W326C|DIS3L2_ENST00000325385.7_Missense_Mutation_p.D307Y					DIS3 like 3'-5' exoribonuclease 2									p.D307Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCGCATTGTGGACTGGAAGGA	0.498																																					p.D307Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919T	2						.						107.0	102.0	104.0					2																	233001398		1946	4143	6089	232709642	SO:0001583	missense	129563	exon8			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.919G>T	2.37:g.233001398G>T	ENSP00000386799:p.Asp307Tyr		232709642	NM_152383		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.025233|4.025233	0.75390|0.75390	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307|ENST00000360410	T;T;T|T	0.31769|0.41400	1.48;1.87;1.87|1.0	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.220497|.	0.47093|.	D|.	0.000247|.	T|T	0.58075|0.58075	0.2097|0.2097	L|L	0.50333|0.50333	1.59|1.59	0.39150|0.39150	D|D	0.962211|0.962211	P|.	0.34934|.	0.476|.	B|.	0.36719|.	0.231|.	T|T	0.57980|0.57980	-0.7717|-0.7717	10|7	0.66056|0.87932	D|D	0.02|0	-26.6988|-26.6988	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307|.	Q8IYB7|.	DI3L2_HUMAN|.	Y|C	307|326	ENSP00000273009:D307Y;ENSP00000315569:D307Y;ENSP00000386799:D307Y|ENSP00000353584:W326C	ENSP00000273009:D307Y|ENSP00000353584:W326C	D|W	+|+	1|3	0|0	DIS3L2|DIS3L2	232709642|232709642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.444000|4.444000	0.60001|0.60001	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAC|TGG		0.498	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
ALPPL2	251	broad.mit.edu	37	2	233271873	233271873	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233271873C>A	ENST00000295453.3	+	2	226	c.174C>A	c.(172-174)ttC>ttA	p.F58L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	58					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.F58L(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	TCATCATCTTCCTGGGTGACG	0.677																																					p.F58L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C174A	2						.						70.0	82.0	78.0					2																	233271873		2203	4300	6503	232980117	SO:0001583	missense	251	exon2			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.174C>A	2.37:g.233271873C>A	ENSP00000295453:p.Phe58Leu		232980117	NM_031313	A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985679	0.35036	.	.	ENSG00000163286	ENST00000295453	D	0.96967	-4.19	2.19	1.3	0.21679	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.48986	1.54	0.48632	D	0.999688	P	0.36944	0.574	P	0.48368	0.575	D	0.91678	0.5356	10	0.56958	D	0.05	.	6.0361	0.19708	0.0:0.732:0.0:0.268	.	58	P10696	PPBN_HUMAN	L	58	ENSP00000295453:F58L	ENSP00000295453:F58L	F	+	3	2	ALPPL2	232980117	1.000000	0.71417	0.969000	0.41365	0.072000	0.16883	1.393000	0.34497	0.476000	0.27440	0.205000	0.17691	TTC		0.677	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
ECEL1	9427	broad.mit.edu	37	2	233349232	233349232	+	Silent	SNP	C	C	T	rs150091758	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233349232C>T	ENST00000304546.1	-	6	1344	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	ECEL1_ENST00000409941.1_Silent_p.A378A	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	378					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)	p.A378A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTAGTCTGTCGCCAGCAGCA	0.587													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20197	0.0		0.0	False		,,,				2504	0.0				p.A378A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1134A	2						.	C		3,4403	6.2+/-15.9	0,3,2200	139.0	134.0	136.0		1134	-0.4	1.0	2	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	ECEL1	NM_004826.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		378/776	233349232	3,13003	2203	4300	6503	233057476	SO:0001819	synonymous_variant	9427	exon6			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1134G>A	2.37:g.233349232C>T			233057476	NM_004826	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	CCDS2493.1																																																																																				0.587	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
CHRNG	1146	broad.mit.edu	37	2	233409186	233409186	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233409186C>T	ENST00000389494.3	+	10	1166	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	CHRNG_ENST00000389492.3_Missense_Mutation_p.S330L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	382					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.S382L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCGGGATGGTCGATCACAACT	0.667																																					p.S382L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1145T	2						.						71.0	72.0	72.0					2																	233409186		2203	4300	6503	233117430	SO:0001583	missense	1146	exon10			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1145C>T	2.37:g.233409186C>T	ENSP00000374145:p.Ser382Leu		233117430	NM_005199	B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	4.833	0.154877	0.09236	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.86230	-2.09;-2.09	5.21	4.3	0.51218	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.612141	0.16371	N	0.217324	T	0.68329	0.2989	N	0.10707	0.03	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.53697	-0.8402	10	0.09843	T	0.71	.	4.0387	0.09741	0.1954:0.6062:0.0:0.1984	.	330;382	Q14DU4;P07510	.;ACHG_HUMAN	L	382;382;330	ENSP00000374145:S382L;ENSP00000374143:S330L	ENSP00000374143:S330L	S	+	2	0	CHRNG	233117430	0.000000	0.05858	0.004000	0.12327	0.758000	0.43043	0.840000	0.27600	1.123000	0.41961	0.462000	0.41574	TCG		0.667	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199	
EIF4E2	9470	broad.mit.edu	37	2	233429029	233429029	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233429029C>A	ENST00000258416.3	+	4	1016	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	EIF4E2_ENST00000409322.1_Missense_Mutation_p.L70I|EIF4E2_ENST00000409394.1_Missense_Mutation_p.L70I|EIF4E2_ENST00000409495.1_Missense_Mutation_p.L115I|EIF4E2_ENST00000409098.1_Missense_Mutation_p.L115I|EIF4E2_ENST00000409514.1_Missense_Mutation_p.L115I|EIF4E2_ENST00000409167.3_Missense_Mutation_p.L70I	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	115					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)	p.L115I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGACTTCCATCTCTTCAAAGA	0.463																																					p.L115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C343A	2						.						40.0	36.0	37.0					2																	233429029		2203	4300	6503	233137273	SO:0001583	missense	9470	exon4			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.343C>A	2.37:g.233429029C>A	ENSP00000258416:p.Leu115Ile		233137273	NM_004846	B8ZZJ9|O75349	Missense_Mutation	SNP	ENST00000258416.3	37	CCDS2496.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974732	0.53720	.	.	ENSG00000135930	ENST00000258416;ENST00000409514;ENST00000409098;ENST00000409495;ENST00000409167;ENST00000409322;ENST00000409394;ENST00000454501	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.65	4.78	0.61160	Translation Initiation factor eIF- 4e-like  domain (2);Eukaryotic translation initiation factor 4E (eIF-4E), conserved site (1);	0.061322	0.64402	D	0.000003	T	0.66499	0.2795	M	0.81942	2.565	0.48087	D	0.999586	B;B;B	0.25272	0.122;0.04;0.028	B;B;B	0.43990	0.261;0.438;0.259	T	0.67260	-0.5715	10	0.49607	T	0.09	-18.4492	12.3963	0.55386	0.0:0.9185:0.0:0.0815	.	70;115;115	B4E1E4;B8ZZJ9;O60573	.;.;IF4E2_HUMAN	I	115;115;115;115;70;70;70;110	ENSP00000258416:L115I;ENSP00000387336:L115I;ENSP00000386996:L115I;ENSP00000386876:L115I;ENSP00000387328:L70I;ENSP00000386424:L70I;ENSP00000386983:L70I;ENSP00000390904:L110I	ENSP00000258416:L115I	L	+	1	0	EIF4E2	233137273	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.026000	0.70873	1.387000	0.46486	0.655000	0.94253	CTC		0.463	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2	NM_004846	
GIGYF2	26058	broad.mit.edu	37	2	233625228	233625228	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233625228T>G	ENST00000409547.1	+	9	729	c.418T>G	c.(418-420)Ttt>Gtt	p.F140V	AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409480.1_Missense_Mutation_p.F140V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.F140V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.F140V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.F140V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.F140V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	140	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.F140V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCAAAGAAGTTTTGATGAAGT	0.423																																					p.F140V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T418G	2						.						175.0	164.0	168.0					2																	233625228		2203	4300	6503	233333472	SO:0001583	missense	26058	exon6			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.418T>G	2.37:g.233625228T>G	ENSP00000386537:p.Phe140Val		233333472	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734127	0.69189	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000456491;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000409196;ENST00000409451;ENST00000440945	T;T;T;T;T;T;T	0.74209	-0.66;-0.68;-0.66;-0.68;-0.69;-0.66;-0.82	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	L	0.35723	1.085	0.80722	D	1	P;D;B	0.76494	0.573;0.999;0.043	B;D;B	0.78314	0.168;0.991;0.056	T	0.80236	-0.1466	10	0.42905	T	0.14	-13.1413	15.2618	0.73628	0.0:0.0:0.0:1.0	.	140;140;140	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	140;140;55;140;140;140;140;140;140	ENSP00000362667:F140V;ENSP00000362664:F140V;ENSP00000386765:F140V;ENSP00000386537:F140V;ENSP00000387070:F140V;ENSP00000387170:F140V;ENSP00000410297:F140V	ENSP00000362664:F140V	F	+	1	0	GIGYF2	233333472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.008000	0.58898	0.533000	0.62120	TTT		0.423	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
KCNJ13	3769	broad.mit.edu	37	2	233633487	233633487	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233633487C>T	ENST00000233826.3	-	3	636	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	AC064852.4_ENST00000427571.1_RNA|KCNJ13_ENST00000410029.1_Missense_Mutation_p.R166Q|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Silent_p.S87S|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	166					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)	p.R166Q(1)		endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGAAAAAGCTCGATTTTTTGG	0.378																																					p.R166Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G497A	2						.						64.0	67.0	66.0					2																	233633487		2203	4300	6503	233341731	SO:0001583	missense	3769	exon3			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.497G>A	2.37:g.233633487C>T	ENSP00000233826:p.Arg166Gln		233341731	NM_002242	A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223697	0.58668	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	D;D;D	0.96913	-4.17;-4.17;-4.17	5.86	5.86	0.93980	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98755	1.0722	9	0.87932	D	0	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	166	O60928	IRK13_HUMAN	Q	166;166;86	ENSP00000233826:R166Q;ENSP00000386251:R166Q;ENSP00000407284:R86Q	ENSP00000233826:R166Q	R	-	2	0	KCNJ13	233341731	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	7.786000	0.85741	2.776000	0.95493	0.655000	0.94253	CGA		0.378	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242	
GIGYF2	26058	broad.mit.edu	37	2	233697615	233697615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:233697615C>T	ENST00000409547.1	+	24	2889	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R882*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R881*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R854*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.R882*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.R691*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R860*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	860	Gln-rich.|Glu-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R860*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCCCAGCGTCGATTAGAGGA	0.502																																					p.R854X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2560T	2						.						17.0	19.0	18.0					2																	233697615		2178	4260	6438	233405859	SO:0001587	stop_gained	26058	exon21			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2578C>T	2.37:g.233697615C>T	ENSP00000386537:p.Arg860*		233405859	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	44	10.910299	0.99487	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000452341	.	.	.	5.36	5.36	0.76844	.	0.075643	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9822	18.6765	0.91529	0.0:1.0:0.0:0.0	.	.	.	.	X	882;860;882;860;854;881;691	.	ENSP00000362664:R860X	R	+	1	2	GIGYF2	233405859	0.726000	0.28059	0.975000	0.42487	0.995000	0.86356	1.245000	0.32790	2.499000	0.84300	0.655000	0.94253	CGA		0.502	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
DGKD	8527	broad.mit.edu	37	2	234368493	234368493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234368493C>T	ENST00000264057.2	+	23	2797	c.2785C>T	c.(2785-2787)Cgg>Tgg	p.R929W	DGKD_ENST00000409813.3_Missense_Mutation_p.R885W	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	929					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R929W(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGGGTACATTCGGATTGTCCA	0.632																																					p.R929W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2785T	2						.						69.0	61.0	64.0					2																	234368493		2203	4300	6503	234033232	SO:0001583	missense	8527	exon23			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2785C>T	2.37:g.234368493C>T	ENSP00000264057:p.Arg929Trp		234033232	NM_152879	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480864	0.44044	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.47869	0.83;0.83	4.35	4.35	0.52113	.	0.585599	0.16053	N	0.231871	T	0.38957	0.1060	L	0.42744	1.35	0.27273	N	0.958317	B;B	0.16603	0.011;0.018	B;B	0.15870	0.006;0.014	T	0.29792	-1.0000	10	0.66056	D	0.02	.	8.7284	0.34483	0.0:0.8578:0.0:0.1422	.	885;929	Q16760-2;Q16760	.;DGKD_HUMAN	W	929;885	ENSP00000264057:R929W;ENSP00000386455:R885W	ENSP00000264057:R929W	R	+	1	2	DGKD	234033232	0.974000	0.33945	0.842000	0.33263	0.972000	0.66771	2.240000	0.43088	2.442000	0.82660	0.462000	0.41574	CGG		0.632	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
UGT1A9	54600	broad.mit.edu	37	2	234581245	234581245	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234581245G>A	ENST00000354728.4	+	1	747	c.665G>A	c.(664-666)cGt>cAt	p.R222H	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R222H|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	222					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.R222H(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TTATGCCACCGTTTTTTCAAA	0.428																																					p.R222H												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G665A	2						.						215.0	224.0	221.0					2																	234581245		2203	4300	6503	234245984	SO:0001583	missense	54600	exon1			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.665G>A	2.37:g.234581245G>A	ENSP00000346768:p.Arg222His		234245984	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	4.521	0.096669	0.08681	.	.	ENSG00000241119	ENST00000354728	T	0.63913	-0.07	3.22	-5.2	0.02823	.	.	.	.	.	T	0.30823	0.0777	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19451	-1.0305	9	0.16420	T	0.52	.	1.2724	0.02024	0.3067:0.2019:0.0882:0.4033	.	222;222	Q5DSZ5;O60656	.;UD19_HUMAN	H	222	ENSP00000346768:R222H	ENSP00000346768:R222H	R	+	2	0	UGT1A9	234245984	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.600000	0.05693	-0.368000	0.08040	-0.760000	0.03462	CGT		0.428	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UGT1A6	54578	broad.mit.edu	37	2	234602507	234602507	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234602507C>T	ENST00000305139.6	+	1	996	c.857C>T	c.(856-858)tCt>tTt	p.S286F	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Missense_Mutation_p.S19F|UGT1A6_ENST00000480628.1_3'UTR|UGT1A6_ENST00000373424.1_Missense_Mutation_p.S19F	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	286					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S286F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AAAGACTTGTCTCAGGTTGGT	0.473																																					p.S286F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857T	2						.						319.0	339.0	332.0					2																	234602507		2203	4300	6503	234267246	SO:0001583	missense	54578	exon1			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.857C>T	2.37:g.234602507C>T	ENSP00000303174:p.Ser286Phe		234267246	NM_001072	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777676	0.31502	.	.	ENSG00000167165	ENST00000373424;ENST00000305139;ENST00000406651	T;T;T	0.62232	3.19;3.19;0.04	5.11	2.23	0.28157	.	.	.	.	.	T	0.77552	0.4147	M	0.86097	2.795	0.09310	N	1	D;D	0.64830	0.992;0.994	D;D	0.71184	0.962;0.972	T	0.63346	-0.6658	9	0.87932	D	0	.	7.9151	0.29814	0.1207:0.6921:0.1174:0.0698	.	286;286	B8K289;P19224	.;UD16_HUMAN	F	19;286;19	ENSP00000362523:S19F;ENSP00000303174:S286F;ENSP00000386107:S19F	ENSP00000303174:S286F	S	+	2	0	UGT1A6	234267246	0.009000	0.17119	0.675000	0.29917	0.071000	0.16799	0.389000	0.20751	1.378000	0.46305	0.655000	0.94253	TCT		0.473	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
UGT1A3	54659	broad.mit.edu	37	2	234638231	234638231	+	Silent	SNP	C	C	T	rs138617806		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234638231C>T	ENST00000482026.1	+	1	478	c.459C>T	c.(457-459)ccC>ccT	p.P153P	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.P153P|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	153					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.P153P(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TAACAGACCCCGTTAACCTCT	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21587	0.0		0.0	False		,,,				2504	0.0				p.P153P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	2						.	C	,,,,,,,,	0,4406		0,0,2203	191.0	198.0	195.0		,,,,,,459,,	-8.5	0.0	2	dbSNP_134	195	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,coding-synonymous,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A3	NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,	,,,,,,153/535,,	234638231	1,13005	2203	4300	6503	234302970	SO:0001819	synonymous_variant	54659	exon1			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.459C>T	2.37:g.234638231C>T			234302970	NM_019093	B8K287	Silent	SNP	ENST00000482026.1	37	CCDS2509.1																																																																																				0.453	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
HJURP	55355	broad.mit.edu	37	2	234749642	234749642	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234749642G>T	ENST00000411486.2	-	8	1849	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y	HJURP_ENST00000432087.1_Missense_Mutation_p.S541Y|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Missense_Mutation_p.S510Y	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	595					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.S595Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CTGCCCAGGAGATTTGAGGCA	0.388																																					p.S595Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1784A	2						.						103.0	107.0	105.0					2																	234749642		2203	4300	6503	234414381	SO:0001583	missense	55355	exon8				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1784C>A	2.37:g.234749642G>T	ENSP00000414109:p.Ser595Tyr		234414381	NM_018410	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324391	0.41197	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.24	3.36	0.38483	Holliday junction regulator protein family C-terminal repeat (1);	0.732493	0.11890	N	0.519736	T	0.79986	0.4541	M	0.62723	1.935	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.958;0.943;0.986	T	0.65833	-0.6072	10	0.87932	D	0	-6.8208	8.1327	0.31037	0.1081:0.0:0.8919:0.0	.	510;541;595	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	Y	595;541;510;510	ENSP00000414109:S595Y;ENSP00000407208:S541Y;ENSP00000401944:S510Y;ENSP00000393253:S510Y	ENSP00000414109:S595Y	S	-	2	0	HJURP	234414381	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.496000	0.22499	1.387000	0.46486	-0.251000	0.11542	TCT		0.388	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
HJURP	55355	broad.mit.edu	37	2	234750348	234750348	+	Missense_Mutation	SNP	G	G	T	rs536819756		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234750348G>T	ENST00000411486.2	-	8	1143	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	HJURP_ENST00000432087.1_Missense_Mutation_p.L306I|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000441687.1_Missense_Mutation_p.L275I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	360					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.L360I(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTGACTTCAAGAAAAGCTTTT	0.428																																					p.L360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078A	2						.						75.0	76.0	75.0					2																	234750348		2203	4300	6503	234415087	SO:0001583	missense	55355	exon8				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1078C>A	2.37:g.234750348G>T	ENSP00000414109:p.Leu360Ile		234415087	NM_018410	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.973124	0.34848	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	4.3	4.3	0.51218	Holliday junction recognition protein, HJURP (1);	0.712909	0.12734	N	0.443618	T	0.66167	0.2762	L	0.55481	1.735	0.09310	N	1	P;P;P	0.52061	0.938;0.938;0.95	P;P;P	0.56514	0.698;0.698;0.8	T	0.56153	-0.8026	10	0.48119	T	0.1	-7.2564	12.5854	0.56414	0.0:0.0:1.0:0.0	.	275;306;360	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	360;306;275;275	ENSP00000414109:L360I;ENSP00000407208:L306I;ENSP00000401944:L275I;ENSP00000393253:L275I	ENSP00000414109:L360I	L	-	1	0	HJURP	234415087	0.014000	0.17966	0.008000	0.14137	0.101000	0.19017	2.317000	0.43770	2.683000	0.91414	0.655000	0.94253	CTT		0.428	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
TRPM8	79054	broad.mit.edu	37	2	234846106	234846106	+	Missense_Mutation	SNP	G	G	A	rs149029668		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234846106G>A	ENST00000324695.4	+	4	341	c.301G>A	c.(301-303)Gac>Aac	p.D101N	TRPM8_ENST00000409625.1_Missense_Mutation_p.D24N|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.D51N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	101					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.D101N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATTTCCTACCGACGCCTTTGG	0.478																																					p.D101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	2						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	151.0	150.0	150.0		301	5.7	0.1	2	dbSNP_134	150	0,8600		0,0,4300	no	missense	TRPM8	NM_024080.4	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	101/1105	234846106	1,13005	2203	4300	6503	234510845	SO:0001583	missense	79054	exon4			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.301G>A	2.37:g.234846106G>A	ENSP00000323926:p.Asp101Asn		234510845	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276867	0.59758	2.27E-4	0.0	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.64438	-0.1;-0.1;-0.1	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.79341	0.4429	M	0.72118	2.19	0.80722	D	1	P;D	0.89917	0.803;1.0	B;D	0.83275	0.436;0.996	T	0.80074	-0.1534	10	0.62326	D	0.03	-32.7122	18.3402	0.90303	0.0:0.0:1.0:0.0	.	51;101	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	N	101;51;24	ENSP00000323926:D101N;ENSP00000347956:D51N;ENSP00000386771:D24N	ENSP00000323926:D101N	D	+	1	0	TRPM8	234510845	1.000000	0.71417	0.105000	0.21289	0.383000	0.30230	5.575000	0.67430	2.676000	0.91093	0.591000	0.81541	GAC		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234847782	234847782	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234847782G>T	ENST00000324695.4	+	5	529	c.489G>T	c.(487-489)aaG>aaT	p.K163N	TRPM8_ENST00000409625.1_Missense_Mutation_p.K86N|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.K113N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	163					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.K163N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCATGCGCAAGATCTTCAGCC	0.607																																					p.K163N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	2						.						36.0	38.0	37.0					2																	234847782		2203	4300	6503	234512521	SO:0001583	missense	79054	exon5			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.489G>T	2.37:g.234847782G>T	ENSP00000323926:p.Lys163Asn		234512521	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.328147	0.41197	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	T;T;T	0.57107	0.42;0.42;0.42	5.62	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.60741	0.2292	L	0.47016	1.485	0.80722	D	1	B;D	0.67145	0.02;0.996	B;D	0.67382	0.07;0.951	T	0.57539	-0.7794	10	0.30854	T	0.27	-38.1888	9.967	0.41730	0.1577:0.0:0.8423:0.0	.	113;163	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	N	163;113;86	ENSP00000323926:K163N;ENSP00000347956:K113N;ENSP00000386771:K86N	ENSP00000323926:K163N	K	+	3	2	TRPM8	234512521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.901000	0.28445	1.359000	0.45940	0.586000	0.80456	AAG		0.607	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234858655	234858655	+	Silent	SNP	C	C	T	rs530123743		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234858655C>T	ENST00000324695.4	+	9	1045	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	TRPM8_ENST00000433712.2_Silent_p.I23I|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	335					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I335I(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CGGGCCAGATCGCTGATGTGA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.001				p.I335I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1005T	2						.						86.0	80.0	82.0					2																	234858655		2203	4300	6503	234523394	SO:0001819	synonymous_variant	79054	exon9			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1005C>T	2.37:g.234858655C>T			234523394	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.552	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234891812	234891812	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234891812C>T	ENST00000324695.4	+	20	2745	c.2705C>T	c.(2704-2706)tCg>tTg	p.S902L	TRPM8_ENST00000433712.2_Missense_Mutation_p.S480L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	902					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S902L(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATATTCCGTTCGGTCATCTAC	0.572																																					p.S902L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2705T	2						.						145.0	129.0	135.0					2																	234891812		2203	4300	6503	234556551	SO:0001583	missense	79054	exon20			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2705C>T	2.37:g.234891812C>T	ENSP00000323926:p.Ser902Leu		234556551	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891772	0.91889	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.68765	-0.35;-0.35;-0.35	5.69	5.69	0.88448	Ion transport (1);	0.105027	0.42964	D	0.000624	T	0.79423	0.4443	L	0.54323	1.7	0.30689	N	0.751475	D;D	0.76494	0.997;0.999	D;D	0.80764	0.955;0.994	T	0.78388	-0.2223	10	0.62326	D	0.03	-5.8507	18.3913	0.90484	0.0:1.0:0.0:0.0	.	480;902	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	L	902;480;163	ENSP00000323926:S902L;ENSP00000404423:S480L;ENSP00000414198:S163L	ENSP00000323926:S902L	S	+	2	0	TRPM8	234556551	1.000000	0.71417	0.932000	0.37286	0.915000	0.54546	5.350000	0.66016	2.684000	0.91462	0.650000	0.86243	TCG		0.572	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234916725	234916725	+	Missense_Mutation	SNP	G	G	A	rs139759512	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234916725G>A	ENST00000324695.4	+	24	3282	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	TRPM8_ENST00000433712.2_Missense_Mutation_p.R659Q	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1081					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R1081Q(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGAGGCATCGATTTAGACAA	0.343																																					p.R1081Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3242A	2						.	G	GLN/ARG	0,4406		0,0,2203	235.0	225.0	228.0		3242	5.4	1.0	2	dbSNP_134	228	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TRPM8	NM_024080.4	43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	1081/1105	234916725	3,13003	2203	4300	6503	234581464	SO:0001583	missense	79054	exon24			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.3242G>A	2.37:g.234916725G>A	ENSP00000323926:p.Arg1081Gln		234581464	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291084	0.59976	0.0	3.49E-4	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.59638	0.25;0.3;0.45	5.45	5.45	0.79879	.	0.279849	0.25994	N	0.026981	T	0.45296	0.1335	L	0.40543	1.245	0.26162	N	0.979987	P;B	0.44946	0.846;0.029	B;B	0.33392	0.163;0.003	T	0.52616	-0.8552	10	0.49607	T	0.09	-23.7998	14.7965	0.69881	0.0:0.0:1.0:0.0	.	659;1081	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	Q	1081;659;342	ENSP00000323926:R1081Q;ENSP00000404423:R659Q;ENSP00000414198:R342Q	ENSP00000323926:R1081Q	R	+	2	0	TRPM8	234581464	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.966000	0.56795	2.580000	0.87095	0.655000	0.94253	CGA		0.343	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
SPP2	6694	broad.mit.edu	37	2	234959692	234959692	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:234959692T>C	ENST00000168148.3	+	2	251	c.163T>C	c.(163-165)Tca>Cca	p.S55P	SPP2_ENST00000373368.1_Missense_Mutation_p.S55P|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	55					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)	p.S55P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATTCCCAGTCACTGAGTCC	0.478																																					p.S55P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T163C	2						.						118.0	102.0	107.0					2																	234959692		2203	4300	6503	234624431	SO:0001583	missense	6694	exon2				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.163T>C	2.37:g.234959692T>C	ENSP00000168148:p.Ser55Pro		234624431	NM_006944	A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864692	0.51482	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.52057	0.68;0.68	5.39	-0.0335	0.13901	.	0.595286	0.17555	N	0.170025	T	0.57519	0.2059	M	0.67953	2.075	0.09310	N	1	D	0.71674	0.998	P	0.62649	0.905	T	0.49771	-0.8904	10	0.62326	D	0.03	-5.6794	7.4722	0.27355	0.1352:0.0:0.4487:0.4161	.	55	Q13103	SPP24_HUMAN	P	55	ENSP00000362466:S55P;ENSP00000168148:S55P	ENSP00000168148:S55P	S	+	1	0	SPP2	234624431	0.257000	0.24022	0.003000	0.11579	0.879000	0.50718	0.963000	0.29293	-0.227000	0.09884	0.533000	0.62120	TCA		0.478	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	
AGAP1	116987	broad.mit.edu	37	2	236708095	236708095	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:236708095G>A	ENST00000304032.8	+	8	1466	c.886G>A	c.(886-888)Gat>Aat	p.D296N	AGAP1_ENST00000409538.1_Missense_Mutation_p.D561N|AGAP1_ENST00000428334.2_Missense_Mutation_p.D135N|AGAP1_ENST00000336665.5_Missense_Mutation_p.D296N|AGAP1_ENST00000409457.1_Missense_Mutation_p.D296N	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	296					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.D296N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTTCGGATCGATGTTCCTCC	0.532																																					p.D296N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	2						.						100.0	87.0	91.0					2																	236708095		2203	4300	6503	236372834	SO:0001583	missense	116987	exon8			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.886G>A	2.37:g.236708095G>A	ENSP00000307634:p.Asp296Asn		236372834	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674993	0.67928	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.63488	0.915;0.736	T	0.09596	-1.0667	10	0.20046	T	0.44	.	18.7434	0.91782	0.0:0.0:1.0:0.0	.	296;296	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	N	296;296;296;561;135	ENSP00000387174:D296N;ENSP00000307634:D296N;ENSP00000338378:D296N;ENSP00000386897:D561N;ENSP00000411824:D135N	ENSP00000307634:D296N	D	+	1	0	AGAP1	236372834	1.000000	0.71417	0.240000	0.24138	0.344000	0.29017	9.712000	0.98738	2.430000	0.82344	0.655000	0.94253	GAT		0.532	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
ASB18	401036	broad.mit.edu	37	2	237150030	237150030	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:237150030A>G	ENST00000409749.3	-	2	220	c.221T>C	c.(220-222)cTg>cCg	p.L74P	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000330842.6_Missense_Mutation_p.L45P	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	74					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L45P(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAGGGGCTTCAGATGGTCGAG	0.522																																					p.L74P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T221C	2						.						85.0	85.0	85.0					2																	237150030		1969	4151	6120	236814769	SO:0001583	missense	401036	exon2			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.221T>C	2.37:g.237150030A>G	ENSP00000386532:p.Leu74Pro		236814769	NM_212556	B6ZDL7	Missense_Mutation	SNP	ENST00000409749.3	37	CCDS46548.1	.	.	.	.	.	.	.	.	.	.	A	9.709	1.156512	0.21454	.	.	ENSG00000182177	ENST00000330842;ENST00000409749	T;T	0.57752	0.38;0.38	5.12	2.76	0.32466	Ankyrin repeat-containing domain (1);	1.365880	0.05209	N	0.506468	T	0.68805	0.3041	L	0.58583	1.82	0.19775	N	0.999959	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.955	T	0.47182	-0.9137	10	0.87932	D	0	.	8.8387	0.35129	0.8456:0.0:0.1544:0.0	.	74;45	Q6ZVZ8;Q6ZVZ8-2	ASB18_HUMAN;.	P	45;74	ENSP00000329970:L45P;ENSP00000386532:L74P	ENSP00000329970:L45P	L	-	2	0	ASB18	236814769	0.759000	0.28416	0.001000	0.08648	0.017000	0.09413	4.582000	0.60957	0.305000	0.22832	0.533000	0.62120	CTG		0.522	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556	
IQCA1	79781	broad.mit.edu	37	2	237272452	237272452	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:237272452G>A	ENST00000409907.3	-	15	2114	c.1840C>T	c.(1840-1842)Ctc>Ttc	p.L614F	IQCA1_ENST00000431676.2_Missense_Mutation_p.L573F|IQCA1_ENST00000309507.5_Missense_Mutation_p.L611F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	614							ATP binding (GO:0005524)	p.L614F(1)|p.L622F(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATCATTTGGAGGCCATTTTTG	0.448																																					p.L614F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1840T	2						.						166.0	163.0	164.0					2																	237272452		1968	4159	6127	236937191	SO:0001583	missense	79781	exon15			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1840C>T	2.37:g.237272452G>A	ENSP00000387347:p.Leu614Phe		236937191	NM_024726	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642828	0.67244	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.94576	-3.37;-3.38;-3.46	4.36	3.48	0.39840	ATPase, AAA-type, core (1);	0.122268	0.33938	N	0.004413	D	0.96632	0.8901	M	0.78916	2.43	0.51482	D	0.999921	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.77004	0.989;0.983;0.983	D	0.96427	0.9316	10	0.66056	D	0.02	.	12.3771	0.55285	0.0829:0.0:0.9171:0.0	.	573;622;614	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	F	614;622;611;573;611	ENSP00000387347:L614F;ENSP00000311951:L611F;ENSP00000407213:L573F	ENSP00000254653:L615F	L	-	1	0	IQCA1	236937191	1.000000	0.71417	0.978000	0.43139	0.876000	0.50452	3.951000	0.56684	0.951000	0.37770	0.561000	0.74099	CTC		0.448	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
IQCA1	79781	broad.mit.edu	37	2	237402512	237402512	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:237402512T>C	ENST00000409907.3	-	3	629	c.355A>G	c.(355-357)Ata>Gta	p.I119V	IQCA1_ENST00000431676.2_Missense_Mutation_p.I119V|IQCA1_ENST00000309507.5_Missense_Mutation_p.I115V	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	119							ATP binding (GO:0005524)	p.I126V(1)|p.I119V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TACTTGGGTATGGGAATATCT	0.338																																					p.I119V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A355G	2						.						70.0	62.0	65.0					2																	237402512		1802	4072	5874	237067251	SO:0001583	missense	79781	exon3			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.355A>G	2.37:g.237402512T>C	ENSP00000387347:p.Ile119Val		237067251	NM_024726	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.24|15.24	2.775337|2.775337	0.49786|0.49786	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000418802|ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	.|D;D;D	.|0.94138	.|-3.26;-3.27;-3.36	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	D|D	0.93099|0.93099	0.7803|0.7803	L|L	0.46885|0.46885	1.475|1.475	0.41296|0.41296	D|D	0.987016|0.987016	.|P;P;P	.|0.50617	.|0.506;0.937;0.709	.|B;P;B	.|0.54401	.|0.338;0.751;0.412	D|D	0.91613|0.91613	0.5304|0.5304	5|10	.|0.26408	.|T	.|0.33	.|.	13.3781|13.3781	0.60752|0.60752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|119;126;119	.|E7EWQ0;E9PH78;Q86XH1	.|.;.;IQCA1_HUMAN	R|V	137|119;126;115;119;115	.|ENSP00000387347:I119V;ENSP00000311951:I115V;ENSP00000407213:I119V	.|ENSP00000254653:I119V	H|I	-|-	2|1	0|0	IQCA1|IQCA1	237067251|237067251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.646000|3.646000	0.54396|0.54396	1.849000|1.849000	0.53698|0.53698	0.460000|0.460000	0.39030|0.39030	CAT|ATA		0.338	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726	
ACKR3	57007	broad.mit.edu	37	2	237489448	237489448	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:237489448G>A	ENST00000272928.3	+	2	650	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	114					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.E114K(1)									GCCCATGGGCGAGCTCACGTG	0.567																																					p.E114K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	2						.						236.0	201.0	213.0					2																	237489448		2203	4300	6503	237154187	SO:0001583	missense	57007	exon2			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.340G>A	2.37:g.237489448G>A	ENSP00000272928:p.Glu114Lys		237154187	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231092	0.58777	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.71698	-0.59;-0.59	5.7	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.118034	0.56097	D	0.000026	T	0.70133	0.3189	L	0.37561	1.115	0.42859	D	0.994105	D	0.63880	0.993	P	0.55112	0.769	T	0.65932	-0.6048	10	0.09084	T	0.74	.	16.4302	0.83840	0.0:0.1316:0.8684:0.0	.	114	P25106	CXCR7_HUMAN	K	114	ENSP00000405945:E114K;ENSP00000272928:E114K	ENSP00000272928:E114K	E	+	1	0	CXCR7	237154187	1.000000	0.71417	0.849000	0.33467	0.832000	0.47134	5.445000	0.66594	1.358000	0.45922	0.655000	0.94253	GAG		0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
ACKR3	57007	broad.mit.edu	37	2	237489590	237489590	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:237489590G>A	ENST00000272928.3	+	2	792	c.482G>A	c.(481-483)cGc>cAc	p.R161H		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	161					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.R161H(1)									AAGATGGTACGCCGTGTCGTC	0.572																																					p.R161H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	2						.						185.0	159.0	168.0					2																	237489590		2203	4300	6503	237154329	SO:0001583	missense	57007	exon2			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.482G>A	2.37:g.237489590G>A	ENSP00000272928:p.Arg161His		237154329	NM_020311	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349138	0.61183	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.37411	1.2;1.2	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	P	0.60345	0.873	T	0.59440	-0.7454	10	0.51188	T	0.08	.	19.8471	0.96713	0.0:0.0:1.0:0.0	.	161	P25106	CXCR7_HUMAN	H	161	ENSP00000405945:R161H;ENSP00000272928:R161H	ENSP00000272928:R161H	R	+	2	0	CXCR7	237154329	1.000000	0.71417	0.024000	0.17045	0.040000	0.13550	9.611000	0.98342	2.688000	0.91661	0.655000	0.94253	CGC		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311	
COL6A3	1293	broad.mit.edu	37	2	238243485	238243485	+	Missense_Mutation	SNP	C	C	T	rs551422404		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238243485C>T	ENST00000295550.4	-	41	9465	c.9013G>A	c.(9013-9015)Gcc>Acc	p.A3005T	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2804T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2805T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2799T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2398T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2799T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3005	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A3005T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGAGTTTGGCGCTGTTCTCT	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18098	0.0		0.0	False		,,,				2504	0.0				p.A2398T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7192A	2						.						85.0	90.0	88.0					2																	238243485		2203	4300	6503	237908224	SO:0001583	missense	1293	exon38			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9013G>A	2.37:g.238243485C>T	ENSP00000295550:p.Ala3005Thr		237908224	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875367	0.33162	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000046	T	0.54951	0.1890	M	0.62723	1.935	0.41596	D	0.988825	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.949;0.977;0.949	T	0.57883	-0.7734	10	0.72032	D	0.01	.	18.9676	0.92702	0.0:1.0:0.0:0.0	.	2398;2799;3005	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	3005;2804;2799;2398;2799;2805	ENSP00000295550:A3005T;ENSP00000315609:A2804T;ENSP00000315873:A2799T;ENSP00000418285:A2398T;ENSP00000386844:A2799T;ENSP00000295546:A2805T	ENSP00000295550:A3005T	A	-	1	0	COL6A3	237908224	0.998000	0.40836	0.966000	0.40874	0.435000	0.31806	4.072000	0.57563	2.473000	0.83533	0.563000	0.77884	GCC		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238244917	238244917	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238244917C>T	ENST00000295550.4	-	40	9278	c.8826G>A	c.(8824-8826)gcG>gcA	p.A2942A	COL6A3_ENST00000347401.3_Silent_p.A2741A|COL6A3_ENST00000346358.4_Silent_p.A2742A|COL6A3_ENST00000353578.4_Silent_p.A2736A|COL6A3_ENST00000472056.1_Silent_p.A2335A|COL6A3_ENST00000409809.1_Silent_p.A2736A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2942	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2942A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTACAGGCTTCGCTGCCGTTG	0.632																																					p.A2335A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7005A	2						.						40.0	47.0	45.0					2																	238244917		2200	4299	6499	237909656	SO:0001819	synonymous_variant	1293	exon37			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8826G>A	2.37:g.238244917C>T			237909656	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.632	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238245103	238245103	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238245103C>T	ENST00000295550.4	-	40	9092	c.8640G>A	c.(8638-8640)acG>acA	p.T2880T	COL6A3_ENST00000347401.3_Silent_p.T2679T|COL6A3_ENST00000346358.4_Silent_p.T2680T|COL6A3_ENST00000353578.4_Silent_p.T2674T|COL6A3_ENST00000472056.1_Silent_p.T2273T|COL6A3_ENST00000409809.1_Silent_p.T2674T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2880	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T2880T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCGGCTTCGTCGTAGTCA	0.473																																					p.T2273T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6819A	2						.						161.0	153.0	155.0					2																	238245103		2203	4300	6503	237909842	SO:0001819	synonymous_variant	1293	exon37			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8640G>A	2.37:g.238245103C>T			237909842	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238249185	238249185	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238249185C>T	ENST00000295550.4	-	38	8826	c.8374G>A	c.(8374-8376)Gac>Aac	p.D2792N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D2591N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2592N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2586N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D2185N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D2586N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2792	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2792N(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGAAGACGTCGTTTGGCTCA	0.537																																					p.D2185N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6553A	2						.						112.0	98.0	103.0					2																	238249185		2203	4300	6503	237913924	SO:0001583	missense	1293	exon35			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8374G>A	2.37:g.238249185C>T	ENSP00000295550:p.Asp2792Asn		237913924	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487559	0.26686	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.65	5.65	0.86999	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000029	T	0.41213	0.1149	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.948;0.914;0.999	T	0.05937	-1.0855	10	0.49607	T	0.09	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	2185;2586;2792	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2792;2591;2586;2185;2586;2592	ENSP00000295550:D2792N;ENSP00000315609:D2591N;ENSP00000315873:D2586N;ENSP00000418285:D2185N;ENSP00000386844:D2586N;ENSP00000295546:D2592N	ENSP00000295550:D2792N	D	-	1	0	COL6A3	237913924	1.000000	0.71417	0.246000	0.24233	0.095000	0.18619	4.496000	0.60360	2.824000	0.97209	0.655000	0.94253	GAC		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238249704	238249704	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238249704C>T	ENST00000295550.4	-	38	8307	c.7855G>A	c.(7855-7857)Gac>Aac	p.D2619N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D2418N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D2419N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D2413N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D2012N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D2413N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2619	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D2619N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAAGCCATGTCGATGTCCACA	0.517																																					p.D2012N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6034A	2						.						178.0	174.0	175.0					2																	238249704		2203	4300	6503	237914443	SO:0001583	missense	1293	exon35			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7855G>A	2.37:g.238249704C>T	ENSP00000295550:p.Asp2619Asn		237914443	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268723	0.59540	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000035	D	0.96516	0.8863	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97087	0.9788	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	2012;2413;2619	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	N	2619;2418;2413;2012;2413;2419	ENSP00000295550:D2619N;ENSP00000315609:D2418N;ENSP00000315873:D2413N;ENSP00000418285:D2012N;ENSP00000386844:D2413N;ENSP00000295546:D2419N	ENSP00000295550:D2619N	D	-	1	0	COL6A3	237914443	1.000000	0.71417	0.498000	0.27564	0.994000	0.84299	7.684000	0.84104	2.478000	0.83669	0.655000	0.94253	GAC		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238274642	238274642	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238274642G>T	ENST00000295550.4	-	12	5989	c.5537C>A	c.(5536-5538)tCt>tAt	p.S1846Y	COL6A3_ENST00000347401.3_Missense_Mutation_p.S1645Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1646Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1640Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1239Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1640Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1846	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S1846Y(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGTCTCTAGAACCATCAAA	0.502																																					p.S1239Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3716A	2						.						63.0	64.0	63.0					2																	238274642		2203	4300	6503	237939381	SO:0001583	missense	1293	exon9			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5537C>A	2.37:g.238274642G>T	ENSP00000295550:p.Ser1846Tyr		237939381	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365551	0.24684	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.44	5.44	0.79542	von Willebrand factor, type A (2);	0.149717	0.31177	N	0.008118	D	0.86826	0.6026	M	0.80746	2.51	0.51482	D	0.999928	D;D;D	0.89917	0.997;0.998;1.0	P;D;D	0.85130	0.898;0.953;0.997	D	0.88131	0.2838	10	0.87932	D	0	.	16.6397	0.85068	0.0:0.1296:0.8704:0.0	.	1239;1640;1846	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Y	1846;1645;1640;1239;1640;1646	ENSP00000295550:S1846Y;ENSP00000315609:S1645Y;ENSP00000315873:S1640Y;ENSP00000418285:S1239Y;ENSP00000386844:S1640Y;ENSP00000295546:S1646Y	ENSP00000295550:S1846Y	S	-	2	0	COL6A3	237939381	1.000000	0.71417	0.462000	0.27118	0.471000	0.32888	6.011000	0.70760	2.723000	0.93209	0.655000	0.94253	TCT		0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238285978	238285978	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238285978C>T	ENST00000295550.4	-	7	2959	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	COL6A3_ENST00000347401.3_Missense_Mutation_p.R635Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R636Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R630Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R229Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R630Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R429Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R630Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	836	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R836Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGAATGTCTCGCTTGCTCTC	0.478																																					p.R229Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	2						.						81.0	84.0	83.0					2																	238285978		2203	4300	6503	237950717	SO:0001583	missense	1293	exon4			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2507G>A	2.37:g.238285978C>T	ENSP00000295550:p.Arg836Gln		237950717	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650604	0.67472	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.75	4.88	0.63580	von Willebrand factor, type A (1);	0.175838	0.27181	N	0.020543	T	0.50820	0.1638	M	0.74647	2.275	0.33877	D	0.635681	P;D;D;D;D;P	0.71674	0.852;0.99;0.998;0.958;0.997;0.539	B;P;P;P;P;B	0.59703	0.079;0.787;0.862;0.511;0.847;0.04	T	0.63005	-0.6733	10	0.27785	T	0.31	.	8.8878	0.35414	0.0:0.7651:0.0:0.2349	.	636;229;429;630;630;836	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	Q	836;635;630;229;630;636;630;429;636	ENSP00000295550:R836Q;ENSP00000315609:R635Q;ENSP00000315873:R630Q;ENSP00000418285:R229Q;ENSP00000386844:R630Q;ENSP00000295546:R636Q;ENSP00000375861:R630Q;ENSP00000375860:R429Q;ENSP00000389539:R636Q	ENSP00000295550:R836Q	R	-	2	0	COL6A3	237950717	0.888000	0.30383	1.000000	0.80357	0.695000	0.40330	1.548000	0.36201	1.443000	0.47586	0.655000	0.94253	CGA		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238289663	238289663	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238289663C>T	ENST00000295550.4	-	5	2244	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	COL6A3_ENST00000347401.3_Missense_Mutation_p.D397N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D598N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D392N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D191N|COL6A3_ENST00000392004.3_Missense_Mutation_p.D392N|COL6A3_ENST00000392003.2_Missense_Mutation_p.D191N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D392N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	598	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D598N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGAGGAGTCGAAAGCGATC	0.592																																					p.D191N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G571A	2						.						81.0	74.0	77.0					2																	238289663		2203	4300	6503	237954402	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1792G>A	2.37:g.238289663C>T	ENSP00000295550:p.Asp598Asn		237954402	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893663	0.52121	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.81	5.81	0.92471	von Willebrand factor, type A (3);	0.109102	0.40064	N	0.001193	D	0.89026	0.6598	L	0.55017	1.72	0.20563	N	0.999885	P;D;D;D;D;P	0.89917	0.854;0.999;0.992;1.0;1.0;0.854	B;D;D;D;D;B	0.76575	0.141;0.97;0.912;0.982;0.988;0.141	T	0.80547	-0.1334	10	0.20519	T	0.43	.	20.0804	0.97772	0.0:1.0:0.0:0.0	.	598;191;191;392;392;598	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	N	598;397;392;191;392;598;392;191;598	ENSP00000295550:D598N;ENSP00000315609:D397N;ENSP00000315873:D392N;ENSP00000418285:D191N;ENSP00000386844:D392N;ENSP00000295546:D598N;ENSP00000375861:D392N;ENSP00000375860:D191N;ENSP00000389539:D598N	ENSP00000295550:D598N	D	-	1	0	COL6A3	237954402	0.923000	0.31300	0.610000	0.28997	0.125000	0.20455	2.267000	0.43329	2.738000	0.93877	0.655000	0.94253	GAC		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238296672	238296672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238296672C>A	ENST00000295550.4	-	4	1317	c.865G>T	c.(865-867)Gag>Tag	p.E289*	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E289*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.E83*|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Nonsense_Mutation_p.E83*|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.E83*	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	289	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E289*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTCTGGGCTCATCGCTAAAC	0.522																																					p.E83X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G247T	2						.						86.0	81.0	82.0					2																	238296672		2203	4300	6503	237961411	SO:0001587	stop_gained	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.865G>T	2.37:g.238296672C>A	ENSP00000295550:p.Glu289*		237961411	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Nonsense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	34	5.411596	0.96072	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	.	.	.	5.11	5.11	0.69529	.	0.295679	0.23208	U	0.050707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	14.5501	0.68059	0.0:0.8092:0.1908:0.0	.	.	.	.	X	289;83;83;289;83;289	.	ENSP00000295550:E289X	E	-	1	0	COL6A3	237961411	0.995000	0.38212	0.999000	0.59377	0.961000	0.63080	1.322000	0.33689	2.370000	0.80446	0.650000	0.86243	GAG		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
ATAD2B	54454	broad.mit.edu	37	2	23977597	23977597	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:23977597T>G	ENST00000238789.5	-	26	4469	c.4126A>C	c.(4126-4128)Aaa>Caa	p.K1376Q	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1376						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.K1376Q(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTCGTTTTTGCCTGCTCT	0.388																																					p.K1376Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4126C	2						.						90.0	93.0	92.0					2																	23977597		1831	4074	5905	23831101	SO:0001583	missense	54454	exon26			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4126A>C	2.37:g.23977597T>G	ENSP00000238789:p.Lys1376Gln		23831101	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.655|3.655	-0.070676|-0.070676	0.07228|0.07228	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.91464|.	-2.85|.	5.39|5.39	4.16|4.16	0.48862|0.48862	.|.	0.314890|.	0.26349|.	N|.	0.024884|.	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.05441|0.05441	-0.05|-0.05	0.25046|0.25046	N|N	0.991162|0.991162	B;B|.	0.14012|.	0.005;0.009|.	B;B|.	0.13407|.	0.004;0.009|.	T|T	0.13683|0.13683	-1.0500|-1.0500	10|5	0.12766|.	T|.	0.61|.	.|.	11.0804|11.0804	0.48057|0.48057	0.0:0.0:0.1533:0.8467|0.0:0.0:0.1533:0.8467	.|.	1376;1371|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	Q|H	1376;544|651	ENSP00000238789:K1376Q|.	ENSP00000238789:K1376Q|.	K|Q	-|-	1|3	0|2	ATAD2B|ATAD2B	23831101|23831101	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.806000|0.806000	0.45545|0.45545	3.297000|3.297000	0.51810|0.51810	2.191000|2.191000	0.70037|0.70037	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.388	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
COL6A3	1293	broad.mit.edu	37	2	238296750	238296750	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238296750C>T	ENST00000295550.4	-	4	1239	c.787G>A	c.(787-789)Gac>Aac	p.D263N	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.D263N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D57N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.D57N|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.D57N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	263	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D263N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAAGGAAGTCGAGAATGACT	0.428																																					p.D57N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169A	2						.						66.0	67.0	67.0					2																	238296750		2203	4300	6503	237961489	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.787G>A	2.37:g.238296750C>T	ENSP00000295550:p.Asp263Asn		237961489	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208567	0.58343	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.97642	-1.71;-1.71;-1.71;-1.71;-1.71;-4.47	5.43	4.56	0.56223	von Willebrand factor, type A (3);	0.000000	0.48286	U	0.000197	D	0.97081	0.9046	L	0.46614	1.455	0.48452	D	0.999653	P;D;D;P	0.89917	0.589;0.998;1.0;0.589	B;P;D;B	0.70487	0.156;0.904;0.969;0.156	D	0.95558	0.8627	10	0.18276	T	0.48	.	14.0324	0.64624	0.0:0.9271:0.0:0.0729	.	263;57;57;263	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	N	263;57;57;263;57;263	ENSP00000295550:D263N;ENSP00000315873:D57N;ENSP00000386844:D57N;ENSP00000295546:D263N;ENSP00000375861:D57N;ENSP00000389539:D263N	ENSP00000295550:D263N	D	-	1	0	COL6A3	237961489	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.768000	0.55295	1.287000	0.44583	0.650000	0.86243	GAC		0.428	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
LRRFIP1	9208	broad.mit.edu	37	2	238671280	238671280	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238671280C>T	ENST00000392000.4	+	11	1041	c.924C>T	c.(922-924)atC>atT	p.I308I	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Silent_p.I252I|LRRFIP1_ENST00000244815.5_Silent_p.I284I	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	308					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.I308I(1)|p.I284I(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAAATGAAATCGTGGCGAATG	0.438																																					p.I308I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C924T	2						.						60.0	56.0	57.0					2																	238671280		2203	4300	6503	238336019	SO:0001819	synonymous_variant	9208	exon11			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.924C>T	2.37:g.238671280C>T			238336019	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	CCDS46552.1																																																																																				0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
RBM44	375316	broad.mit.edu	37	2	238726429	238726429	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238726429G>T	ENST00000409864.1	+	3	1124	c.870G>T	c.(868-870)atG>atT	p.M290I	RBM44_ENST00000316997.4_Missense_Mutation_p.M290I|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	289						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.M290I(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTAATTCAATGTACCACACTG	0.358																																					p.M290I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G870T	2						.						71.0	67.0	68.0					2																	238726429		1850	4092	5942	238391168	SO:0001583	missense	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.870G>T	2.37:g.238726429G>T	ENSP00000386727:p.Met290Ile		238391168	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	1.432	-0.569887	0.03910	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.30981	1.51;1.51	5.65	0.472	0.16758	.	0.731043	0.13040	N	0.418604	T	0.29061	0.0722	M	0.65975	2.015	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24621	-1.0155	10	0.34782	T	0.22	2.0711	8.8409	0.35142	0.4104:0.0:0.5896:0.0	.	289	Q6ZP01	RBM44_HUMAN	I	290	ENSP00000321179:M290I;ENSP00000386727:M290I	ENSP00000321179:M290I	M	+	3	0	RBM44	238391168	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.213000	0.09305	0.045000	0.15804	-0.122000	0.15005	ATG		0.358	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
RBM44	375316	broad.mit.edu	37	2	238727037	238727037	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238727037C>A	ENST00000409864.1	+	3	1732	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	RBM44_ENST00000316997.4_Missense_Mutation_p.S493Y|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	492						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.S493Y(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TCTGTAGTATCTACATCAAGC	0.393																																					p.S493Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1478A	2						.						86.0	80.0	82.0					2																	238727037		1915	4131	6046	238391776	SO:0001583	missense	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1478C>A	2.37:g.238727037C>A	ENSP00000386727:p.Ser493Tyr		238391776	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973274	0.74246	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.39787	1.06;1.06	5.86	5.86	0.93980	.	0.092530	0.48286	D	0.000188	T	0.65249	0.2673	M	0.71581	2.175	0.37053	D	0.897707	D	0.89917	1.0	D	0.87578	0.998	T	0.71069	-0.4699	10	0.87932	D	0	-19.4409	16.9051	0.86124	0.0:1.0:0.0:0.0	.	492	Q6ZP01	RBM44_HUMAN	Y	493	ENSP00000321179:S493Y;ENSP00000386727:S493Y	ENSP00000321179:S493Y	S	+	2	0	RBM44	238391776	0.935000	0.31712	0.345000	0.25642	0.865000	0.49528	4.480000	0.60243	2.777000	0.95525	0.591000	0.81541	TCT		0.393	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
SCLY	51540	broad.mit.edu	37	2	238990838	238990838	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:238990838C>T	ENST00000555827.1	+	6	829	c.765C>T	c.(763-765)atC>atT	p.I255I	SCLY_ENST00000422984.2_Silent_p.I161I|SCLY_ENST00000254663.6_Silent_p.I263I|SCLY_ENST00000373332.3_Silent_p.I173I|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000409736.2_Silent_p.I255I			Q96I15	SCLY_HUMAN	selenocysteine lyase	255					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.I255I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCCTTACAATCGTGGGGCACA	0.617																																					p.I255I	Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C765T	2						.						60.0	56.0	57.0					2																	238990838		2203	4299	6502	238655577	SO:0001819	synonymous_variant	51540	exon6			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.765C>T	2.37:g.238990838C>T			238655577	NM_016510	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.962|6.962	0.547501|0.547501	0.13312|0.13312	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134;ENST00000440143|ENST00000431487	.|.	.|.	.|.	5.48|5.48	-1.83|-1.83	0.07833|0.07833	.|.	.|.	.|.	.|.	.|.	T|T	0.58552|0.58552	0.2130|0.2130	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.55903|0.55903	-0.8067|-0.8067	4|4	.|.	.|.	.|.	-31.9455|-31.9455	12.4979|12.4979	0.55940|0.55940	0.0:0.3779:0.0:0.6221|0.0:0.3779:0.0:0.6221	.|.	.|.	.|.	.|.	C|L	99;33|101	.|.	.|.	R|S	+|+	1|2	0|0	SCLY|SCLY	238655577|238655577	0.002000|0.002000	0.14202|0.14202	0.855000|0.855000	0.33649|0.33649	0.090000|0.090000	0.18270|0.18270	-1.380000|-1.380000	0.02551|0.02551	-0.425000|-0.425000	0.07371|0.07371	-0.812000|-0.812000	0.03155|0.03155	CGT|TCG		0.617	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
ILKAP	80895	broad.mit.edu	37	2	239079309	239079309	+	Missense_Mutation	SNP	C	C	A	rs141848989	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:239079309C>A	ENST00000254654.3	-	12	1222	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	349	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.K349N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GGGTCTGGATCTTTTCATCCT	0.602																																					p.K349N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1047T	2						.	C	ASN/LYS	0,4406		0,0,2203	34.0	34.0	34.0		1047	4.8	1.0	2	dbSNP_134	34	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ILKAP	NM_030768.2	94	0,5,6498	AA,AC,CC		0.0581,0.0,0.0384	benign	349/393	239079309	5,13001	2203	4300	6503	238744048	SO:0001583	missense	80895	exon12			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.1047G>T	2.37:g.239079309C>A	ENSP00000254654:p.Lys349Asn		238744048	NM_030768	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523841	0.44866	0.0	5.81E-4	ENSG00000132323	ENST00000254654	T	0.17528	2.27	5.69	4.82	0.62117	Protein phosphatase 2C-like (5);	0.520687	0.22651	N	0.057326	T	0.08403	0.0209	N	0.04805	-0.155	0.33587	D	0.600625	B	0.06786	0.001	B	0.11329	0.006	T	0.11616	-1.0580	10	0.34782	T	0.22	-14.0397	8.5911	0.33688	0.1515:0.7703:0.0:0.0782	.	349	Q9H0C8	ILKAP_HUMAN	N	349	ENSP00000254654:K349N	ENSP00000254654:K349N	K	-	3	2	ILKAP	238744048	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	0.505000	0.22642	1.404000	0.46819	0.563000	0.77884	AAG		0.602	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
ILKAP	80895	broad.mit.edu	37	2	239093923	239093923	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:239093923C>T	ENST00000254654.3	-	6	606	c.431G>A	c.(430-432)cGg>cAg	p.R144Q		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	144	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R144Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		ATATGAAACCCGAGTACTGAA	0.333																																					p.R144Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	2						.						63.0	61.0	61.0					2																	239093923		2203	4300	6503	238758662	SO:0001583	missense	80895	exon6			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.431G>A	2.37:g.239093923C>T	ENSP00000254654:p.Arg144Gln		238758662	NM_030768	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477959	0.96291	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.17054	2.3;2.3	5.98	5.98	0.97165	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.42245	1.32	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.00448	-1.1733	10	0.72032	D	0.01	-1.2056	19.2296	0.93833	0.0:1.0:0.0:0.0	.	144	Q9H0C8	ILKAP_HUMAN	Q	144;142	ENSP00000254654:R144Q;ENSP00000395301:R142Q	ENSP00000254654:R144Q	R	-	2	0	ILKAP	238758662	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.032000	0.70918	2.835000	0.97688	0.650000	0.86243	CGG		0.333	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
ATAD2B	54454	broad.mit.edu	37	2	24046131	24046131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24046131C>A	ENST00000238789.5	-	16	2471	c.2128G>T	c.(2128-2130)Gaa>Taa	p.E710*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	710						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.E710*(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGTACCTTCTTTTTTGTCA	0.328																																					p.E710X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2128T	2						.						52.0	47.0	49.0					2																	24046131		1836	4082	5918	23899635	SO:0001587	stop_gained	54454	exon16			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2128G>T	2.37:g.24046131C>A	ENSP00000238789:p.Glu710*		23899635	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	40	8.283822	0.98742	.	.	ENSG00000119778	ENST00000238789	.	.	.	4.88	4.88	0.63580	.	1.077550	0.07191	N	0.855801	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	18.4005	0.90514	0.0:1.0:0.0:0.0	.	.	.	.	X	710	.	ENSP00000238789:E710X	E	-	1	0	ATAD2B	23899635	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.445000	0.52921	2.433000	0.82419	0.561000	0.74099	GAA		0.328	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
ATAD2B	54454	broad.mit.edu	37	2	24051805	24051805	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24051805C>A	ENST00000238789.5	-	15	2076	c.1733G>T	c.(1732-1734)aGa>aTa	p.R578I	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	578						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R578I(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTGTTTTCTTGCCTAAGA	0.353																																					p.R578I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1733T	2						.						99.0	93.0	95.0					2																	24051805		1832	4082	5914	23905309	SO:0001583	missense	54454	exon15			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1733G>T	2.37:g.24051805C>A	ENSP00000238789:p.Arg578Ile		23905309	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053573	0.93793	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.95518	-3.73;-3.31	4.7	4.7	0.59300	.	.	.	.	.	D	0.97071	0.9043	M	0.90369	3.11	0.80722	D	1	D	0.53312	0.959	P	0.49361	0.608	D	0.98160	1.0446	9	0.87932	D	0	.	18.5316	0.90995	0.0:1.0:0.0:0.0	.	578	Q9ULI0	ATD2B_HUMAN	I	578;16	ENSP00000238789:R578I;ENSP00000392764:R16I	ENSP00000238789:R578I	R	-	2	0	ATAD2B	23905309	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.730000	0.84881	2.551000	0.86045	0.650000	0.86243	AGA		0.353	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
ATAD2B	54454	broad.mit.edu	37	2	24103529	24103529	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24103529C>T	ENST00000238789.5	-	7	1224	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	294						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R294Q(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTTGGTATCGATCCACTGT	0.368																																					p.R294Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881A	2						.						167.0	148.0	154.0					2																	24103529		1866	4099	5965	23957033	SO:0001583	missense	54454	exon7			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.881G>A	2.37:g.24103529C>T	ENSP00000238789:p.Arg294Gln		23957033	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805413	0.90623	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.92397	-3.03;0.73	5.02	5.02	0.67125	.	.	.	.	.	D	0.95089	0.8409	M	0.64997	1.995	0.50171	D	0.999853	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.922	D	0.93250	0.6634	9	0.24483	T	0.36	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	308;294	C9JG15;Q9ULI0	.;ATD2B_HUMAN	Q	294;146;308	ENSP00000238789:R294Q;ENSP00000403177:R308Q	ENSP00000238789:R294Q	R	-	2	0	ATAD2B	23957033	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.708000	0.74660	2.514000	0.84764	0.650000	0.86243	CGA		0.368	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
ATAD2B	54454	broad.mit.edu	37	2	24110750	24110750	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24110750C>A	ENST00000238789.5	-	4	867	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	175						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.R175I(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTCAAATCTGTTTTTCCT	0.373																																					p.R175I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524T	2						.						139.0	139.0	139.0					2																	24110750		1856	4084	5940	23964254	SO:0001583	missense	54454	exon4			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.524G>T	2.37:g.24110750C>A	ENSP00000238789:p.Arg175Ile		23964254	NM_017552	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657430	0.67586	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	D;T	0.94138	-3.36;0.45	4.36	4.36	0.52297	.	.	.	.	.	D	0.93154	0.7820	M	0.66939	2.045	0.52501	D	0.999959	P;P	0.42010	0.673;0.768	B;B	0.43018	0.405;0.277	D	0.93907	0.7193	9	0.54805	T	0.06	.	17.2634	0.87078	0.0:1.0:0.0:0.0	.	175;175	C9JG15;Q9ULI0	.;ATD2B_HUMAN	I	175;13;175	ENSP00000238789:R175I;ENSP00000403177:R175I	ENSP00000238789:R175I	R	-	2	0	ATAD2B	23964254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.727000	0.61993	2.154000	0.67381	0.563000	0.77884	AGA		0.373	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552	
ILKAP	80895	broad.mit.edu	37	2	239096800	239096800	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:239096800C>T	ENST00000254654.3	-	5	572	c.397G>A	c.(397-399)Gag>Aag	p.E133K		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	133	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E133K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTACACTCCTCGGTGATGTCG	0.567																																					p.E133K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	2						.						127.0	89.0	102.0					2																	239096800		2203	4300	6503	238761539	SO:0001583	missense	80895	exon5			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.397G>A	2.37:g.239096800C>T	ENSP00000254654:p.Glu133Lys		238761539	NM_030768	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478604	0.26511	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.15603	2.41;2.41	5.84	4.95	0.65309	Protein phosphatase 2C-like (5);	0.583736	0.20281	N	0.095449	T	0.11623	0.0283	N	0.20807	0.61	0.34133	D	0.665479	B	0.20052	0.041	B	0.18561	0.022	T	0.15607	-1.0431	10	0.14252	T	0.57	-8.1018	14.1249	0.65213	0.0:0.7027:0.2973:0.0	.	133	Q9H0C8	ILKAP_HUMAN	K	133;131	ENSP00000254654:E133K;ENSP00000395301:E131K	ENSP00000254654:E133K	E	-	1	0	ILKAP	238761539	0.993000	0.37304	0.971000	0.41717	0.957000	0.61999	3.285000	0.51716	1.434000	0.47414	0.655000	0.94253	GAG		0.567	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
HDAC4	9759	broad.mit.edu	37	2	240061476	240061476	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:240061476G>A	ENST00000345617.3	-	9	1673	c.882C>T	c.(880-882)agC>agT	p.S294S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S263S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	294	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S294S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCCTGGGGCGCTGCTGCACG	0.687																																					p.S294S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	2						.						54.0	57.0	56.0					2																	240061476		2203	4300	6503	239726413	SO:0001819	synonymous_variant	9759	exon9			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.882C>T	2.37:g.240061476G>A			239726413	NM_006037	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148243	0.21288	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.47	-7.01	0.01594	.	.	.	.	.	T	0.63319	0.2501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67074	-0.5762	4	.	.	.	.	16.4631	0.84070	0.7607:0.0:0.2393:0.0	.	.	.	.	V	38	.	.	A	-	2	0	HDAC4	239726413	0.001000	0.12720	0.719000	0.30619	0.866000	0.49608	-1.400000	0.02504	-1.629000	0.01546	-0.244000	0.11960	GCG		0.687	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
OR6B3	150681	broad.mit.edu	37	2	240985431	240985431	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:240985431G>A	ENST00000319423.4	-	1	58	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A20V(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CAGCCCTGGGGCCGTGGGGAA	0.592																																					p.A20V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59T	2						.						38.0	42.0	41.0					2																	240985431		2000	4184	6184	240634104	SO:0001583	missense	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.59C>T	2.37:g.240985431G>A	ENSP00000322435:p.Ala20Val		240634104	NM_173351	Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	G	1.987	-0.432664	0.04669	.	.	ENSG00000178586	ENST00000319423	T	0.01099	5.34	4.03	4.03	0.46877	.	1.456400	0.04760	N	0.426073	T	0.00967	0.0032	N	0.10685	0.025	0.30743	N	0.745979	B	0.17268	0.021	B	0.17979	0.02	T	0.25152	-1.0140	10	0.24483	T	0.36	.	7.8514	0.29457	0.1093:0.0:0.8907:0.0	.	20	Q8NGW1	OR6B3_HUMAN	V	20	ENSP00000322435:A20V	ENSP00000322435:A20V	A	-	2	0	OR6B3	240634104	0.000000	0.05858	0.163000	0.22734	0.028000	0.11728	-0.159000	0.10056	2.510000	0.84645	0.511000	0.50034	GCC		0.592	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
C2orf44	80304	broad.mit.edu	37	2	24261280	24261280	+	Missense_Mutation	SNP	T	T	G	rs376816524		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24261280T>G	ENST00000295148.4	-	2	1142	c.1085A>C	c.(1084-1086)aAt>aCt	p.N362T	C2orf44_ENST00000406895.3_Missense_Mutation_p.N362T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	362								p.N362T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAATTATATTACAAGTGTT	0.398			T	ALK	NSCLC																																p.N362T			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1085C	2						.						51.0	55.0	54.0					2																	24261280		2202	4292	6494	24114784	SO:0001583	missense	80304	exon2			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1085A>C	2.37:g.24261280T>G	ENSP00000295148:p.Asn362Thr		24114784	NM_025203	D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388115	0.61956	.	.	ENSG00000163026	ENST00000295148;ENST00000406895	T;T	0.49432	0.78;0.78	5.38	2.99	0.34606	WD40/YVTN repeat-like-containing domain (1);	0.177231	0.64402	D	0.000014	T	0.57051	0.2027	M	0.74258	2.255	0.42369	D	0.992446	D;D	0.64830	0.983;0.994	P;P	0.54544	0.755;0.755	T	0.58440	-0.7636	10	0.72032	D	0.01	-23.86	8.0819	0.30750	0.0:0.2219:0.0:0.7781	.	362;362	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	T	362	ENSP00000295148:N362T;ENSP00000385816:N362T	ENSP00000295148:N362T	N	-	2	0	C2orf44	24114784	1.000000	0.71417	0.004000	0.12327	0.940000	0.58332	3.259000	0.51515	0.448000	0.26722	0.533000	0.62120	AAT		0.398	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203	
OTOS	150677	broad.mit.edu	37	2	241078654	241078654	+	Missense_Mutation	SNP	C	C	T	rs376456799		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:241078654C>T	ENST00000391989.2	-	5	433	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	OTOS_ENST00000319460.1_Missense_Mutation_p.R68Q|MYEOV2_ENST00000607357.1_5'Flank|MYEOV2_ENST00000307266.3_5'Flank			Q8NHW6	OTOSP_HUMAN	otospiralin	68					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.R68Q(1)		endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGAAGGTTCGGGCCATGTC	0.642																																					p.R68Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203A	2						.	C	GLN/ARG	0,4406	2.1+/-5.4	0,0,2203	73.0	74.0	74.0		203	3.5	1.0	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOS	NM_148961.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/90	241078654	1,13005	2203	4300	6503	240727327	SO:0001583	missense	150677	exon4				CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.203G>A	2.37:g.241078654C>T	ENSP00000375849:p.Arg68Gln		240727327	NM_148961	Q53SW6	Missense_Mutation	SNP	ENST00000391989.2	37	CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477925	0.63849	0.0	1.16E-4	ENSG00000178602	ENST00000391989;ENST00000319460	T;T	0.62105	0.05;0.05	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	.	.	.	0.47511	D	0.999445	D	0.89917	1.0	D	0.79108	0.992	T	0.81156	-0.1061	9	0.87932	D	0	-15.6679	12.8596	0.57906	0.0:1.0:0.0:0.0	.	68	Q8NHW6	OTOSP_HUMAN	Q	68	ENSP00000375849:R68Q;ENSP00000322486:R68Q	ENSP00000322486:R68Q	R	-	2	0	OTOS	240727327	1.000000	0.71417	0.999000	0.59377	0.222000	0.24845	6.661000	0.74422	1.688000	0.51068	0.205000	0.17691	CGA		0.642	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961	
SF3B6	51639	broad.mit.edu	37	2	24291225	24291225	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24291225C>A	ENST00000233468.4	-	3	467	c.254G>T	c.(253-255)aGa>aTa	p.R85I		NM_016047.3	NP_057131.1												p.R85I(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAAGGTATCTGTTACAAAC	0.408																																					p.R85I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G254T	2						.						132.0	116.0	121.0					2																	24291225		2203	4300	6503	24144729	SO:0001583	missense	51639	exon3																														ENST00000233468.4:c.254G>T	2.37:g.24291225C>A	ENSP00000233468:p.Arg85Ile		24144729	NM_016047		Missense_Mutation	SNP	ENST00000233468.4	37	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	C	34	5.312069	0.95655	.	.	ENSG00000115128	ENST00000233468	T	0.21031	2.03	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79603	-0.1735	10	0.87932	D	0	-26.1176	19.279	0.94044	0.0:1.0:0.0:0.0	.	85	Q9Y3B4	PM14_HUMAN	I	85	ENSP00000233468:R85I	ENSP00000233468:R85I	R	-	2	0	AC008073.5	24144729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.737000	0.84957	2.729000	0.93468	0.650000	0.86243	AGA		0.408	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1		
CAPN10	11132	broad.mit.edu	37	2	241528855	241528855	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:241528855C>T	ENST00000391984.2	+	2	433	c.237C>T	c.(235-237)tgC>tgT	p.C79C	CAPN10_ENST00000391982.2_Silent_p.C79C|CAPN10_ENST00000352879.4_Intron|CAPN10-AS1_ENST00000567819.1_RNA|CAPN10_ENST00000404753.3_Silent_p.C79C|CAPN10_ENST00000354082.4_Silent_p.C79C|CAPN10_ENST00000270364.7_Silent_p.C79C	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	79	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.C79C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGTGTGCCTGCGCCGCGCTGC	0.627																																					p.C79C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	2						.						62.0	71.0	68.0					2																	241528855		2203	4300	6503	241177528	SO:0001819	synonymous_variant	11132	exon2			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.237C>T	2.37:g.241528855C>T			241177528	NM_023085	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	CCDS42838.1																																																																																				0.627	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083	
SNED1	25992	broad.mit.edu	37	2	241988476	241988476	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:241988476C>T	ENST00000310397.8	+	11	1542	c.1542C>T	c.(1540-1542)tgC>tgT	p.C514C	SNED1_ENST00000401884.1_Silent_p.C514C|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Silent_p.C514C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Silent_p.C514C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	514	Follistatin-like 2.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C514C(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACACACAGTGCCCAGATGGGG	0.582																																					p.C514C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1542T	2						.						35.0	40.0	38.0					2																	241988476		2048	4203	6251	241637149	SO:0001819	synonymous_variant	25992	exon11			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1542C>T	2.37:g.241988476C>T			241637149	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.727|8.727	0.915824|0.915824	0.17907|0.17907	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	5.09|5.09	1.08|1.08	0.20341|0.20341	.|.	.|.	.|.	.|.	.|.	T|T	0.51890|0.51890	0.1701|0.1701	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39210|0.39210	-0.9625|-0.9625	4|4	.|.	.|.	.|.	.|.	5.825|5.825	0.18548|0.18548	0.0:0.4845:0.1418:0.3737|0.0:0.4845:0.1418:0.3737	.|.	.|.	.|.	.|.	V|S	172|211	.|.	.|.	A|P	+|+	2|1	0|0	SNED1|SNED1	241637149|241637149	0.999000|0.999000	0.42202|0.42202	0.953000|0.953000	0.39169|0.39169	0.814000|0.814000	0.46013|0.46013	0.372000|0.372000	0.20467|0.20467	0.309000|0.309000	0.22966|0.22966	0.563000|0.563000	0.77884|0.77884	GCC|CCC		0.582	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
SNED1	25992	broad.mit.edu	37	2	242026869	242026869	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242026869G>A	ENST00000310397.8	+	30	4184	c.4184G>A	c.(4183-4185)aGc>aAc	p.S1395N	SNED1_ENST00000405547.3_Intron|MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Missense_Mutation_p.S1362N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1395					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1375N(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAAAGCACAAGCCTCAAGAAG	0.527																																					p.S1395N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4184A	2						.						40.0	40.0	40.0					2																	242026869		1908	4114	6022	241675542	SO:0001583	missense	25992	exon30			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4184G>A	2.37:g.242026869G>A	ENSP00000308893:p.Ser1395Asn		241675542	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032690	0.35893	.	.	ENSG00000162804	ENST00000310397;ENST00000342631	D;D	0.83075	-1.66;-1.68	4.77	3.86	0.44501	.	0.346611	0.24211	N	0.040522	T	0.69052	0.3068	L	0.27053	0.805	0.09310	N	1	B;B	0.33413	0.281;0.411	B;B	0.33196	0.075;0.159	T	0.56013	-0.8049	10	0.16420	T	0.52	.	8.8641	0.35276	0.0:0.2002:0.6606:0.1391	.	1362;1395	B5MEF5;Q8TER0	.;SNED1_HUMAN	N	1395;1362	ENSP00000308893:S1395N;ENSP00000342992:S1362N	ENSP00000308893:S1395N	S	+	2	0	SNED1	241675542	0.001000	0.12720	0.007000	0.13788	0.199000	0.23934	0.955000	0.29188	2.202000	0.70862	0.561000	0.74099	AGC		0.527	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
MTERF4	130916	broad.mit.edu	37	2	242039151	242039151	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242039151G>A	ENST00000391980.2	-	2	238	c.180C>T	c.(178-180)tcC>tcT	p.S60S	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.S60S|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Silent_p.S60S	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		60					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.S60S(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CATAGTTATTGGATCTAACAC	0.493																																					p.S60S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	2						.						86.0	84.0	84.0					2																	242039151		2203	4300	6503	241687824	SO:0001819	synonymous_variant	130916	exon2																														ENST00000391980.2:c.180C>T	2.37:g.242039151G>A			241687824	NM_182501	A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	CCDS2544.1																																																																																				0.493	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
PASK	23178	broad.mit.edu	37	2	242054563	242054563	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242054563G>T	ENST00000405260.1	-	14	3926	c.3228C>A	c.(3226-3228)ttC>ttA	p.F1076L	PASK_ENST00000475666.1_5'Flank|PASK_ENST00000544142.1_Missense_Mutation_p.F890L|PASK_ENST00000358649.4_Missense_Mutation_p.F1076L|PASK_ENST00000403638.3_Missense_Mutation_p.F1076L|PASK_ENST00000234040.4_Missense_Mutation_p.F1076L|PASK_ENST00000539818.1_Missense_Mutation_p.F860L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1076	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.F1076L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAAGCTGGAAGAACCCTTGGT	0.488																																					p.F1076L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3228A	2						.						64.0	71.0	69.0					2																	242054563		2203	4300	6503	241703236	SO:0001583	missense	23178	exon14			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3228C>A	2.37:g.242054563G>T	ENSP00000384016:p.Phe1076Leu		241703236	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401332	0.83120	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.5	2.17	0.27698	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000037	T	0.63546	0.2520	N	0.21508	0.67	0.45995	D	0.998807	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.80764	0.992;0.994;0.986;0.993;0.992	T	0.64394	-0.6418	10	0.72032	D	0.01	.	9.8955	0.41316	0.3093:0.0:0.6907:0.0	.	1041;890;1076;1076;1076	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	L	1076;890;1076;1076;860;1076	ENSP00000234040:F1076L;ENSP00000441374:F890L;ENSP00000384016:F1076L;ENSP00000351475:F1076L;ENSP00000443083:F860L;ENSP00000384438:F1076L	ENSP00000234040:F1076L	F	-	3	2	PASK	241703236	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	1.541000	0.36126	0.629000	0.30376	0.563000	0.77884	TTC		0.488	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
PPP1R7	5510	broad.mit.edu	37	2	242092955	242092955	+	Silent	SNP	C	C	T	rs200351113		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242092955C>T	ENST00000234038.6	+	2	591	c.117C>T	c.(115-117)atC>atT	p.I39I	PPP1R7_ENST00000407025.1_Silent_p.I39I|PPP1R7_ENST00000401987.1_Intron|PPP1R7_ENST00000406106.3_Silent_p.I39I|PPP1R7_ENST00000404405.3_Silent_p.I39I|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000272983.8_Intron	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	39					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.I39I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GCAGTGGCATCGTGGCCGACC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17610	0.0		0.0	False		,,,				2504	0.0				p.I39I	NSCLC(62;446 1299 5417 11238 27640)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	2						.						113.0	104.0	107.0					2																	242092955		2203	4300	6503	241741628	SO:0001819	synonymous_variant	5510	exon2			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.117C>T	2.37:g.242092955C>T			241741628	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	CCDS2546.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.585	-0.835256	0.02713	.	.	ENSG00000115685	ENST00000450367	.	.	.	4.61	-7.58	0.01313	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41520	-0.9504	4	.	.	.	-2.5855	1.1751	0.01833	0.3864:0.2177:0.2337:0.1622	.	.	.	.	L	20	.	.	S	+	2	0	PPP1R7	241741628	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	-1.618000	0.02049	-1.253000	0.02488	-0.367000	0.07326	TCG		0.577	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
PPP1R7	5510	broad.mit.edu	37	2	242099783	242099783	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242099783C>T	ENST00000234038.6	+	6	945	c.471C>T	c.(469-471)atC>atT	p.I157I	PPP1R7_ENST00000407025.1_Silent_p.I157I|PPP1R7_ENST00000401987.1_Silent_p.I114I|PPP1R7_ENST00000406106.3_Silent_p.I157I|PPP1R7_ENST00000404405.3_Silent_p.I151I|PPP1R7_ENST00000402734.1_Silent_p.I98I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Silent_p.I114I	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	157					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.I157I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGAGAAACATCGAAGGGGTTG	0.338																																					p.I157I	NSCLC(62;446 1299 5417 11238 27640)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C471T	2						.						64.0	65.0	64.0					2																	242099783		2203	4300	6503	241748456	SO:0001819	synonymous_variant	5510	exon6			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.471C>T	2.37:g.242099783C>T			241748456	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337787	0.24253	.	.	ENSG00000115685	ENST00000450367	.	.	.	5.52	-2.58	0.06228	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54957	-0.8215	4	.	.	.	-17.8448	12.4464	0.55653	0.0:0.4552:0.0:0.5448	.	.	.	.	L	132	.	.	S	+	2	0	PPP1R7	241748456	0.516000	0.26218	0.969000	0.41365	0.993000	0.82548	-0.352000	0.07701	-0.765000	0.04645	-0.302000	0.09304	TCG		0.338	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
PPP1R7	5510	broad.mit.edu	37	2	242102743	242102743	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242102743T>G	ENST00000234038.6	+	7	1115	c.641T>G	c.(640-642)tTt>tGt	p.F214C	PPP1R7_ENST00000407025.1_Missense_Mutation_p.F214C|PPP1R7_ENST00000401987.1_Missense_Mutation_p.F171C|PPP1R7_ENST00000406106.3_Missense_Mutation_p.F214C|PPP1R7_ENST00000404405.3_Missense_Mutation_p.F208C|PPP1R7_ENST00000402734.1_Missense_Mutation_p.F155C|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.F171C	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	214					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.F214C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GAGAGTTTGTTTTTGGGGAAA	0.498																																					p.F214C	NSCLC(62;446 1299 5417 11238 27640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T641G	2						.						147.0	159.0	155.0					2																	242102743		2203	4300	6503	241751416	SO:0001583	missense	5510	exon7			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.641T>G	2.37:g.242102743T>G	ENSP00000234038:p.Phe214Cys		241751416	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.352514|4.352514	0.82132|0.82132	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987|ENST00000450367	T;T;T;T;T;T;T;T;T|T	0.24908|0.23552	1.83;1.83;1.83;1.83;1.83;1.83;2.22;1.83;1.83|1.9	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.39784|0.39784	0.1091|0.1091	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;0.999;1.0|.	D;D;D;D;D;D|.	0.85130|.	0.99;0.981;0.98;0.994;0.994;0.997|.	T|T	0.14035|0.14035	-1.0487|-1.0487	10|8	0.66056|0.48119	D|T	0.02|0.1	-13.9365|-13.9365	15.0693|15.0693	0.72024|0.72024	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	198;155;171;214;214;208|.	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8|.	.;.;.;PP1R7_HUMAN;.;.|.	C|V	198;155;155;214;171;214;208;214;171|189	ENSP00000396376:F198C;ENSP00000385012:F155C;ENSP00000412092:F155C;ENSP00000385657:F214C;ENSP00000272983:F171C;ENSP00000234038:F214C;ENSP00000385498:F208C;ENSP00000385022:F214C;ENSP00000385466:F171C|ENSP00000392373:F189V	ENSP00000234038:F214C|ENSP00000392373:F189V	F|F	+|+	2|1	0|0	PPP1R7|PPP1R7	241751416|241751416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.754000|7.754000	0.85163|0.85163	2.015000|2.015000	0.59207|0.59207	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.498	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
PPP1R7	5510	broad.mit.edu	37	2	242122214	242122214	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242122214C>T	ENST00000234038.6	+	10	1533	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	PPP1R7_ENST00000407025.1_Silent_p.I353I|PPP1R7_ENST00000272983.8_Silent_p.I310I	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	353	LRRCT.				positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)	p.I353I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TGCGGCAGATCGATGCCACGT	0.612																																					p.I353I	NSCLC(62;446 1299 5417 11238 27640)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1059T	2						.						105.0	82.0	89.0					2																	242122214		2203	4300	6503	241770887	SO:0001819	synonymous_variant	5510	exon10			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.1059C>T	2.37:g.242122214C>T			241770887	NM_002712	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.172|9.172	1.021390|1.021390	0.19433|0.19433	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000415769|ENST00000450367	.|.	.|.	.|.	5.19|5.19	2.01|2.01	0.26516|0.26516	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53883	.|0.1824	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40924	.|-0.9537	.|4	.|.	.|.	.|.	-19.3984|-19.3984	6.1351|6.1351	0.20227|0.20227	0.1214:0.539:0.0:0.3396|0.1214:0.539:0.0:0.3396	.|.	.|.	.|.	.|.	X|L	75|328	.|.	.|.	R|S	+|+	1|2	2|0	PPP1R7|PPP1R7	241770887|241770887	0.957000|0.957000	0.32711|0.32711	1.000000|1.000000	0.80357|0.80357	0.812000|0.812000	0.45895|0.45895	0.112000|0.112000	0.15479|0.15479	0.108000|0.108000	0.17862|0.17862	-1.595000|-1.595000	0.00837|0.00837	CGA|TCG		0.612	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
ANO7	50636	broad.mit.edu	37	2	242140767	242140767	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242140767A>C	ENST00000274979.8	+	7	874	c.771A>C	c.(769-771)caA>caC	p.Q257H	ANO7_ENST00000402430.3_Missense_Mutation_p.Q256H	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	257					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.Q257H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGAGGCACCAAATTGTGAGTG	0.597																																					p.Q257H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A771C	2						.						95.0	79.0	84.0					2																	242140767		2203	4300	6503	241789440	SO:0001583	missense	50636	exon7			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.771A>C	2.37:g.242140767A>C	ENSP00000274979:p.Gln257His		241789440	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.900269	0.52227	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.67171	-0.25;-0.25	3.76	1.88	0.25563	.	0.575399	0.15860	N	0.241042	T	0.69566	0.3125	M	0.67953	2.075	0.36917	D	0.8912	D	0.60575	0.988	P	0.54664	0.758	T	0.71391	-0.4607	10	0.66056	D	0.02	.	4.8033	0.13307	0.4088:0.0:0.5912:0.0	.	257	Q6IWH7	ANO7_HUMAN	H	257;256	ENSP00000274979:Q257H;ENSP00000385418:Q256H	ENSP00000274979:Q257H	Q	+	3	2	ANO7	241789440	0.310000	0.24527	0.977000	0.42913	0.900000	0.52787	-0.749000	0.04813	0.543000	0.28864	0.260000	0.18958	CAA		0.597	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
ANO7	50636	broad.mit.edu	37	2	242162653	242162653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242162653C>A	ENST00000274979.8	+	22	2639	c.2536C>A	c.(2536-2538)Ctt>Att	p.L846I	ANO7_ENST00000402430.3_Missense_Mutation_p.L845I	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	846					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.L846I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTACTGGAATCTTCTTGCCAT	0.587																																					p.L846I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2536A	2						.						249.0	212.0	225.0					2																	242162653		2203	4300	6503	241811326	SO:0001583	missense	50636	exon22			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2536C>A	2.37:g.242162653C>A	ENSP00000274979:p.Leu846Ile		241811326	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.96|11.96	1.793391|1.793391	0.31685|0.31685	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000274979;ENST00000402430|ENST00000451047	T;T|.	0.63096|.	-0.02;-0.02|.	3.6|3.6	3.6|3.6	0.41247|0.41247	.|.	0.703959|.	0.12561|.	N|.	0.458172|.	T|T	0.41971|0.41971	0.1182|0.1182	L|L	0.33093|0.33093	0.98|0.98	0.33003|0.33003	D|D	0.526516|0.526516	D|.	0.69078|.	0.997|.	D|.	0.71656|.	0.974|.	T|T	0.52283|0.52283	-0.8596|-0.8596	10|5	0.17369|.	T|.	0.5|.	.|.	10.6055|10.6055	0.45392|0.45392	0.1927:0.8073:0.0:0.0|0.1927:0.8073:0.0:0.0	.|.	846|.	Q6IWH7|.	ANO7_HUMAN|.	I|Y	846;845|158	ENSP00000274979:L846I;ENSP00000385418:L845I|.	ENSP00000274979:L846I|.	L|S	+|+	1|2	0|0	ANO7|ANO7	241811326|241811326	0.519000|0.519000	0.26242|0.26242	0.669000|0.669000	0.29828|0.29828	0.497000|0.497000	0.33675|0.33675	1.154000|1.154000	0.31688|0.31688	1.719000|1.719000	0.51432|0.51432	0.467000|0.467000	0.42956|0.42956	CTT|TCT		0.587	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
HDLBP	3069	broad.mit.edu	37	2	242169675	242169675	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242169675G>A	ENST00000391975.1	-	26	3711	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C	HDLBP_ENST00000427183.2_Missense_Mutation_p.R1129C|HDLBP_ENST00000310931.4_Missense_Mutation_p.R1162C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R1162C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1162	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R1162C(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTGGGAAGCGAATGTCCACC	0.527																																					p.R1162C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3484T	2						.						53.0	52.0	52.0					2																	242169675		2203	4300	6503	241818348	SO:0001583	missense	3069	exon26				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3484C>T	2.37:g.242169675G>A	ENSP00000375836:p.Arg1162Cys		241818348	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052241	0.55218	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000442730	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.91	3.18	0.36537	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.043242	0.85682	N	0.000000	T	0.51702	0.1690	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.51601	-0.8685	10	0.87932	D	0	-9.7325	11.3115	0.49366	0.195:0.0:0.805:0.0	.	1129;1162	E7EM71;Q00341	.;VIGLN_HUMAN	C	1162;1162;1162;1129;26	ENSP00000375836:R1162C;ENSP00000375837:R1162C;ENSP00000312042:R1162C;ENSP00000399139:R1129C;ENSP00000411211:R26C	ENSP00000312042:R1162C	R	-	1	0	HDLBP	241818348	1.000000	0.71417	0.930000	0.37139	0.125000	0.20455	4.597000	0.61062	0.420000	0.25954	-0.150000	0.13652	CGC		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
FARP2	9855	broad.mit.edu	37	2	242407590	242407590	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242407590C>T	ENST00000264042.3	+	18	2099	c.1929C>T	c.(1927-1929)gtC>gtT	p.V643V		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	643	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		V -> I (in dbSNP:rs41342147).		actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V643V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ATGACGAGGTCCTAACAGAAC	0.522																																					p.V643V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1929T	2						.						166.0	168.0	167.0					2																	242407590		2203	4300	6503	242056263	SO:0001819	synonymous_variant	9855	exon18			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1929C>T	2.37:g.242407590C>T			242056263	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	CCDS33424.1																																																																																				0.522	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
TMEM18	129787	broad.mit.edu	37	2	669830	669830	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:669830T>C	ENST00000281017.3	-	4	347	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	TMEM18_ENST00000405941.3_Missense_Mutation_p.Y88C|TMEM18_ENST00000355654.2_Missense_Mutation_p.Y72C	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	85					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.Y85C(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GGAGTCGAAATACTGGTATTT	0.358																																					p.Y85C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A254G	2						.						61.0	62.0	62.0					2																	669830		2203	4300	6503	659830	SO:0001583	missense	129787	exon4			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.254A>G	2.37:g.669830T>C	ENSP00000281017:p.Tyr85Cys		659830	NM_152834	D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	ENST00000281017.3	37	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050590	0.55218	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82393	0.5027	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86103	0.1557	9	0.87932	D	0	-14.1017	12.4143	0.55483	0.0:0.0:0.0:1.0	.	85	Q96B42	TMM18_HUMAN	C	85;72;88	.	ENSP00000281017:Y85C	Y	-	2	0	TMEM18	659830	1.000000	0.71417	0.996000	0.52242	0.254000	0.26022	6.597000	0.74118	2.185000	0.69588	0.449000	0.29647	TAT		0.358	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834	
TRAPPC12	51112	broad.mit.edu	37	2	3405575	3405575	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:3405575C>T	ENST00000324266.5	+	3	1270	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R359C	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	359					vesicle-mediated transport (GO:0016192)			p.R359C(1)									CTTGATGCTTCGCTTTCTGGG	0.393																																					p.R359C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	2						.						164.0	162.0	163.0					2																	3405575		2203	4300	6503	3384582	SO:0001583	missense	51112	exon3			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1075C>T	2.37:g.3405575C>T	ENSP00000324318:p.Arg359Cys		3384582	NM_016030	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.794064	0.50102	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.53423	0.62;0.62	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	T	0.71636	-0.4533	10	0.72032	D	0.01	.	17.7305	0.88376	0.0:1.0:0.0:0.0	.	342;359	E7ENL7;Q8WVT3	.;TPC12_HUMAN	C	359;342;359	ENSP00000371544:R359C;ENSP00000324318:R359C	ENSP00000303612:R342C	R	+	1	0	TTC15	3384582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.869000	0.75521	2.605000	0.88082	0.655000	0.94253	CGC		0.393	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
ALLC	55821	broad.mit.edu	37	2	3743375	3743375	+	Nonsense_Mutation	SNP	G	G	T	rs372781677		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:3743375G>T	ENST00000252505.3	+	8	742	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	213					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.E194*(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGACCCCAAAGAACCTGCAGA	0.428										HNSCC(21;0.051)																											p.E194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G580T	2						.	G	stop/GLU	0,3790		0,0,1895	97.0	97.0	97.0		580	5.4	0.1	2		97	1,8203		0,1,4101	no	stop-gained	ALLC	NM_018436.3		0,1,5996	TT,TG,GG		0.0122,0.0,0.0083		194/392	3743375	1,11993	1895	4102	5997	3721250	SO:0001587	stop_gained	55821	exon8			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.580G>T	2.37:g.3743375G>T	ENSP00000252505:p.Glu194*		3721250	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	37	6.434736	0.97564	0.0	1.22E-4	ENSG00000151360	ENST00000252505	.	.	.	5.42	5.42	0.78866	.	0.256882	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-27.592	16.7056	0.85371	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000252505:E194X	E	+	1	0	ALLC	3721250	1.000000	0.71417	0.139000	0.22197	0.619000	0.37552	4.199000	0.58426	2.554000	0.86153	0.561000	0.74099	GAA		0.428	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
CMPK2	129607	broad.mit.edu	37	2	7001396	7001396	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:7001396C>A	ENST00000256722.5	-	3	910	c.911G>T	c.(910-912)aGa>aTa	p.R304I	CMPK2_ENST00000458098.1_Missense_Mutation_p.R304I|CMPK2_ENST00000404168.1_Missense_Mutation_p.R304I|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	304					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.R304I(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTAAAAAGCTCTTCTAATGAT	0.418																																					p.R304I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G911T	2						.						117.0	107.0	110.0					2																	7001396		1898	4117	6015	6918847	SO:0001583	missense	129607	exon3				CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.911G>T	2.37:g.7001396C>A	ENSP00000256722:p.Arg304Ile		6918847	NM_207315	A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121787	0.94385	.	.	ENSG00000134326	ENST00000458098;ENST00000256722;ENST00000404168	D;D;D	0.94092	-3.35;-3.35;-3.35	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97509	1.0065	10	0.72032	D	0.01	-11.3612	19.2026	0.93717	0.0:1.0:0.0:0.0	.	304;304	Q5EBM0-3;Q5EBM0	.;CMPK2_HUMAN	I	304	ENSP00000396385:R304I;ENSP00000256722:R304I;ENSP00000384915:R304I	ENSP00000256722:R304I	R	-	2	0	CMPK2	6918847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.124000	0.77185	2.535000	0.85469	0.563000	0.77884	AGA		0.418	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	
RNF144A	9781	broad.mit.edu	37	2	7154894	7154894	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:7154894T>A	ENST00000320892.6	+	5	734	c.292T>A	c.(292-294)Ttt>Att	p.F98I	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	98					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F98I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAAGCTACAATTTGAAAGAGG	0.373																																					p.F98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T292A	2						.						106.0	109.0	108.0					2																	7154894		2203	4300	6503	7072345	SO:0001583	missense	9781	exon5			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.292T>A	2.37:g.7154894T>A	ENSP00000321330:p.Phe98Ile		7072345	NM_014746	D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.111505|4.111505	0.77210|0.77210	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.80480|.	-1.38|.	5.52|5.52	4.37|4.37	0.52481|0.52481	Zinc finger, C6HC-type (2);|.	0.131604|.	0.64402|.	D|.	0.000001|.	T|T	0.59972|0.59972	0.2233|0.2233	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B|.	0.26445|.	0.149|.	B|.	0.28385|.	0.089|.	T|T	0.56282|0.56282	-0.8005|-0.8005	10|5	0.28530|.	T|.	0.3|.	.|.	11.3655|11.3655	0.49668|0.49668	0.0:0.0708:0.0:0.9292|0.0:0.0708:0.0:0.9292	.|.	98|.	P50876|.	R144A_HUMAN|.	I|K	98|93	ENSP00000321330:F98I|.	ENSP00000321330:F98I|.	F|N	+|+	1|3	0|2	RNF144A|RNF144A	7072345|7072345	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.986000|0.986000	0.74619|0.74619	7.218000|7.218000	0.77991|0.77991	1.038000|1.038000	0.40049|0.40049	0.533000|0.533000	0.62120|0.62120	TTT|AAT		0.373	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	
KIDINS220	57498	broad.mit.edu	37	2	8871684	8871684	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:8871684C>A	ENST00000256707.3	-	30	4663	c.4482G>T	c.(4480-4482)aaG>aaT	p.K1494N	KIDINS220_ENST00000473731.1_Missense_Mutation_p.K1475N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K1475N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K1395N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1494					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.K1494N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGGAAGATTTCTTGCCTGGGA	0.483																																					p.K1494N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4482T	2						.						55.0	56.0	55.0					2																	8871684		1882	4102	5984	8789135	SO:0001583	missense	57498	exon30			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4482G>T	2.37:g.8871684C>A	ENSP00000256707:p.Lys1494Asn		8789135	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.743746	0.49151	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.69435	-0.4;-0.39;-0.36;-0.39	5.92	4.12	0.48240	.	0.629622	0.18325	N	0.144676	T	0.60792	0.2296	N	0.24115	0.695	0.36468	D	0.867084	B;B;P	0.49090	0.127;0.078;0.919	B;B;P	0.49561	0.135;0.083;0.615	T	0.68205	-0.5470	10	0.72032	D	0.01	.	11.9321	0.52853	0.0:0.8119:0.1225:0.0656	.	1395;1494;348	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	N	1494;1475;1395;1475	ENSP00000256707:K1494N;ENSP00000411849:K1475N;ENSP00000414923:K1395N;ENSP00000418974:K1475N	ENSP00000256707:K1494N	K	-	3	2	KIDINS220	8789135	1.000000	0.71417	0.981000	0.43875	0.911000	0.54048	3.826000	0.55738	0.831000	0.34780	0.655000	0.94253	AAG		0.483	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
MBOAT2	129642	broad.mit.edu	37	2	9000883	9000883	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:9000883G>T	ENST00000305997.3	-	12	1395	c.1197C>A	c.(1195-1197)aaC>aaA	p.N399K	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	399					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.N399K(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATGTCTAAAGTTATTTCTCA	0.299																																					p.N399K	Ovarian(194;1699 3813 22401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1197A	2						.						49.0	47.0	48.0					2																	9000883		2203	4292	6495	8918334	SO:0001583	missense	129642	exon12			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1197C>A	2.37:g.9000883G>T	ENSP00000302177:p.Asn399Lys		8918334	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234276	0.58886	.	.	ENSG00000143797	ENST00000305997	T	0.72282	-0.64	5.96	3.18	0.36537	.	0.041338	0.85682	N	0.000000	T	0.75184	0.3815	L	0.58810	1.83	0.51767	D	0.999939	D	0.63046	0.992	D	0.66351	0.943	T	0.70215	-0.4933	10	0.34782	T	0.22	-23.8809	5.4193	0.16392	0.3165:0.0:0.5538:0.1298	.	399	Q6ZWT7	MBOA2_HUMAN	K	399	ENSP00000302177:N399K	ENSP00000302177:N399K	N	-	3	2	MBOAT2	8918334	1.000000	0.71417	0.634000	0.29324	0.954000	0.61252	2.169000	0.42434	0.408000	0.25621	-0.182000	0.12963	AAC		0.299	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
MBOAT2	129642	broad.mit.edu	37	2	9098719	9098719	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:9098719C>T	ENST00000305997.3	-	2	326	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	43					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R43Q(2)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGATAAGTTCGAAACCAAAT	0.358																																					p.R43Q	Ovarian(194;1699 3813 22401)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G128A	2						.						70.0	71.0	71.0					2																	9098719		2203	4300	6503	9016170	SO:0001583	missense	129642	exon2			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.128G>A	2.37:g.9098719C>T	ENSP00000302177:p.Arg43Gln		9016170	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041664	0.93685	.	.	ENSG00000143797	ENST00000305997	T	0.12465	2.68	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55774	-0.8088	10	0.72032	D	0.01	-4.7565	17.4628	0.87624	0.0:0.8759:0.1241:0.0	.	43;43	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	Q	43	ENSP00000302177:R43Q	ENSP00000302177:R43Q	R	-	2	0	MBOAT2	9016170	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.409000	0.80053	1.547000	0.49401	0.655000	0.94253	CGA		0.358	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
CPSF3	51692	broad.mit.edu	37	2	9593094	9593094	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:9593094G>T	ENST00000238112.3	+	12	1654	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	CPSF3_ENST00000460593.1_Missense_Mutation_p.G446V	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	483					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.G483V(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CGGGTCTCAGGAATACTTGTT	0.348																																					p.G483V	Colon(194;1259 2048 3845 5218 19985)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1448T	2						.						55.0	53.0	54.0					2																	9593094		2203	4299	6502	9510545	SO:0001583	missense	51692	exon12			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1448G>T	2.37:g.9593094G>T	ENSP00000238112:p.Gly483Val		9510545	NM_016207	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864412	0.91511	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.69306	-0.39;-0.36	5.87	5.87	0.94306	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.114776	0.64402	D	0.000018	D	0.86234	0.5884	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87947	0.2721	10	0.87932	D	0	-16.2305	20.2181	0.98305	0.0:0.0:1.0:0.0	.	434;483	E7ER23;Q9UKF6	.;CPSF3_HUMAN	V	483;205;434;446	ENSP00000238112:G483V;ENSP00000418957:G446V	ENSP00000238112:G483V	G	+	2	0	CPSF3	9510545	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.658000	0.98594	2.785000	0.95823	0.655000	0.94253	GGA		0.348	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207	
ADAM17	6868	broad.mit.edu	37	2	9666362	9666362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:9666362G>A	ENST00000310823.3	-	6	813	c.631C>T	c.(631-633)Cga>Tga	p.R211*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.R211*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	211					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R211*(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTTTCACTCGATGAACAAGC	0.358																																					p.R211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C631T	2						.						144.0	127.0	133.0					2																	9666362		2203	4300	6503	9583813	SO:0001587	stop_gained	6868	exon6			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.631C>T	2.37:g.9666362G>A	ENSP00000309968:p.Arg211*		9583813	NM_003183	O60226	Nonsense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709999	0.97780	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	.	.	.	5.35	5.35	0.76521	.	0.114561	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4198	0.94716	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000309968:R211X	R	-	1	2	ADAM17	9583813	1.000000	0.71417	0.711000	0.30485	0.983000	0.72400	5.358000	0.66064	2.665000	0.90641	0.585000	0.79938	CGA		0.358	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
FAM228A	653140	broad.mit.edu	37	2	24413339	24413339	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24413339G>A	ENST00000295150.3	+	6	546	c.460G>A	c.(460-462)Gac>Aac	p.D154N		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	154								p.D154N(1)									AAAGACGGCCGACCTAAGTCA	0.458																																					p.D154N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G460A	2						.						49.0	50.0	50.0					2																	24413339		1880	4100	5980	24266843	SO:0001583	missense	653140	exon6				CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.460G>A	2.37:g.24413339G>A	ENSP00000295150:p.Asp154Asn		24266843	NM_001040710		Missense_Mutation	SNP	ENST00000295150.3	37	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362046	0.41902	.	.	ENSG00000186453	ENST00000295150;ENST00000415196	T;T	0.47528	0.86;0.84	3.64	0.854	0.19007	.	0.356629	0.20561	N	0.089907	T	0.18759	0.0450	N	0.04959	-0.14	0.09310	N	1	B	0.27791	0.189	B	0.20184	0.028	T	0.17715	-1.0360	10	0.15952	T	0.53	3.0656	5.4725	0.16678	0.3768:0.0:0.6232:0.0	.	154	Q86W67	CB084_HUMAN	N	154;55	ENSP00000295150:D154N;ENSP00000416595:D55N	ENSP00000295150:D154N	D	+	1	0	C2orf84	24266843	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.410000	0.21098	0.166000	0.19597	-0.143000	0.13931	GAC		0.458	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710	
ITSN2	50618	broad.mit.edu	37	2	24498709	24498709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24498709C>A	ENST00000355123.4	-	18	2397	c.1954G>T	c.(1954-1956)Gaa>Taa	p.E652*	SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E625*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.E652*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	652					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.E651*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTAGGTTTCTCTCAGTTCC	0.318																																					p.E625X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1873T	2						.						125.0	119.0	121.0					2																	24498709		2203	4300	6503	24352213	SO:0001587	stop_gained	50618	exon17			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1954G>T	2.37:g.24498709C>A	ENSP00000347244:p.Glu652*		24352213	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	41	8.940039	0.99010	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.69	4.82	0.62117	.	0.187754	0.24525	U	0.037762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.0114	0.71552	0.0:0.9316:0.0:0.0683	.	.	.	.	X	625;652;625;652	.	ENSP00000347244:E652X	E	-	1	0	ITSN2	24352213	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.455000	0.52993	1.555000	0.49500	0.650000	0.86243	GAA		0.318	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
ITSN2	50618	broad.mit.edu	37	2	24521590	24521590	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24521590C>A	ENST00000355123.4	-	13	1881	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.E480*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.E480*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	480					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.E479*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACAATTTCTTCTTGTTCT	0.388																																					p.E480X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1438T	2						.						157.0	155.0	156.0					2																	24521590		2203	4300	6503	24375094	SO:0001587	stop_gained	50618	exon13			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1438G>T	2.37:g.24521590C>A	ENSP00000347244:p.Glu480*		24375094	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	40	8.055304	0.98632	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	5.24	5.24	0.73138	.	0.186790	0.24666	U	0.036598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.1951	0.93684	0.0:1.0:0.0:0.0	.	.	.	.	X	480;480;480;504;480;505	.	ENSP00000347244:E480X	E	-	1	0	ITSN2	24375094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.366000	0.59492	2.628000	0.89032	0.484000	0.47621	GAA		0.388	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
ITSN2	50618	broad.mit.edu	37	2	24526719	24526719	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24526719C>A	ENST00000355123.4	-	9	1249	c.806G>T	c.(805-807)aGa>aTa	p.R269I	ITSN2_ENST00000361999.3_Missense_Mutation_p.R269I|ITSN2_ENST00000406921.3_Missense_Mutation_p.R269I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	269	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.R268I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGGCATTTCTAGCTTGAAA	0.303																																					p.R269I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G806T	2						.						85.0	88.0	87.0					2																	24526719		2203	4300	6503	24380223	SO:0001583	missense	50618	exon9			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.806G>T	2.37:g.24526719C>A	ENSP00000347244:p.Arg269Ile		24380223	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288918	0.80914	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	4.81	4.81	0.61882	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.40385	U	0.001111	T	0.54334	0.1852	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.992;0.992;0.992;0.997	T	0.57271	-0.7840	10	0.87932	D	0	.	12.8407	0.57800	0.0:0.9212:0.0:0.0788	.	269;269;269;269	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	I	269;269;269;293;269;294	ENSP00000354561:R269I;ENSP00000347244:R269I;ENSP00000370250:R269I;ENSP00000384499:R269I;ENSP00000391224:R294I	ENSP00000347244:R269I	R	-	2	0	ITSN2	24380223	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.298000	0.59067	2.674000	0.91012	0.491000	0.48974	AGA		0.303	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
NCOA1	8648	broad.mit.edu	37	2	24962316	24962316	+	Missense_Mutation	SNP	C	C	T	rs138247764		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:24962316C>T	ENST00000406961.1	+	18	3869	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	NCOA1_ENST00000288599.5_Missense_Mutation_p.R1073W|NCOA1_ENST00000395856.3_Missense_Mutation_p.R1073W|NCOA1_ENST00000407230.1_Missense_Mutation_p.R922W|NCOA1_ENST00000538539.1_Missense_Mutation_p.R1073W|NCOA1_ENST00000348332.3_Missense_Mutation_p.R1073W|NCOA1_ENST00000405141.1_Missense_Mutation_p.R1073W			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1073	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.R1073W(3)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACCAAAATCGGCAAGCTAT	0.368			T	PAX3	alveolar rhadomyosarcoma																																p.R1073W			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	.	3	Substitution - Missense(3)	large_intestine(2)|skin(1)	c.C3217T	2						.						129.0	119.0	123.0					2																	24962316		2203	4300	6503	24815820	SO:0001583	missense	8648	exon16			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3217C>T	2.37:g.24962316C>T	ENSP00000385216:p.Arg1073Trp		24815820	NM_003743	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308010	0.81247	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.77	4.88	0.63580	.	0.058137	0.64402	D	0.000002	T	0.71736	0.3375	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.69078	0.997;0.995;0.997;0.995	P;P;P;P	0.56474	0.799;0.635;0.799;0.635	T	0.77197	-0.2676	10	0.87932	D	0	.	16.6848	0.85302	0.0:0.87:0.13:0.0	.	1073;1073;1073;922	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	W	1073;1073;922;1073;1073;1073;1073	ENSP00000385216:R1073W;ENSP00000385097:R1073W;ENSP00000385195:R922W;ENSP00000444039:R1073W;ENSP00000320940:R1073W;ENSP00000288599:R1073W;ENSP00000379197:R1073W	ENSP00000288599:R1073W	R	+	1	2	NCOA1	24815820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.002000	0.57053	1.543000	0.49345	0.655000	0.94253	CGG		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
PTRHD1	391356	broad.mit.edu	37	2	25016120	25016120	+	Missense_Mutation	SNP	G	G	A	rs545737721	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25016120G>A	ENST00000328379.5	-	1	131	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	PTRHD1_ENST00000487316.1_5'Flank|CENPO_ENST00000473706.1_5'UTR|CENPO_ENST00000380834.2_5'UTR|CENPO_ENST00000260662.1_5'Flank	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	43						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)	p.P43S(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						GCGCCCGCCGGCCAGGAGAAC	0.647																																					p.P43S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C127T	2						.						61.0	65.0	63.0					2																	25016120		2203	4300	6503	24869624	SO:0001583	missense	391356	exon1				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.127C>T	2.37:g.25016120G>A	ENSP00000330389:p.Pro43Ser		24869624	NM_001013663		Missense_Mutation	SNP	ENST00000328379.5	37	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	G	36	5.697887	0.96802	.	.	ENSG00000184924	ENST00000328379	T	0.09538	2.97	6.06	6.06	0.98353	Peptidyl-tRNA hydrolase II domain (2);	0.111999	0.64402	D	0.000008	T	0.30103	0.0754	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.00039	-1.2239	10	0.54805	T	0.06	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	43	Q6GMV3	PTRD1_HUMAN	S	43	ENSP00000330389:P43S	ENSP00000330389:P43S	P	-	1	0	PTRHD1	24869624	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.308000	0.89966	2.882000	0.98803	0.655000	0.94253	CCG		0.647	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663	
CENPO	79172	broad.mit.edu	37	2	25039527	25039527	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25039527G>T	ENST00000380834.2	+	6	1032	c.607G>T	c.(607-609)Gcc>Tcc	p.A203S	CENPO_ENST00000395845.2_Intron|CENPO_ENST00000473706.1_Missense_Mutation_p.A197S|CENPO_ENST00000260662.1_Missense_Mutation_p.A203S			Q9BU64	CENPO_HUMAN	centromere protein O	203					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A203S(1)		breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGACTTTGCAGCCCTCCTGAC	0.488																																					p.A197S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589T	2						.						357.0	366.0	363.0					2																	25039527		2203	4300	6503	24893031	SO:0001583	missense	79172	exon5			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.607G>T	2.37:g.25039527G>T	ENSP00000370214:p.Ala203Ser		24893031	NM_001199803	B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	ENST00000380834.2	37	CCDS1714.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167913	0.57476	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.42131	0.98;0.99;0.98	6.08	4.25	0.50352	.	0.518099	0.18416	N	0.141888	T	0.36054	0.0953	L	0.60455	1.87	0.24003	N	0.996208	P;B	0.35872	0.525;0.39	B;B	0.33454	0.164;0.079	T	0.13602	-1.0503	10	0.21014	T	0.42	-12.9614	10.7335	0.46111	0.068:0.0:0.7994:0.1326	.	197;203	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	S	203;197;203	ENSP00000370214:A203S;ENSP00000417787:A197S;ENSP00000260662:A203S	ENSP00000260662:A203S	A	+	1	0	CENPO	24893031	0.216000	0.23585	0.942000	0.38095	0.990000	0.78478	2.461000	0.45040	0.868000	0.35678	0.655000	0.94253	GCC		0.488	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322	
DNMT3A	1788	broad.mit.edu	37	2	25458668	25458668	+	Silent	SNP	C	C	T	rs138445723	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25458668C>T	ENST00000264709.3	-	22	2842	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	DNMT3A_ENST00000380746.4_Silent_p.T646T|DNMT3A_ENST00000402667.1_Silent_p.T612T|DNMT3A_ENST00000321117.5_Silent_p.T835T|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	835	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.T835T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTTGACCTCGTAGTAATGG	0.443			"""Mis, F, N, S"""		AML																																p.T835T			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2505A	2						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	175.0	158.0	164.0		2505,1938,2505	-5.8	0.9	2	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	835/913,646/724,835/913	25458668	2,13004	2203	4300	6503	25312172	SO:0001819	synonymous_variant	1788	exon22				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2505G>A	2.37:g.25458668C>T			25312172	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	CCDS33157.1																																																																																				0.443	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
DNMT3A	1788	broad.mit.edu	37	2	25462057	25462057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25462057C>A	ENST00000264709.3	-	20	2687	c.2350G>T	c.(2350-2352)Gaa>Taa	p.E784*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E595*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E561*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E784*|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	784	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.E784*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGACACTTCTTTGGCATCA	0.577			"""Mis, F, N, S"""		AML																																p.E784X			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2350T	2						.						69.0	62.0	64.0					2																	25462057		2203	4300	6503	25315561	SO:0001587	stop_gained	1788	exon20				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2350G>T	2.37:g.25462057C>A	ENSP00000264709:p.Glu784*		25315561	NM_175629	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.458116	0.98820	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-6.9598	12.2239	0.54449	0.0:0.917:0.0:0.083	.	.	.	.	X	595;784;784;561	.	ENSP00000264709:E784X	E	-	1	0	DNMT3A	25315561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.201000	0.51059	1.317000	0.45149	0.561000	0.74099	GAA		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552	
DTNB	1838	broad.mit.edu	37	2	25861939	25861939	+	Missense_Mutation	SNP	C	C	T	rs189303418	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25861939C>T	ENST00000406818.3	-	3	341	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNB_ENST00000407186.1_Missense_Mutation_p.R31Q|DTNB_ENST00000407661.3_Missense_Mutation_p.R31Q|DTNB_ENST00000405222.1_Missense_Mutation_p.R31Q|DTNB_ENST00000407038.3_Missense_Mutation_p.R31Q|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R31Q|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000404103.3_Missense_Mutation_p.R31Q	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	31						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R31Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGATAGTCGTATGACATC	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		19914	0.0		0.002	False		,,,				2504	0.0				p.R31Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92A	2						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3721		0,1,1860	78.0	75.0	76.0		92,92,92,92,92	6.0	1.0	2		76	4,8212		0,4,4104	yes	missense,missense,missense,missense,missense	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	43,43,43,43,43	0,5,5964	TT,TC,CC		0.0487,0.0269,0.0419	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	31/628,31/598,31/568,31/610,31/561	25861939	5,11933	1861	4108	5969	25715443	SO:0001583	missense	1838	exon3			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.92G>A	2.37:g.25861939C>T	ENSP00000384084:p.Arg31Gln		25715443	NM_183360	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	CCDS46237.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	34	5.333103	0.95758	2.69E-4	4.87E-4	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.96	5.96	0.96718	EF-hand domain, type 1 (1);	0.084351	0.56097	D	0.000026	D	0.86912	0.6047	M	0.88570	2.965	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.83275	0.989;0.947;0.996;0.974;0.987;0.976;0.939;0.964	D	0.88524	0.3098	10	0.87932	D	0	-7.4068	17.1412	0.86754	0.0:1.0:0.0:0.0	.	31;31;31;31;31;31;31;31	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	Q	31	ENSP00000384084:R31Q;ENSP00000385482:R31Q;ENSP00000385193:R31Q;ENSP00000384767:R31Q;ENSP00000384787:R31Q;ENSP00000385784:R31Q;ENSP00000288642:R31Q;ENSP00000306529:R31Q;ENSP00000340957:R31Q	ENSP00000288642:R31Q	R	-	2	0	DTNB	25715443	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.479000	0.73600	2.832000	0.97577	0.655000	0.94253	CGA		0.373	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147	
ASXL2	55252	broad.mit.edu	37	2	25965541	25965541	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:25965541G>A	ENST00000435504.4	-	13	3958	c.3665C>T	c.(3664-3666)aCc>aTc	p.T1222I	ASXL2_ENST00000404843.1_Missense_Mutation_p.T705I|ASXL2_ENST00000336112.4_Missense_Mutation_p.T1194I|ASXL2_ENST00000272341.4_Missense_Mutation_p.T705I			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1222					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.T1222I(1)|p.T705I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAATCACTGGTAGATAGAGT	0.473																																					p.T1222I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3665T	2						.						91.0	87.0	88.0					2																	25965541		1954	4156	6110	25819045	SO:0001583	missense	55252	exon12					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3665C>T	2.37:g.25965541G>A	ENSP00000391447:p.Thr1222Ile		25819045	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	7.656	0.683956	0.14907	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	6.01	1.93	0.25924	.	0.762727	0.13351	N	0.394390	T	0.19446	0.0467	M	0.65975	2.015	0.09310	N	1	B;B	0.29432	0.244;0.006	B;B	0.29176	0.099;0.005	T	0.26052	-1.0114	10	0.27785	T	0.31	-4.0539	4.3539	0.11169	0.0737:0.2433:0.433:0.25	.	705;1222	Q76L83-2;Q76L83	.;ASXL2_HUMAN	I	1222;1194;705;705	ENSP00000391447:T1222I;ENSP00000337250:T1194I;ENSP00000383920:T705I;ENSP00000272341:T705I	ENSP00000272341:T705I	T	-	2	0	ASXL2	25819045	0.036000	0.19791	0.125000	0.21846	0.810000	0.45777	0.387000	0.20718	0.066000	0.16515	0.650000	0.86243	ACC		0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
HADHA	3030	broad.mit.edu	37	2	26432731	26432731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:26432731C>A	ENST00000380649.3	-	11	1132	c.1003G>T	c.(1003-1005)Gaa>Taa	p.E335*		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	335					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.E335*(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)					GCCTTTGATTCTTTGGTCATT	0.398																																					p.E335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1003T	2						.						108.0	110.0	110.0					2																	26432731		2203	4300	6503	26286235	SO:0001587	stop_gained	3030	exon11			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.1003G>T	2.37:g.26432731C>A	ENSP00000370023:p.Glu335*		26286235	NM_000182	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Nonsense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	C	39	7.430239	0.98279	.	.	ENSG00000084754	ENST00000380649	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.5237	19.1882	0.93653	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000370023:E335X	E	-	1	0	HADHA	26286235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.783000	0.85696	2.879000	0.98667	0.650000	0.86243	GAA		0.398	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
EPT1	85465	broad.mit.edu	37	2	26607835	26607835	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:26607835A>T	ENST00000260585.7	+	8	859	c.740A>T	c.(739-741)aAa>aTa	p.K247I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	247					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.K247I(1)									AGAAGCTATAAAAATAACACC	0.308																																					p.K247I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A740T	2						.						95.0	87.0	89.0					2																	26607835		1809	4069	5878	26461339	SO:0001583	missense	85465	exon8				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.740A>T	2.37:g.26607835A>T	ENSP00000260585:p.Lys247Ile		26461339	NM_033505	Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999818	0.54147	.	.	ENSG00000138018	ENST00000260585;ENST00000447170	T	0.51325	0.71	5.97	1.16	0.20824	.	0.101188	0.64402	D	0.000005	T	0.44685	0.1305	M	0.79805	2.47	0.42975	D	0.994441	P	0.34864	0.473	B	0.34991	0.193	T	0.33137	-0.9880	10	0.22706	T	0.39	-25.1497	8.9112	0.35555	0.6423:0.0:0.3577:0.0	.	247	Q9C0D9	EPT1_HUMAN	I	247;123	ENSP00000260585:K247I	ENSP00000260585:K247I	K	+	2	0	EPT1	26461339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.789000	0.47813	0.515000	0.28320	0.528000	0.53228	AAA		0.308	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2	
OTOF	9381	broad.mit.edu	37	2	26683797	26683797	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:26683797A>G	ENST00000272371.2	-	44	5761	c.5635T>C	c.(5635-5637)Tcc>Ccc	p.S1879P	OTOF_ENST00000403946.3_Missense_Mutation_p.S1879P|OTOF_ENST00000338581.6_Missense_Mutation_p.S1112P|OTOF_ENST00000402415.3_Missense_Mutation_p.S1189P|OTOF_ENST00000339598.3_Missense_Mutation_p.S1112P	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1879					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.S1879P(1)|p.S1112P(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAAGATGGACACGAGGGGC	0.642																																					p.S1112P	GBM(102;732 1451 20652 24062 31372)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3334C	2						.						84.0	68.0	73.0					2																	26683797		2203	4300	6503	26537301	SO:0001583	missense	9381	exon27			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5635T>C	2.37:g.26683797A>G	ENSP00000272371:p.Ser1879Pro		26537301	NM_194323	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	a	23.8	4.461147	0.84317	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	4.54	4.54	0.55810	C2 calcium/lipid-binding domain, CaLB (1);	0.114352	0.64402	N	0.000008	D	0.91171	0.7219	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.71674	0.996;0.995;0.998;0.995	D;D;D;D	0.70716	0.914;0.97;0.961;0.97	D	0.93072	0.6483	10	0.72032	D	0.01	-23.6919	13.5678	0.61828	1.0:0.0:0.0:0.0	.	1879;1112;1189;1112	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	P	1112;1112;1189;1879;1879	ENSP00000345137:S1112P;ENSP00000344521:S1112P;ENSP00000383906:S1189P;ENSP00000272371:S1879P;ENSP00000385255:S1879P	ENSP00000272371:S1879P	S	-	1	0	OTOF	26537301	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.336000	0.96533	1.688000	0.51068	0.375000	0.23000	TCC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
KCNK3	3777	broad.mit.edu	37	2	26950926	26950926	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:26950926C>T	ENST00000302909.3	+	2	800	c.675C>T	c.(673-675)ttC>ttT	p.F225F		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	225					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)	p.F225F(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CCTTCAGCTTCGTCTACATCC	0.632																																					p.F225F	GBM(80;1457 1631 27100 45946)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675T	2						.						84.0	66.0	72.0					2																	26950926		2203	4300	6503	26804430	SO:0001819	synonymous_variant	3777	exon2			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.675C>T	2.37:g.26950926C>T			26804430	NM_002246	Q53SU2	Silent	SNP	ENST00000302909.3	37	CCDS1727.1																																																																																				0.632	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246	
TMEM214	54867	broad.mit.edu	37	2	27260521	27260521	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27260521C>A	ENST00000238788.9	+	9	1165	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	TMEM214_ENST00000404032.3_Missense_Mutation_p.S323Y	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	368					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S368Y(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TACTTCCCTTCTTTCCTGTCC	0.572																																					p.S323Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968A	2						.						115.0	116.0	116.0					2																	27260521		1942	4143	6085	27114025	SO:0001583	missense	54867	exon8				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1103C>A	2.37:g.27260521C>A	ENSP00000238788:p.Ser368Tyr		27114025	NM_001083590	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861203|4.861203	0.91433|0.91433	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.50277	.|0.75;0.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69646|0.69646	0.3134|0.3134	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.995	T|T	0.71328|0.71328	-0.4626|-0.4626	5|10	.|0.62326	.|D	.|0.03	-20.9244|-20.9244	17.5913|17.5913	0.87997|0.87997	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|323;368	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	I|Y	127|368;323;108	.|ENSP00000238788:S368Y;ENSP00000384417:S323Y	.|ENSP00000238788:S368Y	L|S	+|+	1|2	0|0	TMEM214|TMEM214	27114025|27114025	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	7.298000|7.298000	0.78815|0.78815	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	CTT|TCT		0.572	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
ATRAID	51374	broad.mit.edu	37	2	27439464	27439464	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27439464C>A	ENST00000606999.1	+	6	619	c.561C>A	c.(559-561)ttC>ttA	p.F187L	ATRAID_ENST00000405489.3_Missense_Mutation_p.F129L|CAD_ENST00000264705.4_5'Flank|CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000380171.3_Missense_Mutation_p.F242L	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	187	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.F242L(1)									CTGATGGTTTCCATGGATACA	0.463																																					p.F242L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C726A	2						.						378.0	362.0	367.0					2																	27439464		2203	4300	6503	27292968	SO:0001583	missense	51374	exon6			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.561C>A	2.37:g.27439464C>A	ENSP00000476080:p.Phe187Leu		27292968	NM_080592	A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37		.	.	.	.	.	.	.	.	.	.	C	19.19	3.779955	0.70222	.	.	ENSG00000138085	ENST00000380171;ENST00000405489	D;T	0.87179	-2.22;0.71	5.67	2.77	0.32553	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.091955	0.85682	D	0.000000	D	0.91300	0.7257	M	0.76328	2.33	0.42692	D	0.993583	D;D	0.71674	0.996;0.998	D;D	0.77557	0.99;0.987	D	0.90114	0.4194	10	0.72032	D	0.01	-21.1804	7.8445	0.29419	0.0:0.7189:0.0:0.2811	.	187;242	Q6UW56;Q6UW56-3	APR3_HUMAN;.	L	242;129	ENSP00000369518:F242L;ENSP00000384033:F129L	ENSP00000369518:F242L	F	+	3	2	C2orf28	27292968	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	0.946000	0.29069	0.690000	0.31570	-0.367000	0.07326	TTC		0.463	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085	
CAD	790	broad.mit.edu	37	2	27465748	27465748	+	Silent	SNP	C	C	T	rs141620726		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27465748C>T	ENST00000403525.1	+	41	6342	c.6198C>T	c.(6196-6198)ttC>ttT	p.F2066F	CAD_ENST00000264705.4_Silent_p.F2129F			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.F2129F(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGGAATTCGAGAGCATTG	0.577																																					p.F2129F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6387T	2						.	C		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		6387	-1.2	1.0	2	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous	CAD	NM_004341.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2129/2226	27465748	1,13005	2203	4300	6503	27319252	SO:0001819	synonymous_variant	790	exon42			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6198C>T	2.37:g.27465748C>T			27319252	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	C	9.172	1.021441	0.19433	2.27E-4	0.0	ENSG00000084774	ENST00000428460	.	.	.	5.28	-1.2	0.09554	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50110	-0.8866	4	.	.	.	-23.4525	9.6319	0.39785	0.0:0.3906:0.0:0.6094	.	.	.	.	L	197	.	.	S	+	2	0	CAD	27319252	0.432000	0.25554	0.996000	0.52242	0.958000	0.62258	-0.378000	0.07446	-0.213000	0.10094	-0.424000	0.05967	TCG		0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
GTF3C2	2976	broad.mit.edu	37	2	27565880	27565880	+	Missense_Mutation	SNP	G	G	T	rs147615647	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27565880G>T	ENST00000359541.2	-	3	811	c.382C>A	c.(382-384)Ctc>Atc	p.L128I	GTF3C2_ENST00000264720.3_Missense_Mutation_p.L128I|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	128					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)		p.L128I(1)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATCTAAGAGACCAGGAACC	0.547																																					p.L128I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382A	2						.						105.0	99.0	101.0					2																	27565880		2203	4300	6503	27419384	SO:0001583	missense	2976	exon3			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.382C>A	2.37:g.27565880G>T	ENSP00000352536:p.Leu128Ile		27419384	NM_001035521	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089363	0.36855	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748	T;T	0.73681	-0.77;-0.77	5.31	4.43	0.53597	.	0.301944	0.27176	N	0.020561	T	0.59128	0.2171	N	0.19112	0.55	0.31093	N	0.710634	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.59968	-0.7354	10	0.41790	T	0.15	-6.6888	11.3264	0.49450	0.0:0.0:0.8194:0.1806	.	128;128;128	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	I	128	ENSP00000352536:L128I;ENSP00000264720:L128I	ENSP00000264720:L128I	L	-	1	0	GTF3C2	27419384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.703000	0.47110	1.466000	0.48025	0.563000	0.77884	CTC		0.547	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
SNX17	9784	broad.mit.edu	37	2	27596794	27596794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27596794C>A	ENST00000233575.2	+	5	610	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.L105M	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	130	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.L130M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAAAGTTCTGGTCAACGT	0.567																																					p.L130M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388A	2						.						129.0	109.0	116.0					2																	27596794		2203	4300	6503	27450298	SO:0001583	missense	9784	exon5			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.388C>A	2.37:g.27596794C>A	ENSP00000233575:p.Leu130Met		27450298	NM_014748	B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515827	0.27123	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.74947	-0.89;-0.89	5.2	3.37	0.38596	Ras-association (1);	0.620984	0.16471	N	0.212977	T	0.53498	0.1800	L	0.27053	0.805	0.80722	D	1	P;P;B;P	0.50066	0.931;0.804;0.064;0.726	B;B;B;B	0.37198	0.243;0.135;0.007;0.188	T	0.52193	-0.8608	10	0.52906	T	0.07	-3.5356	3.4704	0.07565	0.267:0.5037:0.1442:0.0851	.	105;118;110;130	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	M	130;105	ENSP00000233575:L130M;ENSP00000439208:L105M	ENSP00000233575:L130M	L	+	1	2	SNX17	27450298	0.998000	0.40836	0.990000	0.47175	0.643000	0.38383	1.758000	0.38410	0.744000	0.32741	0.561000	0.74099	CTG		0.567	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748	
C2orf16	84226	broad.mit.edu	37	2	27799768	27799768	+	Missense_Mutation	SNP	G	G	A	rs368950997		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27799768G>A	ENST00000408964.2	+	1	380	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	110						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R110K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAACTCCAAGAACAAATTAT	0.408																																					p.R110K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	2						.						58.0	54.0	55.0					2																	27799768		1852	4104	5956	27653272	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.329G>A	2.37:g.27799768G>A	ENSP00000386190:p.Arg110Lys		27653272	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.235977	0.01505	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	3.74	-0.29	0.12847	.	.	.	.	.	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48559	-0.9025	9	0.08837	T	0.75	.	8.5773	0.33605	0.3964:0.0:0.6036:0.0	.	110	Q68DN1	CB016_HUMAN	K	110	ENSP00000386190:R110K	ENSP00000386190:R110K	R	+	2	0	C2orf16	27653272	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.264000	0.08658	-0.376000	0.07943	-1.598000	0.00824	AGA		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27800094	27800094	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27800094A>C	ENST00000408964.2	+	1	706	c.655A>C	c.(655-657)Aaa>Caa	p.K219Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	219						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.K219Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAAGGCTCAAAATTCTTAGG	0.443																																					p.K219Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A655C	2						.						51.0	48.0	49.0					2																	27800094		1872	4102	5974	27653598	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.655A>C	2.37:g.27800094A>C	ENSP00000386190:p.Lys219Gln		27653598	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393526	0.62066	.	.	ENSG00000221843	ENST00000408964	T	0.09163	3.01	4.02	1.35	0.21983	.	.	.	.	.	T	0.07279	0.0184	N	0.24115	0.695	0.19575	N	0.999961	B	0.33044	0.395	B	0.35655	0.207	T	0.36114	-0.9761	9	0.45353	T	0.12	.	4.1921	0.10426	0.6808:0.206:0.1132:0.0	.	219	Q68DN1	CB016_HUMAN	Q	219	ENSP00000386190:K219Q	ENSP00000386190:K219Q	K	+	1	0	C2orf16	27653598	0.001000	0.12720	0.081000	0.20488	0.288000	0.27193	0.076000	0.14712	0.151000	0.19162	0.460000	0.39030	AAA		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27800558	27800558	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27800558G>T	ENST00000408964.2	+	1	1170	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	373						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E373D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGCAGGTAGAGAAAACTTTGC	0.463																																					p.E373D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1119T	2						.						63.0	61.0	62.0					2																	27800558		1906	4122	6028	27654062	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1119G>T	2.37:g.27800558G>T	ENSP00000386190:p.Glu373Asp		27654062	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.889	0.953574	0.18431	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.36	1.41	0.22369	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	P	0.46512	0.879	B	0.37144	0.242	T	0.36841	-0.9731	9	0.17369	T	0.5	.	3.2933	0.06957	0.1426:0.0:0.5971:0.2602	.	373	Q68DN1	CB016_HUMAN	D	373	ENSP00000386190:E373D	ENSP00000386190:E373D	E	+	3	2	C2orf16	27654062	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.077000	0.14738	0.670000	0.31165	0.563000	0.77884	GAG		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27801327	27801327	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27801327A>C	ENST00000408964.2	+	1	1939	c.1888A>C	c.(1888-1890)Aat>Cat	p.N630H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	630						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.N630H(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGAAGCAATAAATTGTGTGGA	0.408																																					p.N630H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1888C	2						.						81.0	77.0	78.0					2																	27801327		1871	4109	5980	27654831	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1888A>C	2.37:g.27801327A>C	ENSP00000386190:p.Asn630His		27654831	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	8.139	0.784770	0.16189	.	.	ENSG00000221843	ENST00000408964	T	0.05580	3.42	4.42	0.563	0.17296	.	.	.	.	.	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	P	0.47941	0.562	T	0.39542	-0.9609	9	0.66056	D	0.02	.	6.454	0.21920	0.4378:0.0:0.5622:0.0	.	630	Q68DN1	CB016_HUMAN	H	630	ENSP00000386190:N630H	ENSP00000386190:N630H	N	+	1	0	C2orf16	27654831	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.173000	0.16724	-0.018000	0.14079	-0.366000	0.07423	AAT		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27802467	27802467	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27802467G>A	ENST00000408964.2	+	1	3079	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1010						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.E1010K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TATATCCCAAGAAGTCATTCA	0.438																																					p.E1010K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3028A	2						.						96.0	97.0	97.0					2																	27802467		2066	4223	6289	27655971	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3028G>A	2.37:g.27802467G>A	ENSP00000386190:p.Glu1010Lys		27655971	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.666	0.901800	0.17760	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	4.96	4.06	0.47325	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	0.99999	P	0.50156	0.932	P	0.53450	0.726	T	0.42816	-0.9429	9	0.25106	T	0.35	.	9.482	0.38906	0.099:0.0:0.901:0.0	.	1010	Q68DN1	CB016_HUMAN	K	1010	ENSP00000386190:E1010K	ENSP00000386190:E1010K	E	+	1	0	C2orf16	27655971	0.988000	0.35896	0.933000	0.37362	0.056000	0.15407	1.621000	0.36986	2.583000	0.87209	0.467000	0.42956	GAA		0.438	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27803332	27803332	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27803332G>T	ENST00000408964.2	+	1	3944	c.3893G>T	c.(3892-3894)aGa>aTa	p.R1298I	ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1298						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R1298I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGCGACTTAGAAAACACAGA	0.403																																					p.R1298I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3893T	2						.						81.0	78.0	79.0					2																	27803332		1833	4091	5924	27656836	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3893G>T	2.37:g.27803332G>T	ENSP00000386190:p.Arg1298Ile		27656836	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236112	0.22626	.	.	ENSG00000221843	ENST00000408964	T	0.55413	0.52	5.31	2.49	0.30216	.	.	.	.	.	T	0.54598	0.1868	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.39781	-0.9597	9	0.66056	D	0.02	.	7.4688	0.27336	0.2813:0.0:0.7187:0.0	.	1298	Q68DN1	CB016_HUMAN	I	1298	ENSP00000386190:R1298I	ENSP00000386190:R1298I	R	+	2	0	C2orf16	27656836	0.019000	0.18553	0.008000	0.14137	0.039000	0.13416	0.406000	0.21032	0.605000	0.29947	0.563000	0.77884	AGA		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
C2orf16	84226	broad.mit.edu	37	2	27804682	27804682	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27804682G>T	ENST00000408964.2	+	1	5294	c.5243G>T	c.(5242-5244)aGa>aTa	p.R1748I	ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1748	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R1748I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGAGAGAAGACATCAC	0.552																																					p.R1748I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5243T	2						.						193.0	196.0	195.0					2																	27804682		1918	4142	6060	27658186	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5243G>T	2.37:g.27804682G>T	ENSP00000386190:p.Arg1748Ile		27658186	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999573	0.35320	.	.	ENSG00000221843	ENST00000408964	T	0.05996	3.36	3.63	0.729	0.18266	.	.	.	.	.	T	0.10294	0.0252	L	0.61218	1.895	0.09310	N	1	P	0.38300	0.626	P	0.44696	0.458	T	0.21415	-1.0246	9	0.62326	D	0.03	.	5.3286	0.15920	0.2052:0.1697:0.6251:0.0	.	1748	Q68DN1	CB016_HUMAN	I	1748	ENSP00000386190:R1748I	ENSP00000386190:R1748I	R	+	2	0	C2orf16	27658186	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	0.762000	0.26503	0.126000	0.18424	0.462000	0.41574	AGA		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27844028C>T	ENST00000355467.4	+	14	1487	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF512_ENST00000413371.2_Silent_p.F391F|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Silent_p.F439F|ZNF512_ENST00000556601.1_Silent_p.F337F|ZNF512_ENST00000379717.1_Silent_p.F467F	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	468					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.F468F(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGACTGGTTCGTTGTAAACC	0.418																																					p.F468F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1404T	2						.						52.0	54.0	53.0					2																	27844028		2203	4300	6503	27697532	SO:0001819	synonymous_variant	84450	exon14			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1404C>T	2.37:g.27844028C>T			27697532	NM_032434	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	CCDS1758.1																																																																																				0.418	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	
SLC4A1AP	22950	broad.mit.edu	37	2	27887296	27887296	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:27887296G>A	ENST00000326019.6	+	1	959	c.677G>A	c.(676-678)aGc>aAc	p.S226N	SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	226	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S226N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAATGCGACAGCAACGGGCCG	0.612																																					p.S226N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	2						.						69.0	71.0	70.0					2																	27887296		2203	4300	6503	27740800	SO:0001583	missense	22950	exon1				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.677G>A	2.37:g.27887296G>A	ENSP00000323837:p.Ser226Asn		27740800	NM_018158	A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387185	0.25031	.	.	ENSG00000163798	ENST00000326019	T	0.32272	1.46	4.27	1.24	0.21308	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.482646	0.21791	N	0.069062	T	0.16642	0.0400	N	0.16656	0.425	0.09310	N	1	B	0.26602	0.154	B	0.31101	0.124	T	0.23154	-1.0196	10	0.24483	T	0.36	-0.7038	7.3489	0.26678	0.1774:0.1519:0.6707:0.0	.	226	Q9BWU0	NADAP_HUMAN	N	226	ENSP00000323837:S226N	ENSP00000323837:S226N	S	+	2	0	SLC4A1AP	27740800	0.999000	0.42202	0.431000	0.26735	0.455000	0.32408	1.959000	0.40412	0.426000	0.26116	0.555000	0.69702	AGC		0.612	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158	
BRE	9577	broad.mit.edu	37	2	28561364	28561364	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:28561364C>T	ENST00000342045.2	+	13	1277	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	BRE_ENST00000361704.2_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.A379V|BRE_ENST00000344773.2_3'UTR|BRE_ENST00000379632.2_3'UTR	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.A379V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCAGCATTTGCCAATGGAAAG	0.502																																					p.A379V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1136T	2						.						140.0	145.0	144.0					2																	28561364		2203	4300	6503	28414868	SO:0001583	missense	9577	exon13			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1136C>T	2.37:g.28561364C>T	ENSP00000339371:p.Ala379Val		28414868	NM_199194		3'UTR	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648211	0.67358	.	.	ENSG00000158019	ENST00000379624;ENST00000342045;ENST00000379623	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.42449	0.1203	L	0.36672	1.1	0.80722	D	1	P	0.47409	0.895	B	0.38056	0.264	T	0.43097	-0.9412	8	0.42905	T	0.14	.	15.8257	0.78706	0.0:1.0:0.0:0.0	.	379	Q9NXR7	BRE_HUMAN	V	379;379;281	.	ENSP00000339371:A379V	A	+	2	0	BRE	28414868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.561000	0.67339	2.543000	0.85770	0.561000	0.74099	GCC		0.502	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		
FOSL2	2355	broad.mit.edu	37	2	28627119	28627119	+	Missense_Mutation	SNP	G	G	T	rs199613963		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:28627119G>T	ENST00000264716.4	+	2	1111	c.248G>T	c.(247-249)aGc>aTc	p.S83I	FOSL2_ENST00000379619.1_Missense_Mutation_p.S58I|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Missense_Mutation_p.S44I	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	83					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S83I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CACCCCTACAGCCCCCTGCCG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16772	0.001		0.0	False		,,,				2504	0.0				p.S83I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248T	2						.						120.0	112.0	115.0					2																	28627119		2203	4300	6503	28480623	SO:0001583	missense	2355	exon2				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.248G>T	2.37:g.28627119G>T	ENSP00000264716:p.Ser83Ile		28480623	NM_005253	B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	CCDS1766.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	29.7	5.028052	0.93518	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.32	5.32	0.75619	.	0.040810	0.85682	D	0.000000	T	0.56499	0.1989	M	0.61703	1.905	0.47547	D	0.99945	D	0.61697	0.99	P	0.54664	0.758	T	0.55134	-0.8188	10	0.40728	T	0.16	-18.3961	18.9807	0.92754	0.0:0.0:1.0:0.0	.	83	P15408	FOSL2_HUMAN	I	58;83;44;44	ENSP00000368939:S58I;ENSP00000264716:S83I;ENSP00000396497:S44I;ENSP00000439303:S44I	ENSP00000264716:S83I	S	+	2	0	FOSL2	28480623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.212000	0.65225	2.485000	0.83878	0.563000	0.77884	AGC		0.637	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253	
SPDYA	245711	broad.mit.edu	37	2	29038968	29038968	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29038968A>C	ENST00000334056.5	+	3	277	c.88A>C	c.(88-90)Aag>Cag	p.K30Q	SPDYA_ENST00000379579.4_Missense_Mutation_p.K30Q|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A									p.K30Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAGCCTAAAAAGCCCATTAC	0.378																																					p.K30Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A88C	2						.						124.0	119.0	121.0					2																	29038968		2203	4300	6503	28892472	SO:0001583	missense	245711	exon3			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.88A>C	2.37:g.29038968A>C	ENSP00000335628:p.Lys30Gln		28892472	NM_182756		Missense_Mutation	SNP	ENST00000334056.5	37	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103647	0.56291	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	5.04	5.04	0.67666	.	0.102208	0.38778	U	0.001572	T	0.54806	0.1881	L	0.34521	1.04	0.38522	D	0.948744	D;D	0.64830	0.994;0.993	P;P	0.57057	0.723;0.812	T	0.59941	-0.7359	9	0.51188	T	0.08	-35.5016	11.7213	0.51683	0.8525:0.1475:0.0:0.0	.	30;30	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	Q	30	.	ENSP00000335628:K30Q	K	+	1	0	SPDYA	28892472	1.000000	0.71417	0.988000	0.46212	0.434000	0.31775	3.275000	0.51639	2.023000	0.59567	0.533000	0.62120	AAG		0.378	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756	
FAM179A	165186	broad.mit.edu	37	2	29225513	29225513	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29225513G>T	ENST00000379558.4	+	5	890	c.539G>T	c.(538-540)aGc>aTc	p.S180I	FAM179A_ENST00000403861.2_Missense_Mutation_p.S180I	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	180								p.S180I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCATCCAGAGCATCCCTACC	0.662																																					p.S180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539T	2						.						30.0	37.0	34.0					2																	29225513		1995	4161	6156	29079017	SO:0001583	missense	165186	exon5			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.539G>T	2.37:g.29225513G>T	ENSP00000368876:p.Ser180Ile		29079017	NM_199280	Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315389	0.60524	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.19250	2.49;2.16	5.03	5.03	0.67393	.	.	.	.	.	T	0.34774	0.0909	L	0.32530	0.975	0.30304	N	0.789202	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	T	0.12319	-1.0552	9	0.46703	T	0.11	.	13.87	0.63612	0.0:0.0:1.0:0.0	.	180;180	F8W8E4;Q6ZUX3	.;F179A_HUMAN	I	180	ENSP00000368876:S180I;ENSP00000384699:S180I	ENSP00000368876:S180I	S	+	2	0	FAM179A	29079017	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.649000	0.54417	2.319000	0.78375	0.555000	0.69702	AGC		0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
C2orf71	388939	broad.mit.edu	37	2	29293989	29293989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29293989G>A	ENST00000331664.5	-	1	3138	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1047	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R1047*(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						GGGGAAGTTCGCCGCTTTGTG	0.672																																					p.R1047X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3139T	2						.						38.0	46.0	43.0					2																	29293989		1956	4106	6062	29147493	SO:0001587	stop_gained	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.3139C>T	2.37:g.29293989G>A	ENSP00000332809:p.Arg1047*		29147493	NM_001029883		Nonsense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	37	6.623926	0.97714	.	.	ENSG00000179270	ENST00000331664	.	.	.	4.84	0.0147	0.14101	.	3.446140	0.00481	N	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	8.0497	6.7037	0.23238	0.0767:0.2515:0.5608:0.1111	.	.	.	.	X	1047	.	ENSP00000332809:R1047X	R	-	1	2	C2orf71	29147493	0.238000	0.23825	0.000000	0.03702	0.001000	0.01503	0.757000	0.26433	0.046000	0.15833	0.313000	0.20887	CGA		0.672	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
C2orf71	388939	broad.mit.edu	37	2	29296526	29296526	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29296526A>C	ENST00000331664.5	-	1	601	c.602T>G	c.(601-603)aTt>aGt	p.I201S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	201			I -> F (in RP54; induces proteasomal degradation). {ECO:0000269|PubMed:20398886}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.I201S(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						GATGCACAGAATTGCTTCATA	0.562																																					p.I201S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T602G	2						.						86.0	89.0	88.0					2																	29296526		2041	4195	6236	29150030	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.602T>G	2.37:g.29296526A>C	ENSP00000332809:p.Ile201Ser		29150030	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129393	0.56721	.	.	ENSG00000179270	ENST00000331664	T	0.31769	1.48	5.52	5.52	0.82312	.	0.431994	0.23477	N	0.047754	T	0.50820	0.1638	L	0.58101	1.795	0.18873	N	0.999987	D	0.67145	0.996	D	0.64410	0.925	T	0.48222	-0.9054	10	0.87932	D	0	-2.1054	15.6464	0.77055	1.0:0.0:0.0:0.0	.	201	A6NGG8	CB071_HUMAN	S	201	ENSP00000332809:I201S	ENSP00000332809:I201S	I	-	2	0	C2orf71	29150030	0.972000	0.33761	0.003000	0.11579	0.924000	0.55760	9.095000	0.94175	2.102000	0.63906	0.459000	0.35465	ATT		0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
C2orf71	388939	broad.mit.edu	37	2	29296871	29296871	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29296871C>T	ENST00000331664.5	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	86					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R86K(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						CATATCTTTCCTTTTGCCTGA	0.512																																					p.R86K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	2						.						212.0	196.0	201.0					2																	29296871		1930	4145	6075	29150375	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.257G>A	2.37:g.29296871C>T	ENSP00000332809:p.Arg86Lys		29150375	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	0.558	-0.846381	0.02671	.	.	ENSG00000179270	ENST00000331664	T	0.18016	2.24	4.51	1.69	0.24217	.	1.369090	0.04594	N	0.397232	T	0.07188	0.0182	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.30679	-0.9970	10	0.02654	T	1	-0.3305	6.0593	0.19828	0.0:0.5739:0.1317:0.2943	.	86	A6NGG8	CB071_HUMAN	K	86	ENSP00000332809:R86K	ENSP00000332809:R86K	R	-	2	0	C2orf71	29150375	0.000000	0.05858	0.000000	0.03702	0.838000	0.47535	0.103000	0.15292	0.046000	0.15833	0.561000	0.74099	AGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
ALK	238	broad.mit.edu	37	2	29416201	29416201	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29416201G>A	ENST00000389048.3	-	29	5658	c.4752C>T	c.(4750-4752)taC>taT	p.Y1584Y	ALK_ENST00000431873.1_Silent_p.Y414Y	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1584					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y1584Y(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCTGGTAGCCGTAATTGACAT	0.537			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.Y1584Y		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4752T	2						.						77.0	75.0	76.0					2																	29416201		2203	4300	6503	29269705	SO:0001819	synonymous_variant	238	exon29	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4752C>T	2.37:g.29416201G>A			29269705	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.537	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	broad.mit.edu	37	2	29543728	29543728	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29543728A>C	ENST00000389048.3	-	7	2341	c.1435T>G	c.(1435-1437)Tac>Gac	p.Y479D	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'Flank	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	479	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y479D(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AAGTTGCAGTAAAAACCCACA	0.512			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.Y479D		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1435G	2						.						174.0	160.0	165.0					2																	29543728		2203	4300	6503	29397232	SO:0001583	missense	238	exon7	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1435T>G	2.37:g.29543728A>C	ENSP00000373700:p.Tyr479Asp		29397232	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559767	0.45590	.	.	ENSG00000171094	ENST00000389048	T	0.01838	4.61	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	0.000000	0.43747	D	0.000530	T	0.10380	0.0254	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.01643	-1.1305	9	.	.	.	.	14.1373	0.65295	1.0:0.0:0.0:0.0	.	479	Q9UM73	ALK_HUMAN	D	479	ENSP00000373700:Y479D	.	Y	-	1	0	ALK	29397232	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	5.371000	0.66150	2.333000	0.79357	0.533000	0.62120	TAC		0.512	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	broad.mit.edu	37	2	29606605	29606605	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29606605G>A	ENST00000389048.3	-	5	2181	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	425	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C425C(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TACCTTCACTGCAGTTCTTCA	0.507			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.C425C		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	2						.						107.0	91.0	97.0					2																	29606605		2203	4300	6503	29460109	SO:0001819	synonymous_variant	238	exon5	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1275C>T	2.37:g.29606605G>A			29460109	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.507	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	broad.mit.edu	37	2	29606679	29606679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:29606679G>A	ENST00000389048.3	-	5	2107	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R401*(3)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGGGCCACTCGAAATGGGTTG	0.483			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.R401X		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	ALK,ovary,NS,Substitution - Nonsense,0	.	3	Substitution - Nonsense(3)	large_intestine(2)|ovary(1)	c.C1201T	2						.						120.0	113.0	115.0					2																	29606679		2203	4300	6503	29460183	SO:0001587	stop_gained	238	exon5	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1201C>T	2.37:g.29606679G>A	ENSP00000373700:p.Arg401*		29460183	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	46	12.444284	0.99668	.	.	ENSG00000171094	ENST00000389048	.	.	.	6.02	6.02	0.97574	.	0.000000	0.29980	N	0.010702	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6932	0.88275	0.0:0.0:1.0:0.0	.	.	.	.	X	401	.	.	R	-	1	2	ALK	29460183	1.000000	0.71417	0.998000	0.56505	0.459000	0.32528	4.361000	0.59461	2.857000	0.98124	0.650000	0.86243	CGA		0.483	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
LCLAT1	253558	broad.mit.edu	37	2	30863380	30863380	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:30863380C>A	ENST00000309052.4	+	7	1349	c.1140C>A	c.(1138-1140)atC>atA	p.I380I	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Silent_p.I342I|LCLAT1_ENST00000379509.3_Silent_p.I342I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	380					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I380I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						CCATTGTAATCTTTGTGCTGC	0.368																																					p.I380I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1140A	2						.						139.0	136.0	137.0					2																	30863380		2203	4300	6503	30716884	SO:0001819	synonymous_variant	253558	exon7			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1140C>A	2.37:g.30863380C>A			30716884	NM_182551	A6H8Z7|Q8N1Q7	Silent	SNP	ENST00000309052.4	37	CCDS1772.1																																																																																				0.368	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	
CAPN13	92291	broad.mit.edu	37	2	30955362	30955362	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:30955362G>A	ENST00000295055.8	-	20	2045	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	CAPN13_ENST00000534090.2_Silent_p.V623V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	623					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.V623V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGACCCTGCCGACGCTGTCGC	0.597																																					p.V623V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1869T	2						.						28.0	32.0	31.0					2																	30955362		2103	4220	6323	30808866	SO:0001819	synonymous_variant	92291	exon20				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1869C>T	2.37:g.30955362G>A			30808866	NM_144575	Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	CCDS46252.1																																																																																				0.597	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
EHD3	30845	broad.mit.edu	37	2	31483759	31483759	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:31483759G>A	ENST00000322054.5	+	4	1171	c.886G>A	c.(886-888)Gac>Aac	p.D296N	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	296					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.D296N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAGCTCAACGACCTCATCAA	0.617																																					p.D296N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886A	2						.						54.0	58.0	57.0					2																	31483759		2203	4300	6503	31337263	SO:0001583	missense	30845	exon4			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.886G>A	2.37:g.31483759G>A	ENSP00000327116:p.Asp296Asn		31337263	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345420	0.82022	.	.	ENSG00000013016	ENST00000322054	D	0.96011	-3.88	4.77	4.77	0.60923	.	0.092366	0.64402	D	0.000001	D	0.98065	0.9362	M	0.92649	3.33	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.98808	1.0742	10	0.59425	D	0.04	-37.3948	17.9928	0.89174	0.0:0.0:1.0:0.0	.	296	Q9NZN3	EHD3_HUMAN	N	296	ENSP00000327116:D296N	ENSP00000327116:D296N	D	+	1	0	EHD3	31337263	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.657000	0.98554	2.478000	0.83669	0.561000	0.74099	GAC		0.617	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
AL133247.2	0	broad.mit.edu	37	2	31754441	31754441	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:31754441G>T	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							GCAAGTGCTGGGAGGGACCAA	0.473																																					p.S211S												.	.	0			c.C633A	2						.						74.0	73.0	73.0					2																	31754441		1927	4132	6059	31607945			6716	exon4																															2.37:g.31754441G>T			31607945	NM_000348		Missense_Mutation	SNP	ENST00000435713.1	37																																																																																					0.473	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1		
MEMO1	51072	broad.mit.edu	37	2	32093524	32093524	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32093524C>T	ENST00000295065.5	-	9	1109	c.800G>A	c.(799-801)aGt>aAt	p.S267N	MEMO1_ENST00000426310.2_Missense_Mutation_p.S244N|MEMO1_ENST00000404530.1_Missense_Mutation_p.S267N|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.S270N	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	267					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S267N(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					AAACGAAAAACTCATATTCAT	0.418																																					p.S267N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800A	2						.						25.0	24.0	24.0					2																	32093524		2203	4300	6503	31947028	SO:0001583	missense	51072	exon9			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.800G>A	2.37:g.32093524C>T	ENSP00000295065:p.Ser267Asn		31947028	NM_015955	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	8.784	0.928902	0.18131	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.038439	0.85682	D	0.000000	T	0.42426	0.1202	N	0.13235	0.315	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.22871	-1.0204	9	0.20046	T	0.44	-0.856	18.7757	0.91911	0.0:1.0:0.0:0.0	.	244;267	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	N	267;270;267;244	.	ENSP00000295065:S267N	S	-	2	0	MEMO1	31947028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.642000	0.61383	2.608000	0.88229	0.650000	0.86243	AGT		0.418	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	
MEMO1	51072	broad.mit.edu	37	2	32094968	32094968	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32094968C>A	ENST00000295065.5	-	8	1020	c.711G>T	c.(709-711)aaG>aaT	p.K237N	MEMO1_ENST00000426310.2_Missense_Mutation_p.K214N|MEMO1_ENST00000404530.1_Missense_Mutation_p.K237N|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.K240N	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	237					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.K237N(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TATGGTATTTCTTCAAGTAAT	0.294																																					p.K237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G711T	2						.						74.0	75.0	75.0					2																	32094968		2202	4290	6492	31948472	SO:0001583	missense	51072	exon8			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.711G>T	2.37:g.32094968C>A	ENSP00000295065:p.Lys237Asn		31948472	NM_015955	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448660	0.84101	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	M	0.64997	1.995	0.80722	D	1	B;D	0.64830	0.089;0.994	B;P	0.58970	0.198;0.849	T	0.77024	-0.2741	9	0.59425	D	0.04	-14.2427	17.8705	0.88810	0.0:1.0:0.0:0.0	.	214;237	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	N	237;240;237;214	.	ENSP00000295065:K237N	K	-	3	2	MEMO1	31948472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.936000	0.70153	2.389000	0.81357	0.585000	0.79938	AAG		0.294	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	
SPAST	6683	broad.mit.edu	37	2	32379455	32379455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32379455C>T	ENST00000315285.3	+	17	1866	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	SPAST_ENST00000345662.1_Nonsense_Mutation_p.R549*	NM_014946.3	NP_055761.2			spastin									p.R581*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGAAATATTCGATTATCTGA	0.353																																					p.R549X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1645T	2	GRCh37	CM051998	SPAST	M		.						79.0	80.0	79.0					2																	32379455		2203	4300	6503	32232959	SO:0001587	stop_gained	6683	exon16			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1741C>T	2.37:g.32379455C>T	ENSP00000320885:p.Arg581*		32232959	NM_199436		Nonsense_Mutation	SNP	ENST00000315285.3	37	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	C	36	5.766269	0.96914	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	.	.	.	5.63	4.76	0.60689	.	0.390481	0.26935	N	0.021750	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-2.6781	7.9564	0.30045	0.2544:0.6666:0.0:0.0791	.	.	.	.	X	549;581	.	ENSP00000320885:R581X	R	+	1	2	SPAST	32232959	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.304000	0.51866	1.513000	0.48852	0.563000	0.77884	CGA		0.353	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436	
SLC30A6	55676	broad.mit.edu	37	2	32445306	32445306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32445306C>T	ENST00000282587.5	+	14	947	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SLC30A6_ENST00000435660.1_Nonsense_Mutation_p.R281*|SLC30A6_ENST00000406369.1_Nonsense_Mutation_p.R230*|SLC30A6_ENST00000379343.2_Nonsense_Mutation_p.R344*|SLC30A6_ENST00000357055.3_Nonsense_Mutation_p.R107*|SLC30A6_ENST00000538303.1_Nonsense_Mutation_p.R275*	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	304					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.R304*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTAAGAATTCGACGAGATGC	0.353																																					p.R344X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1030T	2						.						94.0	81.0	85.0					2																	32445306		2203	4300	6503	32298810	SO:0001587	stop_gained	55676	exon15			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.910C>T	2.37:g.32445306C>T	ENSP00000282587:p.Arg304*		32298810	NM_001193513	A5YM45|B7Z901|Q8N5C9|Q96NC3	Nonsense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824978	0.90955	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3124	14.3706	0.66836	0.1481:0.8519:0.0:0.0	.	.	.	.	X	344;304;281;275;107;230	.	ENSP00000282587:R304X	R	+	1	2	SLC30A6	32298810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.407000	0.66363	2.702000	0.92279	0.591000	0.81541	CGA		0.353	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
NLRC4	58484	broad.mit.edu	37	2	32474873	32474873	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32474873G>A	ENST00000404025.2	-	5	2548	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.A687V|NLRC4_ENST00000402280.1_Missense_Mutation_p.A687V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	687					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A687V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGGCTTGTGGCAGAGCTGAA	0.463																																					p.A687V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2060T	2						.						80.0	79.0	80.0					2																	32474873		2203	4300	6503	32328377	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2060C>T	2.37:g.32474873G>A	ENSP00000385090:p.Ala687Val		32328377	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002108	0.35320	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.52754	0.65;0.65;0.65	3.4	2.51	0.30379	.	0.000000	0.40222	N	0.001142	T	0.44414	0.1292	L	0.29908	0.895	0.31833	N	0.624548	D	0.58268	0.982	P	0.52031	0.688	T	0.58126	-0.7691	9	0.42905	T	0.14	-11.764	12.2969	0.54852	0.0:0.1739:0.8261:0.0	.	687	Q9NPP4	NLRC4_HUMAN	V	687	ENSP00000354159:A687V;ENSP00000385428:A687V;ENSP00000385090:A687V	ENSP00000354159:A687V	A	-	2	0	NLRC4	32328377	0.863000	0.29885	0.451000	0.26982	0.223000	0.24884	3.441000	0.52893	0.996000	0.38943	0.543000	0.68304	GCC		0.463	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Missense_Mutation	SNP	C	C	T	rs144123569		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32475708C>T	ENST00000404025.2	-	5	1713	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E409K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E409K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22313	0.0		0.0	False		,,,				2504	0.0				p.E409K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1225A	2						.						55.0	57.0	57.0					2																	32475708		2203	4300	6503	32329212	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1225G>A	2.37:g.32475708C>T	ENSP00000385090:p.Glu409Lys		32329212	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.006	-2.077324	0.00375	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.10860	2.83;2.83;2.83	2.97	-1.66	0.08265	.	1.102920	0.07138	N	0.846839	T	0.09069	0.0224	L	0.44542	1.39	0.23192	N	0.998144	B	0.09022	0.002	B	0.04013	0.001	T	0.40156	-0.9578	9	0.27082	T	0.32	.	6.1007	0.20045	0.0:0.3531:0.3734:0.2735	.	409	Q9NPP4	NLRC4_HUMAN	K	409	ENSP00000354159:E409K;ENSP00000385428:E409K;ENSP00000385090:E409K	ENSP00000354159:E409K	E	-	1	0	NLRC4	32329212	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.681000	0.05191	-0.970000	0.03569	-2.441000	0.00211	GAA		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
BIRC6	57448	broad.mit.edu	37	2	32640364	32640364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32640364G>T	ENST00000421745.2	+	10	2139	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	669					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.E669*(1)|p.E641*(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)					ACAGATTATTGAAATGGAGCT	0.408																																					p.E669X	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2005T	2						.						87.0	82.0	83.0					2																	32640364		2203	4300	6503	32493868	SO:0001587	stop_gained	57448	exon10			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2005G>T	2.37:g.32640364G>T	ENSP00000393596:p.Glu669*		32493868	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	39	7.839206	0.98519	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	.	.	.	X	669	.	ENSP00000393596:E669X	E	+	1	0	BIRC6	32493868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.506000	0.97992	2.771000	0.95319	0.650000	0.86243	GAA		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32667430	32667430	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32667430G>A	ENST00000421745.2	+	19	4279	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1382					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.R1354Q(1)|p.R1382Q(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)					TCAAAAACACGAAAATTTCTG	0.403																																					p.R1382Q	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4145A	2						.						105.0	100.0	102.0					2																	32667430		2203	4300	6503	32520934	SO:0001583	missense	57448	exon19			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.4145G>A	2.37:g.32667430G>A	ENSP00000393596:p.Arg1382Gln		32520934	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561874	0.45590	.	.	ENSG00000115760	ENST00000421745	T	0.72942	-0.7	5.21	5.21	0.72293	.	0.086182	0.47093	D	0.000253	T	0.48132	0.1483	N	0.04355	-0.22	0.49130	D	0.999752	B	0.21147	0.052	B	0.10450	0.005	T	0.50499	-0.8821	10	0.07175	T	0.84	.	18.7528	0.91821	0.0:0.0:1.0:0.0	.	1382	Q9NR09	BIRC6_HUMAN	Q	1382	ENSP00000393596:R1382Q	ENSP00000393596:R1382Q	R	+	2	0	BIRC6	32520934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.541000	0.82084	2.413000	0.81919	0.650000	0.86243	CGA		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32726811	32726811	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32726811A>C	ENST00000421745.2	+	47	9197	c.9063A>C	c.(9061-9063)gaA>gaC	p.E3021D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3021					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.E2993D(1)|p.E3021D(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)					CTAAACATGAAAACTTTCATG	0.398																																					p.E3021D	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A9063C	2						.						103.0	103.0	103.0					2																	32726811		2203	4300	6503	32580315	SO:0001583	missense	57448	exon47			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.9063A>C	2.37:g.32726811A>C	ENSP00000393596:p.Glu3021Asp		32580315	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485244	0.44147	.	.	ENSG00000115760	ENST00000421745	T	0.75938	-0.98	5.78	-0.0533	0.13818	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	L	0.38531	1.155	0.44454	D	0.997389	D	0.58970	0.984	D	0.68192	0.956	T	0.69899	-0.5020	10	0.32370	T	0.25	.	12.0394	0.53444	0.5517:0.0:0.4483:0.0	.	3021	Q9NR09	BIRC6_HUMAN	D	3021	ENSP00000393596:E3021D	ENSP00000393596:E3021D	E	+	3	2	BIRC6	32580315	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.282000	0.33226	-0.230000	0.09840	0.460000	0.39030	GAA		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32750029	32750029	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32750029G>T	ENST00000421745.2	+	58	11832	c.11698G>T	c.(11698-11700)Gaa>Taa	p.E3900*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3900					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.E3872*(1)|p.E3900*(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)					TGAAGAGAAAGAAAAAGTTAA	0.294																																					p.E3900X	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G11698T	2						.						38.0	41.0	40.0					2																	32750029		2196	4281	6477	32603533	SO:0001587	stop_gained	57448	exon58			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.11698G>T	2.37:g.32750029G>T	ENSP00000393596:p.Glu3900*		32603533	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	54	23.129291	0.99953	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	0.107942	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.3339	0.94307	0.0:0.0:1.0:0.0	.	.	.	.	X	3900	.	ENSP00000393596:E3900X	E	+	1	0	BIRC6	32603533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.375000	0.97178	2.629000	0.89072	0.655000	0.94253	GAA		0.294	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32770897	32770897	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32770897A>G	ENST00000421745.2	+	63	12914	c.12780A>G	c.(12778-12780)cgA>cgG	p.R4260R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4260					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.R4232R(1)|p.R4260R(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)					ATTCCCCACGAGTTCCAAACT	0.388																																					p.R4260R	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A12780G	2						.						137.0	115.0	122.0					2																	32770897		2203	4300	6503	32624401	SO:0001819	synonymous_variant	57448	exon63			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.12780A>G	2.37:g.32770897A>G			32624401	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
TTC27	55622	broad.mit.edu	37	2	32983489	32983489	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:32983489G>A	ENST00000317907.4	+	13	1814	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	528								p.R528H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CGCAGTGCTCGTGCTCAGCGC	0.498																																					p.R478H												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G1433A	2						.						115.0	107.0	110.0					2																	32983489		2203	4300	6503	32836993	SO:0001583	missense	55622	exon13			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1583G>A	2.37:g.32983489G>A	ENSP00000313953:p.Arg528His		32836993	NM_001193509	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682304	0.88542	.	.	ENSG00000018699	ENST00000317907	T	0.65178	-0.14	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.107046	0.56097	D	0.000021	D	0.84097	0.5397	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.85928	0.1450	10	0.56958	D	0.05	-15.4191	20.1772	0.98182	0.0:0.0:1.0:0.0	.	528	Q6P3X3	TTC27_HUMAN	H	528	ENSP00000313953:R528H	ENSP00000313953:R528H	R	+	2	0	TTC27	32836993	1.000000	0.71417	0.062000	0.19696	0.495000	0.33615	9.869000	0.99810	2.778000	0.95560	0.655000	0.94253	CGT		0.498	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
TTC27	55622	broad.mit.edu	37	2	33037571	33037571	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33037571G>A	ENST00000317907.4	+	18	2428	c.2197G>A	c.(2197-2199)Gca>Aca	p.A733T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	733								p.A733T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTTCCTCAGGCATTCCAGTG	0.383																																					p.A683T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2047A	2						.						105.0	101.0	102.0					2																	33037571		2203	4300	6503	32891075	SO:0001630	splice_region_variant	55622	exon18			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2197-1G>A	2.37:g.33037571G>A			32891075	NM_001193509	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440868	0.83993	.	.	ENSG00000018699	ENST00000317907	T	0.75050	-0.9	5.18	5.18	0.71444	.	1.369420	0.05020	N	0.472617	T	0.81083	0.4749	M	0.71036	2.16	0.54753	D	0.999987	P	0.51933	0.949	P	0.47673	0.554	T	0.72616	-0.4239	9	.	.	.	-11.5087	14.5053	0.67748	0.0:0.0:0.8439:0.1561	.	733	Q6P3X3	TTC27_HUMAN	T	733	ENSP00000313953:A733T	.	A	+	1	0	TTC27	32891075	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.729000	0.62008	2.413000	0.81919	0.561000	0.74099	GCA		0.383	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	Missense_Mutation
TTC27	55622	broad.mit.edu	37	2	33042581	33042581	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33042581C>A	ENST00000317907.4	+	19	2597	c.2366C>A	c.(2365-2367)tCt>tAt	p.S789Y		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	789								p.S789Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CAAATGCTTTCTTCTGTTCGA	0.353																																					p.S739Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2216A	2						.						131.0	118.0	122.0					2																	33042581		2203	4300	6503	32896085	SO:0001583	missense	55622	exon19			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2366C>A	2.37:g.33042581C>A	ENSP00000313953:p.Ser789Tyr		32896085	NM_001193509	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100355	0.56183	.	.	ENSG00000018699	ENST00000317907	T	0.60299	0.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64377	-0.6422	10	0.02654	T	1	-16.4288	19.4334	0.94781	0.0:1.0:0.0:0.0	.	789	Q6P3X3	TTC27_HUMAN	Y	789	ENSP00000313953:S789Y	ENSP00000313953:S789Y	S	+	2	0	TTC27	32896085	1.000000	0.71417	0.924000	0.36721	0.053000	0.15095	6.197000	0.72100	2.664000	0.90586	0.591000	0.81541	TCT		0.353	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
LTBP1	4052	broad.mit.edu	37	2	33526597	33526597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33526597G>T	ENST00000404816.2	+	22	3720	c.3367G>T	c.(3367-3369)Gaa>Taa	p.E1123*	LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E744*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E797*|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E1124*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E744*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E798*|LTBP1_ENST00000272273.5_Nonsense_Mutation_p.E63*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E797*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1123	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E1124*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGACATTGATGAATGCCAGCA	0.443																																					p.E797X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2389T	2						.						153.0	146.0	149.0					2																	33526597		2203	4300	6503	33380101	SO:0001587	stop_gained	4052	exon18				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3367G>T	2.37:g.33526597G>T	ENSP00000386043:p.Glu1123*		33380101	NM_000627	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.301568|8.301568	0.98750|0.98750	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669|ENST00000415140	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74215	.|0.3687	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73088	.|-0.4093	.|3	0.87932|.	D|.	0|.	.|.	17.8642|17.8642	0.88791|0.88791	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1123;1124;798;797;744;744;797;63;1|84	.|.	ENSP00000272273:E63X|.	E|M	+|+	1|3	0|0	LTBP1|LTBP1	33380101|33380101	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.093000|0.093000	0.18481|0.18481	7.813000|7.813000	0.86123|0.86123	2.508000|2.508000	0.84585|0.84585	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
RASGRP3	25780	broad.mit.edu	37	2	33745064	33745064	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33745064G>T	ENST00000403687.3	+	5	959	c.219G>T	c.(217-219)aaG>aaT	p.K73N	RASGRP3_ENST00000402538.3_Missense_Mutation_p.K73N|RASGRP3_ENST00000407811.1_Missense_Mutation_p.K73N	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	73	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.K73N(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTCGATTAAAGATCTGCTACT	0.383																																					p.K73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G219T	2						.						99.0	100.0	99.0					2																	33745064		1825	4081	5906	33598568	SO:0001583	missense	25780	exon6			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.219G>T	2.37:g.33745064G>T	ENSP00000384192:p.Lys73Asn		33598568	NM_170672	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984722	0.74474	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000442390;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T;T	0.51325	0.71;1.35;0.71;1.5;1.35;1.35;0.71	6.17	5.3	0.74995	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.101413	0.64402	D	0.000004	T	0.53834	0.1821	M	0.71036	2.16	0.44289	D	0.997152	P;P	0.38677	0.642;0.642	P;P	0.45276	0.475;0.475	T	0.58967	-0.7542	10	0.87932	D	0	-15.7218	10.0361	0.42129	0.1884:0.0:0.8116:0.0	.	73;73	D6W583;Q8IV61	.;GRP3_HUMAN	N	73	ENSP00000385886:K73N;ENSP00000393866:K73N;ENSP00000384192:K73N;ENSP00000405648:K73N;ENSP00000400602:K73N;ENSP00000388139:K73N;ENSP00000383917:K73N	ENSP00000385886:K73N	K	+	3	2	RASGRP3	33598568	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.816000	0.55658	1.632000	0.50472	0.655000	0.94253	AAG		0.383	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
RASGRP3	25780	broad.mit.edu	37	2	33747055	33747055	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33747055G>T	ENST00000403687.3	+	7	1142	c.402G>T	c.(400-402)caG>caT	p.Q134H	RASGRP3_ENST00000402538.3_Missense_Mutation_p.Q134H|RASGRP3_ENST00000407811.1_Missense_Mutation_p.Q134H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	134					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.Q134H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTCACACAGAGGAAAAAAG	0.428																																					p.Q134H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G402T	2						.						129.0	125.0	126.0					2																	33747055		1876	4104	5980	33600559	SO:0001583	missense	25780	exon8			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.402G>T	2.37:g.33747055G>T	ENSP00000384192:p.Gln134His		33600559	NM_170672	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871668	0.72065	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000407811	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.03	5.16	0.70880	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.62723	1.935	0.47341	D	0.999399	D;D	0.71674	0.998;0.998	D;D	0.72075	0.976;0.976	T	0.48614	-0.9020	10	0.46703	T	0.11	-16.5548	11.6098	0.51053	0.1845:0.0:0.8155:0.0	.	134;134	D6W583;Q8IV61	.;GRP3_HUMAN	H	134	ENSP00000385886:Q134H;ENSP00000393866:Q134H;ENSP00000384192:Q134H;ENSP00000383917:Q134H	ENSP00000385886:Q134H	Q	+	3	2	RASGRP3	33600559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.127000	0.57944	1.569000	0.49696	0.557000	0.71058	CAG		0.428	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
RASGRP3	25780	broad.mit.edu	37	2	33774812	33774812	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:33774812G>A	ENST00000403687.3	+	14	2276	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	RASGRP3_ENST00000402538.3_Silent_p.A512A|RASGRP3_ENST00000407811.1_Silent_p.A511A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	512					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.A512A(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACACTGTGCGGGATTTGTAA	0.378																																					p.A512A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1536A	2						.						171.0	149.0	156.0					2																	33774812		1872	4102	5974	33628316	SO:0001819	synonymous_variant	25780	exon15			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1536G>A	2.37:g.33774812G>A			33628316	NM_170672	D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	CCDS46256.1																																																																																				0.378	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
CRIM1	51232	broad.mit.edu	37	2	36740790	36740790	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:36740790T>C	ENST00000280527.2	+	11	2239	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	RP11-78I14.1_ENST00000609765.1_RNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	624	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D624D(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GCTGGCACGATGGGTGCCGGG	0.582																																					p.D624D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1872C	2						.						91.0	87.0	88.0					2																	36740790		2203	4300	6503	36594294	SO:0001819	synonymous_variant	51232	exon11			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1872T>C	2.37:g.36740790T>C			36594294	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
CRIM1	51232	broad.mit.edu	37	2	36749383	36749383	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:36749383C>A	ENST00000280527.2	+	13	2722	c.2355C>A	c.(2353-2355)ttC>ttA	p.F785L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	785	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F785L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TTAGCTGTTTCTCTGAGTCCT	0.458																																					p.F785L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2355A	2						.						198.0	179.0	185.0					2																	36749383		2203	4300	6503	36602887	SO:0001583	missense	51232	exon13			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2355C>A	2.37:g.36749383C>A	ENSP00000280527:p.Phe785Leu		36602887	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436941	0.62955	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	T;T	0.71103	-0.54;-0.54	5.66	4.78	0.61160	von Willebrand factor, type C (4);	0.262756	0.38381	N	0.001711	T	0.60183	0.2249	L	0.35854	1.095	0.33256	D	0.559079	B	0.28439	0.212	B	0.32465	0.146	T	0.62431	-0.6856	10	0.14656	T	0.56	-17.2404	13.1261	0.59356	0.0:0.9237:0.0:0.0763	.	785	Q9NZV1	CRIM1_HUMAN	L	785;147	ENSP00000280527:F785L;ENSP00000403120:F147L	ENSP00000280527:F785L	F	+	3	2	CRIM1	36602887	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.365000	0.52335	2.662000	0.90505	0.557000	0.71058	TTC		0.458	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
CRIM1	51232	broad.mit.edu	37	2	36774281	36774281	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:36774281A>G	ENST00000280527.2	+	16	3268	c.2901A>G	c.(2899-2901)atA>atG	p.I967M	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	967					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I967M(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AACAGTGGATACCACTGCTTT	0.368																																					p.I967M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2901G	2						.						91.0	91.0	91.0					2																	36774281		2203	4300	6503	36627785	SO:0001583	missense	51232	exon16			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2901A>G	2.37:g.36774281A>G	ENSP00000280527:p.Ile967Met		36627785	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649603	0.67358	.	.	ENSG00000150938	ENST00000280527	T	0.05199	3.48	5.8	-3.79	0.04320	.	0.227892	0.43579	D	0.000551	T	0.04048	0.0113	L	0.29908	0.895	0.34294	D	0.683552	P	0.38250	0.624	B	0.41088	0.347	T	0.36986	-0.9725	10	0.48119	T	0.1	-0.9629	2.6984	0.05141	0.3235:0.3129:0.0623:0.3013	.	967	Q9NZV1	CRIM1_HUMAN	M	967	ENSP00000280527:I967M	ENSP00000280527:I967M	I	+	3	3	CRIM1	36627785	0.936000	0.31750	0.920000	0.36463	0.999000	0.98932	-0.020000	0.12525	-0.461000	0.06993	0.533000	0.62120	ATA		0.368	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
FEZ2	9637	broad.mit.edu	37	2	36805790	36805790	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:36805790T>G	ENST00000405912.3	-	5	852	c.853A>C	c.(853-855)Aat>Cat	p.N285H	FEZ2_ENST00000379245.4_Missense_Mutation_p.N285H|FEZ2_ENST00000305852.7_Missense_Mutation_p.N114H	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	285					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)			p.N285H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				GAGCTGCCATTTTTTAGTTTC	0.393																																					p.N285H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A853C	2						.						115.0	114.0	114.0					2																	36805790		1863	4104	5967	36659294	SO:0001583	missense	9637	exon5			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.853A>C	2.37:g.36805790T>G	ENSP00000385112:p.Asn285His		36659294	NM_005102	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.486633|3.486633	0.63962|0.63962	.|.	.|.	ENSG00000171055|ENSG00000171055	ENST00000441005|ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996	T|T;T;T;T	0.34472|0.30981	1.36|1.51;1.51;1.51;1.51	6.04|6.04	4.9|4.9	0.64082|0.64082	.|.	.|0.169341	.|0.64402	.|D	.|0.000005	T|T	0.40595|0.40595	0.1123|0.1123	L|L	0.43152|0.43152	1.355|1.355	0.32628|0.32628	N|N	0.522374|0.522374	.|P;P;P;P	.|0.50617	.|0.937;0.564;0.883;0.896	.|P;P;P;P	.|0.56398	.|0.628;0.797;0.632;0.776	T|T	0.54443|0.54443	-0.8293|-0.8293	7|10	0.72032|0.59425	D|D	0.01|0.04	-21.4915|-21.4915	11.3652|11.3652	0.49668|0.49668	0.0:0.0701:0.0:0.9299|0.0:0.0701:0.0:0.9299	.|.	.|285;285;285;114	.|G3V0F5;Q9UHY8;Q9UHY8-2;Q7Z674	.|.;FEZ2_HUMAN;.;.	T|H	86|285;114;285;184	ENSP00000415325:K86T|ENSP00000368547:N285H;ENSP00000305843:N114H;ENSP00000385112:N285H;ENSP00000350685:N184H	ENSP00000415325:K86T|ENSP00000305843:N114H	K|N	-|-	2|1	0|0	FEZ2|FEZ2	36659294|36659294	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.962000|0.962000	0.63368|0.63368	4.849000|4.849000	0.62882|0.62882	1.118000|1.118000	0.41863|0.41863	0.460000|0.460000	0.39030|0.39030	AAA|AAT		0.393	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1		
VIT	5212	broad.mit.edu	37	2	36970386	36970386	+	Missense_Mutation	SNP	G	G	A	rs202044807		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:36970386G>A	ENST00000389975.3	+	4	564	c.262G>A	c.(262-264)Gct>Act	p.A88T	VIT_ENST00000497382.1_De_novo_Start_OutOfFrame|VIT_ENST00000401530.1_Missense_Mutation_p.A88T|VIT_ENST00000404084.1_Missense_Mutation_p.A66T|VIT_ENST00000379242.3_Missense_Mutation_p.A88T|VIT_ENST00000379241.3_Missense_Mutation_p.A88T|VIT_ENST00000457137.2_Missense_Mutation_p.A88T	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	88	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.A88T(2)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTGTGTGGCGCTGCCGTACA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18355	0.0		0.0	False		,,,				2504	0.001				p.A88T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G262A	2						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	104.0	90.0	94.0		262,262,262,262,262	4.8	0.1	2		94	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	58,58,58,58,58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	88/679,88/658,88/657,88/204,88/694	36970386	3,13003	2203	4300	6503	36823890	SO:0001583	missense	5212	exon4			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.262G>A	2.37:g.36970386G>A	ENSP00000374625:p.Ala88Thr		36823890	NM_001177972	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189433	0.57909	0.0	3.49E-4	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	4.78	4.78	0.61160	LCCL (5);	0.110901	0.64402	D	0.000009	D	0.97548	0.9197	M	0.80508	2.5	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;0.998;0.996;0.998;0.998;1.0	D;D;P;D;P;D	0.74674	0.979;0.943;0.81;0.943;0.906;0.984	D	0.98344	1.0540	10	0.87932	D	0	-15.7685	16.3882	0.83523	0.0:0.0:1.0:0.0	.	88;88;88;88;88;88	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	T	88;88;88;88;66;88;88	ENSP00000368544:A88T;ENSP00000374625:A88T;ENSP00000393561:A88T;ENSP00000384154:A66T;ENSP00000368543:A88T;ENSP00000385658:A88T	ENSP00000368543:A88T	A	+	1	0	VIT	36823890	1.000000	0.71417	0.108000	0.21378	0.012000	0.07955	7.260000	0.78391	2.363000	0.80096	0.655000	0.94253	GCT		0.493	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
VIT	5212	broad.mit.edu	37	2	37041341	37041341	+	Missense_Mutation	SNP	C	C	T	rs141772569		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37041341C>T	ENST00000389975.3	+	15	2176	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	VIT_ENST00000497382.1_Missense_Mutation_p.A294V|VIT_ENST00000401530.1_Missense_Mutation_p.A604V|VIT_ENST00000404084.1_Missense_Mutation_p.A577V|VIT_ENST00000379242.3_Missense_Mutation_p.A640V|VIT_ENST00000379241.3_Missense_Mutation_p.A603V	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	625	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.A640V(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCACCTATGCGATAGGCGTT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19642	0.0		0.0	False		,,,				2504	0.0				p.A625V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1874T	2						.	C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	4,4402	9.9+/-24.2	0,4,2199	103.0	88.0	93.0		1874,1811,1808,1919	5.5	0.9	2	dbSNP_134	93	0,8600		0,0,4300	yes	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	64,64,64,64	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	625/679,604/658,603/657,640/694	37041341	4,13002	2203	4300	6503	36894845	SO:0001583	missense	5212	exon15			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1874C>T	2.37:g.37041341C>T	ENSP00000374625:p.Ala625Val		36894845	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	33	5.247811	0.95305	9.08E-4	0.0	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.346379	0.34200	N	0.004177	D	0.90184	0.6932	M	0.71871	2.18	0.58432	D	0.999996	D;D;D;D	0.60160	0.987;0.984;0.987;0.984	P;P;P;P	0.57679	0.825;0.732;0.825;0.732	D	0.87853	0.2659	10	0.27082	T	0.32	-16.8856	19.4602	0.94914	0.0:1.0:0.0:0.0	.	604;603;625;640	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	V	640;625;294;577;603;604	ENSP00000368544:A640V;ENSP00000374625:A625V;ENSP00000417874:A294V;ENSP00000384154:A577V;ENSP00000368543:A603V;ENSP00000385658:A604V	ENSP00000368543:A603V	A	+	2	0	VIT	36894845	1.000000	0.71417	0.931000	0.37212	0.730000	0.41778	7.786000	0.85741	2.590000	0.87494	0.655000	0.94253	GCG		0.517	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
VIT	5212	broad.mit.edu	37	2	37041403	37041403	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37041403G>T	ENST00000389975.3	+	15	2238	c.1936G>T	c.(1936-1938)Gac>Tac	p.D646Y	VIT_ENST00000497382.1_Missense_Mutation_p.D315Y|VIT_ENST00000401530.1_Missense_Mutation_p.D625Y|VIT_ENST00000404084.1_Missense_Mutation_p.D598Y|VIT_ENST00000379242.3_Missense_Mutation_p.D661Y|VIT_ENST00000379241.3_Missense_Mutation_p.D624Y	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	646	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.D661Y(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCCCGCCAGAGACCACTCCTT	0.522																																					p.D646Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936T	2						.						131.0	109.0	116.0					2																	37041403		2203	4300	6503	36894907	SO:0001583	missense	5212	exon15			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1936G>T	2.37:g.37041403G>T	ENSP00000374625:p.Asp646Tyr		36894907	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453727	0.84209	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.52	5.52	0.82312	von Willebrand factor, type A (3);	0.147481	0.64402	D	0.000011	D	0.91085	0.7194	M	0.82716	2.605	0.50813	D	0.999895	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.74348	0.983;0.982;0.983;0.983	D	0.92064	0.5659	10	0.87932	D	0	-28.1577	14.3161	0.66452	0.0:0.0:0.8517:0.1483	.	625;624;646;661	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Y	661;646;315;598;624;625	ENSP00000368544:D661Y;ENSP00000374625:D646Y;ENSP00000417874:D315Y;ENSP00000384154:D598Y;ENSP00000368543:D624Y;ENSP00000385658:D625Y	ENSP00000368543:D624Y	D	+	1	0	VIT	36894907	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.764000	0.62264	2.590000	0.87494	0.655000	0.94253	GAC		0.522	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
HEATR5B	54497	broad.mit.edu	37	2	37208731	37208731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37208731G>A	ENST00000233099.5	-	36	6213	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R1951*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	2040						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R2040*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGGCTTGCTCGAACGGCAGTT	0.453																																					p.R2040X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6118T	2						.						70.0	74.0	72.0					2																	37208731		2203	4300	6503	37062235	SO:0001587	stop_gained	54497	exon36			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.6118C>T	2.37:g.37208731G>A	ENSP00000233099:p.Arg2040*		37062235	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	46	12.271283	0.99652	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	5.61	2.61	0.31194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46167	D	0.998903	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3798	14.9817	0.71316	0.0:0.0:0.5486:0.4514	.	.	.	.	X	2040;1951	.	ENSP00000233099:R2040X	R	-	1	2	HEATR5B	37062235	0.984000	0.35163	1.000000	0.80357	0.899000	0.52679	1.497000	0.35649	0.814000	0.34374	0.655000	0.94253	CGA		0.453	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
HEATR5B	54497	broad.mit.edu	37	2	37268422	37268422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37268422G>A	ENST00000233099.5	-	19	2805	c.2710C>T	c.(2710-2712)Cga>Tga	p.R904*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R904*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	904						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R904*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAACATCTCGAGCCGATTTC	0.388																																					p.R904X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2710T	2						.						123.0	110.0	115.0					2																	37268422		2203	4300	6503	37121926	SO:0001587	stop_gained	54497	exon19			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2710C>T	2.37:g.37268422G>A	ENSP00000233099:p.Arg904*		37121926	NM_019024	B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	41	8.696621	0.98918	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7461	15.0449	0.71819	0.0:0.0:0.8573:0.1427	.	.	.	.	X	904	.	ENSP00000233099:R904X	R	-	1	2	HEATR5B	37121926	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.658000	0.74407	2.569000	0.86673	0.655000	0.94253	CGA		0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
SULT6B1	391365	broad.mit.edu	37	2	37406711	37406712	+	Nonsense_Mutation	DNP	CG	CG	TA	rs11569744|rs147099571	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37406711_37406712CG>TA	ENST00000535679.1	-	4	417_418	c.418_419CG>TA	c.(418-420)CGa>TAa	p.R140*	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.R102*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.R102*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	140						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.R102>?(1)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTTAGGGTTTCGAAATATCACC	0.361																																					.												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|lung(1)	c.304_305TA	2						.																																			37260216	SO:0001587	stop_gained	391365	exon4			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.418_419delinsTA	2.37:g.37406711_37406712delinsTA	ENSP00000444081:p.Arg140*		37260215	NM_001032377	B2RTS7	Nonsense_Mutation	DNP	ENST00000535679.1	37																																																																																					0.361	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377	
CEBPZ	10153	broad.mit.edu	37	2	37447545	37447545	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37447545G>T	ENST00000234170.5	-	5	2282	c.2137C>A	c.(2137-2139)Ctt>Att	p.L713I		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	713					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L713I(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGTTCCCAAAGACTTGTATTT	0.274																																					p.L713I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2137A	2						.						44.0	45.0	45.0					2																	37447545		2203	4300	6503	37301049	SO:0001583	missense	10153	exon5			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2137C>A	2.37:g.37447545G>T	ENSP00000234170:p.Leu713Ile		37301049	NM_005760	Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358849	0.41801	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.29917	1.55	5.6	3.69	0.42338	Armadillo-type fold (1);CCAAT-binding factor (1);	0.060912	0.64402	D	0.000003	T	0.44265	0.1285	M	0.88570	2.965	0.44247	D	0.997095	P	0.42556	0.783	P	0.44518	0.452	T	0.48456	-0.9034	10	0.87932	D	0	.	9.5356	0.39220	0.2393:0.0:0.7607:0.0	.	713	Q03701	CEBPZ_HUMAN	I	713	ENSP00000234170:L713I	ENSP00000234170:L713I	L	-	1	0	CEBPZ	37301049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.794000	0.47853	0.632000	0.30432	0.650000	0.86243	CTT		0.274	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760	
PRKD3	23683	broad.mit.edu	37	2	37518061	37518061	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37518061T>C	ENST00000379066.1	-	4	1271	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	PRKD3_ENST00000234179.2_Missense_Mutation_p.Y170C			O94806	KPCD3_HUMAN	protein kinase D3	170					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.Y170C(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTCACCACAGTAATCACAGAA	0.373																																					p.Y170C	Melanoma(80;621 1355 8613 11814 51767)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A509G	2						.						157.0	152.0	154.0					2																	37518061		2203	4300	6503	37371565	SO:0001583	missense	23683	exon3			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.509A>G	2.37:g.37518061T>C	ENSP00000368356:p.Tyr170Cys		37371565	NM_005813	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015057	0.75161	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	D;D;D	0.93189	-3.18;-3.18;-3.18	4.84	4.84	0.62591	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.070514	0.64402	D	0.000016	D	0.95262	0.8463	L	0.60012	1.86	0.58432	D	0.999993	D;D	0.67145	0.995;0.996	D;D	0.64687	0.917;0.928	D	0.95629	0.8688	10	0.66056	D	0.02	-20.0606	14.7407	0.69451	0.0:0.0:0.0:1.0	.	170;170	O94806-2;O94806	.;KPCD3_HUMAN	C	170;170;66	ENSP00000368356:Y170C;ENSP00000234179:Y170C;ENSP00000401839:Y66C	ENSP00000234179:Y170C	Y	-	2	0	PRKD3	37371565	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.997000	0.88414	1.932000	0.55993	0.533000	0.62120	TAC		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
QPCT	25797	broad.mit.edu	37	2	37596913	37596913	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:37596913G>T	ENST00000338415.3	+	5	967	c.809G>T	c.(808-810)aGa>aTa	p.R270I	QPCT_ENST00000537448.1_Missense_Mutation_p.R221I	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	270					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.R270I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TGGTTCGAAAGACTTCAAGCA	0.338																																					p.R270I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809T	2						.						92.0	92.0	92.0					2																	37596913		2203	4300	6503	37450417	SO:0001583	missense	25797	exon5			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.809G>T	2.37:g.37596913G>T	ENSP00000344829:p.Arg270Ile		37450417	NM_012413	Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217626	0.58560	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.24	5.24	0.73138	Peptidase M28 (1);	0.118119	0.64402	D	0.000009	T	0.54208	0.1844	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.62647	-0.6810	10	0.72032	D	0.01	-23.8759	18.8415	0.92186	0.0:0.0:1.0:0.0	.	221;270	Q16769-2;Q16769	.;QPCT_HUMAN	I	270;221;221;35	ENSP00000344829:R270I;ENSP00000385391:R221I;ENSP00000441606:R221I;ENSP00000389227:R35I	ENSP00000344829:R270I	R	+	2	0	QPCT	37450417	1.000000	0.71417	0.951000	0.38953	0.029000	0.11900	8.679000	0.91220	2.442000	0.82660	0.591000	0.81541	AGA		0.338	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2		
RMDN2	151393	broad.mit.edu	37	2	38216720	38216720	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:38216720G>T	ENST00000406384.1	+	6	1022	c.828G>T	c.(826-828)gaG>gaT	p.E276D	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.E131D|RMDN2_ENST00000234195.3_Missense_Mutation_p.E454D|RMDN2_ENST00000354545.2_Missense_Mutation_p.E276D|RMDN2_ENST00000407257.1_Missense_Mutation_p.E454D	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	276						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.E454D(1)									CTGAGTTTGAGGGTTTACAAA	0.338																																					p.E131D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G393T	2						.						179.0	161.0	167.0					2																	38216720		2203	4300	6503	38070224	SO:0001583	missense	151393	exon5			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.828G>T	2.37:g.38216720G>T	ENSP00000386004:p.Glu276Asp		38070224	NM_001170793	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.37|13.37	2.217960|2.217960	0.39201|0.39201	.|.	.|.	ENSG00000115841|ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857|ENST00000425641	T;T;T;T;T;T|.	0.54675|.	0.56;0.56;0.56;0.56;0.56;0.56|.	5.8|5.8	2.05|2.05	0.26809|0.26809	.|.	0.190168|.	0.45126|.	D|.	0.000381|.	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.55103|0.55103	1.725|1.725	0.30259|0.30259	N|N	0.793356|0.793356	B;B;B;B|.	0.28584|.	0.216;0.062;0.032;0.062|.	B;B;B;B|.	0.36845|.	0.234;0.093;0.031;0.093|.	T|T	0.45963|0.45963	-0.9225|-0.9225	10|5	0.49607|.	T|.	0.09|.	-10.3783|-10.3783	7.1915|7.1915	0.25828|0.25828	0.4177:0.0:0.5823:0.0|0.4177:0.0:0.5823:0.0	.|.	454;131;276;131|.	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3|.	.;.;RMD2_HUMAN;.|.	D|W	276;276;454;131;454;131|11	ENSP00000346549:E276D;ENSP00000386004:E276D;ENSP00000385049:E454D;ENSP00000392977:E131D;ENSP00000234195:E454D;ENSP00000416367:E131D|.	ENSP00000234195:E454D|.	E|G	+|+	3|1	2|0	FAM82A1|FAM82A1	38070224|38070224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.377000|0.377000	0.20552|0.20552	0.388000|0.388000	0.25054|0.25054	0.650000|0.650000	0.86243|0.86243	GAG|GGG		0.338	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
RMDN2	151393	broad.mit.edu	37	2	38224620	38224620	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:38224620C>A	ENST00000406384.1	+	8	1201	c.1007C>A	c.(1006-1008)tCt>tAt	p.S336Y	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.S191Y|RMDN2_ENST00000234195.3_Missense_Mutation_p.S514Y|RMDN2_ENST00000354545.2_Missense_Mutation_p.S336Y|RMDN2_ENST00000407257.1_Missense_Mutation_p.S514Y	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	336						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.S514Y(1)									AAAATACCATCTTCAACTGTA	0.373																																					p.S191Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	2						.						131.0	130.0	130.0					2																	38224620		2203	4300	6503	38078124	SO:0001583	missense	151393	exon7			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.1007C>A	2.37:g.38224620C>A	ENSP00000386004:p.Ser336Tyr		38078124	NM_001170793	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243517	0.39697	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.82	4.93	0.64822	Tetratricopeptide-like helical (1);	0.329374	0.30695	N	0.009076	T	0.53481	0.1799	M	0.76170	2.325	0.31708	N	0.639825	P;B;B;B	0.37423	0.594;0.016;0.016;0.009	B;B;B;B	0.40565	0.333;0.014;0.014;0.014	T	0.66976	-0.5787	10	0.72032	D	0.01	-7.744	14.2835	0.66228	0.1493:0.8507:0.0:0.0	.	514;191;336;191	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	Y	336;336;514;191;514;191	ENSP00000346549:S336Y;ENSP00000386004:S336Y;ENSP00000385049:S514Y;ENSP00000392977:S191Y;ENSP00000234195:S514Y;ENSP00000416367:S191Y	ENSP00000234195:S514Y	S	+	2	0	FAM82A1	38078124	1.000000	0.71417	0.910000	0.35882	0.853000	0.48598	2.667000	0.46808	1.437000	0.47472	0.655000	0.94253	TCT		0.373	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
CYP1B1	1545	broad.mit.edu	37	2	38298077	38298077	+	Nonsense_Mutation	SNP	C	C	A	rs72549374		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:38298077C>A	ENST00000260630.3	-	3	1821	c.1420G>T	c.(1420-1422)Gaa>Taa	p.E474*	CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Nonsense_Mutation_p.E474*	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	474					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.E474*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TTAGAAAGTTCTTCGCCAATG	0.473																																					p.E474X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1420T	2						.						74.0	74.0	74.0					2																	38298077		2203	4300	6503	38151581	SO:0001587	stop_gained	1545	exon3			U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1420G>T	2.37:g.38298077C>A	ENSP00000260630:p.Glu474*		38151581	NM_000104	Q5TZW8|Q93089|Q9H316	Nonsense_Mutation	SNP	ENST00000260630.3	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	37	6.167172	0.97343	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	.	.	.	5.95	5.08	0.68730	.	0.046997	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.1458	0.59461	0.0:0.9229:0.0:0.0771	.	.	.	.	X	474	.	ENSP00000260630:E474X	E	-	1	0	CYP1B1	38151581	0.991000	0.36638	0.528000	0.27938	0.172000	0.22775	2.300000	0.43620	1.526000	0.49068	0.655000	0.94253	GAA		0.473	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	
SRSF7	6432	broad.mit.edu	37	2	38976794	38976794	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:38976794C>T	ENST00000313117.6	-	3	500	c.263G>A	c.(262-264)aGa>aAa	p.R88K	SRSF7_ENST00000409276.1_Missense_Mutation_p.R88K|GEMIN6_ENST00000409011.1_5'Flank|SRSF7_ENST00000446327.2_Missense_Mutation_p.R88K	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	88	Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R88K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAAACGTGATCTCCGAGGCAT	0.413																																					p.R88K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	2						.						105.0	96.0	99.0					2																	38976794		2203	4300	6503	38830298	SO:0001583	missense	6432	exon3			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.263G>A	2.37:g.38976794C>T	ENSP00000325905:p.Arg88Lys		38830298	NM_001031684	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495210	0.44352	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.74842	-0.88;-0.88;-0.88	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000001	T	0.61862	0.2381	N	0.20685	0.6	0.43417	D	0.995569	B;B	0.31680	0.335;0.138	B;B	0.30943	0.122;0.057	T	0.58640	-0.7601	10	0.10902	T	0.67	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	88;88	G5E9M3;Q16629	.;SRSF7_HUMAN	K	88	ENSP00000325905:R88K;ENSP00000402264:R88K;ENSP00000386806:R88K	ENSP00000325905:R88K	R	-	2	0	SRSF7	38830298	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.661000	0.54503	2.805000	0.96524	0.655000	0.94253	AGA		0.413	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684	
DHX57	90957	broad.mit.edu	37	2	39025560	39025560	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39025560G>A	ENST00000295373.6	-	24	4168	c.4042C>T	c.(4042-4044)Cgt>Tgt	p.R1348C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1348							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1348C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTTCGCAACGAAGCTCCTTT	0.438																																					p.R1348C	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4042T	2						.						107.0	97.0	101.0					2																	39025560		2203	4300	6503	38879064	SO:0001583	missense	90957	exon24			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.4042C>T	2.37:g.39025560G>A	ENSP00000295373:p.Arg1348Cys		38879064	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.407876|4.407876	0.83340|0.83340	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.09538|.	2.97|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.52532|.	D|.	0.000066|.	D|D	0.86226|0.86226	0.5882|0.5882	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.88655|0.88655	0.3185|0.3185	10|5	0.87932|.	D|.	0|.	.|.	19.192|19.192	0.93671|0.93671	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1348;695|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	C|L	1348|626	ENSP00000295373:R1348C|.	ENSP00000295373:R1348C|.	R|S	-|-	1|2	0|0	DHX57|DHX57	38879064|38879064	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.827000|0.827000	0.46813|0.46813	7.403000|7.403000	0.79983|0.79983	2.716000|2.716000	0.92895|0.92895	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.438	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
DHX57	90957	broad.mit.edu	37	2	39033813	39033813	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39033813A>C	ENST00000295373.6	-	22	3830	c.3704T>G	c.(3703-3705)tTt>tGt	p.F1235C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1235							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F1235C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGTCTTCTGAAATTTTCCTTC	0.358																																					p.F1235C	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3704G	2						.						123.0	113.0	117.0					2																	39033813		2203	4300	6503	38887317	SO:0001583	missense	90957	exon22			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3704T>G	2.37:g.39033813A>C	ENSP00000295373:p.Phe1235Cys		38887317	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424673	0.62733	.	.	ENSG00000163214	ENST00000295373	T	0.02974	4.09	5.37	2.74	0.32292	Domain of unknown function DUF1605 (1);	0.112412	0.40385	N	0.001113	T	0.11324	0.0276	M	0.79926	2.475	0.41589	D	0.988783	D	0.71674	0.998	D	0.63113	0.911	T	0.00603	-1.1649	10	0.62326	D	0.03	.	8.98	0.35959	0.7144:0.0:0.0:0.2856	.	1235	Q6P158	DHX57_HUMAN	C	1235	ENSP00000295373:F1235C	ENSP00000295373:F1235C	F	-	2	0	DHX57	38887317	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.098000	0.50259	2.042000	0.60477	0.379000	0.24179	TTT		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
DHX57	90957	broad.mit.edu	37	2	39088341	39088341	+	Missense_Mutation	SNP	G	G	A	rs369485938		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39088341G>A	ENST00000295373.6	-	5	1337	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	404							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S404L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GACAGGTTCCGAAGTTTCCGC	0.418																																					p.S404L	Melanoma(191;1090 2095 4375 23729 47341)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1211T	2						.	G	LEU/SER	0,4406		0,0,2203	87.0	89.0	88.0		1211	5.7	1.0	2		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHX57	NM_198963.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	404/1387	39088341	1,13005	2203	4300	6503	38941845	SO:0001583	missense	90957	exon5			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1211C>T	2.37:g.39088341G>A	ENSP00000295373:p.Ser404Leu		38941845	NM_198963	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939968	0.52972	0.0	1.16E-4	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.24151	1.87	5.67	5.67	0.87782	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.689880	0.12600	N	0.454833	T	0.25158	0.0611	L	0.40543	1.245	0.28468	N	0.91555	P;B	0.49185	0.92;0.433	B;B	0.43445	0.42;0.195	T	0.16958	-1.0385	10	0.87932	D	0	.	9.8217	0.40887	0.0:0.1246:0.6848:0.1907	.	404;404	Q6P158-2;Q6P158	.;DHX57_HUMAN	L	404;302	ENSP00000295373:S404L	ENSP00000295373:S404L	S	-	2	0	DHX57	38941845	0.015000	0.18098	0.982000	0.44146	0.810000	0.45777	1.551000	0.36233	2.677000	0.91161	0.655000	0.94253	TCG		0.418	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	
SOS1	6654	broad.mit.edu	37	2	39213270	39213270	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39213270G>T	ENST00000426016.1	-	24	3783	c.3697C>A	c.(3697-3699)Ctc>Atc	p.L1233I	SOS1_ENST00000402219.2_Missense_Mutation_p.L1233I|SOS1_ENST00000395038.2_Missense_Mutation_p.L1218I			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1233					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1233I(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGAGGTTGGAGATGTAGTGGT	0.522									Noonan syndrome																												p.L1233I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3697A	2						.						143.0	149.0	147.0					2																	39213270		2203	4300	6503	39066774	SO:0001583	missense	6654	exon23	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3697C>A	2.37:g.39213270G>T	ENSP00000387784:p.Leu1233Ile		39066774	NM_005633	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220519	0.79464	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.78126	-1.05;-1.05;-1.15	5.8	5.8	0.92144	.	0.134989	0.50627	D	0.000109	D	0.85531	0.5718	L	0.52573	1.65	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.84701	0.0728	10	0.51188	T	0.08	.	20.0586	0.97663	0.0:0.0:1.0:0.0	.	1233	Q07889	SOS1_HUMAN	I	1233;1233;950;1218	ENSP00000387784:L1233I;ENSP00000384675:L1233I;ENSP00000378479:L1218I	ENSP00000378479:L1218I	L	-	1	0	SOS1	39066774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.610000	0.90902	2.741000	0.93983	0.650000	0.86243	CTC		0.522	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633	
MAP4K3	8491	broad.mit.edu	37	2	39552677	39552677	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39552677G>A	ENST00000263881.3	-	12	1224	c.900C>T	c.(898-900)ttC>ttT	p.F300F	RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000341681.5_Silent_p.F300F|MAP4K3_ENST00000437545.1_Silent_p.F237F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	300					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.F300F(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATCATCATCGAAATCATGGT	0.358																																					p.F300F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C900T	2						.						102.0	98.0	99.0					2																	39552677		2203	4300	6503	39406181	SO:0001819	synonymous_variant	8491	exon12			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.900C>T	2.37:g.39552677G>A			39406181	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Silent	SNP	ENST00000263881.3	37	CCDS1803.1																																																																																				0.358	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
TMEM178A	130733	broad.mit.edu	37	2	39931316	39931316	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39931316G>T	ENST00000281961.2	+	2	552	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	166						integral component of membrane (GO:0016021)		p.D166Y(1)									CATACAGCAAGATGAGTGGCA	0.473																																					p.D166Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496T	2						.						90.0	80.0	83.0					2																	39931316		2203	4300	6503	39784820	SO:0001583	missense	130733	exon2			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.496G>T	2.37:g.39931316G>T	ENSP00000281961:p.Asp166Tyr		39784820	NM_152390	Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358265	0.82243	.	.	ENSG00000152154	ENST00000281961	T	0.55413	0.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71328	-0.4626	9	.	.	.	-8.5976	17.2112	0.86930	0.0:0.0:1.0:0.0	.	166	Q8NBL3	TM178_HUMAN	Y	166	ENSP00000281961:D166Y	.	D	+	1	0	TMEM178	39784820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.431000	0.90285	2.653000	0.90120	0.655000	0.94253	GAT		0.473	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	
TMEM178A	130733	broad.mit.edu	37	2	39944352	39944352	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39944352G>T	ENST00000281961.2	+	4	911	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	285						integral component of membrane (GO:0016021)		p.K285N(1)									GCCGGACCAAGATTGCACAGC	0.542																																					p.K285N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G855T	2						.						138.0	126.0	130.0					2																	39944352		2203	4300	6503	39797856	SO:0001583	missense	130733	exon4			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.855G>T	2.37:g.39944352G>T	ENSP00000281961:p.Lys285Asn		39797856	NM_152390	Q6UWI6|Q8N6N4	Missense_Mutation	SNP	ENST00000281961.2	37	CCDS1804.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653964	0.47362	.	.	ENSG00000152154	ENST00000281961	T	0.50548	0.74	5.91	5.91	0.95273	.	0.258350	0.38897	N	0.001538	T	0.28234	0.0697	N	0.08118	0	0.48452	D	0.999652	P	0.38978	0.652	B	0.33960	0.173	T	0.11179	-1.0598	9	.	.	.	-10.0119	17.7923	0.88558	0.0:0.0:1.0:0.0	.	285	Q8NBL3	TM178_HUMAN	N	285	ENSP00000281961:K285N	.	K	+	3	2	TMEM178	39797856	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	3.830000	0.55768	2.793000	0.96121	0.655000	0.94253	AAG		0.542	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390	
THUMPD2	80745	broad.mit.edu	37	2	39997145	39997145	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:39997145G>T	ENST00000505747.1	-	3	404	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	THUMPD2_ENST00000454352.2_Missense_Mutation_p.S96Y|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.S96Y	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	126							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.S96Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATCTCTCTGAGAAAGTTTTTC	0.303																																					p.S126Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C377A	2						.						56.0	55.0	55.0					2																	39997145		2201	4294	6495	39850649	SO:0001583	missense	80745	exon3			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.377C>A	2.37:g.39997145G>T	ENSP00000423933:p.Ser126Tyr		39850649	NM_025264	A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282823	0.40394	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.71	4.84	0.62591	.	0.611001	0.17676	N	0.165800	T	0.51856	0.1699	L	0.59436	1.845	0.27207	N	0.960028	P;D;D	0.61080	0.923;0.989;0.981	P;P;P	0.55667	0.657;0.781;0.781	T	0.46925	-0.9156	8	.	.	.	.	10.833	0.46671	0.0866:0.0:0.9134:0.0	.	96;33;126	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	Y	126;96;96	.	.	S	-	2	0	THUMPD2	39850649	0.938000	0.31826	0.630000	0.29268	0.165000	0.22458	2.615000	0.46368	1.409000	0.46915	0.650000	0.86243	TCT		0.303	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	
SLC8A1	6546	broad.mit.edu	37	2	40656512	40656512	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:40656512G>T	ENST00000403092.1	-	2	942	c.909C>A	c.(907-909)ttC>ttA	p.F303L	SLC8A1_ENST00000542024.1_Missense_Mutation_p.F303L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F303L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F303L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F303L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F303L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F303L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F303L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F303L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F303L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	303					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.F303L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCATCTAAGAAATTTTCAA	0.443																																					p.F303L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C909A	2						.						139.0	146.0	144.0					2																	40656512		2203	4300	6503	40510016	SO:0001583	missense	6546	exon1				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.909C>A	2.37:g.40656512G>T	ENSP00000384763:p.Phe303Leu		40510016	NM_001112800	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898345	0.33535	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.26810	1.72;1.75;1.75;1.75;1.72;1.72;1.75;1.71;1.72;1.72	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	N	0.25144	0.715	0.80722	D	1	B;D;B;B;B	0.57257	0.023;0.979;0.016;0.193;0.061	B;D;B;B;B	0.75484	0.098;0.986;0.082;0.066;0.081	T	0.04678	-1.0934	10	0.09338	T	0.73	.	11.211	0.48797	0.0823:0.0:0.9177:0.0	.	303;303;303;303;303	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	L	303	ENSP00000383886:F303L;ENSP00000440727:F303L;ENSP00000384763:F303L;ENSP00000385678:F303L;ENSP00000385188:F303L;ENSP00000385535:F303L;ENSP00000332931:F303L;ENSP00000384908:F303L;ENSP00000385811:F303L;ENSP00000443515:F303L	ENSP00000332931:F303L	F	-	3	2	SLC8A1	40510016	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.383000	0.52471	2.832000	0.97577	0.655000	0.94253	TTC		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	
MTA3	57504	broad.mit.edu	37	2	42931347	42931347	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:42931347C>T	ENST00000405094.1	+	12	1039	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	MTA3_ENST00000406652.1_Missense_Mutation_p.P290S|MTA3_ENST00000405592.1_Missense_Mutation_p.P290S|MTA3_ENST00000406911.1_Missense_Mutation_p.P346S|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000407270.3_Missense_Mutation_p.P347S			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	347						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P347S(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CAAACCAAATCCCAACCAAAT	0.408																																					p.P347S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039T	2						.						68.0	65.0	66.0					2																	42931347		1887	4105	5992	42784851	SO:0001583	missense	57504	exon12			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1039C>T	2.37:g.42931347C>T	ENSP00000385823:p.Pro347Ser		42784851	NM_020744	Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37		.	.	.	.	.	.	.	.	.	.	C	17.81	3.480408	0.63849	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.50001	0.76;0.76;0.84;0.83;0.79	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.85373	2.75	0.58432	D	0.999995	D;D;P	0.89917	1.0;1.0;0.866	D;D;P	0.83275	0.996;0.996;0.566	T	0.78411	-0.2214	10	0.72032	D	0.01	-15.0189	16.3774	0.83410	0.0:0.868:0.132:0.0	.	346;347;290	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	S	290;290;347;347;346;347	ENSP00000383973:P290S;ENSP00000384249:P290S;ENSP00000385045:P347S;ENSP00000385241:P346S;ENSP00000385823:P347S	ENSP00000282366:P347S	P	+	1	0	MTA3	42784851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.557000	0.82243	1.319000	0.45190	0.563000	0.77884	CCC		0.408	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744	
THADA	63892	broad.mit.edu	37	2	43798992	43798992	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:43798992C>A	ENST00000405006.4	-	13	2269	c.1918G>T	c.(1918-1920)Gat>Tat	p.D640Y	THADA_ENST00000415080.2_Missense_Mutation_p.D350Y|THADA_ENST00000330266.7_Missense_Mutation_p.D350Y|THADA_ENST00000404790.1_Missense_Mutation_p.D640Y|THADA_ENST00000405975.2_Missense_Mutation_p.D640Y|THADA_ENST00000403856.1_Missense_Mutation_p.D640Y|THADA_ENST00000402360.2_Missense_Mutation_p.D640Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	640								p.D640Y(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTAATGTATCTATCCTTACC	0.323																																					p.D640Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1918T	2						.						108.0	110.0	109.0					2																	43798992		1847	4094	5941	43652496	SO:0001583	missense	63892	exon13			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1918G>T	2.37:g.43798992C>A	ENSP00000385995:p.Asp640Tyr		43652496	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229361	0.79688	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;1.18;1.18;1.42	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.73598	2.24	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.998;0.998	T	0.82303	-0.0524	10	0.87932	D	0	.	19.0152	0.92890	0.0:1.0:0.0:0.0	.	640;640;640;350;640	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	Y	350;640;640;350;640;640;640;640	ENSP00000331105:D350Y;ENSP00000386088:D640Y;ENSP00000416048:D350Y;ENSP00000385995:D640Y;ENSP00000385441:D640Y;ENSP00000384266:D640Y;ENSP00000385469:D640Y	ENSP00000331105:D350Y	D	-	1	0	THADA	43652496	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	7.325000	0.79124	2.563000	0.86464	0.591000	0.81541	GAT		0.323	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
THADA	63892	broad.mit.edu	37	2	43804357	43804357	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:43804357C>T	ENST00000405006.4	-	10	1192	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	THADA_ENST00000415080.2_De_novo_Start_InFrame|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000404790.1_Missense_Mutation_p.V281M|THADA_ENST00000405975.2_Missense_Mutation_p.V281M|THADA_ENST00000403856.1_Missense_Mutation_p.V281M|THADA_ENST00000402360.2_Missense_Mutation_p.V281M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	281								p.V281M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTGCAGTCCACTGAACGAAGC	0.443											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V281M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841A	2						.						24.0	25.0	25.0					2																	43804357		1965	4152	6117	43657861	SO:0001583	missense	63892	exon10			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.841G>A	2.37:g.43804357C>T	ENSP00000385995:p.Val281Met	919	43657861	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981962	0.74474	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.34472	2.82;2.82;1.4;1.4;1.36	5.28	4.37	0.52481	.	0.413650	0.23924	N	0.043205	T	0.47266	0.1436	M	0.61703	1.905	0.80722	D	1	D;P;D;P	0.55800	0.968;0.928;0.973;0.933	P;P;P;P	0.59171	0.819;0.772;0.853;0.596	T	0.41124	-0.9526	10	0.45353	T	0.12	-4.3772	6.975	0.24670	0.1297:0.6735:0.1256:0.0713	.	281;281;281;281	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	M	281	ENSP00000386088:V281M;ENSP00000385995:V281M;ENSP00000385441:V281M;ENSP00000384266:V281M;ENSP00000385469:V281M	ENSP00000349464:V281M	V	-	1	0	THADA	43657861	0.022000	0.18835	0.861000	0.33841	0.466000	0.32739	1.295000	0.33377	2.464000	0.83262	0.561000	0.74099	GTG		0.443	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
THADA	63892	broad.mit.edu	37	2	43818076	43818076	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:43818076C>A	ENST00000405006.4	-	4	540	c.189G>T	c.(187-189)gaG>gaT	p.E63D	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000404790.1_Missense_Mutation_p.E63D|THADA_ENST00000405975.2_Missense_Mutation_p.E63D|THADA_ENST00000403856.1_Missense_Mutation_p.E63D|THADA_ENST00000402360.2_Missense_Mutation_p.E63D	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	63			E -> G (in dbSNP:rs10210191).					p.E63D(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCTGCTTTCTCCAGCAGAG	0.323																																					p.E63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G189T	2						.						76.0	71.0	72.0					2																	43818076		1816	4073	5889	43671580	SO:0001583	missense	63892	exon4			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.189G>T	2.37:g.43818076C>A	ENSP00000385995:p.Glu63Asp		43671580	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499236	0.64298	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.35236	2.76;2.76;1.35;1.35;1.32	5.21	4.34	0.51931	.	0.213634	0.38837	N	0.001547	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.67145	0.99;0.976;0.996;0.958	P;P;P;P	0.62089	0.829;0.652;0.898;0.45	T	0.47407	-0.9120	10	0.38643	T	0.18	.	12.3086	0.54915	0.0:0.9219:0.0:0.0781	.	63;63;63;63	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	D	63	ENSP00000386088:E63D;ENSP00000385995:E63D;ENSP00000385441:E63D;ENSP00000384266:E63D;ENSP00000385469:E63D	ENSP00000349464:E63D	E	-	3	2	THADA	43671580	0.998000	0.40836	1.000000	0.80357	0.777000	0.43975	0.288000	0.18939	1.432000	0.47375	0.655000	0.94253	GAG		0.323	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
PLEKHH2	130271	broad.mit.edu	37	2	43919744	43919744	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:43919744C>T	ENST00000282406.4	+	4	388	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	93					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.S93L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATCTGGAGTCGCTAATACAG	0.338																																					p.S93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	2						.						89.0	94.0	92.0					2																	43919744		2203	4300	6503	43773248	SO:0001583	missense	130271	exon4			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.278C>T	2.37:g.43919744C>T	ENSP00000282406:p.Ser93Leu		43773248	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	9.790	1.177545	0.21787	.	.	ENSG00000152527	ENST00000282406	T	0.51817	0.69	5.24	1.1	0.20463	.	0.377447	0.28322	N	0.015775	T	0.33760	0.0874	L	0.43152	1.355	0.09310	N	1	B;B	0.23735	0.014;0.09	B;B	0.22601	0.001;0.04	T	0.17961	-1.0352	10	0.40728	T	0.16	-1.7573	6.0633	0.19850	0.0:0.4697:0.1293:0.401	.	93;93	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	L	93	ENSP00000282406:S93L	ENSP00000282406:S93L	S	+	2	0	PLEKHH2	43773248	0.021000	0.18746	0.095000	0.20976	0.840000	0.47671	0.316000	0.19469	0.613000	0.30089	-0.251000	0.11542	TCG		0.338	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
ABCG5	64240	broad.mit.edu	37	2	44040324	44040324	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44040324T>G	ENST00000260645.1	-	13	2026	c.1887A>C	c.(1885-1887)tcA>tcC	p.S629S	ABCG5_ENST00000543989.1_Silent_p.S234S|ABCG5_ENST00000405322.1_Silent_p.S458S	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	629	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.S629S(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGAATAAATGAATACAAAA	0.383																																					p.S629S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1887C	2						.						97.0	96.0	96.0					2																	44040324		2203	4300	6503	43893828	SO:0001819	synonymous_variant	64240	exon13			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1887A>C	2.37:g.44040324T>G			43893828	NM_022436	Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	CCDS1814.1																																																																																				0.383	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
LRPPRC	10128	broad.mit.edu	37	2	44115746	44115746	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44115746G>T	ENST00000260665.7	-	38	4235	c.4178C>A	c.(4177-4179)tCt>tAt	p.S1393Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1393	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S1393Y(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTTCAAGAAGAGTTTTCCCT	0.328																																					p.S1393Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4178A	2						.						87.0	90.0	89.0					2																	44115746		2203	4299	6502	43969250	SO:0001583	missense	10128	exon38			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4178C>A	2.37:g.44115746G>T	ENSP00000260665:p.Ser1393Tyr		43969250	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301404	0.40694	.	.	ENSG00000138095	ENST00000260665	T	0.57107	0.42	5.75	2.97	0.34412	.	0.701585	0.14273	N	0.330034	T	0.35970	0.0950	L	0.43152	1.355	0.09310	N	1	P	0.37864	0.61	B	0.24701	0.055	T	0.29640	-1.0005	10	0.62326	D	0.03	-14.4087	5.5607	0.17142	0.1515:0.0:0.5649:0.2836	.	1393	P42704	LPPRC_HUMAN	Y	1393	ENSP00000260665:S1393Y	ENSP00000260665:S1393Y	S	-	2	0	LRPPRC	43969250	0.032000	0.19561	0.002000	0.10522	0.004000	0.04260	0.993000	0.29680	0.775000	0.33450	0.655000	0.94253	TCT		0.328	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
LRPPRC	10128	broad.mit.edu	37	2	44170992	44170992	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44170992G>A	ENST00000260665.7	-	23	2395	c.2338C>T	c.(2338-2340)Ctt>Ttt	p.L780F		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	780					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L780F(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTTTGATAAGAACATCCTTC	0.373																																					p.L780F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2338T	2						.						117.0	116.0	117.0					2																	44170992		2203	4300	6503	44024496	SO:0001583	missense	10128	exon23			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2338C>T	2.37:g.44170992G>A	ENSP00000260665:p.Leu780Phe		44024496	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	7.998	0.754746	0.15778	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56103	0.48	6.16	4.31	0.51392	.	0.583803	0.18628	N	0.135675	T	0.47691	0.1459	L	0.51422	1.61	0.80722	D	1	B;B	0.34103	0.005;0.437	B;B	0.35353	0.009;0.201	T	0.32587	-0.9901	10	0.09590	T	0.72	-0.6534	17.0992	0.86644	0.0:0.2631:0.7369:0.0	.	680;780	F5H4J6;P42704	.;LPPRC_HUMAN	F	680;780	ENSP00000260665:L780F	ENSP00000260665:L780F	L	-	1	0	LRPPRC	44024496	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.637000	0.24659	0.861000	0.35504	0.650000	0.86243	CTT		0.373	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
PPM1B	5495	broad.mit.edu	37	2	44445125	44445125	+	Silent	SNP	C	C	T	rs150223863	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44445125C>T	ENST00000282412.4	+	4	1396	c.984C>T	c.(982-984)ggC>ggT	p.G328G	PPM1B_ENST00000409432.3_Silent_p.G328G|PPM1B_ENST00000345249.4_Silent_p.G41G|PPM1B_ENST00000378551.2_Silent_p.G328G|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	328					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.G328G(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAAGTCTGGCGAGGAAGGAA	0.418													C|||	2	0.000399361	0.0	0.0	5008	,	,		15270	0.0		0.002	False		,,,				2504	0.0				p.G41G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	2						.	C	,,,	0,4406		0,0,2203	77.0	80.0	79.0		984,984,984,123	-4.3	1.0	2	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPM1B	NM_001033557.1,NM_002706.4,NM_177968.2,NM_177969.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	328/381,328/480,328/388,41/193	44445125	1,13005	2203	4300	6503	44298629	SO:0001819	synonymous_variant	5495	exon3			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.984C>T	2.37:g.44445125C>T			44298629	NM_177969	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	37	CCDS1817.1																																																																																				0.418	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	
PREPL	9581	broad.mit.edu	37	2	44565627	44565627	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44565627A>C	ENST00000409936.1	-	8	1455	c.1018T>G	c.(1018-1020)Ttt>Gtt	p.F340V	PREPL_ENST00000409957.1_Missense_Mutation_p.F251V|PREPL_ENST00000260648.6_Missense_Mutation_p.F340V|PREPL_ENST00000410081.1_Missense_Mutation_p.F340V|PREPL_ENST00000409272.1_Missense_Mutation_p.F340V|PREPL_ENST00000378520.3_Missense_Mutation_p.F340V|PREPL_ENST00000541738.1_Missense_Mutation_p.F251V|PREPL_ENST00000378511.3_Intron|PREPL_ENST00000409411.1_Missense_Mutation_p.F251V	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	340						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.F340V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTGTAAAAAATAAATCCCAA	0.363																																					p.F251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T751G	2						.						80.0	75.0	77.0					2																	44565627		2203	4300	6503	44419131	SO:0001583	missense	9581	exon7			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1018T>G	2.37:g.44565627A>C	ENSP00000386543:p.Phe340Val		44419131	NM_001171613	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	A	2.227	-0.377066	0.05000	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.35	2.88	0.33553	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.249687	0.39909	N	0.001233	T	0.08268	0.0206	N	0.00413	-1.525	0.27108	N	0.962442	B;B	0.23185	0.003;0.081	B;B	0.20184	0.001;0.028	T	0.30794	-0.9966	10	0.13470	T	0.59	-20.5314	6.1325	0.20213	0.4827:0.3853:0.0:0.1321	.	340;340	Q4J6C6-2;Q4J6C6	.;PPCEL_HUMAN	V	251;251;251;340;340;340;340;340	ENSP00000439626:F251V;ENSP00000387095:F251V;ENSP00000387241:F251V;ENSP00000386543:F340V;ENSP00000260648:F340V;ENSP00000386909:F340V;ENSP00000386509:F340V;ENSP00000367781:F340V	ENSP00000260648:F340V	F	-	1	0	PREPL	44419131	0.960000	0.32886	0.999000	0.59377	0.889000	0.51656	2.240000	0.43088	2.021000	0.59480	0.533000	0.62120	TTT		0.363	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036	
PREPL	9581	broad.mit.edu	37	2	44586653	44586653	+	Missense_Mutation	SNP	G	G	A	rs202213424		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:44586653G>A	ENST00000409936.1	-	2	639	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	CAMKMT_ENST00000378494.3_5'Flank|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.R68W|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000410081.1_Missense_Mutation_p.R68W|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.R68W|PREPL_ENST00000378520.3_Missense_Mutation_p.R68W|PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000407131.1_5'Flank|PREPL_ENST00000378511.3_Missense_Mutation_p.R68W|PREPL_ENST00000409411.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	68						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.R68W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAGAAGCTCCGACTTGGGATG	0.303													G|||	1	0.000199681	0.0	0.0	5008	,	,		18038	0.001		0.0	False		,,,				2504	0.0				p.R68W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	2						.						138.0	140.0	139.0					2																	44586653		2203	4300	6503	44440157	SO:0001583	missense	9581	exon1			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.202C>T	2.37:g.44586653G>A	ENSP00000386543:p.Arg68Trp		44440157	NM_001042385	A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	CCDS33190.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.12	3.553825	0.65425	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	4.38	0.52667	.	0.251803	0.28409	N	0.015459	T	0.51176	0.1659	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.976	T	0.59215	-0.7496	9	0.66056	D	0.02	-13.6207	11.022	0.47724	0.0:0.0:0.8148:0.1852	.	68;68;68	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	W	68	.	ENSP00000260648:R68W	R	-	1	2	PREPL	44440157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.781000	0.38644	1.407000	0.46875	0.655000	0.94253	CGG		0.303	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036	
SIX2	10736	broad.mit.edu	37	2	45235844	45235844	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:45235844G>A	ENST00000303077.6	-	1	725	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	136					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R136C(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCACGCTGCGACTCTTTTCC	0.667																																					p.R136C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406T	2						.						55.0	59.0	57.0					2																	45235844		2203	4300	6503	45089348	SO:0001583	missense	10736	exon1			AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.406C>T	2.37:g.45235844G>A	ENSP00000304502:p.Arg136Cys		45089348	NM_016932	Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488359	0.84854	.	.	ENSG00000170577	ENST00000303077	D	0.96232	-3.95	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99755	1.1019	10	0.87932	D	0	-32.1445	18.33	0.90265	0.0:0.0:1.0:0.0	.	136;136	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	C	136	ENSP00000304502:R136C	ENSP00000304502:R136C	R	-	1	0	SIX2	45089348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.509000	0.53386	2.413000	0.81919	0.462000	0.41574	CGC		0.667	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2		
SRBD1	55133	broad.mit.edu	37	2	45774717	45774717	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:45774717A>C	ENST00000263736.4	-	13	1772	c.1710T>G	c.(1708-1710)caT>caG	p.H570Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.H89Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	570					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.H570Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTGTCCACAATGCAAGTAAA	0.318																																					p.H570Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1710G	2						.						65.0	64.0	65.0					2																	45774717		2203	4299	6502	45628221	SO:0001583	missense	55133	exon13			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1710T>G	2.37:g.45774717A>C	ENSP00000263736:p.His570Gln		45628221	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707797	0.68615	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.46451	0.87;0.87	5.54	1.91	0.25777	YqgF/RNase H-like domain (2);	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	M	0.87682	2.9	0.41085	D	0.98555	D	0.76494	0.999	D	0.66196	0.942	T	0.62464	-0.6849	10	0.72032	D	0.01	.	8.2251	0.31564	0.6987:0.0:0.3013:0.0	.	570	Q8N5C6	SRBD1_HUMAN	Q	570;89	ENSP00000263736:H570Q;ENSP00000441272:H89Q	ENSP00000263736:H570Q	H	-	3	2	SRBD1	45628221	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.569000	0.36428	0.084000	0.17077	0.533000	0.62120	CAT		0.318	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
SRBD1	55133	broad.mit.edu	37	2	45832558	45832558	+	Missense_Mutation	SNP	G	G	A	rs113207448	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:45832558G>A	ENST00000263736.4	-	2	85	c.23C>T	c.(22-24)gCg>gTg	p.A8V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	8					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.A8V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGTACTTTCGCTCTTCTTGG	0.358																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	2						.	G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	168.0	166.0	167.0		23	4.7	1.0	2	dbSNP_132	167	2,8598	2.2+/-6.3	0,2,4298	no	missense	SRBD1	NM_018079.4	64	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	benign	8/996	45832558	5,13001	2203	4300	6503	45686062	SO:0001583	missense	55133	exon2			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.23C>T	2.37:g.45832558G>A	ENSP00000263736:p.Ala8Val		45686062	NM_018079	Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068235	0.36470	6.81E-4	2.33E-4	ENSG00000068784	ENST00000263736	T	0.26810	1.71	5.58	4.69	0.59074	.	0.336216	0.25494	N	0.030292	T	0.13628	0.0330	N	0.12746	0.255	0.80722	D	1	B	0.19445	0.036	B	0.10450	0.005	T	0.10132	-1.0643	10	0.18276	T	0.48	.	10.8543	0.46789	0.0883:0.0:0.9117:0.0	.	8	Q8N5C6	SRBD1_HUMAN	V	8	ENSP00000263736:A8V	ENSP00000263736:A8V	A	-	2	0	SRBD1	45686062	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	2.605000	0.46283	1.342000	0.45619	0.655000	0.94253	GCG		0.358	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
PRKCE	5581	broad.mit.edu	37	2	45879282	45879282	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:45879282G>A	ENST00000306156.3	+	1	370	c.43G>A	c.(43-45)Gcc>Acc	p.A15T		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	15	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.A15T(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	AATCTGCGAGGCCGTGAGCTT	0.622																																					p.A15T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43A	2						.						41.0	45.0	44.0					2																	45879282		2202	4299	6501	45732786	SO:0001583	missense	5581	exon1				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.43G>A	2.37:g.45879282G>A	ENSP00000306124:p.Ala15Thr		45732786	NM_005400	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	35	5.558753	0.96514	.	.	ENSG00000171132	ENST00000421201;ENST00000306156	T;T	0.25414	1.8;1.8	4.71	4.71	0.59529	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.069396	0.56097	D	0.000033	T	0.61974	0.2390	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74300	-0.3710	10	0.87932	D	0	.	17.673	0.88224	0.0:0.0:1.0:0.0	.	15	Q02156	KPCE_HUMAN	T	15	ENSP00000394574:A15T;ENSP00000306124:A15T	ENSP00000306124:A15T	A	+	1	0	PRKCE	45732786	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.766000	0.98957	2.152000	0.67230	0.561000	0.74099	GCC		0.622	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2		
PRKCE	5581	broad.mit.edu	37	2	46207445	46207445	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:46207445C>T	ENST00000306156.3	+	5	945	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	206					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.C206C(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TCTGCACCTGCGTGGTCCACA	0.527																																					p.C206C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	2						.						70.0	67.0	68.0					2																	46207445		1824	3811	5635	46060949	SO:0001819	synonymous_variant	5581	exon5				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.618C>T	2.37:g.46207445C>T			46060949	NM_005400	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	ENST00000306156.3	37	CCDS1824.1																																																																																				0.527	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2		
MSH2	4436	broad.mit.edu	37	2	47639556	47639556	+	Missense_Mutation	SNP	A	A	C	rs267607929|rs63751602		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:47639556A>C	ENST00000233146.2	+	4	872	c.649A>C	c.(649-651)Att>Ctt	p.I217L	MSH2_ENST00000543555.1_Missense_Mutation_p.I151L|MSH2_ENST00000406134.1_Missense_Mutation_p.I217L	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	217					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)|p.I217L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAATAGATAATTCAAAGAGG	0.303			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.I217L		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	4	Whole gene deletion(2)|Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	c.A649C	2						.						37.0	39.0	38.0					2																	47639556		2202	4300	6502	47493060	SO:0001583	missense	4436	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.649A>C	2.37:g.47639556A>C	ENSP00000233146:p.Ile217Leu		47493060	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	3.647	-0.072248	0.07228	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792;ENST00000413880	D;D;D	0.85484	-1.99;-1.99;-1.99	5.3	2.91	0.33838	DNA mismatch repair protein MutS, connector (1);	0.196466	0.44483	D	0.000443	T	0.63674	0.2531	N	0.05414	-0.055	0.38098	D	0.937179	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.15484	0.005;0.001;0.003;0.013	T	0.52616	-0.8552	10	0.08599	T	0.76	-7.169	5.2615	0.15576	0.6498:0.1465:0.2037:0.0	.	151;217;217;217	B4E2Z2;E7EQQ1;E9PHA6;P43246	.;.;.;MSH2_HUMAN	L	217;151;217;217;217;217;217;217;53	ENSP00000233146:I217L;ENSP00000442697:I151L;ENSP00000384199:I217L	ENSP00000233146:I217L	I	+	1	0	MSH2	47493060	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	3.258000	0.51507	0.852000	0.35287	0.456000	0.33151	ATT		0.303	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH2	4436	broad.mit.edu	37	2	47656939	47656939	+	Missense_Mutation	SNP	G	G	T	rs193922372		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:47656939G>T	ENST00000233146.2	+	7	1358	c.1135G>T	c.(1135-1137)Gat>Tat	p.D379Y	MSH2_ENST00000543555.1_Missense_Mutation_p.D313Y|MSH2_ENST00000406134.1_Missense_Mutation_p.D379Y	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	379					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.D379Y(1)|p.E378del(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTACAAGAAGATTTACTTCG	0.328			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.D379Y		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	6	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|endometrium(1)	c.G1135T	2						.						82.0	81.0	81.0					2																	47656939		2203	4300	6503	47510443	SO:0001583	missense	4436	exon7	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1135G>T	2.37:g.47656939G>T	ENSP00000233146:p.Asp379Tyr		47510443	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.598247	0.87055	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000422810;ENST00000413880	D;D;D	0.90504	-2.68;-2.68;-2.68	5.59	5.59	0.84812	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.77313	2.365	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.899	D;D;D	0.68621	0.959;0.959;0.918	D	0.95468	0.8549	10	0.87932	D	0	-13.467	19.5819	0.95471	0.0:0.0:1.0:0.0	.	313;379;379	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	Y	379;313;379;379;379;379;379;29;165	ENSP00000233146:D379Y;ENSP00000442697:D313Y;ENSP00000384199:D379Y	ENSP00000233146:D379Y	D	+	1	0	MSH2	47510443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.631000	0.89168	0.651000	0.88453	GAT		0.328	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH2	4436	broad.mit.edu	37	2	47657021	47657021	+	Missense_Mutation	SNP	G	G	A	rs146567853	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:47657021G>A	ENST00000233146.2	+	7	1440	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	MSH2_ENST00000543555.1_Missense_Mutation_p.R340Q|MSH2_ENST00000406134.1_Missense_Mutation_p.R406Q	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	406					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.R406Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GATTGTTACCGACTCTATCAG	0.363			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.R406Q		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	MSH2,large_intestine,NS,Substitution - Nonsense,+1	.	5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)	c.G1217A	2						.		GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	77.0	79.0		1217	4.6	1.0	2	dbSNP_134	79	0,8600		0,0,4300	no	missense	MSH2	NM_000251.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	406/935	47657021	1,13005	2203	4300	6503	47510525	SO:0001583	missense	4436	exon7	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1217G>A	2.37:g.47657021G>A	ENSP00000233146:p.Arg406Gln		47510525	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.05|18.05	3.537076|3.537076	0.65085|0.65085	2.27E-4|2.27E-4	0.0|0.0	ENSG00000095002|ENSG00000095002	ENST00000448533|ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	.|D;D;D	.|0.90324	.|-2.65;-2.65;-2.65	5.45|5.45	4.57|4.57	0.56435|0.56435	.|DNA mismatch repair protein MutS, core (3);	.|0.056207	.|0.64402	.|N	.|0.000001	D|D	0.89392|0.89392	0.6702|0.6702	M|M	0.81179|0.81179	2.53|2.53	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.32467	.|0.051;0.372;0.067	.|B;B;B	.|0.27608	.|0.026;0.043;0.081	D|D	0.88356|0.88356	0.2984|0.2984	6|10	0.66056|0.62326	D|D	0.02|0.03	-0.6071|-0.6071	11.2565|11.2565	0.49056|0.49056	0.1469:0.0:0.8531:0.0|0.1469:0.0:0.8531:0.0	.|.	.|340;406;406	.|B4E2Z2;E9PHA6;P43246	.|.;.;MSH2_HUMAN	N|Q	406|406;340;406;406;406;406;56;192	.|ENSP00000233146:R406Q;ENSP00000442697:R340Q;ENSP00000384199:R406Q	ENSP00000415023:D406N|ENSP00000233146:R406Q	D|R	+|+	1|2	0|0	MSH2|MSH2	47510525|47510525	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	5.919000|5.919000	0.70005|0.70005	1.317000|1.317000	0.45149|0.45149	0.651000|0.651000	0.88453|0.88453	GAC|CGA		0.363	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	broad.mit.edu	37	2	48026932	48026932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48026932G>T	ENST00000234420.5	+	4	1962	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E474*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E302*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	604					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.E604*(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTCTCAAAGGAAACTAAAAC	0.408			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E604X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G1810T	2						.						69.0	72.0	71.0					2																	48026932		2201	4299	6500	47880436	SO:0001587	stop_gained	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1810G>T	2.37:g.48026932G>T	ENSP00000234420:p.Glu604*		47880436	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	39	7.566572	0.98361	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.25	5.25	0.73442	.	0.210963	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-2.5414	18.8489	0.92218	0.0:0.0:1.0:0.0	.	.	.	.	X	604;602;474;302	.	ENSP00000234420:E604X	E	+	1	0	MSH6	47880436	1.000000	0.71417	0.323000	0.25347	0.021000	0.10359	9.794000	0.99096	2.468000	0.83385	0.585000	0.79938	GAA		0.408	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48027990	48027990	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48027990G>T	ENST00000234420.5	+	4	3020	c.2868G>T	c.(2866-2868)gaG>gaT	p.E956D	MSH6_ENST00000540021.1_Missense_Mutation_p.E826D|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E654D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	956					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.E956D(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATACCTAGAGAAACAGCGCA	0.448			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E956D		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.G2868T	2						.						44.0	45.0	45.0					2																	48027990		2203	4300	6503	47881494	SO:0001583	missense	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2868G>T	2.37:g.48027990G>T	ENSP00000234420:p.Glu956Asp		47881494	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	1.904	-0.452321	0.04540	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	3.74	0.42951	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.157767	0.56097	N	0.000039	T	0.68742	0.3034	N	0.03209	-0.39	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.006;0.004;0.001	T	0.55761	-0.8090	10	0.09084	T	0.74	-13.333	3.9452	0.09346	0.0764:0.2248:0.4523:0.2465	.	826;956;956	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	D	956;954;826;654	ENSP00000234420:E956D;ENSP00000446475:E826D;ENSP00000438580:E654D	ENSP00000234420:E956D	E	+	3	2	MSH6	47881494	0.826000	0.29277	1.000000	0.80357	0.993000	0.82548	-0.093000	0.11111	0.665000	0.31066	0.563000	0.77884	GAG		0.448	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
FOXN2	3344	broad.mit.edu	37	2	48589787	48589787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48589787C>A	ENST00000340553.3	+	5	905	c.644C>A	c.(643-645)tCt>tAt	p.S215Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	215					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S215Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TTCAGTGGTTCTTTATCACCT	0.383																																					p.S215Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C644A	2						.						120.0	112.0	115.0					2																	48589787		2203	4300	6503	48443291	SO:0001583	missense	3344	exon5				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.644C>A	2.37:g.48589787C>A	ENSP00000343633:p.Ser215Tyr		48443291	NM_002158	Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691290	0.48097	.	.	ENSG00000170802	ENST00000413569;ENST00000304367;ENST00000340553	D;D	0.95307	-3.67;-3.52	5.6	4.72	0.59763	.	0.192799	0.47455	D	0.000233	D	0.92469	0.7609	L	0.47190	1.495	0.28737	N	0.902163	P	0.37864	0.61	B	0.38106	0.265	D	0.88949	0.3385	10	0.87932	D	0	.	16.1356	0.81487	0.0:0.866:0.134:0.0	.	215	P32314	FOXN2_HUMAN	Y	215;124;215	ENSP00000388486:S215Y;ENSP00000343633:S215Y	ENSP00000305685:S124Y	S	+	2	0	FOXN2	48443291	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	4.704000	0.61831	1.352000	0.45808	0.650000	0.86243	TCT		0.383	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158	
PPP1R21	129285	broad.mit.edu	37	2	48692642	48692642	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48692642G>A	ENST00000294952.8	+	9	915	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	PPP1R21_ENST00000281394.4_Missense_Mutation_p.R253Q|PPP1R21_ENST00000449090.2_Missense_Mutation_p.R253Q	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	253						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.R253L(2)|p.R253Q(1)		endometrium(2)|kidney(4)|lung(9)	15						CTGAAGATGCGAGATATTGCT	0.358																																					p.R253Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G758A	2						.						100.0	99.0	99.0					2																	48692642		2203	4300	6503	48546146	SO:0001583	missense	129285	exon9			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.758G>A	2.37:g.48692642G>A	ENSP00000294952:p.Arg253Gln		48546146	NM_001135629	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389820	0.82902	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.24	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999	D;D;D;P;P	0.87578	0.998;0.992;0.997;0.806;0.896	T	0.69720	-0.5069	9	0.17832	T	0.49	-13.0447	15.1118	0.72362	0.0:0.0:0.8571:0.1429	.	253;253;253;253;253	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	Q	253	.	ENSP00000281394:R253Q	R	+	2	0	KLRAQ1	48546146	1.000000	0.71417	0.978000	0.43139	0.837000	0.47467	7.489000	0.81451	1.183000	0.42943	-0.188000	0.12872	CGA		0.358	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994	
STON1	11037	broad.mit.edu	37	2	48808528	48808528	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48808528T>C	ENST00000406226.1	+	3	951	c.756T>C	c.(754-756)tgT>tgC	p.C252C	STON1-GTF2A1L_ENST00000402114.2_Silent_p.C252C|STON1-GTF2A1L_ENST00000405008.1_Silent_p.C252C|STON1-GTF2A1L_ENST00000309827.2_Silent_p.C252C|STON1_ENST00000404752.1_Silent_p.C252C|STON1-GTF2A1L_ENST00000394751.3_Silent_p.C252C|STON1_ENST00000309835.3_Silent_p.C252C|STON1-GTF2A1L_ENST00000394754.1_Silent_p.C252C	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	252					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.C252C(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTATGCACTGTCTATGTGCTG	0.433																																					p.C252C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T756C	2						.						94.0	84.0	87.0					2																	48808528		2203	4300	6503	48662032	SO:0001819	synonymous_variant	286749	exon1			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.756T>C	2.37:g.48808528T>C			48662032	NM_001198594	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	CCDS1841.1																																																																																				0.433	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
STON1	11037	broad.mit.edu	37	2	48818859	48818859	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48818859T>C	ENST00000406226.1	+	4	2193	c.1998T>C	c.(1996-1998)gaT>gaC	p.D666D	STON1-GTF2A1L_ENST00000402114.2_Silent_p.D666D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D666D|STON1-GTF2A1L_ENST00000309827.2_Silent_p.D666D|STON1_ENST00000404752.1_Silent_p.D666D|STON1-GTF2A1L_ENST00000394751.3_Silent_p.D666D|STON1_ENST00000309835.3_Silent_p.D666D|STON1-GTF2A1L_ENST00000394754.1_Silent_p.D666D	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	666	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.D666D(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCTCTGATTGGTATCCAT	0.453																																					p.D666D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1998C	2						.						182.0	175.0	177.0					2																	48818859		2203	4300	6503	48672363	SO:0001819	synonymous_variant	286749	exon2			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1998T>C	2.37:g.48818859T>C			48672363	NM_001198594	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	CCDS1841.1																																																																																				0.453	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
GTF2A1L	11036	broad.mit.edu	37	2	48848080	48848080	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48848080G>T	ENST00000403751.3	+	2	149	c.112G>T	c.(112-114)Gac>Tac	p.D38Y	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D742Y|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D742Y|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D742Y|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D742Y|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D742Y	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	38					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.D742N(1)|p.D742Y(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTTAAAAGACTTGAAGCA	0.328																																					p.D38Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G112T	2						.						54.0	54.0	54.0					2																	48848080		2203	4298	6501	48701584	SO:0001583	missense	286749	exon2			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.112G>T	2.37:g.48848080G>T	ENSP00000384597:p.Asp38Tyr		48701584	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400046	0.62177	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000403751	T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46	4.7	4.7	0.59300	Transcription factor IIA, alpha subunit, N-terminal (1);Transcription factor IIA, helical (1);	0.129372	0.51477	D	0.000100	T	0.69522	0.3120	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.966;1.0;1.0;0.999	P;D;D;D	0.81914	0.641;0.989;0.995;0.969	T	0.72494	-0.4276	10	0.87932	D	0	.	12.6651	0.56837	0.0834:0.0:0.9166:0.0	.	742;742;38;742	A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	Y	742;742;742;742;742;37;38;38	ENSP00000385499:D742Y;ENSP00000385701:D742Y;ENSP00000378236:D742Y;ENSP00000311493:D742Y;ENSP00000378234:D742Y;ENSP00000396702:D38Y;ENSP00000384597:D38Y	ENSP00000384597:D38Y	D	+	1	0	STON1-GTF2A1L;GTF2A1L	48701584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.149000	0.71795	2.611000	0.88343	0.561000	0.74099	GAC		0.328	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
GTF2A1L	11036	broad.mit.edu	37	2	48873757	48873757	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48873757A>G	ENST00000403751.3	+	6	591	c.554A>G	c.(553-555)gAa>gGa	p.E185G	LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E889G|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E889G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E889G|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E151G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E842G|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E889G	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	185					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E889G(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCAACTACTGAAAAATCACAG	0.418																																					p.E185G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A554G	2						.						89.0	88.0	88.0					2																	48873757		2203	4300	6503	48727261	SO:0001583	missense	286749	exon6			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.554A>G	2.37:g.48873757A>G	ENSP00000384597:p.Glu185Gly		48727261	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907920	0.72868	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T	0.52526	2.83;2.82;2.83;2.83;3.02;1.03;0.66	5.29	4.11	0.48088	.	0.392324	0.23782	N	0.044614	T	0.66645	0.2810	M	0.78049	2.395	0.58432	D	0.999999	D;B;D;D;P	0.89917	1.0;0.437;0.967;0.999;0.626	D;B;P;D;B	0.85130	0.997;0.115;0.69;0.979;0.34	T	0.68435	-0.5409	10	0.72032	D	0.01	.	10.0412	0.42160	0.8306:0.1693:0.0:0.0	.	151;842;889;185;889	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	G	889;889;889;889;842;184;151;194;151;185	ENSP00000385499:E889G;ENSP00000385701:E889G;ENSP00000378236:E889G;ENSP00000311493:E889G;ENSP00000378234:E842G;ENSP00000412645:E151G;ENSP00000396702:E194G	ENSP00000384597:E185G	E	+	2	0	STON1-GTF2A1L;GTF2A1L	48727261	1.000000	0.71417	0.125000	0.21846	0.975000	0.68041	3.528000	0.53524	0.987000	0.38709	0.482000	0.46254	GAA		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
GTF2A1L	11036	broad.mit.edu	37	2	48897095	48897095	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:48897095G>T	ENST00000403751.3	+	7	1250	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y	LHCGR_ENST00000420913.3_5'Flank|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1109Y|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1109Y|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1109Y|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D371Y|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1062Y|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D1109Y	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	405					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.D1109Y(2)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATAATGAAGACCCTCAAGT	0.373																																					p.D405Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G1213T	2						.						74.0	78.0	77.0					2																	48897095		2203	4300	6503	48750599	SO:0001583	missense	286749	exon7			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1213G>T	2.37:g.48897095G>T	ENSP00000384597:p.Asp405Tyr		48750599	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450396	0.43531	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T	0.13196	2.61;2.62;2.61;2.61;2.77	5.5	5.5	0.81552	.	0.194584	0.44097	D	0.000489	T	0.42494	0.1205	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.998;0.999;0.984;0.996	D;P;D;D;D	0.71184	0.911;0.888;0.966;0.914;0.972	T	0.41413	-0.9510	10	0.87932	D	0	.	17.9581	0.89075	0.0:0.0:1.0:0.0	.	371;1062;1109;405;1109	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	Y	1109;1109;1109;1109;1062;404;371;405;54	ENSP00000385499:D1109Y;ENSP00000385701:D1109Y;ENSP00000378236:D1109Y;ENSP00000311493:D1109Y;ENSP00000378234:D1062Y	ENSP00000384597:D405Y	D	+	1	0	STON1-GTF2A1L;GTF2A1L	48750599	1.000000	0.71417	0.988000	0.46212	0.130000	0.20726	7.046000	0.76592	2.584000	0.87258	0.561000	0.74099	GAC		0.373	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
FSHR	2492	broad.mit.edu	37	2	49191105	49191105	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:49191105G>A	ENST00000406846.2	-	10	974	c.855C>T	c.(853-855)atC>atT	p.I285I	FSHR_ENST00000541117.1_Splice_Site_p.I21I|FSHR_ENST00000304421.4_Splice_Site_p.I259I|FSHR_ENST00000346173.3_Splice_Site_p.L223L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	285					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.I285I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GAAGCTCAGAGCTAGAAAAAT	0.378									Gonadal Dysgenesis, 46 XX																												p.I259I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777T	2						.						72.0	71.0	71.0					2																	49191105		2202	4300	6502	49044609	SO:0001630	splice_region_variant	2492	exon9	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.855-1C>T	2.37:g.49191105G>A			49044609	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	CCDS1843.1																																																																																				0.378	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		Silent
NRXN1	9378	broad.mit.edu	37	2	50779858	50779858	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:50779858A>G	ENST00000406316.2	-	9	3102	c.1626T>C	c.(1624-1626)gcT>gcC	p.A542A	NRXN1_ENST00000401669.2_Silent_p.A542A|NRXN1_ENST00000405472.3_Silent_p.A534A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.A542A|NRXN1_ENST00000402717.3_Silent_p.A534A|NRXN1_ENST00000404971.1_Silent_p.A582A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	542	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A542A(1)|p.A583A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCATCTCAATAGCAAAGAAGT	0.448																																					p.A582A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1746C	2						.						170.0	156.0	161.0					2																	50779858		1913	4119	6032	50633362	SO:0001819	synonymous_variant	9378	exon10			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1626T>C	2.37:g.50779858A>G			50633362	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	CCDS54360.1																																																																																				0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
GPR75-ASB3	100302652	broad.mit.edu	37	2	53941710	53941710	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:53941710T>G	ENST00000263634.3	-	7	925	c.791A>C	c.(790-792)gAc>gCc	p.D264A	ASB3_ENST00000406625.2_Missense_Mutation_p.D299A|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.D191A|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.D302A|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.D191A|ASB3_ENST00000498475.2_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.D264A(1)									TATTAACAAGTCCAAGATTCT	0.373																																					p.D264A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A791C	2						.						86.0	84.0	84.0					2																	53941710		2203	4300	6503	53795214	SO:0001583	missense	51130	exon7				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.791A>C	2.37:g.53941710T>G	ENSP00000263634:p.Asp264Ala		53795214	NM_016115		Missense_Mutation	SNP	ENST00000263634.3	37	CCDS1846.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378046	0.42105	.	.	ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.02	6.02	0.97574	Ankyrin repeat-containing domain (4);	0.372798	0.33591	N	0.004757	T	0.62539	0.2436	L	0.39245	1.2	0.30502	N	0.770254	P;B;B	0.38395	0.629;0.126;0.075	B;B;B	0.44315	0.446;0.08;0.055	T	0.68918	-0.5282	9	0.51188	T	0.08	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	181;299;264	B4DZX6;Q2TAI4;Q9Y575	.;.;ASB3_HUMAN	A	264;299;191;191;302;181	ENSP00000263634:D264A;ENSP00000385085:D299A;ENSP00000384728:D191A;ENSP00000378206:D191A;ENSP00000313756:D302A	ENSP00000263634:D264A	D	-	2	0	ASB3	53795214	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.582000	0.36568	2.311000	0.77944	0.533000	0.62120	GAC		0.373	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3		
ERLEC1	27248	broad.mit.edu	37	2	54045093	54045093	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54045093C>A	ENST00000185150.4	+	14	1570	c.1439C>A	c.(1438-1440)tCt>tAt	p.S480Y	ERLEC1_ENST00000405123.3_Missense_Mutation_p.S454Y|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S426Y	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	480					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.S480Y(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GGACTTCTTTCTCTCCCCAAC	0.358																																					p.S480Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1439A	2						.						109.0	111.0	110.0					2																	54045093		2203	4298	6501	53898597	SO:0001583	missense	27248	exon14			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1439C>A	2.37:g.54045093C>A	ENSP00000185150:p.Ser480Tyr		53898597	NM_015701	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766167	0.49574	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.48201	0.86;0.82	5.99	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	.	.	.	0.30477	N	0.772752	P;P;P	0.40794	0.651;0.686;0.729	B;B;B	0.42555	0.391;0.234;0.386	T	0.53514	-0.8428	9	0.72032	D	0.01	-7.3783	11.5161	0.50522	0.0:0.8611:0.0:0.1389	.	426;454;480	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	Y	454;480;426	ENSP00000385629:S454Y;ENSP00000185150:S480Y	ENSP00000185150:S480Y	S	+	2	0	ERLEC1	53898597	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.395000	0.66291	0.875000	0.35847	-0.140000	0.14226	TCT		0.358	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701	
PSME4	23198	broad.mit.edu	37	2	54114518	54114518	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54114518C>T	ENST00000404125.1	-	40	4662	c.4607G>A	c.(4606-4608)cGa>cAa	p.R1536Q	PSME4_ENST00000421748.2_Missense_Mutation_p.R680Q|PSME4_ENST00000476586.1_5'Flank	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1536					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.R1422Q(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CTCCAGAATTCGAGCAGTAAA	0.393																																					p.R1536Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4607A	2						.						125.0	115.0	118.0					2																	54114518		2203	4300	6503	53968022	SO:0001583	missense	23198	exon40			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4607G>A	2.37:g.54114518C>T	ENSP00000384211:p.Arg1536Gln		53968022	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737910	0.89573	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64803	-0.12;-0.12	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	L	0.57536	1.79	0.80722	D	1	P;D;D;D	0.62365	0.868;0.991;0.991;0.987	B;P;P;B	0.51229	0.294;0.663;0.663;0.351	T	0.61946	-0.6958	10	0.13108	T	0.6	-3.9897	19.3798	0.94527	0.0:1.0:0.0:0.0	.	911;680;680;1536	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	Q	680;1536	ENSP00000410830:R680Q;ENSP00000384211:R1536Q	ENSP00000384211:R1536Q	R	-	2	0	PSME4	53968022	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.715000	0.84713	2.644000	0.89710	0.655000	0.94253	CGA		0.393	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PSME4	23198	broad.mit.edu	37	2	54120830	54120830	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54120830C>T	ENST00000404125.1	-	35	4074	c.4019G>A	c.(4018-4020)cGa>cAa	p.R1340Q	PSME4_ENST00000421748.2_Missense_Mutation_p.R484Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1340					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.R1226Q(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAAAAACGTCGTGGATTAAA	0.279																																					p.R1340Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4019A	2						.						75.0	84.0	81.0					2																	54120830		2202	4297	6499	53974334	SO:0001583	missense	23198	exon35			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4019G>A	2.37:g.54120830C>T	ENSP00000384211:p.Arg1340Gln		53974334	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	33	5.247654	0.95305	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.22336	1.96;1.96	5.56	5.56	0.83823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.978	P;P;B	0.61940	0.634;0.896;0.351	T	0.07966	-1.0745	10	0.12103	T	0.63	.	19.5336	0.95240	0.0:1.0:0.0:0.0	.	715;484;1340	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	Q	484;1340	ENSP00000410830:R484Q;ENSP00000384211:R1340Q	ENSP00000384211:R1340Q	R	-	2	0	PSME4	53974334	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.861000	0.69553	2.637000	0.89404	0.455000	0.32223	CGA		0.279	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PSME4	23198	broad.mit.edu	37	2	54127071	54127071	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54127071T>G	ENST00000404125.1	-	29	3424	c.3369A>C	c.(3367-3369)gaA>gaC	p.E1123D	PSME4_ENST00000421748.2_Missense_Mutation_p.E267D	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1123					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.E1009D(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTTAATTTTTTCTGGGCTAA	0.343																																					p.E1123D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3369C	2						.						186.0	188.0	187.0					2																	54127071		2203	4300	6503	53980575	SO:0001583	missense	23198	exon29			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3369A>C	2.37:g.54127071T>G	ENSP00000384211:p.Glu1123Asp		53980575	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096786	0.56075	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.26067	1.78;1.76	5.63	-1.02	0.10135	Armadillo-type fold (1);	0.049718	0.85682	D	0.000000	T	0.16896	0.0406	L	0.55481	1.735	0.41164	D	0.986114	B;B;B	0.18310	0.027;0.026;0.004	B;B;B	0.16289	0.009;0.015;0.004	T	0.06862	-1.0803	10	0.29301	T	0.29	.	2.6651	0.05041	0.1105:0.1823:0.1141:0.5931	.	498;267;1123	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	D	267;1123	ENSP00000410830:E267D;ENSP00000384211:E1123D	ENSP00000384211:E1123D	E	-	3	2	PSME4	53980575	0.994000	0.37717	0.986000	0.45419	0.964000	0.63967	0.071000	0.14594	0.054000	0.16065	0.533000	0.62120	GAA		0.343	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PSME4	23198	broad.mit.edu	37	2	54131204	54131204	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54131204G>T	ENST00000404125.1	-	27	3088	c.3033C>A	c.(3031-3033)ttC>ttA	p.F1011L	PSME4_ENST00000421748.2_Missense_Mutation_p.F155L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1011					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.F897L(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGGCCTTAAGAACTCCAAAA	0.378																																					p.F1011L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3033A	2						.						115.0	117.0	116.0					2																	54131204		2203	4300	6503	53984708	SO:0001583	missense	23198	exon27			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3033C>A	2.37:g.54131204G>T	ENSP00000384211:p.Phe1011Leu		53984708	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119056	0.20877	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.60424	0.19;0.19	5.7	1.91	0.25777	Armadillo-like helical (1);Armadillo-type fold (1);	0.051026	0.85682	D	0.000000	T	0.28896	0.0717	N	0.04203	-0.255	0.54753	D	0.999984	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.06499	-1.0823	10	0.11182	T	0.66	.	10.1985	0.43069	0.322:0.0:0.678:0.0	.	386;155;1011	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	L	155;1011	ENSP00000410830:F155L;ENSP00000384211:F1011L	ENSP00000384211:F1011L	F	-	3	2	PSME4	53984708	0.990000	0.36364	0.999000	0.59377	0.993000	0.82548	0.190000	0.17057	0.766000	0.33244	-0.136000	0.14681	TTC		0.378	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
PSME4	23198	broad.mit.edu	37	2	54135500	54135500	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54135500C>T	ENST00000404125.1	-	24	2796	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	PSME4_ENST00000421748.2_Missense_Mutation_p.R58Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	914					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.R800Q(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTTTTCCATCGGGAGTCAAA	0.338																																					p.R914Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2741A	2						.						57.0	57.0	57.0					2																	54135500		2203	4298	6501	53989004	SO:0001583	missense	23198	exon24			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2741G>A	2.37:g.54135500C>T	ENSP00000384211:p.Arg914Gln		53989004	NM_014614	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070342	0.76301	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.13657	2.57;2.57	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.45352	1.415	0.80722	D	1	D;D;P	0.89917	0.96;1.0;0.868	P;D;B	0.72338	0.527;0.977;0.143	T	0.02654	-1.1128	10	0.11182	T	0.66	.	19.0819	0.93186	0.0:1.0:0.0:0.0	.	289;58;914	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	Q	58;914	ENSP00000410830:R58Q;ENSP00000384211:R914Q	ENSP00000384211:R914Q	R	-	2	0	PSME4	53989004	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.818000	0.86416	2.486000	0.83907	0.655000	0.94253	CGA		0.338	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
SPTBN1	6711	broad.mit.edu	37	2	54873343	54873343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:54873343G>T	ENST00000356805.4	+	23	4878	c.4597G>T	c.(4597-4599)Gaa>Taa	p.E1533*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E1520*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1533					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.E1533*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCTCCAGAAAGAAATCCAGGG	0.527																																					p.E1533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4597T	2						.						100.0	110.0	107.0					2																	54873343		2203	4300	6503	54726847	SO:0001587	stop_gained	6711	exon23				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4597G>T	2.37:g.54873343G>T	ENSP00000349259:p.Glu1533*		54726847	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	48	14.058704	0.99777	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	1533;1520	.	ENSP00000334156:E1520X	E	+	1	0	SPTBN1	54726847	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	9.769000	0.98969	2.868000	0.98415	0.555000	0.69702	GAA		0.527	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
RTN4	57142	broad.mit.edu	37	2	55252757	55252757	+	Missense_Mutation	SNP	C	C	A	rs151330533		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55252757C>A	ENST00000337526.6	-	3	2721	c.2478G>T	c.(2476-2478)gaG>gaT	p.E826D	RTN4_ENST00000405240.1_Missense_Mutation_p.E620D|RTN4_ENST00000404909.1_Missense_Mutation_p.E620D|RTN4_ENST00000354474.6_Missense_Mutation_p.E594D|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.E620D|RTN4_ENST00000394611.2_Missense_Mutation_p.E620D|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	826					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E620D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAGGAATTTTCTCCTTTTTGC	0.358																																					p.E826D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2478T	2						.						81.0	82.0	82.0					2																	55252757		2203	4300	6503	55106261	SO:0001583	missense	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2478G>T	2.37:g.55252757C>A	ENSP00000337838:p.Glu826Asp		55106261	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191805	0.21954	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.24908	1.84;1.84;1.83;1.84;1.84;1.89	5.45	3.56	0.40772	.	0.231244	0.44483	D	0.000458	T	0.18923	0.0454	L	0.56769	1.78	0.29050	N	0.884554	P	0.37636	0.603	B	0.28385	0.089	T	0.16778	-1.0391	10	0.42905	T	0.14	-5.5058	5.8923	0.18919	0.1381:0.632:0.0:0.2299	.	826	Q9NQC3	RTN4_HUMAN	D	620;620;826;620;620;594	ENSP00000384471:E620D;ENSP00000349944:E620D;ENSP00000337838:E826D;ENSP00000378109:E620D;ENSP00000385650:E620D;ENSP00000346465:E594D	ENSP00000337838:E826D	E	-	3	2	RTN4	55106261	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.675000	0.25232	1.184000	0.42957	-0.345000	0.07892	GAG		0.358	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
RTN4	57142	broad.mit.edu	37	2	55252835	55252835	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55252835C>A	ENST00000337526.6	-	3	2643	c.2400G>T	c.(2398-2400)ttG>ttT	p.L800F	RTN4_ENST00000405240.1_Missense_Mutation_p.L594F|RTN4_ENST00000404909.1_Missense_Mutation_p.L594F|RTN4_ENST00000354474.6_Missense_Mutation_p.L568F|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.L594F|RTN4_ENST00000394611.2_Missense_Mutation_p.L594F|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	800					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.L594F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TAAAAGATTCCAAATATGGCT	0.368																																					p.L800F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2400T	2						.						88.0	88.0	88.0					2																	55252835		2203	4300	6503	55106339	SO:0001583	missense	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2400G>T	2.37:g.55252835C>A	ENSP00000337838:p.Leu800Phe		55106339	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434727	0.43224	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.30981	1.53;1.53;1.51;1.53;1.53;1.6	5.45	3.44	0.39384	.	0.000000	0.50627	D	0.000103	T	0.50480	0.1618	M	0.71581	2.175	0.40254	D	0.978109	D	0.76494	0.999	D	0.85130	0.997	T	0.49995	-0.8879	10	0.72032	D	0.01	-7.478	8.6826	0.34218	0.0:0.7456:0.0:0.2544	.	800	Q9NQC3	RTN4_HUMAN	F	594;594;800;594;594;568	ENSP00000384471:L594F;ENSP00000349944:L594F;ENSP00000337838:L800F;ENSP00000378109:L594F;ENSP00000385650:L594F;ENSP00000346465:L568F	ENSP00000337838:L800F	L	-	3	2	RTN4	55106339	0.993000	0.37304	1.000000	0.80357	0.960000	0.62799	0.128000	0.15810	0.509000	0.28195	0.655000	0.94253	TTG		0.368	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
RTN4	57142	broad.mit.edu	37	2	55254501	55254501	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55254501G>T	ENST00000337526.6	-	3	977	c.734C>A	c.(733-735)tCt>tAt	p.S245Y	RTN4_ENST00000405240.1_Missense_Mutation_p.S39Y|RTN4_ENST00000404909.1_Missense_Mutation_p.S39Y|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S39Y|RTN4_ENST00000394611.2_Missense_Mutation_p.S39Y|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	245					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.S39Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTCTTTGAAAGAAGCGGCTGA	0.443																																					p.S245Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C734A	2						.						71.0	73.0	72.0					2																	55254501		2203	4300	6503	55108005	SO:0001583	missense	57142	exon3			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.734C>A	2.37:g.55254501G>T	ENSP00000337838:p.Ser245Tyr		55108005	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826625	0.71143	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	T;T;T;T;T	0.23754	1.89;1.89;2.25;1.89;1.89	6.02	6.02	0.97574	.	0.615249	0.16136	N	0.227948	T	0.39306	0.1073	L	0.59436	1.845	0.80722	D	1	D	0.56521	0.976	P	0.47744	0.556	T	0.18903	-1.0322	10	0.72032	D	0.01	-1.7326	20.547	0.99278	0.0:0.0:1.0:0.0	.	245	Q9NQC3	RTN4_HUMAN	Y	39;39;245;39;39;39	ENSP00000384471:S39Y;ENSP00000349944:S39Y;ENSP00000337838:S245Y;ENSP00000378109:S39Y;ENSP00000385650:S39Y	ENSP00000337838:S245Y	S	-	2	0	RTN4	55108005	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.778000	0.75043	2.850000	0.98022	0.650000	0.86243	TCT		0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
CLHC1	130162	broad.mit.edu	37	2	55444966	55444966	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55444966T>C	ENST00000401408.1	-	4	691	c.346A>G	c.(346-348)Aca>Gca	p.T116A	CLHC1_ENST00000407122.1_Missense_Mutation_p.T116A|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000494539.1_Intron|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000406076.1_5'UTR	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	116								p.T116A(2)									AGTTGGATTGTTCTTTTCCTG	0.368																																					p.T116A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A346G	2						.						110.0	103.0	105.0					2																	55444966		2203	4299	6502	55298470	SO:0001583	missense	130162	exon4				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.346A>G	2.37:g.55444966T>C	ENSP00000384869:p.Thr116Ala		55298470	NM_152385	B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	ENST00000401408.1	37	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	T	0.929	-0.713221	0.03206	.	.	ENSG00000162994	ENST00000407122;ENST00000401408	T;T	0.14640	2.49;2.49	5.96	2.21	0.28008	.	0.987148	0.08251	N	0.974541	T	0.07863	0.0197	N	0.20766	0.605	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.29701	-1.0003	10	0.02654	T	1	-0.018	8.81	0.34961	0.0:0.3399:0.0:0.6601	.	116	Q8NHS4	CB063_HUMAN	A	116	ENSP00000385778:T116A;ENSP00000384869:T116A	ENSP00000384869:T116A	T	-	1	0	C2orf63	55298470	0.095000	0.21747	0.279000	0.24732	0.953000	0.61014	0.215000	0.17562	0.475000	0.27415	0.533000	0.62120	ACA		0.368	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385	
CCDC88A	55704	broad.mit.edu	37	2	55536322	55536322	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55536322A>C	ENST00000436346.1	-	24	4989	c.4148T>G	c.(4147-4149)tTt>tGt	p.F1383C	AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.F1382C|CCDC88A_ENST00000263630.8_Missense_Mutation_p.F1383C|CCDC88A_ENST00000413716.2_Missense_Mutation_p.F1382C|CCDC88A_ENST00000422883.2_Missense_Mutation_p.F6C	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1383					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.F1383C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGGTCATAAAATTTGTATTG	0.289																																					p.F1382C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4145G	2						.						46.0	47.0	47.0					2																	55536322		2197	4284	6481	55389826	SO:0001583	missense	55704	exon24			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4148T>G	2.37:g.55536322A>C	ENSP00000410608:p.Phe1383Cys		55389826	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.9|21.9|21.9	4.218355|4.218355|4.218355	0.79464|0.79464|0.79464	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458|ENST00000456975	T;T;T;T;T;T|.|.	0.58652|.|.	0.32;0.32;0.32;0.32;0.32;0.32|.|.	5.84|5.84|5.84	5.84|5.84|5.84	0.93424|0.93424|0.93424	.|.|.	0.000000|0.000000|.	0.49916|0.49916|.	U|U|.	0.000140|0.000140|.	T|T|T	0.72859|0.72859|0.72859	0.3513|0.3513|0.3513	M|M|M	0.65498|0.65498|0.65498	2.005|2.005|2.005	0.37516|0.37516|0.37516	D|D|D	0.917333|0.917333|0.917333	P;D;D;D;D;P;D|.|.	0.89917|.|.	0.884;1.0;1.0;1.0;1.0;0.849;1.0|.|.	P;D;D;D;D;P;D|.|.	0.91635|.|.	0.465;0.998;0.974;0.999;0.984;0.523;0.984|.|.	T|T|T	0.75611|0.75611|0.75611	-0.3258|-0.3258|-0.3258	10|7|5	0.66056|0.87932|.	D|D|.	0.02|0|.	-17.7153|-17.7153|-17.7153	16.2055|16.2055|16.2055	0.82126|0.82126|0.82126	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	1382;1383;1328;6;1383;1382;1382|.|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;.;GRDN_HUMAN;.;.|.|.	C|V|M	1382;1383;1383;6;428;1382;558|8|363	ENSP00000338728:F1382C;ENSP00000263630:F1383C;ENSP00000410608:F1383C;ENSP00000390012:F428C;ENSP00000404431:F1382C;ENSP00000405080:F558C|.|.	ENSP00000263630:F1383C|ENSP00000413401:F8V|.	F|F|I	-|-|-	2|1|3	0|0|3	CCDC88A|CCDC88A|CCDC88A	55389826|55389826|55389826	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	9.210000|9.210000|9.210000	0.95106|0.95106|0.95106	2.226000|2.226000|2.226000	0.72624|0.72624|0.72624	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	TTT|TTT|ATT		0.289	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CCDC88A	55704	broad.mit.edu	37	2	55544773	55544773	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55544773G>T	ENST00000436346.1	-	20	4370	c.3529C>A	c.(3529-3531)Ctt>Att	p.L1177I	AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1176I|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1177I|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1176I|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1177					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.L1177I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTAGAGATAAGAGATTCATAC	0.378																																					p.L1176I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3526A	2						.						68.0	72.0	71.0					2																	55544773		2203	4300	6503	55398277	SO:0001583	missense	55704	exon20			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3529C>A	2.37:g.55544773G>T	ENSP00000410608:p.Leu1177Ile		55398277	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.135981|5.135981	0.94517|0.94517	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	T;T;T;T;T;T|.	0.64991|.	1.4;1.63;1.65;-0.13;1.43;0.52|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.41938|.	U|.	0.000792|.	D|D	0.83339|0.83339	0.5233|0.5233	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;0.999;0.999;0.998;1.0;0.999|.	D;D;D;D;D;D|.	0.87578|.	0.947;0.993;0.996;0.947;0.998;0.997|.	D|D	0.83994|0.83994	0.0339|0.0339	10|6	0.62326|0.59425	D|D	0.03|0.04	-4.8031|-4.8031	20.3172|20.3172	0.98658|0.98658	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1176;1177;1122;1177;1176;1176|.	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.;.;.;GRDN_HUMAN;.;.|.	I|Y	1176;1177;1177;222;1176;352|157	ENSP00000338728:L1176I;ENSP00000263630:L1177I;ENSP00000410608:L1177I;ENSP00000390012:L222I;ENSP00000404431:L1176I;ENSP00000405080:L352I|.	ENSP00000263630:L1177I|ENSP00000415267:S157Y	L|S	-|-	1|2	0|0	CCDC88A|CCDC88A	55398277|55398277	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.578000|9.578000	0.98200|0.98200	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	CTT|TCT		0.378	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CFAP36	112942	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55756108G>A	ENST00000349456.4	+	4	525	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	CCDC104_ENST00000406691.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000403007.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000407816.3_Missense_Mutation_p.R126Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.R151Q			Q96G28	CFA36_HUMAN		126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333																																					p.R126Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	2						.						55.0	55.0	55.0					2																	55756108		2203	4300	6503	55609612	SO:0001583	missense	112942	exon4																														ENST00000349456.4:c.377G>A	2.37:g.55756108G>A	ENSP00000295117:p.Arg126Gln		55609612	NM_080667	Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829275	0.71258	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.30714	2.22;1.52;2.24;2.29;1.52	6.17	5.3	0.74995	.	0.058328	0.64402	D	0.000002	T	0.28034	0.0691	L	0.34521	1.04	0.48236	D	0.999614	P;D	0.58620	0.874;0.983	B;B	0.44315	0.117;0.446	T	0.02070	-1.1219	10	0.33141	T	0.24	.	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	126;151	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	151;126;126;126;126	ENSP00000342699:R151Q;ENSP00000385400:R126Q;ENSP00000295117:R126Q;ENSP00000385376:R126Q;ENSP00000385972:R126Q	ENSP00000342699:R151Q	R	+	2	0	CCDC104	55609612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	1.620000	0.50308	0.655000	0.94253	CGA		0.333	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2		
SMEK2	57223	broad.mit.edu	37	2	55844384	55844384	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55844384A>G	ENST00000345102.5	-	1	339	c.38T>C	c.(37-39)cTg>cCg	p.L13P	SMEK2_ENST00000272313.5_Missense_Mutation_p.L13P|SMEK2_ENST00000407823.3_Missense_Mutation_p.L13P|SMEK2_ENST00000477749.1_5'UTR|RP11-554J4.1_ENST00000608113.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	13	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L13P(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCTTCGTTCAGGGTATAGAC	0.647																																					p.L13P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38C	2						.						74.0	62.0	66.0					2																	55844384		2203	4300	6503	55697888	SO:0001583	missense	57223	exon1			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.38T>C	2.37:g.55844384A>G	ENSP00000339769:p.Leu13Pro		55697888	NM_001122964	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980761	0.92982	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.45276	0.9;0.9;0.9	5.06	5.06	0.68205	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.967;0.976	T	0.82230	-0.0560	10	0.87932	D	0	-3.4817	14.9772	0.71283	1.0:0.0:0.0:0.0	.	13;13;13	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	P	13	ENSP00000272313:L13P;ENSP00000385912:L13P;ENSP00000339769:L13P	ENSP00000272313:L13P	L	-	2	0	SMEK2	55697888	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	8.761000	0.91691	2.130000	0.65690	0.459000	0.35465	CTG		0.647	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	
PNPT1	87178	broad.mit.edu	37	2	55872499	55872499	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55872499T>G	ENST00000447944.2	-	22	1893	c.1807A>C	c.(1807-1809)Aat>Cat	p.N603H		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	603					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.N603H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAGGTCCATTTTCTTTTCTA	0.418																																					p.N603H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1807C	2						.						100.0	95.0	97.0					2																	55872499		2203	4300	6503	55726003	SO:0001583	missense	87178	exon22			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1807A>C	2.37:g.55872499T>G	ENSP00000400646:p.Asn603His		55726003	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957743	0.73902	.	.	ENSG00000138035	ENST00000447944	T	0.63096	-0.02	5.66	5.66	0.87406	.	0.047736	0.85682	D	0.000000	T	0.59742	0.2216	N	0.25890	0.77	0.46416	D	0.999035	P	0.40376	0.715	P	0.48921	0.595	T	0.56390	-0.7987	10	0.25106	T	0.35	-8.7895	15.8851	0.79241	0.0:0.0:0.0:1.0	.	603	Q8TCS8	PNPT1_HUMAN	H	603	ENSP00000400646:N603H	ENSP00000393953:N603H	N	-	1	0	PNPT1	55726003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.156000	0.67533	0.528000	0.53228	AAT		0.418	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
PNPT1	87178	broad.mit.edu	37	2	55900192	55900192	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55900192C>A	ENST00000447944.2	-	9	788	c.702G>T	c.(700-702)gaG>gaT	p.E234D		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	234					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.E234D(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTAAAATGTTCTCTGCAGAGG	0.358																																					p.E234D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G702T	2						.						74.0	81.0	78.0					2																	55900192		2203	4300	6503	55753696	SO:0001583	missense	87178	exon9			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.702G>T	2.37:g.55900192C>A	ENSP00000400646:p.Glu234Asp		55753696	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839107	0.32513	.	.	ENSG00000138035	ENST00000447944	T	0.41065	1.01	5.67	-1.66	0.08265	Exoribonuclease, phosphorolytic domain 2 (2);	0.054221	0.64402	N	0.000001	T	0.15825	0.0381	N	0.05078	-0.115	0.44603	D	0.99757	B	0.12630	0.006	B	0.16289	0.015	T	0.15150	-1.0447	10	0.11485	T	0.65	-6.712	8.0781	0.30729	0.0:0.3492:0.1105:0.5403	.	234	Q8TCS8	PNPT1_HUMAN	D	234	ENSP00000400646:E234D	ENSP00000386075:E234D	E	-	3	2	PNPT1	55753696	0.905000	0.30787	0.992000	0.48379	0.997000	0.91878	0.037000	0.13840	-0.263000	0.09378	0.655000	0.94253	GAG		0.358	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
PNPT1	87178	broad.mit.edu	37	2	55906867	55906867	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:55906867G>T	ENST00000447944.2	-	8	715	c.629C>A	c.(628-630)tCt>tAt	p.S210Y		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	210					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.S210Y(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTACTAGAAGACATTTCTTT	0.323																																					p.S210Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629A	2						.						118.0	119.0	118.0					2																	55906867		2201	4299	6500	55760371	SO:0001583	missense	87178	exon8			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.629C>A	2.37:g.55906867G>T	ENSP00000400646:p.Ser210Tyr		55760371	NM_033109	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915653	0.73098	.	.	ENSG00000138035	ENST00000447944	T	0.50277	0.75	5.0	5.0	0.66597	Exoribonuclease, phosphorolytic domain 2 (2);	0.341607	0.31167	N	0.008137	T	0.58949	0.2158	M	0.62088	1.915	0.49798	D	0.999821	P	0.36660	0.564	P	0.46419	0.516	T	0.63382	-0.6650	10	0.87932	D	0	-11.5326	18.3432	0.90313	0.0:0.0:1.0:0.0	.	210	Q8TCS8	PNPT1_HUMAN	Y	210	ENSP00000400646:S210Y	ENSP00000386075:S210Y	S	-	2	0	PNPT1	55760371	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	4.827000	0.62723	2.517000	0.84864	0.549000	0.68633	TCT		0.323	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	
VRK2	7444	broad.mit.edu	37	2	58312046	58312046	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:58312046G>T	ENST00000435505.2	+	7	962	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	VRK2_ENST00000417641.2_Nonsense_Mutation_p.E73*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.E50*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.E73*|VRK2_ENST00000340157.4_Nonsense_Mutation_p.E73*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E73Q(1)|p.E73*(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GTTATTTTCAGAACTTAAATT	0.279																																					p.E73X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G217T	2						.						19.0	20.0	19.0					2																	58312046		2181	4269	6450	58165550	SO:0001587	stop_gained	7444	exon4			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.217G>T	2.37:g.58312046G>T	ENSP00000408002:p.Glu73*		58165550	NM_001130483	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	g	34	5.343043	0.95783	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705;ENST00000428021	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.6085	18.95	0.92638	0.0:0.0:1.0:0.0	.	.	.	.	X	73;73;73;73;73;73;50;78	.	ENSP00000342381:E73X	E	+	1	0	VRK2	58165550	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.952000	0.87827	2.775000	0.95449	0.586000	0.80456	GAA		0.279	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
FANCL	55120	broad.mit.edu	37	2	58388666	58388666	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:58388666G>A	ENST00000233741.4	-	12	1047	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FANCL_ENST00000402135.3_Silent_p.C342C|FANCL_ENST00000403676.1_Silent_p.C220C|FANCL_ENST00000403295.3_Silent_p.C309C	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	337					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C337C(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CCTCATATAAGCATATTTGAT	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.C337C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	2						.						81.0	86.0	84.0					2																	58388666		2202	4298	6500	58242170	SO:0001819	synonymous_variant	55120	exon12	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.1011C>T	2.37:g.58388666G>A			58242170	NM_018062	Q6GU60	Silent	SNP	ENST00000233741.4	37	CCDS1860.1																																																																																				0.333	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062	
BCL11A	53335	broad.mit.edu	37	2	60679729	60679729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:60679729G>A	ENST00000359629.5	-	5	999	c.703C>T	c.(703-705)Cga>Tga	p.R235*	BCL11A_ENST00000537768.1_Missense_Mutation_p.S437L|BCL11A_ENST00000356842.4_Missense_Mutation_p.S768L|BCL11A_ENST00000538214.1_Nonsense_Mutation_p.R785*	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.S768L(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AAGGGCTCTCGAGCTTCCATC	0.557			T	IGH@	B-CLL																																p.R235X			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703T	2						.						87.0	93.0	91.0					2																	60679729		2203	4300	6503	60533233	SO:0001587	stop_gained	53335	exon5			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000359629.5:c.703C>T	2.37:g.60679729G>A	ENSP00000352648:p.Arg235*		60533233	NM_138559	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Nonsense_Mutation	SNP	ENST00000359629.5	37	CCDS46295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.299358|6.299358	0.97453|0.97453	.|.	.|.	ENSG00000119866|ENSG00000119866	ENST00000359629;ENST00000538214|ENST00000356842;ENST00000378117;ENST00000537768	.|T;T	.|0.08370	.|3.1;3.23	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09862	.|0.0242	.|.	.|.	.|.	0.31928|0.31928	N|N	0.612505|0.612505	.|B;B	.|0.28208	.|0.08;0.203	.|B;B	.|0.15052	.|0.012;0.012	.|T	.|0.03278	.|-1.1053	.|8	0.07325|0.87932	T|D	0.83|0	.|.	18.5018|18.5018	0.90884|0.90884	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|437;768	.|B4DT16;D9YZV9	.|.;.	X|L	235;785|768;793;437	.|ENSP00000349300:S768L;ENSP00000443712:S437L	ENSP00000352648:R235X|ENSP00000349300:S768L	R|S	-|-	1|2	2|0	BCL11A|BCL11A	60533233|60533233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.069000|6.069000	0.71209|0.71209	2.810000|2.810000	0.96702|0.96702	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.557	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893	
PAPOLG	64895	broad.mit.edu	37	2	60996020	60996020	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:60996020T>G	ENST00000238714.3	+	5	682	c.433T>G	c.(433-435)Tta>Gta	p.L145V		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	145					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L145V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CATTAGAAACTTAAGAGTAAG	0.289																																					p.L145V	GBM(183;1497 2932 21839 46797)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T433G	2						.						34.0	36.0	35.0					2																	60996020		2200	4292	6492	60849524	SO:0001583	missense	64895	exon5			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.433T>G	2.37:g.60996020T>G	ENSP00000238714:p.Leu145Val		60849524	NM_022894	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812436	0.50527	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.61	3.23	0.37069	Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.65677	2.01	0.51767	D	0.999936	P	0.38745	0.645	P	0.55545	0.778	T	0.69957	-0.5004	9	0.72032	D	0.01	-21.8176	8.1563	0.31171	0.0:0.2363:0.0:0.7637	.	145	Q9BWT3	PAPOG_HUMAN	V	145	.	ENSP00000238714:L145V	L	+	1	2	PAPOLG	60849524	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	3.260000	0.51523	0.422000	0.26005	0.402000	0.26972	TTA		0.289	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
PAPOLG	64895	broad.mit.edu	37	2	61024275	61024275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61024275C>T	ENST00000238714.3	+	22	2440	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	731					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.R731*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AAATTCCATTCGACTGACCCT	0.398																																					p.R731X	GBM(183;1497 2932 21839 46797)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2191T	2						.						127.0	114.0	118.0					2																	61024275		2203	4300	6503	60877779	SO:0001587	stop_gained	64895	exon22			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.2191C>T	2.37:g.61024275C>T	ENSP00000238714:p.Arg731*		60877779	NM_022894	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Nonsense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156349	0.78114	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.64	3.68	0.42216	.	0.158262	0.53938	D	0.000051	.	.	.	.	.	.	0.44352	D	0.997241	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.4719	13.9315	0.63998	0.373:0.627:0.0:0.0	.	.	.	.	X	731;398;377	.	ENSP00000238714:R731X	R	+	1	2	PAPOLG	60877779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.887000	0.56197	1.460000	0.47911	0.591000	0.81541	CGA		0.398	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
PUS10	150962	broad.mit.edu	37	2	61187580	61187580	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61187580G>T	ENST00000316752.6	-	11	1208	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	PUS10_ENST00000407787.1_Missense_Mutation_p.S316Y	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	316	RNA binding forefinger loop. {ECO:0000255}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.S316Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTCCACTGAAGATTCCAGCTT	0.333																																					p.S316Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947A	2						.						132.0	135.0	134.0					2																	61187580		2203	4300	6503	61041084	SO:0001583	missense	150962	exon11			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.947C>A	2.37:g.61187580G>T	ENSP00000326003:p.Ser316Tyr		61041084	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985137	0.74474	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	T;T	0.47177	0.85;0.85	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.62445	-0.6853	10	0.27785	T	0.31	-12.7691	19.0383	0.92987	0.0:0.0:1.0:0.0	.	316;316	A8K6R4;Q3MIT2	.;PUS10_HUMAN	Y	316	ENSP00000326003:S316Y;ENSP00000386074:S316Y	ENSP00000326003:S316Y	S	-	2	0	PUS10	61041084	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.783000	0.75078	2.507000	0.84556	0.455000	0.32223	TCT		0.333	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
PUS10	150962	broad.mit.edu	37	2	61189977	61189977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61189977C>A	ENST00000316752.6	-	9	1033	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	PUS10_ENST00000407787.1_Nonsense_Mutation_p.E258*	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	258					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.E258*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATCCTCTTCCTTTATCTTA	0.308																																					p.E258X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G772T	2						.						66.0	62.0	64.0					2																	61189977		2196	4295	6491	61043481	SO:0001587	stop_gained	150962	exon9			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.772G>T	2.37:g.61189977C>A	ENSP00000326003:p.Glu258*		61043481	NM_144709	Q5JPJ5|Q96MI8	Nonsense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	36	5.864136	0.97043	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.46	5.46	0.80206	.	0.102234	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	1.1293	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	258	.	ENSP00000326003:E258X	E	-	1	0	PUS10	61043481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.829000	0.75314	2.724000	0.93272	0.585000	0.79938	GAA		0.308	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
PUS10	150962	broad.mit.edu	37	2	61235931	61235931	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61235931G>T	ENST00000316752.6	-	3	607	c.346C>A	c.(346-348)Ctt>Att	p.L116I	PUS10_ENST00000407787.1_Missense_Mutation_p.L116I	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	116					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.L116I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AATTCTTGAAGAATTCCTAGG	0.323																																					p.L116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C346A	2						.						50.0	52.0	52.0					2																	61235931		2202	4299	6501	61089435	SO:0001583	missense	150962	exon3			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.346C>A	2.37:g.61235931G>T	ENSP00000326003:p.Leu116Ile		61089435	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535626	0.85812	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.86972	0.2098	9	0.66056	D	0.02	-15.619	16.8502	0.85992	0.0:0.0:1.0:0.0	.	116	Q3MIT2	PUS10_HUMAN	I	116	.	ENSP00000326003:L116I	L	-	1	0	PUS10	61089435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.107000	0.71517	2.583000	0.87209	0.591000	0.81541	CTT		0.323	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
PEX13	5194	broad.mit.edu	37	2	61275624	61275624	+	Missense_Mutation	SNP	C	C	T	rs376720470		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61275624C>T	ENST00000295030.5	+	4	969	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	311	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.R311C(1)		endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACCCAAAGTGCGTGGTTGGCT	0.388																																					p.R311C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931T	2						.	C	CYS/ARG	0,4406		0,0,2203	57.0	61.0	60.0		931	6.0	1.0	2		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEX13	NM_002618.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	311/404	61275624	1,13005	2203	4300	6503	61129128	SO:0001583	missense	5194	exon4			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.931C>T	2.37:g.61275624C>T	ENSP00000295030:p.Arg311Cys		61129128	NM_002618	B2RCS1	Missense_Mutation	SNP	ENST00000295030.5	37	CCDS1866.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877208	0.91664	0.0	1.16E-4	ENSG00000162928	ENST00000295030	T	0.48201	0.82	5.96	5.96	0.96718	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75673	-0.3236	10	0.72032	D	0.01	-11.1913	20.4082	0.99013	0.0:1.0:0.0:0.0	.	311	Q92968	PEX13_HUMAN	C	311	ENSP00000295030:R311C	ENSP00000295030:R311C	R	+	1	0	PEX13	61129128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.724000	0.68500	2.814000	0.96858	0.655000	0.94253	CGT		0.388	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251581.3	NM_002618	
USP34	9736	broad.mit.edu	37	2	61415279	61415279	+	Silent	SNP	G	G	A	rs375982399		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61415279G>A	ENST00000398571.2	-	80	10675	c.10599C>T	c.(10597-10599)gtC>gtT	p.V3533V	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3533					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V3533V(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCTTGTGACGACATGGATTG	0.443																																					p.V3533V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C10599T	2						.	G		0,3864		0,0,1932	67.0	64.0	65.0		10599	4.7	1.0	2		65	2,8272		0,2,4135	no	coding-synonymous	USP34	NM_014709.3		0,2,6067	AA,AG,GG		0.0242,0.0,0.0165		3533/3547	61415279	2,12136	1932	4137	6069	61268783	SO:0001819	synonymous_variant	9736	exon80			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10599C>T	2.37:g.61415279G>A			61268783	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	3.033	-0.199147	0.06219	0.0	2.42E-4	ENSG00000115464	ENST00000411912	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	T	0.73055	0.3538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73382	-0.4000	4	.	.	.	.	16.9441	0.86226	0.0:0.8718:0.1282:0.0	.	.	.	.	C	1210	.	.	R	-	1	0	USP34	61268783	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.524000	0.35942	1.472000	0.48140	-0.197000	0.12766	CGT		0.443	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61441528	61441528	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61441528G>A	ENST00000398571.2	-	68	8425	c.8349C>T	c.(8347-8349)ttC>ttT	p.F2783F	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2783					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F2783F(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTTAGGCTGGAAAAGGTTCC	0.378																																					p.F2783F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8349T	2						.						89.0	85.0	86.0					2																	61441528		1866	4102	5968	61295032	SO:0001819	synonymous_variant	9736	exon68			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8349C>T	2.37:g.61441528G>A			61295032	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	6.058	0.379080	0.11466	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.76622	0.4013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74259	-0.3723	4	.	.	.	.	20.0108	0.97448	0.0:0.0:1.0:0.0	.	.	.	.	S	543	.	.	P	-	1	0	USP34	61295032	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.738000	0.93877	0.591000	0.81541	CCA		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61454211	61454211	+	Missense_Mutation	SNP	C	C	T	rs371000877		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61454211C>T	ENST00000398571.2	-	62	7662	c.7586G>A	c.(7585-7587)cGa>cAa	p.R2529Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2529					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R2529Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTTCTGATCGAGACTGTTC	0.348																																					p.R2529Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7586A	2						.	C	GLN/ARG	0,3694		0,0,1847	110.0	97.0	101.0		7586	5.3	1.0	2		101	1,8171		0,1,4085	no	missense	USP34	NM_014709.3	43	0,1,5932	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2529/3547	61454211	1,11865	1847	4086	5933	61307715	SO:0001583	missense	9736	exon62			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7586G>A	2.37:g.61454211C>T	ENSP00000381577:p.Arg2529Gln		61307715	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644478	0.96704	0.0	1.22E-4	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.05513	3.77;3.43	5.29	5.29	0.74685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	L	0.59436	1.845	0.80722	D	1	P	0.47409	0.895	B	0.40940	0.344	T	0.02053	-1.1222	10	0.62326	D	0.03	.	18.9386	0.92597	0.0:1.0:0.0:0.0	.	2529	Q70CQ2	UBP34_HUMAN	Q	2377;2377;2529;807	ENSP00000381577:R2529Q;ENSP00000410559:R807Q	ENSP00000263989:R2377Q	R	-	2	0	USP34	61307715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.478000	0.83669	0.650000	0.86243	CGA		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61472346	61472346	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61472346G>A	ENST00000398571.2	-	51	6702	c.6626C>T	c.(6625-6627)aCg>aTg	p.T2209M		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2209	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T2209M(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAAACTTACCGTCATCTCTCC	0.323																																					p.T2209M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6626T	2						.						112.0	102.0	105.0					2																	61472346		1836	4094	5930	61325850	SO:0001630	splice_region_variant	9736	exon51			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6627+1C>T	2.37:g.61472346G>A			61325850	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747939	0.89663	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.05580	3.42;3.42	5.34	5.34	0.76211	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.44542	1.39	0.80722	D	1	B	0.34349	0.45	P	0.47573	0.55	T	0.06899	-1.0801	10	0.32370	T	0.25	.	19.391	0.94583	0.0:0.0:1.0:0.0	.	2209	Q70CQ2	UBP34_HUMAN	M	2057;2057;2209;487	ENSP00000381577:T2209M;ENSP00000410559:T487M	ENSP00000263989:T2057M	T	-	2	0	USP34	61325850	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.619000	0.98369	2.657000	0.90304	0.585000	0.79938	ACG		0.323	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		Missense_Mutation
USP34	9736	broad.mit.edu	37	2	61505526	61505526	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61505526C>T	ENST00000398571.2	-	40	5385	c.5309G>A	c.(5308-5310)cGa>cAa	p.R1770Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1770					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1770Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTTTACCTTCGAATACAGTC	0.279																																					p.R1770Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5309A	2						.						52.0	47.0	48.0					2																	61505526		1802	4078	5880	61359030	SO:0001583	missense	9736	exon40			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5309G>A	2.37:g.61505526C>T	ENSP00000381577:p.Arg1770Gln		61359030	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612969	0.46631	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03860	3.93;3.78	5.22	5.22	0.72569	.	0.067743	0.56097	D	0.000033	T	0.03220	0.0094	N	0.08118	0	0.42745	D	0.993757	B	0.28082	0.2	B	0.23018	0.043	T	0.57476	-0.7805	10	0.18710	T	0.47	.	16.9682	0.86291	0.0:1.0:0.0:0.0	.	1770	Q70CQ2	UBP34_HUMAN	Q	1618;1618;1770;48	ENSP00000381577:R1770Q;ENSP00000410559:R48Q	ENSP00000263989:R1618Q	R	-	2	0	USP34	61359030	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.331000	0.65905	2.440000	0.82611	0.467000	0.42956	CGA		0.279	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61539018	61539018	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61539018T>G	ENST00000398571.2	-	26	3646	c.3570A>C	c.(3568-3570)caA>caC	p.Q1190H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1190					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q1190H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGCCTTCAATTTGCCACTGTC	0.398																																					p.Q1190H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3570C	2						.						82.0	78.0	80.0					2																	61539018		1915	4114	6029	61392522	SO:0001583	missense	9736	exon26			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3570A>C	2.37:g.61539018T>G	ENSP00000381577:p.Gln1190His		61392522	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360454	0.61403	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03580	3.88	5.28	0.985	0.19779	.	0.000000	0.85682	D	0.000000	T	0.09512	0.0234	L	0.44542	1.39	0.46609	D	0.999128	D	0.57571	0.98	D	0.66979	0.948	T	0.01657	-1.1302	10	0.62326	D	0.03	.	9.897	0.41324	0.0:0.3186:0.0:0.6814	.	1190	Q70CQ2	UBP34_HUMAN	H	1038;1038;1190	ENSP00000381577:Q1190H	ENSP00000263989:Q1038H	Q	-	3	2	USP34	61392522	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.858000	0.27845	-0.002000	0.14469	0.477000	0.44152	CAA		0.398	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61546367	61546367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61546367G>A	ENST00000398571.2	-	22	3185	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1037					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1037*(3)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTTACTTCGAACTTGATTT	0.333																																					p.R1037X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3109T	2						.						125.0	115.0	118.0					2																	61546367		1862	4089	5951	61399871	SO:0001587	stop_gained	9736	exon22			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3109C>T	2.37:g.61546367G>A	ENSP00000381577:p.Arg1037*		61399871	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	43	9.842842	0.99277	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;1037	.	ENSP00000263989:R885X	R	-	1	2	USP34	61399871	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.519000	0.73768	2.738000	0.93877	0.591000	0.81541	CGA		0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61566607	61566607	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61566607G>T	ENST00000398571.2	-	18	2699	c.2623C>A	c.(2623-2625)Ctt>Att	p.L875I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	875					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L875I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTCAGAAAGATTAACCTAT	0.289																																					p.L875I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2623A	2						.						48.0	42.0	44.0					2																	61566607		1783	4054	5837	61420111	SO:0001583	missense	9736	exon18			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2623C>A	2.37:g.61566607G>T	ENSP00000381577:p.Leu875Ile		61420111	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081639	0.94050	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04970	3.52	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.57536	1.79	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.00438	-1.1739	10	0.26408	T	0.33	.	19.6641	0.95886	0.0:0.0:1.0:0.0	.	875	Q70CQ2	UBP34_HUMAN	I	723;723;875	ENSP00000381577:L875I	ENSP00000263989:L723I	L	-	1	0	USP34	61420111	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.993000	0.88291	2.653000	0.90120	0.460000	0.39030	CTT		0.289	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
XPO1	7514	broad.mit.edu	37	2	61721179	61721179	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:61721179G>T	ENST00000401558.2	-	12	1822	c.1095C>A	c.(1093-1095)atC>atA	p.I365I	XPO1_ENST00000404992.2_Silent_p.I365I|XPO1_ENST00000406957.1_Silent_p.I365I	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	365	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.I365I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAATTTTAAAGATTTCAGTTT	0.358			Mis		CLL																																p.I365I		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1095A	2						.						102.0	109.0	107.0					2																	61721179		2203	4300	6503	61574683	SO:0001819	synonymous_variant	7514	exon12			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1095C>A	2.37:g.61721179G>T			61574683	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	CCDS33205.1																																																																																				0.358	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
FAM161A	84140	broad.mit.edu	37	2	62063155	62063155	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:62063155C>A	ENST00000405894.3	-	4	1774	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	FAM161A_ENST00000404929.1_Missense_Mutation_p.R614I	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	558					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.R558I(1)|p.R449I(1)|p.R558K(1)|p.R449K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGAGCAACTCTTTCAAATAG	0.308																																					p.R558I												.	.	4	Substitution - Missense(4)	large_intestine(2)|pancreas(2)	c.G1673T	2						.						176.0	177.0	177.0					2																	62063155		1800	4067	5867	61916659	SO:0001583	missense	84140	exon4				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1673G>T	2.37:g.62063155C>A	ENSP00000385893:p.Arg558Ile		61916659	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502160	0.64298	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23147	2.08;1.92	5.34	4.47	0.54385	.	0.072294	0.56097	U	0.000030	T	0.48059	0.1479	M	0.76328	2.33	0.52099	D	0.999944	D;D	0.89917	0.999;1.0	D;D	0.73380	0.964;0.98	T	0.47535	-0.9110	10	0.52906	T	0.07	-1.5634	10.924	0.47182	0.0:0.8472:0.0:0.1528	.	558;614	Q3B820;Q3B820-3	F161A_HUMAN;.	I	614;558	ENSP00000385158:R614I;ENSP00000385893:R558I	ENSP00000385158:R614I	R	-	2	0	FAM161A	61916659	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.305000	0.43664	1.264000	0.44198	-0.140000	0.14226	AGA		0.308	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
FAM161A	84140	broad.mit.edu	37	2	62066799	62066799	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:62066799G>A	ENST00000405894.3	-	3	1441	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	FAM161A_ENST00000404929.1_Missense_Mutation_p.S447F	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	447					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.S338F(1)|p.S447F(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGTTTTGGAGACTTGTGTTC	0.403																																					p.S447F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1340T	2						.						126.0	112.0	116.0					2																	62066799		1868	4102	5970	61920303	SO:0001583	missense	84140	exon3				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1340C>T	2.37:g.62066799G>A	ENSP00000385893:p.Ser447Phe		61920303	NM_032180	B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566814	0.03910	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23147	1.92;1.92	5.19	-10.4	0.00318	.	2.126740	0.01162	N	0.006679	T	0.09949	0.0244	N	0.05383	-0.06	0.09310	N	1	B;B	0.16166	0.016;0.004	B;B	0.16722	0.016;0.005	T	0.11518	-1.0584	10	0.09590	T	0.72	-21.5296	7.4306	0.27126	0.143:0.0753:0.1435:0.6383	.	447;447	Q3B820;Q3B820-3	F161A_HUMAN;.	F	447	ENSP00000385158:S447F;ENSP00000385893:S447F	ENSP00000385158:S447F	S	-	2	0	FAM161A	61920303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.757000	0.04772	-3.347000	0.00182	-1.012000	0.02466	TCT		0.403	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
FAM161A	84140	broad.mit.edu	37	2	62067353	62067353	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:62067353G>A	ENST00000405894.3	-	3	887	c.786C>T	c.(784-786)atC>atT	p.I262I	FAM161A_ENST00000404929.1_Silent_p.I262I	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	262					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.I153I(1)|p.I262I(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTACCATTTCGATATCTGATT	0.393																																					p.I262I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C786T	2						.						194.0	170.0	177.0					2																	62067353		1820	4086	5906	61920857	SO:0001819	synonymous_variant	84140	exon3				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.786C>T	2.37:g.62067353G>A			61920857	NM_032180	B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	CCDS42687.2																																																																																				0.393	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180	
EHBP1	23301	broad.mit.edu	37	2	63058227	63058227	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:63058227G>A	ENST00000263991.5	+	7	1050	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	EHBP1_ENST00000431489.1_Missense_Mutation_p.E190K|EHBP1_ENST00000354487.3_Missense_Mutation_p.E190K|EHBP1_ENST00000405289.1_Missense_Mutation_p.E190K|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.E190K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	190						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E190K(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGACTTCGAAGAAGATAA	0.338																																					p.E190K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568A	2						.						115.0	105.0	108.0					2																	63058227		2203	4300	6503	62911731	SO:0001583	missense	23301	exon6			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.568G>A	2.37:g.63058227G>A	ENSP00000263991:p.Glu190Lys		62911731	NM_001142614	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640263	0.96693	.	.	ENSG00000115504	ENST00000405015;ENST00000449820;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.75154	-0.91;0.85;0.81;-0.91;-0.9;-0.91;-0.91	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84745	0.5540	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.965;0.991	D	0.83610	0.0133	10	0.52906	T	0.07	.	20.3967	0.98985	0.0:0.0:1.0:0.0	.	190;190;190	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	K	190;70;190;190;190;190;190	ENSP00000384143:E190K;ENSP00000399609:E70K;ENSP00000384829:E190K;ENSP00000403783:E190K;ENSP00000263991:E190K;ENSP00000346482:E190K;ENSP00000385524:E190K	ENSP00000263991:E190K	E	+	1	0	EHBP1	62911731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.829000	0.97493	0.655000	0.94253	GAA		0.338	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
OTX1	5013	broad.mit.edu	37	2	63283029	63283029	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:63283029G>A	ENST00000282549.2	+	5	919	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	OTX1_ENST00000366671.3_Missense_Mutation_p.A215T	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	215					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A215T(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGCAGGCGCCGCCACCGCAGC	0.677																																					p.A215T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G643A	2						.						20.0	22.0	21.0					2																	63283029		2200	4295	6495	63136533	SO:0001583	missense	5013	exon5				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.643G>A	2.37:g.63283029G>A	ENSP00000282549:p.Ala215Thr		63136533	NM_001199770	A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527835	0.44969	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.90844	-2.74;-2.74	3.47	3.47	0.39725	Transcription factor Otx, C-terminal (1);	0.322027	0.24628	N	0.036902	D	0.83746	0.5321	L	0.36672	1.1	0.40165	D	0.977118	B	0.19817	0.039	B	0.09377	0.004	T	0.79356	-0.1837	10	0.26408	T	0.33	.	10.5954	0.45333	0.0:0.0:1.0:0.0	.	215	P32242	OTX1_HUMAN	T	215	ENSP00000355631:A215T;ENSP00000282549:A215T	ENSP00000282549:A215T	A	+	1	0	OTX1	63136533	0.997000	0.39634	0.997000	0.53966	0.957000	0.61999	2.605000	0.46283	1.920000	0.55613	0.462000	0.41574	GCC		0.677	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1		
WDPCP	51057	broad.mit.edu	37	2	63401881	63401881	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:63401881G>A	ENST00000272321.7	-	15	2529	c.2002C>T	c.(2002-2004)Cca>Tca	p.P668S	WDPCP_ENST00000398544.3_Missense_Mutation_p.P509S|WDPCP_ENST00000409199.1_Missense_Mutation_p.P476S|WDPCP_ENST00000409120.1_Missense_Mutation_p.P476S	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	668					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.P668S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGGTTATCTGGAAATGAGTCT	0.423																																					p.P668S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2002T	2						.						155.0	143.0	147.0					2																	63401881		1863	4100	5963	63255385	SO:0001583	missense	51057	exon15				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2002C>T	2.37:g.63401881G>A	ENSP00000272321:p.Pro668Ser		63255385	NM_015910	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183736	0.38609	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.76709	-1.04;-0.45;-0.45;-0.45	5.29	4.4	0.53042	.	0.497073	0.16717	N	0.202402	T	0.70789	0.3264	L	0.32530	0.975	0.80722	D	1	B;B	0.30634	0.19;0.288	B;B	0.36244	0.11;0.22	T	0.69606	-0.5100	10	0.59425	D	0.04	-0.2098	11.2467	0.49002	0.0:0.0:0.817:0.183	.	668;509	O95876;O95876-3	FRITZ_HUMAN;.	S	668;476;476;509	ENSP00000272321:P668S;ENSP00000386592:P476S;ENSP00000386769:P476S;ENSP00000381552:P509S	ENSP00000272321:P668S	P	-	1	0	WDPCP	63255385	0.944000	0.32072	0.996000	0.52242	0.927000	0.56198	0.658000	0.24979	1.222000	0.43521	0.508000	0.49915	CCA		0.423	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
WDPCP	51057	broad.mit.edu	37	2	63631593	63631593	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:63631593C>T	ENST00000272321.7	-	10	1552	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N	WDPCP_ENST00000398544.3_Missense_Mutation_p.S183N|WDPCP_ENST00000409199.1_Missense_Mutation_p.S150N|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.S342N|WDPCP_ENST00000409120.1_Missense_Mutation_p.S150N	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	342					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.S342N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCTGCAGCAGCTGATGGCCTT	0.443																																					p.S342N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1025A	2						.						125.0	121.0	122.0					2																	63631593		1982	4171	6153	63485097	SO:0001583	missense	51057	exon10				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1025G>A	2.37:g.63631593C>T	ENSP00000272321:p.Ser342Asn		63485097	NM_015910	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945353	0.73672	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);	0.101090	0.64402	D	0.000001	T	0.73760	0.3628	M	0.76002	2.32	0.45076	D	0.998094	P;D;P;B	0.89917	0.728;1.0;0.854;0.244	B;D;P;B	0.74348	0.397;0.983;0.505;0.155	T	0.74077	-0.3781	10	0.54805	T	0.06	-11.295	19.8499	0.96734	0.0:1.0:0.0:0.0	.	150;342;342;183	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	N	342;150;150;183;342	ENSP00000272321:S342N;ENSP00000386592:S150N;ENSP00000386769:S150N;ENSP00000381552:S183N;ENSP00000387222:S342N	ENSP00000272321:S342N	S	-	2	0	WDPCP	63485097	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.122000	0.57910	2.779000	0.95612	0.591000	0.81541	AGC		0.443	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
WDPCP	51057	broad.mit.edu	37	2	63664615	63664615	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:63664615C>T	ENST00000272321.7	-	8	1100	c.573G>A	c.(571-573)aaG>aaA	p.K191K	WDPCP_ENST00000398544.3_Silent_p.K32K|WDPCP_ENST00000409199.1_5'UTR|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.K191K|WDPCP_ENST00000409120.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	191					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.K191K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACTCCATCTTCTTGGTAAACT	0.279																																					p.K191K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G573A	2						.						49.0	48.0	48.0					2																	63664615		1790	4042	5832	63518119	SO:0001819	synonymous_variant	51057	exon8				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.573G>A	2.37:g.63664615C>T			63518119	NM_015910	Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	CCDS42688.1																																																																																				0.279	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
UGP2	7360	broad.mit.edu	37	2	64111204	64111204	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:64111204A>C	ENST00000337130.5	+	5	1028	c.552A>C	c.(550-552)aaA>aaC	p.K184N	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.K173N|UGP2_ENST00000394417.2_Missense_Mutation_p.K173N|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.K193N	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	184					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.K184N(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GTCGTGTGAAAATCTACACTT	0.333																																					p.K173N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A519C	2						.						78.0	77.0	77.0					2																	64111204		2203	4299	6502	63964708	SO:0001583	missense	7360	exon5				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.552A>C	2.37:g.64111204A>C	ENSP00000338703:p.Lys184Asn		63964708	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359379	0.41801	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915;ENST00000491621	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.72	5.72	0.89469	.	0.040435	0.85682	D	0.000000	T	0.16300	0.0392	L	0.46885	1.475	0.58432	D	0.999999	B;B	0.14012	0.009;0.009	B;B	0.21151	0.033;0.022	T	0.04522	-1.0945	10	0.40728	T	0.16	-44.1392	9.1549	0.36988	0.8588:0.0:0.1412:0.0	.	193;184	E7EUC7;Q16851	.;UGPA_HUMAN	N	173;173;184;193;173	ENSP00000377939:K173N;ENSP00000420793:K173N;ENSP00000338703:K184N;ENSP00000411803:K193N;ENSP00000420342:K173N	ENSP00000338703:K184N	K	+	3	2	UGP2	63964708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.430000	0.34914	2.183000	0.69458	0.533000	0.62120	AAA		0.333	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
UGP2	7360	broad.mit.edu	37	2	64112910	64112910	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:64112910C>A	ENST00000337130.5	+	6	1239	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.L244M|UGP2_ENST00000394417.2_Missense_Mutation_p.L244M|ACA59_ENST00000515966.1_RNA|UGP2_ENST00000445915.2_Missense_Mutation_p.L264M	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	255					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.L255M(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CATAGATAATCTGGGTGCCAC	0.383																																					p.L244M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730A	2						.						126.0	127.0	127.0					2																	64112910		2203	4300	6503	63966414	SO:0001583	missense	7360	exon6				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.763C>A	2.37:g.64112910C>A	ENSP00000338703:p.Leu255Met		63966414	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697888	0.68386	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.8	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.66560	2.04	0.80722	D	1	D;D	0.58268	0.982;0.982	D;P	0.63192	0.912;0.902	T	0.55970	-0.8056	10	0.62326	D	0.03	-37.3379	9.0806	0.36550	0.0:0.6581:0.0:0.3419	.	264;255	E7EUC7;Q16851	.;UGPA_HUMAN	M	244;244;255;264	ENSP00000377939:L244M;ENSP00000420793:L244M;ENSP00000338703:L255M;ENSP00000411803:L264M	ENSP00000338703:L255M	L	+	1	2	UGP2	63966414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.613000	0.46351	0.814000	0.34374	-0.136000	0.14681	CTG		0.383	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
VPS54	51542	broad.mit.edu	37	2	64176173	64176173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:64176173C>A	ENST00000272322.4	-	8	1289	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	VPS54_ENST00000354504.3_Nonsense_Mutation_p.E262*|VPS54_ENST00000409558.4_Nonsense_Mutation_p.E367*			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	379					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.E379*(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ACACATACCTCTTCTAAAACT	0.313																																					p.E379X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1135T	2						.						94.0	89.0	91.0					2																	64176173		2202	4297	6499	64029677	SO:0001587	stop_gained	51542	exon8			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1135G>T	2.37:g.64176173C>A	ENSP00000272322:p.Glu379*		64029677	NM_016516	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Nonsense_Mutation	SNP	ENST00000272322.4	37	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	42	9.753894	0.99255	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	.	.	.	5.23	5.23	0.72850	.	0.047978	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.1696	0.93572	0.0:1.0:0.0:0.0	.	.	.	.	X	262;379;367;367;379	.	ENSP00000272322:E379X	E	-	1	0	VPS54	64029677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.172000	0.58243	2.592000	0.87571	0.655000	0.94253	GAG		0.313	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516	
PELI1	57162	broad.mit.edu	37	2	64322274	64322274	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:64322274C>T	ENST00000358912.4	-	7	1261	c.819G>A	c.(817-819)caG>caA	p.Q273Q		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	273					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q273Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CATTGATTTCCTGTCTTAAAG	0.458																																					p.Q273Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G819A	2						.						110.0	104.0	106.0					2																	64322274		2203	4300	6503	64175778	SO:0001819	synonymous_variant	57162	exon7				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"""Pellino homologs"""	8827	protein-coding gene	gene with protein product		614797	"""pellino (Drosophila) homolog 1"", ""pellino homolog 1 (Drosophila)"""			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.819G>A	2.37:g.64322274C>T			64175778	NM_020651	Q96SM0|Q9GZY5|Q9HCX0	Silent	SNP	ENST00000358912.4	37	CCDS1876.1																																																																																				0.458	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251686.1	NM_020651	
AFTPH	54812	broad.mit.edu	37	2	64778628	64778628	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:64778628G>A	ENST00000422803.1	+	2	334	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	AFTPH_ENST00000238856.4_Missense_Mutation_p.R7Q|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.R7Q|AFTPH_ENST00000409933.1_Missense_Mutation_p.R7Q			Q6ULP2	AFTIN_HUMAN	aftiphilin	7					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.R7Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GACATCATTCGAATGTACTCT	0.378																																					p.R7Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G20A	2						.						83.0	88.0	87.0					2																	64778628		2198	4300	6498	64632132	SO:0001583	missense	54812	exon2			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.20G>A	2.37:g.64778628G>A	ENSP00000397726:p.Arg7Gln		64632132	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	13.96	2.392675	0.42410	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.63	4.76	0.60689	.	0.082377	0.48286	N	0.000183	T	0.24736	0.0600	M	0.74258	2.255	0.47994	D	0.999562	P;P;P;P	0.43352	0.804;0.804;0.804;0.804	B;B;B;B	0.33750	0.11;0.169;0.169;0.11	T	0.18053	-1.0349	10	0.87932	D	0	-2.2079	14.8785	0.70513	0.0689:0.0:0.9311:0.0	.	7;7;7;7	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Q	7	ENSP00000238856:R7Q;ENSP00000397726:R7Q;ENSP00000238855:R7Q;ENSP00000387071:R7Q	ENSP00000238855:R7Q	R	+	2	0	AFTPH	64632132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.291000	0.72719	1.529000	0.49120	0.655000	0.94253	CGA		0.378	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
CEP68	23177	broad.mit.edu	37	2	65309732	65309732	+	Missense_Mutation	SNP	C	C	T	rs141590287		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:65309732C>T	ENST00000377990.2	+	6	2370	c.2167C>T	c.(2167-2169)Cgc>Tgc	p.R723C	CEP68_ENST00000546106.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.R586C|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	723					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R723C(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCACGCAGATCGCCTGTATGA	0.498																																					p.R723C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2167T	2						.	C	CYS/ARG	0,4406		0,0,2203	162.0	150.0	154.0		2167	4.7	0.3	2	dbSNP_134	154	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP68	NM_015147.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	723/758	65309732	1,13005	2203	4300	6503	65163236	SO:0001583	missense	23177	exon6			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2167C>T	2.37:g.65309732C>T	ENSP00000367229:p.Arg723Cys		65163236	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313609	0.81358	0.0	1.16E-4	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.19669	2.13;2.24	5.61	4.73	0.59995	.	0.782790	0.11788	N	0.529517	T	0.40272	0.1110	L	0.56769	1.78	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;P	0.56700	0.804;0.804	T	0.24190	-1.0167	10	0.87932	D	0	-2.846	16.5739	0.84632	0.0:0.8694:0.1306:0.0	.	723;586	Q76N32;Q76N32-2	CEP68_HUMAN;.	C	723;586	ENSP00000367229:R723C;ENSP00000260569:R586C	ENSP00000260569:R586C	R	+	1	0	CEP68	65163236	0.949000	0.32298	0.271000	0.24616	0.986000	0.74619	3.934000	0.56553	1.363000	0.46019	0.561000	0.74099	CGC		0.498	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
CEP68	23177	broad.mit.edu	37	2	65309814	65309814	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:65309814T>C	ENST00000377990.2	+	6	2452	c.2249T>C	c.(2248-2250)aTg>aCg	p.M750T	CEP68_ENST00000260569.4_Missense_Mutation_p.M613T|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	750					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.M750T(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATGGCGGCAATGGAGCACCCA	0.522																																					p.M750T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2249C	2						.						106.0	102.0	103.0					2																	65309814		2203	4300	6503	65163318	SO:0001583	missense	23177	exon6			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.2249T>C	2.37:g.65309814T>C	ENSP00000367229:p.Met750Thr		65163318	NM_015147	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	T	9.701	1.154471	0.21371	.	.	ENSG00000011523	ENST00000377990;ENST00000260569	T;T	0.13089	2.63;2.62	5.0	-2.73	0.05950	.	3.212500	0.01076	N	0.004918	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35699	-0.9778	10	0.87932	D	0	3.0625	1.6063	0.02684	0.2633:0.4049:0.1858:0.146	.	750;613	Q76N32;Q76N32-2	CEP68_HUMAN;.	T	750;613	ENSP00000367229:M750T;ENSP00000260569:M613T	ENSP00000260569:M613T	M	+	2	0	CEP68	65163318	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.057000	0.11768	-0.294000	0.08973	-0.527000	0.04329	ATG		0.522	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
ACTR2	10097	broad.mit.edu	37	2	65467088	65467088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:65467088G>T	ENST00000260641.5	+	2	308	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Nonsense_Mutation_p.E51*|ACTR2_ENST00000542850.1_5'UTR	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	51					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.E51*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GGGAAACATTGAAATCAAGGT	0.323																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	2						.						55.0	54.0	55.0					2																	65467088		2203	4299	6502	65320592	SO:0001587	stop_gained	10097	exon2			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.151G>T	2.37:g.65467088G>T	ENSP00000260641:p.Glu51*		65320592	NM_001005386	B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Nonsense_Mutation	SNP	ENST00000260641.5	37	CCDS1881.1	.	.	.	.	.	.	.	.	.	.	G	38	6.865130	0.97897	.	.	ENSG00000138071	ENST00000260641;ENST00000377982	.	.	.	5.87	5.87	0.94306	.	0.000000	0.34853	U	0.003633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-23.7224	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000260641:E51X	E	+	1	0	ACTR2	65320592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GAA		0.323	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386	
SPRED2	200734	broad.mit.edu	37	2	65541002	65541002	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:65541002G>A	ENST00000356388.4	-	6	1079	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SPRED2_ENST00000443619.2_Missense_Mutation_p.S294L|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	297					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S297L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGCCGCCGCGACTTGCCCCG	0.677																																					p.S297L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890T	2						.						44.0	50.0	48.0					2																	65541002		2202	4298	6500	65394506	SO:0001583	missense	200734	exon6			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.890C>T	2.37:g.65541002G>A	ENSP00000348753:p.Ser297Leu		65394506	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949414	0.53186	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78003	-1.14;-1.13;-1.14;-0.14	5.75	3.81	0.43845	.	0.287715	0.33110	N	0.005275	T	0.76637	0.4015	M	0.71581	2.175	0.36141	D	0.846799	B;B	0.13145	0.007;0.006	B;B	0.06405	0.002;0.002	T	0.78927	-0.2011	10	0.48119	T	0.1	-7.7818	15.7879	0.78322	0.0:0.2573:0.7427:0.0	.	294;297	E9PEP0;Q7Z698	.;SPRE2_HUMAN	L	297;294;312;179	ENSP00000348753:S297L;ENSP00000393697:S294L;ENSP00000390595:S312L;ENSP00000407627:S179L	ENSP00000348753:S297L	S	-	2	0	SPRED2	65394506	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	2.893000	0.48633	1.395000	0.46643	0.655000	0.94253	TCG		0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
SPRED2	200734	broad.mit.edu	37	2	65541250	65541250	+	Silent	SNP	G	G	A	rs151327457		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:65541250G>A	ENST00000356388.4	-	6	831	c.642C>T	c.(640-642)atC>atT	p.I214I	SPRED2_ENST00000443619.2_Silent_p.I211I|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	214	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.I214I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGATGCGCACGATCTCCTCGT	0.622																																					p.I214I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	2						.						45.0	43.0	44.0					2																	65541250		2203	4300	6503	65394754	SO:0001819	synonymous_variant	200734	exon6			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.642C>T	2.37:g.65541250G>A			65394754	NM_181784	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Silent	SNP	ENST00000356388.4	37	CCDS33211.1																																																																																				0.622	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1		
ETAA1	54465	broad.mit.edu	37	2	67630947	67630947	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:67630947A>T	ENST00000272342.5	+	5	1263	c.1133A>T	c.(1132-1134)gAt>gTt	p.D378V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	378						cytoplasm (GO:0005737)		p.D378V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACTACAAGTGATTTTGAGGAT	0.368																																					p.D378V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1133T	2						.						89.0	91.0	90.0					2																	67630947		2203	4297	6500	67484451	SO:0001583	missense	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1133A>T	2.37:g.67630947A>T	ENSP00000272342:p.Asp378Val		67484451	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033525	0.54896	.	.	ENSG00000143971	ENST00000272342	T	0.35973	1.28	5.77	4.63	0.57726	.	0.052545	0.64402	D	0.000001	T	0.58090	0.2098	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60915	-0.7168	10	0.87932	D	0	-30.5644	10.7691	0.46312	0.9262:0.0:0.0738:0.0	.	378	Q9NY74	ETAA1_HUMAN	V	378	ENSP00000272342:D378V	ENSP00000272342:D378V	D	+	2	0	ETAA1	67484451	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.698000	0.54771	1.022000	0.39626	0.533000	0.62120	GAT		0.368	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
ETAA1	54465	broad.mit.edu	37	2	67631578	67631578	+	Missense_Mutation	SNP	A	A	C	rs61737411	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:67631578A>C	ENST00000272342.5	+	5	1894	c.1764A>C	c.(1762-1764)gaA>gaC	p.E588D	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	588						cytoplasm (GO:0005737)		p.E588D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTGCCAATGAAATTATTAAAG	0.353																																					p.E588D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1764C	2						.						92.0	97.0	95.0					2																	67631578		2203	4300	6503	67485082	SO:0001583	missense	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1764A>C	2.37:g.67631578A>C	ENSP00000272342:p.Glu588Asp		67485082	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550417	0.45383	.	.	ENSG00000143971	ENST00000272342	T	0.30981	1.51	5.83	4.67	0.58626	.	0.065091	0.64402	D	0.000006	T	0.35682	0.0940	L	0.43152	1.355	0.32486	N	0.540871	D	0.65815	0.995	P	0.59288	0.855	T	0.47129	-0.9141	10	0.34782	T	0.22	-33.8915	3.9521	0.09374	0.6564:0.1096:0.1279:0.1061	.	588	Q9NY74	ETAA1_HUMAN	D	588	ENSP00000272342:E588D	ENSP00000272342:E588D	E	+	3	2	ETAA1	67485082	1.000000	0.71417	0.990000	0.47175	0.705000	0.40729	1.126000	0.31344	0.462000	0.27095	-1.139000	0.01908	GAA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
ETAA1	54465	broad.mit.edu	37	2	67631731	67631731	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:67631731C>A	ENST00000272342.5	+	5	2047	c.1917C>A	c.(1915-1917)atC>atA	p.I639I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	639						cytoplasm (GO:0005737)		p.I639I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TATGTGAGATCAATAATAATT	0.343																																					p.I639I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1917A	2						.						108.0	112.0	111.0					2																	67631731		2202	4300	6502	67485235	SO:0001819	synonymous_variant	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1917C>A	2.37:g.67631731C>A			67485235	NM_019002	Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	CCDS1882.1																																																																																				0.343	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
FBXO48	554251	broad.mit.edu	37	2	68692121	68692121	+	Missense_Mutation	SNP	G	G	A	rs150942426	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:68692121G>A	ENST00000377957.3	-	3	564	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	APLF_ENST00000303795.4_5'Flank	NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	53	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.R53W(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CACAGACTCCGAATGTCCAGC	0.418																																					p.R53W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	2						.						116.0	116.0	116.0					2																	68692121		2203	4300	6503	68545625	SO:0001583	missense	554251	exon3			BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.157C>T	2.37:g.68692121G>A	ENSP00000367193:p.Arg53Trp		68545625	NM_001024680		Missense_Mutation	SNP	ENST00000377957.3	37	CCDS33213.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715447	0.30413	.	.	ENSG00000204923	ENST00000377957	T	0.52526	0.66	6.07	4.26	0.50523	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	1.478860	0.03526	N	0.221691	T	0.58595	0.2133	M	0.85777	2.775	0.21762	N	0.99955	B	0.14012	0.009	B	0.08055	0.003	T	0.50474	-0.8824	10	0.72032	D	0.01	0.8263	10.7575	0.46245	0.0661:0.2439:0.69:0.0	.	53	Q5FWF7	FBX48_HUMAN	W	53	ENSP00000367193:R53W	ENSP00000367193:R53W	R	-	1	2	FBXO48	68545625	0.001000	0.12720	0.226000	0.23910	0.032000	0.12392	1.037000	0.30241	0.886000	0.36113	-0.165000	0.13383	CGG		0.418	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680	
APLF	200558	broad.mit.edu	37	2	68717383	68717383	+	Missense_Mutation	SNP	G	G	A	rs150464758	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:68717383G>A	ENST00000303795.4	+	2	329	c.158G>A	c.(157-159)cGa>cAa	p.R53Q		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	53	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R53Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GGTCAGCTGCGAATCAAACCG	0.373													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17875	0.0		0.0	False		,,,				2504	0.0				p.R53Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	2						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	84.0	85.0	85.0		158	5.9	1.0	2	dbSNP_134	85	0,8600		0,0,4300	no	missense	APLF	NM_173545.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	53/512	68717383	2,13004	2203	4300	6503	68570887	SO:0001583	missense	200558	exon2			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.158G>A	2.37:g.68717383G>A	ENSP00000307004:p.Arg53Gln		68570887	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.812522	0.90707	4.54E-4	0.0	ENSG00000169621	ENST00000303795	T	0.22945	1.93	5.93	5.93	0.95920	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.66939	2.045	0.40220	D	0.977729	D	0.89917	1.0	D	0.87578	0.998	T	0.43163	-0.9408	10	0.49607	T	0.09	.	15.841	0.78845	0.0:0.0:1.0:0.0	.	53	Q8IW19	APLF_HUMAN	Q	53	ENSP00000307004:R53Q	ENSP00000307004:R53Q	R	+	2	0	APLF	68570887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.289000	0.51747	2.814000	0.96858	0.655000	0.94253	CGA		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
APLF	200558	broad.mit.edu	37	2	68794511	68794511	+	Missense_Mutation	SNP	C	C	T	rs199832884		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:68794511C>T	ENST00000303795.4	+	9	1496	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	442					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.T442M(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AGACATAATACGCTTCCAGGT	0.284																																					p.T442M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325T	2						.						54.0	57.0	56.0					2																	68794511		2201	4300	6501	68648015	SO:0001583	missense	200558	exon9			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1325C>T	2.37:g.68794511C>T	ENSP00000307004:p.Thr442Met		68648015	NM_173545	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	C	8.618	0.890722	0.17613	.	.	ENSG00000169621	ENST00000303795	T	0.22945	1.93	4.99	-0.169	0.13339	Zinc finger, C2H2, APLF-like (1);	0.728970	0.13325	N	0.396330	T	0.13884	0.0336	L	0.36672	1.1	0.09310	N	1	B	0.34313	0.448	B	0.25884	0.064	T	0.14476	-1.0471	10	0.44086	T	0.13	.	3.6139	0.08070	0.1688:0.4668:0.0:0.3644	.	442	Q8IW19	APLF_HUMAN	M	442	ENSP00000307004:T442M	ENSP00000307004:T442M	T	+	2	0	APLF	68648015	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.797000	0.04570	0.101000	0.17610	-0.224000	0.12420	ACG		0.284	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545	
PROKR1	10887	broad.mit.edu	37	2	68882441	68882441	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:68882441C>T	ENST00000303786.3	+	3	1335	c.915C>T	c.(913-915)atC>atT	p.I305I	PROKR1_ENST00000394342.2_Silent_p.I305I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	305					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.I305I(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTTCACCATCGTGCGCGACT	0.582																																					p.I305I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	2						.						142.0	107.0	119.0					2																	68882441		2203	4300	6503	68735945	SO:0001819	synonymous_variant	10887	exon2			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.915C>T	2.37:g.68882441C>T			68735945	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	CCDS1889.1																																																																																				0.582	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
ARHGAP25	9938	broad.mit.edu	37	2	69040538	69040538	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69040538C>T	ENST00000295381.3	+	6	1210	c.791C>T	c.(790-792)gCg>gTg	p.A264V	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A265V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A257V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A258V|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A225V|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A258V|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A239V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	264	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A258V(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTCACGAATGCGGATGAGGCA	0.527																																					p.A258V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C773T	2						.						106.0	89.0	95.0					2																	69040538		2203	4300	6503	68894042	SO:0001583	missense	9938	exon5			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.791C>T	2.37:g.69040538C>T	ENSP00000295381:p.Ala264Val		68894042	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.571|7.571	0.666696|0.666696	0.14710|0.14710	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533|ENST00000497259	T;T;T;T;T;T;T|.	0.19806|.	2.12;2.18;2.18;2.18;2.18;2.18;2.18|.	5.85|5.85	3.95|3.95	0.45737|0.45737	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.363698|.	0.30940|.	N|.	0.008566|.	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.14661|0.14661	0.345|0.345	0.28093|0.28093	N|N	0.931739|0.931739	B;B;B;B;B;B;B|.	0.23937|.	0.02;0.094;0.035;0.086;0.086;0.093;0.012|.	B;B;B;B;B;B;B|.	0.21708|.	0.011;0.036;0.006;0.006;0.006;0.011;0.009|.	T|T	0.13683|0.13683	-1.0500|-1.0500	10|5	0.28530|.	T|.	0.3|.	.|.	4.1188|4.1188	0.10095|0.10095	0.168:0.5993:0.0:0.2327|0.168:0.5993:0.0:0.2327	.|.	225;239;265;258;257;258;264|.	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331|.	.;.;.;.;.;.;RHG25_HUMAN|.	V|W	239;264;265;225;257;258;258;258;249|124	ENSP00000439917:A239V;ENSP00000295381:A264V;ENSP00000386911:A265V;ENSP00000420583:A225V;ENSP00000386863:A257V;ENSP00000386241:A258V;ENSP00000417139:A258V|.	ENSP00000295381:A264V|.	A|R	+|+	2|1	0|2	ARHGAP25|ARHGAP25	68894042|68894042	0.574000|0.574000	0.26684|0.26684	0.984000|0.984000	0.44739|0.44739	0.017000|0.017000	0.09413|0.09413	2.118000|2.118000	0.41949|0.41949	1.477000|1.477000	0.48234|0.48234	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.527	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
ARHGAP25	9938	broad.mit.edu	37	2	69045084	69045084	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69045084C>A	ENST00000295381.3	+	8	1377	c.958C>A	c.(958-960)Ctc>Atc	p.L320I	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.L321I|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.L313I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.L314I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.L281I|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.L314I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.L14I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	320	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.L314I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGTGTGAATCTCATCAGGTC	0.473																																					p.L314I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940A	2						.						176.0	159.0	164.0					2																	69045084		2203	4300	6503	68898588	SO:0001583	missense	9938	exon7			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.958C>A	2.37:g.69045084C>A	ENSP00000295381:p.Leu320Ile		68898588	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	C	11.35	1.612146	0.28712	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.58940	0.3;2.13;2.13;0.3;2.13;2.13;1.29	5.32	5.32	0.75619	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	N	0.12182	0.205	0.80722	D	1	P;P;P;P;P;B	0.52842	0.793;0.956;0.956;0.956;0.944;0.035	B;P;P;P;B;B	0.49085	0.268;0.6;0.6;0.6;0.341;0.084	T	0.38308	-0.9667	10	0.18710	T	0.47	.	18.1728	0.89752	0.0:1.0:0.0:0.0	.	281;321;314;313;314;320	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	I	320;321;281;313;314;314;314;305;14	ENSP00000295381:L320I;ENSP00000386911:L321I;ENSP00000420583:L281I;ENSP00000386863:L313I;ENSP00000386241:L314I;ENSP00000417139:L314I;ENSP00000417467:L14I	ENSP00000295381:L320I	L	+	1	0	ARHGAP25	68898588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.453000	0.44970	2.777000	0.95525	0.650000	0.86243	CTC		0.473	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
ARHGAP25	9938	broad.mit.edu	37	2	69049681	69049681	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69049681C>T	ENST00000295381.3	+	10	1826	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	ARHGAP25_ENST00000409202.3_Silent_p.F470F|ARHGAP25_ENST00000409030.3_Silent_p.F462F|ARHGAP25_ENST00000409220.1_Silent_p.F463F|ARHGAP25_ENST00000467265.1_Silent_p.F430F|ARHGAP25_ENST00000479844.1_Silent_p.F163F	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	469					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.F463F(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAATGAATTCTGGTCGCCTT	0.488																																					p.F463F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1389T	2						.						85.0	87.0	86.0					2																	69049681		2203	4300	6503	68903185	SO:0001819	synonymous_variant	9938	exon9			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1407C>T	2.37:g.69049681C>T			68903185	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	C	9.600	1.128534	0.21041	.	.	ENSG00000163219	ENST00000497259	.	.	.	5.38	4.51	0.55191	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53885	-0.8375	4	.	.	.	.	6.1131	0.20112	0.0:0.6781:0.1556:0.1663	.	.	.	.	F	329	.	.	S	+	2	0	ARHGAP25	68903185	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	0.116000	0.15561	1.399000	0.46721	0.557000	0.71058	TCT		0.488	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
GKN1	56287	broad.mit.edu	37	2	69201798	69201798	+	Missense_Mutation	SNP	C	C	T	rs141746794		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69201798C>T	ENST00000377938.2	+	1	94	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	11					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)		p.R11C(1)		breast(2)|large_intestine(4)|lung(5)	11						CCACTGCTTTCGTGAAGACAA	0.413																																					p.R11C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C31T	2						.	C	CYS/ARG	0,4406		0,0,2203	173.0	154.0	161.0		31	-1.6	0.1	2	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	missense	GKN1	NM_019617.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	11/200	69201798	1,13005	2203	4300	6503	69055302	SO:0001583	missense	56287	exon1			AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.31C>T	2.37:g.69201798C>T	ENSP00000367172:p.Arg11Cys		69055302	NM_019617	Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	C	8.210	0.800099	0.16397	0.0	1.16E-4	ENSG00000169605	ENST00000377938	T	0.48522	0.81	5.35	-1.6	0.08426	.	1.119980	0.06955	N	0.815227	T	0.24122	0.0584	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23655	-1.0182	10	0.48119	T	0.1	0.0244	9.0111	0.36142	0.0:0.3346:0.4654:0.2001	.	11	Q9NS71	GKN1_HUMAN	C	11	ENSP00000367172:R11C	ENSP00000367172:R11C	R	+	1	0	GKN1	69055302	0.000000	0.05858	0.114000	0.21550	0.559000	0.35586	-0.230000	0.09083	-0.154000	0.11118	-0.982000	0.02568	CGT		0.413	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617	
GFPT1	2673	broad.mit.edu	37	2	69586437	69586437	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69586437C>T	ENST00000357308.4	-	5	549	c.371G>A	c.(370-372)gGa>gAa	p.G124E	GFPT1_ENST00000361060.5_Missense_Mutation_p.G124E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	124	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.G124E(1)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GGTGATGATTCCATTGTGAAT	0.333																																					p.G124E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	2						.						71.0	78.0	75.0					2																	69586437		2203	4300	6503	69439941	SO:0001583	missense	2673	exon5				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.371G>A	2.37:g.69586437C>T	ENSP00000349860:p.Gly124Glu		69439941	NM_002056	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776825	0.90195	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	D;D	0.97575	-4.44;-4.44	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.99230	0.9732	H	0.99582	4.64	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.98472	1.0601	10	0.87932	D	0	-18.8729	17.1804	0.86853	0.0:1.0:0.0:0.0	.	124	Q06210-2	.	E	124	ENSP00000349860:G124E;ENSP00000354347:G124E	ENSP00000349860:G124E	G	-	2	0	GFPT1	69439941	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.320000	0.79064	2.699000	0.92147	0.563000	0.77884	GGA		0.333	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
AAK1	22848	broad.mit.edu	37	2	69732794	69732794	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69732794C>T	ENST00000409085.4	-	16	2552	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	AAK1_ENST00000406297.3_Missense_Mutation_p.E726K|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	726					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAAGCTTCTCGGGATGTTTG	0.488																																					p.E726K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2176A	2						.						62.0	63.0	63.0					2																	69732794		1906	4113	6019	69586298	SO:0001583	missense	22848	exon16			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2176G>A	2.37:g.69732794C>T	ENSP00000386456:p.Glu726Lys		69586298	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	37	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029298	0.75504	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.32753	1.44;1.44	5.67	5.67	0.87782	.	0.165937	0.51477	D	0.000088	T	0.37812	0.1017	L	0.34521	1.04	0.54753	D	0.999984	P;P;D	0.69078	0.649;0.761;0.997	B;B;P	0.54026	0.06;0.128;0.74	T	0.02064	-1.1220	10	0.29301	T	0.29	-23.7129	18.3583	0.90365	0.0:1.0:0.0:0.0	.	726;726;726	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	K	726	ENSP00000386456:E726K;ENSP00000385181:E726K	ENSP00000385181:E726K	E	-	1	0	AAK1	69586298	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.225000	0.65294	2.675000	0.91044	0.655000	0.94253	GAG		0.488	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
AAK1	22848	broad.mit.edu	37	2	69769766	69769766	+	Silent	SNP	G	G	A	rs367688452		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:69769766G>A	ENST00000409085.4	-	5	799	c.423C>T	c.(421-423)cgC>cgT	p.R141R	AAK1_ENST00000406297.3_Silent_p.R141R|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Silent_p.R141R	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.R141R(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTGTTTGCAGGCGCTGGTTCA	0.473																																					p.R141R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C423T	2						.						137.0	139.0	139.0					2																	69769766		1911	4137	6048	69623270	SO:0001819	synonymous_variant	22848	exon5			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.423C>T	2.37:g.69769766G>A			69623270	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	ENST00000409085.4	37	CCDS1893.2																																																																																				0.473	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
GMCL1	64395	broad.mit.edu	37	2	70076860	70076860	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:70076860C>A	ENST00000282570.3	+	8	1171	c.920C>A	c.(919-921)tCt>tAt	p.S307Y		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	307					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)		p.S307Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTGGTTTTCTAAACAGAGG	0.318																																					p.S307Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C920A	2						.						73.0	75.0	75.0					2																	70076860		2203	4299	6502	69930364	SO:0001583	missense	64395	exon8			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.920C>A	2.37:g.70076860C>A	ENSP00000282570:p.Ser307Tyr		69930364	NM_178439	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	C	5.690	0.311841	0.10789	.	.	ENSG00000087338	ENST00000282570	T	0.56776	0.44	5.56	5.56	0.83823	.	0.054264	0.85682	D	0.000000	T	0.37785	0.1016	L	0.27053	0.805	0.40082	D	0.976146	B	0.12013	0.005	B	0.11329	0.006	T	0.28490	-1.0042	10	0.02654	T	1	-13.067	17.0154	0.86418	0.0:1.0:0.0:0.0	.	307	Q96IK5	GMCL1_HUMAN	Y	307	ENSP00000282570:S307Y	ENSP00000282570:S307Y	S	+	2	0	GMCL1	69930364	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.257000	0.58816	2.605000	0.88082	0.655000	0.94253	TCT		0.318	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
MXD1	4084	broad.mit.edu	37	2	70162550	70162550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:70162550C>T	ENST00000264444.2	+	4	531	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MXD1_ENST00000540449.1_Nonsense_Mutation_p.R81*	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	91	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)	p.R91*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CGAATCAAGTCGACACACTAC	0.448																																					p.R91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C271T	2						.						120.0	101.0	107.0					2																	70162550		2203	4300	6503	70016054	SO:0001587	stop_gained	4084	exon4				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.271C>T	2.37:g.70162550C>T	ENSP00000264444:p.Arg91*		70016054	NM_002357	B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Nonsense_Mutation	SNP	ENST00000264444.2	37	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	C	37	6.511282	0.97624	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	.	.	.	5.94	5.06	0.68205	.	0.053582	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6773	0.56901	0.4027:0.5973:0.0:0.0	.	.	.	.	X	59;91;81	.	ENSP00000264444:R91X	R	+	1	2	MXD1	70016054	0.028000	0.19301	0.982000	0.44146	0.980000	0.70556	0.220000	0.17660	1.514000	0.48869	0.555000	0.69702	CGA		0.448	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357	
PCBP1	5093	broad.mit.edu	37	2	70314922	70314922	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:70314922T>A	ENST00000303577.5	+	1	338	c.47T>A	c.(46-48)aTt>aAt	p.I16N	PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000444320.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	16	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I16N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ACTCTCACCATTCGGCTTCTT	0.562																																					p.I16N	Colon(85;1146 1307 3484 18706 25380)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T47A	2						.						101.0	102.0	102.0					2																	70314922		2203	4300	6503	70168426	SO:0001583	missense	5093	exon1				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.47T>A	2.37:g.70314922T>A	ENSP00000305556:p.Ile16Asn		70168426	NM_006196	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770039	0.69992	.	.	ENSG00000169564	ENST00000303577	T	0.32753	1.44	4.03	4.03	0.46877	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.91510	3.215	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.69628	-0.5094	10	0.87932	D	0	.	11.6121	0.51066	0.0:0.0:0.0:1.0	.	16	Q15365	PCBP1_HUMAN	N	16	ENSP00000305556:I16N	ENSP00000305556:I16N	I	+	2	0	PCBP1	70168426	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.788000	0.69020	2.066000	0.61787	0.529000	0.55759	ATT		0.562	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196	
TIA1	7072	broad.mit.edu	37	2	70443341	70443341	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:70443341G>A	ENST00000433529.2	-	10	973	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Splice_Site_p.R244C|TIA1_ENST00000282574.4_Splice_Site_p.R255W|TIA1_ENST00000415783.2_Splice_Site_p.R244W|TIA1_ENST00000482876.1_5'UTR	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.R255W(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CATCCCTACCGAACAAATGAA	0.284																																					p.R244W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	2						.						33.0	32.0	33.0					2																	70443341		2203	4297	6500	70296845	SO:0001630	splice_region_variant	7072	exon9				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.764+1C>T	2.37:g.70443341G>A			70296845	NM_022037	Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	CCDS1901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.87|16.87	3.243330|3.243330	0.58995|0.58995	.|.	.|.	ENSG00000116001|ENSG00000116001	ENST00000445587|ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T|T;T;T;T	0.17370|0.17370	2.28|2.28;2.28;2.28;2.28	5.22|5.22	4.33|4.33	0.51752|0.51752	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.168057|0.168057	0.53938|0.53938	D|D	0.000059|0.000059	T|T	0.42787|0.42787	0.1218|0.1218	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.44802|0.44802	-0.9304|-0.9304	8|10	0.87932|0.66056	D|D	0|0.02	-20.7668|-20.7668	13.9211|13.9211	0.63933|0.63933	0.0:0.0:0.8465:0.1535|0.0:0.0:0.8465:0.1535	.|.	.|244;255	.|P31483-2;P31483	.|.;TIA1_HUMAN	C|W	244|255;244;333;255;26	ENSP00000399567:R244C|ENSP00000401371:R255W;ENSP00000404023:R244W;ENSP00000282574:R255W;ENSP00000402263:R26W	ENSP00000399567:R244C|ENSP00000282574:R255W	R|R	-|-	1|1	0|2	TIA1|TIA1	70296845|70296845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.697000|0.697000	0.40408|0.40408	2.368000|2.368000	0.44222|0.44222	1.404000|1.404000	0.46819|0.46819	0.491000|0.491000	0.48974|0.48974	CGT|CGG		0.284	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037	Missense_Mutation
CD207	50489	broad.mit.edu	37	2	71060161	71060161	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71060161G>T	ENST00000410009.3	-	4	632	c.587C>A	c.(586-588)tCt>tAt	p.S196Y		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	196					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)	p.S196Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CCAGCCTTGAGAAACCACCTG	0.448																																					p.S196Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587A	2						.						69.0	66.0	67.0					2																	71060161		1877	4111	5988	70913669	SO:0001583	missense	50489	exon4			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.587C>A	2.37:g.71060161G>T	ENSP00000386378:p.Ser196Tyr		70913669	NM_015717		Missense_Mutation	SNP	ENST00000410009.3	37		.	.	.	.	.	.	.	.	.	.	G	0.030	-1.343279	0.01277	.	.	ENSG00000116031	ENST00000410009	T	0.18016	2.24	5.35	2.47	0.30058	C-type lectin fold (1);C-type lectin (1);	0.274240	0.26450	N	0.024308	T	0.16041	0.0386	M	0.65975	2.015	0.09310	N	1	B	0.29085	0.232	B	0.24006	0.05	T	0.19063	-1.0317	10	0.62326	D	0.03	.	5.5051	0.16850	0.1767:0.0:0.6608:0.1625	.	196	Q9UJ71	CLC4K_HUMAN	Y	196	ENSP00000386378:S196Y	ENSP00000386378:S196Y	S	-	2	0	CD207	70913669	0.384000	0.25164	0.360000	0.25837	0.733000	0.41908	2.269000	0.43346	0.717000	0.32145	0.655000	0.94253	TCT		0.448	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
VAX2	25806	broad.mit.edu	37	2	71159962	71159962	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71159962G>A	ENST00000234392.2	+	3	533	c.501G>A	c.(499-501)aaG>aaA	p.K167K	snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	167					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K167K(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACCTGGAGAAGCGGGCGTCCT	0.647																																					p.K167K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G501A	2						.						43.0	47.0	46.0					2																	71159962		2203	4300	6503	71013470	SO:0001819	synonymous_variant	25806	exon3			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.501G>A	2.37:g.71159962G>A			71013470	NM_012476	Q53Y33	Silent	SNP	ENST00000234392.2	37	CCDS1911.1																																																																																				0.647	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1		
ANKRD53	79998	broad.mit.edu	37	2	71211329	71211329	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71211329C>A	ENST00000360589.3	+	6	937				ANKRD53_ENST00000441349.1_Missense_Mutation_p.S238Y|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.S327Y|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53									p.S327Y(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGACATTTCTCTACTATCA	0.483																																					p.S327Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C980A	2						.						144.0	133.0	137.0					2																	71211329		2203	4300	6503	71064837	SO:0001627	intron_variant	79998	exon6			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.904-412C>A	2.37:g.71211329C>A			71064837	NM_024933	Q8IYP8	Intron	SNP	ENST00000360589.3	37	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067224	0.36470	.	.	ENSG00000144031	ENST00000272421;ENST00000441349	T;T	0.74632	-0.59;-0.86	3.96	3.96	0.45880	.	.	.	.	.	D	0.82889	0.5135	.	.	.	0.52501	D	0.999951	D;D	0.76494	0.998;0.999	P;D	0.64237	0.84;0.923	D	0.83994	0.0339	8	0.59425	D	0.04	.	11.7906	0.52068	0.0:1.0:0.0:0.0	.	238;327	C9JQK2;Q8N9V6-2	.;.	Y	327;238	ENSP00000272421:S327Y;ENSP00000388883:S238Y	ENSP00000272421:S327Y	S	+	2	0	ANKRD53	71064837	0.003000	0.15002	0.071000	0.20095	0.008000	0.06430	0.290000	0.18975	2.499000	0.84300	0.563000	0.77884	TCT		0.483	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933	
MCEE	84693	broad.mit.edu	37	2	71351592	71351592	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71351592G>T	ENST00000244217.5	-	2	139	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	AC007881.1_ENST00000578636.1_RNA	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	41					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)	p.S41Y(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTTCCACACAGAACCTGTCAC	0.468																																					p.S41Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122A	2						.						114.0	123.0	120.0					2																	71351592		2203	4300	6503	71205100	SO:0001583	missense	84693	exon2			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.122C>A	2.37:g.71351592G>T	ENSP00000244217:p.Ser41Tyr		71205100	NM_032601	Q53TP1|Q8WW63	Missense_Mutation	SNP	ENST00000244217.5	37	CCDS1915.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185660	0.38609	.	.	ENSG00000124370	ENST00000244217	T	0.65549	-0.16	5.33	1.25	0.21368	.	0.769218	0.12686	N	0.447558	T	0.44912	0.1316	L	0.39898	1.24	0.09310	N	1	P	0.47604	0.898	B	0.36766	0.232	T	0.32375	-0.9909	10	0.52906	T	0.07	-5.5935	5.3569	0.16065	0.0767:0.244:0.5446:0.1347	.	41	Q96PE7	MCEE_HUMAN	Y	41	ENSP00000244217:S41Y	ENSP00000244217:S41Y	S	-	2	0	MCEE	71205100	0.999000	0.42202	0.000000	0.03702	0.032000	0.12392	3.710000	0.54860	0.018000	0.15052	0.650000	0.86243	TCT		0.468	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251917.3	NM_032601	
ZNF638	27332	broad.mit.edu	37	2	71650056	71650056	+	Nonsense_Mutation	SNP	G	G	T	rs4130106		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71650056G>T	ENST00000409544.1	+	22	4042	c.3412G>T	c.(3412-3414)Gaa>Taa	p.E1138*	ZNF638_ENST00000409407.1_Nonsense_Mutation_p.E78*|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.E1138*|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1138	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1138*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATTCAAACAGAAACTTTGGT	0.413																																					p.E1138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3412T	2						.						97.0	95.0	96.0					2																	71650056		2203	4300	6503	71503564	SO:0001587	stop_gained	27332	exon22			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3412G>T	2.37:g.71650056G>T	ENSP00000386433:p.Glu1138*		71503564	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Nonsense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	46	12.665327	0.99687	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	.	.	.	5.54	4.65	0.58169	.	0.104719	0.42682	D	0.000678	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.6596	9.6204	0.39719	0.0933:0.0:0.9067:0.0	.	.	.	.	X	717;1138;1138;78;78	.	ENSP00000264447:E1138X	E	+	1	0	ZNF638	71503564	0.999000	0.42202	0.995000	0.50966	0.342000	0.28953	3.465000	0.53064	2.764000	0.94973	0.655000	0.94253	GAA		0.413	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ZNF638	27332	broad.mit.edu	37	2	71650501	71650501	+	Missense_Mutation	SNP	G	G	A	rs370324872		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71650501G>A	ENST00000409544.1	+	22	4487	c.3857G>A	c.(3856-3858)gGa>gAa	p.G1286E	ZNF638_ENST00000409407.1_Missense_Mutation_p.G226E|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1286E|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1286	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G1286E(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTAGTACCAGGAATTCCCACT	0.363																																					p.G1286E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3857A	2						.						51.0	53.0	53.0					2																	71650501		2203	4298	6501	71504009	SO:0001583	missense	27332	exon22			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3857G>A	2.37:g.71650501G>A	ENSP00000386433:p.Gly1286Glu		71504009	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253349	0.10185	.	.	ENSG00000075292	ENST00000394137;ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.33438	1.45;1.45;1.41	5.49	2.74	0.32292	.	0.499782	0.20538	N	0.090368	T	0.22166	0.0534	L	0.34521	1.04	0.09310	N	0.999998	B;B;P	0.48589	0.044;0.01;0.912	B;B;P	0.47673	0.021;0.012;0.554	T	0.10636	-1.0621	10	0.05351	T	0.99	-2.8481	7.9263	0.29876	0.2482:0.0:0.7518:0.0	.	1286;1286;1286	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	E	865;1286;1286;226;226	ENSP00000264447:G1286E;ENSP00000386433:G1286E;ENSP00000386813:G226E	ENSP00000264447:G1286E	G	+	2	0	ZNF638	71504009	0.029000	0.19370	0.002000	0.10522	0.005000	0.04900	0.766000	0.26560	0.381000	0.24851	-0.251000	0.11542	GGA		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
ZNF638	27332	broad.mit.edu	37	2	71654054	71654054	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71654054A>G	ENST00000409544.1	+	24	5685	c.5055A>G	c.(5053-5055)gaA>gaG	p.E1685E	ZNF638_ENST00000409407.1_Silent_p.E625E|ZNF638_ENST00000264447.4_Silent_p.E1685E|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1685					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1685E(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTGGATGAAATTGGAGAAG	0.403																																					p.E1685E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5055G	2						.						101.0	102.0	102.0					2																	71654054		2203	4300	6503	71507562	SO:0001819	synonymous_variant	27332	exon24			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5055A>G	2.37:g.71654054A>G			71507562	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	CCDS1917.1																																																																																				0.403	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
DYSF	8291	broad.mit.edu	37	2	71883306	71883306	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71883306G>T	ENST00000258104.3	+	42	4801	c.4524G>T	c.(4522-4524)caG>caT	p.Q1508H	DYSF_ENST00000409744.1_Missense_Mutation_p.Q1516H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q1546H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q1525H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q1547H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.Q1509H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q1529H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q1540H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q1526H|DYSF_ENST00000413539.2_Missense_Mutation_p.Q1539H|DYSF_ENST00000409366.1_Missense_Mutation_p.Q1530H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1508					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.Q1508H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGACACACAGCTGGAGAATG	0.502																																					p.Q1540H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4620T	2						.						160.0	160.0	160.0					2																	71883306		2203	4300	6503	71736814	SO:0001583	missense	8291	exon43			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4524G>T	2.37:g.71883306G>T	ENSP00000258104:p.Gln1508His		71736814	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750327	0.49257	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.64;-1.64;-1.65;-1.65;-1.65;-1.64;-1.64;-1.64;-1.65	5.54	-4.15	0.03881	.	0.644414	0.16613	N	0.206840	T	0.72645	0.3486	N	0.22421	0.69	0.27733	N	0.944741	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29253	0.239;0.238;0.238;0.238;0.238;0.13;0.13;0.13;0.065;0.238;0.065;0.065;0.143;0.238;0.153	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38264	0.212;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.269;0.139	T	0.66060	-0.6017	10	0.66056	D	0.02	-0.0742	11.5042	0.50456	0.1735:0.1218:0.7048:0.0	.	272;1540;1547;1530;1495;1526;1516;1525;1515;1539;1546;1529;1494;1509;1508	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1539;1525;1546;1529;1508;1540;1509;1516;1530;1547;1526	ENSP00000407046:Q1539H;ENSP00000387137:Q1525H;ENSP00000386547:Q1546H;ENSP00000398305:Q1529H;ENSP00000258104:Q1508H;ENSP00000386683:Q1540H;ENSP00000377678:Q1509H;ENSP00000386285:Q1516H;ENSP00000386512:Q1530H;ENSP00000386881:Q1547H;ENSP00000386617:Q1526H	ENSP00000258104:Q1508H	Q	+	3	2	DYSF	71736814	0.988000	0.35896	0.443000	0.26883	0.994000	0.84299	0.328000	0.19681	-0.760000	0.04677	-0.290000	0.09829	CAG		0.502	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
DYSF	8291	broad.mit.edu	37	2	71896785	71896785	+	Missense_Mutation	SNP	G	G	A	rs143939123	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:71896785G>A	ENST00000258104.3	+	50	5853	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1859	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.R1859H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGCATTATCGTTCCCTGGGA	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		23536	0.0		0.0	False		,,,				2504	0.0				p.R1891H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5672A	2						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	219.0	182.0	194.0		5579,5534,5597,5639,5669,5627,5690,5672,5642,5600,5630,5537,5693,5576	4.9	1.0	2	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1860/2082,1845/2067,1866/2088,1880/2102,1890/2112,1876/2098,1897/2119,1891/2113,1881/2103,1867/2089,1877/2099,1846/2068,1898/2120,1859/2081	71896785	1,13005	2203	4300	6503	71750293	SO:0001583	missense	8291	exon51			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5576G>A	2.37:g.71896785G>A	ENSP00000258104:p.Arg1859His		71750293	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831448	0.91036	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.098372	0.64402	D	0.000003	D	0.95294	0.8473	M	0.84433	2.695	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;0.999;0.999;0.996;0.996;1.0;1.0;1.0;0.977;0.999;0.973;0.614;0.996;0.996;0.999	D;P;D;P;P;D;D;D;P;D;P;B;P;P;D	0.72338	0.967;0.897;0.91;0.897;0.852;0.977;0.977;0.977;0.476;0.938;0.606;0.228;0.897;0.897;0.938	D	0.94569	0.7769	10	0.40728	T	0.16	-26.1585	15.8904	0.79293	0.0:0.0:1.0:0.0	.	623;1891;1898;1881;1846;1877;1867;1876;1866;1890;1897;1880;1845;1860;1859	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1890;1876;1897;1880;1859;1891;1860;1867;1881;1898;1877	ENSP00000407046:R1890H;ENSP00000387137:R1876H;ENSP00000386547:R1897H;ENSP00000398305:R1880H;ENSP00000258104:R1859H;ENSP00000386683:R1891H;ENSP00000377678:R1860H;ENSP00000386285:R1867H;ENSP00000386512:R1881H;ENSP00000386881:R1898H;ENSP00000386617:R1877H	ENSP00000258104:R1859H	R	+	2	0	DYSF	71750293	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	9.492000	0.97957	2.698000	0.92095	0.655000	0.94253	CGT		0.438	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
EXOC6B	23233	broad.mit.edu	37	2	72742224	72742224	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:72742224C>T	ENST00000272427.6	-	9	1077	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R316Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	316					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.R316Q(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CCTCTGTTTTCGGTAGTAATT	0.383																																					p.R316Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947A	2						.						76.0	77.0	77.0					2																	72742224		1860	4096	5956	72595732	SO:0001583	missense	23233	exon9			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.947G>A	2.37:g.72742224C>T	ENSP00000272427:p.Arg316Gln		72595732	NM_015189	B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538349	0.96460	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.32272	1.46;1.46	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.78314	0.921;0.991	T	0.62081	-0.6929	10	0.33940	T	0.23	.	17.0845	0.86608	0.0:1.0:0.0:0.0	.	316;316	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	316	ENSP00000272427:R316Q;ENSP00000386698:R316Q	ENSP00000272427:R316Q	R	-	2	0	EXOC6B	72595732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.513000	0.81739	2.601000	0.87937	0.650000	0.86243	CGA		0.383	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570	
SFXN5	94097	broad.mit.edu	37	2	73215392	73215392	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73215392G>T	ENST00000272433.2	-	10	750	c.620C>A	c.(619-621)gCt>gAt	p.A207D	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.A207D	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	207					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)	p.A207D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTTACCTACAGCAGGGAACGG	0.557																																					p.A207D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620A	2						.						111.0	96.0	101.0					2																	73215392		2203	4300	6503	73068900	SO:0001583	missense	94097	exon10			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.620C>A	2.37:g.73215392G>T	ENSP00000272433:p.Ala207Asp		73068900	NM_144579	A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	CCDS1922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943420|4.943420	0.92593|0.92593	.|.	.|.	ENSG00000144040|ENSG00000144040	ENST00000272433;ENST00000410065|ENST00000411783	T;T|.	0.55760|.	0.5;0.5|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.105878|.	0.64402|.	D|.	0.000005|.	D|.	0.87350|.	0.6155|.	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.956|.	D|.	0.90733|.	0.4644|.	10|.	0.87932|.	D|.	0|.	-14.892|-14.892	17.0322|17.0322	0.86464|0.86464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	207;207|.	B8ZZJ6;Q8TD22|.	.;SFXN5_HUMAN|.	D|X	207|196	ENSP00000272433:A207D;ENSP00000387076:A207D|.	ENSP00000272433:A207D|.	A|C	-|-	2|3	0|2	SFXN5|SFXN5	73068900|73068900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.946000|7.946000	0.87746|0.87746	2.699000|2.699000	0.92147|0.92147	0.591000|0.591000	0.81541|0.81541	GCT|TGC		0.557	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579	
SMYD5	10322	broad.mit.edu	37	2	73452017	73452017	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73452017G>T	ENST00000389501.4	+	11	1009	c.964G>T	c.(964-966)Gca>Tca	p.A322S		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	322	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A206S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGTGCCCAATGCAGAGACCTC	0.483																																					p.A322S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G964T	2						.						128.0	110.0	116.0					2																	73452017		2203	4300	6503	73305525	SO:0001583	missense	10322	exon11			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.964G>T	2.37:g.73452017G>T	ENSP00000374152:p.Ala322Ser		73305525	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	G	31	5.096453	0.94197	.	.	ENSG00000135632	ENST00000389501	D	0.83075	-1.68	5.06	5.06	0.68205	SET domain (3);	0.051795	0.85682	D	0.000000	D	0.90407	0.6997	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.90686	0.4609	10	0.56958	D	0.05	-9.555	17.5337	0.87822	0.0:0.0:1.0:0.0	.	322	Q6GMV2	SMYD5_HUMAN	S	322	ENSP00000374152:A322S	ENSP00000374152:A322S	A	+	1	0	SMYD5	73305525	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.542000	0.98086	2.813000	0.96785	0.655000	0.94253	GCA		0.483	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
SMYD5	10322	broad.mit.edu	37	2	73452805	73452805	+	Missense_Mutation	SNP	G	G	A	rs139106271		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73452805G>A	ENST00000389501.4	+	12	1127	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	361							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R245H(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAGCGCAGCCGCCACAGCCGC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14647	0.0		0.0	False		,,,				2504	0.0				p.R361H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1082A	2						.	G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	87.0	104.0	98.0		1082	4.9	1.0	2	dbSNP_134	98	0,8600		0,0,4300	yes	missense	SMYD5	NM_006062.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	361/419	73452805	3,13003	2203	4300	6503	73306313	SO:0001583	missense	10322	exon12			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1082G>A	2.37:g.73452805G>A	ENSP00000374152:p.Arg361His		73306313	NM_006062	D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	CCDS33221.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.337107	0.95758	6.81E-4	0.0	ENSG00000135632	ENST00000389501	T	0.56611	0.45	4.86	4.86	0.63082	.	0.060009	0.64402	D	0.000004	T	0.63390	0.2507	M	0.78456	2.415	0.80722	D	1	D	0.65815	0.995	P	0.51945	0.685	T	0.61004	-0.7150	10	0.16896	T	0.51	-10.7965	17.0836	0.86604	0.0:0.0:1.0:0.0	.	361	Q6GMV2	SMYD5_HUMAN	H	361	ENSP00000374152:R361H	ENSP00000374152:R361H	R	+	2	0	SMYD5	73306313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.516000	0.98017	2.704000	0.92352	0.655000	0.94253	CGC		0.562	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062	
ALMS1	7840	broad.mit.edu	37	2	73679174	73679174	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73679174G>A	ENST00000264448.6	+	8	5628	c.5517G>A	c.(5515-5517)aaG>aaA	p.K1839K	ALMS1_ENST00000377715.1_Silent_p.K1839K|ALMS1_ENST00000409009.1_Silent_p.K1797K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1839	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K1839K(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGACCAGAAGACTGGAATAA	0.448																																					p.K1839K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5517A	2						.						82.0	78.0	79.0					2																	73679174		1845	4099	5944	73532682	SO:0001819	synonymous_variant	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5517G>A	2.37:g.73679174G>A			73532682	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73680193	73680193	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73680193G>T	ENST00000264448.6	+	8	6647	c.6536G>T	c.(6535-6537)gGa>gTa	p.G2179V	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2179V|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2137V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2179	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G2179V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAATTACCGGATTACAAACA	0.378																																					p.G2179V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6536T	2						.						83.0	77.0	79.0					2																	73680193		1870	4101	5971	73533701	SO:0001583	missense	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6536G>T	2.37:g.73680193G>T	ENSP00000264448:p.Gly2179Val		73533701	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	2.943	-0.218557	0.06101	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17054	3.17;3.17;2.3	5.46	0.112	0.14623	.	0.602091	0.14982	N	0.287172	T	0.10981	0.0268	N	0.25890	0.77	0.19300	N	0.99997	B;B;B	0.32302	0.078;0.242;0.363	B;B;B	0.36378	0.069;0.161;0.223	T	0.23940	-1.0174	10	0.66056	D	0.02	.	3.7002	0.08379	0.2802:0.0:0.3166:0.4032	.	2179;2137;2179	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	V	2137;2179;2179	ENSP00000386627:G2137V;ENSP00000264448:G2179V;ENSP00000366944:G2179V	ENSP00000264448:G2179V	G	+	2	0	ALMS1	73533701	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.057000	0.11768	-0.112000	0.11979	-0.140000	0.14226	GGA		0.378	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73716882	73716882	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73716882G>T	ENST00000264448.6	+	10	7904	c.7793G>T	c.(7792-7794)aGa>aTa	p.R2598I	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2556I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2598					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R2598I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTAGATAGACACCCTTGT	0.468																																					p.R2598I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7793T	2						.						92.0	89.0	90.0					2																	73716882		1941	4129	6070	73570390	SO:0001583	missense	7840	exon10			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7793G>T	2.37:g.73716882G>T	ENSP00000264448:p.Arg2598Ile		73570390	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117555	0.08881	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06371	3.31;3.31	4.45	0.611	0.17586	.	1.013620	0.07890	N	0.971091	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43940	-0.9360	10	0.72032	D	0.01	.	3.7056	0.08400	0.3065:0.187:0.5065:0.0	.	2598;2556;2598	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2556;2598	ENSP00000386627:R2556I;ENSP00000264448:R2598I	ENSP00000264448:R2598I	R	+	2	0	ALMS1	73570390	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.352000	0.20113	0.091000	0.17302	0.650000	0.86243	AGA		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73718420	73718420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73718420G>T	ENST00000264448.6	+	10	9442	c.9331G>T	c.(9331-9333)Gaa>Taa	p.E3111*	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E3069*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3111					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E3111*(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGGATCAAGAATCTTTAGG	0.388																																					p.E3111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9331T	2						.						101.0	96.0	97.0					2																	73718420		1861	4094	5955	73571928	SO:0001587	stop_gained	7840	exon10			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9331G>T	2.37:g.73718420G>T	ENSP00000264448:p.Glu3111*		73571928	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	51	17.391595	0.99885	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.12	4.12	0.48240	.	0.000000	0.47093	D	0.000248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.1941	0.54288	0.0:0.0:1.0:0.0	.	.	.	.	X	3069;3111	.	ENSP00000264448:E3111X	E	+	1	0	ALMS1	73571928	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.534000	0.36051	2.617000	0.88574	0.580000	0.79431	GAA		0.388	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73829360	73829360	+	Missense_Mutation	SNP	C	C	T	rs569696567		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73829360C>T	ENST00000264448.6	+	20	12271	c.12160C>T	c.(12160-12162)Cgg>Tgg	p.R4054W	ALMS1_ENST00000409009.1_Missense_Mutation_p.R4012W|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4054	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R4054W(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTGGGGAGCGGATAAAGCG	0.478																																					p.R4054W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12160T	2						.						47.0	52.0	50.0					2																	73829360		2202	4300	6502	73682868	SO:0001583	missense	7840	exon20			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12160C>T	2.37:g.73829360C>T	ENSP00000264448:p.Arg4054Trp		73682868	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940292	0.73557	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.33865	1.39;1.39	5.38	3.53	0.40419	.	0.000000	0.64402	D	0.000003	T	0.50633	0.1627	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.50346	-0.8839	10	0.87932	D	0	.	11.3515	0.49589	0.4817:0.5183:0.0:0.0	.	4012;4054	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	W	4012;4054	ENSP00000386627:R4012W;ENSP00000264448:R4054W	ENSP00000264448:R4054W	R	+	1	2	ALMS1	73682868	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.533000	0.36040	0.779000	0.33543	0.655000	0.94253	CGG		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
DUSP11	8446	broad.mit.edu	37	2	73993721	73993721	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73993721C>A	ENST00000272444.3	-	8	800	c.759G>T	c.(757-759)aaG>aaT	p.K253N	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	206					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.K206N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						AATTCCAATTCCTTAAAGAGA	0.348																																					p.K253N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G759T	2						.						82.0	84.0	84.0					2																	73993721		2203	4300	6503	73847229	SO:0001630	splice_region_variant	8446	exon8			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.759-1G>T	2.37:g.73993721C>A			73847229	NM_003584	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260412	0.23051	.	.	ENSG00000144048	ENST00000272444	.	.	.	4.82	3.93	0.45458	.	0.386777	0.30949	N	0.008560	T	0.45074	0.1324	L	0.56769	1.78	0.58432	D	0.999997	P	0.44627	0.839	B	0.38106	0.265	T	0.45366	-0.9266	9	0.45353	T	0.12	.	9.4518	0.38731	0.0:0.9019:0.0:0.0981	.	206	O75319	DUS11_HUMAN	N	253	.	ENSP00000272444:K253N	K	-	3	2	DUSP11	73847229	0.988000	0.35896	0.351000	0.25721	0.206000	0.24218	1.784000	0.38674	1.376000	0.46267	0.563000	0.77884	AAG		0.348	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3		Missense_Mutation
DUSP11	8446	broad.mit.edu	37	2	73996446	73996446	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:73996446A>C	ENST00000272444.3	-	5	622	c.581T>G	c.(580-582)cTt>cGt	p.L194R	DUSP11_ENST00000377706.4_Missense_Mutation_p.L147R|DUSP11_ENST00000443070.1_Missense_Mutation_p.L194R|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	147	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.L147R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GACACCAATAAGTTTATCTAT	0.363																																					p.L194R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T581G	2						.						83.0	86.0	85.0					2																	73996446		2203	4300	6503	73849954	SO:0001583	missense	8446	exon5			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.581T>G	2.37:g.73996446A>C	ENSP00000272444:p.Leu194Arg		73849954	NM_003584	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923681	0.73213	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706	D;D;D	0.84873	-1.91;-1.91;-1.91	4.8	4.8	0.61643	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.99	D	0.93234	0.6620	10	0.72032	D	0.01	-9.0045	12.6347	0.56677	1.0:0.0:0.0:0.0	.	194;147	C9JYA6;O75319	.;DUS11_HUMAN	R	194;194;147	ENSP00000272444:L194R;ENSP00000413444:L194R;ENSP00000366935:L147R	ENSP00000272444:L194R	L	-	2	0	DUSP11	73849954	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.927000	0.75840	2.144000	0.66660	0.528000	0.53228	CTT		0.363	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3		
DUSP11	8446	broad.mit.edu	37	2	74000985	74000985	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74000985C>A	ENST00000272444.3	-	4	557	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DUSP11_ENST00000377706.4_Missense_Mutation_p.E125D|DUSP11_ENST00000443070.1_Missense_Mutation_p.E172D|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	125	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.E125D(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAAAATAGTCTCATCATCAG	0.308																																					p.E172D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G516T	2						.						98.0	107.0	104.0					2																	74000985		2203	4299	6502	73854493	SO:0001583	missense	8446	exon4			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.516G>T	2.37:g.74000985C>A	ENSP00000272444:p.Glu172Asp		73854493	NM_003584	B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059747	0.19987	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	D;D;D	0.85484	-1.99;-1.99;-1.99	4.95	1.85	0.25348	Dual specificity phosphatase, catalytic domain (1);	0.679638	0.14418	N	0.320843	T	0.68869	0.3048	N	0.20401	0.57	0.32517	N	0.536784	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.002	T	0.58896	-0.7555	10	0.05833	T	0.94	-0.0053	7.9804	0.30181	0.0:0.1491:0.3399:0.511	.	172;125	C9JYA6;O75319	.;DUS11_HUMAN	D	172;172;125;123	ENSP00000272444:E172D;ENSP00000413444:E172D;ENSP00000366935:E125D	ENSP00000272444:E172D	E	-	3	2	DUSP11	73854493	0.002000	0.14202	0.993000	0.49108	0.695000	0.40330	-0.457000	0.06745	0.237000	0.21200	-0.165000	0.13383	GAG		0.308	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3		
C2orf78	388960	broad.mit.edu	37	2	74043283	74043283	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74043283G>A	ENST00000409561.1	+	3	2054	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	645								p.D615N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAAAAGATCGATATGAAAAC	0.507																																					p.D645N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1933A	2						.						55.0	56.0	55.0					2																	74043283		1872	4101	5973	73896791	SO:0001583	missense	388960	exon3			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1933G>A	2.37:g.74043283G>A	ENSP00000387124:p.Asp645Asn		73896791	NM_001080474		Missense_Mutation	SNP	ENST00000409561.1	37	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105067	0.37145	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.48522	0.81	4.9	2.96	0.34315	.	0.602207	0.14612	N	0.308955	T	0.59032	0.2164	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.62649	0.905	T	0.46233	-0.9206	10	0.62326	D	0.03	-5.4529	6.307	0.21145	0.1011:0.187:0.7119:0.0	.	645	A6NCI8	CB078_HUMAN	N	645;615	ENSP00000387124:D645N	ENSP00000340692:D615N	D	+	1	0	C2orf78	73896791	0.297000	0.24408	0.014000	0.15608	0.000000	0.00434	2.360000	0.44151	1.209000	0.43321	-0.251000	0.11542	GAT		0.507	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474	
TET3	200424	broad.mit.edu	37	2	74328397	74328397	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74328397C>T	ENST00000409262.3	+	9	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1359					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.P636P(1)|p.P1359P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657																																					p.P1359P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4077T	2						.						20.0	24.0	23.0					2																	74328397		1890	4105	5995	74181905	SO:0001819	synonymous_variant	200424	exon9				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4077C>T	2.37:g.74328397C>T			74181905	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	CCDS46339.1																																																																																				0.657	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
BOLA3	388962	broad.mit.edu	37	2	74362773	74362773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74362773C>A	ENST00000327428.5	-	4	390	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	BOLA3_ENST00000295326.4_Missense_Mutation_p.R61I	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	91						extracellular region (GO:0005576)		p.E91*(1)		large_intestine(1)|lung(1)	2						TCTTTGATTTCTTCTTTTAGT	0.413																																					p.E91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G271T	2						.						207.0	178.0	188.0					2																	74362773		2203	4300	6503	74216281	SO:0001587	stop_gained	388962	exon4			BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"""bolA-like 3 (E. coli)"", ""bolA homolog 3 (E. coli)"""			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.271G>T	2.37:g.74362773C>A	ENSP00000331369:p.Glu91*		74216281	NM_212552	G3XAB0	Nonsense_Mutation	SNP	ENST00000327428.5	37	CCDS33225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.565259|5.565259	0.96527|0.96527	.|.	.|.	ENSG00000163170|ENSG00000163170	ENST00000327428|ENST00000295326	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79251	.|0.4414	.|.	.|.	.|.	0.46096|0.46096	D|D	0.998865|0.998865	.|D	.|0.76494	.|0.999	.|D	.|0.74023	.|0.982	.|T	.|0.81413	.|-0.0944	.|7	0.62326|0.87932	D|D	0.03|0	-14.6026|-14.6026	16.3832|16.3832	0.83489|0.83489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|61	.|G3XAB0	.|.	X|I	91|61	.|.	ENSP00000331369:E91X|ENSP00000295326:R61I	E|R	-|-	1|2	0|0	BOLA3|BOLA3	74216281|74216281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.594000|5.594000	0.67557|0.67557	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.413	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328207.2	NM_212552	
MOB1A	55233	broad.mit.edu	37	2	74394224	74394224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74394224G>T	ENST00000396049.4	-	3	385	c.192C>A	c.(190-192)ttC>ttA	p.F64L	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.F64L	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	64					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)	p.F64L(1)									TCTGGTTAAAGAAATCCACAG	0.383																																					p.F64L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C192A	2						.						100.0	98.0	99.0					2																	74394224		1875	4140	6015	74247732	SO:0001583	missense	55233	exon3				CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.192C>A	2.37:g.74394224G>T	ENSP00000379364:p.Phe64Leu		74247732	NM_018221	Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	ENST00000396049.4	37	CCDS46340.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342679	0.82022	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	5.12	4.23	0.50019	.	0.106928	0.64402	D	0.000004	T	0.78566	0.4303	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.80476	-0.1366	9	0.62326	D	0.03	.	11.7436	0.51807	0.0874:0.0:0.9126:0.0	.	64;64	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	L	64	.	ENSP00000379364:F64L	F	-	3	2	MOBKL1B	74247732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.182000	0.50910	2.652000	0.90054	0.650000	0.86243	TTC		0.383	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328200.2	NM_018221	
DCTN1	1639	broad.mit.edu	37	2	74589243	74589243	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74589243G>T	ENST00000361874.3	-	31	3952	c.3635C>A	c.(3634-3636)tCt>tAt	p.S1212Y	DCTN1_ENST00000409438.1_Missense_Mutation_p.S1073Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.S1170Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.S1190Y|RP11-287D1.3_ENST00000451608.2_Missense_Mutation_p.S125Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.S1205Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.S1187Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.S1078Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1212					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.S1212Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGGCGCTGAGATACTGTCTC	0.572																																					p.S1078Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3233A	2						.						112.0	92.0	99.0					2																	74589243		2203	4300	6503	74442751	SO:0001583	missense	1639	exon26				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3635C>A	2.37:g.74589243G>T	ENSP00000354791:p.Ser1212Tyr		74442751	NM_023019	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615998	0.46631	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78816	-0.78;-0.97;-0.79;-0.79;-1.21;-0.97;-0.99	5.24	4.36	0.52297	.	0.177801	0.27240	N	0.020274	T	0.63581	0.2523	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P;P;B	0.43633	0.61;0.61;0.553;0.813;0.573;0.681;0.108	B;B;B;B;B;B;B	0.40009	0.086;0.125;0.102;0.316;0.23;0.206;0.026	T	0.59568	-0.7430	10	0.72032	D	0.01	-2.8228	9.6494	0.39888	0.1689:0.0:0.8311:0.0	.	1187;1170;1212;1205;1078;1073;1195	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4;A8MWX9	.;.;DCTN1_HUMAN;.;.;.;.	Y	1212;1205;1195;1078;1073;1170;1190;1187	ENSP00000354791:S1212Y;ENSP00000377571:S1205Y;ENSP00000384844:S1078Y;ENSP00000387270:S1073Y;ENSP00000386406:S1170Y;ENSP00000387327:S1190Y;ENSP00000386843:S1187Y	ENSP00000354791:S1212Y	S	-	2	0	DCTN1	74442751	0.074000	0.21230	0.918000	0.36340	0.992000	0.81027	1.717000	0.37991	1.206000	0.43276	0.491000	0.48974	TCT		0.572	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
DCTN1	1639	broad.mit.edu	37	2	74595229	74595229	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74595229C>A	ENST00000361874.3	-	17	2201	c.1884G>T	c.(1882-1884)gaG>gaT	p.E628D	DCTN1_ENST00000409438.1_Missense_Mutation_p.E494D|DCTN1_ENST00000409240.1_Missense_Mutation_p.E591D|DCTN1_ENST00000409868.1_Missense_Mutation_p.E611D|DCTN1_ENST00000394003.3_Missense_Mutation_p.E621D|DCTN1_ENST00000409567.3_Missense_Mutation_p.E608D|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000407639.2_Missense_Mutation_p.E494D	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	628					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.E628D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTTCAAACTTCTCCTGGGCCT	0.562																																					p.E494D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1482T	2						.						27.0	27.0	27.0					2																	74595229		2202	4299	6501	74448737	SO:0001583	missense	1639	exon12				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1884G>T	2.37:g.74595229C>A	ENSP00000354791:p.Glu628Asp		74448737	NM_023019	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945312	0.53079	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.25	3.47	0.39725	.	0.000000	0.43747	D	0.000532	D	0.87597	0.6217	L	0.42744	1.35	0.58432	D	0.999999	B;P;D;B;B;D	0.63046	0.267;0.752;0.992;0.096;0.068;0.99	B;P;D;B;B;D	0.74348	0.216;0.485;0.983;0.147;0.048;0.971	D	0.85224	0.1028	10	0.38643	T	0.18	-12.3531	10.8657	0.46853	0.0:0.8448:0.0:0.1552	.	608;591;628;621;494;494	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	D	628;621;611;494;494;591;611;608	ENSP00000354791:E628D;ENSP00000377571:E621D;ENSP00000384844:E494D;ENSP00000387270:E494D;ENSP00000386406:E591D;ENSP00000387327:E611D;ENSP00000386843:E608D	ENSP00000354791:E628D	E	-	3	2	DCTN1	74448737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.528000	0.45624	0.791000	0.33826	-0.140000	0.14226	GAG		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
WDR54	84058	broad.mit.edu	37	2	74655826	74655826	+	IGR	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74655826A>G	ENST00000348227.4	+	0	1147				RTKN_ENST00000272430.5_Missense_Mutation_p.C297R|RTKN_ENST00000233330.6_Missense_Mutation_p.C247R|RTKN_ENST00000305557.5_Missense_Mutation_p.C284R	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54									p.C297R(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGACGGCAACACACGCTACCA	0.632																																					p.C247R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T739C	2						.						37.0	35.0	36.0					2																	74655826		2203	4300	6503	74509334	SO:0001628	intergenic_variant	6242	exon8			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74655826A>G			74509334	NM_001015056	D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457647	0.63401	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.37411	1.22;1.2;1.22	5.54	4.37	0.52481	.	0.100354	0.64402	D	0.000001	T	0.54727	0.1876	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53655	-0.8408	10	0.15499	T	0.54	.	10.9432	0.47285	0.8426:0.1574:0.0:0.0	.	297;284	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	R	284;297;247	ENSP00000305298:C284R;ENSP00000272430:C297R;ENSP00000233330:C247R	ENSP00000233330:C247R	C	-	1	0	RTKN	74509334	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	8.231000	0.89794	0.925000	0.37094	-0.316000	0.08728	TGT		0.632	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118	
RTKN	6242	broad.mit.edu	37	2	74655978	74655978	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74655978G>T	ENST00000233330.6	-	7	1014	c.697C>A	c.(697-699)Cat>Aat	p.H233N	RTKN_ENST00000272430.5_Missense_Mutation_p.H283N|RTKN_ENST00000305557.5_Missense_Mutation_p.H270N	NM_001015056.1	NP_001015056.1			rhotekin									p.H270N(1)|p.H283N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TACTTACCATGACTGGCAAGG	0.557																																					p.H233N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C697A	2						.						135.0	95.0	109.0					2																	74655978		2203	4300	6503	74509486	SO:0001583	missense	6242	exon7			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.697C>A	2.37:g.74655978G>T	ENSP00000233330:p.His233Asn		74509486	NM_001015056		Missense_Mutation	SNP	ENST00000233330.6	37	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366802	0.11352	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.26518	1.73;1.74;1.74	5.55	4.59	0.56863	.	0.306760	0.33477	N	0.004864	T	0.08492	0.0211	N	0.00960	-1.095	0.38149	D	0.938691	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21211	-1.0252	10	0.27785	T	0.31	.	10.2842	0.43558	0.0:0.0:0.6752:0.3248	.	283;270	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	N	270;283;233	ENSP00000305298:H270N;ENSP00000272430:H283N;ENSP00000233330:H233N	ENSP00000233330:H233N	H	-	1	0	RTKN	74509486	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.756000	0.62205	2.634000	0.89283	0.561000	0.74099	CAT		0.557	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055	
RTKN	6242	broad.mit.edu	37	2	74666701	74666701	+	Missense_Mutation	SNP	G	G	A	rs191801087		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74666701G>A	ENST00000305557.5	-	2	634	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	RTKN_ENST00000272430.5_Intron|RTKN_ENST00000233330.6_Intron|RTKN_ENST00000484453.1_Intron	NM_033046.2	NP_149035.1			rhotekin									p.R17W(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCATCTGCCGAATGTAGAGC	0.587																																					p.R17W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C49T	2						.						185.0	145.0	158.0					2																	74666701		2203	4300	6503	74520209	SO:0001583	missense	6242	exon2			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000305557.5:c.49C>T	2.37:g.74666701G>A	ENSP00000305298:p.Arg17Trp		74520209	NM_033046		Intron	SNP	ENST00000305557.5	37	CCDS1941.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.1	4.494945	0.85069	.	.	ENSG00000114993	ENST00000305557	T	0.38560	1.13	4.81	4.81	0.61882	.	.	.	.	.	T	0.65575	0.2704	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70204	-0.4936	8	0.87932	D	0	.	15.4186	0.74991	0.0:0.0:1.0:0.0	.	17	Q9BST9-2	.	W	17	ENSP00000305298:R17W	ENSP00000305298:R17W	R	-	1	2	RTKN	74520209	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.253000	0.65452	2.511000	0.84671	0.462000	0.41574	CGG		0.587	RTKN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252217.4	NM_001015055	
WBP1	23559	broad.mit.edu	37	2	74687164	74687164	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74687164C>T	ENST00000233615.2	+	3	611	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000393972.3_Silent_p.L147L|WBP1_ENST00000409737.1_Silent_p.L110L	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	113							WW domain binding (GO:0050699)	p.L113L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						TACCGGTTCACTGCTTGACCT	0.542																																					p.L113L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C337T	2						.						88.0	89.0	88.0					2																	74687164		2203	4300	6503	74540672	SO:0001819	synonymous_variant	23559	exon3			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.337C>T	2.37:g.74687164C>T			74540672	NM_012477	B2RE02|O95637	Silent	SNP	ENST00000233615.2	37	CCDS1943.1																																																																																				0.542	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	
MRPL53	116540	broad.mit.edu	37	2	74699728	74699728	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74699728G>T	ENST00000258105.7	-	1	721	c.60C>A	c.(58-60)ttC>ttA	p.F20L	MRPL53_ENST00000409710.1_Missense_Mutation_p.F20L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	20						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.F20L(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CGAAGGGACAGAACTGAACCC	0.597																																					p.F20L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C60A	2						.						110.0	98.0	102.0					2																	74699728		2203	4300	6503	74553236	SO:0001583	missense	116540	exon1			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.60C>A	2.37:g.74699728G>T	ENSP00000258105:p.Phe20Leu		74553236	NM_053050		Missense_Mutation	SNP	ENST00000258105.7	37	CCDS1944.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181002	0.57800	.	.	ENSG00000204822	ENST00000258105;ENST00000409710	T;T	0.66460	0.22;-0.21	5.2	1.43	0.22495	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.78637	2.42	0.80722	D	1	P	0.49783	0.928	P	0.56916	0.809	T	0.69495	-0.5130	10	0.72032	D	0.01	-32.0689	4.6231	0.12465	0.2572:0.1599:0.5829:0.0	.	20	Q96EL3	RM53_HUMAN	L	20	ENSP00000258105:F20L;ENSP00000386920:F20L	ENSP00000258105:F20L	F	-	3	2	MRPL53	74553236	1.000000	0.71417	0.979000	0.43373	0.010000	0.07245	0.424000	0.21330	0.078000	0.16900	-0.150000	0.13652	TTC		0.597	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050	
TTC31	64427	broad.mit.edu	37	2	74717830	74717830	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74717830G>T	ENST00000233623.5	+	5	517	c.510G>T	c.(508-510)atG>atT	p.M170I	TTC31_ENST00000410003.1_Missense_Mutation_p.M170I|TTC31_ENST00000442235.2_Missense_Mutation_p.M26I|TTC31_ENST00000463189.1_3'UTR	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	170								p.M170I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGGAGCGCATGAAACAGAAAG	0.537																																					p.M170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	2						.						50.0	52.0	51.0					2																	74717830		2001	4179	6180	74571338	SO:0001583	missense	64427	exon5			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.510G>T	2.37:g.74717830G>T	ENSP00000233623:p.Met170Ile		74571338	NM_022492	Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247681	0.39697	.	.	ENSG00000115282	ENST00000545977;ENST00000410003;ENST00000441635;ENST00000442235;ENST00000233623	T;T;T	0.57752	1.55;0.94;0.38	4.7	1.9	0.25705	.	0.572237	0.15640	N	0.251947	T	0.39358	0.1075	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.003	B;B;B;B	0.08055	0.003;0.001;0.001;0.002	T	0.19844	-1.0293	10	0.22706	T	0.39	.	6.0794	0.19933	0.3152:0.0:0.6848:0.0	.	26;140;170;99	B4DZV1;Q86XF2;Q49AM3;F5H175	.;.;TTC31_HUMAN;.	I	99;170;170;26;170	ENSP00000387213:M170I;ENSP00000416823:M26I;ENSP00000233623:M170I	ENSP00000233623:M170I	M	+	3	0	TTC31	74571338	0.405000	0.25336	0.663000	0.29738	0.996000	0.88848	0.476000	0.22180	0.699000	0.31761	0.561000	0.74099	ATG		0.537	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492	
DQX1	165545	broad.mit.edu	37	2	74755126	74755126	+	5'Flank	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74755126G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R227C	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.R227C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGAACAGGACGAAGCCACCTG	0.577																																					p.R227C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	2						.						108.0	111.0	110.0					2																	74755126		1976	4167	6143	74608634	SO:0001631	upstream_gene_variant	550	exon7			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74755126G>A	Exception_encountered		74608634	NM_181575	Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630767	0.46944	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93488	-3.23	4.9	4.9	0.64082	.	0.552015	0.18698	N	0.133668	D	0.83830	0.5339	N	0.08118	0	0.25282	N	0.989427	P;P;P	0.46327	0.876;0.705;0.77	B;B;B	0.39152	0.183;0.01;0.292	T	0.78663	-0.2116	10	0.72032	D	0.01	1.282	9.0626	0.36444	0.0973:0.0:0.9027:0.0	.	284;293;227	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	227;291;229	ENSP00000366748:R227C	ENSP00000258081:R291C	R	-	1	0	AUP1	74608634	1.000000	0.71417	0.869000	0.34112	0.987000	0.75469	6.093000	0.71422	2.552000	0.86080	0.563000	0.77884	CGT		0.577	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
LOXL3	84695	broad.mit.edu	37	2	74761232	74761232	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74761232G>T	ENST00000264094.3	-	12	2142	c.2071C>A	c.(2071-2073)Ctc>Atc	p.L691I	LOXL3_ENST00000393937.2_Missense_Mutation_p.L546I|LOXL3_ENST00000409986.1_Missense_Mutation_p.L546I|LOXL3_ENST00000409549.1_Missense_Mutation_p.L635I|LOXL3_ENST00000409249.1_Missense_Mutation_p.L409I	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	691	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.L691I(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGTACCTGGAGAATGTAGTTT	0.517																																					p.L691I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2071A	2						.						86.0	84.0	85.0					2																	74761232		2203	4300	6503	74614740	SO:0001583	missense	84695	exon12			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.2071C>A	2.37:g.74761232G>T	ENSP00000264094:p.Leu691Ile		74614740	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966544	0.53507	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.6	4.6	0.57074	.	0.159891	0.43110	D	0.000601	T	0.44891	0.1315	L	0.41906	1.305	0.46749	D	0.999188	P;D;P;P	0.61080	0.94;0.989;0.815;0.77	P;D;P;B	0.64877	0.605;0.93;0.542;0.298	T	0.30268	-0.9984	10	0.51188	T	0.08	.	8.8127	0.34976	0.1016:0.0:0.8984:0.0	.	546;635;546;691	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	I	691;409;546;635;546	ENSP00000264094:L691I;ENSP00000387103:L409I;ENSP00000377512:L546I;ENSP00000386696:L635I;ENSP00000386545:L546I	ENSP00000264094:L691I	L	-	1	0	LOXL3	74614740	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.626000	0.37039	2.541000	0.85698	0.563000	0.77884	CTC		0.517	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
LOXL3	84695	broad.mit.edu	37	2	74779731	74779731	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74779731G>A	ENST00000264094.3	-	2	102	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	LOXL3_ENST00000393937.2_Missense_Mutation_p.P11S|LOXL3_ENST00000409986.1_Missense_Mutation_p.P11S|DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000409549.1_Missense_Mutation_p.P11S|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.P11S|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000233668.5_5'Flank	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	11					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.P11S(1)|p.P11T(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGCCCCCAGGGGCTCCACTGC	0.642																																					p.P11S												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C31T	2						.						8.0	8.0	8.0					2																	74779731		2163	4232	6395	74633239	SO:0001583	missense	84695	exon2			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.31C>T	2.37:g.74779731G>A	ENSP00000264094:p.Pro11Ser		74633239	NM_032603	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	G	8.148	0.786645	0.16189	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.01240	5.23;5.13;5.21;5.26;5.2;5.12	4.67	2.82	0.32997	.	0.931417	0.08916	N	0.875110	T	0.01489	0.0048	L	0.27053	0.805	0.58432	D	0.999998	B;B;B;B	0.13594	0.002;0.008;0.002;0.008	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.49925	-0.8887	10	0.42905	T	0.14	.	7.4117	0.27021	0.0:0.1743:0.6203:0.2055	.	11;11;11;11	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	S	11	ENSP00000264094:P11S;ENSP00000387103:P11S;ENSP00000377512:P11S;ENSP00000386696:P11S;ENSP00000386545:P11S;ENSP00000398260:P11S	ENSP00000264094:P11S	P	-	1	0	LOXL3	74633239	0.006000	0.16342	0.237000	0.24090	0.866000	0.49608	0.081000	0.14823	0.549000	0.28973	-0.485000	0.04761	CCC		0.642	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603	
DOK1	1796	broad.mit.edu	37	2	74782767	74782767	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74782767G>T	ENST00000233668.5	+	3	1095	c.426G>T	c.(424-426)gaG>gaT	p.E142D	LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000393937.2_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_Missense_Mutation_p.E142D|LOXL3_ENST00000409549.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000409429.1_Missense_Mutation_p.E3D|LOXL3_ENST00000409249.1_5'Flank|LOXL3_ENST00000484369.1_5'Flank|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	142					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E142D(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGATGCTGGAGAACTCCTTGT	0.577																																					p.E142D	Esophageal Squamous(36;520 860 12502 33616 51270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	2						.						53.0	53.0	53.0					2																	74782767		2203	4300	6503	74636275	SO:0001583	missense	1796	exon3			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.426G>T	2.37:g.74782767G>T	ENSP00000233668:p.Glu142Asp		74636275	NM_001381	O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	ENST00000233668.5	37	CCDS1954.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339973	0.81911	.	.	ENSG00000115325	ENST00000409429;ENST00000233668;ENST00000340004	D;D	0.82619	-1.63;-1.63	4.8	4.8	0.61643	.	0.119003	0.56097	D	0.000039	D	0.84502	0.5486	L	0.35593	1.075	0.34692	D	0.725834	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	D	0.85087	0.0949	10	0.25106	T	0.35	-32.6186	13.235	0.59965	0.0:0.0:1.0:0.0	.	131;142	B4DJN1;Q99704	.;DOK1_HUMAN	D	3;142;142	ENSP00000387016:E3D;ENSP00000233668:E142D	ENSP00000233668:E142D	E	+	3	2	DOK1	74636275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.665000	0.54532	2.503000	0.84419	0.561000	0.74099	GAG		0.577	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381	
SEMA4F	10505	broad.mit.edu	37	2	74900869	74900869	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:74900869G>A	ENST00000357877.2	+	7	885	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	246	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.E246K(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGACGACGAAATCTACTT	0.572																																					p.E246K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G736A	2						.						93.0	96.0	95.0					2																	74900869		2203	4300	6503	74754377	SO:0001583	missense	10505	exon7			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.736G>A	2.37:g.74900869G>A	ENSP00000350547:p.Glu246Lys		74754377	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408905	0.25378	.	.	ENSG00000135622	ENST00000357877	T	0.08282	3.11	4.79	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.272209	0.30762	N	0.008927	T	0.02970	0.0088	N	0.11313	0.125	0.80722	D	1	B	0.28880	0.226	B	0.19148	0.024	T	0.32929	-0.9888	10	0.02654	T	1	.	6.3284	0.21257	0.094:0.0:0.7212:0.1848	.	246	O95754	SEM4F_HUMAN	K	246	ENSP00000350547:E246K	ENSP00000350547:E246K	E	+	1	0	SEMA4F	74754377	1.000000	0.71417	0.159000	0.22649	0.990000	0.78478	5.247000	0.65416	1.128000	0.42052	0.462000	0.41574	GAA		0.572	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
GCFC2	6936	broad.mit.edu	37	2	75893095	75893095	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:75893095A>C	ENST00000321027.3	-	16	2321	c.2188T>G	c.(2188-2190)Tta>Gta	p.L730V	GCFC2_ENST00000409857.3_Missense_Mutation_p.L692V|MRPL19_ENST00000409374.1_Intron|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	730					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.L730V(1)									GACTGCAATAAAAACTGAATG	0.338																																					p.L730V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2188G	2						.						80.0	83.0	82.0					2																	75893095		2203	4300	6503	75746603	SO:0001583	missense	6936	exon16			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2188T>G	2.37:g.75893095A>C	ENSP00000318690:p.Leu730Val		75746603	NM_003203	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817665	0.71028	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.60548	1.67;1.73;0.18	5.04	5.04	0.67666	.	0.067454	0.64402	D	0.000018	T	0.72439	0.3460	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.73385	-0.3999	9	.	.	.	-14.2054	11.7362	0.51767	1.0:0.0:0.0:0.0	.	730	P16383	GCF_HUMAN	V	730;692;148	ENSP00000318690:L730V;ENSP00000386552:L692V;ENSP00000409340:L148V	.	L	-	1	2	C2orf3	75746603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.171000	0.42453	2.199000	0.70637	0.528000	0.53228	TTA		0.338	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
LRRTM4	80059	broad.mit.edu	37	2	76975878	76975878	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:76975878G>A	ENST00000409093.1	-	4	2052	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	LRRTM4_ENST00000409911.1_Silent_p.I573I|LRRTM4_ENST00000409884.1_Silent_p.I572I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	572					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.I572I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGATGGTGGCGATGAAGCTGT	0.617																																					p.I572I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1716T	2						.						148.0	137.0	140.0					2																	76975878		1568	3582	5150	76829386	SO:0001819	synonymous_variant	80059	exon4			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1716C>T	2.37:g.76975878G>A			76829386	NM_001134745	Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	CCDS46346.1																																																																																				0.617	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
LRRTM4	80059	broad.mit.edu	37	2	77746887	77746887	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:77746887C>A	ENST00000409093.1	-	3	444	c.108G>T	c.(106-108)aaG>aaT	p.K36N	LRRTM4_ENST00000409911.1_Missense_Mutation_p.K37N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.K37N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.K36N|LRRTM4_ENST00000409088.3_Missense_Mutation_p.K36N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	36	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.K36N(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATCTGCAGTTCTTTGGGCAAG	0.468																																					p.K36N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G108T	2						.						87.0	84.0	85.0					2																	77746887		2024	4181	6205	77600395	SO:0001583	missense	80059	exon3			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.108G>T	2.37:g.77746887C>A	ENSP00000386357:p.Lys36Asn		77600395	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	9.618	1.133041	0.21041	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63	5.72	3.93	0.45458	Leucine-rich repeat-containing N-terminal (1);	0.291867	0.38605	N	0.001622	T	0.04182	0.0116	L	0.27053	0.805	0.45330	D	0.998321	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12837	0.001;0.002;0.008	T	0.45101	-0.9284	10	0.26408	T	0.33	.	11.1213	0.48291	0.0:0.8497:0.0:0.1503	.	37;36;36	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	N	37;36;36;36;37	ENSP00000387228:K37N;ENSP00000387297:K36N;ENSP00000386357:K36N;ENSP00000386236:K36N;ENSP00000386286:K37N	ENSP00000386236:K36N	K	-	3	2	LRRTM4	77600395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.634000	0.37123	0.781000	0.33589	0.655000	0.94253	AAG		0.468	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
REG1A	5967	broad.mit.edu	37	2	79349136	79349136	+	Missense_Mutation	SNP	C	C	T	rs200969301	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:79349136C>T	ENST00000233735.1	+	4	309	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.S69L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AACATGAATTCGGGCAACCTG	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		19825	0.0		0.002	False		,,,				2504	0.0				p.S69L												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.C206T	2						.						132.0	124.0	127.0					2																	79349136		2203	4300	6503	79202644	SO:0001583	missense	5967	exon4				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.206C>T	2.37:g.79349136C>T	ENSP00000233735:p.Ser69Leu		79202644	NM_002909	P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	CCDS1964.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	11.79	1.743269	0.30865	.	.	ENSG00000115386	ENST00000233735	T	0.08720	3.06	3.51	2.58	0.30949	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.31797	N	0.007047	T	0.13713	0.0332	M	0.88031	2.925	0.09310	N	1	B	0.24426	0.103	B	0.16289	0.015	T	0.14615	-1.0466	10	0.56958	D	0.05	.	7.9852	0.30207	0.2439:0.7561:0.0:0.0	.	69	P05451	REG1A_HUMAN	L	69	ENSP00000233735:S69L	ENSP00000233735:S69L	S	+	2	0	REG1A	79202644	0.001000	0.12720	0.046000	0.18839	0.963000	0.63663	0.456000	0.21859	0.759000	0.33084	0.563000	0.77884	TCG		0.527	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	
LRRTM1	347730	broad.mit.edu	37	2	80529644	80529644	+	Missense_Mutation	SNP	G	G	A	rs556319399		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:80529644G>A	ENST00000295057.3	-	2	1957	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A434V|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	434					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A434V(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAAGATGAGGGCCATGGTGCC	0.622										HNSCC(69;0.2)																											p.A434V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1301T	2						.						97.0	85.0	89.0					2																	80529644		2203	4300	6503	80383155	SO:0001583	missense	347730	exon2			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1301C>T	2.37:g.80529644G>A	ENSP00000295057:p.Ala434Val		80383155	NM_178839	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283387	0.80803	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.59906	0.23;0.23	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.74275	0.3695	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73607	-0.3929	9	.	.	.	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	434	Q86UE6	LRRT1_HUMAN	V	434	ENSP00000295057:A434V;ENSP00000386646:A434V	.	A	-	2	0	LRRTM1	80383155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.383000	0.81215	0.561000	0.74099	GCC		0.622	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
LRRTM1	347730	broad.mit.edu	37	2	80530141	80530141	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:80530141G>A	ENST00000295057.3	-	2	1460	c.804C>T	c.(802-804)atC>atT	p.I268I	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.I268I|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	268					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.I268I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCATGTACTCGATCTCGTTGC	0.597										HNSCC(69;0.2)																											p.I268I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C804T	2						.						80.0	79.0	79.0					2																	80530141		2203	4300	6503	80383652	SO:0001819	synonymous_variant	347730	exon2			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.804C>T	2.37:g.80530141G>A			80383652	NM_178839	A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	CCDS1966.1																																																																																				0.597	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839	
SUCLG1	8802	broad.mit.edu	37	2	84658638	84658638	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:84658638A>G	ENST00000393868.2	-	7	1029	c.819T>C	c.(817-819)caT>caC	p.H273H	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	273					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.H273H(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TTACTGAATTATGTTGCTTCA	0.333																																					p.H273H	Ovarian(48;203 1101 37206 40305 50790)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T819C	2						.						112.0	112.0	112.0					2																	84658638		2202	4300	6502	84512149	SO:0001819	synonymous_variant	8802	exon7			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.819T>C	2.37:g.84658638A>G			84512149	NM_003849	Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	CCDS1967.2																																																																																				0.333	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
SUCLG1	8802	broad.mit.edu	37	2	84658709	84658709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:84658709C>A	ENST00000393868.2	-	7	958	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	250					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.E250*(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ATGATGCCTTCTGTGGCAGAA	0.353																																					p.E250X	Ovarian(48;203 1101 37206 40305 50790)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	2						.						121.0	120.0	120.0					2																	84658709		2203	4300	6503	84512220	SO:0001587	stop_gained	8802	exon7			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.748G>T	2.37:g.84658709C>A	ENSP00000377446:p.Glu250*		84512220	NM_003849	Q9BWB0|Q9UNP6	Nonsense_Mutation	SNP	ENST00000393868.2	37	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	38	7.281323	0.98186	.	.	ENSG00000163541	ENST00000393868	.	.	.	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.9795	15.2546	0.73576	0.0:0.8591:0.1409:0.0	.	.	.	.	X	250	.	ENSP00000377446:E250X	E	-	1	0	SUCLG1	84512220	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.005000	0.70716	1.587000	0.49959	0.655000	0.94253	GAA		0.353	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
DNAH6	1768	broad.mit.edu	37	2	84800693	84800693	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:84800693C>A	ENST00000237449.6	+	11	1914	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	DNAH6_ENST00000398278.2_Missense_Mutation_p.L636I|DNAH6_ENST00000389394.3_Missense_Mutation_p.L636I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	636	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L215I(1)|p.L636I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTTACAAGCTCTTAAACTTCA	0.363																																					p.L636I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1906A	2						.						97.0	108.0	104.0					2																	84800693		2203	4300	6503	84654204	SO:0001583	missense	1768	exon12			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1906C>A	2.37:g.84800693C>A	ENSP00000237449:p.Leu636Ile		84654204	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.977930	0.18812	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.93;1.81	4.95	4.06	0.47325	.	0.000000	0.43416	D	0.000573	T	0.22205	0.0535	L	0.40543	1.245	0.30641	N	0.756498	B;P	0.45474	0.011;0.859	B;P	0.46253	0.007;0.509	T	0.04078	-1.0979	10	0.19590	T	0.45	.	7.8325	0.29351	0.1576:0.7561:0.0:0.0863	.	636;215	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	636	ENSP00000374045:L636I;ENSP00000381326:L636I;ENSP00000237449:L636I	ENSP00000237449:L636I	L	+	1	0	DNAH6	84654204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.968000	0.40500	2.272000	0.75746	0.491000	0.48974	CTT		0.363	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
TGOLN2	10618	broad.mit.edu	37	2	85553925	85553925	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:85553925C>T	ENST00000409232.3	-	2	991	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TGOLN2_ENST00000444342.2_Silent_p.E310E|TGOLN2_ENST00000282120.2_Silent_p.E154E|TGOLN2_ENST00000409015.1_Silent_p.E310E|TGOLN2_ENST00000398263.2_Silent_p.E252E|TGOLN2_ENST00000377386.3_Silent_p.E310E			O43493	TGON2_HUMAN	trans-golgi network protein 2	310						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.E310E(1)									ACTTAACTTCCTCCTGCGGGG	0.517																																					p.E310E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	2						.						53.0	50.0	51.0					2																	85553925		1892	4121	6013	85407436	SO:0001819	synonymous_variant	10618	exon2			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.930G>A	2.37:g.85553925C>T			85407436	NM_006464	B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	CCDS56126.1																																																																																				0.517	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464	
ELMOD3	84173	broad.mit.edu	37	2	85617484	85617484	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:85617484C>A	ENST00000409890.2	+	13	1610				ELMOD3_ENST00000315658.7_Missense_Mutation_p.L347I|ELMOD3_ENST00000409344.3_Intron|ELMOD3_ENST00000409013.3_Intron|ELMOD3_ENST00000490508.1_Intron|ELMOD3_ENST00000393852.4_Intron			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L347I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GGCTGCAGTTCTTCCCCATCC	0.537																																					p.L347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039A	2						.						184.0	177.0	180.0					2																	85617484		2203	4300	6503	85470995	SO:0001627	intron_variant	84173	exon11			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.943+96C>A	2.37:g.85617484C>A			85470995	NM_032213	B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	ENST00000409890.2	37	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470381	0.26423	.	.	ENSG00000115459	ENST00000315658	T	0.37584	1.19	4.34	1.52	0.23074	.	1.837580	0.03207	U	0.175599	T	0.22399	0.0540	.	.	.	0.09310	N	1	B	0.33238	0.403	B	0.25405	0.06	T	0.14896	-1.0456	8	.	.	.	0.2746	6.0666	0.19866	0.0:0.6573:0.0:0.3427	.	347	Q96FG2-6	.	I	347	ENSP00000318264:L347I	.	L	+	1	0	ELMOD3	85470995	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.785000	0.26830	0.008000	0.14787	-0.218000	0.12543	CTT		0.537	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213	
GGCX	2677	broad.mit.edu	37	2	85778164	85778164	+	Missense_Mutation	SNP	G	G	A	rs187605466	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:85778164G>A	ENST00000233838.4	-	13	1852	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	GGCX_ENST00000430215.3_Missense_Mutation_p.T534M|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	591					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.T591M(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	AGGTGATGTCGTATACACCTT	0.448													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20879	0.0		0.0	False		,,,				2504	0.0				p.T591M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1772T	2	GRCh37	CM064016	GGCX	M	rs187605466	.						174.0	156.0	162.0					2																	85778164		2203	4300	6503	85631675	SO:0001583	missense	2677	exon13				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1772C>T	2.37:g.85778164G>A	ENSP00000233838:p.Thr591Met		85631675	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	20.4	3.990709	0.74589	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.85861	-2.04;-2.04	5.53	5.53	0.82687	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.982;0.98	D	0.92121	0.5704	10	0.87932	D	0	-13.0388	17.3142	0.87218	0.0:0.0:1.0:0.0	.	534;407;591	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	M	591;534	ENSP00000233838:T591M;ENSP00000408045:T534M	ENSP00000233838:T591M	T	-	2	0	GGCX	85631675	1.000000	0.71417	0.547000	0.28179	0.518000	0.34316	8.948000	0.93006	2.763000	0.94921	0.561000	0.74099	ACG		0.448	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
GGCX	2677	broad.mit.edu	37	2	85780363	85780363	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:85780363G>T	ENST00000233838.4	-	8	1227	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	GGCX_ENST00000430215.3_Missense_Mutation_p.L326I|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	383					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.L383I(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	ACCTGGGTGAGAAAATGAGAA	0.547																																					p.L383I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147A	2						.						112.0	125.0	121.0					2																	85780363		2203	4300	6503	85633874	SO:0001583	missense	2677	exon8				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1147C>A	2.37:g.85780363G>T	ENSP00000233838:p.Leu383Ile		85633874	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	0.505	-0.869011	0.02570	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.91631	-2.88;-2.88	5.64	4.68	0.58851	.	0.184635	0.46442	D	0.000298	T	0.72645	0.3486	N	0.00670	-1.27	0.38906	D	0.957423	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.17979	0.01;0.003;0.02	T	0.73023	-0.4113	10	0.02654	T	1	-23.249	12.5756	0.56362	0.0:0.0:0.7619:0.2381	.	326;222;383	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	I	383;326	ENSP00000233838:L383I;ENSP00000408045:L326I	ENSP00000233838:L383I	L	-	1	0	GGCX	85633874	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	5.065000	0.64344	2.657000	0.90304	0.655000	0.94253	CTC		0.547	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
SFTPB	6439	broad.mit.edu	37	2	85892767	85892767	+	Missense_Mutation	SNP	G	G	A	rs138274558		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:85892767G>A	ENST00000519937.2	-	5	563	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	SFTPB_ENST00000393822.3_Missense_Mutation_p.P194S|SFTPB_ENST00000409383.1_Missense_Mutation_p.P194S|SFTPB_ENST00000342375.3_Missense_Mutation_p.P182S			P07988	PSPB_HUMAN	surfactant protein B	182					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.P182S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						AGGGCCCCGGGCAGCACAGGG	0.667																																					p.P194S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C580T	2						.		SER/PRO,SER/PRO	1,4403	2.1+/-5.4	0,1,2201	40.0	44.0	43.0		580,580	3.9	0.5	2	dbSNP_134	43	0,8600		0,0,4300	no	missense,missense	SFTPB	NM_000542.3,NM_198843.2	74,74	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/394,194/394	85892767	1,13003	2202	4300	6502	85746278	SO:0001583	missense	6439	exon6			J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.544C>T	2.37:g.85892767G>A	ENSP00000428719:p.Pro182Ser		85746278	NM_198843	Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.79|14.79	2.641910|2.641910	0.47153|0.47153	2.27E-4|2.27E-4	0.0|0.0	ENSG00000168878|ENSG00000168878	ENST00000428225|ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	.|T;T;T;T	.|0.70399	.|0.56;-0.31;-0.48;-0.31	4.84|4.84	3.9|3.9	0.45041|0.45041	.|.	.|0.150101	.|0.30667	.|N	.|0.009132	T|T	0.70535|0.70535	0.3235|0.3235	M|M	0.68317|0.68317	2.08|2.08	0.19945|0.19945	N|N	0.999948|0.999948	.|D;P	.|0.54772	.|0.968;0.824	.|P;B	.|0.48704	.|0.587;0.276	T|T	0.63269|0.63269	-0.6675|-0.6675	5|10	.|0.34782	.|T	.|0.22	-3.4787|-3.4787	9.5689|9.5689	0.39416|0.39416	0.0:0.0:0.7909:0.2091|0.0:0.0:0.7909:0.2091	.|.	.|194;182	.|D6W5L6;P07988	.|.;PSPB_HUMAN	V|S	178|184;194;182;194;150	.|ENSP00000428719:P184S;ENSP00000377409:P194S;ENSP00000345161:P182S;ENSP00000386346:P194S	.|ENSP00000345161:P182S	A|P	-|-	2|1	0|0	SFTPB|SFTPB	85746278|85746278	0.087000|0.087000	0.21565|0.21565	0.538000|0.538000	0.28064|0.28064	0.277000|0.277000	0.26821|0.26821	1.102000|1.102000	0.31050|0.31050	2.242000|2.242000	0.73789|0.73789	0.556000|0.556000	0.70494|0.70494	GCC|CCC		0.667	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843	
ST3GAL5	8869	broad.mit.edu	37	2	86071630	86071630	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86071630G>A	ENST00000377332.3	-	6	1005	c.897C>T	c.(895-897)atC>atT	p.I299I	ST3GAL5_ENST00000393808.3_Silent_p.I276I|ST3GAL5_ENST00000393805.1_Silent_p.I271I	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	299					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.I299I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GCTGCAGTGGGATTTTTTCTG	0.458																																					p.I276I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C828T	2						.						90.0	88.0	89.0					2																	86071630		2203	4300	6503	85925141	SO:0001819	synonymous_variant	8869	exon6			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.897C>T	2.37:g.86071630G>A			85925141	NM_001042437	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	CCDS1986.2																																																																																				0.458	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896	
POLR1A	25885	broad.mit.edu	37	2	86327141	86327141	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86327141G>T	ENST00000263857.6	-	2	610	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L78M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	78					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.L78M(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATGTGGCCCAGGTGCCCAGAA	0.557																																					p.L78M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C232A	2						.						90.0	95.0	93.0					2																	86327141		2039	4187	6226	86180652	SO:0001583	missense	25885	exon2			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.232C>A	2.37:g.86327141G>T	ENSP00000263857:p.Leu78Met		86180652	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354417	0.24512	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.19669	2.13;2.13	5.78	3.04	0.35103	RNA polymerase Rpb1, domain 1 (1);	0.139981	0.49916	D	0.000139	T	0.16896	0.0406	L	0.32530	0.975	0.40580	D	0.981382	B;B	0.31879	0.073;0.344	B;B	0.35688	0.05;0.208	T	0.06463	-1.0825	10	0.34782	T	0.22	-15.5589	9.9487	0.41626	0.2929:0.0:0.7071:0.0	.	78;78	B9ZVN9;O95602	.;RPA1_HUMAN	M	78	ENSP00000263857:L78M;ENSP00000386300:L78M	ENSP00000263857:L78M	L	-	1	2	POLR1A	86180652	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	2.233000	0.43027	0.383000	0.24910	0.563000	0.77884	CTG		0.557	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
PTCD3	55037	broad.mit.edu	37	2	86362002	86362002	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86362002C>A	ENST00000254630.7	+	21	1736	c.1670C>A	c.(1669-1671)tCt>tAt	p.S557Y	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	557					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.S557Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GATATCAAATCTGCGTATGAA	0.468																																					p.S557Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1670A	2						.						137.0	144.0	142.0					2																	86362002		2203	4300	6503	86215513	SO:0001583	missense	55037	exon21				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1670C>A	2.37:g.86362002C>A	ENSP00000254630:p.Ser557Tyr		86215513	NM_017952	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352967	0.24512	.	.	ENSG00000132300	ENST00000254630	T	0.34072	1.38	5.71	4.8	0.61643	.	0.453411	0.26761	N	0.022635	T	0.38665	0.1049	L	0.55743	1.74	0.36435	D	0.865145	P;B	0.39443	0.674;0.372	B;B	0.40165	0.321;0.1	T	0.51028	-0.8757	10	0.52906	T	0.07	-17.6877	16.0796	0.80995	0.1345:0.8655:0.0:0.0	.	148;557	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	Y	557	ENSP00000254630:S557Y	ENSP00000254630:S557Y	S	+	2	0	PTCD3	86215513	0.941000	0.31946	0.382000	0.26119	0.124000	0.20399	1.646000	0.37249	2.688000	0.91661	0.655000	0.94253	TCT		0.468	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952	
IMMT	10989	broad.mit.edu	37	2	86371720	86371720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86371720C>A	ENST00000410111.3	-	15	2335	c.1948G>T	c.(1948-1950)Gaa>Taa	p.E650*	IMMT_ENST00000254636.5_Nonsense_Mutation_p.E551*|IMMT_ENST00000442664.2_Nonsense_Mutation_p.E649*|IMMT_ENST00000449247.2_Nonsense_Mutation_p.E639*|IMMT_ENST00000409051.2_Nonsense_Mutation_p.E603*	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	650					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.E650*(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTGGTTTCATCAATCATT	0.537																																					p.E649X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1945T	2						.						123.0	119.0	120.0					2																	86371720		1884	4118	6002	86225231	SO:0001587	stop_gained	10989	exon15			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.1948G>T	2.37:g.86371720C>A	ENSP00000387262:p.Glu650*		86225231	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Nonsense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.938483|4.938483	0.92526|0.92526	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.66056|.	D|.	0.02|.	-20.6593|-20.6593	19.3809|19.3809	0.94532|0.94532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	551;639;650;649;603;639;618;264;551|504	.|.	ENSP00000254636:E551X|.	E|X	-|-	1|2	0|2	IMMT|IMMT	86225231|86225231	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.456000|0.456000	0.32438|0.32438	7.651000|7.651000	0.83577|0.83577	2.816000|2.816000	0.96949|0.96949	0.644000|0.644000	0.83932|0.83932	GAA|TGA		0.537	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
IMMT	10989	broad.mit.edu	37	2	86373206	86373206	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86373206C>T	ENST00000410111.3	-	14	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	IMMT_ENST00000254636.5_Missense_Mutation_p.E451K|IMMT_ENST00000442664.2_Missense_Mutation_p.E549K|IMMT_ENST00000449247.2_Missense_Mutation_p.E539K|IMMT_ENST00000409051.2_Missense_Mutation_p.E503K	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	550					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.E550K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCCTGTTCGATTCCTCTG	0.358																																					p.E549K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1645A	2						.						54.0	51.0	52.0					2																	86373206		1829	4078	5907	86226717	SO:0001583	missense	10989	exon14			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1648G>A	2.37:g.86373206C>T	ENSP00000387262:p.Glu550Lys		86226717	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.471610|5.471610	0.96274|0.96274	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19;1.19|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78780|0.78780	0.4337|0.4337	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.998;0.998;0.996;1.0;0.998|.	T|T	0.77357|0.77357	-0.2618|-0.2618	10|5	0.39692|.	T|.	0.17|.	-23.3027|-23.3027	20.1438|20.1438	0.98071|0.98071	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	503;538;452;539;518;550|.	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;IMMT_HUMAN|.	K|Q	451;539;550;549;503;539;518;451|404	ENSP00000254636:E451K;ENSP00000396899:E539K;ENSP00000387262:E550K;ENSP00000407788:E549K;ENSP00000387227:E503K|.	ENSP00000254636:E451K|.	E|R	-|-	1|2	0|0	IMMT|IMMT	86226717|86226717	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.055000|7.055000	0.76656|0.76656	2.768000|2.768000	0.95171|0.95171	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.358	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
MRPL35	51318	broad.mit.edu	37	2	86434405	86434405	+	Silent	SNP	C	C	T	rs374724139		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86434405C>T	ENST00000337109.4	+	3	367	c.333C>T	c.(331-333)atC>atT	p.I111I	MRPL35_ENST00000254644.8_Silent_p.I111I|MRPL35_ENST00000409180.1_Silent_p.I111I|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	111					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.I111I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AAGCTGTCATCGATAGGTTTC	0.483																																					p.I111I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	2						.	C	,	0,4406		0,0,2203	100.0	93.0	95.0		333,333	4.2	1.0	2		95	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	MRPL35	NM_016622.3,NM_145644.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	111/189,111/171	86434405	3,13003	2203	4300	6503	86287916	SO:0001819	synonymous_variant	51318	exon3			AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.333C>T	2.37:g.86434405C>T			86287916	NM_016622	A6NKV6|B2RB93|Q658U7|Q8WWA2	Silent	SNP	ENST00000337109.4	37	CCDS1988.1																																																																																				0.483	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091002.2	NM_016622	
KDM3A	55818	broad.mit.edu	37	2	86693919	86693919	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86693919G>T	ENST00000409556.1	+	11	1797	c.1432G>T	c.(1432-1434)Gct>Tct	p.A478S	KDM3A_ENST00000409064.1_Missense_Mutation_p.A478S|KDM3A_ENST00000542128.1_Missense_Mutation_p.A426S|KDM3A_ENST00000485171.1_Intron|KDM3A_ENST00000312912.5_Missense_Mutation_p.A478S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	478					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A478S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TTCAGCTTTAGCTTGCCGATC	0.383																																					p.A478S	NSCLC(96;1150 1523 6936 46253 49736)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1432T	2						.						50.0	52.0	52.0					2																	86693919		2203	4300	6503	86547430	SO:0001583	missense	55818	exon10			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1432G>T	2.37:g.86693919G>T	ENSP00000386660:p.Ala478Ser		86547430	NM_001146688	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	3.872	-0.027790	0.07589	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.09	2.24	0.28232	.	0.692003	0.13569	N	0.378239	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.11329	0.001;0.006	T	0.25398	-1.0133	10	0.10377	T	0.69	.	8.6886	0.34254	0.2569:0.0:0.7431:0.0	.	426;478	F5H070;Q9Y4C1	.;KDM3A_HUMAN	S	478;478;478;478;426	ENSP00000386660:A478S;ENSP00000323659:A478S;ENSP00000386516:A478S;ENSP00000438324:A426S	ENSP00000323659:A478S	A	+	1	0	KDM3A	86547430	0.002000	0.14202	0.989000	0.46669	0.958000	0.62258	0.788000	0.26872	0.645000	0.30675	0.563000	0.77884	GCT		0.383	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
RNF103	7844	broad.mit.edu	37	2	86831930	86831930	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:86831930G>T	ENST00000237455.4	-	4	2062	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	365					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S365Y(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AATTAATAGAGAATTATATGT	0.333																																					p.S361Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1082A	2						.						59.0	67.0	64.0					2																	86831930		2201	4299	6500	86685441	SO:0001583	missense	7844	exon5			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1094C>A	2.37:g.86831930G>T	ENSP00000237455:p.Ser365Tyr		86685441	NM_001198951	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603143	0.66445	.	.	ENSG00000239305	ENST00000237455	T	0.47177	0.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.68078	-0.5504	10	0.62326	D	0.03	-18.1452	19.3733	0.94498	0.0:0.0:1.0:0.0	.	365	O00237	RN103_HUMAN	Y	365	ENSP00000237455:S365Y	ENSP00000237455:S365Y	S	-	2	0	RNF103	86685441	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.220000	0.78008	2.584000	0.87258	0.460000	0.39030	TCT		0.333	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667	
KRCC1	51315	broad.mit.edu	37	2	88328068	88328068	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:88328068C>A	ENST00000347055.3	-	4	408	c.15G>T	c.(13-15)aaG>aaT	p.K5N		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	5								p.K5N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CATATGTCTTCTTTGAATGCT	0.363																																					p.K5N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15T	2						.						30.0	33.0	32.0					2																	88328068		2202	4298	6500	88109183	SO:0001583	missense	51315	exon4			AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.15G>T	2.37:g.88328068C>A	ENSP00000340083:p.Lys5Asn		88109183	NM_016618	Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.662257	0.29515	.	.	ENSG00000172086	ENST00000347055	T	0.37235	1.21	5.62	3.78	0.43462	.	0.614043	0.15851	N	0.241537	T	0.32285	0.0824	L	0.52206	1.635	0.33443	D	0.58266	B	0.24368	0.102	B	0.24155	0.051	T	0.37150	-0.9718	10	0.48119	T	0.1	.	9.1156	0.36755	0.0:0.7636:0.154:0.0824	.	5	Q9NPI7	KRCC1_HUMAN	N	5	ENSP00000340083:K5N	ENSP00000340083:K5N	K	-	3	2	KRCC1	88109183	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.063000	0.30567	0.691000	0.31592	0.655000	0.94253	AAG		0.363	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618	
SMYD1	150572	broad.mit.edu	37	2	88387501	88387501	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:88387501G>T	ENST00000419482.2	+	3	520	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.K145N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	145	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.K145N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGAGCAGAAGGACCTGCGGG	0.627																																					p.K145N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	2						.						124.0	94.0	105.0					2																	88387501		2203	4300	6503	88168616	SO:0001583	missense	150572	exon3			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.435G>T	2.37:g.88387501G>T	ENSP00000393453:p.Lys145Asn		88168616	NM_198274	A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513290	0.64522	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	D;D	0.81996	-1.56;-1.56	4.82	3.93	0.45458	SET domain (2);	0.205916	0.52532	D	0.000077	T	0.76111	0.3942	N	0.19112	0.55	0.80722	D	1	D	0.56521	0.976	P	0.51918	0.684	T	0.73049	-0.4105	10	0.33141	T	0.24	-22.2131	8.6334	0.33933	0.0826:0.1512:0.7661:0.0	.	145	Q8NB12	SMYD1_HUMAN	N	145	ENSP00000393453:K145N;ENSP00000407888:K145N	ENSP00000393453:K145N	K	+	3	2	SMYD1	88168616	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.941000	0.40233	1.127000	0.42034	0.561000	0.74099	AAG		0.627	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	
SMYD1	150572	broad.mit.edu	37	2	88387588	88387588	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:88387588C>T	ENST00000419482.2	+	3	607	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.F174F	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	174	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.F174F(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CGCACATCTTCGGAGTGGTAG	0.597																																					p.F174F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	2						.						101.0	62.0	75.0					2																	88387588		2203	4300	6503	88168703	SO:0001819	synonymous_variant	150572	exon3			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.522C>T	2.37:g.88387588C>T			88168703	NM_198274	A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	CCDS33240.1																																																																																				0.597	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	
EIF2AK3	9451	broad.mit.edu	37	2	88913369	88913369	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:88913369G>A	ENST00000303236.3	-	2	612	c.311C>T	c.(310-312)tCa>tTa	p.S104L	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	104					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.S104L(1)		ovary(3)	3						AATTACTAATGACCTGtaaat	0.383																																					p.S104L	GBM(138;671 1851 16235 39058 45249)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C311T	2						.						61.0	56.0	57.0					2																	88913369		2203	4300	6503	88694484	SO:0001583	missense	9451	exon2			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.311C>T	2.37:g.88913369G>A	ENSP00000307235:p.Ser104Leu		88694484	NM_004836	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534394	0.85812	.	.	ENSG00000172071	ENST00000303236	T	0.73681	-0.77	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	M	0.74258	2.255	0.50632	D	0.999887	D	0.56521	0.976	P	0.52481	0.7	T	0.83247	-0.0055	10	0.48119	T	0.1	-12.5106	19.1382	0.93436	0.0:0.0:1.0:0.0	.	104	Q9NZJ5	E2AK3_HUMAN	L	104	ENSP00000307235:S104L	ENSP00000307235:S104L	S	-	2	0	EIF2AK3	88694484	1.000000	0.71417	0.959000	0.39883	0.604000	0.37047	7.387000	0.79785	2.507000	0.84556	0.655000	0.94253	TCA		0.383	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
RPIA	22934	broad.mit.edu	37	2	88999564	88999564	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:88999564T>C	ENST00000283646.4	+	3	439	c.384T>C	c.(382-384)tgT>tgC	p.C128C		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	128					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.C128C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACCTCGTCTGTATTCCCACTT	0.463																																					p.C128C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T384C	2						.						175.0	165.0	168.0					2																	88999564		1925	4141	6066	88780679	SO:0001819	synonymous_variant	22934	exon3			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.384T>C	2.37:g.88999564T>C			88780679	NM_144563	Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	CCDS2004.2																																																																																				0.463	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
ADRA2B	151	broad.mit.edu	37	2	96781139	96781139	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96781139C>T	ENST00000409345.3	-	1	845	c.750G>A	c.(748-750)tcG>tcA	p.S250S		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	250					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.S250S(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGTGGACTTCGAGTGTCCGT	0.652																																					p.S250S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G750A	2						.						21.0	23.0	23.0					2																	96781139		1880	4119	5999	96144866	SO:0001819	synonymous_variant	151	exon1			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.750G>A	2.37:g.96781139C>T			96144866	NM_000682	Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																				0.652	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
ASTL	431705	broad.mit.edu	37	2	96789618	96789618	+	Missense_Mutation	SNP	T	T	G	rs577986927		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96789618T>G	ENST00000342380.2	-	9	1266	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.N423H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAAATGATTTCTAGGTACA	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		20133	0.0		0.0	False		,,,				2504	0.0				p.N423H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1267C	2						.						68.0	75.0	73.0					2																	96789618		2203	4300	6503	96153345	SO:0001583	missense	431705	exon9			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1267A>C	2.37:g.96789618T>G	ENSP00000343674:p.Asn423His		96153345	NM_001002036		Missense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	T	6.768	0.510603	0.12883	.	.	ENSG00000188886	ENST00000342380	T	0.64618	-0.11	4.44	0.706	0.18133	.	0.634518	0.13400	N	0.390698	T	0.38931	0.1059	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.34204	-0.9838	10	0.66056	D	0.02	-0.0632	5.8422	0.18639	0.0:0.3956:0.0:0.6044	.	423	Q6HA08	ASTL_HUMAN	H	423	ENSP00000343674:N423H	ENSP00000343674:N423H	N	-	1	0	ASTL	96153345	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.291000	0.08343	0.279000	0.22186	0.454000	0.30748	AAT		0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
ASTL	431705	broad.mit.edu	37	2	96795838	96795838	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96795838C>T	ENST00000342380.2	-	7	683	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.T228T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGTCATAGGGCGTCAGCATGT	0.478																																					p.T228T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G684A	2						.						138.0	141.0	140.0					2																	96795838		2203	4300	6503	96159565	SO:0001819	synonymous_variant	431705	exon7			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.684G>A	2.37:g.96795838C>T			96159565	NM_001002036		Silent	SNP	ENST00000342380.2	37	CCDS33249.1																																																																																				0.478	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
ASTL	431705	broad.mit.edu	37	2	96798409	96798409	+	Silent	SNP	C	C	T	rs369122887		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96798409C>T	ENST00000342380.2	-	6	506	c.507G>A	c.(505-507)gcG>gcA	p.A169A		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.A169A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GACACGTGGGCGCCAGGGAGA	0.642																																					p.A169A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G507A	2						.	T		1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		507	-4.4	0.6	2		76	0,8600		0,0,4300	no	coding-synonymous	ASTL	NM_001002036.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		169/432	96798409	1,13005	2203	4300	6503	96162136	SO:0001819	synonymous_variant	431705	exon6			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.507G>A	2.37:g.96798409C>T			96162136	NM_001002036		Silent	SNP	ENST00000342380.2	37	CCDS33249.1																																																																																				0.642	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
ASTL	431705	broad.mit.edu	37	2	96799217	96799217	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96799217C>T	ENST00000342380.2	-	5	401	c.402G>A	c.(400-402)agG>agA	p.R134R		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.R134R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGGTGACAAACCTGATGCACG	0.572																																					p.R134R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G402A	2						.						104.0	92.0	96.0					2																	96799217		2203	4300	6503	96162944	SO:0001819	synonymous_variant	431705	exon5			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.402G>A	2.37:g.96799217C>T			96162944	NM_001002036		Silent	SNP	ENST00000342380.2	37	CCDS33249.1																																																																																				0.572	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		
SNRNP200	23020	broad.mit.edu	37	2	96943648	96943648	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96943648A>C	ENST00000323853.5	-	40	5728	c.5651T>G	c.(5650-5652)tTc>tGc	p.F1884C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1884	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1884C(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGGATCATTGAACTTAGGGTT	0.507																																					p.F1884C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5651G	2						.						127.0	134.0	132.0					2																	96943648		2203	4300	6503	96307375	SO:0001583	missense	23020	exon40			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5651T>G	2.37:g.96943648A>C	ENSP00000317123:p.Phe1884Cys		96307375	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371896	0.42003	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.60672	0.17	4.91	4.91	0.64330	Sec63 domain (3);	0.053010	0.85682	D	0.000000	T	0.63861	0.2547	M	0.87617	2.895	0.80722	D	1	B	0.14805	0.011	B	0.19391	0.025	T	0.65459	-0.6163	10	0.48119	T	0.1	-18.6376	13.9519	0.64123	1.0:0.0:0.0:0.0	.	1884	O75643	U520_HUMAN	C	1884;343;467	ENSP00000317123:F1884C	ENSP00000317123:F1884C	F	-	2	0	SNRNP200	96307375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.923000	0.75817	2.183000	0.69458	0.533000	0.62120	TTC		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
SNRNP200	23020	broad.mit.edu	37	2	96962701	96962701	+	Silent	SNP	C	C	T	rs142142479		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96962701C>T	ENST00000323853.5	-	12	1562	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	SNRNP200_ENST00000349783.5_Silent_p.T495T	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	495	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T495T(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATTCTCATCCGTCTCAAGGG	0.493																																					p.T495T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1485A	2						.	C		1,4405	2.1+/-5.4	0,1,2202	73.0	66.0	69.0		1485	-9.5	1.0	2	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		495/2137	96962701	1,13005	2203	4300	6503	96326428	SO:0001819	synonymous_variant	23020	exon12			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1485G>A	2.37:g.96962701C>T			96326428	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	CCDS2020.1																																																																																				0.493	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
ITPRIPL1	150771	broad.mit.edu	37	2	96992559	96992559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:96992559C>T	ENST00000439118.2	+	3	441	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ITPRIPL1_ENST00000361124.4_Nonsense_Mutation_p.R72*|ITPRIPL1_ENST00000542887.1_Nonsense_Mutation_p.R56*|ITPRIPL1_ENST00000536814.1_Nonsense_Mutation_p.R56*	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	64						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R72*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGAGAAAGCGAGCCGCTGA	0.552																																					p.R56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C166T	2						.						88.0	91.0	90.0					2																	96992559		2203	4300	6503	96356286	SO:0001587	stop_gained	150771	exon2				CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.190C>T	2.37:g.96992559C>T	ENSP00000389308:p.Arg64*		96356286	NM_001163523	F5H1L8|Q8NE61	Nonsense_Mutation	SNP	ENST00000439118.2	37	CCDS46360.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146563	0.94603	.	.	ENSG00000198885	ENST00000420176;ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887	.	.	.	5.23	3.35	0.38373	.	0.747693	0.10353	N	0.684833	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2575	9.2863	0.37760	0.1428:0.7787:0.0:0.0785	.	.	.	.	X	56;56;64;72;56	.	ENSP00000355121:R72X	R	+	1	2	ITPRIPL1	96356286	0.004000	0.15560	0.021000	0.16686	0.776000	0.43924	0.302000	0.19192	1.155000	0.42497	0.655000	0.94253	CGA		0.552	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495	
KANSL3	55683	broad.mit.edu	37	2	97275281	97275281	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:97275281C>A	ENST00000431828.1	-	12	1414	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N	KANSL3_ENST00000599854.1_Missense_Mutation_p.K359N|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.K240N|KANSL3_ENST00000441706.2_Missense_Mutation_p.K359N			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	446					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K446N(1)									CTTCTGATTTCTTCTTTGCTT	0.383																																					p.K446N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1338T	2						.						359.0	356.0	357.0					2																	97275281		1906	4124	6030	96639008	SO:0001583	missense	55683	exon12			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1338G>T	2.37:g.97275281C>A	ENSP00000396749:p.Lys446Asn		96639008	NM_001115016	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122174	0.77436	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.54866	0.58;0.55	5.2	4.33	0.51752	.	0.089923	0.85682	D	0.000000	T	0.61299	0.2336	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.998;0.997	P;P;P;P	0.62184	0.852;0.76;0.876;0.899	T	0.62817	-0.6774	10	0.59425	D	0.04	.	11.5096	0.50486	0.0:0.9125:0.0:0.0875	.	240;446;359;334	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	N	359;334;446;359;240;240	ENSP00000396749:K446N;ENSP00000406207:K240N	ENSP00000346144:K359N	K	-	3	2	KIAA1310	96639008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.635000	0.61332	1.192000	0.43071	0.655000	0.94253	AAG		0.383	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991	
ANKRD36B	57730	broad.mit.edu	37	2	98167926	98167926	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98167926G>T	ENST00000443455.1	-	0	1401							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTCAAGGCTGGTTTTTTCTGA	0.318																																					p.P431T												.	.	0			c.C1291A	2						.						56.0	53.0	54.0					2																	98167926		1820	4003	5823	97534358			57730	exon17			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98167926G>T			97534358	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																					0.318	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190	
VWA3B	200403	broad.mit.edu	37	2	98732199	98732199	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98732199G>T	ENST00000477737.1	+	3	485	c.281G>T	c.(280-282)aGa>aTa	p.R94I	VWA3B_ENST00000435344.1_Missense_Mutation_p.R94I|VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E28*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	94								p.R94I(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAAGATGGCAGAGTATACAAT	0.493																																					p.R94I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281T	2						.						84.0	81.0	82.0					2																	98732199		2133	4260	6393	98098631	SO:0001583	missense	200403	exon3			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.281G>T	2.37:g.98732199G>T	ENSP00000417955:p.Arg94Ile		98098631	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.106338|6.106338	0.97286|0.97286	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000451075|ENST00000435344;ENST00000477737	.|T;T	.|0.39056	.|1.1;1.1	5.53|5.53	0.115|0.115	0.14643|0.14643	.|.	.|0.570028	.|0.16734	.|N	.|0.201739	.|T	.|0.24624	.|0.0597	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	A|A	1|1	.|P;B	.|0.43885	.|0.82;0.046	.|B;B	.|0.36719	.|0.231;0.047	.|T	.|0.25363	.|-1.0134	.|9	0.05620|0.42905	T|T	0.96|0.14	.|.	6.3008|6.3008	0.21111|0.21111	0.265:0.514:0.221:0.0|0.265:0.514:0.221:0.0	.|.	.|94;94	.|Q502W6;Q502W6-8	.|VWA3B_HUMAN;.	X|I	28|94	.|ENSP00000401959:R94I;ENSP00000417955:R94I	ENSP00000389463:E28X|ENSP00000411168:R94I	E|R	+|+	1|2	0|0	VWA3B|VWA3B	98098631|98098631	0.213000|0.213000	0.23551|0.23551	0.086000|0.086000	0.20670|0.20670	0.994000|0.994000	0.84299|0.84299	0.090000|0.090000	0.15025|0.15025	0.262000|0.262000	0.21774|0.21774	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.493	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
VWA3B	200403	broad.mit.edu	37	2	98834347	98834347	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98834347G>T	ENST00000477737.1	+	14	2079	c.1875G>T	c.(1873-1875)caG>caT	p.Q625H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	625	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.Q625H(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACGTTTTCAGGAAATTCCTA	0.393																																					p.Q625H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1875T	2						.						97.0	88.0	91.0					2																	98834347		1836	4083	5919	98200779	SO:0001583	missense	200403	exon14			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1875G>T	2.37:g.98834347G>T	ENSP00000417955:p.Gln625His		98200779	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.777368|2.777368	0.49786|0.49786	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.08458	.|3.09	5.77|5.77	3.87|3.87	0.44632|0.44632	.|von Willebrand factor, type A (3);	.|0.480379	.|0.18852	.|N	.|0.129380	.|T	.|0.11836	.|0.0288	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.71674	.|0.998;0.856;0.728;0.995	.|D;B;B;D	.|0.67382	.|0.951;0.376;0.189;0.912	.|T	.|0.22556	.|-1.0213	.|10	.|0.32370	.|T	.|0.25	.|.	5.2486|5.2486	0.15510|0.15510	0.1746:0.1707:0.6547:0.0|0.1746:0.1707:0.6547:0.0	.|.	.|17;625;625;625	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	X|H	36|625	.|ENSP00000417955:Q625H	.|ENSP00000417955:Q625H	G|Q	+|+	1|3	0|2	VWA3B|VWA3B	98200779|98200779	0.127000|0.127000	0.22367|0.22367	1.000000|1.000000	0.80357|0.80357	0.587000|0.587000	0.36485|0.36485	0.166000|0.166000	0.16583|0.16583	1.440000|1.440000	0.47531|0.47531	0.655000|0.655000	0.94253|0.94253	GGA|CAG		0.393	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
VWA3B	200403	broad.mit.edu	37	2	98846644	98846644	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98846644T>C	ENST00000477737.1	+	16	2486	c.2282T>C	c.(2281-2283)gTt>gCt	p.V761A		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	761								p.V761A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATCAAAAGGTTCAGAAAAAG	0.413																																					p.V761A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2282C	2						.						90.0	81.0	84.0					2																	98846644		1833	4100	5933	98213076	SO:0001583	missense	200403	exon16			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2282T>C	2.37:g.98846644T>C	ENSP00000417955:p.Val761Ala		98213076	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425986	0.25726	.	.	ENSG00000168658	ENST00000477737	T	0.05580	3.42	4.29	-3.34	0.04943	.	2.099500	0.02258	N	0.067330	T	0.03915	0.0110	N	0.22421	0.69	0.09310	N	0.999997	B;B;B;B	0.13145	0.006;0.001;0.001;0.007	B;B;B;B	0.14023	0.004;0.003;0.001;0.01	T	0.38112	-0.9676	10	0.02654	T	1	.	6.1025	0.20055	0.0:0.4949:0.1726:0.3326	.	153;761;761;761	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	A	761	ENSP00000417955:V761A	ENSP00000417955:V761A	V	+	2	0	VWA3B	98213076	0.177000	0.23109	0.194000	0.23346	0.239000	0.25481	-0.545000	0.06069	-0.712000	0.04988	-0.619000	0.04042	GTT		0.413	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
VWA3B	200403	broad.mit.edu	37	2	98853051	98853051	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98853051C>A	ENST00000477737.1	+	19	2735	c.2531C>A	c.(2530-2532)tCt>tAt	p.S844Y		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	844								p.S844Y(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAGATGTGTCTTCAGAAAAC	0.438																																					p.S844Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2531A	2						.						106.0	107.0	107.0					2																	98853051		1943	4151	6094	98219483	SO:0001583	missense	200403	exon19			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2531C>A	2.37:g.98853051C>A	ENSP00000417955:p.Ser844Tyr		98219483	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107897	0.56291	.	.	ENSG00000168658	ENST00000477737	T	0.09163	3.01	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000009	T	0.30978	0.0782	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.91635	0.971;0.979;0.962;0.999	T	0.01977	-1.1236	10	0.87932	D	0	.	17.2494	0.87038	0.0:1.0:0.0:0.0	.	236;844;844;844	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	Y	844	ENSP00000417955:S844Y	ENSP00000417955:S844Y	S	+	2	0	VWA3B	98219483	1.000000	0.71417	0.700000	0.30305	0.522000	0.34438	4.962000	0.63687	2.429000	0.82318	0.591000	0.81541	TCT		0.438	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
CNGA3	1261	broad.mit.edu	37	2	98986517	98986517	+	Missense_Mutation	SNP	C	C	T	rs149069990		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:98986517C>T	ENST00000272602.2	+	1	118	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	CNGA3_ENST00000393504.1_Missense_Mutation_p.R27C|CNGA3_ENST00000436404.2_Missense_Mutation_p.R27C			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	27					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.R27C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGATCTCAATCGCGCTGAAAA	0.502																																					p.R27C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C79T	2						.	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	108.0	116.0		79,79	-6.0	0.0	2	dbSNP_134	116	0,8600		0,0,4300	no	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	27/677,27/695	98986517	1,13005	2203	4300	6503	98352949	SO:0001583	missense	1261	exon2			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.79C>T	2.37:g.98986517C>T	ENSP00000272602:p.Arg27Cys		98352949	NM_001298	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125328	0.20959	2.27E-4	0.0	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	D;D;D	0.97731	-4.51;-4.45;-4.51	4.2	-5.98	0.02220	.	.	.	.	.	D	0.91540	0.7328	N	0.17474	0.49	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.04013	0.0;0.001	T	0.82528	-0.0412	9	0.49607	T	0.09	.	5.3574	0.16069	0.2518:0.1951:0.0:0.5531	.	27;27	Q4VAP7;Q16281	.;CNGA3_HUMAN	C	27	ENSP00000377140:R27C;ENSP00000410070:R27C;ENSP00000272602:R27C	ENSP00000272602:R27C	R	+	1	0	CNGA3	98352949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.285000	0.08410	-1.149000	0.02843	-0.783000	0.03347	CGC		0.502	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	
INPP4A	3631	broad.mit.edu	37	2	99169414	99169414	+	Silent	SNP	C	C	T	rs137960574	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:99169414C>T	ENST00000523221.1	+	13	1344	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	INPP4A_ENST00000409540.3_Silent_p.L448L|INPP4A_ENST00000409851.3_Silent_p.L443L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Silent_p.L448L|INPP4A_ENST00000074304.5_Silent_p.L448L|INPP4A_ENST00000545415.1_Silent_p.L448L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	448					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.L448L(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAGGACACTCGCCATCTTGG	0.577													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21217	0.0		0.001	False		,,,				2504	0.0				p.L443L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C1329T	2						.	C	,,,	0,4012		0,0,2006	37.0	37.0	37.0		1344,1329,1344,1344	-10.1	0.0	2	dbSNP_134	37	2,8330		0,2,4164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	INPP4A	NM_001134224.1,NM_001134225.1,NM_001566.2,NM_004027.2	,,,	0,2,6170	TT,TC,CC		0.024,0.0,0.0162	,,,	448/978,443/973,448/955,448/939	99169414	2,12342	2006	4166	6172	98535846	SO:0001819	synonymous_variant	3631	exon14			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1344C>T	2.37:g.99169414C>T			98535846	NM_001134225	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	CCDS46369.1																																																																																				0.577	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
INPP4A	3631	broad.mit.edu	37	2	99203982	99203982	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:99203982C>T	ENST00000523221.1	+	24	2845	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	INPP4A_ENST00000409851.3_Missense_Mutation_p.R944C|INPP4A_ENST00000409463.1_Missense_Mutation_p.R278C|INPP4A_ENST00000409016.4_Missense_Mutation_p.R910C|INPP4A_ENST00000074304.5_Missense_Mutation_p.R949C|INPP4A_ENST00000545415.1_Missense_Mutation_p.R910C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	949					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.R949C(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGTTGGAAGTCGCAAATATGC	0.423																																					p.R944C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2830T	2						.						90.0	86.0	87.0					2																	99203982		1866	4085	5951	98570414	SO:0001583	missense	3631	exon25			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2845C>T	2.37:g.99203982C>T	ENSP00000427722:p.Arg949Cys		98570414	NM_001134225	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248318	0.95305	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000523221	T;T;T;T;T;T	0.50277	1.62;1.96;0.75;1.96;1.62;1.96	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.975;0.999;0.999	T	0.74526	-0.3636	10	0.72032	D	0.01	-22.8426	18.4048	0.90532	0.0:1.0:0.0:0.0	.	910;278;949;944	Q96PE3-2;B8ZZB2;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	C	910;944;278;949;910;949	ENSP00000386704:R910C;ENSP00000386777:R944C;ENSP00000386329:R278C;ENSP00000074304:R949C;ENSP00000442149:R910C;ENSP00000427722:R949C	ENSP00000074304:R949C	R	+	1	0	INPP4A	98570414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.818000	0.69236	2.824000	0.97209	0.655000	0.94253	CGC		0.423	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	
TSGA10	80705	broad.mit.edu	37	2	99767156	99767156	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:99767156G>T	ENST00000393483.3	-	1	225				C2ORF15_ENST00000409684.1_Missense_Mutation_p.K79N|C2ORF15_ENST00000302513.2_Missense_Mutation_p.K79N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.K79N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AAAACACCAAGAAAATAAGAT	0.388																																					p.K79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	2						.						73.0	75.0	75.0					2																	99767156		2203	4300	6503	99133588	SO:0001627	intron_variant	150590	exon4			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+3999C>A	2.37:g.99767156G>T			99133588	NM_144706	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294693	0.40594	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	4.89	2.88	0.33553	.	.	.	.	.	T	0.29093	0.0723	N	0.08118	0	0.80722	D	1	B	0.28552	0.215	B	0.30179	0.112	T	0.16424	-1.0403	8	0.87932	D	0	-4.5683	4.4966	0.11840	0.1166:0.0:0.6608:0.2226	.	79	Q8WU43	CB015_HUMAN	N	79	.	ENSP00000302202:K79N	K	+	3	2	C2orf15	99133588	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.667000	0.25112	1.222000	0.43521	0.462000	0.41574	AAG		0.388	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	
LIPT1	51601	broad.mit.edu	37	2	99778797	99778797	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:99778797G>T	ENST00000393473.2	+	3	601	c.377G>T	c.(376-378)aGa>aTa	p.R126I	LIPT1_ENST00000393477.3_Missense_Mutation_p.R126I|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.R126I|LIPT1_ENST00000393471.2_Missense_Mutation_p.R126I|LIPT1_ENST00000393474.3_Missense_Mutation_p.R126I	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	126	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)	p.R126I(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAGTATGATAGAATGGAAAAT	0.393																																					p.R126I	GBM(84;665 1268 21657 25485 30647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377T	2						.						50.0	50.0	50.0					2																	99778797		2203	4300	6503	99145229	SO:0001583	missense	51601	exon4			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.377G>T	2.37:g.99778797G>T	ENSP00000377115:p.Arg126Ile		99145229	NM_145197	Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513855	0.85389	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566	D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	4.9	4.9	0.64082	Biotin/lipoate A/B protein ligase (1);	0.000000	0.85682	D	0.000000	D	0.96065	0.8718	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96071	0.9046	10	0.56958	D	0.05	-2.0447	17.2441	0.87022	0.0:0.0:1.0:0.0	.	126	Q9Y234	LIPT_HUMAN	I	126	ENSP00000377115:R126I;ENSP00000377118:R126I;ENSP00000377116:R126I;ENSP00000342071:R126I;ENSP00000377114:R126I;ENSP00000387387:R126I;ENSP00000393591:R126I	ENSP00000342071:R126I	R	+	2	0	LIPT1	99145229	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.595000	0.98260	2.553000	0.86117	0.650000	0.86243	AGA		0.393	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929	
LIPT1	51601	broad.mit.edu	37	2	99779515	99779515	+	Silent	SNP	C	C	T	rs148385959		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:99779515C>T	ENST00000393473.2	+	3	1319	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	LIPT1_ENST00000393477.3_Silent_p.L365L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Silent_p.L365L|LIPT1_ENST00000393471.2_Silent_p.L365L|LIPT1_ENST00000393474.3_Silent_p.L365L	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	365					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)	p.L365L(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GGAATATTCTCTGTGAAAAAA	0.303																																					p.L365L	GBM(84;665 1268 21657 25485 30647)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1095T	2						.						40.0	39.0	39.0					2																	99779515		1977	4184	6161	99145947	SO:0001819	synonymous_variant	51601	exon4			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.1095C>T	2.37:g.99779515C>T			99145947	NM_145197	Q4ZFZ1	Silent	SNP	ENST00000393473.2	37	CCDS2039.1																																																																																				0.303	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929	
EIF5B	9669	broad.mit.edu	37	2	100006294	100006294	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100006294T>C	ENST00000289371.6	+	15	2587	c.2385T>C	c.(2383-2385)atT>atC	p.I795I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	795	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.I795I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCTATTATTGTAGAATTTG	0.353																																					p.I795I	Colon(162;2388 2567 2705 3444)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2385C	2						.						82.0	77.0	78.0					2																	100006294		1822	4084	5906	99372726	SO:0001819	synonymous_variant	9669	exon15			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2385T>C	2.37:g.100006294T>C			99372726	NM_015904	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	ENST00000289371.6	37	CCDS42721.1																																																																																				0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
REV1	51455	broad.mit.edu	37	2	100022947	100022947	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100022947C>A	ENST00000258428.3	-	16	2682	c.2454G>T	c.(2452-2454)ggG>ggT	p.G818G	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Silent_p.G817G|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	818					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.G818G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGAATCCCAACCTAGA	0.418								Direct reversal of damage																													p.G818G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2454T	2						.						61.0	62.0	62.0					2																	100022947		2203	4300	6503	99389379	SO:0001819	synonymous_variant	51455	exon16			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2454G>T	2.37:g.100022947C>A			99389379	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.418	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
REV1	51455	broad.mit.edu	37	2	100027203	100027203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100027203C>A	ENST00000258428.3	-	14	2527	c.2299G>T	c.(2299-2301)Gaa>Taa	p.E767*	REV1_ENST00000393445.3_Nonsense_Mutation_p.E766*|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	767					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.E767*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGCAGTTTCTACAGGAGCC	0.403								Direct reversal of damage																													p.E767X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2299T	2						.						119.0	114.0	116.0					2																	100027203		2203	4300	6503	99393635	SO:0001587	stop_gained	51455	exon14			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2299G>T	2.37:g.100027203C>A	ENSP00000258428:p.Glu767*		99393635	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Nonsense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	43	9.910501	0.99293	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.0357	0.92976	0.0:1.0:0.0:0.0	.	.	.	.	X	766;767	.	ENSP00000258428:E767X	E	-	1	0	REV1	99393635	1.000000	0.71417	0.833000	0.33012	0.962000	0.63368	7.347000	0.79356	2.559000	0.86315	0.650000	0.86243	GAA		0.403	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
REV1	51455	broad.mit.edu	37	2	100038009	100038009	+	Missense_Mutation	SNP	G	G	A	rs560500168		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100038009G>A	ENST00000258428.3	-	11	2011	c.1783C>T	c.(1783-1785)Cgt>Tgt	p.R595C	REV1_ENST00000393445.3_Missense_Mutation_p.R594C|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	595	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.R595C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTTCCATACGAACAGCATTT	0.398								Direct reversal of damage																													p.R595C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1783T	2						.						193.0	176.0	182.0					2																	100038009		2203	4300	6503	99404441	SO:0001583	missense	51455	exon11			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1783C>T	2.37:g.100038009G>A	ENSP00000258428:p.Arg595Cys		99404441	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629831	0.87660	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.80304	-1.36;-1.36	5.59	5.59	0.84812	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93799	0.7099	10	0.87932	D	0	.	19.5763	0.95446	0.0:0.0:1.0:0.0	.	595;594	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	C	594;595	ENSP00000377091:R594C;ENSP00000258428:R595C	ENSP00000258428:R595C	R	-	1	0	REV1	99404441	1.000000	0.71417	0.943000	0.38184	0.991000	0.79684	6.765000	0.74965	2.646000	0.89796	0.655000	0.94253	CGT		0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
AFF3	3899	broad.mit.edu	37	2	100343547	100343547	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100343547C>T	ENST00000409236.2	-	9	1195	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	AFF3_ENST00000317233.4_Silent_p.S361S|AFF3_ENST00000409579.1_Silent_p.S386S|AFF3_ENST00000356421.2_Silent_p.S386S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	361					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S386S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACGATGTATTCGATGTGCCAC	0.348																																					p.S386S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1158A	2						.						84.0	82.0	83.0					2																	100343547		2203	4300	6503	99709979	SO:0001819	synonymous_variant	3899	exon10			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1083G>A	2.37:g.100343547C>T			99709979	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.348	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
AFF3	3899	broad.mit.edu	37	2	100623208	100623208	+	Silent	SNP	C	C	T	rs371774868		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:100623208C>T	ENST00000409236.2	-	5	871	c.759G>A	c.(757-759)tcG>tcA	p.S253S	AFF3_ENST00000317233.4_Silent_p.S253S|AFF3_ENST00000409579.1_Silent_p.S278S|AFF3_ENST00000356421.2_Silent_p.S278S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	253					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S278S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTCCGAAGACGACTTCAGCT	0.582																																					p.S278S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834A	2						.	C	,	3,4403	6.2+/-15.9	0,3,2200	69.0	65.0	66.0		834,759	-11.1	0.0	2		66	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	278/1252,253/1227	100623208	3,13003	2203	4300	6503	99989640	SO:0001819	synonymous_variant	3899	exon6			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.759G>A	2.37:g.100623208C>T			99989640	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	CCDS42723.1																																																																																				0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
RTP5	285093	broad.mit.edu	37	2	242815145	242815145	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:242815145G>A	ENST00000343216.3	+	2	1466	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N		NM_173821.2	NP_776182.2												p.D480N(1)									CGCAGTCTTCGATGTCATAAA	0.632																																					p.D480N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1438A	2						.						68.0	79.0	75.0					2																	242815145		2080	4195	6275	242463818	SO:0001583	missense	285093	exon2																														ENST00000343216.3:c.1438G>A	2.37:g.242815145G>A	ENSP00000345374:p.Asp480Asn		242463818	NM_173821		Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	3.178	-0.168439	0.06461	.	.	ENSG00000188011	ENST00000343216	T	0.23147	1.92	2.14	-1.88	0.07713	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.10450	0.005	T	0.24512	-1.0158	9	0.87932	D	0	-0.5758	5.867	0.18781	0.4754:0.0:0.5246:0.0	.	480	Q14D33	CB085_HUMAN	N	480	ENSP00000345374:D480N	ENSP00000345374:D480N	D	+	1	0	C2orf85	242463818	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-3.009000	0.00648	-0.440000	0.07211	0.196000	0.17591	GAT		0.632	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1		
SUSD1	64420	broad.mit.edu	37	9	114911559	114911561	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114911559_114911561delTTG	ENST00000374270.3	-	3	508_510	c.336_338delCAA	c.(334-339)aacaag>aag	p.N112del	SUSD1_ENST00000374263.3_In_Frame_Del_p.N112del|SUSD1_ENST00000374264.2_In_Frame_Del_p.N112del	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	112	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.N112delN(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AATGAATGTCTTGTTGTTGTTTG	0.507																																					p.112_113del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.336_338del	9						.																																			113951382	SO:0001651	inframe_deletion	64420	exon3			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.336_338delCAA	9.37:g.114911565_114911567delTTG	ENSP00000363388:p.Asn112del		113951380	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	In_Frame_Del	DEL	ENST00000374270.3	37	CCDS6783.1																																																																																				0.507	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
JAK2	3717	broad.mit.edu	37	9	5089745	5089745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5089745delA	ENST00000381652.3	+	20	3137	c.2643delA	c.(2641-2643)gtafs	p.V881fs	JAK2_ENST00000539801.1_Frame_Shift_Del_p.V881fs|JAK2_ENST00000544510.1_Frame_Shift_Del_p.V732fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	881	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.K883fs*10(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TGGTCGCTGTAAAAAAGCTTC	0.433		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.V881fs			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2643delA	9						.						138.0	125.0	129.0					9																	5089745		2203	4300	6503	5079745	SO:0001589	frameshift_variant	3717	exon20	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2643delA	9.37:g.5089745delA	ENSP00000371067:p.Val881fs		5079745	NM_004972	O14636|O75297	Frame_Shift_Del	DEL	ENST00000381652.3	37	CCDS6457.1																																																																																				0.433	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
GOLM1	51280	broad.mit.edu	37	9	88648284	88648286	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88648284_88648286delCTC	ENST00000388712.3	-	9	1208_1210	c.1040_1042delGAG	c.(1039-1044)ggagaa>gaa	p.G347del	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_In_Frame_Del_p.G347del	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	347					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.G347delG(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TAGTCATCTTCTCCTCTCAGTTT	0.429																																					p.347_348del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1040_1042del	9						.																																			87838106	SO:0001651	inframe_deletion	51280	exon9			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.1040_1042delGAG	9.37:g.88648287_88648289delCTC	ENSP00000373364:p.Gly347del		87838104	NM_177937	Q6IAF4|Q9NRB9	In_Frame_Del	DEL	ENST00000388712.3	37	CCDS35054.1																																																																																				0.429	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	
TBC1D2	55357	broad.mit.edu	37	9	100961815	100961815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100961815G>A	ENST00000375066.5	-	13	2693	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R419W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R661W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	879					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.R868W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCAGCTGCCGCAGCTGTTTC	0.637																																					p.R868W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2602T	9						.						134.0	139.0	137.0					9																	100961815		2203	4299	6502	100001636	SO:0001583	missense	55357	exon13			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2602C>T	9.37:g.100961815G>A	ENSP00000364207:p.Arg868Trp		100001636	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300297	0.60195	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09911	2.93;3.38;3.01	5.51	3.51	0.40186	.	0.272292	0.34603	N	0.003838	T	0.13372	0.0324	M	0.76328	2.33	0.30554	N	0.765152	B;P	0.35982	0.396;0.531	B;B	0.31495	0.062;0.131	T	0.09335	-1.0679	10	0.87932	D	0	.	10.2646	0.43447	0.0824:0.0:0.757:0.1607	.	879;868	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	W	868;661;419	ENSP00000364207:R868W;ENSP00000341567:R661W;ENSP00000364203:R419W	ENSP00000341567:R661W	R	-	1	2	TBC1D2	100001636	0.025000	0.19082	0.986000	0.45419	0.658000	0.38924	0.841000	0.27613	1.330000	0.45394	0.511000	0.50034	CGG		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421	
TBC1D2	55357	broad.mit.edu	37	9	100965685	100965685	+	Missense_Mutation	SNP	G	G	A	rs201501022		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100965685G>A	ENST00000375064.1	-	10	2194	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A719V|TBC1D2_ENST00000375063.1_Missense_Mutation_p.A259V|TBC1D2_ENST00000342112.5_Missense_Mutation_p.A501V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	719	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A719V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GGCAATGGCCGCCAGCCTGGA	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18445	0.0		0.0	False		,,,				2504	0.0				p.A719V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2156T	9						.						89.0	83.0	85.0					9																	100965685		2203	4300	6503	100005506	SO:0001583	missense	55357	exon10			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2156C>T	9.37:g.100965685G>A	ENSP00000364205:p.Ala719Val		100005506	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	18.25	3.583376	0.65992	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.04406	3.63;3.63;3.63;3.63	5.35	5.35	0.76521	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.17410	-1.0370	10	0.21014	T	0.42	.	17.8634	0.88789	0.0:0.0:1.0:0.0	.	719;719	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	V	719;719;501;259	ENSP00000364205:A719V;ENSP00000364207:A719V;ENSP00000341567:A501V;ENSP00000364203:A259V	ENSP00000341567:A501V	A	-	2	0	TBC1D2	100005506	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	4.777000	0.62361	2.503000	0.84419	0.655000	0.94253	GCG		0.612	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
TBC1D2	55357	broad.mit.edu	37	9	101006343	101006343	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101006343C>T	ENST00000375064.1	-	3	618	c.580G>A	c.(580-582)Gca>Aca	p.A194T	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A194T|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	194				Missing (in Ref. 4; BAG60767). {ECO:0000305}.	positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.A194T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AAGGCAGCTGCCACGCCCACT	0.562																																					p.A194T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	9						.						31.0	30.0	30.0					9																	101006343		2203	4300	6503	100046164	SO:0001583	missense	55357	exon3			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.580G>A	9.37:g.101006343C>T	ENSP00000364205:p.Ala194Thr		100046164	NM_018421	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37		.	.	.	.	.	.	.	.	.	.	C	5.826	0.336685	0.11013	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.08282	3.4;3.11	5.08	4.18	0.49190	.	0.634145	0.14937	N	0.289764	T	0.11153	0.0272	M	0.65975	2.015	0.35207	D	0.774756	B;B	0.18863	0.031;0.029	B;B	0.15484	0.006;0.013	T	0.04255	-1.0965	10	0.34782	T	0.22	.	9.789	0.40695	0.0:0.9048:0.0:0.0952	.	194;194	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	T	194	ENSP00000364205:A194T;ENSP00000364207:A194T	ENSP00000364205:A194T	A	-	1	0	TBC1D2	100046164	0.001000	0.12720	0.074000	0.20217	0.126000	0.20510	0.703000	0.25646	1.150000	0.42419	-0.126000	0.14955	GCA		0.562	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
GABBR2	9568	broad.mit.edu	37	9	101056076	101056076	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101056076G>T	ENST00000259455.2	-	18	3110	c.2651C>A	c.(2650-2652)tCt>tAt	p.S884Y		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	884					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.S884Y(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CTGTTCTGGAGAGTTTATATC	0.398																																					p.S884Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2651A	9						.						206.0	200.0	202.0					9																	101056076		2203	4300	6503	100095897	SO:0001583	missense	9568	exon18			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2651C>A	9.37:g.101056076G>T	ENSP00000259455:p.Ser884Tyr		100095897	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465232	0.84425	.	.	ENSG00000136928	ENST00000259455	D	0.83914	-1.78	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	N	0.14661	0.345	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	D	0.86574	0.1849	10	0.87932	D	0	-27.576	16.0535	0.80777	0.0:0.0:1.0:0.0	.	884	O75899	GABR2_HUMAN	Y	884	ENSP00000259455:S884Y	ENSP00000259455:S884Y	S	-	2	0	GABBR2	100095897	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.048000	0.93830	2.641000	0.89580	0.650000	0.86243	TCT		0.398	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
GABBR2	9568	broad.mit.edu	37	9	101068622	101068622	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101068622G>A	ENST00000259455.2	-	15	2469	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	670					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.F670F(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGAAACAACCGAACAACTGAA	0.532																																					p.F670F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2010T	9						.						66.0	48.0	54.0					9																	101068622		2203	4300	6503	100108443	SO:0001819	synonymous_variant	9568	exon15			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2010C>T	9.37:g.101068622G>A			100108443	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																				0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
GABBR2	9568	broad.mit.edu	37	9	101147978	101147978	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101147978G>T	ENST00000259455.2	-	11	2065	c.1606C>A	c.(1606-1608)Ctc>Atc	p.L536I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	536					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.L536I(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCAAAGAGAAATATGGAA	0.408																																					p.L536I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1606A	9						.						158.0	143.0	148.0					9																	101147978		2203	4300	6503	100187799	SO:0001583	missense	9568	exon11			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1606C>A	9.37:g.101147978G>T	ENSP00000259455:p.Leu536Ile		100187799	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516044	0.85495	.	.	ENSG00000136928	ENST00000259455	D	0.88975	-2.45	5.74	5.74	0.90152	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93942	0.7224	10	0.42905	T	0.14	-29.4607	17.4111	0.87486	0.0:0.0:1.0:0.0	.	536	O75899	GABR2_HUMAN	I	536	ENSP00000259455:L536I	ENSP00000259455:L536I	L	-	1	0	GABBR2	100187799	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.972000	0.88022	2.707000	0.92482	0.563000	0.77884	CTC		0.408	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
ANKS6	203286	broad.mit.edu	37	9	101498866	101498866	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101498866A>C	ENST00000353234.4	-	15	2598	c.2551T>G	c.(2551-2553)Ttt>Gtt	p.F851V	ANKS6_ENST00000540940.1_Missense_Mutation_p.F656V|ANKS6_ENST00000375018.1_Missense_Mutation_p.F852V|ANKS6_ENST00000375019.2_Missense_Mutation_p.F550V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	851						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.F851V(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GAAGAGTGAAAGTTGTGAATG	0.488																																					p.F851V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2551G	9						.						85.0	88.0	87.0					9																	101498866		1935	4131	6066	100538687	SO:0001583	missense	203286	exon15			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2551T>G	9.37:g.101498866A>C	ENSP00000297837:p.Phe851Val		100538687	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.7|24.7	4.563525|4.563525	0.86335|0.86335	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.71341|.	1.67;-0.56;-0.56;1.85|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52386|0.52386	0.1731|0.1731	L|L	0.27053|0.27053	0.805|0.805	0.43263|0.43263	D|D	0.995207|0.995207	D;D|.	0.69078|.	0.997;0.995|.	D;D|.	0.77557|.	0.99;0.966|.	T|T	0.49495|0.49495	-0.8934|-0.8934	10|5	0.87932|.	D|.	0|.	-24.8418|-24.8418	13.5089|13.5089	0.61499|0.61499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	852;851|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	V|R	550;852;851;656|320	ENSP00000364159:F550V;ENSP00000364158:F852V;ENSP00000297837:F851V;ENSP00000442189:F656V|.	ENSP00000297837:F851V|.	F|L	-|-	1|2	0|0	ANKS6|ANKS6	100538687|100538687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.225000|8.225000	0.89784|0.89784	2.134000|2.134000	0.65973|0.65973	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.488	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
ANKS6	203286	broad.mit.edu	37	9	101536358	101536358	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101536358C>T	ENST00000353234.4	-	9	1669	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ANKS6_ENST00000540940.1_Missense_Mutation_p.R346Q|ANKS6_ENST00000375018.1_Missense_Mutation_p.R541Q|ANKS6_ENST00000375019.2_Missense_Mutation_p.R240Q			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541						cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R541Q(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGCTCCGTTTCGAAGCTGAAA	0.557																																					p.R541Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622A	9						.						32.0	36.0	35.0					9																	101536358		1903	4122	6025	100576179	SO:0001583	missense	203286	exon9			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1622G>A	9.37:g.101536358C>T	ENSP00000297837:p.Arg541Gln		100576179	NM_173551	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717000	0.89205	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.69561	1.75;-0.41;-0.41;2.02	5.48	5.48	0.80851	.	0.107337	0.64402	D	0.000008	T	0.73621	0.3610	M	0.61703	1.905	0.37218	D	0.905118	D;D	0.71674	0.998;0.996	P;P	0.59115	0.852;0.715	T	0.76146	-0.3066	10	0.38643	T	0.18	-11.1796	10.3084	0.43693	0.0:0.9104:0.0:0.0896	.	541;541	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	Q	240;541;541;346	ENSP00000364159:R240Q;ENSP00000364158:R541Q;ENSP00000297837:R541Q;ENSP00000442189:R346Q	ENSP00000297837:R541Q	R	-	2	0	ANKS6	100576179	1.000000	0.71417	0.954000	0.39281	0.946000	0.59487	5.237000	0.65360	2.580000	0.87095	0.561000	0.74099	CGA		0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551	
GALNT12	79695	broad.mit.edu	37	9	101608371	101608371	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101608371C>A	ENST00000375011.3	+	9	1571	c.1571C>A	c.(1570-1572)aCt>aAt	p.T524N	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	524	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T524N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGCGAAGAAACTGCCCCAGAG	0.507																																					p.T524N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1571A	9						.						141.0	128.0	132.0					9																	101608371		2203	4300	6503	100648192	SO:0001583	missense	79695	exon9			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1571C>A	9.37:g.101608371C>A	ENSP00000364150:p.Thr524Asn		100648192	NM_024642	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	6.051	0.377772	0.11466	.	.	ENSG00000119514	ENST00000375011	T	0.27890	1.64	5.93	0.364	0.16124	Ricin B-related lectin (1);Ricin B lectin (3);	0.979266	0.08341	N	0.960936	T	0.14141	0.0342	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32481	-0.9905	10	0.16896	T	0.51	.	0.9416	0.01356	0.2403:0.3985:0.1143:0.2469	.	524	Q8IXK2	GLT12_HUMAN	N	524	ENSP00000364150:T524N	ENSP00000364150:T524N	T	+	2	0	GALNT12	100648192	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.188000	0.17018	0.127000	0.18452	-0.140000	0.14226	ACT		0.507	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642	
COL15A1	1306	broad.mit.edu	37	9	101748145	101748145	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101748145G>A	ENST00000375001.3	+	3	822	c.399G>A	c.(397-399)cgG>cgA	p.R133R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	133	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.R133R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCACCAGCGGATCATCCTCT	0.627																																					p.R133R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G399A	9						.						90.0	84.0	86.0					9																	101748145		2203	4300	6503	100787966	SO:0001819	synonymous_variant	1306	exon3			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.399G>A	9.37:g.101748145G>A			100787966	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101759254	101759254	+	Silent	SNP	A	A	G	rs143370845	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101759254A>G	ENST00000375001.3	+	6	1266	c.843A>G	c.(841-843)ccA>ccG	p.P281P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	281	Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.P281P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACACACCTCCAACTCCATCCT	0.473																																					p.P281P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A843G	9						.	A		5,4401	9.9+/-24.2	0,5,2198	196.0	184.0	188.0		843	-3.4	0.0	9	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous	COL15A1	NM_001855.3		0,5,6498	GG,GA,AA		0.0,0.1135,0.0384		281/1389	101759254	5,13001	2203	4300	6503	100799075	SO:0001819	synonymous_variant	1306	exon6			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.843A>G	9.37:g.101759254A>G			100799075	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.473	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101802809	101802809	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101802809G>A	ENST00000375001.3	+	23	2905	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	828	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.D828N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACAGGGGCCGGACGGGTTGCC	0.582																																					p.D828N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2482A	9						.						178.0	155.0	163.0					9																	101802809		2203	4300	6503	100842630	SO:0001583	missense	1306	exon23			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2482G>A	9.37:g.101802809G>A	ENSP00000364140:p.Asp828Asn		100842630	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468569	0.26335	.	.	ENSG00000204291	ENST00000375001	D	0.93488	-3.23	5.51	5.51	0.81932	.	0.564773	0.19101	N	0.122687	D	0.91845	0.7419	L	0.39514	1.22	0.32822	D	0.502872	P	0.41784	0.762	P	0.48063	0.565	D	0.91169	0.4967	10	0.18276	T	0.48	-9.3415	14.9066	0.70724	0.0:0.0:1.0:0.0	.	828	P39059	COFA1_HUMAN	N	828	ENSP00000364140:D828N	ENSP00000364140:D828N	D	+	1	0	COL15A1	100842630	0.975000	0.34042	0.066000	0.19879	0.388000	0.30384	3.797000	0.55514	2.582000	0.87167	0.655000	0.94253	GAC		0.582	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101804386	101804386	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101804386A>G	ENST00000375001.3	+	24	2994	c.2571A>G	c.(2569-2571)gaA>gaG	p.E857E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	857	Collagen-like 3.|Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.E857E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TAAAAGGAGAACAGGTAAGAG	0.423																																					p.E857E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2571G	9						.						85.0	94.0	91.0					9																	101804386		2203	4300	6503	100844207	SO:0001819	synonymous_variant	1306	exon24			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2571A>G	9.37:g.101804386A>G			100844207	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.423	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101831961	101831961	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101831961G>T	ENST00000375001.3	+	42	4383	c.3960G>T	c.(3958-3960)caG>caT	p.Q1320H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1320	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.Q1320H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ATAGGCCCCAGAAAGTCATTT	0.448																																					p.Q1320H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3960T	9						.						102.0	111.0	108.0					9																	101831961		2203	4300	6503	100871782	SO:0001583	missense	1306	exon42			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3960G>T	9.37:g.101831961G>T	ENSP00000364140:p.Gln1320His		100871782	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.958017	0.34565	.	.	ENSG00000204291	ENST00000375001	T	0.48522	0.81	6.17	3.35	0.38373	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.165028	0.56097	D	0.000040	T	0.48314	0.1493	L	0.58810	1.83	0.51233	D	0.999918	P	0.49253	0.921	P	0.49829	0.623	T	0.48570	-0.9024	10	0.72032	D	0.01	-5.78	5.7736	0.18267	0.206:0.0:0.6475:0.1465	.	1320	P39059	COFA1_HUMAN	H	1320	ENSP00000364140:Q1320H	ENSP00000364140:Q1320H	Q	+	3	2	COL15A1	100871782	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	1.394000	0.34509	0.926000	0.37118	0.655000	0.94253	CAG		0.448	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
COL15A1	1306	broad.mit.edu	37	9	101832136	101832136	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:101832136G>A	ENST00000375001.3	+	42	4558	c.4135G>A	c.(4135-4137)Gaa>Aaa	p.E1379K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1379	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.E1379K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTATGTATCGAAAACAGTTT	0.443																																					p.E1379K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4135A	9						.						88.0	79.0	82.0					9																	101832136		2203	4300	6503	100871957	SO:0001583	missense	1306	exon42			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4135G>A	9.37:g.101832136G>A	ENSP00000364140:p.Glu1379Lys		100871957	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726379	0.69074	.	.	ENSG00000204291	ENST00000375001	T	0.61859	0.07	6.17	5.28	0.74379	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.046338	0.85682	N	0.000000	T	0.69557	0.3124	M	0.86178	2.8	0.80722	D	1	D	0.61697	0.99	P	0.49561	0.615	T	0.76857	-0.2804	10	0.87932	D	0	-30.6522	14.5279	0.67902	0.0708:0.0:0.9292:0.0	.	1379	P39059	COFA1_HUMAN	K	1379	ENSP00000364140:E1379K	ENSP00000364140:E1379K	E	+	1	0	COL15A1	100871957	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.837000	0.99465	1.627000	0.50400	0.655000	0.94253	GAA		0.443	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
NR4A3	8013	broad.mit.edu	37	9	102595062	102595062	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:102595062G>A	ENST00000395097.2	+	4	1772	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	NR4A3_ENST00000338488.4_Missense_Mutation_p.R348Q|NR4A3_ENST00000330847.1_Missense_Mutation_p.R359Q	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	348					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.R359Q(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAGTACTGTCGATTTCAGAAG	0.363			T	EWSR1	extraskeletal myxoid chondrosarcoma																																p.R348Q			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1043A	9						.						136.0	131.0	133.0					9																	102595062		2203	4300	6503	101634883	SO:0001583	missense	8013	exon4			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1043G>A	9.37:g.102595062G>A	ENSP00000378531:p.Arg348Gln		101634883	NM_173199	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874634	0.91664	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.98550	-4.99;-4.99;-4.99	5.6	5.6	0.85130	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.97999	1.0359	10	0.87932	D	0	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	359;348;348	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	Q	348;348;172;359	ENSP00000378531:R348Q;ENSP00000340301:R348Q;ENSP00000333122:R359Q	ENSP00000333122:R359Q	R	+	2	0	NR4A3	101634883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.788000	0.95919	0.650000	0.86243	CGA		0.363	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1		
NR4A3	8013	broad.mit.edu	37	9	102595662	102595662	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:102595662C>A	ENST00000395097.2	+	5	1909	c.1180C>A	c.(1180-1182)Cct>Act	p.P394T	NR4A3_ENST00000338488.4_Missense_Mutation_p.P394T|NR4A3_ENST00000330847.1_Missense_Mutation_p.P405T	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	394					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.P405T(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCACCTTCTCCTCCAATCTG	0.463			T	EWSR1	extraskeletal myxoid chondrosarcoma																																p.P394T			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1180A	9						.						199.0	178.0	185.0					9																	102595662		2203	4300	6503	101635483	SO:0001583	missense	8013	exon5			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1180C>A	9.37:g.102595662C>A	ENSP00000378531:p.Pro394Thr		101635483	NM_173199	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501974	0.64298	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	T;D;T	0.89552	0.57;-2.53;0.57	5.71	5.71	0.89125	Nuclear hormone receptor, ligand-binding (2);	0.238952	0.43110	D	0.000616	D	0.91965	0.7455	L	0.45137	1.4	0.80722	D	1	D;P;P	0.89917	1.0;0.855;0.537	D;B;B	0.91635	0.999;0.443;0.316	D	0.87443	0.2396	10	0.13470	T	0.59	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	405;394;394	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	T	394;394;218;405	ENSP00000378531:P394T;ENSP00000340301:P394T;ENSP00000333122:P405T	ENSP00000333122:P405T	P	+	1	0	NR4A3	101635483	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.621000	0.67743	2.861000	0.98227	0.650000	0.86243	CCT		0.463	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1		
STX17	55014	broad.mit.edu	37	9	102730806	102730806	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:102730806A>G	ENST00000259400.6	+	8	896	c.760A>G	c.(760-762)Aaa>Gaa	p.K254E	STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Missense_Mutation_p.K254E|STX17_ENST00000525640.1_Missense_Mutation_p.K254E	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	254	Necessary and sufficient for localization to autophagosome.				autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.K254E(1)		endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TGCAGGCTTCAAAGTGGCAGG	0.502																																					p.K254E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A760G	9						.						47.0	54.0	52.0					9																	102730806		2203	4300	6503	101770627	SO:0001583	missense	55014	exon8			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.760A>G	9.37:g.102730806A>G	ENSP00000259400:p.Lys254Glu		101770627	NM_017919	Q4VXC2	Missense_Mutation	SNP	ENST00000259400.6	37	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133063	0.77662	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.76170	2.325	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.80975	-0.1142	9	0.72032	D	0.01	-15.3343	13.8021	0.63206	1.0:0.0:0.0:0.0	.	254	P56962	STX17_HUMAN	E	254	.	ENSP00000259400:K254E	K	+	1	0	STX17	101770627	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.047000	0.89440	1.999000	0.58509	0.533000	0.62120	AAA		0.502	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919	
ERP44	23071	broad.mit.edu	37	9	102861078	102861078	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:102861078G>T	ENST00000262455.6	-	1	244	c.45C>A	c.(43-45)tcC>tcA	p.S15S	INVS_ENST00000262457.2_5'Flank|INVS_ENST00000374921.3_5'Flank|INVS_ENST00000262456.2_5'Flank|INVS_ENST00000541287.1_5'Flank	NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	15					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)	p.S15S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GGAGCAGAAGGGAGCATCTGA	0.637																																					p.S15S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C45A	9						.						159.0	127.0	138.0					9																	102861078		2203	4300	6503	101900899	SO:0001819	synonymous_variant	23071	exon1			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.45C>A	9.37:g.102861078G>T			101900899	NM_015051	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Silent	SNP	ENST00000262455.6	37	CCDS35082.1																																																																																				0.637	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053402.1	XM_088476	
TEX10	54881	broad.mit.edu	37	9	103111552	103111552	+	Missense_Mutation	SNP	T	T	G	rs574362745		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:103111552T>G	ENST00000374902.4	-	2	270	c.94A>C	c.(94-96)Aac>Cac	p.N32H	TEX10_ENST00000535814.1_Missense_Mutation_p.N35H|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	32						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.N32H(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GTTTTAAAGTTTGTAGGAGTA	0.318																																					p.N32H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A94C	9						.						156.0	146.0	149.0					9																	103111552		2203	4300	6503	102151373	SO:0001583	missense	54881	exon2			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.94A>C	9.37:g.103111552T>G	ENSP00000364037:p.Asn32His		102151373	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732049	0.48939	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.51	4.35	0.52113	.	0.131884	0.64402	D	0.000002	T	0.67059	0.2853	M	0.66939	2.045	0.80722	D	1	D;P;D	0.62365	0.989;0.879;0.991	P;B;P	0.55667	0.781;0.387;0.73	T	0.69331	-0.5173	9	0.66056	D	0.02	-9.575	11.8452	0.52381	0.1312:0.0:0.0:0.8688	.	35;32;32	B4DYV2;B4DQR0;Q9NXF1	.;.;TEX10_HUMAN	H	35;32;32	.	ENSP00000364037:N32H	N	-	1	0	TEX10	102151373	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	8.040000	0.89188	0.897000	0.36392	-0.336000	0.08194	AAC		0.318	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
TMEFF1	8577	broad.mit.edu	37	9	103271370	103271370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:103271370G>T	ENST00000374879.4	+	3	822	c.390G>T	c.(388-390)aaG>aaT	p.K130N	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.A94S|TMEFF1_ENST00000334943.6_Missense_Mutation_p.K91N	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	130	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K130N(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTGCTTGTAAGCACCAGAAAG	0.363																																					p.K130N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G390T	9						.						105.0	105.0	105.0					9																	103271370		2203	4300	6503	102311191	SO:0001583	missense	8577	exon3			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.390G>T	9.37:g.103271370G>T	ENSP00000364013:p.Lys130Asn		102311191	NM_003692	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.077344|2.077344	0.36662|0.36662	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.04502	.|3.61;3.61	5.58|5.58	3.51|3.51	0.40186|0.40186	.|Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	.|0.051729	.|0.85682	.|D	.|0.000000	T|T	0.06917|0.06917	0.0176|0.0176	L|L	0.43646|0.43646	1.37|1.37	0.47698|0.47698	D|D	0.999499|0.999499	.|P;B	.|0.35050	.|0.482;0.009	.|P;B	.|0.44811	.|0.461;0.005	T|T	0.32295|0.32295	-0.9912|-0.9912	5|10	.|0.42905	.|T	.|0.14	-32.3874|-32.3874	5.0111|5.0111	0.14313|0.14313	0.3551:0.0:0.6449:0.0|0.3551:0.0:0.6449:0.0	.|.	.|130;91	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	S|N	94|91;130	.|ENSP00000334447:K91N;ENSP00000364013:K130N	.|ENSP00000334447:K91N	A|K	+|+	1|3	0|2	C9orf30-TMEFF1|TMEFF1	102311191|102311191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.091000|1.091000	0.30915|0.30915	1.353000|1.353000	0.45828|0.45828	0.650000|0.650000	0.86243|0.86243	GCA|AAG		0.363	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	
TMEFF1	8577	broad.mit.edu	37	9	103334840	103334840	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:103334840G>T	ENST00000374879.4	+	9	1372	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R277I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.D275Y	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	314					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D314Y(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGAAAAGACAGACTTTAGTAT	0.358																																					p.D314Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G940T	9						.						143.0	134.0	137.0					9																	103334840		2203	4300	6503	102374661	SO:0001583	missense	8577	exon9			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.940G>T	9.37:g.103334840G>T	ENSP00000364013:p.Asp314Tyr		102374661	NM_003692	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.216112|4.216112	0.79352|0.79352	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	T;T|.	0.14022|.	2.54;2.54|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.045347|.	0.85682|.	D|.	0.000000|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79784|.	0.993;0.982|.	T|T	0.52117|0.52117	-0.8618|-0.8618	10|5	0.87932|.	D|.	0|.	-41.1487|-41.1487	15.8911|15.8911	0.79299|0.79299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314;275|.	Q8IYR6;Q8IYR6-2|.	TEFF1_HUMAN;.|.	Y|I	275;314|277	ENSP00000334447:D275Y;ENSP00000364013:D314Y|.	ENSP00000334447:D275Y|.	D|R	+|+	1|2	0|0	TMEFF1|C9orf30-TMEFF1	102374661|102374661	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	9.471000|9.471000	0.97696|0.97696	2.305000|2.305000	0.77605|0.77605	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.358	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	
MURC	347273	broad.mit.edu	37	9	103348134	103348134	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:103348134G>A	ENST00000307584.5	+	2	561	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	166					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.D166N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TGATATCTTTGATCCCCCAGT	0.423																																					p.D166N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G496A	9						.						68.0	66.0	67.0					9																	103348134		2203	4300	6503	102387955	SO:0001583	missense	347273	exon2			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.496G>A	9.37:g.103348134G>A	ENSP00000418668:p.Asp166Asn		102387955	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832152	0.32421	.	.	ENSG00000170681	ENST00000307584	T	0.59083	0.29	5.16	4.13	0.48395	.	0.555553	0.20886	N	0.083902	T	0.47469	0.1447	L	0.34521	1.04	0.09310	N	1	P	0.43701	0.815	P	0.45681	0.49	T	0.28808	-1.0032	10	0.17369	T	0.5	-13.3474	9.9907	0.41870	0.0:0.0:0.669:0.331	.	166	Q5BKX8	MURC_HUMAN	N	166	ENSP00000418668:D166N	ENSP00000418668:D166N	D	+	1	0	MURC	102387955	0.996000	0.38824	0.849000	0.33467	0.074000	0.17049	2.068000	0.41471	2.566000	0.86566	0.561000	0.74099	GAT		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
ZNF189	7743	broad.mit.edu	37	9	104171635	104171635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:104171635C>T	ENST00000339664.2	+	3	1714	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ZNF189_ENST00000374861.3_Nonsense_Mutation_p.R515*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R487*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R529*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TAATCTTATTCGACATCAGGG	0.423																																					p.R487X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1459T	9						.						97.0	96.0	96.0					9																	104171635		2203	4300	6503	103211456	SO:0001587	stop_gained	7743	exon4			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1585C>T	9.37:g.104171635C>T	ENSP00000342019:p.Arg529*		103211456	NM_197977	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419055	0.83559	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.35	3.44	0.39384	.	0.218087	0.23579	N	0.046668	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	9.6954	0.40154	0.3787:0.6213:0.0:0.0	.	.	.	.	X	515;529;487	.	ENSP00000259395:R487X	R	+	1	2	ZNF189	103211456	0.000000	0.05858	1.000000	0.80357	0.842000	0.47809	-1.843000	0.01680	1.400000	0.46741	-0.188000	0.12872	CGA		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452	
RNF20	56254	broad.mit.edu	37	9	104323505	104323505	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:104323505G>A	ENST00000389120.3	+	18	2732	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	881					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R881P(1)|p.R881Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATTTCAAACGAGCCCAGGTA	0.403																																					p.R881Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2642A	9						.						139.0	136.0	137.0					9																	104323505		2203	4300	6503	103363326	SO:0001583	missense	56254	exon18			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2642G>A	9.37:g.104323505G>A	ENSP00000373772:p.Arg881Gln		103363326	NM_019592	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635663	0.96682	.	.	ENSG00000155827	ENST00000389120	T	0.37058	1.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65166	-0.6234	10	0.52906	T	0.07	-7.4183	19.7564	0.96294	0.0:0.0:1.0:0.0	.	881	Q5VTR2	BRE1A_HUMAN	Q	881	ENSP00000373772:R881Q	ENSP00000373772:R881Q	R	+	2	0	RNF20	103363326	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.229000	0.95273	2.835000	0.97688	0.650000	0.86243	CGA		0.403	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
GRIN3A	116443	broad.mit.edu	37	9	104341616	104341616	+	Missense_Mutation	SNP	G	G	T	rs138075207		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:104341616G>T	ENST00000361820.3	-	7	3393	c.2793C>A	c.(2791-2793)ttC>ttA	p.F931L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	931					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.F931L(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCCCAGAGAAGTGTTTGA	0.438																																					p.F931L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2793A	9						.						152.0	131.0	138.0					9																	104341616		2203	4300	6503	103381437	SO:0001583	missense	116443	exon7				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2793C>A	9.37:g.104341616G>T	ENSP00000355155:p.Phe931Leu		103381437	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812149	0.70797	.	.	ENSG00000198785	ENST00000361820	T	0.51325	0.71	5.37	4.24	0.50183	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.34521	1.04	0.58432	D	0.999999	P	0.43701	0.815	P	0.50109	0.631	T	0.35871	-0.9771	10	0.52906	T	0.07	.	9.9458	0.41609	0.1799:0.0:0.8201:0.0	.	931	Q8TCU5	NMD3A_HUMAN	L	931	ENSP00000355155:F931L	ENSP00000355155:F931L	F	-	3	2	GRIN3A	103381437	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.069000	0.30641	2.676000	0.91093	0.655000	0.94253	TTC		0.438	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
DMRT2	10655	broad.mit.edu	37	9	1056474	1056474	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:1056474G>T	ENST00000358146.2	+	3	887	c.887G>T	c.(886-888)aGc>aTc	p.S296I	DMRT2_ENST00000382251.3_Missense_Mutation_p.S296I|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.S296I			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	296					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S296I(1)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GAACCACCAAGCAAGGACTTC	0.493																																					p.S296I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G887T	9						.						82.0	79.0	80.0					9																	1056474		2203	4300	6503	1046474	SO:0001583	missense	10655	exon4			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.887G>T	9.37:g.1056474G>T	ENSP00000350865:p.Ser296Ile		1046474	NM_181872	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296846	0.23650	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.25414	1.8;1.8;1.8	5.53	4.61	0.57282	.	0.234003	0.48767	D	0.000178	T	0.25419	0.0618	L	0.44542	1.39	0.30588	N	0.761822	D;P	0.62365	0.991;0.874	P;B	0.48873	0.593;0.277	T	0.16541	-1.0399	10	0.37606	T	0.19	-9.1326	6.7722	0.23601	0.3169:0.0:0.6831:0.0	.	296;140	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	I	296	ENSP00000371686:S296I;ENSP00000305785:S296I;ENSP00000350865:S296I	ENSP00000305785:S296I	S	+	2	0	DMRT2	1046474	0.980000	0.34600	0.959000	0.39883	0.100000	0.18952	0.893000	0.28336	1.285000	0.44548	0.585000	0.79938	AGC		0.493	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557	
GRIN3A	116443	broad.mit.edu	37	9	104432544	104432544	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:104432544G>T	ENST00000361820.3	-	3	2750	c.2150C>A	c.(2149-2151)tCt>tAt	p.S717Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	717					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.S717Y(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CAAGGCTGAAGAAAAGGAGAA	0.463																																					p.S717Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2150A	9						.						125.0	126.0	126.0					9																	104432544		2203	4300	6503	103472365	SO:0001583	missense	116443	exon3				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2150C>A	9.37:g.104432544G>T	ENSP00000355155:p.Ser717Tyr		103472365	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025588	0.75390	.	.	ENSG00000198785	ENST00000361820	T	0.55413	0.52	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76550	-0.2918	10	0.52906	T	0.07	.	19.5908	0.95509	0.0:0.0:1.0:0.0	.	717	Q8TCU5	NMD3A_HUMAN	Y	717	ENSP00000355155:S717Y	ENSP00000355155:S717Y	S	-	2	0	GRIN3A	103472365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.714000	0.92807	0.580000	0.79431	TCT		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
SMC2	10592	broad.mit.edu	37	9	106882387	106882387	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:106882387G>T	ENST00000286398.7	+	16	2364	c.2076G>T	c.(2074-2076)gaG>gaT	p.E692D	SMC2_ENST00000374793.3_Missense_Mutation_p.E692D|SMC2_ENST00000374787.3_Missense_Mutation_p.E692D|SMC2_ENST00000303219.8_Missense_Mutation_p.E692D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	692					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E692D(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAATCAAAGAGAATGAGCTGC	0.378																																					p.E692D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2076T	9						.						108.0	118.0	114.0					9																	106882387		2203	4299	6502	105922208	SO:0001583	missense	10592	exon16			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2076G>T	9.37:g.106882387G>T	ENSP00000286398:p.Glu692Asp		105922208	NM_006444	Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506435	0.44558	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.81078	-1.45;-1.45;3.34;-1.45	5.43	4.52	0.55395	.	0.099686	0.64402	D	0.000002	T	0.62514	0.2434	N	0.08118	0	0.40296	D	0.978559	B;B	0.20261	0.009;0.043	B;B	0.24155	0.022;0.051	T	0.59632	-0.7418	10	0.27785	T	0.31	-15.9244	11.0973	0.48152	0.1443:0.0:0.8557:0.0	.	692;692	O95347;Q2KQ72	SMC2_HUMAN;.	D	692	ENSP00000286398:E692D;ENSP00000363925:E692D;ENSP00000306152:E692D;ENSP00000363919:E692D	ENSP00000286398:E692D	E	+	3	2	SMC2	105922208	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.838000	0.39211	2.542000	0.85734	0.585000	0.79938	GAG		0.378	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
SMC2	10592	broad.mit.edu	37	9	106885486	106885486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:106885486G>T	ENST00000286398.7	+	17	2518	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	SMC2_ENST00000374793.3_Nonsense_Mutation_p.E744*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E744*|SMC2_ENST00000303219.8_Nonsense_Mutation_p.E744*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	744					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E744*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCAACAAGAAGAATTAGATGC	0.373																																					p.E744X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2230T	9						.						97.0	90.0	93.0					9																	106885486		2203	4300	6503	105925307	SO:0001587	stop_gained	10592	exon17			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2230G>T	9.37:g.106885486G>T	ENSP00000286398:p.Glu744*		105925307	NM_006444	Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	43	9.948459	0.99302	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.1	5.1	0.69264	.	0.051849	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.8468	17.0807	0.86598	0.0:0.0:1.0:0.0	.	.	.	.	X	744	.	ENSP00000286398:E744X	E	+	1	0	SMC2	105925307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.087000	0.89521	2.364000	0.80123	0.555000	0.69702	GAA		0.373	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
SMC2	10592	broad.mit.edu	37	9	106900420	106900420	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:106900420C>T	ENST00000286398.7	+	24	3679	c.3391C>T	c.(3391-3393)Ctg>Ttg	p.L1131L	SMC2_ENST00000374793.3_Silent_p.L1131L|SMC2_ENST00000374787.3_Silent_p.L1131L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1131					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.L1131L(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGGACAGATGCTGCGTACTCA	0.363																																					p.L1131L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3391T	9						.						115.0	105.0	109.0					9																	106900420		2203	4300	6503	105940241	SO:0001819	synonymous_variant	10592	exon24			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3391C>T	9.37:g.106900420C>T			105940241	NM_006444	Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	CCDS35086.1																																																																																				0.363	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
OR13C4	138804	broad.mit.edu	37	9	107289073	107289073	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107289073C>T	ENST00000277216.3	-	1	417	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V140M(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGTACATACACCACCTTGTTC	0.448																																					p.V140M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	9						.						146.0	125.0	132.0					9																	107289073		2203	4300	6503	106328894	SO:0001583	missense	138804	exon1				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.418G>A	9.37:g.107289073C>T	ENSP00000277216:p.Val140Met		106328894	NM_001001919	Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.054031	0.07362	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.38887	1.11	4.02	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000761	T	0.47229	0.1434	M	0.66560	2.04	0.09310	N	1	B	0.31548	0.328	P	0.45310	0.476	T	0.46442	-0.9191	10	0.72032	D	0.01	.	5.1627	0.15070	0.0:0.6721:0.2127:0.1152	.	140	Q8NGS5	O13C4_HUMAN	M	140;169	ENSP00000277216:V140M	ENSP00000277216:V140M	V	-	1	0	OR13C4	106328894	0.000000	0.05858	0.048000	0.18961	0.038000	0.13279	-0.599000	0.05700	2.216000	0.71823	0.585000	0.79938	GTG		0.448	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1		
OR13C8	138802	broad.mit.edu	37	9	107331606	107331606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107331606C>A	ENST00000335040.1	+	1	158	c.158C>A	c.(157-159)tCt>tAt	p.S53Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S53Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTTTGATTCTCACCTGCAC	0.438																																					p.S53Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158A	9						.						336.0	311.0	320.0					9																	107331606		2203	4300	6503	106371427	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.158C>A	9.37:g.107331606C>A	ENSP00000334068:p.Ser53Tyr		106371427	NM_001004483	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970264	0.18659	.	.	ENSG00000186943	ENST00000335040	T	0.00441	7.41	4.97	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.256245	0.28778	N	0.014164	T	0.00496	0.0016	M	0.87456	2.885	0.09310	N	1	B	0.19200	0.034	B	0.17722	0.019	T	0.42882	-0.9425	10	0.51188	T	0.08	.	5.059	0.14548	0.0:0.5908:0.0:0.4092	.	53	Q8NGS7	O13C8_HUMAN	Y	53	ENSP00000334068:S53Y	ENSP00000334068:S53Y	S	+	2	0	OR13C8	106371427	0.000000	0.05858	0.736000	0.30914	0.824000	0.46624	-1.066000	0.03454	1.296000	0.44742	0.655000	0.94253	TCT		0.438	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
OR13C5	138799	broad.mit.edu	37	9	107360864	107360864	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107360864G>C	ENST00000374779.2	-	1	924	c.831C>G	c.(829-831)gaC>gaG	p.D277E		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D277E(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ATATAAGTTTGTCAGTGGCAT	0.413																																					p.D277E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C831G	9						.						129.0	121.0	124.0					9																	107360864		2203	4300	6503	106400685	SO:0001583	missense	138799	exon1				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.831C>G	9.37:g.107360864G>C	ENSP00000363911:p.Asp277Glu		106400685	NM_001004482	B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385225	0.25031	.	.	ENSG00000255800	ENST00000374779	T	0.00227	8.5	3.76	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002082	T	0.00210	0.0006	M	0.76574	2.34	0.09310	N	1	B	0.25486	0.127	B	0.34779	0.189	T	0.42396	-0.9454	10	0.33940	T	0.23	.	6.2029	0.20585	0.5195:0.1424:0.3381:0.0	.	277	Q8NGS8	O13C5_HUMAN	E	277	ENSP00000363911:D277E	ENSP00000363911:D277E	D	-	3	2	OR13C5	106400685	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	-1.630000	0.02028	-0.672000	0.05266	0.423000	0.28283	GAC		0.413	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2	NM_001004482	
OR13C2	392376	broad.mit.edu	37	9	107366971	107366971	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107366971C>A	ENST00000542196.1	-	1	980	c.938G>T	c.(937-939)aGa>aTa	p.R313I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R313I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AAAGAACCTTCTGTTCAGTAG	0.353																																					p.R313I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G938T	9						.						170.0	170.0	170.0					9																	107366971		2201	4300	6501	106406792	SO:0001583	missense	392376	exon1				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.938G>T	9.37:g.107366971C>A	ENSP00000438815:p.Arg313Ile		106406792	NM_001004481	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419516	0.25552	.	.	ENSG00000257019	ENST00000542196	T	0.39229	1.09	3.65	-3.01	0.05463	.	0.000000	0.37669	U	0.001985	T	0.44850	0.1313	M	0.78456	2.415	0.09310	N	1	B	0.31968	0.349	B	0.40199	0.322	T	0.51865	-0.8651	10	0.66056	D	0.02	.	10.4498	0.44516	0.0:0.301:0.0:0.699	.	313	Q8NGS9	O13C2_HUMAN	I	313	ENSP00000438815:R313I	ENSP00000438815:R313I	R	-	2	0	OR13C2	106406792	0.004000	0.15560	0.000000	0.03702	0.015000	0.08874	-0.126000	0.10563	-0.656000	0.05380	0.407000	0.27541	AGA		0.353	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
OR13C2	392376	broad.mit.edu	37	9	107367639	107367639	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107367639C>A	ENST00000542196.1	-	1	312	c.270G>T	c.(268-270)aaG>aaT	p.K90N		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K90N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGGAAATGGTCTTTCTTTCTG	0.522																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	9						.						73.0	73.0	73.0					9																	107367639		2203	4299	6502	106407460	SO:0001583	missense	392376	exon1				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.270G>T	9.37:g.107367639C>A	ENSP00000438815:p.Lys90Asn		106407460	NM_001004481	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	6.411	0.443866	0.12164	.	.	ENSG00000257019	ENST00000542196	T	0.38240	1.15	3.39	-0.0597	0.13792	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	U	0.001630	T	0.36220	0.0959	L	0.52126	1.63	0.09310	N	1	P	0.52842	0.956	P	0.55871	0.786	T	0.25187	-1.0139	10	0.87932	D	0	.	0.3725	0.00382	0.2363:0.3087:0.2339:0.2212	.	90	Q8NGS9	O13C2_HUMAN	N	90	ENSP00000438815:K90N	ENSP00000438815:K90N	K	-	3	2	OR13C2	106407460	0.000000	0.05858	0.482000	0.27366	0.549000	0.35272	-3.021000	0.00642	0.122000	0.18314	0.462000	0.41574	AAG		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
OR13C2	392376	broad.mit.edu	37	9	107367844	107367844	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107367844C>A	ENST00000542196.1	-	1	107	c.65G>T	c.(64-66)aGa>aTa	p.R22I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R22I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TAACTCAAGTCTTGGGTGACC	0.403																																					p.R22I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G65T	9						.						33.0	36.0	35.0					9																	107367844		2185	4293	6478	106407665	SO:0001583	missense	392376	exon1				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.65G>T	9.37:g.107367844C>A	ENSP00000438815:p.Arg22Ile		106407665	NM_001004481	B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	3.962	-0.010144	0.07727	.	.	ENSG00000257019	ENST00000542196	T	0.00438	7.42	3.39	-3.01	0.05463	.	0.476386	0.15819	U	0.243105	T	0.00210	0.0006	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.41448	-0.9508	10	0.49607	T	0.09	.	3.7938	0.08732	0.2781:0.2076:0.0:0.5143	.	22	Q8NGS9	O13C2_HUMAN	I	22	ENSP00000438815:R22I	ENSP00000438815:R22I	R	-	2	0	OR13C2	106407665	0.000000	0.05858	0.012000	0.15200	0.173000	0.22820	-1.718000	0.01875	-0.215000	0.10063	0.462000	0.41574	AGA		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481	
OR13C9	286362	broad.mit.edu	37	9	107379657	107379657	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107379657C>A	ENST00000259362.1	-	1	828	c.829G>T	c.(829-831)Gac>Tac	p.D277Y		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D277Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATAATTTTGTCGGTAGCATCC	0.393																																					p.D277Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829T	9						.						161.0	149.0	153.0					9																	107379657		2203	4300	6503	106419478	SO:0001583	missense	286362	exon1				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.829G>T	9.37:g.107379657C>A	ENSP00000259362:p.Asp277Tyr		106419478	NM_001001956	Q6IFL2	Missense_Mutation	SNP	ENST00000259362.1	37	CCDS35093.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352322	0.24512	.	.	ENSG00000136839	ENST00000259362	T	0.00256	8.42	4.46	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.125619	0.35040	N	0.003486	T	0.00784	0.0026	H	0.95816	3.725	0.23459	N	0.997638	D	0.89917	1.0	D	0.85130	0.997	T	0.15378	-1.0439	10	0.72032	D	0.01	.	10.4815	0.44695	0.0:0.9044:0.0:0.0956	.	277	Q8NGT0	O13C9_HUMAN	Y	277	ENSP00000259362:D277Y	ENSP00000259362:D277Y	D	-	1	0	OR13C9	106419478	0.000000	0.05858	0.871000	0.34182	0.237000	0.25408	-0.400000	0.07241	1.077000	0.40990	-0.135000	0.14842	GAC		0.393	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1		
NIPSNAP3A	25934	broad.mit.edu	37	9	107516924	107516924	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107516924C>A	ENST00000374767.4	+	4	628	c.523C>A	c.(523-525)Cta>Ata	p.L175I	NIPSNAP3A_ENST00000471001.1_3'UTR	NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L175I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCATGTCAATCTAGGCTACAC	0.418																																					p.L175I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523A	9						.						121.0	100.0	107.0					9																	107516924		2203	4300	6503	106556745	SO:0001583	missense	25934	exon4			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.523C>A	9.37:g.107516924C>A	ENSP00000363899:p.Leu175Ile		106556745	NM_015469	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443554	0.12164	.	.	ENSG00000136783	ENST00000374767	T	0.54675	0.56	4.99	-0.535	0.11879	Dimeric alpha-beta barrel (1);	0.689827	0.14191	N	0.335351	T	0.27967	0.0689	N	0.19112	0.55	0.09310	N	1	B;B	0.21452	0.056;0.032	B;B	0.21151	0.033;0.033	T	0.10636	-1.0621	10	0.33141	T	0.24	.	0.7969	0.01067	0.3128:0.2974:0.2136:0.1762	.	175;175	B4DW81;Q9UFN0	.;NPS3A_HUMAN	I	175	ENSP00000363899:L175I	ENSP00000363899:L175I	L	+	1	2	NIPSNAP3A	106556745	0.001000	0.12720	0.001000	0.08648	0.875000	0.50365	0.706000	0.25690	0.221000	0.20879	-0.882000	0.02950	CTA		0.418	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469	
NIPSNAP3A	25934	broad.mit.edu	37	9	107521545	107521545	+	Missense_Mutation	SNP	C	C	T	rs145918659		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107521545C>T	ENST00000374767.4	+	6	775	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)	224						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R224W(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TTTTCCAGTTCGGGAAAGTGT	0.358													.|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.0		0.0	False		,,,				2504	0.001				p.R224W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	9						.	C	TRP/ARG	0,4406		0,0,2203	137.0	129.0	131.0		670	4.0	1.0	9	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	NIPSNAP3A	NM_015469.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		224/248	107521545	1,13005	2203	4300	6503	106561366	SO:0001583	missense	25934	exon6			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.670C>T	9.37:g.107521545C>T	ENSP00000363899:p.Arg224Trp		106561366	NM_015469	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	Missense_Mutation	SNP	ENST00000374767.4	37	CCDS6760.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385550	0.61956	0.0	1.16E-4	ENSG00000136783	ENST00000374767	T	0.70986	-0.53	3.97	3.97	0.46021	Dimeric alpha-beta barrel (1);	0.111229	0.56097	D	0.000022	D	0.85660	0.5748	M	0.88031	2.925	0.48901	D	0.999723	D	0.89917	1.0	D	0.97110	1.0	D	0.88566	0.3126	10	0.66056	D	0.02	.	14.7197	0.69297	0.0:1.0:0.0:0.0	.	224	Q9UFN0	NPS3A_HUMAN	W	224	ENSP00000363899:R224W	ENSP00000363899:R224W	R	+	1	2	NIPSNAP3A	106561366	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.730000	0.55006	2.215000	0.71742	0.591000	0.81541	CGG		0.358	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053484.1	NM_015469	
ABCA1	19	broad.mit.edu	37	9	107553307	107553307	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107553307G>A	ENST00000374736.3	-	44	6217	c.5823C>T	c.(5821-5823)tgC>tgT	p.C1941C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1941	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.C1941C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGAGCCCAAAGCACTGAAAAG	0.368																																					p.C1941C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5823T	9						.						88.0	92.0	91.0					9																	107553307		2203	4300	6503	106593128	SO:0001819	synonymous_variant	19	exon44			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5823C>T	9.37:g.107553307G>A			106593128	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	CCDS6762.1																																																																																				0.368	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107583669	107583669	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107583669C>T	ENST00000374736.3	-	20	3341	c.2947G>A	c.(2947-2949)Gtg>Atg	p.V983M		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	983	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.V983M(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCAAACAGCACGTTATGCTGG	0.537																																					p.V983M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2947A	9						.						72.0	57.0	62.0					9																	107583669		2203	4300	6503	106623490	SO:0001583	missense	19	exon20			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2947G>A	9.37:g.107583669C>T	ENSP00000363868:p.Val983Met		106623490	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737437	0.89482	.	.	ENSG00000165029	ENST00000374736	D	0.93953	-3.32	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96091	0.9061	10	0.87932	D	0	.	19.8306	0.96634	0.0:1.0:0.0:0.0	.	983	O95477	ABCA1_HUMAN	M	983	ENSP00000363868:V983M	ENSP00000363868:V983M	V	-	1	0	ABCA1	106623490	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	7.731000	0.84895	2.682000	0.91365	0.563000	0.77884	GTG		0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107584879	107584879	+	Missense_Mutation	SNP	C	C	T	rs574919140	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107584879C>T	ENST00000374736.3	-	19	3120	c.2726G>A	c.(2725-2727)cGa>cAa	p.R909Q	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	909	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R909Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CATCCCATCTCGGTAGACTTT	0.547													C|||	3	0.000599042	0.0	0.0	5008	,	,		19393	0.0		0.0	False		,,,				2504	0.0031				p.R909Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2726A	9						.						136.0	129.0	131.0					9																	107584879		2203	4300	6503	106624700	SO:0001583	missense	19	exon19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2726G>A	9.37:g.107584879C>T	ENSP00000363868:p.Arg909Gln		106624700	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188931	0.57909	.	.	ENSG00000165029	ENST00000374736	T	0.80123	-1.34	5.79	3.95	0.45737	ABC transporter-like (1);	0.155416	0.64402	N	0.000016	T	0.63745	0.2537	N	0.20483	0.58	0.80722	D	1	P	0.42518	0.782	B	0.31946	0.138	T	0.63642	-0.6591	10	0.44086	T	0.13	.	12.3583	0.55188	0.0:0.8634:0.0:0.1366	.	909	O95477	ABCA1_HUMAN	Q	909	ENSP00000363868:R909Q	ENSP00000363868:R909Q	R	-	2	0	ABCA1	106624700	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	2.686000	0.46968	0.793000	0.33875	-0.140000	0.14226	CGA		0.547	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107665905	107665905	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:107665905C>A	ENST00000374736.3	-	2	450	c.56G>T	c.(55-57)aGa>aTa	p.R19I	ABCA1_ENST00000423487.2_Missense_Mutation_p.R19I|ABCA1_ENST00000374733.1_Intron	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	19					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R19I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGTTTGTCTTCTTCTGAAAGT	0.542																																					p.R19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G56T	9						.						89.0	78.0	82.0					9																	107665905		2203	4300	6503	106705726	SO:0001583	missense	19	exon2			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.56G>T	9.37:g.107665905C>A	ENSP00000363868:p.Arg19Ile		106705726	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177643	0.78564	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	D;D	0.90069	-2.61;-2.61	6.08	5.18	0.71444	.	0.048493	0.85682	D	0.000000	D	0.87525	0.6199	L	0.50333	1.59	0.80722	D	1	P	0.40660	0.726	B	0.44044	0.439	D	0.88000	0.2755	10	0.87932	D	0	.	11.9535	0.52968	0.0:0.9197:0.0:0.0803	.	19	O95477	ABCA1_HUMAN	I	19	ENSP00000363868:R19I;ENSP00000416623:R19I	ENSP00000363868:R19I	R	-	2	0	ABCA1	106705726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.139000	0.50577	2.894000	0.99253	0.655000	0.94253	AGA		0.542	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
SLC44A1	23446	broad.mit.edu	37	9	108072048	108072048	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:108072048G>T	ENST00000374720.3	+	3	417	c.170G>T	c.(169-171)aGa>aTa	p.R57I	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R57I|SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R57I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	57					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.R57I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAGCAGCAAGACTAGTGTCA	0.413																																					p.R57I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170T	9						.						114.0	108.0	110.0					9																	108072048		2203	4300	6503	107111869	SO:0001583	missense	23446	exon3			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.170G>T	9.37:g.108072048G>T	ENSP00000363852:p.Arg57Ile		107111869	NM_080546	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947530	0.92593	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	D;D;D	0.81739	-1.53;-1.53;-1.53	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90906	0.7142	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.991	D	0.90929	0.4789	10	0.56958	D	0.05	-0.1415	19.8545	0.96752	0.0:0.0:1.0:0.0	.	57;57	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	I	57	ENSP00000363855:R57I;ENSP00000363852:R57I;ENSP00000363856:R57I	ENSP00000363852:R57I	R	+	2	0	SLC44A1	107111869	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.881000	0.92415	2.695000	0.91970	0.563000	0.77884	AGA		0.413	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	
FKTN	2218	broad.mit.edu	37	9	108363442	108363442	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:108363442T>G	ENST00000223528.2	+	4	306	c.182T>G	c.(181-183)tTt>tGt	p.F61C	FKTN_ENST00000602661.1_Missense_Mutation_p.F61C|FKTN_ENST00000357998.5_Missense_Mutation_p.F61C|FKTN_ENST00000448551.2_Missense_Mutation_p.F61C|FKTN_ENST00000540160.1_Missense_Mutation_p.F61C	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	61					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.F61C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GTTAAAAAATTTATTATGTTA	0.279																																					p.F61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T182G	9						.						48.0	50.0	49.0					9																	108363442		2202	4297	6499	107403263	SO:0001583	missense	2218	exon5				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.182T>G	9.37:g.108363442T>G	ENSP00000223528:p.Phe61Cys		107403263	NM_001079802	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	ENST00000223528.2	37	CCDS6766.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812145	0.70797	.	.	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	D;D;D;D;D	0.94000	-2.97;-3.33;-2.34;-3.33;-2.8	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.96355	0.9261	10	0.87932	D	0	-9.0664	15.0542	0.71901	0.0:0.0:0.0:1.0	.	61;61;61	B4E2W4;B4DUX9;O75072	.;.;FKTN_HUMAN	C	61;61;61;61;38	ENSP00000223528:F61C;ENSP00000399140:F61C;ENSP00000439423:F61C;ENSP00000350687:F61C;ENSP00000363837:F38C	ENSP00000223528:F61C	F	+	2	0	FKTN	107403263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.126000	0.71635	2.155000	0.67459	0.383000	0.25322	TTT		0.279	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731	
TMEM38B	55151	broad.mit.edu	37	9	108510453	108510453	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:108510453C>A	ENST00000374692.3	+	5	759	c.642C>A	c.(640-642)atC>atA	p.I214I	TMEM38B_ENST00000374688.1_Silent_p.I160I	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	214						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.I214I(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTATACCATCTTTATTGTGG	0.398																																					p.I214I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642A	9						.						77.0	72.0	74.0					9																	108510453		2203	4300	6503	107550274	SO:0001819	synonymous_variant	55151	exon5			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.642C>A	9.37:g.108510453C>A			107550274	NM_018112	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Silent	SNP	ENST00000374692.3	37	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.324|8.324	0.824930|0.824930	0.16678|0.16678	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034	.|.	.|.	.|.	5.47|5.47	1.06|1.06	0.20224|0.20224	.|.	.|.	.|.	.|.	.|.	T|T	0.43853|0.43853	0.1266|0.1266	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23226|0.23226	-1.0194|-1.0194	4|4	.|.	.|.	.|.	-0.7201|-0.7201	2.9137|2.9137	0.05745|0.05745	0.1127:0.393:0.3173:0.177|0.1127:0.393:0.3173:0.177	.|.	.|.	.|.	.|.	I|Y	75|151	.|.	.|.	L|S	+|+	1|2	0|0	TMEM38B|TMEM38B	107550274|107550274	0.924000|0.924000	0.31332|0.31332	0.990000|0.990000	0.47175|0.47175	0.998000|0.998000	0.95712|0.95712	0.137000|0.137000	0.15995|0.15995	0.297000|0.297000	0.22615|0.22615	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.398	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112	
ZNF462	58499	broad.mit.edu	37	9	109689300	109689300	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:109689300C>T	ENST00000277225.5	+	3	3396	c.3107C>T	c.(3106-3108)tCg>tTg	p.S1036L	ZNF462_ENST00000457913.1_Missense_Mutation_p.S1036L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1036					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1036L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GATGTTTGTTCGTTTGCAAGC	0.403																																					p.S1036L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3107T	9						.						210.0	203.0	206.0					9																	109689300		2203	4300	6503	108729121	SO:0001583	missense	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3107C>T	9.37:g.109689300C>T	ENSP00000277225:p.Ser1036Leu		108729121	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327520	0.60743	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08634	3.07;3.51	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60609	0.877;0.773	T	0.00027	-1.2306	10	0.72032	D	0.01	.	14.8523	0.70306	0.1436:0.8564:0.0:0.0	.	1036;1036	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1036	ENSP00000277225:S1036L;ENSP00000414570:S1036L	ENSP00000277225:S1036L	S	+	2	0	ZNF462	108729121	1.000000	0.71417	0.978000	0.43139	0.951000	0.60555	5.831000	0.69330	2.735000	0.93741	0.655000	0.94253	TCG		0.403	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF462	58499	broad.mit.edu	37	9	109690981	109690981	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:109690981C>T	ENST00000277225.5	+	3	5077	c.4788C>T	c.(4786-4788)taC>taT	p.Y1596Y	ZNF462_ENST00000457913.1_Silent_p.Y1596Y|ZNF462_ENST00000441147.2_Silent_p.Y441Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1596					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y1596Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATCCACTACGAGAAGTATC	0.532																																					p.Y1596Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4788T	9						.						89.0	85.0	86.0					9																	109690981		2203	4300	6503	108730802	SO:0001819	synonymous_variant	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4788C>T	9.37:g.109690981C>T			108730802	NM_021224	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.532	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF462	58499	broad.mit.edu	37	9	109691354	109691354	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:109691354G>A	ENST00000277225.5	+	3	5450	c.5161G>A	c.(5161-5163)Gac>Aac	p.D1721N	ZNF462_ENST00000457913.1_Missense_Mutation_p.D1721N|ZNF462_ENST00000441147.2_Missense_Mutation_p.D566N			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1721					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D1721N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GAAGCGCCACGACATTGATGC	0.577																																					p.D1721N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5161A	9						.						104.0	85.0	91.0					9																	109691354		2203	4300	6503	108731175	SO:0001583	missense	58499	exon3			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5161G>A	9.37:g.109691354G>A	ENSP00000277225:p.Asp1721Asn		108731175	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252868	0.80135	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.08102	3.13;3.52;3.83;3.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20251	0.0487	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.00839	-1.1545	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1721;1721	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	N	1721;1721;604;566	ENSP00000277225:D1721N;ENSP00000414570:D1721N;ENSP00000363818:D604N;ENSP00000397306:D566N	ENSP00000277225:D1721N	D	+	1	0	ZNF462	108731175	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.434000	0.97515	2.941000	0.99782	0.655000	0.94253	GAC		0.577	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:109746472C>T	ENST00000277225.5	+	10	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R2340C|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000542028.1_Missense_Mutation_p.R237C|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1186C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2280					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2280C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418																																					p.R2280C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6838T	9						.						84.0	81.0	82.0					9																	109746472		2203	4300	6503	108786293	SO:0001583	missense	58499	exon10			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6838C>T	9.37:g.109746472C>T	ENSP00000277225:p.Arg2280Cys		108786293	NM_021224	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712064	0.68730	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.17054	3.29;3.78;3.87;3.85;2.3	5.67	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50127	-0.8864	10	0.87932	D	0	.	14.8015	0.69919	0.5116:0.4884:0.0:0.0	.	2340;2280	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	2280;2340;1223;1186;237	ENSP00000277225:R2280C;ENSP00000414570:R2340C;ENSP00000363818:R1223C;ENSP00000397306:R1186C;ENSP00000439771:R237C	ENSP00000277225:R2280C	R	+	1	0	ZNF462	108786293	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	1.379000	0.34340	1.293000	0.44690	0.655000	0.94253	CGT		0.418	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ACTL7B	10880	broad.mit.edu	37	9	111618067	111618067	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:111618067C>A	ENST00000374667.3	-	1	1172	c.144G>T	c.(142-144)aaG>aaT	p.K48N		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	48						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.K48N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCGCCTTGATCTTGTGCACCT	0.642																																					p.K48N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G144T	9						.						123.0	118.0	120.0					9																	111618067		2203	4300	6503	110657888	SO:0001583	missense	10880	exon1			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.144G>T	9.37:g.111618067C>A	ENSP00000363799:p.Lys48Asn		110657888	NM_006686	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	3.599	-0.081926	0.07141	.	.	ENSG00000148156	ENST00000374667	D	0.94497	-3.44	4.37	2.48	0.30137	.	0.477168	0.15402	U	0.264238	D	0.90246	0.6950	L	0.44542	1.39	0.09310	N	0.999998	B	0.10296	0.003	B	0.09377	0.004	T	0.82952	-0.0202	10	0.87932	D	0	.	7.5215	0.27631	0.0:0.7374:0.1678:0.0949	.	48	Q9Y614	ACL7B_HUMAN	N	48	ENSP00000363799:K48N	ENSP00000363799:K48N	K	-	3	2	ACTL7B	110657888	0.019000	0.18553	0.104000	0.21259	0.033000	0.12548	-0.263000	0.08670	0.455000	0.26910	-0.137000	0.14449	AAG		0.642	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
CTNNAL1	8727	broad.mit.edu	37	9	111705056	111705056	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:111705056T>G	ENST00000325551.4	-	19	2284	c.2198A>C	c.(2197-2199)aAa>aCa	p.K733T	CTNNAL1_ENST00000374594.1_Missense_Mutation_p.K134T|CTNNAL1_ENST00000374595.4_3'UTR|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.K649T|FAM206A_ENST00000374624.3_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	733					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.K733T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCTCAAGTTTTACTATCCAT	0.348																																					p.K733T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2198C	9						.						96.0	94.0	95.0					9																	111705056		2203	4300	6503	110744877	SO:0001583	missense	8727	exon19			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.2198A>C	9.37:g.111705056T>G	ENSP00000320434:p.Lys733Thr		110744877	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.430310	0.43122	.	.	ENSG00000119326	ENST00000325551;ENST00000325580;ENST00000374594	T;T;T	0.51817	1.63;1.42;0.69	5.92	5.92	0.95590	.	0.442238	0.27122	N	0.020834	T	0.37679	0.1012	L	0.27053	0.805	0.21967	N	0.999446	P;P;P;P	0.39480	0.546;0.675;0.546;0.546	B;B;B;B	0.41988	0.136;0.372;0.136;0.136	T	0.41360	-0.9513	10	0.66056	D	0.02	-12.1829	8.7854	0.34818	0.0:0.083:0.0:0.917	.	733;649;733;733	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7	.;.;.;CTNL1_HUMAN	T	733;649;134	ENSP00000320434:K733T;ENSP00000323351:K649T;ENSP00000363722:K134T	ENSP00000320434:K733T	K	-	2	0	CTNNAL1	110744877	1.000000	0.71417	0.948000	0.38648	0.070000	0.16714	2.869000	0.48444	2.263000	0.75096	0.533000	0.62120	AAA		0.348	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
CTNNAL1	8727	broad.mit.edu	37	9	111741743	111741743	+	Missense_Mutation	SNP	G	G	A	rs200532159		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:111741743G>A	ENST00000325551.4	-	7	1005	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R307W|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R307W	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	307					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R307W(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AGATTCTCCCGAAGAGCTTCA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19322	0.0		0.001	False		,,,				2504	0.0				p.R307W												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C919T	9						.						73.0	69.0	70.0					9																	111741743		2203	4300	6503	110781564	SO:0001583	missense	8727	exon7			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.919C>T	9.37:g.111741743G>A	ENSP00000320434:p.Arg307Trp		110781564	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.14	3.313101	0.60414	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.32515	1.48;1.61;1.45	5.91	5.0	0.66597	.	0.366625	0.31051	N	0.008355	T	0.33527	0.0866	M	0.80183	2.485	0.80722	D	1	B;P;B;B	0.38110	0.096;0.618;0.287;0.096	B;B;B;B	0.29440	0.024;0.102;0.099;0.024	T	0.36261	-0.9755	10	0.59425	D	0.04	-0.7036	13.3461	0.60573	0.0779:0.0:0.9221:0.0	.	307;307;307;307	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	W	307	ENSP00000363723:R307W;ENSP00000320434:R307W;ENSP00000323351:R307W	ENSP00000320434:R307W	R	-	1	2	CTNNAL1	110781564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.984000	0.56923	2.793000	0.96121	0.655000	0.94253	CGG		0.418	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
CTNNAL1	8727	broad.mit.edu	37	9	111761512	111761512	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:111761512C>A	ENST00000325551.4	-	2	252	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.D56Y|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.D56Y|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.D56Y	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	56					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.D56Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGGTATTATCTTTATGATTA	0.318																																					p.D56Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G166T	9						.						112.0	120.0	117.0					9																	111761512		2203	4300	6503	110801333	SO:0001583	missense	8727	exon2			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.166G>T	9.37:g.111761512C>A	ENSP00000320434:p.Asp56Tyr		110801333	NM_003798	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213399	0.79352	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.93	5.03	0.67393	.	0.043741	0.85682	D	0.000000	T	0.59115	0.2170	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72338	0.977;0.946;0.977	T	0.63812	-0.6552	10	0.72032	D	0.01	-12.1419	14.8821	0.70542	0.0:0.8556:0.1444:0.0	.	56;56;56	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	Y	56	ENSP00000363723:D56Y;ENSP00000320434:D56Y;ENSP00000323351:D56Y;ENSP00000363721:D56Y	ENSP00000320434:D56Y	D	-	1	0	CTNNAL1	110801333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.967000	0.70403	1.475000	0.48197	0.655000	0.94253	GAT		0.318	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	
SVEP1	79987	broad.mit.edu	37	9	113170353	113170353	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113170353G>T	ENST00000401783.2	-	38	7863	c.7527C>A	c.(7525-7527)ttC>ttA	p.F2509L	SVEP1_ENST00000297826.5_Missense_Mutation_p.F435L|SVEP1_ENST00000374469.1_Missense_Mutation_p.F2486L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2509	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F2512L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGTGTAAGAGAATTTGCCAT	0.488																																					p.F2509L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7527A	9						.						50.0	49.0	49.0					9																	113170353		1911	4125	6036	112210174	SO:0001583	missense	79987	exon38			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.7527C>A	9.37:g.113170353G>T	ENSP00000384917:p.Phe2509Leu		112210174	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	1.514	-0.548789	0.04024	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.61274	0.12;0.12;0.12	5.85	0.191	0.15130	Complement control module (2);Sushi/SCR/CCP (3);	0.458800	0.25906	N	0.027539	T	0.23133	0.0559	N	0.05199	-0.095	0.58432	D	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.21177	-1.0253	10	0.05620	T	0.96	.	2.9831	0.05960	0.3102:0.1133:0.4613:0.1152	.	2509	Q4LDE5	SVEP1_HUMAN	L	2509;2486;435;181	ENSP00000384917:F2509L;ENSP00000363593:F2486L;ENSP00000297826:F435L	ENSP00000297826:F435L	F	-	3	2	SVEP1	112210174	0.783000	0.28701	0.913000	0.36048	0.349000	0.29174	-0.015000	0.12634	0.103000	0.17682	-0.136000	0.14681	TTC		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113170491	113170491	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113170491G>T	ENST00000401783.2	-	38	7725	c.7389C>A	c.(7387-7389)ctC>ctA	p.L2463L	SVEP1_ENST00000297826.5_Silent_p.L389L|SVEP1_ENST00000374469.1_Silent_p.L2440L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2463	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.L2466L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGGTATAGAGAGCTGTGC	0.478																																					p.L2463L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7389A	9						.						66.0	64.0	64.0					9																	113170491		1932	4143	6075	112210312	SO:0001819	synonymous_variant	79987	exon38			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.7389C>A	9.37:g.113170491G>T			112210312	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113170761	113170761	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113170761G>A	ENST00000401783.2	-	38	7455	c.7119C>T	c.(7117-7119)ttC>ttT	p.F2373F	SVEP1_ENST00000297826.5_Silent_p.F299F|SVEP1_ENST00000374469.1_Silent_p.F2350F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2373	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.F2376F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACAAACAGGGAAAGAGTCAT	0.463																																					p.F2373F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7119T	9						.						62.0	60.0	61.0					9																	113170761		1914	4128	6042	112210582	SO:0001819	synonymous_variant	79987	exon38			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.7119C>T	9.37:g.113170761G>A			112210582	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.463	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113174010	113174010	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113174010G>T	ENST00000401783.2	-	37	6317	c.5981C>A	c.(5980-5982)aCt>aAt	p.T1994N	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1971N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1994	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.T1997N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACCAGCAAGAGTATAGCTGTG	0.433																																					p.T1994N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5981A	9						.						23.0	25.0	24.0					9																	113174010		1917	4117	6034	112213831	SO:0001583	missense	79987	exon37			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.5981C>A	9.37:g.113174010G>T	ENSP00000384917:p.Thr1994Asn		112213831	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034599	0.35893	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.64803	-0.12;-0.12	5.58	4.68	0.58851	Complement control module (2);Sushi/SCR/CCP (3);	0.045591	0.85682	D	0.000000	T	0.72882	0.3516	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69327	-0.5174	10	0.22109	T	0.4	.	14.1846	0.65598	0.0718:0.0:0.9282:0.0	.	1994	Q4LDE5	SVEP1_HUMAN	N	1994;1971	ENSP00000384917:T1994N;ENSP00000363593:T1971N	ENSP00000363593:T1971N	T	-	2	0	SVEP1	112213831	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	6.388000	0.73195	1.366000	0.46076	0.591000	0.81541	ACT		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113197541	113197541	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113197541G>T	ENST00000401783.2	-	29	5204	c.4868C>A	c.(4867-4869)tCt>tAt	p.S1623Y	SVEP1_ENST00000374469.1_Missense_Mutation_p.S1600Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1623	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.S1626Y(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGCTCTTAGAATCGATCTT	0.438																																					p.S1623Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4868A	9						.						107.0	101.0	103.0					9																	113197541		1881	4098	5979	112237362	SO:0001583	missense	79987	exon29			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.4868C>A	9.37:g.113197541G>T	ENSP00000384917:p.Ser1623Tyr		112237362	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.390768	0.01185	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.58940	0.3;0.3	5.41	3.53	0.40419	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.656803	0.16649	N	0.205320	T	0.45316	0.1336	L	0.33485	1.01	0.22317	N	0.999202	B	0.14012	0.009	B	0.12156	0.007	T	0.20706	-1.0267	10	0.16420	T	0.52	.	14.0188	0.64541	0.0:0.0:0.4748:0.5252	.	1623	Q4LDE5	SVEP1_HUMAN	Y	1623;1600	ENSP00000384917:S1623Y;ENSP00000363593:S1600Y	ENSP00000363593:S1600Y	S	-	2	0	SVEP1	112237362	1.000000	0.71417	0.300000	0.25030	0.695000	0.40330	1.994000	0.40757	0.620000	0.30215	0.563000	0.77884	TCT		0.438	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113212479	113212479	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113212479G>T	ENST00000401783.2	-	24	4299	c.3963C>A	c.(3961-3963)gtC>gtA	p.V1321V	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.V1298V|SVEP1_ENST00000302728.8_Silent_p.V1321V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1321	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.V1321V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGTCTTCACAGACTGCATTAT	0.468																																					p.V1321V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3963A	9						.						155.0	146.0	149.0					9																	113212479		1874	4107	5981	112252300	SO:0001819	synonymous_variant	79987	exon24			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.3963C>A	9.37:g.113212479G>T			112252300	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MUSK	4593	broad.mit.edu	37	9	113538923	113538923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113538923G>T	ENST00000374448.4	+	11	1506	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	MUSK_ENST00000374438.1_Intron|MUSK_ENST00000416899.2_Intron|MUSK_ENST00000189978.5_Nonsense_Mutation_p.E458*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	458					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E458*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTATAACAAAGAAAACCTAAA	0.343																																					p.E458X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1372T	9						.						121.0	127.0	125.0					9																	113538923		1830	4084	5914	112578744	SO:0001587	stop_gained	4593	exon10			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1372G>T	9.37:g.113538923G>T	ENSP00000363571:p.Glu458*		112578744	NM_005592	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	39	7.730559	0.98459	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335	.	.	.	5.92	5.03	0.67393	.	0.265899	0.42964	D	0.000639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.3307	0.49475	0.0836:0.0:0.9164:0.0	.	.	.	.	X	464;458;458	.	ENSP00000189978:E464X	E	+	1	0	MUSK	112578744	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.240000	0.65378	1.517000	0.48917	0.655000	0.94253	GAA		0.343	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
LPAR1	1902	broad.mit.edu	37	9	113637917	113637917	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113637917C>A	ENST00000374431.3	-	5	1262	c.879G>T	c.(877-879)gaG>gaT	p.E293D	LPAR1_ENST00000374430.2_Missense_Mutation_p.E293D|LPAR1_ENST00000358883.4_Missense_Mutation_p.E293D|LPAR1_ENST00000538760.1_Missense_Mutation_p.E294D|LPAR1_ENST00000541779.1_Missense_Mutation_p.E294D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	293					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.E293D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GGAAGAATTTCTCATAGGCCA	0.488																																					p.E293D	NSCLC(115;661 2323 9836 34256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G879T	9						.						112.0	111.0	112.0					9																	113637917		2203	4300	6503	112677738	SO:0001583	missense	1902	exon4			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.879G>T	9.37:g.113637917C>A	ENSP00000363553:p.Glu293Asp		112677738	NM_001401	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992196	0.54041	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	6.06	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.62723	1.935	0.52501	D	0.999959	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.74348	0.983;0.983;0.983	T	0.76424	-0.2964	10	0.33940	T	0.23	.	11.6587	0.51334	0.0:0.7211:0.0:0.2789	.	294;294;293	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	D	293;294;293;293;275;294	ENSP00000363553:E293D;ENSP00000445697:E294D;ENSP00000363552:E293D;ENSP00000351755:E293D;ENSP00000440201:E294D	ENSP00000351755:E293D	E	-	3	2	LPAR1	112677738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.788000	0.26872	0.896000	0.36366	0.655000	0.94253	GAG		0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
LPAR1	1902	broad.mit.edu	37	9	113704061	113704061	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:113704061C>T	ENST00000374431.3	-	4	816	c.433G>A	c.(433-435)Gag>Aag	p.E145K	LPAR1_ENST00000374430.2_Missense_Mutation_p.E145K|LPAR1_ENST00000358883.4_Missense_Mutation_p.E145K|LPAR1_ENST00000538760.1_Missense_Mutation_p.E146K|LPAR1_ENST00000541779.1_Missense_Mutation_p.E146K	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	145					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.E145K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATGTGCCTCTCGATTGCAATA	0.537																																					p.E145K	NSCLC(115;661 2323 9836 34256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	9						.						119.0	107.0	111.0					9																	113704061		2203	4300	6503	112743882	SO:0001583	missense	1902	exon3			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.433G>A	9.37:g.113704061C>T	ENSP00000363553:p.Glu145Lys		112743882	NM_001401	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920523	0.92249	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90614	0.4554	10	0.87932	D	0	.	13.4093	0.60933	0.0:0.9247:0.0:0.0753	.	146;146;145	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	K	145;146;145;145;127;146;145	ENSP00000363553:E145K;ENSP00000445697:E146K;ENSP00000363552:E145K;ENSP00000351755:E145K;ENSP00000440201:E146K;ENSP00000401810:E145K	ENSP00000351755:E145K	E	-	1	0	LPAR1	112743882	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	7.818000	0.86416	1.357000	0.45904	0.655000	0.94253	GAG		0.537	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
OR2K2	26248	broad.mit.edu	37	9	114089768	114089768	+	Missense_Mutation	SNP	G	G	A	rs545492183		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114089768G>A	ENST00000374428.1	-	1	1032	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F	OR2K2_ENST00000302681.1_Missense_Mutation_p.L316F			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L316F(1)|p.L345I(1)|p.L316I(1)|p.L345F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCCAATCAGAGATGTTCGTGT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20124	0.0		0.0	False		,,,				2504	0.001				p.L316F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C946T	9						.						102.0	87.0	92.0					9																	114089768		2203	4300	6503	113129589	SO:0001583	missense	26248	exon1			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.1033C>T	9.37:g.114089768G>A	ENSP00000363550:p.Leu345Phe		113129589	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		.	.	.	.	.	.	.	.	.	.	G	10.62	1.401500	0.25291	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.10860	2.83;2.86	4.84	-2.75	0.05914	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	9	0.66056	D	0.02	.	0.993	0.01461	0.3298:0.2714:0.2604:0.1385	.	345	Q8NGT1	OR2K2_HUMAN	F	316;345	ENSP00000305055:L316F;ENSP00000363550:L345F	ENSP00000305055:L316F	L	-	1	0	OR2K2	113129589	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.654000	0.05354	-0.410000	0.07542	-0.176000	0.13171	CTC		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
KIAA0368	23392	broad.mit.edu	37	9	114151924	114151924	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114151924C>T	ENST00000338205.5	-	30	3578	c.3359G>A	c.(3358-3360)cGa>cAa	p.R1120Q	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.R1298Q			Q5VYK3	ECM29_HUMAN	KIAA0368	1126					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R1298Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACGATAAAGTCGAGGAACTAG	0.448																																					p.R1298Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3893A	9						.						75.0	75.0	75.0					9																	114151924		1940	4141	6081	113191745	SO:0001583	missense	23392	exon32			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3359G>A	9.37:g.114151924C>T	ENSP00000339889:p.Arg1120Gln		113191745	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	C	37	6.117776	0.97300	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.32515	1.45	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64740	-0.6336	10	0.72032	D	0.01	.	19.4063	0.94648	0.0:1.0:0.0:0.0	.	595	B3KXF2	.	Q	1120;1298;595	ENSP00000259335:R1298Q	ENSP00000259335:R1298Q	R	-	2	0	KIAA0368	113191745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.569000	0.86673	0.655000	0.94253	CGA		0.448	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
ZNF483	158399	broad.mit.edu	37	9	114304327	114304327	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114304327C>A	ENST00000309235.5	+	6	1270	c.1112C>A	c.(1111-1113)tCt>tAt	p.S371Y	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	371					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.S371Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTGAGTCACTCTTCAGCTCTT	0.428																																					p.S371Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1112A	9						.						86.0	95.0	92.0					9																	114304327		2203	4300	6503	113344148	SO:0001583	missense	158399	exon6			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1112C>A	9.37:g.114304327C>A	ENSP00000311679:p.Ser371Tyr		113344148	NM_133464	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	3.252	-0.153001	0.06585	.	.	ENSG00000173258	ENST00000309235	T	0.29397	1.57	4.55	2.69	0.31865	.	0.713203	0.12362	N	0.475512	T	0.21801	0.0525	L	0.56280	1.765	0.09310	N	0.999999	P	0.37398	0.593	B	0.34038	0.174	T	0.13045	-1.0524	10	0.17369	T	0.5	-1.6775	3.4376	0.07452	0.1758:0.5616:0.1703:0.0924	.	371	Q8TF39	ZN483_HUMAN	Y	371	ENSP00000311679:S371Y	ENSP00000311679:S371Y	S	+	2	0	ZNF483	113344148	0.000000	0.05858	0.004000	0.12327	0.150000	0.21749	-0.645000	0.05409	0.834000	0.34852	0.655000	0.94253	TCT		0.428	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567	
PTGR1	22949	broad.mit.edu	37	9	114332476	114332476	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114332476C>A	ENST00000407693.2	-	9	1036	c.774G>T	c.(772-774)gaG>gaT	p.E258D	PTGR1_ENST00000238248.3_Missense_Mutation_p.E135D|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000309195.5_Missense_Mutation_p.E258D|PTGR1_ENST00000538962.1_Missense_Mutation_p.E258D	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	258					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)	p.E258D(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AGATAACAATCTCTGGGGGTG	0.532																																					p.E258D	Ovarian(200;132 2151 7551 19220 46064)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	9						.						39.0	40.0	39.0					9																	114332476		2203	4300	6503	113372297	SO:0001583	missense	22949	exon9			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.774G>T	9.37:g.114332476C>A	ENSP00000385763:p.Glu258Asp		113372297	NM_001146109	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156282	0.21454	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	3.9	0.00518	0.14061	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.635660	0.16374	N	0.217212	T	0.21186	0.0510	L	0.46947	1.48	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.30937	-0.9961	10	0.13853	T	0.58	-0.0547	7.9955	0.30265	0.0:0.6468:0.0:0.3532	.	258;258;135;258	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	D	258;258;258;135;135	ENSP00000440281:E258D;ENSP00000311572:E258D;ENSP00000385763:E258D;ENSP00000238248:E135D	ENSP00000238248:E135D	E	-	3	2	PTGR1	113372297	0.000000	0.05858	0.006000	0.13384	0.288000	0.27193	-0.321000	0.08018	0.007000	0.14760	0.460000	0.39030	GAG		0.532	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		
DNAJC25	548645	broad.mit.edu	37	9	114411796	114411796	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114411796C>T	ENST00000313525.3	+	3	609	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	185						integral component of membrane (GO:0016021)		p.R185C(1)		kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						GCCCAAGTACCGTATCCAAGC	0.408																																					p.R185C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C553T	9						.						45.0	43.0	44.0					9																	114411796		1862	4103	5965	113451617	SO:0001583	missense	548645	exon3				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.553C>T	9.37:g.114411796C>T	ENSP00000320650:p.Arg185Cys		113451617	NM_001015882	Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430744	0.83776	.	.	ENSG00000059769	ENST00000313525	T	0.56103	0.48	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.87758	2.905	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.63180	-0.6695	10	0.87932	D	0	-9.6171	13.9053	0.63831	0.0:0.9302:0.0:0.0698	.	185	Q9H1X3	DJC25_HUMAN	C	185	ENSP00000320650:R185C	ENSP00000320650:R185C	R	+	1	0	DNAJC25	113451617	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.565000	0.67365	1.627000	0.50400	0.655000	0.94253	CGT		0.408	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882	
C9orf84	158401	broad.mit.edu	37	9	114454043	114454043	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114454043G>A	ENST00000318737.4	-	25	4150	c.4022C>T	c.(4021-4023)tCt>tTt	p.S1341F	C9orf84_ENST00000394779.3_Missense_Mutation_p.S1302F|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1267F|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1341F	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1341								p.S1302F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGGCCTTCAGACTCATCTGA	0.378																																					p.S1341F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4022T	9						.						75.0	77.0	76.0					9																	114454043		2203	4299	6502	113493864	SO:0001583	missense	158401	exon25			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.4022C>T	9.37:g.114454043G>A	ENSP00000322108:p.Ser1341Phe		113493864	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187317	0.01620	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04317	3.65;3.65;3.66;3.66	5.29	1.67	0.24075	.	1.353740	0.05203	N	0.505378	T	0.02571	0.0078	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45145	-0.9281	10	0.34782	T	0.22	3.9055	7.5884	0.28006	0.7501:0.0:0.2499:0.0	.	1267;1341;1302	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	F	1302;1267;955;1341;1341	ENSP00000378259:S1302F;ENSP00000378257:S1267F;ENSP00000363405:S1341F;ENSP00000322108:S1341F	ENSP00000322108:S1341F	S	-	2	0	C9orf84	113493864	0.016000	0.18221	0.000000	0.03702	0.015000	0.08874	1.870000	0.39529	0.132000	0.18615	-0.483000	0.04790	TCT		0.378	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
C9orf84	158401	broad.mit.edu	37	9	114462234	114462234	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114462234C>A	ENST00000318737.4	-	22	3119	c.2991G>T	c.(2989-2991)aaG>aaT	p.K997N	C9orf84_ENST00000394779.3_Splice_Site_p.K958N|C9orf84_ENST00000394777.4_Splice_Site_p.K923N|C9orf84_ENST00000374287.3_Splice_Site_p.K997N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	997								p.K958N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAAGAATACCTTTACATCCA	0.323																																					p.K997N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2991T	9						.						96.0	100.0	99.0					9																	114462234		2203	4300	6503	113502055	SO:0001630	splice_region_variant	158401	exon22			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2991+1G>T	9.37:g.114462234C>A			113502055	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785881	0.90282	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05649	3.41;3.45;3.42;3.42	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000017	T	0.15869	0.0382	N	0.24115	0.695	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07927	-1.0747	9	.	.	.	-12.5564	20.2585	0.98435	0.0:1.0:0.0:0.0	.	923;997;958	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	958;923;611;997;997	ENSP00000378259:K958N;ENSP00000378257:K923N;ENSP00000363405:K997N;ENSP00000322108:K997N	.	K	-	3	2	C9orf84	113502055	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.260000	0.72502	2.894000	0.99253	0.655000	0.94253	AAG		0.323	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	Missense_Mutation
UGCG	7357	broad.mit.edu	37	9	114691815	114691815	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114691815C>A	ENST00000374279.3	+	6	1044	c.594C>A	c.(592-594)atC>atA	p.I198I	UGCG_ENST00000495085.1_3'UTR|MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	198					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.I198I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GATACTATATCTCTGCCAATG	0.368																																					p.I198I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594A	9						.						117.0	111.0	113.0					9																	114691815		2203	4300	6503	113731636	SO:0001819	synonymous_variant	7357	exon6			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.594C>A	9.37:g.114691815C>A			113731636	NM_003358	Q5T258	Silent	SNP	ENST00000374279.3	37	CCDS6782.1																																																																																				0.368	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358	
SUSD1	64420	broad.mit.edu	37	9	114804237	114804237	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114804237G>A	ENST00000374270.3	-	16	2325	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	SUSD1_ENST00000374263.3_Missense_Mutation_p.R705C|SUSD1_ENST00000374264.2_Missense_Mutation_p.R740C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	718						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S718L(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATGAGTGACGAATCTGTGGG	0.552																																					p.S718L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2153T	9						.						129.0	115.0	120.0					9																	114804237		2203	4300	6503	113844058	SO:0001583	missense	64420	exon16			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2153C>T	9.37:g.114804237G>A	ENSP00000363388:p.Ser718Leu		113844058	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.33|16.33	3.094074|3.094074	0.56075|0.56075	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374263;ENST00000374264|ENST00000355396;ENST00000374270	T;T|T	0.75477|0.38077	0.79;-0.94|1.16	5.08|5.08	4.17|4.17	0.49024|0.49024	.|.	1.144410|.	0.06667|.	N|.	0.765560|.	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.45581|0.45581	1.43|1.43	0.28303|0.28303	N|N	0.923025|0.923025	D;B|B	0.76494|0.10296	0.999;0.012|0.003	P;B|B	0.62014|0.04013	0.897;0.003|0.001	T|T	0.17745|0.17745	-1.0359|-1.0359	10|8	0.87932|.	D|.	0|.	-0.4096|-0.4096	9.8051|9.8051	0.40789|0.40789	0.0966:0.0:0.9034:0.0|0.0966:0.0:0.9034:0.0	.|.	705;740|718	F8WAQ1;Q6UWL2-2|Q6UWL2	.;.|SUSD1_HUMAN	C|L	705;740|688;718	ENSP00000363381:R705C;ENSP00000363382:R740C|ENSP00000363388:S718L	ENSP00000363381:R705C|.	R|S	-|-	1|2	0|0	SUSD1|SUSD1	113844058|113844058	0.888000|0.888000	0.30383|0.30383	0.022000|0.022000	0.16811|0.16811	0.927000|0.927000	0.56198|0.56198	2.771000|2.771000	0.47670|0.47670	1.112000|1.112000	0.41740|0.41740	0.561000|0.561000	0.74099|0.74099	CGT|TCG		0.552	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
SUSD1	64420	broad.mit.edu	37	9	114864551	114864551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:114864551C>A	ENST00000374270.3	-	9	1358	c.1186G>T	c.(1186-1188)Gaa>Taa	p.E396*	SUSD1_ENST00000374263.3_Nonsense_Mutation_p.E396*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.E396*	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	396						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E396*(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCATCATCTTCTAAGAGATCA	0.363																																					p.E396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1186T	9						.						46.0	47.0	47.0					9																	114864551		2202	4296	6498	113904372	SO:0001587	stop_gained	64420	exon9			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1186G>T	9.37:g.114864551C>A	ENSP00000363388:p.Glu396*		113904372	NM_022486	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Nonsense_Mutation	SNP	ENST00000374270.3	37	CCDS6783.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.26|17.26|17.26	3.343856|3.343856|3.343856	0.61073|0.61073|0.61073	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396|ENST00000415074	.|.|.	.|.|.	.|.|.	4.41|4.41|4.41	4.41|4.41|4.41	0.53225|0.53225|0.53225	.|.|.	0.348019|.|.	0.20765|.|.	N|.|.	0.086085|.|.	.|T|.	.|0.62368|.	.|0.2422|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.70066|.	.|-0.4974|.	.|3|.	0.40728|.|.	T|.|.	0.16|.|.	-14.079|-14.079|-14.079	12.8623|12.8623|12.8623	0.57920|0.57920|0.57920	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	396|379|222	.|.|.	ENSP00000363381:E396X|.|.	E|R|X	-|-|-	1|2|3	0|0|2	SUSD1|SUSD1|SUSD1	113904372|113904372|113904372	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.617000|0.617000|0.617000	0.37484|0.37484|0.37484	0.962000|0.962000|0.962000	0.29280|0.29280|0.29280	2.161000|2.161000|2.161000	0.67846|0.67846|0.67846	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAA|AGA|TAG		0.363	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486	
INIP	58493	broad.mit.edu	37	9	115449849	115449849	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115449849A>C	ENST00000374242.4	-	5	589	c.284T>G	c.(283-285)cTt>cGt	p.L95R	INIP_ENST00000374236.1_Missense_Mutation_p.L65R|INIP_ENST00000374234.1_Missense_Mutation_p.F35V|INIP_ENST00000374238.1_Missense_Mutation_p.F35V|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	95					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.L95R(1)									TAAAACAGGAAGAATAAGGTT	0.383																																					p.L95R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T284G	9						.						128.0	124.0	125.0					9																	115449849		2203	4300	6503	114489670	SO:0001583	missense	58493	exon5			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.284T>G	9.37:g.115449849A>C	ENSP00000363360:p.Leu95Arg		114489670	NM_021218	Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	CCDS6785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.434769|4.434769	0.83885|0.83885	.|.	.|.	ENSG00000148153|ENSG00000148153	ENST00000374238;ENST00000374234|ENST00000374242;ENST00000374236	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65554|0.65554	0.2702|0.2702	M|M	0.72894|0.72894	2.215|2.215	0.36737|0.36737	D|D	0.882042|0.882042	.|P	.|0.44429	.|0.835	.|P	.|0.47645	.|0.553	T|T	0.76035|0.76035	-0.3106|-0.3106	6|9	0.87932|0.87932	D|D	0|0	-19.5197|-19.5197	15.2564|15.2564	0.73588|0.73588	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|95	.|Q9NRY2	.|SOSSC_HUMAN	V|R	35|95;65	.|.	ENSP00000363351:F35V|ENSP00000363353:L65R	F|L	-|-	1|2	0|0	C9orf80|C9orf80	114489670|114489670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.904000|7.904000	0.87408|0.87408	2.326000|2.326000	0.78906|0.78906	0.472000|0.472000	0.43445|0.43445	TTC|CTT		0.383	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218	
INIP	58493	broad.mit.edu	37	9	115451893	115451893	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115451893C>T	ENST00000374242.4	-	4	438	c.133G>A	c.(133-135)Gca>Aca	p.A45T	INIP_ENST00000374236.1_Missense_Mutation_p.A15T|INIP_ENST00000374234.1_Intron|INIP_ENST00000374238.1_Intron|INIP_ENST00000497712.2_5'UTR	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	45					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.A45T(1)									CTCGAGAGTGCAATGCTAAAA	0.423																																					p.A45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	9						.						111.0	101.0	104.0					9																	115451893		2203	4300	6503	114491714	SO:0001583	missense	58493	exon4			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.133G>A	9.37:g.115451893C>T	ENSP00000363360:p.Ala45Thr		114491714	NM_021218	Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421151	0.42918	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	3.73	0.42828	.	0.320592	0.38058	N	0.001836	T	0.40932	0.1137	L	0.29908	0.895	0.50171	D	0.999859	B	0.13594	0.008	B	0.12837	0.008	T	0.29427	-1.0012	9	0.02654	T	1	-0.6776	14.1458	0.65349	0.4601:0.5399:0.0:0.0	.	45	Q9NRY2	SOSSC_HUMAN	T	45;15	.	ENSP00000363353:A15T	A	-	1	0	C9orf80	114491714	0.807000	0.29009	0.026000	0.17262	0.185000	0.23345	0.852000	0.27764	0.703000	0.31848	0.579000	0.79373	GCA		0.423	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218	
ZNF883	169834	broad.mit.edu	37	9	115759612	115759612	+	lincRNA	SNP	G	G	A	rs201148870		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115759612G>A	ENST00000427548.1	-	0	2201							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCTGATGTCGAATTAGTGAT	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		21102	0.0		0.0	False		,,,				2504	0.001				p.R310X												.	.	0			c.C928T	9						.	G	stop/ARG	0,4308		0,0,2154	177.0	193.0	187.0		928	-3.7	0.1	9		187	1,8549		0,1,4274	yes	stop-gained	ZNF883	NM_001101338.1		0,1,6428	AA,AG,GG		0.0117,0.0,0.0078		310/380	115759612	1,12857	2154	4275	6429	114799433			169834	exon5			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759612G>A			114799433	NM_001101338		Nonsense_Mutation	SNP	ENST00000427548.1	37																																																																																					0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
ZNF883	169834	broad.mit.edu	37	9	115760190	115760190	+	lincRNA	SNP	C	C	A	rs185997453		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115760190C>A	ENST00000427548.1	-	0	1623							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTATGGATTCTCTCATGATT	0.383																																					p.R117I												.	.	0			c.G350T	9						.						64.0	69.0	68.0					9																	115760190		2164	4286	6450	114800011			169834	exon5			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760190C>A			114800011	NM_001101338		Missense_Mutation	SNP	ENST00000427548.1	37																																																																																					0.383	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
ZNF883	169834	broad.mit.edu	37	9	115760510	115760510	+	lincRNA	SNP	C	C	T	rs575473956		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115760510C>T	ENST00000427548.1	-	0	1303							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GATATGGGTTCGCGGTCATAT	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		18383	0.0		0.001	False		,,,				2504	0.0				p.A10A												.	.	0			c.G30A	9						.						75.0	75.0	75.0					9																	115760510		1885	4087	5972	114800331			169834	exon5			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760510C>T			114800331	NM_001101338		Silent	SNP	ENST00000427548.1	37																																																																																					0.363	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
ZFP37	7539	broad.mit.edu	37	9	115805204	115805204	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115805204C>A	ENST00000374227.3	-	4	1721	c.1694G>T	c.(1693-1695)aGa>aTa	p.R565I	ZFP37_ENST00000555206.1_Missense_Mutation_p.R566I|ZFP37_ENST00000553380.1_Missense_Mutation_p.R580I	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R565I(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTATGAGTTCTCTGATGTAC	0.403																																					p.R565I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1694T	9						.						124.0	117.0	120.0					9																	115805204		2203	4300	6503	114845025	SO:0001583	missense	7539	exon4			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1694G>T	9.37:g.115805204C>A	ENSP00000363344:p.Arg565Ile		114845025	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153043	0.57259	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.24908	1.83;1.83;1.83	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000187	T	0.50718	0.1632	M	0.73598	2.24	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79784	0.993;0.993;0.942	T	0.53012	-0.8498	10	0.66056	D	0.02	-23.9685	15.373	0.74581	0.0:1.0:0.0:0.0	.	566;580;565	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	I	565;566;580	ENSP00000363344:R565I;ENSP00000451310:R566I;ENSP00000452552:R580I	ENSP00000363344:R565I	R	-	2	0	ZFP37	114845025	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.597000	0.24059	2.752000	0.94435	0.655000	0.94253	AGA		0.403	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
ZFP37	7539	broad.mit.edu	37	9	115805941	115805941	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115805941T>C	ENST00000374227.3	-	4	984	c.957A>G	c.(955-957)aaA>aaG	p.K319K	ZFP37_ENST00000555206.1_Silent_p.K320K|ZFP37_ENST00000553380.1_Silent_p.K334K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K319K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATTCATATGGTTTCTCCCCAG	0.403																																					p.K319K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A957G	9						.						145.0	136.0	139.0					9																	115805941		2203	4300	6503	114845762	SO:0001819	synonymous_variant	7539	exon4			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.957A>G	9.37:g.115805941T>C			114845762	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	CCDS6787.1																																																																																				0.403	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
ZFP37	7539	broad.mit.edu	37	9	115806154	115806154	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115806154T>C	ENST00000374227.3	-	4	771	c.744A>G	c.(742-744)aaA>aaG	p.K248K	ZFP37_ENST00000555206.1_Silent_p.K249K|ZFP37_ENST00000553380.1_Silent_p.K263K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATTTGTCATGTTTTTTGCCAG	0.363																																					p.K248K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A744G	9						.						236.0	228.0	231.0					9																	115806154		2203	4300	6503	114845975	SO:0001819	synonymous_variant	7539	exon4			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.744A>G	9.37:g.115806154T>C			114845975	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Silent	SNP	ENST00000374227.3	37	CCDS6787.1																																																																																				0.363	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
ZFP37	7539	broad.mit.edu	37	9	115818941	115818941	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:115818941G>T	ENST00000374227.3	-	1	55	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	ZFP37_ENST00000555206.1_Missense_Mutation_p.L10M|ZFP37_ENST00000553380.1_Missense_Mutation_p.L10M	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L10M(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCTTTGTCAGAATCTGGACG	0.682																																					p.L10M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28A	9						.						81.0	80.0	80.0					9																	115818941		2203	4300	6503	114858762	SO:0001583	missense	7539	exon1			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.28C>A	9.37:g.115818941G>T	ENSP00000363344:p.Leu10Met		114858762	NM_003408	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121628	0.56613	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.06449	3.41;3.36;3.3	3.19	2.28	0.28536	.	.	.	.	.	T	0.05135	0.0137	N	0.08118	0	0.09310	N	1	D;D;P	0.54964	0.969;0.969;0.948	P;P;B	0.50708	0.648;0.648;0.446	T	0.40924	-0.9537	9	0.36615	T	0.2	.	6.288	0.21043	0.1374:0.0:0.8626:0.0	.	10;10;10	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	M	10	ENSP00000363344:L10M;ENSP00000451310:L10M;ENSP00000452552:L10M	ENSP00000363344:L10M	L	-	1	2	ZFP37	114858762	0.031000	0.19500	0.238000	0.24106	0.062000	0.15995	0.676000	0.25247	0.896000	0.36366	0.558000	0.71614	CTG		0.682	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
SLC31A1	1317	broad.mit.edu	37	9	116021075	116021075	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116021075C>T	ENST00000374212.4	+	4	456	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CDC26_ENST00000490408.1_Intron|SLC31A1_ENST00000374210.6_Missense_Mutation_p.R102C	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	102					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)	p.R102C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGTCAGCATTCGCTACAATTC	0.458																																					p.R102C	Ovarian(135;1049 1799 4519 17564 28677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C304T	9						.						151.0	130.0	137.0					9																	116021075		2203	4300	6503	115060896	SO:0001583	missense	1317	exon4			U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.304C>T	9.37:g.116021075C>T	ENSP00000363329:p.Arg102Cys		115060896	NM_001859	A8K8Z6|Q53GR5|Q5T1M4	Missense_Mutation	SNP	ENST00000374212.4	37	CCDS6789.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840027	0.91117	.	.	ENSG00000136868	ENST00000374212;ENST00000374210	T;T	0.78246	-1.16;-1.16	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.939	D	0.87509	0.2438	10	0.62326	D	0.03	-10.4524	14.4332	0.67264	0.0:0.9282:0.0:0.0718	.	102;102	Q5T1M3;O15431	.;COPT1_HUMAN	C	102	ENSP00000363329:R102C;ENSP00000363327:R102C	ENSP00000363327:R102C	R	+	1	0	SLC31A1	115060896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.745000	0.94114	0.650000	0.86243	CGC		0.458	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859	
C9orf43	257169	broad.mit.edu	37	9	116190496	116190496	+	Missense_Mutation	SNP	C	C	T	rs538217577		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116190496C>T	ENST00000288462.4	+	12	1546	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	C9orf43_ENST00000374165.1_Missense_Mutation_p.S367L	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	367								p.S367L(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GGAACCACTTCGAAACAGGTG	0.433																																					p.S367L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1100T	9						.						164.0	156.0	159.0					9																	116190496		2203	4300	6503	115230317	SO:0001583	missense	257169	exon12			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1100C>T	9.37:g.116190496C>T	ENSP00000288462:p.Ser367Leu		115230317	NM_152786		Missense_Mutation	SNP	ENST00000288462.4	37	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	C	5.170	0.216994	0.09810	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.47177	0.85;0.85	4.22	-5.8	0.02347	.	2.491310	0.01579	N	0.020996	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35525	-0.9785	10	0.05525	T	0.97	17.7815	6.5507	0.22431	0.1312:0.436:0.0:0.4328	.	367	Q8TAL5	CI043_HUMAN	L	367	ENSP00000363280:S367L;ENSP00000288462:S367L	ENSP00000288462:S367L	S	+	2	0	C9orf43	115230317	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.116000	0.03286	-1.214000	0.02614	-1.162000	0.01777	TCG		0.433	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786	
RGS3	5998	broad.mit.edu	37	9	116358042	116358042	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116358042G>T	ENST00000374140.2	+	25	3617	c.3408G>T	c.(3406-3408)aaG>aaT	p.K1136N	RGS3_ENST00000343817.5_Missense_Mutation_p.K855N|RGS3_ENST00000462403.1_Missense_Mutation_p.K249N|RGS3_ENST00000350696.5_Missense_Mutation_p.K1136N|RGS3_ENST00000342620.5_Missense_Mutation_p.K106N|RGS3_ENST00000374134.3_Missense_Mutation_p.K457N|RGS3_ENST00000462143.1_Missense_Mutation_p.K457N|RGS3_ENST00000394646.3_Missense_Mutation_p.K529N	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1136	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K1136N(1)|p.K1032N(1)|p.K249N(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGCATGCAAGGAGGTAGGAC	0.582																																					p.K1136N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3408T	9						.						147.0	119.0	129.0					9																	116358042		2203	4300	6503	115397863	SO:0001583	missense	5998	exon25			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3408G>T	9.37:g.116358042G>T	ENSP00000363255:p.Lys1136Asn		115397863	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843881	0.51164	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.01963	4.53;4.53;4.53;4.53;4.53;4.53;4.53;4.53	5.46	-0.374	0.12512	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.09598	0.0236	M	0.78637	2.42	0.53005	D	0.99996	P;P;D;D;D;D	0.89917	0.698;0.932;1.0;1.0;1.0;1.0	B;P;D;D;D;D	0.91635	0.329;0.859;0.997;0.999;0.999;0.998	T	0.00945	-1.1505	10	0.87932	D	0	.	9.544	0.39268	0.5353:0.0:0.4647:0.0	.	529;249;1032;855;1026;1136	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	N	1136;1136;855;529;304;457;106;457;249	ENSP00000363255:K1136N;ENSP00000259406:K1136N;ENSP00000340284:K855N;ENSP00000378141:K529N;ENSP00000420356:K457N;ENSP00000343359:K106N;ENSP00000363249:K457N;ENSP00000436168:K249N	ENSP00000343359:K106N	K	+	3	2	RGS3	115397863	1.000000	0.71417	0.998000	0.56505	0.649000	0.38597	2.403000	0.44530	0.019000	0.15079	0.456000	0.33151	AAG		0.582	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
ZNF618	114991	broad.mit.edu	37	9	116794994	116794994	+	Missense_Mutation	SNP	C	C	T	rs552764833		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116794994C>T	ENST00000374126.5	+	12	1253	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ZNF618_ENST00000288466.7_Missense_Mutation_p.S292L|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	385					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.S385L(1)|p.S292L(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AACAGCAGTTCGCAGAACTCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.001		0.0	False		,,,				2504	0.0				p.S292L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C875T	9						.						106.0	116.0	113.0					9																	116794994		2053	4178	6231	115834815	SO:0001583	missense	114991	exon11			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1154C>T	9.37:g.116794994C>T	ENSP00000363241:p.Ser385Leu		115834815	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	C	28.1	4.893462	0.91889	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.21932	4.42;2.41;1.98	5.57	5.57	0.84162	.	0.430127	0.25636	N	0.029313	T	0.47340	0.1440	.	.	.	0.54753	D	0.999989	D;D;D;D	0.89917	0.994;0.998;1.0;0.999	D;D;D;P	0.83275	0.921;0.945;0.996;0.889	T	0.20907	-1.0261	9	0.33141	T	0.24	-18.1385	18.5351	0.91008	0.0:1.0:0.0:0.0	.	372;352;385;292	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2	.;.;ZN618_HUMAN;.	L	385;292;301;372	ENSP00000288466:S292L;ENSP00000395400:S301L;ENSP00000363239:S372L	ENSP00000288466:S292L	S	+	2	0	ZNF618	115834815	1.000000	0.71417	0.974000	0.42286	0.741000	0.42261	6.905000	0.75714	2.619000	0.88677	0.561000	0.74099	TCG		0.592	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
ZNF618	114991	broad.mit.edu	37	9	116811400	116811400	+	Silent	SNP	C	C	T	rs369421645		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116811400C>T	ENST00000374126.5	+	15	1917	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ZNF618_ENST00000288466.7_Silent_p.F513F|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	606					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.F606F(1)|p.F513F(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGTTCGTGATGTCGG	0.597																																					p.F513F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1539T	9						.	T		1,4381	2.1+/-5.4	0,1,2190	104.0	104.0	104.0		1539	-4.1	0.9	9		104	0,8556		0,0,4278	no	coding-synonymous	ZNF618	NM_133374.2		0,1,6468	TT,TC,CC		0.0,0.0228,0.0077		513/862	116811400	1,12937	2191	4278	6469	115851221	SO:0001819	synonymous_variant	114991	exon14			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1818C>T	9.37:g.116811400C>T			115851221	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																					0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
COL27A1	85301	broad.mit.edu	37	9	116956726	116956726	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:116956726G>A	ENST00000356083.3	+	6	2450	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	687	Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.D687N(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAAGGCCCACGATGGGGCAAA	0.522																																					p.D687N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2059A	9						.						137.0	144.0	142.0					9																	116956726		2203	4300	6503	115996547	SO:0001583	missense	85301	exon6			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2059G>A	9.37:g.116956726G>A	ENSP00000348385:p.Asp687Asn		115996547	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378728	0.42207	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.94232	-3.38	5.29	4.39	0.52855	.	.	.	.	.	D	0.84406	0.5465	N	0.25957	0.775	0.26704	N	0.971113	P	0.46457	0.878	B	0.32533	0.147	T	0.76149	-0.3065	9	0.23891	T	0.37	.	8.8674	0.35294	0.0998:0.0:0.9002:0.0	.	687	Q8IZC6	CORA1_HUMAN	N	687	ENSP00000348385:D687N	ENSP00000348385:D687N	D	+	1	0	COL27A1	115996547	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.862000	0.48388	2.457000	0.83068	0.655000	0.94253	GAT		0.522	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
COL27A1	85301	broad.mit.edu	37	9	117012943	117012943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117012943G>T	ENST00000356083.3	+	25	3419	c.3028G>T	c.(3028-3030)Gaa>Taa	p.E1010*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1010	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.E1010*(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AATCGTGGGAGAAAAGGTAAG	0.453																																					p.E1010X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3028T	9						.						299.0	323.0	315.0					9																	117012943		2203	4300	6503	116052764	SO:0001587	stop_gained	85301	exon25			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3028G>T	9.37:g.117012943G>T	ENSP00000348385:p.Glu1010*		116052764	NM_032888	Q66K43|Q96JF7	Nonsense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	45	11.879127	0.99613	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	14.4801	0.67576	0.0:0.0:1.0:0.0	.	.	.	.	X	1010	.	ENSP00000348385:E1010X	E	+	1	0	COL27A1	116052764	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.866000	0.69590	2.495000	0.84180	0.655000	0.94253	GAA		0.453	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
COL27A1	85301	broad.mit.edu	37	9	117027362	117027362	+	Missense_Mutation	SNP	G	G	A	rs146653470		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117027362G>A	ENST00000356083.3	+	31	3702	c.3311G>A	c.(3310-3312)cGa>cAa	p.R1104Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1104	Collagen-like 8.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R1104Q(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTGGTGAGCGAGGCCACTTG	0.602																																					p.R1104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3311A	9						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	86.0	92.0	90.0		3311	3.0	1.0	9	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL27A1	NM_032888.2	43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	1104/1861	117027362	3,13003	2203	4300	6503	116067183	SO:0001583	missense	85301	exon31			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3311G>A	9.37:g.117027362G>A	ENSP00000348385:p.Arg1104Gln		116067183	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903557	0.33628	4.54E-4	1.16E-4	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.94092	-3.35	4.91	3.02	0.34903	.	.	.	.	.	D	0.91229	0.7236	L	0.45352	1.415	0.27310	N	0.957343	D	0.63046	0.992	P	0.55260	0.772	T	0.81707	-0.0810	9	0.10111	T	0.7	.	6.4553	0.21926	0.0939:0.0:0.7277:0.1784	.	1104	Q8IZC6	CORA1_HUMAN	Q	1104	ENSP00000348385:R1104Q	ENSP00000348385:R1104Q	R	+	2	0	COL27A1	116067183	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	1.125000	0.31332	0.574000	0.29417	-0.219000	0.12488	CGA		0.602	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
ORM1	5004	broad.mit.edu	37	9	117087090	117087090	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117087090G>A	ENST00000259396.8	+	4	427	c.349G>A	c.(349-351)Gct>Act	p.A117T	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	117					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A117T(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	AGAGCATTTCGCTCACTTGCT	0.522																																					p.A117T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	9						.						136.0	136.0	136.0					9																	117087090		2203	4300	6503	116126911	SO:0001583	missense	5004	exon4				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.349G>A	9.37:g.117087090G>A	ENSP00000259396:p.Ala117Thr		116126911	NM_000607	B7ZKQ5|Q5T539|Q5U067|Q8TC16	Missense_Mutation	SNP	ENST00000259396.8	37	CCDS6803.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933886	0.52866	.	.	ENSG00000229314	ENST00000259396	T	0.09630	2.96	4.24	2.27	0.28462	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.575378	0.18350	N	0.143911	T	0.18002	0.0432	M	0.66939	2.045	0.09310	N	1	D	0.65815	0.995	P	0.52672	0.706	T	0.07366	-1.0776	10	0.66056	D	0.02	-0.5157	5.5457	0.17063	0.1086:0.0:0.6963:0.195	.	117	P02763	A1AG1_HUMAN	T	117	ENSP00000259396:A117T	ENSP00000259396:A117T	A	+	1	0	ORM1	116126911	0.023000	0.18921	0.000000	0.03702	0.012000	0.07955	2.554000	0.45845	0.436000	0.26393	0.205000	0.17691	GCT		0.522	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1		
AKNA	80709	broad.mit.edu	37	9	117138749	117138749	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117138749G>A	ENST00000307564.4	-	3	1499	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Silent_p.L446L|AKNA_ENST00000312033.3_Silent_p.L446L|AKNA_ENST00000374075.5_Silent_p.L365L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	446					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L446L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CACTAACCTGGAGCTGATGGA	0.602																																					p.L446L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	9						.						50.0	51.0	51.0					9																	117138749		2203	4300	6503	116178570	SO:0001819	synonymous_variant	80709	exon3			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1338C>T	9.37:g.117138749G>A			116178570	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1																																																																																				0.602	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
AKNA	80709	broad.mit.edu	37	9	117139240	117139240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117139240C>A	ENST00000307564.4	-	3	1008	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Nonsense_Mutation_p.E283*|AKNA_ENST00000312033.3_Nonsense_Mutation_p.E283*|AKNA_ENST00000374075.5_Nonsense_Mutation_p.E202*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	283					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E283*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTGGTCGTTTCTCTCCTCCAT	0.562																																					p.E283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G847T	9						.						112.0	100.0	104.0					9																	117139240		2203	4300	6503	116179061	SO:0001587	stop_gained	80709	exon3			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.847G>T	9.37:g.117139240C>A	ENSP00000303769:p.Glu283*		116179061	NM_030767	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Nonsense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420130	0.96111	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	.	.	.	4.4	3.48	0.39840	.	1.645760	0.03790	N	0.262756	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.0175	10.0974	0.42484	0.0:0.796:0.204:0.0	.	.	.	.	X	283;124;283;202;283;283	.	ENSP00000303769:E283X	E	-	1	0	AKNA	116179061	0.000000	0.05858	0.002000	0.10522	0.085000	0.17905	0.606000	0.24194	1.029000	0.39812	0.561000	0.74099	GAA		0.562	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	
DFNB31	25861	broad.mit.edu	37	9	117188639	117188639	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117188639C>T	ENST00000362057.3	-	4	1186	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	DFNB31_ENST00000374059.3_5'Flank|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	340	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.D340Y(1)|p.D340N(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGCCTCGTCGTGTAGGATG	0.567																																					p.D340N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1018A	9						.						106.0	92.0	97.0					9																	117188639		2203	4300	6503	116228460	SO:0001583	missense	25861	exon4			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1018G>A	9.37:g.117188639C>T	ENSP00000354623:p.Asp340Asn		116228460	NM_015404	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011083	0.93346	.	.	ENSG00000095397	ENST00000362057	T	0.33216	1.42	5.05	5.05	0.67936	PDZ/DHR/GLGF (4);	0.149852	0.56097	D	0.000021	T	0.45915	0.1366	L	0.28740	0.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.981	T	0.44787	-0.9305	10	0.54805	T	0.06	-28.4029	18.3926	0.90489	0.0:1.0:0.0:0.0	.	340;340	B9EGE6;Q9P202	.;WHRN_HUMAN	N	340	ENSP00000354623:D340N	ENSP00000354623:D340N	D	-	1	0	DFNB31	116228460	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	7.376000	0.79658	2.361000	0.80049	0.561000	0.74099	GAC		0.567	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404	
TNFSF8	944	broad.mit.edu	37	9	117666367	117666367	+	Silent	SNP	C	C	T	rs373154083		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117666367C>T	ENST00000223795.2	-	4	662	c.549G>A	c.(547-549)acG>acA	p.T183T	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	183					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)	p.T183T(2)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATACGTGTTTCGTTTGCATTC	0.418																																					p.T183T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G549A	9						.	C		1,4405	2.1+/-5.4	0,1,2202	260.0	225.0	237.0		549	-0.9	0.0	9		237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNFSF8	NM_001244.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		183/235	117666367	2,13004	2203	4300	6503	116706188	SO:0001819	synonymous_variant	944	exon4			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.549G>A	9.37:g.117666367C>T			116706188	NM_001244	O43404	Silent	SNP	ENST00000223795.2	37	CCDS6810.1																																																																																				0.418	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1		
TNC	3371	broad.mit.edu	37	9	117793863	117793863	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117793863C>T	ENST00000350763.4	-	23	6300	c.5889G>A	c.(5887-5889)agG>agA	p.R1963R	TNC_ENST00000341037.4_Silent_p.R1781R|TNC_ENST00000542877.1_Silent_p.R1600R|TNC_ENST00000346706.3_Silent_p.R1417R|TNC_ENST00000340094.3_Silent_p.R1599R|TNC_ENST00000423613.2_Silent_p.R1690R|TNC_ENST00000345230.3_Silent_p.R1326R|TNC_ENST00000535648.1_Silent_p.R1508R|TNC_ENST00000537320.1_Silent_p.R1326R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1963	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R1963R(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCATATTGCTCCTCAGGGGCC	0.537																																					p.R1963R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5889A	9						.						200.0	171.0	181.0					9																	117793863		2203	4300	6503	116833684	SO:0001819	synonymous_variant	3371	exon23				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5889G>A	9.37:g.117793863C>T			116833684	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	8.691	0.907411	0.17833	.	.	ENSG00000041982	ENST00000544972	.	.	.	6.08	4.26	0.50523	.	.	.	.	.	T	0.59307	0.2184	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55379	-0.8150	4	.	.	.	.	9.0379	0.36300	0.0:0.7263:0.0:0.2737	.	.	.	.	K	526	.	.	E	-	1	0	TNC	116833684	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.163000	0.31798	0.912000	0.36772	0.655000	0.94253	GAG		0.537	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
TNC	3371	broad.mit.edu	37	9	117846615	117846615	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:117846615G>A	ENST00000350763.4	-	4	2415	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	TNC_ENST00000341037.4_Silent_p.F668F|TNC_ENST00000542877.1_Silent_p.F668F|TNC_ENST00000346706.3_Silent_p.F668F|TNC_ENST00000340094.3_Silent_p.F668F|TNC_ENST00000423613.2_Silent_p.F668F|TNC_ENST00000345230.3_Silent_p.F668F|TNC_ENST00000535648.1_Silent_p.F668F|TNC_ENST00000537320.1_Silent_p.F668F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	668	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.F668F(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCACACGGAACTGCATTT	0.567																																					p.F668F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2004T	9						.						125.0	115.0	118.0					9																	117846615		2203	4300	6503	116886436	SO:0001819	synonymous_variant	3371	exon4				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2004C>T	9.37:g.117846615G>A			116886436	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PAPPA	5069	broad.mit.edu	37	9	118989817	118989817	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:118989817C>A	ENST00000328252.3	+	6	2588	c.2219C>A	c.(2218-2220)cCt>cAt	p.P740H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	740					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P740H(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACTGGAGCCCTCGTGAAGCA	0.493																																					p.P740H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2219A	9						.						87.0	73.0	77.0					9																	118989817		2203	4300	6503	118029638	SO:0001583	missense	5069	exon6				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2219C>A	9.37:g.118989817C>A	ENSP00000330658:p.Pro740His		118029638	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478709	0.84747	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.03358	3.96	5.85	4.96	0.65561	.	0.092037	0.85682	D	0.000000	T	0.20210	0.0486	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00945	-1.1505	10	0.87932	D	0	-8.8241	14.7148	0.69259	0.0:0.9307:0.0:0.0693	.	184;740	E7EMD3;Q13219	.;PAPP1_HUMAN	H	740;184	ENSP00000330658:P740H	ENSP00000330658:P740H	P	+	2	0	PAPPA	118029638	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.783000	0.85696	1.478000	0.48253	0.591000	0.81541	CCT		0.493	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
PAPPA	5069	broad.mit.edu	37	9	119093634	119093634	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:119093634C>T	ENST00000328252.3	+	11	3628	c.3259C>T	c.(3259-3261)Cgg>Tgg	p.R1087W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R125W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1087					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1087W(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTTTTGGCTCCGGGTAAGCTG	0.522																																					p.R1087W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3259T	9						.						89.0	76.0	81.0					9																	119093634		2203	4300	6503	118133455	SO:0001583	missense	5069	exon11				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3259C>T	9.37:g.119093634C>T	ENSP00000330658:p.Arg1087Trp		118133455	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.967267|3.967267	0.74131|0.74131	.|.	.|.	ENSG00000182752|ENSG00000182752	ENST00000443904|ENST00000328252;ENST00000534838	.|T;T	.|0.03982	.|4.53;3.74	6.06|6.06	4.09|4.09	0.47781|0.47781	.|.	.|0.144296	.|0.64402	.|D	.|0.000009	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.08118|0.08118	0|0	0.32185|0.32185	N|N	0.579826|0.579826	.|P;B	.|0.52842	.|0.956;0.002	.|B;B	.|0.42882	.|0.401;0.001	T|T	0.25813|0.25813	-1.0121|-1.0121	6|10	0.66056|0.66056	D|D	0.02|0.02	-9.4169|-9.4169	6.9022|6.9022	0.24288|0.24288	0.2795:0.6314:0.0:0.0891|0.2795:0.6314:0.0:0.0891	.|.	.|125;1087	.|F5GZ19;Q13219	.|.;PAPP1_HUMAN	L|W	530|1087;125	.|ENSP00000330658:R1087W;ENSP00000441461:R125W	ENSP00000400477:P530L|ENSP00000330658:R1087W	P|R	+|+	2|1	0|2	PAPPA|PAPPA	118133455|118133455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	3.006000|3.006000	0.49529|0.49529	1.586000|1.586000	0.49944|0.49944	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	broad.mit.edu	37	9	119625945	119625945	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:119625945G>A	ENST00000313400.4	-	11	2057	c.1957C>T	c.(1957-1959)Cgt>Tgt	p.R653C	ASTN2_ENST00000361209.2_Missense_Mutation_p.R602C|ASTN2_ENST00000373996.3_Missense_Mutation_p.R649C|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	653	EGF-like 2.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R602C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAGCAGTCACGAACTGGCCCG	0.542																																					p.R602C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1804T	9						.						118.0	95.0	103.0					9																	119625945		2203	4300	6503	118665766	SO:0001583	missense	23245	exon10			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1957C>T	9.37:g.119625945G>A	ENSP00000314038:p.Arg653Cys		118665766	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	G	19.30	3.801028	0.70567	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15603	2.58;2.58;2.41;2.62	5.71	5.71	0.89125	.	0.131355	0.51477	D	0.000081	T	0.33469	0.0864	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.01081	-1.1458	9	.	.	.	-11.0318	19.8381	0.96666	0.0:0.0:1.0:0.0	.	602;653;649	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	653;649;376;602	ENSP00000314038:R653C;ENSP00000363108:R649C;ENSP00000363098:R376C;ENSP00000354504:R602C	.	R	-	1	0	ASTN2	118665766	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.008000	0.63991	2.690000	0.91761	0.655000	0.94253	CGT		0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
ASTN2	23245	broad.mit.edu	37	9	119770383	119770383	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:119770383C>T	ENST00000313400.4	-	7	1679	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	ASTN2_ENST00000361209.2_Missense_Mutation_p.D476N|ASTN2_ENST00000373996.3_Missense_Mutation_p.D527N|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	527	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.D476N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTTTCTGGGTCGCAGAGCTGC	0.577																																					p.D476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1426A	9						.						65.0	62.0	63.0					9																	119770383		2203	4300	6503	118810204	SO:0001583	missense	23245	exon6			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1579G>A	9.37:g.119770383C>T	ENSP00000314038:p.Asp527Asn		118810204	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.434533	0.83776	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.16897	2.53;2.53;2.31;2.57	5.67	5.67	0.87782	.	0.059892	0.64402	D	0.000003	T	0.33118	0.0852	L	0.32530	0.975	0.54753	D	0.999985	D;D;D	0.89917	0.996;0.976;1.0	P;P;D	0.79784	0.842;0.51;0.993	T	0.01074	-1.1460	9	.	.	.	-31.0695	19.7848	0.96432	0.0:1.0:0.0:0.0	.	476;527;527	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	N	527;527;254;476	ENSP00000314038:D527N;ENSP00000363108:D527N;ENSP00000363098:D254N;ENSP00000354504:D476N	.	D	-	1	0	ASTN2	118810204	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	7.684000	0.84104	2.673000	0.90976	0.655000	0.94253	GAC		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
ASTN2	23245	broad.mit.edu	37	9	119976846	119976846	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:119976846C>T	ENST00000313400.4	-	3	906	c.806G>A	c.(805-807)cGt>cAt	p.R269H	ASTN2_ENST00000361209.2_Missense_Mutation_p.R269H|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R269H			O75129	ASTN2_HUMAN	astrotactin 2	269					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.R269H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGGATGAACGGAAGCTCTC	0.602																																					p.R269H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G806A	9						.						93.0	81.0	85.0					9																	119976846		2203	4300	6503	119016667	SO:0001583	missense	23245	exon3			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.806G>A	9.37:g.119976846C>T	ENSP00000314038:p.Arg269His		119016667	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088561	0.76756	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.24723	2.0;1.99;1.84	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.38374	0.1038	N	0.24115	0.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	T	0.11397	-1.0589	9	.	.	.	-18.1473	18.6589	0.91465	0.0:1.0:0.0:0.0	.	269;269;269	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	269	ENSP00000314038:R269H;ENSP00000363108:R269H;ENSP00000354504:R269H	.	R	-	2	0	ASTN2	119016667	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.054000	0.71096	2.491000	0.84063	0.655000	0.94253	CGT		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
TLR4	7099	broad.mit.edu	37	9	120475748	120475748	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:120475748A>C	ENST00000355622.6	+	3	1443	c.1342A>C	c.(1342-1344)Aac>Cac	p.N448H	TLR4_ENST00000394487.4_Missense_Mutation_p.N408H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	448					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.N448H(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)	ATCACTCAGAAACCTCATTTA	0.398																																					p.N448H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1342C	9						.						95.0	94.0	94.0					9																	120475748		2203	4300	6503	119515569	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1342A>C	9.37:g.120475748A>C	ENSP00000363089:p.Asn448His		119515569	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176983	0.57692	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.59906	0.23;0.23	5.92	4.76	0.60689	.	0.546700	0.19347	N	0.116520	T	0.64864	0.2637	L	0.38953	1.18	0.09310	N	1	D	0.62365	0.991	D	0.64144	0.922	T	0.58284	-0.7663	10	0.52906	T	0.07	.	13.1913	0.59713	0.8669:0.1331:0.0:0.0	.	448	O00206	TLR4_HUMAN	H	408;448	ENSP00000377997:N408H;ENSP00000363089:N448H	ENSP00000363089:N448H	N	+	1	0	TLR4	119515569	0.974000	0.33945	0.004000	0.12327	0.815000	0.46073	7.667000	0.83888	1.032000	0.39892	0.528000	0.53228	AAC		0.398	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120476223	120476223	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:120476223G>A	ENST00000355622.6	+	3	1918	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	TLR4_ENST00000394487.4_Missense_Mutation_p.R566Q|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	606	LRRCT.				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.R606Q(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)	GAAGTTGAACGAATGGAATGT	0.448																																					p.R606Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1817A	9						.						134.0	116.0	122.0					9																	120476223		2203	4300	6503	119516044	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1817G>A	9.37:g.120476223G>A	ENSP00000363089:p.Arg606Gln		119516044	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568372	0.00895	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37584	1.48;1.19	6.02	2.17	0.27698	Cysteine-rich flanking region, C-terminal (1);	1.192230	0.05693	N	0.592566	T	0.12347	0.0300	N	0.02665	-0.54	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35724	-0.9777	10	0.02654	T	1	.	3.4256	0.07409	0.5961:0.1668:0.1393:0.0978	.	606	O00206	TLR4_HUMAN	Q	566;606	ENSP00000377997:R566Q;ENSP00000363089:R606Q	ENSP00000363089:R606Q	R	+	2	0	TLR4	119516044	0.000000	0.05858	0.645000	0.29479	0.011000	0.07611	0.651000	0.24873	1.090000	0.41315	-0.300000	0.09419	CGA		0.448	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
TLR4	7099	broad.mit.edu	37	9	120476537	120476537	+	Missense_Mutation	SNP	G	G	T	rs56225594		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:120476537G>T	ENST00000355622.6	+	3	2232	c.2131G>T	c.(2131-2133)Gac>Tac	p.D711Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D671Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	711	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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.D711Y(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)	TCACTACAGAGACTTTATTCC	0.468																																					p.D711Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2131T	9						.						100.0	98.0	99.0					9																	120476537		2203	4300	6503	119516358	SO:0001583	missense	7099	exon3			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2131G>T	9.37:g.120476537G>T	ENSP00000363089:p.Asp711Tyr		119516358	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854142	0.91355	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.21031	2.03;2.03	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60084	-0.7332	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	711	O00206	TLR4_HUMAN	Y	671;711	ENSP00000377997:D671Y;ENSP00000363089:D711Y	ENSP00000363089:D711Y	D	+	1	0	TLR4	119516358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.529000	0.98049	2.861000	0.98227	0.655000	0.94253	GAC		0.468	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
BRINP1	1620	broad.mit.edu	37	9	121930276	121930276	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:121930276G>A	ENST00000265922.3	-	8	1833	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	458					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R458*(2)									CAGCGGCCTCGATACAGCTTG	0.597																																					p.R458X												.	.	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1372T	9						.						81.0	74.0	77.0					9																	121930276		2203	4300	6503	120970097	SO:0001587	stop_gained	1620	exon8			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1372C>T	9.37:g.121930276G>A	ENSP00000265922:p.Arg458*		120970097	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	40	8.202170	0.98704	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	.	.	.	5.55	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-6.7066	15.6962	0.77502	0.0:0.0:0.7324:0.2676	.	.	.	.	X	458	.	ENSP00000265922:R458X	R	-	1	2	DBC1	120970097	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.329000	0.52060	1.273000	0.44346	0.655000	0.94253	CGA		0.597	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
CDK5RAP2	55755	broad.mit.edu	37	9	123165285	123165285	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123165285C>T	ENST00000349780.4	-	34	5285	c.5106G>A	c.(5104-5106)tcG>tcA	p.S1702S	CDK5RAP2_ENST00000360822.3_Silent_p.S1670S|CDK5RAP2_ENST00000359309.3_Silent_p.S1661S|CDK5RAP2_ENST00000360190.4_Silent_p.S1623S|CDK5RAP2_ENST00000480467.1_5'UTR	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1702					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.S1702S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCTAGTTGCCGAACTGCCAC	0.547																																					p.S1702S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5106A	9						.						82.0	81.0	81.0					9																	123165285		2203	4300	6503	122205106	SO:0001819	synonymous_variant	55755	exon34			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5106G>A	9.37:g.123165285C>T			122205106	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.547	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CDK5RAP2	55755	broad.mit.edu	37	9	123169448	123169448	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123169448C>T	ENST00000349780.4	-	32	4984	c.4805G>A	c.(4804-4806)cGc>cAc	p.R1602H	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1570H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1561H|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1602					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1602H(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TAGTTGCAAGCGCAGAGCCTG	0.587																																					p.R1602H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4805A	9						.						93.0	80.0	85.0					9																	123169448		2203	4300	6503	122209269	SO:0001583	missense	55755	exon32			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4805G>A	9.37:g.123169448C>T	ENSP00000343818:p.Arg1602His		122209269	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011446	0.54468	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.63913	1.67;1.7;1.63;1.04;-0.07	5.36	3.49	0.39957	.	0.146453	0.32015	N	0.006710	T	0.72748	0.3499	M	0.75777	2.31	0.26369	N	0.976912	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	P;P;P;P	0.61003	0.882;0.882;0.765;0.882	T	0.65471	-0.6160	10	0.87932	D	0	.	9.0014	0.36083	0.0:0.7719:0.1484:0.0797	.	612;1570;1602;996	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	H	1570;1561;1602;996;612;1374	ENSP00000354065:R1570H;ENSP00000352258:R1561H;ENSP00000343818:R1602H;ENSP00000400395:R996H;ENSP00000409941:R612H	ENSP00000341695:R1374H	R	-	2	0	CDK5RAP2	122209269	0.997000	0.39634	0.589000	0.28718	0.061000	0.15899	4.354000	0.59417	0.619000	0.30197	0.655000	0.94253	CGC		0.587	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
PSMD5	5711	broad.mit.edu	37	9	123589112	123589112	+	Missense_Mutation	SNP	C	C	A	rs140063358		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123589112C>A	ENST00000210313.3	-	6	819	c.745G>T	c.(745-747)Gta>Tta	p.V249L	PSMD5_ENST00000373904.5_Missense_Mutation_p.V206L|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)		p.V249L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGGTCAATTACTCCTTCTTGA	0.403																																					p.V249L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745T	9						.						102.0	101.0	101.0					9																	123589112		2203	4300	6503	122628933	SO:0001583	missense	5711	exon6			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.745G>T	9.37:g.123589112C>A	ENSP00000210313:p.Val249Leu		122628933	NM_005047	B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324930	0.60634	.	.	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.36699	1.24;1.24	6.03	2.88	0.33553	Armadillo-type fold (1);	0.044717	0.85682	D	0.000000	T	0.31104	0.0786	L	0.54323	1.7	0.38824	D	0.955693	P;P	0.40431	0.537;0.717	B;B	0.44133	0.36;0.442	T	0.16305	-1.0407	10	0.07644	T	0.81	.	7.5763	0.27937	0.0:0.5823:0.0:0.4177	.	206;249	B4DZM8;Q16401	.;PSMD5_HUMAN	L	249;206;20	ENSP00000210313:V249L;ENSP00000363011:V206L	ENSP00000210313:V249L	V	-	1	0	PSMD5	122628933	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.066000	0.30604	0.888000	0.36160	0.655000	0.94253	GTA		0.403	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047	
TRAF1	7185	broad.mit.edu	37	9	123685996	123685996	+	Missense_Mutation	SNP	C	C	T	rs200495625		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123685996C>T	ENST00000373887.3	-	3	2660	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.R72Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	72					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R72Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CTCCTGAGTTCGAAGACGGCT	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		22334	0.0		0.001	False		,,,				2504	0.0				p.R72Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	9						.						188.0	161.0	170.0					9																	123685996		2203	4300	6503	122725817	SO:0001583	missense	7185	exon4			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.215G>A	9.37:g.123685996C>T	ENSP00000362994:p.Arg72Gln		122725817	NM_001190945	B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	CCDS6825.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.154	0.026924	0.08054	.	.	ENSG00000056558	ENST00000373887;ENST00000540010	T;T	0.31769	1.48;1.48	4.53	0.599	0.17519	.	1.312490	0.05308	N	0.524171	T	0.15176	0.0366	N	0.08118	0	0.09310	N	0.999998	B	0.21688	0.059	B	0.15052	0.012	T	0.25293	-1.0136	10	0.22706	T	0.39	-0.0128	5.9452	0.19215	0.415:0.4392:0.0:0.1457	.	72	Q13077	TRAF1_HUMAN	Q	72	ENSP00000362994:R72Q;ENSP00000443183:R72Q	ENSP00000362994:R72Q	R	-	2	0	TRAF1	122725817	0.072000	0.21174	0.268000	0.24571	0.092000	0.18411	0.512000	0.22755	-0.007000	0.14345	-0.274000	0.10170	CGA		0.527	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658	
C5	727	broad.mit.edu	37	9	123753543	123753543	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123753543C>T	ENST00000223642.1	-	23	2896	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	956					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.R956Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GAACTCCTTTCGTCTGCTAAT	0.333																																					p.R956Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2867A	9						.						122.0	124.0	124.0					9																	123753543		2203	4300	6503	122793364	SO:0001583	missense	727	exon23			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.2867G>A	9.37:g.123753543C>T	ENSP00000223642:p.Arg956Gln		122793364	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736862	0.49045	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.31510	1.49	5.7	2.68	0.31781	.	3.841640	0.00748	N	0.001054	T	0.26195	0.0639	L	0.49126	1.545	0.26348	N	0.977259	P	0.36438	0.553	B	0.16289	0.015	T	0.25847	-1.0120	10	0.31617	T	0.26	.	8.1511	0.31141	0.0:0.7267:0.0:0.2733	.	956	P01031	CO5_HUMAN	Q	956;1027	ENSP00000223642:R956Q	ENSP00000223642:R956Q	R	-	2	0	C5	122793364	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.779000	0.26746	0.662000	0.31006	0.655000	0.94253	CGA		0.333	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
C5	727	broad.mit.edu	37	9	123792687	123792687	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123792687G>T	ENST00000223642.1	-	7	775	c.746C>A	c.(745-747)aCt>aAt	p.T249N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	249					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.T249N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGCTTTTATAGTAATTTCAAA	0.284																																					p.T249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746A	9						.						14.0	15.0	15.0					9																	123792687		2104	4072	6176	122832508	SO:0001583	missense	727	exon7			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.746C>A	9.37:g.123792687G>T	ENSP00000223642:p.Thr249Asn		122832508	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799162	0.50208	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.35048	1.33	5.75	5.75	0.90469	.	0.225469	0.43919	D	0.000519	T	0.46889	0.1416	L	0.41124	1.26	0.48452	D	0.999653	D;P	0.69078	0.997;0.481	P;B	0.59424	0.857;0.284	T	0.10636	-1.0621	10	0.16896	T	0.51	.	18.516	0.90936	0.0:0.0:1.0:0.0	.	320;249	Q59GS8;P01031	.;CO5_HUMAN	N	249;320	ENSP00000223642:T249N	ENSP00000223642:T249N	T	-	2	0	C5	122832508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.489000	0.60309	2.725000	0.93324	0.655000	0.94253	ACT		0.284	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
CNTRL	11064	broad.mit.edu	37	9	123920109	123920109	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123920109G>T	ENST00000373855.1	+	29	4848	c.4588G>T	c.(4588-4590)Gac>Tac	p.D1530Y	CNTRL_ENST00000373844.1_5'Flank|CNTRL_ENST00000373850.1_Missense_Mutation_p.D978Y|CNTRL_ENST00000238341.5_Missense_Mutation_p.D1530Y|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373847.1_Missense_Mutation_p.D978Y			Q7Z7A1	CNTRL_HUMAN	centriolin	1530					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.D1530Y(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCAGCAAAAGACTCAGACTT	0.418																																					p.D1530Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4588T	9						.						102.0	106.0	104.0					9																	123920109		2203	4300	6503	122959930	SO:0001583	missense	11064	exon27			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4588G>T	9.37:g.123920109G>T	ENSP00000362962:p.Asp1530Tyr		122959930	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870465	0.72065	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;T	0.78246	0.75;0.75;0.75;0.75;-1.16	5.81	4.91	0.64330	.	.	.	.	.	D	0.85957	0.5818	M	0.63843	1.955	0.48395	D	0.999643	D	0.89917	1.0	D	0.87578	0.998	D	0.87347	0.2335	9	0.87932	D	0	.	14.0836	0.64942	0.0719:0.0:0.9281:0.0	.	1530	Q7Z7A1	CNTRL_HUMAN	Y	1530;1530;1530;286;978;978;199;212	ENSP00000362962:D1530Y;ENSP00000238341:D1530Y;ENSP00000362956:D978Y;ENSP00000362953:D978Y;ENSP00000413014:D199Y	ENSP00000238341:D1530Y	D	+	1	0	CNTRL	122959930	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.825000	0.55730	1.450000	0.47717	0.655000	0.94253	GAC		0.418	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
CNTRL	11064	broad.mit.edu	37	9	123924423	123924423	+	Missense_Mutation	SNP	G	G	A	rs536241829		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123924423G>A	ENST00000373855.1	+	34	5557	c.5297G>A	c.(5296-5298)cGa>cAa	p.R1766Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.R1214Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.R1766Q|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1766					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.R1766Q(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGGATAAACGAGAAATAGAA	0.438																																					p.R1766Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5297A	9						.						91.0	90.0	90.0					9																	123924423		2203	4300	6503	122964244	SO:0001583	missense	11064	exon32			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5297G>A	9.37:g.123924423G>A	ENSP00000362962:p.Arg1766Gln		122964244	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647933	0.29336	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373845	T;T;T	0.29397	1.57;1.57;1.57	5.89	1.8	0.24995	.	.	.	.	.	T	0.17365	0.0417	N	0.25380	0.74	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.28299	-1.0048	9	0.14252	T	0.57	.	6.4503	0.21900	0.2741:0.0:0.5971:0.1288	.	1766	Q7Z7A1	CNTRL_HUMAN	Q	1766;1766;1766;522;1214;448	ENSP00000362962:R1766Q;ENSP00000238341:R1766Q;ENSP00000362956:R1214Q	ENSP00000238341:R1766Q	R	+	2	0	CNTRL	122964244	0.085000	0.21516	0.983000	0.44433	0.755000	0.42902	0.568000	0.23623	0.820000	0.34516	0.563000	0.77884	CGA		0.438	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
CNTRL	11064	broad.mit.edu	37	9	123930425	123930425	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:123930425A>G	ENST00000373855.1	+	38	6156	c.5896A>G	c.(5896-5898)Acc>Gcc	p.T1966A	CNTRL_ENST00000373850.1_Missense_Mutation_p.T1414A|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1966A|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1966	Required for centrosome localization.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.T1966A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CAAATTAGAAACCAGTAAAGT	0.398																																					p.T1966A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5896G	9						.						74.0	74.0	74.0					9																	123930425		2203	4300	6503	122970246	SO:0001583	missense	11064	exon36			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5896A>G	9.37:g.123930425A>G	ENSP00000362962:p.Thr1966Ala		122970246	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	4.007	-0.001405	0.07819	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373845	T;T;T	0.27256	1.99;1.99;1.68	6.07	5.14	0.70334	.	.	.	.	.	T	0.06962	0.0177	N	0.00268	-1.735	0.24219	N	0.995449	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	9	0.08599	T	0.76	.	14.0206	0.64553	0.0734:0.0:0.9266:0.0	.	1966	Q7Z7A1	CNTRL_HUMAN	A	1966;1966;1966;722;1414;648	ENSP00000362962:T1966A;ENSP00000238341:T1966A;ENSP00000362956:T1414A	ENSP00000238341:T1966A	T	+	1	0	CNTRL	122970246	0.982000	0.34865	0.829000	0.32907	0.615000	0.37417	1.539000	0.36104	1.564000	0.49628	-0.177000	0.13119	ACC		0.398	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
STOM	2040	broad.mit.edu	37	9	124103674	124103674	+	Missense_Mutation	SNP	C	C	T	rs201671242		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:124103674C>T	ENST00000286713.2	-	7	690	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	AL161784.1_ENST00000594963.1_Missense_Mutation_p.S17L|STOM_ENST00000538954.1_Missense_Mutation_p.E174K|STOM_ENST00000347359.2_Missense_Mutation_p.E60K	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	225					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)		p.E225K(1)		endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		ATTTCTCCTTCGGCTGCAATA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		19246	0.001		0.0	False		,,,				2504	0.0				p.E225K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	9						.						86.0	84.0	85.0					9																	124103674		2203	4300	6503	123143495	SO:0001583	missense	2040	exon7				CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.673G>A	9.37:g.124103674C>T	ENSP00000286713:p.Glu225Lys		123143495	NM_004099	B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	CCDS6830.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.232370	0.95207	.	.	ENSG00000148175	ENST00000286713;ENST00000538954;ENST00000347359	D;D;D	0.98192	-3.57;-3.57;-4.78	4.89	4.89	0.63831	.	0.108089	0.64402	D	0.000008	D	0.98991	0.9656	H	0.96748	3.875	0.80722	D	1	P;D	0.67145	0.535;0.996	P;P	0.51657	0.54;0.676	D	0.99734	1.1013	10	0.72032	D	0.01	.	17.2181	0.86950	0.0:1.0:0.0:0.0	.	60;225	B1AM77;P27105	.;STOM_HUMAN	K	225;174;60	ENSP00000286713:E225K;ENSP00000445764:E174K;ENSP00000339607:E60K	ENSP00000286713:E225K	E	-	1	0	STOM	123143495	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	7.414000	0.80117	2.540000	0.85666	0.555000	0.69702	GAA		0.522	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099	
OR1J2	26740	broad.mit.edu	37	9	125273092	125273092	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125273092G>T	ENST00000335302.5	+	1	12	c.12G>T	c.(10-12)gaG>gaT	p.E4D		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E4D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGAGCCCTGAGAACCAGAGCA	0.493																																					p.E4D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12T	9						.						133.0	125.0	128.0					9																	125273092		2203	4300	6503	124312913	SO:0001583	missense	26740	exon1				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.12G>T	9.37:g.125273092G>T	ENSP00000335575:p.Glu4Asp		124312913	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	6.952	0.545558	0.13312	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.00466	7.23	4.69	1.56	0.23342	.	0.845163	0.09584	U	0.782447	T	0.00300	0.0009	L	0.28192	0.835	0.22142	N	0.999332	B	0.09022	0.002	B	0.06405	0.002	T	0.35919	-0.9769	10	0.32370	T	0.25	.	4.5823	0.12264	0.0844:0.2797:0.4926:0.1433	.	4	Q8NGS2	OR1J2_HUMAN	D	4	ENSP00000335575:E4D	ENSP00000335575:E4D	E	+	3	2	OR1J2	124312913	0.000000	0.05858	0.891000	0.34965	0.485000	0.33311	-0.751000	0.04803	0.684000	0.31448	0.650000	0.86243	GAG		0.493	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1		
OR1J2	26740	broad.mit.edu	37	9	125273356	125273356	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125273356C>A	ENST00000335302.5	+	1	276	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I92I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAATCGATCCTCTATGAGG	0.408																																					p.I92I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276A	9						.						159.0	135.0	143.0					9																	125273356		2203	4300	6503	124313177	SO:0001819	synonymous_variant	26740	exon1				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.276C>A	9.37:g.125273356C>A			124313177	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	ENST00000335302.5	37	CCDS35121.1																																																																																				0.408	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1		
OR1N2	138882	broad.mit.edu	37	9	125316260	125316260	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125316260C>T	ENST00000373688.2	+	1	870	c.812C>T	c.(811-813)tCt>tTt	p.S271F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S271F(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTCTATGGGTCTCTTATGGGT	0.468																																					p.S271F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812T	9						.						220.0	224.0	223.0					9																	125316260		2203	4300	6503	124356081	SO:0001583	missense	138882	exon1				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.812C>T	9.37:g.125316260C>T	ENSP00000362792:p.Ser271Phe		124356081	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422653	0.43020	.	.	ENSG00000171501	ENST00000373688	T	0.00179	8.61	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.922528	0.08982	N	0.865691	T	0.00384	0.0012	L	0.42744	1.35	0.09310	N	1	D	0.58268	0.982	P	0.62382	0.901	T	0.67991	-0.5527	10	0.87932	D	0	.	12.8615	0.57915	0.0:0.8347:0.1653:0.0	.	271	Q8NGR9	OR1N2_HUMAN	F	271	ENSP00000362792:S271F	ENSP00000362792:S271F	S	+	2	0	OR1N2	124356081	0.003000	0.15002	0.010000	0.14722	0.808000	0.45660	1.889000	0.39718	2.386000	0.81285	0.644000	0.83932	TCT		0.468	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
OR1B1	347169	broad.mit.edu	37	9	125391094	125391094	+	Missense_Mutation	SNP	G	G	A	rs140862378		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125391094G>A	ENST00000304833.3	-	1	758	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R241C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACTGCTCGGCGGCGACCAGCA	0.557																																					p.R241C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C721T	9						.		CYS/ARG	0,4406		0,0,2203	76.0	72.0	74.0		721	0.5	0.1	9	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR1B1	NM_001004450.1	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	241/319	125391094	2,13004	2203	4300	6503	124430915	SO:0001583	missense	347169	exon1			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.721C>T	9.37:g.125391094G>A	ENSP00000303151:p.Arg241Cys		124430915	NM_001004450	Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	g	0.622	-0.820820	0.02755	0.0	2.33E-4	ENSG00000171484	ENST00000304833	T	0.00164	8.64	4.72	0.541	0.17168	GPCR, rhodopsin-like superfamily (1);	1.057800	0.07483	N	0.904295	T	0.00144	0.0004	L	0.33668	1.02	0.09310	N	1	B	0.19935	0.04	B	0.27170	0.077	T	0.05419	-1.0886	10	0.33141	T	0.24	-0.9076	5.6116	0.17408	0.1635:0.0:0.5085:0.328	.	241	Q8NGR6	OR1B1_HUMAN	C	241	ENSP00000303151:R241C	ENSP00000303151:R241C	R	-	1	0	OR1B1	124430915	0.000000	0.05858	0.127000	0.21898	0.092000	0.18411	-0.971000	0.03806	0.298000	0.22638	-0.148000	0.13756	CGC		0.557	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450	
OR1L6	392390	broad.mit.edu	37	9	125512542	125512542	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125512542C>A	ENST00000373684.1	+	1	524	c.524C>A	c.(523-525)cCa>cAa	p.P175Q	OR1L6_ENST00000304720.2_Missense_Mutation_p.P139Q			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P175Q(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GTTATGAAACCACGGCATTGC	0.527																																					p.P139Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C416A	9						.						205.0	160.0	175.0					9																	125512542		2203	4300	6503	124552363	SO:0001583	missense	392390	exon1				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.524C>A	9.37:g.125512542C>A	ENSP00000362788:p.Pro175Gln		124552363	NM_001004453	Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37		.	.	.	.	.	.	.	.	.	.	.	8.196	0.797182	0.16327	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01388	4.95;6.81	4.62	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.395673	0.21267	N	0.077392	T	0.01592	0.0051	N	0.25890	0.77	0.09310	N	1	P	0.48230	0.907	P	0.45276	0.475	T	0.51419	-0.8708	10	0.62326	D	0.03	-4.3392	7.1742	0.25734	0.0:0.6256:0.2808:0.0936	.	175	Q8NGR2	OR1L6_HUMAN	Q	175;139	ENSP00000362788:P175Q;ENSP00000304235:P139Q	ENSP00000304235:P139Q	P	+	2	0	OR1L6	124552363	0.000000	0.05858	0.183000	0.23137	0.142000	0.21351	-0.459000	0.06728	1.298000	0.44778	0.655000	0.94253	CCA		0.527	OR1L6-201	KNOWN	basic	protein_coding	protein_coding			
OR1L6	392390	broad.mit.edu	37	9	125512903	125512903	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125512903C>T	ENST00000373684.1	+	1	885	c.885C>T	c.(883-885)gtC>gtT	p.V295V	OR1L6_ENST00000304720.2_Silent_p.V259V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V295V(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TTATTTATGTCTATTTTAGGC	0.512																																					p.V259V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777T	9						.						109.0	93.0	98.0					9																	125512903		2203	4300	6503	124552724	SO:0001819	synonymous_variant	392390	exon1				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.885C>T	9.37:g.125512903C>T			124552724	NM_001004453	Q6IFM8|Q96R80	Silent	SNP	ENST00000373684.1	37																																																																																					0.512	OR1L6-201	KNOWN	basic	protein_coding	protein_coding			
OR1K1	392392	broad.mit.edu	37	9	125562716	125562716	+	Missense_Mutation	SNP	C	C	A	rs150655492		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125562716C>A	ENST00000277309.2	+	1	347	c.315C>A	c.(313-315)ttC>ttA	p.F105L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105L(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTACTTCTTCTTTGCCCTGG	0.592																																					p.F105L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C315A	9						.						117.0	98.0	104.0					9																	125562716		2203	4300	6503	124602537	SO:0001583	missense	392392	exon1			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.315C>A	9.37:g.125562716C>A	ENSP00000277309:p.Phe105Leu		124602537	NM_080859	B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207823	0.58343	.	.	ENSG00000165204	ENST00000277309	T	0.00309	8.16	4.37	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.185884	0.26163	U	0.025979	T	0.00210	0.0006	L	0.46741	1.465	0.23180	N	0.998169	P	0.40794	0.729	B	0.43194	0.411	T	0.42172	-0.9467	10	0.40728	T	0.16	.	5.928	0.19122	0.0:0.7011:0.0:0.2989	.	105	Q8NGR3	OR1K1_HUMAN	L	105	ENSP00000277309:F105L	ENSP00000277309:F105L	F	+	3	2	OR1K1	124602537	0.000000	0.05858	0.962000	0.40283	0.944000	0.59088	-0.073000	0.11468	1.065000	0.40693	0.655000	0.94253	TTC		0.592	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
OR1K1	392392	broad.mit.edu	37	9	125563049	125563049	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125563049C>T	ENST00000277309.2	+	1	680	c.648C>T	c.(646-648)ctC>ctT	p.L216L		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L216L(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGCTCATCCTCGCCTCCTATG	0.647																																					p.L216L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C648T	9						.						64.0	55.0	58.0					9																	125563049		2203	4300	6503	124602870	SO:0001819	synonymous_variant	392392	exon1			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.648C>T	9.37:g.125563049C>T			124602870	NM_080859	B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	CCDS35132.1																																																																																				0.647	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
RC3H2	54542	broad.mit.edu	37	9	125655189	125655189	+	Splice_Site	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125655189T>G	ENST00000373670.1	-	2	948	c.348A>C	c.(346-348)aaA>aaC	p.K116N	RC3H2_ENST00000471874.2_Splice_Site_p.K116N|RC3H2_ENST00000357244.2_Splice_Site_p.K116N|RC3H2_ENST00000335387.5_Splice_Site_p.K116N|RC3H2_ENST00000373665.2_Splice_Site_p.K116N|RC3H2_ENST00000423239.2_Splice_Site_p.K116N|RC3H2_ENST00000478216.1_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	116					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K116N(2)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAACTTACCTTTACCTCCAC	0.338																																					p.K116N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A348C	9						.						136.0	126.0	129.0					9																	125655189		1873	4099	5972	124695010	SO:0001630	splice_region_variant	54542	exon3			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.349+1A>C	9.37:g.125655189T>G			124695010	NM_018835	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007754	0.75046	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;T;T	0.92911	-3.13;-3.13;-3.13;7.22;7.22	5.72	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	L	0.40543	1.245	0.53005	D	0.999966	B;D;B;D	0.58268	0.0;0.982;0.001;0.969	B;P;B;P	0.52758	0.001;0.514;0.006;0.708	D	0.86120	0.1568	10	0.17369	T	0.5	-1.2415	9.3819	0.38318	0.0:0.1129:0.0:0.8871	.	116;116;116;116	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	N	116	ENSP00000362774:K116N;ENSP00000349783:K116N;ENSP00000411767:K116N;ENSP00000362769:K116N;ENSP00000335150:K116N	ENSP00000335150:K116N	K	-	3	2	RC3H2	124695010	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.964000	0.49192	2.179000	0.69175	0.482000	0.46254	AAA		0.338	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	Missense_Mutation
RC3H2	54542	broad.mit.edu	37	9	125659649	125659649	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125659649C>T	ENST00000373670.1	-	1	740	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	RC3H2_ENST00000471874.2_Missense_Mutation_p.R47Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.R47Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.R47Q|RC3H2_ENST00000373665.2_Missense_Mutation_p.R47Q|RC3H2_ENST00000423239.2_Missense_Mutation_p.R47Q|RC3H2_ENST00000478216.1_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	47					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R47Q(2)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACAAGCTTTTCGATGAAGTTT	0.413																																					p.R47Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G140A	9						.						105.0	101.0	102.0					9																	125659649		1918	4128	6046	124699470	SO:0001583	missense	54542	exon2			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.140G>A	9.37:g.125659649C>T	ENSP00000362774:p.Arg47Gln		124699470	NM_018835	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566327	0.96540	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	6.13	6.13	0.99165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.95124	0.8420	L	0.39326	1.205	0.54753	D	0.999981	D;D;D;D	0.69078	0.979;0.994;0.997;0.997	P;D;P;D	0.69479	0.791;0.921;0.832;0.964	D	0.94328	0.7559	10	0.48119	T	0.1	-21.6384	19.8481	0.96728	0.0:1.0:0.0:0.0	.	47;47;47;47	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	Q	47	ENSP00000362774:R47Q;ENSP00000349783:R47Q;ENSP00000411767:R47Q;ENSP00000362769:R47Q;ENSP00000335150:R47Q	ENSP00000335150:R47Q	R	-	2	0	RC3H2	124699470	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.484000	0.81180	2.937000	0.99478	0.650000	0.86243	CGA		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
ZBTB6	10773	broad.mit.edu	37	9	125674110	125674110	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125674110C>T	ENST00000373659.3	-	2	330	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.G81D(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CAATTTTCTGCCAACTTCTGC	0.398																																					p.G81D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242A	9						.						103.0	106.0	105.0					9																	125674110		2203	4300	6503	124713931	SO:0001583	missense	10773	exon2			X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.242G>A	9.37:g.125674110C>T	ENSP00000362763:p.Gly81Asp		124713931	NM_006626	A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022823	0.75275	.	.	ENSG00000186130	ENST00000373659	T	0.67345	-0.26	6.17	6.17	0.99709	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.83255	-0.0051	10	0.56958	D	0.05	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	81	Q15916	ZBTB6_HUMAN	D	81	ENSP00000362763:G81D	ENSP00000362763:G81D	G	-	2	0	ZBTB6	124713931	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.573000	0.60893	2.941000	0.99782	0.655000	0.94253	GGC		0.398	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626	
RABGAP1	23637	broad.mit.edu	37	9	125772741	125772741	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125772741C>T	ENST00000373647.4	+	11	1617	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	495					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.R495C(1)|p.R423C(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCCTTCAGTTCGCCTGCCACA	0.413																																					p.R495C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1483T	9						.						91.0	82.0	85.0					9																	125772741		2203	4300	6503	124812562	SO:0001583	missense	23637	exon11			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1483C>T	9.37:g.125772741C>T	ENSP00000362751:p.Arg495Cys		124812562	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367980	0.61513	.	.	ENSG00000011454	ENST00000373647	T	0.06768	3.26	5.51	5.51	0.81932	.	0.253672	0.34580	N	0.003845	T	0.10294	0.0252	L	0.38175	1.15	0.80722	D	1	B	0.19200	0.034	B	0.08055	0.003	T	0.08785	-1.0705	10	0.56958	D	0.05	-3.7766	19.4094	0.94662	0.0:1.0:0.0:0.0	.	495	Q9Y3P9	RBGP1_HUMAN	C	495	ENSP00000362751:R495C	ENSP00000362751:R495C	R	+	1	0	RABGAP1	124812562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.359000	0.66074	2.591000	0.87537	0.563000	0.77884	CGC		0.413	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
GPR21	2844	broad.mit.edu	37	9	125796995	125796995	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125796995T>G	ENST00000373642.1	+	1	190	c.150T>G	c.(148-150)atT>atG	p.I50M	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	50					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I50M(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TCATTGTGATTTTTGTATTTC	0.368																																					p.I50M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T150G	9						.						208.0	180.0	190.0					9																	125796995		2203	4300	6503	124836816	SO:0001583	missense	2844	exon1			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.150T>G	9.37:g.125796995T>G	ENSP00000362746:p.Ile50Met		124836816	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210802	0.39102	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.76316	-1.01	5.54	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.80696	0.4672	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.76806	-0.2823	10	0.49607	T	0.09	-11.938	4.1625	0.10291	0.1561:0.3118:0.0:0.5321	.	50	Q99679	GPR21_HUMAN	M	50	ENSP00000362746:I50M	ENSP00000362746:I50M	I	+	3	3	GPR21	124836816	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.511000	0.22739	0.398000	0.25338	0.460000	0.39030	ATT		0.368	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294	
GPR21	2844	broad.mit.edu	37	9	125797263	125797263	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125797263C>A	ENST00000373642.1	+	1	458	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	140					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L140M(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CTATAATACTCTGGTTACACC	0.443																																					p.L140M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C418A	9						.						118.0	113.0	114.0					9																	125797263		2203	4300	6503	124837084	SO:0001583	missense	2844	exon1			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.418C>A	9.37:g.125797263C>A	ENSP00000362746:p.Leu140Met		124837084	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446886	0.43429	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.32272	1.46	5.25	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	U	0.000084	T	0.56077	0.1961	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61312	-0.7088	10	0.51188	T	0.08	-3.8286	11.6655	0.51370	0.0:0.7941:0.1277:0.0782	.	140	Q99679	GPR21_HUMAN	M	140	ENSP00000362746:L140M	ENSP00000362746:L140M	L	+	1	2	GPR21	124837084	1.000000	0.71417	0.977000	0.42913	0.938000	0.57974	4.666000	0.61554	1.204000	0.43247	0.563000	0.77884	CTG		0.443	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294	
STRBP	55342	broad.mit.edu	37	9	125898673	125898673	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125898673C>T	ENST00000348403.5	-	15	2048	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	STRBP_ENST00000360998.3_Missense_Mutation_p.R526H|STRBP_ENST00000447404.2_Missense_Mutation_p.R540H	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	540	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R540H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATTACAAAGCGCTTGTCATG	0.423																																					p.R526H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577A	9						.						122.0	117.0	118.0					9																	125898673		2203	4300	6503	124938494	SO:0001583	missense	55342	exon15			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1619G>A	9.37:g.125898673C>T	ENSP00000321347:p.Arg540His		124938494	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526855	0.85706	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.77229	-1.08;-1.08;-1.08	5.55	4.65	0.58169	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	L	0.46567	1.45	0.80722	D	1	D;D	0.56746	0.977;0.972	P;P	0.52514	0.701;0.674	T	0.81846	-0.0745	10	0.87932	D	0	-4.7944	14.2349	0.65919	0.0:0.9283:0.0:0.0716	.	540;526	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	H	540;540;526	ENSP00000415968:R540H;ENSP00000321347:R540H;ENSP00000354271:R526H	ENSP00000321347:R540H	R	-	2	0	STRBP	124938494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	1.348000	0.45733	0.655000	0.94253	CGC		0.423	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
STRBP	55342	broad.mit.edu	37	9	125941323	125941323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:125941323C>A	ENST00000348403.5	-	4	616	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	STRBP_ENST00000360998.3_Nonsense_Mutation_p.E49*|STRBP_ENST00000447404.2_Nonsense_Mutation_p.E63*	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	63	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.E63*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTCTTCACTTCTGTCTCACCC	0.443																																					p.E49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G145T	9						.						241.0	218.0	226.0					9																	125941323		2203	4300	6503	124981144	SO:0001587	stop_gained	55342	exon4			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.187G>T	9.37:g.125941323C>A	ENSP00000321347:p.Glu63*		124981144	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Nonsense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569183	0.96540	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998;ENST00000479114	.	.	.	5.77	5.77	0.91146	.	0.470183	0.24678	N	0.036497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-11.4446	15.4722	0.75449	0.0:0.8621:0.1379:0.0	.	.	.	.	X	63;63;49;63	.	ENSP00000321347:E63X	E	-	1	0	STRBP	124981144	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	3.103000	0.50298	2.720000	0.93068	0.557000	0.71058	GAA		0.443	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
DENND1A	57706	broad.mit.edu	37	9	126219675	126219675	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:126219675C>A	ENST00000373624.2	-	15	1339	c.1138G>T	c.(1138-1140)Ggt>Tgt	p.G380C	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.G380C|DENND1A_ENST00000394215.2_Missense_Mutation_p.G350C|DENND1A_ENST00000542603.1_Missense_Mutation_p.G122C|DENND1A_ENST00000394219.3_Missense_Mutation_p.G348C|DENND1A_ENST00000373618.1_Missense_Mutation_p.G348C	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	380					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G380C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCACTGAAACCTTCGCCGGAA	0.438																																					p.G380C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1138T	9						.						138.0	132.0	134.0					9																	126219675		2203	4300	6503	125259496	SO:0001583	missense	57706	exon15			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1138G>T	9.37:g.126219675C>A	ENSP00000362727:p.Gly380Cys		125259496	NM_024820	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833921	0.91036	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.33216	3.1;1.42;3.03;3.13;2.99;3.02	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.998;0.999;1.0;0.999;0.995	T	0.70745	-0.4788	10	0.87932	D	0	-14.535	18.6769	0.91531	0.0:1.0:0.0:0.0	.	348;338;348;350;380;380	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;.;DEN1A_HUMAN	C	380;122;348;380;350;348	ENSP00000362727:G380C;ENSP00000437457:G122C;ENSP00000377766:G348C;ENSP00000362722:G380C;ENSP00000377763:G350C;ENSP00000362720:G348C	ENSP00000362720:G348C	G	-	1	0	DENND1A	125259496	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.252000	0.78309	2.706000	0.92434	0.655000	0.94253	GGT		0.438	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
DENND1A	57706	broad.mit.edu	37	9	126220144	126220144	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:126220144G>A	ENST00000373624.2	-	14	1227	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_Silent_p.F342F|DENND1A_ENST00000394215.2_Silent_p.F312F|DENND1A_ENST00000542603.1_Silent_p.F84F|DENND1A_ENST00000394219.3_Silent_p.F310F|DENND1A_ENST00000373618.1_Silent_p.F310F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	342	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.F342F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AGTGGGACACGAAGGCTTCCT	0.592																																					p.F342F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1026T	9						.						52.0	44.0	47.0					9																	126220144		2203	4300	6503	125259965	SO:0001819	synonymous_variant	57706	exon14			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1026C>T	9.37:g.126220144G>A			125259965	NM_024820	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	CCDS35133.1																																																																																				0.592	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
NR6A1	2649	broad.mit.edu	37	9	127302449	127302449	+	Silent	SNP	G	G	A	rs538806855		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:127302449G>A	ENST00000487099.2	-	5	616	c.459C>T	c.(457-459)atC>atT	p.I153I	NR6A1_ENST00000416460.2_Silent_p.I149I|NR6A1_ENST00000373584.3_Silent_p.I149I|NR6A1_ENST00000344523.4_Silent_p.I153I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	153					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I153I(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGATCCTTTCGATTTCTTCTT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		22807	0.001		0.0	False		,,,				2504	0.0				p.I153I	Esophageal Squamous(192;272 2884 6208 20560)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C459T	9						.						224.0	187.0	199.0					9																	127302449		2203	4300	6503	126342270	SO:0001819	synonymous_variant	2649	exon5			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.459C>T	9.37:g.127302449G>A			126342270	NM_033334	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Silent	SNP	ENST00000487099.2	37	CCDS35137.1																																																																																				0.468	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		
TYRP1	7306	broad.mit.edu	37	9	12704674	12704674	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:12704674C>A	ENST00000388918.5	+	6	1359	c.1230C>A	c.(1228-1230)gtC>gtA	p.V410V	TYRP1_ENST00000381136.2_Silent_p.V120V|TYRP1_ENST00000381137.2_Silent_p.V119V|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	410					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V410V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CAGATGCAGTCTTTGATGAAT	0.428									Oculocutaneous Albinism																												p.V410V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1230A	9						.						126.0	110.0	115.0					9																	12704674		2203	4300	6503	12694674	SO:0001819	synonymous_variant	7306	exon6	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1230C>A	9.37:g.12704674C>A			12694674	NM_000550	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																				0.428	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
SCAI	286205	broad.mit.edu	37	9	127757235	127757235	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:127757235G>A	ENST00000336505.6	-	14	1362	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	SCAI_ENST00000373549.4_Missense_Mutation_p.S458L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	435					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.S458L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ACTATTAGACGAATCCACAAT	0.468																																					p.S458L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1373T	9						.						97.0	94.0	95.0					9																	127757235		1985	4159	6144	126797056	SO:0001583	missense	286205	exon15			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1304C>T	9.37:g.127757235G>A	ENSP00000336756:p.Ser435Leu		126797056	NM_173690	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073949	0.94000	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.63744	-0.06;-0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72982	0.979;0.975	D	0.84932	0.0860	10	0.87932	D	0	-7.367	18.8499	0.92224	0.0:0.0:1.0:0.0	.	435;458	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	L	435;458	ENSP00000336756:S435L;ENSP00000362650:S458L	ENSP00000336756:S435L	S	-	2	0	SCAI	126797056	1.000000	0.71417	0.860000	0.33809	0.702000	0.40608	9.173000	0.94815	2.770000	0.95276	0.563000	0.77884	TCG		0.468	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690	
PPP6C	5537	broad.mit.edu	37	9	127915943	127915943	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:127915943C>T	ENST00000373547.4	-	6	637	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PPP6C_ENST00000373546.3_Missense_Mutation_p.E33K|PPP6C_ENST00000415905.1_Missense_Mutation_p.E158K|PPP6C_ENST00000451402.1_Missense_Mutation_p.E217K	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	180					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E180K(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TGATTCCGTTCGATGGTTCGA	0.423																																					p.E158K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	9						.						89.0	79.0	82.0					9																	127915943		2203	4300	6503	126955764	SO:0001583	missense	5537	exon5			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.538G>A	9.37:g.127915943C>T	ENSP00000362648:p.Glu180Lys		126955764	NM_001123369	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315143	0.81358	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.20610	0.595	0.80722	D	1	B;B;B	0.20550	0.006;0.046;0.015	B;B;B	0.20767	0.008;0.031;0.021	T	0.11690	-1.0577	10	0.72032	D	0.01	-19.3737	18.9632	0.92684	0.0:1.0:0.0:0.0	.	158;217;180	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	K	180;217;158;33	ENSP00000362648:E180K;ENSP00000392147:E217K;ENSP00000411744:E158K;ENSP00000362647:E33K	ENSP00000362647:E33K	E	-	1	0	PPP6C	126955764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	GAA		0.423	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294	
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:128001387C>A	ENST00000324460.6	-	5	1032	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	277					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.D277Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468										Prostate(1;0.17)																											p.D277Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G829T	9						.						79.0	78.0	78.0					9																	128001387		2203	4300	6503	127041208	SO:0001583	missense	3309	exon5				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.829G>T	9.37:g.128001387C>A	ENSP00000324173:p.Asp277Tyr		127041208	NM_005347	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697494	0.68386	.	.	ENSG00000044574	ENST00000324460	T	0.01705	4.68	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.12347	0.0300	H	0.99475	4.585	0.80722	D	1	P	0.44044	0.825	B	0.43728	0.429	T	0.37009	-0.9724	10	0.87932	D	0	-12.4	15.4514	0.75277	0.0:1.0:0.0:0.0	.	277	P11021	GRP78_HUMAN	Y	277	ENSP00000324173:D277Y	ENSP00000324173:D277Y	D	-	1	0	HSPA5	127041208	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.795000	0.85887	1.864000	0.54056	0.462000	0.41574	GAT		0.468	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		
GAPVD1	26130	broad.mit.edu	37	9	128064674	128064674	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:128064674T>C	ENST00000495955.1	+	5	888	c.598T>C	c.(598-600)Tta>Cta	p.L200L	GAPVD1_ENST00000297933.6_Silent_p.L200L|GAPVD1_ENST00000394104.2_Silent_p.L200L|GAPVD1_ENST00000394105.2_Silent_p.L200L|GAPVD1_ENST00000265956.4_Silent_p.L200L|GAPVD1_ENST00000312123.9_Silent_p.L200L|GAPVD1_ENST00000470056.1_Silent_p.L200L|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394084.1_Silent_p.L200L|GAPVD1_ENST00000394083.2_Silent_p.L200L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	200	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L200L(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACAGCCACTTTACATGAGCC	0.418																																					p.L200L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T598C	9						.						63.0	60.0	61.0					9																	128064674		2203	4300	6503	127104495	SO:0001819	synonymous_variant	26130	exon3				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.598T>C	9.37:g.128064674T>C			127104495	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.	.	.	.	.	.	.	.	.	.	T	6.967	0.548457	0.13312	.	.	ENSG00000165219	ENST00000436712	.	.	.	6.03	2.52	0.30459	.	.	.	.	.	T	0.55940	0.1952	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48328	-0.9045	4	.	.	.	.	8.0672	0.30667	0.0:0.2913:0.0:0.7087	.	.	.	.	S	30	.	.	F	+	2	0	GAPVD1	127104495	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	1.745000	0.38278	0.532000	0.28657	-0.274000	0.10170	TTT		0.418	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
GAPVD1	26130	broad.mit.edu	37	9	128088850	128088850	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:128088850C>T	ENST00000495955.1	+	12	2304	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	GAPVD1_ENST00000297933.6_Missense_Mutation_p.R672C|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R672C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R672C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R672C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R651C|GAPVD1_ENST00000470056.1_Missense_Mutation_p.R672C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R651C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	672					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.R672C(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGATGAAGATCGCTTGCAAGA	0.428																																					p.R672C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2014T	9						.						186.0	171.0	176.0					9																	128088850		2203	4300	6503	127128671	SO:0001583	missense	26130	exon10				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2014C>T	9.37:g.128088850C>T	ENSP00000419063:p.Arg672Cys		127128671	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846935|4.846935	0.91277|0.91277	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	T;T;T;T;T;T;T;T;T|.	0.14893|.	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61527|0.61527	0.2354|0.2354	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.81914|.	0.992;0.982;0.988;0.988;0.988;0.995|.	T|T	0.57447|0.57447	-0.7810|-0.7810	10|5	0.72032|.	D|.	0.01|.	.|.	17.568|17.568	0.87926|0.87926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;672;672;651;672;672|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	C|L	672;672;672;672;651;672;672;672;651|508	ENSP00000419767:R672C;ENSP00000377665:R672C;ENSP00000377664:R672C;ENSP00000265956:R672C;ENSP00000377645:R651C;ENSP00000419063:R672C;ENSP00000418747:R672C;ENSP00000297933:R672C;ENSP00000309582:R651C|.	ENSP00000265956:R672C|.	R|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127128671|127128671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.469000|3.469000	0.53093|0.53093	2.402000|2.402000	0.81655|0.81655	0.491000|0.491000	0.48974|0.48974	CGC|TCG		0.428	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
GAPVD1	26130	broad.mit.edu	37	9	128097501	128097501	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:128097501G>T	ENST00000495955.1	+	16	2718				GAPVD1_ENST00000297933.6_Intron|GAPVD1_ENST00000394104.2_Intron|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.E827*|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000312123.9_Intron|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000394083.2_Intron			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E827*(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						cattgaagcagaagcagacat	0.333																																					p.E827X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2479T	9						.						57.0	56.0	56.0					9																	128097501		2203	4300	6503	127137322	SO:0001627	intron_variant	26130	exon14				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2429-1796G>T	9.37:g.128097501G>T			127137322	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	ENST00000495955.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.184120	0.97357	.	.	ENSG00000165219	ENST00000394105	.	.	.	0.564	0.564	0.17302	.	.	.	.	.	.	.	.	.	.	.	0.27742	N	0.944446	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	827	.	ENSP00000377665:E827X	E	+	1	0	GAPVD1	127137322	0.381000	0.25140	0.421000	0.26609	0.699000	0.40488	-0.047000	0.11963	0.556000	0.29098	0.195000	0.17529	GAA		0.333	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
MVB12B	89853	broad.mit.edu	37	9	129157901	129157901	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:129157901G>T	ENST00000361171.3	+	6	668	c.587G>T	c.(586-588)aGa>aTa	p.R196I	MVB12B_ENST00000545391.1_Missense_Mutation_p.R196I|MVB12B_ENST00000436593.3_Missense_Mutation_p.R181I|MVB12B_ENST00000535766.1_Missense_Mutation_p.R189I	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	196					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)	p.R196I(1)									AGAGTACCAAGAAATCATGAC	0.517																																					p.R196I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587T	9						.						200.0	173.0	182.0					9																	129157901		2203	4300	6503	128197722	SO:0001583	missense	89853	exon6			AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.587G>T	9.37:g.129157901G>T	ENSP00000354772:p.Arg196Ile		128197722	NM_001011703	Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910183	0.72983	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593;ENST00000535766	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.69	5.69	0.88448	.	0.052934	0.85682	D	0.000000	T	0.63920	0.2552	M	0.62723	1.935	0.80722	D	1	D;B;D;D	0.76494	0.999;0.288;0.999;0.996	D;B;D;P	0.75020	0.985;0.241;0.985;0.898	T	0.61564	-0.7037	10	0.48119	T	0.1	-1.7583	19.8045	0.96525	0.0:0.0:1.0:0.0	.	189;181;65;196	B7Z4X0;B7Z1P9;Q9H7N7;Q9H7P6	.;.;.;F125B_HUMAN	I	196;196;181;181;189	ENSP00000354772:R196I;ENSP00000441988:R196I;ENSP00000384751:R181I;ENSP00000401379:R181I;ENSP00000442846:R189I	ENSP00000354772:R196I	R	+	2	0	FAM125B	128197722	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.153000	0.77428	2.676000	0.91093	0.655000	0.94253	AGA		0.517	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	
ZBTB43	23099	broad.mit.edu	37	9	129595886	129595886	+	Missense_Mutation	SNP	C	C	A	rs376108916		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:129595886C>A	ENST00000373464.4	+	3	1362	c.1098C>A	c.(1096-1098)ttC>ttA	p.F366L	ZBTB43_ENST00000373457.1_Missense_Mutation_p.F366L|ZBTB43_ENST00000449886.1_Missense_Mutation_p.F366L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	366					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.F366L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACTTAGGATTCTCAGCCACTG	0.483																																					p.F366L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1098A	9						.						73.0	73.0	73.0					9																	129595886		2203	4300	6503	128635707	SO:0001583	missense	23099	exon2			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1098C>A	9.37:g.129595886C>A	ENSP00000362563:p.Phe366Leu		128635707	NM_001135776	Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518674	0.44763	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.13901	2.55;2.55;2.55	5.64	0.604	0.17547	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.29908	0.895	0.34401	D	0.695319	B	0.32409	0.37	B	0.35607	0.206	T	0.33033	-0.9884	10	0.15952	T	0.53	.	11.05	0.47880	0.0:0.6154:0.0:0.3846	.	366	O43298	ZBT43_HUMAN	L	366	ENSP00000390344:F366L;ENSP00000362563:F366L;ENSP00000362556:F366L	ENSP00000362556:F366L	F	+	3	2	ZBTB43	128635707	0.969000	0.33509	0.996000	0.52242	0.971000	0.66376	0.057000	0.14279	0.134000	0.18681	-0.258000	0.10820	TTC		0.483	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776	
ZBTB34	403341	broad.mit.edu	37	9	129642585	129642585	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:129642585T>G	ENST00000373452.2	+	1	959	c.895T>G	c.(895-897)Ttt>Gtt	p.F299V	ZBTB34_ENST00000319119.4_Missense_Mutation_p.F303V			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	299					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.F303V(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ATCAGAAGCTTTTGGAAGTTT	0.542																																					p.F299V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T895G	9						.						56.0	59.0	58.0					9																	129642585		2008	4207	6215	128682406	SO:0001583	missense	403341	exon2			DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.895T>G	9.37:g.129642585T>G	ENSP00000362551:p.Phe299Val		128682406	NM_001099270	Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.592683	0.66219	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.08546	3.08;3.09	5.78	5.78	0.91487	.	0.159187	0.44902	D	0.000420	T	0.06872	0.0175	L	0.29908	0.895	0.58432	D	0.999992	B	0.30068	0.267	B	0.22386	0.039	T	0.35101	-0.9802	10	0.11485	T	0.65	.	16.1095	0.81250	0.0:0.0:0.0:1.0	.	299	Q8NCN2	ZBT34_HUMAN	V	303;299	ENSP00000317534:F303V;ENSP00000362551:F299V	ENSP00000317534:F303V	F	+	1	0	ZBTB34	128682406	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.430000	0.80321	2.205000	0.71048	0.533000	0.62120	TTT		0.542	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270	
RALGPS1	9649	broad.mit.edu	37	9	129831541	129831541	+	Missense_Mutation	SNP	G	G	T	rs375120770		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:129831541G>T	ENST00000259351.5	+	8	783	c.516G>T	c.(514-516)gaG>gaT	p.E172D	RALGPS1_ENST00000373436.1_Missense_Mutation_p.E172D|RALGPS1_ENST00000373434.1_Missense_Mutation_p.E172D|RALGPS1_ENST00000424082.2_Missense_Mutation_p.E172D|RALGPS1_ENST00000394022.3_Missense_Mutation_p.E172D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	172	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E172D(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CTACCTTTGAGAAATTGGACT	0.373																																					p.E172D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G516T	9						.						91.0	91.0	91.0					9																	129831541		2203	4300	6503	128871362	SO:0001583	missense	9649	exon8			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.516G>T	9.37:g.129831541G>T	ENSP00000259351:p.Glu172Asp		128871362	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445877	0.25987	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.34	4.43	0.53597	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.33093	0.98	0.58432	D	0.999991	B;B;B;B	0.27951	0.006;0.009;0.195;0.034	B;B;B;B	0.22880	0.024;0.021;0.035;0.042	T	0.03750	-1.1007	10	0.18276	T	0.48	.	12.2273	0.54468	0.1364:0.0:0.8636:0.0	.	172;172;172;172	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	D	172;172;172;172;142;172;172	ENSP00000259351:E172D;ENSP00000415630:E172D;ENSP00000377590:E172D;ENSP00000317149:E142D;ENSP00000362535:E172D;ENSP00000362533:E172D	ENSP00000259351:E172D	E	+	3	2	RALGPS1	128871362	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.276000	0.51646	2.684000	0.91462	0.637000	0.83480	GAG		0.373	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	
ZNF79	7633	broad.mit.edu	37	9	130206519	130206519	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:130206519G>T	ENST00000342483.5	+	5	946	c.540G>T	c.(538-540)aaG>aaT	p.K180N	ZNF79_ENST00000543471.1_Missense_Mutation_p.K156N	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	180					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.K180N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGAGCTTCAAGAACTCGGAAA	0.478																																					p.K180N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G540T	9						.						107.0	102.0	104.0					9																	130206519		2203	4300	6503	129246340	SO:0001583	missense	7633	exon5			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.540G>T	9.37:g.130206519G>T	ENSP00000362446:p.Lys180Asn		129246340	NM_007135	Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817780	0.32145	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.06528	3.29;3.29	4.01	0.00856	0.14075	.	.	.	.	.	T	0.02807	0.0084	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46610	-0.9179	9	0.25106	T	0.35	.	0.7442	0.00979	0.2968:0.1643:0.3707:0.1682	.	180	Q15937	ZNF79_HUMAN	N	180;156	ENSP00000362446:K180N;ENSP00000438418:K156N	ENSP00000362446:K180N	K	+	3	2	ZNF79	129246340	0.016000	0.18221	0.000000	0.03702	0.584000	0.36387	0.724000	0.25954	-0.189000	0.10482	0.655000	0.94253	AAG		0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135	
SH2D3C	10044	broad.mit.edu	37	9	130509431	130509431	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:130509431C>A	ENST00000314830.8	-	6	1372	c.1259G>T	c.(1258-1260)aGc>aTc	p.S420I	SH2D3C_ENST00000373277.4_Missense_Mutation_p.S263I|SH2D3C_ENST00000420366.1_Missense_Mutation_p.S262I|SH2D3C_ENST00000373274.3_Missense_Mutation_p.S260I|SH2D3C_ENST00000373276.3_Missense_Mutation_p.S352I|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.S66I	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	420					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.S420I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATACCAGTGCTGTAGGCAGG	0.577																																					p.S66I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197T	9						.						95.0	93.0	94.0					9																	130509431		2203	4300	6503	129549252	SO:0001583	missense	10044	exon5			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1259G>T	9.37:g.130509431C>A	ENSP00000317817:p.Ser420Ile		129549252	NM_001142532	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	CCDS6877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.775011|4.775011	0.90108|0.90108	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000440630|ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.|T;T;T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62;0.62;0.62	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.152755	.|0.64402	.|D	.|0.000001	T|T	0.67401|0.67401	0.2889|0.2889	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|P;P;D;D;D	.|0.89917	.|0.92;0.954;0.999;1.0;0.996	.|P;P;D;D;P	.|0.85130	.|0.468;0.622;0.994;0.997;0.865	T|T	0.66544|0.66544	-0.5897|-0.5897	5|10	.|0.48119	.|T	.|0.1	-22.8567|-22.8567	18.3472|18.3472	0.90326|0.90326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|260;420;352;263;262	.|E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.|.;SH2D3_HUMAN;.;.;.	S|I	257|263;262;352;260;66;420	.|ENSP00000362374:S263I;ENSP00000388536:S262I;ENSP00000362373:S352I;ENSP00000362371:S260I;ENSP00000394632:S66I;ENSP00000317817:S420I	.|ENSP00000317817:S420I	A|S	-|-	1|2	0|0	SH2D3C|SH2D3C	129549252|129549252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	7.372000|7.372000	0.79612|0.79612	2.584000|2.584000	0.87258|0.87258	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.577	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	
ST6GALNAC4	27090	broad.mit.edu	37	9	130674552	130674552	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:130674552C>A	ENST00000335791.5	-	4	881	c.606G>T	c.(604-606)aaG>aaT	p.K202N	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.K118N	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	202					cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)	p.K202N(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTCACCGGTTCTTGCCCGTCT	0.637																																					p.K202N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G606T	9						.						38.0	36.0	36.0					9																	130674552		2203	4299	6502	129714373	SO:0001583	missense	27090	exon4			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.606G>T	9.37:g.130674552C>A	ENSP00000336733:p.Lys202Asn		129714373	NM_175039	Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	Missense_Mutation	SNP	ENST00000335791.5	37	CCDS6883.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736010	0.69189	.	.	ENSG00000136840	ENST00000541933;ENST00000335791;ENST00000343609;ENST00000361444	T;T;T	0.35789	1.29;1.37;1.37	5.05	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.86651	2.83	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.68743	-0.5328	10	0.52906	T	0.07	-35.2396	12.7783	0.57461	0.0:0.9207:0.0:0.0793	.	202	Q9H4F1	SIA7D_HUMAN	N	118;202;118;118	ENSP00000336733:K202N;ENSP00000340382:K118N;ENSP00000355130:K118N	ENSP00000336733:K202N	K	-	3	2	ST6GALNAC4	129714373	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.889000	0.39718	1.360000	0.45960	0.462000	0.41574	AAG		0.637	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054317.2	NM_175040	
CIZ1	25792	broad.mit.edu	37	9	130931780	130931780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:130931780G>A	ENST00000393608.1	-	13	2252	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	CIZ1_ENST00000372948.3_Nonsense_Mutation_p.R628*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.R655*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.R583*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.R684*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.R656*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.R604*|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.R656*|CIZ1_ENST00000538431.1_Nonsense_Mutation_p.R710*	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	684					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R684*(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGAAGGGTCGCAAGGATTGT	0.567																																					p.R628X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C1882T	9						.						106.0	96.0	100.0					9																	130931780		2203	4300	6503	129971601	SO:0001587	stop_gained	25792	exon14			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2050C>T	9.37:g.130931780G>A	ENSP00000377232:p.Arg684*		129971601	NM_001131015	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Nonsense_Mutation	SNP	ENST00000393608.1	37	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	40	8.351770	0.98772	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	.	.	.	5.34	2.01	0.26516	.	0.000000	0.38548	N	0.001650	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3476	14.4788	0.67564	0.0:0.0:0.4026:0.5974	.	.	.	.	X	604;684;710;656;655;623;583;656;628;684;606	.	.	R	-	1	2	CIZ1	129971601	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	1.560000	0.36331	0.148000	0.19059	0.462000	0.41574	CGA		0.567	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127	
DNM1	1759	broad.mit.edu	37	9	131001759	131001759	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131001759G>T	ENST00000372923.3	+	12	1550	c.1458G>T	c.(1456-1458)atG>atT	p.M486I	DNM1_ENST00000341179.7_Missense_Mutation_p.M486I|DNM1_ENST00000475805.1_Missense_Mutation_p.M486I|DNM1_ENST00000393594.3_Missense_Mutation_p.M486I|DNM1_ENST00000486160.1_Missense_Mutation_p.M486I	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	486					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.M486I(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGGCTTACATGAACACCAACC	0.493																																					p.M486I	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1458T	9						.						352.0	344.0	347.0					9																	131001759		2203	4300	6503	130041580	SO:0001583	missense	1759	exon12			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1458G>T	9.37:g.131001759G>T	ENSP00000362014:p.Met486Ile		130041580	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243424	0.22796	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	4.8	4.8	0.61643	Dynamin central domain (1);Pleckstrin homology-type (1);	0.043207	0.85682	D	0.000000	T	0.32734	0.0839	N	0.01493	-0.835	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.42015	-0.9476	10	0.02654	T	1	-0.327	18.4066	0.90538	0.0:0.0:1.0:0.0	.	486;486;486	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	I	486;486;486;481;486;486;31	ENSP00000419225:M486I;ENSP00000345680:M486I;ENSP00000362014:M486I;ENSP00000377219:M486I;ENSP00000420045:M486I	ENSP00000345680:M486I	M	+	3	0	DNM1	130041580	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.062000	0.64326	2.653000	0.90120	0.563000	0.77884	ATG		0.493	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
ODF2	4957	broad.mit.edu	37	9	131233697	131233697	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131233697G>A	ENST00000434106.3	+	6	894	c.531G>A	c.(529-531)acG>acA	p.T177T	ODF2_ENST00000372814.3_Silent_p.T221T|ODF2_ENST00000448249.3_Silent_p.T96T|ODF2_ENST00000546203.1_Silent_p.T158T|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000351030.3_Silent_p.T172T|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Silent_p.T158T|ODF2_ENST00000372807.5_Silent_p.T172T|ODF2_ENST00000393527.3_Silent_p.T153T|ODF2_ENST00000393533.2_Silent_p.T177T|ODF2_ENST00000604420.1_Silent_p.T177T|ODF2_ENST00000444119.2_Silent_p.T153T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	177					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.T153T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACGAGAACACGGTGTTGAGGC	0.567																																					p.T202T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G606A	9						.						189.0	162.0	171.0					9																	131233697		2203	4300	6503	130273518	SO:0001819	synonymous_variant	4957	exon5			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.531G>A	9.37:g.131233697G>A			130273518	NM_153439	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																				0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
SPTAN1	6709	broad.mit.edu	37	9	131329190	131329190	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131329190G>T	ENST00000372731.4	+	2	281	c.171G>T	c.(169-171)gaG>gaT	p.E57D	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E57D|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E57D	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	57					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E57D(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGAGCTGGAGAAATGGATAC	0.443																																					p.E57D	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	9						.						68.0	69.0	68.0					9																	131329190		2203	4300	6503	130369011	SO:0001583	missense	6709	exon2			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.171G>T	9.37:g.131329190G>T	ENSP00000361816:p.Glu57Asp		130369011	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162363	0.57368	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.54866	0.55;0.55;0.55	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.79614	2.46	0.51482	D	0.999924	P;P;P;B;D	0.54772	0.916;0.945;0.616;0.06;0.968	P;D;B;B;D	0.63793	0.892;0.918;0.341;0.122;0.91	T	0.64219	-0.6459	10	0.29301	T	0.29	.	11.1296	0.48339	0.1319:0.0:0.8681:0.0	.	57;57;57;57;57	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	D	57	ENSP00000350882:E57D;ENSP00000361816:E57D;ENSP00000361824:E57D	ENSP00000350882:E57D	E	+	3	2	SPTAN1	130369011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.476000	0.45171	2.742000	0.94016	0.655000	0.94253	GAG		0.443	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
SPTAN1	6709	broad.mit.edu	37	9	131374463	131374463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131374463G>T	ENST00000372731.4	+	38	5076	c.4966G>T	c.(4966-4968)Gaa>Taa	p.E1656*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1661*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1661*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1656					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E1656*(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAAACTGAAAGAAGCCAACAA	0.522																																					p.E1636X	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4906T	9						.						130.0	128.0	129.0					9																	131374463		2203	4300	6503	130414284	SO:0001587	stop_gained	6709	exon37			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4966G>T	9.37:g.131374463G>T	ENSP00000361816:p.Glu1656*		130414284	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	47	12.990343	0.99711	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	.	.	.	X	1661;1656;1661;1636	.	ENSP00000350882:E1661X	E	+	1	0	SPTAN1	130414284	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.420000	0.97426	2.665000	0.90641	0.655000	0.94253	GAA		0.522	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
SPTAN1	6709	broad.mit.edu	37	9	131379971	131379971	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131379971G>A	ENST00000372731.4	+	41	5505	c.5395G>A	c.(5395-5397)Gtg>Atg	p.V1799M	SPTAN1_ENST00000372739.3_Missense_Mutation_p.V1804M|SPTAN1_ENST00000358161.5_Missense_Mutation_p.V1804M	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1799					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V1799M(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTAACCGGCGTGCAGAACCT	0.602																																					p.V1779M	NSCLC(120;833 1744 2558 35612 37579)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5335A	9						.						58.0	61.0	60.0					9																	131379971		2203	4300	6503	130419792	SO:0001583	missense	6709	exon40			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5395G>A	9.37:g.131379971G>A	ENSP00000361816:p.Val1799Met		130419792	NM_001195532	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468867	0.63625	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.57436	0.4;0.4;0.4	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.83022	0.5164	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.989;0.988;0.993	D	0.88194	0.2879	10	0.87932	D	0	.	19.9559	0.97218	0.0:0.0:1.0:0.0	.	1779;1804;1799	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	M	1804;1799;1804;1779;48	ENSP00000350882:V1804M;ENSP00000361816:V1799M;ENSP00000361824:V1804M	ENSP00000350882:V1804M	V	+	1	0	SPTAN1	130419792	1.000000	0.71417	0.231000	0.23993	0.094000	0.18550	9.385000	0.97223	2.728000	0.93425	0.462000	0.41574	GTG		0.602	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
MPDZ	8777	broad.mit.edu	37	9	13107075	13107075	+	Silent	SNP	G	G	A	rs200049739	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:13107075G>A	ENST00000319217.7	-	47	6349	c.6102C>T	c.(6100-6102)ggC>ggT	p.G2034G	MPDZ_ENST00000541718.1_Silent_p.G2005G|MPDZ_ENST00000541093.1_Silent_p.G268G|MPDZ_ENST00000536827.1_Silent_p.G1972G|MPDZ_ENST00000546205.1_Silent_p.G2048G|MPDZ_ENST00000381015.4_Silent_p.G2034G|MPDZ_ENST00000381022.2_Silent_p.G2005G|MPDZ_ENST00000538841.1_Silent_p.G893G|MPDZ_ENST00000447879.1_Silent_p.G2001G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2034	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.G2006G(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)		TGATCTGATCGCCCCTTTTCA	0.448													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0				p.G2005G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6015T	9						.	G		11,3913		0,11,1951	183.0	177.0	179.0		6015	-7.1	1.0	9		179	0,8286		0,0,4143	no	coding-synonymous	MPDZ	NM_003829.3		0,11,6094	AA,AG,GG		0.0,0.2803,0.0901		2005/2042	13107075	11,12199	1962	4143	6105	13097075	SO:0001819	synonymous_variant	8777	exon45			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.6102C>T	9.37:g.13107075G>A			13097075	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																					0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
MPDZ	8777	broad.mit.edu	37	9	13126572	13126572	+	Silent	SNP	G	G	A	rs367937602		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:13126572G>A	ENST00000319217.7	-	34	4822	c.4575C>T	c.(4573-4575)gtC>gtT	p.V1525V	MPDZ_ENST00000541718.1_Silent_p.V1525V|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000536827.1_Silent_p.V1492V|MPDZ_ENST00000546205.1_Silent_p.V1539V|MPDZ_ENST00000381015.4_Silent_p.V1525V|MPDZ_ENST00000381022.2_Silent_p.V1525V|MPDZ_ENST00000538841.1_Silent_p.V384V|MPDZ_ENST00000447879.1_Silent_p.V1492V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1525	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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.V1525V(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)		TCTGATCTCCGACTTTGAGTC	0.368																																					p.V1525V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4575T	9						.	G		0,3732		0,0,1866	70.0	66.0	67.0		4575	3.9	1.0	9		67	1,8175		0,1,4087	no	coding-synonymous	MPDZ	NM_003829.3		0,1,5953	AA,AG,GG		0.0122,0.0,0.0084		1525/2042	13126572	1,11907	1866	4088	5954	13116572	SO:0001819	synonymous_variant	8777	exon33			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.4575C>T	9.37:g.13126572G>A			13116572	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																					0.368	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
NUP188	23511	broad.mit.edu	37	9	131767474	131767474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:131767474C>T	ENST00000372577.2	+	39	4504	c.4483C>T	c.(4483-4485)Cga>Tga	p.R1495*	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1495					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.R1495*(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGCACAGTCGAAAGATGCT	0.522																																					p.R1495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4483T	9						.						168.0	138.0	148.0					9																	131767474		2203	4300	6503	130807295	SO:0001587	stop_gained	23511	exon39			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4483C>T	9.37:g.131767474C>T	ENSP00000361658:p.Arg1495*		130807295	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	42	9.756793	0.99256	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.23	5.23	0.72850	.	0.186621	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-22.8091	17.8008	0.88586	0.0:1.0:0.0:0.0	.	.	.	.	X	1384;1495	.	ENSP00000349125:R1384X	R	+	1	2	NUP188	130807295	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.764000	0.68826	2.446000	0.82766	0.561000	0.74099	CGA		0.522	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
ASB6	140459	broad.mit.edu	37	9	132400297	132400297	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132400297G>A	ENST00000277458.4	-	6	1203	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Silent_p.F267F|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	346					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.F346F(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGTGGATATCGAAGTTTTCGG	0.597																																					p.F346F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C1038T	9						.						79.0	75.0	76.0					9																	132400297		2203	4300	6503	131440118	SO:0001819	synonymous_variant	140459	exon6				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1038C>T	9.37:g.132400297G>A			131440118	NM_017873	Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	CCDS6924.1																																																																																				0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873	
TOR1A	1861	broad.mit.edu	37	9	132581178	132581178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132581178G>A	ENST00000351698.4	-	3	514	c.466C>T	c.(466-468)Cga>Tga	p.R156*	TOR1A_ENST00000473084.1_5'Flank	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	156	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)	p.R156*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACGTTGCCTCGAATCCACAAC	0.468																																					p.R156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C466T	9						.						72.0	63.0	66.0					9																	132581178		2203	4300	6503	131620999	SO:0001587	stop_gained	1861	exon3			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.466C>T	9.37:g.132581178G>A	ENSP00000345719:p.Arg156*		131620999	NM_000113	B2RB58|Q53Y64|Q96CA0	Nonsense_Mutation	SNP	ENST00000351698.4	37	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	G	37	6.143447	0.97320	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	.	.	.	5.91	5.91	0.95273	.	0.197627	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9644	14.1594	0.65436	0.0:0.0:0.8505:0.1495	.	.	.	.	X	125;156	.	ENSP00000345719:R156X	R	-	1	2	TOR1A	131620999	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	3.164000	0.50770	2.793000	0.96121	0.655000	0.94253	CGA		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113	
USP20	10868	broad.mit.edu	37	9	132620356	132620356	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132620356G>T	ENST00000315480.4	+	5	321	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	USP20_ENST00000358355.1_Nonsense_Mutation_p.E55*|USP20_ENST00000372429.3_Nonsense_Mutation_p.E55*			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	55					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E55*(3)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGGCTGCGGAGAATCCTTTGC	0.562																																					p.E55X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G163T	9						.						163.0	167.0	166.0					9																	132620356		2093	4214	6307	131660177	SO:0001587	stop_gained	10868	exon5			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.163G>T	9.37:g.132620356G>T	ENSP00000313811:p.Glu55*		131660177	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Nonsense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792594	0.90453	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.561	0.87908	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000313811:E55X	E	+	1	0	USP20	131660177	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	9.544000	0.98092	2.374000	0.81015	0.561000	0.74099	GAA		0.562	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
USP20	10868	broad.mit.edu	37	9	132630302	132630302	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132630302C>T	ENST00000315480.4	+	11	867	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	USP20_ENST00000358355.1_Missense_Mutation_p.R237C|USP20_ENST00000372429.3_Missense_Mutation_p.R237C			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	237	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R237C(3)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGAGTTCCTTCGCTGCCTGAT	0.637																																					p.R237C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C709T	9						.						40.0	45.0	44.0					9																	132630302		2107	4233	6340	131670123	SO:0001583	missense	10868	exon11			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.709C>T	9.37:g.132630302C>T	ENSP00000313811:p.Arg237Cys		131670123	NM_001008563	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108004	0.77096	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.32272	1.46;1.46;1.46	5.18	4.28	0.50868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.046636	0.85682	N	0.000000	T	0.51346	0.1669	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52902	-0.8513	10	0.72032	D	0.01	.	9.4508	0.38725	0.142:0.7813:0.0:0.0767	.	237	Q9Y2K6	UBP20_HUMAN	C	237	ENSP00000361506:R237C;ENSP00000313811:R237C;ENSP00000351122:R237C	ENSP00000313811:R237C	R	+	1	0	USP20	131670123	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.879000	0.63100	1.173000	0.42796	0.561000	0.74099	CGC		0.637	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2		
MPDZ	8777	broad.mit.edu	37	9	13186340	13186340	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:13186340G>T	ENST00000319217.7	-	18	2657	c.2410C>A	c.(2410-2412)Ctc>Atc	p.L804I	MPDZ_ENST00000541718.1_Missense_Mutation_p.L804I|MPDZ_ENST00000536827.1_Missense_Mutation_p.L804I|MPDZ_ENST00000546205.1_Missense_Mutation_p.L804I|MPDZ_ENST00000381015.4_Missense_Mutation_p.L804I|MPDZ_ENST00000381022.2_Missense_Mutation_p.L804I|MPDZ_ENST00000447879.1_Missense_Mutation_p.L804I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	804					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.L804I(2)		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)		GGTGGGTAGAGAAAGGAATCC	0.463																																					p.L804I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2410A	9						.						46.0	47.0	47.0					9																	13186340		1892	4114	6006	13176340	SO:0001583	missense	8777	exon17			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.2410C>A	9.37:g.13186340G>T	ENSP00000320006:p.Leu804Ile		13176340	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	5.629	0.300822	0.10678	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.10668	2.9;2.85;2.85;2.85;2.89;2.9;2.9	5.24	0.332	0.15938	.	0.386473	0.18025	N	0.154109	T	0.05686	0.0149	N	0.19112	0.55	0.80722	D	1	P;P;P	0.39424	0.544;0.673;0.673	B;B;B	0.36464	0.113;0.165;0.225	T	0.49021	-0.8982	10	0.21540	T	0.41	.	8.0033	0.30310	0.6213:0.0:0.3787:0.0	.	804;804;804	B7ZMI4;O75970-3;O75970-2	.;.;.	I	804;804;804;804;804;804;754;804	ENSP00000320006:L804I;ENSP00000439807:L804I;ENSP00000370410:L804I;ENSP00000444151:L804I;ENSP00000415208:L804I;ENSP00000370403:L804I;ENSP00000446358:L804I	ENSP00000320006:L804I	L	-	1	0	MPDZ	13176340	1.000000	0.71417	0.853000	0.33588	0.180000	0.23129	2.480000	0.45206	0.161000	0.19458	-0.806000	0.03193	CTC		0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
FNBP1	23048	broad.mit.edu	37	9	132720794	132720794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132720794C>A	ENST00000446176.2	-	5	570	c.384G>T	c.(382-384)gaG>gaT	p.E128D	FNBP1_ENST00000355681.3_Missense_Mutation_p.E128D|FNBP1_ENST00000420781.1_Missense_Mutation_p.E128D	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	128	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.E128D(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCCAGCAAGTCTCGATGTGCT	0.443			T	MLL	AML																																p.E128D			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	9						.						70.0	68.0	69.0					9																	132720794		1913	4136	6049	131760615	SO:0001583	missense	23048	exon5			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.384G>T	9.37:g.132720794C>A	ENSP00000413625:p.Glu128Asp		131760615	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.06|10.06	1.246955|1.246955	0.22796|0.22796	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	T;T;T|.	0.17213|.	2.29;2.29;2.29|.	5.58|5.58	2.31|2.31	0.28768|0.28768	.|.	0.103647|.	0.64402|.	D|.	0.000002|.	T|T	0.49779|0.49779	0.1577|0.1577	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;P;B;B;D;B;B|.	0.61697|.	0.023;0.954;0.0;0.015;0.99;0.038;0.029|.	B;D;B;B;D;B;B|.	0.70227|.	0.018;0.921;0.001;0.023;0.968;0.028;0.029|.	T|T	0.33292|0.33292	-0.9874|-0.9874	10|5	0.24483|.	T|.	0.36|.	-37.9734|-37.9734	7.5571|7.5571	0.27831|0.27831	0.0:0.6324:0.0:0.3675|0.0:0.6324:0.0:0.3675	.|.	128;128;128;128;89;128;128|.	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;FNBP1_HUMAN|.	D|I	128|90	ENSP00000413625:E128D;ENSP00000407548:E128D;ENSP00000347907:E128D|.	ENSP00000347907:E128D|.	E|R	-|-	3|2	2|0	FNBP1|FNBP1	131760615|131760615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.819000|0.819000	0.46315|0.46315	0.742000|0.742000	0.26216|0.26216	0.699000|0.699000	0.31761|0.31761	0.491000|0.491000	0.48974|0.48974	GAG|AGA		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		
ASS1	445	broad.mit.edu	37	9	133355131	133355131	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133355131G>T	ENST00000372394.1	+	11	1198	c.717G>T	c.(715-717)aaG>aaT	p.K239N	ASS1_ENST00000352480.5_Missense_Mutation_p.K239N|ASS1_ENST00000493984.2_Intron|ASS1_ENST00000372393.3_Missense_Mutation_p.K239N			P00966	ASSY_HUMAN	argininosuccinate synthase 1	239					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)	p.K239N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCAACGTCAAGGATGGCACCA	0.647																																					p.K239N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G717T	9						.						78.0	70.0	73.0					9																	133355131		2203	4300	6503	132344952	SO:0001583	missense	445	exon11			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.717G>T	9.37:g.133355131G>T	ENSP00000361471:p.Lys239Asn		132344952	NM_000050	Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	8.960	0.970365	0.18659	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	D;D;D	0.99136	-5.47;-5.47;-5.47	4.91	1.47	0.22746	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.316553	0.32386	U	0.006170	D	0.97018	0.9026	L	0.51422	1.61	0.32211	N	0.57656	B;B;B;B;B	0.11235	0.001;0.004;0.004;0.001;0.001	B;B;B;B;B	0.15870	0.003;0.014;0.014;0.003;0.003	D	0.96402	0.9297	10	0.62326	D	0.03	.	10.1936	0.43041	0.2743:0.0:0.7257:0.0	.	239;122;122;239;239	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	N	239	ENSP00000253004:K239N;ENSP00000361471:K239N;ENSP00000361469:K239N	ENSP00000361470:K239N	K	+	3	2	ASS1	132344952	0.992000	0.36948	0.998000	0.56505	0.903000	0.53119	0.382000	0.20635	0.461000	0.27071	0.467000	0.42956	AAG		0.647	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	
PRDM12	59335	broad.mit.edu	37	9	133543638	133543638	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133543638G>A	ENST00000253008.2	+	3	568	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	170	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E170K(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TGCACGTAACGAACAGGAGCA	0.562																																					p.E170K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	9						.						218.0	160.0	180.0					9																	133543638		2203	4300	6503	132533459	SO:0001583	missense	59335	exon3			AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.508G>A	9.37:g.133543638G>A	ENSP00000253008:p.Glu170Lys		132533459	NM_021619	A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560151	0.65538	.	.	ENSG00000130711	ENST00000253008	T	0.40476	1.03	5.21	5.21	0.72293	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.31371	0.925	0.58432	D	0.999999	D	0.69078	0.997	D	0.65233	0.933	T	0.25152	-1.0140	10	0.08599	T	0.76	-28.7162	17.7439	0.88414	0.0:0.0:1.0:0.0	.	170	Q9H4Q4	PRD12_HUMAN	K	170	ENSP00000253008:E170K	ENSP00000253008:E170K	E	+	1	0	PRDM12	132533459	1.000000	0.71417	0.646000	0.29493	0.803000	0.45373	9.238000	0.95380	2.423000	0.82170	0.655000	0.94253	GAA		0.562	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
EXOSC2	23404	broad.mit.edu	37	9	133578479	133578479	+	Missense_Mutation	SNP	C	C	T	rs561877923		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133578479C>T	ENST00000372358.5	+	8	783	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	EXOSC2_ENST00000546165.1_Missense_Mutation_p.R212W|EXOSC2_ENST00000467138.1_3'UTR|EXOSC2_ENST00000372351.3_Missense_Mutation_p.R208W|EXOSC2_ENST00000372352.3_Missense_Mutation_p.R230W			Q13868	EXOS2_HUMAN	exosome component 2	238					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)	p.R238W(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		ATCCCGGCTTCGGAACTGCAT	0.502																																					p.R238W	Pancreas(134;1683 1824 10118 27928 31640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712T	9						.						152.0	136.0	142.0					9																	133578479		2203	4300	6503	132568300	SO:0001583	missense	23404	exon8			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.712C>T	9.37:g.133578479C>T	ENSP00000361433:p.Arg238Trp		132568300	NM_014285	A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	ENST00000372358.5	37	CCDS6935.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736711	0.69304	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000495699	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.91561	3.22	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.87469	0.2413	9	0.87932	D	0	-25.8006	13.3613	0.60657	0.1573:0.8427:0.0:0.0	.	212;238	B4DKK6;Q13868	.;EXOS2_HUMAN	W	238;212;230;208;215	.	ENSP00000361426:R208W	R	+	1	2	EXOSC2	132568300	0.999000	0.42202	1.000000	0.80357	0.598000	0.36846	3.960000	0.56752	2.648000	0.89879	0.650000	0.86243	CGG		0.502	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285	
ABL1	25	broad.mit.edu	37	9	133729569	133729569	+	Silent	SNP	C	C	T	rs372724991		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133729569C>T	ENST00000318560.5	+	2	579	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.F66F(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAACCTTTTCGTTGCACTGT	0.478			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.F66F			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C198T	9						.	C	,	0,4406		0,0,2203	133.0	131.0	132.0		198,255	-11.2	0.1	9		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABL1	NM_005157.4,NM_007313.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	66/1131,85/1150	133729569	1,13005	2203	4300	6503	132719390	SO:0001819	synonymous_variant	25	exon2			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.198C>T	9.37:g.133729569C>T			132719390	NM_005157	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.478	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
LAMC3	10319	broad.mit.edu	37	9	133921035	133921035	+	Missense_Mutation	SNP	G	G	A	rs200393760		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133921035G>A	ENST00000361069.4	+	8	1640	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	503	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.D503N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCCTCAGCGATTTCCACCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18699	0.001		0.0	False		,,,				2504	0.0				p.D503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507A	9						.						83.0	72.0	76.0					9																	133921035		2203	4300	6503	132910856	SO:0001583	missense	10319	exon8			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1507G>A	9.37:g.133921035G>A	ENSP00000354360:p.Asp503Asn		132910856	NM_006059	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.692	1.152172	0.21371	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.28895	1.59	4.53	2.69	0.31865	.	0.207319	0.49305	D	0.000144	T	0.26702	0.0653	M	0.65975	2.015	0.29291	N	0.869379	B	0.25272	0.122	B	0.17098	0.017	T	0.15521	-1.0434	10	0.32370	T	0.25	.	6.3777	0.21517	0.3019:0.0:0.6981:0.0	.	503	Q9Y6N6	LAMC3_HUMAN	N	503	ENSP00000354360:D503N	ENSP00000347156:D503N	D	+	1	0	LAMC3	132910856	0.126000	0.22350	0.178000	0.23040	0.027000	0.11550	0.453000	0.21811	0.541000	0.28827	0.555000	0.69702	GAT		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
LAMC3	10319	broad.mit.edu	37	9	133946984	133946984	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:133946984C>T	ENST00000361069.4	+	18	3316	c.3183C>T	c.(3181-3183)gaC>gaT	p.D1061D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1061	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.D1061D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAAGGGGGGACGTCTACCAGG	0.657																																					p.D1061D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3183T	9						.						45.0	45.0	45.0					9																	133946984		2203	4300	6503	132936805	SO:0001819	synonymous_variant	10319	exon18			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3183C>T	9.37:g.133946984C>T			132936805	NM_006059	B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	CCDS6938.1																																																																																				0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
NUP214	8021	broad.mit.edu	37	9	134025762	134025762	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134025762G>T	ENST00000359428.5	+	15	2236	c.2092G>T	c.(2092-2094)Gat>Tat	p.D698Y	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.D688Y|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.D699Y			P35658	NU214_HUMAN	nucleoporin 214kDa	698	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.D698Y(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCAGTGGAAAGATTCAGATCC	0.443			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.D698Y	Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2092T	9						.						108.0	104.0	105.0					9																	134025762		2203	4300	6503	133015583	SO:0001583	missense	8021	exon15			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2092G>T	9.37:g.134025762G>T	ENSP00000352400:p.Asp698Tyr		133015583	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068722	0.93950	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.48201	0.97;0.97;0.82	6.16	6.16	0.99307	.	0.489601	0.17090	N	0.187424	T	0.50786	0.1636	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.66497	0.944;0.912;0.912	T	0.59461	-0.7450	10	0.87932	D	0	-7.7808	18.0158	0.89239	0.0:0.0:1.0:0.0	.	292;688;698	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	Y	698;688;699;687;292;127	ENSP00000352400:D698Y;ENSP00000396576:D688Y;ENSP00000405014:D699Y	ENSP00000352400:D698Y	D	+	1	0	NUP214	133015583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.714000	0.91412	2.937000	0.99478	0.650000	0.86243	GAT		0.443	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
NUP214	8021	broad.mit.edu	37	9	134077036	134077036	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134077036T>A	ENST00000359428.5	+	30	5668	c.5524T>A	c.(5524-5526)Ttt>Att	p.F1842I	NUP214_ENST00000411637.2_Missense_Mutation_p.F1832I|NUP214_ENST00000483497.2_Missense_Mutation_p.F668I|NUP214_ENST00000451030.1_Missense_Mutation_p.F1843I			P35658	NU214_HUMAN	nucleoporin 214kDa	1842	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.F1842I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTTACAGGTTTTGGGTCTAG	0.358			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.F1842I	Pancreas(4;24 48 25510 30394 32571)		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5524A	9						.						178.0	163.0	168.0					9																	134077036		2203	4300	6503	133066857	SO:0001583	missense	8021	exon30			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5524T>A	9.37:g.134077036T>A	ENSP00000352400:p.Phe1842Ile		133066857	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805310	0.90623	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497	T;T;T;T	0.57273	1.16;1.17;1.17;0.41	5.81	5.81	0.92471	.	0.163922	0.29165	N	0.012950	T	0.51244	0.1663	N	0.08118	0	0.53005	D	0.999961	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	D;D;D;D	0.77557	0.99;0.99;0.99;0.99	T	0.51284	-0.8725	10	0.15499	T	0.54	-16.7512	15.3601	0.74464	0.0:0.0:0.0:1.0	.	668;1436;1832;1842	B7ZAV2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	I	1842;1832;1843;1821;1436;1271;668	ENSP00000352400:F1842I;ENSP00000396576:F1832I;ENSP00000405014:F1843I;ENSP00000436793:F668I	ENSP00000352400:F1842I	F	+	1	0	NUP214	133066857	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.454000	0.66651	2.225000	0.72522	0.455000	0.32223	TTT		0.358	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
FAM78A	286336	broad.mit.edu	37	9	134136326	134136326	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134136326C>A	ENST00000372271.3	-	2	1102	c.735G>T	c.(733-735)aaG>aaT	p.K245N	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.K242N	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	245								p.K245N(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGGCTCATTCTTGCTCAGGA	0.677																																					p.K245N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G735T	9						.						86.0	91.0	89.0					9																	134136326		2203	4300	6503	133126147	SO:0001583	missense	286336	exon2			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.735G>T	9.37:g.134136326C>A	ENSP00000361345:p.Lys245Asn		133126147	NM_033387	Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440643	0.43326	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.94497	-3.44;-3.44;-3.44	4.75	2.87	0.33458	.	0.088221	0.85682	D	0.000000	D	0.87589	0.6215	L	0.27053	0.805	0.58432	D	0.999994	B;B	0.25441	0.002;0.126	B;B	0.19946	0.002;0.027	T	0.82139	-0.0605	10	0.34782	T	0.22	-35.0377	7.518	0.27612	0.0:0.7362:0.0:0.2638	.	245;242	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	N	242;245;214	ENSP00000361343:K242N;ENSP00000361345:K245N;ENSP00000419959:K214N	ENSP00000361343:K242N	K	-	3	2	FAM78A	133126147	0.993000	0.37304	1.000000	0.80357	0.732000	0.41865	0.468000	0.22051	1.110000	0.41699	0.462000	0.41574	AAG		0.677	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387	
PRRC2B	84726	broad.mit.edu	37	9	134321983	134321983	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134321983G>A	ENST00000357304.4	+	6	864	c.809G>A	c.(808-810)gGa>gAa	p.G270E	PRRC2B_ENST00000458550.1_Missense_Mutation_p.G270E|PRRC2B_ENST00000405995.1_Missense_Mutation_p.G270E|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	270							poly(A) RNA binding (GO:0044822)	p.G270E(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGTTCATGGGAAATGTATAC	0.527																																					p.G270E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G809A	9						.						100.0	95.0	96.0					9																	134321983		1926	4130	6056	133311804	SO:0001583	missense	84726	exon6			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.809G>A	9.37:g.134321983G>A	ENSP00000349856:p.Gly270Glu		133311804	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280987	0.80692	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.02421	4.3;4.62;4.3	5.09	5.09	0.68999	.	0.426067	0.16545	U	0.209732	T	0.12220	0.0297	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.04991	-1.0913	10	0.33141	T	0.24	-8.0917	18.0312	0.89285	0.0:0.0:1.0:0.0	.	270	Q5JSZ5	PRC2B_HUMAN	E	270	ENSP00000384606:G270E;ENSP00000349856:G270E;ENSP00000398853:G270E	ENSP00000349856:G270E	G	+	2	0	PRRC2B	133311804	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.348000	0.73009	2.804000	0.96469	0.655000	0.94253	GGA		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRRC2B	84726	broad.mit.edu	37	9	134350976	134350976	+	Missense_Mutation	SNP	G	G	A	rs200008435	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134350976G>A	ENST00000357304.4	+	15	3515	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1154							poly(A) RNA binding (GO:0044822)	p.E1154K(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGGGGCTCCGAGAACGGGAA	0.617													G|||	5	0.000998403	0.0038	0.0	5008	,	,		15115	0.0		0.0	False		,,,				2504	0.0				p.E1154K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3460A	9						.	G	LYS/GLU	16,3844		0,16,1914	17.0	20.0	19.0		3460	5.7	0.1	9		19	0,8282		0,0,4141	yes	missense	PRRC2B	NM_013318.3	56	0,16,6055	AA,AG,GG		0.0,0.4145,0.1318	benign	1154/2230	134350976	16,12126	1930	4141	6071	133340797	SO:0001583	missense	84726	exon15			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3460G>A	9.37:g.134350976G>A	ENSP00000349856:p.Glu1154Lys		133340797	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	19.13	3.767668	0.69878	0.004145	0.0	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.27104	1.69	5.69	5.69	0.88448	.	.	.	.	.	T	0.36771	0.0979	M	0.69823	2.125	0.80722	D	1	D;P	0.65815	0.995;0.826	P;B	0.54431	0.752;0.137	T	0.14587	-1.0467	8	.	.	.	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	450;1154	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	K	1154;450	ENSP00000349856:E1154K	.	E	+	1	0	PRRC2B	133340797	1.000000	0.71417	0.081000	0.20488	0.917000	0.54804	9.451000	0.97610	2.687000	0.91594	0.462000	0.41574	GAG		0.617	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRRC2B	84726	broad.mit.edu	37	9	134353960	134353960	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134353960G>A	ENST00000357304.4	+	17	4767	c.4712G>A	c.(4711-4713)cGc>cAc	p.R1571H	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R877H|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R877H|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1571							poly(A) RNA binding (GO:0044822)	p.R1571H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AAGAAGCAGCGCCGCCTGCTG	0.637											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1571H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4712A	9						.						67.0	74.0	72.0					9																	134353960		1880	4109	5989	133343781	SO:0001583	missense	84726	exon17			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4712G>A	9.37:g.134353960G>A	ENSP00000349856:p.Arg1571His	1610	133343781	NM_013318	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908653	0.92107	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.03124	4.04;4.3;4.04	5.42	5.42	0.78866	.	0.000000	0.42682	U	0.000676	T	0.15219	0.0367	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.00134	-1.2009	10	0.72032	D	0.01	-44.0546	18.2062	0.89855	0.0:0.0:1.0:0.0	.	304;1571	Q5JSZ8;Q5JSZ5	.;PRC2B_HUMAN	H	877;1571;877	ENSP00000384606:R877H;ENSP00000349856:R1571H;ENSP00000398853:R877H	ENSP00000349856:R1571H	R	+	2	0	PRRC2B	133343781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.655000	0.67981	2.549000	0.85964	0.561000	0.74099	CGC		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
UCK1	83549	broad.mit.edu	37	9	134404928	134404928	+	Silent	SNP	G	G	A	rs370115943		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134404928G>A	ENST00000372215.4	-	3	405	c.312C>T	c.(310-312)atC>atT	p.I104I	UCK1_ENST00000372210.3_Silent_p.I95I|UCK1_ENST00000372211.3_Silent_p.I109I|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372208.3_Silent_p.I104I	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	104					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)	p.I104I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		TGCCCTCCACGATGTTCTTCA	0.547																																					p.I104I	Melanoma(42;523 1129 28385 43975 48113)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	9						.	G	,	2,4404	4.2+/-10.8	0,2,2201	283.0	234.0	250.0		312,312	-8.5	0.1	9		250	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UCK1	NM_001135954.1,NM_031432.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	104/202,104/278	134404928	2,13004	2203	4300	6503	133394749	SO:0001819	synonymous_variant	83549	exon3			AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.312C>T	9.37:g.134404928G>A			133394749	NM_031432	Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Silent	SNP	ENST00000372215.4	37	CCDS6944.1																																																																																				0.547	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432	
RAPGEF1	2889	broad.mit.edu	37	9	134465302	134465302	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134465302G>A	ENST00000372189.3	-	16	2403	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	RAPGEF1_ENST00000372195.1_Silent_p.F777F|RAPGEF1_ENST00000372190.3_Silent_p.F778F	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	760	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.F778F(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTACCAGCACGAAGAACGTGT	0.557																																					p.F778F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	9						.						115.0	124.0	121.0					9																	134465302		2059	4187	6246	133455123	SO:0001819	synonymous_variant	2889	exon16			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2280C>T	9.37:g.134465302G>A			133455123	NM_198679	Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724584	0.15439	.	.	ENSG00000107263	ENST00000414781	.	.	.	5.57	-0.49	0.12049	.	.	.	.	.	T	0.55561	0.1928	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49011	-0.8983	4	.	.	.	.	9.479	0.38889	0.5325:0.0:0.4675:0.0	.	.	.	.	C	188	.	.	R	-	1	0	RAPGEF1	133455123	0.158000	0.22850	0.995000	0.50966	0.664000	0.39144	-0.322000	0.08007	-0.148000	0.11234	-0.258000	0.10820	CGT		0.557	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
RAPGEF1	2889	broad.mit.edu	37	9	134501371	134501371	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134501371G>A	ENST00000372189.3	-	10	1712	c.1589C>T	c.(1588-1590)gCt>gTt	p.A530V	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.A547V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A548V|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	530					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.A548V(1)|p.A225V(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGACTCAGGAGCAGTAAAATC	0.512																																					p.A548V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1643T	9						.						99.0	99.0	99.0					9																	134501371		1957	4134	6091	133491192	SO:0001583	missense	2889	exon10			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1589C>T	9.37:g.134501371G>A	ENSP00000361263:p.Ala530Val		133491192	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126075	0.37533	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.28666	1.61;1.6;1.6	5.17	0.56	0.17279	.	0.364959	0.30959	N	0.008524	T	0.18257	0.0438	L	0.27053	0.805	0.36514	D	0.869749	B;B;B	0.11235	0.004;0.001;0.002	B;B;B	0.15484	0.006;0.006;0.013	T	0.16988	-1.0384	10	0.19147	T	0.46	.	10.5419	0.45037	0.2362:0.0:0.7638:0.0	.	547;530;548	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	V	530;547;424;530;548;510;456;225;547	ENSP00000361269:A547V;ENSP00000361263:A530V;ENSP00000361264:A548V	ENSP00000266110:A530V	A	-	2	0	RAPGEF1	133491192	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	2.388000	0.44398	0.118000	0.18165	0.655000	0.94253	GCT		0.512	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
RAPGEF1	2889	broad.mit.edu	37	9	134526251	134526251	+	Missense_Mutation	SNP	C	C	A	rs374143304		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134526251C>A	ENST00000372189.3	-	2	219	c.96G>T	c.(94-96)aaG>aaT	p.K32N	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.K49N|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.K50N	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	32					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.K50N(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTTTTCCCTTCTTTGATGGCG	0.473																																					p.K50N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G150T	9						.	C	ASN/LYS,ASN/LYS	0,3872		0,0,1936	268.0	249.0	255.0		96,150	4.7	1.0	9		255	1,8281		0,1,4140	no	missense,missense	RAPGEF1	NM_005312.2,NM_198679.1	94,94	0,1,6076	AA,AC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging	32/1078,50/1096	134526251	1,12153	1936	4141	6077	133516072	SO:0001583	missense	2889	exon2			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.96G>T	9.37:g.134526251C>A	ENSP00000361263:p.Lys32Asn		133516072	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435012	0.43224	0.0	1.21E-4	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T	0.51071	0.81;0.88;0.72;1.16	5.61	4.71	0.59529	.	1.310530	0.04485	N	0.378517	T	0.66597	0.2805	L	0.50333	1.59	0.52501	D	0.999957	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.939;0.939;0.973	T	0.37244	-0.9714	10	0.45353	T	0.12	.	13.3816	0.60770	0.0:0.925:0.0:0.075	.	49;32;50	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	N	32;49;32;50;50;49;49;50	ENSP00000361269:K49N;ENSP00000361263:K32N;ENSP00000361264:K50N;ENSP00000410640:K49N	ENSP00000266110:K32N	K	-	3	2	RAPGEF1	133516072	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.029000	0.49712	1.367000	0.46095	0.655000	0.94253	AAG		0.473	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
MED27	9442	broad.mit.edu	37	9	134955096	134955096	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:134955096C>T	ENST00000292035.5	-	1	199	c.136G>A	c.(136-138)Gag>Aag	p.E46K	RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000474263.1_Missense_Mutation_p.E46K|MED27_ENST00000357028.2_Missense_Mutation_p.E46K	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	46					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.E46K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TCCCGGCCCTCCAGCGTCTCC	0.617																																					p.E46K	Colon(41;784 923 6932 42329 52483)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G136A	9						.						72.0	74.0	74.0					9																	134955096		2203	4300	6503	133944917	SO:0001583	missense	9442	exon1			AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.136G>A	9.37:g.134955096C>T	ENSP00000292035:p.Glu46Lys		133944917	NM_004269	O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214502	0.95104	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.67397	2.05	0.80722	D	1	D;D;D	0.56035	0.969;0.974;0.97	P;D;P	0.67725	0.723;0.953;0.665	T	0.78816	-0.2055	9	0.62326	D	0.03	-15.6889	18.591	0.91212	0.0:1.0:0.0:0.0	.	46;46;46	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	K	46;8;46	.	ENSP00000292035:E46K	E	-	1	0	MED27	133944917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	2.625000	0.88918	0.650000	0.86243	GAG		0.617	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269	
SETX	23064	broad.mit.edu	37	9	135172396	135172396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135172396C>A	ENST00000224140.5	-	14	6009	c.5827G>T	c.(5827-5829)Gaa>Taa	p.E1943*	SETX_ENST00000372169.2_Nonsense_Mutation_p.E1943*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E1943*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1943					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1943*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TATGCAGTTTCTATTGCTTTC	0.353																																					p.E1943X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5827T	9						.						151.0	123.0	132.0					9																	135172396		2203	4300	6503	134162217	SO:0001587	stop_gained	23064	exon14			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5827G>T	9.37:g.135172396C>A	ENSP00000224140:p.Glu1943*		134162217	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	48	14.291482	0.99788	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	.	.	.	5.53	5.53	0.82687	.	0.059603	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.0171	0.89245	0.0:1.0:0.0:0.0	.	.	.	.	X	1943;185;1943;1943	.	ENSP00000224140:E1943X	E	-	1	0	SETX	134162217	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.237000	0.51344	2.601000	0.87937	0.563000	0.77884	GAA		0.353	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135203235	135203235	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135203235T>G	ENST00000224140.5	-	10	3932	c.3750A>C	c.(3748-3750)aaA>aaC	p.K1250N	SETX_ENST00000372169.2_Missense_Mutation_p.K1250N|SETX_ENST00000393220.1_Missense_Mutation_p.K1250N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1250					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.K1250N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGTCCTTTTTTGGCATCTG	0.403																																					p.K1250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3750C	9						.						117.0	111.0	113.0					9																	135203235		2203	4300	6503	134193056	SO:0001583	missense	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3750A>C	9.37:g.135203235T>G	ENSP00000224140:p.Lys1250Asn		134193056	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049528	0.36181	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87029	-2.11;-2.2;-1.82	5.8	2.01	0.26516	.	0.751984	0.12234	N	0.487183	T	0.81088	0.4750	L	0.57536	1.79	0.09310	N	1	B;B;B	0.20052	0.041;0.024;0.041	B;B;B	0.20955	0.032;0.008;0.032	T	0.68021	-0.5519	10	0.39692	T	0.17	.	1.9031	0.03272	0.1317:0.1509:0.1364:0.581	.	1250;1250;1250	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	N	1250	ENSP00000224140:K1250N;ENSP00000361242:K1250N;ENSP00000376913:K1250N	ENSP00000224140:K1250N	K	-	3	2	SETX	134193056	0.000000	0.05858	0.781000	0.31783	0.358000	0.29455	-0.021000	0.12504	0.466000	0.27193	0.528000	0.53228	AAA		0.403	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
SETX	23064	broad.mit.edu	37	9	135204031	135204031	+	Missense_Mutation	SNP	G	G	A	rs557074957	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135204031G>A	ENST00000224140.5	-	10	3136	c.2954C>T	c.(2953-2955)tCg>tTg	p.S985L	SETX_ENST00000372169.2_Missense_Mutation_p.S985L|SETX_ENST00000393220.1_Missense_Mutation_p.S985L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	985					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S985L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTGCAGCTGCGATGAGTTCTG	0.388													G|||	4	0.000798722	0.0	0.0	5008	,	,		21550	0.001		0.0	False		,,,				2504	0.0031				p.S985L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2954T	9						.						132.0	130.0	131.0					9																	135204031		2203	4300	6503	134193852	SO:0001583	missense	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2954C>T	9.37:g.135204031G>A	ENSP00000224140:p.Ser985Leu		134193852	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788218	0.16258	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.12;-2.21;-1.83	5.63	-1.29	0.09288	.	108.267000	0.00166	N	0.000000	T	0.74921	0.3780	L	0.29908	0.895	0.09310	N	1	P;B;P	0.38280	0.625;0.342;0.625	B;B;B	0.28305	0.088;0.028;0.088	T	0.64984	-0.6278	10	0.30078	T	0.28	.	2.7683	0.05327	0.3619:0.1096:0.4171:0.1114	.	985;985;985	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	985	ENSP00000224140:S985L;ENSP00000361242:S985L;ENSP00000376913:S985L	ENSP00000224140:S985L	S	-	2	0	SETX	134193852	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.256000	0.08757	-0.111000	0.12001	0.655000	0.94253	TCG		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
TTF1	7270	broad.mit.edu	37	9	135271843	135271843	+	Silent	SNP	G	G	A	rs371348195		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135271843G>A	ENST00000334270.2	-	5	1872	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	611					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F611F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGTTGACATCGAACATCTTCT	0.388																																					p.F611F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1833T	9						.	G	,	0,4406		0,0,2203	129.0	115.0	120.0		288,1833	-4.1	1.0	9		120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TTF1	NM_001205296.1,NM_007344.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	96/391,611/906	135271843	2,13004	2203	4300	6503	134261664	SO:0001819	synonymous_variant	7270	exon5			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1833C>T	9.37:g.135271843G>A			134261664	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	CCDS6948.1																																																																																				0.388	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344	
TTF1	7270	broad.mit.edu	37	9	135277656	135277656	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135277656C>T	ENST00000334270.2	-	2	592	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	185	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D185N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCAGGGTGTCCCTTGCCCGC	0.493																																					p.D185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553A	9						.						52.0	49.0	50.0					9																	135277656		2203	4299	6502	134267477	SO:0001583	missense	7270	exon2			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.553G>A	9.37:g.135277656C>T	ENSP00000333920:p.Asp185Asn		134267477	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097377	0.56075	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10382	2.88	4.43	-8.25	0.01025	.	3.513710	0.00987	N	0.003474	T	0.06690	0.0171	L	0.36672	1.1	0.09310	N	1	B	0.27316	0.175	B	0.24394	0.053	T	0.26018	-1.0115	10	0.28530	T	0.3	.	2.2973	0.04153	0.1051:0.2357:0.3762:0.283	.	185	Q15361	TTF1_HUMAN	N	185	ENSP00000333920:D185N	ENSP00000245588:D185N	D	-	1	0	TTF1	134267477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.519000	0.02243	-1.113000	0.02981	-0.136000	0.14681	GAC		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344	
DDX31	64794	broad.mit.edu	37	9	135521323	135521323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135521323G>A	ENST00000372159.3	-	13	1805	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	DDX31_ENST00000438527.3_Nonsense_Mutation_p.R423*|DDX31_ENST00000310532.2_Nonsense_Mutation_p.R552*|DDX31_ENST00000372153.1_Nonsense_Mutation_p.R552*	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	552	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R552*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AATTTTAATCGCATGGAGGCA	0.612																																					p.R552X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1654T	9						.						36.0	36.0	36.0					9																	135521323		2203	4300	6503	134511144	SO:0001587	stop_gained	64794	exon13			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1654C>T	9.37:g.135521323G>A	ENSP00000361232:p.Arg552*		134511144	NM_022779	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Nonsense_Mutation	SNP	ENST00000372159.3	37	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	G	36	5.777643	0.96929	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	.	.	.	5.58	-0.00354	0.14025	.	1.130320	0.06352	N	0.710006	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	1.8196	10.4076	0.44274	0.0:0.2173:0.3364:0.4463	.	.	.	.	X	552;552;552;423;552	.	ENSP00000310539:R552X	R	-	1	2	DDX31	134511144	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	-0.134000	0.10436	-0.274000	0.09232	0.563000	0.77884	CGA		0.612	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	
GTF3C4	9329	broad.mit.edu	37	9	135553405	135553405	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135553405C>T	ENST00000372146.4	+	2	963	c.399C>T	c.(397-399)ttC>ttT	p.F133F	GTF3C4_ENST00000483873.2_Silent_p.F133F	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	133					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.F133F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGGAGAAATTCGCCGCCTCCA	0.443																																					p.F133F	Pancreas(142;417 1875 11086 31973 47667)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C399T	9						.						63.0	64.0	64.0					9																	135553405		2203	4300	6503	134543226	SO:0001819	synonymous_variant	9329	exon2			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.399C>T	9.37:g.135553405C>T			134543226	NM_012204	Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.443	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
GTF3C4	9329	broad.mit.edu	37	9	135559041	135559041	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135559041G>A	ENST00000372146.4	+	3	2840	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	759					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.R759H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TTCACAGATCGCAAACAGGCA	0.408																																					p.R759H	Pancreas(142;417 1875 11086 31973 47667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2276A	9						.						135.0	122.0	126.0					9																	135559041		2203	4300	6503	134548862	SO:0001583	missense	9329	exon3			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.2276G>A	9.37:g.135559041G>A	ENSP00000361219:p.Arg759His		134548862	NM_012204	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071345	0.55646	.	.	ENSG00000125484	ENST00000372146	T	0.44482	0.92	5.88	4.97	0.65823	Transcription factor IIIC, putative zinc-finger (1);	0.172968	0.53938	D	0.000060	T	0.18257	0.0438	N	0.03608	-0.345	0.34073	D	0.658738	B	0.11235	0.004	B	0.08055	0.003	T	0.24225	-1.0166	10	0.15066	T	0.55	-25.5076	9.8528	0.41068	0.0752:0.138:0.7867:0.0	.	759	Q9UKN8	TF3C4_HUMAN	H	759	ENSP00000361219:R759H	ENSP00000361219:R759H	R	+	2	0	GTF3C4	134548862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.784000	0.47774	2.789000	0.95967	0.655000	0.94253	CGC		0.408	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
TSC1	7248	broad.mit.edu	37	9	135771933	135771933	+	Missense_Mutation	SNP	G	G	A	rs118203745		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135771933G>A	ENST00000298552.3	-	23	3405	c.3184C>T	c.(3184-3186)Cgg>Tgg	p.R1062W	TSC1_ENST00000440111.2_Missense_Mutation_p.R1062W|TSC1_ENST00000545250.1_Missense_Mutation_p.R1011W	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1062					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.R1062W(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTCTCCCACCGACTGCTGAAT	0.587			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.R1061W		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|bone(1)	c.C3181T	9						.						49.0	50.0	50.0					9																	135771933		2203	4300	6503	134761754	SO:0001583	missense	7248	exon23	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3184C>T	9.37:g.135771933G>A	ENSP00000298552:p.Arg1062Trp		134761754	NM_001162426	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531359	0.64972	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82433	-1.61;-1.61;-1.42	5.31	3.45	0.39498	.	0.133956	0.51477	D	0.000091	D	0.87083	0.6089	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61722	0.893;0.857	D	0.87593	0.2492	10	0.72032	D	0.01	-10.2471	11.1565	0.48491	0.153:0.0:0.847:0.0	.	1011;1062	B7Z897;Q92574	.;TSC1_HUMAN	W	1062;1062;1011	ENSP00000298552:R1062W;ENSP00000394524:R1062W;ENSP00000444017:R1011W	ENSP00000298552:R1062W	R	-	1	2	TSC1	134761754	1.000000	0.71417	0.996000	0.52242	0.691000	0.40173	5.305000	0.65750	1.231000	0.43661	0.563000	0.77884	CGG		0.587	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
GFI1B	8328	broad.mit.edu	37	9	135864453	135864453	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135864453C>A	ENST00000339463.3	+	9	1335	c.516C>A	c.(514-516)ttC>ttA	p.F172L	GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000450530.1_Missense_Mutation_p.F172L|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372122.1_Missense_Mutation_p.F172L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	172	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.F172L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCCAGGTCTTCTCCACCCCTC	0.652																																					p.F172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C516A	9						.						55.0	44.0	48.0					9																	135864453		2203	4300	6503	134854274	SO:0001583	missense	8328	exon5			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.516C>A	9.37:g.135864453C>A	ENSP00000344782:p.Phe172Leu		134854274	NM_004188	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757500	0.69648	.	.	ENSG00000165702	ENST00000339463;ENST00000450530;ENST00000372122	T;T;T	0.28069	1.63;1.63;1.63	5.42	4.32	0.51571	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	0.48409	0.1498	M	0.71581	2.175	0.80722	D	1	D	0.56035	0.974	P	0.56960	0.81	T	0.52064	-0.8625	10	0.66056	D	0.02	-40.9221	14.1357	0.65287	0.0:0.9147:0.0:0.0853	.	172	Q5VTD9	GFI1B_HUMAN	L	172	ENSP00000344782:F172L;ENSP00000409546:F172L;ENSP00000361195:F172L	ENSP00000344782:F172L	F	+	3	2	GFI1B	134854274	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	4.040000	0.57333	2.519000	0.84933	0.655000	0.94253	TTC		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188	
GFI1B	8328	broad.mit.edu	37	9	135866422	135866422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135866422G>T	ENST00000339463.3	+	11	1797	c.978G>T	c.(976-978)caG>caT	p.Q326H	GFI1B_ENST00000372124.1_Missense_Mutation_p.Q280H|GFI1B_ENST00000534944.1_Missense_Mutation_p.Q280H|GFI1B_ENST00000450530.1_Missense_Mutation_p.Q326H|GFI1B_ENST00000372123.1_Missense_Mutation_p.Q280H|GFI1B_ENST00000372122.1_Missense_Mutation_p.Q326H			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	326	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.Q326H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGAGAGCCAGCACAATCTCA	0.652																																					p.Q280H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G840T	9						.						55.0	50.0	52.0					9																	135866422		2203	4300	6503	134856243	SO:0001583	missense	8328	exon6			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.978G>T	9.37:g.135866422G>T	ENSP00000344782:p.Gln326His		134856243	NM_001135031	O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958631	0.74016	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.48836	0.8;2.99;2.99;0.8;0.8;2.99	5.0	3.09	0.35607	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	N	0.00007	-3.15	0.58432	D	0.999999	P;P	0.48998	0.918;0.828	P;P	0.58391	0.749;0.838	T	0.50021	-0.8876	10	0.02654	T	1	-32.1443	8.37	0.32410	0.2608:0.0:0.7392:0.0	.	280;326	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	H	280;326;326;280;280;326	ENSP00000361197:Q280H;ENSP00000344782:Q326H;ENSP00000409546:Q326H;ENSP00000446134:Q280H;ENSP00000361196:Q280H;ENSP00000361195:Q326H	ENSP00000344782:Q326H	Q	+	3	2	GFI1B	134856243	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.284000	0.33249	1.208000	0.43306	0.462000	0.41574	CAG		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188	
GTF3C5	9328	broad.mit.edu	37	9	135926232	135926232	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:135926232G>A	ENST00000372097.5	+	4	958	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	212					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587																																					p.R212H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635A	9						.						59.0	58.0	58.0					9																	135926232		2203	4300	6503	134916053	SO:0001583	missense	9328	exon4			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.635G>A	9.37:g.135926232G>A	ENSP00000361169:p.Arg212His		134916053	NM_001122823	A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	ENST00000372097.5	37	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	34	5.374599	0.95923	.	.	ENSG00000148308	ENST00000372097;ENST00000440319;ENST00000372099;ENST00000372095;ENST00000372089;ENST00000372108;ENST00000342018;ENST00000439697	T;T;T;T	0.55234	0.73;0.71;0.73;0.53	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73923	0.3649	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72527	-0.4266	10	0.31617	T	0.26	-4.7154	18.0209	0.89254	0.0:0.0:1.0:0.0	.	212;212	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	H	212;165;203;87;62;212;212;87	ENSP00000361169:R212H;ENSP00000361171:R203H;ENSP00000361180:R212H;ENSP00000339530:R212H	ENSP00000339530:R212H	R	+	2	0	GTF3C5	134916053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.197000	0.94985	2.490000	0.84030	0.561000	0.74099	CGC		0.587	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823	
SARDH	1757	broad.mit.edu	37	9	136582546	136582546	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:136582546T>C	ENST00000371872.4	-	8	1309	c.1052A>G	c.(1051-1053)gAc>gGc	p.D351G	SARDH_ENST00000422262.2_Missense_Mutation_p.D183G|SARDH_ENST00000439388.1_Missense_Mutation_p.D351G	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	351					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)	p.D351G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCAGTCCAGGTCAAAGAGGCC	0.592																																					p.D351G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1052G	9						.						90.0	78.0	82.0					9																	136582546		2203	4300	6503	135572367	SO:0001583	missense	1757	exon8				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1052A>G	9.37:g.136582546T>C	ENSP00000360938:p.Asp351Gly		135572367	NM_007101	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901695	0.72754	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281	D;D;D	0.83755	-1.76;-1.76;-1.76	3.95	3.95	0.45737	FAD dependent oxidoreductase (1);	0.061176	0.64402	D	0.000006	D	0.85301	0.5665	M	0.67569	2.06	0.80722	D	1	B	0.32573	0.376	B	0.44163	0.443	D	0.86259	0.1654	10	0.72032	D	0.01	-38.7506	12.8491	0.57848	0.0:0.0:0.0:1.0	.	351	Q9UL12	SARDH_HUMAN	G	351;351;183;351;351;351	ENSP00000360938:D351G;ENSP00000403084:D351G;ENSP00000415537:D183G	ENSP00000360938:D351G	D	-	2	0	SARDH	135572367	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	7.923000	0.87546	1.438000	0.47492	0.379000	0.24179	GAC		0.592	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		
VAV2	7410	broad.mit.edu	37	9	136633646	136633646	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:136633646G>A	ENST00000371850.3	-	29	2538	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L	VAV2_ENST00000371851.1_Missense_Mutation_p.S826L|VAV2_ENST00000406606.3_Missense_Mutation_p.S797L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	836	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S797L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCCGCAGCGAAAGCTCCCT	0.637																																					p.S836L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2507T	9						.						90.0	80.0	83.0					9																	136633646		2203	4300	6503	135623467	SO:0001583	missense	7410	exon29				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2507C>T	9.37:g.136633646G>A	ENSP00000360916:p.Ser836Leu		135623467	NM_001134398	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470823	0.84533	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.23754	1.89;1.89;2.93	4.98	4.98	0.66077	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.955;0.994	T	0.72312	-0.4331	10	0.87932	D	0	.	18.227	0.89921	0.0:0.0:1.0:0.0	.	836;797	P52735;P52735-3	VAV2_HUMAN;.	L	836;826;797;826	ENSP00000360916:S836L;ENSP00000360917:S826L;ENSP00000385362:S797L	ENSP00000317258:S826L	S	-	2	0	VAV2	135623467	1.000000	0.71417	0.994000	0.49952	0.342000	0.28953	9.686000	0.98664	2.297000	0.77311	0.563000	0.77884	TCG		0.637	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1		
COL5A1	1289	broad.mit.edu	37	9	137623485	137623485	+	Silent	SNP	G	G	A	rs200959477		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:137623485G>A	ENST00000371817.3	+	8	1722	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	436	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.A436A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAATGCCGGCGAACCAGGATA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		11666	0.001		0.0	False		,,,				2504	0.0				p.A436A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1308A	9						.	G		0,4406		0,0,2203	81.0	83.0	82.0		1308	-6.6	0.5	9		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		436/1839	137623485	1,13005	2203	4300	6503	136763306	SO:0001819	synonymous_variant	1289	exon8			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1308G>A	9.37:g.137623485G>A			136763306	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
FCN2	2220	broad.mit.edu	37	9	137778296	137778296	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:137778296G>T	ENST00000291744.6	+	7	590	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	FCN2_ENST00000350339.2_Missense_Mutation_p.D156Y	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	194	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.D194Y(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCCGTGTAGACCTGGTGGA	0.557																																					p.D194Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580T	9						.						171.0	156.0	161.0					9																	137778296		2203	4300	6503	136918117	SO:0001583	missense	2220	exon7			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.580G>T	9.37:g.137778296G>T	ENSP00000291744:p.Asp194Tyr		136918117	NM_004108	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201882	0.58234	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.79845	-1.31;-1.31	3.97	3.97	0.46021	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.42172	U	0.000758	D	0.88537	0.6463	M	0.83852	2.665	0.48511	D	0.999667	D;P	0.55172	0.97;0.943	P;P	0.61940	0.768;0.896	D	0.90212	0.4265	10	0.66056	D	0.02	.	13.5334	0.61635	0.0:0.0:1.0:0.0	.	156;194	Q15485-2;Q15485	.;FCN2_HUMAN	Y	156;194	ENSP00000291741:D156Y;ENSP00000291744:D194Y	ENSP00000291744:D194Y	D	+	1	0	FCN2	136918117	1.000000	0.71417	0.326000	0.25389	0.626000	0.37791	7.616000	0.83018	1.749000	0.51849	0.563000	0.77884	GAC		0.557	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108	
FCN1	2219	broad.mit.edu	37	9	137804955	137804955	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:137804955C>A	ENST00000371806.3	-	6	466	c.375G>T	c.(373-375)ggG>ggT	p.G125G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	125	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCAGGAAATACCCCCGGTCTA	0.677																																					p.G125G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G375T	9						.						47.0	45.0	45.0					9																	137804955		2203	4300	6503	136944776	SO:0001819	synonymous_variant	2219	exon6			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.375G>T	9.37:g.137804955C>A			136944776	NM_002003	Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	CCDS6985.1																																																																																				0.677	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
FCN1	2219	broad.mit.edu	37	9	137806239	137806239	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:137806239C>T	ENST00000371806.3	-	4	390	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	100					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G100E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACCTTTCTCTCCACGCATCCC	0.632																																					p.G100E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	9						.						141.0	131.0	134.0					9																	137806239		2203	4300	6503	136946060	SO:0001583	missense	2219	exon4			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.299G>A	9.37:g.137806239C>T	ENSP00000360871:p.Gly100Glu		136946060	NM_002003	Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	9.886	1.203022	0.22121	.	.	ENSG00000085265	ENST00000371807;ENST00000371806	D	0.99619	-6.28	2.86	2.86	0.33363	.	.	.	.	.	D	0.99539	0.9835	M	0.91140	3.18	0.39423	D	0.966941	D	0.56746	0.977	D	0.65323	0.934	D	0.98660	1.0683	9	0.49607	T	0.09	.	9.395	0.38397	0.0:1.0:0.0:0.0	.	100	O00602	FCN1_HUMAN	E	100	ENSP00000360871:G100E	ENSP00000360871:G100E	G	-	2	0	FCN1	136946060	0.995000	0.38212	0.862000	0.33874	0.111000	0.19643	3.190000	0.50973	1.909000	0.55274	0.549000	0.68633	GGA		0.632	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	
OLFM1	10439	broad.mit.edu	37	9	137990137	137990137	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:137990137A>G	ENST00000371793.3	+	4	713	c.462A>G	c.(460-462)atA>atG	p.I154M	OLFM1_ENST00000371796.3_Missense_Mutation_p.I127M|OLFM1_ENST00000252854.4_Missense_Mutation_p.I136M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	154					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.I136M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGCAGGCGATAAAAGCGAAAA	0.473																																					p.I136M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A408G	9						.						87.0	83.0	85.0					9																	137990137		2203	4300	6503	137129958	SO:0001583	missense	10439	exon4			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.462A>G	9.37:g.137990137A>G	ENSP00000360858:p.Ile154Met		137129958	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.70|15.70	2.910306|2.910306	0.52439|0.52439	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877|ENST00000545657	D;T;D;T;D;D|.	0.88664|.	-2.39;1.23;-2.41;0.29;-2.4;-2.03|.	5.12|5.12	2.63|2.63	0.31362|0.31362	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53110|0.53110	0.1776|0.1776	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999979|0.999979	D;D|.	0.71674|.	0.998;0.968|.	D;P|.	0.78314|.	0.991;0.67|.	T|T	0.39333|0.39333	-0.9619|-0.9619	10|5	0.48119|.	T|.	0.1|.	.|.	10.1309|10.1309	0.42678|0.42678	0.7143:0.0:0.0:0.2857|0.7143:0.0:0.0:0.2857	.|.	154;136|.	Q99784;Q6IMJ8|.	NOE1_HUMAN;.|.	M|E	136;143;127;71;154;51|14	ENSP00000252854:I136M;ENSP00000340318:I143M;ENSP00000360861:I127M;ENSP00000444296:I71M;ENSP00000360858:I154M;ENSP00000443806:I51M|.	ENSP00000252854:I136M|.	I|K	+|+	3|1	3|0	OLFM1|OLFM1	137129958|137129958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.504000|3.504000	0.53347|0.53347	0.303000|0.303000	0.22785|0.22785	0.519000|0.519000	0.50382|0.50382	ATA|AAA		0.473	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
OBP2A	29991	broad.mit.edu	37	9	138438725	138438725	+	Silent	SNP	C	C	T	rs561640530		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:138438725C>T	ENST00000539850.1	+	2	200	c.174C>T	c.(172-174)ggC>ggT	p.G58G	OBP2A_ENST00000371776.1_Silent_p.G58G|OBP2A_ENST00000340780.3_Silent_p.G58G|OBP2A_ENST00000342114.4_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	58					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.G58G(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CAGCCCTGGGCGGTGGGAACT	0.632													.|||	1	0.000199681	0.0	0.0	5008	,	,		15941	0.0		0.0	False		,,,				2504	0.001				p.G58G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	9						.						96.0	88.0	91.0					9																	138438725		2203	4300	6503	137578546	SO:0001819	synonymous_variant	29991	exon2			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.174C>T	9.37:g.138438725C>T			137578546	NM_014582	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Silent	SNP	ENST00000539850.1	37	CCDS6992.1																																																																																				0.632	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582	
GLT6D1	360203	broad.mit.edu	37	9	138516053	138516053	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:138516053C>A	ENST00000371763.1	-	5	974	c.721G>T	c.(721-723)Gac>Tac	p.D241Y		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	241					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.D241Y(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TTGATGAAGTCTAAAATATTA	0.388																																					p.D241Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721T	9						.						124.0	123.0	123.0					9																	138516053		1855	4099	5954	137655874	SO:0001583	missense	360203	exon5			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.721G>T	9.37:g.138516053C>A	ENSP00000360829:p.Asp241Tyr		137655874	NM_182974		Missense_Mutation	SNP	ENST00000371763.1	37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155499	0.38021	.	.	ENSG00000204007	ENST00000371763	T	0.01252	5.1	3.49	-6.99	0.01605	.	1.758260	0.02457	N	0.086179	T	0.05090	0.0136	L	0.59436	1.845	0.09310	N	1	D	0.62365	0.991	P	0.62014	0.897	T	0.31558	-0.9939	10	0.72032	D	0.01	-1.361	10.6512	0.45649	0.0:0.6133:0.1204:0.2663	.	241	Q7Z4J2	GL6D1_HUMAN	Y	241	ENSP00000360829:D241Y	ENSP00000360829:D241Y	D	-	1	0	GLT6D1	137655874	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.440000	0.06888	-1.807000	0.01236	-0.302000	0.09304	GAC		0.388	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974	
CAMSAP1	157922	broad.mit.edu	37	9	138703317	138703317	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:138703317C>A	ENST00000389532.4	-	17	4711	c.4647G>T	c.(4645-4647)aaG>aaT	p.K1549N	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.K1271N|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.K1560N|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1549	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.K1549N(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGATCATTTTCTTGGTGATGT	0.463																																					p.K1549N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4647T	9						.						219.0	175.0	190.0					9																	138703317		2203	4300	6503	137843138	SO:0001583	missense	157922	exon17			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4647G>T	9.37:g.138703317C>A	ENSP00000374183:p.Lys1549Asn		137843138	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185840	0.78789	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15718	2.4;2.4;2.4	5.2	4.3	0.51218	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.048847	0.85682	D	0.000000	T	0.32406	0.0828	L	0.41236	1.265	0.58432	D	0.999999	D;P	0.71674	0.998;0.928	D;P	0.81914	0.995;0.777	T	0.06058	-1.0848	10	0.87932	D	0	.	13.8964	0.63775	0.0:0.9261:0.0:0.0739	.	1549;1560	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	1549;1271;1560	ENSP00000374183:K1549N;ENSP00000312463:K1271N;ENSP00000386420:K1560N	ENSP00000312463:K1271N	K	-	3	2	CAMSAP1	137843138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.720000	0.61944	1.321000	0.45227	0.561000	0.74099	AAG		0.463	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
CAMSAP1	157922	broad.mit.edu	37	9	138713151	138713151	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:138713151C>T	ENST00000389532.4	-	11	3420	c.3356G>A	c.(3355-3357)cGa>cAa	p.R1119Q	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R841Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1130Q|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1119					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.R1119Q(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTTTTACTTCGGGAGGAGCC	0.667																																					p.R1119Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3356A	9						.						37.0	48.0	44.0					9																	138713151		2197	4296	6493	137852972	SO:0001583	missense	157922	exon11			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3356G>A	9.37:g.138713151C>T	ENSP00000374183:p.Arg1119Gln		137852972	NM_015447	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506612	0.85282	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.26223	1.76;1.75;1.75	5.11	5.11	0.69529	.	0.309667	0.31347	N	0.007804	T	0.55353	0.1915	M	0.80616	2.505	0.38773	D	0.954593	D;D	0.76494	0.999;0.999	P;D	0.72075	0.895;0.976	T	0.64058	-0.6496	10	0.87932	D	0	-2.3555	18.8693	0.92306	0.0:1.0:0.0:0.0	.	1119;1130	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1119;841;1130	ENSP00000374183:R1119Q;ENSP00000312463:R841Q;ENSP00000386420:R1130Q	ENSP00000312463:R841Q	R	-	2	0	CAMSAP1	137852972	1.000000	0.71417	0.322000	0.25334	0.884000	0.51177	4.381000	0.59587	2.518000	0.84900	0.561000	0.74099	CGA		0.667	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857	
UBAC1	10422	broad.mit.edu	37	9	138838167	138838167	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:138838167C>A	ENST00000371756.3	-	5	709	c.492G>T	c.(490-492)caG>caT	p.Q164H	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	164					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.Q164H(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTAACAGCTTCTGCGCCACCT	0.502																																					p.Q164H	NSCLC(78;973 1398 27381 29552 42415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	9						.						111.0	102.0	105.0					9																	138838167		2203	4300	6503	137977988	SO:0001583	missense	10422	exon5			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.492G>T	9.37:g.138838167C>A	ENSP00000360821:p.Gln164His		137977988	NM_016172	O75500|Q9UMW7	Missense_Mutation	SNP	ENST00000371756.3	37	CCDS35177.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704923	0.30232	.	.	ENSG00000130560	ENST00000371756	T	0.24538	1.85	5.11	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	M	0.74881	2.28	0.80722	D	1	B	0.30889	0.299	B	0.21546	0.035	T	0.03545	-1.1026	10	0.39692	T	0.17	-34.4804	9.9546	0.41660	0.0:0.8293:0.0:0.1707	.	164	Q9BSL1	UBAC1_HUMAN	H	164	ENSP00000360821:Q164H	ENSP00000360821:Q164H	Q	-	3	2	UBAC1	137977988	1.000000	0.71417	0.878000	0.34440	0.247000	0.25773	1.720000	0.38022	0.509000	0.28195	0.561000	0.74099	CAG		0.502	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172	
LCN10	414332	broad.mit.edu	37	9	139635783	139635783	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:139635783G>T	ENST00000474369.1	-	3	257				LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_Intron|LCN6_ENST00000480584.1_5'Flank|LCN10_ENST00000527229.1_Silent_p.I96I|LCN10_ENST00000497771.1_Silent_p.I96I			Q6JVE6	LCN10_HUMAN	lipocalin 10						transport (GO:0006810)	extracellular region (GO:0005576)		p.I96I(1)		breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CTTTCCTCAGGATCACCTCCT	0.687																																					p.I96I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C288A	9						.						59.0	65.0	63.0					9																	139635783		1999	4147	6146	138755604	SO:0001627	intron_variant	414332	exon3			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"""Lipocalins"""	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.258-317C>A	9.37:g.139635783G>T			138755604	NM_001001712	A2RUU3|B0QZ79	Silent	SNP	ENST00000474369.1	37	CCDS35182.2																																																																																				0.687	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318062.2	NM_001001712	
LCN8	138307	broad.mit.edu	37	9	139651020	139651020	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:139651020C>A	ENST00000371688.3	-	3	475	c.180G>T	c.(178-180)aaG>aaT	p.K60N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	83					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)		p.K60N(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGCCCACGATCTTCTCTATCT	0.557																																					p.K60N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G180T	9						.						199.0	180.0	187.0					9																	139651020		2203	4300	6503	138770841	SO:0001583	missense	138307	exon3			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.180G>T	9.37:g.139651020C>A	ENSP00000360753:p.Lys60Asn		138770841	NM_178469	A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	ENST00000371688.3	37	CCDS35183.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129597	0.01756	.	.	ENSG00000204001	ENST00000371688	T	0.08984	3.03	3.55	-7.1	0.01547	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44513	-0.9323	9	0.20046	T	0.44	.	6.9695	0.24640	0.1099:0.0913:0.6355:0.1633	.	83;60	Q6JVE9;Q6JVE9-2	LCN8_HUMAN;.	N	60	ENSP00000360753:K60N	ENSP00000360753:K60N	K	-	3	2	LCN8	138770841	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.229000	0.00720	-0.339000	0.08088	AAG		0.557	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055109.1	NM_178469	
CACNA1B	774	broad.mit.edu	37	9	140777256	140777256	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:140777256G>A	ENST00000371372.1	+	3	596	c.451G>A	c.(451-453)Gct>Act	p.A151T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A151T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A151T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A151T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A151T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	151					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.A151T(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)	CAAAATCATCGCTCTGGGCTT	0.572																																					p.A151T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	9						.						185.0	197.0	193.0					9																	140777256		2098	4211	6309	139897077	SO:0001583	missense	774	exon3			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.451G>A	9.37:g.140777256G>A	ENSP00000360423:p.Ala151Thr		139897077	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070415	0.76301	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34;-5.34	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98421	1.0577	10	0.66056	D	0.02	.	17.6755	0.88229	0.0:0.0:1.0:0.0	.	151	B1AQK6	.	T	151	ENSP00000360423:A151T;ENSP00000277551:A151T;ENSP00000360414:A151T;ENSP00000360408:A151T;ENSP00000360406:A151T	ENSP00000277551:A151T	A	+	1	0	CACNA1B	139897077	1.000000	0.71417	0.087000	0.20705	0.719000	0.41307	9.637000	0.98443	2.164000	0.68074	0.467000	0.42956	GCT		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
DOCK8	81704	broad.mit.edu	37	9	406981	406981	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:406981G>A	ENST00000453981.1	+	28	3554	c.3442G>A	c.(3442-3444)Gat>Aat	p.D1148N	DOCK8_ENST00000382329.1_Missense_Mutation_p.D615N|DOCK8_ENST00000432829.2_Missense_Mutation_p.D1080N|DOCK8_ENST00000469391.1_Missense_Mutation_p.D1048N			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1148					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D1148N(1)|p.D1080N(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGCATGTTCGATCTGACTTC	0.537																																					p.D1048N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3142A	9						.						109.0	106.0	107.0					9																	406981		2203	4300	6503	396981	SO:0001583	missense	81704	exon26			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3442G>A	9.37:g.406981G>A	ENSP00000408464:p.Asp1148Asn		396981	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	36	5.690822	0.96793	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.62	5.62	0.85841	.	0.088085	0.85682	D	0.000000	T	0.37210	0.0995	M	0.74258	2.255	0.80722	D	1	D;P;D	0.54397	0.966;0.889;0.958	P;B;P	0.48114	0.533;0.428;0.567	T	0.13415	-1.0510	10	0.49607	T	0.09	.	20.0246	0.97519	0.0:0.0:1.0:0.0	.	1048;615;1148	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	N	1148;1116;1080;1048;615	ENSP00000408464:D1148N;ENSP00000394888:D1080N;ENSP00000419438:D1048N;ENSP00000371766:D615N	ENSP00000287364:D1116N	D	+	1	0	DOCK8	396981	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	9.603000	0.98315	2.810000	0.96702	0.650000	0.86243	GAT		0.537	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DOCK8	81704	broad.mit.edu	37	9	439338	439338	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:439338G>A	ENST00000453981.1	+	40	5285	c.5173G>A	c.(5173-5175)Gag>Aag	p.E1725K	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1192K|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1657K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1625K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1725	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1657K(1)|p.E1725K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTACTTCACCGAGAGTGGCCT	0.617																																					p.E1625K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4873A	9						.						71.0	66.0	68.0					9																	439338		2203	4300	6503	429338	SO:0001583	missense	81704	exon38			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5173G>A	9.37:g.439338G>A	ENSP00000408464:p.Glu1725Lys		429338	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	34	5.308301	0.95629	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.20881	2.26;2.27;2.25;2.04	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.71184	0.963;0.95;0.972	T	0.66964	-0.5790	10	0.72032	D	0.01	.	18.6173	0.91306	0.0:0.0:1.0:0.0	.	1625;1192;1725	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	K	1725;1693;1657;1625;1192	ENSP00000408464:E1725K;ENSP00000394888:E1657K;ENSP00000419438:E1625K;ENSP00000371766:E1192K	ENSP00000287364:E1693K	E	+	1	0	DOCK8	429338	1.000000	0.71417	0.996000	0.52242	0.738000	0.42128	9.150000	0.94667	2.624000	0.88883	0.655000	0.94253	GAG		0.617	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
DOCK8	81704	broad.mit.edu	37	9	441899	441899	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:441899T>C	ENST00000453981.1	+	42	5492	c.5380T>C	c.(5380-5382)Tac>Cac	p.Y1794H	DOCK8_ENST00000382329.1_Missense_Mutation_p.Y1261H|DOCK8_ENST00000432829.2_Missense_Mutation_p.Y1726H|DOCK8_ENST00000469391.1_Missense_Mutation_p.Y1694H			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1794	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Y1794H(1)|p.Y1726H(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTTTGGAACCTACTTCCGAGT	0.433																																					p.Y1694H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5080C	9						.						105.0	102.0	103.0					9																	441899		2203	4300	6503	431899	SO:0001583	missense	81704	exon40			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5380T>C	9.37:g.441899T>C	ENSP00000408464:p.Tyr1794His		431899	NM_001190458	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.734248	0.89482	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.55052	0.78;0.78;0.78;0.54	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.83744	0.0205	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1694;1261;1794	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	H	1794;1762;1726;1694;1261	ENSP00000408464:Y1794H;ENSP00000394888:Y1726H;ENSP00000419438:Y1694H;ENSP00000371766:Y1261H	ENSP00000287364:Y1762H	Y	+	1	0	DOCK8	431899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.043000	0.71004	2.371000	0.80710	0.533000	0.62120	TAC		0.433	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
KANK1	23189	broad.mit.edu	37	9	711610	711610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:711610C>T	ENST00000382303.1	+	7	1496	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.R282*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.R124*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	282					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.R124*(2)|p.R282*(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGAGCAGGTGCGAACCATCCC	0.552																																					p.R124X												.	.	4	Substitution - Nonsense(4)	large_intestine(2)|autonomic_ganglia(2)	c.C370T	9						.						86.0	81.0	83.0					9																	711610		2203	4300	6503	701610	SO:0001587	stop_gained	23189	exon2			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.844C>T	9.37:g.711610C>T	ENSP00000371740:p.Arg282*		701610	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	44	10.749810	0.99461	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	.	.	.	5.93	1.47	0.22746	.	0.000000	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-1.3225	15.2745	0.73732	0.7335:0.2665:0.0:0.0	.	.	.	.	X	282;282;282;124	.	ENSP00000346479:R282X	R	+	1	2	KANK1	701610	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.504000	0.60414	0.362000	0.24319	0.655000	0.94253	CGA		0.552	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
DMRT3	58524	broad.mit.edu	37	9	990838	990838	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:990838G>A	ENST00000190165.2	+	2	1290	c.1252G>A	c.(1252-1254)Gtc>Atc	p.V418I		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	418					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V418I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CTCTACCAGCGTCTTCAGAAG	0.542																																					p.V418I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1252A	9						.						85.0	66.0	72.0					9																	990838		2203	4300	6503	980838	SO:0001583	missense	58524	exon2			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1252G>A	9.37:g.990838G>A	ENSP00000190165:p.Val418Ile		980838	NM_021240	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209646	0.39003	.	.	ENSG00000064218	ENST00000190165	T	0.30714	1.52	5.22	2.37	0.29283	.	0.145948	0.45361	N	0.000365	T	0.17365	0.0417	L	0.32530	0.975	0.40341	D	0.979033	P	0.36144	0.539	B	0.19148	0.024	T	0.05241	-1.0897	10	0.52906	T	0.07	-20.7237	8.9089	0.35541	0.1365:0.1224:0.7411:0.0	.	418	Q9NQL9	DMRT3_HUMAN	I	418	ENSP00000190165:V418I	ENSP00000190165:V418I	V	+	1	0	DMRT3	980838	0.042000	0.20092	0.602000	0.28890	0.912000	0.54170	1.865000	0.39479	0.208000	0.20626	-0.126000	0.14955	GTC		0.542	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
SMARCA2	6595	broad.mit.edu	37	9	2032957	2032957	+	Silent	SNP	C	C	T	rs148086416	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2032957C>T	ENST00000382203.1	+	3	440	c.231C>T	c.(229-231)atC>atT	p.I77I	SMARCA2_ENST00000382194.1_Silent_p.I77I|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.I77I|SMARCA2_ENST00000349721.2_Silent_p.I77I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	77					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.I77I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTCAGCCCATCGATGGTATAC	0.438													C|||	6	0.00119808	0.0015	0.0043	5008	,	,		18138	0.001		0.0	False		,,,				2504	0.0				p.I77I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	9						.	C	,	1,4405	2.1+/-5.4	0,1,2202	108.0	97.0	101.0		231,231	-11.6	0.2	9	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SMARCA2	NM_003070.3,NM_139045.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	77/1591,77/1573	2032957	2,13004	2203	4300	6503	2022957	SO:0001819	synonymous_variant	6595	exon3			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.231C>T	9.37:g.2032957C>T			2022957	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	CCDS34977.1																																																																																				0.438	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
SMARCA2	6595	broad.mit.edu	37	9	2060894	2060894	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2060894G>A	ENST00000382203.1	+	9	1809	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D534N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D534N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D534N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	534					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D530N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGCAGACCGATGAGTATGT	0.463																																					p.D534N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1600A	9						.						105.0	96.0	99.0					9																	2060894		2203	4300	6503	2050894	SO:0001583	missense	6595	exon9			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1600G>A	9.37:g.2060894G>A	ENSP00000371638:p.Asp534Asn		2050894	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580897	0.96565	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.45137	1.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.994;0.985	T	0.53034	-0.8495	10	0.22706	T	0.39	-28.7058	18.8772	0.92343	0.0:0.0:1.0:0.0	.	135;534;534	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	N	534	ENSP00000265773:D534N;ENSP00000349788:D534N;ENSP00000392081:D534N;ENSP00000371638:D534N;ENSP00000371629:D534N	ENSP00000265773:D534N	D	+	1	0	SMARCA2	2050894	1.000000	0.71417	0.843000	0.33291	0.959000	0.62525	9.657000	0.98554	2.673000	0.90976	0.655000	0.94253	GAT		0.463	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
SMARCA2	6595	broad.mit.edu	37	9	2086832	2086832	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2086832C>T	ENST00000382203.1	+	18	2739	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R844W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R844W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R844W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	844	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R840W(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTTATAGATTCGGTGGAAATA	0.468																																					p.R844W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2530T	9						.						80.0	77.0	78.0					9																	2086832		2203	4300	6503	2076832	SO:0001583	missense	6595	exon18			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2530C>T	9.37:g.2086832C>T	ENSP00000371638:p.Arg844Trp		2076832	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831847	0.91036	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.8	4.9	0.64082	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96291	0.8790	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.985;0.996;0.998	D	0.96768	0.9566	10	0.87932	D	0	-25.0753	16.4761	0.84132	0.1318:0.8682:0.0:0.0	.	445;844;844	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	W	844	ENSP00000265773:R844W;ENSP00000349788:R844W;ENSP00000371638:R844W;ENSP00000371629:R844W	ENSP00000265773:R844W	R	+	1	2	SMARCA2	2076832	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.019000	0.70818	1.436000	0.47453	0.650000	0.86243	CGG		0.468	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
VLDLR	7436	broad.mit.edu	37	9	2648774	2648774	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2648774G>T	ENST00000382100.3	+	14	2424	c.2068G>T	c.(2068-2070)Gac>Tac	p.D690Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.D690Y	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	690					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.D690Y(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGATGCCCAAGACATCATTGT	0.443																																					p.D690Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2068T	9						.						122.0	110.0	114.0					9																	2648774		2203	4300	6503	2638774	SO:0001583	missense	7436	exon14				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2068G>T	9.37:g.2648774G>T	ENSP00000371532:p.Asp690Tyr		2638774	NM_001018056	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991314	0.93106	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.96651	-4.08;-4.08	5.97	5.97	0.96955	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000029	D	0.98801	0.9596	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	D	0.99023	1.0818	10	0.72032	D	0.01	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	690;690;690	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Y	690;690;569	ENSP00000371532:D690Y;ENSP00000371531:D690Y	ENSP00000371524:D569Y	D	+	1	0	VLDLR	2638774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.836000	0.97738	0.655000	0.94253	GAC		0.443	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
KCNV2	169522	broad.mit.edu	37	9	2729545	2729545	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2729545G>A	ENST00000382082.3	+	2	1694	c.1456G>A	c.(1456-1458)Ggg>Agg	p.G486R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	486					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G486R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CATTCTCAACGGGATGCCCAT	0.507																																					p.G486R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1456A	9						.						139.0	110.0	120.0					9																	2729545		2203	4300	6503	2719545	SO:0001583	missense	169522	exon2			AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1456G>A	9.37:g.2729545G>A	ENSP00000371514:p.Gly486Arg		2719545	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597802	0.87055	.	.	ENSG00000168263	ENST00000382082	D	0.97642	-4.47	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99429	1.0935	10	0.87932	D	0	.	19.47	0.94959	0.0:0.0:1.0:0.0	.	486	Q8TDN2	KCNV2_HUMAN	R	486	ENSP00000371514:G486R	ENSP00000371514:G486R	G	+	1	0	KCNV2	2719545	1.000000	0.71417	0.940000	0.37924	0.985000	0.73830	9.813000	0.99286	2.681000	0.91329	0.655000	0.94253	GGG		0.507	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
KIAA0020	9933	broad.mit.edu	37	9	2837247	2837247	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:2837247C>A	ENST00000397885.2	-	3	443	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	79						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K79N(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GGAATTTGTTCTTTGGTGATT	0.403																																					p.K79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	9						.						280.0	265.0	270.0					9																	2837247		1859	4099	5958	2827247	SO:0001583	missense	9933	exon3			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.237G>T	9.37:g.2837247C>A	ENSP00000380982:p.Lys79Asn		2827247	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194424	0.78902	.	.	ENSG00000080608	ENST00000397885	D	0.86497	-2.13	4.55	4.55	0.56014	.	0.146210	0.45126	D	0.000393	T	0.79003	0.4373	L	0.29908	0.895	0.32546	N	0.533064	B	0.34200	0.441	B	0.28638	0.092	T	0.79112	-0.1937	10	0.18276	T	0.48	-18.0287	17.4585	0.87614	0.0:1.0:0.0:0.0	.	79	Q15397	K0020_HUMAN	N	79	ENSP00000380982:K79N	ENSP00000380982:K79N	K	-	3	2	KIAA0020	2827247	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.331000	0.59273	2.523000	0.85059	0.650000	0.86243	AAG		0.403	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
GLIS3	169792	broad.mit.edu	37	9	3856069	3856069	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:3856069G>A	ENST00000324333.10	-	8	2141	c.1948C>T	c.(1948-1950)Ctg>Ttg	p.L650L	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.L805L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	650					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L650L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TAGGACTTCAGGTGTGAACCT	0.483																																					p.L650L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1948T	9						.						161.0	154.0	156.0					9																	3856069		2203	4300	6503	3846069	SO:0001819	synonymous_variant	169792	exon8			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1948C>T	9.37:g.3856069G>A			3846069	NM_152629	B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	CCDS6451.1																																																																																				0.483	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
GLIS3	169792	broad.mit.edu	37	9	4118183	4118183	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:4118183C>T	ENST00000324333.10	-	3	1023	c.830G>A	c.(829-831)cGc>cAc	p.R277H	GLIS3_ENST00000381971.3_Missense_Mutation_p.R432H	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R277H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCCTCCAGGCGTTCGGTCTT	0.721																																					p.R277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830A	9						.						6.0	8.0	7.0					9																	4118183		1691	3386	5077	4108183	SO:0001583	missense	169792	exon3			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.830G>A	9.37:g.4118183C>T	ENSP00000325494:p.Arg277His		4108183	NM_152629	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351725	0.61183	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11385	2.8;2.78	5.51	5.51	0.81932	.	0.000000	0.45606	D	0.000358	T	0.20373	0.0490	M	0.63428	1.95	0.27650	N	0.947427	D;D	0.64830	0.994;0.971	P;B	0.51415	0.669;0.374	T	0.05818	-1.0862	10	0.46703	T	0.11	.	13.1567	0.59522	0.0:0.9169:0.0:0.0831	.	432;277	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	H	277;432	ENSP00000325494:R277H;ENSP00000371398:R432H	ENSP00000325494:R277H	R	-	2	0	GLIS3	4108183	0.988000	0.35896	1.000000	0.80357	0.676000	0.39594	1.035000	0.30216	2.583000	0.87209	0.655000	0.94253	CGC		0.721	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
PPAPDC2	403313	broad.mit.edu	37	9	4662720	4662720	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:4662720G>T	ENST00000381883.2	+	1	423	c.345G>T	c.(343-345)aaG>aaT	p.K115N	SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	115						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.K115N(1)		endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGCTGTCCAAGAAGCTGGGGG	0.682											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K115N	Melanoma(187;1057 3809 8526)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G345T	9						.						35.0	36.0	36.0					9																	4662720		2203	4300	6503	4652720	SO:0001583	missense	403313	exon1			AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"""polyisoprenoid diphosphate phosphatase type 1"""	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.345G>T	9.37:g.4662720G>T	ENSP00000371307:p.Lys115Asn	620	4652720	NM_203453	B3KY05|Q5JVJ6|Q8NCK9	Missense_Mutation	SNP	ENST00000381883.2	37	CCDS34981.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060166	0.93846	.	.	ENSG00000205808	ENST00000381883;ENST00000537542	T	0.17854	2.25	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.37732	0.1014	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02933	-1.1092	10	0.72032	D	0.01	-24.7291	16.7297	0.85431	0.0:0.0:1.0:0.0	.	115	Q8IY26	PPAC2_HUMAN	N	115;24	ENSP00000371307:K115N	ENSP00000371307:K115N	K	+	3	2	PPAPDC2	4652720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.183000	0.72002	2.798000	0.96311	0.655000	0.94253	AAG		0.682	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453	
JAK2	3717	broad.mit.edu	37	9	5064899	5064899	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5064899C>A	ENST00000381652.3	+	9	1567	c.1073C>A	c.(1072-1074)tCa>tAa	p.S358*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.S358*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.S209*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	358	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.S358*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAACTTAGCTCATTAAGGGAA	0.338		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.S358X			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1073A	9						.						95.0	94.0	94.0					9																	5064899		2202	4300	6502	5054899	SO:0001587	stop_gained	3717	exon9	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1073C>A	9.37:g.5064899C>A	ENSP00000371067:p.Ser358*		5054899	NM_004972	O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	40	8.036297	0.98621	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	4.85	4.85	0.62838	.	0.263641	0.35096	N	0.003448	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8508	18.3218	0.90241	0.0:1.0:0.0:0.0	.	.	.	.	X	358;358;209	.	ENSP00000371067:S358X	S	+	2	0	JAK2	5054899	0.467000	0.25831	1.000000	0.80357	0.918000	0.54935	2.336000	0.43938	2.412000	0.81896	0.313000	0.20887	TCA		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
JAK2	3717	broad.mit.edu	37	9	5069145	5069145	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5069145G>A	ENST00000381652.3	+	11	1944	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	JAK2_ENST00000539801.1_Missense_Mutation_p.E484K|JAK2_ENST00000544510.1_Missense_Mutation_p.E335K	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	484					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.E484K(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTACCAGATGGAAACTGTTCG	0.338		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.E484K			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1450A	9						.						73.0	73.0	73.0					9																	5069145		2203	4299	6502	5059145	SO:0001583	missense	3717	exon11	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1450G>A	9.37:g.5069145G>A	ENSP00000371067:p.Glu484Lys		5059145	NM_004972	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023325	0.54683	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.25579	1.79;1.79;1.79	4.81	4.81	0.61882	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.68317	2.08	0.80722	D	1	P	0.46512	0.879	B	0.40782	0.34	T	0.13899	-1.0492	10	0.30078	T	0.28	-19.2903	17.8943	0.88881	0.0:0.0:1.0:0.0	.	484	O60674	JAK2_HUMAN	K	484;484;335	ENSP00000440387:E484K;ENSP00000371067:E484K;ENSP00000443103:E335K	ENSP00000371067:E484K	E	+	1	0	JAK2	5059145	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	9.427000	0.97472	2.198000	0.70561	0.591000	0.81541	GAA		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
RLN1	6013	broad.mit.edu	37	9	5335270	5335270	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5335270G>T	ENST00000223862.1	-	2	665	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	RLN1_ENST00000487557.2_5'UTR|RLN1_ENST00000223858.4_3'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	180					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S180Y(1)		large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTTAGCAAGAGACCTTTTGGT	0.383																																					p.S180Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C539A	9						.						80.0	75.0	77.0					9																	5335270		2203	4300	6503	5325270	SO:0001583	missense	6013	exon2				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.539C>A	9.37:g.5335270G>T	ENSP00000223862:p.Ser180Tyr		5325270	NM_006911	Q99936|Q9UQJ1	Missense_Mutation	SNP	ENST00000223862.1	37	CCDS6462.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.062124	0.01950	.	.	ENSG00000107018	ENST00000223862	D	0.84442	-1.85	2.62	-5.24	0.02789	Insulin, conserved site (1);Insulin-like (4);	1.070350	0.07374	N	0.886332	T	0.73410	0.3583	L	0.42245	1.32	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.54781	-0.8242	10	0.27785	T	0.31	.	2.1899	0.03896	0.203:0.128:0.4664:0.2027	.	180	P04808	REL1_HUMAN	Y	180	ENSP00000223862:S180Y	ENSP00000223862:S180Y	S	-	2	0	RLN1	5325270	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.250000	0.08830	-1.535000	0.01740	-0.926000	0.02714	TCT		0.383	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1		
CD274	29126	broad.mit.edu	37	9	5466805	5466805	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5466805G>T	ENST00000381577.3	+	6	912	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Missense_Mutation_p.D162Y	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	276					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D276Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TGGCATCCAAGATACAAACTC	0.348			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.D276Y			Dom	yes		9	9p24	29126	CD274 molecule		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826T	9						.						126.0	120.0	122.0					9																	5466805		2203	4300	6503	5456805	SO:0001583	missense	29126	exon6			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.826G>T	9.37:g.5466805G>T	ENSP00000370989:p.Asp276Tyr		5456805	NM_014143	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	G	7.492	0.650921	0.14516	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.38240	1.15;5.18	4.16	2.34	0.29019	.	0.463942	0.19810	N	0.105544	T	0.33177	0.0854	L	0.36672	1.1	0.09310	N	1	D;B	0.58970	0.984;0.303	P;B	0.50440	0.641;0.172	T	0.10520	-1.0626	10	0.72032	D	0.01	-8.3026	6.4937	0.22130	0.2158:0.0:0.7842:0.0	.	162;276	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	Y	162;276	ENSP00000370985:D162Y;ENSP00000370989:D276Y	ENSP00000370985:D162Y	D	+	1	0	CD274	5456805	0.008000	0.16893	0.002000	0.10522	0.008000	0.06430	0.629000	0.24538	0.718000	0.32166	-0.258000	0.10820	GAT		0.348	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143	
RIC1	57589	broad.mit.edu	37	9	5772740	5772740	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5772740C>T	ENST00000414202.2	+	24	3984	c.3793C>T	c.(3793-3795)Cgg>Tgg	p.R1265W	KIAA1432_ENST00000449720.2_Splice_Site_p.R1149W|KIAA1432_ENST00000418622.3_Splice_Site_p.R1186W	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R1186W(2)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGTCCAGCTTCGGTGAGTTTC	0.438																																					p.R1186W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3556T	9						.						51.0	50.0	50.0					9																	5772740		2203	4300	6503	5762740	SO:0001630	splice_region_variant	57589	exon23																														ENST00000414202.2:c.3794+1C>T	9.37:g.5772740C>T			5762740	NM_020829		Missense_Mutation	SNP	ENST00000414202.2	37	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.829814|3.829814	0.71258|0.71258	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720;ENST00000490816|ENST00000545641	.|.	.|.	.|.	5.66|5.66	3.79|3.79	0.43588|0.43588	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71143|0.71143	0.3305|0.3305	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.69781|0.69781	-0.5052|-0.5052	9|5	0.87932|.	D|.	0|.	-18.0482|-18.0482	14.9079|14.9079	0.70733|0.70733	0.3725:0.6274:0.0:0.0|0.3725:0.6274:0.0:0.0	.|.	1149;1265|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	W|L	1265;1186;1149;84|1156	.|.	ENSP00000416696:R1265W|.	R|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5762740|5762740	0.977000|0.977000	0.34250|0.34250	0.977000|0.977000	0.42913|0.42913	0.949000|0.949000	0.60115|0.60115	2.465000|2.465000	0.45075|0.45075	0.718000|0.718000	0.32166|0.32166	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.438	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		Missense_Mutation
ERMP1	79956	broad.mit.edu	37	9	5812130	5812130	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5812130C>A	ENST00000339450.5	-	6	1198	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R146I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	370						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R370I(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCAACCTGCTCTCTGAATGGA	0.343																																					p.R370I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1109T	9						.						146.0	150.0	148.0					9																	5812130		2203	4300	6503	5802130	SO:0001583	missense	79956	exon6			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1109G>T	9.37:g.5812130C>A	ENSP00000340427:p.Arg370Ile		5802130	NM_024896	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370796	0.95923	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.49720	0.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67937	-0.5541	10	0.59425	D	0.04	-18.2006	19.4394	0.94811	0.0:1.0:0.0:0.0	.	370	Q7Z2K6	ERMP1_HUMAN	I	370;146	ENSP00000340427:R370I	ENSP00000340427:R370I	R	-	2	0	ERMP1	5802130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.476000	0.81055	2.581000	0.87130	0.655000	0.94253	AGA		0.343	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
MLANA	2315	broad.mit.edu	37	9	5897569	5897569	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5897569C>T	ENST00000381477.3	+	3	250	c.90C>T	c.(88-90)atC>atT	p.I30I	MLANA_ENST00000381471.1_Silent_p.I30I|MLANA_ENST00000490518.1_3'UTR|KIAA2026_ENST00000443149.2_5'Flank|MLANA_ENST00000381476.1_Silent_p.I30I	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	30						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)		p.I30I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		CCGCTGGGATCGGCATCCTGA	0.448																																					p.I30I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C90T	9						.						159.0	146.0	150.0					9																	5897569		2203	4300	6503	5887569	SO:0001819	synonymous_variant	2315	exon3				CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.90C>T	9.37:g.5897569C>T			5887569	NM_005511	Q6ICU4	Silent	SNP	ENST00000381477.3	37	CCDS6466.1																																																																																				0.448	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1		
MLANA	2315	broad.mit.edu	37	9	5897631	5897631	+	Missense_Mutation	SNP	G	G	A	rs142544535		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5897631G>A	ENST00000381477.3	+	3	312	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	MLANA_ENST00000381471.1_Missense_Mutation_p.R51Q|MLANA_ENST00000490518.1_3'UTR|KIAA2026_ENST00000443149.2_5'Flank|MLANA_ENST00000381476.1_Missense_Mutation_p.R51Q	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	51						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)		p.R51Q(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TGTAGAAGACGAAATGGATAC	0.512																																					p.R51Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G152A	9						.	G	GLN/ARG	0,4406		0,0,2203	168.0	155.0	159.0		152	5.0	1.0	9	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense	MLANA	NM_005511.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	51/119	5897631	1,13005	2203	4300	6503	5887631	SO:0001583	missense	2315	exon3				CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.152G>A	9.37:g.5897631G>A	ENSP00000370886:p.Arg51Gln		5887631	NM_005511	Q6ICU4	Missense_Mutation	SNP	ENST00000381477.3	37	CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861265	0.32884	0.0	1.16E-4	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.71581	2.175	0.34257	D	0.679496	P	0.44986	0.847	B	0.34722	0.188	T	0.68116	-0.5494	9	0.87932	D	0	-10.6036	11.0406	0.47829	0.0849:0.0:0.9151:0.0	.	51	Q16655	MAR1_HUMAN	Q	51	.	ENSP00000370880:R51Q	R	+	2	0	MLANA	5887631	1.000000	0.71417	0.993000	0.49108	0.005000	0.04900	2.425000	0.44723	1.512000	0.48834	-0.136000	0.14681	CGA		0.512	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1		
KIAA2026	158358	broad.mit.edu	37	9	5920353	5920353	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5920353A>G	ENST00000399933.3	-	8	5642	c.5643T>C	c.(5641-5643)agT>agC	p.S1881S	KIAA2026_ENST00000381461.2_Silent_p.S1851S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1881								p.S1056S(1)|p.S1881S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCAAAGGTGTACTGGTATTGA	0.448																																					p.S1881S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5643C	9						.						168.0	169.0	169.0					9																	5920353		1956	4160	6116	5910353	SO:0001819	synonymous_variant	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5643T>C	9.37:g.5920353A>G			5910353	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37																																																																																					0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5921062	5921062	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5921062G>T	ENST00000399933.3	-	8	4933	c.4934C>A	c.(4933-4935)tCt>tAt	p.S1645Y	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S1615Y	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1645								p.S1645Y(1)|p.S820Y(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTGCTGAAGAAACCACTGA	0.423																																					p.S1645Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4934A	9						.						100.0	96.0	97.0					9																	5921062		1854	4098	5952	5911062	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4934C>A	9.37:g.5921062G>T	ENSP00000382815:p.Ser1645Tyr		5911062	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	17.21	3.332870	0.60853	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.65	4.65	0.58169	.	0.227969	0.30473	N	0.009555	T	0.34832	0.0911	L	0.27053	0.805	0.24306	N	0.995101	D	0.54207	0.965	P	0.51135	0.66	T	0.17137	-1.0379	9	0.62326	D	0.03	-8.2055	11.6682	0.51387	0.0941:0.0:0.9059:0.0	.	1645	Q5HYC2	K2026_HUMAN	Y	1645;1615	.	ENSP00000370870:S1615Y	S	-	2	0	KIAA2026	5911062	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.023000	0.49666	2.420000	0.82092	0.591000	0.81541	TCT		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5922155	5922155	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5922155G>A	ENST00000399933.3	-	8	3840	c.3841C>T	c.(3841-3843)Ctt>Ttt	p.L1281F	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1251F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1281								p.L456F(1)|p.L1281F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTCCTAACAAGAATTGACTGT	0.408																																					p.L1281F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3841T	9						.						130.0	120.0	123.0					9																	5922155		1897	4123	6020	5912155	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3841C>T	9.37:g.5922155G>A	ENSP00000382815:p.Leu1281Phe		5912155	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375236	0.61735	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000013	T	0.65923	0.2738	L	0.29908	0.895	0.44816	D	0.99782	D	0.89917	1.0	D	0.91635	0.999	T	0.64655	-0.6356	9	0.34782	T	0.22	-10.3327	17.7075	0.88312	0.0:0.0:1.0:0.0	.	1281	Q5HYC2	K2026_HUMAN	F	1281;1251	.	ENSP00000370870:L1251F	L	-	1	0	KIAA2026	5912155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.357000	0.79456	2.428000	0.82296	0.555000	0.69702	CTT		0.408	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KIAA2026	158358	broad.mit.edu	37	9	5922336	5922336	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:5922336G>T	ENST00000399933.3	-	8	3659	c.3660C>A	c.(3658-3660)ttC>ttA	p.F1220L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.F1190L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1220								p.F395L(1)|p.F1220L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGGGCAAGGAGAATGTGGCTG	0.463																																					p.F1220L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3660A	9						.						99.0	98.0	98.0					9																	5922336		2062	4208	6270	5912336	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3660C>A	9.37:g.5922336G>T	ENSP00000382815:p.Phe1220Leu		5912336	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	7.962	0.747100	0.15710	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.99	2.1	0.27182	.	0.533626	0.18448	N	0.140904	T	0.18425	0.0442	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17561	-1.0365	9	0.18276	T	0.48	-1.5147	1.9016	0.03269	0.2181:0.2482:0.4064:0.1273	.	1220	Q5HYC2	K2026_HUMAN	L	1220;1190	.	ENSP00000370870:F1190L	F	-	3	2	KIAA2026	5912336	0.603000	0.26924	0.380000	0.26093	0.705000	0.40729	0.049000	0.14099	0.279000	0.22186	0.555000	0.69702	TTC		0.463	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
RANBP6	26953	broad.mit.edu	37	9	6012674	6012674	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:6012674C>A	ENST00000259569.5	-	1	2944	c.2934G>T	c.(2932-2934)gaG>gaT	p.E978D	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	978					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E978D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGATACAGTTCTCTGTAGCAA	0.363																																					p.E978D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2934T	9						.						116.0	108.0	111.0					9																	6012674		2203	4300	6503	6002674	SO:0001583	missense	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2934G>T	9.37:g.6012674C>A	ENSP00000259569:p.Glu978Asp		6002674	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216163	0.39201	.	.	ENSG00000137040	ENST00000259569	T	0.06768	3.26	4.79	1.98	0.26296	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.47078	1.49	0.58432	D	0.999999	D;D;D	0.59357	0.985;0.985;0.965	P;P;P	0.58013	0.831;0.728;0.62	T	0.36212	-0.9757	10	0.02654	T	1	-10.0109	6.578	0.22577	0.0:0.6266:0.0:0.3734	.	145;566;978	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	D	978	ENSP00000259569:E978D	ENSP00000259569:E978D	E	-	3	2	RANBP6	6002674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.988000	0.29616	0.490000	0.27771	0.655000	0.94253	GAG		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
RANBP6	26953	broad.mit.edu	37	9	6015324	6015324	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:6015324C>A	ENST00000259569.5	-	1	294	c.284G>T	c.(283-285)aGa>aTa	p.R95I	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	95					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R95I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTTGACATCTCTCTGAACATC	0.448																																					p.R95I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284T	9						.						84.0	85.0	85.0					9																	6015324		2203	4300	6503	6005324	SO:0001583	missense	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.284G>T	9.37:g.6015324C>A	ENSP00000259569:p.Arg95Ile		6005324	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527131	0.27299	.	.	ENSG00000137040	ENST00000259569	T	0.67865	-0.29	4.39	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.215729	0.46145	D	0.000316	T	0.38241	0.1033	N	0.01874	-0.695	0.44289	D	0.99715	B	0.09022	0.002	B	0.01281	0.0	T	0.31613	-0.9937	10	0.41790	T	0.15	-7.9498	10.7292	0.46087	0.0:0.8073:0.1927:0.0	.	95	O60518	RNBP6_HUMAN	I	95	ENSP00000259569:R95I	ENSP00000259569:R95I	R	-	2	0	RANBP6	6005324	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	1.794000	0.38774	2.733000	0.93635	0.561000	0.74099	AGA		0.448	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
TPD52L3	89882	broad.mit.edu	37	9	6330998	6330998	+	IGR	SNP	G	G	A	rs192550349		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:6330998G>A	ENST00000344545.5	+	0	2572				TPD52L3_ENST00000314556.3_Silent_p.T130T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3									p.T130T(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ATAAATACACGTTAAATCAAG	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		20283	0.0		0.001	False		,,,				2504	0.0				p.T130T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G390A	9						.						102.0	101.0	101.0					9																	6330998		2202	4298	6500	6320998	SO:0001628	intergenic_variant	89882	exon2			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518		9.37:g.6330998G>A			6320998	NM_001001874	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	CCDS34986.1																																																																																				0.313	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516	
GLDC	2731	broad.mit.edu	37	9	6604606	6604606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:6604606C>A	ENST00000321612.6	-	7	1190	c.1040G>T	c.(1039-1041)aGa>aTa	p.R347I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	347					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.R347I(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CCCCACCATTCTTCCAGGCAT	0.458																																					p.R347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040T	9						.						80.0	84.0	82.0					9																	6604606		2203	4300	6503	6594606	SO:0001583	missense	2731	exon7			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1040G>T	9.37:g.6604606C>A	ENSP00000370737:p.Arg347Ile		6594606	NM_000170	Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774774	0.90108	.	.	ENSG00000178445	ENST00000321612	D	0.98296	-4.85	5.25	5.25	0.73442	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.98769	4.325	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98016	1.0368	10	0.87932	D	0	-20.4403	19.1956	0.93686	0.0:1.0:0.0:0.0	.	347	P23378	GCSP_HUMAN	I	347	ENSP00000370737:R347I	ENSP00000370737:R347I	R	-	2	0	GLDC	6594606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.270000	0.78493	2.615000	0.88500	0.591000	0.81541	AGA		0.458	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
KDM4C	23081	broad.mit.edu	37	9	6880041	6880041	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:6880041G>A	ENST00000381309.3	+	6	1224	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	KDM4C_ENST00000381306.3_Missense_Mutation_p.R220Q|KDM4C_ENST00000543771.1_Missense_Mutation_p.R220Q|KDM4C_ENST00000535193.1_Missense_Mutation_p.R242Q|KDM4C_ENST00000536108.1_Missense_Mutation_p.R39Q|KDM4C_ENST00000442236.2_Missense_Mutation_p.R39Q|KDM4C_ENST00000489243.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	220	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.R220Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CATGGAAAACGACTTGAAAGA	0.303																																					p.R242Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	9						.						64.0	64.0	64.0					9																	6880041		2203	4299	6502	6870041	SO:0001583	missense	23081	exon6			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.659G>A	9.37:g.6880041G>A	ENSP00000370710:p.Arg220Gln		6870041	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731119	0.96856	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.16	5.16	0.70880	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.153645	0.46442	D	0.000287	D	0.83852	0.5344	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.993;0.978;0.992;1.0	D;D;P;B;P;D	0.77557	0.99;0.989;0.768;0.399;0.75;0.962	D	0.85362	0.1108	10	0.87932	D	0	-0.0458	18.8266	0.92122	0.0:0.0:1.0:0.0	.	39;220;220;242;220;220	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	Q	242;220;220;220;39;39	ENSP00000442382:R242Q;ENSP00000445427:R220Q;ENSP00000370710:R220Q;ENSP00000370707:R220Q;ENSP00000409353:R39Q;ENSP00000440656:R39Q	ENSP00000370707:R220Q	R	+	2	0	KDM4C	6870041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.040000	0.93783	2.677000	0.91161	0.591000	0.81541	CGA		0.303	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
KDM4C	23081	broad.mit.edu	37	9	7013848	7013848	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:7013848A>G	ENST00000381309.3	+	14	2594	c.2029A>G	c.(2029-2031)Aca>Gca	p.T677A	KDM4C_ENST00000381306.3_Missense_Mutation_p.T677A|KDM4C_ENST00000543771.1_Missense_Mutation_p.T677A|KDM4C_ENST00000535193.1_Missense_Mutation_p.T699A|KDM4C_ENST00000536108.1_Missense_Mutation_p.T496A|KDM4C_ENST00000428870.2_Missense_Mutation_p.T364A|KDM4C_ENST00000442236.2_Missense_Mutation_p.T422A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	677					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.T677A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGAAGTCGTTACATCGGAGGG	0.383																																					p.T699A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2095G	9						.						121.0	115.0	117.0					9																	7013848		2203	4300	6503	7003848	SO:0001583	missense	23081	exon14			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2029A>G	9.37:g.7013848A>G	ENSP00000370710:p.Thr677Ala		7003848	NM_001146696	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.910849	0.00508	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T;T	0.17213	2.39;2.4;2.56;2.47;2.78;2.29;3.57;2.84	4.89	-0.839	0.10759	.	1.039740	0.07467	N	0.901564	T	0.06416	0.0165	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.002;0.002;0.0;0.002	T	0.39121	-0.9629	10	0.07644	T	0.81	.	0.4012	0.00426	0.3739:0.2288:0.1881:0.2091	.	422;677;699;677;677	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	A	699;677;677;677;422;496;364;21	ENSP00000442382:T699A;ENSP00000445427:T677A;ENSP00000370710:T677A;ENSP00000370707:T677A;ENSP00000409353:T422A;ENSP00000440656:T496A;ENSP00000405739:T364A;ENSP00000400127:T21A	ENSP00000370707:T677A	T	+	1	0	KDM4C	7003848	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.136000	0.10405	-0.007000	0.14345	0.477000	0.44152	ACA		0.383	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061	
PTPRD	5789	broad.mit.edu	37	9	8518036	8518036	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:8518036C>A	ENST00000381196.4	-	18	1898	c.1355G>T	c.(1354-1356)aGa>aTa	p.R452I	PTPRD_ENST00000397617.3_Missense_Mutation_p.R442I|PTPRD_ENST00000540109.1_Missense_Mutation_p.R452I|PTPRD_ENST00000486161.1_Missense_Mutation_p.R452I|PTPRD_ENST00000356435.5_Missense_Mutation_p.R452I|PTPRD_ENST00000397606.3_Missense_Mutation_p.R442I|PTPRD_ENST00000397611.3_Missense_Mutation_p.R449I|PTPRD_ENST00000537002.1_Missense_Mutation_p.R449I|PTPRD_ENST00000360074.4_Missense_Mutation_p.R439I|PTPRD_ENST00000358503.5_Missense_Mutation_p.R439I|PTPRD_ENST00000355233.5_Missense_Mutation_p.R452I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	452	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R452I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAATAAACTCTATATCCTTG	0.458										TSP Lung(15;0.13)																											p.R449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346T	9						.						300.0	268.0	279.0					9																	8518036		2203	4300	6503	8508036	SO:0001583	missense	5789	exon9			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1355G>T	9.37:g.8518036C>A	ENSP00000370593:p.Arg452Ile		8508036	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156797	0.57259	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	L	0.55481	1.735	0.80722	D	1	P;D;D;D;B;D;D;D;D	0.89917	0.629;0.999;0.999;0.999;0.334;0.997;1.0;0.999;1.0	P;D;D;D;B;D;D;D;D	0.83275	0.604;0.996;0.978;0.996;0.251;0.968;0.995;0.99;0.992	T	0.74447	-0.3662	9	.	.	.	.	18.9787	0.92747	0.0:1.0:0.0:0.0	.	442;446;452;452;449;449;439;452;452	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	452;452;439;439;452;442;449;449;452;452;452;442	ENSP00000370593:R452I;ENSP00000348812:R452I;ENSP00000353187:R439I;ENSP00000351293:R439I;ENSP00000347373:R452I;ENSP00000380741:R442I;ENSP00000380735:R449I;ENSP00000440515:R449I;ENSP00000438164:R452I;ENSP00000417093:R452I;ENSP00000380731:R442I	.	R	-	2	0	PTPRD	8508036	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.770000	0.85390	2.484000	0.83849	0.467000	0.42956	AGA		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
NFIB	4781	broad.mit.edu	37	9	14307498	14307498	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14307498C>T	ENST00000380959.3	-	2	525	c.52G>A	c.(52-54)Gag>Aag	p.E18K	NFIB_ENST00000380953.1_Missense_Mutation_p.E18K|NFIB_ENST00000380921.3_Missense_Mutation_p.E18K|NFIB_ENST00000397575.3_Missense_Mutation_p.E18K|NFIB_ENST00000380934.4_Missense_Mutation_p.E44K|NFIB_ENST00000397581.2_Missense_Mutation_p.E18K|NFIB_ENST00000397579.2_Missense_Mutation_p.E18K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	18					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.E18K(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGAAGTGCCTCGATGAATGGG	0.403			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																p.E44K	Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G130A	9						.						58.0	57.0	58.0					9																	14307498		2203	4300	6503	14297498	SO:0001583	missense	4781	exon2			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.52G>A	9.37:g.14307498C>T	ENSP00000370346:p.Glu18Lys		14297498	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512354	0.85389	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.56941	0.49;0.53;0.5;0.44;0.43;0.55	5.51	5.51	0.81932	CTF transcription factor/nuclear factor 1, N-terminal (1);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.74348	0.974;0.983;0.974	T	0.75569	-0.3272	10	0.87932	D	0	.	19.4366	0.94798	0.0:1.0:0.0:0.0	.	18;18;18	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	K	44;18;18;18;18;18;18	ENSP00000370321:E44K;ENSP00000370346:E18K;ENSP00000370340:E18K;ENSP00000380705:E18K;ENSP00000380711:E18K;ENSP00000380709:E18K	ENSP00000370308:E18K	E	-	1	0	NFIB	14297498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.580000	0.87095	0.650000	0.86243	GAG		0.403	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
ZDHHC21	340481	broad.mit.edu	37	9	14619085	14619085	+	Missense_Mutation	SNP	C	C	T	rs61752940	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14619085C>T	ENST00000380916.4	-	10	1143	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	226					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R226Q(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CCATGGCTTTCGGGGCCTCGA	0.493													C|||	6	0.00119808	0.0	0.0	5008	,	,		16863	0.004		0.001	False		,,,				2504	0.001				p.R226Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	9						.	C	GLN/ARG	0,4406		0,0,2203	95.0	91.0	92.0		677	5.8	1.0	9	dbSNP_129	92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZDHHC21	NM_178566.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	226/266	14619085	1,13005	2203	4300	6503	14609085	SO:0001583	missense	340481	exon10			AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.677G>A	9.37:g.14619085C>T	ENSP00000370303:p.Arg226Gln		14609085	NM_178566	A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	37	CCDS6475.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	17.60	3.428798	0.62844	0.0	1.16E-4	ENSG00000175893	ENST00000380916	T	0.47177	0.85	5.82	5.82	0.92795	.	0.066025	0.64402	D	0.000009	T	0.44891	0.1315	N	0.19112	0.55	0.58432	D	0.999996	D	0.64830	0.994	P	0.61201	0.885	T	0.39840	-0.9594	10	0.27082	T	0.32	-5.5419	20.0938	0.97831	0.0:1.0:0.0:0.0	rs61752940	226	Q8IVQ6	ZDH21_HUMAN	Q	226	ENSP00000370303:R226Q	ENSP00000370303:R226Q	R	-	2	0	ZDHHC21	14609085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.324000	0.59228	2.757000	0.94681	0.585000	0.79938	CGA		0.493	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566	
ZDHHC21	340481	broad.mit.edu	37	9	14662297	14662297	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14662297T>G	ENST00000380916.4	-	6	747	c.281A>C	c.(280-282)aAg>aCg	p.K94T		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	94					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K94T(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CAAATTACACTTGTTACATAA	0.393																																					p.K94T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281C	9						.						65.0	62.0	63.0					9																	14662297		2203	4300	6503	14652297	SO:0001583	missense	340481	exon6			AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.281A>C	9.37:g.14662297T>G	ENSP00000370303:p.Lys94Thr		14652297	NM_178566	A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	ENST00000380916.4	37	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728018	0.89390	.	.	ENSG00000175893	ENST00000380916	T	0.24538	1.85	5.8	5.8	0.92144	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	N	0.25060	0.705	0.58432	D	0.999998	D	0.62365	0.991	D	0.74023	0.982	T	0.12656	-1.0539	10	0.39692	T	0.17	-13.6178	15.8121	0.78573	0.0:0.0:0.0:1.0	.	94	Q8IVQ6	ZDH21_HUMAN	T	94	ENSP00000370303:K94T	ENSP00000370303:K94T	K	-	2	0	ZDHHC21	14652297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.077000	0.76814	2.206000	0.71126	0.528000	0.53228	AAG		0.393	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566	
FREM1	158326	broad.mit.edu	37	9	14756379	14756379	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14756379A>G	ENST00000380880.3	-	29	6183	c.5400T>C	c.(5398-5400)ttT>ttC	p.F1800F	FREM1_ENST00000380894.1_Silent_p.F336F|FREM1_ENST00000422223.2_Silent_p.F1800F|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Silent_p.F1801F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1800	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.F1801F(1)|p.F213F(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACCTGGGTCAAACTGAATCA	0.343																																					p.F1800F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T5400C	9						.						57.0	57.0	57.0					9																	14756379		1831	4087	5918	14746379	SO:0001819	synonymous_variant	158326	exon30			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5400T>C	9.37:g.14756379A>G			14746379	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.343	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14759770	14759770	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14759770C>A	ENST00000380880.3	-	28	6117	c.5334G>T	c.(5332-5334)aaG>aaT	p.K1778N	FREM1_ENST00000380894.1_Splice_Site_p.K314N|FREM1_ENST00000422223.2_Splice_Site_p.K1778N|FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000380881.4_Splice_Site_p.K1779N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1778	Calx-beta.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.K1779N(1)|p.K191N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTCATTACCTTTATACCCA	0.363																																					p.K1778N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5334T	9						.						122.0	112.0	115.0					9																	14759770		1829	4088	5917	14749770	SO:0001630	splice_region_variant	158326	exon29			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5334+1G>T	9.37:g.14759770C>A			14749770	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244723	0.59103	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.97	5.06	0.68205	Na-Ca exchanger/integrin-beta4 (1);	0.301984	0.40469	N	0.001089	T	0.49847	0.1581	L	0.61387	1.9	0.43508	D	0.995763	D;D	0.59767	0.986;0.962	P;P	0.60345	0.872;0.873	T	0.48222	-0.9054	9	.	.	.	-10.0521	17.0236	0.86440	0.0:0.8727:0.1273:0.0	.	1778;314	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	N	1779;1778;314;1778;191	ENSP00000370263:K1779N;ENSP00000412940:K1778N;ENSP00000370278:K314N;ENSP00000370262:K1778N	.	K	-	3	2	FREM1	14749770	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	5.240000	0.65378	1.495000	0.48549	0.655000	0.94253	AAG		0.363	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	Missense_Mutation
FREM1	158326	broad.mit.edu	37	9	14801729	14801729	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14801729G>T	ENST00000380880.3	-	20	4398	c.3615C>A	c.(3613-3615)ttC>ttA	p.F1205L	FREM1_ENST00000422223.2_Missense_Mutation_p.F1205L|FREM1_ENST00000380881.4_Missense_Mutation_p.F1206L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1205					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.F1206L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATTCTCAGAGAAGTCTTTGC	0.522																																					p.F1205L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3615A	9						.						149.0	148.0	148.0					9																	14801729		1999	4177	6176	14791729	SO:0001583	missense	158326	exon21			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3615C>A	9.37:g.14801729G>T	ENSP00000370262:p.Phe1205Leu		14791729	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	7.131	0.579927	0.13686	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.49432	0.78;0.78;0.78	5.51	-9.02	0.00741	.	0.927069	0.09265	N	0.825993	T	0.26810	0.0656	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27400	-1.0075	10	0.09843	T	0.71	-0.2519	6.0892	0.19985	0.3258:0.0975:0.4806:0.0961	.	1205	Q5H8C1	FREM1_HUMAN	L	1206;1205;1205	ENSP00000370263:F1206L;ENSP00000412940:F1205L;ENSP00000370262:F1205L	ENSP00000370257:F1208L	F	-	3	2	FREM1	14791729	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.870000	0.04228	-1.613000	0.01577	-0.469000	0.05056	TTC		0.522	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14816814	14816814	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14816814C>T	ENST00000380880.3	-	15	3385	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	FREM1_ENST00000422223.2_Missense_Mutation_p.D868N|FREM1_ENST00000380881.4_Missense_Mutation_p.D869N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	868					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D869N(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTGTGCCATCGgtgacctcc	0.428																																					p.D868N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2602A	9						.						59.0	62.0	61.0					9																	14816814		1857	4098	5955	14806814	SO:0001583	missense	158326	exon16			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2602G>A	9.37:g.14816814C>T	ENSP00000370262:p.Asp868Asn		14806814	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894312	0.72639	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.51325	0.71;0.71;0.71	5.65	5.65	0.86999	.	0.100720	0.64402	D	0.000001	T	0.73426	0.3585	M	0.88704	2.975	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	T	0.77517	-0.2558	10	0.87932	D	0	-21.0074	15.093	0.72211	0.0:1.0:0.0:0.0	.	868	Q5H8C1	FREM1_HUMAN	N	869;868;868	ENSP00000370263:D869N;ENSP00000412940:D868N;ENSP00000370262:D868N	ENSP00000370257:D871N	D	-	1	0	FREM1	14806814	1.000000	0.71417	0.998000	0.56505	0.192000	0.23643	5.014000	0.64029	2.941000	0.99782	0.655000	0.94253	GAT		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14851562	14851562	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14851562G>A	ENST00000380880.3	-	6	1655	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.P291L|FREM1_ENST00000380881.4_Missense_Mutation_p.P292L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	291					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P292L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATCTGATTCGGAATTCCAGC	0.418																																					p.P291L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C872T	9						.						113.0	112.0	112.0					9																	14851562		1923	4134	6057	14841562	SO:0001583	missense	158326	exon7			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.872C>T	9.37:g.14851562G>A	ENSP00000370262:p.Pro291Leu		14841562	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351360	0.95830	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10960	2.82;2.82;2.82	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.02378	-1.1168	10	0.54805	T	0.06	-15.6975	20.7342	0.99715	0.0:0.0:1.0:0.0	.	291	Q5H8C1	FREM1_HUMAN	L	292;291;291	ENSP00000370263:P292L;ENSP00000412940:P291L;ENSP00000370262:P291L	ENSP00000370257:P294L	P	-	2	0	FREM1	14841562	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CCG		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:14863874C>T	ENST00000380880.3	-	3	1045	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	FREM1_ENST00000422223.2_Missense_Mutation_p.E88K|FREM1_ENST00000380881.4_Missense_Mutation_p.E88K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	88					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.E88K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413																																					p.E88K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	9						.						110.0	106.0	108.0					9																	14863874		1949	4140	6089	14853874	SO:0001583	missense	158326	exon4			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.262G>A	9.37:g.14863874C>T	ENSP00000370262:p.Glu88Lys		14853874	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187172	0.94923	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.12255	2.7;2.7;2.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	M	0.75447	2.3	0.58432	D	0.999999	D	0.55172	0.97	B	0.42555	0.391	T	0.05115	-1.0905	10	0.66056	D	0.02	-18.5681	19.8046	0.96525	0.0:1.0:0.0:0.0	.	88	Q5H8C1	FREM1_HUMAN	K	88	ENSP00000370263:E88K;ENSP00000412940:E88K;ENSP00000370262:E88K	ENSP00000370257:E88K	E	-	1	0	FREM1	14853874	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.445000	0.80570	2.748000	0.94277	0.655000	0.94253	GAA		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
TTC39B	158219	broad.mit.edu	37	9	15188039	15188039	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:15188039A>G	ENST00000512701.2	-	14	1361	c.1325T>C	c.(1324-1326)gTt>gCt	p.V442A	TTC39B_ENST00000297615.5_Missense_Mutation_p.V373A|TTC39B_ENST00000507993.1_Missense_Mutation_p.V277A|TTC39B_ENST00000355694.2_Missense_Mutation_p.V376A|TTC39B_ENST00000380850.4_Missense_Mutation_p.V429A|TTC39B_ENST00000507285.1_Missense_Mutation_p.V277A			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	442								p.V376A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTGTTGGAAAACATTAATCCA	0.363																																					p.V429A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1286C	9						.						171.0	161.0	164.0					9																	15188039		2203	4300	6503	15178039	SO:0001583	missense	158219	exon13			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1325T>C	9.37:g.15188039A>G	ENSP00000422496:p.Val442Ala		15178039	NM_001168340	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	A	11.33	1.608234	0.28623	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.58	3.29	0.37713	.	0.604156	0.16068	N	0.231136	T	0.14227	0.0344	N	0.02539	-0.55	0.80722	D	1	B;B;B;B;B	0.23128	0.022;0.009;0.08;0.0;0.0	B;B;B;B;B	0.22880	0.007;0.012;0.042;0.007;0.007	T	0.15607	-1.0431	10	0.09084	T	0.74	-2.5935	4.9803	0.14162	0.6791:0.0:0.3209:0.0	.	373;429;442;374;376	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	A	429;373;376;442;277;277	ENSP00000370231:V429A;ENSP00000297615:V373A;ENSP00000347920:V376A;ENSP00000422496:V442A;ENSP00000426539:V277A;ENSP00000423392:V277A	ENSP00000297615:V373A	V	-	2	0	TTC39B	15178039	1.000000	0.71417	0.018000	0.16275	0.959000	0.62525	6.480000	0.73604	2.120000	0.65058	0.377000	0.23210	GTT		0.363	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
SNAPC3	6619	broad.mit.edu	37	9	15423915	15423915	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:15423915A>C	ENST00000380821.3	+	2	499	c.323A>C	c.(322-324)aAa>aCa	p.K108T	SNAPC3_ENST00000461041.1_3'UTR	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	108					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K108T(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AGCCTTGATAAACTGAAATGC	0.408																																					p.K108T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A323C	9						.						184.0	164.0	171.0					9																	15423915		2203	4300	6503	15413915	SO:0001583	missense	6619	exon2			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.323A>C	9.37:g.15423915A>C	ENSP00000370200:p.Lys108Thr		15413915	NM_001039697	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.551739	0.27739	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.45276	0.9	5.79	4.59	0.56863	.	0.212430	0.49305	D	0.000146	T	0.46737	0.1408	L	0.46157	1.445	0.80722	D	1	D;B	0.63880	0.993;0.006	D;B	0.63033	0.91;0.008	T	0.39313	-0.9620	10	0.09338	T	0.73	-5.9821	8.5057	0.33186	0.8278:0.0:0.0:0.1722	.	79;108	B4DDR9;Q92966	.;SNPC3_HUMAN	T	108;108;79;108	ENSP00000370200:K108T	ENSP00000370185:K108T	K	+	2	0	SNAPC3	15413915	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	2.834000	0.48167	2.208000	0.71279	0.533000	0.62120	AAA		0.408	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
SNAPC3	6619	broad.mit.edu	37	9	15444628	15444628	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:15444628A>C	ENST00000380821.3	+	4	682	c.506A>C	c.(505-507)gAa>gCa	p.E169A	SNAPC3_ENST00000380799.1_5'Flank	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	169					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E169A(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AAAAAGCCTGAAAATTCAGCA	0.363																																					p.E169A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A506C	9						.						117.0	110.0	112.0					9																	15444628		2203	4300	6503	15434628	SO:0001583	missense	6619	exon4			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.506A>C	9.37:g.15444628A>C	ENSP00000370200:p.Glu169Ala		15434628	NM_001039697	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.385037	0.42308	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.46819	0.86	5.35	2.84	0.33178	.	0.460951	0.25211	N	0.032314	T	0.38799	0.1054	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.179	B;B	0.36464	0.225;0.053	T	0.29488	-1.0010	10	0.59425	D	0.04	-9.5194	7.3792	0.26845	0.7802:0.1424:0.0773:0.0	.	140;169	B4DDR9;Q92966	.;SNPC3_HUMAN	A	169;169;140;169	ENSP00000370200:E169A	ENSP00000370185:E169A	E	+	2	0	SNAPC3	15434628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.648000	0.46647	0.969000	0.38237	-0.297000	0.09499	GAA		0.363	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
CCDC171	203238	broad.mit.edu	37	9	15724841	15724841	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:15724841G>A	ENST00000380701.3	+	14	1887	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	CCDC171_ENST00000297641.3_Missense_Mutation_p.R520Q	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	520								p.R520Q(2)									TGTGCAGACCGAGAGGCTTTA	0.393																																					p.R520Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G1559A	9						.						122.0	134.0	130.0					9																	15724841		2203	4300	6503	15714841	SO:0001583	missense	203238	exon14			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1559G>A	9.37:g.15724841G>A	ENSP00000370077:p.Arg520Gln		15714841	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035823	0.75617	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.50001	0.76;0.76	5.42	5.42	0.78866	.	0.327625	0.33401	N	0.004954	T	0.25791	0.0628	N	0.14661	0.345	0.80722	D	1	P;P;P	0.52463	0.953;0.953;0.953	B;B;B	0.39152	0.292;0.292;0.292	T	0.06023	-1.0850	10	0.12103	T	0.63	-11.2819	11.1066	0.48207	0.1433:0.0:0.8567:0.0	.	528;520;520	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	Q	520	ENSP00000297641:R520Q;ENSP00000370077:R520Q	ENSP00000297641:R520Q	R	+	2	0	C9orf93	15714841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.356000	0.44116	2.716000	0.92895	0.650000	0.86243	CGA		0.393	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
CCDC171	203238	broad.mit.edu	37	9	15784546	15784546	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:15784546G>T	ENST00000380701.3	+	21	3449	c.3121G>T	c.(3121-3123)Gaa>Taa	p.E1041*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E1041*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1041								p.E1041*(1)									TGCATGTGAAGAACTAAATAA	0.368																																					p.E1041X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3121T	9						.						85.0	76.0	80.0					9																	15784546		2203	4300	6503	15774546	SO:0001587	stop_gained	203238	exon21			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3121G>T	9.37:g.15784546G>T	ENSP00000370077:p.Glu1041*		15774546	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	ENST00000380701.3	37	CCDS6481.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.105303|12.105303	0.99636|0.99636	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575;ENST00000432954	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.050057|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74581	.|0.3735	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73760	.|-0.3881	.|4	0.42905|.	T|.	0.14|.	-6.7623|-6.7623	18.7422|18.7422	0.91777|0.91777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	1041;308;1041|280;94	.|.	ENSP00000297641:E1041X|.	E|K	+|+	1|3	0|2	C9orf93|C9orf93	15774546|15774546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.437000|7.437000	0.80417|0.80417	2.500000|2.500000	0.84329|0.84329	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.368	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
CNTLN	54875	broad.mit.edu	37	9	17143295	17143295	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:17143295G>A	ENST00000380647.3	+	2	454	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	CNTLN_ENST00000262360.5_Missense_Mutation_p.E124K|CNTLN_ENST00000380641.4_Missense_Mutation_p.E124K|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Missense_Mutation_p.E124K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	124					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.E124K(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCTGATAAAGAATTTGTATG	0.318																																					p.E124K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370A	9						.						162.0	156.0	158.0					9																	17143295		1811	4080	5891	17133295	SO:0001583	missense	54875	exon2			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.370G>A	9.37:g.17143295G>A	ENSP00000370021:p.Glu124Lys		17133295	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239362	0.95240	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.89	5.89	0.94794	.	.	.	.	.	T	0.34395	0.0896	L	0.59436	1.845	0.49582	D	0.999801	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	T	0.00800	-1.1561	9	0.20046	T	0.44	.	19.0291	0.92948	0.0:0.0:1.0:0.0	.	124;124;124;124	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	K	124	ENSP00000370021:E124K;ENSP00000392798:E124K;ENSP00000262360:E124K;ENSP00000370015:E124K	ENSP00000262360:E124K	E	+	1	0	CNTLN	17133295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.570000	0.90748	2.783000	0.95769	0.655000	0.94253	GAA		0.318	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
CNTLN	54875	broad.mit.edu	37	9	17235695	17235695	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:17235695A>C	ENST00000380647.3	+	4	658	c.574A>C	c.(574-576)Aaa>Caa	p.K192Q	CNTLN_ENST00000262360.5_Missense_Mutation_p.K192Q|CNTLN_ENST00000380641.4_Missense_Mutation_p.K192Q|CNTLN_ENST00000425824.1_Missense_Mutation_p.K192Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	192					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K192Q(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TGACCTTGTAAAACGGAAAAT	0.294																																					p.K192Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A574C	9						.						102.0	100.0	100.0					9																	17235695		1799	4060	5859	17225695	SO:0001583	missense	54875	exon4			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.574A>C	9.37:g.17235695A>C	ENSP00000370021:p.Lys192Gln		17225695	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	0.780	-0.762565	0.02996	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.42	4.25	0.50352	.	.	.	.	.	T	0.07369	0.0186	L	0.43923	1.385	0.26226	N	0.979083	B;B;B	0.29988	0.084;0.084;0.264	B;B;B	0.24006	0.04;0.04;0.05	T	0.30357	-0.9981	9	0.08381	T	0.77	.	11.9713	0.53065	0.552:0.448:0.0:0.0	.	192;192;192	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	Q	192	ENSP00000370021:K192Q;ENSP00000392798:K192Q;ENSP00000262360:K192Q;ENSP00000370015:K192Q	ENSP00000262360:K192Q	K	+	1	0	CNTLN	17225695	0.997000	0.39634	0.499000	0.27577	0.058000	0.15608	2.182000	0.42556	0.959000	0.37980	0.528000	0.53228	AAA		0.294	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
CNTLN	54875	broad.mit.edu	37	9	17330716	17330716	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:17330716G>T	ENST00000380647.3	+	9	1512	c.1428G>T	c.(1426-1428)aaG>aaT	p.K476N	CNTLN_ENST00000262360.5_Missense_Mutation_p.K476N|CNTLN_ENST00000425824.1_Missense_Mutation_p.K476N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	476					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K476N(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAACTAAAGATAGCAAATG	0.373																																					p.K476N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1428T	9						.						130.0	126.0	127.0					9																	17330716		1830	4077	5907	17320716	SO:0001583	missense	54875	exon9			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1428G>T	9.37:g.17330716G>T	ENSP00000370021:p.Lys476Asn		17320716	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124638	0.56613	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.36157	1.27;1.27;1.27	5.0	3.77	0.43336	.	.	.	.	.	T	0.53061	0.1773	M	0.69823	2.125	0.32769	N	0.504045	D;P;P	0.76494	0.999;0.933;0.933	D;P;P	0.68943	0.961;0.804;0.804	T	0.60556	-0.7240	9	0.33141	T	0.24	.	8.8139	0.34985	0.8199:0.0:0.1801:0.0	.	476;476;476	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	N	476	ENSP00000370021:K476N;ENSP00000392798:K476N;ENSP00000262360:K476N	ENSP00000262360:K476N	K	+	3	2	CNTLN	17320716	0.993000	0.37304	0.997000	0.53966	0.927000	0.56198	0.630000	0.24553	0.743000	0.32719	-0.355000	0.07637	AAG		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
CNTLN	54875	broad.mit.edu	37	9	17394581	17394581	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:17394581A>C	ENST00000380647.3	+	15	2213	c.2129A>C	c.(2128-2130)aAa>aCa	p.K710T	CNTLN_ENST00000262360.5_Missense_Mutation_p.K710T|CNTLN_ENST00000425824.1_Missense_Mutation_p.K710T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	710					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.K710T(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGTCGAGAAAATTAAAAGAA	0.308																																					p.K710T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2129C	9						.						27.0	25.0	26.0					9																	17394581		1781	4046	5827	17384581	SO:0001583	missense	54875	exon15			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2129A>C	9.37:g.17394581A>C	ENSP00000370021:p.Lys710Thr		17384581	NM_017738	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.498840	0.26861	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.19669	2.13;2.13;2.39	5.37	4.19	0.49359	.	.	.	.	.	T	0.33962	0.0881	M	0.64997	1.995	0.27218	N	0.959735	D;P;P	0.67145	0.996;0.95;0.95	D;P;P	0.63793	0.918;0.571;0.571	T	0.14811	-1.0459	9	0.18276	T	0.48	.	6.099	0.20037	0.7738:0.0:0.0851:0.1411	.	710;710;710	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	710	ENSP00000370021:K710T;ENSP00000392798:K710T;ENSP00000262360:K710T	ENSP00000262360:K710T	K	+	2	0	CNTLN	17384581	1.000000	0.71417	0.987000	0.45799	0.780000	0.44128	2.091000	0.41691	0.835000	0.34877	-0.417000	0.06048	AAA		0.308	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738	
FAM154A	158297	broad.mit.edu	37	9	18928824	18928824	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:18928824C>A	ENST00000380534.4	-	4	930	c.651G>T	c.(649-651)gaG>gaT	p.E217D	FAM154A_ENST00000542071.1_Missense_Mutation_p.E25D|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	217								p.E217D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CAAAGCGCTTCTCCACGGGGT	0.517																																					p.E217D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G651T	9						.						99.0	101.0	101.0					9																	18928824		2203	4300	6503	18918824	SO:0001583	missense	158297	exon4			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.651G>T	9.37:g.18928824C>A	ENSP00000369907:p.Glu217Asp		18918824	NM_153707	Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935250	0.73442	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.16597	2.33;2.33	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000020	T	0.40171	0.1106	M	0.77820	2.39	0.37610	D	0.920903	D	0.76494	0.999	D	0.72338	0.977	T	0.41875	-0.9484	10	0.59425	D	0.04	-27.6989	10.7665	0.46297	0.0:0.913:0.0:0.087	.	217	Q8IYX7	F154A_HUMAN	D	217;25	ENSP00000369907:E217D;ENSP00000438823:E25D	ENSP00000369907:E217D	E	-	3	2	FAM154A	18918824	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.670000	0.37502	2.640000	0.89533	0.650000	0.86243	GAG		0.517	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707	
PLIN2	123	broad.mit.edu	37	9	19118436	19118436	+	Missense_Mutation	SNP	C	C	A	rs373365753		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:19118436C>A	ENST00000276914.2	-	7	974	c.795G>T	c.(793-795)aaG>aaT	p.K265N	PLIN2_ENST00000411567.1_Missense_Mutation_p.K184N	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	265					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K265N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TATACACATTCTTCCTGGCAA	0.398																																					p.K265N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G795T	9						.	C	ASN/LYS	0,4406		0,0,2203	100.0	91.0	94.0		795	3.8	1.0	9		94	2,8598	2.2+/-6.3	0,2,4298	no	missense	PLIN2	NM_001122.3	94	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	benign	265/438	19118436	2,13004	2203	4300	6503	19108436	SO:0001583	missense	123	exon7			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.795G>T	9.37:g.19118436C>A	ENSP00000276914:p.Lys265Asn		19108436	NM_001122	Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374172	0.42105	0.0	2.33E-4	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.06371	3.31;3.31	5.77	3.84	0.44239	.	0.322809	0.33477	N	0.004870	T	0.12390	0.0301	M	0.82517	2.595	0.48236	D	0.999617	B	0.24618	0.107	B	0.35413	0.202	T	0.01993	-1.1233	10	0.31617	T	0.26	.	7.2755	0.26281	0.0:0.7108:0.1372:0.152	.	265	Q99541	PLIN2_HUMAN	N	184;265	ENSP00000415270:K184N;ENSP00000276914:K265N	ENSP00000276914:K265N	K	-	3	2	PLIN2	19108436	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.548000	0.45794	0.709000	0.31976	-0.355000	0.07637	AAG		0.398	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
DENND4C	55667	broad.mit.edu	37	9	19346864	19346864	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:19346864G>A	ENST00000380432.2	+	18	3275	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	DENND4C_ENST00000434457.2_Missense_Mutation_p.R1366Q|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1317Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1081					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1081Q(2)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCCCCTCTCGAACTCATAAA	0.473																																					p.R1081Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3242A	9						.						66.0	66.0	66.0					9																	19346864		2203	4300	6503	19336864	SO:0001583	missense	55667	exon18			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3242G>A	9.37:g.19346864G>A	ENSP00000369797:p.Arg1081Gln		19336864	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	15.32	2.797864	0.50208	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.57273	0.41;0.41	5.46	5.46	0.80206	.	2.078500	0.01775	N	0.031421	T	0.56920	0.2018	L	0.59436	1.845	0.20074	N	0.999935	P;B;P;P	0.36048	0.534;0.36;0.534;0.47	B;B;B;B	0.35727	0.209;0.028;0.209;0.024	T	0.51996	-0.8634	10	0.27785	T	0.31	-9.5114	14.5143	0.67809	0.0725:0.0:0.9275:0.0	.	411;1081;263;1081	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	Q	1081;554;263;411;554;263;78	ENSP00000305795:R554Q;ENSP00000443804:R411Q	ENSP00000305795:R554Q	R	+	2	0	DENND4C	19336864	0.978000	0.34361	0.015000	0.15790	0.962000	0.63368	2.299000	0.43611	2.564000	0.86499	0.585000	0.79938	CGA		0.473	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
MLLT3	4300	broad.mit.edu	37	9	20363483	20363483	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:20363483C>T	ENST00000380338.4	-	7	1608	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.R438Q|MLLT3_ENST00000355930.6_Missense_Mutation_p.R35Q|MLLT3_ENST00000380321.1_Missense_Mutation_p.R35Q	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	441					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R441Q(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CCTGCGACTTCGGCTGCCTCC	0.468			T	MLL	ALL																																p.R441Q			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322A	9						.						149.0	130.0	137.0					9																	20363483		2203	4300	6503	20353483	SO:0001583	missense	4300	exon7			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1322G>A	9.37:g.20363483C>T	ENSP00000369695:p.Arg441Gln		20353483	NM_004529	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343300	0.61073	.	.	ENSG00000171843	ENST00000380338;ENST00000355930;ENST00000380323;ENST00000429426;ENST00000540751;ENST00000380321	.	.	.	5.49	5.49	0.81192	.	0.059997	0.64402	D	0.000005	T	0.73305	0.3570	L	0.46157	1.445	0.50313	D	0.999863	D;P	0.64830	0.994;0.48	P;B	0.61201	0.885;0.034	T	0.74124	-0.3766	9	0.62326	D	0.03	-7.049	19.7332	0.96192	0.0:1.0:0.0:0.0	.	438;441	B7Z755;P42568	.;AF9_HUMAN	Q	441;35;35;438;480;35	.	ENSP00000348196:R35Q	R	-	2	0	MLLT3	20353483	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.873000	0.69644	2.735000	0.93741	0.643000	0.83706	CGA		0.468	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529	
FOCAD	54914	broad.mit.edu	37	9	20820345	20820345	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:20820345G>A	ENST00000380249.1	+	15	1947	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.R528Q|FOCAD_ENST00000605086.1_5'UTR	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	528						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.R528Q(1)									CAAATTCTACGAATAATACAA	0.378																																					p.R528Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1583A	9						.						100.0	95.0	97.0					9																	20820345		2203	4300	6503	20810345	SO:0001583	missense	54914	exon15			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1583G>A	9.37:g.20820345G>A	ENSP00000369599:p.Arg528Gln		20810345	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975139	0.34848	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.20069	2.1;2.1	5.65	5.65	0.86999	Domain of unknown function DUF3730 (1);	0.264640	0.39274	N	0.001407	T	0.21801	0.0525	N	0.20685	0.6	0.43000	D	0.994513	D	0.56968	0.978	P	0.47251	0.542	T	0.01215	-1.1416	10	0.44086	T	0.13	-14.8233	19.7777	0.96400	0.0:0.0:1.0:0.0	.	528	Q5VW36	K1797_HUMAN	Q	528	ENSP00000369599:R528Q;ENSP00000344307:R528Q	ENSP00000344307:R528Q	R	+	2	0	KIAA1797	20810345	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.759000	0.55227	2.669000	0.90835	0.644000	0.83932	CGA		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
IFNA10	3446	broad.mit.edu	37	9	21207035	21207035	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:21207035G>T	ENST00000357374.2	-	1	107	c.62C>A	c.(61-63)tCt>tAt	p.S21Y		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	21					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S21Y(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ACAGCCTAGAGAACAGATGGA	0.493																																					p.S21Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C62A	9						.						46.0	58.0	54.0					9																	21207035		2202	4297	6499	21197035	SO:0001583	missense	3446	exon1				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.62C>A	9.37:g.21207035G>T	ENSP00000369566:p.Ser21Tyr		21197035	NM_002171	Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	11.37	1.618452	0.28801	.	.	ENSG00000186803	ENST00000357374	T	0.05717	3.4	3.65	1.69	0.24217	Four-helical cytokine-like, core (1);	0.574821	0.16675	N	0.204194	T	0.15869	0.0382	M	0.93720	3.45	0.09310	N	1	B	0.26775	0.159	B	0.27262	0.078	T	0.10520	-1.0626	10	0.72032	D	0.01	.	11.1174	0.48268	0.0:0.3591:0.6409:0.0	.	21	P01566	IFN10_HUMAN	Y	21	ENSP00000369566:S21Y	ENSP00000369566:S21Y	S	-	2	0	IFNA10	21197035	0.000000	0.05858	0.008000	0.14137	0.329000	0.28539	0.090000	0.15025	0.139000	0.18822	0.499000	0.49734	TCT		0.493	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
IFNA14	3448	broad.mit.edu	37	9	21239629	21239629	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:21239629C>T	ENST00000380222.2	-	1	349	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	102					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.E102E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTAGGAGGGTCTCATCCCAAG	0.473																																					p.E102E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	9						.						111.0	114.0	113.0					9																	21239629		2203	4300	6503	21229629	SO:0001819	synonymous_variant	3448	exon1				CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.306G>A	9.37:g.21239629C>T			21229629	NM_002172	Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	CCDS6501.1																																																																																				0.473	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172	
KLHL9	55958	broad.mit.edu	37	9	21333736	21333736	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:21333736G>A	ENST00000359039.4	-	1	1643	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	KLHL9_ENST00000537938.1_Missense_Mutation_p.R307W			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	375					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.R375W(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTATTATACCGAGGATCAAAT	0.383																																					p.R375W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123T	9						.						80.0	80.0	80.0					9																	21333736		2203	4300	6503	21323736	SO:0001583	missense	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1123C>T	9.37:g.21333736G>A	ENSP00000351933:p.Arg375Trp		21323736	NM_018847	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478664	0.63849	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.79141	-1.24;-1.24	4.67	4.67	0.58626	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	U	0.000000	D	0.89157	0.6635	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91079	0.4898	10	0.72032	D	0.01	.	15.4698	0.75432	0.0:0.0:1.0:0.0	.	375	Q9P2J3	KLHL9_HUMAN	W	375;307	ENSP00000351933:R375W;ENSP00000437733:R307W	ENSP00000351933:R375W	R	-	1	2	KLHL9	21323736	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.512000	0.73737	2.319000	0.78375	0.650000	0.86243	CGG		0.383	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
IFNA2	3440	broad.mit.edu	37	9	21384886	21384886	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:21384886C>A	ENST00000380206.2	-	1	510	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	148					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)	p.R148I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAGAGTGATTCTTTGGAAGTA	0.468																																					p.R148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443T	9						.						205.0	205.0	205.0					9																	21384886		2203	4300	6503	21374886	SO:0001583	missense	3440	exon1				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.443G>T	9.37:g.21384886C>A	ENSP00000369554:p.Arg148Ile		21374886	NM_000605	H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498628	0.64298	.	.	ENSG00000188379	ENST00000380206	T	0.51574	0.7	3.24	3.24	0.37175	.	0.318425	0.33631	N	0.004718	T	0.72875	0.3515	H	0.94542	3.55	0.20873	N	0.99984	D	0.60160	0.987	D	0.64687	0.928	T	0.67360	-0.5690	10	0.87932	D	0	.	11.4477	0.50134	0.0:1.0:0.0:0.0	.	148	Q6DJX8	.	I	148	ENSP00000369554:R148I	ENSP00000369554:R148I	R	-	2	0	IFNA2	21374886	0.001000	0.12720	0.048000	0.18961	0.509000	0.34042	1.217000	0.32455	1.648000	0.50643	0.484000	0.47621	AGA		0.468	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605	
IFNE	338376	broad.mit.edu	37	9	21481453	21481453	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:21481453G>T	ENST00000448696.3	-	1	859	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	81					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L81I(1)		large_intestine(2)|lung(1)|skin(1)	4						ATCTCATGGAGAATGGCCAGA	0.453																																					p.L81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C241A	9						.						93.0	86.0	89.0					9																	21481453		2203	4300	6503	21471453	SO:0001583	missense	338376	exon1			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.241C>A	9.37:g.21481453G>T	ENSP00000418018:p.Leu81Ile		21471453	NM_176891		Missense_Mutation	SNP	ENST00000448696.3	37	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	G	6.272	0.418298	0.11870	.	.	ENSG00000184995	ENST00000448696	T	0.03717	3.83	4.71	0.124	0.14714	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.894418	0.09332	U	0.816669	T	0.04543	0.0124	L	0.43701	1.375	0.09310	N	1	B	0.23185	0.081	B	0.26094	0.066	T	0.41288	-0.9517	10	0.66056	D	0.02	.	7.6471	0.28327	0.0:0.2671:0.3253:0.4075	.	81	Q86WN2	IFNE_HUMAN	I	81	ENSP00000418018:L81I	ENSP00000418018:L81I	L	-	1	0	IFNE	21471453	0.068000	0.21057	0.481000	0.27354	0.040000	0.13550	0.166000	0.16583	0.217000	0.20800	0.655000	0.94253	CTC		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891	
ELAVL2	1993	broad.mit.edu	37	9	23762156	23762156	+	Missense_Mutation	SNP	G	G	A	rs146832864	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:23762156G>A	ENST00000397312.2	-	2	351	c.77C>T	c.(76-78)tCg>tTg	p.S26L	ELAVL2_ENST00000223951.6_Missense_Mutation_p.S26L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S26L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S26L|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S55L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	26					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S26L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACTGGTGACGAACAGTTGTT	0.433																																					p.S26L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C77T	9						.	G	LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	333.0	305.0	315.0		77,77,77	5.9	1.0	9	dbSNP_134	315	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ELAVL2	NM_001171195.1,NM_001171197.1,NM_004432.3	145,145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	26/347,26/347,26/360	23762156	2,13004	2203	4300	6503	23752156	SO:0001583	missense	1993	exon2			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.77C>T	9.37:g.23762156G>A	ENSP00000380479:p.Ser26Leu		23752156	NM_001171197	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469605	0.63625	2.27E-4	1.16E-4	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.15372	2.43;2.84;2.84;2.84;2.78	5.92	5.92	0.95590	.	0.067483	0.64402	D	0.000008	T	0.12603	0.0306	N	0.14661	0.345	0.80722	D	1	B;B	0.31100	0.308;0.24	B;B	0.25759	0.018;0.063	T	0.11891	-1.0569	10	0.33940	T	0.23	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	26;26	Q12926;Q12926-2	ELAV2_HUMAN;.	L	26;26;26;26;26;54;26	ENSP00000223951:S26L;ENSP00000380479:S26L;ENSP00000440998:S26L;ENSP00000369460:S26L;ENSP00000412602:S26L	ENSP00000223951:S26L	S	-	2	0	ELAVL2	23752156	1.000000	0.71417	0.966000	0.40874	0.969000	0.65631	9.714000	0.98744	2.810000	0.96702	0.585000	0.79938	TCG		0.433	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	
IFNK	56832	broad.mit.edu	37	9	27524857	27524857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:27524857G>T	ENST00000276943.2	+	1	546	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	175					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of cell proliferation (GO:0008285)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of transcription, DNA-templated (GO:0006355)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.E175*(1)		large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		TTTCCTGAAAGAAAAGAAATA	0.418																																					p.E175X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G523T	9						.						50.0	53.0	52.0					9																	27524857		2203	4300	6503	27514857	SO:0001587	stop_gained	56832	exon1			AF384048	CCDS6521.1	9p21.2	2008-02-05			ENSG00000147896	ENSG00000147896		"""Interferons"""	21714	protein-coding gene	gene with protein product		615326				12391192, 11514542	Standard	NM_020124		Approved		uc003zqp.3	Q9P0W0	OTTHUMG00000019715	ENST00000276943.2:c.523G>T	9.37:g.27524857G>T	ENSP00000276943:p.Glu175*		27514857	NM_020124	Q5T166	Nonsense_Mutation	SNP	ENST00000276943.2	37	CCDS6521.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624814	0.96660	.	.	ENSG00000147896	ENST00000276943	.	.	.	6.07	4.96	0.65561	.	0.532630	0.19438	N	0.114268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.6435	8.8802	0.35370	0.1327:0.0:0.8673:0.0	.	.	.	.	X	175	.	ENSP00000276943:E175X	E	+	1	0	IFNK	27514857	0.599000	0.26891	0.870000	0.34147	0.968000	0.65278	1.855000	0.39378	1.234000	0.43709	0.650000	0.86243	GAA		0.418	IFNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051968.1	NM_020124	
LINGO2	158038	broad.mit.edu	37	9	27950633	27950633	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:27950633G>T	ENST00000379992.2	-	6	486	c.37C>A	c.(37-39)Ctg>Atg	p.L13M	LINGO2_ENST00000308675.3_Missense_Mutation_p.L13M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	13						integral component of membrane (GO:0016021)		p.L13M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCAGACCCAGGAATGGCTGC	0.537																																					p.L13M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C37A	9						.						67.0	54.0	58.0					9																	27950633		2203	4300	6503	27940633	SO:0001583	missense	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.37C>A	9.37:g.27950633G>T	ENSP00000369328:p.Leu13Met		27940633	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634449	0.87660	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.60920	0.15;0.15	5.74	5.74	0.90152	.	0.154753	0.44483	D	0.000446	T	0.72985	0.3529	M	0.76574	2.34	0.80722	D	1	P	0.49090	0.919	P	0.55161	0.77	T	0.71206	-0.4661	9	.	.	.	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	13	Q7L985	LIGO2_HUMAN	M	13	ENSP00000369328:L13M;ENSP00000310126:L13M	.	L	-	1	2	LINGO2	27940633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.717000	0.74707	2.873000	0.98535	0.561000	0.74099	CTG		0.537	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
DDX58	23586	broad.mit.edu	37	9	32466353	32466353	+	Nonsense_Mutation	SNP	C	C	A	rs553716308	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32466353C>A	ENST00000379883.2	-	16	2429	c.2272G>T	c.(2272-2274)Gaa>Taa	p.E758*	DDX58_ENST00000379868.1_Nonsense_Mutation_p.E555*|DDX58_ENST00000542096.1_Nonsense_Mutation_p.E687*|DDX58_ENST00000379882.1_Nonsense_Mutation_p.E713*	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	758	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.|Repressor domain.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.E758*(1)|p.E758K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		ATCATTTTTTCTTTGTACATG	0.368													C|||	4	0.000798722	0.0	0.0	5008	,	,		18582	0.0		0.0	False		,,,				2504	0.0041				p.E758X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G2272T	9						.						208.0	194.0	199.0					9																	32466353		2203	4300	6503	32456353	SO:0001587	stop_gained	23586	exon16			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2272G>T	9.37:g.32466353C>A	ENSP00000369213:p.Glu758*		32456353	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Nonsense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	43	9.933314	0.99299	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096	.	.	.	5.45	5.45	0.79879	.	0.150289	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.3592	18.4259	0.90608	0.0:1.0:0.0:0.0	.	.	.	.	X	713;758;555;687	.	ENSP00000369197:E555X	E	-	1	0	DDX58	32456353	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	3.942000	0.56614	2.725000	0.93324	0.655000	0.94253	GAA		0.368	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314	
DDX58	23586	broad.mit.edu	37	9	32493818	32493818	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32493818C>T	ENST00000379883.2	-	3	521	c.364G>A	c.(364-366)Gat>Aat	p.D122N	DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000542096.1_Missense_Mutation_p.D51N|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379882.1_Missense_Mutation_p.D77N	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	122	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.D122N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GAAATGATATCGGTTGGGATA	0.279																																					p.D122N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	9						.						54.0	60.0	58.0					9																	32493818		2200	4295	6495	32483818	SO:0001583	missense	23586	exon3			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.364G>A	9.37:g.32493818C>T	ENSP00000369213:p.Asp122Asn		32483818	NM_014314	A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012784	0.19277	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.05925	3.5;3.51;3.37	4.33	3.41	0.39046	.	0.297626	0.25830	N	0.028030	T	0.10809	0.0264	M	0.70595	2.14	0.21579	N	0.999631	D;P;P	0.53312	0.959;0.931;0.931	P;B;B	0.45406	0.479;0.286;0.227	T	0.11131	-1.0600	10	0.62326	D	0.03	-2.1414	9.435	0.38632	0.1609:0.6827:0.1563:0.0	.	77;51;122	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	N	77;122;51;122	ENSP00000369212:D77N;ENSP00000369213:D122N;ENSP00000442160:D51N	ENSP00000369212:D77N	D	-	1	0	DDX58	32483818	0.034000	0.19679	0.173000	0.22940	0.084000	0.17831	1.658000	0.37376	1.386000	0.46466	0.650000	0.86243	GAT		0.279	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314	
TOPORS	10210	broad.mit.edu	37	9	32542594	32542594	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32542594T>G	ENST00000360538.2	-	3	2045	c.1929A>C	c.(1927-1929)aaA>aaC	p.K643N	TOPORS_ENST00000379858.1_Missense_Mutation_p.K578N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	643	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K643N(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTGATCTCTTTTTGTCTCTTC	0.418																																					p.K578N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1734C	9						.						384.0	358.0	367.0					9																	32542594		2203	4300	6503	32532594	SO:0001583	missense	10210	exon2			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1929A>C	9.37:g.32542594T>G	ENSP00000353735:p.Lys643Asn		32532594	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672682	0.29693	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18338	2.22;2.28	6.16	0.801	0.18679	.	0.000000	0.53938	D	0.000051	T	0.11324	0.0276	N	0.19112	0.55	0.35127	D	0.767551	P	0.50272	0.933	P	0.44860	0.462	T	0.27191	-1.0081	10	0.32370	T	0.25	-12.627	10.0577	0.42255	0.0:0.3728:0.0:0.6272	.	643	Q9NS56	TOPRS_HUMAN	N	643;578	ENSP00000353735:K643N;ENSP00000369187:K578N	ENSP00000353735:K643N	K	-	3	2	TOPORS	32532594	0.963000	0.33076	1.000000	0.80357	0.874000	0.50279	0.172000	0.16704	0.201000	0.20466	0.528000	0.53228	AAA		0.418	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TAF1L	138474	broad.mit.edu	37	9	32631214	32631214	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32631214T>G	ENST00000242310.4	-	1	4453	c.4364A>C	c.(4363-4365)aAa>aCa	p.K1455T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1455	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K1455T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTAGAGGCATTTACGCACATT	0.453																																					p.K1455T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4364C	9						.						249.0	210.0	223.0					9																	32631214		2203	4300	6503	32621214	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4364A>C	9.37:g.32631214T>G	ENSP00000418379:p.Lys1455Thr		32621214	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046558	0.75846	.	.	ENSG00000122728	ENST00000242310	T	0.29655	1.56	1.17	1.17	0.20885	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.48642	1.525	0.48696	D	0.99969	B	0.23591	0.088	B	0.26094	0.066	T	0.05146	-1.0903	10	0.44086	T	0.13	.	6.3927	0.21595	0.0:0.0:0.0:1.0	.	1455	Q8IZX4	TAF1L_HUMAN	T	1455	ENSP00000418379:K1455T	ENSP00000418379:K1455T	K	-	2	0	TAF1L	32621214	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	3.651000	0.54431	0.431000	0.26258	0.172000	0.16884	AAA		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32632006	32632006	+	Missense_Mutation	SNP	C	C	T	rs199906668		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32632006C>T	ENST00000242310.4	-	1	3661	c.3572G>A	c.(3571-3573)cGa>cAa	p.R1191Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1191					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1191Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCTTCATCTCGAAATGTGCG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		24069	0.0		0.001	False		,,,				2504	0.0				p.R1191Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3572A	9						.	C	GLN/ARG	0,4406		0,0,2203	204.0	166.0	179.0		3572	0.5	1.0	9		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1191/1827	32632006	1,13005	2203	4300	6503	32622006	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3572G>A	9.37:g.32632006C>T	ENSP00000418379:p.Arg1191Gln		32622006	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756229	0.49362	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.17213	2.29	0.479	0.479	0.16796	.	0.200519	0.46442	D	0.000285	T	0.11239	0.0274	L	0.38175	1.15	0.38657	D	0.951982	B	0.22746	0.074	B	0.23150	0.044	T	0.12811	-1.0533	10	0.33940	T	0.23	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1191	Q8IZX4	TAF1L_HUMAN	Q	1191	ENSP00000418379:R1191Q	ENSP00000418379:R1191Q	R	-	2	0	TAF1L	32622006	0.998000	0.40836	0.997000	0.53966	0.826000	0.46750	1.734000	0.38166	0.507000	0.28148	0.195000	0.17529	CGA		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32634895	32634895	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32634895G>A	ENST00000242310.4	-	1	772	c.683C>T	c.(682-684)aCc>aTc	p.T228I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	228					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.T228I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAATGGAAGGGTCAGCTTTCC	0.473																																					p.T228I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	9						.						143.0	131.0	135.0					9																	32634895		2203	4300	6503	32624895	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.683C>T	9.37:g.32634895G>A	ENSP00000418379:p.Thr228Ile		32624895	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832243	0.16820	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	1.04	1.04	0.20106	.	0.101306	0.64402	D	0.000002	T	0.08582	0.0213	L	0.57536	1.79	0.33675	D	0.611367	B	0.20887	0.049	B	0.19946	0.027	T	0.06789	-1.0807	10	0.41790	T	0.15	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	228	Q8IZX4	TAF1L_HUMAN	I	228	ENSP00000418379:T228I	ENSP00000418379:T228I	T	-	2	0	TAF1L	32624895	1.000000	0.71417	0.732000	0.30844	0.279000	0.26890	3.452000	0.52971	0.507000	0.28148	0.195000	0.17529	ACC		0.473	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32634963	32634963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:32634963G>T	ENST00000242310.4	-	1	704	c.615C>A	c.(613-615)taC>taA	p.Y205*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	205					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Y205*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAATCAGAGTAACTACTGA	0.468																																					p.Y205X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C615A	9						.						135.0	122.0	126.0					9																	32634963		2203	4300	6503	32624963	SO:0001587	stop_gained	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.615C>A	9.37:g.32634963G>T	ENSP00000418379:p.Tyr205*		32624963	NM_153809	Q0VG57	Nonsense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505154	0.44558	.	.	ENSG00000122728	ENST00000242310	.	.	.	1.04	-0.053	0.13820	.	0.174579	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9434	0.13976	0.2731:0.0:0.7269:0.0	.	.	.	.	X	205	.	ENSP00000418379:Y205X	Y	-	3	2	TAF1L	32624963	1.000000	0.71417	0.790000	0.31976	0.284000	0.27059	0.412000	0.21131	0.507000	0.28148	0.195000	0.17529	TAC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
DNAJA1	3301	broad.mit.edu	37	9	33026823	33026823	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33026823T>G	ENST00000330899.4	+	3	328	c.145T>G	c.(145-147)Tct>Gct	p.S49A	DNAJA1_ENST00000495015.1_Intron|APTX_ENST00000473270.1_5'Flank|DNAJA1_ENST00000544625.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	49	J.				androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S49A(1)		large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TAAACAGATTTCTCAAGCTTA	0.378																																					p.S49A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T145G	9						.						59.0	65.0	63.0					9																	33026823		2203	4300	6503	33016823	SO:0001583	missense	3301	exon3			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.145T>G	9.37:g.33026823T>G	ENSP00000369127:p.Ser49Ala		33016823	NM_001539	Q5T7Q0|Q86TL9	Missense_Mutation	SNP	ENST00000330899.4	37	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748187	0.69533	.	.	ENSG00000086061	ENST00000330899	T	0.30981	1.51	4.67	4.67	0.58626	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.33265	0.0857	L	0.34521	1.04	0.80722	D	1	P;P	0.49783	0.928;0.928	P;P	0.51999	0.687;0.687	T	0.03278	-1.1053	10	0.34782	T	0.22	-11.1688	12.3554	0.55171	0.0:0.0:0.0:1.0	.	49;49	Q86TL9;P31689	.;DNJA1_HUMAN	A	49	ENSP00000369127:S49A	ENSP00000369127:S49A	S	+	1	0	DNAJA1	33016823	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.947000	0.87758	1.874000	0.54306	0.379000	0.24179	TCT		0.378	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1		
CHMP5	51510	broad.mit.edu	37	9	33266076	33266076	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33266076G>T	ENST00000223500.8	+	2	275	c.138G>T	c.(136-138)aaG>aaT	p.K46N	CHMP5_ENST00000419016.2_Missense_Mutation_p.K46N|BAG1_ENST00000472232.3_5'Flank|BAG1_ENST00000379704.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	46					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K46N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGAAGTATAAGGATCAGATCA	0.448																																					p.K46N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	9						.						84.0	76.0	79.0					9																	33266076		2203	4300	6503	33256076	SO:0001583	missense	51510	exon2			AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.138G>T	9.37:g.33266076G>T	ENSP00000223500:p.Lys46Asn		33256076	NM_001195536	B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.72505	-0.66;-0.66	5.56	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.88512	2.96	0.47994	D	0.999568	D;B	0.67145	0.996;0.45	D;P	0.68353	0.957;0.547	D	0.84433	0.0578	10	0.87932	D	0	-2.8598	9.9384	0.41565	0.2671:0.0:0.7329:0.0	.	46;46	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	N	46	ENSP00000223500:K46N;ENSP00000442725:K46N	ENSP00000223500:K46N	K	+	3	2	CHMP5	33256076	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.165000	0.31822	0.719000	0.32188	0.462000	0.41574	AAG		0.448	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410	
NFX1	4799	broad.mit.edu	37	9	33294529	33294529	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33294529G>T	ENST00000379540.3	+	2	199	c.137G>T	c.(136-138)aGa>aTa	p.R46I	NFX1_ENST00000318524.6_Missense_Mutation_p.R46I|NFX1_ENST00000379521.4_Missense_Mutation_p.R46I	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	46					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R46I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATTGGTAGAAGAAATTACAGT	0.413																																					p.R46I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137T	9						.						138.0	144.0	142.0					9																	33294529		2203	4300	6503	33284529	SO:0001583	missense	4799	exon2			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.137G>T	9.37:g.33294529G>T	ENSP00000368856:p.Arg46Ile		33284529	NM_147134	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089515	0.76756	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.30448	1.9;1.58;1.53	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.34521	1.04	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.999;0.994;0.962;0.999	T	0.44682	-0.9312	10	0.87932	D	0	.	16.7231	0.85415	0.0:0.0:1.0:0.0	.	46;46;46;46	F5GXD0;Q12986;Q12986-2;Q12986-3	.;NFX1_HUMAN;.;.	I	46	ENSP00000368856:R46I;ENSP00000368836:R46I;ENSP00000317695:R46I	ENSP00000317695:R46I	R	+	2	0	NFX1	33284529	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.698000	0.74608	2.528000	0.85240	0.544000	0.68410	AGA		0.413	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
NFX1	4799	broad.mit.edu	37	9	33295406	33295406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33295406G>T	ENST00000379540.3	+	2	1076	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	NFX1_ENST00000318524.6_Missense_Mutation_p.K338N|NFX1_ENST00000379521.4_Missense_Mutation_p.K338N	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	338					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K338N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATGTGCTAAAGAATGTGGAAA	0.373																																					p.K338N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1014T	9						.						64.0	62.0	63.0					9																	33295406		2203	4300	6503	33285406	SO:0001583	missense	4799	exon2			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1014G>T	9.37:g.33295406G>T	ENSP00000368856:p.Lys338Asn		33285406	NM_147134	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657214	0.47467	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.51574	0.7;0.7;0.7	5.91	3.66	0.41972	.	0.106915	0.64402	D	0.000010	T	0.62392	0.2424	M	0.72118	2.19	0.45284	D	0.998284	D;D;P;D;P	0.71674	0.998;0.99;0.572;0.998;0.858	D;P;B;D;P	0.68621	0.959;0.697;0.122;0.959;0.491	T	0.62158	-0.6913	10	0.40728	T	0.16	.	10.1027	0.42515	0.1953:0.0:0.8047:0.0	.	338;222;338;338;338	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	N	338	ENSP00000368856:K338N;ENSP00000368836:K338N;ENSP00000317695:K338N	ENSP00000317695:K338N	K	+	3	2	NFX1	33285406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	1.413000	0.46997	0.643000	0.83706	AAG		0.373	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
AQP3	360	broad.mit.edu	37	9	33443768	33443768	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33443768G>T	ENST00000297991.4	-	2	311	c.231C>A	c.(229-231)gtC>gtA	p.V77V	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	77					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.V77V(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CCTTACCAGAGACCTGGCCAG	0.607																																					p.V77V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231A	9						.						55.0	48.0	50.0					9																	33443768		2203	4300	6503	33433768	SO:0001819	synonymous_variant	360	exon2				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.231C>A	9.37:g.33443768G>T			33433768	NM_004925	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Silent	SNP	ENST00000297991.4	37	CCDS6542.1																																																																																				0.607	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052055.1	NM_004925	
UBE2R2	54926	broad.mit.edu	37	9	33922582	33922582	+	IGR	SNP	G	G	A	rs138140692		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33922582G>A	ENST00000263228.3	+	0	4075				UBAP2_ENST00000539807.1_Missense_Mutation_p.R849C|UBAP2_ENST00000449054.1_Missense_Mutation_p.R1094C|UBAP2_ENST00000379238.1_Missense_Mutation_p.R1094C|UBAP2_ENST00000379239.4_Missense_Mutation_p.R827C|UBAP2_ENST00000360802.1_Missense_Mutation_p.R1094C|UBAP2_ENST00000379235.1_Missense_Mutation_p.R333C	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.R1094C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		GGCTGGCTGCGCTGACCCGAG	0.602											OREG0019144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R1094C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3280T	9						.	G	CYS/ARG	0,4406		0,0,2203	39.0	40.0	40.0		3280	6.2	1.0	9	dbSNP_134	40	2,8598	2.2+/-6.3	0,2,4298	yes	missense	UBAP2	NM_018449.2	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1094/1120	33922582	2,13004	2203	4300	6503	33912582	SO:0001628	intergenic_variant	55833	exon29			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"""Ubiquitin-conjugating enzymes E2"""	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33922582G>A		843	33912582	NM_018449	D3DRL5|Q9NX64	Missense_Mutation	SNP	ENST00000263228.3	37	CCDS6546.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412542	0.62511	0.0	2.33E-4	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	6.17	6.17	0.99709	.	0.091243	0.85682	D	0.000000	T	0.71542	0.3352	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.66196	0.917;0.917;0.942;0.877	T	0.72959	-0.4133	10	0.87932	D	0	-9.9635	19.8676	0.96824	0.0:0.0:1.0:0.0	.	849;827;1003;1094	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	C	1094;1094;1094;1003;333;827;849;528	ENSP00000368540:R1094C;ENSP00000416932:R1094C;ENSP00000354039:R1094C;ENSP00000368537:R333C;ENSP00000368541:R827C;ENSP00000439329:R849C	ENSP00000259602:R528C	R	-	1	0	UBAP2	33912582	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.126000	0.71635	2.941000	0.99782	0.655000	0.94253	CGC		0.602	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052118.1	NM_017811	
UBAP2	55833	broad.mit.edu	37	9	33956100	33956100	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:33956100C>A	ENST00000379238.1	-	11	960	c.843G>T	c.(841-843)gaG>gaT	p.E281D	UBAP2_ENST00000539807.1_Missense_Mutation_p.E36D|UBAP2_ENST00000449054.1_Missense_Mutation_p.E281D|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.E281D|UBAP2_ENST00000418786.2_Missense_Mutation_p.E228D					ubiquitin associated protein 2									p.E281D(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AGATGTGATTCTCTGCTGGAG	0.338																																					p.E281D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G843T	9						.						117.0	127.0	123.0					9																	33956100		2203	4300	6503	33946100	SO:0001583	missense	55833	exon11			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.843G>T	9.37:g.33956100C>A	ENSP00000368540:p.Glu281Asp		33946100	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563663	0.45694	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T	0.39229	2.45;2.45;2.45;1.95;1.75;1.09	5.2	2.96	0.34315	.	0.147219	0.64402	N	0.000013	T	0.42743	0.1216	M	0.78801	2.425	0.46798	D	0.9992	B;P;B;B;B;B	0.34587	0.004;0.458;0.022;0.022;0.328;0.357	B;B;B;B;B;B	0.36134	0.006;0.129;0.018;0.018;0.061;0.218	T	0.42292	-0.9460	10	0.49607	T	0.09	-6.2135	8.2279	0.31579	0.0:0.6742:0.1365:0.1893	.	228;206;36;190;206;281	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	D	281;281;281;190;199;36;228;228;135	ENSP00000368540:E281D;ENSP00000416932:E281D;ENSP00000354039:E281D;ENSP00000439329:E36D;ENSP00000404436:E228D;ENSP00000414800:E228D	ENSP00000354039:E281D	E	-	3	2	UBAP2	33946100	1.000000	0.71417	0.990000	0.47175	0.911000	0.54048	0.524000	0.22940	1.157000	0.42530	0.491000	0.48974	GAG		0.338	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
UBAP2	55833	broad.mit.edu	37	9	34017093	34017093	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34017093C>A	ENST00000379238.1	-	2	171	c.54G>T	c.(52-54)caG>caT	p.Q18H	UBAP2_ENST00000539807.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q18H|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.Q18H|RNU7-36P_ENST00000516597.1_RNA|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q18H|UBAP2_ENST00000480885.1_5'UTR					ubiquitin associated protein 2									p.Q18H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGCTGAAATCTGTGGTTTTT	0.333																																					p.Q18H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54T	9						.						138.0	119.0	125.0					9																	34017093		2203	4300	6503	34007093	SO:0001583	missense	55833	exon2			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.54G>T	9.37:g.34017093C>A	ENSP00000368540:p.Gln18His		34007093	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157514	0.38119	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.82	3.94	0.45596	.	0.240274	0.43747	N	0.000521	T	0.42854	0.1221	L	0.55990	1.75	0.33921	D	0.640939	B;D	0.69078	0.023;0.997	B;D	0.64144	0.01;0.922	T	0.55108	-0.8192	10	0.48119	T	0.1	-0.4254	6.9595	0.24590	0.2991:0.6047:0.0:0.0962	.	18;18	E7EWG4;Q5T6F2	.;UBAP2_HUMAN	H	18	ENSP00000368540:Q18H;ENSP00000416932:Q18H;ENSP00000354039:Q18H;ENSP00000404436:Q18H;ENSP00000414800:Q18H	ENSP00000259602:Q18H	Q	-	3	2	UBAP2	34007093	0.999000	0.42202	1.000000	0.80357	0.195000	0.23768	0.580000	0.23803	0.767000	0.33267	-0.182000	0.12963	CAG		0.333	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
DCAF12	25853	broad.mit.edu	37	9	34125241	34125241	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34125241C>A	ENST00000361264.4	-	2	454	c.113G>T	c.(112-114)aGa>aTa	p.R38I	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	38					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)		p.R38I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						AGGAGGAAGTCTTTTCCTTTT	0.433																																					p.R38I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113T	9						.						81.0	77.0	78.0					9																	34125241		2203	4300	6503	34115241	SO:0001583	missense	25853	exon2			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.113G>T	9.37:g.34125241C>A	ENSP00000355114:p.Arg38Ile		34115241	NM_015397	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386822	0.82902	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.65178	1.78;-0.14;1.09	4.76	3.87	0.44632	.	0.058486	0.64402	D	0.000002	T	0.73753	0.3627	M	0.63843	1.955	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.76446	-0.2956	10	0.66056	D	0.02	-2.8774	13.0027	0.58685	0.0:0.9222:0.0:0.0778	.	38	Q5T6F0	DCA12_HUMAN	I	38;20;17	ENSP00000355114:R38I;ENSP00000380187:R20I;ENSP00000415833:R17I	ENSP00000355114:R38I	R	-	2	0	DCAF12	34115241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.965000	0.63708	1.240000	0.43803	0.655000	0.94253	AGA		0.433	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397	
KIF24	347240	broad.mit.edu	37	9	34290240	34290240	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34290240G>A	ENST00000402558.2	-	4	1083	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379166.2_Silent_p.L353L|KIF24_ENST00000379174.3_Intron			Q5T7B8	KIF24_HUMAN	kinesin family member 24	353	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L353L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCACACAAAGAGGTGCTTTC	0.423																																					p.L353L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1059T	9						.						131.0	122.0	125.0					9																	34290240		1873	4105	5978	34280240	SO:0001819	synonymous_variant	347240	exon5			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1059C>T	9.37:g.34290240G>A			34280240	NM_194313	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	CCDS6551.2																																																																																				0.423	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
FAM219A	203259	broad.mit.edu	37	9	34405953	34405953	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34405953C>T	ENST00000445726.1	-	2	376	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	FAM219A_ENST00000379080.1_Missense_Mutation_p.A12T|FAM219A_ENST00000379081.1_Missense_Mutation_p.A12T|FAM219A_ENST00000379084.1_Missense_Mutation_p.A23T|FAM219A_ENST00000297620.4_Missense_Mutation_p.A24T|FAM219A_ENST00000379087.1_Missense_Mutation_p.A23T|FAM219A_ENST00000379089.1_Missense_Mutation_p.A23T|FAM219A_ENST00000379078.1_Missense_Mutation_p.A23T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	24								p.A24T(1)									ATGGAGGCGGCGGCTGGGTCC	0.582																																					p.A24T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	9						.						61.0	64.0	63.0					9																	34405953		2203	4300	6503	34395953	SO:0001583	missense	203259	exon2			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.70G>A	9.37:g.34405953C>T	ENSP00000392452:p.Ala24Thr		34395953	NM_147202	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090515	0.76756	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.2	4.3	0.51218	.	0.121131	0.56097	D	0.000037	T	0.69223	0.3087	L	0.56769	1.78	0.42430	D	0.992678	P;D;B;B;D	0.89917	0.579;1.0;0.296;0.296;0.999	B;D;B;B;D	0.83275	0.162;0.996;0.049;0.049;0.99	T	0.68985	-0.5265	9	0.45353	T	0.12	-14.3375	10.0239	0.42059	0.0:0.9063:0.0:0.0937	.	13;24;13;13;24	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	T	23;23;23;12;12;24;24;23;23	.	ENSP00000297620:A24T	A	-	1	0	C9orf25	34395953	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	3.068000	0.50018	1.212000	0.43366	-0.221000	0.12465	GCC		0.582	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001184940	
DNAI1	27019	broad.mit.edu	37	9	34490025	34490025	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34490025T>C	ENST00000242317.4	+	6	575	c.404T>C	c.(403-405)gTc>gCc	p.V135A	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	135					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.V135A(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGGAGTCTGTCAAGGTGATT	0.507									Kartagener syndrome																												p.V135A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T404C	9						.						56.0	59.0	58.0					9																	34490025		2203	4300	6503	34480025	SO:0001583	missense	27019	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.404T>C	9.37:g.34490025T>C	ENSP00000242317:p.Val135Ala		34480025	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	T	0.368	-0.935821	0.02340	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.74106	-0.81;-0.66	4.69	0.548	0.17208	.	48.621200	0.01020	N	0.003977	T	0.42223	0.1193	N	0.01109	-1.01	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.54662	-0.8260	10	0.05351	T	0.99	.	6.347	0.21355	0.0:0.4488:0.0:0.5512	.	135	Q9UI46	DNAI1_HUMAN	A	124;135;124	ENSP00000242317:V135A;ENSP00000395396:V124A	ENSP00000242317:V135A	V	+	2	0	DNAI1	34480025	0.001000	0.12720	0.033000	0.17914	0.986000	0.74619	-0.659000	0.05323	0.093000	0.17368	-0.146000	0.13790	GTC		0.507	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
CNTFR	1271	broad.mit.edu	37	9	34552808	34552808	+	Silent	SNP	G	G	A	rs202050719		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34552808G>A	ENST00000378980.3	-	8	1106	c.813C>T	c.(811-813)taC>taT	p.Y271Y	CNTFR_ENST00000351266.4_Silent_p.Y271Y	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	271	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)	p.Y271Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCTTCCCGGCGTAGGCATCTG	0.622																																					p.Y271Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C813T	9						.						186.0	138.0	154.0					9																	34552808		2203	4300	6503	34542808	SO:0001819	synonymous_variant	1271	exon8			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.813C>T	9.37:g.34552808G>A			34542808	NM_147164	Q5U050	Silent	SNP	ENST00000378980.3	37	CCDS6558.1																																																																																				0.622	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1		
ARID3C	138715	broad.mit.edu	37	9	34622066	34622066	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34622066G>A	ENST00000378909.2	-	6	1181	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000477738.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000259632.7_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	363	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G363G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TACTGCTGATGCCACTGCCTG	0.517																																					p.G363G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089T	9						.						135.0	115.0	122.0					9																	34622066		2203	4300	6503	34612066	SO:0001819	synonymous_variant	138715	exon6				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.1089C>T	9.37:g.34622066G>A			34612066	NM_001017363		Silent	SNP	ENST00000378909.2	37	CCDS35006.1																																																																																				0.517	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061	
KIAA1045	23349	broad.mit.edu	37	9	34971626	34971626	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34971626C>A	ENST00000242315.3	+	2	413	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	KIAA1045_ENST00000544237.1_Missense_Mutation_p.L111M|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	111							metal ion binding (GO:0046872)	p.L111M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACCCGGAAGCTGGATGATGA	0.592																																					p.L111M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	9						.						123.0	132.0	130.0					9																	34971626		1928	4145	6073	34961626	SO:0001583	missense	23349	exon2			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.331C>A	9.37:g.34971626C>A	ENSP00000242315:p.Leu111Met		34961626	NM_015297	B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.153888	0.78114	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	5.12	0.69794	.	0.161033	0.43416	D	0.000562	T	0.70439	0.3224	L	0.57536	1.79	0.37937	D	0.932203	D	0.76494	0.999	D	0.69142	0.962	T	0.71283	-0.4639	8	.	.	.	-0.0737	14.7006	0.69154	0.0:0.93:0.0:0.07	.	111	Q9UPV7	K1045_HUMAN	M	111	.	.	L	+	1	2	KIAA1045	34961626	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.699000	0.25586	2.861000	0.98227	0.655000	0.94253	CTG		0.592	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592	
VCP	7415	broad.mit.edu	37	9	35066724	35066724	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35066724G>A	ENST00000358901.6	-	4	1288	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	131					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.F131F(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGTATACCTCGAAGAGATTAC	0.473																																					p.F131F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	9						.						144.0	119.0	127.0					9																	35066724		2203	4300	6503	35056724	SO:0001819	synonymous_variant	7415	exon4			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.393C>T	9.37:g.35066724G>A			35056724	NM_007126	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	CCDS6573.1																																																																																				0.473	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	
FANCG	2189	broad.mit.edu	37	9	35074137	35074137	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35074137G>A	ENST00000378643.3	-	14	2328	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	613					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.R613W(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAGATGTCCGAAATTCTTCA	0.537			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																													p.R613W		yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1837T	9						.						72.0	70.0	71.0					9																	35074137		2203	4300	6503	35064137	SO:0001583	missense	2189	exon14			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1837C>T	9.37:g.35074137G>A	ENSP00000367910:p.Arg613Trp		35064137	NM_004629		Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636433	0.29068	.	.	ENSG00000221829	ENST00000378643	T	0.57107	0.42	5.49	4.58	0.56647	.	.	.	.	.	T	0.42630	0.1211	L	0.36672	1.1	0.25637	N	0.986247	D	0.56287	0.975	B	0.39876	0.312	T	0.32666	-0.9898	9	0.66056	D	0.02	-2.9242	11.9676	0.53044	0.0:0.1827:0.8173:0.0	.	613	O15287	FANCG_HUMAN	W	613	ENSP00000367910:R613W	ENSP00000367910:R613W	R	-	1	2	FANCG	35064137	0.978000	0.34361	0.782000	0.31804	0.065000	0.16274	2.055000	0.41345	1.287000	0.44583	0.455000	0.32223	CGG		0.537	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629	
FANCG	2189	broad.mit.edu	37	9	35075282	35075282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35075282C>A	ENST00000378643.3	-	11	1965	c.1474G>T	c.(1474-1476)Gaa>Taa	p.E492*	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	492					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.E492*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCACCTTGTTCTTTTTCCTCA	0.488			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																													p.E492X		yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1474T	9						.						101.0	103.0	102.0					9																	35075282		2203	4300	6503	35065282	SO:0001587	stop_gained	2189	exon11			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1474G>T	9.37:g.35075282C>A	ENSP00000367910:p.Glu492*		35065282	NM_004629		Nonsense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.337422|8.337422	0.98767|0.98767	.|.	.|.	ENSG00000221829|ENSG00000221829	ENST00000378643|ENST00000543657	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68924	.|0.3054	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75662	.|-0.3240	.|4	0.40728|0.52906	T|T	0.16|0.07	-0.7616|-0.7616	14.4196|14.4196	0.67175|0.67175	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	492|441	.|.	ENSP00000367910:E492X|ENSP00000440458:R441I	E|R	-|-	1|2	0|0	FANCG|FANCG	35065282|35065282	0.892000|0.892000	0.30473|0.30473	0.973000|0.973000	0.42090|0.42090	0.234000|0.234000	0.25298|0.25298	3.462000|3.462000	0.53042|0.53042	2.471000|2.471000	0.83476|0.83476	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.488	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629	
PIGO	84720	broad.mit.edu	37	9	35093113	35093113	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35093113C>T	ENST00000378617.3	-	6	1427	c.1033G>A	c.(1033-1035)Gct>Act	p.A345T	PIGO_ENST00000298004.5_Missense_Mutation_p.A345T|PIGO_ENST00000361778.2_Missense_Mutation_p.A345T|PIGO_ENST00000341666.3_Missense_Mutation_p.A345T|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	345					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.A345T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATAGCTCAGCCATCACTTCC	0.587																																					p.A345T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	9						.						60.0	53.0	56.0					9																	35093113		2203	4300	6503	35083113	SO:0001583	missense	84720	exon6			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1033G>A	9.37:g.35093113C>T	ENSP00000367880:p.Ala345Thr		35083113	NM_032634	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	3.203	-0.163339	0.06502	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.55	2.65	0.31530	Alkaline-phosphatase-like, core domain (1);	0.495069	0.22847	N	0.054920	T	0.36248	0.0960	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17379	-1.0371	10	0.26408	T	0.33	-9.2241	5.6384	0.17550	0.0:0.6202:0.1395:0.2403	.	345;345	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	T	345	ENSP00000298004:A345T;ENSP00000367880:A345T;ENSP00000339382:A345T;ENSP00000354678:A345T	ENSP00000298004:A345T	A	-	1	0	PIGO	35083113	0.016000	0.18221	0.127000	0.21898	0.537000	0.34900	0.288000	0.18939	0.402000	0.25451	-0.137000	0.14449	GCT		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
STOML2	30968	broad.mit.edu	37	9	35100048	35100048	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35100048C>T	ENST00000356493.5	-	10	1117	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	STOML2_ENST00000487490.1_5'Flank|RP11-182N22.8_ENST00000431804.1_RNA|STOML2_ENST00000452248.2_Missense_Mutation_p.R307Q	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	352					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.R352Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CATCTTGACTCGATCAAGTTC	0.532																																					p.R352Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	9						.						177.0	144.0	155.0					9																	35100048		2203	4300	6503	35090048	SO:0001583	missense	30968	exon10			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.1055G>A	9.37:g.35100048C>T	ENSP00000348886:p.Arg352Gln		35090048	NM_013442	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	9.039	0.989117	0.18966	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98296	-3.57;-4.85	5.07	4.17	0.49024	.	0.262839	0.27284	N	0.020063	D	0.95023	0.8389	L	0.36672	1.1	0.28680	N	0.905168	B;B	0.14438	0.003;0.01	B;B	0.01281	0.0;0.0	D	0.90669	0.4596	10	0.51188	T	0.08	-0.8362	7.268	0.26239	0.0:0.7398:0.1696:0.0905	.	307;352	B4E1K7;Q9UJZ1	.;STML2_HUMAN	Q	352;307	ENSP00000348886:R352Q;ENSP00000395743:R307Q	ENSP00000348886:R352Q	R	-	2	0	STOML2	35090048	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.631000	0.37092	1.362000	0.46000	0.655000	0.94253	CGA		0.532	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442	
STOML2	30968	broad.mit.edu	37	9	35101799	35101799	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35101799C>T	ENST00000356493.5	-	5	414	c.352G>A	c.(352-354)Ggt>Agt	p.G118S	STOML2_ENST00000487490.1_5'UTR|STOML2_ENST00000452248.2_Missense_Mutation_p.G118S	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	118					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.G118S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTCCACACCGTAGCTTGCC	0.507																																					p.G118S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	9						.						134.0	132.0	133.0					9																	35101799		2203	4300	6503	35091799	SO:0001583	missense	30968	exon5			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.352G>A	9.37:g.35101799C>T	ENSP00000348886:p.Gly118Ser		35091799	NM_013442	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333184	0.95758	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.93247	-3.19;-3.19	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	M	0.79926	2.475	0.80722	D	1	D;D	0.76494	0.974;0.999	P;D	0.79784	0.821;0.993	D	0.97177	0.9848	10	0.87932	D	0	-9.7615	18.2135	0.89878	0.0:1.0:0.0:0.0	.	118;118	B4E1K7;Q9UJZ1	.;STML2_HUMAN	S	118	ENSP00000348886:G118S;ENSP00000395743:G118S	ENSP00000348886:G118S	G	-	1	0	STOML2	35091799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.616000	0.83018	2.634000	0.89283	0.655000	0.94253	GGT		0.507	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442	
FAM214B	80256	broad.mit.edu	37	9	35105274	35105274	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35105274C>T	ENST00000378561.1	-	8	4616	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	FAM214B_ENST00000378557.1_Missense_Mutation_p.E521K|STOML2_ENST00000356493.5_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.E521K|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.E521K|FAM214B_ENST00000378566.1_Missense_Mutation_p.E216K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E521K|STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000603301.1_Missense_Mutation_p.E521K			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	521						nucleus (GO:0005634)		p.E521K(1)									GCCTGCAGTTCGTAGGGGAGC	0.602																																					p.E521K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1561A	9						.						54.0	52.0	53.0					9																	35105274		2203	4300	6503	35095274	SO:0001583	missense	80256	exon9			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1561G>A	9.37:g.35105274C>T	ENSP00000367823:p.Glu521Lys		35095274	NM_025182	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063812	0.93898	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557	.	.	.	5.31	5.31	0.75309	.	0.165073	0.52532	D	0.000074	T	0.67069	0.2854	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.68708	-0.5337	9	0.62326	D	0.03	-5.0481	18.7663	0.91874	0.0:1.0:0.0:0.0	.	521	Q7L5A3	K1539_HUMAN	K	216;521;521;521	.	ENSP00000319897:E521K	E	-	1	0	KIAA1539	35095274	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	7.243000	0.78219	2.759000	0.94783	0.561000	0.74099	GAA		0.602	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182	
UNC13B	10497	broad.mit.edu	37	9	35236517	35236517	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35236517A>G	ENST00000378495.3	+	4	426	c.204A>G	c.(202-204)ggA>ggG	p.G68G	UNC13B_ENST00000396787.1_Silent_p.G68G|UNC13B_ENST00000378496.4_Silent_p.G68G	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	68	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.G68G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAACAAAGGACTGATCTGGG	0.473																																					p.G68G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A204G	9						.						261.0	221.0	234.0					9																	35236517		2203	4300	6503	35226517	SO:0001819	synonymous_variant	10497	exon4			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.204A>G	9.37:g.35236517A>G			35226517	NM_006377	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.473	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
UNC13B	10497	broad.mit.edu	37	9	35295718	35295718	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35295718C>T	ENST00000378495.3	+	8	774	c.552C>T	c.(550-552)gtC>gtT	p.V184V	UNC13B_ENST00000396787.1_Silent_p.V196V|UNC13B_ENST00000378496.4_Silent_p.V184V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	184					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.V184V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGTGCCGTCGATGACCGAG	0.463																																					p.V184V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	9						.						132.0	115.0	121.0					9																	35295718		2203	4300	6503	35285718	SO:0001819	synonymous_variant	10497	exon8			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.552C>T	9.37:g.35295718C>T			35285718	NM_006377	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.463	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
UNC13B	10497	broad.mit.edu	37	9	35403824	35403824	+	Missense_Mutation	SNP	C	C	T	rs199514152		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35403824C>T	ENST00000378495.3	+	39	4792	c.4570C>T	c.(4570-4572)Cgc>Tgc	p.R1524C	ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1555C|UNC13B_ENST00000378496.4_Missense_Mutation_p.R1543C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1524	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.R1524C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGAAGATCGCGTGCTAGG	0.572																																					p.R1524C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4570T	9						.						90.0	85.0	86.0					9																	35403824		2203	4300	6503	35393824	SO:0001583	missense	10497	exon39			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4570C>T	9.37:g.35403824C>T	ENSP00000367756:p.Arg1524Cys		35393824	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731041	0.89390	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.69806	-0.43;-0.43;-0.43	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.111469	0.64402	D	0.000007	D	0.86058	0.5842	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86857	0.2027	10	0.87932	D	0	-5.4691	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1543;1524	F8W8M9;O14795	.;UN13B_HUMAN	C	1555;1524;1543;1130	ENSP00000380006:R1555C;ENSP00000367756:R1524C;ENSP00000367757:R1543C	ENSP00000367756:R1524C	R	+	1	0	UNC13B	35393824	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	4.854000	0.62918	2.941000	0.99782	0.655000	0.94253	CGC		0.572	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
RUSC2	9853	broad.mit.edu	37	9	35560483	35560483	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35560483C>T	ENST00000455600.1	+	10	4415	c.3846C>T	c.(3844-3846)atC>atT	p.I1282I	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1282						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.I1282I(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTCTACATCGATGGCTCCA	0.657																																					p.I1282I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3846T	9						.						50.0	59.0	56.0					9																	35560483		2203	4299	6502	35550483	SO:0001819	synonymous_variant	9853	exon10			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3846C>T	9.37:g.35560483C>T			35550483	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																				0.657	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
CD72	971	broad.mit.edu	37	9	35616244	35616244	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35616244C>T	ENST00000396757.1	-	6	548	c.384G>A	c.(382-384)acG>acA	p.T128T	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Silent_p.T128T|CD72_ENST00000378431.1_3'UTR			P21854	CD72_HUMAN	CD72 molecule	128					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.T128T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAACCCTGTTCGTCTGCTGGA	0.577																																					p.T128T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G384A	9						.						29.0	27.0	27.0					9																	35616244		2203	4300	6503	35606244	SO:0001819	synonymous_variant	971	exon5				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.384G>A	9.37:g.35616244C>T			35606244	NM_001782		Silent	SNP	ENST00000396757.1	37	CCDS6581.1																																																																																				0.577	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	
TLN1	7094	broad.mit.edu	37	9	35717171	35717171	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35717171C>A	ENST00000314888.9	-	19	2783	c.2430G>T	c.(2428-2430)gaG>gaT	p.E810D	TLN1_ENST00000540444.1_Missense_Mutation_p.E810D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	810					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.E810D(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAAAGATGTTCTCAGTGACGG	0.547																																					p.E810D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2430T	9						.						90.0	88.0	88.0					9																	35717171		2203	4300	6503	35707171	SO:0001583	missense	7094	exon19			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2430G>T	9.37:g.35717171C>A	ENSP00000316029:p.Glu810Asp		35707171	NM_006289	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411637	0.25465	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67171	-0.25;-0.24	5.6	1.14	0.20703	.	0.103719	0.64402	D	0.000004	T	0.41789	0.1174	N	0.13371	0.34	0.50632	D	0.999887	B	0.02656	0.0	B	0.04013	0.001	T	0.18209	-1.0344	10	0.07990	T	0.79	-24.2094	10.3745	0.44075	0.0:0.7511:0.0:0.2489	.	810	Q9Y490	TLN1_HUMAN	D	810	ENSP00000316029:E810D;ENSP00000442981:E810D	ENSP00000316029:E810D	E	-	3	2	TLN1	35707171	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	0.956000	0.29202	0.159000	0.19401	0.561000	0.74099	GAG		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	
GBA2	57704	broad.mit.edu	37	9	35750881	35750881	+	5'Flank	SNP	C	C	T	rs373690510		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35750881C>T	ENST00000378103.3	-	0	0				MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000378094.4_5'Flank|GBA2_ENST00000545786.1_5'Flank|RGP1_ENST00000456972.2_Missense_Mutation_p.R168W|RGP1_ENST00000378078.4_Missense_Mutation_p.R128W	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.R128W(1)|p.R168W(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCCTCCTTTCGGGGTCAGTC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20493	0.0		0.0	False		,,,				2504	0.001				p.R128W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C382T	9						.	C	TRP/ARG	1,3969		0,1,1984	84.0	84.0	84.0		382	3.5	1.0	9		84	0,8326		0,0,4163	no	missense	RGP1	NM_001080496.2	101	0,1,6147	TT,TC,CC		0.0,0.0252,0.0081	benign	128/392	35750881	1,12295	1985	4163	6148	35740881	SO:0001631	upstream_gene_variant	9827	exon5			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35750881C>T	Exception_encountered		35740881	NM_001080496	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923868	0.73213	2.52E-4	0.0	ENSG00000107185	ENST00000456972;ENST00000378078	.	.	.	5.33	3.45	0.39498	.	0.052553	0.85682	D	0.000000	T	0.78168	0.4241	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79125	-0.1932	9	0.87932	D	0	-8.1769	10.2481	0.43354	0.0:0.7898:0.1362:0.074	.	128;128	Q92546;A8K0K1	RGP1_HUMAN;.	W	168;128	.	ENSP00000367318:R128W	R	+	1	2	RGP1	35740881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.033000	0.64146	0.703000	0.31848	0.655000	0.94253	CGG		0.547	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944	
NPR2	4882	broad.mit.edu	37	9	35793932	35793932	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35793932G>T	ENST00000342694.2	+	2	960	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	235					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E235D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGCTGCATGAGATCCTGCTTC	0.562																																					p.E235D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G705T	9						.						98.0	95.0	96.0					9																	35793932		2203	4300	6503	35783932	SO:0001583	missense	4882	exon2			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.705G>T	9.37:g.35793932G>T	ENSP00000341083:p.Glu235Asp		35783932	NM_003995	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791008	0.31685	.	.	ENSG00000159899	ENST00000342694	D	0.82984	-1.67	4.23	2.38	0.29361	Extracellular ligand-binding receptor (1);	0.000000	0.43747	D	0.000536	T	0.62270	0.2414	N	0.16602	0.42	0.28200	N	0.927374	B;B	0.14012	0.007;0.009	B;B	0.20384	0.007;0.029	T	0.41963	-0.9479	10	0.10902	T	0.67	.	2.5165	0.04669	0.1729:0.1456:0.5321:0.1494	.	235;235	P20594-2;P20594	.;ANPRB_HUMAN	D	235	ENSP00000341083:E235D	ENSP00000341083:E235D	E	+	3	2	NPR2	35783932	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	0.531000	0.28639	0.655000	0.94253	GAG		0.562	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
FAM221B	392307	broad.mit.edu	37	9	35825819	35825819	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35825819C>A	ENST00000423537.2	-	2	609	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	114								p.D114Y(1)		endometrium(2)|kidney(1)|lung(4)	7						CAGACATAGTCTCGTGATTGG	0.498											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D114Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340T	9						.						153.0	152.0	153.0					9																	35825819		1917	4127	6044	35815819	SO:0001583	missense	392307	exon2			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.340G>T	9.37:g.35825819C>A	ENSP00000415299:p.Asp114Tyr	858	35815819	NM_001012446	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	c	7.588	0.670147	0.14776	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.20881	2.32;2.04	3.77	-4.31	0.03698	.	2.108010	0.02113	N	0.055009	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.27765	0.188	B	0.27380	0.079	T	0.31081	-0.9956	10	0.59425	D	0.04	1.034	11.8029	0.52137	0.0:0.4391:0.0:0.5609	.	114	A6H8Z2	CI128_HUMAN	Y	114	ENSP00000415299:D114Y;ENSP00000367222:D114Y	ENSP00000367222:D114Y	D	-	1	0	C9orf128	35815819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.180000	0.03088	-1.452000	0.01931	-1.966000	0.00469	GAC		0.498	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446	
OR2S2	56656	broad.mit.edu	37	9	35957487	35957487	+	Silent	SNP	C	C	T	rs377240592	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:35957487C>T	ENST00000341959.2	-	1	664	c.609G>A	c.(607-609)acG>acA	p.T203T		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	203					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T193T(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGATCACATTCGTCACCTCCA	0.483													C|||	2	0.000399361	0.0	0.0029	5008	,	,		24649	0.0		0.0	False		,,,				2504	0.0				p.T203T	Pancreas(172;293 2036 17878 24427 30946)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G609A	9						.	C		1,4405	2.1+/-5.4	0,1,2202	112.0	109.0	110.0		609	-7.9	0.0	9		110	0,8600		0,0,4300	no	coding-synonymous	OR2S2	NM_019897.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		203/320	35957487	1,13005	2203	4300	6503	35947487	SO:0001819	synonymous_variant	56656	exon1			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.609G>A	9.37:g.35957487C>T			35947487	NM_019897	Q2M3L0|Q6IF19|Q96R42	Silent	SNP	ENST00000341959.2	37	CCDS6596.2																																																																																				0.483	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897	
RECK	8434	broad.mit.edu	37	9	36100335	36100335	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:36100335G>T	ENST00000377966.3	+	11	1659	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	365					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E365*(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TAGGCCAACAGAACTTTTCAG	0.373																																					p.E365X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1093T	9						.						51.0	46.0	47.0					9																	36100335		2203	4300	6503	36090335	SO:0001587	stop_gained	8434	exon11			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1093G>T	9.37:g.36100335G>T	ENSP00000367202:p.Glu365*		36090335	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Nonsense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	43	10.228864	0.99364	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.043	16.5337	0.84367	0.0:0.0:1.0:0.0	.	.	.	.	X	365	.	ENSP00000367202:E365X	E	+	1	0	RECK	36090335	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.534000	0.98061	2.498000	0.84270	0.655000	0.94253	GAA		0.373	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
CLTA	1211	broad.mit.edu	37	9	36204074	36204074	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:36204074C>A	ENST00000242285.6	+	4	503	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	CLTA_ENST00000538225.1_Missense_Mutation_p.S128Y|CLTA_ENST00000433436.2_Missense_Mutation_p.S128Y|CLTA_ENST00000470744.1_Missense_Mutation_p.S128Y|CLTA_ENST00000466396.1_Missense_Mutation_p.S76Y|CLTA_ENST00000396603.2_Missense_Mutation_p.S128Y|CLTA_ENST00000540080.1_Missense_Mutation_p.S76Y|CLTA_ENST00000345519.5_Missense_Mutation_p.S128Y			P09496	CLCA_HUMAN	clathrin, light chain A	128	Involved in binding clathrin heavy chain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)	p.S128Y(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GATGCCAATTCTCGGAAGCAA	0.408																																					p.S128Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C383A	9						.						100.0	86.0	91.0					9																	36204074		2203	4300	6503	36194074	SO:0001583	missense	1211	exon4				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.383C>A	9.37:g.36204074C>A	ENSP00000242285:p.Ser128Tyr		36194074	NM_001184760	A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Missense_Mutation	SNP	ENST00000242285.6	37	CCDS6601.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734973	0.69189	.	.	ENSG00000122705	ENST00000433436;ENST00000538225;ENST00000540080;ENST00000345519;ENST00000470744;ENST00000242285;ENST00000466396;ENST00000396603	T	0.40756	1.02	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.79784	0.979;0.993;0.987;0.986	T	0.77101	-0.2712	10	0.87932	D	0	-17.1823	17.8186	0.88643	0.0:1.0:0.0:0.0	.	128;128;128;128	B4DIN1;P09496-2;P09496-3;P09496	.;.;.;CLCA_HUMAN	Y	128;128;76;128;128;128;76;128	ENSP00000242284:S128Y	ENSP00000242285:S128Y	S	+	2	0	CLTA	36194074	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	6.951000	0.75983	2.818000	0.97014	0.655000	0.94253	TCT		0.408	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096	
MELK	9833	broad.mit.edu	37	9	36633110	36633110	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:36633110G>T	ENST00000298048.2	+	10	931	c.747G>T	c.(745-747)aaG>aaT	p.K249N	MELK_ENST00000538311.1_Missense_Mutation_p.K55N|MELK_ENST00000536987.1_Missense_Mutation_p.K118N|MELK_ENST00000543751.1_Missense_Mutation_p.K217N|MELK_ENST00000536329.1_Missense_Mutation_p.K178N|MELK_ENST00000541717.1_Missense_Mutation_p.K249N|MELK_ENST00000536860.1_Missense_Mutation_p.K201N|MELK_ENST00000545008.1_Missense_Mutation_p.K178N	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.K249N(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGGACCCAAAGAAACGGATTT	0.363																																					p.K249N	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G747T	9						.						85.0	85.0	85.0					9																	36633110		2203	4300	6503	36623110	SO:0001583	missense	9833	exon10			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.747G>T	9.37:g.36633110G>T	ENSP00000298048:p.Lys249Asn		36623110	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096921	0.56075	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	N	0.11154	0.105	0.80722	D	1	D;P;P;P;D;P;P	0.89917	1.0;0.86;0.721;0.516;0.999;0.74;0.571	D;P;B;B;D;P;B	0.79108	0.992;0.561;0.26;0.187;0.986;0.457;0.378	T	0.62167	-0.6911	10	0.21540	T	0.41	-16.0674	19.3663	0.94464	0.0:0.0:1.0:0.0	.	169;178;201;249;178;217;249	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	N	249;55;118;178;201;178;249;217	ENSP00000298048:K249N;ENSP00000438226:K55N;ENSP00000439184:K118N;ENSP00000445452:K178N;ENSP00000439792:K201N;ENSP00000443550:K178N;ENSP00000437804:K249N;ENSP00000441596:K217N	ENSP00000298048:K249N	K	+	3	2	MELK	36623110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	2.873000	0.98535	0.563000	0.77884	AAG		0.363	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
MELK	9833	broad.mit.edu	37	9	36665465	36665465	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:36665465C>T	ENST00000298048.2	+	14	1479	c.1295C>T	c.(1294-1296)gCt>gTt	p.A432V	MELK_ENST00000538311.1_Missense_Mutation_p.A238V|MELK_ENST00000536987.1_Missense_Mutation_p.A301V|MELK_ENST00000543751.1_Missense_Mutation_p.A400V|MELK_ENST00000536329.1_Missense_Mutation_p.A361V|MELK_ENST00000541717.1_Missense_Mutation_p.A391V|MELK_ENST00000536860.1_Missense_Mutation_p.A384V|MELK_ENST00000545008.1_Missense_Mutation_p.A361V	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	432	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.A432V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CCTAAGTCTGCTGTAAAGAAT	0.358																																					p.A432V	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1295T	9						.						84.0	86.0	85.0					9																	36665465		2203	4299	6502	36655465	SO:0001583	missense	9833	exon14			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1295C>T	9.37:g.36665465C>T	ENSP00000298048:p.Ala432Val		36655465	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	C	7.790	0.711298	0.15239	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.72051	-0.43;0.56;0.35;0.88;0.25;-0.62;-0.43;-0.43	5.65	4.75	0.60458	.	0.481828	0.23712	N	0.045306	T	0.65688	0.2715	L	0.55481	1.735	0.31082	N	0.711866	B;B;B;B;B;B;B	0.22003	0.012;0.063;0.052;0.0;0.025;0.003;0.001	B;B;B;B;B;B;B	0.29077	0.009;0.098;0.075;0.003;0.015;0.004;0.004	T	0.64676	-0.6351	10	0.30854	T	0.27	-1.8548	10.5211	0.44920	0.0:0.9113:0.0:0.0887	.	352;361;384;391;361;400;432	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	V	432;238;301;361;384;361;391;400	ENSP00000298048:A432V;ENSP00000438226:A238V;ENSP00000439184:A301V;ENSP00000445452:A361V;ENSP00000439792:A384V;ENSP00000443550:A361V;ENSP00000437804:A391V;ENSP00000441596:A400V	ENSP00000298048:A432V	A	+	2	0	MELK	36655465	1.000000	0.71417	0.985000	0.45067	0.197000	0.23852	2.139000	0.42149	1.392000	0.46585	-0.142000	0.14014	GCT		0.358	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
FRMPD1	22844	broad.mit.edu	37	9	37732310	37732310	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37732310G>A	ENST00000539465.1	+	10	1461	c.868G>A	c.(868-870)Gat>Aat	p.D290N	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D290N|FRMPD1_ENST00000541302.1_Missense_Mutation_p.D159N|FRMPD1_ENST00000536622.1_Missense_Mutation_p.D112N|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	290	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D290N(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGCTGCAGCGATGTGCTCCA	0.542																																					p.D290N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	9						.						60.0	61.0	61.0					9																	37732310		2203	4300	6503	37722310	SO:0001583	missense	22844	exon10			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.868G>A	9.37:g.37732310G>A	ENSP00000444411:p.Asp290Asn		37722310	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239046	0.95240	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.34	5.34	0.76211	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.986;1.0	D	0.90318	0.4342	10	0.72032	D	0.01	-18.6998	16.5411	0.84385	0.0:0.0:1.0:0.0	.	159;290	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	N	290;290;112;159	ENSP00000366995:D290N;ENSP00000444411:D290N;ENSP00000437762:D112N;ENSP00000444804:D159N	ENSP00000366995:D290N	D	+	1	0	FRMPD1	37722310	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	9.444000	0.97578	2.504000	0.84457	0.655000	0.94253	GAT		0.542	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37735605	37735605	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37735605C>T	ENST00000539465.1	+	13	1868	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	FRMPD1_ENST00000377765.3_Silent_p.S425S|FRMPD1_ENST00000541302.1_Silent_p.S294S|FRMPD1_ENST00000536622.1_Silent_p.S247S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	425	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S425S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATGGGATTAGCCAGGTTATCA	0.473																																					p.S425S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	9						.						166.0	150.0	155.0					9																	37735605		2203	4300	6503	37725605	SO:0001819	synonymous_variant	22844	exon13			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1275C>T	9.37:g.37735605C>T			37725605	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																				0.473	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37740134	37740134	+	Missense_Mutation	SNP	G	G	A	rs201548139		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37740134G>A	ENST00000539465.1	+	15	2202	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E537K|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E406K|FRMPD1_ENST00000536622.1_Missense_Mutation_p.E359K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	537						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.E537K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCGTACTCGAACCTCTCTC	0.557																																					p.E537K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1609A	9						.	G	LYS/GLU	0,4406		0,0,2203	79.0	85.0	83.0		1609	4.7	0.2	9		83	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FRMPD1	NM_014907.2	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	537/1579	37740134	3,13003	2203	4300	6503	37730134	SO:0001583	missense	22844	exon15			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1609G>A	9.37:g.37740134G>A	ENSP00000444411:p.Glu537Lys		37730134	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599616	0.66332	0.0	3.49E-4	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.25414	2.69;2.69;1.8;1.83	5.65	4.74	0.60224	.	0.413896	0.26407	N	0.024543	T	0.44329	0.1288	M	0.61703	1.905	0.50467	D	0.99987	D;D	0.89917	0.991;1.0	P;D	0.65874	0.646;0.939	T	0.24728	-1.0152	10	0.26408	T	0.33	-11.166	13.6882	0.62529	0.0:0.0:0.8442:0.1558	.	406;537	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	K	537;537;359;406	ENSP00000366995:E537K;ENSP00000444411:E537K;ENSP00000437762:E359K;ENSP00000444804:E406K	ENSP00000366995:E537K	E	+	1	0	FRMPD1	37730134	1.000000	0.71417	0.211000	0.23655	0.356000	0.29392	4.998000	0.63927	1.368000	0.46115	-0.181000	0.13052	GAA		0.557	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37740686	37740686	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37740686G>T	ENST00000539465.1	+	15	2754	c.2161G>T	c.(2161-2163)Gac>Tac	p.D721Y	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D721Y|FRMPD1_ENST00000541302.1_Missense_Mutation_p.D590Y|FRMPD1_ENST00000536622.1_Missense_Mutation_p.D543Y|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	721						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.D721Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTACCTGAGTGACAGTTCCGA	0.632																																					p.D721Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2161T	9						.						46.0	36.0	39.0					9																	37740686		2203	4300	6503	37730686	SO:0001583	missense	22844	exon15			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2161G>T	9.37:g.37740686G>T	ENSP00000444411:p.Asp721Tyr		37730686	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040691	0.35989	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.18960	3.15;3.15;2.18;2.18	5.75	2.55	0.30701	.	0.454406	0.25720	N	0.028744	T	0.16171	0.0389	L	0.44542	1.39	0.39403	D	0.966624	P;P	0.34780	0.468;0.468	B;B	0.36030	0.075;0.216	T	0.07520	-1.0768	10	0.72032	D	0.01	-19.0798	4.4681	0.11700	0.2018:0.1857:0.6125:0.0	.	590;721	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	Y	721;721;543;590	ENSP00000366995:D721Y;ENSP00000444411:D721Y;ENSP00000437762:D543Y;ENSP00000444804:D590Y	ENSP00000366995:D721Y	D	+	1	0	FRMPD1	37730686	0.000000	0.05858	0.929000	0.37066	0.745000	0.42441	0.323000	0.19593	1.434000	0.47414	0.655000	0.94253	GAC		0.632	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37745265	37745265	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37745265G>T	ENST00000539465.1	+	16	3829	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1079I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1079						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R1079I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTGTCTCCTAGAGATGAGCCT	0.423																																					p.R1079I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3236T	9						.						84.0	89.0	87.0					9																	37745265		2203	4300	6503	37735265	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3236G>T	9.37:g.37745265G>T	ENSP00000444411:p.Arg1079Ile		37735265	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853514	0.32791	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07021	3.23;3.23	5.11	0.0504	0.14293	.	5.660440	0.00447	N	0.000089	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.20368	0.044	B	0.16722	0.016	T	0.34378	-0.9831	10	0.37606	T	0.19	4.0369	4.8944	0.13742	0.3237:0.1573:0.519:0.0	.	1079	Q5SYB0	FRPD1_HUMAN	I	1079	ENSP00000366995:R1079I;ENSP00000444411:R1079I	ENSP00000366995:R1079I	R	+	2	0	FRMPD1	37735265	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-0.195000	0.09546	-0.290000	0.09025	0.462000	0.41574	AGA		0.423	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37746027	37746027	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:37746027A>C	ENST00000539465.1	+	16	4591	c.3998A>C	c.(3997-3999)cAg>cCg	p.Q1333P	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1333P|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1333						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.Q1333P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGATGGACCAGTGCAGCTGT	0.577																																					p.Q1333P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3998C	9						.						139.0	141.0	140.0					9																	37746027		2203	4300	6503	37736027	SO:0001583	missense	22844	exon16			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3998A>C	9.37:g.37746027A>C	ENSP00000444411:p.Gln1333Pro		37736027	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626772	0.28978	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07021	3.23;3.23	5.38	4.19	0.49359	.	0.393903	0.28883	N	0.013832	T	0.05823	0.0152	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.35475	-0.9787	10	0.27082	T	0.32	-8.3254	9.4365	0.38641	0.8222:0.1778:0.0:0.0	.	1333	Q5SYB0	FRPD1_HUMAN	P	1333	ENSP00000366995:Q1333P;ENSP00000444411:Q1333P	ENSP00000366995:Q1333P	Q	+	2	0	FRMPD1	37736027	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	1.191000	0.32138	2.049000	0.60858	0.459000	0.35465	CAG		0.577	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
ALDH1B1	219	broad.mit.edu	37	9	38396266	38396266	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:38396266A>C	ENST00000377698.3	+	2	674	c.521A>C	c.(520-522)gAg>gCg	p.E174A		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	174					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.E174A(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		ACCCGGCATGAGCCCGTTGGT	0.577																																					p.E174A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A521C	9						.						89.0	86.0	87.0					9																	38396266		2203	4300	6503	38386266	SO:0001583	missense	219	exon2			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.521A>C	9.37:g.38396266A>C	ENSP00000366927:p.Glu174Ala		38386266	NM_000692	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622878	0.66901	.	.	ENSG00000137124	ENST00000377698	T	0.78707	-1.2	5.61	5.61	0.85477	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000008	D	0.89959	0.6866	M	0.91663	3.23	0.51482	D	0.999928	D	0.69078	0.997	D	0.76071	0.987	D	0.92017	0.5623	10	0.87932	D	0	.	13.7615	0.62968	1.0:0.0:0.0:0.0	.	174	P30837	AL1B1_HUMAN	A	174	ENSP00000366927:E174A	ENSP00000366927:E174A	E	+	2	0	ALDH1B1	38386266	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.967000	0.76079	2.141000	0.66446	0.533000	0.62120	GAG		0.577	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
CNTNAP3	79937	broad.mit.edu	37	9	39177400	39177400	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:39177400T>C	ENST00000297668.6	-	6	915	c.842A>G	c.(841-843)gAc>gGc	p.D281G	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.D281G|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.D193G|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.D281G|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.D281G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	281	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D281G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GACCTGCGTGTCGAGGAGCTC	0.498																																					p.D281G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A842G	9						.						60.0	58.0	59.0					9																	39177400		2203	4300	6503	39167400	SO:0001583	missense	79937	exon6			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.842A>G	9.37:g.39177400T>C	ENSP00000297668:p.Asp281Gly		39167400	NM_033655	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	T	1.286	-0.609000	0.03690	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	3.02	-4.85	0.03142	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.30448	0.0765	N	0.00210	-1.845	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.004;0.002;0.0;0.004;0.002	T	0.46317	-0.9200	9	0.06625	T	0.88	.	11.14	0.48398	0.0:0.588:0.0:0.412	.	281;281;281;281;281	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	G	281;281;193;281;281;193	ENSP00000297668:D281G;ENSP00000366884:D281G;ENSP00000350863:D193G;ENSP00000320728:D281G;ENSP00000366887:D281G	ENSP00000297668:D281G	D	-	2	0	CNTNAP3	39167400	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.094000	0.11094	-1.261000	0.02462	0.456000	0.33151	GAC		0.498	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
ZNF658	26149	broad.mit.edu	37	9	40772822	40772822	+	Missense_Mutation	SNP	C	C	A	rs566711883		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:40772822C>A	ENST00000602553.1	-	5	2747	c.2453G>T	c.(2452-2454)aGa>aTa	p.R818I	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R818I			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	818					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.R818I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGTGAATTCTTTGATGCAC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19345	0.001		0.0	False		,,,				2504	0.0				p.R818I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2453T	9						.						58.0	58.0	58.0					9																	40772822		2200	4295	6495	40762822	SO:0001583	missense	26149	exon5			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2453G>T	9.37:g.40772822C>A	ENSP00000473484:p.Arg818Ile		40762822	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.819687	0.50633	.	.	ENSG00000196409	ENST00000377626	T	0.02446	4.29	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.05338	-1.0891	9	0.56958	D	0.05	.	9.7235	0.40317	0.0:1.0:0.0:0.0	.	818	Q5TYW1	ZN658_HUMAN	I	818	ENSP00000366853:R818I	ENSP00000366853:R818I	R	-	2	0	ZNF658	40762822	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	0.517000	0.22832	1.359000	0.45940	0.518000	0.50308	AGA		0.428	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
ANKRD20A1	84210	broad.mit.edu	37	9	67938636	67938636	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:67938636G>T	ENST00000377477.2	+	6	883	c.771G>T	c.(769-771)aaG>aaT	p.K257N	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	257						plasma membrane (GO:0005886)		p.K257N(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						ATAAAAAGAAGATACTTAAAA	0.254																																					p.K257N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G771T	9						.						9.0	11.0	10.0					9																	67938636		1502	3107	4609	67528456	SO:0001583	missense	441425	exon6			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.771G>T	9.37:g.67938636G>T	ENSP00000366697:p.Lys257Asn		67528456	NM_001012419	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	6.504	0.461222	0.12342	.	.	ENSG00000196774	ENST00000377477	T	0.37584	1.19	1.4	0.448	0.16614	Ankyrin repeat-containing domain (2);	.	.	.	.	T	0.18676	0.0448	L	0.38175	1.15	0.09310	N	1	P	0.45594	0.862	B	0.39379	0.298	T	0.13202	-1.0518	9	0.02654	T	1	.	3.5804	0.07950	0.2647:0.0:0.7353:0.0	.	257	Q5TYW2	A20A1_HUMAN	N	257	ENSP00000366697:K257N	ENSP00000366697:K257N	K	+	3	2	ANKRD20A1	67528456	0.042000	0.20092	0.004000	0.12327	0.066000	0.16364	0.569000	0.23638	0.151000	0.19162	0.184000	0.17185	AAG		0.254	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
PIP5K1B	8395	broad.mit.edu	37	9	71509318	71509318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:71509318G>T	ENST00000265382.3	+	8	840	c.535G>T	c.(535-537)Gga>Tga	p.G179*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.G179*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	179	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.G179*(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TATGCAATCAGGAGGCATTAA	0.353																																					p.G179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G535T	9						.						84.0	80.0	81.0					9																	71509318		2203	4300	6503	70699138	SO:0001587	stop_gained	8395	exon8			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.535G>T	9.37:g.71509318G>T	ENSP00000265382:p.Gly179*		70699138	NM_003558	A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Nonsense_Mutation	SNP	ENST00000265382.3	37	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.981810	0.97979	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.8222	20.1142	0.97922	0.0:0.0:1.0:0.0	.	.	.	.	X	179;179;179;126	.	ENSP00000265382:G179X	G	+	1	0	PIP5K1B	70699138	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	7.748000	0.85085	2.765000	0.95021	0.650000	0.86243	GGA		0.353	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	
PRKACG	5568	broad.mit.edu	37	9	71628877	71628877	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:71628877G>A	ENST00000377276.2	-	1	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	44	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.F44F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAGCCGTTCGAACTGATCCG	0.602																																					p.F44F	Esophageal Squamous(110;2236 2623 32146)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	9						.						91.0	89.0	90.0					9																	71628877		2203	4300	6503	70818697	SO:0001819	synonymous_variant	5568	exon1			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.132C>T	9.37:g.71628877G>A			70818697	NM_002732	O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	CCDS6625.1																																																																																				0.602	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1		
APBA1	320	broad.mit.edu	37	9	72056023	72056023	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:72056023C>A	ENST00000265381.4	-	11	2412	c.2190G>T	c.(2188-2190)aaG>aaT	p.K730N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	730	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.			K -> E (in Ref. 1; AAC05304 and 4; AAA61307). {ECO:0000305}.	axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.K730N(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGACTGATTCTTTAAGCCCT	0.483																																					p.K730N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2190T	9						.						122.0	106.0	112.0					9																	72056023		2203	4300	6503	71245843	SO:0001583	missense	320	exon11			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2190G>T	9.37:g.72056023C>A	ENSP00000265381:p.Lys730Asn		71245843	NM_001163	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062073	0.76187	.	.	ENSG00000107282	ENST00000265381	T	0.29142	1.58	5.91	5.91	0.95273	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65623	-0.6123	10	0.87932	D	0	-28.4966	10.3018	0.43656	0.0:0.8509:0.0:0.1491	.	730	Q02410	APBA1_HUMAN	N	730	ENSP00000265381:K730N	ENSP00000265381:K730N	K	-	3	2	APBA1	71245843	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.994000	0.49433	2.793000	0.96121	0.655000	0.94253	AAG		0.483	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
APBA1	320	broad.mit.edu	37	9	72067136	72067136	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:72067136C>T	ENST00000265381.4	-	9	2092	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	624	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E624K(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGAGATCTTCGGGGTTAATC	0.502																																					p.E624K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1870A	9						.						205.0	172.0	183.0					9																	72067136		2203	4300	6503	71256956	SO:0001583	missense	320	exon9			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1870G>A	9.37:g.72067136C>T	ENSP00000265381:p.Glu624Lys		71256956	NM_001163	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823790	0.90873	.	.	ENSG00000107282	ENST00000265381	T	0.04502	3.61	5.54	5.54	0.83059	Phosphotyrosine interaction domain (1);	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.00098	-1.2070	10	0.45353	T	0.12	-11.9676	19.4843	0.95024	0.0:1.0:0.0:0.0	.	624	Q02410	APBA1_HUMAN	K	624	ENSP00000265381:E624K	ENSP00000265381:E624K	E	-	1	0	APBA1	71256956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.884000	0.63135	2.610000	0.88304	0.655000	0.94253	GAA		0.502	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
APBA1	320	broad.mit.edu	37	9	72131362	72131362	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:72131362G>A	ENST00000265381.4	-	2	987	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	255	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F255F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGTAGGGCGCGAACTCGGCCT	0.682																																					p.F255F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C765T	9						.						37.0	29.0	32.0					9																	72131362		2202	4300	6502	71321182	SO:0001819	synonymous_variant	320	exon2			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.765C>T	9.37:g.72131362G>A			71321182	NM_001163	O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	CCDS6630.1																																																																																				0.682	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
SMC5	23137	broad.mit.edu	37	9	72893538	72893538	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:72893538C>T	ENST00000361138.5	+	5	733	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	225					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.L225L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAAACAGCTCGAGGTACTTT	0.358																																					p.L225L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C675T	9						.						77.0	74.0	75.0					9																	72893538		2203	4300	6503	72083358	SO:0001819	synonymous_variant	23137	exon5			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.675C>T	9.37:g.72893538C>T			72083358	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	CCDS6632.1																																																																																				0.358	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
SMC5	23137	broad.mit.edu	37	9	72962064	72962064	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:72962064G>A	ENST00000361138.5	+	20	2709	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	884					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.G884E(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCTTCACGGGACTGAATCCT	0.443																																					p.G884E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2651A	9						.						85.0	73.0	77.0					9																	72962064		2203	4300	6503	72151884	SO:0001583	missense	23137	exon20			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2651G>A	9.37:g.72962064G>A	ENSP00000354957:p.Gly884Glu		72151884	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357737	0.82243	.	.	ENSG00000198887	ENST00000361138	T	0.17370	2.28	5.91	5.91	0.95273	RecF/RecN/SMC (1);	0.102003	0.64402	D	0.000002	T	0.35711	0.0941	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.00978	-1.1493	10	0.17369	T	0.5	-30.3372	20.2963	0.98556	0.0:0.0:1.0:0.0	.	884	Q8IY18	SMC5_HUMAN	E	884	ENSP00000354957:G884E	ENSP00000354957:G884E	G	+	2	0	SMC5	72151884	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.112000	0.94314	2.813000	0.96785	0.655000	0.94253	GGA		0.443	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
TRPM3	80036	broad.mit.edu	37	9	73151980	73151980	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:73151980G>T	ENST00000377110.3	-	25	4256	c.4013C>A	c.(4012-4014)tCt>tAt	p.S1338Y	TRPM3_ENST00000396285.1_Missense_Mutation_p.S1197Y|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1197Y|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1342Y|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1187Y|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1197Y|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1200Y|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1210Y|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1200Y|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1210Y|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1365Y|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1363					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.S1210Y(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CGAATAGAAAGAATGGCTTCG	0.463																																					p.S1338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4013A	9						.						96.0	100.0	99.0					9																	73151980		2203	4300	6503	72341800	SO:0001583	missense	80036	exon25			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4013C>A	9.37:g.73151980G>T	ENSP00000366314:p.Ser1338Tyr		72341800	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.783613|3.783613	0.70222|0.70222	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.65178	.|-0.02;-0.13;-0.14;-0.14;-0.03;-0.14;-0.14;-0.13;-0.14;-0.03	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72692|0.72692	0.3492|0.3492	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D;P;D	.|0.89917	.|0.967;0.999;0.963;0.995;1.0;0.708;0.978	.|P;D;P;D;D;B;P	.|0.75484	.|0.596;0.977;0.677;0.986;0.977;0.281;0.598	T|T	0.73222|0.73222	-0.4051|-0.4051	5|10	.|0.72032	.|D	.|0.01	-16.3402|-16.3402	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1338;1328;1342;1200;1197;1310;1197	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	L|Y	1186|1338;1210;1200;1197;1342;1197;1197;1210;1200;1365	.|ENSP00000366314:S1338Y;ENSP00000366310:S1210Y;ENSP00000354066:S1200Y;ENSP00000366309:S1197Y;ENSP00000350140:S1342Y;ENSP00000386127:S1197Y;ENSP00000379581:S1197Y;ENSP00000379587:S1210Y;ENSP00000350791:S1200Y;ENSP00000389542:S1365Y	.|ENSP00000350140:S1342Y	F|S	-|-	3|2	2|0	TRPM3|TRPM3	72341800|72341800	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.230000|9.230000	0.95299|0.95299	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.463	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945	
TRPM3	80036	broad.mit.edu	37	9	73240194	73240194	+	Silent	SNP	G	G	A	rs138856820		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:73240194G>A	ENST00000377111.2	-	13	1929	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	TRPM3_ENST00000396285.1_Silent_p.I409I|TRPM3_ENST00000408909.2_Silent_p.I421I|TRPM3_ENST00000357533.2_Silent_p.I576I|TRPM3_ENST00000396280.5_Silent_p.I421I|TRPM3_ENST00000377105.1_Silent_p.I421I|TRPM3_ENST00000358082.3_Silent_p.I434I|TRPM3_ENST00000377106.1_Silent_p.I434I|TRPM3_ENST00000360823.2_Silent_p.I434I|TRPM3_ENST00000396292.4_Silent_p.I434I|TRPM3_ENST00000377110.3_Silent_p.I562I|TRPM3_ENST00000423814.3_Silent_p.I589I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	587					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I434I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCAGGTACTCGATCACCAGGC	0.557																																					p.I562I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1686T	9						.	G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	48.0	49.0	49.0		1686,1227,1263,1227,1263,1302,1302	-1.1	1.0	9	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	562/1708,409/1555,421/1567,409/1545,421/1557,434/1580,434/1570	73240194	1,13005	2203	4300	6503	72430014	SO:0001819	synonymous_variant	80036	exon13			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1686C>T	9.37:g.73240194G>A			72430014	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	10.36	1.328659	0.24167	2.27E-4	0.0	ENSG00000083067	ENST00000396280	.	.	.	6.03	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.5998	4.4624	0.11673	0.3525:0.0:0.28:0.3675	.	.	.	.	X	421	.	.	R	-	1	2	TRPM3	72430014	0.978000	0.34361	0.996000	0.52242	0.998000	0.95712	0.223000	0.17719	-0.091000	0.12440	0.555000	0.69702	CGA		0.557	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TRPM3	80036	broad.mit.edu	37	9	73240407	73240407	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:73240407G>T	ENST00000357533.2	-	13	1664	c.1665C>A	c.(1663-1665)atC>atA	p.I555I	TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000408909.2_Silent_p.I400I|TRPM3_ENST00000396280.5_Silent_p.I400I|TRPM3_ENST00000377105.1_Silent_p.I400I|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	569					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.I555I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCTTAAAATAGATCCAACCGA	0.279																																					p.I400I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1200A	9						.						59.0	63.0	62.0					9																	73240407		2203	4300	6503	72430227	SO:0001819	synonymous_variant	80036	exon13			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.1665C>A	9.37:g.73240407G>T			72430227	NM_024971	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Intron	SNP	ENST00000357533.2	37		.	.	.	.	.	.	.	.	.	.	G	8.806	0.933992	0.18206	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	T	0.77046	0.4073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73930	-0.3827	4	.	.	.	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	.	.	.	I	400	.	.	L	-	1	2	TRPM3	72430227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.385000	0.79763	2.835000	0.97688	0.650000	0.86243	CTA		0.279	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000214163.1	NM_206945	
TMEM2	23670	broad.mit.edu	37	9	74315727	74315727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:74315727G>A	ENST00000377044.4	-	19	3747	c.3208C>T	c.(3208-3210)Cga>Tga	p.R1070*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.R1007*|TMEM2_ENST00000396272.3_Nonsense_Mutation_p.R63*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1070					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1070*(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGCCAACTCGAATCCAGTCA	0.373																																					p.R1070X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3208T	9						.						82.0	78.0	80.0					9																	74315727		2203	4300	6503	73505547	SO:0001587	stop_gained	23670	exon19				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3208C>T	9.37:g.74315727G>A	ENSP00000366243:p.Arg1070*		73505547	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	38	6.772001	0.97825	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055	.	.	.	6.17	6.17	0.99709	.	0.190501	0.47093	D	0.000243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	.	.	.	X	1070;1007;63;99	.	ENSP00000366243:R1070X	R	-	1	2	TMEM2	73505547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.704000	0.74639	2.941000	0.99782	0.655000	0.94253	CGA		0.373	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMEM2	23670	broad.mit.edu	37	9	74355016	74355016	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:74355016C>A	ENST00000377044.4	-	5	1706	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	TMEM2_ENST00000377066.5_Missense_Mutation_p.Q389H	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	389					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q389H(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGAGAACTTCTGGCCATCCA	0.388																																					p.Q389H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1167T	9						.						118.0	114.0	115.0					9																	74355016		2203	4300	6503	73544836	SO:0001583	missense	23670	exon5				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1167G>T	9.37:g.74355016C>A	ENSP00000366243:p.Gln389His		73544836	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143226	0.57044	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.73469	-0.75;-0.71	5.65	5.65	0.86999	.	0.179734	0.48767	D	0.000180	T	0.79930	0.4531	L	0.57536	1.79	0.80722	D	1	D;D	0.63880	0.979;0.993	P;P	0.57244	0.659;0.816	T	0.77368	-0.2614	10	0.32370	T	0.25	.	13.9457	0.64082	0.0:0.9273:0.0:0.0727	.	389;389	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	H	389	ENSP00000366243:Q389H;ENSP00000366266:Q389H	ENSP00000366243:Q389H	Q	-	3	2	TMEM2	73544836	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.199000	0.32235	2.673000	0.90976	0.491000	0.48974	CAG		0.388	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMEM2	23670	broad.mit.edu	37	9	74360185	74360185	+	Missense_Mutation	SNP	C	C	A	rs201684156		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:74360185C>A	ENST00000377044.4	-	4	1322	c.783G>T	c.(781-783)aaG>aaT	p.K261N	TMEM2_ENST00000377066.5_Missense_Mutation_p.K261N	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	261					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K261N(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGGAAAAGTCCTTTTCAAAGG	0.502																																					p.K261N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G783T	9						.						64.0	63.0	63.0					9																	74360185		2203	4300	6503	73550005	SO:0001583	missense	23670	exon4				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.783G>T	9.37:g.74360185C>A	ENSP00000366243:p.Lys261Asn		73550005	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521575	0.64747	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.74737	-0.87;-0.81	6.03	3.23	0.37069	.	0.049385	0.85682	D	0.000000	T	0.78470	0.4288	M	0.72894	2.215	0.80722	D	1	B;P	0.51537	0.209;0.946	B;P	0.56916	0.107;0.809	T	0.73636	-0.3920	10	0.33141	T	0.24	.	6.6524	0.22969	0.1262:0.6857:0.0:0.1881	.	261;261	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	N	261	ENSP00000366243:K261N;ENSP00000366266:K261N	ENSP00000366243:K261N	K	-	3	2	TMEM2	73550005	0.981000	0.34729	0.941000	0.38009	0.953000	0.61014	0.652000	0.24888	0.446000	0.26666	0.655000	0.94253	AAG		0.502	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
TMEM2	23670	broad.mit.edu	37	9	74360390	74360390	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:74360390T>G	ENST00000377044.4	-	4	1117	c.578A>C	c.(577-579)aAa>aCa	p.K193T	TMEM2_ENST00000377066.5_Missense_Mutation_p.K193T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	193	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K193T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATAGCGGCATTTTTCTGCTCC	0.408																																					p.K193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A578C	9						.						105.0	105.0	105.0					9																	74360390		2203	4300	6503	73550210	SO:0001583	missense	23670	exon4				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.578A>C	9.37:g.74360390T>G	ENSP00000366243:p.Lys193Thr		73550210	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571299	0.45798	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.89415	-2.51;-2.51	6.17	3.86	0.44501	G8 domain (2);	0.040745	0.85682	D	0.000000	T	0.81791	0.4897	L	0.28740	0.885	0.80722	D	1	B;B	0.27316	0.127;0.175	B;B	0.33960	0.173;0.084	T	0.70425	-0.4875	10	0.11794	T	0.64	.	10.5433	0.45045	0.0:0.1292:0.0:0.8708	.	193;193	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	T	193	ENSP00000366243:K193T;ENSP00000366266:K193T	ENSP00000366243:K193T	K	-	2	0	TMEM2	73550210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.800000	0.62524	0.572000	0.29383	0.533000	0.62120	AAA		0.408	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
GDA	9615	broad.mit.edu	37	9	74842909	74842909	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:74842909C>T	ENST00000358399.3	+	9	966	c.873C>T	c.(871-873)ttC>ttT	p.F291F	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.F213F|GDA_ENST00000376989.3_Silent_p.F230F|GDA_ENST00000545168.1_Silent_p.F217F|GDA_ENST00000238018.4_Silent_p.F291F	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	291					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.F291F(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGAACGTATTCCATGAACGAG	0.448																																					p.F291F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873T	9						.						139.0	107.0	118.0					9																	74842909		2203	4300	6503	74032729	SO:0001819	synonymous_variant	9615	exon9			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.873C>T	9.37:g.74842909C>T			74032729	NM_004293	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	CCDS6641.1																																																																																				0.448	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
ALDH1A1	216	broad.mit.edu	37	9	75524601	75524601	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:75524601G>T	ENST00000297785.3	-	11	1329	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	425					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)	p.F425L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATAAGCCATAGAAAGTATTGT	0.378																																					p.F425L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1275A	9						.						182.0	163.0	170.0					9																	75524601		2203	4300	6503	74714421	SO:0001583	missense	216	exon11			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1275C>A	9.37:g.75524601G>T	ENSP00000297785:p.Phe425Leu		74714421	NM_000689	O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220423	0.22457	.	.	ENSG00000165092	ENST00000297785	T	0.15372	2.43	5.82	0.6	0.17524	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	3.898550	0.00357	N	0.000026	T	0.06962	0.0177	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26395	-1.0104	10	0.30078	T	0.28	.	3.572	0.07921	0.129:0.1105:0.5075:0.2531	.	346;425	B4DDF8;P00352	.;AL1A1_HUMAN	L	425	ENSP00000297785:F425L	ENSP00000297785:F425L	F	-	3	2	ALDH1A1	74714421	0.000000	0.05858	0.041000	0.18516	0.824000	0.46624	-0.828000	0.04419	-0.153000	0.11137	0.655000	0.94253	TTC		0.378	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1		
RORB	6096	broad.mit.edu	37	9	77257577	77257577	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:77257577T>C	ENST00000396204.2	+	4	516	c.516T>C	c.(514-516)ggT>ggC	p.G172G	RORB_ENST00000376896.3_Silent_p.G161G			Q92753	RORB_HUMAN	RAR-related orphan receptor B	172	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G161G(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TCGATTCCGGTCAGCCGTCCC	0.507																																					p.G161G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T483C	9						.						93.0	79.0	84.0					9																	77257577		2203	4300	6503	76447397	SO:0001819	synonymous_variant	6096	exon4			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.516T>C	9.37:g.77257577T>C			76447397	NM_006914	Q8WX73	Silent	SNP	ENST00000396204.2	37																																																																																					0.507	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TRPM6	140803	broad.mit.edu	37	9	77339653	77339653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:77339653C>A	ENST00000360774.1	-	39	6182	c.5945G>T	c.(5944-5946)aGa>aTa	p.R1982I	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1977I|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1986I|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1977I|TRPM6_ENST00000376872.3_Missense_Mutation_p.R937I|TRPM6_ENST00000376871.3_Missense_Mutation_p.R819I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1982					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1982I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATAGTCATTTCTTTTTAAATC	0.413																																					p.R1977I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5930T	9						.						89.0	94.0	92.0					9																	77339653		2203	4300	6503	76529473	SO:0001583	missense	140803	exon39			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5945G>T	9.37:g.77339653C>A	ENSP00000354006:p.Arg1982Ile		76529473	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095186	0.76870	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32	5.69	3.86	0.44501	Protein kinase-like domain (1);	0.050014	0.85682	D	0.000000	T	0.23171	0.0560	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.76071	0.91;0.957;0.968;0.97;0.972;0.987	T	0.00473	-1.1718	10	0.87932	D	0	.	12.3371	0.55073	0.0:0.8616:0.0:0.1384	.	529;815;933;1982;1977;1977	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	I	1982;1986;937;819;1977;1977;528	ENSP00000354006:R1982I;ENSP00000407341:R1986I;ENSP00000366068:R937I;ENSP00000366067:R819I;ENSP00000396672:R1977I;ENSP00000354962:R1977I	ENSP00000354006:R1982I	R	-	2	0	TRPM6	76529473	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	2.866000	0.48420	0.767000	0.33267	0.655000	0.94253	AGA		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77397655	77397655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:77397655C>A	ENST00000360774.1	-	22	3271	c.3034G>T	c.(3034-3036)Gat>Tat	p.D1012Y	TRPM6_ENST00000376864.4_Missense_Mutation_p.D1012Y|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1007Y|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1012Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1007Y|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1012					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D1012Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AATACAATATCTCGAGCTAGA	0.453																																					p.D1007Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3019T	9						.						142.0	119.0	127.0					9																	77397655		2203	4300	6503	76587475	SO:0001583	missense	140803	exon22			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3034G>T	9.37:g.77397655C>A	ENSP00000354006:p.Asp1012Tyr		76587475	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137285	0.77775	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.57107	0.51;0.51;0.51;0.51;0.42	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.87578	0.997;0.998;0.614	T	0.75863	-0.3167	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	675;1012;1007	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	Y	1012;1012;1007;1007;1012;675;675	ENSP00000354006:D1012Y;ENSP00000407341:D1012Y;ENSP00000396672:D1007Y;ENSP00000354962:D1007Y;ENSP00000366060:D1012Y	ENSP00000309693:D675Y	D	-	1	0	TRPM6	76587475	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	3.248000	0.51430	2.813000	0.96785	0.561000	0.74099	GAT		0.453	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
GCNT1	2650	broad.mit.edu	37	9	79117542	79117542	+	Missense_Mutation	SNP	T	T	G	rs138234792		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79117542T>G	ENST00000376730.4	+	4	728	c.245T>G	c.(244-246)tTt>tGt	p.F82C	GCNT1_ENST00000536223.1_Missense_Mutation_p.F82C|GCNT1_ENST00000442371.1_Missense_Mutation_p.F82C|GCNT1_ENST00000444201.2_Missense_Mutation_p.F82C	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	82	Stem region. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.F82C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ACAGTGAAATTTAAAAAGCGC	0.393																																					p.F82C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T245G	9						.						103.0	107.0	105.0					9																	79117542		2203	4300	6503	78307362	SO:0001583	missense	2650	exon3			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.245T>G	9.37:g.79117542T>G	ENSP00000365920:p.Phe82Cys		78307362	NM_001097635	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	t	11.14	1.551674	0.27739	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.84	5.84	0.93424	.	0.500761	0.22078	N	0.064931	T	0.68284	0.2984	M	0.70595	2.14	0.41466	D	0.988071	D	0.71674	0.998	P	0.56343	0.796	T	0.70385	-0.4886	9	.	.	.	.	11.3276	0.49458	0.1356:0.0:0.0:0.8644	.	82	Q02742	GCNT1_HUMAN	C	82	ENSP00000440883:F82C;ENSP00000415454:F82C;ENSP00000390703:F82C;ENSP00000365920:F82C	.	F	+	2	0	GCNT1	78307362	1.000000	0.71417	0.077000	0.20336	0.236000	0.25371	3.141000	0.50593	2.230000	0.72887	0.528000	0.53228	TTT		0.393	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
PRUNE2	158471	broad.mit.edu	37	9	79321271	79321271	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79321271G>T	ENST00000376718.3	-	8	6042	c.5919C>A	c.(5917-5919)gcC>gcA	p.A1973A	PRUNE2_ENST00000428286.1_Silent_p.A1614A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1973					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.A1973A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGTGAGTAAAGGCTGTGTCCG	0.453																																					p.A1973A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5919A	9						.						138.0	120.0	126.0					9																	79321271		1568	3582	5150	78511091	SO:0001819	synonymous_variant	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5919C>A	9.37:g.79321271G>T			78511091	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.563636	0.00903	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.51	-7.47	0.01365	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21518	-1.0243	4	.	.	.	0.3673	1.0245	0.01525	0.1882:0.1731:0.3076:0.3311	.	.	.	.	I	1295	.	.	L	-	1	0	PRUNE2	78511091	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.147000	0.10234	-1.649000	0.01508	-0.397000	0.06425	CTT		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	broad.mit.edu	37	9	79322012	79322012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79322012G>T	ENST00000376718.3	-	8	5301	c.5178C>A	c.(5176-5178)ttC>ttA	p.F1726L	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F1367L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1726					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.F1726L(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTGACCAAGAACTTATTAG	0.433																																					p.F1726L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5178A	9						.						138.0	115.0	122.0					9																	79322012		1568	3582	5150	78511832	SO:0001583	missense	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5178C>A	9.37:g.79322012G>T	ENSP00000365908:p.Phe1726Leu		78511832	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.552|3.552	-0.091391|-0.091391	0.07053|0.07053	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44881|.	0.91;0.92|.	5.89|5.89	3.75|3.75	0.43078|0.43078	.|.	0.659654|.	0.14115|.	N|.	0.340454|.	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P|.	0.38922|.	0.651|.	B|.	0.30401|.	0.115|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.20046|.	T|.	0.44|.	-0.4038|-0.4038	10.3031|10.3031	0.43663|0.43663	0.2272:0.0:0.7728:0.0|0.2272:0.0:0.7728:0.0	.|.	1726|.	Q8WUY3|.	PRUN2_HUMAN|.	L|I	1726;1367;1725|1048	ENSP00000365908:F1726L;ENSP00000397425:F1367L|.	ENSP00000365908:F1726L|.	F|L	-|-	3|1	2|0	PRUNE2|PRUNE2	78511832|78511832	0.266000|0.266000	0.24112|0.24112	0.671000|0.671000	0.29857|0.29857	0.686000|0.686000	0.39977|0.39977	1.816000|1.816000	0.38992|0.38992	1.506000|1.506000	0.48736|0.48736	0.643000|0.643000	0.83706|0.83706	TTC|CTT		0.433	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	broad.mit.edu	37	9	79322192	79322192	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79322192T>C	ENST00000376718.3	-	8	5121	c.4998A>G	c.(4996-4998)gaA>gaG	p.E1666E	PRUNE2_ENST00000428286.1_Silent_p.E1307E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1666					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E1666E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAATGTCATGTTCATTTTTCT	0.443																																					p.E1666E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4998G	9						.						75.0	62.0	66.0					9																	79322192		1568	3582	5150	78512012	SO:0001819	synonymous_variant	158471	exon8			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4998A>G	9.37:g.79322192T>C			78512012	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	2.472	-0.321767	0.05386	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.83	-4.02	0.04034	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.20074	N	0.999931	.	.	.	.	.	.	T	0.36163	-0.9759	4	.	.	.	-2.6821	8.6439	0.33994	0.0:0.5274:0.1237:0.3489	.	.	.	.	A	988	.	.	T	-	1	0	PRUNE2	78512012	0.000000	0.05858	0.003000	0.11579	0.683000	0.39861	-0.359000	0.07632	-0.660000	0.05352	0.533000	0.62120	ACA		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79820894	79820894	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79820894G>T	ENST00000360280.3	+	5	544	c.284G>T	c.(283-285)aGa>aTa	p.R95I	VPS13A_ENST00000376634.4_Splice_Site_p.R95I|VPS13A_ENST00000376636.3_Splice_Site_p.R95I|VPS13A_ENST00000357409.5_Splice_Site_p.R95I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	95					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R95I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTCCTATAGGAATAAAATAT	0.308																																					p.R95I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G284T	9						.						43.0	44.0	44.0					9																	79820894		2195	4280	6475	79010714	SO:0001630	splice_region_variant	23230	exon5			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.284-1G>T	9.37:g.79820894G>T			79010714	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092846|2.092846	0.36952|0.36952	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000545365	D;D;D;D|.	0.82433|.	-1.61;-1.61;-1.61;-1.61|.	5.34|5.34	-0.134|-0.134	0.13481|0.13481	.|.	0.342132|0.342132	0.29119|0.29119	N|N	0.013093|0.013093	T|T	0.34077|0.34077	0.0885|0.0885	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.06786|.	0.0;0.001;0.001;0.0|.	B;B;B;B|.	0.09377|.	0.002;0.004;0.002;0.002|.	T|T	0.04413|0.04413	-1.0953|-1.0953	9|6	.|.	.|.	.|.	.|.	11.1194|11.1194	0.48279|0.48279	0.1061:0.0:0.7256:0.1683|0.1061:0.0:0.7256:0.1683	.|.	95;95;95;95|.	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;VP13A_HUMAN;.;.|.	I|S	95|48	ENSP00000365821:R95I;ENSP00000365823:R95I;ENSP00000353422:R95I;ENSP00000349985:R95I|.	.|.	R|R	+|+	2|3	0|2	VPS13A|VPS13A	79010714|79010714	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.951000|0.951000	0.60555|0.60555	1.287000|1.287000	0.33284|0.33284	0.066000|0.066000	0.16515|0.16515	0.650000|0.650000	0.86243|0.86243	AGA|AGG		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	Missense_Mutation
VPS13A	23230	broad.mit.edu	37	9	79824399	79824399	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79824399A>C	ENST00000360280.3	+	6	706	c.446A>C	c.(445-447)aAa>aCa	p.K149T	VPS13A_ENST00000376634.4_Missense_Mutation_p.K149T|VPS13A_ENST00000376636.3_Missense_Mutation_p.K149T|VPS13A_ENST00000357409.5_Missense_Mutation_p.K149T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	149					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.K149T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGATCATAAAAAATCTTCAG	0.254																																					p.K149T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A446C	9						.						36.0	38.0	37.0					9																	79824399		2203	4289	6492	79014219	SO:0001583	missense	23230	exon6			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.446A>C	9.37:g.79824399A>C	ENSP00000353422:p.Lys149Thr		79014219	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303527	0.81136	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.49139	0.95;0.79;0.87;0.95	5.71	5.71	0.89125	.	0.106862	0.64402	D	0.000007	T	0.65933	0.2739	M	0.87180	2.865	0.80722	D	1	P;D;D;D	0.59357	0.953;0.983;0.985;0.973	P;P;P;P	0.56434	0.798;0.632;0.798;0.798	T	0.72014	-0.4418	10	0.62326	D	0.03	.	10.8152	0.46571	0.9255:0.0:0.0745:0.0	.	149;149;149;149	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	T	149	ENSP00000365821:K149T;ENSP00000365823:K149T;ENSP00000353422:K149T;ENSP00000349985:K149T	ENSP00000349985:K149T	K	+	2	0	VPS13A	79014219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.666000	0.68059	2.183000	0.69458	0.533000	0.62120	AAA		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79834915	79834915	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79834915G>A	ENST00000360280.3	+	11	1060	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	VPS13A_ENST00000376634.4_Missense_Mutation_p.R267Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R267Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R267Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	267					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R267Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATGAATCGCCGATCTGATTTT	0.308																																					p.R267Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G800A	9						.						81.0	82.0	82.0					9																	79834915		2203	4299	6502	79024735	SO:0001583	missense	23230	exon11			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.800G>A	9.37:g.79834915G>A	ENSP00000353422:p.Arg267Gln		79024735	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028368	0.93518	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46819	1.03;0.86;0.94;1.03	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	P;D;D;D	0.83275	0.906;0.996;0.984;0.984	T	0.64563	-0.6378	10	0.19590	T	0.45	.	19.3762	0.94510	0.0:0.0:1.0:0.0	.	267;267;267;267	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	267	ENSP00000365821:R267Q;ENSP00000365823:R267Q;ENSP00000353422:R267Q;ENSP00000349985:R267Q	ENSP00000349985:R267Q	R	+	2	0	VPS13A	79024735	1.000000	0.71417	0.995000	0.50966	0.655000	0.38815	9.091000	0.94151	2.591000	0.87537	0.561000	0.74099	CGA		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79897094	79897094	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79897094A>C	ENST00000360280.3	+	29	3282	c.3022A>C	c.(3022-3024)Aat>Cat	p.N1008H	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1008H|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1008H|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1008H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1008					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.N1008H(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAATACAATAAATTATCTTCA	0.323																																					p.N1008H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3022C	9						.						70.0	75.0	73.0					9																	79897094		2202	4295	6497	79086914	SO:0001583	missense	23230	exon29			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3022A>C	9.37:g.79897094A>C	ENSP00000353422:p.Asn1008His		79086914	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117240	0.56505	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.18	4.02	0.46733	.	0.053759	0.64402	D	0.000001	T	0.38904	0.1058	M	0.69823	2.125	0.80722	D	1	P;P;D;P	0.56521	0.659;0.811;0.976;0.881	P;P;P;P	0.57960	0.694;0.602;0.83;0.776	T	0.20840	-1.0263	10	0.66056	D	0.02	.	11.836	0.52323	0.853:0.147:0.0:0.0	.	1008;1008;1008;1008	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	1008	ENSP00000365821:N1008H;ENSP00000365823:N1008H;ENSP00000353422:N1008H;ENSP00000349985:N1008H	ENSP00000349985:N1008H	N	+	1	0	VPS13A	79086914	1.000000	0.71417	0.987000	0.45799	0.694000	0.40290	7.449000	0.80643	0.791000	0.33826	-0.460000	0.05396	AAT		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79908403	79908403	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:79908403G>A	ENST00000360280.3	+	32	3746	c.3486G>A	c.(3484-3486)acG>acA	p.T1162T	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1162T|VPS13A_ENST00000376636.3_Silent_p.T1123T|VPS13A_ENST00000357409.5_Silent_p.T1162T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1162					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.T1162T(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTTGTCACGAAATTTCTAT	0.279																																					p.T1123T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3369A	9						.						73.0	71.0	72.0					9																	79908403		2203	4299	6502	79098223	SO:0001819	synonymous_variant	23230	exon31			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3486G>A	9.37:g.79908403G>A			79098223	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1																																																																																				0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	80018180	80018180	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:80018180A>G	ENST00000360280.3	+	69	9478	c.9218A>G	c.(9217-9219)tAc>tGc	p.Y3073C	VPS13A_ENST00000376646.3_Missense_Mutation_p.Y9C|VPS13A_ENST00000484581.2_Missense_Mutation_p.Y9C|VPS13A_ENST00000376636.3_Missense_Mutation_p.Y3034C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3073					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.Y3073C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTGCAAAATACAAATATTTT	0.308																																					p.Y3034C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9101G	9						.						88.0	87.0	87.0					9																	80018180		2202	4298	6500	79208000	SO:0001583	missense	23230	exon68			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.9218A>G	9.37:g.80018180A>G	ENSP00000353422:p.Tyr3073Cys		79208000	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207394	0.58343	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.66460	0.83;0.91;-0.21;-0.21	5.77	1.9	0.25705	.	0.396585	0.28736	N	0.014317	T	0.68054	0.2959	L	0.48642	1.525	0.39478	D	0.967834	D;P	0.62365	0.991;0.911	D;B	0.64237	0.923;0.39	T	0.66073	-0.6014	9	.	.	.	.	5.026	0.14385	0.6497:0.0:0.1569:0.1933	.	3034;3073	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	C	3034;3073;9;9	ENSP00000365823:Y3034C;ENSP00000353422:Y3073C;ENSP00000446020:Y9C;ENSP00000365834:Y9C	.	Y	+	2	0	VPS13A	79208000	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	2.042000	0.41222	1.018000	0.39521	0.528000	0.53228	TAC		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
GNA14	9630	broad.mit.edu	37	9	80144098	80144098	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:80144098C>T	ENST00000341700.6	-	2	709	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	66					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E66K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TTTCTGTCTTCGTCGCTGTAA	0.453																																					p.E66K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	9						.						345.0	321.0	329.0					9																	80144098		2203	4300	6503	79333918	SO:0001583	missense	9630	exon2			AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.196G>A	9.37:g.80144098C>T	ENSP00000365807:p.Glu66Lys		79333918	NM_004297	B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417410	0.83449	.	.	ENSG00000156049	ENST00000341700	D	0.89681	-2.55	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.098075	0.64402	D	0.000001	D	0.89563	0.6751	M	0.73372	2.23	0.80722	D	1	B	0.28208	0.203	B	0.26770	0.073	D	0.87018	0.2127	10	0.87932	D	0	.	20.4025	0.99000	0.0:1.0:0.0:0.0	.	66	O95837	GNA14_HUMAN	K	66	ENSP00000365807:E66K	ENSP00000365807:E66K	E	-	1	0	GNA14	79333918	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.815000	0.86186	2.828000	0.97474	0.650000	0.86243	GAA		0.453	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		
GNAQ	2776	broad.mit.edu	37	9	80336400	80336400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:80336400C>A	ENST00000286548.4	-	7	1141	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	GNAQ_ENST00000397476.3_Nonsense_Mutation_p.E105*	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	307					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.E307*(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGAATGAATTCTCGGGCTGCC	0.473			Mis		uveal melanoma																																p.E307X			Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G919T	9						.						104.0	96.0	98.0					9																	80336400		2203	4300	6503	79526220	SO:0001587	stop_gained	2776	exon7				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.919G>T	9.37:g.80336400C>A	ENSP00000286548:p.Glu307*		79526220	NM_002072	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.285393	0.97444	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	307;105	.	ENSP00000286548:E307X	E	-	1	0	GNAQ	79526220	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.771000	0.85420	2.857000	0.98124	0.650000	0.86243	GAA		0.473	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072	
CEP78	84131	broad.mit.edu	37	9	80863213	80863213	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:80863213C>A	ENST00000424347.2	+	7	1188	c.899C>A	c.(898-900)tCt>tAt	p.S300Y	CEP78_ENST00000376598.2_Missense_Mutation_p.S300Y|CEP78_ENST00000277082.5_Missense_Mutation_p.S300Y|CEP78_ENST00000376597.4_Missense_Mutation_p.S300Y|CEP78_ENST00000415759.2_Missense_Mutation_p.S300Y			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	300					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S300Y(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TTAGATCATTCTATGATGAAA	0.289																																					p.S300Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899A	9						.						54.0	54.0	54.0					9																	80863213		1782	4065	5847	80053033	SO:0001583	missense	84131	exon7			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.899C>A	9.37:g.80863213C>A	ENSP00000411284:p.Ser300Tyr		80053033	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	C	17.79	3.476519	0.63737	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.03	4.11	0.48088	.	0.438594	0.24249	N	0.040196	T	0.61664	0.2365	L	0.53249	1.67	0.31513	N	0.663349	D;D;D;D	0.71674	0.993;0.991;0.998;0.993	P;P;D;P	0.65443	0.641;0.77;0.935;0.758	T	0.64495	-0.6394	10	0.62326	D	0.03	-6.0991	8.0263	0.30438	0.0:0.7261:0.1496:0.1243	.	213;300;300;300	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	Y	300	ENSP00000411284:S300Y;ENSP00000399286:S300Y;ENSP00000365782:S300Y;ENSP00000277082:S300Y;ENSP00000365783:S300Y	ENSP00000277082:S300Y	S	+	2	0	CEP78	80053033	0.083000	0.21467	1.000000	0.80357	0.992000	0.81027	0.353000	0.20130	2.861000	0.98227	0.655000	0.94253	TCT		0.289	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
PSAT1	29968	broad.mit.edu	37	9	80916919	80916919	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:80916919G>T	ENST00000376588.3	+	3	239	c.171G>T	c.(169-171)gaG>gaT	p.E57D	PSAT1_ENST00000347159.2_Missense_Mutation_p.E57D	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	57					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.E57D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						ACAATACAGAGAATCTTGTGC	0.328																																					p.E57D	Colon(34;187 791 10662 18313 37609)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	9						.						120.0	119.0	119.0					9																	80916919		2203	4300	6503	80106739	SO:0001583	missense	29968	exon3			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.171G>T	9.37:g.80916919G>T	ENSP00000365773:p.Glu57Asp		80106739	NM_058179	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880953	0.51801	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.87491	-2.26;-2.26	5.42	5.42	0.78866	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.88640	2.97	0.49687	D	0.999818	P;B	0.48503	0.911;0.172	P;B	0.47430	0.547;0.233	D	0.90587	0.4534	10	0.87932	D	0	-18.3788	7.0518	0.25077	0.2072:0.0:0.7928:0.0	.	57;57	Q9Y617-2;Q9Y617	.;SERC_HUMAN	D	57	ENSP00000317606:E57D;ENSP00000365773:E57D	ENSP00000317606:E57D	E	+	3	2	PSAT1	80106739	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.957000	0.63652	2.542000	0.85734	0.655000	0.94253	GAG		0.328	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154	
TLE4	7091	broad.mit.edu	37	9	82336719	82336719	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:82336719C>A	ENST00000376552.2	+	17	2920	c.1902C>A	c.(1900-1902)ctC>ctA	p.L634L	TLE4_ENST00000265284.6_Silent_p.L609L|TLE4_ENST00000376534.4_Silent_p.L271L|TLE4_ENST00000376537.4_Silent_p.L666L|TLE4_ENST00000376544.3_Silent_p.L565L|TLE4_ENST00000376520.4_Silent_p.L666L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	634					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.L634L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCACCAAGCTCTGGACAGGTG	0.552																																					p.L634L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902A	9						.						77.0	77.0	77.0					9																	82336719		2203	4300	6503	81526539	SO:0001819	synonymous_variant	7091	exon17			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1902C>A	9.37:g.82336719C>A			81526539	NM_007005	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	CCDS43837.1																																																																																				0.552	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237	
SPATA31D1	389763	broad.mit.edu	37	9	84608635	84608635	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:84608635G>A	ENST00000344803.2	+	4	3297	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1084					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D1084N(2)									GACAACAGAGGATGGCAGACA	0.507																																					p.D1084N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3250A	9						.						45.0	47.0	47.0					9																	84608635		1917	4125	6042	83798455	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3250G>A	9.37:g.84608635G>A	ENSP00000341988:p.Asp1084Asn		83798455	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944142	0.34283	.	.	ENSG00000214929	ENST00000344803	T	0.05925	3.37	2.67	-3.64	0.04515	.	.	.	.	.	T	0.02418	0.0074	N	0.14661	0.345	0.09310	N	1	B	0.33044	0.395	B	0.29267	0.1	T	0.43893	-0.9363	9	0.17369	T	0.5	-0.0136	1.4844	0.02444	0.1214:0.3256:0.224:0.329	.	1084	Q6ZQQ2	F75D1_HUMAN	N	1084	ENSP00000341988:D1084N	ENSP00000341988:D1084N	D	+	1	0	FAM75D1	83798455	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.880000	0.04183	-0.888000	0.03956	0.603000	0.83216	GAT		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31D1	389763	broad.mit.edu	37	9	84609655	84609655	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:84609655G>T	ENST00000344803.2	+	4	4317	c.4270G>T	c.(4270-4272)Gat>Tat	p.D1424Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1424					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.D1424Y(2)									GCATGGGATAGATATCACCTG	0.517																																					p.D1424Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4270T	9						.						38.0	38.0	38.0					9																	84609655		1893	4119	6012	83799475	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4270G>T	9.37:g.84609655G>T	ENSP00000341988:p.Asp1424Tyr		83799475	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341862	0.24339	.	.	ENSG00000214929	ENST00000344803	T	0.05513	3.43	3.13	0.451	0.16629	.	.	.	.	.	T	0.03564	0.0102	L	0.27053	0.805	0.09310	N	1	B	0.33807	0.426	B	0.25405	0.06	T	0.40720	-0.9548	9	0.54805	T	0.06	0.2306	2.1376	0.03766	0.2682:0.0:0.4634:0.2684	.	1424	Q6ZQQ2	F75D1_HUMAN	Y	1424	ENSP00000341988:D1424Y	ENSP00000341988:D1424Y	D	+	1	0	FAM75D1	83799475	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.302000	0.19192	0.070000	0.16634	0.655000	0.94253	GAT		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
RASEF	158158	broad.mit.edu	37	9	85615939	85615939	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:85615939C>T	ENST00000376447.3	-	10	1569	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	437					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.D437N(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAGCCGCTGTCGAAGCAGCTT	0.532																																					p.D437N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1309A	9						.						75.0	71.0	73.0					9																	85615939		2203	4300	6503	84805759	SO:0001583	missense	158158	exon10			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1309G>A	9.37:g.85615939C>T	ENSP00000365630:p.Asp437Asn		84805759	NM_152573	A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368646	0.95900	.	.	ENSG00000165105	ENST00000376447	T	0.69175	-0.38	5.92	5.92	0.95590	.	0.106311	0.64402	D	0.000008	T	0.81138	0.4760	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.81409	-0.0946	10	0.87932	D	0	.	19.9242	0.97098	0.0:1.0:0.0:0.0	.	437	Q8IZ41	RASEF_HUMAN	N	437	ENSP00000365630:D437N	ENSP00000365630:D437N	D	-	1	0	RASEF	84805759	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	5.224000	0.65288	2.814000	0.96858	0.585000	0.79938	GAC		0.532	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	
FRMD3	257019	broad.mit.edu	37	9	85950442	85950442	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:85950442T>C	ENST00000304195.3	-	6	791	c.585A>G	c.(583-585)aaA>aaG	p.K195K	FRMD3_ENST00000376438.1_Silent_p.K195K	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	195	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.K91K(1)|p.K195K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAGTTCATTTTTATGAATTT	0.373																																					p.K195K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A585G	9						.						109.0	96.0	100.0					9																	85950442		1834	4076	5910	85140262	SO:0001819	synonymous_variant	257019	exon6			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.585A>G	9.37:g.85950442T>C			85140262	NM_174938	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	CCDS43840.1																																																																																				0.373	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
FRMD3	257019	broad.mit.edu	37	9	85958182	85958182	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:85958182A>C	ENST00000304195.3	-	5	601	c.395T>G	c.(394-396)aTt>aGt	p.I132S	FRMD3_ENST00000376438.1_Missense_Mutation_p.I132S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	132	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.I132S(1)|p.I28S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GTCCCTTTTAATCTGAAGGTA	0.458																																					p.I132S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T395G	9						.						83.0	87.0	86.0					9																	85958182		1976	4164	6140	85148002	SO:0001583	missense	257019	exon5			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.395T>G	9.37:g.85958182A>C	ENSP00000303508:p.Ile132Ser		85148002	NM_174938	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725269	0.89298	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.77750	-1.12;-1.12	6.17	6.17	0.99709	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.111982	0.64402	D	0.000009	D	0.87014	0.6072	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66497	0.944;0.935	D	0.88114	0.2827	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	132;132	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	S	132;132;28	ENSP00000365621:I132S;ENSP00000303508:I132S	ENSP00000303508:I132S	I	-	2	0	FRMD3	85148002	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.184000	0.94893	2.371000	0.80710	0.533000	0.62120	ATT		0.458	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
KIF27	55582	broad.mit.edu	37	9	86452199	86452199	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:86452199G>T	ENST00000297814.2	-	18	4066	c.3923C>A	c.(3922-3924)tCt>tAt	p.S1308Y	KIF27_ENST00000413982.1_Missense_Mutation_p.S1242Y|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.S1211Y|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1308					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1308Y(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGGTGCTAAAGAACTATGAAT	0.398																																					p.S1308Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3923A	9						.						29.0	32.0	31.0					9																	86452199		2201	4279	6480	85642019	SO:0001583	missense	55582	exon18			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3923C>A	9.37:g.86452199G>T	ENSP00000297814:p.Ser1308Tyr		85642019	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839999	0.32513	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72725	-0.64;-0.68;-0.57	3.8	3.8	0.43715	.	0.256528	0.26951	N	0.021666	T	0.73094	0.3543	L	0.27053	0.805	0.30154	N	0.802832	D;P;P	0.69078	0.997;0.942;0.904	D;P;B	0.78314	0.991;0.458;0.269	T	0.71002	-0.4718	10	0.72032	D	0.01	.	11.4246	0.50003	0.0:0.0:1.0:0.0	.	1211;1242;1308	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Y	1308;1242;1211	ENSP00000297814:S1308Y;ENSP00000401688:S1242Y;ENSP00000333928:S1211Y	ENSP00000297814:S1308Y	S	-	2	0	KIF27	85642019	1.000000	0.71417	0.970000	0.41538	0.778000	0.44026	2.943000	0.49026	2.120000	0.65058	0.580000	0.79431	TCT		0.398	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
KIF27	55582	broad.mit.edu	37	9	86457176	86457176	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:86457176G>A	ENST00000297814.2	-	17	3840	c.3697C>T	c.(3697-3699)Cgg>Tgg	p.R1233W	KIF27_ENST00000413982.1_Missense_Mutation_p.R1167W|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1136W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1233					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1233W(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AGTTGCCGCCGAATTGCTTCC	0.403																																					p.R1233W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3697T	9						.						74.0	66.0	69.0					9																	86457176		2203	4300	6503	85646996	SO:0001583	missense	55582	exon17			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3697C>T	9.37:g.86457176G>A	ENSP00000297814:p.Arg1233Trp		85646996	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729134	0.48833	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.70749	-0.51;-0.51;-0.37	4.24	4.24	0.50183	.	0.703319	0.12462	N	0.466797	T	0.71787	0.3381	L	0.47716	1.5	0.09310	N	1	D;B;B	0.67145	0.996;0.008;0.005	P;B;B	0.50896	0.653;0.002;0.001	T	0.63915	-0.6529	10	0.62326	D	0.03	.	12.6021	0.56503	0.0:0.166:0.834:0.0	.	1136;1167;1233	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	1233;1167;1136	ENSP00000297814:R1233W;ENSP00000401688:R1167W;ENSP00000333928:R1136W	ENSP00000297814:R1233W	R	-	1	2	KIF27	85646996	0.019000	0.18553	0.041000	0.18516	0.833000	0.47200	1.295000	0.33377	2.201000	0.70794	0.465000	0.42564	CGG		0.403	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
KIF27	55582	broad.mit.edu	37	9	86514698	86514698	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:86514698C>A	ENST00000297814.2	-	5	1623	c.1480G>T	c.(1480-1482)Gta>Tta	p.V494L	KIF27_ENST00000413982.1_Missense_Mutation_p.V494L|KIF27_ENST00000334204.2_Missense_Mutation_p.V494L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	494					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V494L(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTAAATACTACTTCATCAGCA	0.403																																					p.V494L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1480T	9						.						131.0	93.0	106.0					9																	86514698		2203	4300	6503	85704518	SO:0001583	missense	55582	exon5			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1480G>T	9.37:g.86514698C>A	ENSP00000297814:p.Val494Leu		85704518	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193638	0.38707	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.55588	0.51;0.51;0.51	3.85	3.85	0.44370	.	0.128538	0.31797	N	0.007043	T	0.51312	0.1667	L	0.51422	1.61	0.29686	N	0.84128	P;B;B	0.45715	0.865;0.136;0.067	P;B;B	0.45406	0.479;0.071;0.048	T	0.52771	-0.8531	10	0.27785	T	0.31	.	15.551	0.76152	0.0:1.0:0.0:0.0	.	494;494;494	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	L	494	ENSP00000297814:V494L;ENSP00000401688:V494L;ENSP00000333928:V494L	ENSP00000297814:V494L	V	-	1	0	KIF27	85704518	0.997000	0.39634	0.998000	0.56505	0.837000	0.47467	1.463000	0.35277	1.982000	0.57802	0.585000	0.79938	GTA		0.403	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
RMI1	80010	broad.mit.edu	37	9	86616676	86616676	+	Missense_Mutation	SNP	G	G	A	rs138543013		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:86616676G>A	ENST00000325875.3	+	3	1107	c.775G>A	c.(775-777)Gca>Aca	p.A259T		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	259				A -> T (in Ref. 1; BAB14325). {ECO:0000305}.	DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.A259T(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGAGCTTACAGCAAATAATGA	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.0				p.A259T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	9						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	142.0	132.0	136.0		775	3.6	0.8	9	dbSNP_134	136	0,8600		0,0,4300	no	missense	RMI1	NM_024945.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	259/626	86616676	1,13005	2203	4300	6503	85806496	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.775G>A	9.37:g.86616676G>A	ENSP00000317039:p.Ala259Thr		85806496	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.842	-0.033622	0.07543	2.27E-4	0.0	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.46819	0.86;1.47	5.41	3.56	0.40772	.	1.021290	0.07813	N	0.958501	T	0.38799	0.1054	M	0.64997	1.995	0.09310	N	1	P	0.35433	0.501	B	0.27608	0.081	T	0.25779	-1.0122	10	0.15499	T	0.54	-4.685	5.935	0.19161	0.0715:0.2332:0.5611:0.1342	.	259	Q9H9A7	RMI1_HUMAN	T	259	ENSP00000402433:A259T;ENSP00000317039:A259T	ENSP00000317039:A259T	A	+	1	0	RMI1	85806496	0.945000	0.32115	0.807000	0.32361	0.451000	0.32288	1.146000	0.31589	0.758000	0.33059	0.655000	0.94253	GCA		0.393	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
RMI1	80010	broad.mit.edu	37	9	86617158	86617158	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:86617158G>T	ENST00000325875.3	+	3	1589	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	419					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.K419N(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATAAAGAAAAGAACTTAGAGA	0.308																																					p.K419N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1257T	9						.						50.0	60.0	56.0					9																	86617158		2191	4271	6462	85806978	SO:0001583	missense	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1257G>T	9.37:g.86617158G>T	ENSP00000317039:p.Lys419Asn		85806978	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.218160	0.01542	.	.	ENSG00000178966	ENST00000325875	T	0.32988	1.43	5.16	1.25	0.21368	.	0.854095	0.10308	N	0.690394	T	0.19644	0.0472	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30119	-0.9989	9	.	.	.	-2.0E-4	4.7523	0.13066	0.3789:0.1516:0.4695:0.0	.	419	Q9H9A7	RMI1_HUMAN	N	419	ENSP00000317039:K419N	.	K	+	3	2	RMI1	85806978	0.006000	0.16342	0.207000	0.23584	0.516000	0.34256	0.470000	0.22084	0.026000	0.15269	0.655000	0.94253	AAG		0.308	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
AGTPBP1	23287	broad.mit.edu	37	9	88162071	88162071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88162071C>A	ENST00000357081.3	-	26	3778	c.3634G>T	c.(3634-3636)Gaa>Taa	p.E1212*	AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.E1172*|AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.E1224*			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1212					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1172*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AGTACTTCTTCTTGAGCAGAA	0.368																																					p.E1172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3514T	9						.						146.0	136.0	140.0					9																	88162071		2203	4300	6503	87351891	SO:0001587	stop_gained	23287	exon26			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.3634G>T	9.37:g.88162071C>A	ENSP00000349592:p.Glu1212*		87351891	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	41	8.652833	0.98901	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	.	.	.	6.03	5.12	0.69794	.	0.305617	0.37715	N	0.001976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.0984	15.7129	0.77644	0.0:0.9337:0.0:0.0663	.	.	.	.	X	1212;1172;1224	.	ENSP00000349592:E1212X	E	-	1	0	AGTPBP1	87351891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.056000	0.57448	2.861000	0.98227	0.655000	0.94253	GAA		0.368	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
AGTPBP1	23287	broad.mit.edu	37	9	88261274	88261274	+	Missense_Mutation	SNP	C	C	T	rs538837935		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88261274C>T	ENST00000357081.3	-	12	1291	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.E343K|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.E221K|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.E395K			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	383					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E343K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCTCAGTTTCGTTTTCAGCT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		17343	0.0		0.0	False		,,,				2504	0.001				p.E343K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	9						.						201.0	181.0	188.0					9																	88261274		2202	4300	6502	87451094	SO:0001583	missense	23287	exon12			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1147G>A	9.37:g.88261274C>T	ENSP00000349592:p.Glu383Lys		87451094	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.090658	0.76756	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.57	5.57	0.84162	.	0.045223	0.85682	D	0.000000	T	0.47229	0.1434	M	0.62723	1.935	0.80722	D	1	P;P;D;P	0.54772	0.951;0.455;0.968;0.884	B;B;B;B	0.42827	0.191;0.037;0.399;0.112	T	0.54275	-0.8318	10	0.66056	D	0.02	-27.1518	19.5476	0.95305	0.0:1.0:0.0:0.0	.	395;383;221;343	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	K	383;343;395;221	ENSP00000349592:E383K;ENSP00000365251:E343K;ENSP00000365277:E395K;ENSP00000402804:E221K	ENSP00000349592:E383K	E	-	1	0	AGTPBP1	87451094	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.886000	0.75611	2.616000	0.88540	0.563000	0.77884	GAA		0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
AGTPBP1	23287	broad.mit.edu	37	9	88292362	88292362	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88292362A>T	ENST00000357081.3	-	6	569	c.425T>A	c.(424-426)aTt>aAt	p.I142N	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.I142N|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.I24N|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.I84N|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.I194N|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.I84N|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.I142N			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	142					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.I142N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTTTGGTCCAATCTTTGCAAG	0.343																																					p.I142N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T425A	9						.						121.0	119.0	120.0					9																	88292362		2203	4300	6503	87482182	SO:0001583	missense	23287	exon6			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.425T>A	9.37:g.88292362A>T	ENSP00000349592:p.Ile142Asn		87482182	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	A	16.95	3.263529	0.59431	.	.	ENSG00000135049	ENST00000337006;ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218;ENST00000376081;ENST00000376080	T;T;T;T;T;T;T	0.56275	0.53;0.53;0.47;0.47;0.47;0.53;0.53	5.54	4.38	0.52667	Armadillo-like helical (1);Armadillo-type fold (1);	0.168665	0.56097	D	0.000037	T	0.52693	0.1750	L	0.46157	1.445	0.43959	D	0.99663	P;P;P;P	0.51537	0.865;0.71;0.946;0.565	B;B;P;B	0.48921	0.298;0.223;0.595;0.397	T	0.58418	-0.7640	10	0.87932	D	0	-22.8554	12.0561	0.53536	0.9292:0.0:0.0708:0.0	.	194;142;24;142	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	N	84;142;142;194;24;142;84	ENSP00000338512:I84N;ENSP00000349592:I142N;ENSP00000365251:I142N;ENSP00000365277:I194N;ENSP00000402804:I24N;ENSP00000365249:I142N;ENSP00000365248:I84N	ENSP00000338512:I84N	I	-	2	0	AGTPBP1	87482182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.602000	0.74141	2.220000	0.72140	0.533000	0.62120	ATT		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
AGTPBP1	23287	broad.mit.edu	37	9	88307629	88307629	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88307629T>G	ENST00000357081.3	-	3	276	c.132A>C	c.(130-132)aaA>aaC	p.K44N	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.K44N|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.K96N|AGTPBP1_ENST00000376080.1_5'UTR|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.K44N			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	44					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K44N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GATGAAGAATTTTTGATGTAA	0.373																																					p.K44N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A132C	9						.						110.0	95.0	100.0					9																	88307629		2203	4300	6503	87497449	SO:0001583	missense	23287	exon3			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.132A>C	9.37:g.88307629T>G	ENSP00000349592:p.Lys44Asn		87497449	NM_015239	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37		.	.	.	.	.	.	.	.	.	.	T	18.84	3.708282	0.68615	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000376081	T;T;T;T	0.48522	0.81;0.83;0.83;0.81	4.75	2.33	0.28932	Armadillo-like helical (1);Armadillo-type fold (1);	0.054454	0.64402	D	0.000001	T	0.59959	0.2232	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.995;0.997	T	0.59059	-0.7525	10	0.87932	D	0	-21.9665	5.3145	0.15849	0.0:0.5648:0.0:0.4352	.	96;44;44	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	N	44;44;96;44	ENSP00000349592:K44N;ENSP00000365251:K44N;ENSP00000365277:K96N;ENSP00000365249:K44N	ENSP00000349592:K44N	K	-	3	2	AGTPBP1	87497449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.709000	0.37909	0.655000	0.30866	0.454000	0.30748	AAA		0.373	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239	
NAA35	60560	broad.mit.edu	37	9	88557186	88557186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88557186G>T	ENST00000361671.5	+	2	245	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	NAA35_ENST00000376040.1_Nonsense_Mutation_p.E38*	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	38					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.E38*(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGATTTTGAAGAAGCTTGTCG	0.403																																					p.E38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G112T	9						.						159.0	151.0	154.0					9																	88557186		2203	4300	6503	87747006	SO:0001587	stop_gained	60560	exon2			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.112G>T	9.37:g.88557186G>T	ENSP00000354972:p.Glu38*		87747006	NM_024635	Q5VZE6|Q9H631|Q9H703	Nonsense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507588	0.97624	.	.	ENSG00000135040	ENST00000361671;ENST00000416045;ENST00000376040	.	.	.	5.11	4.2	0.49525	.	0.434739	0.26407	N	0.024551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4337	14.6266	0.68626	0.0:0.0:0.8531:0.1469	.	.	.	.	X	38	.	ENSP00000354972:E38X	E	+	1	0	NAA35	87747006	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.918000	0.69996	1.355000	0.45865	0.558000	0.71614	GAA		0.403	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
NAA35	60560	broad.mit.edu	37	9	88593190	88593190	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88593190T>C	ENST00000361671.5	+	11	904	c.771T>C	c.(769-771)gcT>gcC	p.A257A	NAA35_ENST00000376040.1_Silent_p.A257A	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	257					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)		p.A257A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGACCAGTGCTGTTGCAGAAG	0.333																																					p.A257A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T771C	9						.						118.0	116.0	117.0					9																	88593190		2203	4300	6503	87783010	SO:0001819	synonymous_variant	60560	exon11			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.771T>C	9.37:g.88593190T>C			87783010	NM_024635	Q5VZE6|Q9H631|Q9H703	Silent	SNP	ENST00000361671.5	37	CCDS6673.1																																																																																				0.333	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
GOLM1	51280	broad.mit.edu	37	9	88651279	88651279	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88651279C>A	ENST00000388712.3	-	7	909	c.741G>T	c.(739-741)aaG>aaT	p.K247N	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.K247N	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	247					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.K247N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CAACTTGTCTCTTTGAATCCA	0.567																																					p.K247N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G741T	9						.						162.0	145.0	151.0					9																	88651279		2203	4300	6503	87841099	SO:0001583	missense	51280	exon7			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.741G>T	9.37:g.88651279C>A	ENSP00000373364:p.Lys247Asn		87841099	NM_177937	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437689	0.43224	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.45276	0.9;0.9	4.19	3.3	0.37823	.	0.482216	0.23157	N	0.051288	T	0.49813	0.1579	L	0.56769	1.78	0.09310	N	1	D	0.57257	0.979	P	0.56563	0.801	T	0.35450	-0.9788	10	0.59425	D	0.04	-6.0415	8.1793	0.31300	0.0:0.8922:0.0:0.1078	.	247	Q8NBJ4	GOLM1_HUMAN	N	247	ENSP00000373364:K247N;ENSP00000373363:K247N	ENSP00000373363:K247N	K	-	3	2	GOLM1	87841099	0.204000	0.23447	0.172000	0.22920	0.010000	0.07245	0.149000	0.16243	1.363000	0.46019	0.561000	0.74099	AAG		0.567	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	
ZCCHC6	79670	broad.mit.edu	37	9	88923455	88923455	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88923455G>A	ENST00000375963.3	-	22	3899	c.3727C>T	c.(3727-3729)Cgt>Tgt	p.R1243C	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.R532C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R1007C|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1205C|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R143C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1243	PAP-associated 2.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R1243C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGTAGAAACGAAGAAGGCCC	0.378																																					p.R1243C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3727T	9						.						132.0	136.0	134.0					9																	88923455		2203	4300	6503	88113275	SO:0001583	missense	79670	exon22			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3727C>T	9.37:g.88923455G>A	ENSP00000365130:p.Arg1243Cys		88113275	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208487	0.79240	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.65	4.75	0.60458	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	M	0.84846	2.72	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.995	D	0.90713	0.4629	10	0.87932	D	0	-0.0863	14.5945	0.68395	0.0694:0.0:0.9306:0.0	.	1205;1007;1243	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	C	532;1007;1205;143;1243	ENSP00000277141:R532C;ENSP00000365127:R1007C;ENSP00000365128:R1205C;ENSP00000365124:R143C;ENSP00000365130:R1243C	ENSP00000277141:R532C	R	-	1	0	ZCCHC6	88113275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.454000	0.80714	1.616000	0.50265	0.655000	0.94253	CGT		0.378	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
ZCCHC6	79670	broad.mit.edu	37	9	88960627	88960627	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:88960627G>A	ENST00000375963.3	-	4	948	c.776C>T	c.(775-777)gCc>gTc	p.A259V	ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A259V|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.A92V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A259V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	259					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.A259V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGCTTATGGGCAAATGCAAT	0.353																																					p.A259V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	9						.						208.0	182.0	191.0					9																	88960627		2203	4300	6503	88150447	SO:0001583	missense	79670	exon4			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.776C>T	9.37:g.88960627G>A	ENSP00000365130:p.Ala259Val		88150447	NM_024617	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	33	5.250925	0.95305	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	D;D;D;T	0.84070	-1.8;-1.8;-1.8;1.13	5.49	5.49	0.81192	.	0.121291	0.56097	D	0.000033	D	0.90473	0.7016	M	0.67397	2.05	0.58432	D	0.999997	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.87578	0.958;0.981;0.998;0.996	D	0.89579	0.3819	10	0.44086	T	0.13	-11.9438	19.3708	0.94484	0.0:0.0:1.0:0.0	.	259;259;259;259	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	V	259;259;259;92;92	ENSP00000365127:A259V;ENSP00000365128:A259V;ENSP00000365130:A259V;ENSP00000365114:A92V	ENSP00000365114:A92V	A	-	2	0	ZCCHC6	88150447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.907000	0.92634	2.571000	0.86741	0.467000	0.42956	GCC		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
C9orf170	401535	broad.mit.edu	37	9	89763753	89763753	+	Silent	SNP	C	C	T	rs199831048		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:89763753C>T	ENST00000375941.2	+	1	195	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	36								p.L36L(1)		large_intestine(3)|lung(2)|prostate(1)	6						GGGCCTCGCTCGCAAGGCCCG	0.667																																					p.L36L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C108T	9						.	C		1,4401		0,1,2200	27.0	30.0	29.0		108	-7.5	0.0	9		29	0,8594		0,0,4297	no	coding-synonymous	C9orf170	NM_001001709.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		36/122	89763753	1,12995	2201	4297	6498	88953573	SO:0001819	synonymous_variant	401535	exon1			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.108C>T	9.37:g.89763753C>T			88953573	NM_001001709		Silent	SNP	ENST00000375941.2	37	CCDS35058.1																																																																																				0.667	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709	
C9orf170	401535	broad.mit.edu	37	9	89771577	89771577	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:89771577C>T	ENST00000375941.2	+	2	345	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	86								p.S86S(1)		large_intestine(3)|lung(2)|prostate(1)	6						gagtcggaagcccagattgga	0.413																																					p.S86S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C258T	9						.						64.0	63.0	63.0					9																	89771577		2203	4300	6503	88961397	SO:0001819	synonymous_variant	401535	exon2			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.258C>T	9.37:g.89771577C>T			88961397	NM_001001709		Silent	SNP	ENST00000375941.2	37	CCDS35058.1																																																																																				0.413	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709	
DAPK1	1612	broad.mit.edu	37	9	90315114	90315114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:90315114C>T	ENST00000408954.3	+	24	3168	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R945*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R879*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R945*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R945*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	945					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R946>?(1)|p.R946*(1)|p.R945*(1)|p.R945>?(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GAAGGTACTTCGAAATCATCT	0.453									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.R945X												.	.	4	Substitution - Nonsense(2)|Complex(2)	large_intestine(4)	c.C2833T	9						.						142.0	139.0	140.0					9																	90315114		1942	4129	6071	89504934	SO:0001587	stop_gained	1612	exon24	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2833C>T	9.37:g.90315114C>T	ENSP00000386135:p.Arg945*		89504934	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	43	10.522740	0.99421	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.95	5.95	0.96441	.	0.000000	0.44285	D	0.000470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	.	.	.	X	945;945;945;945;879	.	ENSP00000350785:R945X	R	+	1	2	DAPK1	89504934	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	4.784000	0.62411	2.824000	0.97209	0.655000	0.94253	CGA		0.453	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
CTSL	1514	broad.mit.edu	37	9	90344640	90344640	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:90344640C>A	ENST00000343150.5	+	6	1664	c.774C>A	c.(772-774)ttC>ttA	p.F258L	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.F258L			P07711	CATL1_HUMAN	cathepsin L	258					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|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)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.F258L(1)									CCTTCCTGTTCTATAAAGAAG	0.418																																					p.F258L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C774A	9						.						128.0	122.0	124.0					9																	90344640		2203	4300	6503	89534460	SO:0001583	missense	1514	exon6			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.774C>A	9.37:g.90344640C>A	ENSP00000345344:p.Phe258Leu		89534460	NM_145918	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228292	0.22542	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.21361	2.01;2.01	4.19	2.35	0.29111	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	N	0.11427	0.14	0.80722	D	1	P	0.47604	0.898	P	0.53988	0.739	T	0.09185	-1.0686	10	0.18710	T	0.47	.	8.048	0.30562	0.0:0.665:0.0:0.335	.	258	P07711	CATL1_HUMAN	L	258	ENSP00000345344:F258L;ENSP00000365061:F258L	ENSP00000365061:F258L	F	+	3	2	CTSL1	89534460	0.505000	0.26131	0.389000	0.26208	0.065000	0.16274	-0.268000	0.08607	0.408000	0.25621	-0.137000	0.14449	TTC		0.418	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
SPATA31E1	286234	broad.mit.edu	37	9	90501101	90501101	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:90501101C>A	ENST00000325643.5	+	4	1765	c.1699C>A	c.(1699-1701)Ctt>Att	p.L567I		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	567					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.L567I(1)									AAAGGAGTATCTTGAATGGCC	0.557																																					p.L567I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1699A	9						.						111.0	119.0	116.0					9																	90501101		2203	4300	6503	89690921	SO:0001583	missense	286234	exon4			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1699C>A	9.37:g.90501101C>A	ENSP00000322640:p.Leu567Ile		89690921	NM_178828	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	9.542	1.113642	0.20795	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.11821	2.74	2.51	-2.47	0.06442	.	0.761780	0.10731	N	0.640642	T	0.19087	0.0458	M	0.62723	1.935	0.09310	N	1	D;P	0.56521	0.976;0.873	P;B	0.56398	0.797;0.328	T	0.12192	-1.0557	10	0.29301	T	0.29	.	2.44	0.04492	0.4008:0.3223:0.0:0.277	.	567;219	Q6ZUB1;Q8NA33	CI079_HUMAN;.	I	567;219	ENSP00000322640:L567I	ENSP00000322640:L567I	L	+	1	0	C9orf79	89690921	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.684000	0.05173	-0.601000	0.05783	0.508000	0.49915	CTT		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
S1PR3	1903	broad.mit.edu	37	9	91616622	91616622	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:91616622C>T	ENST00000375846.3	+	1	5202	c.507C>T	c.(505-507)ggC>ggT	p.G169G	S1PR3_ENST00000358157.2_Silent_p.G169G			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	169					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.G169G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCACGCTGGGCGCCCTGCCCA	0.562											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G169G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	9						.						164.0	117.0	133.0					9																	91616622		2203	4300	6503	90806442	SO:0001819	synonymous_variant	1903	exon2			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.507C>T	9.37:g.91616622C>T		1283	90806442	NM_005226	Q5SQD8|Q7Z5I2	Silent	SNP	ENST00000375846.3	37	CCDS6680.1																																																																																				0.562	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
S1PR3	1903	broad.mit.edu	37	9	91616964	91616964	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:91616964C>A	ENST00000375846.3	+	1	5544	c.849C>A	c.(847-849)ttC>ttA	p.F283L	S1PR3_ENST00000358157.2_Missense_Mutation_p.F283L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	283					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.F283L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CTCAGTGGTTCATCGTGTTGG	0.602																																					p.F283L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C849A	9						.						125.0	76.0	92.0					9																	91616964		2203	4300	6503	90806784	SO:0001583	missense	1903	exon2			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.849C>A	9.37:g.91616964C>A	ENSP00000365006:p.Phe283Leu		90806784	NM_005226	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521818	0.64747	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.72615	-0.67;-0.67	4.85	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	L	0.59436	1.845	0.53005	D	0.999964	D	0.76494	0.999	D	0.83275	0.996	T	0.78863	-0.2036	10	0.72032	D	0.01	.	7.85	0.29448	0.0:0.7368:0.0:0.2632	.	283	Q99500	S1PR3_HUMAN	L	283	ENSP00000350878:F283L;ENSP00000365006:F283L	ENSP00000350878:F283L	F	+	3	2	S1PR3	90806784	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.815000	0.38981	1.399000	0.46721	0.313000	0.20887	TTC		0.602	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
SEMA4D	10507	broad.mit.edu	37	9	92002479	92002479	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:92002479C>A	ENST00000450295.1	-	12	1928	c.1152G>T	c.(1150-1152)ttG>ttT	p.L384F	SEMA4D_ENST00000438547.2_Missense_Mutation_p.L384F|SEMA4D_ENST00000420987.1_Missense_Mutation_p.L384F|SEMA4D_ENST00000455551.2_Missense_Mutation_p.L384F|SEMA4D_ENST00000343780.4_Missense_Mutation_p.L384F|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L384F|SEMA4D_ENST00000339861.4_Missense_Mutation_p.L384F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.L384F			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	384	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L384F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTGGCAAATTCAAGGAGCTGG	0.542																																					p.L384F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1152T	9						.						141.0	144.0	143.0					9																	92002479		2203	4300	6503	91192299	SO:0001583	missense	10507	exon14			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1152G>T	9.37:g.92002479C>A	ENSP00000416523:p.Leu384Phe		91192299	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787701	0.49997	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.36	2.46	0.29980	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.86178	2.8	0.35973	D	0.835497	D;D	0.76494	0.997;0.999	D;D	0.72338	0.935;0.977	T	0.69749	-0.5061	10	0.72032	D	0.01	.	13.1128	0.59283	0.0989:0.6123:0.2888:0.0	.	384;384	Q92854-2;Q92854	.;SEM4D_HUMAN	F	384	ENSP00000344923:L384F;ENSP00000391733:L384F;ENSP00000411981:L384F;ENSP00000343418:L384F;ENSP00000416523:L384F;ENSP00000405102:L384F;ENSP00000348822:L384F;ENSP00000388768:L384F	ENSP00000344923:L384F	L	-	3	2	SEMA4D	91192299	0.396000	0.25262	0.008000	0.14137	0.637000	0.38172	-0.406000	0.07187	0.364000	0.24374	0.655000	0.94253	TTG		0.542	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
DIRAS2	54769	broad.mit.edu	37	9	93375806	93375806	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:93375806C>T	ENST00000375765.3	-	2	692	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	102					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.E102K(3)		kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CAGATTTGTTCGTAGATGGGC	0.592																																					p.E102K												.	.	3	Substitution - Missense(3)	large_intestine(1)|kidney(1)|skin(1)	c.G304A	9						.						109.0	93.0	99.0					9																	93375806		2203	4300	6503	92415626	SO:0001583	missense	54769	exon2			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.304G>A	9.37:g.93375806C>T	ENSP00000364919:p.Glu102Lys		92415626	NM_017594	B3KVM2	Missense_Mutation	SNP	ENST00000375765.3	37	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707688	0.48412	.	.	ENSG00000165023	ENST00000375765	T	0.76709	-1.04	5.21	3.33	0.38152	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.66848	0.2831	N	0.21194	0.64	0.58432	D	0.999998	B	0.20988	0.05	B	0.23018	0.043	T	0.63800	-0.6555	10	0.56958	D	0.05	.	15.0417	0.71796	0.0:0.7297:0.2703:0.0	.	102	Q96HU8	DIRA2_HUMAN	K	102	ENSP00000364919:E102K	ENSP00000364919:E102K	E	-	1	0	DIRAS2	92415626	0.998000	0.40836	0.942000	0.38095	0.755000	0.42902	3.797000	0.55514	0.868000	0.35678	-0.175000	0.13238	GAA		0.592	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1		
SYK	6850	broad.mit.edu	37	9	93650169	93650169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:93650169C>T	ENST00000375754.4	+	12	1868	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	SYK_ENST00000375751.4_Nonsense_Mutation_p.R551*|SYK_ENST00000375747.1_Nonsense_Mutation_p.R551*|SYK_ENST00000375746.1_Nonsense_Mutation_p.R574*	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.R551*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GAAGCCATATCGAGTGAGCCA	0.458			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																p.R551X			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1651T	9						.						121.0	117.0	118.0					9																	93650169		2203	4300	6503	92689990	SO:0001587	stop_gained	6850	exon11			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1720C>T	9.37:g.93650169C>T	ENSP00000364907:p.Arg574*		92689990	NM_001174168		Nonsense_Mutation	SNP	ENST00000375754.4	37	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731989	0.89390	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	.	.	.	4.43	0.986	0.19784	.	0.204989	0.40302	N	0.001131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.3835	0.55320	0.5528:0.4471:0.0:0.0	.	.	.	.	X	574;551;551;574	.	ENSP00000364898:R574X	R	+	1	2	SYK	92689990	0.870000	0.30015	0.241000	0.24154	0.119000	0.20118	2.381000	0.44336	0.407000	0.25591	0.455000	0.32223	CGA		0.458	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1		
NFIL3	4783	broad.mit.edu	37	9	94171813	94171813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:94171813C>A	ENST00000297689.3	-	2	1598	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	402					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E402*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						CCACTCAGTTCTTTTTGATGC	0.403																																					p.E402X	Esophageal Squamous(152;732 1832 10053 26981 51762)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1204T	9						.						141.0	139.0	140.0					9																	94171813		2203	4300	6503	93211634	SO:0001587	stop_gained	4783	exon2			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1204G>T	9.37:g.94171813C>A	ENSP00000297689:p.Glu402*		93211634	NM_005384	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Nonsense_Mutation	SNP	ENST00000297689.3	37	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	40	8.374724	0.98784	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	5.34	5.34	0.76211	.	0.153970	0.43416	D	0.000580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.1411	19.2381	0.93869	0.0:1.0:0.0:0.0	.	.	.	.	X	402	.	ENSP00000297689:E402X	E	-	1	0	NFIL3	93211634	1.000000	0.71417	0.991000	0.47740	0.646000	0.38490	4.066000	0.57520	2.779000	0.95612	0.655000	0.94253	GAA		0.403	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384	
ROR2	4920	broad.mit.edu	37	9	94486762	94486762	+	Missense_Mutation	SNP	C	C	T	rs55651110		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:94486762C>T	ENST00000375708.3	-	9	2212	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D532N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs55651110). {ECO:0000269|PubMed:17344846}.		cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.D672N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGTCTGAGTCGATGGAGAAC	0.582																																					p.D672N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2014A	9						.	C	ASN/ASP	0,4406		0,0,2203	71.0	60.0	64.0		2014	4.9	0.9	9	dbSNP_129	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	672/944	94486762	1,13005	2203	4300	6503	93526583	SO:0001583	missense	4920	exon9			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2014G>A	9.37:g.94486762C>T	ENSP00000364860:p.Asp672Asn		93526583	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459951	0.63401	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.88975	-2.45;-2.45	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.88768	0.6526	N	0.05487	-0.04	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.76575	0.988;0.592	D	0.91798	0.5449	10	0.87932	D	0	.	18.2087	0.89863	0.0:1.0:0.0:0.0	rs55651110	672;532	Q01974;B1APY4	ROR2_HUMAN;.	N	532;672	ENSP00000364867:D532N;ENSP00000364860:D672N	ENSP00000364860:D672N	D	-	1	0	ROR2	93526583	1.000000	0.71417	0.944000	0.38274	0.106000	0.19336	7.567000	0.82357	2.526000	0.85167	0.561000	0.74099	GAC		0.582	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
ROR2	4920	broad.mit.edu	37	9	94518359	94518359	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:94518359T>G	ENST00000375708.3	-	4	686	c.488A>C	c.(487-489)aAc>aCc	p.N163T	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.N23T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	163					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.N163T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TTACTGAAAGTTATGATTTGG	0.408																																					p.N163T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A488C	9						.						105.0	99.0	101.0					9																	94518359		2203	4300	6503	93558180	SO:0001583	missense	4920	exon4			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.488A>C	9.37:g.94518359T>G	ENSP00000364860:p.Asn163Thr		93558180	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623622	0.46840	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76839	-1.05;-1.04	5.18	5.18	0.71444	.	0.000000	0.45126	D	0.000383	T	0.75989	0.3925	N	0.08118	0	0.50467	D	0.999871	B;D;B	0.63880	0.007;0.993;0.002	B;D;B	0.70935	0.01;0.971;0.003	T	0.79042	-0.1965	10	0.39692	T	0.17	.	15.2016	0.73142	0.0:0.0:0.0:1.0	.	163;163;23	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	T	23;163	ENSP00000364867:N23T;ENSP00000364860:N163T	ENSP00000364860:N163T	N	-	2	0	ROR2	93558180	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.979000	0.63806	2.171000	0.68590	0.482000	0.46254	AAC		0.408	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
NOL8	55035	broad.mit.edu	37	9	95060162	95060162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:95060162G>A	ENST00000535387.1	-	15	3345	c.3346C>T	c.(3346-3348)Cga>Tga	p.R1116*	NOL8_ENST00000442668.2_Nonsense_Mutation_p.R1154*|NOL8_ENST00000545558.1_Nonsense_Mutation_p.R1154*|NOL8_ENST00000358855.4_Nonsense_Mutation_p.R1086*|NOL8_ENST00000542053.1_Nonsense_Mutation_p.R1086*					nucleolar protein 8									p.R1154*(1)|p.R1156*(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTTTCTTTCGACAATCCTAG	0.333																																					p.R1154X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3460T	9						.						92.0	75.0	80.0					9																	95060162		1723	3925	5648	94099983	SO:0001587	stop_gained	55035	exon17			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3346C>T	9.37:g.95060162G>A	ENSP00000441300:p.Arg1116*		94099983	NM_017948		Nonsense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	44	10.666969	0.99446	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	.	.	.	5.36	5.36	0.76844	.	0.059242	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8414	13.617	0.62115	0.0:0.0:0.8447:0.1553	.	.	.	.	X	1154;1118;1086;1154;1116;1086	.	ENSP00000351723:R1086X	R	-	1	2	NOL8	94099983	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.622000	0.61240	2.507000	0.84556	0.484000	0.47621	CGA		0.333	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
OGN	4969	broad.mit.edu	37	9	95152321	95152321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:95152321C>T	ENST00000262551.4	-	5	865	c.445G>A	c.(445-447)Gat>Aat	p.D149N	OGN_ENST00000468743.1_5'UTR|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.D149N	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	149					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)		p.D149N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CCTGTAAAATCGAGTCTTCTT	0.284																																					p.D149N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445A	9						.						54.0	58.0	56.0					9																	95152321		2203	4298	6501	94192142	SO:0001583	missense	4969	exon5			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.445G>A	9.37:g.95152321C>T	ENSP00000262551:p.Asp149Asn		94192142	NM_014057	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843089	0.91197	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.57907	0.37;0.37;0.37	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	N	0.16130	0.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.61277	-0.7095	10	0.39692	T	0.17	.	19.263	0.93975	0.0:1.0:0.0:0.0	.	207;149	B4DI63;P20774	.;MIME_HUMAN	N	149;149;207	ENSP00000262551:D149N;ENSP00000364711:D149N;ENSP00000396709:D207N	ENSP00000262551:D149N	D	-	1	0	OGN	94192142	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.778000	0.68940	2.643000	0.89663	0.655000	0.94253	GAT		0.284	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416	
OMD	4958	broad.mit.edu	37	9	95177694	95177694	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:95177694G>A	ENST00000375550.4	-	3	1281	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	336					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.R336C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGGTCCACACGAATGTATGTT	0.318			T	USP6	aneurysmal bone cysts																																p.R336C			Dom	yes		9	9q22.31	4958	osteomodulin		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1006T	9						.						149.0	145.0	147.0					9																	95177694		2203	4300	6503	94217515	SO:0001583	missense	4958	exon3			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1006C>T	9.37:g.95177694G>A	ENSP00000364700:p.Arg336Cys		94217515	NM_005014	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776980	0.90195	.	.	ENSG00000127083	ENST00000375550	T	0.04603	3.59	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.28797	0.0714	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02417	-1.1162	10	0.87932	D	0	-19.0612	19.9762	0.97309	0.0:0.0:1.0:0.0	.	336	Q99983	OMD_HUMAN	C	336	ENSP00000364700:R336C	ENSP00000364700:R336C	R	-	1	0	OMD	94217515	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.079000	0.71291	2.797000	0.96272	0.555000	0.69702	CGT		0.318	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
ZNF484	83744	broad.mit.edu	37	9	95609717	95609717	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:95609717T>G	ENST00000375495.3	-	5	1500	c.1352A>C	c.(1351-1353)aAa>aCa	p.K451T	ZNF484_ENST00000395505.2_Missense_Mutation_p.K415T|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.K415T|ZNF484_ENST00000395506.3_Missense_Mutation_p.K453T	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	451					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.K451T(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TTGTGATTTTTTAATAAAGGA	0.393																																					p.K415T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1244C	9						.						75.0	75.0	75.0					9																	95609717		2203	4300	6503	94649538	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1352A>C	9.37:g.95609717T>G	ENSP00000364645:p.Lys451Thr		94649538	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.028406	0.35797	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07954	0.0199	N	0.01789	-0.72	0.27484	N	0.952482	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40608	-0.9554	9	0.25751	T	0.34	.	8.5787	0.33614	0.0:0.0:0.0:1.0	.	453;451	B4DRI2;Q5JVG2	.;ZN484_HUMAN	T	415;453;451;415	ENSP00000378881:K415T;ENSP00000378882:K453T;ENSP00000364645:K451T;ENSP00000364646:K415T	ENSP00000364646:K415T	K	-	2	0	ZNF484	94649538	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-0.103000	0.10940	1.324000	0.45282	0.446000	0.29264	AAA		0.393	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
ZNF484	83744	broad.mit.edu	37	9	95610782	95610782	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:95610782G>T	ENST00000375495.3	-	5	435	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	ZNF484_ENST00000395505.2_Missense_Mutation_p.S60Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.S60Y|ZNF484_ENST00000395506.3_Missense_Mutation_p.S98Y	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S96Y(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGACTGGAAAGAAACTTCTTC	0.338																																					p.S60Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179A	9						.						62.0	62.0	62.0					9																	95610782		2203	4300	6503	94650603	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.287C>A	9.37:g.95610782G>T	ENSP00000364645:p.Ser96Tyr		94650603	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	4.982	0.182372	0.09495	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.09350	2.99;3.12;3.12;2.99	3.47	1.46	0.22682	.	.	.	.	.	T	0.06280	0.0162	L	0.38175	1.15	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.27500	0.08;0.08	T	0.38564	-0.9655	9	0.07482	T	0.82	.	5.0834	0.14668	0.1246:0.0:0.673:0.2024	.	98;96	B4DRI2;Q5JVG2	.;ZN484_HUMAN	Y	60;98;96;60	ENSP00000378881:S60Y;ENSP00000378882:S98Y;ENSP00000364645:S96Y;ENSP00000364646:S60Y	ENSP00000364646:S60Y	S	-	2	0	ZNF484	94650603	0.038000	0.19896	0.052000	0.19188	0.507000	0.33981	0.799000	0.27028	0.235000	0.21160	-0.195000	0.12781	TCT		0.338	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
FAM120A	23196	broad.mit.edu	37	9	96261106	96261106	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:96261106G>T	ENST00000277165.6	+	5	1162	c.968G>T	c.(967-969)aGa>aTa	p.R323I	FAM120A_ENST00000340893.4_Missense_Mutation_p.R323I|FAM120A_ENST00000333936.5_Missense_Mutation_p.R323I|FAM120A_ENST00000375389.3_Missense_Mutation_p.R323I	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	323						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.R323I(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGATTTAAGAGAGCAATTGGA	0.343																																					p.R323I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G968T	9						.						161.0	166.0	164.0					9																	96261106		2203	4300	6503	95300927	SO:0001583	missense	23196	exon5			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.968G>T	9.37:g.96261106G>T	ENSP00000277165:p.Arg323Ile		95300927	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.114939|4.114939	0.77210|0.77210	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000446420|ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.|T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.068584	.|0.64402	.|D	.|0.000009	.|T	.|0.34395	.|0.0896	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D;P	.|0.53151	.|0.911;0.899;0.958;0.787	.|P;P;P;B	.|0.47981	.|0.461;0.466;0.563;0.242	.|T	.|0.33111	.|-0.9881	.|10	.|0.72032	.|D	.|0.01	-14.2449|-14.2449	12.0202|12.0202	0.53340|0.53340	0.0784:0.0:0.9216:0.0|0.0784:0.0:0.9216:0.0	.|.	.|323;323;323;323	.|Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.|.;.;F120A_HUMAN;.	X|I	166|323	.|ENSP00000364538:R323I;ENSP00000277165:R323I;ENSP00000334918:R323I;ENSP00000344698:R323I	.|ENSP00000277165:R323I	E|R	+|+	1|2	0|0	FAM120A|FAM120A	95300927|95300927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.750000|6.750000	0.74888|0.74888	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.343	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
FAM120A	23196	broad.mit.edu	37	9	96291859	96291859	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:96291859G>A	ENST00000277165.6	+	9	1925	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	FAM120A_ENST00000340893.4_Silent_p.T577T|FAM120A_ENST00000333936.5_Silent_p.T605T|FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000375389.3_Silent_p.T577T	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	577						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.T577T(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGTCCTGACGAAGGTATTAT	0.522																																					p.T577T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1731A	9						.						54.0	50.0	51.0					9																	96291859		2203	4300	6503	95331680	SO:0001819	synonymous_variant	23196	exon9			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1731G>A	9.37:g.96291859G>A			95331680	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124288	0.20959	.	.	ENSG00000048828	ENST00000446420	.	.	.	5.51	-10.8	0.00216	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47222	-0.9134	4	.	.	.	-13.3429	4.6827	0.12743	0.3636:0.4133:0.0848:0.1383	.	.	.	.	Q	420	.	.	R	+	2	0	FAM120A	95331680	0.023000	0.18921	0.722000	0.30670	0.998000	0.95712	-0.897000	0.04110	-1.766000	0.01302	0.655000	0.94253	CGA		0.522	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
PTPDC1	138639	broad.mit.edu	37	9	96859681	96859681	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:96859681G>A	ENST00000375360.3	+	7	1011	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R276Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	224	Tyrosine-protein phosphatase.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R276Q(1)|p.R224L(1)|p.R276L(1)|p.R224Q(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CGGGCAAAGCGACCCAATTCC	0.413																																					p.R276Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G827A	9						.						79.0	77.0	77.0					9																	96859681		2203	4300	6503	95899502	SO:0001583	missense	138639	exon6			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.671G>A	9.37:g.96859681G>A	ENSP00000364509:p.Arg224Gln		95899502	NM_152422	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	33	5.197879	0.94997	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.50548	0.74;0.74	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.86933	0.2074	10	0.87932	D	0	-10.6174	18.4793	0.90806	0.0:0.0:1.0:0.0	.	278;276;278;224	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	Q	224;276	ENSP00000364509:R224Q;ENSP00000288976:R276Q	ENSP00000288976:R276Q	R	+	2	0	PTPDC1	95899502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.269000	0.95684	2.610000	0.88304	0.591000	0.81541	CGA		0.413	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
PTPDC1	138639	broad.mit.edu	37	9	96860136	96860136	+	Missense_Mutation	SNP	C	C	T	rs142408898		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:96860136C>T	ENST00000375360.3	+	7	1466	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R428W	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	376					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R376W(2)|p.R428W(2)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTGGAAAAGGCGGAATGTTGA	0.512													.|||	1	0.000199681	0.0	0.0	5008	,	,		21270	0.0		0.001	False		,,,				2504	0.0				p.R428W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1282T	9						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	62.0	65.0	64.0		1282,1126	1.8	1.0	9	dbSNP_134	64	3,8597		0,3,4297	yes	missense,missense	PTPDC1	NM_152422.3,NM_177995.1	101,101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	428/807,376/755	96860136	3,13003	2203	4300	6503	95899957	SO:0001583	missense	138639	exon6			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1126C>T	9.37:g.96860136C>T	ENSP00000364509:p.Arg376Trp		95899957	NM_152422	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	18.52	3.642154	0.67244	0.0	3.49E-4	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.16073	2.38;2.37	5.93	1.79	0.24919	.	0.250728	0.39615	N	0.001318	T	0.39809	0.1092	M	0.78916	2.43	0.42954	D	0.994387	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.996;0.991;0.991	T	0.20773	-1.0265	10	0.87932	D	0	-17.659	11.3461	0.49561	0.5178:0.3784:0.1038:0.0	.	430;428;430;376	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	W	376;428	ENSP00000364509:R376W;ENSP00000288976:R428W	ENSP00000288976:R428W	R	+	1	2	PTPDC1	95899957	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	1.021000	0.30040	0.055000	0.16094	0.655000	0.94253	CGG		0.512	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
NUTM2F	54754	broad.mit.edu	37	9	97081935	97081935	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:97081935C>A	ENST00000253262.4	-	6	1465	c.1445G>T	c.(1444-1446)aGc>aTc	p.S482I	NUTM2F_ENST00000335456.7_Missense_Mutation_p.S467I|NUTM2F_ENST00000341207.4_Missense_Mutation_p.S467I	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	482								p.S348I(1)									CAGCTCCTGGCTTAGGGCCAA	0.592																																					p.S482I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1445T	9						.						67.0	72.0	70.0					9																	97081935		1870	4088	5958	96121756	SO:0001583	missense	54754	exon6				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1445G>T	9.37:g.97081935C>A	ENSP00000253262:p.Ser482Ile		96121756	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288339	0.10513	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207;ENST00000375347	T;T;T	0.21191	2.02;2.79;2.8	1.21	-0.963	0.10330	Nuclear Testis protein, C-terminal (1);	1.040500	0.07631	N	0.928680	T	0.12390	0.0301	L	0.31664	0.95	0.09310	N	1	B	0.28400	0.21	B	0.31869	0.137	T	0.38023	-0.9680	10	0.12103	T	0.63	.	2.6437	0.04978	0.2488:0.3449:0.4063:0.0	.	482	A1L443	FA22F_HUMAN	I	467;482;467;316	ENSP00000335067:S467I;ENSP00000253262:S482I;ENSP00000343865:S467I	ENSP00000253262:S482I	S	-	2	0	FAM22F	96121756	0.000000	0.05858	0.007000	0.13788	0.327000	0.28475	-0.663000	0.05299	-0.329000	0.08527	-0.518000	0.04402	AGC		0.592	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
FBP2	8789	broad.mit.edu	37	9	97333838	97333838	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:97333838C>T	ENST00000375337.3	-	4	539	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	158					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)	p.R158H(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CACAATATTGCGGCCACACTG	0.542																																					p.R158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	9						.						112.0	92.0	99.0					9																	97333838		2203	4300	6503	96373659	SO:0001583	missense	8789	exon4			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.473G>A	9.37:g.97333838C>T	ENSP00000364486:p.Arg158His		96373659	NM_003837	Q17R39|Q6FI53	Missense_Mutation	SNP	ENST00000375337.3	37	CCDS6711.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542475	0.45280	.	.	ENSG00000130957	ENST00000375337	T	0.73897	-0.79	5.26	4.36	0.52297	.	0.360466	0.34932	N	0.003573	T	0.78477	0.4289	M	0.82132	2.575	0.23673	N	0.997143	D	0.61080	0.989	P	0.48114	0.567	T	0.71567	-0.4554	10	0.33940	T	0.23	-10.4679	13.3962	0.60853	0.0:0.9244:0.0:0.0756	.	158	O00757	F16P2_HUMAN	H	158	ENSP00000364486:R158H	ENSP00000364486:R158H	R	-	2	0	FBP2	96373659	1.000000	0.71417	0.597000	0.28824	0.139000	0.21198	2.154000	0.42291	1.211000	0.43351	0.557000	0.71058	CGC		0.542	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
PTCH1	5727	broad.mit.edu	37	9	98238333	98238333	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:98238333G>A	ENST00000331920.6	-	12	2010	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	PTCH1_ENST00000429896.2_Missense_Mutation_p.R420W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R570W|PTCH1_ENST00000430669.2_Missense_Mutation_p.R505W|PTCH1_ENST00000437951.1_Missense_Mutation_p.R505W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R420W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R420W	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	571	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R571W(2)|p.R570W(1)|p.P568_L570del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GAGAACGCCCGCAGAGCGGGA	0.602																																					p.R420W												.	.	4	Substitution - Missense(3)|Deletion - In frame(1)	large_intestine(3)|skin(1)	c.C1258T	9						.						63.0	50.0	54.0					9																	98238333		2203	4300	6503	97278154	SO:0001583	missense	5727	exon12			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1711C>T	9.37:g.98238333G>A	ENSP00000332353:p.Arg571Trp		97278154	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150601	0.78001	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.63	4.72	0.59763	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98860	1.0762	10	0.87932	D	0	-23.3623	15.201	0.73136	0.0:0.0:0.7442:0.2558	.	420;505;570;571	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	W	571;505;420;420;505;420;570;236	ENSP00000332353:R571W;ENSP00000389744:R505W;ENSP00000399981:R420W;ENSP00000396135:R420W;ENSP00000410287:R505W;ENSP00000414823:R420W;ENSP00000364423:R570W;ENSP00000364420:R236W	ENSP00000332353:R571W	R	-	1	2	PTCH1	97278154	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.317000	0.43770	1.478000	0.48253	0.655000	0.94253	CGG		0.602	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
ERCC6L2	375748	broad.mit.edu	37	9	98683478	98683478	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:98683478G>T	ENST00000288985.7	+	7	1518	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.D216Y	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	405					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.D405Y(1)									TTCTTTGACAGATTTCCAGAA	0.333																																					p.D405Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1213T	9						.						89.0	88.0	89.0					9																	98683478		2203	4300	6503	97723299	SO:0001583	missense	375748	exon7			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1213G>T	9.37:g.98683478G>T	ENSP00000288985:p.Asp405Tyr		97723299	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798645	0.90538	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	T;T	0.76839	-1.05;-1.05	5.51	5.51	0.81932	SNF2-related (1);	0.224693	0.29493	N	0.011996	D	0.85146	0.5630	L	0.61036	1.89	0.80722	D	1	P;D;P	0.62365	0.786;0.991;0.928	B;P;P	0.57620	0.439;0.824;0.815	D	0.85997	0.1492	10	0.72032	D	0.01	-10.2114	19.7723	0.96370	0.0:0.0:1.0:0.0	.	216;87;405	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	Y	87;405;216	ENSP00000288985:D405Y;ENSP00000416286:D216Y	ENSP00000288985:D405Y	D	+	1	0	C9orf102	97723299	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.046000	0.93817	2.742000	0.94016	0.585000	0.79938	GAT		0.333	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
SLC35D2	11046	broad.mit.edu	37	9	99106263	99106263	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99106263C>T	ENST00000253270.7	-	8	669	c.607G>A	c.(607-609)Gga>Aga	p.G203R	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	203					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)	p.G203R(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AAAAGTACTCCGTATTTCCCT	0.403																																					p.G203R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	9						.						121.0	128.0	126.0					9																	99106263		2203	4300	6503	98146084	SO:0001583	missense	11046	exon8			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.607G>A	9.37:g.99106263C>T	ENSP00000253270:p.Gly203Arg		98146084	NM_007001	O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438874	0.83885	.	.	ENSG00000130958	ENST00000253270	T	0.61980	0.06	4.94	4.94	0.65067	Domain of unknown function DUF250 (1);	0.055372	0.64402	D	0.000001	T	0.79185	0.4403	M	0.87547	2.89	0.80722	D	1	D	0.55385	0.971	P	0.59487	0.858	T	0.79095	-0.1944	10	0.33940	T	0.23	.	17.4527	0.87596	0.0:1.0:0.0:0.0	.	203	Q76EJ3	S35D2_HUMAN	R	203	ENSP00000253270:G203R	ENSP00000253270:G203R	G	-	1	0	SLC35D2	98146084	1.000000	0.71417	0.954000	0.39281	0.868000	0.49771	6.190000	0.72057	2.734000	0.93682	0.650000	0.86243	GGA		0.403	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1		
HABP4	22927	broad.mit.edu	37	9	99227692	99227692	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99227692G>T	ENST00000375249.4	+	3	661	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4									p.G196C(1)		NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GCGCGGCAGAGGCAGAGGTGG	0.483																																					p.G196C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586T	9						.						106.0	118.0	114.0					9																	99227692		2203	4300	6503	98267513	SO:0001583	missense	22927	exon3			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.586G>T	9.37:g.99227692G>T	ENSP00000364398:p.Gly196Cys		98267513	NM_014282		Missense_Mutation	SNP	ENST00000375249.4	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663249	0.67700	.	.	ENSG00000130956	ENST00000375249	T	0.44881	0.91	4.86	4.86	0.63082	.	0.050015	0.85682	D	0.000000	T	0.62171	0.2406	L	0.58510	1.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.72625	0.978	T	0.64546	-0.6382	10	0.72032	D	0.01	-15.9732	18.5864	0.91191	0.0:0.0:1.0:0.0	.	196	Q5JVS0	HABP4_HUMAN	C	196	ENSP00000364398:G196C	ENSP00000364398:G196C	G	+	1	0	HABP4	98267513	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.981000	0.56902	2.686000	0.91538	0.644000	0.83932	GGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282	
CDC14B	8555	broad.mit.edu	37	9	99285665	99285665	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99285665G>A	ENST00000375241.1	-	11	1574	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	CDC14B_ENST00000375240.3_Missense_Mutation_p.R375C|CDC14B_ENST00000265659.2_Missense_Mutation_p.R375C|CDC14B_ENST00000375236.1_Missense_Mutation_p.R375C|CDC14B_ENST00000481149.1_5'Flank|CDC14B_ENST00000463569.1_Missense_Mutation_p.R375C|CDC14B_ENST00000375242.3_Missense_Mutation_p.R338C	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	375	B.				activation of anaphase-promoting complex activity (GO:0051488)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R375C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AACTTCTGACGAAAATAGTCC	0.428																																					p.R338C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1012T	9						.						99.0	106.0	104.0					9																	99285665		2203	4300	6503	98325486	SO:0001583	missense	8555	exon11			AF023158	CCDS6721.1, CCDS6722.1, CCDS43853.1	9q22.3	2013-01-17	2013-01-17		ENSG00000081377	ENSG00000081377		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1719	protein-coding gene	gene with protein product		603505	"""CDC14 (cell division cycle 14, S. cerevisiae) homolog B"", ""CDC14 cell division cycle 14 homolog B (S. cerevisiae)"""			9367992	Standard	NM_003671		Approved	Cdc14B1, Cdc14B2, CDC14B3, hCDC14B	uc004awj.3	O60729	OTTHUMG00000020300	ENST00000375241.1:c.1123C>T	9.37:g.99285665G>A	ENSP00000364389:p.Arg375Cys		98325486	NM_001077181	A6N5X8|A8MQ20|B1AL31|B1AL32|O43183|O60730|Q5JU08	Missense_Mutation	SNP	ENST00000375241.1	37	CCDS6722.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606194	0.66445	.	.	ENSG00000081377	ENST00000265659;ENST00000375241;ENST00000375240;ENST00000375242;ENST00000463569;ENST00000375236	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.29	5.29	0.74685	.	0.152605	0.64402	D	0.000015	T	0.52645	0.1747	M	0.77486	2.375	0.80722	D	1	B;D;P	0.89917	0.112;1.0;0.86	B;D;B	0.63488	0.022;0.915;0.199	T	0.55724	-0.8096	10	0.72032	D	0.01	-4.3923	19.137	0.93431	0.0:0.0:1.0:0.0	.	375;375;338	O60729-2;O60729;A8MQ20	.;CC14B_HUMAN;.	C	375;375;375;338;375;375	ENSP00000265659:R375C;ENSP00000364389:R375C;ENSP00000364388:R375C;ENSP00000364390:R338C;ENSP00000420572:R375C;ENSP00000364384:R375C	ENSP00000265659:R375C	R	-	1	0	CDC14B	98325486	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	5.389000	0.66255	2.759000	0.94783	0.555000	0.69702	CGT		0.428	CDC14B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053278.2	NM_033331	
ZNF510	22869	broad.mit.edu	37	9	99521321	99521321	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99521321C>A	ENST00000375231.1	-	6	2441	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	ZNF510_ENST00000223428.4_Missense_Mutation_p.E597D			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	597					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.E597D(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TAAATGGTTTCTCCCCAGTGT	0.418																																					p.E597D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1791T	9						.						61.0	63.0	63.0					9																	99521321		2203	4299	6502	98561142	SO:0001583	missense	22869	exon6			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1791G>T	9.37:g.99521321C>A	ENSP00000364379:p.Glu597Asp		98561142	NM_014930	Q5SZP5	Missense_Mutation	SNP	ENST00000375231.1	37	CCDS35074.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466574	0.43839	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	T;T	0.26810	1.71;1.71	3.02	0.00692	0.14068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34279	0.0892	M	0.64170	1.965	0.22366	N	0.999163	P	0.52170	0.951	P	0.55749	0.783	T	0.16837	-1.0389	9	0.66056	D	0.02	.	3.951	0.09369	0.189:0.5813:0.0:0.2297	.	597	Q9Y2H8	ZN510_HUMAN	D	597	ENSP00000364379:E597D;ENSP00000223428:E597D	ENSP00000223428:E597D	E	-	3	2	ZNF510	98561142	0.942000	0.31987	0.996000	0.52242	0.999000	0.98932	-0.001000	0.12947	-0.009000	0.14296	0.655000	0.94253	GAG		0.418	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930	
ZNF782	158431	broad.mit.edu	37	9	99581386	99581386	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99581386G>T	ENST00000481138.1	-	6	1580	c.919C>A	c.(919-921)Cat>Aat	p.H307N	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.H175N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	307					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.H307N(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACCCCTATATGAACTCTATGA	0.378																																					p.H307N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919A	9						.						96.0	97.0	97.0					9																	99581386		2203	4299	6502	98621207	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.919C>A	9.37:g.99581386G>T	ENSP00000419397:p.His307Asn		98621207	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.98|11.98	1.801487|1.801487	0.31869|0.31869	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.26660|.	1.72;1.72|.	3.52|3.52	0.627|0.627	0.17675|0.17675	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.801903|.	0.10174|.	N|.	0.706718|.	T|.	0.57431|.	0.2053|.	M|M	0.87682|0.87682	2.9|2.9	0.19300|0.19300	N|N	0.999974|0.999974	B|.	0.18610|.	0.029|.	B|.	0.16722|.	0.016|.	T|.	0.52586|.	-0.8556|.	10|.	0.87932|.	D|.	0|.	.|.	4.455|4.455	0.11639|0.11639	0.2075:0.0:0.6132:0.1792|0.2075:0.0:0.6132:0.1792	.|.	307|.	Q6ZMW2|.	ZN782_HUMAN|.	N|X	307;175|295	ENSP00000419397:H307N;ENSP00000440624:H175N|.	ENSP00000419397:H307N|.	H|S	-|-	1|2	0|0	ZNF782|ZNF782	98621207|98621207	0.763000|0.763000	0.28462|0.28462	0.002000|0.002000	0.10522|0.10522	0.194000|0.194000	0.23727|0.23727	1.647000|1.647000	0.37260|0.37260	0.133000|0.133000	0.18654|0.18654	0.644000|0.644000	0.83932|0.83932	CAT|TCA		0.378	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	broad.mit.edu	37	9	99581565	99581565	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99581565T>G	ENST00000481138.1	-	6	1401	c.740A>C	c.(739-741)aAa>aCa	p.K247T	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Missense_Mutation_p.K115T	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K247T(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTCCCCAAATTTATTGAAATT	0.313																																					p.K247T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A740C	9						.						71.0	77.0	75.0					9																	99581565		2203	4299	6502	98621386	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.740A>C	9.37:g.99581565T>G	ENSP00000419397:p.Lys247Thr		98621386	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.55|11.55	1.672338|1.672338	0.29693|0.29693	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000481138;ENST00000535338|ENST00000289032	T;T|.	0.07327|.	3.35;3.2|.	3.33|3.33	-1.92|-1.92	0.07618|0.07618	.|.	0.703630|.	0.11680|.	N|.	0.539899|.	T|.	0.20414|.	0.0491|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|.	0.25572|.	-1.0128|.	10|.	0.72032|.	D|.	0.01|.	.|.	0.7445|0.7445	0.00979|0.00979	0.1631:0.2091:0.1678:0.4601|0.1631:0.2091:0.1678:0.4601	.|.	247|.	Q6ZMW2|.	ZN782_HUMAN|.	T|Y	247;115|235	ENSP00000419397:K247T;ENSP00000440624:K115T|.	ENSP00000419397:K247T|.	K|X	-|-	2|3	0|2	ZNF782|ZNF782	98621386|98621386	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.448000|0.448000	0.32197|0.32197	0.120000|0.120000	0.15647|0.15647	-0.389000|-0.389000	0.07786|0.07786	0.529000|0.529000	0.55759|0.55759	AAA|TAA		0.313	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
CTSV	1515	broad.mit.edu	37	9	99797949	99797949	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99797949C>A	ENST00000259470.5	-	6	897	c.648G>T	c.(646-648)gaG>gaT	p.E216D	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Missense_Mutation_p.E216D	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	216					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.E216D(1)									CAACAGAATTCTCAGGTCTGT	0.473																																					p.E216D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G648T	9						.						69.0	62.0	64.0					9																	99797949		2203	4300	6503	98837770	SO:0001583	missense	1515	exon6			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.648G>T	9.37:g.99797949C>A	ENSP00000259470:p.Glu216Asp		98837770	NM_001333	O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847411	0.32606	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.21932	1.98;1.98	3.65	-0.48	0.12085	Peptidase C1A, papain C-terminal (2);	0.447688	0.24325	N	0.039512	T	0.08980	0.0222	N	0.12569	0.235	0.23693	N	0.99709	B;B	0.21753	0.06;0.06	B;B	0.28305	0.088;0.088	T	0.30446	-0.9978	9	.	.	.	.	4.1599	0.10278	0.0:0.3458:0.1815:0.4727	.	216;216	B2R717;O60911	.;CATL2_HUMAN	D	216	ENSP00000259470:E216D;ENSP00000445052:E216D	.	E	-	3	2	CTSL2	98837770	0.001000	0.12720	0.013000	0.15412	0.534000	0.34807	-0.225000	0.09151	-0.078000	0.12730	0.561000	0.74099	GAG		0.473	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
RP11-498P14.3	0	broad.mit.edu	37	9	99961416	99961416	+	lincRNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:99961416G>T	ENST00000416066.1	-	0	0																		p.F126L(1)									CACATGTATAGAATTTTTTAC	0.398																																					p.F126L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C378A	9						.						80.0	85.0	83.0					9																	99961416		2201	4298	6499	99001237			387328	exon1																															9.37:g.99961416G>T			99001237	NM_199005		Missense_Mutation	SNP	ENST00000416066.1	37		.	.	.	.	.	.	.	.	.	.	N	2.463	-0.323649	0.05350	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.170851	0.28273	N	0.015953	T	0.62720	0.2451	.	.	.	0.29546	N	0.851708	D	0.53885	0.963	D	0.67231	0.95	T	0.65994	-0.6033	5	.	.	.	-3.7839	5.8178	0.18506	0.001:0.0:0.999:0.0	.	126	Q5SYY0	Z322B_HUMAN	L	126	.	.	F	-	3	2	ZNF322P1	99001237	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-2.069000	0.01381	-0.000000	0.14550	0.000000	0.15137	TTC		0.398	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1		
CCDC180	100499483	broad.mit.edu	37	9	100092619	100092619	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100092619C>A	ENST00000357054.1	+	32	3328	c.2393C>A	c.(2392-2394)cCc>cAc	p.P798H	CCDC180_ENST00000529487.1_Missense_Mutation_p.P659H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.P659H|CCDC180_ENST00000411667.2_Missense_Mutation_p.P656H|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	798						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P798H(1)									CATGAAAAACCCTCCCAGAAG	0.468																																					p.P659H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1976A	9						.						64.0	66.0	65.0					9																	100092619		2203	4300	6503	99132440	SO:0001583	missense	57653	exon18			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2393C>A	9.37:g.100092619C>A	ENSP00000349562:p.Pro798His		99132440	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	C	0.997	-0.692193	0.03303	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.11712	3.11;3.12;2.75;3.12	4.78	-9.56	0.00566	.	4.086120	0.00481	N	0.000126	T	0.02610	0.0079	N	0.01048	-1.04	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42189	-0.9466	10	0.39692	T	0.17	11.3151	0.9215	0.01316	0.1786:0.177:0.2657:0.3787	.	656;798;659;798	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	H	798;659;656;682;659	ENSP00000349562:P798H;ENSP00000364348:P659H;ENSP00000414000:P656H;ENSP00000434727:P659H	ENSP00000349562:P798H	P	+	2	0	C9orf174	99132440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.697000	0.01910	-3.758000	0.00110	-1.497000	0.00963	CCC		0.468	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
CCDC180	100499483	broad.mit.edu	37	9	100093035	100093035	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100093035T>G	ENST00000357054.1	+	32	3744	c.2809T>G	c.(2809-2811)Tta>Gta	p.L937V	CCDC180_ENST00000529487.1_Missense_Mutation_p.L798V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.L798V|CCDC180_ENST00000411667.2_Missense_Mutation_p.L795V|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	937	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L937V(1)									GCAAGAGAGTTTATCTGTGGG	0.488																																					p.L798V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2392G	9						.						97.0	114.0	108.0					9																	100093035		2200	4300	6500	99132856	SO:0001583	missense	57653	exon18			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2809T>G	9.37:g.100093035T>G	ENSP00000349562:p.Leu937Val		99132856	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		.	.	.	.	.	.	.	.	.	.	T	3.254	-0.152623	0.06585	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.09073	3.35;3.02;3.35;3.02	3.57	-1.86	0.07760	.	3.258890	0.00864	N	0.001945	T	0.06917	0.0176	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.31817	0.206;0.341;0.206;0.341;0.206	B;B;B;B;B	0.25140	0.058;0.058;0.058;0.058;0.058	T	0.25257	-1.0137	10	0.25106	T	0.35	5.7306	1.3402	0.02153	0.1777:0.1122:0.3648:0.3452	.	821;795;937;798;937	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	V	937;798;795;821;798	ENSP00000349562:L937V;ENSP00000364348:L798V;ENSP00000414000:L795V;ENSP00000434727:L798V	ENSP00000349562:L937V	L	+	1	2	C9orf174	99132856	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.254000	0.02874	-0.350000	0.08262	-0.379000	0.06801	TTA		0.488	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
CCDC180	100499483	broad.mit.edu	37	9	100137761	100137761	+	Missense_Mutation	SNP	G	G	A	rs147950391	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100137761G>A	ENST00000357054.1	+	48	5634	c.4699G>A	c.(4699-4701)Gaa>Aaa	p.E1567K	CCDC180_ENST00000529487.1_Missense_Mutation_p.E1622K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1622K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1567						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1567K(1)									CAAACCCACCGAAGTCACCAT	0.502													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		17869	0.0		0.0	False		,,,				2504	0.0				p.E1622K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4864A	9						.	G	LYS/GLU	36,4370	42.3+/-75.8	0,36,2167	162.0	132.0	142.0		4864	-1.1	0.0	9	dbSNP_134	142	0,8600		0,0,4300	yes	missense	C9orf174	NM_020893.2	56	0,36,6467	AA,AG,GG		0.0,0.8171,0.2768	possibly-damaging	1622/1702	100137761	36,12970	2203	4300	6503	99177582	SO:0001583	missense	57653	exon36			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4699G>A	9.37:g.100137761G>A	ENSP00000349562:p.Glu1567Lys		99177582	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37		10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	G	3.272	-0.148838	0.06627	0.008171	0.0	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.08458	3.12;3.09;3.09	5.58	-1.09	0.09904	.	0.846199	0.10782	N	0.634799	T	0.02047	0.0064	L	0.31294	0.92	0.09310	N	1	B;P	0.38745	0.309;0.645	B;B	0.29524	0.012;0.103	T	0.37979	-0.9682	10	0.41790	T	0.15	-4.9624	6.3114	0.21166	0.2297:0.3731:0.3972:0.0	.	1761;1567	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	K	1567;1622;1622	ENSP00000349562:E1567K;ENSP00000364348:E1622K;ENSP00000434727:E1622K	ENSP00000349562:E1567K	E	+	1	0	C9orf174	99177582	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.043000	0.12043	-0.089000	0.12484	-0.136000	0.14681	GAA		0.502	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
TDRD7	23424	broad.mit.edu	37	9	100235796	100235796	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100235796T>G	ENST00000355295.4	+	11	2262	c.1967T>G	c.(1966-1968)gTc>gGc	p.V656G	TDRD7_ENST00000422139.2_Missense_Mutation_p.V582G|TDRD7_ENST00000540902.1_Missense_Mutation_p.V5G	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	656					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.V656G(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TACACAAATGTCAAAGTAACT	0.438																																					p.V656G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1967G	9						.						193.0	176.0	182.0					9																	100235796		2203	4300	6503	99275617	SO:0001583	missense	23424	exon11			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1967T>G	9.37:g.100235796T>G	ENSP00000347444:p.Val656Gly		99275617	NM_014290	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310467	0.81358	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.49139	2.4;2.4;0.79	4.23	4.23	0.50019	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76200	-0.3046	10	0.87932	D	0	-19.29	13.1363	0.59411	0.0:0.0:0.0:1.0	.	5;656	Q8NHU6-3;Q8NHU6	.;TDRD7_HUMAN	G	656;582;5	ENSP00000347444:V656G;ENSP00000413608:V582G;ENSP00000440717:V5G	ENSP00000347444:V656G	V	+	2	0	TDRD7	99275617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.482000	0.81143	2.143000	0.66587	0.477000	0.44152	GTC		0.438	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TDRD7	23424	broad.mit.edu	37	9	100245609	100245609	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100245609T>C	ENST00000355295.4	+	15	3186	c.2891T>C	c.(2890-2892)gTg>gCg	p.V964A	TDRD7_ENST00000422139.2_Missense_Mutation_p.V890A|TDRD7_ENST00000540902.1_Missense_Mutation_p.V284A	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	964	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.V964A(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGACCAAGTGTATGCTGCA	0.403																																					p.V964A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2891C	9						.						64.0	59.0	61.0					9																	100245609		2203	4300	6503	99285430	SO:0001583	missense	23424	exon15			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2891T>C	9.37:g.100245609T>C	ENSP00000347444:p.Val964Ala		99285430	NM_014290	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206948	0.79127	.	.	ENSG00000196116	ENST00000355295;ENST00000422139;ENST00000540902	T;T;T	0.10763	2.84;2.84;2.84	5.36	4.22	0.49857	Maternal tudor protein (1);	0.184795	0.47852	D	0.000210	T	0.12860	0.0312	L	0.39020	1.185	0.39239	D	0.963814	D;D;P	0.54772	0.968;0.968;0.906	P;P;B	0.50708	0.648;0.57;0.446	T	0.16070	-1.0415	10	0.23302	T	0.38	-16.4307	10.1561	0.42823	0.0:0.0793:0.0:0.9207	.	284;890;964	Q8NHU6-3;Q8NHU6-2;Q8NHU6	.;.;TDRD7_HUMAN	A	964;890;284	ENSP00000347444:V964A;ENSP00000413608:V890A;ENSP00000440717:V284A	ENSP00000347444:V964A	V	+	2	0	TDRD7	99285430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	0.987000	0.38709	0.528000	0.53228	GTG		0.403	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TMOD1	7111	broad.mit.edu	37	9	100328233	100328233	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100328233C>T	ENST00000259365.4	+	7	935	c.722C>T	c.(721-723)gCg>gTg	p.A241V	TMOD1_ENST00000395211.2_Missense_Mutation_p.A241V|TMOD1_ENST00000375175.1_Missense_Mutation_p.A114V	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	241					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.A241V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GACCCCGTGGCGTATGTATGT	0.493																																					p.A241V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C722T	9						.						191.0	195.0	194.0					9																	100328233		2203	4300	6503	99368054	SO:0001583	missense	7111	exon7				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.722C>T	9.37:g.100328233C>T	ENSP00000259365:p.Ala241Val		99368054	NM_001166116	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723705	0.68959	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.93019	-3.15;-3.15;-3.15	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	D	0.97034	0.9752	10	0.59425	D	0.04	-15.5718	17.6093	0.88048	0.0:1.0:0.0:0.0	.	241	P28289	TMOD1_HUMAN	V	241;241;114	ENSP00000378637:A241V;ENSP00000259365:A241V;ENSP00000364318:A114V	ENSP00000259365:A241V	A	+	2	0	TMOD1	99368054	1.000000	0.71417	0.938000	0.37757	0.053000	0.15095	7.407000	0.80029	2.550000	0.86006	0.561000	0.74099	GCG		0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	
TSTD2	158427	broad.mit.edu	37	9	100373978	100373978	+	Nonsense_Mutation	SNP	G	G	A	rs200562502		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100373978G>A	ENST00000341170.4	-	5	989	c.607C>T	c.(607-609)Cga>Tga	p.R203*	TSTD2_ENST00000354801.2_Intron|TSTD2_ENST00000484708.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	203								p.R203*(1)		large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GCAGCAATTCGAATCTGAGAC	0.413																																					p.R203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C607T	9						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	140.0	128.0	132.0		607	4.0	1.0	9		132	0,8600		0,0,4300	yes	stop-gained	TSTD2	NM_139246.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		203/517	100373978	1,13005	2203	4300	6503	99413799	SO:0001587	stop_gained	158427	exon5			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.607C>T	9.37:g.100373978G>A	ENSP00000342499:p.Arg203*		99413799	NM_139246	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	ENST00000341170.4	37	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	G	38	7.225400	0.98146	2.27E-4	0.0	ENSG00000136925	ENST00000341170	.	.	.	4.94	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.7982	14.9831	0.71327	0.0:0.0:0.8557:0.1443	.	.	.	.	X	203	.	ENSP00000342499:R203X	R	-	1	2	TSTD2	99413799	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.735000	0.68587	1.359000	0.45940	0.563000	0.77884	CGA		0.413	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246	
NCBP1	4686	broad.mit.edu	37	9	100431192	100431192	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100431192G>A	ENST00000375147.3	+	21	2337	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	694					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)	p.R694Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CAAATAGAACGACTTCAGGAA	0.383																																					p.R694Q	Ovarian(36;879 898 2893 44212 50307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2081A	9						.						108.0	109.0	109.0					9																	100431192		2203	4300	6503	99471013	SO:0001583	missense	4686	exon21			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.2081G>A	9.37:g.100431192G>A	ENSP00000364289:p.Arg694Gln		99471013	NM_002486	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544578	0.86022	.	.	ENSG00000136937	ENST00000375147;ENST00000375130	.	.	.	5.71	5.71	0.89125	MIF4G-like, type 2 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59404	0.2191	M	0.64404	1.975	0.80722	D	1	P	0.47253	0.892	B	0.42555	0.391	T	0.58081	-0.7699	9	0.31617	T	0.26	-18.4134	19.0048	0.92846	0.0:0.0:1.0:0.0	.	694	Q09161	NCBP1_HUMAN	Q	694;47	.	ENSP00000364272:R47Q	R	+	2	0	NCBP1	99471013	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.326000	0.79133	2.854000	0.98071	0.655000	0.94253	CGA		0.383	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
C9orf156	51531	broad.mit.edu	37	9	100672462	100672462	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100672462C>A	ENST00000375119.3	-	4	922	c.846G>T	c.(844-846)gaG>gaT	p.E282D	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	282					viral process (GO:0016032)		hydrolase activity (GO:0016787)	p.E282D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTGTACCTTTCTCTGAAAAGC	0.502																																					p.E282D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G846T	9						.						139.0	130.0	133.0					9																	100672462		2203	4300	6503	99712283	SO:0001583	missense	51531	exon4			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.846G>T	9.37:g.100672462C>A	ENSP00000364260:p.Glu282Asp		99712283	NM_016481	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738880	0.30774	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.34275	1.8;1.37	5.03	-0.441	0.12257	Uncharacterised domain UPF0066, YaeB-like domain (1);	0.414623	0.27031	N	0.021278	T	0.38188	0.1031	L	0.52573	1.65	0.09310	N	0.999991	D;B;B	0.56968	0.978;0.041;0.005	P;B;B	0.57776	0.827;0.046;0.004	T	0.18555	-1.0333	10	0.87932	D	0	-27.2378	2.2879	0.04131	0.134:0.482:0.132:0.252	.	179;136;282	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	D	282;136;179	ENSP00000364260:E282D;ENSP00000364259:E136D	ENSP00000324426:E179D	E	-	3	2	C9orf156	99712283	0.000000	0.05858	0.077000	0.20336	0.071000	0.16799	-0.430000	0.06973	0.236000	0.21180	0.563000	0.77884	GAG		0.502	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481	
C9orf156	51531	broad.mit.edu	37	9	100672785	100672785	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100672785C>A	ENST00000375119.3	-	4	599	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	175					viral process (GO:0016032)		hydrolase activity (GO:0016787)	p.D175Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAATTAAAGTCTGCTAAAGGC	0.463																																					p.D175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523T	9						.						146.0	139.0	141.0					9																	100672785		2203	4300	6503	99712606	SO:0001583	missense	51531	exon4			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.523G>T	9.37:g.100672785C>A	ENSP00000364260:p.Asp175Tyr		99712606	NM_016481	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082000	0.55861	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.42513	0.97;0.97	5.09	3.22	0.36961	Uncharacterised domain UPF0066, YaeB-like domain (2);	0.586022	0.16274	N	0.221630	T	0.41534	0.1163	N	0.14661	0.345	0.09310	N	1	D;D;P	0.71674	0.998;0.997;0.761	P;D;B	0.63192	0.888;0.912;0.202	T	0.20306	-1.0279	10	0.87932	D	0	-6.5324	8.8748	0.35339	0.0:0.8115:0.0:0.1885	.	72;29;175	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	Y	175;29;72	ENSP00000364260:D175Y;ENSP00000364259:D29Y	ENSP00000324426:D72Y	D	-	1	0	C9orf156	99712606	0.038000	0.19896	0.001000	0.08648	0.208000	0.24298	1.132000	0.31418	0.633000	0.30452	0.563000	0.77884	GAC		0.463	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481	
HEMGN	55363	broad.mit.edu	37	9	100689698	100689698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100689698C>A	ENST00000259456.3	-	5	1566	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	475					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.E475*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACATCATTTTCTGGATGACTC	0.303																																					p.E475X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1423T	9						.						164.0	164.0	164.0					9																	100689698		2203	4299	6502	99729519	SO:0001587	stop_gained	55363	exon4			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1423G>T	9.37:g.100689698C>A	ENSP00000259456:p.Glu475*		99729519	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Nonsense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	35	5.460987	0.96240	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.0	3.1	0.35709	.	0.434126	0.21699	N	0.070460	.	.	.	.	.	.	0.40506	D	0.980693	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.7707	7.5122	0.27579	0.0:0.8845:0.0:0.1155	.	.	.	.	X	475	.	ENSP00000259456:E475X	E	-	1	0	HEMGN	99729519	0.976000	0.34144	0.779000	0.31741	0.644000	0.38419	1.801000	0.38843	1.263000	0.44181	0.491000	0.48974	GAA		0.303	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
HEMGN	55363	broad.mit.edu	37	9	100693459	100693459	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100693459C>T	ENST00000259456.3	-	4	361	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	73	Necessary for nuclear localization.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.R73Q(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTCTTCGATTTCCTTT	0.413																																					p.R73Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G218A	9						.						148.0	147.0	147.0					9																	100693459		2203	4300	6503	99733280	SO:0001583	missense	55363	exon3			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.218G>A	9.37:g.100693459C>T	ENSP00000259456:p.Arg73Gln		99733280	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	9.245	1.039257	0.19669	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.3	0.438	0.16560	.	1.722310	0.02872	N	0.131675	T	0.10294	0.0252	N	0.01352	-0.895	0.21290	N	0.999736	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	9	0.10902	T	0.67	0.1231	4.0164	0.09646	0.0:0.1953:0.1787:0.6259	.	73	Q9BXL5	HEMGN_HUMAN	Q	73	.	ENSP00000259456:R73Q	R	-	2	0	HEMGN	99733280	0.033000	0.19621	0.976000	0.42696	0.969000	0.65631	-0.212000	0.09319	0.062000	0.16340	-0.383000	0.06682	CGA		0.413	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
NANS	54187	broad.mit.edu	37	9	100845323	100845323	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100845323A>C	ENST00000210444.5	+	6	1136	c.1066A>C	c.(1066-1068)Aaa>Caa	p.K356Q	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron|TRIM14_ENST00000478530.1_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	356					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)	p.K356Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCATGGCAAAAAAATCAAGTC	0.443																																					p.K356Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1066C	9						.						66.0	65.0	65.0					9																	100845323		2203	4300	6503	99885144	SO:0001583	missense	54187	exon6			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.1066A>C	9.37:g.100845323A>C	ENSP00000210444:p.Lys356Gln		99885144	NM_018946	B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400184	0.62177	.	.	ENSG00000095380	ENST00000210444	T	0.49139	0.79	5.46	5.46	0.80206	Antifreeze-like/N-acetylneuraminic acid synthase C-terminal (2);	0.130231	0.64402	D	0.000001	T	0.33235	0.0856	N	0.19112	0.55	0.80722	D	1	B	0.29988	0.264	B	0.23150	0.044	T	0.22730	-1.0208	10	0.66056	D	0.02	-20.0984	13.8044	0.63220	1.0:0.0:0.0:0.0	.	356	Q9NR45	SIAS_HUMAN	Q	356	ENSP00000210444:K356Q	ENSP00000210444:K356Q	K	+	1	0	NANS	99885144	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.778000	0.75043	2.223000	0.72356	0.454000	0.30748	AAA		0.443	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946	
CORO2A	7464	broad.mit.edu	37	9	100890958	100890958	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:100890958G>T	ENST00000343933.5	-	9	1268	c.1011C>A	c.(1009-1011)atC>atA	p.I337I	CORO2A_ENST00000375077.4_Silent_p.I337I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	337					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.I337I(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAGCGGAAGATCTCGCAGG	0.592																																					p.I337I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011A	9						.						121.0	107.0	112.0					9																	100890958		2203	4300	6503	99930779	SO:0001819	synonymous_variant	7464	exon9			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1011C>A	9.37:g.100890958G>T			99930779	NM_003389	Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	CCDS6735.1																																																																																				0.592	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389	
CACNA1B	774	broad.mit.edu	37	9	140811755	140811755	+	Missense_Mutation	SNP	G	G	A	rs200775337		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:140811755G>A	ENST00000371372.1	+	6	983	c.838G>A	c.(838-840)Gac>Aac	p.D280N	CACNA1B_ENST00000277551.2_Missense_Mutation_p.D280N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D280N|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D280N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D280N	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	280					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.D280N(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)	GTGCGAGGGCGACACTGAGTG	0.577																																					p.D280N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	9						.						104.0	119.0	114.0					9																	140811755		2131	4261	6392	139931576	SO:0001583	missense	774	exon6			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.838G>A	9.37:g.140811755G>A	ENSP00000360423:p.Asp280Asn		139931576	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171316	0.38315	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.83;-3.83	4.86	3.96	0.45880	.	0.111133	0.64402	N	0.000010	D	0.83631	0.5296	N	0.00754	-1.215	0.80722	D	1	B	0.16166	0.016	B	0.12837	0.008	T	0.79017	-0.1975	10	0.52906	T	0.07	.	9.4409	0.38668	0.1623:0.0:0.8377:0.0	.	280	B1AQK6	.	N	280	ENSP00000360423:D280N;ENSP00000277551:D280N;ENSP00000360414:D280N;ENSP00000360408:D280N;ENSP00000360406:D280N	ENSP00000277551:D280N	D	+	1	0	CACNA1B	139931576	1.000000	0.71417	0.678000	0.29963	0.411000	0.31082	7.716000	0.84723	1.161000	0.42604	0.655000	0.94253	GAC		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
NALCN	259232	broad.mit.edu	37	13	101760101	101760101	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:101760101C>A	ENST00000251127.6	-	21	2485	c.2404G>T	c.(2404-2406)Gac>Tac	p.D802Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	802					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.D802Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTCACTGTCTTCTCTTTGT	0.378																																					p.D802Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2404T	13						.						202.0	174.0	184.0					13																	101760101		2203	4300	6503	100558102	SO:0001583	missense	259232	exon21			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2404G>T	13.37:g.101760101C>A	ENSP00000251127:p.Asp802Tyr		100558102	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095616	0.56075	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	D	0.66602	0.945	D	0.99647	1.0990	10	0.87932	D	0	.	19.5008	0.95093	0.0:1.0:0.0:0.0	.	802	Q8IZF0	NALCN_HUMAN	Y	802	ENSP00000251127:D802Y	ENSP00000251127:D802Y	D	-	1	0	NALCN	100558102	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.743000	0.68655	2.594000	0.87642	0.650000	0.86243	GAC		0.378	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
NALCN	259232	broad.mit.edu	37	13	102029339	102029339	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:102029339C>A	ENST00000251127.6	-	5	525	c.444G>T	c.(442-444)ctG>ctT	p.L148L	NALCN_ENST00000376196.3_Silent_p.L148L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.L148L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	148					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.L148L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGATCATAATCAGTGGCCGTG	0.398																																					p.L148L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444T	13						.						74.0	73.0	74.0					13																	102029339		2203	4300	6503	100827340	SO:0001819	synonymous_variant	259232	exon5			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.444G>T	13.37:g.102029339C>A			100827340	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	CCDS9498.1																																																																																				0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ITGBL1	9358	broad.mit.edu	37	13	102231702	102231702	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:102231702A>C	ENST00000376180.3	+	5	870	c.651A>C	c.(649-651)gaA>gaC	p.E217D	ITGBL1_ENST00000376162.3_Missense_Mutation_p.E124D|ITGBL1_ENST00000545560.2_Missense_Mutation_p.E76D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	217	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.E217D(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATAAATGTGAATTCCAGTGCG	0.438																																					p.E217D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A651C	13						.						158.0	147.0	150.0					13																	102231702		2203	4300	6503	101029703	SO:0001583	missense	9358	exon5			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.651A>C	13.37:g.102231702A>C	ENSP00000365351:p.Glu217Asp		101029703	NM_004791	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322809	0.60634	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92595	-3.07;-3.07;-3.07	5.29	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	N	0.22421	0.69	0.51482	D	0.999928	P;D	0.65815	0.779;0.995	P;D	0.67382	0.814;0.951	D	0.85614	0.1260	10	0.10111	T	0.7	.	10.5043	0.44823	0.9221:0.0:0.0778:0.0	.	76;217	B3KTP1;O95965	.;ITGBL_HUMAN	D	217;125;76;76;124	ENSP00000365351:E217D;ENSP00000439903:E76D;ENSP00000365332:E124D	ENSP00000365332:E124D	E	+	3	2	ITGBL1	101029703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.764000	0.38471	0.968000	0.38212	0.460000	0.39030	GAA		0.438	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	
FGF14	2259	broad.mit.edu	37	13	102568818	102568818	+	Missense_Mutation	SNP	T	T	C	rs368619012		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:102568818T>C	ENST00000376143.4	-	1	177	c.178A>G	c.(178-180)Agg>Ggg	p.R60G	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	60					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R60G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGCCGCAACCTGCGCTTCTTG	0.657																																					p.R60G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A178G	13						.						45.0	46.0	46.0					13																	102568818		2203	4300	6503	101366819	SO:0001583	missense	2259	exon1				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.178A>G	13.37:g.102568818T>C	ENSP00000365313:p.Arg60Gly		101366819	NM_004115	Q86YN7|Q96QX6	Intron	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762031	0.31228	.	.	ENSG00000102466	ENST00000376143	T	0.78595	-1.19	5.36	5.36	0.76844	.	.	.	.	.	T	0.70692	0.3253	L	0.43152	1.355	0.31663	N	0.645386	B	0.22211	0.066	B	0.22753	0.041	T	0.69752	-0.5060	9	0.30078	T	0.28	.	12.5174	0.56040	0.0:0.0:0.1388:0.8612	.	60	Q92915	FGF14_HUMAN	G	60	ENSP00000365313:R60G	ENSP00000365313:R60G	R	-	1	2	FGF14	101366819	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	3.756000	0.55205	2.023000	0.59567	0.460000	0.39030	AGG		0.657	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
FGF14	2259	broad.mit.edu	37	13	103053933	103053933	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103053933C>A	ENST00000376131.4	-	1	191	c.96G>T	c.(94-96)ctG>ctT	p.L32L	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.L32L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAAGCAATCCAGCAGCTTAG	0.413																																					p.L32L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G96T	13						.						93.0	86.0	88.0					13																	103053933		2203	4300	6503	101851934	SO:0001819	synonymous_variant	2259	exon1				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.96G>T	13.37:g.103053933C>A			101851934	NM_175929	Q86YN7|Q96QX6	Silent	SNP	ENST00000376131.4	37	CCDS9500.1																																																																																				0.413	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5		
TPP2	7174	broad.mit.edu	37	13	103280245	103280245	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103280245C>T	ENST00000376065.4	+	8	1023	c.987C>T	c.(985-987)taC>taT	p.Y329Y	TPP2_ENST00000376052.3_Silent_p.Y329Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	329	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.Y329Y(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTACAGTTACGGAGAAGCAA	0.363																																					p.Y329Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C987T	13						.						110.0	101.0	104.0					13																	103280245		2203	4300	6503	102078246	SO:0001819	synonymous_variant	7174	exon8			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.987C>T	13.37:g.103280245C>T			102078246	NM_003291	Q5VZU8	Silent	SNP	ENST00000376065.4	37	CCDS9502.1																																																																																				0.363	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
TPP2	7174	broad.mit.edu	37	13	103288611	103288611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103288611C>A	ENST00000376065.4	+	13	1583	c.1547C>A	c.(1546-1548)tCa>tAa	p.S516*	TPP2_ENST00000376052.3_Nonsense_Mutation_p.S516*	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	516					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.S516*(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAATACATCATTTGCTAAT	0.368																																					p.S516X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1547A	13						.						94.0	85.0	88.0					13																	103288611		2203	4300	6503	102086612	SO:0001587	stop_gained	7174	exon13			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.1547C>A	13.37:g.103288611C>A	ENSP00000365233:p.Ser516*		102086612	NM_003291	Q5VZU8	Nonsense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	39	7.435403	0.98282	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.96	5.96	0.96718	.	0.193278	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	516	.	ENSP00000365220:S516X	S	+	2	0	TPP2	102086612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	TCA		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
TPP2	7174	broad.mit.edu	37	13	103317230	103317230	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103317230T>G	ENST00000376065.4	+	26	3323	c.3287T>G	c.(3286-3288)aTt>aGt	p.I1096S	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.I1109S	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1096					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.I1096S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGTTTATATTGCAATGAAG	0.353																																					p.I1096S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3287G	13						.						78.0	77.0	77.0					13																	103317230		2203	4300	6503	102115231	SO:0001583	missense	7174	exon26			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3287T>G	13.37:g.103317230T>G	ENSP00000365233:p.Ile1096Ser		102115231	NM_003291	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314154	0.60414	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.72	5.72	0.89469	.	0.219650	0.47852	D	0.000209	T	0.40448	0.1117	N	0.08118	0	0.50039	D	0.999849	B	0.24675	0.109	B	0.19666	0.026	T	0.37572	-0.9700	9	0.72032	D	0.01	.	16.0016	0.80297	0.0:0.0:0.0:1.0	.	1096	P29144	TPP2_HUMAN	S	1096;1109	.	ENSP00000365220:I1109S	I	+	2	0	TPP2	102115231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.437000	0.80417	2.183000	0.69458	0.533000	0.62120	ATT		0.353	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
TEX30	93081	broad.mit.edu	37	13	103419754	103419754	+	Missense_Mutation	SNP	G	G	A	rs199524126		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103419754G>A	ENST00000376032.4	-	5	562	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376021.4_Missense_Mutation_p.R84W|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376019.1_Missense_Mutation_p.R84W	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	125								p.R84W(2)		lung(1)|urinary_tract(1)	2						ATGAGACCCCGAACAAAATCA	0.408																																					p.R125W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C373T	13						.	G	TRP/ARG	0,4406		0,0,2203	82.0	75.0	77.0		373	4.6	1.0	13		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	C13orf27	NM_138779.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	125/228	103419754	1,13005	2203	4300	6503	102217755	SO:0001583	missense	93081	exon5			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.373C>T	13.37:g.103419754G>A	ENSP00000365200:p.Arg125Trp		102217755	NM_138779	Q5JUR8|Q96KZ8	Missense_Mutation	SNP	ENST00000376032.4	37	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182178	0.78677	0.0	1.16E-4	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	T;T;T	0.24350	1.86;1.86;1.86	5.48	4.62	0.57501	.	0.062786	0.64402	D	0.000004	T	0.34978	0.0916	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.54174	0.744	T	0.14952	-1.0454	10	0.66056	D	0.02	-19.9593	15.7952	0.78404	0.0:0.0:0.8627:0.1373	.	125	Q5JUR7	CM027_HUMAN	W	84;84;125	ENSP00000365187:R84W;ENSP00000365189:R84W;ENSP00000365200:R125W	ENSP00000365187:R84W	R	-	1	2	C13orf27	102217755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.477000	0.60223	1.406000	0.46857	0.591000	0.81541	CGG		0.408	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779	
KDELC1	79070	broad.mit.edu	37	13	103440228	103440228	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103440228G>T	ENST00000376004.4	-	8	1675	c.1339C>A	c.(1339-1341)Ctc>Atc	p.L447I	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	447						endoplasmic reticulum lumen (GO:0005788)		p.L447I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCGCCCATGAGATTATTTCTT	0.348																																					p.L447I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1339A	13						.						108.0	101.0	104.0					13																	103440228		2202	4299	6501	102238229	SO:0001583	missense	79070	exon8			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1339C>A	13.37:g.103440228G>T	ENSP00000365172:p.Leu447Ile		102238229	NM_024089	Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301559	0.95601	.	.	ENSG00000134901	ENST00000376004	T	0.38560	1.13	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81086	-0.1092	10	0.66056	D	0.02	.	19.888	0.96917	0.0:0.0:1.0:0.0	.	447	Q6UW63	KDEL1_HUMAN	I	447	ENSP00000365172:L447I	ENSP00000365172:L447I	L	-	1	0	KDELC1	102238229	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.622000	0.83099	2.720000	0.93068	0.591000	0.81541	CTC		0.348	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1		
KDELC1	79070	broad.mit.edu	37	13	103443320	103443320	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103443320G>A	ENST00000376004.4	-	6	1350	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	338						endoplasmic reticulum lumen (GO:0005788)		p.F338F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTTTAAAGAAGAAAAAGTTGG	0.403																																					p.F338F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1014T	13						.						70.0	73.0	72.0					13																	103443320		2203	4300	6503	102241321	SO:0001819	synonymous_variant	79070	exon6			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1014C>T	13.37:g.103443320G>A			102241321	NM_024089	Q53HL3|Q9BVD2	Silent	SNP	ENST00000376004.4	37	CCDS9504.1																																																																																				0.403	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1		
BIVM	54841	broad.mit.edu	37	13	103459698	103459698	+	Missense_Mutation	SNP	G	G	T	rs142016216		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103459698G>T	ENST00000257336.1	+	3	760	c.81G>T	c.(79-81)gaG>gaT	p.E27D	BIVM_ENST00000419638.1_Missense_Mutation_p.E27D|BIVM_ENST00000491929.1_3'UTR|BIVM_ENST00000448849.2_Intron|BIVM-ERCC5_ENST00000602836.1_5'Flank	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	27						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E27D(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCTGAAGAGAATCTACAAG	0.438																																					p.E27D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G81T	13						.						73.0	71.0	72.0					13																	103459698		2203	4300	6503	102257699	SO:0001583	missense	2073	exon3			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.81G>T	13.37:g.103459698G>T	ENSP00000257336:p.Glu27Asp		102257699	NM_017693	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	G	4.983	0.182616	0.09495	.	.	ENSG00000134897	ENST00000257336;ENST00000419638	.	.	.	5.75	3.14	0.36123	.	0.063315	0.64402	N	0.000012	T	0.21881	0.0527	N	0.19112	0.55	0.30232	N	0.795782	B	0.02656	0.0	B	0.04013	0.001	T	0.10268	-1.0637	9	0.33141	T	0.24	.	2.2416	0.04021	0.1409:0.218:0.4238:0.2174	.	27	Q86UB2	BIVM_HUMAN	D	27	.	ENSP00000257336:E27D	E	+	3	2	BIVM	102257699	0.703000	0.27826	0.837000	0.33122	0.482000	0.33219	0.432000	0.21461	0.383000	0.24910	-0.751000	0.03497	GAG		0.438	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
ERCC5	2073	broad.mit.edu	37	13	103524735	103524735	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:103524735G>A	ENST00000355739.4	+	13	4289	c.2866G>A	c.(2866-2868)Gac>Aac	p.D956N	ERCC5_ENST00000375954.1_Missense_Mutation_p.D189N|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R1381Q	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	956					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.D956N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCTGATCTCGACAAAATTAG	0.438			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.D956N		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2866A	13						.						56.0	54.0	54.0					13																	103524735		2203	4300	6503	102322736	SO:0001583	missense	2073	exon13	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2866G>A	13.37:g.103524735G>A	ENSP00000347978:p.Asp956Asn		102322736	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976833	0.53720	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.79454	-1.27;-1.27	5.54	5.54	0.83059	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.532373	0.21339	N	0.076161	T	0.76744	0.4030	L	0.55103	1.725	0.80722	D	1	D;D	0.58620	0.983;0.959	B;B	0.42319	0.359;0.383	T	0.79895	-0.1610	10	0.56958	D	0.05	-5.1094	19.4954	0.95070	0.0:0.0:1.0:0.0	.	956;1381	P28715;Q59FZ7	ERCC5_HUMAN;.	N	1381;956;788;189	ENSP00000347978:D956N;ENSP00000365121:D189N	ENSP00000347978:D956N	D	+	1	0	ERCC5	102322736	1.000000	0.71417	0.014000	0.15608	0.492000	0.33523	6.552000	0.73914	2.607000	0.88179	0.655000	0.94253	GAC		0.438	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
EFNB2	1948	broad.mit.edu	37	13	107147256	107147256	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:107147256T>C	ENST00000245323.4	-	4	735	c.586A>G	c.(586-588)Aca>Gca	p.T196A		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	196					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)	p.T196A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAGGGACTTGTTGTCGAACTT	0.408																																					p.T196A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A586G	13						.						305.0	275.0	285.0					13																	107147256		2203	4300	6503	105945257	SO:0001583	missense	1948	exon4			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.586A>G	13.37:g.107147256T>C	ENSP00000245323:p.Thr196Ala		105945257	NM_004093	Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	T	3.826	-0.036797	0.07497	.	.	ENSG00000125266	ENST00000245323	D	0.90385	-2.66	6.07	6.07	0.98685	.	0.208574	0.51477	D	0.000097	T	0.80444	0.4624	N	0.11560	0.145	0.58432	D	0.999994	B	0.24092	0.097	B	0.23716	0.048	T	0.76515	-0.2931	10	0.05436	T	0.98	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	196	P52799	EFNB2_HUMAN	A	196	ENSP00000245323:T196A	ENSP00000245323:T196A	T	-	1	0	EFNB2	105945257	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.505000	0.66981	2.330000	0.79161	0.528000	0.53228	ACA		0.408	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093	
LIG4	3981	broad.mit.edu	37	13	108861527	108861527	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:108861527G>A	ENST00000356922.4	-	2	2362	c.2090C>T	c.(2089-2091)aCg>aTg	p.T697M	LIG4_ENST00000405925.1_Missense_Mutation_p.T697M|LIG4_ENST00000442234.1_Missense_Mutation_p.T697M	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	697	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.T697M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACACAGTACGTGTCTGGGCC	0.393								Non-homologous end-joining																													p.T697M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2090T	13						.						79.0	77.0	78.0					13																	108861527		2203	4300	6503	107659528	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2090C>T	13.37:g.108861527G>A	ENSP00000349393:p.Thr697Met		107659528	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472941	0.84640	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.12984	2.63;2.63;2.63	5.83	5.83	0.93111	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16837	-1.0389	10	0.62326	D	0.03	.	19.1803	0.93620	0.0:0.0:1.0:0.0	.	697	P49917	DNLI4_HUMAN	M	697	ENSP00000385955:T697M;ENSP00000402030:T697M;ENSP00000349393:T697M	ENSP00000349393:T697M	T	-	2	0	LIG4	107659528	1.000000	0.71417	0.966000	0.40874	0.940000	0.58332	9.787000	0.99055	2.775000	0.95449	0.539000	0.68188	ACG		0.393	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
ABHD13	84945	broad.mit.edu	37	13	108881742	108881742	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:108881742A>C	ENST00000375898.3	+	2	477	c.176A>C	c.(175-177)aAa>aCa	p.K59T		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	59						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.K59T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATTCTGTATAAATTCCAGGAT	0.353																																					p.K59T	Pancreas(22;506 789 38166 45896 51596)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A176C	13						.						110.0	116.0	114.0					13																	108881742		2203	4299	6502	107679743	SO:0001583	missense	84945	exon2			AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.176A>C	13.37:g.108881742A>C	ENSP00000365063:p.Lys59Thr		107679743	NM_032859	B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789755	0.31685	.	.	ENSG00000139826	ENST00000375898	T	0.16897	2.31	5.68	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.45581	1.43	0.58432	D	0.999999	P	0.42649	0.786	B	0.37451	0.25	T	0.06991	-1.0796	10	0.21014	T	0.42	-24.1899	10.7389	0.46141	0.9254:0.0:0.0746:0.0	.	59	Q7L211	ABHDD_HUMAN	T	59	ENSP00000365063:K59T	ENSP00000365063:K59T	K	+	2	0	ABHD13	107679743	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.054000	0.76649	0.969000	0.38237	0.455000	0.32223	AAA		0.353	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859	
TNFSF13B	10673	broad.mit.edu	37	13	108959224	108959224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:108959224G>T	ENST00000375887.4	+	6	974	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TNFSF13B_ENST00000430559.1_Nonsense_Mutation_p.E247*	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	266					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.E266*(1)		large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AATACCAAGAGAAAATGCACA	0.378																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	13						.						143.0	123.0	130.0					13																	108959224		2203	4300	6503	107757225	SO:0001587	stop_gained	10673	exon5			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.796G>T	13.37:g.108959224G>T	ENSP00000365048:p.Glu266*		107757225	NM_001145645	E0ADT7|Q6FHD6|Q7Z5J2	Nonsense_Mutation	SNP	ENST00000375887.4	37	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700119	0.88924	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	.	.	.	5.49	4.63	0.57726	.	0.540943	0.21152	N	0.079315	.	.	.	.	.	.	0.26442	N	0.975759	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.5953	6.1949	0.20544	0.2349:0.0:0.7651:0.0	.	.	.	.	X	247;266	.	.	E	+	1	0	TNFSF13B	107757225	0.910000	0.30920	0.400000	0.26346	0.857000	0.48899	2.203000	0.42752	2.722000	0.93159	0.591000	0.81541	GAA		0.378	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3		
MYO16	23026	broad.mit.edu	37	13	109704802	109704802	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:109704802G>T	ENST00000357550.2	+	24	3002	c.2961G>T	c.(2959-2961)aaG>aaT	p.K987N	MYO16_ENST00000457511.2_Missense_Mutation_p.K499N|MYO16_ENST00000356711.2_Missense_Mutation_p.K987N	NM_001198950.1	NP_001185879.1			myosin XVI									p.K987N(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGAAAACAAGAATTATCTAG	0.308																																					p.K1009N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3027T	13						.						75.0	74.0	74.0					13																	109704802		2203	4300	6503	108502803	SO:0001583	missense	23026	exon25				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2961G>T	13.37:g.109704802G>T	ENSP00000350160:p.Lys987Asn		108502803	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846438	0.71603	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.87809	-2.3;-2.3;-2.3	5.66	4.8	0.61643	Myosin head, motor domain (2);	0.412552	0.17657	U	0.166471	D	0.87018	0.6073	M	0.62723	1.935	0.45648	D	0.998573	P;B;P	0.40970	0.726;0.328;0.734	P;B;P	0.46049	0.474;0.284;0.502	D	0.85031	0.0917	9	.	.	.	.	10.4446	0.44486	0.1495:0.0:0.8505:0.0	.	499;987;987	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	N	987;987;775;499	ENSP00000349145:K987N;ENSP00000350160:K987N;ENSP00000401633:K499N	.	K	+	3	2	MYO16	108502803	1.000000	0.71417	0.828000	0.32881	0.990000	0.78478	4.205000	0.58466	2.669000	0.90835	0.591000	0.81541	AAG		0.308	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109707770	109707770	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:109707770G>T	ENST00000357550.2	+	26	3137	c.3096G>T	c.(3094-3096)caG>caT	p.Q1032H	MYO16_ENST00000457511.2_Missense_Mutation_p.Q544H|MYO16_ENST00000356711.2_Missense_Mutation_p.Q1032H	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q1032H(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAAAACTTCAGAAGTGCACTC	0.363																																					p.Q1054H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3162T	13						.						74.0	72.0	73.0					13																	109707770		2203	4299	6502	108505771	SO:0001583	missense	23026	exon27				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3096G>T	13.37:g.109707770G>T	ENSP00000350160:p.Gln1032His		108505771	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965788	0.74131	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.87491	-2.26;-2.26;-2.26	5.21	4.36	0.52297	Myosin head, motor domain (2);	0.192600	0.25114	U	0.033033	D	0.88526	0.6460	L	0.38531	1.155	0.53005	D	0.99996	P;P;D	0.56746	0.898;0.776;0.977	P;P;P	0.62885	0.805;0.714;0.908	D	0.86798	0.1990	9	.	.	.	.	13.2916	0.60274	0.0773:0.0:0.9227:0.0	.	544;1032;1032	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	H	1032;1032;820;544	ENSP00000349145:Q1032H;ENSP00000350160:Q1032H;ENSP00000401633:Q544H	.	Q	+	3	2	MYO16	108505771	1.000000	0.71417	0.896000	0.35187	0.922000	0.55478	4.660000	0.61511	1.158000	0.42547	0.561000	0.74099	CAG		0.363	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109772791	109772791	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:109772791G>T	ENST00000357550.2	+	28	3487	c.3446G>T	c.(3445-3447)aGa>aTa	p.R1149I	MYO16_ENST00000457511.2_Missense_Mutation_p.R661I|MYO16_ENST00000356711.2_Missense_Mutation_p.R1149I	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1149I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGTTGCAGAGAAAAATTATA	0.353																																					p.R1171I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3512T	13						.						111.0	107.0	108.0					13																	109772791		2203	4300	6503	108570792	SO:0001583	missense	23026	exon29				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3446G>T	13.37:g.109772791G>T	ENSP00000350160:p.Arg1149Ile		108570792	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631771	0.46944	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.95447	-3.71;-3.71;-3.71	5.38	3.61	0.41365	.	0.154989	0.29424	U	0.012187	D	0.89350	0.6690	N	0.24115	0.695	0.52501	D	0.999957	P;P	0.45715	0.865;0.788	B;B	0.42882	0.401;0.293	D	0.84020	0.0353	9	.	.	.	.	4.4853	0.11787	0.2556:0.1711:0.5733:0.0	.	661;1149	F8W883;Q9Y6X6	.;MYO16_HUMAN	I	1149;1149;661	ENSP00000349145:R1149I;ENSP00000350160:R1149I;ENSP00000401633:R661I	.	R	+	2	0	MYO16	108570792	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	2.453000	0.44970	0.607000	0.29982	0.650000	0.86243	AGA		0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
MYO16	23026	broad.mit.edu	37	13	109777577	109777577	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:109777577A>G	ENST00000357550.2	+	29	3628	c.3587A>G	c.(3586-3588)tAc>tGc	p.Y1196C	MYO16_ENST00000457511.2_Missense_Mutation_p.Y708C|MYO16_ENST00000356711.2_Missense_Mutation_p.Y1196C	NM_001198950.1	NP_001185879.1			myosin XVI									p.Y1196C(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGAAAACCTACGATGCCCTG	0.488																																					p.Y1218C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3653G	13						.						72.0	67.0	69.0					13																	109777577		2203	4300	6503	108575578	SO:0001583	missense	23026	exon30				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3587A>G	13.37:g.109777577A>G	ENSP00000350160:p.Tyr1196Cys		108575578	NM_001198950		Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254783	0.59212	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.90844	-1.64;-1.64;-2.74	5.23	5.23	0.72850	.	0.000000	0.37095	U	0.002257	D	0.94666	0.8280	M	0.76328	2.33	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94569	0.7769	9	.	.	.	.	14.4586	0.67433	1.0:0.0:0.0:0.0	.	708;1196	F8W883;Q9Y6X6	.;MYO16_HUMAN	C	1196;1196;708	ENSP00000349145:Y1196C;ENSP00000350160:Y1196C;ENSP00000401633:Y708C	.	Y	+	2	0	MYO16	108575578	1.000000	0.71417	0.913000	0.36048	0.453000	0.32348	7.964000	0.87933	2.194000	0.70268	0.533000	0.62120	TAC		0.488	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
COL4A1	1282	broad.mit.edu	37	13	110847385	110847385	+	Missense_Mutation	SNP	C	C	T	rs570739274		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:110847385C>T	ENST00000375820.4	-	22	1487	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	COL4A1_ENST00000543140.1_Missense_Mutation_p.E456K	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	456	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.E456K(1)|p.E450K(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)			TCTCCAATTTCGCCTATAAAT	0.443													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17234	0.0		0.0	False		,,,				2504	0.0				p.E456K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1366A	13						.						45.0	49.0	47.0					13																	110847385		2203	4300	6503	109645386	SO:0001583	missense	1282	exon22			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.1366G>A	13.37:g.110847385C>T	ENSP00000364979:p.Glu456Lys		109645386	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408191	0.42715	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.95205	-3.26;-3.64	5.49	5.49	0.81192	.	0.052786	0.64402	D	0.000001	D	0.94997	0.8381	L	0.42744	1.35	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.91652	0.5335	10	0.06236	T	0.91	.	16.9032	0.86118	0.0:1.0:0.0:0.0	.	456	P02462	CO4A1_HUMAN	K	450;456;456;456	ENSP00000364979:E456K;ENSP00000443348:E456K	ENSP00000364973:E450K	E	-	1	0	COL4A1	109645386	0.994000	0.37717	0.108000	0.21378	0.211000	0.24417	5.003000	0.63959	2.583000	0.87209	0.561000	0.74099	GAA		0.443	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
TEX29	121793	broad.mit.edu	37	13	111980555	111980555	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:111980555T>G	ENST00000283547.1	+	3	213	c.84T>G	c.(82-84)atT>atG	p.I28M		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	28						integral component of membrane (GO:0016021)		p.I28M(1)									TGTATGACATTTGTGACTACA	0.537																																					p.I28M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T84G	13						.						146.0	121.0	130.0					13																	111980555		2203	4300	6503	110778556	SO:0001583	missense	121793	exon3			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.84T>G	13.37:g.111980555T>G	ENSP00000283547:p.Ile28Met		110778556	NM_152324		Missense_Mutation	SNP	ENST00000283547.1	37	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507735	0.64410	.	.	ENSG00000153495	ENST00000283547	.	.	.	5.32	-4.0	0.04057	.	0.189651	0.25316	N	0.031546	T	0.29458	0.0734	L	0.32530	0.975	0.27840	N	0.941143	D	0.54964	0.969	P	0.56042	0.79	T	0.28490	-1.0042	9	0.87932	D	0	-22.4678	1.3694	0.02207	0.2338:0.3179:0.0904:0.3578	.	28	Q8N6K0	CM016_HUMAN	M	28	.	ENSP00000283547:I28M	I	+	3	3	C13orf16	110778556	0.996000	0.38824	0.951000	0.38953	0.987000	0.75469	0.057000	0.14279	-1.070000	0.03149	0.402000	0.26972	ATT		0.537	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324	
SPACA7	122258	broad.mit.edu	37	13	113086765	113086765	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113086765T>G	ENST00000283550.3	+	6	520	c.453T>G	c.(451-453)aaT>aaG	p.N151K	SPACA7_ENST00000375699.3_Missense_Mutation_p.N120K	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	151						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.N151K(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CAGAAAAGAATTCAAAGAACA	0.348																																					p.N151K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T453G	13						.						76.0	79.0	78.0					13																	113086765		2203	4300	6503	112134766	SO:0001583	missense	122258	exon6			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.453T>G	13.37:g.113086765T>G	ENSP00000283550:p.Asn151Lys		112134766	NM_145248	Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.203650	0.38905	.	.	ENSG00000153498	ENST00000283550;ENST00000375699	T;T	0.48522	0.84;0.81	3.04	-2.55	0.06288	.	.	.	.	.	T	0.19967	0.0480	N	0.14661	0.345	0.09310	N	1	B	0.33044	0.395	B	0.23574	0.047	T	0.12091	-1.0561	9	0.25751	T	0.34	-1.7748	2.4382	0.04488	0.3678:0.1996:0.0:0.4327	.	151	Q96KW9	SPAC7_HUMAN	K	151;120	ENSP00000283550:N151K;ENSP00000364851:N120K	ENSP00000283550:N151K	N	+	3	2	SPACA7	112134766	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.073000	0.03430	-0.519000	0.06444	0.533000	0.62120	AAT		0.348	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248	
TUBGCP3	10426	broad.mit.edu	37	13	113219480	113219480	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113219480C>T	ENST00000261965.3	-	3	383	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R66Q	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	66					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R66Q(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGCTTCTCTTCGTTGTCGAAT	0.363																																					p.R66Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197A	13						.						165.0	163.0	163.0					13																	113219480		2203	4300	6503	112267481	SO:0001583	missense	10426	exon3			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.197G>A	13.37:g.113219480C>T	ENSP00000261965:p.Arg66Gln		112267481	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972611	0.53614	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.22134	1.97;1.97	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	L	0.57536	1.79	0.58432	D	0.999992	P;D;B;P	0.76494	0.785;0.999;0.108;0.891	B;P;B;B	0.59703	0.255;0.862;0.036;0.172	T	0.09509	-1.0671	10	0.11794	T	0.64	-21.1653	17.687	0.88258	0.0:1.0:0.0:0.0	.	66;66;66;66	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	Q	66	ENSP00000261965:R66Q;ENSP00000364821:R66Q	ENSP00000261965:R66Q	R	-	2	0	TUBGCP3	112267481	1.000000	0.71417	0.541000	0.28102	0.671000	0.39405	6.715000	0.74697	2.263000	0.75096	0.638000	0.83543	CGA		0.363	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
ATP11A	23250	broad.mit.edu	37	13	113527934	113527934	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113527934C>T	ENST00000487903.1	+	27	3193	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	ATP11A_ENST00000375645.3_Silent_p.I1035I|ATP11A_ENST00000375630.2_Silent_p.I1035I|ATP11A_ENST00000283558.8_Silent_p.I1035I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1035					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I1035I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATTTTGTCATCTGGGGGTCGC	0.423											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.I1035I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3105T	13						.						230.0	191.0	204.0					13																	113527934		2203	4300	6503	112575935	SO:0001819	synonymous_variant	23250	exon27			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3105C>T	13.37:g.113527934C>T		1451	112575935	NM_015205	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1																																																																																				0.423	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
F10	2159	broad.mit.edu	37	13	113803327	113803327	+	Silent	SNP	C	C	T	rs148209958		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113803327C>T	ENST00000375559.3	+	8	1001	c.963C>T	c.(961-963)ttC>ttT	p.F321F	F10_ENST00000375551.3_Missense_Mutation_p.S318L|F10_ENST00000409306.1_Missense_Mutation_p.S320L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	321	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.F321F(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCTATGACTTCGACATCGCCG	0.642																																					p.F321F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963T	13						.	C		1,4405	2.1+/-5.4	0,1,2202	202.0	159.0	174.0		963	-2.6	0.2	13	dbSNP_134	174	0,8600		0,0,4300	no	coding-synonymous	F10	NM_000504.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		321/489	113803327	1,13005	2203	4300	6503	112851328	SO:0001819	synonymous_variant	2159	exon8				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.963C>T	13.37:g.113803327C>T			112851328	NM_000504	Q14340	Silent	SNP	ENST00000375559.3	37	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	9.254	1.041434	0.19669	2.27E-4	0.0	ENSG00000126218	ENST00000409306;ENST00000375551	D;D	0.96136	-3.86;-3.92	5.25	-2.57	0.06248	.	.	.	.	.	D	0.92280	0.7551	.	.	.	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.78994	-0.1984	8	0.87932	D	0	.	13.6534	0.62325	0.0:0.3075:0.0:0.6925	.	320;318	B7ZBK1;Q5JVE8	.;.	L	320;318	ENSP00000387092:S320L;ENSP00000364701:S318L	ENSP00000364701:S318L	S	+	2	0	F10	112851328	0.000000	0.05858	0.246000	0.24233	0.446000	0.32137	-0.944000	0.03913	-0.888000	0.03956	0.563000	0.77884	TCG		0.642	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		
PCID2	55795	broad.mit.edu	37	13	113835492	113835492	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113835492C>A	ENST00000337344.4	-	10	814	c.738G>T	c.(736-738)aaG>aaT	p.K246N	PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_Missense_Mutation_p.K244N|PCID2_ENST00000375479.2_Missense_Mutation_p.K246N|PCID2_ENST00000375477.1_Missense_Mutation_p.K246N|PCID2_ENST00000246505.5_Missense_Mutation_p.K300N|PCID2_ENST00000375457.2_Missense_Mutation_p.K244N	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	246					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.K300N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TCCTTTTGTTCTTCTGACTAG	0.433																																					p.K246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G738T	13						.						146.0	126.0	133.0					13																	113835492		2203	4300	6503	112883493	SO:0001583	missense	55795	exon10			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.738G>T	13.37:g.113835492C>A	ENSP00000337405:p.Lys246Asn		112883493	NM_018386	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165830	0.38217	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.25	4.28	0.50868	PCI/PINT associated module (1);	0.051288	0.85682	D	0.000000	T	0.50051	0.1593	M	0.62088	1.915	0.52501	D	0.999954	B;B	0.23058	0.079;0.003	B;B	0.25405	0.06;0.017	T	0.51301	-0.8723	9	0.37606	T	0.19	-25.154	5.9745	0.19371	0.0:0.6834:0.0:0.3166	.	300;246	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	N	246;246;246;300;244;244;223;246;223	.	ENSP00000246505:K300N	K	-	3	2	PCID2	112883493	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.481000	0.45215	2.445000	0.82738	0.563000	0.77884	AAG		0.433	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	
CUL4A	8451	broad.mit.edu	37	13	113897299	113897299	+	Silent	SNP	C	C	T	rs146783617	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113897299C>T	ENST00000375440.4	+	11	1137	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CUL4A_ENST00000375441.3_Silent_p.I251I|CUL4A_ENST00000451881.1_Silent_p.I251I|CUL4A_ENST00000326335.4_Silent_p.I251I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	351					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)		p.I251I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GAACAGCGATCGTAATCAATC	0.418													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17539	0.0		0.0	False		,,,				2504	0.0				p.I351I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	13						.	C	,	5,4401	8.1+/-20.4	0,5,2198	152.0	127.0	136.0		1053,753	-0.9	1.0	13	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CUL4A	NM_001008895.1,NM_003589.2	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	351/760,251/660	113897299	5,13001	2203	4300	6503	112945300	SO:0001819	synonymous_variant	8451	exon11			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1053C>T	13.37:g.113897299C>T			112945300	NM_001008895	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	ENST00000375440.4	37	CCDS41908.1																																																																																				0.418	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3	NM_003589	
LAMP1	3916	broad.mit.edu	37	13	113974716	113974716	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113974716C>T	ENST00000332556.4	+	6	1001	c.807C>T	c.(805-807)tgC>tgT	p.C269C	LAMP1_ENST00000397181.3_Silent_p.C216C	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	269	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.C269C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGGGAGCTGCGGCGCCCACC	0.632																																					p.C269C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	13						.						111.0	115.0	114.0					13																	113974716		2068	4217	6285	113022717	SO:0001819	synonymous_variant	3916	exon6			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.807C>T	13.37:g.113974716C>T			113022717	NM_005561	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	CCDS41909.1																																																																																				0.632	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2		
LAMP1	3916	broad.mit.edu	37	13	113975969	113975969	+	Silent	SNP	G	G	A	rs376013627		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:113975969G>A	ENST00000332556.4	+	8	1235	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	LAMP1_ENST00000397181.3_Silent_p.T294T	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	347	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)	p.T347T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TCCGTGTCACGAAGGCGTTTT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17366	0.0		0.0	False		,,,				2504	0.0				p.T347T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1041A	13						.	G		1,4217		0,1,2108	106.0	116.0	112.0		1041	-10.5	0.0	13		112	1,8405		0,1,4202	no	coding-synonymous	LAMP1	NM_005561.3		0,2,6310	AA,AG,GG		0.0119,0.0237,0.0158		347/418	113975969	2,12622	2109	4203	6312	113023970	SO:0001819	synonymous_variant	3916	exon8			J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.1041G>A	13.37:g.113975969G>A			113023970	NM_005561	B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	CCDS41909.1																																																																																				0.577	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2		
ATP4B	496	broad.mit.edu	37	13	114307233	114307233	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:114307233G>A	ENST00000335288.4	-	4	551	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	170					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.F170F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			CTTCAAAGCCGAAGTTGGGAT	0.512																																					p.F170F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C510T	13						.						78.0	76.0	77.0					13																	114307233		2203	4300	6503	113355234	SO:0001819	synonymous_variant	496	exon4				CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.510C>T	13.37:g.114307233G>A			113355234	NM_000705	B1B0N8	Silent	SNP	ENST00000335288.4	37	CCDS9539.1																																																																																				0.512	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705	
RASA3	22821	broad.mit.edu	37	13	114789762	114789762	+	Missense_Mutation	SNP	C	C	T	rs370747207		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:114789762C>T	ENST00000334062.7	-	8	794	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	RASA3_ENST00000389544.4_Missense_Mutation_p.E193K|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	225	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.E225K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CACCTGATTTCGAGCTTGTCC	0.498																																					p.E225K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	13						.	C	LYS/GLU	0,4406		0,0,2203	261.0	284.0	276.0		673	5.4	0.9	13		276	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASA3	NM_007368.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	225/835	114789762	1,13005	2203	4300	6503	113807864	SO:0001583	missense	22821	exon8				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.673G>A	13.37:g.114789762C>T	ENSP00000335029:p.Glu225Lys		113807864	NM_007368	A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677331	0.47886	0.0	1.16E-4	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.86694	-2.06;-2.16	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.768732	0.12442	N	0.468638	D	0.87059	0.6083	L	0.38175	1.15	0.80722	D	1	P	0.49635	0.926	P	0.49421	0.61	D	0.84536	0.0636	9	.	.	.	.	17.9483	0.89045	0.0:1.0:0.0:0.0	.	225	Q14644	RASA3_HUMAN	K	225;193	ENSP00000335029:E225K;ENSP00000374195:E193K	.	E	-	1	0	RASA3	113807864	1.000000	0.71417	0.907000	0.35723	0.001000	0.01503	4.503000	0.60407	2.513000	0.84729	0.655000	0.94253	GAA		0.498	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
CDC16	8881	broad.mit.edu	37	13	115024835	115024835	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:115024835C>A	ENST00000356221.3	+	14	1384	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I	CDC16_ENST00000375310.1_Missense_Mutation_p.L332I|CDC16_ENST00000375312.3_Missense_Mutation_p.L281I|CDC16_ENST00000252458.6_Missense_Mutation_p.L281I|CDC16_ENST00000375308.1_Missense_Mutation_p.L332I|CDC16_ENST00000360383.3_Missense_Mutation_p.L426I|CDC16_ENST00000252457.5_Missense_Mutation_p.L425I			Q13042	CDC16_HUMAN	cell division cycle 16	426					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.L425I(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAAATGGTTTCTTGATGCTTT	0.299																																					p.L426I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276A	13						.						86.0	94.0	91.0					13																	115024835		2203	4299	6502	114042937	SO:0001583	missense	8881	exon14			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1276C>A	13.37:g.115024835C>A	ENSP00000348554:p.Leu426Ile		114042937	NM_001078645	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975715	0.53720	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T;T;T	0.73681	0.59;-0.77;0.59;0.59;0.59;0.59;-0.77	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	L	0.60455	1.87	0.80722	D	1	P;P;P	0.45768	0.866;0.606;0.471	P;P;B	0.48400	0.576;0.529;0.329	T	0.74711	-0.3573	9	.	.	.	-17.3394	12.5606	0.56279	0.0:0.9229:0.0:0.0771	.	374;425;426	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	I	426;281;426;332;425;332;281	ENSP00000353549:L426I;ENSP00000364461:L281I;ENSP00000348554:L426I;ENSP00000364459:L332I;ENSP00000252457:L425I;ENSP00000364457:L332I;ENSP00000252458:L281I	.	L	+	1	0	CDC16	114042937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.095000	0.64529	2.713000	0.92767	0.655000	0.94253	CTT		0.299	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
CHAMP1	283489	broad.mit.edu	37	13	115089339	115089339	+	Missense_Mutation	SNP	C	C	T	rs371511810		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:115089339C>T	ENST00000361283.1	+	3	331	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	8					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R8C(1)									CCAGGAACTTCGTAAACCATC	0.378																																					p.R8C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22T	13						.	C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	119.0	121.0		22,22,22	5.0	0.0	13		121	0,8600		0,0,4300	no	missense,missense,missense	ZNF828	NM_001164144.1,NM_001164145.1,NM_032436.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	8/813,8/813,8/813	115089339	1,13005	2203	4300	6503	114107441	SO:0001583	missense	283489	exon3			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.22C>T	13.37:g.115089339C>T	ENSP00000354730:p.Arg8Cys		114107441	NM_001164145	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321379	0.60634	2.27E-4	0.0	ENSG00000198824	ENST00000361283	T	0.01584	4.75	5.83	4.98	0.66077	.	0.387956	0.22343	N	0.061305	T	0.03220	0.0094	L	0.32530	0.975	0.09310	N	0.999998	D	0.64830	0.994	P	0.50049	0.629	T	0.49072	-0.8977	9	.	.	.	-2.2058	14.1691	0.65497	0.2712:0.7288:0.0:0.0	.	8	Q96JM3	ZN828_HUMAN	C	8	ENSP00000354730:R8C	.	R	+	1	0	ZNF828	114107441	0.016000	0.18221	0.004000	0.12327	0.979000	0.70002	2.277000	0.43417	1.453000	0.47775	0.655000	0.94253	CGT		0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
TPTE2	93492	broad.mit.edu	37	13	20025334	20025334	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20025334C>T	ENST00000400230.2	-	11	817	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE2_ENST00000457266.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R218Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R258Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R181Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R181Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R218Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	258	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R181Q(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTGGTTTCGATGTTTCTT	0.363																																					p.R147Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G440A	13						.						131.0	116.0	121.0					13																	20025334		2203	4299	6502	18923334	SO:0001583	missense	93492	exon10			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.773G>A	13.37:g.20025334C>T	ENSP00000383089:p.Arg258Gln		18923334	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	0.190	-1.054100	0.01965	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	2.63	-3.6	0.04570	Phosphatase tensin type (1);	0.996918	0.08131	N	0.993126	T	0.11067	0.0270	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.14023	0.01;0.006;0.01	T	0.33777	-0.9855	9	.	.	.	-0.2719	6.4557	0.21928	0.0:0.4108:0.3389:0.2504	.	147;181;258	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	218;147;258;181;181;258;218;147;258;127	ENSP00000372438:R218Q;ENSP00000382974:R147Q;ENSP00000383089:R258Q;ENSP00000255310:R181Q;ENSP00000375098:R181Q;ENSP00000372437:R258Q;ENSP00000372435:R218Q;ENSP00000442218:R147Q	.	R	-	2	0	TPTE2	18923334	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-2.361000	0.01083	-0.977000	0.03537	-1.247000	0.01520	CGA		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
PSPC1	55269	broad.mit.edu	37	13	20333550	20333550	+	Missense_Mutation	SNP	C	C	T	rs370840309		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20333550C>T	ENST00000338910.4	-	3	842	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	228	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R228H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AATGACTGGACGAGGGGTCCT	0.338																																					p.R228H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	13						.	C	HIS/ARG	0,3716		0,0,1858	91.0	85.0	87.0		683	5.5	1.0	13		87	1,8225		0,1,4112	no	missense	PSPC1	NM_001042414.2	29	0,1,5970	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	228/524	20333550	1,11941	1858	4113	5971	19231550	SO:0001583	missense	55269	exon3			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.683G>A	13.37:g.20333550C>T	ENSP00000343966:p.Arg228His		19231550	NM_001042414	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117425	0.77323	0.0	1.22E-4	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.19938	2.11;2.39	5.48	5.48	0.80851	RNA recognition motif domain (2);	0.056960	0.64402	D	0.000001	T	0.23727	0.0574	L	0.49778	1.585	0.80722	D	1	B	0.31859	0.343	B	0.24701	0.055	T	0.03483	-1.1032	10	0.87932	D	0	-11.6278	19.3434	0.94355	0.0:1.0:0.0:0.0	.	228	Q8WXF1	PSPC1_HUMAN	H	228;168;228	ENSP00000343966:R228H;ENSP00000393069:R228H	ENSP00000343966:R228H	R	-	2	0	PSPC1	19231550	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.818000	0.86416	2.580000	0.87095	0.557000	0.71058	CGT		0.338	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		
PSPC1	55269	broad.mit.edu	37	13	20346427	20346427	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20346427C>T	ENST00000338910.4	-	2	788	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	210	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R210Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CAGAGCCTTTCGTGCAGGAGG	0.438																																					p.R210Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G629A	13						.						105.0	96.0	99.0					13																	20346427		1919	4142	6061	19244427	SO:0001583	missense	55269	exon2			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.629G>A	13.37:g.20346427C>T	ENSP00000343966:p.Arg210Gln		19244427	NM_001042414	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996105	0.74703	.	.	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.15487	2.42;2.42	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	N	0.02011	-0.69	0.80722	D	1	B	0.26744	0.158	B	0.18561	0.022	T	0.41124	-0.9526	10	0.16896	T	0.51	-14.2049	20.2405	0.98372	0.0:1.0:0.0:0.0	.	210	Q8WXF1	PSPC1_HUMAN	Q	210;150;210	ENSP00000343966:R210Q;ENSP00000393069:R210Q	ENSP00000343966:R210Q	R	-	2	0	PSPC1	19244427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.756000	0.85195	2.797000	0.96272	0.561000	0.74099	CGA		0.438	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		
ZMYM5	9205	broad.mit.edu	37	13	20399217	20399217	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20399217C>A	ENST00000337963.4	-	8	1674	c.1410G>T	c.(1408-1410)caG>caT	p.Q470H		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	470						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q470H(1)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ctactgaaagctgtagctgtg	0.363																																					p.Q470H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1410T	13						.						88.0	77.0	81.0					13																	20399217		1568	3582	5150	19297217	SO:0001583	missense	9205	exon8			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1410G>T	13.37:g.20399217C>A	ENSP00000337034:p.Gln470His		19297217	NM_001142684	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238622	0.01493	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.18016	2.24;2.24	2.62	-1.57	0.08506	.	0.197095	0.43416	N	0.000566	T	0.12518	0.0304	L	0.44542	1.39	0.09310	N	1	P	0.40144	0.704	B	0.41571	0.36	T	0.13872	-1.0493	10	0.42905	T	0.14	.	4.5528	0.12123	0.0:0.454:0.1729:0.3731	.	470	Q9UJ78	ZMYM5_HUMAN	H	470;460	ENSP00000337034:Q470H;ENSP00000445779:Q460H	ENSP00000337034:Q470H	Q	-	3	2	ZMYM5	19297217	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.923000	0.04000	-0.916000	0.03818	-2.270000	0.00275	CAG		0.363	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
ZMYM5	9205	broad.mit.edu	37	13	20412858	20412858	+	Missense_Mutation	SNP	C	C	T	rs114493699		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20412858C>T	ENST00000337963.4	-	5	1118	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R285Q	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	285						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R285Q(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATTATGCTTCGTGTGTTTTG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19863	0.001		0.0	False		,,,				2504	0.0				p.R285Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G854A	13						.						156.0	144.0	148.0					13																	20412858		2203	4300	6503	19310858	SO:0001583	missense	9205	exon5			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.854G>A	13.37:g.20412858C>T	ENSP00000337034:p.Arg285Gln		19310858	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.486	0.861004	0.17178	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.22743	2.27;2.27;1.94	4.68	-0.87	0.10646	.	0.460476	0.24443	N	0.038492	T	0.09862	0.0242	N	0.25485	0.75	0.25346	N	0.988904	B;B	0.13145	0.002;0.007	B;B	0.10450	0.002;0.005	T	0.30679	-0.9970	10	0.14252	T	0.57	-0.0124	4.4145	0.11450	0.249:0.3746:0.0:0.3764	.	285;285	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	Q	285;275;285	ENSP00000337034:R285Q;ENSP00000445779:R275Q;ENSP00000372361:R285Q	ENSP00000337034:R285Q	R	-	2	0	ZMYM5	19310858	1.000000	0.71417	0.060000	0.19600	0.612000	0.37316	1.086000	0.30853	-0.022000	0.13986	-1.069000	0.02264	CGA		0.383	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
ZMYM5	9205	broad.mit.edu	37	13	20412933	20412933	+	Missense_Mutation	SNP	C	C	T	rs143728763		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20412933C>T	ENST00000337963.4	-	5	1043	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R260Q	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	260						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R260Q(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TGATCCTTTTCGTTGATAAGC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.001		0.0	False		,,,				2504	0.0				p.R260Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G779A	13						.						254.0	233.0	240.0					13																	20412933		2203	4300	6503	19310933	SO:0001583	missense	9205	exon5			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.779G>A	13.37:g.20412933C>T	ENSP00000337034:p.Arg260Gln		19310933	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.8	4.862248	0.91511	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.53857	0.6;0.6;0.6	4.67	3.83	0.44106	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.71036	2.16	0.52099	D	0.999949	D;P	0.89917	1.0;0.931	D;B	0.85130	0.997;0.23	T	0.73646	-0.3917	10	0.72032	D	0.01	-8.2739	13.043	0.58910	0.0:0.922:0.0:0.078	.	260;260	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	Q	260;250;260	ENSP00000337034:R260Q;ENSP00000445779:R250Q;ENSP00000372361:R260Q	ENSP00000337034:R260Q	R	-	2	0	ZMYM5	19310933	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.571000	0.67404	1.329000	0.45376	0.555000	0.69702	CGA		0.398	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
GJB6	10804	broad.mit.edu	37	13	20797482	20797482	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:20797482G>A	ENST00000356192.6	-	5	758	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GJB6_ENST00000241124.6_Silent_p.D46D|GJB6_ENST00000400066.3_Silent_p.D46D|GJB6_ENST00000400065.3_Silent_p.D46D	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	46					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)		p.D46D(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CCTCTTGCTCGTCACCCCACA	0.542																																					p.D46D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	13						.						119.0	97.0	105.0					13																	20797482		2203	4300	6503	19695482	SO:0001819	synonymous_variant	10804	exon3			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.138C>T	13.37:g.20797482G>A			19695482	NM_006783	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	ENST00000356192.6	37	CCDS9291.1																																																																																				0.542	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272906.1		
IFT88	8100	broad.mit.edu	37	13	21265282	21265282	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21265282G>T	ENST00000319980.6	+	28	2797	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	IFT88_ENST00000351808.5_Nonsense_Mutation_p.E815*|IFT88_ENST00000382778.4_3'UTR|IFT88_ENST00000537103.1_Nonsense_Mutation_p.E796*	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	824					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.E824*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTTTGCTGATGAAGAATTAGG	0.378																																					p.E824X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2470T	13						.						81.0	84.0	83.0					13																	21265282		2203	4300	6503	20163282	SO:0001587	stop_gained	8100	exon28			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2470G>T	13.37:g.21265282G>T	ENSP00000323580:p.Glu824*		20163282	NM_175605	A2A491|B4DUS2|Q5SZJ6|Q8N719	Nonsense_Mutation	SNP	ENST00000319980.6	37	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	G	41	8.995534	0.99029	.	.	ENSG00000032742	ENST00000351808;ENST00000319980;ENST00000537103	.	.	.	5.56	5.56	0.83823	.	0.104567	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-28.0999	19.1155	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	X	815;824;796	.	ENSP00000323580:E824X	E	+	1	0	IFT88	20163282	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.949000	0.93012	2.598000	0.87819	0.655000	0.94253	GAA		0.378	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	
XPO4	64328	broad.mit.edu	37	13	21381614	21381614	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21381614C>T	ENST00000255305.6	-	13	1870	c.1799G>A	c.(1798-1800)aGa>aAa	p.R600K	XPO4_ENST00000400602.2_Missense_Mutation_p.R600K			Q9C0E2	XPO4_HUMAN	exportin 4	600					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R573K(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGAATCTGTTCTGTTGTACCC	0.353																																					p.R600K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1799A	13						.						118.0	107.0	111.0					13																	21381614		1823	4079	5902	20279614	SO:0001583	missense	64328	exon13			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1799G>A	13.37:g.21381614C>T	ENSP00000255305:p.Arg600Lys		20279614	NM_022459	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527172	0.27299	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.51071	0.72;0.72	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	N	0.14661	0.345	0.58432	D	0.999994	B	0.22746	0.074	B	0.22601	0.04	T	0.20240	-1.0281	10	0.05959	T	0.93	-10.14	19.9173	0.97066	0.0:1.0:0.0:0.0	.	600	Q9C0E2	XPO4_HUMAN	K	600;470;600	ENSP00000383444:R600K;ENSP00000255305:R600K	ENSP00000255305:R600K	R	-	2	0	XPO4	20279614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.707000	0.92482	0.563000	0.77884	AGA		0.353	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459	
LATS2	26524	broad.mit.edu	37	13	21562238	21562238	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21562238C>T	ENST00000382592.4	-	4	2086	c.1681G>A	c.(1681-1683)Gcc>Acc	p.A561T	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.A561T	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.A561T(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)		TCCCCCTTGGCGCTTTTGCGG	0.607																																					p.A561T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1681A	13						.						143.0	141.0	142.0					13																	21562238		2203	4300	6503	20460238	SO:0001583	missense	26524	exon4			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.1681G>A	13.37:g.21562238C>T	ENSP00000372035:p.Ala561Thr		20460238	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	c	5.761	0.324720	0.10900	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59083	0.29;0.29	5.12	-4.0	0.04057	.	0.806598	0.11396	N	0.568284	T	0.25754	0.0627	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.17137	-1.0379	10	0.16420	T	0.52	.	3.264	0.06859	0.2146:0.1472:0.098:0.5402	.	561	Q9NRM7	LATS2_HUMAN	T	561	ENSP00000372035:A561T;ENSP00000441817:A561T	ENSP00000372035:A561T	A	-	1	0	LATS2	20460238	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.791000	0.04599	-0.675000	0.05246	-0.233000	0.12211	GCC		0.607	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
LATS2	26524	broad.mit.edu	37	13	21620068	21620068	+	Missense_Mutation	SNP	G	G	A	rs139154828		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21620068G>A	ENST00000382592.4	-	2	503	c.98C>T	c.(97-99)tCg>tTg	p.S33L	LATS2_ENST00000542899.1_Missense_Mutation_p.S33L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.S33L(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)		CCCCTGAACCGAAGACTTGGA	0.542																																					p.S33L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C98T	13						.	G	LEU/SER	0,4406		0,0,2203	107.0	102.0	104.0		98	3.9	0.0	13	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	LATS2	NM_014572.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	33/1089	21620068	1,13005	2203	4300	6503	20518068	SO:0001583	missense	26524	exon2			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.98C>T	13.37:g.21620068G>A	ENSP00000372035:p.Ser33Leu		20518068	NM_014572		Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157409	0.21454	0.0	1.16E-4	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.36520	1.25;1.25	5.66	3.9	0.45041	.	0.517239	0.19226	N	0.119536	T	0.32466	0.0830	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.29761	-1.0001	10	0.66056	D	0.02	.	8.3095	0.32062	0.1399:0.13:0.73:0.0	.	33	Q9NRM7	LATS2_HUMAN	L	33	ENSP00000372035:S33L;ENSP00000441817:S33L	ENSP00000372035:S33L	S	-	2	0	LATS2	20518068	0.536000	0.26378	0.000000	0.03702	0.042000	0.13812	2.909000	0.48758	0.722000	0.32252	0.655000	0.94253	TCG		0.542	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
SKA3	221150	broad.mit.edu	37	13	21742259	21742259	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21742259G>T	ENST00000314759.5	-	4	735	c.611C>A	c.(610-612)cCa>cAa	p.P204Q	SKA3_ENST00000400018.3_Missense_Mutation_p.P204Q	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	204					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)		p.P204Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCACATTTTGGAGTTTTTAG	0.358																																					p.P204Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	13						.						185.0	201.0	196.0					13																	21742259		2203	4300	6503	20640259	SO:0001583	missense	221150	exon4			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.611C>A	13.37:g.21742259G>T	ENSP00000319417:p.Pro204Gln		20640259	NM_001166017	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624860	0.66901	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.69561	-0.41;-0.41	5.88	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.68952	2.095	0.42298	D	0.992163	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.81382	-0.0958	10	0.87932	D	0	-15.4198	12.1607	0.54103	0.0795:0.0:0.9205:0.0	.	204;204	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	Q	204	ENSP00000319417:P204Q;ENSP00000382896:P204Q	ENSP00000319417:P204Q	P	-	2	0	SKA3	20640259	1.000000	0.71417	0.139000	0.22197	0.862000	0.49288	5.574000	0.67424	1.491000	0.48482	0.655000	0.94253	CCA		0.358	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061	
ZDHHC20	253832	broad.mit.edu	37	13	21955619	21955619	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21955619T>G	ENST00000400590.3	-	11	1212	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D	ZDHHC20_ENST00000415724.1_Missense_Mutation_p.E338D|ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.E275D|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.E337D			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	338					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.E338D(1)|p.E337D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GCCACTGAGATTCACTGTCCA	0.398																																					p.E337D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1011C	13						.						79.0	76.0	77.0					13																	21955619		1878	4113	5991	20853619	SO:0001583	missense	253832	exon11			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.1014A>C	13.37:g.21955619T>G	ENSP00000383433:p.Glu338Asp		20853619	NM_153251	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37		.	.	.	.	.	.	.	.	.	.	T	11.72	1.721750	0.30503	.	.	ENSG00000180776	ENST00000400590;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T	0.52754	0.91;0.92;0.65;0.91	5.65	-8.35	0.00984	.	0.795430	0.12307	N	0.480573	T	0.18130	0.0435	N	0.13352	0.335	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.09552	-1.0669	10	0.21540	T	0.41	-0.3633	2.0911	0.03657	0.174:0.2396:0.3593:0.2271	.	275;337	B4DRN8;Q5W0Z9-3	.;.	D	338;337;275;338	ENSP00000383433:E338D;ENSP00000371905:E337D;ENSP00000443236:E275D;ENSP00000401232:E338D	ENSP00000371905:E337D	E	-	3	2	ZDHHC20	20853619	0.698000	0.27777	0.892000	0.35008	0.995000	0.86356	-0.519000	0.06260	-1.100000	0.03030	-0.313000	0.08912	GAA		0.398	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251	
ZDHHC20	253832	broad.mit.edu	37	13	21974523	21974523	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:21974523T>G	ENST00000400590.3	-	7	781	c.583A>C	c.(583-585)Aaa>Caa	p.K195Q	ZDHHC20_ENST00000415724.1_Missense_Mutation_p.K195Q|ZDHHC20_ENST00000320220.9_Missense_Mutation_p.K195Q|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.K132Q|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.K195Q			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	195					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K195Q(2)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GTCCAAAATTTTATAAAGTAC	0.289																																					p.K195Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A583C	13						.						23.0	22.0	22.0					13																	21974523		1792	4049	5841	20872523	SO:0001583	missense	253832	exon7			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.583A>C	13.37:g.21974523T>G	ENSP00000383433:p.Lys195Gln		20872523	NM_153251	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	ENST00000400590.3	37		.	.	.	.	.	.	.	.	.	.	T	16.23	3.063975	0.55432	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.74	5.74	0.90152	.	0.204842	0.52532	D	0.000063	T	0.23572	0.0570	L	0.35288	1.05	0.80722	D	1	B;B	0.21688	0.059;0.021	B;B	0.28465	0.038;0.09	T	0.04268	-1.0964	10	0.25106	T	0.35	-11.3104	16.042	0.80691	0.0:0.0:0.0:1.0	.	132;195	B4DRN8;Q5W0Z9-3	.;.	Q	195;195;195;132;195	ENSP00000383433:K195Q;ENSP00000313583:K195Q;ENSP00000371905:K195Q;ENSP00000443236:K132Q;ENSP00000401232:K195Q	ENSP00000313583:K195Q	K	-	1	0	ZDHHC20	20872523	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.586000	0.82596	2.188000	0.69820	0.459000	0.35465	AAA		0.289	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251	
SGCG	6445	broad.mit.edu	37	13	23777840	23777840	+	Missense_Mutation	SNP	C	C	T	rs140310896		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23777840C>T	ENST00000218867.3	+	2	131	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	SGCG_ENST00000537476.1_Missense_Mutation_p.R3C|SGCG_ENST00000545013.1_Missense_Mutation_p.R3C	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	3					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.R3C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCAGATGGTGCGTGAGCAGTA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		16327	0.0		0.001	False		,,,				2504	0.0				p.R3C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7T	13						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	102.0	110.0		7	1.7	0.0	13	dbSNP_134	110	0,8598		0,0,4299	no	missense	SGCG	NM_000231.2	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	3/292	23777840	1,13003	2203	4299	6502	22675840	SO:0001583	missense	6445	exon2			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.7C>T	13.37:g.23777840C>T	ENSP00000218867:p.Arg3Cys		22675840	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.952	0.745062	0.15710	2.27E-4	0.0	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.88354	-2.37;-2.37;-2.37	5.46	1.66	0.24008	.	0.212558	0.49916	N	0.000125	T	0.80476	0.4630	L	0.34521	1.04	0.29964	N	0.819134	B	0.20164	0.042	B	0.14023	0.01	T	0.71593	-0.4546	10	0.62326	D	0.03	-0.0501	6.8499	0.24008	0.1226:0.5756:0.2367:0.0651	.	3	Q13326	SGCG_HUMAN	C	3	ENSP00000218867:R3C;ENSP00000444100:R3C;ENSP00000442232:R3C	ENSP00000218867:R3C	R	+	1	0	SGCG	22675840	0.994000	0.37717	0.001000	0.08648	0.068000	0.16541	3.416000	0.52707	-0.005000	0.14395	-0.175000	0.13238	CGT		0.473	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
SGCG	6445	broad.mit.edu	37	13	23808842	23808842	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23808842C>A	ENST00000218867.3	+	3	412	c.288C>A	c.(286-288)caC>caA	p.H96Q	SGCG_ENST00000537476.1_Missense_Mutation_p.H96Q|SGCG_ENST00000545013.1_Missense_Mutation_p.H96Q	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	96					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.H96Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AAGAAATACACTCCAGAGTGG	0.338																																					p.H96Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C288A	13						.						105.0	109.0	107.0					13																	23808842		2203	4300	6503	22706842	SO:0001583	missense	6445	exon3			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.288C>A	13.37:g.23808842C>A	ENSP00000218867:p.His96Gln		22706842	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695662	0.30052	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94457	-3.43;-3.43;-3.43	5.55	5.55	0.83447	.	0.181977	0.64402	D	0.000015	D	0.91036	0.7180	L	0.39245	1.2	0.44275	D	0.997139	P	0.36354	0.549	B	0.37650	0.255	D	0.88915	0.3362	10	0.09084	T	0.74	1.2825	17.0082	0.86399	0.0:1.0:0.0:0.0	.	96	Q13326	SGCG_HUMAN	Q	96	ENSP00000218867:H96Q;ENSP00000444100:H96Q;ENSP00000442232:H96Q	ENSP00000218867:H96Q	H	+	3	2	SGCG	22706842	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.580000	0.23803	2.613000	0.88420	0.585000	0.79938	CAC		0.338	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
SGCG	6445	broad.mit.edu	37	13	23894856	23894856	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23894856C>T	ENST00000218867.3	+	7	783	c.659C>T	c.(658-660)gCg>gTg	p.A220V	SGCG_ENST00000537476.1_Missense_Mutation_p.A220V|SGCG_ENST00000545013.1_Missense_Mutation_p.A220V	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	220					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.A220V(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AAAATTGAGGCGCTTTCTCAA	0.448																																					p.A220V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C659T	13						.						94.0	94.0	94.0					13																	23894856		2203	4300	6503	22792856	SO:0001583	missense	6445	exon7			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.659C>T	13.37:g.23894856C>T	ENSP00000218867:p.Ala220Val		22792856	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	7.835	0.720641	0.15372	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94092	-3.35;-3.35;-3.35	5.62	2.95	0.34219	.	0.359451	0.32401	N	0.006155	D	0.85767	0.5773	L	0.35723	1.085	0.32340	N	0.559927	B	0.16802	0.019	B	0.16722	0.016	T	0.75536	-0.3283	10	0.09843	T	0.71	-11.4823	5.7878	0.18343	0.0:0.5251:0.2669:0.208	.	220	Q13326	SGCG_HUMAN	V	220	ENSP00000218867:A220V;ENSP00000444100:A220V;ENSP00000442232:A220V	ENSP00000218867:A220V	A	+	2	0	SGCG	22792856	0.071000	0.21146	0.994000	0.49952	0.001000	0.01503	0.217000	0.17603	0.743000	0.32719	-0.822000	0.03109	GCG		0.448	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
SACS	26278	broad.mit.edu	37	13	23905110	23905110	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23905110G>T	ENST00000382292.3	-	9	13178	c.12905C>A	c.(12904-12906)tCt>tAt	p.S4302Y	SACS_ENST00000402364.1_Missense_Mutation_p.S3552Y|SACS_ENST00000382298.3_Missense_Mutation_p.S4302Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4302					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S4155Y(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCTGGTAAAGAATTAACCTT	0.428																																					p.S4302Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12905A	13						.						90.0	100.0	96.0					13																	23905110		2202	4300	6502	22803110	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12905C>A	13.37:g.23905110G>T	ENSP00000371729:p.Ser4302Tyr		22803110	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017201	0.54576	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88741	-2.27;-2.42;-2.27	5.83	4.98	0.66077	Heat shock protein DnaJ, N-terminal (2);	0.227144	0.47852	D	0.000214	D	0.85457	0.5701	L	0.39898	1.24	0.30394	N	0.780724	B	0.31009	0.303	B	0.33890	0.172	D	0.85296	0.1070	10	0.87932	D	0	.	14.3544	0.66727	0.0707:0.0:0.9293:0.0	.	4302	Q9NZJ4	SACS_HUMAN	Y	4302;3552;4302	ENSP00000371729:S4302Y;ENSP00000385844:S3552Y;ENSP00000371735:S4302Y	ENSP00000371729:S4302Y	S	-	2	0	SACS	22803110	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	8.017000	0.88712	2.746000	0.94184	0.563000	0.77884	TCT		0.428	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23905348	23905348	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23905348T>G	ENST00000382292.3	-	9	12940	c.12667A>C	c.(12667-12669)Aag>Cag	p.K4223Q	SACS_ENST00000402364.1_Missense_Mutation_p.K3473Q|SACS_ENST00000382298.3_Missense_Mutation_p.K4223Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4223					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K4076Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGATATATCTTTCCTAGAAAA	0.343																																					p.K4223Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12667C	13						.						44.0	48.0	47.0					13																	23905348		2203	4299	6502	22803348	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12667A>C	13.37:g.23905348T>G	ENSP00000371729:p.Lys4223Gln		22803348	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519179	0.64634	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88664	-2.26;-2.41;-2.26	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90184	0.6932	L	0.33485	1.01	0.50813	D	0.999896	D	0.71674	0.998	P	0.61874	0.895	D	0.90186	0.4246	10	0.42905	T	0.14	.	15.4983	0.75673	0.0:0.0:0.0:1.0	.	4223	Q9NZJ4	SACS_HUMAN	Q	4223;3473;4223	ENSP00000371729:K4223Q;ENSP00000385844:K3473Q;ENSP00000371735:K4223Q	ENSP00000371729:K4223Q	K	-	1	0	SACS	22803348	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	8.036000	0.88901	2.049000	0.60858	0.460000	0.39030	AAG		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23907021	23907021	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23907021C>A	ENST00000382292.3	-	9	11267	c.10994G>T	c.(10993-10995)aGa>aTa	p.R3665I	SACS_ENST00000402364.1_Missense_Mutation_p.R2915I|SACS_ENST00000382298.3_Missense_Mutation_p.R3665I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3665					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R3518I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGATGAAATCTAATGAATTC	0.373																																					p.R3665I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10994T	13						.						64.0	68.0	66.0					13																	23907021		2203	4299	6502	22805021	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10994G>T	13.37:g.23907021C>A	ENSP00000371729:p.Arg3665Ile		22805021	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557372	0.86231	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87729	-2.14;-2.29;-2.14	5.95	5.95	0.96441	.	0.050119	0.64402	D	0.000001	D	0.85102	0.5620	N	0.24115	0.695	0.44685	D	0.997672	P	0.49961	0.93	P	0.48030	0.564	D	0.85764	0.1351	10	0.52906	T	0.07	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	3665	Q9NZJ4	SACS_HUMAN	I	3665;2915;3665	ENSP00000371729:R3665I;ENSP00000385844:R2915I;ENSP00000371735:R3665I	ENSP00000371729:R3665I	R	-	2	0	SACS	22805021	0.296000	0.24398	0.817000	0.32601	0.843000	0.47879	3.253000	0.51469	2.817000	0.96982	0.563000	0.77884	AGA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23907090	23907090	+	Missense_Mutation	SNP	C	C	A	rs148349355		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23907090C>A	ENST00000382292.3	-	9	11198	c.10925G>T	c.(10924-10926)gGa>gTa	p.G3642V	SACS_ENST00000402364.1_Missense_Mutation_p.G2892V|SACS_ENST00000382298.3_Missense_Mutation_p.G3642V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3642					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G3495V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGAAAATTTCCAGATAACAA	0.373																																					p.G3642V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10925T	13						.						38.0	43.0	42.0					13																	23907090		2203	4298	6501	22805090	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10925G>T	13.37:g.23907090C>A	ENSP00000371729:p.Gly3642Val		22805090	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768476	0.69878	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.13;-2.28;-2.13	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90435	0.7005	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89228	0.3575	10	0.41790	T	0.15	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	3642	Q9NZJ4	SACS_HUMAN	V	3642;2892;3642	ENSP00000371729:G3642V;ENSP00000385844:G2892V;ENSP00000371735:G3642V	ENSP00000371729:G3642V	G	-	2	0	SACS	22805090	1.000000	0.71417	0.946000	0.38457	0.720000	0.41350	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23907566	23907566	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23907566T>G	ENST00000382292.3	-	9	10722	c.10449A>C	c.(10447-10449)ccA>ccC	p.P3483P	SACS_ENST00000402364.1_Silent_p.P2733P|SACS_ENST00000382298.3_Silent_p.P3483P			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3483					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.P3336P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCAATTTTTGGTAAGAGGT	0.323																																					p.P3483P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A10449C	13						.						53.0	55.0	54.0					13																	23907566		2198	4292	6490	22805566	SO:0001819	synonymous_variant	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10449A>C	13.37:g.23907566T>G			22805566	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.323	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23908736	23908736	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23908736C>A	ENST00000382292.3	-	9	9552	c.9279G>T	c.(9277-9279)gtG>gtT	p.V3093V	SACS_ENST00000402364.1_Silent_p.V2343V|SACS_ENST00000382298.3_Silent_p.V3093V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3093					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V2946V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCAGGGGTCACATAACTAA	0.373																																					p.V3093V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9279T	13						.						68.0	65.0	66.0					13																	23908736		2203	4300	6503	22806736	SO:0001819	synonymous_variant	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9279G>T	13.37:g.23908736C>A			22806736	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23908898	23908898	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23908898T>G	ENST00000382292.3	-	9	9390	c.9117A>C	c.(9115-9117)aaA>aaC	p.K3039N	SACS_ENST00000402364.1_Missense_Mutation_p.K2289N|SACS_ENST00000382298.3_Missense_Mutation_p.K3039N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3039					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K2892N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCTGCATTTTTAAGGTGTT	0.318																																					p.K3039N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9117C	13						.						104.0	102.0	103.0					13																	23908898		2203	4299	6502	22806898	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9117A>C	13.37:g.23908898T>G	ENSP00000371729:p.Lys3039Asn		22806898	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053188	0.55218	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88201	-2.21;-2.35;-2.21	5.64	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	L	0.40543	1.245	0.38650	D	0.951823	D	0.63880	0.993	P	0.59948	0.866	D	0.84248	0.0476	10	0.18276	T	0.48	.	10.1503	0.42788	0.0:0.1192:0.0:0.8808	.	3039	Q9NZJ4	SACS_HUMAN	N	3039;2289;3039	ENSP00000371729:K3039N;ENSP00000385844:K2289N;ENSP00000371735:K3039N	ENSP00000371729:K3039N	K	-	3	2	SACS	22806898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.655000	0.46707	0.436000	0.26393	0.454000	0.30748	AAA		0.318	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23909113	23909113	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23909113G>T	ENST00000382292.3	-	9	9175	c.8902C>A	c.(8902-8904)Ctt>Att	p.L2968I	SACS_ENST00000402364.1_Missense_Mutation_p.L2218I|SACS_ENST00000382298.3_Missense_Mutation_p.L2968I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2968					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L2821I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTAGATCAAGACGGTTAACT	0.383																																					p.L2968I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8902A	13						.						89.0	91.0	91.0					13																	23909113		2203	4299	6502	22807113	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8902C>A	13.37:g.23909113G>T	ENSP00000371729:p.Leu2968Ile		22807113	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769318	0.31320	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87179	-2.08;-2.22;-2.08	5.64	5.64	0.86602	.	0.067372	0.64402	D	0.000011	T	0.82213	0.4988	L	0.36672	1.1	0.36072	D	0.842162	D	0.57571	0.98	B	0.44315	0.446	D	0.84089	0.0389	10	0.29301	T	0.29	.	12.9722	0.58520	0.0738:0.0:0.9262:0.0	.	2968	Q9NZJ4	SACS_HUMAN	I	2968;2218;2968	ENSP00000371729:L2968I;ENSP00000385844:L2218I;ENSP00000371735:L2968I	ENSP00000371729:L2968I	L	-	1	0	SACS	22807113	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.348000	0.66004	2.653000	0.90120	0.555000	0.69702	CTT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23909694	23909694	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23909694C>A	ENST00000382292.3	-	9	8594	c.8321G>T	c.(8320-8322)aGa>aTa	p.R2774I	SACS_ENST00000402364.1_Missense_Mutation_p.R2024I|SACS_ENST00000382298.3_Missense_Mutation_p.R2774I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2774					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R2627I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCTTTTCAATCTGTCTCCATC	0.333																																					p.R2774I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8321T	13						.						100.0	92.0	95.0					13																	23909694		2203	4299	6502	22807694	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8321G>T	13.37:g.23909694C>A	ENSP00000371729:p.Arg2774Ile		22807694	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855606	0.91355	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.18;-2.37;-2.18	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91418	0.7292	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.59546	0.859	D	0.91770	0.5427	10	0.56958	D	0.05	.	19.0749	0.93156	0.0:1.0:0.0:0.0	.	2774	Q9NZJ4	SACS_HUMAN	I	2774;2024;2774	ENSP00000371729:R2774I;ENSP00000385844:R2024I;ENSP00000371735:R2774I	ENSP00000371729:R2774I	R	-	2	0	SACS	22807694	1.000000	0.71417	0.689000	0.30133	0.991000	0.79684	7.445000	0.80570	2.584000	0.87258	0.462000	0.41574	AGA		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23911196	23911196	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23911196T>G	ENST00000382292.3	-	9	7092	c.6819A>C	c.(6817-6819)tcA>tcC	p.S2273S	SACS_ENST00000402364.1_Silent_p.S1523S|SACS_ENST00000382298.3_Silent_p.S2273S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2273					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S2126S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAATGACACTGAACCACAAC	0.353																																					p.S2273S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6819C	13						.						48.0	50.0	49.0					13																	23911196		2203	4299	6502	22809196	SO:0001819	synonymous_variant	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6819A>C	13.37:g.23911196T>G			22809196	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23913102	23913102	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23913102C>T	ENST00000382292.3	-	9	5186	c.4913G>A	c.(4912-4914)aGc>aAc	p.S1638N	SACS_ENST00000402364.1_Missense_Mutation_p.S888N|SACS_ENST00000382298.3_Missense_Mutation_p.S1638N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1638					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S1491N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCATTATAGCTGTAAGGTGC	0.358																																					p.S1638N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4913A	13						.						136.0	128.0	131.0					13																	23913102		2203	4299	6502	22811102	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4913G>A	13.37:g.23913102C>T	ENSP00000371729:p.Ser1638Asn		22811102	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347853	0.24426	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88975	-2.45;-2.45;-2.45	5.84	5.84	0.93424	ATPase-like, ATP-binding domain (2);	0.088957	0.85682	D	0.000000	T	0.80706	0.4674	N	0.16368	0.405	0.33638	D	0.606938	P	0.38922	0.651	B	0.32677	0.15	T	0.81899	-0.0721	10	0.21540	T	0.41	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1638	Q9NZJ4	SACS_HUMAN	N	1638;888;1638	ENSP00000371729:S1638N;ENSP00000385844:S888N;ENSP00000371735:S1638N	ENSP00000371729:S1638N	S	-	2	0	SACS	22811102	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	5.393000	0.66279	2.760000	0.94817	0.655000	0.94253	AGC		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23913434	23913434	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23913434A>G	ENST00000382292.3	-	9	4854	c.4581T>C	c.(4579-4581)aaT>aaC	p.N1527N	SACS_ENST00000402364.1_Silent_p.N777N|SACS_ENST00000382298.3_Silent_p.N1527N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1527					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.N1380N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGAATTGAGAATTGTTGAATG	0.373																																					p.N1527N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4581C	13						.						62.0	58.0	60.0					13																	23913434		2203	4300	6503	22811434	SO:0001819	synonymous_variant	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4581T>C	13.37:g.23913434A>G			22811434	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23914615	23914615	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23914615C>T	ENST00000382292.3	-	9	3673	c.3400G>A	c.(3400-3402)Gtt>Att	p.V1134I	SACS_ENST00000402364.1_Missense_Mutation_p.V384I|SACS_ENST00000382298.3_Missense_Mutation_p.V1134I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1134					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V987I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTATTTAAAACCAGTAAGAGG	0.393																																					p.V1134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3400A	13						.						115.0	120.0	118.0					13																	23914615		2203	4300	6503	22812615	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3400G>A	13.37:g.23914615C>T	ENSP00000371729:p.Val1134Ile		22812615	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	6.760	0.509055	0.12883	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.1;-2.25;-2.1	6.16	5.32	0.75619	.	0.122006	0.56097	N	0.000028	T	0.74989	0.3789	N	0.21448	0.665	0.35087	D	0.763973	B	0.02656	0.0	B	0.01281	0.0	T	0.70421	-0.4876	10	0.13108	T	0.6	.	7.2921	0.26372	0.0:0.7278:0.0:0.2722	.	1134	Q9NZJ4	SACS_HUMAN	I	1134;384;1134	ENSP00000371729:V1134I;ENSP00000385844:V384I;ENSP00000371735:V1134I	ENSP00000371729:V1134I	V	-	1	0	SACS	22812615	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	3.829000	0.55760	1.623000	0.50342	0.650000	0.86243	GTT		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23915071	23915071	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23915071T>G	ENST00000382292.3	-	9	3217	c.2944A>C	c.(2944-2946)Aaa>Caa	p.K982Q	SACS_ENST00000402364.1_Missense_Mutation_p.K232Q|SACS_ENST00000382298.3_Missense_Mutation_p.K982Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	982					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.K835Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCTATTTTCAACATGTTT	0.358																																					p.K982Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2944C	13						.						75.0	74.0	74.0					13																	23915071		2203	4300	6503	22813071	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2944A>C	13.37:g.23915071T>G	ENSP00000371729:p.Lys982Gln		22813071	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698327	0.48307	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.13;-2.28;-2.13	6.05	6.05	0.98169	.	0.046859	0.85682	D	0.000000	T	0.81607	0.4858	L	0.29908	0.895	0.37528	D	0.917824	B	0.23650	0.089	B	0.16722	0.016	T	0.79391	-0.1823	10	0.41790	T	0.15	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	982	Q9NZJ4	SACS_HUMAN	Q	982;232;982	ENSP00000371729:K982Q;ENSP00000385844:K232Q;ENSP00000371735:K982Q	ENSP00000371729:K982Q	K	-	1	0	SACS	22813071	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.978000	0.70501	2.320000	0.78422	0.528000	0.53228	AAA		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23929770	23929770	+	Missense_Mutation	SNP	C	C	A	rs370395358		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:23929770C>A	ENST00000382292.3	-	7	1254	c.981G>T	c.(979-981)gaG>gaT	p.E327D	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.E327D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	327					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E180D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACACCAGTTTCTCTGTTCCGT	0.433																																					p.E327D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G981T	13						.	C	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	78.0		981	4.9	0.9	13		78	0,8600		0,0,4300	no	missense	SACS	NM_014363.4	45	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	327/4580	23929770	1,13005	2203	4300	6503	22827770	SO:0001583	missense	26278	exon8			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.981G>T	13.37:g.23929770C>A	ENSP00000371729:p.Glu327Asp		22827770	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.342142|2.342142	0.41498|0.41498	2.27E-4|2.27E-4	0.0|0.0	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	D;D|.	0.87491|.	-2.26;-2.26|.	5.72|5.72	4.86|4.86	0.63082|0.63082	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.58807|.	0.2148|.	M|M	0.71206|0.71206	2.165|2.165	0.38838|0.38838	D|D	0.956|0.956	D;P;P|.	0.64830|.	0.994;0.589;0.548|.	P;P;B|.	0.62184|.	0.899;0.544;0.415|.	T|.	0.57242|.	-0.7845|.	10|.	0.41790|0.06757	T|T	0.15|0.87	.|.	10.392|10.392	0.44179|0.44179	0.0:0.8493:0.0:0.1507|0.0:0.8493:0.0:0.1507	.|.	226;114;327|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	D|X	327|227	ENSP00000371729:E327D;ENSP00000371735:E327D|.	ENSP00000371729:E327D|ENSP00000406565:E227X	E|E	-|-	3|1	2|0	SACS|SACS	22827770|22827770	0.994000|0.994000	0.37717|0.37717	0.868000|0.868000	0.34077|0.34077	0.106000|0.106000	0.19336|0.19336	0.913000|0.913000	0.28611|0.28611	1.525000|1.525000	0.49052|0.49052	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
MIPEP	4285	broad.mit.edu	37	13	24334343	24334343	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:24334343C>T	ENST00000382172.3	-	17	1960	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	621					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R621Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GTGGCTGAATCGCAGCTGCCA	0.512																																					p.R621Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862A	13						.						82.0	80.0	81.0					13																	24334343		2203	4300	6503	23232343	SO:0001583	missense	4285	exon17				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.1862G>A	13.37:g.24334343C>T	ENSP00000371607:p.Arg621Gln		23232343	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.192669|5.192669	0.94960|0.94960	.|.	.|.	ENSG00000027001|ENSG00000027001	ENST00000433710|ENST00000382172	.|T	.|0.11495	.|2.77	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Neurolysin/Thimet oligopeptidase, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.23014|0.23014	0.0556|0.0556	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|P	.|0.58520	.|0.84	T|T	0.00124|0.00124	-1.2023|-1.2023	6|10	0.87932|0.51188	D|T	0|0.08	-20.6263|-20.6263	19.1287|19.1287	0.93396|0.93396	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|621	.|Q99797	.|MIPEP_HUMAN	N|Q	19|621	.|ENSP00000371607:R621Q	ENSP00000397404:D19N|ENSP00000371607:R621Q	D|R	-|-	1|2	0|0	MIPEP|MIPEP	23232343|23232343	1.000000|1.000000	0.71417|0.71417	0.639000|0.639000	0.29394|0.29394	0.788000|0.788000	0.44548|0.44548	5.652000|5.652000	0.67959|0.67959	2.631000|2.631000	0.89168|0.89168	0.462000|0.462000	0.41574|0.41574	GAT|CGA		0.512	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		
MIPEP	4285	broad.mit.edu	37	13	24443524	24443524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:24443524C>A	ENST00000382172.3	-	7	948	c.850G>T	c.(850-852)Gaa>Taa	p.E284*		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	284					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E284*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGAGCAATTCTTCTAAACAT	0.398																																					p.E284X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G850T	13						.						78.0	79.0	78.0					13																	24443524		2203	4300	6503	23341524	SO:0001587	stop_gained	4285	exon7				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.850G>T	13.37:g.24443524C>A	ENSP00000371607:p.Glu284*		23341524	NM_005932	Q5JV15|Q5T9Q9|Q96G65	Nonsense_Mutation	SNP	ENST00000382172.3	37	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	39	7.796665	0.98495	.	.	ENSG00000027001	ENST00000382172	.	.	.	5.9	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.9456	0.86229	0.0:0.8722:0.1278:0.0	.	.	.	.	X	284	.	ENSP00000371607:E284X	E	-	1	0	MIPEP	23341524	1.000000	0.71417	0.521000	0.27850	0.936000	0.57629	7.222000	0.78025	1.453000	0.47775	0.561000	0.74099	GAA		0.398	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1		
PARP4	143	broad.mit.edu	37	13	25060323	25060323	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25060323G>A	ENST00000381989.3	-	11	1440	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	445	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I445I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGATTCCCACGATGTTTTGTA	0.373																																					p.I445I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1335T	13						.						105.0	92.0	97.0					13																	25060323		2203	4300	6503	23958323	SO:0001819	synonymous_variant	143	exon11			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1335C>T	13.37:g.25060323G>A			23958323	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.373	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
ATP12A	479	broad.mit.edu	37	13	25263463	25263463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25263463G>T	ENST00000381946.3	+	5	663	c.496G>T	c.(496-498)Gag>Tag	p.E166*	ATP12A_ENST00000218548.6_Nonsense_Mutation_p.E166*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	166					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.E166*(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTATTACCAAGAGGCAAAAAG	0.522																																					p.E166X	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G496T	13						.						219.0	205.0	210.0					13																	25263463		2203	4300	6503	24161463	SO:0001587	stop_gained	479	exon5			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.496G>T	13.37:g.25263463G>T	ENSP00000371372:p.Glu166*		24161463	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	41	8.556387	0.98861	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1375	0.81497	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000218548:E166X	E	+	1	0	ATP12A	24161463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.680000	0.91292	0.561000	0.74099	GAG		0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25266635	25266635	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25266635G>T	ENST00000381946.3	+	9	1304	c.1137G>T	c.(1135-1137)gtG>gtT	p.V379V	ATP12A_ENST00000218548.6_Silent_p.V385V			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	379					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.V379V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGGAGGCTGTGGAGACCCTCG	0.557																																					p.V385V	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155T	13						.						90.0	81.0	84.0					13																	25266635		2203	4300	6503	24164635	SO:0001819	synonymous_variant	479	exon9			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1137G>T	13.37:g.25266635G>T			24164635	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.557	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25268621	25268621	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25268621A>C	ENST00000381946.3	+	11	1584	c.1417A>C	c.(1417-1419)Aaa>Caa	p.K473Q	ATP12A_ENST00000218548.6_Missense_Mutation_p.K479Q			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	473					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.K473Q(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TGCTCTTTTAAAATTCTCAGA	0.368											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K479Q	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1435C	13						.						116.0	126.0	123.0					13																	25268621		2203	4300	6503	24166621	SO:0001583	missense	479	exon11			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1417A>C	13.37:g.25268621A>C	ENSP00000371372:p.Lys473Gln	777	24166621	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131487	0.77549	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79845	-1.31;-1.31	5.55	5.55	0.83447	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	L	0.49455	1.56	0.58432	D	0.999994	D;D	0.76494	0.999;0.996	D;P	0.70227	0.968;0.892	D	0.87477	0.2418	10	0.87932	D	0	.	13.6515	0.62314	1.0:0.0:0.0:0.0	.	479;473	P54707-2;P54707	.;AT12A_HUMAN	Q	479;473	ENSP00000218548:K479Q;ENSP00000371372:K473Q	ENSP00000218548:K479Q	K	+	1	0	ATP12A	24166621	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.121000	0.77160	2.117000	0.64856	0.460000	0.39030	AAA		0.368	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25272866G>A	ENST00000381946.3	+	12	1750	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCCTGAGCGCATCCTAGAG	0.572																																					p.R534H	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1601A	13						.						99.0	95.0	97.0					13																	25272866		2203	4300	6503	24170866	SO:0001583	missense	479	exon12			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1583G>A	13.37:g.25272866G>A	ENSP00000371372:p.Arg528His		24170866	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572470	0.65765	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80480	-1.38;-1.38	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	D	0.88190	0.6370	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.71674	0.998;0.988	P;P	0.55055	0.767;0.598	D	0.90082	0.4171	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	H	534;528	ENSP00000218548:R534H;ENSP00000371372:R528H	ENSP00000218548:R534H	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	broad.mit.edu	37	13	25275049	25275049	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25275049G>A	ENST00000381946.3	+	13	2037	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	ATP12A_ENST00000218548.6_Missense_Mutation_p.A630T|RNY1P7_ENST00000384743.1_RNA			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	624					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.A624T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATGCCGGAGTGCAGGGATCAA	0.453																																					p.A630T	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1888A	13						.						109.0	98.0	102.0					13																	25275049		2203	4300	6503	24173049	SO:0001583	missense	479	exon13			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1870G>A	13.37:g.25275049G>A	ENSP00000371372:p.Ala624Thr		24173049	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029468	0.75504	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96940	-4.18;-4.18	6.17	6.17	0.99709	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.071421	0.64402	D	0.000020	D	0.99029	0.9668	H	0.98446	4.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.97;1.0	D	0.99120	1.0849	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	630;624	P54707-2;P54707	.;AT12A_HUMAN	T	630;624	ENSP00000218548:A630T;ENSP00000371372:A624T	ENSP00000218548:A630T	A	+	1	0	ATP12A	24173049	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	9.751000	0.98889	2.941000	0.99782	0.655000	0.94253	GCA		0.453	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RNF17	56163	broad.mit.edu	37	13	25362132	25362132	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25362132G>T	ENST00000255324.5	+	7	670	c.618G>T	c.(616-618)aaG>aaT	p.K206N	RNF17_ENST00000255325.6_Missense_Mutation_p.K206N|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.K206N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	206					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K206N(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAGGAAAAAGAACCTGTGTG	0.269																																					p.K206N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G618T	13						.						50.0	56.0	54.0					13																	25362132		2187	4289	6476	24260132	SO:0001583	missense	56163	exon7			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.618G>T	13.37:g.25362132G>T	ENSP00000255324:p.Lys206Asn		24260132	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426353	0.43020	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.18960	3.43;3.43;2.18	4.62	3.68	0.42216	.	0.225076	0.30920	N	0.008608	T	0.24084	0.0583	L	0.29908	0.895	0.27653	N	0.947321	P;P;D	0.67145	0.651;0.651;0.996	B;B;P	0.59948	0.216;0.165;0.866	T	0.03384	-1.1042	10	0.49607	T	0.09	.	5.5109	0.16880	0.1943:0.0:0.8057:0.0	.	206;206;206	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	N	206;206;65;207;206	ENSP00000255324:K206N;ENSP00000371346:K206N;ENSP00000255325:K207N	ENSP00000255324:K206N	K	+	3	2	RNF17	24260132	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	2.204000	0.42761	2.399000	0.81585	0.557000	0.71058	AAG		0.269	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RNF17	56163	broad.mit.edu	37	13	25367367	25367367	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25367367A>C	ENST00000255324.5	+	10	1175	c.1123A>C	c.(1123-1125)Aac>Cac	p.N375H	RNF17_ENST00000255325.6_Missense_Mutation_p.N375H|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.N375H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	375					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.N375H(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAAGCAAAAAACTTCCAGCC	0.423																																					p.N375H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1123C	13						.						154.0	146.0	149.0					13																	25367367		2203	4300	6503	24265367	SO:0001583	missense	56163	exon10			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1123A>C	13.37:g.25367367A>C	ENSP00000255324:p.Asn375His		24265367	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	6.387	0.439464	0.12104	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.18960	3.43;3.44;2.18	5.15	0.866	0.19079	.	1.903360	0.02243	N	0.065922	T	0.15998	0.0385	N	0.14661	0.345	0.09310	N	1	B;B;B	0.30709	0.291;0.291;0.25	B;B;B	0.37047	0.125;0.125;0.24	T	0.25398	-1.0133	10	0.37606	T	0.19	.	5.3465	0.16012	0.5728:0.3221:0.105:0.0	.	375;375;375	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	H	375;375;234;376;375	ENSP00000255324:N375H;ENSP00000371346:N375H;ENSP00000255325:N376H	ENSP00000255324:N375H	N	+	1	0	RNF17	24265367	0.000000	0.05858	0.001000	0.08648	0.246000	0.25737	0.348000	0.20031	0.001000	0.14605	0.528000	0.53228	AAC		0.423	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RNF17	56163	broad.mit.edu	37	13	25399853	25399853	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25399853G>T	ENST00000255324.5	+	16	2240	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y	RNF17_ENST00000381921.1_Missense_Mutation_p.D730Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	730	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D730Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCAGTTCAAGATCAAGCCTG	0.383																																					p.D730Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2188T	13						.						101.0	98.0	99.0					13																	25399853		2203	4300	6503	24297853	SO:0001583	missense	56163	exon16			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2188G>T	13.37:g.25399853G>T	ENSP00000255324:p.Asp730Tyr		24297853	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196457	0.58126	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.12465	2.68;2.68;2.68	4.69	2.91	0.33838	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.813267	0.10890	N	0.622764	T	0.23210	0.0561	L	0.49778	1.585	0.80722	D	1	P;D	0.58620	0.954;0.983	P;P	0.55222	0.771;0.663	T	0.01532	-1.1331	10	0.87932	D	0	.	8.0305	0.30461	0.188:0.0:0.812:0.0	.	730;730	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Y	730;730;589;54	ENSP00000255324:D730Y;ENSP00000371346:D730Y;ENSP00000388892:D54Y	ENSP00000255324:D730Y	D	+	1	0	RNF17	24297853	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	1.824000	0.39072	0.492000	0.27815	0.491000	0.48974	GAT		0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RNF17	56163	broad.mit.edu	37	13	25418008	25418008	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25418008T>G	ENST00000255324.5	+	20	2782	c.2730T>G	c.(2728-2730)ttT>ttG	p.F910L	RNF17_ENST00000381921.1_Missense_Mutation_p.F910L|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	910					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.F910L(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGAGAATTTTCAGTCACTTT	0.318																																					p.F910L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2730G	13						.						56.0	58.0	57.0					13																	25418008		2203	4293	6496	24316008	SO:0001583	missense	56163	exon20			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2730T>G	13.37:g.25418008T>G	ENSP00000255324:p.Phe910Leu		24316008	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	1.848	-0.465720	0.04476	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.10763	3.6;3.6;2.84	4.72	1.68	0.24146	.	0.776710	0.12173	N	0.492811	T	0.03651	0.0104	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.002	T	0.37549	-0.9701	10	0.10111	T	0.7	-0.0208	3.4584	0.07524	0.1548:0.4167:0.3343:0.0942	.	910;910;910	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	L	910;910;769;234	ENSP00000255324:F910L;ENSP00000371346:F910L;ENSP00000388892:F234L	ENSP00000255324:F910L	F	+	3	2	RNF17	24316008	0.352000	0.24895	1.000000	0.80357	0.929000	0.56500	-0.432000	0.06956	0.681000	0.31386	-0.285000	0.09966	TTT		0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
CENPJ	55835	broad.mit.edu	37	13	25457389	25457389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25457389C>A	ENST00000381884.4	-	17	4128	c.3943G>T	c.(3943-3945)Gaa>Taa	p.E1315*	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1315					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.E1315*(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TACTTCGTTTCTTGATGACCG	0.443																																					p.E1315X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3943T	13						.						345.0	293.0	311.0					13																	25457389		2203	4300	6503	24355389	SO:0001587	stop_gained	55835	exon17			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3943G>T	13.37:g.25457389C>A	ENSP00000371308:p.Glu1315*		24355389	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	43	10.153419	0.99348	.	.	ENSG00000151849	ENST00000381884	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.0075	0.92857	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000371308:E1315X	E	-	1	0	CENPJ	24355389	1.000000	0.71417	0.940000	0.37924	0.833000	0.47200	7.113000	0.77095	2.791000	0.96007	0.591000	0.81541	GAA		0.443	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CENPJ	55835	broad.mit.edu	37	13	25473704	25473704	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:25473704G>A	ENST00000381884.4	-	9	3029	c.2844C>T	c.(2842-2844)ttC>ttT	p.F948F	CENPJ_ENST00000545981.1_Silent_p.F948F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	948					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.F948F(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTTGTTCGAAGTCTGCAA	0.378																																					p.F948F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2844T	13						.						86.0	78.0	81.0					13																	25473704		2202	4298	6500	24371704	SO:0001819	synonymous_variant	55835	exon9			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2844C>T	13.37:g.25473704G>A			24371704	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	8.571	0.880147	0.17467	.	.	ENSG00000151849	ENST00000418179	.	.	.	5.25	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1184	0.42605	0.9192:0.0:0.0808:0.0	.	.	.	.	X	30	.	.	R	-	1	2	CENPJ	24371704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.486000	0.45259	0.843000	0.35070	-0.259000	0.10710	CGA		0.378	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
ATP8A2	51761	broad.mit.edu	37	13	26129171	26129171	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:26129171G>A	ENST00000381655.2	+	13	1370	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A370T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	370					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.A410T(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)		TCCTGCCATGGCCAGGACATC	0.418																																					p.A410T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1228A	13						.						104.0	101.0	102.0					13																	26129171		1840	4099	5939	25027171	SO:0001583	missense	51761	exon13			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1228G>A	13.37:g.26129171G>A	ENSP00000371070:p.Ala410Thr		25027171	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275722	0.95459	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.88664	-2.41;-2.41	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	L	0.53671	1.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.93612	0.6940	10	0.72032	D	0.01	.	18.6642	0.91483	0.0:0.0:1.0:0.0	.	370;370;370	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	T	410;370;190	ENSP00000371070:A410T;ENSP00000255283:A370T	ENSP00000255283:A370T	A	+	1	0	ATP8A2	25027171	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.493000	0.97960	2.656000	0.90262	0.637000	0.83480	GCC		0.418	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
ATP8A2	51761	broad.mit.edu	37	13	26155966	26155966	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:26155966C>A	ENST00000381655.2	+	23	2159	c.2017C>A	c.(2017-2019)Cta>Ata	p.L673I	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L633I|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	633					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.L673I(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)		GAATTTGCTGCTACTTGGAGC	0.403																																					p.L673I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2017A	13						.						84.0	78.0	80.0					13																	26155966		1860	4100	5960	25053966	SO:0001583	missense	51761	exon23			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.2017C>A	13.37:g.26155966C>A	ENSP00000371070:p.Leu673Ile		25053966	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808897	0.50421	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.72051	-0.62;-0.62	6.17	-5.31	0.02730	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	D	0.83170	0.5196	M	0.83312	2.635	0.51233	D	0.999917	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.84804	0.0786	10	0.87932	D	0	.	20.4787	0.99198	0.0:0.8433:0.0:0.1567	.	633;453;633	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	I	673;633;453	ENSP00000371070:L673I;ENSP00000255283:L633I	ENSP00000255283:L633I	L	+	1	2	ATP8A2	25053966	0.999000	0.42202	0.518000	0.27811	0.206000	0.24218	0.984000	0.29565	-0.876000	0.04017	-0.768000	0.03414	CTA		0.403	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
ATP8A2	51761	broad.mit.edu	37	13	26535765	26535765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:26535765C>A	ENST00000381655.2	+	34	3378	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	ATP8A2_ENST00000255283.8_Missense_Mutation_p.P1014H	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1039					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.P1079H(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)		TTTCTGGTTCCTACTGCCTGT	0.453																																					p.P1079H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3236A	13						.						200.0	183.0	188.0					13																	26535765		1929	4138	6067	25433765	SO:0001583	missense	51761	exon34			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.3236C>A	13.37:g.26535765C>A	ENSP00000371070:p.Pro1079His		25433765	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595455	0.66219	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.58652	0.32;0.32	5.48	5.48	0.80851	.	0.141452	0.48286	D	0.000194	T	0.80523	0.4639	M	0.88181	2.935	0.49798	D	0.999825	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.83854	0.0264	10	0.87932	D	0	.	17.4784	0.87667	0.0:1.0:0.0:0.0	.	1014;1039	B7Z880;Q9NTI2	.;AT8A2_HUMAN	H	1079;1014;859	ENSP00000371070:P1079H;ENSP00000255283:P1014H	ENSP00000255283:P1014H	P	+	2	0	ATP8A2	25433765	0.991000	0.36638	0.918000	0.36340	0.608000	0.37181	3.020000	0.49643	2.722000	0.93159	0.650000	0.86243	CCT		0.453	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
CDK8	1024	broad.mit.edu	37	13	26967555	26967555	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:26967555T>G	ENST00000381527.3	+	7	1201	c.698T>G	c.(697-699)aTa>aGa	p.I233R	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I233R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TCAGAACCAATATTTCACTGT	0.343																																					p.I233R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T698G	13						.						169.0	160.0	163.0					13																	26967555		2203	4300	6503	25865555	SO:0001583	missense	1024	exon7			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.698T>G	13.37:g.26967555T>G	ENSP00000370938:p.Ile233Arg		25865555	NM_001260	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220566	0.79464	.	.	ENSG00000132964	ENST00000381527	T	0.66280	-0.2	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.71296	2.17	0.80722	D	1	D;D	0.57257	0.974;0.979	D;D	0.66979	0.913;0.948	T	0.80448	-0.1378	10	0.87932	D	0	-16.1545	15.5584	0.76219	0.0:0.0:0.0:1.0	.	233;233	P49336-2;P49336	.;CDK8_HUMAN	R	233	ENSP00000370938:I233R	ENSP00000370938:I233R	I	+	2	0	CDK8	25865555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.122000	0.65172	0.528000	0.53228	ATA		0.343	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1		
USP12	219333	broad.mit.edu	37	13	27690731	27690731	+	Silent	SNP	G	G	A	rs367930012		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:27690731G>A	ENST00000282344.6	-	2	307	c.51C>T	c.(49-51)ggC>ggT	p.G17G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	17					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G17G(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGCATTGGCGCCCTATAAAA	0.388																																					p.G17G	Ovarian(37;808 911 7590 44442 44991)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	13						.	G		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		51	5.3	1.0	13		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP12	NM_182488.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		17/371	27690731	2,13004	2203	4300	6503	26588731	SO:0001819	synonymous_variant	219333	exon2			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.51C>T	13.37:g.27690731G>A			26588731	NM_182488	A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	CCDS31952.1																																																																																				0.388	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488	
LNX2	222484	broad.mit.edu	37	13	28127379	28127379	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28127379A>G	ENST00000316334.3	-	8	1873	c.1744T>C	c.(1744-1746)Tcc>Ccc	p.S582P		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	582					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.S582P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CATGATGGGGACCAACTGGCA	0.498																																					p.S582P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1744C	13						.						106.0	94.0	98.0					13																	28127379		2203	4300	6503	27025379	SO:0001583	missense	222484	exon8			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1744T>C	13.37:g.28127379A>G	ENSP00000325929:p.Ser582Pro		27025379	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	A	30	5.053344	0.93793	.	.	ENSG00000139517	ENST00000316334	T	0.06449	3.3	6.05	6.05	0.98169	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.82056	2.57	0.80722	D	1	P	0.37525	0.598	B	0.37601	0.254	T	0.00516	-1.1694	10	0.66056	D	0.02	.	16.5993	0.84807	1.0:0.0:0.0:0.0	.	582	Q8N448	LNX2_HUMAN	P	582	ENSP00000325929:S582P	ENSP00000325929:S582P	S	-	1	0	LNX2	27025379	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.957000	0.93082	2.311000	0.77944	0.528000	0.53228	TCC		0.498	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		
FLT3	2322	broad.mit.edu	37	13	28601234	28601234	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28601234G>T	ENST00000241453.7	-	17	2279	c.2198C>A	c.(2197-2199)cCa>cAa	p.P733Q	FLT3_ENST00000537084.1_Missense_Mutation_p.P733Q|FLT3_ENST00000380982.4_Missense_Mutation_p.P733Q	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	733	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P733Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGGAATTTGGATGTGATTG	0.388			"""Mis, O"""		"""AML, ALL"""																																p.P733Q			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2198A	13						.						161.0	165.0	163.0					13																	28601234		2203	4300	6503	27499234	SO:0001583	missense	2322	exon17			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2198C>A	13.37:g.28601234G>T	ENSP00000241453:p.Pro733Gln		27499234	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	4.277	0.050513	0.08243	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76316	-0.94;-1.01;-0.78	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.474234	0.21792	N	0.069049	T	0.70640	0.3247	L	0.47716	1.5	0.09310	N	1	B;B	0.14012	0.009;0.007	B;B	0.12156	0.007;0.004	T	0.55321	-0.8159	10	0.23302	T	0.38	.	13.2333	0.59955	0.0:0.0:0.7407:0.2593	.	733;733	P36888-2;P36888	.;FLT3_HUMAN	Q	733	ENSP00000241453:P733Q;ENSP00000370369:P733Q;ENSP00000438139:P733Q	ENSP00000241453:P733Q	P	-	2	0	FLT3	27499234	0.918000	0.31147	0.962000	0.40283	0.922000	0.55478	1.584000	0.36589	2.861000	0.98227	0.655000	0.94253	CCA		0.388	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
FLT3	2322	broad.mit.edu	37	13	28636159	28636160	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28636159_28636160GC>TA	ENST00000241453.7	-	3	293_294	c.212_213GC>TA	c.(211-213)aGC>aTA	p.S71I	FLT3_ENST00000537084.1_Missense_Mutation_p.S71I|FLT3_ENST00000380982.4_Missense_Mutation_p.S71I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	71				S -> N (in Ref. 5; AAI44040). {ECO:0000305}.	B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S71>?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTCCCTGAGCTCTGGGGTCT	0.53			"""Mis, O"""		"""AML, ALL"""																																.			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	.	.	1	Complex(1)	large_intestine(1)	c.212_213TA	13						.																																			27534160	SO:0001583	missense	2322	exon3			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.212_213delinsTA	13.37:g.28636159_28636160delinsTA	ENSP00000241453:p.Ser71Ile		27534159	NM_004119	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	DNP	ENST00000241453.7	37	CCDS31953.1																																																																																				0.530	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
PAN3	255967	broad.mit.edu	37	13	28841485	28841485	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28841485G>A	ENST00000380958.3	+	12	1891	c.1739G>A	c.(1738-1740)aGc>aAc	p.S580N	PAN3_ENST00000282391.5_Missense_Mutation_p.S268N|PAN3_ENST00000399613.1_Missense_Mutation_p.S380N	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.S380N(2)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTATGATGAGCAGACACTTT	0.368																																					p.S580N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1739A	13						.						134.0	125.0	128.0					13																	28841485		2203	4300	6503	27739485	SO:0001583	missense	255967	exon12			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1739G>A	13.37:g.28841485G>A	ENSP00000370345:p.Ser580Asn		27739485	NM_175854		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295351	0.40594	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.20069	2.1;2.1;2.1	5.56	4.72	0.59763	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115505	0.85682	N	0.000000	T	0.16599	0.0399	L	0.28344	0.845	0.80722	D	1	B;B;B;B	0.31790	0.34;0.314;0.015;0.112	B;B;B;B	0.33846	0.171;0.075;0.009;0.048	T	0.05666	-1.0871	10	0.22706	T	0.39	-4.8908	14.5814	0.68295	0.0704:0.0:0.9296:0.0	.	580;580;268;526	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	N	580;380;268	ENSP00000370345:S580N;ENSP00000382522:S380N;ENSP00000282391:S268N	ENSP00000282391:S268N	S	+	2	0	PAN3	27739485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.359000	0.45940	-0.157000	0.13467	AGC		0.368	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
PAN3	255967	broad.mit.edu	37	13	28851448	28851448	+	Missense_Mutation	SNP	G	G	T	rs148327218		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28851448G>T	ENST00000380958.3	+	15	2276	c.2124G>T	c.(2122-2124)gaG>gaT	p.E708D	PAN3_ENST00000282391.5_Missense_Mutation_p.E396D|PAN3_ENST00000399613.1_Missense_Mutation_p.E508D	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit									p.E508D(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCAGCGAGAGAATTTACAGA	0.348																																					p.E708D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2124T	13						.	G	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	114.0	117.0	116.0		2124	1.3	1.0	13	dbSNP_134	116	0,8600		0,0,4300	no	missense	PAN3	NM_175854.7	45	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	708/888	28851448	1,13005	2203	4300	6503	27749448	SO:0001583	missense	255967	exon15			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2124G>T	13.37:g.28851448G>T	ENSP00000370345:p.Glu708Asp		27749448	NM_175854		Missense_Mutation	SNP	ENST00000380958.3	37	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096794	0.20552	2.27E-4	0.0	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.46819	0.86;0.86;0.86	5.81	1.28	0.21552	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043570	0.85682	N	0.000000	T	0.22589	0.0545	N	0.13168	0.305	0.58432	D	0.999998	P;B;P	0.36315	0.547;0.023;0.487	B;B;B	0.37989	0.262;0.015;0.122	T	0.22417	-1.0217	10	0.02654	T	1	-8.5289	6.638	0.22893	0.3084:0.0:0.5691:0.1225	.	708;396;654	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	D	708;508;396	ENSP00000370345:E708D;ENSP00000382522:E508D;ENSP00000282391:E396D	ENSP00000282391:E396D	E	+	3	2	PAN3	27749448	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.900000	0.28431	0.286000	0.22352	0.655000	0.94253	GAG		0.348	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
PAN3	255967	broad.mit.edu	37	13	28862202	28862202	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28862202G>T	ENST00000380958.3	+	18	2618	c.2466G>T	c.(2464-2466)gtG>gtT	p.V822V	PAN3_ENST00000282391.5_Silent_p.V510V|PAN3_ENST00000399613.1_Silent_p.V622V	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCATCAGGTGACAGAAGCAG	0.388																																					p.V822V												.	.	0			c.G2466T	13						.						119.0	116.0	117.0					13																	28862202		2203	4300	6503	27760202	SO:0001819	synonymous_variant	255967	exon18			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2466G>T	13.37:g.28862202G>T			27760202	NM_175854		Silent	SNP	ENST00000380958.3	37	CCDS9329.2																																																																																				0.388	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
FLT1	2321	broad.mit.edu	37	13	28901613	28901613	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28901613A>C	ENST00000282397.4	-	20	3033	c.2782T>G	c.(2782-2784)Ttt>Gtt	p.F928V	FLT1_ENST00000540678.1_Missense_Mutation_p.F146V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	928	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.F928V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAGAAAAAATAAGTCACGT	0.373																																					p.F928V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2782G	13						.						79.0	77.0	78.0					13																	28901613		2203	4300	6503	27799613	SO:0001583	missense	2321	exon20			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2782T>G	13.37:g.28901613A>C	ENSP00000282397:p.Phe928Val		27799613	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513142	0.85389	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	D;D	0.88741	-2.42;-2.42	5.8	5.8	0.92144	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93147	0.6546	10	0.87932	D	0	.	16.1412	0.81522	1.0:0.0:0.0:0.0	.	928	P17948	VGFR1_HUMAN	V	928;146	ENSP00000282397:F928V;ENSP00000443311:F146V	ENSP00000282397:F928V	F	-	1	0	FLT1	27799613	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.339000	0.96797	2.216000	0.71823	0.402000	0.26972	TTT		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	28959097	28959097	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:28959097C>A	ENST00000282397.4	-	14	2292	c.2041G>T	c.(2041-2043)Gac>Tac	p.D681Y	FLT1_ENST00000541932.1_Missense_Mutation_p.D681Y	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	681	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.D681Y(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGACAGTCTAAAGTGGTG	0.443																																					p.D681Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041T	13						.						215.0	193.0	200.0					13																	28959097		2203	4300	6503	27857097	SO:0001583	missense	2321	exon14			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2041G>T	13.37:g.28959097C>A	ENSP00000282397:p.Asp681Tyr		27857097	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218592	0.39201	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.68025	-0.3;-0.3	5.72	4.86	0.63082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.384025	0.29653	N	0.011546	T	0.64114	0.2569	N	0.25647	0.755	0.80722	D	1	P;P	0.52170	0.951;0.946	P;P	0.55455	0.672;0.776	T	0.58352	-0.7651	10	0.11794	T	0.64	.	14.4437	0.67336	0.0:0.8175:0.1825:0.0	.	681;681	P17948-3;P17948	.;VGFR1_HUMAN	Y	681	ENSP00000282397:D681Y;ENSP00000437631:D681Y	ENSP00000282397:D681Y	D	-	1	0	FLT1	27857097	0.979000	0.34478	0.869000	0.34112	0.229000	0.25112	1.484000	0.35508	1.311000	0.45024	0.655000	0.94253	GAC		0.443	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
SLC46A3	283537	broad.mit.edu	37	13	29287375	29287375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29287375G>A	ENST00000266943.6	-	3	871	c.502C>T	c.(502-504)Cga>Tga	p.R168*	SLC46A3_ENST00000380814.4_Nonsense_Mutation_p.R168*	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	168					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R168*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ATAGCTATTCGAATTGTTTTT	0.373																																					p.R168X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C502T	13						.						62.0	60.0	61.0					13																	29287375		2203	4300	6503	28185375	SO:0001587	stop_gained	283537	exon3				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.502C>T	13.37:g.29287375G>A	ENSP00000266943:p.Arg168*		28185375	NM_181785	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Nonsense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373792	0.98245	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	.	.	.	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1697	17.0043	0.86388	0.0:0.0:0.872:0.128	.	.	.	.	X	168	.	ENSP00000266943:R168X	R	-	1	2	SLC46A3	28185375	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	5.976000	0.70484	2.941000	0.99782	0.655000	0.94253	CGA		0.373	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785	
MTUS2	23281	broad.mit.edu	37	13	29598891	29598891	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29598891G>T	ENST00000431530.3	+	1	144	c.86G>T	c.(85-87)aGa>aTa	p.R29I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	19						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R29I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGGACAACAGAAATGCAGCA	0.458																																					p.R29I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G86T	13						.						75.0	72.0	73.0					13																	29598891		1918	4134	6052	28496891	SO:0001583	missense	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.86G>T	13.37:g.29598891G>T	ENSP00000392057:p.Arg29Ile		28496891	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	15.51	2.856341	0.51376	.	.	ENSG00000132938	ENST00000431530	T	0.19105	2.17	5.84	4.11	0.48088	.	0.106937	0.37955	N	0.001866	T	0.38558	0.1045	M	0.62723	1.935	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.06807	-1.0806	9	.	.	.	.	11.8423	0.52361	0.1418:0.0:0.8582:0.0	.	19	Q5JR59	MTUS2_HUMAN	I	29	ENSP00000392057:R29I	.	R	+	2	0	MTUS2	28496891	1.000000	0.71417	0.968000	0.41197	0.171000	0.22731	1.376000	0.34306	0.808000	0.34231	0.563000	0.77884	AGA		0.458	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29599124	29599124	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29599124G>A	ENST00000431530.3	+	1	377	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	97						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.D107N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGCCTGAAAGATTTTAGACT	0.488																																					p.D107N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	13						.						38.0	38.0	38.0					13																	29599124		1859	4088	5947	28497124	SO:0001583	missense	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.319G>A	13.37:g.29599124G>A	ENSP00000392057:p.Asp107Asn		28497124	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	14.69	2.610545	0.46527	.	.	ENSG00000132938	ENST00000431530	T	0.15487	2.42	5.37	5.37	0.77165	.	0.664002	0.13608	N	0.375324	T	0.32912	0.0845	L	0.51422	1.61	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.01027	-1.1476	9	.	.	.	.	18.0886	0.89466	0.0:0.0:1.0:0.0	.	97	Q5JR59	MTUS2_HUMAN	N	107	ENSP00000392057:D107N	.	D	+	1	0	MTUS2	28497124	0.996000	0.38824	0.019000	0.16419	0.018000	0.09664	3.934000	0.56553	2.509000	0.84616	0.563000	0.77884	GAT		0.488	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29600045	29600045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29600045G>T	ENST00000431530.3	+	1	1298	c.1240G>T	c.(1240-1242)Gga>Tga	p.G414*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	404						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.G414*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCTTCCTTAGGAGGGGCTGA	0.537																																					p.G414X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1240T	13						.						32.0	34.0	33.0					13																	29600045		1919	4144	6063	28498045	SO:0001587	stop_gained	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1240G>T	13.37:g.29600045G>T	ENSP00000392057:p.Gly414*		28498045	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	37	6.078471	0.97262	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.56	2.85	0.33270	.	1.231650	0.05924	N	0.634004	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4935	0.38974	0.0784:0.4427:0.4789:0.0	.	.	.	.	X	414	.	.	G	+	1	0	MTUS2	28498045	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.211000	0.17474	0.284000	0.22305	0.655000	0.94253	GGA		0.537	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29600576	29600576	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29600576T>C	ENST00000431530.3	+	1	1829	c.1771T>C	c.(1771-1773)Ttg>Ctg	p.L591L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	581						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L591L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCACGCTTGTTGAACACGTC	0.557																																					p.L591L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1771C	13						.						77.0	81.0	80.0					13																	29600576		1993	4168	6161	28498576	SO:0001819	synonymous_variant	23281	exon1			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1771T>C	13.37:g.29600576T>C			28498576	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	CCDS45022.1																																																																																				0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	29608168	29608168	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:29608168G>T	ENST00000431530.3	+	2	2440	c.2382G>T	c.(2380-2382)agG>agT	p.R794S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	784	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R794S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAAAGAGCAGGATTCTGATTG	0.517																																					p.R794S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2382T	13						.						102.0	102.0	102.0					13																	29608168		2094	4218	6312	28506168	SO:0001583	missense	23281	exon2			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2382G>T	13.37:g.29608168G>T	ENSP00000392057:p.Arg794Ser		28506168	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797689	0.70567	.	.	ENSG00000132938	ENST00000431530	T	0.44083	0.93	5.46	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.58424	0.2121	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58222	-0.7674	9	.	.	.	.	8.0174	0.30389	0.2417:0.0:0.7583:0.0	.	784	Q5JR59	MTUS2_HUMAN	S	794	ENSP00000392057:R794S	.	R	+	3	2	MTUS2	28506168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.939000	0.48995	1.288000	0.44600	0.655000	0.94253	AGG		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270	
SLC7A1	6541	broad.mit.edu	37	13	30107082	30107082	+	Silent	SNP	G	G	A	rs144196494		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:30107082G>A	ENST00000380752.5	-	4	794	c.408C>T	c.(406-408)ttC>ttT	p.F136F		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	136					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.F136F(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCAGCTCGTCGAAGGTGGCGC	0.562																																					p.F136F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	13						.	G		0,4406		0,0,2203	71.0	67.0	68.0		408	-2.0	0.4	13	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC7A1	NM_003045.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		136/630	30107082	1,13005	2203	4300	6503	29005082	SO:0001819	synonymous_variant	6541	exon4			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.408C>T	13.37:g.30107082G>A			29005082	NM_003045	Q5JR50	Silent	SNP	ENST00000380752.5	37	CCDS9333.1																																																																																				0.562	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045	
UBL3	5412	broad.mit.edu	37	13	30351348	30351348	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:30351348G>T	ENST00000380680.4	-	2	1225	c.80C>A	c.(79-81)tCt>tAt	p.S27Y		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	27	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S27Y(1)		large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ATCGTTAGGAGAAAACAGGAA	0.313																																					p.S27Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C80A	13						.						100.0	96.0	97.0					13																	30351348		2203	4300	6503	29249348	SO:0001583	missense	5412	exon2			AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.80C>A	13.37:g.30351348G>T	ENSP00000370055:p.Ser27Tyr		29249348	NM_007106	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794740	0.90453	.	.	ENSG00000122042	ENST00000380680	.	.	.	5.77	5.77	0.91146	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.78916	2.43	0.80722	D	1	D	0.64830	0.994	P	0.62560	0.904	T	0.79035	-0.1968	9	0.54805	T	0.06	-21.55	19.335	0.94312	0.0:0.0:1.0:0.0	.	27	O95164	UBL3_HUMAN	Y	27	.	ENSP00000370055:S27Y	S	-	2	0	UBL3	29249348	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.286000	0.95898	2.890000	0.99128	0.650000	0.86243	TCT		0.313	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106	
UBL3	5412	broad.mit.edu	37	13	30423672	30423672	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:30423672A>G	ENST00000380680.4	-	1	1149	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	2						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.S2P(1)		large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACATTACTGGACATCTTGCCG	0.393																																					p.S2P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4C	13						.						125.0	114.0	118.0					13																	30423672		2203	4300	6503	29321672	SO:0001583	missense	5412	exon1			AF044221	CCDS9334.1	13q12-q13	2008-07-18			ENSG00000122042	ENSG00000122042			12504	protein-coding gene	gene with protein product		604711		PNSC1		10375635	Standard	NM_007106		Approved	HCG-1, DKFZP434K151, FLJ32018	uc001usp.3	O95164	OTTHUMG00000016661	ENST00000380680.4:c.4T>C	13.37:g.30423672A>G	ENSP00000370055:p.Ser2Pro		29321672	NM_007106	B2R4J1|Q5RL72|Q5VZS0|Q6FIG8|Q96SG7	Missense_Mutation	SNP	ENST00000380680.4	37	CCDS9334.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736111	0.49045	.	.	ENSG00000122042	ENST00000380680	.	.	.	4.69	4.69	0.59074	.	0.550372	0.18400	N	0.142394	T	0.46054	0.1373	L	0.50333	1.59	0.32380	N	0.554615	B	0.17268	0.021	B	0.17433	0.018	T	0.53837	-0.8382	9	0.38643	T	0.18	0.0209	10.4608	0.44578	1.0:0.0:0.0:0.0	.	2	O95164	UBL3_HUMAN	P	2	.	ENSP00000370055:S2P	S	-	1	0	UBL3	29321672	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.014000	0.57145	1.970000	0.57323	0.459000	0.35465	TCC		0.393	UBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044342.1	NM_007106	
HMGB1	3146	broad.mit.edu	37	13	31036768	31036768	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:31036768C>T	ENST00000405805.1	-	4	1318	c.378G>A	c.(376-378)gcG>gcA	p.A126A	HMGB1_ENST00000399489.1_Silent_p.A126A|HMGB1_ENST00000339872.4_Silent_p.A126A|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399494.1_Silent_p.A126A|HMGB1_ENST00000341423.5_Silent_p.A126A|HMGB1_ENST00000326004.4_Silent_p.A126A			P09429	HMGB1_HUMAN	high mobility group box 1	126					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)	p.A126A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCAGTTTCTTCGCAACATCAC	0.413																																					p.A126A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G378A	13						.						96.0	88.0	91.0					13																	31036768		2202	4280	6482	29934768	SO:0001819	synonymous_variant	3146	exon4			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.378G>A	13.37:g.31036768C>T			29934768	NM_002128	A5D8W9|Q14321|Q5T7C3|Q6IBE1	Silent	SNP	ENST00000405805.1	37	CCDS9335.1																																																																																				0.413	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128	
USPL1	10208	broad.mit.edu	37	13	31216867	31216867	+	Missense_Mutation	SNP	C	C	T	rs528822246	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:31216867C>T	ENST00000255304.4	+	6	1427	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	362	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.S362L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTTGAATGTTCGCAGTGTGGA	0.373													C|||	2	0.000399361	0.0	0.0	5008	,	,		17987	0.0		0.0	False		,,,				2504	0.002				p.S362L	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1085T	13						.						134.0	134.0	134.0					13																	31216867		2202	4300	6502	30114867	SO:0001583	missense	10208	exon6			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1085C>T	13.37:g.31216867C>T	ENSP00000255304:p.Ser362Leu		30114867	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981820	0.18812	.	.	ENSG00000132952	ENST00000255304	T	0.43294	0.95	5.42	4.57	0.56435	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.797343	0.11776	N	0.530632	T	0.26991	0.0661	L	0.55481	1.735	0.28322	N	0.922191	P	0.37500	0.597	B	0.26693	0.072	T	0.32824	-0.9892	10	0.02654	T	1	-11.0454	6.7363	0.23411	0.0:0.8096:0.0:0.1904	.	362	Q5W0Q7	USPL1_HUMAN	L	362	ENSP00000255304:S362L	ENSP00000255304:S362L	S	+	2	0	USPL1	30114867	0.987000	0.35691	0.918000	0.36340	0.708000	0.40852	3.077000	0.50089	2.705000	0.92388	0.591000	0.81541	TCG		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
MEDAG	84935	broad.mit.edu	37	13	31495952	31495952	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:31495952C>A	ENST00000380482.4	+	4	1081	c.756C>A	c.(754-756)ttC>ttA	p.F252L	TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000588726.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	252					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)		p.F252L(1)									GGAGCAGTTTCTCTGACCGAA	0.358																																					p.F252L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C756A	13						.						49.0	51.0	50.0					13																	31495952		2203	4300	6503	30393952	SO:0001583	missense	84935	exon4			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.756C>A	13.37:g.31495952C>A	ENSP00000369849:p.Phe252Leu		30393952	NM_032849	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	ENST00000380482.4	37	CCDS9338.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464506	0.63513	.	.	ENSG00000102802	ENST00000380482	T	0.50813	0.73	5.33	3.6	0.41247	.	0.070853	0.64402	D	0.000013	T	0.49201	0.1543	N	0.24115	0.695	0.31727	N	0.637485	D	0.56035	0.974	D	0.70487	0.969	T	0.54636	-0.8264	10	0.51188	T	0.08	-21.5399	7.4504	0.27235	0.0:0.7333:0.0:0.2667	.	252	Q5VYS4	CM033_HUMAN	L	252	ENSP00000369849:F252L	ENSP00000369849:F252L	F	+	3	2	C13orf33	30393952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.884000	0.28214	0.641000	0.30601	0.462000	0.41574	TTC		0.358	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044375.1	NM_032849	
RXFP2	122042	broad.mit.edu	37	13	32365998	32365998	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32365998C>T	ENST00000298386.2	+	15	1272	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	RXFP2_ENST00000380314.1_Missense_Mutation_p.P377S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	401					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)	p.P401S(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATATGTATGCCCTTGACGGA	0.393																																					p.P377S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1129T	13						.						184.0	167.0	172.0					13																	32365998		2203	4300	6503	31263998	SO:0001583	missense	122042	exon14			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1201C>T	13.37:g.32365998C>T	ENSP00000298386:p.Pro401Ser		31263998	NM_001166058	B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819849	0.90873	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.73681	-0.77;-0.72	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87819	0.6273	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89295	0.3622	10	0.87932	D	0	.	17.1485	0.86772	0.0:1.0:0.0:0.0	.	377;401	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	S	377;401	ENSP00000369670:P377S;ENSP00000298386:P401S	ENSP00000298386:P401S	P	+	1	0	RXFP2	31263998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.906000	0.69900	2.661000	0.90470	0.655000	0.94253	CCC		0.393	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806	
FRY	10129	broad.mit.edu	37	13	32691505	32691505	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32691505G>A	ENST00000380250.3	+	4	855	c.359G>A	c.(358-360)tGc>tAc	p.C120Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	120						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C120Y(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCTGAGTACTGCCTGCCTTCC	0.393																																					p.C120Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G359A	13						.						102.0	96.0	98.0					13																	32691505		1913	4146	6059	31589505	SO:0001583	missense	10129	exon4			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.359G>A	13.37:g.32691505G>A	ENSP00000369600:p.Cys120Tyr		31589505	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759896	0.89932	.	.	ENSG00000073910	ENST00000380250;ENST00000436046;ENST00000267067	T	0.25250	1.81	5.13	5.13	0.70059	.	0.051991	0.85682	D	0.000000	T	0.37625	0.1010	M	0.84082	2.675	0.80722	D	1	P	0.37466	0.596	B	0.35971	0.215	T	0.48670	-0.9015	10	0.87932	D	0	.	18.9435	0.92612	0.0:0.0:1.0:0.0	.	120	Q5TBA9	FRY_HUMAN	Y	120;117;86	ENSP00000369600:C120Y	ENSP00000267067:C86Y	C	+	2	0	FRY	31589505	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.311000	0.96282	2.533000	0.85409	0.655000	0.94253	TGC		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32705932	32705932	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32705932G>T	ENST00000380250.3	+	8	1336	c.840G>T	c.(838-840)aaG>aaT	p.K280N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	280						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K280N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCGAATTAAGATGTATCCAG	0.423																																					p.K280N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G840T	13						.						142.0	128.0	132.0					13																	32705932		1848	4109	5957	31603932	SO:0001583	missense	10129	exon8			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.840G>T	13.37:g.32705932G>T	ENSP00000369600:p.Lys280Asn		31603932	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820551	0.71028	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.30981	1.51	5.8	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.80982	2.52	0.80722	D	1	P	0.51147	0.942	P	0.57244	0.816	T	0.60571	-0.7237	10	0.87932	D	0	.	13.575	0.61868	0.1471:0.0:0.8529:0.0	.	280	Q5TBA9	FRY_HUMAN	N	280;208	ENSP00000369600:K280N	ENSP00000267067:K208N	K	+	3	2	FRY	31603932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.231000	0.51294	1.460000	0.47911	-0.145000	0.13849	AAG		0.423	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32721488	32721488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32721488C>T	ENST00000380250.3	+	12	1745	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	417						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R417*(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTACATGATTCGAATTAAATG	0.403																																					p.R417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1249T	13						.						95.0	90.0	91.0					13																	32721488		1869	4117	5986	31619488	SO:0001587	stop_gained	10129	exon12			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1249C>T	13.37:g.32721488C>T	ENSP00000369600:p.Arg417*		31619488	NM_023037	Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	43	10.226233	0.99364	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.35	3.29	0.37713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0336	0.58856	0.4036:0.5964:0.0:0.0	.	.	.	.	X	417;345	.	ENSP00000267067:R345X	R	+	1	2	FRY	31619488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.202000	0.32271	1.365000	0.46057	0.561000	0.74099	CGA		0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32745149	32745149	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32745149G>A	ENST00000380250.3	+	18	2389	c.1893G>A	c.(1891-1893)agG>agA	p.R631R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	631						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R631R(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGTTTCACAGGCTCTCTATTC	0.323																																					p.R631R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1893A	13						.						119.0	110.0	113.0					13																	32745149		1821	4077	5898	31643149	SO:0001630	splice_region_variant	10129	exon18			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1893-1G>A	13.37:g.32745149G>A			31643149	NM_023037	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.323	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Silent
FRY	10129	broad.mit.edu	37	13	32760504	32760504	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32760504C>T	ENST00000380250.3	+	27	3923	c.3427C>T	c.(3427-3429)Cgt>Tgt	p.R1143C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1143						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R1143C(2)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCTGGATCGTTACAGTGA	0.438																																					p.R1143C												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.C3427T	13						.						156.0	148.0	151.0					13																	32760504		1919	4131	6050	31658504	SO:0001583	missense	10129	exon27			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3427C>T	13.37:g.32760504C>T	ENSP00000369600:p.Arg1143Cys		31658504	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546060	0.86022	.	.	ENSG00000073910	ENST00000380250	T	0.27256	1.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.36504	-0.9745	10	0.87932	D	0	.	19.1621	0.93537	0.0:1.0:0.0:0.0	.	1143	Q5TBA9	FRY_HUMAN	C	1143	ENSP00000369600:R1143C	ENSP00000369600:R1143C	R	+	1	0	FRY	31658504	1.000000	0.71417	0.786000	0.31890	0.996000	0.88848	6.021000	0.70832	2.541000	0.85698	0.585000	0.79938	CGT		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32811625	32811625	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32811625G>A	ENST00000380250.3	+	44	6416	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1974						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E1974K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGCAACTGCCGAACGGAGCCG	0.527																																					p.E1974K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5920A	13						.						61.0	70.0	67.0					13																	32811625		2025	4187	6212	31709625	SO:0001583	missense	10129	exon44			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5920G>A	13.37:g.32811625G>A	ENSP00000369600:p.Glu1974Lys		31709625	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632978	0.47049	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22539	1.95	6.17	5.31	0.75309	.	0.157630	0.56097	D	0.000033	T	0.15176	0.0366	L	0.34521	1.04	0.80722	D	1	P	0.46656	0.882	B	0.32864	0.154	T	0.02661	-1.1127	10	0.29301	T	0.29	.	17.419	0.87510	0.0:0.1245:0.8754:0.0	.	1974	Q5TBA9	FRY_HUMAN	K	1974;811	ENSP00000369600:E1974K	ENSP00000369600:E1974K	E	+	1	0	FRY	31709625	1.000000	0.71417	0.967000	0.41034	0.862000	0.49288	5.712000	0.68407	1.585000	0.49928	0.655000	0.94253	GAA		0.527	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32813960	32813960	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32813960G>A	ENST00000380250.3	+	46	7125	c.6629G>A	c.(6628-6630)cGa>cAa	p.R2210Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R2210Q(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGGTCTGTCGATACCTTCAT	0.418																																					p.R2210Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6629A	13						.						96.0	97.0	96.0					13																	32813960		1973	4166	6139	31711960	SO:0001583	missense	10129	exon46			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6629G>A	13.37:g.32813960G>A	ENSP00000369600:p.Arg2210Gln		31711960	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.862075	0.97036	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.23348	1.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.16424	-1.0403	10	0.25751	T	0.34	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2210	Q5TBA9	FRY_HUMAN	Q	2210;1047	ENSP00000369600:R2210Q	ENSP00000369600:R2210Q	R	+	2	0	FRY	31711960	1.000000	0.71417	0.680000	0.29994	0.991000	0.79684	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CGA		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
BRCA2	675	broad.mit.edu	37	13	32893291	32893291	+	Nonsense_Mutation	SNP	G	G	T	rs80358435		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32893291G>T	ENST00000380152.3	+	3	378	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.E49*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	49					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E49*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACCTGCAGAAGAATCTGAACA	0.328			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.E49X	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G145T	13	GRCh37	CM011914	BRCA2	M	rs80358435	.						68.0	74.0	72.0					13																	32893291		2203	4300	6503	31791291	SO:0001587	stop_gained	675	exon3	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.145G>T	13.37:g.32893291G>T	ENSP00000369497:p.Glu49*		31791291	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287904	0.80803	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	.	.	.	5.69	5.69	0.88448	.	0.253957	0.34460	N	0.003947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.7521	0.77994	0.0:0.0:0.863:0.137	.	.	.	.	X	49;49;47	.	ENSP00000369497:E49X	E	+	1	0	BRCA2	31791291	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	3.549000	0.53681	2.840000	0.97914	0.655000	0.94253	GAA		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32906983	32906983	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32906983G>T	ENST00000380152.3	+	10	1601	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	BRCA2_ENST00000544455.1_Missense_Mutation_p.E456D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	456					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E456D(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAATCAGAGAAGCCATTAA	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.E456D	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1368T	13						.						62.0	71.0	68.0					13																	32906983		2201	4296	6497	31804983	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1368G>T	13.37:g.32906983G>T	ENSP00000369497:p.Glu456Asp		31804983	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291123	0.40494	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00864	5.6;5.6	4.87	1.93	0.25924	.	0.378221	0.22354	N	0.061177	T	0.02418	0.0074	M	0.62723	1.935	0.21355	N	0.999712	P;D	0.62365	0.849;0.991	B;P	0.56163	0.321;0.793	T	0.39333	-0.9619	10	0.59425	D	0.04	.	7.2268	0.26020	0.4724:0.0:0.5276:0.0	.	456;456	P51587;A1YBP1	BRCA2_HUMAN;.	D	456;456;454	ENSP00000369497:E456D;ENSP00000439902:E456D	ENSP00000369497:E456D	E	+	3	2	BRCA2	31804983	0.315000	0.24571	0.203000	0.23512	0.231000	0.25187	0.304000	0.19228	0.229000	0.21039	0.655000	0.94253	GAG		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32914129	32914129	+	Missense_Mutation	SNP	G	G	T	rs276174860		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32914129G>T	ENST00000380152.3	+	11	5870	c.5637G>T	c.(5635-5637)gaG>gaT	p.E1879D	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1879D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1879					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.E1879D(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAACGAGAATAAATCAA	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.E1879D	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5637T	13						.						43.0	42.0	42.0					13																	32914129		2203	4300	6503	31812129	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5637G>T	13.37:g.32914129G>T	ENSP00000369497:p.Glu1879Asp		31812129	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054917	0.19907	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.74421	-0.84;-0.84	5.71	1.97	0.26223	.	0.683613	0.14324	N	0.326794	T	0.64416	0.2596	L	0.56769	1.78	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.58194	-0.7679	10	0.62326	D	0.03	.	1.4906	0.02456	0.2015:0.1217:0.426:0.2508	.	1879	P51587	BRCA2_HUMAN	D	1879	ENSP00000369497:E1879D;ENSP00000439902:E1879D	ENSP00000369497:E1879D	E	+	3	2	BRCA2	31812129	0.249000	0.23941	0.000000	0.03702	0.009000	0.06853	1.082000	0.30803	0.058000	0.16222	-0.145000	0.13849	GAG		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32914542	32914542	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32914542A>C	ENST00000380152.3	+	11	6283	c.6050A>C	c.(6049-6051)aAa>aCa	p.K2017T	BRCA2_ENST00000544455.1_Missense_Mutation_p.K2017T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2017					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.K2017T(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTATTGTTTAAAAGTAACGAA	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.K2017T	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6050C	13						.						56.0	59.0	58.0					13																	32914542		2202	4297	6499	31812542	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6050A>C	13.37:g.32914542A>C	ENSP00000369497:p.Lys2017Thr		31812542	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	2.641	-0.284142	0.05642	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00753	5.74;5.74	5.54	1.62	0.23740	.	0.287341	0.30260	N	0.010034	T	0.00608	0.0020	N	0.25485	0.75	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.49978	-0.8881	10	0.51188	T	0.08	.	2.4527	0.04522	0.5265:0.2321:0.1295:0.1119	.	2017	P51587	BRCA2_HUMAN	T	2017	ENSP00000369497:K2017T;ENSP00000439902:K2017T	ENSP00000369497:K2017T	K	+	2	0	BRCA2	31812542	0.018000	0.18449	0.000000	0.03702	0.018000	0.09664	1.955000	0.40372	0.049000	0.15920	-0.291000	0.09656	AAA		0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32915144	32915144	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32915144G>T	ENST00000380152.3	+	11	6885	c.6652G>T	c.(6652-6654)Gat>Tat	p.D2218Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.D2218Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2218					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.D2218Y(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTACTCCAAAGATTCAGAAAA	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.D2218Y	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6652T	13	GRCh37	CI004794	BRCA2	I		.						63.0	66.0	65.0					13																	32915144		2203	4300	6503	31813144	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6652G>T	13.37:g.32915144G>T	ENSP00000369497:p.Asp2218Tyr		31813144	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150458	0.57151	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80738	-1.41;-1.41	5.42	5.42	0.78866	.	0.264614	0.32593	N	0.005885	D	0.85212	0.5645	M	0.68317	2.08	0.25743	N	0.985132	D	0.76494	0.999	P	0.61328	0.887	T	0.78952	-0.2001	10	0.66056	D	0.02	.	8.3602	0.32355	0.1339:0.0:0.8661:0.0	.	2218	P51587	BRCA2_HUMAN	Y	2218	ENSP00000369497:D2218Y;ENSP00000439902:D2218Y	ENSP00000369497:D2218Y	D	+	1	0	BRCA2	31813144	0.912000	0.30974	0.925000	0.36789	0.927000	0.56198	1.149000	0.31626	2.546000	0.85860	0.591000	0.81541	GAT		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32915220	32915220	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32915220C>A	ENST00000380152.3	+	11	6961	c.6728C>A	c.(6727-6729)tCt>tAt	p.S2243Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.S2243Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2243					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2243Y(2)|p.S2243C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGACAGATTCTAAACTGCCA	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.S2243Y	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C6728A	13						.						116.0	119.0	118.0					13																	32915220		2203	4300	6503	31813220	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6728C>A	13.37:g.32915220C>A	ENSP00000369497:p.Ser2243Tyr		31813220	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891798	0.33442	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.83992	-1.79;-1.79	5.71	1.1	0.20463	.	0.353820	0.26711	N	0.022894	D	0.84737	0.5538	M	0.69823	2.125	0.36311	D	0.85767	D	0.55605	0.972	P	0.53649	0.731	D	0.85252	0.1045	10	0.72032	D	0.01	.	8.6659	0.34121	0.0:0.6384:0.0:0.3616	.	2243	P51587	BRCA2_HUMAN	Y	2243	ENSP00000369497:S2243Y;ENSP00000439902:S2243Y	ENSP00000369497:S2243Y	S	+	2	0	BRCA2	31813220	0.102000	0.21896	0.897000	0.35233	0.256000	0.26092	0.206000	0.17375	0.091000	0.17302	-0.136000	0.14681	TCT		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32953980	32953980	+	Missense_Mutation	SNP	C	C	A	rs80359736		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:32953980C>A	ENST00000380152.3	+	23	9280	c.9047C>A	c.(9046-9048)tCt>tAt	p.S3016Y	BRCA2_ENST00000544455.1_Missense_Mutation_p.S3016Y			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3016					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S3016Y(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTCAAAATCTAAAAGTAAA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.S3016Y	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9047A	13						.						51.0	51.0	51.0					13																	32953980		2203	4294	6497	31851980	SO:0001583	missense	675	exon23	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9047C>A	13.37:g.32953980C>A	ENSP00000369497:p.Ser3016Tyr		31851980	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793373	0.70452	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.73681	-0.77;-0.77	5.66	5.66	0.87406	Nucleic acid-binding, OB-fold-like (1);	0.186310	0.48286	D	0.000182	D	0.86957	0.6058	M	0.77616	2.38	0.39957	D	0.974613	D	0.89917	1.0	D	0.75020	0.985	D	0.87177	0.2225	10	0.54805	T	0.06	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	3016	P51587	BRCA2_HUMAN	Y	3016	ENSP00000369497:S3016Y;ENSP00000439902:S3016Y	ENSP00000369497:S3016Y	S	+	2	0	BRCA2	31851980	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.344000	0.52174	2.827000	0.97445	0.655000	0.94253	TCT		0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
N4BP2L2	10443	broad.mit.edu	37	13	33017983	33017983	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33017983C>A	ENST00000504114.1	-	6	737	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.D216Y|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D231Y|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.D231Y(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTTTAGGATCTTTATTTTTC	0.328																																					p.D231Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691T	13						.						71.0	65.0	67.0					13																	33017983		1823	4070	5893	31915983	SO:0001583	missense	10443	exon7			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.646G>T	13.37:g.33017983C>A	ENSP00000427477:p.Asp216Tyr		31915983	NM_033111	A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37		.	.	.	.	.	.	.	.	.	.	C	11.87	1.767748	0.31320	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.47528	0.84	4.6	-2.22	0.06952	.	1.779970	0.02634	N	0.104633	T	0.31136	0.0787	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.23249	0.02;0.02;0.082;0.082	B;B;B;B	0.20384	0.029;0.029;0.029;0.029	T	0.14531	-1.0469	10	0.49607	T	0.09	-0.0027	2.7214	0.05202	0.1308:0.4694:0.1309:0.2688	.	216;231;114;114	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	Y	114;143;216;216;231;660	ENSP00000423362:D660Y	ENSP00000350104:D216Y	D	-	1	0	N4BP2L2;RP11-298P3.4	31915983	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.760000	0.04756	-0.486000	0.06744	0.655000	0.94253	GAT		0.328	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887	
N4BP2L2	10443	broad.mit.edu	37	13	33092079	33092079	+	Missense_Mutation	SNP	G	G	T	rs11556385		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33092079G>T	ENST00000267068.3	-	6	1776	c.1612C>A	c.(1612-1614)Caa>Aaa	p.Q538K	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.Q94K|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Q109K|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.Q538K|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.Q94K	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	538					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q538K(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGGACATTTGATATTCATAA	0.408																																					p.Q538K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1612A	13						.						144.0	134.0	137.0					13																	33092079		2203	4300	6503	31990079	SO:0001583	missense	10443	exon6			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1612C>A	13.37:g.33092079G>T	ENSP00000267068:p.Gln538Lys		31990079	NM_014887	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437469	0.43224	.	.	ENSG00000244754	ENST00000504114;ENST00000357505;ENST00000399396;ENST00000446957;ENST00000505213;ENST00000267068	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.17	-0.522	0.11928	.	0.805990	0.10334	N	0.687157	T	0.25158	0.0611	N	0.22421	0.69	0.22989	N	0.99847	B;P;B;B	0.35872	0.244;0.525;0.022;0.003	B;B;B;B	0.36092	0.217;0.164;0.038;0.004	T	0.19224	-1.0312	10	0.51188	T	0.08	-0.3672	11.4628	0.50221	0.0:0.4635:0.3151:0.2213	.	94;109;538;538	B4DPY1;Q92802-3;Q92802;Q92802-2	.;.;N42L2_HUMAN;.	K	94;94;109;538;538;538	ENSP00000427477:Q94K;ENSP00000350104:Q94K;ENSP00000382328:Q109K;ENSP00000394239:Q538K;ENSP00000423362:Q538K;ENSP00000267068:Q538K	ENSP00000267068:Q538K	Q	-	1	0	N4BP2L2	31990079	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.892000	0.48625	-0.038000	0.13624	0.563000	0.77884	CAA		0.408	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887	
PDS5B	23047	broad.mit.edu	37	13	33316753	33316753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33316753C>T	ENST00000315596.10	+	23	2686	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	834					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R834*(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATGGTTCGATGGCTACT	0.308																																					p.R834X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2500T	13						.						115.0	104.0	107.0					13																	33316753		1829	4087	5916	32214753	SO:0001587	stop_gained	23047	exon23			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2500C>T	13.37:g.33316753C>T	ENSP00000313851:p.Arg834*		32214753	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	40	8.066114	0.98638	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.93	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0597	15.133	0.72539	0.0:0.9324:0.0:0.0676	.	.	.	.	X	834	.	ENSP00000313851:R834X	R	+	1	2	PDS5B	32214753	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.703000	0.54808	1.518000	0.48934	0.591000	0.81541	CGA		0.308	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
PDS5B	23047	broad.mit.edu	37	13	33344644	33344644	+	Missense_Mutation	SNP	C	C	T	rs201933867		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33344644C>T	ENST00000315596.10	+	32	4196	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1337					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.T1337M(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGTGGAAATACGGAACAGAAG	0.413																																					p.T1337M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4010T	13						.	C	MET/THR	6,3950		0,6,1972	41.0	41.0	41.0		4010	-0.7	0.0	13		41	0,8342		0,0,4171	yes	missense	PDS5B	NM_015032.3	81	0,6,6143	TT,TC,CC		0.0,0.1517,0.0488	benign	1337/1448	33344644	6,12292	1978	4171	6149	32242644	SO:0001583	missense	23047	exon32			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4010C>T	13.37:g.33344644C>T	ENSP00000313851:p.Thr1337Met		32242644	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	2.670	-0.277819	0.05679	0.001517	0.0	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	5.98	-0.729	0.11158	.	1.042960	0.07435	N	0.896396	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	9	0.44086	T	0.13	-3.2909	5.8458	0.18665	0.0:0.2575:0.1535:0.5889	.	1337	Q9NTI5	PDS5B_HUMAN	M	1337;289	.	ENSP00000313851:T1337M	T	+	2	0	PDS5B	32242644	0.009000	0.17119	0.000000	0.03702	0.161000	0.22273	1.963000	0.40452	-0.075000	0.12798	-0.224000	0.12420	ACG		0.413	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
KL	9365	broad.mit.edu	37	13	33635145	33635145	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33635145G>A	ENST00000380099.3	+	4	1937	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	643	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.P643P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTATGGCCCCGAACCAAGGAC	0.627																																					p.P643P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1929A	13						.						48.0	50.0	49.0					13																	33635145		2203	4300	6503	32533145	SO:0001819	synonymous_variant	9365	exon4			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1929G>A	13.37:g.33635145G>A			32533145	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.627	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
KL	9365	broad.mit.edu	37	13	33635558	33635558	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33635558G>T	ENST00000380099.3	+	4	2350	c.2342G>T	c.(2341-2343)aGa>aTa	p.R781I	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	781	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.R781I(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTGAACCAAAGAAACAATTTT	0.428																																					p.R781I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2342T	13						.						63.0	65.0	64.0					13																	33635558		2203	4300	6503	32533558	SO:0001583	missense	9365	exon4			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2342G>T	13.37:g.33635558G>T	ENSP00000369442:p.Arg781Ile		32533558	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788023	0.31593	.	.	ENSG00000133116	ENST00000380099	T	0.34667	1.35	5.91	3.2	0.36748	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.364000	0.32068	N	0.006637	T	0.35998	0.0951	M	0.70787	2.145	0.21147	N	0.999774	B	0.18166	0.026	B	0.27715	0.082	T	0.40961	-0.9535	10	0.87932	D	0	-14.6806	5.7527	0.18156	0.2789:0.0:0.5912:0.1299	.	781	Q9UEF7	KLOT_HUMAN	I	781	ENSP00000369442:R781I	ENSP00000369442:R781I	R	+	2	0	KL	32533558	0.680000	0.27605	0.008000	0.14137	0.927000	0.56198	1.458000	0.35223	0.819000	0.34492	0.655000	0.94253	AGA		0.428	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
KL	9365	broad.mit.edu	37	13	33638124	33638124	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33638124T>G	ENST00000380099.3	+	5	2848	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	947	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.I947S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACAGGAAAATTATTGACAGC	0.458																																					p.I947S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2840G	13						.						124.0	124.0	124.0					13																	33638124		2203	4300	6503	32536124	SO:0001583	missense	9365	exon5			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2840T>G	13.37:g.33638124T>G	ENSP00000369442:p.Ile947Ser		32536124	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122698	0.77436	.	.	ENSG00000133116	ENST00000380099	T	0.36157	1.27	5.52	5.52	0.82312	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.111045	0.64402	D	0.000011	T	0.66509	0.2796	M	0.88842	2.985	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	T	0.74219	-0.3736	10	0.87932	D	0	-10.3003	15.6637	0.77209	0.0:0.0:0.0:1.0	.	947	Q9UEF7	KLOT_HUMAN	S	947	ENSP00000369442:I947S	ENSP00000369442:I947S	I	+	2	0	KL	32536124	1.000000	0.71417	0.817000	0.32601	0.950000	0.60333	7.348000	0.79366	2.095000	0.63458	0.533000	0.62120	ATT		0.458	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
KL	9365	broad.mit.edu	37	13	33638278	33638278	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:33638278C>A	ENST00000380099.3	+	5	3002	c.2994C>A	c.(2992-2994)tcC>tcA	p.S998S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	998					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.S998S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTTCTCTCTCCCTTATATTTT	0.328																																					p.S998S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2994A	13						.						45.0	47.0	46.0					13																	33638278		2203	4299	6502	32536278	SO:0001819	synonymous_variant	9365	exon5			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2994C>A	13.37:g.33638278C>A			32536278	NM_004795	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	CCDS9347.1																																																																																				0.328	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		
NBEA	26960	broad.mit.edu	37	13	35734058	35734058	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:35734058A>C	ENST00000400445.3	+	22	4284	c.3750A>C	c.(3748-3750)aaA>aaC	p.K1250N	NBEA_ENST00000540320.1_Missense_Mutation_p.K1250N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1250N|NBEA_ENST00000310336.4_Missense_Mutation_p.K1250N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1250					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.K1250N(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTAGCAAAATTGTACCAA	0.383																																					p.K1250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3750C	13						.						41.0	44.0	43.0					13																	35734058		1849	4086	5935	34632058	SO:0001583	missense	26960	exon22			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3750A>C	13.37:g.35734058A>C	ENSP00000383295:p.Lys1250Asn		34632058	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050361	0.36181	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.91	4.74	0.60224	.	0.105676	0.64402	D	0.000007	T	0.40067	0.1102	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15037	-1.0451	10	0.34782	T	0.22	.	11.7143	0.51643	0.9314:0.0:0.0686:0.0	.	1250	Q5T321	.	N	1250	ENSP00000440951:K1250N;ENSP00000383295:K1250N;ENSP00000369271:K1250N;ENSP00000308534:K1250N	ENSP00000308534:K1250N	K	+	3	2	NBEA	34632058	0.992000	0.36948	0.926000	0.36857	0.967000	0.64934	2.556000	0.45862	1.072000	0.40860	0.528000	0.53228	AAA		0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	35758155	35758155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:35758155G>T	ENST00000400445.3	+	30	5408	c.4874G>T	c.(4873-4875)gGa>gTa	p.G1625V	NBEA_ENST00000540320.1_Missense_Mutation_p.G1625V|NBEA_ENST00000379939.2_Missense_Mutation_p.G1622V|NBEA_ENST00000310336.4_Missense_Mutation_p.G1625V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1625					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.G1625V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGAACCATGGATTCCTTGCC	0.418																																					p.G1625V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4874T	13						.						123.0	111.0	115.0					13																	35758155		1893	4124	6017	34656155	SO:0001583	missense	26960	exon30			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4874G>T	13.37:g.35758155G>T	ENSP00000383295:p.Gly1625Val		34656155	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915398	0.52546	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.49432	0.78;0.79;0.79;0.78	5.82	5.82	0.92795	.	0.165336	0.43747	D	0.000532	T	0.49406	0.1555	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.50783	-0.8787	10	0.23891	T	0.37	.	18.2756	0.90081	0.0:0.0:1.0:0.0	.	1622	Q5T321	.	V	1625;1625;1622;1625	ENSP00000440951:G1625V;ENSP00000383295:G1625V;ENSP00000369271:G1622V;ENSP00000308534:G1625V	ENSP00000308534:G1625V	G	+	2	0	NBEA	34656155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.069000	0.71209	2.753000	0.94483	0.467000	0.42956	GGA		0.418	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	35770201	35770201	+	Missense_Mutation	SNP	G	G	A	rs561239166		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:35770201G>A	ENST00000400445.3	+	31	5662	c.5128G>A	c.(5128-5130)Gaa>Aaa	p.E1710K	NBEA_ENST00000540320.1_Missense_Mutation_p.E1710K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1707K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1710K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1710					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.E1710K(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGTCATCCGAAGTGAAGAA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		16523	0.0		0.0	False		,,,				2504	0.001				p.E1710K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5128A	13						.						86.0	84.0	85.0					13																	35770201		1885	4126	6011	34668201	SO:0001583	missense	26960	exon31			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5128G>A	13.37:g.35770201G>A	ENSP00000383295:p.Glu1710Lys		34668201	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547129	0.65311	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.48642	1.525	0.80722	D	1	B;D	0.55385	0.181;0.971	B;B	0.44163	0.009;0.443	T	0.51252	-0.8729	10	0.23891	T	0.37	.	20.0979	0.97857	0.0:0.0:1.0:0.0	.	1710;1707	Q8NFP9;Q5T321	NBEA_HUMAN;.	K	1710;1710;1707;1710;337	ENSP00000440951:E1710K;ENSP00000383295:E1710K;ENSP00000369271:E1707K;ENSP00000308534:E1710K	ENSP00000308534:E1710K	E	+	1	0	NBEA	34668201	1.000000	0.71417	0.966000	0.40874	0.949000	0.60115	7.362000	0.79507	2.767000	0.95098	0.585000	0.79938	GAA		0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	36006473	36006473	+	Missense_Mutation	SNP	C	C	T	rs200761216		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:36006473C>T	ENST00000400445.3	+	39	6781	c.6247C>T	c.(6247-6249)Cgc>Tgc	p.R2083C	NBEA_ENST00000540320.1_Missense_Mutation_p.R2083C|NBEA_ENST00000379939.2_Missense_Mutation_p.R2080C|NBEA_ENST00000310336.4_Missense_Mutation_p.R2083C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2083					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R2083C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGATTTGTTCGCAATGCATT	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15220	0.0		0.0	False		,,,				2504	0.0				p.R2083C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6247T	13						.						121.0	108.0	112.0					13																	36006473		1904	4110	6014	34904473	SO:0001583	missense	26960	exon39			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6247C>T	13.37:g.36006473C>T	ENSP00000383295:p.Arg2083Cys		34904473	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.6	4.549374	0.86127	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.72	5.72	0.89469	Domain of unknown function DUF1088 (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.73043	-0.4107	10	0.87932	D	0	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	2083;2080	Q8NFP9;Q5T321	NBEA_HUMAN;.	C	2083;2083;2080;2083;710	ENSP00000440951:R2083C;ENSP00000383295:R2083C;ENSP00000369271:R2080C;ENSP00000308534:R2083C	ENSP00000308534:R2083C	R	+	1	0	NBEA	34904473	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.921000	0.48852	2.695000	0.91970	0.655000	0.94253	CGC		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
MAB21L1	4081	broad.mit.edu	37	13	36050171	36050171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:36050171G>T	ENST00000379919.4	-	1	661	c.105C>A	c.(103-105)tgC>tgA	p.C35*	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	35					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.C35*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AAACTACTTTGCAGACTTCCC	0.517																																					p.C35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C105A	13						.						104.0	106.0	105.0					13																	36050171		2203	4300	6503	34948171	SO:0001587	stop_gained	4081	exon1			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.105C>A	13.37:g.36050171G>T	ENSP00000369251:p.Cys35*		34948171	NM_005584	Q6I9T5	Nonsense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	41	8.542897	0.98857	.	.	ENSG00000180660	ENST00000379919	.	.	.	5.76	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.745	0.69483	0.0693:0.0:0.9307:0.0	.	.	.	.	X	35	.	ENSP00000369251:C35X	C	-	3	2	MAB21L1	34948171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.796000	0.75145	1.459000	0.47892	0.655000	0.94253	TGC		0.517	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584	
DCLK1	9201	broad.mit.edu	37	13	36367513	36367513	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:36367513G>T	ENST00000360631.3	-	16	2259	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	DCLK1_ENST00000255448.4_Missense_Mutation_p.S683Y|DCLK1_ENST00000379893.1_Missense_Mutation_p.S376Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	683					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S683Y(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCTATGACAGAAACTCCAGC	0.443																																					p.S376Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1127A	13						.						201.0	195.0	197.0					13																	36367513		2203	4300	6503	35265513	SO:0001583	missense	9201	exon12			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2048C>A	13.37:g.36367513G>T	ENSP00000353846:p.Ser683Tyr		35265513	NM_001195416	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	19.53	3.844432	0.71488	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	T;T;T	0.69175	-0.38;-0.34;-0.36	5.49	5.49	0.81192	Protein kinase-like domain (1);	0.119626	0.64402	D	0.000016	T	0.76615	0.4012	L	0.57536	1.79	0.80722	D	1	D;P;D;P	0.55385	0.966;0.885;0.971;0.813	P;P;P;P	0.61800	0.876;0.691;0.894;0.674	T	0.78383	-0.2225	10	0.72032	D	0.01	.	14.2495	0.66011	0.0:0.0:0.8511:0.1489	.	376;683;683;376	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	Y	375;683;683;376	ENSP00000255448:S683Y;ENSP00000353846:S683Y;ENSP00000369223:S376Y	ENSP00000255448:S683Y	S	-	2	0	DCLK1	35265513	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.392000	0.79840	2.575000	0.86900	0.650000	0.86243	TCT		0.443	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
DCLK1	9201	broad.mit.edu	37	13	36396965	36396965	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:36396965C>A	ENST00000360631.3	-	11	1666	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	DCLK1_ENST00000255448.4_Missense_Mutation_p.E485D|DCLK1_ENST00000379893.1_Missense_Mutation_p.E178D			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.E485D(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGGCGTCTCTCTCGGTGTATT	0.522																																					p.E178D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G534T	13						.						210.0	181.0	191.0					13																	36396965		2203	4300	6503	35294965	SO:0001583	missense	9201	exon7			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1455G>T	13.37:g.36396965C>A	ENSP00000353846:p.Glu485Asp		35294965	NM_001195416	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	16.44	3.125156	0.56721	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	T;T;T	0.50001	0.76;0.76;0.76	5.84	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.71303	-0.4633	10	0.87932	D	0	.	11.1118	0.48237	0.0:0.8013:0.0:0.1987	.	178;485;178	O15075-4;O15075-2;O15075-3	.;.;.	D	177;485;485;178	ENSP00000255448:E485D;ENSP00000353846:E485D;ENSP00000369223:E178D	ENSP00000255448:E485D	E	-	3	2	DCLK1	35294965	1.000000	0.71417	0.988000	0.46212	0.184000	0.23303	3.318000	0.51975	0.407000	0.25591	-0.140000	0.14226	GAG		0.522	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SPG20	23111	broad.mit.edu	37	13	36878765	36878765	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:36878765C>T	ENST00000451493.1	-	9	1955	c.1738G>A	c.(1738-1740)Gga>Aga	p.G580R	SPG20_ENST00000355182.4_Missense_Mutation_p.G580R|SPG20_ENST00000438666.2_Missense_Mutation_p.G580R|SPG20_ENST00000494062.2_Missense_Mutation_p.G580R	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	580					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.G580R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GCATTATATCCGTATCTTTAA	0.338																																					p.G580R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1738A	13						.						76.0	66.0	70.0					13																	36878765		2203	4300	6503	35776765	SO:0001583	missense	23111	exon9			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1738G>A	13.37:g.36878765C>T	ENSP00000414147:p.Gly580Arg		35776765	NM_001142295	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559805	0.45590	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.98585	-5.01;-5.01;-5.01	4.86	4.02	0.46733	Senescence/spartin-associated (1);	0.113535	0.64402	D	0.000012	D	0.98585	0.9527	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99425	1.0934	10	0.87932	D	0	-9.1554	13.2441	0.60014	0.0:0.9225:0.0:0.0775	.	580;580	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	R	580	ENSP00000406061:G580R;ENSP00000347314:G580R;ENSP00000414147:G580R	ENSP00000347314:G580R	G	-	1	0	SPG20	35776765	1.000000	0.71417	0.377000	0.26055	0.013000	0.08279	7.202000	0.77856	1.188000	0.43014	0.591000	0.81541	GGA		0.338	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
CCNA1	8900	broad.mit.edu	37	13	37006787	37006787	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37006787A>G	ENST00000255465.4	+	1	293	c.29A>G	c.(28-30)tAc>tGc	p.Y10C	CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000418263.1_Missense_Mutation_p.Y10C|CCNA1_ENST00000440264.1_Intron			P78396	CCNA1_HUMAN	cyclin A1	10					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.Y10C(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCAATCATGTACCCTGGATCT	0.592																																					p.Y10C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A29G	13						.						49.0	47.0	47.0					13																	37006787		2203	4300	6503	35904787	SO:0001583	missense	8900	exon1			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.29A>G	13.37:g.37006787A>G	ENSP00000255465:p.Tyr10Cys		35904787	NM_003914	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.272739	0.23221	.	.	ENSG00000133101	ENST00000418263;ENST00000255465	T;T	0.15139	2.45;2.45	2.9	0.242	0.15498	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.31724	-0.9933	9	0.87932	D	0	.	4.8886	0.13715	0.706:0.0:0.294:0.0	.	10;10	P78396-2;P78396	.;CCNA1_HUMAN	C	10	ENSP00000396479:Y10C;ENSP00000255465:Y10C	ENSP00000255465:Y10C	Y	+	2	0	CCNA1	35904787	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	-0.080000	0.11339	-0.031000	0.13781	-0.441000	0.05720	TAC		0.592	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
CCNA1	8900	broad.mit.edu	37	13	37007242	37007242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37007242C>T	ENST00000255465.4	+	2	445	c.181C>T	c.(181-183)Cga>Tga	p.R61*	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Nonsense_Mutation_p.R17*|CCNA1_ENST00000418263.1_Nonsense_Mutation_p.R60*|CCNA1_ENST00000440264.1_Nonsense_Mutation_p.R17*			P78396	CCNA1_HUMAN	cyclin A1	61					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.R61*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACAGTGGCCCGAGGTCCCGA	0.587																																					p.R17X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C49T	13						.						97.0	95.0	96.0					13																	37007242		2203	4300	6503	35905242	SO:0001587	stop_gained	8900	exon2			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.181C>T	13.37:g.37007242C>T	ENSP00000255465:p.Arg61*		35905242	NM_001111047	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Nonsense_Mutation	SNP	ENST00000255465.4	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	C	37	6.340452	0.97489	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	4.63	0.705	0.18127	.	0.950360	0.08634	N	0.916536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6457	0.39865	0.137:0.3797:0.4833:0.0	.	.	.	.	X	17;17;60;61	.	ENSP00000255465:R61X	R	+	1	2	CCNA1	35905242	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	-0.263000	0.08670	-0.145000	0.11294	-0.280000	0.10049	CGA		0.587	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
SERTM1	400120	broad.mit.edu	37	13	37269376	37269376	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37269376T>G	ENST00000315190.3	+	2	607	c.161T>G	c.(160-162)tTt>tGt	p.F54C		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	54						integral component of membrane (GO:0016021)		p.F54C(1)									CTTTTAGCGTTTCTGCTTCTG	0.493																																					p.F54C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T161G	13						.						244.0	213.0	223.0					13																	37269376		2203	4300	6503	36167376	SO:0001583	missense	400120	exon2				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.161T>G	13.37:g.37269376T>G	ENSP00000325776:p.Phe54Cys		36167376	NM_203451	Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046932	0.55110	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.19	5.19	0.71726	.	0.051852	0.85682	D	0.000000	T	0.52517	0.1739	N	0.14661	0.345	0.51012	D	0.999909	D	0.65815	0.995	P	0.59889	0.865	T	0.60767	-0.7198	9	0.87932	D	0	-30.9059	14.2351	0.65922	0.0:0.0:0.0:1.0	.	54	A2A2V5	SRTM1_HUMAN	C	54	.	ENSP00000325776:F54C	F	+	2	0	SERTM1	36167376	1.000000	0.71417	0.843000	0.33291	0.964000	0.63967	7.293000	0.78740	1.946000	0.56461	0.460000	0.39030	TTT		0.493	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	
SERTM1	400120	broad.mit.edu	37	13	37269535	37269535	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37269535C>A	ENST00000315190.3	+	2	766	c.320C>A	c.(319-321)tCc>tAc	p.S107Y		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	107						integral component of membrane (GO:0016021)		p.S107Y(1)									AACCTTTCATCCTGAGGAAAA	0.468																																					p.S107Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320A	13						.						49.0	50.0	49.0					13																	37269535		2203	4300	6503	36167535	SO:0001583	missense	400120	exon2				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.320C>A	13.37:g.37269535C>A	ENSP00000325776:p.Ser107Tyr		36167535	NM_203451	Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938761	0.52972	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.28	5.28	0.74379	.	0.233501	0.37348	N	0.002136	T	0.36826	0.0981	N	0.14661	0.345	0.40245	D	0.978002	P	0.43352	0.804	B	0.35413	0.202	T	0.48896	-0.8994	9	0.87932	D	0	.	17.9066	0.88920	0.0:1.0:0.0:0.0	.	107	A2A2V5	SRTM1_HUMAN	Y	107	.	ENSP00000325776:S107Y	S	+	2	0	SERTM1	36167535	0.956000	0.32656	0.624000	0.29186	0.727000	0.41649	3.939000	0.56591	2.445000	0.82738	0.557000	0.71058	TCC		0.468	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451	
SMAD9	4093	broad.mit.edu	37	13	37446795	37446795	+	Splice_Site	SNP	C	C	A	rs141672146		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37446795C>A	ENST00000399275.2	-	2	809	c.670G>T	c.(670-672)Gtt>Ttt	p.V224F	SMAD9_ENST00000350148.5_Splice_Site_p.D224Y|SMAD9_ENST00000379826.4_Splice_Site_p.V224F			O15198	SMAD9_HUMAN	SMAD family member 9	224					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.D224Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCTTACTGACCTGAGTGTTGA	0.507																																					p.D224Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G670T	13						.						92.0	82.0	85.0					13																	37446795		2203	4300	6503	36344795	SO:0001630	splice_region_variant	4093	exon3				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.670+1G>T	13.37:g.37446795C>A			36344795	NM_005905	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.605392|3.605392	0.66445|0.66445	.|.	.|.	ENSG00000120693|ENSG00000120693	ENST00000350148|ENST00000399275;ENST00000379826	D|D;D	0.97256|0.94092	-4.31|-3.35;-3.35	5.23|5.23	5.23|5.23	0.72850|0.72850	.|SMAD/FHA domain (1);	.|0.312565	.|0.29853	.|U	.|0.011032	D|D	0.93327|0.93327	0.7873|0.7873	M|M	0.81497|0.81497	2.545|2.545	0.54753|0.54753	D|D	0.999984|0.999984	B|B	0.06786|0.29886	0.001|0.26	B|B	0.11329|0.29942	0.006|0.109	D|D	0.91712|0.91712	0.5382|0.5382	8|9	.|.	.|.	.|.	.|.	18.1363|18.1363	0.89620|0.89620	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|224	O15198-2|O15198	.|SMAD9_HUMAN	Y|F	224|224	ENSP00000239885:D224Y|ENSP00000382216:V224F;ENSP00000369154:V224F	.|.	D|V	-|-	1|1	0|0	SMAD9|SMAD9	36344795|36344795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	7.508000|7.508000	0.81686|0.81686	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	GAC|GTT		0.507	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	Missense_Mutation
ALG5	29880	broad.mit.edu	37	13	37524129	37524129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37524129G>A	ENST00000239891.3	-	10	991	c.925C>T	c.(925-927)Cga>Tga	p.R309*	ALG5_ENST00000443765.1_Nonsense_Mutation_p.R279*	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	309					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.R309*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTCAAATATCGAAGTCGTATA	0.358																																					p.R279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C835T	13						.						85.0	83.0	84.0					13																	37524129		2203	4300	6503	36422129	SO:0001587	stop_gained	29880	exon9			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.925C>T	13.37:g.37524129G>A	ENSP00000239891:p.Arg309*		36422129	NM_001142364	B4DR37|Q5TBA6	Nonsense_Mutation	SNP	ENST00000239891.3	37	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245912	0.80024	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	.	.	.	5.86	5.01	0.66863	.	0.054432	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6453	0.62277	0.0:0.0:0.6013:0.3987	.	.	.	.	X	279;309	.	ENSP00000239891:R309X	R	-	1	2	ALG5	36422129	1.000000	0.71417	0.984000	0.44739	0.927000	0.56198	3.338000	0.52128	1.462000	0.47948	-0.182000	0.12963	CGA		0.358	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338	
SUPT20H	55578	broad.mit.edu	37	13	37598207	37598207	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37598207G>T	ENST00000350612.6	-	19	1776	c.1556C>A	c.(1555-1557)tCt>tAt	p.S519Y	SUPT20H_ENST00000360252.4_Missense_Mutation_p.S520Y|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S519Y|SUPT20H_ENST00000542180.1_Missense_Mutation_p.S483Y|SUPT20H_ENST00000356185.3_Missense_Mutation_p.S520Y|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S520Y	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	519					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.S519Y(1)									GGCAGCTGGAGAAAGCATGCT	0.398																																					p.S520Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559A	13						.						151.0	148.0	149.0					13																	37598207		2203	4300	6503	36496207	SO:0001583	missense	55578	exon19			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1556C>A	13.37:g.37598207G>T	ENSP00000218894:p.Ser519Tyr		36496207	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716528	0.89205	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.55760	0.84;0.5;1.41;0.84;0.84;0.53	5.4	5.4	0.78164	.	0.233439	0.37136	N	0.002225	T	0.65770	0.2723	L	0.57536	1.79	0.58432	D	0.999999	P;P;P;D;D;D;D	0.61080	0.826;0.826;0.894;0.958;0.989;0.958;0.989	P;P;P;P;P;P;P	0.56514	0.451;0.451;0.548;0.535;0.8;0.635;0.8	T	0.66060	-0.6017	10	0.49607	T	0.09	-8.6031	19.189	0.93656	0.0:0.0:1.0:0.0	.	483;519;519;520;520;519;519	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;.;.;FA48A_HUMAN;.	Y	520;519;519;520;519;520;483	ENSP00000353388:S520Y;ENSP00000417510:S519Y;ENSP00000218894:S519Y;ENSP00000348512:S520Y;ENSP00000419754:S520Y;ENSP00000439000:S483Y	ENSP00000218894:S519Y	S	-	2	0	FAM48A	36496207	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.278000	0.89899	2.538000	0.85594	0.655000	0.94253	TCT		0.398	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
SUPT20H	55578	broad.mit.edu	37	13	37599555	37599555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37599555C>A	ENST00000350612.6	-	17	1451	c.1231G>T	c.(1231-1233)Gaa>Taa	p.E411*	SUPT20H_ENST00000360252.4_Nonsense_Mutation_p.E412*|SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.E411*|SUPT20H_ENST00000542180.1_Nonsense_Mutation_p.E375*|SUPT20H_ENST00000356185.3_Nonsense_Mutation_p.E412*|SUPT20H_ENST00000464744.1_Nonsense_Mutation_p.E412*	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	411					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.E411*(1)									TGGACTAATTCTTGGTACTGA	0.383																																					p.E412X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1234T	13						.						115.0	100.0	105.0					13																	37599555		2203	4300	6503	36497555	SO:0001587	stop_gained	55578	exon17			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1231G>T	13.37:g.37599555C>A	ENSP00000218894:p.Glu411*		36497555	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Nonsense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.448995|7.448995	0.98292|0.98292	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.099985|.	0.64402|.	D|.	0.000002|.	.|T	.|0.79764	.|0.4502	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77824	.|-0.2444	.|3	0.52906|.	T|.	0.07|.	-13.1941|-13.1941	19.7654|19.7654	0.96337|0.96337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	412;411;411;412;411;412;375|18	.|.	ENSP00000218894:E411X|.	E|K	-|-	1|3	0|2	FAM48A|FAM48A	36497555|36497555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.544000|0.544000	0.35116|0.35116	6.887000|6.887000	0.75616|0.75616	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.383	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
CSNK1A1L	122011	broad.mit.edu	37	13	37678626	37678626	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:37678626G>A	ENST00000379800.3	-	1	1177	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F256F(2)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTACATGGCGAATTCTGCAG	0.433																																					p.F256F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C768T	13						.						133.0	129.0	130.0					13																	37678626		2203	4300	6503	36576626	SO:0001819	synonymous_variant	122011	exon1			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.768C>T	13.37:g.37678626G>A			36576626	NM_145203	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.433	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
TRPC4	7223	broad.mit.edu	37	13	38211066	38211066	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:38211066C>T	ENST00000379705.3	-	11	3765	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.E829K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E797K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E886K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E821K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E975K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E797K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E829K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	970	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.E970K(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACGTAATCTTCGTGGGTGACT	0.433																																					p.E829K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2485A	13						.						125.0	118.0	120.0					13																	38211066		2203	4300	6503	37109066	SO:0001583	missense	7223	exon11			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2908G>A	13.37:g.38211066C>T	ENSP00000369027:p.Glu970Lys		37109066	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974194	0.34848	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.74526	-0.36;-0.36;-0.17;-0.17;-0.07;-0.51;-0.85;-0.07	5.53	5.53	0.82687	.	0.774326	0.11685	N	0.539469	T	0.76550	0.4003	N	0.14661	0.345	0.80722	D	1	P;B;D;P;P;P	0.61697	0.468;0.257;0.99;0.681;0.531;0.553	B;B;P;B;B;B	0.61722	0.05;0.073;0.893;0.116;0.151;0.034	T	0.78119	-0.2328	10	0.72032	D	0.01	-13.3746	17.6349	0.88119	0.0:1.0:0.0:0.0	.	829;821;975;797;886;970	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	970;975;797;797;829;886;821;829	ENSP00000369027:E970K;ENSP00000369003:E975K;ENSP00000342580:E797K;ENSP00000369001:E797K;ENSP00000348025:E829K;ENSP00000351264:E886K;ENSP00000368995:E821K;ENSP00000414316:E829K	ENSP00000342580:E797K	E	-	1	0	TRPC4	37109066	0.840000	0.29493	0.416000	0.26546	0.097000	0.18754	5.038000	0.64177	2.612000	0.88384	0.655000	0.94253	GAA		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38211466	38211466	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:38211466C>A	ENST00000379705.3	-	11	3365	c.2508G>T	c.(2506-2508)gtG>gtT	p.V836V	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379679.1_Silent_p.V663V|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.V841V|TRPC4_ENST00000338947.5_Silent_p.V663V|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	836	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V836V(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACAAAATTCACTTTTCTCT	0.428																																					p.V836V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2508T	13						.						75.0	76.0	76.0					13																	38211466		2203	4300	6503	37109466	SO:0001819	synonymous_variant	7223	exon11			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2508G>T	13.37:g.38211466C>A			37109466	NM_016179	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39265478	39265478	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39265478G>T	ENST00000280481.7	+	1	4213	c.3997G>T	c.(3997-3999)Gat>Tat	p.D1333Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1333					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1333Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGATTTAGATTCAGAAGA	0.353																																					p.D1333Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3997T	13						.						76.0	80.0	79.0					13																	39265478		2203	4300	6503	38163478	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3997G>T	13.37:g.39265478G>T	ENSP00000280481:p.Asp1333Tyr		38163478	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638705	0.67130	.	.	ENSG00000150893	ENST00000280481	T	0.74106	-0.81	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93768	0.7072	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1333	Q5SZK8	FREM2_HUMAN	Y	1333	ENSP00000280481:D1333Y	ENSP00000280481:D1333Y	D	+	1	0	FREM2	38163478	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.864000	0.99589	2.894000	0.99253	0.655000	0.94253	GAT		0.353	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	broad.mit.edu	37	13	39265545	39265545	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39265545G>A	ENST00000280481.7	+	1	4280	c.4064G>A	c.(4063-4065)cGa>cAa	p.R1355Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1355					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1355Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACAGAGACGAAAACCTACT	0.368																																					p.R1355Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4064A	13						.						64.0	65.0	65.0					13																	39265545		2203	4300	6503	38163545	SO:0001583	missense	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4064G>A	13.37:g.39265545G>A	ENSP00000280481:p.Arg1355Gln		38163545	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	0.815	-0.750642	0.03041	.	.	ENSG00000150893	ENST00000280481	T	0.42131	0.98	5.81	-3.79	0.04320	.	0.755679	0.12542	N	0.459858	T	0.25158	0.0611	L	0.37750	1.13	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33266	-0.9875	10	0.12430	T	0.62	.	8.9312	0.35672	0.5521:0.0:0.3399:0.108	.	1355	Q5SZK8	FREM2_HUMAN	Q	1355	ENSP00000280481:R1355Q	ENSP00000280481:R1355Q	R	+	2	0	FREM2	38163545	0.000000	0.05858	0.032000	0.17829	0.842000	0.47809	-1.692000	0.01918	-0.822000	0.04306	-0.768000	0.03414	CGA		0.368	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	broad.mit.edu	37	13	39450481	39450481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39450481G>T	ENST00000280481.7	+	20	8722	c.8506G>T	c.(8506-8508)Gaa>Taa	p.E2836*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2836					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2836*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAACCCCAGAGAACCTGTCAC	0.463																																					p.E2836X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8506T	13						.						126.0	105.0	112.0					13																	39450481		2203	4300	6503	38348481	SO:0001587	stop_gained	341640	exon20			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8506G>T	13.37:g.39450481G>T	ENSP00000280481:p.Glu2836*		38348481	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	51	17.907791	0.99895	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.8108	0.96545	0.0:0.0:1.0:0.0	.	.	.	.	X	2836	.	ENSP00000280481:E2836X	E	+	1	0	FREM2	38348481	1.000000	0.71417	0.996000	0.52242	0.822000	0.46500	9.776000	0.99001	2.698000	0.92095	0.563000	0.77884	GAA		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	broad.mit.edu	37	13	39453093	39453093	+	Silent	SNP	C	C	T	rs552170785		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39453093C>T	ENST00000280481.7	+	23	9201	c.8985C>T	c.(8983-8985)gtC>gtT	p.V2995V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2995					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2995V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATTTAAAGTCGACTCAACAC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18510	0.0		0.0	False		,,,				2504	0.001				p.V2995V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8985T	13						.						201.0	174.0	184.0					13																	39453093		2203	4300	6503	38351093	SO:0001819	synonymous_variant	341640	exon23			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8985C>T	13.37:g.39453093C>T			38351093	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	broad.mit.edu	37	13	39454470	39454470	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39454470C>T	ENST00000280481.7	+	24	9272	c.9056C>T	c.(9055-9057)tCg>tTg	p.S3019L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3019					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3019L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAGTGAGATCGAAAGACAAT	0.433																																					p.S3019L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9056T	13						.						96.0	92.0	93.0					13																	39454470		2203	4300	6503	38352470	SO:0001583	missense	341640	exon24			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9056C>T	13.37:g.39454470C>T	ENSP00000280481:p.Ser3019Leu		38352470	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470783	0.84533	.	.	ENSG00000150893	ENST00000280481	T	0.60171	0.21	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.82494	-0.0429	10	0.66056	D	0.02	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	3019	Q5SZK8	FREM2_HUMAN	L	3019	ENSP00000280481:S3019L	ENSP00000280481:S3019L	S	+	2	0	FREM2	38352470	1.000000	0.71417	0.518000	0.27811	0.286000	0.27126	7.593000	0.82686	2.797000	0.96272	0.563000	0.77884	TCG		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
STOML3	161003	broad.mit.edu	37	13	39542553	39542553	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:39542553C>T	ENST00000379631.4	-	6	979	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	STOML3_ENST00000423210.1_Missense_Mutation_p.R203Q	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	212					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.R212Q(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTCGCTTCCCGGGTGGCCTC	0.562																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	13						.						90.0	84.0	86.0					13																	39542553		2203	4300	6503	38440553	SO:0001583	missense	161003	exon7			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.635G>A	13.37:g.39542553C>T	ENSP00000368952:p.Arg212Gln		38440553	NM_001144033	B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406233	0.62288	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.94330	-3.4;-3.4	5.92	5.92	0.95590	.	0.109676	0.64402	D	0.000006	D	0.96595	0.8889	M	0.91768	3.24	0.80722	D	1	D;D	0.69078	0.985;0.997	P;P	0.58520	0.84;0.84	D	0.96810	0.9596	10	0.72032	D	0.01	-13.843	13.1665	0.59573	0.0:0.9232:0.0:0.0767	.	203;212	B4E285;Q8TAV4	.;STML3_HUMAN	Q	212;203	ENSP00000368952:R212Q;ENSP00000401989:R203Q	ENSP00000368952:R212Q	R	-	2	0	STOML3	38440553	0.962000	0.33011	0.858000	0.33744	0.003000	0.03518	3.088000	0.50175	2.795000	0.96236	0.655000	0.94253	CGG		0.562	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2		
COG6	57511	broad.mit.edu	37	13	40293445	40293445	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:40293445T>G	ENST00000455146.3	+	14	1407	c.1357T>G	c.(1357-1359)Tta>Gta	p.L453V	COG6_ENST00000416691.1_Missense_Mutation_p.L453V	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	453					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L453V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		GCGTGAAGTTTTAGCATCTCA	0.388																																					p.L453V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1357G	13						.						142.0	125.0	131.0					13																	40293445		2203	4300	6503	39191445	SO:0001583	missense	57511	exon14			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1357T>G	13.37:g.40293445T>G	ENSP00000397441:p.Leu453Val		39191445	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082000	0.76528	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.61742	0.08;0.08	5.92	-1.26	0.09376	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.72118	2.19	0.53688	D	0.999979	D;D	0.76494	0.999;0.985	D;P	0.72982	0.979;0.81	T	0.69942	-0.5008	10	0.51188	T	0.08	0.04	12.7872	0.57512	0.0:0.6825:0.0:0.3175	.	474;453	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	V	453;484;453	ENSP00000403733:L453V;ENSP00000397441:L453V	ENSP00000255468:L484V	L	+	1	2	COG6	39191445	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	0.675000	0.25232	-0.163000	0.10946	0.533000	0.62120	TTA		0.388	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
SLC25A15	10166	broad.mit.edu	37	13	41381512	41381512	+	Nonsense_Mutation	SNP	C	C	T	rs104894429		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41381512C>T	ENST00000338625.4	+	5	771	c.535C>T	c.(535-537)Cga>Tga	p.R179*	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	179					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)	p.R179*(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CACTTTACTTCGAGAAGTACC	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		21877	0.001		0.0	False		,,,				2504	0.0				p.R179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C535T	13	GRCh37	CM001338	SLC25A15	M	rs104894429	.						191.0	177.0	182.0					13																	41381512		2203	4300	6503	40279512	SO:0001587	stop_gained	10166	exon5			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.535C>T	13.37:g.41381512C>T	ENSP00000342267:p.Arg179*		40279512	NM_014252	Q5VZD8|Q9HC45	Nonsense_Mutation	SNP	ENST00000338625.4	37	CCDS9373.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139146	0.94560	.	.	ENSG00000102743	ENST00000338625;ENST00000379523;ENST00000443985;ENST00000417731	.	.	.	5.22	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8191	0.70059	0.1438:0.8562:0.0:0.0	.	.	.	.	X	179;133;119;133	.	ENSP00000342267:R179X	R	+	1	2	SLC25A15	40279512	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	2.419000	0.44671	2.597000	0.87782	0.455000	0.32223	CGA		0.448	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276149.2	NM_014252	
ELF1	1997	broad.mit.edu	37	13	41515075	41515075	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41515075G>T	ENST00000239882.3	-	8	1552	c.1238C>A	c.(1237-1239)tCt>tAt	p.S413Y	ELF1_ENST00000442101.1_Missense_Mutation_p.S389Y|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	413					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S413Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGAACGGAAGAATTTAATGT	0.428																																					p.S413Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238A	13						.						101.0	95.0	97.0					13																	41515075		2203	4300	6503	40413075	SO:0001583	missense	1997	exon8			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1238C>A	13.37:g.41515075G>T	ENSP00000239882:p.Ser413Tyr		40413075	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725157	0.48833	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.49432	0.78;0.78	5.66	5.66	0.87406	.	0.270267	0.36703	N	0.002442	T	0.51873	0.1700	L	0.29908	0.895	0.37128	D	0.901136	D;D	0.59767	0.971;0.986	P;P	0.52514	0.624;0.701	T	0.59059	-0.7525	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	389;413	E9PDQ9;P32519	.;ELF1_HUMAN	Y	389;155;413	ENSP00000405580:S389Y;ENSP00000239882:S413Y	ENSP00000239882:S413Y	S	-	2	0	ELF1	40413075	1.000000	0.71417	0.966000	0.40874	0.106000	0.19336	7.491000	0.81471	2.832000	0.97577	0.655000	0.94253	TCT		0.428	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
KBTBD6	89890	broad.mit.edu	37	13	41704633	41704633	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41704633G>A	ENST00000379485.1	-	1	2249	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	KBTBD6_ENST00000499385.2_Missense_Mutation_p.A606V	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	672								p.A672V(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACTGAGGCGCTACACGCAC	0.398																																					p.A672V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2015T	13						.						69.0	69.0	69.0					13																	41704633		2203	4300	6503	40602633	SO:0001583	missense	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.2015C>T	13.37:g.41704633G>A	ENSP00000368799:p.Ala672Val		40602633	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.844139	0.51164	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.77750	-1.05;-1.12	3.8	1.94	0.25998	.	0.230218	0.27927	N	0.017292	T	0.66867	0.2833	N	0.24115	0.695	0.09310	N	1	D;D	0.59767	0.986;0.976	P;B	0.50082	0.63;0.427	T	0.59883	-0.7370	10	0.87932	D	0	.	4.6932	0.12791	0.1313:0.2253:0.6434:0.0	.	606;672	F5GZN7;Q86V97	.;KBTB6_HUMAN	V	672;606	ENSP00000368799:A672V;ENSP00000444326:A606V	ENSP00000368799:A672V	A	-	2	0	KBTBD6	40602633	0.009000	0.17119	0.007000	0.13788	0.382000	0.30200	1.037000	0.30241	0.353000	0.24079	0.462000	0.41574	GCG		0.398	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
KBTBD6	89890	broad.mit.edu	37	13	41705091	41705091	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41705091G>A	ENST00000379485.1	-	1	1791	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	KBTBD6_ENST00000499385.2_Silent_p.C453C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	519								p.C519C(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CATTGAAGACGCAGGCTTCCT	0.443																																					p.C519C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557T	13						.						96.0	92.0	94.0					13																	41705091		2203	4300	6503	40603091	SO:0001819	synonymous_variant	89890	exon1			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1557C>T	13.37:g.41705091G>A			40603091	NM_152903	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	CCDS9376.1																																																																																				0.443	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
KBTBD7	84078	broad.mit.edu	37	13	41766758	41766758	+	Missense_Mutation	SNP	G	G	A	rs149586667	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41766758G>A	ENST00000379483.3	-	1	1944	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	546								p.R546W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TTACTAATCCGCCTCCATTCT	0.423																																					p.R546W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1636T	13						.						128.0	129.0	129.0					13																	41766758		2203	4300	6503	40664758	SO:0001583	missense	84078	exon1			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1636C>T	13.37:g.41766758G>A	ENSP00000368797:p.Arg546Trp		40664758	NM_032138	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635184	0.47049	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.67865	-0.29	5.37	4.52	0.55395	Kelch-type beta propeller (1);	0.067619	0.53938	U	0.000043	T	0.66066	0.2752	L	0.46157	1.445	0.42849	D	0.994071	D	0.65815	0.995	P	0.51170	0.661	T	0.65216	-0.6222	10	0.37606	T	0.19	.	11.1073	0.48210	0.0:0.0:0.6635:0.3364	.	546	Q8WVZ9	KBTB7_HUMAN	W	546;448	ENSP00000368797:R546W	ENSP00000368797:R546W	R	-	1	2	KBTBD7	40664758	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	2.692000	0.47018	1.221000	0.43506	0.557000	0.71058	CGG		0.423	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138	
KBTBD7	84078	broad.mit.edu	37	13	41767132	41767132	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41767132C>T	ENST00000379483.3	-	1	1570	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	421								p.R421H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ACACAGCAAGCGATCTGCAAG	0.493																																					p.R421H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1262A	13						.						119.0	108.0	112.0					13																	41767132		2203	4298	6501	40665132	SO:0001583	missense	84078	exon1			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1262G>A	13.37:g.41767132C>T	ENSP00000368797:p.Arg421His		40665132	NM_032138	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795462	0.31777	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66460	-0.21	5.05	3.32	0.38043	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	T	0.50086	0.1595	N	0.20986	0.625	0.41065	D	0.985407	B	0.14438	0.01	B	0.08055	0.003	T	0.43475	-0.9389	10	0.59425	D	0.04	.	9.561	0.39369	0.0:0.8263:0.0:0.1737	.	421	Q8WVZ9	KBTB7_HUMAN	H	421;323	ENSP00000368797:R421H	ENSP00000368797:R421H	R	-	2	0	KBTBD7	40665132	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	4.044000	0.57361	0.530000	0.28619	-0.262000	0.10625	CGC		0.493	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138	
MTRF1	9617	broad.mit.edu	37	13	41826864	41826864	+	Missense_Mutation	SNP	C	C	T	rs146179881		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41826864C>T	ENST00000379480.4	-	5	714	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.R205Q|MTRF1_ENST00000430347.2_Missense_Mutation_p.R218Q	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	205					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.R205Q(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		AAATATTTCTCGGGTAAATTG	0.353																																					p.R205Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G614A	13						.	C	GLN/ARG	3,4401	6.2+/-15.9	0,3,2199	61.0	59.0	60.0		614	3.2	1.0	13	dbSNP_134	60	0,8600		0,0,4300	no	missense	MTRF1	NM_004294.2	43	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	205/446	41826864	3,13001	2202	4300	6502	40724864	SO:0001583	missense	9617	exon5			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.614G>A	13.37:g.41826864C>T	ENSP00000368793:p.Arg205Gln		40724864	NM_004294	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516337	0.64634	6.81E-4	0.0	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000452359	T;T;T;T	0.41400	2.82;2.82;2.82;1.0	5.88	3.19	0.36642	Peptide chain release factor (2);	0.293440	0.37136	N	0.002226	T	0.26629	0.0651	L	0.27053	0.805	0.80722	D	1	P;P	0.49090	0.919;0.774	B;B	0.41202	0.35;0.267	T	0.05007	-1.0912	10	0.62326	D	0.03	-6.2204	6.075	0.19911	0.0:0.5884:0.0:0.4116	.	218;205	B4DG01;O75570	.;RF1M_HUMAN	Q	205;205;218;205	ENSP00000368793:R205Q;ENSP00000368790:R205Q;ENSP00000400031:R218Q;ENSP00000399279:R205Q	ENSP00000368790:R205Q	R	-	2	0	MTRF1	40724864	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.613000	0.24299	1.494000	0.48533	0.591000	0.81541	CGA		0.353	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294	
NAA16	79612	broad.mit.edu	37	13	41899936	41899936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41899936G>T	ENST00000379406.3	+	6	964	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.E214*|NAA16_ENST00000403412.3_Nonsense_Mutation_p.E214*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	214					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.E214*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGAACATATAGAAATGTATGA	0.308																																					p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	13						.						70.0	79.0	76.0					13																	41899936		2203	4299	6502	40797936	SO:0001587	stop_gained	79612	exon6			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.640G>T	13.37:g.41899936G>T	ENSP00000368716:p.Glu214*		40797936	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Nonsense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	38	6.717307	0.97784	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	.	.	.	5.02	4.15	0.48705	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.0825	15.2234	0.73330	0.0:0.1415:0.8585:0.0	.	.	.	.	X	214	.	ENSP00000368674:E214X	E	+	1	0	NAA16	40797936	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.562000	0.45914	1.082000	0.41137	0.557000	0.71058	GAA		0.308	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
NAA16	79612	broad.mit.edu	37	13	41933037	41933037	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:41933037A>C	ENST00000379406.3	+	12	1673	c.1349A>C	c.(1348-1350)aAa>aCa	p.K450T	NAA16_ENST00000379367.3_Missense_Mutation_p.K450T	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	450					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.K450T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAATGTGCAAAATACATGCTT	0.373																																					p.K450T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1349C	13						.						99.0	100.0	100.0					13																	41933037		2203	4300	6503	40831037	SO:0001583	missense	79612	exon12			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1349A>C	13.37:g.41933037A>C	ENSP00000368716:p.Lys450Thr		40831037	NM_024561	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069751	0.76301	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.57436	0.4;0.4	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.78253	0.4254	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83543	0.0097	10	0.56958	D	0.05	-21.819	14.5277	0.67900	1.0:0.0:0.0:0.0	.	450	Q6N069	NAA16_HUMAN	T	450	ENSP00000368674:K450T;ENSP00000368716:K450T	ENSP00000368674:K450T	K	+	2	0	NAA16	40831037	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	8.675000	0.91195	1.833000	0.53350	0.459000	0.35465	AAA		0.373	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527	
VWA8	23078	broad.mit.edu	37	13	42275564	42275564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42275564C>A	ENST00000379310.3	-	28	3396	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1110						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1110*(1)									ATATTAATTTCATCCAATGGT	0.328																																					p.E1110X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3328T	13						.						172.0	161.0	164.0					13																	42275564		1834	4088	5922	41173564	SO:0001587	stop_gained	23078	exon28			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3328G>T	13.37:g.42275564C>A	ENSP00000368612:p.Glu1110*		41173564	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	41	8.611181	0.98884	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.6589	0.95855	0.0:1.0:0.0:0.0	.	.	.	.	X	1014;1110	.	ENSP00000251030:E1014X	E	-	1	0	KIAA0564	41173564	1.000000	0.71417	0.997000	0.53966	0.280000	0.26924	6.664000	0.74437	2.713000	0.92767	0.591000	0.81541	GAA		0.328	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42293873	42293873	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42293873A>G	ENST00000379310.3	-	26	3038	c.2970T>C	c.(2968-2970)ttT>ttC	p.F990F	VWA8_ENST00000281496.6_Silent_p.F990F	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	990						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F990F(1)									CTTCAGTCGGAAATTTCTGTA	0.299																																					p.F990F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2970C	13						.						70.0	65.0	67.0					13																	42293873		2203	4300	6503	41191873	SO:0001819	synonymous_variant	23078	exon26			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2970T>C	13.37:g.42293873A>G			41191873	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.299	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42335334	42335334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42335334C>A	ENST00000379310.3	-	21	2424	c.2356G>T	c.(2356-2358)Gga>Tga	p.G786*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.G786*	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	786						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G786*(1)									TTGTTTTTTCCTACACCCTGT	0.368																																					p.G786X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2356T	13						.						146.0	141.0	142.0					13																	42335334		2203	4300	6503	41233334	SO:0001587	stop_gained	23078	exon21			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2356G>T	13.37:g.42335334C>A	ENSP00000368612:p.Gly786*		41233334	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	42	9.291654	0.99127	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8048	0.92032	0.0:1.0:0.0:0.0	.	.	.	.	X	690;786;786	.	ENSP00000251030:G690X	G	-	1	0	KIAA0564	41233334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.440000	0.73435	2.803000	0.96430	0.650000	0.86243	GGA		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42461370	42461370	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42461370C>T	ENST00000379310.3	-	6	847	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	VWA8_ENST00000281496.6_Missense_Mutation_p.R260Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	260						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R260Q(1)									GGCTTGAAATCGAGAACGAAG	0.378																																					p.R260Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779A	13						.						50.0	55.0	53.0					13																	42461370		2203	4300	6503	41359370	SO:0001583	missense	23078	exon6			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.779G>A	13.37:g.42461370C>T	ENSP00000368612:p.Arg260Gln		41359370	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919010	0.92249	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.73681	-0.77;-0.77	5.11	4.25	0.50352	ATPase, dynein-related, AAA domain (1);	0.080769	0.44688	D	0.000433	D	0.89632	0.6771	H	0.94264	3.515	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.92471	0.5985	10	0.72032	D	0.01	.	15.2066	0.73183	0.1419:0.8581:0.0:0.0	.	260	A3KMH1	K0564_HUMAN	Q	164;260;260;260	ENSP00000368612:R260Q;ENSP00000281496:R260Q	ENSP00000251030:R164Q	R	-	2	0	KIAA0564	41359370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.720000	0.84759	1.259000	0.44117	0.650000	0.86243	CGA		0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
VWA8	23078	broad.mit.edu	37	13	42524079	42524079	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42524079C>T	ENST00000379310.3	-	2	302	c.234G>A	c.(232-234)caG>caA	p.Q78Q	VWA8_ENST00000281496.6_Silent_p.Q78Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	78						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q78Q(2)									TACTGTAGTTCTGTGGCACAA	0.249																																					p.Q78Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G234A	13						.						22.0	22.0	22.0					13																	42524079		2193	4292	6485	41422079	SO:0001819	synonymous_variant	23078	exon2			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.234G>A	13.37:g.42524079C>T			41422079	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.249	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
DGKH	160851	broad.mit.edu	37	13	42740747	42740747	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42740747G>A	ENST00000337343.4	+	9	1076	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	DGKH_ENST00000261491.5_Missense_Mutation_p.R352H|DGKH_ENST00000379274.2_Missense_Mutation_p.R216H|DGKH_ENST00000538674.1_Missense_Mutation_p.R107H|DGKH_ENST00000536612.1_Missense_Mutation_p.R216H|DGKH_ENST00000540693.1_Missense_Mutation_p.R352H|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	352	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R352H(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTCCTCCGTCGCTTTAAACAG	0.368																																					p.R352H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	13						.						128.0	126.0	127.0					13																	42740747		2203	4300	6503	41638747	SO:0001583	missense	160851	exon9			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1055G>A	13.37:g.42740747G>A	ENSP00000337572:p.Arg352His		41638747	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845423	0.71603	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.81	4.07	0.47477	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.62723	1.935	0.48040	D	0.999576	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.992;0.997;0.996	T	0.49409	-0.8943	10	0.87932	D	0	.	12.8356	0.57771	0.134:0.0:0.866:0.0	.	107;216;352;352	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	H	352;352;352;216;216;107	ENSP00000440823:R352H;ENSP00000337572:R352H;ENSP00000261491:R352H;ENSP00000368576:R216H;ENSP00000445114:R216H;ENSP00000441308:R107H	ENSP00000261491:R352H	R	+	2	0	DGKH	41638747	1.000000	0.71417	0.777000	0.31699	0.628000	0.37860	7.841000	0.86834	1.470000	0.48102	-0.142000	0.14014	CGC		0.368	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
DGKH	160851	broad.mit.edu	37	13	42773954	42773954	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42773954G>A	ENST00000337343.4	+	20	2423	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	DGKH_ENST00000261491.5_Missense_Mutation_p.R801Q|DGKH_ENST00000379274.2_Missense_Mutation_p.R665Q|DGKH_ENST00000538674.1_Missense_Mutation_p.R556Q|DGKH_ENST00000536612.1_Missense_Mutation_p.R665Q|DGKH_ENST00000540693.1_Missense_Mutation_p.R801Q|DGKH_ENST00000498255.2_3'UTR	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	801					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R801Q(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTCAGGAGCCGAACTAAAAAC	0.348																																					p.R801Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2402A	13						.						47.0	51.0	49.0					13																	42773954		2203	4300	6503	41671954	SO:0001583	missense	160851	exon20			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2402G>A	13.37:g.42773954G>A	ENSP00000337572:p.Arg801Gln		41671954	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015610	0.93404	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.073536	0.56097	D	0.000034	T	0.61986	0.2391	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.996;0.982;0.997	T	0.62651	-0.6809	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	556;665;801;801	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	Q	801;801;801;665;665;556	ENSP00000440823:R801Q;ENSP00000337572:R801Q;ENSP00000261491:R801Q;ENSP00000368576:R665Q;ENSP00000445114:R665Q;ENSP00000441308:R556Q	ENSP00000261491:R801Q	R	+	2	0	DGKH	41671954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.956000	0.87863	2.727000	0.93392	0.591000	0.81541	CGA		0.348	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
AKAP11	11215	broad.mit.edu	37	13	42874681	42874681	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42874681G>T	ENST00000025301.2	+	8	1974	c.1799G>T	c.(1798-1800)aGa>aTa	p.R600I		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	600					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.R600I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GATGAGCTGAGAAGGCAGCGT	0.393																																					p.R600I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1799T	13						.						85.0	82.0	83.0					13																	42874681		2203	4300	6503	41772681	SO:0001583	missense	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1799G>T	13.37:g.42874681G>T	ENSP00000025301:p.Arg600Ile		41772681	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707653	0.68615	.	.	ENSG00000023516	ENST00000025301	T	0.16196	2.36	6.07	5.11	0.69529	.	0.123620	0.53938	D	0.000043	T	0.32071	0.0817	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	P	0.54312	0.748	T	0.03278	-1.1053	10	0.48119	T	0.1	.	12.9991	0.58666	0.0934:0.0:0.9066:0.0	.	600	Q9UKA4	AKA11_HUMAN	I	600	ENSP00000025301:R600I	ENSP00000025301:R600I	R	+	2	0	AKAP11	41772681	1.000000	0.71417	0.977000	0.42913	0.917000	0.54804	3.908000	0.56355	1.324000	0.45282	0.585000	0.79938	AGA		0.393	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
AKAP11	11215	broad.mit.edu	37	13	42875403	42875403	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:42875403G>A	ENST00000025301.2	+	8	2696	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	841					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.E841K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTTACCTTCAGAACACAATCC	0.338																																					p.E841K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2521A	13						.						41.0	40.0	40.0					13																	42875403		2203	4297	6500	41773403	SO:0001583	missense	11215	exon8			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2521G>A	13.37:g.42875403G>A	ENSP00000025301:p.Glu841Lys		41773403	NM_016248	O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283287	0.40394	.	.	ENSG00000023516	ENST00000025301	T	0.15372	2.43	6.17	5.16	0.70880	.	0.560263	0.18125	N	0.150915	T	0.19248	0.0462	L	0.51422	1.61	0.35054	D	0.760887	P	0.42692	0.787	B	0.39379	0.298	T	0.14811	-1.0459	10	0.52906	T	0.07	.	14.7236	0.69326	0.0772:0.0:0.9228:0.0	.	841	Q9UKA4	AKA11_HUMAN	K	841	ENSP00000025301:E841K	ENSP00000025301:E841K	E	+	1	0	AKAP11	41773403	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.687000	0.54692	2.941000	0.99782	0.655000	0.94253	GAA		0.338	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
ENOX1	55068	broad.mit.edu	37	13	43810869	43810869	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:43810869G>T	ENST00000261488.6	-	15	2194	c.1617C>A	c.(1615-1617)atC>atA	p.I539I	ENOX1_ENST00000412891.1_Silent_p.I539I	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	539					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.I539I(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCAACACATTGATTTCCTATA	0.338																																					p.I539I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1617A	13						.						95.0	91.0	92.0					13																	43810869		2202	4297	6499	42708869	SO:0001819	synonymous_variant	55068	exon15			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1617C>A	13.37:g.43810869G>T			42708869	NM_001127615	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	ENST00000261488.6	37	CCDS9389.1																																																																																				0.338	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
CCDC122	160857	broad.mit.edu	37	13	44434060	44434060	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:44434060A>G	ENST00000444614.3	-	5	561	c.303T>C	c.(301-303)caT>caC	p.H101H	CCDC122_ENST00000281508.3_Silent_p.H101H|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	101								p.H101H(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		CATTTTCTGAATGTAAGGATT	0.299																																					p.H101H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T303C	13						.						86.0	83.0	84.0					13																	44434060		2203	4294	6497	43332060	SO:0001819	synonymous_variant	160857	exon5			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.303T>C	13.37:g.44434060A>G			43332060	NM_144974	B2RP70|B7ZMI9|Q96MV0	Silent	SNP	ENST00000444614.3	37	CCDS9390.2																																																																																				0.299	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276172.4	NM_144974	
TSC22D1	8848	broad.mit.edu	37	13	45149345	45149345	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:45149345A>G	ENST00000458659.2	-	1	1356	c.866T>C	c.(865-867)gTa>gCa	p.V289A	TSC22D1_ENST00000501704.2_Missense_Mutation_p.V289A|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	289					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V289A(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ATTAGTCATTACAGATGCAGG	0.418																																					p.V289A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T866C	13						.						109.0	102.0	104.0					13																	45149345		2203	4300	6503	44047345	SO:0001583	missense	8848	exon1			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.866T>C	13.37:g.45149345A>G	ENSP00000397435:p.Val289Ala		44047345	NM_183422	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	7.396	0.631741	0.14322	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.46063	0.88;0.88	4.95	3.76	0.43208	.	0.268957	0.25872	N	0.027754	T	0.24851	0.0603	L	0.27053	0.805	0.22401	N	0.999134	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	9.652	0.39904	0.9167:0.0:0.0833:0.0	.	289;289	B3KRL7;Q15714	.;T22D1_HUMAN	A	289	ENSP00000397435:V289A;ENSP00000437414:V289A	ENSP00000397435:V289A	V	-	2	0	TSC22D1	44047345	0.681000	0.27614	0.995000	0.50966	0.494000	0.33585	0.868000	0.27982	0.912000	0.36772	0.459000	0.35465	GTA		0.418	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
GPALPP1	55425	broad.mit.edu	37	13	45602086	45602086	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:45602086C>A	ENST00000379151.4	+	8	1074	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Missense_Mutation_p.S324Y|GPALPP1_ENST00000357537.3_Missense_Mutation_p.S154Y	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	324								p.S324Y(1)									ATAAAAAAATCTAGAGAACTA	0.323																																					p.S324Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C971A	13						.						67.0	78.0	74.0					13																	45602086		2203	4298	6501	44500086	SO:0001583	missense	55425	exon8			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.971C>A	13.37:g.45602086C>A	ENSP00000368447:p.Ser324Tyr		44500086	NM_018559	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	ENST00000379151.4	37	CCDS9394.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545404	0.86022	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.83450	0.5257	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.84819	0.0795	9	0.87932	D	0	-13.4251	19.0819	0.93186	0.0:1.0:0.0:0.0	.	175;324	Q8IXQ4-2;Q8IXQ4	.;K1704_HUMAN	Y	324;324;154	.	ENSP00000350145:S154Y	S	+	2	0	KIAA1704	44500086	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.335000	0.79234	2.757000	0.94681	0.585000	0.79938	TCT		0.323	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	
KCTD4	386618	broad.mit.edu	37	13	45768399	45768399	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:45768399C>T	ENST00000379108.1	-	1	453	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	KCTD4_ENST00000405872.1_Missense_Mutation_p.E102K|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	102	BTB.				protein homooligomerization (GO:0051260)			p.E102K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		CGAAACCCTTCGGGCAATAGA	0.458																																					p.E102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	13						.						104.0	102.0	103.0					13																	45768399		2203	4300	6503	44666399	SO:0001583	missense	386618	exon2			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.304G>A	13.37:g.45768399C>T	ENSP00000368402:p.Glu102Lys		44666399	NM_198404	Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396005	0.83011	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.76968	-1.06;-1.06	5.96	5.96	0.96718	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052235	0.85682	D	0.000000	T	0.81245	0.4782	L	0.31065	0.9	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.80986	-0.1137	10	0.49607	T	0.09	.	19.3895	0.94574	0.0:1.0:0.0:0.0	.	102	Q8WVF5	KCTD4_HUMAN	K	102	ENSP00000368402:E102K;ENSP00000385144:E102K	ENSP00000368402:E102K	E	-	1	0	KCTD4	44666399	1.000000	0.71417	0.968000	0.41197	0.972000	0.66771	5.980000	0.70516	2.833000	0.97629	0.591000	0.81541	GAA		0.458	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1		
GTF2F2	2963	broad.mit.edu	37	13	45781630	45781630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:45781630C>T	ENST00000340473.6	+	5	517	c.376C>T	c.(376-378)Cga>Tga	p.R126*	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	126					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.R126*(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		AAACTACATGCGATTAAAAAG	0.388																																					p.R126X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C376T	13						.						84.0	87.0	86.0					13																	45781630		2203	4300	6503	44679630	SO:0001587	stop_gained	2963	exon5			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.376C>T	13.37:g.45781630C>T	ENSP00000340823:p.Arg126*		44679630	NM_004128	A6NNS5|Q5W0H3	Nonsense_Mutation	SNP	ENST00000340473.6	37	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	C	36	5.716407	0.96830	.	.	ENSG00000188342	ENST00000340473	.	.	.	4.98	2.51	0.30379	.	0.326495	0.33144	N	0.005240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-13.4925	10.9978	0.47587	0.5003:0.4997:0.0:0.0	.	.	.	.	X	126	.	ENSP00000340823:R126X	R	+	1	2	GTF2F2	44679630	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	2.159000	0.42339	0.323000	0.23307	-0.262000	0.10625	CGA		0.388	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128	
SLC25A30	253512	broad.mit.edu	37	13	45971415	45971415	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:45971415C>A	ENST00000539591.1	-	8	822	c.659G>T	c.(658-660)aGa>aTa	p.R220I				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	271					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.R271I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGGACCAAGTCTCAACCAATT	0.308																																					p.R271I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812T	13						.						72.0	74.0	73.0					13																	45971415		2203	4300	6503	44869415	SO:0001583	missense	253512	exon9			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.659G>T	13.37:g.45971415C>A	ENSP00000443542:p.Arg220Ile		44869415	NM_001010875	B2RN96|B4DZK3|F5H8H8	Missense_Mutation	SNP	ENST00000539591.1	37		.	.	.	.	.	.	.	.	.	.	.	29.6	5.018949	0.93404	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591	D;D	0.81739	-1.53;-1.53	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.154274	0.53938	D	0.000057	D	0.92306	0.7559	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93544	0.6880	10	0.87932	D	0	-34.8243	18.5744	0.91149	0.0:1.0:0.0:0.0	.	271	Q5SVS4	KMCP1_HUMAN	I	271;196;220	ENSP00000429168:R271I;ENSP00000443542:R220I	ENSP00000429168:R271I	R	-	2	0	SLC25A30	44869415	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.095000	0.76952	2.795000	0.96236	0.655000	0.94253	AGA		0.308	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding		XM_170736	
COG3	83548	broad.mit.edu	37	13	46050389	46050389	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46050389G>T	ENST00000349995.5	+	2	340	c.228G>T	c.(226-228)ctG>ctT	p.L76L		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	76					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.L76L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CCATTGAACTGACTTCAGTAG	0.393																																					p.L76L	Ovarian(150;1048 1859 18083 21577 42700)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G228T	13						.						106.0	100.0	102.0					13																	46050389		2203	4300	6503	44948390	SO:0001819	synonymous_variant	83548	exon2			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.228G>T	13.37:g.46050389G>T			44948390	NM_031431	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Silent	SNP	ENST00000349995.5	37	CCDS9398.1																																																																																				0.393	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46287329G>A	ENST00000310521.1	+	3	249	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPERT_ENST00000378966.3_Missense_Mutation_p.E21K	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	57						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.E57K(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647																																					p.E57K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G169A	13						.						21.0	21.0	21.0					13																	46287329		2201	4298	6499	45185330	SO:0001583	missense	220082	exon3			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.169G>A	13.37:g.46287329G>A	ENSP00000309189:p.Glu57Lys		45185330	NM_152719	A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247467	0.59103	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.57752	0.39;0.38	5.1	5.1	0.69264	.	0.000000	0.48286	D	0.000181	T	0.63651	0.2529	L	0.40543	1.245	0.39134	D	0.961919	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.67601	-0.5629	10	0.87932	D	0	.	13.8953	0.63768	0.0:0.0:1.0:0.0	.	21;57	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	K	57;30;21	ENSP00000309189:E57K;ENSP00000368249:E21K	ENSP00000309189:E57K	E	+	1	0	SPERT	45185330	0.994000	0.37717	0.998000	0.56505	0.231000	0.25187	2.592000	0.46171	2.653000	0.90120	0.650000	0.86243	GAA		0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
SIAH3	283514	broad.mit.edu	37	13	46425654	46425654	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46425654G>A	ENST00000400405.2	-	1	217	c.111C>T	c.(109-111)gtC>gtT	p.V37V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	37					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V37V(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGGGGTTGACGACACAGACAA	0.537																																					p.V37V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	13						.						84.0	91.0	89.0					13																	46425654		1960	4162	6122	45323655	SO:0001819	synonymous_variant	283514	exon1				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.111C>T	13.37:g.46425654G>A			45323655	NM_198849	B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	CCDS41883.1																																																																																				0.537	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849	
ZC3H13	23091	broad.mit.edu	37	13	46542124	46542124	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46542124G>T	ENST00000242848.4	-	15	4184	c.3836C>A	c.(3835-3837)tCt>tAt	p.S1279Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1279Y|ZC3H13_ENST00000378921.2_Missense_Mutation_p.S235Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1279	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S1279Y(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TGACTCTGGAGAACTTCTTCT	0.393																																					p.S1279Y	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3836A	13						.						145.0	138.0	141.0					13																	46542124		2203	4300	6503	45440125	SO:0001583	missense	23091	exon15			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3836C>A	13.37:g.46542124G>T	ENSP00000242848:p.Ser1279Tyr		45440125	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	17.58	3.425378	0.62733	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.55413	1.57;1.9;0.52	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000026	T	0.71099	0.3300	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.72636	-0.4233	10	0.72032	D	0.01	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	1279;1279	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	1279;235;1279	ENSP00000242848:S1279Y;ENSP00000368201:S235Y;ENSP00000282007:S1279Y	ENSP00000242848:S1279Y	S	-	2	0	ZC3H13	45440125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.979000	0.93455	2.669000	0.90835	0.591000	0.81541	TCT		0.393	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
ZC3H13	23091	broad.mit.edu	37	13	46542898	46542898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46542898G>A	ENST00000242848.4	-	14	4129	c.3781C>T	c.(3781-3783)Cga>Tga	p.R1261*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1261*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R217*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1261	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1261*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GAAGTACTTCGACTGGGTTCT	0.343																																					p.R1261X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3781T	13						.						120.0	123.0	122.0					13																	46542898		2203	4300	6503	45440899	SO:0001587	stop_gained	23091	exon14			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3781C>T	13.37:g.46542898G>A	ENSP00000242848:p.Arg1261*		45440899	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	46	12.202900	0.99646	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.44	4.58	0.56647	.	0.000000	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7476	0.77958	0.0:0.0:0.8622:0.1378	.	.	.	.	X	1261;217;1261	.	ENSP00000242848:R1261X	R	-	1	2	ZC3H13	45440899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.214000	0.77958	1.403000	0.46800	0.591000	0.81541	CGA		0.343	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
ZC3H13	23091	broad.mit.edu	37	13	46543093	46543093	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46543093G>A	ENST00000242848.4	-	14	3934	c.3586C>T	c.(3586-3588)Cgg>Tgg	p.R1196W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R1196W|ZC3H13_ENST00000378921.2_Missense_Mutation_p.R152W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1196	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1196W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGGTTACTCCGATTGCTCCCG	0.502																																					p.R1196W	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3586T	13						.						180.0	169.0	173.0					13																	46543093		2203	4300	6503	45441094	SO:0001583	missense	23091	exon14			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3586C>T	13.37:g.46543093G>A	ENSP00000242848:p.Arg1196Trp		45441094	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	15.24	2.776119	0.49786	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35605	2.3;1.93;1.3	5.63	4.77	0.60923	.	0.000000	0.56097	D	0.000036	T	0.47229	0.1434	L	0.27053	0.805	0.46437	D	0.999044	D;D	0.89917	1.0;1.0	D;D	0.68765	0.913;0.96	T	0.52749	-0.8534	10	0.87932	D	0	.	16.1454	0.81562	0.0:0.0:0.8655:0.1345	.	1196;1196	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	W	1196;152;1196	ENSP00000242848:R1196W;ENSP00000368201:R152W;ENSP00000282007:R1196W	ENSP00000242848:R1196W	R	-	1	2	ZC3H13	45441094	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.937000	0.75898	1.485000	0.48380	0.655000	0.94253	CGG		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
ZC3H13	23091	broad.mit.edu	37	13	46562970	46562970	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46562970G>T	ENST00000242848.4	-	9	1555	c.1207C>A	c.(1207-1209)Cat>Aat	p.H403N	ZC3H13_ENST00000282007.3_Missense_Mutation_p.H403N			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	403	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.H403N(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GTTCGTTCATGATCATGTCTC	0.438																																					p.H403N	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207A	13						.						154.0	132.0	140.0					13																	46562970		2203	4300	6503	45460971	SO:0001583	missense	23091	exon9			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1207C>A	13.37:g.46562970G>T	ENSP00000242848:p.His403Asn		45460971	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	13.51	2.259108	0.39896	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.29917	2.57;1.55	5.81	5.81	0.92471	.	0.108387	0.40640	N	0.001049	T	0.19886	0.0478	N	0.19112	0.55	0.80722	D	1	B;P	0.41848	0.255;0.763	B;B	0.35770	0.073;0.21	T	0.02966	-1.1088	10	0.30854	T	0.27	.	14.8686	0.70437	0.0:0.0:0.8565:0.1435	.	403;403	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	N	403;403;219	ENSP00000242848:H403N;ENSP00000282007:H403N	ENSP00000242848:H403N	H	-	1	0	ZC3H13	45460971	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.504000	0.60414	2.738000	0.93877	0.655000	0.94253	CAT		0.438	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
CPB2	1361	broad.mit.edu	37	13	46632342	46632342	+	Missense_Mutation	SNP	C	C	T	rs376421547		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46632342C>T	ENST00000181383.4	-	9	987	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R287Q|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	324		Cleavage; by thrombin.			blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R324Q(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GCTTTTACTTCGTGTATAGGA	0.328																																					p.R287Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G860A	13						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	169.0	162.0	164.0		971,860	0.8	0.3	13		164	0,8600		0,0,4300	no	missense,missense	CPB2	NM_001872.3,NM_016413.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	324/424,287/361	46632342	1,13005	2203	4300	6503	45530343	SO:0001583	missense	1361	exon8			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.971G>A	13.37:g.46632342C>T	ENSP00000181383:p.Arg324Gln		45530343	NM_016413	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863906	0.17250	2.27E-4	0.0	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.11604	2.76;2.76	5.86	0.752	0.18398	Peptidase M14, carboxypeptidase A (2);	0.797322	0.12646	N	0.450853	T	0.09642	0.0237	L	0.45137	1.4	0.09310	N	1	D;B	0.56968	0.978;0.123	P;B	0.47299	0.543;0.009	T	0.20371	-1.0277	10	0.37606	T	0.19	.	1.0087	0.01492	0.178:0.356:0.1745:0.2915	.	287;324	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	Q	324;287	ENSP00000181383:R324Q;ENSP00000400714:R287Q	ENSP00000181383:R324Q	R	-	2	0	CPB2	45530343	0.000000	0.05858	0.312000	0.25196	0.009000	0.06853	-0.734000	0.04893	0.354000	0.24105	-1.105000	0.02106	CGA		0.328	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872	
KIAA0226L	80183	broad.mit.edu	37	13	46917591	46917591	+	Missense_Mutation	SNP	C	C	T	rs374704916		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:46917591C>T	ENST00000429979.1	-	15	2522	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E505K|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E483K|KIAA0226L_ENST00000378797.2_Silent_p.P588P|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E640K|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E573K|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E483K|KIAA0226L_ENST00000378787.3_Silent_p.P588P	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	640								p.E640K(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CGGGGGCACTCGGAGGACTGG	0.517																																					p.E640K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1918A	13						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74.0	68.0	70.0		1918	-5.6	0.0	13		70	0,8600		0,0,4300	no	missense	KIAA0226L	NM_025113.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	640/663	46917591	1,13005	2203	4300	6503	45815592	SO:0001583	missense	80183	exon15			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1918G>A	13.37:g.46917591C>T	ENSP00000396935:p.Glu640Lys		45815592	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	3.669	-0.067958	0.07228	2.27E-4	0.0	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.43294	0.96;0.95;0.96;0.96	5.55	-5.64	0.02466	.	.	.	.	.	T	0.22666	0.0547	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.15141	0.012;0.012;0.004;0.003;0.002	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.004;0.003	T	0.37596	-0.9699	9	0.07175	T	0.84	0.0897	7.4501	0.27234	0.0:0.2625:0.3537:0.3838	.	483;483;640;505;573	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	K	640;573;640;483;483;505	ENSP00000396935:E640K;ENSP00000368061:E573K;ENSP00000374558:E640K;ENSP00000437501:E505K	ENSP00000315633:E483K	E	-	1	0	KIAA0226L	45815592	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.156000	0.03160	-1.978000	0.00993	-1.775000	0.00657	GAG		0.517	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
LRCH1	23143	broad.mit.edu	37	13	47243167	47243167	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:47243167G>A	ENST00000389798.3	+	3	652	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	LRCH1_ENST00000389797.3_Missense_Mutation_p.R152Q|LRCH1_ENST00000311191.6_Missense_Mutation_p.R152Q	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	152								p.R152Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTTTGCAGTCGAAATCAGCTG	0.433																																					p.R152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	13						.						159.0	149.0	153.0					13																	47243167		2203	4300	6503	46141168	SO:0001583	missense	23143	exon3			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.455G>A	13.37:g.47243167G>A	ENSP00000374448:p.Arg152Gln		46141168	NM_001164211	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742636	0.96873	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.57273	0.41;0.41;0.41	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.55433	0.1920	N	0.05078	-0.115	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.896	D;D;D;P	0.91635	0.999;0.999;0.998;0.649	T	0.65183	-0.6230	10	0.54805	T	0.06	-23.2914	18.9909	0.92791	0.0:0.0:1.0:0.0	.	152;152;152;152	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	Q	152	ENSP00000308493:R152Q;ENSP00000374448:R152Q;ENSP00000374447:R152Q	ENSP00000308493:R152Q	R	+	2	0	LRCH1	46141168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	CGA		0.433	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116	
HTR2A	3356	broad.mit.edu	37	13	47469874	47469874	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:47469874G>T	ENST00000378688.4	-	1	299	c.168C>A	c.(166-168)tcC>tcA	p.S56S	HTR2A_ENST00000542664.1_Silent_p.S56S|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	56					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S56S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCCTTCACAGGAAAGGTTGG	0.443																																					p.S56S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168A	13						.						119.0	115.0	116.0					13																	47469874		2203	4300	6503	46367875	SO:0001819	synonymous_variant	3356	exon2			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.168C>A	13.37:g.47469874G>T			46367875	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				0.443	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
HTR2A	3356	broad.mit.edu	37	13	47470013	47470013	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:47470013G>T	ENST00000378688.4	-	1	160	c.29C>A	c.(28-30)tCt>tAt	p.S10Y	HTR2A_ENST00000542664.1_Missense_Mutation_p.S10Y|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	10					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S10Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTCAAAGAAGTATTTTC	0.398																																					p.S10Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C29A	13						.						88.0	87.0	87.0					13																	47470013		2203	4300	6503	46368014	SO:0001583	missense	3356	exon2			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.29C>A	13.37:g.47470013G>T	ENSP00000367959:p.Ser10Tyr		46368014	NM_000621	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439827	0.63067	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	.	0.092127	0.48286	D	0.000181	T	0.40094	0.1103	L	0.27053	0.805	0.37935	D	0.932146	B	0.25719	0.132	B	0.21917	0.037	T	0.44651	-0.9314	10	0.72032	D	0.01	.	11.7818	0.52020	0.0798:0.0:0.9202:0.0	.	10	P28223	5HT2A_HUMAN	Y	10	ENSP00000367959:S10Y;ENSP00000437737:S10Y	ENSP00000367959:S10Y	S	-	2	0	HTR2A	46368014	0.981000	0.34729	0.532000	0.27989	0.997000	0.91878	4.909000	0.63314	2.574000	0.86865	0.585000	0.79938	TCT		0.398	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
SUCLA2	8803	broad.mit.edu	37	13	48528637	48528637	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48528637C>A	ENST00000378654.3	-	7	914	c.858G>T	c.(856-858)aaG>aaT	p.K286N	SUCLA2_ENST00000534875.1_Missense_Mutation_p.K228N|SUCLA2_ENST00000544100.1_Missense_Mutation_p.K152N|SUCLA2_ENST00000543413.1_Missense_Mutation_p.K228N	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	286	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.K286N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CAAAGATTTTCTTTTGGCGAT	0.383																																					p.K286N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G858T	13						.						75.0	75.0	75.0					13																	48528637		2203	4299	6502	47426638	SO:0001583	missense	8803	exon7			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.858G>T	13.37:g.48528637C>A	ENSP00000367923:p.Lys286Asn		47426638	NM_003850	B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.496133	0.64186	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.67	4.82	0.62117	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.76170	2.325	0.80722	D	1	D	0.58970	0.984	P	0.56514	0.8	T	0.80612	-0.1305	10	0.72032	D	0.01	-12.7903	13.9116	0.63871	0.0:0.9266:0.0:0.0734	.	286	Q9P2R7	SUCB1_HUMAN	N	286;264;216;138;152;228;228;114;216;138	ENSP00000367923:K286N;ENSP00000443412:K152N;ENSP00000438182:K228N;ENSP00000441056:K228N;ENSP00000392771:K216N;ENSP00000415091:K138N	ENSP00000367898:K138N	K	-	3	2	SUCLA2	47426638	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.941000	0.40233	1.523000	0.49018	0.650000	0.86243	AAG		0.383	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1		
NUDT15	55270	broad.mit.edu	37	13	48615145	48615145	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48615145C>A	ENST00000258662.2	+	2	428	c.248C>A	c.(247-249)tCt>tAt	p.S83Y		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	83	Interaction with PCNA.|Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)	p.S83Y(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GTTGTGAATTCTTTCATTGAG	0.388																																					p.S83Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C248A	13						.						73.0	70.0	71.0					13																	48615145		2203	4300	6503	47513146	SO:0001583	missense	55270	exon2				CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.248C>A	13.37:g.48615145C>A	ENSP00000258662:p.Ser83Tyr		47513146	NM_018283	A2RUR6|Q32Q27|Q6P2C9	Missense_Mutation	SNP	ENST00000258662.2	37	CCDS9407.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192240	0.78902	.	.	ENSG00000136159	ENST00000258662	T	0.12147	2.71	5.66	5.66	0.87406	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.052886	0.85682	D	0.000000	T	0.23289	0.0563	L	0.41027	1.25	0.58432	D	0.999997	D	0.55800	0.973	P	0.54174	0.744	T	0.00107	-1.2052	10	0.44086	T	0.13	-12.6931	17.2999	0.87180	0.0:1.0:0.0:0.0	.	83	Q9NV35	NUD15_HUMAN	Y	83	ENSP00000258662:S83Y	ENSP00000258662:S83Y	S	+	2	0	NUDT15	47513146	1.000000	0.71417	0.990000	0.47175	0.819000	0.46315	3.693000	0.54735	2.676000	0.91093	0.555000	0.69702	TCT		0.388	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283	
ITM2B	9445	broad.mit.edu	37	13	48830429	48830429	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48830429C>A	ENST00000378565.5	+	3	566	c.363C>A	c.(361-363)atC>atA	p.I121I	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	121	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)	p.I121I(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		ATATTAAAATCTTTGAAGAAG	0.398																																					p.I121I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363A	13						.						79.0	80.0	80.0					13																	48830429		2203	4300	6503	47728430	SO:0001819	synonymous_variant	9445	exon3			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.363C>A	13.37:g.48830429C>A			47728430	NM_021999	Q5W0A3|Q96B24|Q9NYH1	Silent	SNP	ENST00000378565.5	37	CCDS9409.1																																																																																				0.398	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999	
ITM2B	9445	broad.mit.edu	37	13	48835313	48835313	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48835313C>T	ENST00000378565.5	+	6	957	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	ITM2B_ENST00000378549.5_Missense_Mutation_p.R146W	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	252					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)	p.R252W(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTTCGCAATTCGGCATTTTGA	0.313																																					p.R252W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C754T	13						.						54.0	59.0	57.0					13																	48835313		2203	4299	6502	47733314	SO:0001583	missense	9445	exon6			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.754C>T	13.37:g.48835313C>T	ENSP00000367828:p.Arg252Trp		47733314	NM_021999	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460086	0.84317	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.17213	2.29;2.29	5.84	5.84	0.93424	.	0.109133	0.64402	D	0.000005	T	0.40719	0.1128	M	0.79011	2.435	0.58432	D	0.999996	D	0.71674	0.998	P	0.56612	0.802	T	0.24333	-1.0163	10	0.87932	D	0	-13.1067	19.1228	0.93371	0.0:1.0:0.0:0.0	.	252	Q9Y287	ITM2B_HUMAN	W	252;146	ENSP00000367828:R252W;ENSP00000367811:R146W	ENSP00000367811:R146W	R	+	1	2	ITM2B	47733314	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.172000	0.77604	2.765000	0.95021	0.655000	0.94253	CGG		0.313	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999	
RB1	5925	broad.mit.edu	37	13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	280					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E280*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTCTGTAAAGAACATGAATG	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.E280X		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	bone(11)|breast(5)|large_intestine(2)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.G838T	13	GRCh37	CM025387	RB1	M		.						72.0	79.0	76.0					13																	48937070		2203	4300	6503	47835071	SO:0001587	stop_gained	5925	exon8	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.838G>T	13.37:g.48937070G>T	ENSP00000267163:p.Glu280*		47835071	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002411	0.93227	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.17	6.17	0.99709	.	0.052818	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5813	0.61905	0.0738:0.0:0.9262:0.0	.	.	.	.	X	259;280	.	.	E	+	1	0	RB1	47835071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.641000	0.61375	2.941000	0.99782	0.655000	0.94253	GAA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RB1	5925	broad.mit.edu	37	13	48953748	48953748	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48953748C>T	ENST00000267163.4	+	14	1489	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	451	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R451C(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTGGAGTTCGCTTGTATTA	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.R451C		yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.	.	26	Whole gene deletion(15)|Unknown(8)|Substitution - Missense(3)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C1351T	13						.						21.0	22.0	22.0					13																	48953748		2201	4300	6501	47851749	SO:0001583	missense	5925	exon14	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1351C>T	13.37:g.48953748C>T	ENSP00000267163:p.Arg451Cys		47851749	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190230	0.78789	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88277	-2.36	5.74	5.74	0.90152	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.140776	0.48286	D	0.000188	D	0.94135	0.8119	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93800	0.7100	10	0.59425	D	0.04	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	451	P06400	RB_HUMAN	C	430;451	ENSP00000267163:R451C	ENSP00000267163:R451C	R	+	1	0	RB1	47851749	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	4.397000	0.59690	2.707000	0.92482	0.557000	0.71058	CGC		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
LPAR6	10161	broad.mit.edu	37	13	48985559	48985559	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48985559T>G	ENST00000378434.4	-	7	2625	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	LPAR6_ENST00000345941.2_Missense_Mutation_p.K334T|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	334						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.K334T(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TATCTTACTTTTTAAGGTCTG	0.358																																					p.K334T												.	.	20	Whole gene deletion(15)|Unknown(4)|Substitution - Missense(1)	bone(10)|breast(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.A1001C	13						.						81.0	87.0	85.0					13																	48985559		2203	4300	6503	47883560	SO:0001583	missense	10161	exon7			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.1001A>C	13.37:g.48985559T>G	ENSP00000367691:p.Lys334Thr		47883560	NM_005767	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.867618	0.32977	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.64803	-0.12;-0.12	5.25	5.25	0.73442	.	0.193868	0.40469	N	0.001096	T	0.44973	0.1319	N	0.08118	0	0.53005	D	0.999965	P	0.43094	0.799	B	0.42692	0.395	T	0.43278	-0.9401	10	0.20046	T	0.44	.	15.45	0.75265	0.0:0.0:0.0:1.0	.	334	P43657	LPAR6_HUMAN	T	334	ENSP00000367691:K334T;ENSP00000344353:K334T	ENSP00000344353:K334T	K	-	2	0	LPAR6	47883560	1.000000	0.71417	0.998000	0.56505	0.534000	0.34807	4.805000	0.62561	2.104000	0.64026	0.374000	0.22700	AAA		0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767	
LPAR6	10161	broad.mit.edu	37	13	48985676	48985676	+	Missense_Mutation	SNP	G	G	A	rs367788266		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48985676G>A	ENST00000378434.4	-	7	2508	c.884C>T	c.(883-885)tCg>tTg	p.S295L	LPAR6_ENST00000345941.2_Missense_Mutation_p.S295L|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.S295L(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AATTGTGTCCGATGTAAAGTA	0.378																																					p.S295L												.	.	20	Whole gene deletion(15)|Unknown(4)|Substitution - Missense(1)	bone(10)|breast(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C884T	13						.						75.0	80.0	78.0					13																	48985676		2203	4300	6503	47883677	SO:0001583	missense	10161	exon7			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.884C>T	13.37:g.48985676G>A	ENSP00000367691:p.Ser295Leu		47883677	NM_005767	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215812	0.58452	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.43294	0.95;0.95	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	N	0.08118	0	0.80722	D	1	P	0.43024	0.798	B	0.38458	0.274	T	0.13926	-1.0491	10	0.45353	T	0.12	.	19.8171	0.96573	0.0:0.0:1.0:0.0	.	295	P43657	LPAR6_HUMAN	L	295	ENSP00000367691:S295L;ENSP00000344353:S295L	ENSP00000344353:S295L	S	-	2	0	LPAR6	47883677	1.000000	0.71417	0.834000	0.33040	0.977000	0.68977	9.869000	0.99810	2.678000	0.91216	0.455000	0.32223	TCG		0.378	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767	
LPAR6	10161	broad.mit.edu	37	13	48986518	48986518	+	Silent	SNP	G	G	T	rs148227482	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:48986518G>T	ENST00000378434.4	-	7	1666	c.42C>A	c.(40-42)tcC>tcA	p.S14S	LPAR6_ENST00000345941.2_Silent_p.S14S|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.S14S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TGTACTTAAAGGAGTCATTAT	0.423																																					p.S14S												.	.	20	Whole gene deletion(15)|Unknown(4)|Substitution - coding silent(1)	bone(10)|breast(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.C42A	13						.						96.0	91.0	93.0					13																	48986518		2203	4300	6503	47884519	SO:0001819	synonymous_variant	10161	exon7			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.42C>A	13.37:g.48986518G>T			47884519	NM_005767	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	CCDS9410.1																																																																																				0.423	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767	
FNDC3A	22862	broad.mit.edu	37	13	49742800	49742800	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:49742800C>A	ENST00000492622.2	+	10	1394	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	FNDC3A_ENST00000398316.3_Silent_p.I307I|FNDC3A_ENST00000541916.1_Silent_p.I363I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	363	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.I363I(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AGGCTGAAATCTTTACCACCT	0.373																																					p.I363I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1089A	13						.						121.0	123.0	122.0					13																	49742800		2203	4300	6503	48640801	SO:0001819	synonymous_variant	22862	exon10			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1089C>A	13.37:g.49742800C>A			48640801	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	CCDS41886.1																																																																																				0.373	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
FNDC3A	22862	broad.mit.edu	37	13	49772671	49772671	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:49772671C>A	ENST00000492622.2	+	23	3253	c.2948C>A	c.(2947-2949)tCt>tAt	p.S983Y	FNDC3A_ENST00000398316.3_Missense_Mutation_p.S927Y|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S983Y	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	983	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.S983Y(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCAACCGATTCTATTCAGTAC	0.408																																					p.S983Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2948A	13						.						119.0	105.0	110.0					13																	49772671		2203	4300	6503	48670672	SO:0001583	missense	22862	exon23			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2948C>A	13.37:g.49772671C>A	ENSP00000417257:p.Ser983Tyr		48670672	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761540	0.49468	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56103	0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176419	0.39759	N	0.001271	T	0.46889	0.1416	L	0.45581	1.43	0.58432	D	0.999999	B;B	0.21225	0.053;0.033	B;B	0.25759	0.037;0.063	T	0.45026	-0.9289	10	0.02654	T	1	-11.3926	19.6279	0.95687	0.0:1.0:0.0:0.0	.	927;983	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	Y	983;919;983;927	ENSP00000417257:S983Y;ENSP00000441831:S983Y;ENSP00000381362:S927Y	ENSP00000338579:S919Y	S	+	2	0	FNDC3A	48670672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCT		0.408	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
CDADC1	81602	broad.mit.edu	37	13	49841638	49841638	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:49841638G>A	ENST00000251108.6	+	5	556	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CDADC1_ENST00000444959.1_5'UTR	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	148							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.R148Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GGAGTTAACCGAATTTCATAC	0.368																																					p.R148Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	13						.						71.0	71.0	71.0					13																	49841638		2203	4300	6503	48739639	SO:0001583	missense	81602	exon5			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.443G>A	13.37:g.49841638G>A	ENSP00000251108:p.Arg148Gln		48739639	NM_030911	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962364	0.74016	.	.	ENSG00000102543	ENST00000251108	T	0.47869	0.83	5.53	5.53	0.82687	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.254542	0.37715	N	0.001961	T	0.53351	0.1791	L	0.52759	1.655	0.80722	D	1	D;P	0.59767	0.986;0.949	P;P	0.48400	0.576;0.495	T	0.57447	-0.7810	10	0.87932	D	0	-10.2974	18.8171	0.92081	0.0:0.0:1.0:0.0	.	148;148	Q9BWV3;B2R742	CDAC1_HUMAN;.	Q	148	ENSP00000251108:R148Q	ENSP00000251108:R148Q	R	+	2	0	CDADC1	48739639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.611000	0.61162	2.749000	0.94314	0.655000	0.94253	CGA		0.368	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
CAB39L	81617	broad.mit.edu	37	13	49957001	49957001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:49957001C>A	ENST00000355854.4	-	2	543	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	16					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.E16*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TTCACAATTTCTGCTGGATTT	0.308																																					p.E16X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G46T	13						.						170.0	152.0	157.0					13																	49957001		1813	4075	5888	48855002	SO:0001587	stop_gained	81617	exon2			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.46G>T	13.37:g.49957001C>A	ENSP00000348113:p.Glu16*		48855002	NM_030925	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Nonsense_Mutation	SNP	ENST00000355854.4	37	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	38	7.200580	0.98132	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	.	.	.	5.88	5.88	0.94601	.	0.046805	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.7128	19.2196	0.93791	0.0:1.0:0.0:0.0	.	.	.	.	X	16;16;13;16;16;16;16;16	.	.	E	-	1	0	CAB39L	48855002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	2.789000	0.95967	0.591000	0.81541	GAA		0.308	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925	
SETDB2	83852	broad.mit.edu	37	13	50050778	50050778	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:50050778A>C	ENST00000317257.8	+	7	1333	c.508A>C	c.(508-510)Aaa>Caa	p.K170Q	SETDB2_ENST00000354234.4_Missense_Mutation_p.K158Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.K158Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	170	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.K170Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GCTGCCAATCAAATGTCACTT	0.438																																					p.K158Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A472C	13						.						96.0	92.0	93.0					13																	50050778		2203	4300	6503	48948779	SO:0001583	missense	83852	exon5			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.508A>C	13.37:g.50050778A>C	ENSP00000326477:p.Lys170Gln		48948779	NM_001160308	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887872	0.33348	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.99311	-5.73;-5.73;-5.73	5.96	2.03	0.26663	Methyl-CpG DNA binding (2);DNA-binding, integrase-type (1);	0.447241	0.26967	N	0.021592	D	0.94716	0.8295	N	0.03608	-0.345	0.20403	N	0.999906	P;P;P	0.44344	0.763;0.799;0.833	B;B;B	0.43508	0.229;0.297;0.422	D	0.92969	0.6396	10	0.13470	T	0.59	.	6.1774	0.20451	0.364:0.4088:0.0:0.2272	.	170;158;170	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	Q	158;170;158	ENSP00000346175:K158Q;ENSP00000326477:K170Q;ENSP00000258672:K158Q	ENSP00000258672:K158Q	K	+	1	0	SETDB2	48948779	0.199000	0.23386	0.988000	0.46212	0.838000	0.47535	1.185000	0.32065	1.048000	0.40298	0.533000	0.62120	AAA		0.438	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915	
TRIM13	10206	broad.mit.edu	37	13	50586951	50586951	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:50586951T>C	ENST00000378182.3	+	2	1613	c.875T>C	c.(874-876)gTc>gCc	p.V292A	TRIM13_ENST00000420995.2_Missense_Mutation_p.V292A|TRIM13_ENST00000356017.4_Missense_Mutation_p.V295A|TRIM13_ENST00000298772.5_Missense_Mutation_p.V295A|KCNRG_ENST00000360473.4_5'Flank|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000457662.2_Missense_Mutation_p.V292A|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	292					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V292A(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ATAAAACTAGTCGATGTGGAT	0.393																																					p.V292A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T875C	13						.						173.0	183.0	180.0					13																	50586951		2203	4300	6503	49484952	SO:0001583	missense	10206	exon3			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.875T>C	13.37:g.50586951T>C	ENSP00000367424:p.Val292Ala		49484952	NM_005798	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	T	0.582	-0.836536	0.02692	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.24350	1.86;1.86;2.4;1.86;2.4	5.75	5.75	0.90469	.	0.193579	0.43579	D	0.000548	T	0.15262	0.0368	N	0.24115	0.695	0.29215	N	0.874332	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12967	-1.0527	9	.	.	.	-5.4112	7.2282	0.26028	0.0:0.0732:0.1472:0.7796	.	292;295	O60858;O60858-3	TRI13_HUMAN;.	A	292;292;295;292;295	ENSP00000412943:V292A;ENSP00000367424:V292A;ENSP00000348299:V295A;ENSP00000399206:V292A;ENSP00000298772:V295A	.	V	+	2	0	TRIM13	49484952	0.994000	0.37717	0.972000	0.41901	0.963000	0.63663	1.617000	0.36943	2.188000	0.69820	0.533000	0.62120	GTC		0.393	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
TRIM13	10206	broad.mit.edu	37	13	50587237	50587237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:50587237G>T	ENST00000378182.3	+	2	1899	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	TRIM13_ENST00000420995.2_Missense_Mutation_p.K387N|TRIM13_ENST00000356017.4_Missense_Mutation_p.K390N|TRIM13_ENST00000298772.5_Missense_Mutation_p.K390N|KCNRG_ENST00000360473.4_5'Flank|KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000457662.2_Missense_Mutation_p.K387N|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	387					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K387N(1)		large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AAAGATTCAAGAATTTTACTT	0.318																																					p.K387N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1161T	13						.						85.0	93.0	91.0					13																	50587237		2203	4299	6502	49485238	SO:0001583	missense	10206	exon3			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.1161G>T	13.37:g.50587237G>T	ENSP00000367424:p.Lys387Asn		49485238	NM_005798	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	ENST00000378182.3	37	CCDS9423.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428106	0.25726	.	.	ENSG00000204977	ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T	0.28255	1.62;1.62;2.16;1.62;2.16	5.81	4.06	0.47325	.	0.249776	0.40908	D	0.001000	T	0.20251	0.0487	L	0.27053	0.805	0.34692	D	0.725879	B;B	0.25609	0.079;0.13	B;B	0.28849	0.044;0.095	T	0.22312	-1.0220	9	.	.	.	-6.5883	8.3216	0.32132	0.3026:0.0:0.6974:0.0	.	387;390	O60858;O60858-3	TRI13_HUMAN;.	N	387;387;390;387;390	ENSP00000412943:K387N;ENSP00000367424:K387N;ENSP00000348299:K390N;ENSP00000399206:K387N;ENSP00000298772:K390N	.	K	+	3	2	TRIM13	49485238	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	1.009000	0.29886	0.775000	0.33450	0.655000	0.94253	AAG		0.318	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354875.1	NM_001007278	
FAM124A	220108	broad.mit.edu	37	13	51825727	51825727	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:51825727A>G	ENST00000322475.8	+	3	359	c.224A>G	c.(223-225)gAc>gGc	p.D75G	FAM124A_ENST00000280057.6_Missense_Mutation_p.D111G	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	75								p.D111G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ATCCACCCCGACCTCCCGCTG	0.692																																					p.D111G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	13						.						18.0	17.0	18.0					13																	51825727		2201	4295	6496	50723728	SO:0001583	missense	220108	exon4			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.224A>G	13.37:g.51825727A>G	ENSP00000324625:p.Asp75Gly		50723728	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493646	0.64186	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.50001	0.76;0.76	5.79	4.61	0.57282	.	0.104679	0.64402	D	0.000006	T	0.54159	0.1841	M	0.61703	1.905	0.54753	D	0.999987	P;B;P	0.51351	0.944;0.197;0.51	P;B;B	0.50825	0.651;0.09;0.23	T	0.57556	-0.7791	10	0.87932	D	0	-5.3193	11.0341	0.47791	0.9275:0.0:0.0725:0.0	.	75;111;75	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	G	75;111	ENSP00000324625:D75G;ENSP00000280057:D111G	ENSP00000280057:D111G	D	+	2	0	FAM124A	50723728	1.000000	0.71417	0.744000	0.31058	0.753000	0.42808	6.916000	0.75776	1.022000	0.39626	-0.256000	0.11100	GAC		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
INTS6	26512	broad.mit.edu	37	13	51950187	51950187	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:51950187C>T	ENST00000311234.4	-	13	2198	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	INTS6_ENST00000490542.1_Missense_Mutation_p.E260K|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.E398K|INTS6_ENST00000425000.1_Missense_Mutation_p.E144K|INTS6_ENST00000398119.2_Missense_Mutation_p.E563K	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	576					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.E576K(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TTCTAACCTTCGTCCTGTCCT	0.313																																					p.E576K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1726A	13						.						80.0	79.0	79.0					13																	51950187		2203	4300	6503	50848188	SO:0001583	missense	26512	exon13			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1726G>A	13.37:g.51950187C>T	ENSP00000310260:p.Glu576Lys		50848188	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010326	0.93346	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.48	5.48	0.80851	.	0.157109	0.56097	D	0.000023	T	0.40767	0.1130	L	0.45698	1.435	0.80722	D	1	P	0.48162	0.906	B	0.41860	0.368	T	0.18745	-1.0327	10	0.31617	T	0.26	.	18.3392	0.90299	0.0:1.0:0.0:0.0	.	576	Q9UL03	INT6_HUMAN	K	576;563;398;144;260	ENSP00000310260:E576K;ENSP00000381187:E563K;ENSP00000419871:E398K;ENSP00000406915:E144K;ENSP00000419984:E260K	ENSP00000310260:E576K	E	-	1	0	INTS6	50848188	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.987000	0.49378	2.579000	0.87056	0.650000	0.86243	GAA		0.313	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
INTS6	26512	broad.mit.edu	37	13	51961531	51961531	+	Silent	SNP	C	C	T	rs142545429		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:51961531C>T	ENST00000311234.4	-	7	1357	c.885G>A	c.(883-885)tcG>tcA	p.S295S	INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Silent_p.S117S|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Silent_p.S282S	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	295					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.S295S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTAGTGTTGGCGAATTTTGAT	0.378																																					p.S295S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G885A	13						.	C	,	2,4404	4.2+/-10.8	0,2,2201	95.0	87.0	90.0		846,885	2.6	1.0	13	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	INTS6	NM_001039937.1,NM_012141.2	,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,	282/875,295/888	51961531	4,13002	2203	4300	6503	50859532	SO:0001819	synonymous_variant	26512	exon7			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.885G>A	13.37:g.51961531C>T			50859532	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	ENST00000311234.4	37	CCDS9428.1																																																																																				0.378	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
CCDC70	83446	broad.mit.edu	37	13	52439852	52439852	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52439852C>A	ENST00000242819.4	+	2	634	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	113						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.S113Y(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		ATGGAAAAGTCTTTCAGGGAG	0.468																																					p.S113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C338A	13						.						83.0	97.0	92.0					13																	52439852		2203	4300	6503	51337853	SO:0001583	missense	83446	exon2				CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.338C>A	13.37:g.52439852C>A	ENSP00000242819:p.Ser113Tyr		51337853	NM_031290	Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.784037	0.31593	.	.	ENSG00000123171	ENST00000242819	T	0.42900	0.96	5.83	3.16	0.36331	.	0.632765	0.15607	N	0.253567	T	0.49712	0.1573	M	0.65975	2.015	0.09310	N	1	D	0.59767	0.986	P	0.54100	0.742	T	0.41324	-0.9515	10	0.72032	D	0.01	-12.9497	5.9485	0.19232	0.1365:0.6436:0.1447:0.0752	.	113	Q6NSX1	CCD70_HUMAN	Y	113	ENSP00000242819:S113Y	ENSP00000242819:S113Y	S	+	2	0	CCDC70	51337853	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.461000	0.21940	0.377000	0.24735	-0.181000	0.13052	TCT		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290	
ATP7B	540	broad.mit.edu	37	13	52549227	52549227	+	Silent	SNP	G	G	C			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52549227G>C	ENST00000242839.4	-	2	285	c.129C>G	c.(127-129)ggC>ggG	p.G43G	ATP7B_ENST00000482841.1_5'Flank|ATP7B_ENST00000344297.5_Silent_p.G43G|ATP7B_ENST00000400370.3_Silent_p.G43G|ATP7B_ENST00000418097.2_Silent_p.G43G|ATP7B_ENST00000448424.2_Silent_p.G43G|ATP7B_ENST00000542656.1_Silent_p.G11G|ATP7B_ENST00000400366.3_Silent_p.G43G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	43					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.G43G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CACCTTCATAGCCAACATTGT	0.463									Wilson disease																												p.G43G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C129G	13						.						100.0	101.0	101.0					13																	52549227		1971	4130	6101	51447228	SO:0001819	synonymous_variant	540	exon2	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.129C>G	13.37:g.52549227G>C			51447228	NM_000053	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	CCDS41892.1																																																																																				0.463	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
UTP14C	9724	broad.mit.edu	37	13	52603501	52603501	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52603501T>G	ENST00000521776.2	+	2	1294	c.561T>G	c.(559-561)atT>atG	p.I187M	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	187					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.I187M(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGGAAATTTTTAACCTCC	0.527																																					p.I187M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T561G	13						.						75.0	76.0	76.0					13																	52603501		2203	4300	6503	51501502	SO:0001583	missense	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.561T>G	13.37:g.52603501T>G	ENSP00000428619:p.Ile187Met		51501502	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.682710	0.47991	.	.	ENSG00000253797	ENST00000521776	T	0.26373	1.74	2.24	2.24	0.28232	.	0.260598	0.42964	D	0.000627	T	0.43787	0.1263	M	0.72118	2.19	0.36530	D	0.870685	D	0.67145	0.996	D	0.70227	0.968	T	0.53165	-0.8477	10	0.87932	D	0	-0.606	8.0157	0.30379	0.0:0.0:0.0:1.0	.	187	Q5TAP6	UT14C_HUMAN	M	187	ENSP00000428619:I187M	ENSP00000428619:I187M	I	+	3	3	UTP14C	51501502	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.275000	0.33144	1.043000	0.40175	0.368000	0.22195	ATT		0.527	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
UTP14C	9724	broad.mit.edu	37	13	52603942	52603942	+	Missense_Mutation	SNP	G	G	T	rs370282802		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52603942G>T	ENST00000521776.2	+	2	1735	c.1002G>T	c.(1000-1002)caG>caT	p.Q334H		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	334					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.Q334H(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AACTGACACAGAAACTCCAGG	0.502																																					p.Q334H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1002T	13						.						106.0	104.0	105.0					13																	52603942		2203	4300	6503	51501943	SO:0001583	missense	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1002G>T	13.37:g.52603942G>T	ENSP00000428619:p.Gln334His		51501943	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195311	0.22037	.	.	ENSG00000253797	ENST00000521776	T	0.19250	2.16	2.58	2.58	0.30949	.	0.263218	0.39020	N	0.001494	T	0.26593	0.0650	M	0.80028	2.48	0.47511	D	0.999443	B	0.22003	0.063	B	0.27076	0.076	T	0.09552	-1.0669	9	.	.	.	-22.2978	10.8649	0.46849	0.0:0.0:1.0:0.0	.	334	Q5TAP6	UT14C_HUMAN	H	334	ENSP00000428619:Q334H	.	Q	+	3	2	UTP14C	51501943	1.000000	0.71417	0.080000	0.20451	0.331000	0.28603	4.032000	0.57274	1.460000	0.47911	0.448000	0.29417	CAG		0.502	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
UTP14C	9724	broad.mit.edu	37	13	52604655	52604655	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52604655C>A	ENST00000521776.2	+	2	2448	c.1715C>A	c.(1714-1716)tCt>tAt	p.S572Y		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	572					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.S572Y(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCCGTGAGGTCTTTGGCAGTT	0.478																																					p.S572Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1715A	13						.						90.0	90.0	90.0					13																	52604655		2203	4300	6503	51502656	SO:0001583	missense	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1715C>A	13.37:g.52604655C>A	ENSP00000428619:p.Ser572Tyr		51502656	NM_021645	Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109441	0.37242	.	.	ENSG00000253797	ENST00000521776	T	0.18657	2.2	2.9	2.03	0.26663	.	0.274140	0.42964	D	0.000628	T	0.44008	0.1273	M	0.87180	2.865	0.20196	N	0.999924	D	0.71674	0.998	D	0.71184	0.972	T	0.22836	-1.0205	9	.	.	.	-13.1265	5.9899	0.19454	0.0:0.8443:0.0:0.1557	.	572	Q5TAP6	UT14C_HUMAN	Y	572	ENSP00000428619:S572Y	.	S	+	2	0	UTP14C	51502656	0.003000	0.15002	0.972000	0.41901	0.734000	0.41952	0.732000	0.26072	0.549000	0.28973	0.455000	0.32223	TCT		0.478	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
UTP14C	9724	broad.mit.edu	37	13	52604761	52604761	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52604761C>T	ENST00000521776.2	+	2	2554	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	607					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)		p.F607F(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCAGAGATTTCTTGAAAGAGA	0.517																																					p.F607F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1821T	13						.						80.0	87.0	85.0					13																	52604761		2203	4297	6500	51502762	SO:0001819	synonymous_variant	9724	exon2			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1821C>T	13.37:g.52604761C>T			51502762	NM_021645	Q5FWG3|Q92555	Silent	SNP	ENST00000521776.2	37	CCDS31978.1																																																																																				0.517	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645	
NEK5	341676	broad.mit.edu	37	13	52682524	52682524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52682524G>A	ENST00000355568.4	-	8	623	c.484C>T	c.(484-486)Cga>Tga	p.R162*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R219*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATACAAGTTCGAGCAAGTTCC	0.333																																					p.R162X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C484T	13						.						120.0	115.0	117.0					13																	52682524		2203	4300	6503	51580525	SO:0001587	stop_gained	341676	exon8			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.484C>T	13.37:g.52682524G>A	ENSP00000347767:p.Arg162*		51580525	NM_199289	Q5TAP5	Nonsense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368213	0.82463	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.39	1.18	0.20946	.	0.676087	0.12574	N	0.457053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8458	0.29424	0.1052:0.0:0.4307:0.4641	.	.	.	.	X	162	.	ENSP00000347767:R162X	R	-	1	2	NEK5	51580525	0.969000	0.33509	0.905000	0.35620	0.998000	0.95712	0.452000	0.21795	0.177000	0.19895	0.557000	0.71058	CGA		0.333	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
NEK3	4752	broad.mit.edu	37	13	52725364	52725364	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:52725364C>T	ENST00000400357.2	-	6	1758	c.465G>A	c.(463-465)ccG>ccA	p.P155P	NEK3_ENST00000378101.2_Silent_p.P155P|NEK3_ENST00000339406.3_Silent_p.P155P|NEK3_ENST00000452082.2_Silent_p.P176P			P51956	NEK3_HUMAN	NIMA-related kinase 3	155	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.P155P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CAAATGCCATCGGACTAAAAC	0.373																																					p.P155P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	13						.						100.0	87.0	91.0					13																	52725364		1880	4113	5993	51623365	SO:0001819	synonymous_variant	4752	exon7			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.465G>A	13.37:g.52725364C>T			51623365	NM_001146099	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Silent	SNP	ENST00000400357.2	37	CCDS53871.1																																																																																				0.373	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3		
PCDH8	5100	broad.mit.edu	37	13	53418722	53418722	+	Silent	SNP	C	C	T	rs199906293		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:53418722C>T	ENST00000377942.3	-	3	3389	c.3186G>A	c.(3184-3186)ccG>ccA	p.P1062P	PCDH8_ENST00000338862.4_Silent_p.P965P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1062					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.P1062P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCCCTTCTTCGGGGACAGGT	0.552																																					p.P965P	GBM(36;25 841 9273 49207)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2895A	13						.	C	,	1,4405	2.1+/-5.4	0,1,2202	57.0	62.0	60.0		3186,2895	-5.8	0.9	13		60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PCDH8	NM_002590.3,NM_032949.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1062/1071,965/974	53418722	1,13005	2203	4300	6503	52316723	SO:0001819	synonymous_variant	5100	exon3			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.3186G>A	13.37:g.53418722C>T			52316723	NM_032949	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	CCDS9438.1																																																																																				0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
PCDH17	27253	broad.mit.edu	37	13	58207197	58207197	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:58207197C>T	ENST00000377918.3	+	1	543	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	173	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.R173C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTGCTCACGCGCGACGATCA	0.652																																					p.R173C	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	13						.						36.0	37.0	37.0					13																	58207197		2203	4300	6503	57105198	SO:0001583	missense	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.517C>T	13.37:g.58207197C>T	ENSP00000367151:p.Arg173Cys		57105198	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041225	0.75732	.	.	ENSG00000118946	ENST00000377918	T	0.59906	0.23	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	N	0.02721	-0.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.983;0.995	T	0.60885	-0.7174	9	.	.	.	.	18.3899	0.90479	0.0:1.0:0.0:0.0	.	173;173	O14917-2;O14917	.;PCD17_HUMAN	C	173	ENSP00000367151:R173C	.	R	+	1	0	PCDH17	57105198	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	4.291000	0.59025	2.589000	0.87451	0.650000	0.86243	CGC		0.652	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58299275	58299275	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:58299275G>T	ENST00000377918.3	+	4	3353	c.3327G>T	c.(3325-3327)cgG>cgT	p.R1109R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1109R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCCAGCCGGGATTCCAGTG	0.522																																					p.R1109R	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3327T	13						.						158.0	160.0	159.0					13																	58299275		2203	4300	6503	57197276	SO:0001819	synonymous_variant	27253	exon4			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3327G>T	13.37:g.58299275G>T			57197276	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.522	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
TDRD3	81550	broad.mit.edu	37	13	61060050	61060050	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:61060050G>A	ENST00000196169.3	+	7	1194	c.406G>A	c.(406-408)Gct>Act	p.A136T	TDRD3_ENST00000377881.2_Missense_Mutation_p.A136T|TDRD3_ENST00000377894.2_Missense_Mutation_p.A136T|TDRD3_ENST00000535286.1_Missense_Mutation_p.A229T	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	136					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.A136T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GCAAAGGACGGCTGCTATTGC	0.338																																					p.A136T	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G406A	13						.						88.0	82.0	84.0					13																	61060050		2202	4300	6502	59958051	SO:0001583	missense	81550	exon7			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.406G>A	13.37:g.61060050G>A	ENSP00000196169:p.Ala136Thr		59958051	NM_001146071	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260836	0.95368	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.5	5.54	5.54	0.83059	.	0.052188	0.85682	D	0.000000	D	0.96654	0.8908	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.993	D	0.94812	0.7979	10	0.20046	T	0.44	-4.1563	19.5087	0.95132	0.0:0.0:1.0:0.0	.	229;135;136	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	T	136;136;136;229	ENSP00000196169:A136T;ENSP00000367113:A136T;ENSP00000367126:A136T;ENSP00000440190:A229T	ENSP00000196169:A136T	A	+	1	0	TDRD3	59958051	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.395000	0.97266	2.610000	0.88304	0.655000	0.94253	GCT		0.338	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
TDRD3	81550	broad.mit.edu	37	13	61141677	61141677	+	Missense_Mutation	SNP	G	G	A	rs544622581		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:61141677G>A	ENST00000196169.3	+	13	2646	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	TDRD3_ENST00000377894.2_Missense_Mutation_p.D620N|TDRD3_ENST00000535286.1_Missense_Mutation_p.D713N|TDRD3_ENST00000377881.2_Missense_Mutation_p.D620N	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	620					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.D620N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGCACCTACGATCAAACTCT	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14171	0.0		0.0	False		,,,				2504	0.0				p.D620N	Colon(36;164 906 35820 50723)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1858A	13						.						77.0	69.0	71.0					13																	61141677		2203	4300	6503	60039678	SO:0001583	missense	81550	exon13			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1858G>A	13.37:g.61141677G>A	ENSP00000196169:p.Asp620Asn		60039678	NM_001146071	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535226	0.64972	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.94417	-3.41;-3.41;-3.41;-3.42	6.17	4.45	0.53987	.	0.150682	0.64402	D	0.000012	D	0.90181	0.6931	N	0.14661	0.345	0.33554	D	0.596531	D;D;D	0.57899	0.98;0.975;0.981	P;P;P	0.48815	0.564;0.56;0.591	D	0.91980	0.5594	10	0.54805	T	0.06	-16.0429	10.9765	0.47469	0.0677:0.0:0.8024:0.1299	.	713;619;620	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	N	620;620;620;713	ENSP00000196169:D620N;ENSP00000367113:D620N;ENSP00000367126:D620N;ENSP00000440190:D713N	ENSP00000196169:D620N	D	+	1	0	TDRD3	60039678	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	6.885000	0.75606	0.932000	0.37266	0.655000	0.94253	GAT		0.448	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794	
PCDH9	5101	broad.mit.edu	37	13	67800973	67800973	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:67800973C>T	ENST00000377865.2	-	1	1734	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E534K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E534K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E534K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E534K			Q9HC56	PCDH9_HUMAN	protocadherin 9	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E534K(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGTTCTTGTTCTTCTCTGTCA	0.453																																					p.E534K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1600A	13						.						89.0	91.0	90.0					13																	67800973		2203	4300	6503	66698974	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1600G>A	13.37:g.67800973C>T	ENSP00000367096:p.Glu534Lys		66698974	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888550	0.17540	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.049677	0.85682	D	0.000000	T	0.32675	0.0837	N	0.05510	-0.035	0.80722	D	1	B;B;B;B	0.11235	0.004;0.001;0.001;0.002	B;B;B;B	0.14023	0.01;0.006;0.004;0.006	T	0.10291	-1.0636	10	0.23302	T	0.38	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	534;534;534;534	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	534	ENSP00000442186:E534K;ENSP00000367096:E534K;ENSP00000401699:E534K;ENSP00000332060:E534K;ENSP00000367092:E534K	ENSP00000332060:E534K	E	-	1	0	PCDH9	66698974	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.894000	0.99253	0.655000	0.94253	GAA		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
PCDH9	5101	broad.mit.edu	37	13	67801368	67801368	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:67801368A>C	ENST00000377865.2	-	1	1339	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	PCDH9_ENST00000328454.5_Missense_Mutation_p.F402C|PCDH9_ENST00000377861.3_Missense_Mutation_p.F402C|PCDH9_ENST00000456367.1_Missense_Mutation_p.F402C|PCDH9_ENST00000544246.1_Missense_Mutation_p.F402C			Q9HC56	PCDH9_HUMAN	protocadherin 9	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F402C(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCTTTCAATAAAACAGATCAC	0.388																																					p.F402C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1205G	13						.						95.0	91.0	93.0					13																	67801368		2203	4300	6503	66699369	SO:0001583	missense	5101	exon2			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1205T>G	13.37:g.67801368A>C	ENSP00000367096:p.Phe402Cys		66699369	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034658	0.35893	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.984;0.992;0.993;0.996	T	0.75139	-0.3423	10	0.56958	D	0.05	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	402;402;402;402	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	C	402	ENSP00000442186:F402C;ENSP00000367096:F402C;ENSP00000401699:F402C;ENSP00000332060:F402C;ENSP00000367092:F402C	ENSP00000332060:F402C	F	-	2	0	PCDH9	66699369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.327000	0.79147	2.371000	0.80710	0.533000	0.62120	TTT		0.388	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
BORA	79866	broad.mit.edu	37	13	73305523	73305523	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:73305523T>C	ENST00000390667.5	+	3	355	c.258T>C	c.(256-258)tcT>tcC	p.S86S	BORA_ENST00000377815.3_Intron|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	86					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.S86S(1)									TAAGTCATTCTCGGTAAGTTT	0.338																																					p.S86S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T258C	13						.						101.0	93.0	95.0					13																	73305523		1815	4075	5890	72203524	SO:0001819	synonymous_variant	79866	exon3			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.258T>C	13.37:g.73305523T>C			72203524	NM_024808	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392180	0.42410	.	.	ENSG00000136122	ENST00000377814	T	0.47528	0.84	5.86	1.97	0.26223	.	0.099394	0.64402	D	0.000002	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18398	-1.0338	7	0.33940	T	0.23	-24.5517	1.4822	0.02439	0.1515:0.1231:0.315:0.4104	.	.	.	.	P	64	ENSP00000367045:S64P	ENSP00000367045:S64P	S	+	1	0	BORA	72203524	0.954000	0.32549	1.000000	0.80357	0.996000	0.88848	-0.038000	0.12144	0.506000	0.28125	0.528000	0.53228	TCG		0.338	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	
DIS3	22894	broad.mit.edu	37	13	73347916	73347916	+	Missense_Mutation	SNP	C	C	T	rs139907646		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:73347916C>T	ENST00000377767.4	-	8	1245	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	DIS3_ENST00000545453.1_Missense_Mutation_p.R220Q|DIS3_ENST00000377780.4_Missense_Mutation_p.R352Q	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	382					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.R382Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TATGCGAATTCGAGGGATTCT	0.383										Multiple Myeloma(4;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		14678	0.0		0.0	False		,,,				2504	0.001				p.R352Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	13						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	102.0	99.0	100.0		1055,1145	5.4	1.0	13	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	DIS3	NM_001128226.1,NM_014953.3	43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	352/929,382/959	73347916	3,13003	2203	4300	6503	72245917	SO:0001583	missense	22894	exon8			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1145G>A	13.37:g.73347916C>T	ENSP00000366997:p.Arg382Gln		72245917	NM_001128226	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984270	0.97173	0.0	3.49E-4	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.29655	1.56;1.56;1.56	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.74546	2.27	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.61070	0.883;0.767	T	0.56768	-0.7924	10	0.59425	D	0.04	.	19.6384	0.95746	0.0:1.0:0.0:0.0	.	352;382	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	Q	382;352;220	ENSP00000366997:R382Q;ENSP00000367011:R352Q;ENSP00000440058:R220Q	ENSP00000366997:R382Q	R	-	2	0	DIS3	72245917	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.674000	0.68117	2.703000	0.92315	0.655000	0.94253	CGA		0.383	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953	
TBC1D4	9882	broad.mit.edu	37	13	75861108	75861108	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:75861108C>T	ENST00000377636.3	-	21	4063	c.3717G>A	c.(3715-3717)acG>acA	p.T1239T	TBC1D4_ENST00000431480.2_Silent_p.T1231T|TBC1D4_ENST00000377625.2_Silent_p.T1176T|TBC1D4_ENST00000425511.1_Silent_p.T403T	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1239					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.T1239T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TGGTCTCTCTCGTCAAAAGAT	0.433																																					p.T1239T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3717A	13						.						121.0	114.0	116.0					13																	75861108		1814	4082	5896	74759109	SO:0001819	synonymous_variant	9882	exon21			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3717G>A	13.37:g.75861108C>T			74759109	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	CCDS41901.1																																																																																				0.433	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
TBC1D4	9882	broad.mit.edu	37	13	75898521	75898521	+	Nonsense_Mutation	SNP	G	G	A	rs61736969	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:75898521G>A	ENST00000377636.3	-	11	2396	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.R684*|TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	684	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.R684*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACATGCGTCGAACTGACGAA	0.388																																					p.R684X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2050T	13						.						102.0	105.0	104.0					13																	75898521		1878	4111	5989	74796522	SO:0001587	stop_gained	9882	exon11			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2050C>T	13.37:g.75898521G>A	ENSP00000366863:p.Arg684*		74796522	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Nonsense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	44	10.749347	0.99460	.	.	ENSG00000136111	ENST00000377636;ENST00000431480	.	.	.	5.47	4.61	0.57282	.	0.431976	0.19338	N	0.116720	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-8.6451	16.3903	0.83532	0.0:0.1316:0.8684:0.0	.	.	.	.	X	684	.	ENSP00000366863:R684X	R	-	1	2	TBC1D4	74796522	1.000000	0.71417	0.916000	0.36221	0.984000	0.73092	2.755000	0.47540	1.293000	0.44690	0.650000	0.86243	CGA		0.388	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
TBC1D4	9882	broad.mit.edu	37	13	75933935	75933935	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:75933935C>A	ENST00000377636.3	-	3	1486	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	TBC1D4_ENST00000431480.2_Missense_Mutation_p.K380N|TBC1D4_ENST00000377625.2_Missense_Mutation_p.K380N|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	380	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.K380N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTAAAATTCTTTTCTAGCA	0.303																																					p.K380N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1140T	13						.						72.0	71.0	71.0					13																	75933935		1800	4067	5867	74831936	SO:0001583	missense	9882	exon3			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1140G>T	13.37:g.75933935C>A	ENSP00000366863:p.Lys380Asn		74831936	NM_014832	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143726	0.94603	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19532	2.14;2.14;2.14	5.86	5.86	0.93980	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.51924	0.1703	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50423	-0.8830	10	0.87932	D	0	-39.2984	20.5632	0.99335	0.0:1.0:0.0:0.0	.	380;380;380	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	N	380	ENSP00000366863:K380N;ENSP00000395986:K380N;ENSP00000366852:K380N	ENSP00000366852:K380N	K	-	3	2	TBC1D4	74831936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.065000	0.57513	2.937000	0.99478	0.650000	0.86243	AAG		0.303	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832	
UCHL3	7347	broad.mit.edu	37	13	76141439	76141439	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:76141439G>T	ENST00000377595.3	+	5	447	c.417G>T	c.(415-417)gaG>gaT	p.E139D	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	139					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E139D(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GATACCTGGAGAACTATGATG	0.403																																					p.E139D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	13						.						134.0	132.0	133.0					13																	76141439		2203	4300	6503	75039440	SO:0001583	missense	7347	exon5			M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.417G>T	13.37:g.76141439G>T	ENSP00000366819:p.Glu139Asp		75039440	NM_006002	B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165342	0.57476	.	.	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.56611	0.45;0.45	6.08	4.12	0.48240	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.098362	0.64402	D	0.000001	T	0.53142	0.1778	M	0.86178	2.8	0.58432	D	0.999991	P	0.37663	0.604	B	0.38156	0.266	T	0.59762	-0.7393	10	0.59425	D	0.04	-16.0933	4.5467	0.12085	0.4112:0.0:0.5888:0.0	.	139	P15374	UCHL3_HUMAN	D	139;96;73	ENSP00000366819:E139D;ENSP00000398189:E73D	ENSP00000366813:E96D	E	+	3	2	UCHL3	75039440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.179000	0.42528	1.586000	0.49944	0.655000	0.94253	GAG		0.403	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002	
LMO7	4008	broad.mit.edu	37	13	76374929	76374929	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:76374929G>T	ENST00000341547.4	+	8	1988	c.728G>T	c.(727-729)aGa>aTa	p.R243I	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.R243I|LMO7_ENST00000526202.1_Missense_Mutation_p.R152I|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.R243I|LMO7_ENST00000465261.2_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	243					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R243I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CACCATAAGAGAGAAGATTCC	0.512																																					p.R243I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728T	13						.						152.0	154.0	153.0					13																	76374929		2203	4300	6503	75272930	SO:0001583	missense	4008	exon8			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.728G>T	13.37:g.76374929G>T	ENSP00000342112:p.Arg243Ile		75272930	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437578	0.96168	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.55588	1.12;0.84;0.85;0.59;0.51	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	M	0.75777	2.31	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.982	D;D;P	0.79108	0.986;0.992;0.73	T	0.75903	-0.3153	10	0.87932	D	0	-19.641	20.089	0.97809	0.0:0.0:1.0:0.0	.	152;243;191	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	I	243;243;243;191;152	ENSP00000342112:R243I;ENSP00000349571:R243I;ENSP00000366757:R243I;ENSP00000366719:R191I;ENSP00000431129:R152I	ENSP00000342112:R243I	R	+	2	0	LMO7	75272930	1.000000	0.71417	0.962000	0.40283	0.868000	0.49771	6.102000	0.71486	2.765000	0.95021	0.591000	0.81541	AGA		0.512	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
LMO7	4008	broad.mit.edu	37	13	76379723	76379723	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:76379723A>G	ENST00000321797.8	+	7	1045	c.324A>G	c.(322-324)atA>atG	p.I108M	LMO7_ENST00000357063.3_Missense_Mutation_p.I393M|LMO7_ENST00000526202.1_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.I393M|LMO7_ENST00000465261.2_Missense_Mutation_p.I108M|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	393	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I393M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAGAAGCATACCCAACATTG	0.448																																					p.I108M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A324G	13						.						278.0	248.0	257.0					13																	76379723		1568	3582	5150	75277724	SO:0001583	missense	4008	exon6			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.324A>G	13.37:g.76379723A>G	ENSP00000317802:p.Ile108Met		75277724	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Intron	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	A	7.517	0.655916	0.14580	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.93	-7.47	0.01365	.	1.031100	0.07598	N	0.923227	T	0.19765	0.0475	N	0.04203	-0.255	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.11567	-1.0582	10	0.30854	T	0.27	0.1788	0.7144	0.00929	0.2258:0.2293:0.2896:0.2553	.	108	E9PLH4	.	M	393;393;108;108;108	ENSP00000349571:I393M;ENSP00000366757:I393M;ENSP00000317802:I108M;ENSP00000433352:I108M;ENSP00000432269:I108M	ENSP00000317802:I108M	I	+	3	3	LMO7	75277724	0.000000	0.05858	0.003000	0.11579	0.770000	0.43624	-2.144000	0.01296	-0.835000	0.04234	0.460000	0.39030	ATA		0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
KCTD12	115207	broad.mit.edu	37	13	77459446	77459446	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77459446C>T	ENST00000377474.2	-	1	1079	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Missense_Mutation_p.A280T	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	280					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)	p.A280T(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TTGTCGAAGGCCTGCTCCAGG	0.632											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A280T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	13						.						48.0	41.0	43.0					13																	77459446		2203	4300	6503	76357447	SO:0001583	missense	115207	exon1			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.838G>A	13.37:g.77459446C>T	ENSP00000366694:p.Ala280Thr	1175	76357447	NM_138444		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227797	0.95173	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.64085	-0.08;-0.08	4.84	4.84	0.62591	.	0.049892	0.85682	N	0.000000	T	0.80093	0.4560	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82772	-0.0292	10	0.66056	D	0.02	.	17.9207	0.88965	0.0:1.0:0.0:0.0	.	280	Q96CX2	KCD12_HUMAN	T	280	ENSP00000366694:A280T;ENSP00000317141:A280T	ENSP00000317141:A280T	A	-	1	0	KCTD12	76357447	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.582000	0.82546	2.399000	0.81585	0.462000	0.41574	GCC		0.632	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444	
FBXL3	26224	broad.mit.edu	37	13	77581687	77581687	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77581687A>C	ENST00000355619.5	-	5	1204	c.880T>G	c.(880-882)Ttt>Gtt	p.F294V	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	294					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.F294V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCATATAAAAAAAAATACATC	0.413																																					p.F294V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T880G	13						.						72.0	73.0	73.0					13																	77581687		2203	4300	6503	76479688	SO:0001583	missense	26224	exon5			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.880T>G	13.37:g.77581687A>C	ENSP00000347834:p.Phe294Val		76479688	NM_012158	B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211739	0.58452	.	.	ENSG00000005812	ENST00000355619	T	0.21361	2.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.66939	2.045	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.15464	-1.0436	10	0.15952	T	0.53	-24.2553	16.8222	0.85835	1.0:0.0:0.0:0.0	.	294	Q9UKT7	FBXL3_HUMAN	V	294	ENSP00000347834:F294V	ENSP00000347834:F294V	F	-	1	0	FBXL3	76479688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	TTT		0.413	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3		
FBXL3	26224	broad.mit.edu	37	13	77589659	77589659	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77589659C>T	ENST00000355619.5	-	4	852	c.528G>A	c.(526-528)tcG>tcA	p.S176S	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	176					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S176S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CTATCTTAAGCGAAGACAGGG	0.358																																					p.S176S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	13						.						127.0	115.0	119.0					13																	77589659		2203	4300	6503	76487660	SO:0001819	synonymous_variant	26224	exon4			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.528G>A	13.37:g.77589659C>T			76487660	NM_012158	B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	CCDS9457.1																																																																																				0.358	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3		
MYCBP2	23077	broad.mit.edu	37	13	77657240	77657240	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77657240G>A	ENST00000544440.2	-	63	10866	c.10849C>T	c.(10849-10851)Cgc>Tgc	p.R3617C	MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3617C|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3655C					MYC binding protein 2, E3 ubiquitin protein ligase									p.H3617Y(1)|p.R3655C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGCAGCAAGCGGTGAAAGGTG	0.473																																					p.R3655C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10963T	13						.						211.0	188.0	196.0					13																	77657240		2203	4300	6503	76555241	SO:0001583	missense	23077	exon63			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10849C>T	13.37:g.77657240G>A	ENSP00000444596:p.Arg3617Cys		76555241	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.877842|2.877842	0.51801|0.51801	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.67171	.|-0.25;-0.25;-0.25	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.062059	.|0.64402	.|D	.|0.000002	T|T	0.47875|0.47875	0.1469|0.1469	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.43750|0.43750	-0.9372|-0.9372	5|10	.|0.51188	.|T	.|0.08	.|.	19.165|19.165	0.93553|0.93553	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3617	.|O75592	.|MYCB2_HUMAN	L|C	40|3617;3655;3617	.|ENSP00000349892:R3617C;ENSP00000384288:R3655C;ENSP00000444596:R3617C	.|ENSP00000349892:R3617C	P|R	-|-	2|1	0|0	MYCBP2|MYCBP2	76555241|76555241	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.825000|0.825000	0.46686|0.46686	7.984000|7.984000	0.88150|0.88150	2.504000|2.504000	0.84457|0.84457	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.473	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYCBP2	23077	broad.mit.edu	37	13	77718581	77718581	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77718581G>A	ENST00000544440.2	-	49	7205	c.7188C>T	c.(7186-7188)atC>atT	p.I2396I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Splice_Site_p.I2396I|MYCBP2_ENST00000407578.2_Splice_Site_p.I2434I					MYC binding protein 2, E3 ubiquitin protein ligase									p.I2396I(1)|p.I2434I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAAAATACCGATTTCAATGC	0.363																																					p.I2434I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7302T	13						.						127.0	117.0	120.0					13																	77718581		2203	4300	6503	76616582	SO:0001630	splice_region_variant	23077	exon49			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7189+1C>T	13.37:g.77718581G>A			76616582	NM_015057		Silent	SNP	ENST00000544440.2	37																																																																																					0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Silent
MYCBP2	23077	broad.mit.edu	37	13	77838066	77838066	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:77838066C>A	ENST00000544440.2	-	9	1332	c.1315G>T	c.(1315-1317)Gat>Tat	p.D439Y	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D439Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D477Y					MYC binding protein 2, E3 ubiquitin protein ligase									p.D439Y(2)|p.D477Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACTTACATCTCTTGAAGCA	0.313																																					p.D477Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1429T	13						.						60.0	64.0	62.0					13																	77838066		2201	4300	6501	76736067	SO:0001583	missense	23077	exon9			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1315G>T	13.37:g.77838066C>A	ENSP00000444596:p.Asp439Tyr		76736067	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	17.33	3.363111	0.61513	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.31247	1.51;1.5;1.51	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.42245	1.32	0.80722	D	1	P	0.48407	0.91	P	0.51487	0.671	T	0.20338	-1.0278	10	0.87932	D	0	.	19.6731	0.95918	0.0:1.0:0.0:0.0	.	439	O75592	MYCB2_HUMAN	Y	439;477;439	ENSP00000349892:D439Y;ENSP00000384288:D477Y;ENSP00000444596:D439Y	ENSP00000349892:D439Y	D	-	1	0	MYCBP2	76736067	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.113000	0.50376	2.817000	0.96982	0.563000	0.77884	GAT		0.313	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SCEL	8796	broad.mit.edu	37	13	78211282	78211282	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:78211282G>T	ENST00000349847.3	+	30	1875	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	SCEL_ENST00000377246.3_Missense_Mutation_p.E577D|SCEL_ENST00000535157.1_Missense_Mutation_p.E555D	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	597					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.E597D(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GATATCAGGAGAATATCTCTG	0.343																																					p.E555D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1665T	13						.						101.0	95.0	97.0					13																	78211282		2203	4298	6501	77109283	SO:0001583	missense	8796	exon28			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1791G>T	13.37:g.78211282G>T	ENSP00000302579:p.Glu597Asp		77109283	NM_001160706	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118055	0.56505	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.81330	-1.48;-1.48;-1.48	5.93	-3.13	0.05266	.	0.000000	0.56097	D	0.000021	T	0.77123	0.4084	M	0.70595	2.14	0.19575	N	0.999961	B;P;P	0.42375	0.394;0.778;0.453	P;P;P	0.50405	0.461;0.64;0.566	T	0.67601	-0.5629	10	0.16896	T	0.51	-12.9989	4.3679	0.11233	0.6213:0.1191:0.1397:0.12	.	555;577;597	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	D	555;577;597	ENSP00000437895:E555D;ENSP00000366454:E577D;ENSP00000302579:E597D	ENSP00000302579:E597D	E	+	3	2	SCEL	77109283	0.939000	0.31865	0.799000	0.32177	0.835000	0.47333	0.026000	0.13599	-0.452000	0.07087	-0.136000	0.14681	GAG		0.343	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	
EDNRB	1910	broad.mit.edu	37	13	78474009	78474009	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:78474009G>A	ENST00000334286.5	-	6	1415	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	EDNRB_ENST00000446573.1_Silent_p.F393F|EDNRB_ENST00000377211.4_Silent_p.F483F	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	393					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.F393F(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)	AGCAGTTTTTGAATCTTTTGC	0.348																																					p.F393F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	13						.						85.0	80.0	81.0					13																	78474009		2203	4299	6502	77372010	SO:0001819	synonymous_variant	1910	exon6			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1179C>T	13.37:g.78474009G>A			77372010	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																				0.348	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
EDNRB	1910	broad.mit.edu	37	13	78474696	78474696	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:78474696G>T	ENST00000334286.5	-	5	1281	c.1045C>A	c.(1045-1047)Ctt>Att	p.L349I	EDNRB_ENST00000446573.1_Missense_Mutation_p.L349I|EDNRB_ENST00000377211.4_Missense_Mutation_p.L439I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	349					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.L349I(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)	TGATTATAAAGAGTGAGCTTC	0.433																																					p.L349I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1045A	13						.						83.0	87.0	86.0					13																	78474696		2203	4300	6503	77372697	SO:0001583	missense	1910	exon5			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.1045C>A	13.37:g.78474696G>T	ENSP00000335311:p.Leu349Ile		77372697	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163435	0.21538	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71698	-0.59;-0.59;-0.59	5.62	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.217810	0.45867	N	0.000326	T	0.44393	0.1291	N	0.05078	-0.115	0.31732	N	0.63689	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.005;0.005;0.006	T	0.40942	-0.9536	10	0.16896	T	0.51	-6.993	9.0855	0.36579	0.0694:0.0:0.4439:0.4867	.	349;439;349	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	439;349;349	ENSP00000366416:L439I;ENSP00000403401:L349I;ENSP00000335311:L349I	ENSP00000335311:L349I	L	-	1	0	EDNRB	77372697	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.495000	0.35627	0.823000	0.34589	0.650000	0.86243	CTT		0.433	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
EDNRB	1910	broad.mit.edu	37	13	78475268	78475268	+	Missense_Mutation	SNP	A	A	C	rs543375862		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:78475268A>C	ENST00000334286.5	-	4	1112	c.876T>G	c.(874-876)ttT>ttG	p.F292L	EDNRB_ENST00000446573.1_Missense_Mutation_p.F292L|EDNRB_ENST00000377211.4_Missense_Mutation_p.F382L	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	292			F -> L (in WS4A). {ECO:0000269|PubMed:12189494}.		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.F292L(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)	TTAGTGTATAAAAAAATGCAG	0.338																																					p.F292L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T876G	13						.						81.0	85.0	84.0					13																	78475268		2203	4300	6503	77373269	SO:0001583	missense	1910	exon4			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.876T>G	13.37:g.78475268A>C	ENSP00000335311:p.Phe292Leu		77373269	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284229	0.59867	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.34667	1.35;1.35;1.35	5.55	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	L	0.57130	1.785	0.58432	D	0.99999	D;P;D	0.64830	0.994;0.567;0.99	D;B;D	0.68765	0.96;0.333;0.957	T	0.42749	-0.9433	10	0.87932	D	0	-7.5758	6.4859	0.22089	0.431:0.0:0.569:0.0	.	292;382;292	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	L	382;292;292	ENSP00000366416:F382L;ENSP00000403401:F292L;ENSP00000335311:F292L	ENSP00000335311:F292L	F	-	3	2	EDNRB	77373269	1.000000	0.71417	0.993000	0.49108	0.224000	0.24922	1.199000	0.32235	0.411000	0.25702	-0.411000	0.06167	TTT		0.338	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
RNF219	79596	broad.mit.edu	37	13	79190571	79190571	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:79190571G>T	ENST00000282003.6	-	6	1383	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	442	Ser-rich.						zinc ion binding (GO:0008270)	p.S442Y(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ATCTTCTGAAGAATCTTTATT	0.358																																					p.S442Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325A	13						.						40.0	43.0	42.0					13																	79190571		2203	4300	6503	78088572	SO:0001583	missense	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1325C>A	13.37:g.79190571G>T	ENSP00000282003:p.Ser442Tyr		78088572	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471277	0.26423	.	.	ENSG00000152193	ENST00000282003	T	0.14516	2.5	5.82	4.0	0.46444	.	0.421258	0.25400	N	0.030948	T	0.12135	0.0295	L	0.47716	1.5	0.31613	N	0.651298	B	0.30455	0.28	B	0.27500	0.08	T	0.08207	-1.0733	10	0.72032	D	0.01	-2.7114	7.3228	0.26539	0.15:0.1374:0.7127:0.0	.	442	Q5W0B1	RN219_HUMAN	Y	442	ENSP00000282003:S442Y	ENSP00000282003:S442Y	S	-	2	0	RNF219	78088572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.985000	0.56930	0.735000	0.32537	0.650000	0.86243	TCT		0.358	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
RNF219	79596	broad.mit.edu	37	13	79190857	79190857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:79190857C>A	ENST00000282003.6	-	6	1097	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	347							zinc ion binding (GO:0008270)	p.E347*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTACCTGTTCTTGATATAGG	0.418																																					p.E347X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1039T	13						.						159.0	146.0	151.0					13																	79190857		2203	4300	6503	78088858	SO:0001587	stop_gained	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1039G>T	13.37:g.79190857C>A	ENSP00000282003:p.Glu347*		78088858	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584387	0.46110	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.92	3.57	0.40892	.	0.409574	0.25916	N	0.027479	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1281	5.772	0.18259	0.0:0.3086:0.0:0.6914	.	.	.	.	X	347	.	ENSP00000282003:E347X	E	-	1	0	RNF219	78088858	0.593000	0.26840	0.299000	0.25016	0.575000	0.36095	1.522000	0.35921	1.076000	0.40961	-0.238000	0.12139	GAA		0.418	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
RNF219	79596	broad.mit.edu	37	13	79191020	79191020	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:79191020C>A	ENST00000282003.6	-	6	934	c.876G>T	c.(874-876)aaG>aaT	p.K292N	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	292							zinc ion binding (GO:0008270)	p.K292N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGCCTTGATTCTTTGACACCA	0.498																																					p.K292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G876T	13						.						99.0	95.0	96.0					13																	79191020		2203	4300	6503	78089021	SO:0001583	missense	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.876G>T	13.37:g.79191020C>A	ENSP00000282003:p.Lys292Asn		78089021	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076644	0.20227	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.02	1.02	0.19986	.	0.632498	0.16550	N	0.209521	T	0.26774	0.0655	L	0.43152	1.355	0.22412	N	0.999124	B	0.06786	0.001	B	0.06405	0.002	T	0.14144	-1.0483	9	0.32370	T	0.25	-38.5527	1.2928	0.02063	0.3245:0.3679:0.1605:0.1472	.	292	Q5W0B1	RN219_HUMAN	N	292	.	ENSP00000282003:K292N	K	-	3	2	RNF219	78089021	0.119000	0.22226	0.635000	0.29338	0.939000	0.58152	0.327000	0.19663	0.353000	0.24079	0.655000	0.94253	AAG		0.498	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
RBM26	64062	broad.mit.edu	37	13	79932564	79932564	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:79932564T>G	ENST00000438737.2	-	11	1974	c.1534A>C	c.(1534-1536)Aat>Cat	p.N512H	RBM26_ENST00000267229.7_Missense_Mutation_p.N512H|RBM26_ENST00000438724.1_Missense_Mutation_p.N512H			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	512					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N512H(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTATTAAAATTTGGTCTGCAA	0.303																																					p.N512H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1534C	13						.						50.0	53.0	52.0					13																	79932564		2199	4298	6497	78830565	SO:0001583	missense	64062	exon11			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1534A>C	13.37:g.79932564T>G	ENSP00000387531:p.Asn512His		78830565	NM_022118	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	T	20.8	4.044960	0.75846	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.48836	0.8;0.81	5.23	5.23	0.72850	.	0.097480	0.64402	D	0.000002	T	0.56514	0.1990	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.54302	-0.8314	9	.	.	.	-18.7044	15.4171	0.74977	0.0:0.0:0.0:1.0	.	512;512;512	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	H	512;513;512;512	ENSP00000267229:N512H;ENSP00000390222:N512H	.	N	-	1	0	RBM26	78830565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.439000	0.80444	2.088000	0.63022	0.383000	0.25322	AAT		0.303	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	
SPRY2	10253	broad.mit.edu	37	13	80911714	80911714	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:80911714G>A	ENST00000377102.1	-	2	1104	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	SPRY2_ENST00000377104.3_Silent_p.L43L|SPRY2_ENST00000540649.1_Silent_p.L43L			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	43					bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.L43L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		ATCTGATCCAGAGACAAGACA	0.632																																					p.L43L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C127T	13						.						113.0	111.0	112.0					13																	80911714		2203	4300	6503	79809715	SO:0001819	synonymous_variant	10253	exon2			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.127C>T	13.37:g.80911714G>A			79809715	NM_005842	B2R9J9|Q5T6Z7	Silent	SNP	ENST00000377102.1	37	CCDS9463.1																																																																																				0.632	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1		
SLITRK1	114798	broad.mit.edu	37	13	84454468	84454468	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:84454468T>G	ENST00000377084.2	-	1	2060	c.1175A>C	c.(1174-1176)aAa>aCa	p.K392T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	392					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K392T(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAGTGCGATTTTCGGATGCT	0.453																																					p.K392T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1175C	13						.						176.0	170.0	172.0					13																	84454468		2203	4300	6503	83352469	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1175A>C	13.37:g.84454468T>G	ENSP00000366288:p.Lys392Thr		83352469	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295786	0.23564	.	.	ENSG00000178235	ENST00000377084	T	0.59083	0.29	5.22	4.0	0.46444	.	0.099800	0.64402	D	0.000002	T	0.43389	0.1245	L	0.28504	0.86	0.48975	D	0.999735	B	0.21309	0.054	B	0.25140	0.058	T	0.18178	-1.0345	10	0.22706	T	0.39	-6.6787	10.2014	0.43087	0.0:0.0809:0.0:0.9191	.	392	Q96PX8	SLIK1_HUMAN	T	392	ENSP00000366288:K392T	ENSP00000366288:K392T	K	-	2	0	SLITRK1	83352469	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.963000	0.40452	0.787000	0.33731	0.454000	0.30748	AAA		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK1	114798	broad.mit.edu	37	13	84455190	84455190	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:84455190C>A	ENST00000377084.2	-	1	1338	c.453G>T	c.(451-453)caG>caT	p.Q151H		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	151					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.Q151H(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTCAAGTCCTGGAAGGCCC	0.483																																					p.Q151H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G453T	13						.						72.0	75.0	74.0					13																	84455190		2203	4300	6503	83353191	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.453G>T	13.37:g.84455190C>A	ENSP00000366288:p.Gln151His		83353191	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942833	0.18281	.	.	ENSG00000178235	ENST00000377084	T	0.58210	0.35	4.45	2.61	0.31194	.	0.055638	0.64402	D	0.000002	T	0.39517	0.1081	L	0.37800	1.135	0.43913	D	0.996554	B	0.06786	0.001	B	0.04013	0.001	T	0.18053	-1.0349	10	0.48119	T	0.1	-9.6737	8.7675	0.34711	0.0:0.8014:0.0:0.1986	.	151	Q96PX8	SLIK1_HUMAN	H	151	ENSP00000366288:Q151H	ENSP00000366288:Q151H	Q	-	3	2	SLITRK1	83353191	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.012000	0.40932	0.441000	0.26529	-0.367000	0.07326	CAG		0.483	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK6	84189	broad.mit.edu	37	13	86370073	86370073	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:86370073G>A	ENST00000400286.2	-	2	1169	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	191					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.R191C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTTCCACGAAGATCTAGA	0.388																																					p.R191C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C571T	13						.						115.0	105.0	108.0					13																	86370073		1858	4090	5948	85268074	SO:0001583	missense	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.571C>T	13.37:g.86370073G>A	ENSP00000383143:p.Arg191Cys		85268074	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477909	0.63849	.	.	ENSG00000184564	ENST00000400286	T	0.58358	0.34	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72972	-0.4129	10	0.87932	D	0	-18.1278	19.4432	0.94831	0.0:0.0:1.0:0.0	.	191	Q9H5Y7	SLIK6_HUMAN	C	191	ENSP00000383143:R191C	ENSP00000383143:R191C	R	-	1	0	SLITRK6	85268074	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGT		0.388	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
GPC5	2262	broad.mit.edu	37	13	92408585	92408585	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:92408585C>A	ENST00000377067.3	+	5	1563	c.1191C>A	c.(1189-1191)ttC>ttA	p.F397L	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	397					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F397L(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACAGGTCATTCTATGGAGGTC	0.363																																					p.F397L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1191A	13						.						126.0	124.0	124.0					13																	92408585		2203	4300	6503	91206586	SO:0001583	missense	2262	exon5			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1191C>A	13.37:g.92408585C>A	ENSP00000366267:p.Phe397Leu		91206586	NM_004466	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842640	0.71488	.	.	ENSG00000179399	ENST00000377067	T	0.60040	0.22	5.32	3.09	0.35607	.	0.100304	0.64402	D	0.000002	T	0.66327	0.2778	M	0.76002	2.32	0.41513	D	0.988351	P	0.44659	0.84	P	0.55303	0.773	T	0.66709	-0.5855	10	0.52906	T	0.07	-22.7159	7.1073	0.25370	0.0:0.6911:0.0:0.3089	.	397	P78333	GPC5_HUMAN	L	397	ENSP00000366267:F397L	ENSP00000366267:F397L	F	+	3	2	GPC5	91206586	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	0.498000	0.22530	1.111000	0.41721	0.543000	0.68304	TTC		0.363	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
DCT	1638	broad.mit.edu	37	13	95092217	95092217	+	Nonsense_Mutation	SNP	G	G	A	rs200349922		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:95092217G>A	ENST00000377028.5	-	8	1908	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	DCT_ENST00000446125.1_Nonsense_Mutation_p.R532*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	499					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R499*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TATCCTTTTCGAAGTCTTCTA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18005	0.0		0.0	False		,,,				2504	0.001				p.R499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1495T	13						.						109.0	109.0	109.0					13																	95092217		2203	4300	6503	93890218	SO:0001587	stop_gained	1638	exon8			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1495C>T	13.37:g.95092217G>A	ENSP00000366227:p.Arg499*		93890218	NM_001922	Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	39	7.663642	0.98419	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	4.88	1.87	0.25490	.	0.659026	0.15920	N	0.238177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5464	4.1965	0.10445	0.0871:0.1327:0.5517:0.2286	.	.	.	.	X	499;532	.	ENSP00000366227:R499X	R	-	1	2	DCT	93890218	0.755000	0.28372	0.273000	0.24645	0.997000	0.91878	1.658000	0.37376	0.540000	0.28808	0.563000	0.77884	CGA		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DCT	1638	broad.mit.edu	37	13	95112436	95112436	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:95112436G>T	ENST00000377028.5	-	6	1501	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	DCT_ENST00000446125.1_Missense_Mutation_p.S363Y|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	363					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.S363Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CATCACTTGAGAATCCAGAGT	0.418																																					p.S363Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1088A	13						.						91.0	85.0	87.0					13																	95112436		2203	4300	6503	93910437	SO:0001583	missense	1638	exon6			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1088C>A	13.37:g.95112436G>T	ENSP00000366227:p.Ser363Tyr		93910437	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919700	0.73098	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98849	-5.18;-5.18	5.52	5.52	0.82312	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.178386	0.52532	D	0.000075	D	0.98985	0.9654	M	0.81341	2.54	0.40894	D	0.98409	D;D	0.76494	0.999;0.998	D;D	0.75020	0.985;0.965	D	0.99834	1.1056	10	0.87932	D	0	-23.9967	13.6898	0.62539	0.0738:0.0:0.9262:0.0	.	363;363	Q09GT4;P40126	.;TYRP2_HUMAN	Y	363	ENSP00000366227:S363Y;ENSP00000392762:S363Y	ENSP00000366227:S363Y	S	-	2	0	DCT	93910437	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	5.308000	0.65768	2.620000	0.88729	0.655000	0.94253	TCT		0.418	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DCT	1638	broad.mit.edu	37	13	95118820	95118820	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:95118820C>T	ENST00000377028.5	-	3	1101	c.688G>A	c.(688-690)Gat>Aat	p.D230N	AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000446125.1_Missense_Mutation_p.D230N|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	230					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.D230N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACCTGGAGATCTCTTTCCAGA	0.368																																					p.D230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G688A	13						.						64.0	64.0	64.0					13																	95118820		2203	4300	6503	93916821	SO:0001583	missense	1638	exon3			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.688G>A	13.37:g.95118820C>T	ENSP00000366227:p.Asp230Asn		93916821	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469311	0.96274	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98807	-5.15;-5.15	5.7	5.7	0.88788	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.134566	0.64402	D	0.000002	D	0.99102	0.9691	M	0.83603	2.65	0.80722	D	1	D;P	0.56968	0.978;0.954	P;P	0.62491	0.903;0.745	D	0.99782	1.1028	10	0.87932	D	0	-7.2391	19.8418	0.96692	0.0:1.0:0.0:0.0	.	230;230	Q09GT4;P40126	.;TYRP2_HUMAN	N	230	ENSP00000366227:D230N;ENSP00000392762:D230N	ENSP00000366227:D230N	D	-	1	0	DCT	93916821	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAT		0.368	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
TGDS	23483	broad.mit.edu	37	13	95243150	95243150	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:95243150C>A	ENST00000261296.5	-	4	390	c.270G>T	c.(268-270)gaG>gaT	p.E90D	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	90					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)	p.E90D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATCTATTTTCTCTGTTTCAA	0.398																																					p.E90D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	13						.						148.0	146.0	147.0					13																	95243150		2203	4300	6503	94041151	SO:0001583	missense	23483	exon4			AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.270G>T	13.37:g.95243150C>A	ENSP00000261296:p.Glu90Asp		94041151	NM_014305	Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175562	0.57692	.	.	ENSG00000088451	ENST00000261296	D	0.88741	-2.42	5.48	4.63	0.57726	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.099925	0.64402	D	0.000002	D	0.93180	0.7828	M	0.73372	2.23	0.43156	D	0.994935	D	0.65815	0.995	D	0.67103	0.949	D	0.93094	0.6502	10	0.87932	D	0	.	13.4279	0.61037	0.0:0.8631:0.0:0.1369	.	90	O95455	TGDS_HUMAN	D	90	ENSP00000261296:E90D	ENSP00000261296:E90D	E	-	3	2	TGDS	94041151	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.430000	0.34914	0.700000	0.31782	-1.134000	0.01955	GAG		0.398	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305	
SOX21	11166	broad.mit.edu	37	13	95364052	95364052	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:95364052C>T	ENST00000376945.2	-	1	337	c.252G>A	c.(250-252)aaG>aaA	p.K84K	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	84					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K84K(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					TGAGCAGCGTCTTGGGCTTGC	0.687																																					p.K84K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	13						.						70.0	63.0	66.0					13																	95364052		2203	4300	6503	94162053	SO:0001819	synonymous_variant	11166	exon1			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.252G>A	13.37:g.95364052C>T			94162053	NM_007084	P35715|Q15504|Q5TBS1	Silent	SNP	ENST00000376945.2	37	CCDS9473.1																																																																																				0.687	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084	
CLDN10	9071	broad.mit.edu	37	13	96212691	96212691	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96212691C>A	ENST00000299339.2	+	3	467	c.438C>A	c.(436-438)ttC>ttA	p.F146L	CLDN10_ENST00000376873.3_Missense_Mutation_p.F144L|CLDN10_ENST00000376855.1_Missense_Mutation_p.F64L	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	146					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.F144L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CAACGGAATTCTTTGATCCTC	0.373																																					p.F146L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C438A	13						.						161.0	150.0	154.0					13																	96212691		2203	4300	6503	95010692	SO:0001583	missense	9071	exon3			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.438C>A	13.37:g.96212691C>A	ENSP00000299339:p.Phe146Leu		95010692	NM_006984	Q6IBF9|Q96N78	Missense_Mutation	SNP	ENST00000299339.2	37	CCDS9476.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299175	0.81025	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.88509	-2.39;-2.39;-2.39	5.75	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	H	0.97214	3.96	0.58432	D	0.999998	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.69824	0.932;0.932;0.966	D	0.97601	1.0123	10	0.87932	D	0	.	14.6379	0.68702	0.0:0.9306:0.0:0.0694	.	146;146;144	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	L	144;146;64	ENSP00000366069:F144L;ENSP00000299339:F146L;ENSP00000366051:F64L	ENSP00000299339:F146L	F	+	3	2	CLDN10	95010692	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.381000	0.44336	1.428000	0.47296	0.650000	0.86243	TTC		0.373	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1	NM_006984	
DZIP1	22873	broad.mit.edu	37	13	96239899	96239899	+	Silent	SNP	C	C	T	rs111764824		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96239899C>T	ENST00000376829.2	-	20	2963	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P	DZIP1_ENST00000361156.3_Silent_p.P685P|DZIP1_ENST00000347108.3_Silent_p.P704P|DZIP1_ENST00000361396.2_Silent_p.P685P	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	704					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P685P(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTTGTGGTGGCGGCACAGGAA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17885	0.001		0.0	False		,,,				2504	0.0				p.P685P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2055A	13						.						126.0	105.0	112.0					13																	96239899		2203	4300	6503	95037900	SO:0001819	synonymous_variant	22873	exon19			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2112G>A	13.37:g.96239899C>T			95037900	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.567	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96261761	96261761	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96261761G>T	ENST00000376829.2	-	13	2221	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	DZIP1_ENST00000361156.3_Intron|DZIP1_ENST00000347108.3_Missense_Mutation_p.P457H|DZIP1_ENST00000361396.2_Intron	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	457					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P457H(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CCAGGCTAAAGGATTTCCTGA	0.378																																					p.P457H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1370A	13						.						27.0	27.0	27.0					13																	96261761		2203	4299	6502	95059762	SO:0001583	missense	22873	exon13			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1370C>A	13.37:g.96261761G>T	ENSP00000366025:p.Pro457His		95059762	NM_198968	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	9.513	1.106189	0.20632	.	.	ENSG00000134874	ENST00000347108;ENST00000376829	T;T	0.08720	3.06;3.06	3.85	-0.0973	0.13633	.	1.235800	0.05343	N	0.530466	T	0.10337	0.0253	L	0.51422	1.61	0.45690	D	0.998604	D	0.58620	0.983	P	0.46975	0.533	T	0.44892	-0.9298	10	0.41790	T	0.15	1.1866	2.1386	0.03769	0.102:0.1707:0.3772:0.3502	.	457	Q86YF9	DZIP1_HUMAN	H	457	ENSP00000257312:P457H;ENSP00000366025:P457H	ENSP00000257312:P457H	P	-	2	0	DZIP1	95059762	0.679000	0.27596	0.456000	0.27044	0.291000	0.27294	1.186000	0.32078	-0.059000	0.13154	-1.132000	0.01976	CCT		0.378	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96264407	96264407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96264407G>A	ENST00000376829.2	-	11	2049	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	DZIP1_ENST00000361156.3_Nonsense_Mutation_p.R400*|DZIP1_ENST00000347108.3_Nonsense_Mutation_p.R400*|DZIP1_ENST00000361396.2_Nonsense_Mutation_p.R400*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	400					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.R400*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			attgAGGTTCGAAGTTTCTCT	0.383																																					p.R400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1198T	13						.						112.0	109.0	110.0					13																	96264407		2203	4300	6503	95062408	SO:0001587	stop_gained	22873	exon11			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1198C>T	13.37:g.96264407G>A	ENSP00000366025:p.Arg400*		95062408	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	45	12.067778	0.99632	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.88	5.88	0.94601	.	0.496875	0.21683	N	0.070691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2598	12.6734	0.56880	0.0:0.0:0.8353:0.1647	.	.	.	.	X	400	.	ENSP00000257312:R400X	R	-	1	2	DZIP1	95062408	0.998000	0.40836	1.000000	0.80357	0.882000	0.50991	2.949000	0.49074	2.778000	0.95560	0.655000	0.94253	CGA		0.383	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96282324	96282324	+	Silent	SNP	G	G	A	rs147346095	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96282324G>A	ENST00000376829.2	-	7	1580	c.729C>T	c.(727-729)atC>atT	p.I243I	DZIP1_ENST00000361156.3_Silent_p.I243I|DZIP1_ENST00000347108.3_Silent_p.I243I|DZIP1_ENST00000361396.2_Silent_p.I243I	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	243					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I243I(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCAATACGACGATCTCACTCC	0.468													G|||	4	0.000798722	0.0	0.0029	5008	,	,		18353	0.0		0.001	False		,,,				2504	0.001				p.I243I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729T	13						.	G	,	1,4405	2.1+/-5.4	0,1,2202	113.0	90.0	98.0		729,729	-8.5	0.4	13	dbSNP_134	98	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	DZIP1	NM_014934.3,NM_198968.2	,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,	243/849,243/868	96282324	7,12999	2203	4300	6503	95080325	SO:0001819	synonymous_variant	22873	exon7			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.729C>T	13.37:g.96282324G>A			95080325	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.468	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
UGGT2	55757	broad.mit.edu	37	13	96506694	96506694	+	Silent	SNP	G	G	A	rs549305023		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96506694G>A	ENST00000376747.3	-	35	4114	c.4044C>T	c.(4042-4044)ttC>ttT	p.F1348F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1348	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.F1348F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCCAGATCGAAATCTCGAA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		17432	0.001		0.0	False		,,,				2504	0.0				p.F1348F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4044T	13						.						72.0	68.0	70.0					13																	96506694		2203	4300	6503	95304695	SO:0001819	synonymous_variant	55757	exon35			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4044C>T	13.37:g.96506694G>A			95304695	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	CCDS9480.1																																																																																				0.373	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
UGGT2	55757	broad.mit.edu	37	13	96530017	96530017	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96530017G>T	ENST00000376747.3	-	28	3392	c.3322C>A	c.(3322-3324)Ctg>Atg	p.L1108M		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1108					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.L1108M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTGAACTGCAGACCCCGAGGA	0.378																																					p.L1108M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3322A	13						.						134.0	128.0	130.0					13																	96530017		2203	4300	6503	95328018	SO:0001583	missense	55757	exon28			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3322C>A	13.37:g.96530017G>T	ENSP00000365938:p.Leu1108Met		95328018	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290089	0.59976	.	.	ENSG00000102595	ENST00000376747	T	0.49139	0.79	5.14	3.4	0.38934	.	0.000000	0.64402	D	0.000002	T	0.69260	0.3091	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.72232	-0.4353	10	0.72032	D	0.01	-6.5715	8.3968	0.32561	0.3048:0.0:0.6952:0.0	.	1108;1108	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	M	1108	ENSP00000365938:L1108M	ENSP00000365938:L1108M	L	-	1	2	UGGT2	95328018	0.983000	0.35010	1.000000	0.80357	0.906000	0.53458	1.928000	0.40104	1.159000	0.42565	0.467000	0.42956	CTG		0.378	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
UGGT2	55757	broad.mit.edu	37	13	96642326	96642326	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96642326C>A	ENST00000376747.3	-	8	902	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	UGGT2_ENST00000397618.3_Splice_Site_p.E278*|UGGT2_ENST00000376714.3_Intron|UGGT2_ENST00000467305.1_5'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	278					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E278*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GAATATATTTCTCTGCATCAA	0.313																																					p.E278X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G832T	13						.						119.0	121.0	120.0					13																	96642326		2203	4296	6499	95440327	SO:0001630	splice_region_variant	55757	exon8			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.831-1G>T	13.37:g.96642326C>A			95440327	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049578	0.75846	.	.	ENSG00000102595	ENST00000376747;ENST00000397618	.	.	.	5.37	4.51	0.55191	.	0.179519	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-28.593	7.5591	0.27841	0.0:0.6287:0.2839:0.0874	.	.	.	.	X	278	.	ENSP00000365938:E278X	E	-	1	0	UGGT2	95440327	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.407000	0.44565	2.673000	0.90976	0.591000	0.81541	GAA		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	Nonsense_Mutation
UGGT2	55757	broad.mit.edu	37	13	96665596	96665596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:96665596C>A	ENST00000376747.3	-	5	695	c.625G>T	c.(625-627)Gag>Tag	p.E209*	UGGT2_ENST00000397618.3_Nonsense_Mutation_p.E209*|UGGT2_ENST00000376714.3_Nonsense_Mutation_p.E209*|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Nonsense_Mutation_p.E209*	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	209					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E209*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGAATTTCCTCATTTTGAGCT	0.343																																					p.E209X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G625T	13						.						104.0	97.0	99.0					13																	96665596		2203	4300	6503	95463597	SO:0001587	stop_gained	55757	exon5			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.625G>T	13.37:g.96665596C>A	ENSP00000365938:p.Glu209*		95463597	NM_020121	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Nonsense_Mutation	SNP	ENST00000376747.3	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	38	6.727597	0.97792	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	.	.	.	5.49	4.59	0.56863	.	0.306011	0.35870	N	0.002921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.3781	15.7529	0.78001	0.0:0.8635:0.1365:0.0	.	.	.	.	X	209	.	ENSP00000365902:E209X	E	-	1	0	UGGT2	95463597	0.569000	0.26643	0.095000	0.20976	0.981000	0.71138	3.474000	0.53129	2.576000	0.86940	0.591000	0.81541	GAG		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
MBNL2	10150	broad.mit.edu	37	13	97999258	97999258	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:97999258G>A	ENST00000376673.3	+	5	1522	c.741G>A	c.(739-741)gcG>gcA	p.A247A	MBNL2_ENST00000343600.4_Silent_p.A247A|MBNL2_ENST00000397601.1_Silent_p.A247A|MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000345429.6_Silent_p.A247A			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	247					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A247A(2)		endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TCAAAGCTGCGCAGCACCAAG	0.617																																					p.A247A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G741A	13						.						33.0	34.0	34.0					13																	97999258		2203	4300	6503	96797259	SO:0001819	synonymous_variant	10150	exon5			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.741G>A	13.37:g.97999258G>A			96797259	NM_207304	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	ENST00000376673.3	37																																																																																					0.617	MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778	
IPO5	3843	broad.mit.edu	37	13	98669038	98669038	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:98669038T>G	ENST00000490680.1	+	22	2614	c.2549T>G	c.(2548-2550)tTc>tGc	p.F850C	IPO5_ENST00000539640.1_Missense_Mutation_p.F725C|IPO5_ENST00000261574.5_Missense_Mutation_p.F868C			O00410	IPO5_HUMAN	importin 5	850					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.F868C(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CACTCAATATTCAGTAGCTAC	0.313																																					p.F868C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2603G	13						.						137.0	133.0	135.0					13																	98669038		2203	4300	6503	97467039	SO:0001583	missense	3843	exon25			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2549T>G	13.37:g.98669038T>G	ENSP00000418393:p.Phe850Cys		97467039	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.1|24.1	4.494312|4.494312	0.85069|0.85069	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.088147|.	0.85682|.	D|.	0.000000|.	T|T	0.78188|0.78188	0.4244|0.4244	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.80281|0.80281	-0.1448|-0.1448	10|5	0.87932|.	D|.	0|.	-7.3192|-7.3192	15.8357|15.8357	0.78796|0.78796	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	868|.	O00410-3|.	.|.	C|A	868;850;850;725|852	ENSP00000261574:F868C;ENSP00000350219:F850C;ENSP00000418393:F850C;ENSP00000445126:F725C|.	ENSP00000261574:F868C|.	F|S	+|+	2|1	0|0	IPO5|IPO5	97467039|97467039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.814000|7.814000	0.86154|0.86154	2.136000|2.136000	0.66102|0.66102	0.533000|0.533000	0.62120|0.62120	TTC|TCA		0.313	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
RNF113B	140432	broad.mit.edu	37	13	98828770	98828770	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:98828770C>T	ENST00000267291.6	-	1	749	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	241							zinc ion binding (GO:0008270)	p.E241K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCATGGTTTTCGTCCTCGCAG	0.527																																					p.E241K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G721A	13						.						109.0	101.0	104.0					13																	98828770		2203	4300	6503	97626771	SO:0001583	missense	140432	exon1			AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.721G>A	13.37:g.98828770C>T	ENSP00000267291:p.Glu241Lys		97626771	NM_178861	Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	7.669	0.686489	0.14973	.	.	ENSG00000139797	ENST00000267291	T	0.32753	1.44	1.57	1.57	0.23409	.	0.000000	0.85682	U	0.000000	T	0.23572	0.0570	L	0.49699	1.58	0.41607	D	0.988889	D	0.53885	0.963	B	0.43623	0.425	T	0.11867	-1.0570	10	0.10902	T	0.67	.	9.0801	0.36547	0.0:1.0:0.0:0.0	.	241	Q8IZP6	R113B_HUMAN	K	241	ENSP00000267291:E241K	ENSP00000267291:E241K	E	-	1	0	RNF113B	97626771	0.998000	0.40836	0.095000	0.20976	0.004000	0.04260	5.091000	0.64505	1.176000	0.42840	0.591000	0.81541	GAA		0.527	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861	
FARP1	10160	broad.mit.edu	37	13	99099066	99099066	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99099066C>T	ENST00000319562.6	+	26	3316	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FARP1_ENST00000595437.1_Silent_p.F1048F|FARP1_ENST00000376586.2_Silent_p.F1048F	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	1017	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1017F(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGTACACGTTCGAAAGGTAGA	0.557																																					p.F1017F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3051T	13						.						146.0	112.0	123.0					13																	99099066		2203	4300	6503	97897067	SO:0001819	synonymous_variant	10160	exon26			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.3051C>T	13.37:g.99099066C>T			97897067	NM_005766	Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	CCDS9487.1																																																																																				0.557	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
SLC15A1	6564	broad.mit.edu	37	13	99338532	99338532	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99338532G>A	ENST00000376503.5	-	22	1902	c.1847C>T	c.(1846-1848)tCg>tTg	p.S616L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	616					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.S616L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGAAGCACCGACTTCATGTT	0.582																																					p.S616L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1847T	13						.						115.0	79.0	91.0					13																	99338532		2203	4300	6503	98136533	SO:0001583	missense	6564	exon22			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1847C>T	13.37:g.99338532G>A	ENSP00000365686:p.Ser616Leu		98136533	NM_005073	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195300	0.94960	.	.	ENSG00000088386	ENST00000376503	T	0.60548	0.18	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.128146	0.56097	D	0.000037	D	0.84270	0.5435	H	0.97415	4	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.89347	0.3658	10	0.87932	D	0	-28.1678	19.07	0.93130	0.0:0.0:1.0:0.0	.	616	P46059	S15A1_HUMAN	L	616	ENSP00000365686:S616L	ENSP00000365686:S616L	S	-	2	0	SLC15A1	98136533	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.982000	0.93471	2.793000	0.96121	0.655000	0.94253	TCG		0.582	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
SLC15A1	6564	broad.mit.edu	37	13	99340754	99340754	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99340754G>A	ENST00000376503.5	-	19	1599	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	515					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.A515V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTATGTGCTGGCATTGTAGCT	0.358																																					p.A515V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1544T	13						.						129.0	129.0	129.0					13																	99340754		2203	4300	6503	98138755	SO:0001583	missense	6564	exon19			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1544C>T	13.37:g.99340754G>A	ENSP00000365686:p.Ala515Val		98138755	NM_005073	Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980805	0.02197	.	.	ENSG00000088386	ENST00000376503	T	0.01963	4.53	5.91	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);	0.264293	0.45126	N	0.000395	T	0.01905	0.0060	L	0.40543	1.245	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.37174	-0.9717	10	0.02654	T	1	-33.2304	6.6643	0.23032	0.1548:0.1475:0.6977:0.0	.	515	P46059	S15A1_HUMAN	V	515	ENSP00000365686:A515V	ENSP00000365686:A515V	A	-	2	0	SLC15A1	98138755	0.594000	0.26849	0.993000	0.49108	0.008000	0.06430	0.181000	0.16880	0.830000	0.34757	-0.126000	0.14955	GCC		0.358	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
SLC15A1	6564	broad.mit.edu	37	13	99378638	99378638	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99378638G>T	ENST00000376503.5	-	3	142	c.87C>A	c.(85-87)tcC>tcA	p.S29S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	29					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.S29S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTCCATAGTAGGAAAATCTTT	0.448																																					p.S29S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C87A	13						.						86.0	80.0	82.0					13																	99378638		2203	4300	6503	98176639	SO:0001819	synonymous_variant	6564	exon3			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.87C>A	13.37:g.99378638G>T			98176639	NM_005073	Q5VW82	Silent	SNP	ENST00000376503.5	37	CCDS9489.1																																																																																				0.448	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
DOCK9	23348	broad.mit.edu	37	13	99515753	99515753	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99515753G>T	ENST00000376460.1	-	31	3416	c.3336C>A	c.(3334-3336)ttC>ttA	p.F1112L	DOCK9_ENST00000339416.2_Missense_Mutation_p.F1113L|DOCK9_ENST00000442173.1_Missense_Mutation_p.F1112L|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.F1124L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1113					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1124L(1)|p.F1113L(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCCCACCAAGAAGTGGTTTC	0.493																																					p.F1112L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3336A	13						.						44.0	42.0	43.0					13																	99515753		1845	4080	5925	98313754	SO:0001583	missense	23348	exon31			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3336C>A	13.37:g.99515753G>T	ENSP00000365643:p.Phe1112Leu		98313754	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398692	0.83120	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493;ENST00000442173	D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23	5.72	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	M	0.91354	3.2	0.58432	D	0.999999	B;B;D;B;D;D	0.64830	0.029;0.026;0.994;0.058;0.992;0.989	B;B;D;B;D;D	0.72338	0.162;0.027;0.977;0.103;0.924;0.917	D	0.98763	1.0725	10	0.87932	D	0	.	12.2872	0.54798	0.1367:0.0:0.8633:0.0	.	1113;1112;1113;1112;1112;1113	A6H8Z6;E9PFM9;A8MWZ5;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;.;DOCK9_HUMAN	L	1112;1113;1113;1113;1112;43;1113;1124;1112	ENSP00000365643:F1112L;ENSP00000341086:F1113L;ENSP00000401958:F1124L;ENSP00000406883:F1112L	ENSP00000341086:F1113L	F	-	3	2	DOCK9	98313754	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.065000	0.49994	0.767000	0.33267	-0.140000	0.14226	TTC		0.493	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
DOCK9	23348	broad.mit.edu	37	13	99535321	99535321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99535321C>T	ENST00000376460.1	-	23	2614	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	DOCK9_ENST00000339416.2_Missense_Mutation_p.G846E|DOCK9_ENST00000442173.1_Missense_Mutation_p.G845E|DOCK9_ENST00000448493.2_Missense_Mutation_p.G857E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	846					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G846E(1)|p.G857E(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAGTTCGTTTCCTAAGGCTTG	0.403																																					p.G845E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2534A	13						.						119.0	107.0	111.0					13																	99535321		1854	4103	5957	98333322	SO:0001583	missense	23348	exon23			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2534G>A	13.37:g.99535321C>T	ENSP00000365643:p.Gly845Glu		98333322	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529688	0.27387	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.18657	2.55;2.63;2.21;2.2	5.49	5.49	0.81192	.	0.052065	0.85682	D	0.000000	T	0.10937	0.0267	N	0.03071	-0.42	0.58432	D	0.999996	B;B;B;B;B	0.11235	0.0;0.004;0.0;0.001;0.004	B;B;B;B;B	0.12837	0.003;0.005;0.001;0.003;0.008	T	0.24404	-1.0161	10	0.22706	T	0.39	.	17.9237	0.88976	0.0:1.0:0.0:0.0	.	846;845;845;845;846	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	E	845;846;846;846;845;846;857;845	ENSP00000365643:G845E;ENSP00000341086:G846E;ENSP00000401958:G857E;ENSP00000406883:G845E	ENSP00000341086:G846E	G	-	2	0	DOCK9	98333322	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	4.396000	0.59684	2.750000	0.94351	0.563000	0.77884	GGA		0.403	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
GPR18	2841	broad.mit.edu	37	13	99907895	99907895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:99907895G>A	ENST00000340807.3	-	3	788	c.232C>T	c.(232-234)Cga>Tga	p.R78*	UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Nonsense_Mutation_p.R78*|GPR18_ENST00000397470.2_Nonsense_Mutation_p.R78*|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	78					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R78*(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAAAACATTCGAAAGGGTAAA	0.388																																					p.R78X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C232T	13						.						72.0	73.0	72.0					13																	99907895		2203	4300	6503	98705896	SO:0001587	stop_gained	2841	exon3			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.232C>T	13.37:g.99907895G>A	ENSP00000343428:p.Arg78*		98705896	NM_005292	Q6GTM3|Q96HI6|Q9H2L2	Nonsense_Mutation	SNP	ENST00000340807.3	37	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	37	6.439455	0.97568	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	.	.	.	6.07	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5775	16.5987	0.84803	0.0:0.0:0.8687:0.1313	.	.	.	.	X	78	.	.	R	-	1	2	GPR18	98705896	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	4.969000	0.63735	1.535000	0.49220	0.655000	0.94253	CGA		0.388	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1		
TM9SF2	9375	broad.mit.edu	37	13	100211649	100211649	+	Silent	SNP	G	G	A	rs7330734	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:100211649G>A	ENST00000376387.4	+	16	1975	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	595					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.T595T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CATTCCTTACGAGTGGCTTTA	0.353																																					p.T595T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1785A	13						.						147.0	140.0	142.0					13																	100211649		2203	4300	6503	99009650	SO:0001819	synonymous_variant	9375	exon16			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1785G>A	13.37:g.100211649G>A			99009650	NM_004800	A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	CCDS9493.1																																																																																				0.353	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		
PCCA	5095	broad.mit.edu	37	13	100809577	100809577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:100809577G>T	ENST00000376285.1	+	6	489	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	PCCA_ENST00000485946.1_3'UTR|PCCA_ENST00000376286.4_Nonsense_Mutation_p.E125*|PCCA_ENST00000376279.3_Nonsense_Mutation_p.E151*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	151	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.E151*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AGAAAACAAAGAATTTGCCAG	0.338																																					p.E151X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G451T	13						.						99.0	96.0	97.0					13																	100809577		2203	4299	6502	99607578	SO:0001587	stop_gained	5095	exon6			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.451G>T	13.37:g.100809577G>T	ENSP00000365462:p.Glu151*		99607578	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Nonsense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	37	6.622426	0.97714	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	.	.	.	5.0	5.0	0.66597	.	0.056971	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.267	0.90055	0.0:0.0:1.0:0.0	.	.	.	.	X	125;151;151	.	ENSP00000365456:E151X	E	+	1	0	PCCA	99607578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.452000	0.90346	2.477000	0.83638	0.561000	0.74099	GAA		0.338	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
PCCA	5095	broad.mit.edu	37	13	100962160	100962160	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:100962160G>A	ENST00000376285.1	+	16	1465	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	PCCA_ENST00000376286.4_Missense_Mutation_p.R450Q|PCCA_ENST00000376279.3_Missense_Mutation_p.R476Q	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	476	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.R476Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TATGTTATTCGAGGTAAAAAC	0.403																																					p.R476Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	13						.						137.0	133.0	134.0					13																	100962160		2203	4300	6503	99760161	SO:0001583	missense	5095	exon16			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1427G>A	13.37:g.100962160G>A	ENSP00000365462:p.Arg476Gln		99760161	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.274669|5.274669	0.95459|0.95459	.|.	.|.	ENSG00000175198|ENSG00000175198	ENST00000443601|ENST00000376286;ENST00000376279;ENST00000376285;ENST00000376254	.|T;T;T	.|0.81247	.|-1.47;-1.47;-1.47	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84037|0.84037	0.5384|0.5384	L|L	0.33339|0.33339	1.005|1.005	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.997;0.998	.|P;P;P	.|0.62184	.|0.846;0.837;0.899	D|D	0.84354|0.84354	0.0534|0.0534	5|10	.|0.46703	.|T	.|0.11	.|.	19.078|19.078	0.93171|0.93171	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|476;450;476	.|C9JPQ8;P05165-2;P05165	.|.;.;PCCA_HUMAN	K|Q	68|450;476;476;67	.|ENSP00000365463:R450Q;ENSP00000365456:R476Q;ENSP00000365462:R476Q	.|ENSP00000365430:R67Q	E|R	+|+	1|2	0|0	PCCA|PCCA	99760161|99760161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	8.433000|8.433000	0.90291|0.90291	2.491000|2.491000	0.84063|0.84063	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.403	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
PCCA	5095	broad.mit.edu	37	13	101179949	101179949	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:101179949T>G	ENST00000376285.1	+	23	2099	c.2061T>G	c.(2059-2061)atT>atG	p.I687M	PCCA_ENST00000376286.4_Missense_Mutation_p.I661M|PCCA_ENST00000376279.3_Missense_Mutation_p.I640M	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	687	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.I687M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GTCAAGAAATTTGTGTGATTG	0.423																																					p.I640M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1920G	13						.						108.0	109.0	109.0					13																	101179949		2203	4300	6503	99977950	SO:0001583	missense	5095	exon22			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.2061T>G	13.37:g.101179949T>G	ENSP00000365462:p.Ile687Met		99977950	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	CCDS9496.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.80|12.80	2.046292|2.046292	0.36085|0.36085	.|.	.|.	ENSG00000175198|ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000376277;ENST00000428969|ENST00000458283	D;D;D;D|.	0.84146|.	-1.81;-1.81;-1.81;-1.81|.	5.55|5.55	-4.92|-4.92	0.03075|0.03075	Single hybrid motif (1);Biotin/lipoyl attachment (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.46927|0.46927	0.1418|0.1418	L|L	0.46885|0.46885	1.475|1.475	0.49687|0.49687	D|D	0.999814|0.999814	B;B;B|.	0.15473|.	0.006;0.01;0.013|.	B;B;B|.	0.28385|.	0.024;0.087;0.089|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.62326|.	D|.	0.03|.	.|.	3.7083|3.7083	0.08410|0.08410	0.2155:0.4423:0.1103:0.2319|0.2155:0.4423:0.1103:0.2319	.|.	640;661;687|.	C9JPQ8;P05165-2;P05165|.	.;.;PCCA_HUMAN|.	M|V	661;640;687;79;70|93	ENSP00000365463:I661M;ENSP00000365456:I640M;ENSP00000365462:I687M;ENSP00000399413:I70M|.	ENSP00000365454:I79M|.	I|L	+|+	3|1	3|2	PCCA|PCCA	99977950|99977950	0.751000|0.751000	0.28327|0.28327	0.946000|0.946000	0.38457|0.38457	0.812000|0.812000	0.45895|0.45895	-0.295000|-0.295000	0.08298|0.08298	-0.931000|-0.931000	0.03746|0.03746	-0.429000|-0.429000	0.05907|0.05907	ATT|TTG		0.423	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
CHAMP1	283489	broad.mit.edu	37	13	115090672	115090672	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr13:115090672C>A	ENST00000361283.1	+	3	1664	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	452	Mediates interaction with MAD2L2.|Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S452Y(1)									TGGAAGCTTTCTCCTGATCAG	0.512																																					p.S452Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1355A	13						.						130.0	151.0	144.0					13																	115090672		2203	4300	6503	114108774	SO:0001583	missense	283489	exon3			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1355C>A	13.37:g.115090672C>A	ENSP00000354730:p.Ser452Tyr		114108774	NM_001164145	B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888203	0.52014	.	.	ENSG00000198824	ENST00000361283	T	0.01647	4.71	5.8	5.8	0.92144	.	0.107601	0.41938	D	0.000781	T	0.03651	0.0104	L	0.50333	1.59	0.37409	D	0.913146	D	0.55605	0.972	P	0.50440	0.641	T	0.51293	-0.8724	9	.	.	.	-21.0137	9.0015	0.36085	0.0:0.8766:0.0:0.1234	.	452	Q96JM3	ZN828_HUMAN	Y	452	ENSP00000354730:S452Y	.	S	+	2	0	ZNF828	114108774	0.253000	0.23982	1.000000	0.80357	0.993000	0.82548	0.911000	0.28584	2.741000	0.93983	0.650000	0.86243	TCT		0.512	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
PCGF5	84333	broad.mit.edu	37	10	93021137	93021137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93021137delA	ENST00000336126.5	+	7	761	c.529delA	c.(529-531)aaafs	p.K178fs	PCGF5_ENST00000543648.1_Frame_Shift_Del_p.K178fs	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.K178fs*3(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGGAACTATTAAAAAATTTCT	0.264																																					p.K177fs	Colon(178;732 2696 46441 50370)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.529delA	10						.						24.0	28.0	27.0					10																	93021137		2180	4255	6435	93011117	SO:0001589	frameshift_variant	84333	exon7			AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.529delA	10.37:g.93021137delA	ENSP00000337500:p.Lys178fs		93011117	NM_032373	B7Z892|D3DR33|Q6PK47|Q86TD0	Frame_Shift_Del	DEL	ENST00000336126.5	37	CCDS7413.1																																																																																				0.264	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373	
PYROXD2	84795	broad.mit.edu	37	10	100144783	100144783	+	Silent	SNP	G	G	A	rs369487361		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:100144783G>A	ENST00000370575.4	-	15	1644	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	532							oxidoreductase activity (GO:0016491)	p.F532F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CGGGGCGGGCGAAGTAGAGCT	0.612																																					p.F532F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1596T	10						.	G		0,4406		0,0,2203	82.0	77.0	79.0		1596	-6.9	0.8	10		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PYROXD2	NM_032709.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		532/582	100144783	1,13005	2203	4300	6503	100134773	SO:0001819	synonymous_variant	84795	exon15			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1596C>T	10.37:g.100144783G>A			100134773	NM_032709	D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	CCDS7474.1																																																																																				0.612	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709	
HPSE2	60495	broad.mit.edu	37	10	100904147	100904147	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:100904147C>T	ENST00000370552.3	-	3	517	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Missense_Mutation_p.R153Q|HPSE2_ENST00000370546.1_Missense_Mutation_p.R153Q	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	153					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.R153Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AACATCACTTCGAACAATGTC	0.403																																					p.R153Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G458A	10						.						84.0	86.0	85.0					10																	100904147		2203	4300	6503	100894137	SO:0001583	missense	60495	exon3			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.458G>A	10.37:g.100904147C>T	ENSP00000359583:p.Arg153Gln		100894137	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830119	0.91036	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.48522	0.81;1.49;1.37	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	L	0.51422	1.61	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.75484	0.986;0.986;0.968	T	0.61481	-0.7054	10	0.44086	T	0.13	-3.2947	20.064	0.97700	0.0:1.0:0.0:0.0	.	153;153;153	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	Q	153	ENSP00000359583:R153Q;ENSP00000359580:R153Q;ENSP00000359577:R153Q	ENSP00000359577:R153Q	R	-	2	0	HPSE2	100894137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.345000	0.79337	2.746000	0.94184	0.650000	0.86243	CGA		0.403	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
HPSE2	60495	broad.mit.edu	37	10	100995386	100995386	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:100995386C>A	ENST00000370552.3	-	1	233	c.174G>T	c.(172-174)aaG>aaT	p.K58N	HPSE2_ENST00000404542.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370549.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370546.1_Missense_Mutation_p.K58N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	58					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.K58N(6)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GAATCAGGGTCTTTTCCTTCA	0.522																																					p.K58N												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.G174T	10						.						180.0	178.0	179.0					10																	100995386		2203	4300	6503	100985376	SO:0001583	missense	60495	exon1			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.174G>T	10.37:g.100995386C>A	ENSP00000359583:p.Lys58Asn		100985376	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869121	0.32977	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00477	7.14;7.14;7.14;7.14	5.8	5.8	0.92144	.	0.052749	0.64402	D	0.000001	T	0.00328	0.0010	N	0.14661	0.345	0.30882	N	0.731298	P;P;P;P	0.40731	0.557;0.728;0.59;0.455	B;B;B;B	0.38803	0.221;0.282;0.282;0.146	T	0.70619	-0.4822	10	0.35671	T	0.21	-12.1322	15.1633	0.72801	0.0:0.9311:0.0:0.0689	.	58;58;58;58	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	58	ENSP00000359583:K58N;ENSP00000359580:K58N;ENSP00000359577:K58N;ENSP00000384384:K58N	ENSP00000359577:K58N	K	-	3	2	HPSE2	100985376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	2.758000	0.94735	0.561000	0.74099	AAG		0.522	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
CNNM1	26507	broad.mit.edu	37	10	101120624	101120624	+	Missense_Mutation	SNP	C	C	T	rs370860509		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101120624C>T	ENST00000356713.4	+	3	2039	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	CNNM1_ENST00000446890.1_Missense_Mutation_p.R513W|CNNM1_ENST00000370534.4_Missense_Mutation_p.R219W|CNNM1_ENST00000370528.3_Missense_Mutation_p.R513W	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	584					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R219W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGTCCCGCAACGGGAGCGGAA	0.522																																					p.R584W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1750T	10						.						138.0	143.0	141.0					10																	101120624		2203	4300	6503	101110614	SO:0001583	missense	26507	exon3			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1750C>T	10.37:g.101120624C>T	ENSP00000349147:p.Arg584Trp		101110614	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486145	0.84854	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.84370	-1.84;-1.79;-1.78;-0.81	5.74	4.82	0.62117	.	0.058743	0.64402	D	0.000001	D	0.92541	0.7631	M	0.83953	2.67	0.51482	D	0.999921	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;P;D	0.74674	0.984;0.972;0.786;0.937	D	0.93566	0.6899	10	0.72032	D	0.01	-12.3558	16.0677	0.80897	0.142:0.858:0.0:0.0	.	219;584;219;584	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	W	584;513;513;219;37	ENSP00000349147:R584W;ENSP00000406492:R513W;ENSP00000359559:R513W;ENSP00000359565:R219W	ENSP00000349147:R584W	R	+	1	2	CNNM1	101110614	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.944000	0.56629	1.376000	0.46267	0.655000	0.94253	CGG		0.522	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
CNNM1	26507	broad.mit.edu	37	10	101122145	101122145	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101122145C>A	ENST00000356713.4	+	4	2309	c.2020C>A	c.(2020-2022)Ctt>Att	p.L674I	CNNM1_ENST00000446890.1_Missense_Mutation_p.L603I|CNNM1_ENST00000370534.4_Missense_Mutation_p.L309I|CNNM1_ENST00000370528.3_Missense_Mutation_p.L603I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	674					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.L309I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CTTTGTGCTGCTTCTACAGGT	0.542																																					p.L674I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2020A	10						.						51.0	49.0	50.0					10																	101122145		2203	4300	6503	101112135	SO:0001583	missense	26507	exon4			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2020C>A	10.37:g.101122145C>A	ENSP00000349147:p.Leu674Ile		101112135	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	C	2.294	-0.361750	0.05103	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.76186	-1.0;-0.96;-0.94;-0.06	5.1	4.17	0.49024	.	0.149283	0.46758	D	0.000263	T	0.29158	0.0725	N	0.00079	-2.23	0.80722	D	1	B;B;B;B	0.12013	0.002;0.005;0.0;0.003	B;B;B;B	0.15484	0.006;0.013;0.001;0.007	T	0.49322	-0.8952	10	0.02654	T	1	-17.454	9.711	0.40245	0.268:0.6069:0.125:0.0	.	309;674;309;674	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	I	674;603;603;309;127	ENSP00000349147:L674I;ENSP00000406492:L603I;ENSP00000359559:L603I;ENSP00000359565:L309I	ENSP00000349147:L674I	L	+	1	0	CNNM1	101112135	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.292000	0.43549	1.227000	0.43598	0.655000	0.94253	CTT		0.542	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
GOT1	2805	broad.mit.edu	37	10	101163356	101163356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101163356C>A	ENST00000370508.5	-	7	856	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E256*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	277					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.E277*(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CTCTCAGGTTCTTTTCCAACC	0.557																																					p.E277X	Melanoma(173;770 3544 21601)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G829T	10						.						96.0	91.0	93.0					10																	101163356		2203	4300	6503	101153346	SO:0001587	stop_gained	2805	exon7			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.829G>T	10.37:g.101163356C>A	ENSP00000359539:p.Glu277*		101153346	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	37	6.300439	0.97453	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	5.03	5.03	0.67393	.	0.198027	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.3713	18.7783	0.91920	0.0:1.0:0.0:0.0	.	.	.	.	X	277;230;256	.	ENSP00000359539:E277X	E	-	1	0	GOT1	101153346	1.000000	0.71417	0.993000	0.49108	0.335000	0.28730	6.042000	0.70996	2.498000	0.84270	0.558000	0.71614	GAA		0.557	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
COX15	1355	broad.mit.edu	37	10	101487299	101487299	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101487299C>T	ENST00000016171.5	-	3	344	c.294G>A	c.(292-294)tcG>tcA	p.S98S	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Silent_p.S98S			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	98					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.S98S(1)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AATCTACCATCGAGAGGCCAG	0.413																																					p.S98S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G294A	10						.						149.0	150.0	150.0					10																	101487299		2203	4300	6503	101477289	SO:0001819	synonymous_variant	1355	exon3			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.294G>A	10.37:g.101487299C>T			101477289	NM_004376	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Silent	SNP	ENST00000016171.5	37	CCDS7482.1																																																																																				0.413	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
COX15	1355	broad.mit.edu	37	10	101489326	101489326	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101489326G>T	ENST00000016171.5	-	2	306	c.256C>A	c.(256-258)Ctt>Att	p.L86I	CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Missense_Mutation_p.L86I			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	86					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.L86I(2)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ACTCCACCAAGAATAACTGCT	0.488																																					p.L86I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C256A	10						.						105.0	111.0	109.0					10																	101489326		2203	4300	6503	101479316	SO:0001583	missense	1355	exon2			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.256C>A	10.37:g.101489326G>T	ENSP00000016171:p.Leu86Ile		101479316	NM_004376	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775113	0.70107	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83673	-1.75;-1.75	4.45	4.45	0.53987	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	N	0.25485	0.75	0.80722	D	1	P;P	0.45827	0.867;0.737	P;P	0.57548	0.54;0.823	D	0.84180	0.0439	10	0.42905	T	0.14	-15.0835	17.2268	0.86972	0.0:0.0:1.0:0.0	.	86;86	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	I	86	ENSP00000359514:L86I;ENSP00000016171:L86I	ENSP00000016171:L86I	L	-	1	0	COX15	101479316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.082000	0.64450	2.484000	0.83849	0.555000	0.69702	CTT		0.488	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
COX15	1355	broad.mit.edu	37	10	101489475	101489475	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101489475C>T	ENST00000016171.5	-	2	157	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Missense_Mutation_p.R36H			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	36					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.R36H(1)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CCTCAAAGGGCGCCTGATGCA	0.507																																					p.R36H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G107A	10						.						71.0	69.0	70.0					10																	101489475		2203	4300	6503	101479465	SO:0001583	missense	1355	exon2			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.107G>A	10.37:g.101489475C>T	ENSP00000016171:p.Arg36His		101479465	NM_004376	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747068	0.30955	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	.	.	.	4.97	-2.28	0.06826	Peptidase cysteine/serine, trypsin-like (1);	0.667620	0.15307	N	0.269263	T	0.20495	0.0493	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.09952	-1.0651	9	0.33940	T	0.23	0.0572	4.2642	0.10756	0.4822:0.2633:0.0:0.2546	.	36;36	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	H	36	.	ENSP00000016171:R36H	R	-	2	0	COX15	101479465	0.003000	0.15002	0.033000	0.17914	0.939000	0.58152	-0.607000	0.05648	-0.202000	0.10268	0.555000	0.69702	CGC		0.507	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
ABCC2	1244	broad.mit.edu	37	10	101544527	101544527	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101544527C>A	ENST00000370449.4	+	2	309	c.196C>A	c.(196-198)Ctt>Att	p.L66I	ABCC2_ENST00000370434.1_Missense_Mutation_p.L66I	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	66					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L66I(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CAAACTCTATCTTGCTAAGCA	0.473																																					p.L66I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196A	10						.						93.0	92.0	93.0					10																	101544527		2203	4300	6503	101534517	SO:0001583	missense	1244	exon2			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.196C>A	10.37:g.101544527C>A	ENSP00000359478:p.Leu66Ile		101534517	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	3.893	-0.023623	0.07634	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.37411	1.2;1.2	5.7	2.71	0.32032	.	0.688503	0.14517	N	0.314722	T	0.25457	0.0619	L	0.37800	1.135	0.31839	N	0.62368	B	0.13594	0.008	B	0.14023	0.01	T	0.32428	-0.9907	10	0.09338	T	0.73	-7.7124	10.7849	0.46398	0.264:0.6088:0.1273:0.0	.	66	Q92887	MRP2_HUMAN	I	66	ENSP00000359478:L66I;ENSP00000359463:L66I	ENSP00000359463:L66I	L	+	1	0	ABCC2	101534517	0.996000	0.38824	0.978000	0.43139	0.002000	0.02628	0.371000	0.20450	0.279000	0.22186	-0.304000	0.09214	CTT		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
DNMBP	23268	broad.mit.edu	37	10	101667793	101667793	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101667793G>A	ENST00000324109.4	-	6	2604	c.2513C>T	c.(2512-2514)tCg>tTg	p.S838L	DNMBP_ENST00000342239.3_Missense_Mutation_p.S838L|DNMBP_ENST00000543621.1_Missense_Mutation_p.S84L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	838	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S838L(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TAATTGCTTCGAGACCTTAAT	0.398																																					p.S838L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2513T	10						.						106.0	102.0	103.0					10																	101667793		2203	4300	6503	101657783	SO:0001583	missense	23268	exon6			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2513C>T	10.37:g.101667793G>A	ENSP00000315659:p.Ser838Leu		101657783	NM_015221	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977580	0.92982	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000370423;ENST00000422692	T;T;T;T	0.48522	0.81;2.09;2.09;1.36	5.99	5.99	0.97316	Dbl homology (DH) domain (5);	0.000000	0.40469	N	0.001088	T	0.72407	0.3456	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.91635	0.999;0.862;0.999	T	0.73566	-0.3942	10	0.87932	D	0	-13.8605	20.4777	0.99188	0.0:0.0:1.0:0.0	.	838;84;838	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	838;838;84;84;126;126	ENSP00000344914:S838L;ENSP00000315659:S838L;ENSP00000443657:S84L;ENSP00000409476:S126L	ENSP00000315659:S838L	S	-	2	0	DNMBP	101657783	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.860000	0.86993	2.840000	0.97914	0.655000	0.94253	TCG		0.398	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
CPN1	1369	broad.mit.edu	37	10	101802226	101802226	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101802226C>T	ENST00000370418.3	-	9	1586	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	445					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K445K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCATTTCTTTCTTTCTGGCTT	0.547																																					p.K445K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1335A	10						.						97.0	86.0	89.0					10																	101802226		2203	4300	6503	101792216	SO:0001819	synonymous_variant	1369	exon9			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1335G>A	10.37:g.101802226C>T			101792216	NM_001308	B1AP59	Silent	SNP	ENST00000370418.3	37	CCDS7486.1																																																																																				0.547	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308	
CPN1	1369	broad.mit.edu	37	10	101814136	101814136	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101814136G>T	ENST00000370418.3	-	7	1330	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	360					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S360Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCCACTGACAGAAATGACAGC	0.428																																					p.S360Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079A	10						.						217.0	187.0	197.0					10																	101814136		2203	4300	6503	101804126	SO:0001583	missense	1369	exon7			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1079C>A	10.37:g.101814136G>T	ENSP00000359446:p.Ser360Tyr		101804126	NM_001308	B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190035	0.78789	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.47869	0.83;0.83	4.23	4.23	0.50019	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.124895	0.56097	D	0.000032	T	0.65512	0.2698	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.66732	-0.5849	10	0.41790	T	0.15	-14.7348	16.3866	0.83507	0.0:0.0:1.0:0.0	.	360	P15169	CBPN_HUMAN	Y	360;157	ENSP00000359446:S360Y;ENSP00000410895:S157Y	ENSP00000359446:S360Y	S	-	2	0	CPN1	101804126	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.232000	0.95325	2.189000	0.69895	0.462000	0.41574	TCT		0.428	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308	
CPN1	1369	broad.mit.edu	37	10	101835694	101835694	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101835694C>T	ENST00000370418.3	-	2	645	c.394G>A	c.(394-396)Gac>Aac	p.D132N		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	132	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D132N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TCGTAGCCGTCGGGGTTCATG	0.577																																					p.D132N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	10						.						100.0	87.0	91.0					10																	101835694		2203	4300	6503	101825684	SO:0001583	missense	1369	exon2			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.394G>A	10.37:g.101835694C>T	ENSP00000359446:p.Asp132Asn		101825684	NM_001308	B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469642	0.96274	.	.	ENSG00000120054	ENST00000370418	D	0.83673	-1.75	5.74	5.74	0.90152	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96165	0.9118	10	0.87932	D	0	-19.2659	19.9353	0.97137	0.0:1.0:0.0:0.0	.	132	P15169	CBPN_HUMAN	N	132	ENSP00000359446:D132N	ENSP00000359446:D132N	D	-	1	0	CPN1	101825684	1.000000	0.71417	0.926000	0.36857	0.665000	0.39181	7.815000	0.86186	2.724000	0.93272	0.655000	0.94253	GAC		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308	
CHUK	1147	broad.mit.edu	37	10	101964323	101964323	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101964323A>C	ENST00000370397.7	-	13	1533	c.1447T>G	c.(1447-1449)Ttt>Gtt	p.F483V		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	483					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.F483V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTTTTGTGAAAAAACTCCAAT	0.363																																					p.F483V	Ovarian(159;52 1904 10536 35305 37148)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1447G	10						.						151.0	136.0	141.0					10																	101964323		2203	4300	6503	101954313	SO:0001583	missense	1147	exon13			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1447T>G	10.37:g.101964323A>C	ENSP00000359424:p.Phe483Val		101954313	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848575	0.91277	.	.	ENSG00000213341	ENST00000370397	D	0.84070	-1.8	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.90380	0.6989	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.90096	0.4181	10	0.41790	T	0.15	-7.7482	14.1191	0.65175	1.0:0.0:0.0:0.0	.	483	O15111	IKKA_HUMAN	V	483	ENSP00000359424:F483V	ENSP00000359424:F483V	F	-	1	0	CHUK	101954313	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.224000	0.72417	0.528000	0.53228	TTT		0.363	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
CHUK	1147	broad.mit.edu	37	10	101966987	101966987	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:101966987C>A	ENST00000370397.7	-	11	1317	c.1231G>T	c.(1231-1233)Gta>Tta	p.V411L		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	411					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.V411L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGGACTTACCAATATAATTT	0.328																																					p.V411L	Ovarian(159;52 1904 10536 35305 37148)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1231T	10						.						62.0	62.0	62.0					10																	101966987		2203	4297	6500	101956977	SO:0001630	splice_region_variant	1147	exon11			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1231+1G>T	10.37:g.101966987C>A			101956977	NM_001278	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	0.455	-0.891990	0.02491	.	.	ENSG00000213341	ENST00000370397	T	0.55234	0.53	5.55	4.65	0.58169	.	0.000000	0.85682	U	0.000000	T	0.57330	0.2046	N	0.26042	0.785	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.55010	-0.8207	9	.	.	.	-11.9075	12.2262	0.54461	0.0:0.9173:0.0:0.0827	.	411	O15111	IKKA_HUMAN	L	411	ENSP00000359424:V411L	.	V	-	1	0	CHUK	101956977	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	7.814000	0.86154	1.348000	0.45733	-0.266000	0.10368	GTA		0.328	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Missense_Mutation
BLOC1S2	282991	broad.mit.edu	37	10	102035223	102035223	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102035223C>T	ENST00000370372.2	-	5	477	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	BLOC1S2_ENST00000441611.1_Missense_Mutation_p.R99Q	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	142					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)	p.R142Q(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		AGTTTCTCATCGCTTCTCCAG	0.368																																					p.R142Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	10						.						144.0	146.0	145.0					10																	102035223		2203	4300	6503	102025213	SO:0001583	missense	282991	exon5			AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.425G>A	10.37:g.102035223C>T	ENSP00000359398:p.Arg142Gln		102025213	NM_173809	B4DQV2|Q5W040|Q8WUI8	Missense_Mutation	SNP	ENST00000370372.2	37	CCDS7490.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250259	0.80024	.	.	ENSG00000196072	ENST00000361832;ENST00000358848;ENST00000441611;ENST00000370372	.	.	.	5.53	5.53	0.82687	.	0.062989	0.64402	D	0.000003	T	0.76463	0.3991	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.78790	-0.2066	9	0.72032	D	0.01	.	16.6117	0.84885	0.0:1.0:0.0:0.0	.	142	Q6QNY1	BL1S2_HUMAN	Q	74;142;99;74	.	ENSP00000351716:R142Q	R	-	2	0	BLOC1S2	102025213	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.668000	0.74457	2.602000	0.87976	0.555000	0.69702	CGA		0.368	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809	
PKD2L1	9033	broad.mit.edu	37	10	102055945	102055945	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102055945G>A	ENST00000318222.3	-	7	1672	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PKD2L1_ENST00000338519.3_Silent_p.F355F|PKD2L1_ENST00000353274.3_Silent_p.F430F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	430					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.F430F(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAAGGCGAGGAACTCAAAGT	0.527																																					p.F430F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1290T	10						.						170.0	132.0	145.0					10																	102055945		2203	4300	6503	102045935	SO:0001819	synonymous_variant	9033	exon7			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1290C>T	10.37:g.102055945G>A			102045935	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				0.527	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
SEC31B	25956	broad.mit.edu	37	10	102262142	102262142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102262142C>A	ENST00000370345.3	-	11	1376	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	SEC31B_ENST00000451524.1_Nonsense_Mutation_p.E427*|SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	427					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.E427*(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AATTCAGATTCTGTGGTGACT	0.532																																					p.E427X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1279T	10						.						82.0	78.0	79.0					10																	102262142		2203	4300	6503	102252132	SO:0001587	stop_gained	25956	exon11			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1279G>T	10.37:g.102262142C>A	ENSP00000359370:p.Glu427*		102252132	NM_015490	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Nonsense_Mutation	SNP	ENST00000370345.3	37	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	c	37	6.134900	0.97315	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.0334	18.3476	0.90327	0.0:1.0:0.0:0.0	.	.	.	.	X	427	.	ENSP00000359370:E427X	E	-	1	0	SEC31B	102252132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.538000	0.82048	2.582000	0.87167	0.556000	0.70494	GAA		0.532	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490	
HIF1AN	55662	broad.mit.edu	37	10	102296271	102296271	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102296271G>A	ENST00000299163.6	+	2	381	c.281G>A	c.(280-282)aGt>aAt	p.S94N	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	94	Interaction with VHL.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.S94N(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TCTGTGTACAGTGCCAGCACC	0.453																																					p.S94N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	10						.						103.0	104.0	104.0					10																	102296271		2203	4300	6503	102286261	SO:0001583	missense	55662	exon2			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.281G>A	10.37:g.102296271G>A	ENSP00000299163:p.Ser94Asn		102286261	NM_017902	D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686500	0.29962	.	.	ENSG00000166135	ENST00000299163;ENST00000442724	T	0.69806	-0.43	5.7	5.7	0.88788	.	0.175795	0.64402	D	0.000008	T	0.51244	0.1663	N	0.12182	0.205	0.43292	D	0.995272	B	0.14438	0.01	B	0.12837	0.008	T	0.43750	-0.9372	10	0.19147	T	0.46	-10.097	19.8212	0.96595	0.0:0.0:1.0:0.0	.	94	Q9NWT6	HIF1N_HUMAN	N	94;127	ENSP00000299163:S94N	ENSP00000299163:S94N	S	+	2	0	HIF1AN	102286261	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	2.156000	0.42310	2.694000	0.91930	0.650000	0.86243	AGT		0.453	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902	
PAX2	5076	broad.mit.edu	37	10	102566243	102566243	+	Missense_Mutation	SNP	C	C	T	rs142737641		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102566243C>T	ENST00000428433.1	+	7	1292	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	PAX2_ENST00000556085.1_Missense_Mutation_p.R224W|PAX2_ENST00000361791.3_Missense_Mutation_p.R225W|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000370296.2_Missense_Mutation_p.R248W|PAX2_ENST00000355243.3_Missense_Mutation_p.R225W	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	248					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.R225W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGACAGTTTGCGGAAGCACTT	0.577																																					p.R248W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C742T	10						.	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	211.0	191.0	198.0		673,742,673,673,742	5.1	1.0	10	dbSNP_134	198	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PAX2	NM_000278.3,NM_003987.3,NM_003988.3,NM_003989.3,NM_003990.3	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	225/395,248/418,225/397,225/410,248/433	102566243	1,13005	2203	4300	6503	102556233	SO:0001583	missense	5076	exon7				CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.742C>T	10.37:g.102566243C>T	ENSP00000396259:p.Arg248Trp		102556233	NM_003987	Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608507	0.87258	2.27E-4	0.0	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000554172	D;D;D;D;D;D	0.98666	-4.9;-5.06;-4.79;-4.79;-4.78;-5.03	5.06	5.06	0.68205	Homeodomain-related (1);	0.054868	0.64402	D	0.000001	D	0.99336	0.9767	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.992;0.997;0.987;0.998;0.999;0.999	D	0.98858	1.0761	10	0.87932	D	0	.	17.4294	0.87535	0.0:1.0:0.0:0.0	.	224;248;225;221;248;225;221	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	W	140;248;248;225;225;224;221	ENSP00000359319:R248W;ENSP00000396259:R248W;ENSP00000355069:R225W;ENSP00000347385:R225W;ENSP00000452527:R224W;ENSP00000452489:R221W	ENSP00000347385:R225W	R	+	1	2	PAX2	102556233	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.679000	0.54634	2.326000	0.78906	0.462000	0.41574	CGG		0.577	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			
FAM178A	55719	broad.mit.edu	37	10	102698458	102698458	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102698458G>T	ENST00000238961.4	+	11	3161	c.2619G>T	c.(2617-2619)gaG>gaT	p.E873D	FAM178A_ENST00000370269.3_Missense_Mutation_p.E873D	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	873						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E873D(1)									TTCCCCTGGAGAATCTTCAGC	0.363																																					p.E873D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2619T	10						.						177.0	173.0	174.0					10																	102698458		2203	4300	6503	102688448	SO:0001583	missense	55719	exon11			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2619G>T	10.37:g.102698458G>T	ENSP00000238961:p.Glu873Asp		102688448	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443152	0.43326	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.31769	1.49;1.48	6.08	6.08	0.98989	.	0.318751	0.29987	N	0.010684	T	0.13970	0.0338	N	0.03608	-0.345	0.27901	N	0.938973	B;B	0.32467	0.372;0.372	B;B	0.33392	0.163;0.163	T	0.13737	-1.0498	10	0.30078	T	0.28	-16.9362	9.0063	0.36113	0.0769:0.1498:0.7733:0.0	.	873;873	Q8IX21;B1AL17	F178A_HUMAN;.	D	873	ENSP00000238961:E873D;ENSP00000359292:E873D	ENSP00000238961:E873D	E	+	3	2	FAM178A	102688448	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.301000	0.19174	2.894000	0.99253	0.591000	0.81541	GAG		0.363	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		
C10orf2	56652	broad.mit.edu	37	10	102748293	102748293	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102748293G>A	ENST00000311916.2	+	1	511	c.326G>A	c.(325-327)gGc>gAc	p.G109D	MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000477279.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370241.3_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.G109D|MRPL43_ENST00000370236.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	109					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.G109D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AAGACCACAGGCCACTTTCTC	0.587																																					p.G109D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326A	10						.						114.0	123.0	120.0					10																	102748293		2203	4300	6503	102738283	SO:0001583	missense	56652	exon1			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.326G>A	10.37:g.102748293G>A	ENSP00000309595:p.Gly109Asp		102738283	NM_001163812	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525806	0.85600	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.97924	-4.35;-4.61	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99509	1.0955	10	0.62326	D	0.03	-26.3494	18.0	0.89196	0.0:0.0:1.0:0.0	.	109;109	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	D	109	ENSP00000309595:G109D;ENSP00000359248:G109D	ENSP00000309595:G109D	G	+	2	0	C10orf2	102738283	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.578000	0.98200	2.593000	0.87608	0.455000	0.32223	GGC		0.587	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	
LBX1	10660	broad.mit.edu	37	10	102987347	102987347	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:102987347G>A	ENST00000370193.2	-	2	1504	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	176					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R176W(2)		large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TTAGCGCGCCGATTCTGGAAC	0.627																																					p.R176W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C526T	10						.						74.0	75.0	75.0					10																	102987347		2203	4300	6503	102977337	SO:0001583	missense	10660	exon2			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.526C>T	10.37:g.102987347G>A	ENSP00000359212:p.Arg176Trp		102977337	NM_006562	B9EGA2|Q05BB2	Missense_Mutation	SNP	ENST00000370193.2	37	CCDS31270.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071438	0.93950	.	.	ENSG00000138136	ENST00000370193	D	0.97831	-4.56	5.61	5.61	0.85477	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98350	1.0543	10	0.87932	D	0	.	19.2382	0.93871	0.0:0.0:1.0:0.0	.	176	P52954	LBX1_HUMAN	W	176	ENSP00000359212:R176W	ENSP00000359212:R176W	R	-	1	2	LBX1	102977337	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.777000	0.85628	2.646000	0.89796	0.561000	0.74099	CGG		0.627	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562	
BTRC	8945	broad.mit.edu	37	10	103285772	103285772	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:103285772C>T	ENST00000370187.3	+	6	677	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	BTRC_ENST00000393441.4_Missense_Mutation_p.R146W|BTRC_ENST00000408038.2_Missense_Mutation_p.R151W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R187W(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACTGAAAGCTCGGGGATTGGA	0.438																																					p.R151W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C451T	10						.						87.0	70.0	76.0					10																	103285772		2203	4300	6503	103275762	SO:0001583	missense	8945	exon5			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.559C>T	10.37:g.103285772C>T	ENSP00000359206:p.Arg187Trp		103275762	NM_003939	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704605	0.88924	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000002	T	0.41994	0.1183	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.54544	0.596;0.755;0.713	T	0.34950	-0.9808	10	0.87932	D	0	-11.1644	19.4679	0.94950	0.0:1.0:0.0:0.0	.	161;151;187	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	187;146;151;169	ENSP00000359206:R187W;ENSP00000377088:R146W;ENSP00000385339:R151W;ENSP00000359202:R169W	ENSP00000359202:R169W	R	+	1	2	BTRC	103275762	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.611000	0.88343	0.650000	0.86243	CGG		0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
BTRC	8945	broad.mit.edu	37	10	103310477	103310477	+	Nonsense_Mutation	SNP	C	C	T	rs375317445		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:103310477C>T	ENST00000370187.3	+	14	1796	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	BTRC_ENST00000393441.4_Nonsense_Mutation_p.R519*|BTRC_ENST00000408038.2_Nonsense_Mutation_p.R524*|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	560					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R560*(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGAGTTTTTCGACTACAGTT	0.408																																					p.R524X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1570T	10						.	C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	158.0	162.0		1570,1678	6.1	1.0	10		162	0,8600		0,0,4300	no	stop-gained,stop-gained	BTRC	NM_003939.3,NM_033637.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	524/570,560/606	103310477	1,13005	2203	4300	6503	103300467	SO:0001587	stop_gained	8945	exon13			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1678C>T	10.37:g.103310477C>T	ENSP00000359206:p.Arg560*		103300467	NM_003939	B5MD49|Q5W141|Q5W142|Q9Y213	Nonsense_Mutation	SNP	ENST00000370187.3	37	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	37	6.386582	0.97524	2.27E-4	0.0	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-6.067	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	560;519;524	.	ENSP00000359206:R560X	R	+	1	2	BTRC	103300467	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.024000	0.49674	2.871000	0.98454	0.655000	0.94253	CGA		0.408	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
KCNIP2	30819	broad.mit.edu	37	10	103587117	103587117	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:103587117A>G	ENST00000356640.2	-	10	1081	c.806T>C	c.(805-807)gTc>gCc	p.V269A	KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000343195.4_Missense_Mutation_p.V219A|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.V183A|KCNIP2_ENST00000353068.3_Missense_Mutation_p.V226A|KCNIP2_ENST00000461105.1_Missense_Mutation_p.V284A|KCNIP2_ENST00000358038.3_Missense_Mutation_p.V251A|KCNIP2_ENST00000348850.5_Missense_Mutation_p.V224A	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	269	Interaction with KCND2. {ECO:0000250}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)	p.V284A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GGGCTAGATGACATTGTCAAA	0.532																																					p.V251A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T752C	10						.						163.0	146.0	152.0					10																	103587117		2203	4300	6503	103577107	SO:0001583	missense	30819	exon9				CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.806T>C	10.37:g.103587117A>G	ENSP00000349055:p.Val269Ala		103577107	NM_173192	A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618351	0.46736	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195	T;T;T;T;T;T;T;T	0.73363	-0.49;-0.73;-0.7;-0.48;-0.57;-0.53;-0.74;-0.46	4.8	4.8	0.61643	.	0.135528	0.47852	D	0.000210	T	0.79621	0.4477	L	0.43923	1.385	0.58432	D	0.999995	B;P;P;P;P;P;P;B;B;B;B	0.49185	0.051;0.661;0.53;0.661;0.885;0.661;0.92;0.291;0.061;0.168;0.004	B;P;B;P;P;P;P;B;B;B;B	0.61201	0.251;0.52;0.321;0.52;0.885;0.52;0.788;0.176;0.227;0.072;0.088	T	0.78780	-0.2070	10	0.39692	T	0.17	.	14.8014	0.69919	1.0:0.0:0.0:0.0	.	213;215;218;219;251;226;284;269;200;224;176	B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	A	224;251;200;251;269;183;176;226;284;219	ENSP00000239118:V224A;ENSP00000350733:V251A;ENSP00000349055:V269A;ENSP00000359063:V183A;ENSP00000411679:V176A;ENSP00000341624:V226A;ENSP00000420040:V284A;ENSP00000344169:V219A	ENSP00000344169:V219A	V	-	2	0	KCNIP2	103577107	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.152000	0.67230	0.459000	0.35465	GTC		0.532	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1		
HPS6	79803	broad.mit.edu	37	10	103827491	103827491	+	Missense_Mutation	SNP	C	C	A	rs202188533		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:103827491C>A	ENST00000299238.5	+	1	2345	c.2260C>A	c.(2260-2262)Cta>Ata	p.L754I		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	754					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)	p.L754I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGGCCCAGTTCTAAGCCCATA	0.612									Hermansky-Pudlak syndrome																												p.L754I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2260A	10						.						34.0	36.0	35.0					10																	103827491		2199	4297	6496	103817481	SO:0001583	missense	79803	exon1	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.2260C>A	10.37:g.103827491C>A	ENSP00000299238:p.Leu754Ile		103817481	NM_024747	Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	C	4.473	0.087629	0.08583	.	.	ENSG00000166189	ENST00000299238	T	0.78924	-1.22	4.12	3.19	0.36642	.	0.643920	0.11938	N	0.514998	T	0.55689	0.1936	N	0.08118	0	0.22982	N	0.998473	B	0.29646	0.253	B	0.27500	0.08	T	0.44221	-0.9342	10	0.27785	T	0.31	-1.2486	7.3204	0.26523	0.0:0.7309:0.1748:0.0943	.	754	Q86YV9	HPS6_HUMAN	I	754	ENSP00000299238:L754I	ENSP00000299238:L754I	L	+	1	2	HPS6	103817481	0.990000	0.36364	1.000000	0.80357	0.103000	0.19146	0.450000	0.21762	1.284000	0.44531	0.655000	0.94253	CTA		0.612	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747	
LDB1	8861	broad.mit.edu	37	10	103869710	103869710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:103869710C>A	ENST00000425280.1	-	7	958	c.616G>T	c.(616-618)Gag>Tag	p.E206*	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Nonsense_Mutation_p.E170*	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	206					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.E170*(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GGGATGAGCTCTCGGTGCTGC	0.597																																					p.E206X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G616T	10						.						123.0	104.0	111.0					10																	103869710		2203	4300	6503	103859700	SO:0001587	stop_gained	8861	exon7			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.616G>T	10.37:g.103869710C>A	ENSP00000392466:p.Glu206*		103859700	NM_001113407	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Nonsense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	39	7.770769	0.98480	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9528	0.92646	0.0:1.0:0.0:0.0	.	.	.	.	X	170;206	.	ENSP00000354616:E170X	E	-	1	0	LDB1	103859700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.482000	0.83794	0.462000	0.41574	GAG		0.597	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407	
GBF1	8729	broad.mit.edu	37	10	104119978	104119978	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104119978C>T	ENST00000369983.3	+	12	1475	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	405					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R405R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTGCATCCGCGAGCTCTTCC	0.542																																					p.R406R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1218T	10						.						333.0	326.0	328.0					10																	104119978		2203	4300	6503	104109968	SO:0001819	synonymous_variant	8729	exon12			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1215C>T	10.37:g.104119978C>T			104109968	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	CCDS7533.1																																																																																				0.542	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
GBF1	8729	broad.mit.edu	37	10	104136708	104136708	+	Missense_Mutation	SNP	G	G	T	rs371570408		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104136708G>T	ENST00000369983.3	+	33	4562	c.4302G>T	c.(4300-4302)gaG>gaT	p.E1434D		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1434					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1434D(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGTCCCAGGAGAAACGTGGCA	0.517																																					p.E1435D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4305T	10						.						89.0	85.0	86.0					10																	104136708		2203	4300	6503	104126698	SO:0001583	missense	8729	exon33			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4302G>T	10.37:g.104136708G>T	ENSP00000359000:p.Glu1434Asp		104126698	NM_001199378	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699212	0.15106	.	.	ENSG00000107862	ENST00000369983	T	0.10099	2.91	5.22	2.08	0.27032	.	0.142233	0.64402	N	0.000005	T	0.09468	0.0233	L	0.54323	1.7	0.39072	D	0.960745	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.15867	-1.0422	10	0.15952	T	0.53	-10.3837	8.3053	0.32038	0.155:0.0:0.7103:0.1347	.	1434;1434;1434	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	D	1434	ENSP00000359000:E1434D	ENSP00000359000:E1434D	E	+	3	2	GBF1	104126698	0.978000	0.34361	1.000000	0.80357	0.983000	0.72400	0.071000	0.14594	0.734000	0.32515	0.561000	0.74099	GAG		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
NFKB2	4791	broad.mit.edu	37	10	104156492	104156492	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104156492G>A	ENST00000369966.3	+	5	405	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	NFKB2_ENST00000189444.6_Missense_Mutation_p.R52Q|NFKB2_ENST00000428099.1_Missense_Mutation_p.R52Q	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	52	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R52Q(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AGAGGCTTCCGATTTCGATAT	0.577			T	IGH@	B-NHL																																p.R52Q			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155A	10						.						75.0	74.0	74.0					10																	104156492		2017	4163	6180	104146482	SO:0001583	missense	4791	exon5			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.155G>A	10.37:g.104156492G>A	ENSP00000358983:p.Arg52Gln		104146482	NM_001077493	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262561	0.95399	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.72505	-0.66;-0.66;-0.66	5.15	5.15	0.70609	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.142200	0.44902	D	0.000411	D	0.87229	0.6125	M	0.91406	3.205	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.967;0.991	D	0.90205	0.4260	10	0.87932	D	0	.	16.3809	0.83461	0.0:0.0:1.0:0.0	.	52;52;52	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	Q	52	ENSP00000410256:R52Q;ENSP00000358983:R52Q;ENSP00000189444:R52Q	ENSP00000189444:R52Q	R	+	2	0	NFKB2	104146482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.833000	0.86765	2.369000	0.80426	0.561000	0.74099	CGA		0.577	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
ARL3	403	broad.mit.edu	37	10	104436657	104436657	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104436657C>A	ENST00000260746.5	-	6	674	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	181					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)	p.K181N(1)		large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		GATTTTATTTCTTCTTTGCAT	0.428																																					p.K181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	10						.						157.0	163.0	161.0					10																	104436657		2203	4300	6503	104426647	SO:0001583	missense	403	exon6			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.543G>T	10.37:g.104436657C>A	ENSP00000260746:p.Lys181Asn		104426647	NM_004311	B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397166	0.42512	.	.	ENSG00000138175	ENST00000260746	T	0.72394	-0.65	5.46	4.56	0.56223	.	0.140671	0.64402	D	0.000004	T	0.69070	0.3070	M	0.73598	2.24	0.58432	D	0.99999	P	0.38250	0.624	B	0.34590	0.186	T	0.70498	-0.4855	10	0.41790	T	0.15	-20.9172	14.2274	0.65868	0.0:0.9282:0.0:0.0718	.	181	P36405	ARL3_HUMAN	N	181	ENSP00000260746:K181N	ENSP00000260746:K181N	K	-	3	2	ARL3	104426647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.409000	0.44583	1.300000	0.44818	0.561000	0.74099	AAG		0.428	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311	
CNNM2	54805	broad.mit.edu	37	10	104679492	104679492	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104679492C>T	ENST00000369878.4	+	1	1443	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	CNNM2_ENST00000433628.2_Missense_Mutation_p.R419W|CNNM2_ENST00000369875.3_Missense_Mutation_p.R419W	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	419	DUF21.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.R419W(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGAGATGCTCCGGGTCACCGA	0.607																																					p.R419W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1255T	10						.						81.0	81.0	81.0					10																	104679492		2203	4300	6503	104669482	SO:0001583	missense	54805	exon1			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1255C>T	10.37:g.104679492C>T	ENSP00000358894:p.Arg419Trp		104669482	NM_199077	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596869	0.46318	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.88896	-2.44;-2.44;-2.44	4.44	4.44	0.53790	Domain of unknown function DUF21 (1);	0.000000	0.85682	D	0.000000	D	0.93874	0.8040	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.972;0.983;0.988	D	0.94332	0.7563	10	0.87932	D	0	.	11.2054	0.48767	0.3221:0.6779:0.0:0.0	.	419;419;419	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	W	419	ENSP00000392875:R419W;ENSP00000358891:R419W;ENSP00000358894:R419W	ENSP00000286899:R419W	R	+	1	2	CNNM2	104669482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.813000	0.55636	1.990000	0.58119	0.561000	0.74099	CGG		0.607	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
CNNM2	54805	broad.mit.edu	37	10	104687123	104687123	+	Intron	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104687123A>C	ENST00000369878.4	+	1	1809				CNNM2_ENST00000433628.2_Intron|CNNM2_ENST00000369875.3_Missense_Mutation_p.K548T	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2						magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.K548T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AAGAAACCCAAATCATACCAA	0.338																																					p.K548T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1643C	10						.						162.0	155.0	157.0					10																	104687123		2203	4300	6503	104677113	SO:0001627	intron_variant	54805	exon2			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1621+7265A>C	10.37:g.104687123A>C			104677113	NM_199077	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Intron	SNP	ENST00000369878.4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	A	10.62	1.400379	0.25291	.	.	ENSG00000148842	ENST00000369875;ENST00000541201	T	0.75260	-0.92	2.7	2.7	0.31948	.	.	.	.	.	T	0.61274	0.2334	L	0.39898	1.24	0.21861	N	0.999506	B	0.19935	0.04	B	0.12837	0.008	T	0.45293	-0.9271	9	0.22109	T	0.4	.	7.2794	0.26302	1.0:0.0:0.0:0.0	.	548	F5H1I3	.	T	548	ENSP00000358891:K548T	ENSP00000358891:K548T	K	+	2	0	CNNM2	104677113	0.004000	0.15560	0.032000	0.17829	0.877000	0.50540	1.588000	0.36633	1.500000	0.48636	0.459000	0.35465	AAA		0.338	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
CNNM2	54805	broad.mit.edu	37	10	104809536	104809536	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:104809536G>A	ENST00000369878.4	+	2	1882	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CNNM2_ENST00000433628.2_Missense_Mutation_p.G565E	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	565	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)	p.G565E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGTTCTGGGAATCGTCACC	0.388																																					p.G565E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1694A	10						.						158.0	155.0	156.0					10																	104809536		1880	4141	6021	104799526	SO:0001583	missense	54805	exon2			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1694G>A	10.37:g.104809536G>A	ENSP00000358894:p.Gly565Glu		104799526	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117431	0.94385	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	D;D	0.99594	-6.25;-6.25	5.61	5.61	0.85477	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96607	0.9449	10	0.87932	D	0	.	19.6562	0.95842	0.0:0.0:1.0:0.0	.	565;565	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	E	565	ENSP00000392875:G565E;ENSP00000358894:G565E	ENSP00000286899:G565E	G	+	2	0	CNNM2	104799526	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.363000	0.97131	2.639000	0.89480	0.555000	0.69702	GGA		0.388	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
TAF5	6877	broad.mit.edu	37	10	105147386	105147386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105147386G>T	ENST00000369839.3	+	10	2139	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	TAF5_ENST00000351396.4_Nonsense_Mutation_p.E651*	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	706					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E706*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GATGGTTGGAGAATTAAAAGG	0.403																																					p.E706X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2116T	10						.						185.0	183.0	184.0					10																	105147386		2203	4300	6503	105137376	SO:0001587	stop_gained	6877	exon10			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2116G>T	10.37:g.105147386G>T	ENSP00000358854:p.Glu706*		105137376	NM_006951	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Nonsense_Mutation	SNP	ENST00000369839.3	37	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399697	0.96030	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.2989	19.359	0.94428	0.0:0.0:1.0:0.0	.	.	.	.	X	706;651	.	ENSP00000311024:E651X	E	+	1	0	TAF5	105137376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.459000	0.97638	2.552000	0.86080	0.557000	0.71058	GAA		0.403	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
SLK	9748	broad.mit.edu	37	10	105752806	105752806	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105752806G>T	ENST00000369755.3	+	4	974	c.429G>T	c.(427-429)ttG>ttT	p.L143F	SLK_ENST00000335753.4_Missense_Mutation_p.L143F	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.L143F(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAGATGCATTGAACTACTTAC	0.338																																					p.L143F	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	10						.						91.0	94.0	93.0					10																	105752806		2202	4298	6500	105742796	SO:0001583	missense	9748	exon4				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.429G>T	10.37:g.105752806G>T	ENSP00000358770:p.Leu143Phe		105742796	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.991060	0.54041	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.74632	-0.86;-0.86	5.16	3.28	0.37604	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	D	0.87478	0.6187	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89120	0.3502	10	0.87932	D	0	.	11.2991	0.49295	0.1497:0.0:0.8503:0.0	.	143;143	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	F	143	ENSP00000336824:L143F;ENSP00000358770:L143F	ENSP00000336824:L143F	L	+	3	2	SLK	105742796	1.000000	0.71417	0.992000	0.48379	0.477000	0.33069	1.419000	0.34793	1.165000	0.42670	0.557000	0.71058	TTG		0.338	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SLK	9748	broad.mit.edu	37	10	105762404	105762404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105762404G>T	ENST00000369755.3	+	9	2013	c.1468G>T	c.(1468-1470)Gaa>Taa	p.E490*	SLK_ENST00000335753.4_Nonsense_Mutation_p.E490*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	490	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E490*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAATCTGAAGAAATTAAAGA	0.313																																					p.E490X	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1468T	10						.						36.0	39.0	38.0					10																	105762404		2178	4294	6472	105752394	SO:0001587	stop_gained	9748	exon9				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1468G>T	10.37:g.105762404G>T	ENSP00000358770:p.Glu490*		105752394	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	40	8.026921	0.98616	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	6.03	6.03	0.97812	.	0.207935	0.41605	D	0.000842	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.1377	0.93435	0.0:0.0:1.0:0.0	.	.	.	.	X	490	.	ENSP00000336824:E490X	E	+	1	0	SLK	105752394	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	2.161000	0.42358	2.868000	0.98415	0.555000	0.69702	GAA		0.313	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SLK	9748	broad.mit.edu	37	10	105762800	105762800	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105762800A>C	ENST00000369755.3	+	9	2409	c.1864A>C	c.(1864-1866)Aac>Cac	p.N622H	SLK_ENST00000335753.4_Missense_Mutation_p.N622H	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	622	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.N622H(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAAGCAATAAACAGTTCAGA	0.388																																					p.N622H	NSCLC(111;540 1651 1927 4474 17706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1864C	10						.						59.0	56.0	57.0					10																	105762800		2203	4300	6503	105752790	SO:0001583	missense	9748	exon9				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1864A>C	10.37:g.105762800A>C	ENSP00000358770:p.Asn622His		105752790	NM_014720	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	7.714	0.695686	0.15106	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69040	-0.36;-0.37	5.61	4.47	0.54385	Protein kinase-like domain (1);	1.297720	0.04522	N	0.384841	T	0.61489	0.2351	N	0.24115	0.695	0.09310	N	1	P;B	0.36315	0.547;0.412	B;B	0.41036	0.346;0.188	T	0.54576	-0.8273	10	0.52906	T	0.07	.	10.0801	0.42384	0.9237:0.0:0.0763:0.0	.	622;622	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	H	622	ENSP00000336824:N622H;ENSP00000358770:N622H	ENSP00000336824:N622H	N	+	1	0	SLK	105752790	0.000000	0.05858	0.013000	0.15412	0.570000	0.35934	0.678000	0.25277	0.959000	0.37980	0.454000	0.30748	AAC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
SFR1	119392	broad.mit.edu	37	10	105883568	105883568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105883568G>T	ENST00000369727.3	+	3	251	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	SFR1_ENST00000369729.3_Nonsense_Mutation_p.E65*|SFR1_ENST00000336358.5_Nonsense_Mutation_p.E140*	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	78					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.E65*(1)|p.E65K(1)									AGAGAGTGAAGAAAATGATCA	0.333																																					p.E78X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|endometrium(1)	c.G232T	10						.						64.0	71.0	68.0					10																	105883568		2203	4296	6499	105873558	SO:0001587	stop_gained	119392	exon3			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.232G>T	10.37:g.105883568G>T	ENSP00000358742:p.Glu78*		105873558	NM_001002759	A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Nonsense_Mutation	SNP	ENST00000369727.3	37	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783476	0.90282	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	.	.	.	5.72	5.72	0.89469	.	0.211720	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7245	20.2764	0.98486	0.0:0.0:1.0:0.0	.	.	.	.	X	65;78;140	.	ENSP00000338089:E140X	E	+	1	0	SFR1	105873558	1.000000	0.71417	0.865000	0.33974	0.966000	0.64601	7.924000	0.87555	2.880000	0.98712	0.655000	0.94253	GAA		0.333	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247	
CFAP43	80217	broad.mit.edu	37	10	105985307	105985307	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:105985307G>A	ENST00000278064.2	-	3	443	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	WDR96_ENST00000369719.1_Missense_Mutation_p.L40F|WDR96_ENST00000357060.3_Missense_Mutation_p.L110F|WDR96_ENST00000428666.1_Missense_Mutation_p.L110F|WDR96_ENST00000369720.1_Missense_Mutation_p.L40F														p.L110F(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTCCAGGAGAATGTTGCCT	0.373																																					p.L110F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328T	10						.						79.0	72.0	74.0					10																	105985307		2202	4300	6502	105975297	SO:0001583	missense	80217	exon3																														ENST00000278064.2:c.118C>T	10.37:g.105985307G>A	ENSP00000278064:p.Leu40Phe		105975297	NM_025145		Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	G	19.34	3.808984	0.70797	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38381	N	0.001717	T	0.30634	0.0771	L	0.40543	1.245	0.26026	N	0.981809	D;D;D	0.67145	0.982;0.996;0.979	P;P;P	0.62014	0.788;0.897;0.666	T	0.04229	-1.0967	10	0.56958	D	0.05	.	15.361	0.74475	0.0:0.0:0.8599:0.1401	.	110;110;110	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	F	110;110;40;40;40	ENSP00000349568:L110F;ENSP00000400289:L110F;ENSP00000278064:L40F;ENSP00000358734:L40F;ENSP00000358733:L40F	ENSP00000278064:L40F	L	-	1	0	WDR96	105975297	1.000000	0.71417	0.982000	0.44146	0.910000	0.53928	4.130000	0.57964	2.733000	0.93635	0.655000	0.94253	CTC		0.373	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
GSTO2	119391	broad.mit.edu	37	10	106058959	106058959	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106058959C>A	ENST00000338595.2	+	7	969	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	GSTO2_ENST00000429569.2_Missense_Mutation_p.S119Y|GSTO2_ENST00000450629.2_Missense_Mutation_p.L183I|GSTO2_ENST00000369707.2_Missense_Mutation_p.L189I	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	217	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)	p.L217I(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CTGTGCTCTTCTCATGGATAA	0.522																																					p.L183I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547A	10						.						114.0	108.0	110.0					10																	106058959		2203	4300	6503	106048949	SO:0001583	missense	119391	exon6			AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.649C>A	10.37:g.106058959C>A	ENSP00000345023:p.Leu217Ile		106048949	NM_001191013	A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	CCDS7556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.194|8.194	0.796733|0.796733	0.16327|0.16327	.|.	.|.	ENSG00000065621|ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000369707|ENST00000429569	T;T;T|T	0.16457|0.15718	2.34;2.34;2.34|2.4	5.9|5.9	-0.406|-0.406	0.12389|0.12389	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);|.	0.806631|.	0.11993|.	N|.	0.509665|.	T|T	0.10078|0.10078	0.0247|0.0247	N|N	0.26042|0.26042	0.785|0.785	0.09310|0.09310	N|N	1|1	B;B|B	0.10296|0.02656	0.003;0.0|0.0	B;B|B	0.08055|0.01281	0.002;0.003|0.0	T|T	0.31668|0.31668	-0.9935|-0.9935	10|9	0.27785|0.56958	T|D	0.31|0.05	-4.7224|-4.7224	3.2099|3.2099	0.06678|0.06678	0.296:0.381:0.0:0.3229|0.296:0.381:0.0:0.3229	.|.	183;217|119	B4DJW6;Q9H4Y5|B4DML4	.;GSTO2_HUMAN|.	I|Y	217;217;183;189|119	ENSP00000345023:L217I;ENSP00000390986:L183I;ENSP00000358721:L189I|ENSP00000407381:S119Y	ENSP00000345023:L217I|ENSP00000407381:S119Y	L|S	+|+	1|2	0|0	GSTO2|GSTO2	106048949|106048949	0.005000|0.005000	0.15991|0.15991	0.011000|0.011000	0.14972|0.14972	0.097000|0.097000	0.18754|0.18754	-0.238000|-0.238000	0.08977|0.08977	-0.110000|-0.110000	0.12022|0.12022	0.563000|0.563000	0.77884|0.77884	CTC|TCT		0.522	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239	
CFAP58	159686	broad.mit.edu	37	10	106130676	106130676	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106130676A>C	ENST00000369704.3	+	7	1088	c.954A>C	c.(952-954)caA>caC	p.Q318H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		318						extracellular space (GO:0005615)		p.Q318H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAGTCCATCAAATGCGCCTTG	0.408																																					p.Q318H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A954C	10						.						68.0	63.0	65.0					10																	106130676		2203	4300	6503	106120666	SO:0001583	missense	159686	exon7																														ENST00000369704.3:c.954A>C	10.37:g.106130676A>C	ENSP00000358718:p.Gln318His		106120666	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540471	0.65085	.	.	ENSG00000120051	ENST00000369704	T	0.33438	1.41	5.79	2.89	0.33648	.	0.048650	0.85682	D	0.000000	T	0.40448	0.1117	L	0.61036	1.89	0.80722	D	1	P	0.40638	0.725	P	0.52881	0.712	T	0.12243	-1.0555	10	0.48119	T	0.1	-15.4375	5.9271	0.19118	0.2839:0.1279:0.5882:0.0	.	318	Q5T655	CC147_HUMAN	H	318	ENSP00000358718:Q318H	ENSP00000358718:Q318H	Q	+	3	2	CCDC147	106120666	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.970000	0.40520	0.341000	0.23771	-0.366000	0.07423	CAA		0.408	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
CFAP58	159686	broad.mit.edu	37	10	106159137	106159137	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106159137G>T	ENST00000369704.3	+	12	1828	c.1694G>T	c.(1693-1695)aGa>aTa	p.R565I	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		565						extracellular space (GO:0005615)		p.R565I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAGAAGCTGAGACAACAAGCC	0.473																																					p.R565I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1694T	10						.						57.0	57.0	57.0					10																	106159137		2203	4300	6503	106149127	SO:0001583	missense	159686	exon12																														ENST00000369704.3:c.1694G>T	10.37:g.106159137G>T	ENSP00000358718:p.Arg565Ile		106149127	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848960	0.51164	.	.	ENSG00000120051	ENST00000369704	T	0.42131	0.98	5.54	4.62	0.57501	.	0.146523	0.64402	D	0.000013	T	0.26991	0.0661	N	0.24115	0.695	0.80722	D	1	B	0.17465	0.022	B	0.23574	0.047	T	0.10660	-1.0620	10	0.44086	T	0.13	-3.6068	6.2525	0.20854	0.1908:0.1544:0.6547:0.0	.	565	Q5T655	CC147_HUMAN	I	565	ENSP00000358718:R565I	ENSP00000358718:R565I	R	+	2	0	CCDC147	106149127	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.177000	0.50871	2.776000	0.95493	0.650000	0.86243	AGA		0.473	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
CFAP58	159686	broad.mit.edu	37	10	106214193	106214193	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106214193G>A	ENST00000369704.3	+	18	2658	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		842						extracellular space (GO:0005615)		p.A842T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAGGACACAGCACCCATGGA	0.428																																					p.A842T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2524A	10						.						219.0	199.0	206.0					10																	106214193		2203	4300	6503	106204183	SO:0001583	missense	159686	exon18																														ENST00000369704.3:c.2524G>A	10.37:g.106214193G>A	ENSP00000358718:p.Ala842Thr		106204183	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	0.169	-1.073423	0.01918	.	.	ENSG00000120051	ENST00000369704	T	0.41758	0.99	5.47	-2.31	0.06765	.	0.941217	0.09056	N	0.854989	T	0.24851	0.0603	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.14252	T	0.57	-0.1233	2.3752	0.04340	0.261:0.4337:0.1739:0.1314	.	842	Q5T655	CC147_HUMAN	T	842	ENSP00000358718:A842T	ENSP00000358718:A842T	A	+	1	0	CCDC147	106204183	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.554000	0.06006	-0.121000	0.11787	-0.312000	0.09012	GCA		0.428	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
SORCS3	22986	broad.mit.edu	37	10	106602567	106602567	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106602567G>A	ENST00000369701.3	+	2	872	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.T215T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTATCCTGACGAAGCTGTATG	0.463																																					p.T215T	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G645A	10						.						99.0	90.0	93.0					10																	106602567		2203	4300	6503	106592557	SO:0001819	synonymous_variant	22986	exon2			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.645G>A	10.37:g.106602567G>A			106592557	NM_014978	Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	CCDS7558.1																																																																																				0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS3	22986	broad.mit.edu	37	10	106907471	106907471	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:106907471C>T	ENST00000369701.3	+	9	1626	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	467					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R467C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCAGACACGCGTGGGATTTA	0.453																																					p.R467C	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1399T	10						.						251.0	200.0	217.0					10																	106907471		2203	4299	6502	106897461	SO:0001583	missense	22986	exon9			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1399C>T	10.37:g.106907471C>T	ENSP00000358715:p.Arg467Cys		106897461	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404219	0.62288	.	.	ENSG00000156395	ENST00000369701	T	0.23552	1.9	5.42	4.51	0.55191	VPS10 (1);	0.270717	0.37393	N	0.002119	T	0.49098	0.1537	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.66351	0.943	T	0.55211	-0.8176	10	0.87932	D	0	.	15.5495	0.76137	0.1487:0.8513:0.0:0.0	.	467	Q9UPU3	SORC3_HUMAN	C	467	ENSP00000358715:R467C	ENSP00000358715:R467C	R	+	1	0	SORCS3	106897461	0.725000	0.28048	0.878000	0.34440	0.859000	0.49053	1.486000	0.35530	1.385000	0.46445	-0.284000	0.09977	CGT		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS1	114815	broad.mit.edu	37	10	108377917	108377917	+	Silent	SNP	G	G	A	rs138510886		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:108377917G>A	ENST00000263054.6	-	21	2917	c.2910C>T	c.(2908-2910)atC>atT	p.I970I	SORCS1_ENST00000369698.1_Silent_p.I505I|SORCS1_ENST00000344440.6_Silent_p.I970I|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	970					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.I970I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CATATACTGCGATGGTCTTTG	0.493																																					p.I970I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2910T	10						.	G	,,,,,	0,4406		0,0,2203	252.0	195.0	215.0		2910,2910,2910,2910,2910,2910	-3.3	0.9	10	dbSNP_134	215	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	970/1199,970/1180,970/1131,970/1160,970/1180,970/1169	108377917	1,13005	2203	4300	6503	108367907	SO:0001819	synonymous_variant	114815	exon21			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2910C>T	10.37:g.108377917G>A			108367907	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	broad.mit.edu	37	10	108412302	108412302	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:108412302C>T	ENST00000263054.6	-	18	2320	c.2313G>A	c.(2311-2313)aaG>aaA	p.K771K	SORCS1_ENST00000369698.1_Silent_p.K306K|SORCS1_ENST00000344440.6_Silent_p.K771K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	771					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.K771K(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGAAACCACCTTCCTGTACC	0.478																																					p.K771K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2313A	10						.						107.0	102.0	104.0					10																	108412302		2203	4300	6503	108402292	SO:0001819	synonymous_variant	114815	exon18			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2313G>A	10.37:g.108412302C>T			108402292	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1																																																																																				0.478	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
XPNPEP1	7511	broad.mit.edu	37	10	111629770	111629770	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:111629770C>A	ENST00000502935.1	-	19	1833	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.D529Y|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403																																					p.D548Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1642T	10						.						66.0	62.0	63.0					10																	111629770		2203	4300	6503	111619760	SO:0001583	missense	7511	exon18				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1714G>T	10.37:g.111629770C>A	ENSP00000421566:p.Asp572Tyr		111619760	NM_001167604		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910743	0.92107	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.97	5.97	0.96955	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92126	0.5708	10	0.87932	D	0	-19.6738	18.6193	0.91316	0.0:1.0:0.0:0.0	.	572;529	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	Y	572;458;548;529	ENSP00000421566:D572Y;ENSP00000358697:D458Y;ENSP00000324011:D548Y;ENSP00000358694:D529Y	ENSP00000324011:D548Y	D	-	1	0	XPNPEP1	111619760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.274000	0.78538	2.836000	0.97738	0.655000	0.94253	GAT		0.403	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		
XPNPEP1	7511	broad.mit.edu	37	10	111667493	111667493	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:111667493C>T	ENST00000502935.1	-	3	321	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E25K|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E68K					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.E25K(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGGATCGGTTCGGTCACATAC	0.522																																					p.E68K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	10						.						250.0	210.0	224.0					10																	111667493		2203	4300	6503	111657483	SO:0001583	missense	7511	exon3				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.202G>A	10.37:g.111667493C>T	ENSP00000421566:p.Glu68Lys		111657483	NM_001167604		Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698235	0.48307	.	.	ENSG00000108039	ENST00000502935;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.33	5.33	0.75918	Creatinase (1);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	L	0.28694	0.88	0.58432	D	0.999997	B;B;B	0.25272	0.087;0.122;0.018	B;B;B	0.17722	0.019;0.017;0.019	T	0.33007	-0.9885	9	0.12766	T	0.61	-15.3116	15.934	0.79688	0.0:1.0:0.0:0.0	.	68;68;25	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	K	68;68;25;25;25	.	ENSP00000324011:E68K	E	-	1	0	XPNPEP1	111657483	1.000000	0.71417	0.994000	0.49952	0.533000	0.34776	5.175000	0.65021	2.504000	0.84457	0.655000	0.94253	GAA		0.522	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		
DUSP5	1847	broad.mit.edu	37	10	112266841	112266841	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112266841A>C	ENST00000369583.3	+	3	961	c.677A>C	c.(676-678)aAa>aCa	p.K226T	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	226	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K226T(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CTACACTACAAATGGATCCCT	0.532																																					p.K226T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A677C	10						.						156.0	156.0	156.0					10																	112266841		2203	4300	6503	112256831	SO:0001583	missense	1847	exon3			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.677A>C	10.37:g.112266841A>C	ENSP00000358596:p.Lys226Thr		112256831	NM_004419	Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033961	0.93575	.	.	ENSG00000138166	ENST00000369583	D	0.85411	-1.98	5.63	5.63	0.86233	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95531	0.8603	10	0.87932	D	0	.	15.0207	0.71630	1.0:0.0:0.0:0.0	.	226	Q16690	DUS5_HUMAN	T	226	ENSP00000358596:K226T	ENSP00000358596:K226T	K	+	2	0	DUSP5	112256831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	AAA		0.532	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	
SMC3	9126	broad.mit.edu	37	10	112337595	112337595	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112337595C>T	ENST00000361804.4	+	6	399	c.273C>T	c.(271-273)atC>atT	p.I91I	SMC3_ENST00000462899.1_3'UTR|snoU13_ENST00000458966.1_RNA	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	91					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.I91I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTTCTTAGATCGATAAAGAGG	0.294																																					p.I91I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C273T	10						.						64.0	66.0	65.0					10																	112337595		2203	4300	6503	112327585	SO:0001819	synonymous_variant	9126	exon6			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.273C>T	10.37:g.112337595C>T			112327585	NM_005445	A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	CCDS31285.1																																																																																				0.294	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
SMC3	9126	broad.mit.edu	37	10	112350302	112350302	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112350302A>G	ENST00000361804.4	+	16	1768	c.1642A>G	c.(1642-1644)Aca>Gca	p.T548A		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	548	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.T548A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGCTTTCTACACATGCGTGGA	0.363																																					p.T548A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1642G	10						.						104.0	103.0	103.0					10																	112350302		2203	4300	6503	112340292	SO:0001583	missense	9126	exon16			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1642A>G	10.37:g.112350302A>G	ENSP00000354720:p.Thr548Ala		112340292	NM_005445	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519384	0.85495	.	.	ENSG00000108055	ENST00000361804	D	0.86230	-2.09	5.91	5.91	0.95273	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88295	0.6398	M	0.71871	2.18	0.80722	D	1	P	0.48834	0.916	P	0.45099	0.469	D	0.88410	0.3021	10	0.44086	T	0.13	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	548	Q9UQE7	SMC3_HUMAN	A	548	ENSP00000354720:T548A	ENSP00000354720:T548A	T	+	1	0	SMC3	112340292	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.962000	0.93254	2.254000	0.74563	0.533000	0.62120	ACA		0.363	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
PDCD4	27250	broad.mit.edu	37	10	112655829	112655829	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112655829G>T	ENST00000280154.7	+	11	1607	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	MIR4680_ENST00000580906.1_RNA|PDCD4_ENST00000393104.2_Missense_Mutation_p.D434Y	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	445	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D445Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACAACTCAGAGATCTTTGTCC	0.363																																					p.D434Y	Ovarian(115;1498 1603 9363 40056 40885)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300T	10						.						70.0	71.0	71.0					10																	112655829		2202	4300	6502	112645819	SO:0001583	missense	27250	exon12			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1333G>T	10.37:g.112655829G>T	ENSP00000280154:p.Asp445Tyr		112645819	NM_145341	B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928966	0.92389	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.33216	1.42;1.43	5.97	5.97	0.96955	Initiation factor eIF-4 gamma, MA3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.78223	2.4	0.80722	D	1	D;D;D	0.56287	0.975;0.975;0.975	P;P;P	0.52109	0.69;0.69;0.69	T	0.49184	-0.8966	10	0.48119	T	0.1	-23.064	20.4238	0.99064	0.0:0.0:1.0:0.0	.	431;445;434	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	Y	445;434	ENSP00000280154:D445Y;ENSP00000376816:D434Y	ENSP00000280154:D445Y	D	+	1	0	PDCD4	112645819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.834000	0.97654	0.650000	0.86243	GAT		0.363	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456	
SHOC2	8036	broad.mit.edu	37	10	112724663	112724663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112724663G>T	ENST00000369452.4	+	2	892	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	SHOC2_ENST00000265277.5_Nonsense_Mutation_p.E183*|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	183					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.E183*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TAAACTGAGAGAAATTCCTTC	0.398																																					p.E183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G547T	10						.						88.0	94.0	92.0					10																	112724663		2203	4299	6502	112714653	SO:0001587	stop_gained	8036	exon2			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.547G>T	10.37:g.112724663G>T	ENSP00000358464:p.Glu183*		112714653	NM_007373	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Nonsense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747368	0.89663	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.7369	0.96210	0.0:0.0:1.0:0.0	.	.	.	.	X	183;183;19	.	ENSP00000265277:E183X	E	+	1	0	SHOC2	112714653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.665000	0.90641	0.561000	0.74099	GAA		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
SHOC2	8036	broad.mit.edu	37	10	112769479	112769479	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112769479C>A	ENST00000369452.4	+	8	1776	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	SHOC2_ENST00000265277.5_Silent_p.V431V|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	477					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.V477V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGAAATTAGTCTTGACAAACA	0.328																																					p.V477V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431A	10						.						51.0	48.0	49.0					10																	112769479		2203	4300	6503	112759469	SO:0001819	synonymous_variant	8036	exon8			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1431C>A	10.37:g.112769479C>A			112759469	NM_007373	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	CCDS7568.1																																																																																				0.328	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
SHOC2	8036	broad.mit.edu	37	10	112771467	112771467	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:112771467G>T	ENST00000369452.4	+	9	1985	c.1640G>T	c.(1639-1641)aGt>aTt	p.S547I	SHOC2_ENST00000265277.5_Missense_Mutation_p.S501I	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	547					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.S547I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCAATCATGAGTATTGAGAAC	0.478																																					p.S547I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1640T	10						.						137.0	128.0	131.0					10																	112771467		2203	4300	6503	112761457	SO:0001583	missense	8036	exon9			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1640G>T	10.37:g.112771467G>T	ENSP00000358464:p.Ser547Ile		112761457	NM_007373	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	ENST00000369452.4	37	CCDS7568.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432628	0.62844	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;D	0.83591	1.81;1.81;-1.74	5.64	4.74	0.60224	.	0.071451	0.85682	D	0.000000	D	0.89959	0.6866	M	0.78637	2.42	0.80722	D	1	B;D	0.76494	0.207;0.999	B;D	0.67103	0.158;0.949	D	0.88489	0.3074	10	0.24483	T	0.36	.	16.6894	0.85317	0.0:0.1297:0.8703:0.0	.	501;547	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	I	501;547;337	ENSP00000265277:S501I;ENSP00000358464:S547I;ENSP00000408275:S337I	ENSP00000265277:S501I	S	+	2	0	SHOC2	112761457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	1.358000	0.45922	0.655000	0.94253	AGT		0.478	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
GPAM	57678	broad.mit.edu	37	10	113920419	113920419	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:113920419C>T	ENST00000348367.4	-	16	1899	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	GPAM_ENST00000369425.1_Missense_Mutation_p.E568K|GPAM_ENST00000423155.1_Missense_Mutation_p.E568K			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	568					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.E568K(1)		breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAGTTGAGTTCGAAGACTGAT	0.428																																					p.E568K	Ovarian(161;1017 2606 18293 52943)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1702A	10						.						130.0	113.0	119.0					10																	113920419		2203	4300	6503	113910409	SO:0001583	missense	57678	exon16			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1702G>A	10.37:g.113920419C>T	ENSP00000265276:p.Glu568Lys		113910409	NM_020918	Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377209	0.95945	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.71461	-0.57;-0.57;-0.54	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.972	T	0.75775	-0.3199	10	0.22706	T	0.39	-23.5746	18.3607	0.90374	0.0:1.0:0.0:0.0	.	568;568	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	K	568	ENSP00000265276:E568K;ENSP00000409242:E568K;ENSP00000358433:E568K	ENSP00000265276:E568K	E	-	1	0	GPAM	113910409	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.368000	0.79567	2.777000	0.95525	0.655000	0.94253	GAA		0.428	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918	
TECTB	6975	broad.mit.edu	37	10	114044301	114044301	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:114044301C>A	ENST00000369422.3	+	2	85	c.85C>A	c.(85-87)Ctt>Att	p.L29I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	29	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L29I(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		AGATGTCATTCTTGTGTTTTG	0.458																																					p.L29I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C85A	10						.						92.0	84.0	87.0					10																	114044301		2203	4300	6503	114034291	SO:0001583	missense	6975	exon2			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.85C>A	10.37:g.114044301C>A	ENSP00000358430:p.Leu29Ile		114034291	NM_058222	Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368426	0.24771	.	.	ENSG00000119913	ENST00000369422	T	0.74209	-0.82	5.52	5.52	0.82312	Zona pellucida sperm-binding protein (1);	0.201648	0.51477	D	0.000091	T	0.50120	0.1597	N	0.03177	-0.4	0.42160	D	0.991596	B	0.14012	0.009	B	0.17722	0.019	T	0.49588	-0.8924	10	0.35671	T	0.21	.	9.0252	0.36224	0.1479:0.7781:0.0:0.0739	.	29	Q96PL2	TECTB_HUMAN	I	29	ENSP00000358430:L29I	ENSP00000358430:L29I	L	+	1	0	TECTB	114034291	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.616000	0.36933	2.760000	0.94817	0.655000	0.94253	CTT		0.458	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222	
ZDHHC6	64429	broad.mit.edu	37	10	114192019	114192019	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:114192019G>T	ENST00000369405.3	-	10	1540	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.L369I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	373					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.L373I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		GAATCATCAAGAATTTTGTCT	0.269																																					p.L373I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1117A	10						.						64.0	66.0	65.0					10																	114192019		2202	4297	6499	114182009	SO:0001583	missense	64429	exon10			AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1117C>A	10.37:g.114192019G>T	ENSP00000358413:p.Leu373Ile		114182009	NM_022494	D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024901	0.35701	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.08546	3.08;3.08	6.17	5.24	0.73138	Src homology-3 domain (1);Variant SH3 (1);	0.219510	0.41712	D	0.000827	T	0.09642	0.0237	L	0.46947	1.48	0.40306	D	0.978661	B;B	0.30763	0.135;0.294	B;B	0.29942	0.022;0.109	T	0.10847	-1.0612	10	0.33940	T	0.23	-0.1718	13.9489	0.64104	0.0:0.0:0.7336:0.2664	.	369;373	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	I	373;369	ENSP00000358413:L373I;ENSP00000358412:L369I	ENSP00000358412:L369I	L	-	1	0	ZDHHC6	114182009	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.001000	0.40825	2.941000	0.99782	0.655000	0.94253	CTT		0.269	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494	
TCF7L2	6934	broad.mit.edu	37	10	114912121	114912121	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:114912121G>A	ENST00000355995.4	+	11	1698	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000355717.4_Silent_p.A421A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	397					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A397A(1)|p.A374A(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAGAGCAAGCGAAATACTACG	0.502			T	VTI1A	colorectal																																p.A370A			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1110A	10						.						186.0	192.0	190.0					10																	114912121		2203	4300	6503	114902111	SO:0001819	synonymous_variant	6934	exon10			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1191G>A	10.37:g.114912121G>A			114902111	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37																																																																																					0.502	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
NRAP	4892	broad.mit.edu	37	10	115364613	115364613	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115364613C>T	ENST00000359988.3	-	35	4226	c.3982G>A	c.(3982-3984)Gac>Aac	p.D1328N	NRAP_ENST00000369358.4_Missense_Mutation_p.D1336N|NRAP_ENST00000369360.3_Missense_Mutation_p.D1301N|NRAP_ENST00000360478.3_Missense_Mutation_p.D1293N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.D1328N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCGGGGGTCGTCTCTTACA	0.582																																					p.D1328N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3982A	10						.						74.0	78.0	77.0					10																	115364613		2203	4300	6503	115354603	SO:0001583	missense	4892	exon35				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3982G>A	10.37:g.115364613C>T	ENSP00000353078:p.Asp1328Asn		115354603	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472938	0.84640	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.84156	2.68	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.973;0.999;0.999;0.999	T	0.73180	-0.4064	10	0.72032	D	0.01	.	19.7905	0.96454	0.0:1.0:0.0:0.0	.	486;1328;1293;1328	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	N	1336;1301;1328;1293;486	ENSP00000358365:D1336N;ENSP00000358367:D1301N;ENSP00000353078:D1328N;ENSP00000353666:D1293N	ENSP00000353078:D1328N	D	-	1	0	NRAP	115354603	1.000000	0.71417	0.962000	0.40283	0.380000	0.30137	7.818000	0.86416	2.691000	0.91804	0.650000	0.86243	GAC		0.582	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115393892	115393892	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115393892G>T	ENST00000359988.3	-	15	1750	c.1506C>A	c.(1504-1506)atC>atA	p.I502I	NRAP_ENST00000369358.4_Silent_p.I502I|NRAP_ENST00000369360.3_Silent_p.I467I|NRAP_ENST00000360478.3_Silent_p.I467I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.I502I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCTGGGCATTGATTTTGGCTT	0.483																																					p.I502I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1506A	10						.						216.0	187.0	197.0					10																	115393892		2203	4300	6503	115383882	SO:0001819	synonymous_variant	4892	exon15				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1506C>A	10.37:g.115393892G>T			115383882	NM_198060		Silent	SNP	ENST00000359988.3	37	CCDS7579.1																																																																																				0.483	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115406696C>T	ENST00000359988.3	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000369358.4_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_Missense_Mutation_p.E327K|NRAP_ENST00000360478.3_Missense_Mutation_p.E327K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527																																					p.E327K												.	.	4	Substitution - Missense(3)|Substitution - Nonsense(1)	large_intestine(4)	c.G979A	10						.						249.0	194.0	213.0					10																	115406696		2203	4300	6503	115396686	SO:0001583	missense	4892	exon10				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.979G>A	10.37:g.115406696C>T	ENSP00000353078:p.Glu327Lys		115396686	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413299	0.62511	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.71	3.87	0.44632	.	0.142736	0.64402	D	0.000006	T	0.49779	0.1577	M	0.77313	2.365	0.37841	D	0.929041	P;P;P	0.49862	0.902;0.929;0.812	P;P;B	0.48795	0.544;0.59;0.311	T	0.54925	-0.8220	10	0.19590	T	0.45	.	12.5859	0.56416	0.0:0.8654:0.0:0.1346	.	327;327;327	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	327;327;327;327;56;56	ENSP00000358365:E327K;ENSP00000358367:E327K;ENSP00000353078:E327K;ENSP00000353666:E327K	ENSP00000353078:E327K	E	-	1	0	NRAP	115396686	1.000000	0.71417	0.977000	0.42913	0.923000	0.55619	5.461000	0.66699	0.884000	0.36064	0.643000	0.83706	GAA		0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115411573	115411573	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115411573G>T	ENST00000359988.3	-	7	908	c.664C>A	c.(664-666)Ctt>Att	p.L222I	NRAP_ENST00000369358.4_Missense_Mutation_p.L222I|NRAP_ENST00000369360.3_Missense_Mutation_p.L222I|NRAP_ENST00000360478.3_Missense_Mutation_p.L222I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.L222I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCACTTTGAAGCTGTGCCCCA	0.502																																					p.L222I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664A	10						.						92.0	69.0	77.0					10																	115411573		2203	4300	6503	115401563	SO:0001583	missense	4892	exon7				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.664C>A	10.37:g.115411573G>T	ENSP00000353078:p.Leu222Ile		115401563	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111899	0.20714	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	6.03	6.03	0.97812	.	0.169461	0.52532	D	0.000073	T	0.39332	0.1074	L	0.31420	0.93	0.34269	D	0.680811	P;B;B	0.35107	0.484;0.286;0.345	B;B;B	0.38225	0.268;0.175;0.196	T	0.44667	-0.9313	10	0.15952	T	0.53	.	16.0597	0.80832	0.0:0.0:1.0:0.0	.	222;222;222	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	I	222	ENSP00000358365:L222I;ENSP00000358367:L222I;ENSP00000353078:L222I;ENSP00000353666:L222I	ENSP00000353078:L222I	L	-	1	0	NRAP	115401563	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	5.202000	0.65169	2.868000	0.98415	0.555000	0.69702	CTT		0.502	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115423147	115423147	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115423147T>C	ENST00000359988.3	-	2	375	c.131A>G	c.(130-132)aAc>aGc	p.N44S	NRAP_ENST00000369358.4_Missense_Mutation_p.N44S|NRAP_ENST00000369360.3_Missense_Mutation_p.N44S|NRAP_ENST00000360478.3_Missense_Mutation_p.N44S	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.N44S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACTCACAAAGTTATTAACAGA	0.398																																					p.N44S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A131G	10						.						108.0	102.0	104.0					10																	115423147		2203	4300	6503	115413137	SO:0001583	missense	4892	exon2				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.131A>G	10.37:g.115423147T>C	ENSP00000353078:p.Asn44Ser		115413137	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683770	0.88639	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.68	5.68	0.88126	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	L	0.27053	0.805	0.54753	D	0.999984	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.983	D	0.89527	0.3782	10	0.44086	T	0.13	.	15.9355	0.79704	0.0:0.0:0.0:1.0	.	44;44;44	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	S	44	ENSP00000358365:N44S;ENSP00000358367:N44S;ENSP00000353078:N44S;ENSP00000353666:N44S	ENSP00000353078:N44S	N	-	2	0	NRAP	115413137	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.441000	0.80485	2.179000	0.69175	0.459000	0.35465	AAC		0.398	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
DCLRE1A	9937	broad.mit.edu	37	10	115609268	115609268	+	Silent	SNP	C	C	T	rs181214695	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115609268C>T	ENST00000361384.2	-	2	2513	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	DCLRE1A_ENST00000369305.1_Silent_p.P532P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	532	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.P532P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCAAATACTTCGGAGCAGGTG	0.373								Other identified genes with known or suspected DNA repair function					C|||	2	0.000399361	0.0	0.0	5008	,	,		19886	0.002		0.0	False		,,,				2504	0.0				p.P532P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1596A	10						.						114.0	117.0	116.0					10																	115609268		2203	4300	6503	115599258	SO:0001819	synonymous_variant	9937	exon2				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1596G>A	10.37:g.115609268C>T			115599258	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	CCDS7584.1																																																																																				0.373	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
DCLRE1A	9937	broad.mit.edu	37	10	115609698	115609698	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115609698G>T	ENST00000361384.2	-	2	2083	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S389Y	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	389					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.S389Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ATTATTTTGAGAAATAGGTTG	0.403								Other identified genes with known or suspected DNA repair function																													p.S389Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1166A	10						.						71.0	72.0	72.0					10																	115609698		2203	4300	6503	115599688	SO:0001583	missense	9937	exon2				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1166C>A	10.37:g.115609698G>T	ENSP00000355185:p.Ser389Tyr		115599688	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864477	0.32977	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.67523	-0.27;-0.27	5.89	-0.684	0.11331	.	0.541902	0.21231	N	0.077965	T	0.53206	0.1782	L	0.39898	1.24	0.09310	N	1	P	0.41947	0.766	B	0.39706	0.307	T	0.48410	-0.9038	10	0.39692	T	0.17	0.8053	10.8519	0.46775	0.469:0.0:0.531:0.0	.	389	Q6PJP8	DCR1A_HUMAN	Y	389	ENSP00000355185:S389Y;ENSP00000358311:S389Y	ENSP00000355185:S389Y	S	-	2	0	DCLRE1A	115599688	0.940000	0.31905	0.001000	0.08648	0.040000	0.13550	0.967000	0.29344	-0.425000	0.07371	0.557000	0.71058	TCT		0.403	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
TDRD1	56165	broad.mit.edu	37	10	115963246	115963246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:115963246G>T	ENST00000369280.1	+	8	1361	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	TDRD1_ENST00000369281.2_Nonsense_Mutation_p.E301*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.E10*|TDRD1_ENST00000251864.2_Nonsense_Mutation_p.E301*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.E301*			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	301					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.E301*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGCTTAAAAGAAACATATGC	0.388																																					p.E301X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G901T	10						.						75.0	77.0	76.0					10																	115963246		2203	4300	6503	115953236	SO:0001587	stop_gained	56165	exon8			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.901G>T	10.37:g.115963246G>T	ENSP00000358286:p.Glu301*		115953236	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469590	0.84533	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.36	5.36	0.76844	.	0.250879	0.41605	D	0.000856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-27.2656	14.5911	0.68365	0.0:0.0:1.0:0.0	.	.	.	.	X	301;301;301;10;301	.	ENSP00000251864:E301X	E	+	1	0	TDRD1	115953236	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	3.845000	0.55880	2.533000	0.85409	0.467000	0.42956	GAA		0.388	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
ABLIM1	3983	broad.mit.edu	37	10	116232816	116232816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:116232816C>A	ENST00000277895.5	-	10	1292	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	ABLIM1_ENST00000392952.3_Nonsense_Mutation_p.E111*|ABLIM1_ENST00000533213.2_Nonsense_Mutation_p.E339*|ABLIM1_ENST00000369252.4_Nonsense_Mutation_p.E339*|ABLIM1_ENST00000369253.2_Nonsense_Mutation_p.E57*|ABLIM1_ENST00000369266.3_Nonsense_Mutation_p.E111*	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	399					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.E339*(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCTGGACGTTCAATGTCATAA	0.423																																					p.E111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G331T	10						.						217.0	192.0	200.0					10																	116232816		2203	4300	6503	116222806	SO:0001587	stop_gained	3983	exon6			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1195G>T	10.37:g.116232816C>A	ENSP00000277895:p.Glu399*		116222806	NM_006720	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Nonsense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.378540|7.378540	0.98248|0.98248	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430|ENST00000392955	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.66426	.|0.2788	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68693	.|-0.5341	.|3	0.62326|.	D|.	0.03|.	.|.	15.2089|15.2089	0.73202|0.73202	0.0:0.8598:0.1402:0.0|0.0:0.8598:0.1402:0.0	.|.	.|.	.|.	.|.	X|F	399;339;111;57;367;339;427;323;111;323;323;427;111;64;83|307	.|.	ENSP00000277895:E427X|.	E|L	-|-	1|3	0|2	ABLIM1|ABLIM1	116222806|116222806	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.423	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
ABLIM1	3983	broad.mit.edu	37	10	116304803	116304803	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:116304803A>G	ENST00000277895.5	-	6	952	c.855T>C	c.(853-855)tgT>tgC	p.C285C	ABLIM1_ENST00000533213.2_Silent_p.C225C|ABLIM1_ENST00000369252.4_Silent_p.C225C	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	285	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.C225C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GACACGCCTCACATTTCACCC	0.557																																					p.C285C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T855C	10						.						181.0	163.0	169.0					10																	116304803		2203	4300	6503	116294793	SO:0001819	synonymous_variant	3983	exon6			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.855T>C	10.37:g.116304803A>G			116294793	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565990	0.27915	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.31	-3.33	0.04958	.	.	.	.	.	T	0.56499	0.1989	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53655	-0.8408	4	.	.	.	.	11.4525	0.50160	0.6112:0.0:0.3888:0.0	.	.	.	.	A	194	.	.	V	-	2	0	ABLIM1	116294793	1.000000	0.71417	0.903000	0.35520	0.960000	0.62799	1.001000	0.29783	-0.974000	0.03550	0.460000	0.39030	GTG		0.557	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
FAM160B1	57700	broad.mit.edu	37	10	116602892	116602892	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:116602892C>T	ENST00000369248.4	+	6	1058	c.723C>T	c.(721-723)aaC>aaT	p.N241N	FAM160B1_ENST00000369250.3_Silent_p.N241N	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	241								p.N241N(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCTTGGATAACCTCAGTGTCA	0.443																																					p.N241N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C723T	10						.						163.0	133.0	144.0					10																	116602892		2203	4300	6503	116592882	SO:0001819	synonymous_variant	57700	exon6			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.723C>T	10.37:g.116602892C>T			116592882	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	CCDS31290.1																																																																																				0.443	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
FAM160B1	57700	broad.mit.edu	37	10	116615010	116615010	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:116615010G>T	ENST00000369248.4	+	14	2193	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A620S	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	620								p.A620S(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTCTCCAAAAGCATTGGAAAA	0.383																																					p.A620S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1858T	10						.						101.0	101.0	101.0					10																	116615010		2203	4300	6503	116605000	SO:0001583	missense	57700	exon14			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1858G>T	10.37:g.116615010G>T	ENSP00000358251:p.Ala620Ser		116605000	NM_020940	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740141	0.49045	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.13420	2.6;2.59	5.66	4.74	0.60224	.	0.146457	0.64402	D	0.000007	T	0.11196	0.0273	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.10245	-1.0638	10	0.13108	T	0.6	-17.6787	11.097	0.48150	0.0:0.2467:0.6183:0.135	.	620;620	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	S	620	ENSP00000358251:A620S;ENSP00000358253:A620S	ENSP00000358251:A620S	A	+	1	0	FAM160B1	116605000	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.265000	0.43311	1.484000	0.48361	0.650000	0.86243	GCA		0.383	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351	
ATRNL1	26033	broad.mit.edu	37	10	116930820	116930820	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:116930820G>T	ENST00000355044.3	+	8	1244	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ATRNL1_ENST00000527407.1_Nonsense_Mutation_p.E344*|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	373					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R373I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TATGGAGGCAGAATTGAAACA	0.274																																					p.R373I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	10						.						114.0	108.0	110.0					10																	116930820		2203	4300	6503	116920810	SO:0001583	missense	26033	exon8			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1118G>T	10.37:g.116930820G>T	ENSP00000347152:p.Arg373Ile		116920810	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676737	0.47886	.	.	ENSG00000107518	ENST00000355044	T	0.29655	1.56	5.75	2.57	0.30868	Kelch-type beta propeller (1);	0.086330	0.85682	D	0.000000	T	0.19327	0.0464	L	0.48362	1.52	0.80722	D	1	B;P	0.41569	0.301;0.755	B;B	0.35770	0.21;0.203	T	0.04593	-1.0940	10	0.20046	T	0.44	-21.6857	5.261	0.15573	0.5474:0.0:0.4526:0.0	.	373;373	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	I	373	ENSP00000347152:R373I	ENSP00000347152:R373I	R	+	2	0	ATRNL1	116920810	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.754000	0.68743	0.797000	0.33971	-0.142000	0.14014	AGA		0.274	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
GFRA1	2674	broad.mit.edu	37	10	117823923	117823923	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:117823923T>A	ENST00000355422.6	-	11	1934	c.1384A>T	c.(1384-1386)Aca>Tca	p.T462S	GFRA1_ENST00000369236.1_Missense_Mutation_p.T457S|GFRA1_ENST00000439649.3_Missense_Mutation_p.T457S|GFRA1_ENST00000544592.1_Missense_Mutation_p.T341S	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	462					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.T457S(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GATGTTTCTGTTAAAGATAAT	0.413																																					p.T457S	Ovarian(128;329 1725 45498 46808 50759)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1369T	10						.						104.0	92.0	96.0					10																	117823923		2203	4300	6503	117813913	SO:0001583	missense	2674	exon10			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1384A>T	10.37:g.117823923T>A	ENSP00000347591:p.Thr462Ser		117813913	NM_001145453	A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	T	8.318	0.823556	0.16678	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T;T;T	0.39056	1.72;1.53;1.1;1.53	6.06	4.22	0.49857	.	0.810362	0.11287	N	0.579655	T	0.21921	0.0528	N	0.08118	0	0.18873	N	0.999984	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23261	-1.0193	10	0.21540	T	0.41	-1.0108	7.4278	0.27109	0.1425:0.7144:0.0:0.1431	.	462;457	P56159;P56159-2	GFRA1_HUMAN;.	S	462;457;457;341;457	ENSP00000358239:T457S;ENSP00000347591:T457S;ENSP00000442179:T341S;ENSP00000358237:T457S	ENSP00000347591:T457S	T	-	1	0	GFRA1	117813913	1.000000	0.71417	0.969000	0.41365	0.947000	0.59692	1.698000	0.37794	0.910000	0.36722	-0.798000	0.03219	ACA		0.413	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	
CCDC172	374355	broad.mit.edu	37	10	118100348	118100348	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118100348C>T	ENST00000333254.3	+	4	519	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	90								p.L90F(1)									TAGGAATATGCTTCTTCAAAC	0.274																																					p.L90F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268T	10						.						56.0	59.0	58.0					10																	118100348		2203	4287	6490	118090338	SO:0001583	missense	374355	exon4			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.268C>T	10.37:g.118100348C>T	ENSP00000329860:p.Leu90Phe		118090338	NM_198515		Missense_Mutation	SNP	ENST00000333254.3	37	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049716	0.36181	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.95	4.12	0.48240	.	0.070231	0.56097	N	0.000034	T	0.56572	0.1994	M	0.76002	2.32	0.40606	D	0.981623	P	0.41041	0.736	B	0.38500	0.275	T	0.61182	-0.7114	9	0.62326	D	0.03	-20.6727	10.7399	0.46147	0.0:0.8547:0.0:0.1453	.	90	P0C7W6	CJ096_HUMAN	F	90	.	ENSP00000329860:L90F	L	+	1	0	C10orf96	118090338	0.960000	0.32886	0.986000	0.45419	0.824000	0.46624	1.444000	0.35068	0.864000	0.35578	0.650000	0.86243	CTT		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515	
PNLIPRP3	119548	broad.mit.edu	37	10	118228827	118228827	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118228827C>T	ENST00000369230.3	+	9	1204	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	353					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.A353V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCCCATTTGCCCGTAAGTAT	0.323																																					p.A353V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058T	10						.						54.0	56.0	55.0					10																	118228827		2203	4299	6502	118218817	SO:0001583	missense	119548	exon9			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1058C>T	10.37:g.118228827C>T	ENSP00000358232:p.Ala353Val		118218817	NM_001011709		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735236	0.48939	.	.	ENSG00000203837	ENST00000369230	D	0.92858	-3.12	4.68	2.43	0.29744	.	0.155822	0.28166	N	0.016349	D	0.90177	0.6930	M	0.81802	2.56	0.25670	N	0.985901	P	0.37824	0.609	B	0.34301	0.179	D	0.84560	0.0649	10	0.72032	D	0.01	.	9.8823	0.41240	0.0:0.722:0.2019:0.0761	.	353	Q17RR3	LIPR3_HUMAN	V	353	ENSP00000358232:A353V	ENSP00000358232:A353V	A	+	2	0	PNLIPRP3	118218817	0.997000	0.39634	0.938000	0.37757	0.742000	0.42306	3.359000	0.52292	0.900000	0.36469	0.591000	0.81541	GCC		0.323	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
PNLIPRP3	119548	broad.mit.edu	37	10	118236203	118236203	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118236203C>T	ENST00000369230.3	+	11	1358	c.1212C>T	c.(1210-1212)atC>atT	p.I404I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	404	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.I404I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CAAAATTAATCGATGCAGATG	0.363																																					p.I404I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	10						.						122.0	118.0	119.0					10																	118236203		2203	4300	6503	118226193	SO:0001819	synonymous_variant	119548	exon11			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1212C>T	10.37:g.118236203C>T			118226193	NM_001011709		Silent	SNP	ENST00000369230.3	37	CCDS31292.1																																																																																				0.363	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
PNLIPRP2	5408	broad.mit.edu	37	10	118404564	118404564	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118404564G>A	ENST00000298771.7	+	0	1391				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.D455N(1)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTGTAGCAGCGACACTGTGGA	0.418																																					p.A456A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1368A	10						.						87.0	85.0	86.0					10																	118404564		1866	4111	5977	118394554			5408	exon13			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118404564G>A			118394554	NM_005396	A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37		.	.	.	.	.	.	.	.	.	.	G	11.30	1.597332	0.28445	.	.	ENSG00000165862	ENST00000537242	T	0.65364	-0.15	5.26	0.951	0.19579	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.540977	0.17220	N	0.182350	T	0.41259	0.1151	.	.	.	0.09310	N	1	B	0.18863	0.031	B	0.13407	0.009	T	0.16100	-1.0414	9	0.27785	T	0.31	.	4.9876	0.14198	0.1626:0.0:0.5477:0.2897	.	456	P54317	LIPR2_HUMAN	N	455	ENSP00000446346:D455N	ENSP00000446346:D455N	D	+	1	0	PNLIPRP2	118394554	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.018000	0.12568	0.200000	0.20447	0.650000	0.86243	GAC		0.418	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
KIAA1598	57698	broad.mit.edu	37	10	118689430	118689430	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118689430C>A	ENST00000355371.4	-	10	1439	c.942G>T	c.(940-942)gaG>gaT	p.E314D	KIAA1598_ENST00000392901.4_Missense_Mutation_p.E254D|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E314D|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E314D	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	314					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.E314D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TTTTATCTTCCTCTAGAAGCT	0.333																																					p.E314D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G942T	10						.						183.0	176.0	178.0					10																	118689430		2202	4299	6501	118679420	SO:0001583	missense	57698	exon10			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.942G>T	10.37:g.118689430C>A	ENSP00000347532:p.Glu314Asp		118679420	NM_018330	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303778	0.60305	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.12255	2.98;2.7;2.98;2.7	5.59	1.78	0.24846	.	0.046788	0.85682	D	0.000000	T	0.27098	0.0664	L	0.55743	1.74	0.40919	D	0.984299	D;D;P	0.61697	0.99;0.974;0.607	D;D;B	0.73380	0.98;0.969;0.12	T	0.00425	-1.1747	10	0.46703	T	0.11	-19.3396	9.1599	0.37016	0.0:0.2825:0.0:0.7175	.	314;314;284	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	D	314;314;314;254	ENSP00000376636:E314D;ENSP00000260777:E314D;ENSP00000347532:E314D;ENSP00000376635:E254D	ENSP00000260777:E314D	E	-	3	2	KIAA1598	118679420	0.998000	0.40836	0.997000	0.53966	0.936000	0.57629	0.161000	0.16481	-0.112000	0.11979	-0.361000	0.07541	GAG		0.333	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
KCNK18	338567	broad.mit.edu	37	10	118969148	118969148	+	Missense_Mutation	SNP	C	C	T	rs115251364	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118969148C>T	ENST00000334549.1	+	3	493	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	165					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.R165W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATCTTATAATCGGTTCCGAAA	0.507													C|||	16	0.00319489	0.0121	0.0	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.0				p.R165W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	10						.	C	TRP/ARG	44,4362	47.5+/-82.1	0,44,2159	134.0	133.0	133.0		493	2.6	0.0	10	dbSNP_132	133	0,8600		0,0,4300	yes	missense	KCNK18	NM_181840.1	101	0,44,6459	TT,TC,CC		0.0,0.9986,0.3383	benign	165/385	118969148	44,12962	2203	4300	6503	118959138	SO:0001583	missense	338567	exon3			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.493C>T	10.37:g.118969148C>T	ENSP00000334650:p.Arg165Trp		118959138	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	17.21	3.330987	0.60853	0.009986	0.0	ENSG00000186795	ENST00000334549	T	0.30182	1.54	4.83	2.64	0.31445	.	0.488989	0.20870	N	0.084199	T	0.11281	0.0275	L	0.27053	0.805	0.09310	N	1	P	0.37914	0.611	B	0.20955	0.032	T	0.07673	-1.0760	10	0.42905	T	0.14	.	9.7784	0.40634	0.356:0.5471:0.0969:0.0	.	165	Q7Z418	KCNKI_HUMAN	W	165	ENSP00000334650:R165W	ENSP00000334650:R165W	R	+	1	2	KCNK18	118959138	0.000000	0.05858	0.001000	0.08648	0.515000	0.34225	0.554000	0.23407	0.511000	0.28236	0.655000	0.94253	CGG		0.507	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
KCNK18	338567	broad.mit.edu	37	10	118969404	118969404	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118969404G>A	ENST00000334549.1	+	3	749	c.749G>A	c.(748-750)aGt>aAt	p.S250N		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	250	Interaction with YWHAH. {ECO:0000250}.				cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S250N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ATGGAGAGGAGTAACTCGTGT	0.537																																					p.S250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G749A	10						.						143.0	129.0	134.0					10																	118969404		2203	4300	6503	118959394	SO:0001583	missense	338567	exon3			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.749G>A	10.37:g.118969404G>A	ENSP00000334650:p.Ser250Asn		118959394	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505871	0.64410	.	.	ENSG00000186795	ENST00000334549	T	0.14766	2.48	5.4	5.4	0.78164	.	0.207303	0.49916	D	0.000122	T	0.17066	0.0410	L	0.36672	1.1	0.23916	N	0.996476	D	0.60575	0.988	P	0.52514	0.701	T	0.15350	-1.0440	10	0.15952	T	0.53	.	12.8646	0.57932	0.0748:0.0:0.9252:0.0	.	250	Q7Z418	KCNKI_HUMAN	N	250	ENSP00000334650:S250N	ENSP00000334650:S250N	S	+	2	0	KCNK18	118959394	1.000000	0.71417	0.409000	0.26459	0.142000	0.21351	3.889000	0.56212	2.704000	0.92352	0.655000	0.94253	AGT		0.537	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
KCNK18	338567	broad.mit.edu	37	10	118969597	118969597	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:118969597C>A	ENST00000334549.1	+	3	942	c.942C>A	c.(940-942)ttC>ttA	p.F314L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	314					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.F314L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AGAATGCCTTCTATTTCTGCT	0.458																																					p.F314L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C942A	10						.						329.0	277.0	295.0					10																	118969597		2203	4300	6503	118959587	SO:0001583	missense	338567	exon3			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.942C>A	10.37:g.118969597C>A	ENSP00000334650:p.Phe314Leu		118959587	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925334	0.73213	.	.	ENSG00000186795	ENST00000334549	T	0.26067	1.76	5.4	2.54	0.30619	Ion transport 2 (1);	0.051603	0.85682	D	0.000000	T	0.27765	0.0683	L	0.35288	1.05	0.58432	D	0.999996	P	0.37500	0.597	P	0.51016	0.656	T	0.03413	-1.1039	10	0.30854	T	0.27	.	7.9993	0.30286	0.0:0.6147:0.0:0.3853	.	314	Q7Z418	KCNKI_HUMAN	L	314	ENSP00000334650:F314L	ENSP00000334650:F314L	F	+	3	2	KCNK18	118959587	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.755000	0.26405	0.788000	0.33755	0.655000	0.94253	TTC		0.458	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
SLC18A2	6571	broad.mit.edu	37	10	119003750	119003750	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119003750A>G	ENST00000298472.5	+	3	533	c.390A>G	c.(388-390)caA>caG	p.Q130Q	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	130					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.Q130Q(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAAACGTGCAAGTTGGTCTGT	0.512																																					p.Q130Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A390G	10						.						81.0	71.0	75.0					10																	119003750		2203	4300	6503	118993740	SO:0001819	synonymous_variant	6571	exon3			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.390A>G	10.37:g.119003750A>G			118993740	NM_003054	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	CCDS7599.1																																																																																				0.512	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
SLC18A2	6571	broad.mit.edu	37	10	119029918	119029918	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119029918C>A	ENST00000298472.5	+	15	1527	c.1384C>A	c.(1384-1386)Ctt>Att	p.L462I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	462					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.L462I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AATTGATATTCTTTTTGCCCC	0.373																																					p.L462I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384A	10						.						193.0	178.0	183.0					10																	119029918		2203	4300	6503	119019908	SO:0001583	missense	6571	exon15			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1384C>A	10.37:g.119029918C>A	ENSP00000298472:p.Leu462Ile		119019908	NM_003054	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367537	0.24771	.	.	ENSG00000165646	ENST00000298472	D	0.81659	-1.52	5.5	2.24	0.28232	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.636741	0.16399	N	0.216135	T	0.65091	0.2658	L	0.39020	1.185	0.29592	N	0.848334	B	0.06786	0.001	B	0.06405	0.002	T	0.49854	-0.8895	10	0.13108	T	0.6	-3.9379	4.3755	0.11269	0.3589:0.4002:0.1711:0.0699	.	462	Q05940	VMAT2_HUMAN	I	462	ENSP00000298472:L462I	ENSP00000298472:L462I	L	+	1	0	SLC18A2	119019908	0.811000	0.29063	0.998000	0.56505	0.947000	0.59692	0.239000	0.18023	0.525000	0.28522	0.462000	0.41574	CTT		0.373	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054	
PDZD8	118987	broad.mit.edu	37	10	119044226	119044226	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119044226G>A	ENST00000334464.5	-	5	2257	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	673					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S673L(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACGGTCGTCCGAACTGTCCTT	0.433																																					p.S673L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2018T	10						.						98.0	95.0	96.0					10																	119044226		2203	4300	6503	119034216	SO:0001583	missense	118987	exon5			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2018C>T	10.37:g.119044226G>A	ENSP00000334642:p.Ser673Leu		119034216	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	0.276	-0.989754	0.02162	.	.	ENSG00000165650	ENST00000334464	D	0.85258	-1.96	5.87	4.96	0.65561	.	0.930568	0.09141	N	0.842913	T	0.75191	0.3816	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.62982	-0.6738	10	0.51188	T	0.08	-3.2894	5.301	0.15778	0.0728:0.2675:0.5213:0.1384	.	673	Q8NEN9	PDZD8_HUMAN	L	673	ENSP00000334642:S673L	ENSP00000334642:S673L	S	-	2	0	PDZD8	119034216	0.615000	0.27026	0.143000	0.22291	0.277000	0.26821	4.390000	0.59646	1.472000	0.48140	0.591000	0.81541	TCG		0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	
PDZD8	118987	broad.mit.edu	37	10	119049715	119049715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119049715G>A	ENST00000334464.5	-	4	1482	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	415	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R415*(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GCGATAAGTCGATCTCCCCGC	0.428																																					p.R415X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1243T	10						.						98.0	87.0	91.0					10																	119049715		2203	4300	6503	119039705	SO:0001587	stop_gained	118987	exon4			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1243C>T	10.37:g.119049715G>A	ENSP00000334642:p.Arg415*		119039705	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Nonsense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	37	6.440007	0.97568	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.48	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-8.4792	11.2069	0.48775	0.0:0.0:0.4813:0.5187	.	.	.	.	X	415	.	ENSP00000334642:R415X	R	-	1	2	PDZD8	119039705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.815000	0.55651	1.306000	0.44926	0.563000	0.77884	CGA		0.428	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	
EMX2	2018	broad.mit.edu	37	10	119305162	119305162	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119305162G>T	ENST00000553456.3	+	2	1250	c.426G>T	c.(424-426)gaG>gaT	p.E142D	EMX2_ENST00000546446.1_3'UTR|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	142					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E142D(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTAGCCCCGAGAGTTTCCTTT	0.637																																					p.E142D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	10						.						63.0	54.0	57.0					10																	119305162		2203	4300	6503	119295152	SO:0001583	missense	2018	exon2			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.426G>T	10.37:g.119305162G>T	ENSP00000450962:p.Glu142Asp		119295152	NM_004098	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899247	0.33535	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	2.63	0.31362	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	L	0.28344	0.845	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.23404	-1.0189	9	0.33940	T	0.23	-14.8166	11.6179	0.51099	0.2741:0.0:0.7259:0.0	.	142	Q04743	EMX2_HUMAN	D	142	.	ENSP00000358202:E142D	E	+	3	2	EMX2	119295152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.342000	0.33919	0.835000	0.34877	0.643000	0.83706	GAG		0.637	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098	
EMX2	2018	broad.mit.edu	37	10	119305283	119305283	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:119305283G>A	ENST00000553456.3	+	2	1371	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	EMX2_ENST00000546446.1_3'UTR|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	183					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E183K(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGTGGGCGCCGAAAGGAAGCA	0.642																																					p.E183K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	10						.						46.0	44.0	45.0					10																	119305283		2203	4300	6503	119295273	SO:0001583	missense	2018	exon2			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.547G>A	10.37:g.119305283G>A	ENSP00000450962:p.Glu183Lys		119295273	NM_004098	G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	G	37	6.610881	0.97705	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.62382	0.901	T	0.59888	-0.7369	9	0.33141	T	0.24	-12.3677	20.2806	0.98513	0.0:0.0:1.0:0.0	.	183	Q04743	EMX2_HUMAN	K	183	.	ENSP00000358202:E183K	E	+	1	0	EMX2	119295273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GAA		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098	
UPF2	26019	broad.mit.edu	37	10	11971886	11971886	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:11971886G>T	ENST00000356352.2	-	20	4260	c.3787C>A	c.(3787-3789)Cta>Ata	p.L1263I	UPF2_ENST00000397053.2_Missense_Mutation_p.L1263I|UPF2_ENST00000357604.5_Missense_Mutation_p.L1263I			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1263	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L1263I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAAGATTAGATCTGCATTA	0.458																																					p.L1263I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3787A	10						.						167.0	150.0	156.0					10																	11971886		2203	4300	6503	12011892	SO:0001583	missense	26019	exon21			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3787C>A	10.37:g.11971886G>T	ENSP00000348708:p.Leu1263Ile		12011892	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934381	0.92458	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.49720	0.77;0.77;0.77	5.23	5.23	0.72850	.	0.183519	0.36591	N	0.002513	T	0.66406	0.2786	M	0.65975	2.015	0.58432	D	0.99999	P	0.52842	0.956	P	0.62184	0.899	T	0.67868	-0.5559	10	0.54805	T	0.06	.	18.7827	0.91941	0.0:0.0:1.0:0.0	.	1263	Q9HAU5	RENT2_HUMAN	I	1263	ENSP00000348708:L1263I;ENSP00000350221:L1263I;ENSP00000380244:L1263I	ENSP00000348708:L1263I	L	-	1	2	UPF2	12011892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.439000	0.82584	0.462000	0.41574	CTA		0.458	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
UPF2	26019	broad.mit.edu	37	10	11998332	11998332	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:11998332C>T	ENST00000356352.2	-	12	3034	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	UPF2_ENST00000397053.2_Missense_Mutation_p.R854Q|UPF2_ENST00000357604.5_Missense_Mutation_p.R854Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	854	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R854Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATTCCTAATCGAATATCTTC	0.383																																					p.R854Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2561A	10						.						123.0	113.0	116.0					10																	11998332		2203	4300	6503	12038338	SO:0001583	missense	26019	exon13			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2561G>A	10.37:g.11998332C>T	ENSP00000348708:p.Arg854Gln		12038338	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385895	0.95967	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.20069	2.1;2.1;2.1	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.075912	0.53938	D	0.000045	T	0.50786	0.1636	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.49234	-0.8961	10	0.45353	T	0.12	.	19.4313	0.94768	0.0:1.0:0.0:0.0	.	854	Q9HAU5	RENT2_HUMAN	Q	854	ENSP00000348708:R854Q;ENSP00000350221:R854Q;ENSP00000380244:R854Q	ENSP00000348708:R854Q	R	-	2	0	UPF2	12038338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.277000	0.78572	2.596000	0.87737	0.484000	0.47621	CGA		0.383	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
FAM204A	63877	broad.mit.edu	37	10	120070408	120070408	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:120070408C>A	ENST00000369183.4	-	9	922	c.663G>T	c.(661-663)aaG>aaT	p.K221N	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.K221N	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	221								p.K221N(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						CCCATCTCTTCTTTGCTTCAA	0.328																																					p.K221N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G663T	10						.						120.0	109.0	113.0					10																	120070408		2203	4300	6503	120060398	SO:0001583	missense	63877	exon8			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.663G>T	10.37:g.120070408C>A	ENSP00000358183:p.Lys221Asn		120060398	NM_001134672	D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397874	0.83120	.	.	ENSG00000165669	ENST00000369183;ENST00000369172	.	.	.	6.08	6.08	0.98989	.	0.040549	0.85682	D	0.000000	T	0.73590	0.3606	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74325	-0.3702	9	0.87932	D	0	-21.6781	20.6647	0.99678	0.0:1.0:0.0:0.0	.	221	Q9H8W3	F204A_HUMAN	N	221	.	ENSP00000358170:K221N	K	-	3	2	FAM204A	120060398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.578000	0.67450	2.890000	0.99128	0.655000	0.94253	AAG		0.328	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063	
NANOS1	340719	broad.mit.edu	37	10	120796666	120796666	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:120796666C>T	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Missense_Mutation_p.R1261Q|EIF3A_ENST00000369144.3_Missense_Mutation_p.R1295Q	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R1295Q(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		AGGTCCTCTTCGGTCCCTGTC	0.532																																					p.R1295Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3884A	10						.						239.0	215.0	223.0					10																	120796666		2203	4300	6503	120786656	SO:0001628	intergenic_variant	8661	exon21			AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120796666C>T			120786656	NM_003750		Missense_Mutation	SNP	ENST00000425699.1	37	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704811	0.48412	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24538	1.85;1.85	4.81	4.81	0.61882	.	0.000000	0.33670	N	0.004672	T	0.39809	0.1092	L	0.50333	1.59	0.36511	D	0.869614	D	0.64830	0.994	P	0.61201	0.885	T	0.20472	-1.0274	10	0.15066	T	0.55	-10.7596	16.6052	0.84826	0.0:1.0:0.0:0.0	.	1295	Q14152	EIF3A_HUMAN	Q	1295;1261	ENSP00000358140:R1295Q;ENSP00000438178:R1261Q	ENSP00000358140:R1295Q	R	-	2	0	EIF3A	120786656	0.990000	0.36364	0.991000	0.47740	0.695000	0.40330	4.156000	0.58138	2.663000	0.90544	0.650000	0.86243	CGA		0.532	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1		
EIF3A	8661	broad.mit.edu	37	10	120801943	120801943	+	Missense_Mutation	SNP	C	C	T	rs138563024		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:120801943C>T	ENST00000369144.3	-	19	3216	c.3089G>A	c.(3088-3090)cGa>cAa	p.R1030Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R996Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1030Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCAGCTGTTCGCCAGCTTCC	0.582																																					p.R1030Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3089A	10						.	C	GLN/ARG	0,4406		0,0,2203	325.0	238.0	268.0		3089	6.2	1.0	10	dbSNP_134	268	2,8598	2.2+/-6.3	0,2,4298	no	missense	EIF3A	NM_003750.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1030/1383	120801943	2,13004	2203	4300	6503	120791933	SO:0001583	missense	8661	exon19			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3089G>A	10.37:g.120801943C>T	ENSP00000358140:p.Arg1030Gln		120791933	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	37	6.051757	0.97236	0.0	2.33E-4	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26518	1.73;1.74	6.17	6.17	0.99709	.	0.000000	0.35040	N	0.003496	T	0.54565	0.1866	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.71870	0.975;0.859	T	0.48703	-0.9012	10	0.54805	T	0.06	-11.3457	20.8794	0.99867	0.0:1.0:0.0:0.0	.	996;1030	F5H335;Q14152	.;EIF3A_HUMAN	Q	1030;996	ENSP00000358140:R1030Q;ENSP00000438178:R996Q	ENSP00000358140:R1030Q	R	-	2	0	EIF3A	120791933	0.999000	0.42202	0.980000	0.43619	0.998000	0.95712	4.336000	0.59304	2.941000	0.99782	0.655000	0.94253	CGA		0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
UPF2	26019	broad.mit.edu	37	10	12043687	12043687	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12043687G>T	ENST00000356352.2	-	5	2115	c.1642C>A	c.(1642-1644)Ctt>Att	p.L548I	UPF2_ENST00000397053.2_Missense_Mutation_p.L548I|UPF2_ENST00000357604.5_Missense_Mutation_p.L548I			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	548					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L548I(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTTCATCAAGAAGTTTCTTT	0.333																																					p.L548I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1642A	10						.						114.0	108.0	110.0					10																	12043687		2202	4300	6502	12083693	SO:0001583	missense	26019	exon6			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1642C>A	10.37:g.12043687G>T	ENSP00000348708:p.Leu548Ile		12083693	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615494	0.46631	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.45668	0.89;0.89;0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.44542	1.39	0.58432	D	0.999998	D;B	0.56035	0.974;0.068	D;B	0.67725	0.953;0.031	T	0.44143	-0.9347	10	0.37606	T	0.19	.	12.7855	0.57502	0.0759:0.0:0.9241:0.0	.	518;548	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	I	548;548;518;548;518	ENSP00000348708:L548I;ENSP00000350221:L548I;ENSP00000380244:L548I	ENSP00000313617:L518I	L	-	1	0	UPF2	12083693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.861000	0.69553	2.775000	0.95449	0.655000	0.94253	CTT		0.333	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
EIF3A	8661	broad.mit.edu	37	10	120810097	120810097	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:120810097C>T	ENST00000369144.3	-	16	2536	c.2409G>A	c.(2407-2409)agG>agA	p.R803R	EIF3A_ENST00000541549.1_Silent_p.R769R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R803R(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGTATGTTATCCTGCGTTCTT	0.418																																					p.R803R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2409A	10						.						504.0	439.0	461.0					10																	120810097		2203	4300	6503	120800087	SO:0001819	synonymous_variant	8661	exon16			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2409G>A	10.37:g.120810097C>T			120800087	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	CCDS7608.1																																																																																				0.418	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
FAM45A	404636	broad.mit.edu	37	10	120896004	120896004	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:120896004G>A	ENST00000361432.2	+	9	945	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.E156K	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	307								p.E307K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAAAACAAGAGAAATCTTTAC	0.353																																					p.E307K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G919A	10						.						67.0	71.0	70.0					10																	120896004		2201	4300	6501	120885994	SO:0001583	missense	404636	exon9			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.919G>A	10.37:g.120896004G>A	ENSP00000354688:p.Glu307Lys		120885994	NM_207009	B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077373	0.94000	.	.	ENSG00000119979	ENST00000361432;ENST00000544016	.	.	.	5.4	5.4	0.78164	.	0.099782	0.64402	D	0.000002	T	0.76955	0.4060	M	0.74258	2.255	0.80722	D	1	D;P;D;D	0.63880	0.964;0.883;0.993;0.989	B;B;P;P	0.59487	0.434;0.338;0.858;0.744	T	0.79045	-0.1964	9	0.66056	D	0.02	.	17.8895	0.88867	0.0:0.0:1.0:0.0	.	234;156;299;307	B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6	.;.;.;FA45A_HUMAN	K	307;156	.	ENSP00000354688:E307K	E	+	1	0	FAM45A	120885994	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.626000	0.90969	2.740000	0.93945	0.644000	0.83932	GAA		0.353	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009	
UPF2	26019	broad.mit.edu	37	10	12077380	12077380	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12077380C>A	ENST00000356352.2	-	1	516	c.43G>T	c.(43-45)Gac>Tac	p.D15Y	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000397053.2_Missense_Mutation_p.D15Y|UPF2_ENST00000357604.5_Missense_Mutation_p.D15Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	15	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D15Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTAAAGAGTCTTTTTCTTCC	0.453																																					p.D15Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43T	10						.						163.0	150.0	154.0					10																	12077380		2203	4300	6503	12117386	SO:0001583	missense	26019	exon2			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.43G>T	10.37:g.12077380C>A	ENSP00000348708:p.Asp15Tyr		12117386	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698286	0.68386	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.13657	2.57;2.57;2.57	5.78	5.78	0.91487	.	0.296342	0.36778	N	0.002404	T	0.14874	0.0359	N	0.19112	0.55	0.43476	D	0.995691	B	0.31790	0.34	B	0.37091	0.241	T	0.07829	-1.0752	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	15	Q9HAU5	RENT2_HUMAN	Y	15	ENSP00000348708:D15Y;ENSP00000350221:D15Y;ENSP00000380244:D15Y	ENSP00000313617:D15Y	D	-	1	0	UPF2	12117386	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.305000	0.65750	2.894000	0.99253	0.591000	0.81541	GAC		0.453	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
GRK5	2869	broad.mit.edu	37	10	121140355	121140355	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:121140355G>A	ENST00000392870.2	+	3	506	c.177G>A	c.(175-177)aaG>aaA	p.K59K	GRK5_ENST00000369108.3_5'UTR|MIR4681_ENST00000580598.1_RNA	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	59	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.K59K(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TATGTGACAAGCAGCCAATCG	0.517																																					p.K59K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G177A	10						.						105.0	106.0	105.0					10																	121140355		2203	4300	6503	121130345	SO:0001819	synonymous_variant	2869	exon3			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.177G>A	10.37:g.121140355G>A			121130345	NM_005308	D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	CCDS7612.1																																																																																				0.517	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308	
GRK5	2869	broad.mit.edu	37	10	121203196	121203196	+	Missense_Mutation	SNP	C	C	T	rs147170538		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:121203196C>T	ENST00000392870.2	+	12	1527	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	GRK5_ENST00000369108.3_Missense_Mutation_p.R295W	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.R400W(1)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGTGGACCGCCGGGTCCTGGA	0.627																																					p.R400W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1198T	10						.	C	TRP/ARG	0,4406		0,0,2203	42.0	44.0	43.0		1198	2.9	1.0	10	dbSNP_134	43	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRK5	NM_005308.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	400/591	121203196	1,13005	2203	4300	6503	121193186	SO:0001583	missense	2869	exon12			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1198C>T	10.37:g.121203196C>T	ENSP00000376609:p.Arg400Trp		121193186	NM_005308	D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	c	19.33	3.807762	0.70797	0.0	1.16E-4	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.53640	0.61;0.61	5.0	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000026	T	0.65811	0.2727	M	0.76838	2.35	0.58432	D	0.999993	D;D	0.89917	0.999;1.0	D;D	0.68353	0.957;0.947	T	0.70673	-0.4807	10	0.87932	D	0	-2.8538	12.1264	0.53919	0.4389:0.5611:0.0:0.0	.	400;400	B2R7K0;P34947	.;GRK5_HUMAN	W	400;295	ENSP00000376609:R400W;ENSP00000358104:R295W	ENSP00000358104:R295W	R	+	1	2	GRK5	121193186	0.564000	0.26602	1.000000	0.80357	0.997000	0.91878	-0.055000	0.11807	1.057000	0.40506	0.561000	0.74099	CGG		0.627	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308	
INPP5F	22876	broad.mit.edu	37	10	121551679	121551679	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:121551679G>A	ENST00000361976.2	+	6	789	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	INPP5F_ENST00000369081.1_3'UTR|INPP5F_ENST00000369083.3_Missense_Mutation_p.R208Q	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R208Q(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTTGATGACCGATTTTTTTGG	0.353																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	10						.						119.0	121.0	120.0					10																	121551679		2203	4300	6503	121541669	SO:0001583	missense	22876	exon6			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.623G>A	10.37:g.121551679G>A	ENSP00000354519:p.Arg208Gln		121541669	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153604	0.78114	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.59906	0.23;0.23	5.43	5.43	0.79202	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.75777	2.31	0.80722	D	1	B	0.31351	0.32	B	0.34138	0.176	T	0.65647	-0.6117	10	0.56958	D	0.05	-14.7163	19.5966	0.95541	0.0:0.0:1.0:0.0	.	208	Q9Y2H2	SAC2_HUMAN	Q	208	ENSP00000354519:R208Q;ENSP00000358079:R208Q	ENSP00000354519:R208Q	R	+	2	0	INPP5F	121541669	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.534000	0.90620	2.698000	0.92095	0.655000	0.94253	CGA		0.353	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
INPP5F	22876	broad.mit.edu	37	10	121569697	121569697	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:121569697G>A	ENST00000361976.2	+	14	1821	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R552Q(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TACCTCAACCGATTTAAGGAT	0.368																																					p.R552Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655A	10						.						132.0	112.0	119.0					10																	121569697		2203	4300	6503	121559687	SO:0001583	missense	22876	exon14			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1655G>A	10.37:g.121569697G>A	ENSP00000354519:p.Arg552Gln		121559687	NM_014937	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520969	0.64747	.	.	ENSG00000198825	ENST00000361976	T	0.28895	1.59	5.04	4.14	0.48551	.	0.064477	0.64402	N	0.000005	T	0.29389	0.0732	L	0.52364	1.645	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.05683	-1.0870	10	0.41790	T	0.15	-6.9188	13.2338	0.59958	0.0762:0.0:0.9238:0.0	.	552	Q9Y2H2	SAC2_HUMAN	Q	552	ENSP00000354519:R552Q	ENSP00000354519:R552Q	R	+	2	0	INPP5F	121559687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.635000	0.74295	1.136000	0.42199	0.561000	0.74099	CGA		0.368	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937	
DHTKD1	55526	broad.mit.edu	37	10	12136141	12136141	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12136141G>A	ENST00000263035.4	+	7	1291	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	410					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R410Q(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTGCCACACGACTGGCTTTT	0.527																																					p.R410Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1229A	10						.						179.0	144.0	155.0					10																	12136141		2203	4300	6503	12176147	SO:0001583	missense	55526	exon7			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1229G>A	10.37:g.12136141G>A	ENSP00000263035:p.Arg410Gln		12176147	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359676	0.41801	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	D;D	0.95885	-3.84;-3.84	4.59	1.22	0.21188	Dehydrogenase, E1 component (1);	0.190701	0.47455	N	0.000236	D	0.90854	0.7127	L	0.31120	0.905	0.58432	D	0.999998	B	0.18741	0.03	B	0.29942	0.109	T	0.82212	-0.0569	10	0.42905	T	0.14	-2.108	9.2773	0.37707	0.2649:0.0:0.7351:0.0	.	410	Q96HY7	DHTK1_HUMAN	Q	410;108	ENSP00000263035:R410Q;ENSP00000400625:R108Q	ENSP00000263035:R410Q	R	+	2	0	DHTKD1	12176147	1.000000	0.71417	0.255000	0.24374	0.969000	0.65631	4.244000	0.58728	-0.054000	0.13266	0.491000	0.48974	CGA		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
DHTKD1	55526	broad.mit.edu	37	10	12149995	12149995	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12149995G>A	ENST00000263035.4	+	12	2197	c.2135G>A	c.(2134-2136)cGa>cAa	p.R712Q		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	712					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R712Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCATCCTGTCGAATAGAGCGT	0.527																																					p.R712Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2135A	10						.						138.0	111.0	120.0					10																	12149995		2203	4300	6503	12190001	SO:0001583	missense	55526	exon12			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2135G>A	10.37:g.12149995G>A	ENSP00000263035:p.Arg712Gln		12190001	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707953	0.68615	.	.	ENSG00000181192	ENST00000263035;ENST00000448829	D	0.92397	-3.03	5.61	4.71	0.59529	Transketolase-like, pyrimidine-binding domain (2);	0.256366	0.39210	N	0.001421	D	0.97399	0.9149	H	0.98370	4.215	0.46167	D	0.998903	D	0.62365	0.991	D	0.66351	0.943	D	0.98041	1.0382	10	0.87932	D	0	-6.7202	12.6193	0.56594	0.0765:0.0:0.9235:0.0	.	712	Q96HY7	DHTK1_HUMAN	Q	712;213	ENSP00000263035:R712Q	ENSP00000263035:R712Q	R	+	2	0	DHTKD1	12190001	1.000000	0.71417	0.597000	0.28824	0.465000	0.32709	7.010000	0.76353	1.384000	0.46424	0.456000	0.33151	CGA		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
SEC23IP	11196	broad.mit.edu	37	10	121689932	121689932	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:121689932G>T	ENST00000369075.3	+	15	2633	c.2561G>T	c.(2560-2562)aGa>aTa	p.R854I	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R643I|SEC23IP_ENST00000475542.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	854	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R854I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGCAGAAAAAGACTTCATTTA	0.313																																					p.R854I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2561T	10						.						53.0	55.0	55.0					10																	121689932		2202	4294	6496	121679922	SO:0001583	missense	11196	exon15			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2561G>T	10.37:g.121689932G>T	ENSP00000358071:p.Arg854Ile		121679922	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926597	0.92319	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.38077	1.16;1.22	5.52	5.52	0.82312	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.74450	-0.3661	10	0.51188	T	0.08	-25.6438	19.7923	0.96464	0.0:0.0:1.0:0.0	.	643;854	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	I	854;643	ENSP00000358071:R854I;ENSP00000438773:R643I	ENSP00000358071:R854I	R	+	2	0	SEC23IP	121679922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.468000	0.97676	2.765000	0.95021	0.591000	0.81541	AGA		0.313	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
WDR11	55717	broad.mit.edu	37	10	122648616	122648616	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:122648616C>T	ENST00000263461.6	+	17	2394	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I716I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACCTGCATCGCTTGGAAAG	0.323																																					p.I716I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2148T	10						.						138.0	142.0	141.0					10																	122648616		2203	4300	6503	122638606	SO:0001819	synonymous_variant	55717	exon17			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2148C>T	10.37:g.122648616C>T			122638606	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	CCDS7619.1																																																																																				0.323	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
WDR11	55717	broad.mit.edu	37	10	122668211	122668211	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:122668211C>T	ENST00000263461.6	+	29	3907	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.P1221S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAGGAAGAACCCATTGAAGA	0.522																																					p.P1221S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3661T	10						.						90.0	92.0	91.0					10																	122668211		2203	4300	6503	122658201	SO:0001583	missense	55717	exon29			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3661C>T	10.37:g.122668211C>T	ENSP00000263461:p.Pro1221Ser		122658201	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360633	0.11296	.	.	ENSG00000120008	ENST00000263461	D	0.89485	-2.52	5.4	-7.65	0.01281	.	3.664390	0.00628	N	0.000465	T	0.70098	0.3185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67329	-0.5698	10	0.07813	T	0.8	17.7967	3.7361	0.08511	0.3251:0.125:0.4171:0.1329	.	1221	Q9BZH6	WDR11_HUMAN	S	1221	ENSP00000263461:P1221S	ENSP00000263461:P1221S	P	+	1	0	WDR11	122658201	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.047000	0.11963	-1.010000	0.03396	-0.311000	0.09066	CCC		0.522	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
FGFR2	2263	broad.mit.edu	37	10	123239508	123239508	+	Missense_Mutation	SNP	C	C	T	rs374993905		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123239508C>T	ENST00000358487.5	-	18	2601	c.2329G>A	c.(2329-2331)Gaa>Aaa	p.E777K	FGFR2_ENST00000457416.2_Missense_Mutation_p.E778K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E665K|FGFR2_ENST00000369060.4_Missense_Mutation_p.E661K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E660K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E663K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E775K|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.E549K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	777					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.E777K(1)|p.E778*(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GAATACTGTTCGAGAGGTTGG	0.453		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.E662K			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G1984A	10						.	C	LYS/GLU,LYS/GLU,,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	174.0	160.0	165.0		2329,1993,,1984,1981,1978,2332	5.8	1.0	10		165	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_022970.3	56,56,,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,probably-damaging,probably-damaging	777/822,665/710,,662/707,661/706,660/705,778/823	123239508	1,13005	2203	4300	6503	123229498	SO:0001583	missense	2263	exon15	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2329G>A	10.37:g.123239508C>T	ENSP00000351276:p.Glu777Lys		123229498	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921835	0.92319	0.0	1.16E-4	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.992;1.0	P;D;D;P;D	0.91635	0.906;0.988;0.999;0.656;0.999	D	0.92360	0.5896	10	0.51188	T	0.08	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	794;776;660;777;680	D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.;.;.;FGFR2_HUMAN;.	K	778;665;777;660;661;663;775;778	ENSP00000358057:E665K;ENSP00000351276:E777K;ENSP00000348559:E660K;ENSP00000358056:E661K;ENSP00000358055:E663K;ENSP00000263451:E775K;ENSP00000410294:E778K	ENSP00000263451:E775K	E	-	1	0	FGFR2	123229498	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.624000	0.83124	2.756000	0.94617	0.561000	0.74099	GAA		0.453	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
FGFR2	2263	broad.mit.edu	37	10	123246935	123246935	+	Missense_Mutation	SNP	G	G	A	rs113014479		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123246935G>A	ENST00000358487.5	-	15	2262	c.1990C>T	c.(1990-1992)Cgg>Tgg	p.R664W	FGFR2_ENST00000457416.2_Missense_Mutation_p.R665W|FGFR2_ENST00000369061.4_Missense_Mutation_p.R552W|FGFR2_ENST00000351936.6_Missense_Mutation_p.R662W|FGFR2_ENST00000360144.3_Missense_Mutation_p.R576W|FGFR2_ENST00000369060.4_Missense_Mutation_p.R548W|FGFR2_ENST00000356226.4_Missense_Mutation_p.R547W|FGFR2_ENST00000369059.1_Missense_Mutation_p.R550W|FGFR2_ENST00000346997.2_Missense_Mutation_p.R662W|FGFR2_ENST00000357555.5_Missense_Mutation_p.R575W|FGFR2_ENST00000478859.1_Missense_Mutation_p.R436W|FGFR2_ENST00000369056.1_Missense_Mutation_p.R665W	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	664	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R664W(1)|p.R575W(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ACTGGAAGCCGCCCCTGCAAA	0.408		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.R549W			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1645T	10						.						42.0	46.0	44.0					10																	123246935		2203	4300	6503	123236925	SO:0001583	missense	2263	exon12	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1990C>T	10.37:g.123246935G>A	ENSP00000351276:p.Arg664Trp		123236925	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007776	0.75046	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.982;0.968;0.998;0.986;0.992;0.991;0.986;0.995	D	0.96810	0.9596	10	0.87932	D	0	.	18.6972	0.91605	0.0:0.0:1.0:0.0	.	681;663;575;547;664;576;665;567	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	W	575;665;552;664;547;548;550;256;662;665;662;576;665;665;573	ENSP00000350166:R575W;ENSP00000358057:R552W;ENSP00000351276:R664W;ENSP00000348559:R547W;ENSP00000358056:R548W;ENSP00000358055:R550W;ENSP00000404219:R256W;ENSP00000263451:R662W;ENSP00000410294:R665W;ENSP00000309878:R662W;ENSP00000353262:R576W;ENSP00000358052:R665W;ENSP00000358054:R665W;ENSP00000337665:R573W	ENSP00000337665:R573W	R	-	1	2	FGFR2	123236925	1.000000	0.71417	0.946000	0.38457	0.398000	0.30690	9.540000	0.98080	2.572000	0.86782	0.655000	0.94253	CGG		0.408	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
FGFR2	2263	broad.mit.edu	37	10	123258030	123258030	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123258030G>T	ENST00000358487.5	-	12	1923	c.1651C>A	c.(1651-1653)Ctt>Att	p.L551I	FGFR2_ENST00000457416.2_Missense_Mutation_p.L552I|FGFR2_ENST00000369061.4_Missense_Mutation_p.L439I|FGFR2_ENST00000351936.6_Missense_Mutation_p.L549I|FGFR2_ENST00000360144.3_Missense_Mutation_p.L463I|FGFR2_ENST00000369060.4_Missense_Mutation_p.L435I|FGFR2_ENST00000356226.4_Missense_Mutation_p.L434I|FGFR2_ENST00000369059.1_Missense_Mutation_p.L437I|FGFR2_ENST00000346997.2_Missense_Mutation_p.L549I|FGFR2_ENST00000357555.5_Missense_Mutation_p.L462I|FGFR2_ENST00000478859.1_Missense_Mutation_p.L323I|FGFR2_ENST00000369056.1_Missense_Mutation_p.L552I	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.L462I(1)|p.L551I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CAGGCTCCAAGAAGATTTATG	0.423		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.L436I			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1306A	10						.						166.0	148.0	154.0					10																	123258030		2203	4300	6503	123248020	SO:0001583	missense	2263	exon9	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1651C>A	10.37:g.123258030G>T	ENSP00000351276:p.Leu551Ile		123248020	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265035	0.80358	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92554	0.7635	N	0.17474	0.49	0.80722	D	1	B;P;D;D;D;D;D;D	0.59767	0.367;0.842;0.972;0.962;0.969;0.961;0.986;0.97	P;P;D;P;D;D;P;D	0.72075	0.71;0.708;0.976;0.855;0.911;0.935;0.855;0.945	D	0.94078	0.7341	10	0.62326	D	0.03	.	18.3256	0.90252	0.0:0.0:1.0:0.0	.	568;550;462;434;551;463;552;454	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	I	462;552;439;551;434;435;437;143;549;552;549;463;552;552;460	ENSP00000350166:L462I;ENSP00000358057:L439I;ENSP00000351276:L551I;ENSP00000348559:L434I;ENSP00000358056:L435I;ENSP00000358055:L437I;ENSP00000404219:L143I;ENSP00000263451:L549I;ENSP00000410294:L552I;ENSP00000309878:L549I;ENSP00000353262:L463I;ENSP00000358052:L552I;ENSP00000358054:L552I;ENSP00000337665:L460I	ENSP00000337665:L460I	L	-	1	0	FGFR2	123248020	0.998000	0.40836	0.960000	0.40013	0.997000	0.91878	2.698000	0.47068	2.323000	0.78572	0.591000	0.81541	CTT		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
CDC123	8872	broad.mit.edu	37	10	12292314	12292314	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12292314G>T	ENST00000281141.4	+	13	1269	c.989G>T	c.(988-990)aGa>aTa	p.R330I	RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000378900.2_Missense_Mutation_p.R289I	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	330					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)		p.R330I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TGACAGAAGAGAAATCAGCAG	0.527																																					p.R330I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989T	10						.						71.0	72.0	72.0					10																	12292314		2203	4300	6503	12332320	SO:0001583	missense	8872	exon13			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.989G>T	10.37:g.12292314G>T	ENSP00000281141:p.Arg330Ile		12332320	NM_006023	A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	ENST00000281141.4	37	CCDS7090.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.13|16.13|16.13	3.036132|3.036132|3.036132	0.54896|0.54896|0.54896	.|.|.	.|.|.	ENSG00000151465|ENSG00000151465|ENSG00000151465	ENST00000455773|ENST00000440613|ENST00000281141;ENST00000378900	.|.|.	.|.|.	.|.|.	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|.	.|.|0.548830	.|.|0.18272	.|.|N	.|.|0.146282	.|T|T	.|0.44912|0.44912	.|0.1316|0.1316	N|N|N	0.16478|0.16478|0.16478	0.41|0.41|0.41	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B	.|.|0.30763	.|.|0.294	.|.|B	.|.|0.30251	.|.|0.113	.|T|T	.|0.36261|0.36261	.|-0.9755|-0.9755	.|5|9	.|.|0.36615	.|.|T	.|.|0.2	.|-4.1354|-4.1354	17.2153|17.2153|17.2153	0.86941|0.86941|0.86941	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|330	.|.|O75794	.|.|CD123_HUMAN	.|D|I	-1|137|330;289	.|.|.	.|.|ENSP00000281141:R330I	.|E|R	+|+|+	.|3|2	.|2|0	CDC123|CDC123|CDC123	12332320|12332320|12332320	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.559000|0.559000|0.559000	0.35586|0.35586|0.35586	5.328000|5.328000|5.328000	0.65887|0.65887|0.65887	2.793000|2.793000|2.793000	0.96121|0.96121|0.96121	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|GAG|AGA		0.527	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023	
FGFR2	2263	broad.mit.edu	37	10	123298225	123298225	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123298225C>T	ENST00000358487.5	-	6	901	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	FGFR2_ENST00000457416.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Missense_Mutation_p.R210Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R121Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R210Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R95Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R95Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R210Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R121Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R210Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	210	Ig-like C2-type 2.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R121Q(1)|p.R210Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTGCTGGTTTCGTACCTGAAA	0.423		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.R95Q			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G284A	10						.						140.0	122.0	128.0					10																	123298225		2203	4300	6503	123288215	SO:0001583	missense	2263	exon3	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.629G>A	10.37:g.123298225C>T	ENSP00000351276:p.Arg210Gln		123288215	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.866600	0.97043	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.957;0.989;0.978;0.975;0.986;0.994;0.978;1.0;1.0;0.999;0.955;0.999	T	0.79654	-0.1713	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	229;229;95;210;229;210;121;95;210;229;121;210	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	Q	121;210;210;210;95;210;95;210;210;210;121;210;210;121;210	ENSP00000350166:R121Q;ENSP00000358057:R210Q;ENSP00000351276:R210Q;ENSP00000348559:R95Q;ENSP00000358056:R210Q;ENSP00000358055:R95Q;ENSP00000263451:R210Q;ENSP00000410294:R210Q;ENSP00000309878:R210Q;ENSP00000353262:R121Q;ENSP00000358052:R210Q;ENSP00000358054:R210Q;ENSP00000337665:R121Q;ENSP00000352309:R210Q	ENSP00000337665:R121Q	R	-	2	0	FGFR2	123288215	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.730000	0.84881	2.941000	0.99782	0.655000	0.94253	CGA		0.423	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
ATE1	11101	broad.mit.edu	37	10	123596331	123596331	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123596331C>T	ENST00000224652.6	-	10	1244	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	ATE1_ENST00000369040.3_Splice_Site_p.E291K|ATE1_ENST00000543447.1_Splice_Site_p.E272K|ATE1_ENST00000540606.1_Splice_Site_p.E380K|ATE1_ENST00000535655.1_Splice_Site_p.E88K|ATE1_ENST00000369043.3_Splice_Site_p.E387K	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	387					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.E387K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAAGCAATTTCTCTGCGAAAA	0.323																																					p.E387K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159A	10						.						40.0	44.0	42.0					10																	123596331		2187	4293	6480	123586321	SO:0001630	splice_region_variant	11101	exon10			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1158-1G>A	10.37:g.123596331C>T			123586321	NM_001001976	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765045|4.765045	0.90020|0.90020	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447|ENST00000423243	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Acyl-CoA N-acyltransferase (1);Arginine-tRNA-protein transferase, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88455|0.88455	0.6441|0.6441	H|H	0.96301|0.96301	3.8|3.8	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.67145|.	0.996;0.973;0.987;0.996|.	D;P;P;D|.	0.72075|.	0.965;0.85;0.889;0.976|.	D|D	0.91551|0.91551	0.5257|0.5257	9|5	0.72032|.	D|.	0.01|.	-22.4363|-22.4363	19.7537|19.7537	0.96281|0.96281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	380;291;387;387|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	K|K	387;88;387;291;380;272|383	.|.	ENSP00000224652:E387K|.	E|R	-|-	1|2	0|0	ATE1|ATE1	123586321|123586321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.762000|7.762000	0.85270|0.85270	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.323	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Missense_Mutation
TACC2	10579	broad.mit.edu	37	10	123844606	123844606	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123844606G>A	ENST00000369005.1	+	4	2931	c.2591G>A	c.(2590-2592)gGt>gAt	p.G864D	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G864D|TACC2_ENST00000515603.1_Missense_Mutation_p.G864D|TACC2_ENST00000334433.3_Missense_Mutation_p.G864D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.G864D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	864					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.G864D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCCATCCAGGTTTTAAGGAC	0.522																																					p.G864D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2591A	10						.						107.0	110.0	109.0					10																	123844606		2203	4300	6503	123834596	SO:0001583	missense	10579	exon4			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2591G>A	10.37:g.123844606G>A	ENSP00000358001:p.Gly864Asp		123834596	NM_206862	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281597	0.23392	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.25414	2.0;1.8;1.83;2.0;1.8	4.99	2.09	0.27110	.	0.000000	0.37623	N	0.002017	T	0.14830	0.0358	N	0.20986	0.625	0.09310	N	1	B;B;B	0.22080	0.064;0.064;0.023	B;B;B	0.21151	0.033;0.019;0.019	T	0.17048	-1.0382	10	0.46703	T	0.11	-2.6565	6.4647	0.21975	0.4101:0.0:0.5899:0.0	.	864;864;864	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	D	864;864;864;864;864;854	ENSP00000358001:G864D;ENSP00000424467:G864D;ENSP00000427618:G864D;ENSP00000334280:G864D;ENSP00000395048:G864D	ENSP00000334280:G864D	G	+	2	0	TACC2	123834596	0.260000	0.24053	0.003000	0.11579	0.002000	0.02628	0.701000	0.25616	0.260000	0.21731	0.549000	0.68633	GGT		0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
TACC2	10579	broad.mit.edu	37	10	123892137	123892137	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:123892137G>T	ENST00000369005.1	+	6	5927	c.5587G>T	c.(5587-5589)Gat>Tat	p.D1863Y	TACC2_ENST00000358010.1_Missense_Mutation_p.D54Y|TACC2_ENST00000453444.2_Missense_Mutation_p.D1912Y|TACC2_ENST00000515603.1_Missense_Mutation_p.D1863Y|TACC2_ENST00000334433.3_Missense_Mutation_p.D1863Y|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.D54Y|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D1912Y|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1863					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D1863Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCTGTGGCAGATGATATCAT	0.498																																					p.D54Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160T	10						.						123.0	110.0	114.0					10																	123892137		2203	4300	6503	123882127	SO:0001583	missense	10579	exon4			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5587G>T	10.37:g.123892137G>T	ENSP00000358001:p.Asp1863Tyr		123882127	NM_206861	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749608	0.30955	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076	T;T;T;T;T;T;T	0.57107	0.42;0.42;3.65;3.88;0.42;0.42;3.65	3.1	1.17	0.20885	.	0.258368	0.20552	N	0.090099	T	0.53594	0.1806	L	0.29908	0.895	0.09310	N	1	D;D;P;D	0.89917	0.999;1.0;0.946;1.0	D;D;P;D	0.79784	0.993;0.96;0.648;0.96	T	0.37888	-0.9686	10	0.72032	D	0.01	-5.6909	5.4255	0.16423	0.2727:0.0:0.7273:0.0	.	1912;1863;54;1863	E9PBC6;E7EMZ9;O95359-5;O95359	.;.;.;TACC2_HUMAN	Y	1863;54;1912;1863;1863;54;1912;1853	ENSP00000358001:D1863Y;ENSP00000425062:D54Y;ENSP00000424467:D1912Y;ENSP00000427618:D1863Y;ENSP00000334280:D1863Y;ENSP00000350701:D54Y;ENSP00000395048:D1912Y	ENSP00000334280:D1863Y	D	+	1	0	TACC2	123882127	0.047000	0.20315	0.034000	0.17996	0.154000	0.21943	1.432000	0.34936	0.313000	0.23062	0.561000	0.74099	GAT		0.498	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
BTBD16	118663	broad.mit.edu	37	10	124049512	124049512	+	Splice_Site	SNP	C	C	T	rs367755013		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124049512C>T	ENST00000260723.4	+	6	725	c.474C>T	c.(472-474)gtC>gtT	p.V158V	BTBD16_ENST00000368994.2_Splice_Site_p.V159V	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	158	BTB.							p.V158V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TCACTAAAGTCGGTATGTATA	0.388													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16466	0.0		0.0	False		,,,				2504	0.0				p.V158V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T	10						.	T		1,4405	2.1+/-5.4	0,1,2202	110.0	113.0	112.0		474	-6.7	0.0	10		112	0,8600		0,0,4300	no	coding-synonymous-near-splice	BTBD16	NM_144587.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		158/507	124049512	1,13005	2203	4300	6503	124039502	SO:0001630	splice_region_variant	118663	exon6			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.475+1C>T	10.37:g.124049512C>T			124039502	NM_144587	A6NM63|Q4VXL1|Q96LN0	Silent	SNP	ENST00000260723.4	37	CCDS31301.1																																																																																				0.388	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	Silent
BTBD16	118663	broad.mit.edu	37	10	124066776	124066776	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124066776G>T	ENST00000260723.4	+	10	1115	c.864G>T	c.(862-864)aaG>aaT	p.K288N	BTBD16_ENST00000368994.2_Missense_Mutation_p.K289N	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	288								p.K288N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGAACTACAAGATTCAGGCAA	0.323																																					p.K288N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G864T	10						.						122.0	123.0	123.0					10																	124066776		2202	4300	6502	124056766	SO:0001583	missense	118663	exon10			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.864G>T	10.37:g.124066776G>T	ENSP00000260723:p.Lys288Asn		124056766	NM_144587	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	9.875	1.199949	0.22121	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19250	2.16;2.16	5.45	-3.6	0.04570	.	0.677910	0.14402	N	0.321801	T	0.11324	0.0276	L	0.46157	1.445	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.36456	-0.9747	10	0.16420	T	0.52	-3.1924	0.4963	0.00572	0.3047:0.1383:0.288:0.269	.	289;288	Q32M84-2;Q32M84	.;BTBDG_HUMAN	N	288;289	ENSP00000260723:K288N;ENSP00000357990:K289N	ENSP00000260723:K288N	K	+	3	2	BTBD16	124056766	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.495000	0.06443	-0.972000	0.03559	-0.302000	0.09304	AAG		0.323	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
BTBD16	118663	broad.mit.edu	37	10	124094418	124094418	+	Missense_Mutation	SNP	C	C	T	rs577596137		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124094418C>T	ENST00000260723.4	+	14	1438	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	BTBD16_ENST00000368994.2_Missense_Mutation_p.T397M|BTBD16_ENST00000495370.2_3'UTR	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	396								p.T396M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TATTCGAAAACGATTGCTCTA	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18797	0.0		0.0	False		,,,				2504	0.0				p.T396M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187T	10						.						116.0	115.0	115.0					10																	124094418		2202	4300	6502	124084408	SO:0001583	missense	118663	exon14			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1187C>T	10.37:g.124094418C>T	ENSP00000260723:p.Thr396Met		124084408	NM_144587	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	C	8.384	0.838292	0.16891	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18810	2.19;2.19	5.53	-10.7	0.00240	.	1.354520	0.04802	N	0.433645	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.26916	-1.0089	10	0.30078	T	0.28	-0.0024	11.6397	0.51224	0.0:0.5543:0.2107:0.235	.	397;396	Q32M84-2;Q32M84	.;BTBDG_HUMAN	M	396;397	ENSP00000260723:T396M;ENSP00000357990:T397M	ENSP00000260723:T396M	T	+	2	0	BTBD16	124084408	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.792000	0.01756	-2.218000	0.00730	-1.021000	0.02439	ACG		0.368	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587	
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	C	T	rs142005373		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124152833C>T	ENST00000368990.3	+	2	248	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLEKHA1_ENST00000538022.1_Silent_p.F39F|PLEKHA1_ENST00000433307.1_Silent_p.F39F|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368988.1_Silent_p.F39F|PLEKHA1_ENST00000368989.2_Silent_p.F39F	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	39	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.F39F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343																																					p.F39F												.	.	2	Substitution - coding silent(2)	urinary_tract(1)|large_intestine(1)	c.C117T	10						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	76.0	76.0		117,117,117	1.2	1.0	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLEKHA1	NM_001001974.2,NM_001195608.1,NM_021622.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	39/405,39/335,39/405	124152833	1,13005	2203	4300	6503	124142823	SO:0001819	synonymous_variant	59338	exon2			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.117C>T	10.37:g.124152833C>T			124142823	NM_001001974	B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	37	CCDS7629.1																																																																																				0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	
DMBT1	1755	broad.mit.edu	37	10	124384803	124384803	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124384803A>C	ENST00000338354.3	+	42	5338	c.5232A>C	c.(5230-5232)atA>atC	p.I1744I	DMBT1_ENST00000359586.6_Silent_p.I464I|DMBT1_ENST00000368955.3_Silent_p.I1734I|DMBT1_ENST00000344338.3_Silent_p.I1734I|DMBT1_ENST00000368909.3_Silent_p.I1744I|DMBT1_ENST00000368956.2_Silent_p.I1116I|DMBT1_ENST00000330163.4_Silent_p.I1116I			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1744					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.I1873I(1)|p.I1744I(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCAAATAAATTCTACTA	0.483																																					p.I1744I	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A5232C	10						.						91.0	86.0	87.0					10																	124384803		1967	4156	6123	124374793	SO:0001819	synonymous_variant	1755	exon42				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5232A>C	10.37:g.124384803A>C			124374793	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37																																																																																					0.483	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
C10orf120	399814	broad.mit.edu	37	10	124458004	124458004	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124458004G>A	ENST00000329446.4	-	3	284	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	85								p.R85C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCACCTAGACGCTGACAATGG	0.493																																					p.R85C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C253T	10						.						164.0	173.0	170.0					10																	124458004		2202	4299	6501	124447994	SO:0001630	splice_region_variant	399814	exon3				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.253-1C>T	10.37:g.124458004G>A			124447994	NM_001010912	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658356	0.47467	.	.	ENSG00000183559	ENST00000329446	T	0.35048	1.33	4.82	4.82	0.62117	.	0.549745	0.16755	N	0.200860	T	0.48960	0.1529	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.53593	0.73	T	0.51060	-0.8753	10	0.87932	D	0	-2.9125	13.6001	0.62013	0.0:0.0:1.0:0.0	.	85	Q5SQS8	CJ120_HUMAN	C	85	ENSP00000331012:R85C	ENSP00000331012:R85C	R	-	1	0	C10orf120	124447994	1.000000	0.71417	0.985000	0.45067	0.183000	0.23260	2.459000	0.45023	2.652000	0.90054	0.603000	0.83216	CGT		0.493	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912	Missense_Mutation
CUZD1	50624	broad.mit.edu	37	10	124593361	124593361	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124593361G>T	ENST00000368904.1	-	10	2427	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	CUZD1_ENST00000545804.1_Missense_Mutation_p.S493Y|CUZD1_ENST00000392790.1_Missense_Mutation_p.S493Y					CUB and zona pellucida-like domains 1									p.S493Y(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGATACACAGAGCTCATACT	0.408																																					p.S493Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1478A	10						.						114.0	105.0	108.0					10																	124593361		2203	4300	6503	124583351	SO:0001583	missense	50624	exon8			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1478C>A	10.37:g.124593361G>T	ENSP00000357900:p.Ser493Tyr		124583351	NM_022034		Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209217	0.58343	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.83591	-1.74;-1.74;-1.74	5.1	5.1	0.69264	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.192751	0.47093	D	0.000248	D	0.90058	0.6895	M	0.64997	1.995	0.45108	D	0.998125	D	0.89917	1.0	D	0.97110	1.0	D	0.90344	0.4361	10	0.56958	D	0.05	-21.1129	18.4878	0.90835	0.0:0.0:1.0:0.0	.	493	Q86UP6	CUZD1_HUMAN	Y	493;212;212;127;212;493;493	ENSP00000357900:S493Y;ENSP00000441590:S493Y;ENSP00000376540:S493Y	ENSP00000340905:S127Y	S	-	2	0	CUZD1	124583351	0.815000	0.29118	0.144000	0.22314	0.688000	0.40055	2.477000	0.45180	2.528000	0.85240	0.655000	0.94253	TCT		0.408	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
CUZD1	50624	broad.mit.edu	37	10	124596945	124596945	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124596945T>C	ENST00000368904.1	-	6	1523	c.574A>G	c.(574-576)Ata>Gta	p.I192V	CUZD1_ENST00000545804.1_Missense_Mutation_p.I192V|CUZD1_ENST00000392790.1_Missense_Mutation_p.I192V					CUB and zona pellucida-like domains 1									p.I192V(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTTAGTTTTATCTTGTAATCT	0.453																																					p.I192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A574G	10						.						114.0	108.0	110.0					10																	124596945		2203	4300	6503	124586935	SO:0001583	missense	50624	exon4			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.574A>G	10.37:g.124596945T>C	ENSP00000357900:p.Ile192Val		124586935	NM_022034		Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424874	0.43020	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.16743	2.32;2.32;2.32	4.75	4.75	0.60458	CUB (5);	0.053369	0.64402	D	0.000001	T	0.21921	0.0528	L	0.31926	0.97	0.36733	D	0.881811	P	0.46142	0.873	P	0.56960	0.81	T	0.02774	-1.1112	10	0.05833	T	0.94	-18.9164	13.9212	0.63933	0.0:0.0:0.0:1.0	.	192	Q86UP6	CUZD1_HUMAN	V	192	ENSP00000357900:I192V;ENSP00000441590:I192V;ENSP00000376540:I192V	ENSP00000357900:I192V	I	-	1	0	CUZD1	124586935	0.878000	0.30173	0.978000	0.43139	0.993000	0.82548	1.763000	0.38461	1.773000	0.52216	0.460000	0.39030	ATA		0.453	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
PSTK	118672	broad.mit.edu	37	10	124742803	124742803	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:124742803G>A	ENST00000368887.3	+	3	964	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.C175Y	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	175					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)	p.C175Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TTGGGCTTTTGCCAGCTCTTT	0.388																																					p.C175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524A	10						.						55.0	54.0	54.0					10																	124742803		2203	4300	6503	124732793	SO:0001583	missense	118672	exon3			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.524G>A	10.37:g.124742803G>A	ENSP00000357882:p.Cys175Tyr		124732793	NM_153336	Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635700|3.635700	0.67130|0.67130	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000406217|ENST00000368887;ENST00000405485	.|T;T	.|0.37058	.|1.22;1.22	5.86|5.86	4.96|4.96	0.65561|0.65561	.|.	.|0.094648	.|0.85682	.|D	.|0.000000	T|T	0.63248|0.63248	0.2495|0.2495	M|M	0.85859|0.85859	2.78|2.78	0.46874|0.46874	D|D	0.999238|0.999238	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.69057|0.69057	-0.5246|-0.5246	5|10	.|0.59425	.|D	.|0.04	-16.7884|-16.7884	13.6725|13.6725	0.62434|0.62434	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|175	.|Q8IV42	.|PSTK_HUMAN	T|Y	176|175	.|ENSP00000357882:C175Y;ENSP00000384764:C175Y	.|ENSP00000357882:C175Y	A|C	+|+	1|2	0|0	PSTK|PSTK	124732793|124732793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.838000|7.838000	0.86804|0.86804	1.485000|1.485000	0.48380|0.48380	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.388	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336	
CPXM2	119587	broad.mit.edu	37	10	125506367	125506367	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:125506367C>A	ENST00000241305.3	-	14	2338	c.2184G>T	c.(2182-2184)gaG>gaT	p.E728D	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	728					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E728D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCTCCATGATCTCTCGGATCC	0.582																																					p.E728D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2184T	10						.						106.0	100.0	102.0					10																	125506367		2203	4300	6503	125496357	SO:0001583	missense	119587	exon14			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2184G>T	10.37:g.125506367C>A	ENSP00000241305:p.Glu728Asp		125496357	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999039	0.74818	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.14144	2.53	5.24	1.24	0.21308	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	L	0.56769	1.78	0.80722	D	1	D	0.59767	0.986	P	0.60012	0.867	T	0.01059	-1.1465	10	0.56958	D	0.05	-3.3865	10.1438	0.42751	0.0:0.6497:0.0:0.3503	.	728	Q8N436	CPXM2_HUMAN	D	728;561;703	ENSP00000241305:E728D	ENSP00000241305:E728D	E	-	3	2	CPXM2	125496357	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	0.752000	0.26362	0.346000	0.23899	0.655000	0.94253	GAG		0.582	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CPXM2	119587	broad.mit.edu	37	10	125521394	125521394	+	Missense_Mutation	SNP	C	C	T	rs564623475		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:125521394C>T	ENST00000241305.3	-	11	1925	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	591					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A591T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTACTTCCAGCGACGGTGTGC	0.657																																					p.A591T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1771A	10						.						25.0	25.0	25.0					10																	125521394		2203	4300	6503	125511384	SO:0001583	missense	119587	exon11			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1771G>A	10.37:g.125521394C>T	ENSP00000241305:p.Ala591Thr		125511384	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432632	0.25813	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.11277	2.79	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.10760	0.04	0.52099	D	0.999948	P	0.39696	0.683	B	0.32805	0.153	T	0.49542	-0.8929	10	0.13853	T	0.58	-21.8858	19.2795	0.94046	0.0:1.0:0.0:0.0	.	591	Q8N436	CPXM2_HUMAN	T	87;591;424;566	ENSP00000241305:A591T	ENSP00000241305:A591T	A	-	1	0	CPXM2	125511384	1.000000	0.71417	0.306000	0.25113	0.082000	0.17680	5.913000	0.69957	2.790000	0.95986	0.609000	0.83330	GCT		0.657	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
CAMK1D	57118	broad.mit.edu	37	10	12595255	12595255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:12595255G>T	ENST00000378847.3	+	2	461	c.124G>T	c.(124-126)Gag>Tag	p.E42*	CAMK1D_ENST00000378845.1_Nonsense_Mutation_p.E42*|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.E42*(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTAGCTGAAGAGAAGGCAAC	0.473																																					p.E42X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G124T	10						.						162.0	152.0	156.0					10																	12595255		2203	4300	6503	12635261	SO:0001587	stop_gained	57118	exon2			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.124G>T	10.37:g.12595255G>T	ENSP00000368124:p.Glu42*		12635261	NM_020397	B0YIY0|Q9HD31	Nonsense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	37	6.414785	0.97546	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	.	.	.	5.14	5.14	0.70334	.	0.055898	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-25.4575	17.1858	0.86866	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000368122:E42X	E	+	1	0	CAMK1D	12635261	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.392000	0.97252	2.370000	0.80446	0.561000	0.74099	GAG		0.473	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
OAT	4942	broad.mit.edu	37	10	126089546	126089546	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:126089546T>C	ENST00000368845.5	-	9	1114	c.1022A>G	c.(1021-1023)gAa>gGa	p.E341G	OAT_ENST00000539214.1_Missense_Mutation_p.E203G|OAT_ENST00000467675.1_5'Flank	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	341					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)	p.E341G(1)		endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GTTTTCTTCTTCTAAAACCTA	0.348																																					p.E203G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A608G	10						.						61.0	57.0	58.0					10																	126089546		2203	4298	6501	126079536	SO:0001583	missense	4942	exon8			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.1022A>G	10.37:g.126089546T>C	ENSP00000357838:p.Glu341Gly		126079536	NM_001171814	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	ENST00000368845.5	37	CCDS7639.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584172	0.46110	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.87179	-2.22;-2.22	4.97	4.97	0.65823	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044348	0.85682	D	0.000000	D	0.88243	0.6384	M	0.87547	2.89	0.58432	D	0.999996	P	0.36354	0.549	B	0.34301	0.179	D	0.88397	0.3012	10	0.38643	T	0.18	-26.2705	15.3597	0.74460	0.0:0.0:0.0:1.0	.	341	P04181	OAT_HUMAN	G	203;341	ENSP00000439042:E203G;ENSP00000357838:E341G	ENSP00000357838:E341G	E	-	2	0	OAT	126079536	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.515000	0.81761	2.167000	0.68274	0.533000	0.62120	GAA		0.348	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274	
FAM175B	23172	broad.mit.edu	37	10	126495409	126495409	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:126495409T>G	ENST00000298492.5	+	2	127	c.82T>G	c.(82-84)Tta>Gta	p.L28V		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	28	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.L28V(1)		NS(1)	1						GGAAGGATTTTTACTGGGAGA	0.294																																					p.L28V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T82G	10						.						82.0	79.0	80.0					10																	126495409		1800	4069	5869	126485399	SO:0001583	missense	23172	exon2			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.82T>G	10.37:g.126495409T>G	ENSP00000298492:p.Leu28Val		126485399	NM_032182	B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526690	0.44969	.	.	ENSG00000165660	ENST00000298492	T	0.45668	0.89	5.41	1.81	0.25067	.	0.318404	0.26362	N	0.024809	T	0.59865	0.2225	M	0.78456	2.415	0.46356	D	0.999008	D	0.67145	0.996	D	0.80764	0.994	T	0.57952	-0.7722	10	0.87932	D	0	-1.0369	8.14	0.31078	0.0:0.3143:0.0:0.6857	.	28	Q15018	F175B_HUMAN	V	28	ENSP00000298492:L28V	ENSP00000298492:L28V	L	+	1	2	FAM175B	126485399	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.707000	0.37888	0.059000	0.16252	0.454000	0.30748	TTA		0.294	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182	
MMP21	118856	broad.mit.edu	37	10	127455418	127455418	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127455418G>A	ENST00000368808.3	-	7	1522	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	508					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S508F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GTAATAAGCGGAATCTATATT	0.353																																					p.S508F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	10						.						109.0	111.0	110.0					10																	127455418		2203	4300	6503	127445408	SO:0001583	missense	118856	exon7			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1523C>T	10.37:g.127455418G>A	ENSP00000357798:p.Ser508Phe		127445408	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141715	0.77775	.	.	ENSG00000154485	ENST00000368808	T	0.08896	3.04	5.95	5.95	0.96441	Hemopexin/matrixin (2);	0.301944	0.29307	N	0.012524	T	0.14830	0.0358	L	0.47716	1.5	0.42665	D	0.993491	P	0.51351	0.944	P	0.47206	0.541	T	0.00079	-1.2112	10	0.87932	D	0	-20.2644	17.8792	0.88835	0.0:0.0:1.0:0.0	.	508	Q8N119	MMP21_HUMAN	F	508	ENSP00000357798:S508F	ENSP00000357798:S508F	S	-	2	0	MMP21	127445408	0.970000	0.33590	0.008000	0.14137	0.046000	0.14306	6.466000	0.73543	2.825000	0.97269	0.655000	0.94253	TCC		0.353	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
MMP21	118856	broad.mit.edu	37	10	127459049	127459049	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127459049T>C	ENST00000368808.3	-	5	1090	c.1091A>G	c.(1090-1092)tAc>tGc	p.Y364C		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	364					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y364C(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	ATAAAGCCAGTACCAGCTGTT	0.443																																					p.Y364C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1091G	10						.						249.0	221.0	230.0					10																	127459049		2203	4300	6503	127449039	SO:0001583	missense	118856	exon5			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1091A>G	10.37:g.127459049T>C	ENSP00000357798:p.Tyr364Cys		127449039	NM_147191	Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299596	0.81136	.	.	ENSG00000154485	ENST00000368808	T	0.06768	3.26	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	L	0.61218	1.895	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.00531	-1.1686	10	0.87932	D	0	-16.5928	13.7643	0.62986	0.0:0.0:0.0:1.0	.	364	Q8N119	MMP21_HUMAN	C	364	ENSP00000357798:Y364C	ENSP00000357798:Y364C	Y	-	2	0	MMP21	127449039	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.837000	0.62796	2.143000	0.66587	0.533000	0.62120	TAC		0.443	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1		
DHX32	55760	broad.mit.edu	37	10	127529550	127529550	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127529550G>A	ENST00000284690.3	-	8	2049	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.S439L|AL360176.1_ENST00000401153.1_RNA|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.S144L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	520						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.S520L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGCACATGTGAAAAGCAATT	0.433																																					p.S520L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559T	10						.						85.0	73.0	77.0					10																	127529550		2203	4300	6503	127519540	SO:0001583	missense	55760	exon8				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1559C>T	10.37:g.127529550G>A	ENSP00000284690:p.Ser520Leu		127519540	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.656380	0.00779	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.02709	4.19;4.19;4.19	4.43	0.0928	0.14474	Helicase-associated domain (2);	0.896269	0.09603	N	0.779978	T	0.01222	0.0040	N	0.00972	-1.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46652	-0.9176	10	0.87932	D	0	-0.257	6.8598	0.24060	0.6305:0.0:0.3695:0.0	.	520	Q7L7V1	DHX32_HUMAN	L	144;520;439	ENSP00000357710:S144L;ENSP00000284690:S520L;ENSP00000284688:S439L	ENSP00000284688:S439L	S	-	2	0	DHX32	127519540	0.000000	0.05858	0.003000	0.11579	0.218000	0.24690	0.424000	0.21330	0.135000	0.18707	0.655000	0.94253	TCA		0.433	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
DHX32	55760	broad.mit.edu	37	10	127540946	127540946	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127540946C>A	ENST00000284690.3	-	6	1757	c.1267G>T	c.(1267-1269)Gaa>Taa	p.E423*	DHX32_ENST00000284688.6_Nonsense_Mutation_p.E342*|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E47*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	423						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E423*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGTTGGCTTCCTGCATTTCT	0.458																																					p.E423X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1267T	10						.						193.0	175.0	181.0					10																	127540946		2203	4300	6503	127530936	SO:0001587	stop_gained	55760	exon6				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1267G>T	10.37:g.127540946C>A	ENSP00000284690:p.Glu423*		127530936	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Nonsense_Mutation	SNP	ENST00000284690.3	37	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	C	43	9.994470	0.99313	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	.	.	.	5.72	5.72	0.89469	.	0.052972	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2267	18.885	0.92372	0.0:1.0:0.0:0.0	.	.	.	.	X	47;423;342	.	ENSP00000284688:E342X	E	-	1	0	DHX32	127530936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.740000	0.68629	2.691000	0.91804	0.655000	0.94253	GAA		0.458	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
DHX32	55760	broad.mit.edu	37	10	127555591	127555591	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127555591G>A	ENST00000284690.3	-	2	934	c.444C>T	c.(442-444)ttC>ttT	p.F148F	DHX32_ENST00000284688.6_Silent_p.F148F	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	148	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.F148F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGCAGTTCTCGAAAGGGATCA	0.517																																					p.F148F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	10						.						182.0	146.0	158.0					10																	127555591		2203	4300	6503	127545581	SO:0001819	synonymous_variant	55760	exon2				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.444C>T	10.37:g.127555591G>A			127545581	NM_018180	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Silent	SNP	ENST00000284690.3	37	CCDS7652.1																																																																																				0.517	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180	
FANK1	92565	broad.mit.edu	37	10	127677132	127677132	+	Silent	SNP	G	G	A	rs146192515		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127677132G>A	ENST00000368693.1	+	3	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_ENST00000368695.1_Silent_p.T62T|FANK1_ENST00000368689.1_Silent_p.T62T|FANK1_ENST00000449042.2_Silent_p.T62T			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	68	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T68T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512																																					p.T68T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G204A	10						.	G		0,4406		0,0,2203	254.0	232.0	239.0		204	-10.1	0.0	10	dbSNP_134	239	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FANK1	NM_145235.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		68/346	127677132	1,13005	2203	4300	6503	127667122	SO:0001819	synonymous_variant	92565	exon3			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.204G>A	10.37:g.127677132G>A			127667122	NM_145235	Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	CCDS31309.1																																																																																				0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
ADAM12	8038	broad.mit.edu	37	10	127760098	127760098	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:127760098C>T	ENST00000368679.4	-	12	1589	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ADAM12_ENST00000368676.4_Missense_Mutation_p.C427Y|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	427	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.C427Y(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TCTGTTCCCACACTTCTGGCC	0.532																																					p.C427Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1280A	10						.						99.0	98.0	99.0					10																	127760098		2203	4300	6503	127750088	SO:0001583	missense	8038	exon12			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1280G>A	10.37:g.127760098C>T	ENSP00000357668:p.Cys427Tyr		127750088	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482384	0.84747	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.43688	3.55;0.94	4.99	4.99	0.66335	Blood coagulation inhibitor, Disintegrin (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	H	0.98738	4.315	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	D	0.88492	0.3076	10	0.87932	D	0	.	18.4657	0.90753	0.0:1.0:0.0:0.0	.	424;424;427;424;427	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	Y	427	ENSP00000357668:C427Y;ENSP00000357665:C427Y	ENSP00000357665:C427Y	C	-	2	0	ADAM12	127750088	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.521000	0.81832	2.595000	0.87683	0.563000	0.77884	TGT		0.532	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
C10orf90	118611	broad.mit.edu	37	10	128114574	128114574	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128114574C>T	ENST00000284694.7	-	8	2167	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	C10orf90_ENST00000480379.1_Missense_Mutation_p.E87K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E586K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E636K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E780K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	683	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E683K(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTGAAGACTTCGGCACGGAGT	0.423																																					p.E683K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2047A	10						.						214.0	196.0	202.0					10																	128114574		2203	4300	6503	128104564	SO:0001583	missense	118611	exon8			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2047G>A	10.37:g.128114574C>T	ENSP00000284694:p.Glu683Lys		128104564	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960696	0.74016	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758	T;T;T	0.19105	2.17;2.23;2.18	5.58	2.71	0.32032	.	0.000000	0.45126	D	0.000382	T	0.25044	0.0608	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.65815	0.985;0.995;0.985	B;P;B	0.47603	0.412;0.551;0.412	T	0.02275	-1.1184	10	0.45353	T	0.12	-27.6394	8.489	0.33089	0.0:0.7603:0.0:0.2397	.	780;683;586	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	K	636;683;586;780	ENSP00000284694:E683K;ENSP00000398786:E586K;ENSP00000444369:E780K	ENSP00000284694:E683K	E	-	1	0	C10orf90	128104564	0.867000	0.29959	0.514000	0.27761	0.995000	0.86356	1.485000	0.35519	0.825000	0.34637	0.655000	0.94253	GAA		0.423	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128153272	128153272	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128153272G>A	ENST00000284694.7	-	4	1647	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Silent_p.F462F|C10orf90_ENST00000544758.1_Silent_p.F606F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	509					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.F509F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TACCTTTGGGGAACTTGCTTT	0.458																																					p.F509F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1527T	10						.						177.0	191.0	186.0					10																	128153272		2203	4300	6503	128143262	SO:0001819	synonymous_variant	118611	exon4			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1527C>T	10.37:g.128153272G>A			128143262	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1																																																																																				0.458	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128153524	128153524	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128153524C>A	ENST00000284694.7	-	4	1395	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.K378N|C10orf90_ENST00000544758.1_Missense_Mutation_p.K522N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	425					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K425N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTTGTTGCCTCTTGCTGCTTC	0.428																																					p.K425N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1275T	10						.						107.0	102.0	104.0					10																	128153524		2203	4300	6503	128143514	SO:0001583	missense	118611	exon4			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1275G>T	10.37:g.128153524C>A	ENSP00000284694:p.Lys425Asn		128143514	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820263	0.50633	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.21361	2.02;2.03;2.01	4.34	4.34	0.51931	.	0.593585	0.15124	N	0.279196	T	0.32704	0.0838	L	0.52573	1.65	0.80722	D	1	P;P	0.51351	0.944;0.728	P;B	0.52957	0.714;0.343	T	0.07158	-1.0787	10	0.87932	D	0	-8.5751	13.7114	0.62670	0.0:1.0:0.0:0.0	.	522;425	F5GZL2;Q96M02	.;CJ090_HUMAN	N	378;425;522;425	ENSP00000284694:K425N;ENSP00000444369:K522N;ENSP00000405995:K425N	ENSP00000284694:K425N	K	-	3	2	C10orf90	128143514	0.392000	0.25229	0.101000	0.21167	0.013000	0.08279	4.126000	0.57937	2.251000	0.74343	0.637000	0.83480	AAG		0.428	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
C10orf90	118611	broad.mit.edu	37	10	128193589	128193589	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128193589C>A	ENST00000284694.7	-	3	300	c.180G>T	c.(178-180)gaG>gaT	p.E60D	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.E13D|C10orf90_ENST00000454341.1_Missense_Mutation_p.E60D|C10orf90_ENST00000356858.3_Missense_Mutation_p.E13D|C10orf90_ENST00000544758.1_Missense_Mutation_p.E157D	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	60					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E60D(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTGACTTATTCTCATCAATCA	0.473																																					p.E60D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G180T	10						.						124.0	113.0	117.0					10																	128193589		2203	4300	6503	128183579	SO:0001583	missense	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.180G>T	10.37:g.128193589C>A	ENSP00000284694:p.Glu60Asp		128183579	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885268	0.33255	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.36340	1.57;1.53;1.64;1.57;1.26	4.76	0.998	0.19857	.	0.000000	0.56097	D	0.000032	T	0.48822	0.1521	M	0.65498	2.005	0.19575	N	0.999968	D;D;D;D;P	0.76494	0.999;0.999;0.999;0.999;0.946	D;D;D;D;P	0.72075	0.972;0.972;0.937;0.976;0.586	T	0.25363	-1.0134	10	0.46703	T	0.11	-24.0068	5.3078	0.15813	0.0:0.4572:0.1399:0.4029	.	157;157;13;60;60	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	D	13;60;60;157;60;13;13	ENSP00000284694:E60D;ENSP00000398786:E60D;ENSP00000444369:E157D;ENSP00000405995:E60D;ENSP00000376459:E13D	ENSP00000284694:E60D	E	-	3	2	C10orf90	128183579	0.029000	0.19370	0.402000	0.26371	0.058000	0.15608	-0.053000	0.11846	0.310000	0.22990	0.561000	0.74099	GAG		0.473	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
DOCK1	1793	broad.mit.edu	37	10	128836003	128836003	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128836003A>G	ENST00000280333.6	+	19	1979	c.1870A>G	c.(1870-1872)Aaa>Gaa	p.K624E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	624					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.K624E(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGGGCTCTTGAAATGGCGCTC	0.473																																					p.K624E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1870G	10						.						52.0	49.0	50.0					10																	128836003		1875	4109	5984	128725993	SO:0001583	missense	1793	exon19			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1870A>G	10.37:g.128836003A>G	ENSP00000280333:p.Lys624Glu		128725993	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	A	18.79	3.699147	0.68501	.	.	ENSG00000150760	ENST00000280333	T	0.20200	2.09	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.83312	2.635	0.58432	D	0.999997	B;B	0.33883	0.266;0.43	B;B	0.38194	0.267;0.207	T	0.32508	-0.9904	10	0.66056	D	0.02	.	14.4146	0.67139	1.0:0.0:0.0:0.0	.	624;624	B2RUU3;Q14185	.;DOCK1_HUMAN	E	624	ENSP00000280333:K624E	ENSP00000280333:K624E	K	+	1	0	DOCK1	128725993	1.000000	0.71417	0.979000	0.43373	0.908000	0.53690	8.841000	0.92131	1.990000	0.58119	0.379000	0.24179	AAA		0.473	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
DOCK1	1793	broad.mit.edu	37	10	128908585	128908585	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128908585G>A	ENST00000280333.6	+	25	2636	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	843					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E843K(2)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTGCTTGATCGAAATCGTCCA	0.418																																					p.E843K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2527A	10						.						86.0	81.0	82.0					10																	128908585		1924	4148	6072	128798575	SO:0001583	missense	1793	exon25			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2527G>A	10.37:g.128908585G>A	ENSP00000280333:p.Glu843Lys		128798575	NM_001380	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	11.48	1.650665	0.29336	.	.	ENSG00000150760	ENST00000280333	T	0.29655	1.56	4.87	4.87	0.63330	.	0.062753	0.64402	D	0.000008	T	0.12008	0.0292	N	0.01168	-0.975	0.58432	D	0.999991	B;B	0.18461	0.006;0.028	B;B	0.14023	0.01;0.01	T	0.18147	-1.0346	10	0.16420	T	0.52	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	843;843	B2RUU3;Q14185	.;DOCK1_HUMAN	K	843	ENSP00000280333:E843K	ENSP00000280333:E843K	E	+	1	0	DOCK1	128798575	1.000000	0.71417	0.954000	0.39281	0.512000	0.34134	8.448000	0.90335	2.533000	0.85409	0.655000	0.94253	GAA		0.418	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
FAM196A	642938	broad.mit.edu	37	10	128973613	128973613	+	Silent	SNP	G	G	A	rs184333971	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:128973613G>A	ENST00000522781.1	-	4	1602	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	349								p.I349I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGAGGCACGATTCGTTGGC	0.552													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18634	0.0		0.002	False		,,,				2504	0.0				p.I349I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	10						.						146.0	152.0	150.0					10																	128973613		2203	4300	6503	128863603	SO:0001819	synonymous_variant	642938	exon4				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1047C>T	10.37:g.128973613G>A			128863603	NM_001039762	B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	CCDS31312.1																																																																																				0.552	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762	
DOCK1	1793	broad.mit.edu	37	10	129242446	129242446	+	Silent	SNP	C	C	T	rs143736792	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129242446C>T	ENST00000280333.6	+	50	5362	c.5253C>T	c.(5251-5253)agC>agT	p.S1751S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1751					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1751S(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCATTGGAAGCGAAAGGCGCT	0.557													C|||	14	0.00279553	0.0083	0.0029	5008	,	,		17679	0.0		0.0	False		,,,				2504	0.001				p.S1751S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5253T	10						.	C		51,3997		0,51,1973	87.0	99.0	95.0		5208	-7.9	0.0	10	dbSNP_134	95	2,8332		0,2,4165	no	coding-synonymous	DOCK1	NM_001380.3		0,53,6138	TT,TC,CC		0.024,1.2599,0.428		1736/1851	129242446	53,12329	2024	4167	6191	129132436	SO:0001819	synonymous_variant	1793	exon50			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5253C>T	10.37:g.129242446C>T			129132436	NM_001380	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
FOXI2	399823	broad.mit.edu	37	10	129537084	129537084	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129537084C>A	ENST00000388920.4	+	2	851	c.812C>A	c.(811-813)tCt>tAt	p.S271Y		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	271					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S87Y(1)		large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGCGACTTTTCTTTCGGGAGG	0.711																																					p.S271Y	Esophageal Squamous(54;1038 1280 2528 31583)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812A	10						.						7.0	10.0	9.0					10																	129537084		2160	4272	6432	129427074	SO:0001583	missense	399823	exon2			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.812C>A	10.37:g.129537084C>A	ENSP00000373572:p.Ser271Tyr		129427074	NM_207426		Missense_Mutation	SNP	ENST00000388920.4	37	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959565	0.53400	.	.	ENSG00000186766	ENST00000388920	D	0.93604	-3.25	4.15	4.15	0.48705	.	0.683607	0.14216	N	0.333743	D	0.90403	0.6996	L	0.36672	1.1	0.32328	N	0.561533	P	0.52842	0.956	P	0.48030	0.564	D	0.90525	0.4491	10	0.72032	D	0.01	.	7.73	0.28781	0.0:0.8874:0.0:0.1126	.	271	Q6ZQN5	FOXI2_HUMAN	Y	271	ENSP00000373572:S271Y	ENSP00000373572:S271Y	S	+	2	0	FOXI2	129427074	0.000000	0.05858	0.196000	0.23383	0.771000	0.43674	0.677000	0.25262	2.138000	0.66242	0.561000	0.74099	TCT		0.711	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426	
PTPRE	5791	broad.mit.edu	37	10	129869087	129869087	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129869087C>T	ENST00000254667.3	+	15	1588	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	PTPRE_ENST00000419012.2_Missense_Mutation_p.R437W|PTPRE_ENST00000306042.5_Missense_Mutation_p.R379W	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	437	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R437W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GACAAATGTCCGGATCATGAA	0.522																																					p.R379W	Colon(52;977 1184 20575 41685)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1135T	10						.						79.0	68.0	72.0					10																	129869087		2203	4300	6503	129759077	SO:0001583	missense	5791	exon12			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1309C>T	10.37:g.129869087C>T	ENSP00000254667:p.Arg437Trp		129759077	NM_130435	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295720	0.81025	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.11712	2.75;2.75;2.75	4.51	4.51	0.55191	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.64402	D	0.000001	T	0.32164	0.0820	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.74674	0.984;0.952;0.963;0.952	T	0.07947	-1.0746	10	0.87932	D	0	.	17.4459	0.87577	0.0:1.0:0.0:0.0	.	415;437;379;437	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	W	437;415;437;379	ENSP00000254667:R437W;ENSP00000402337:R437W;ENSP00000303350:R379W	ENSP00000254667:R437W	R	+	1	2	PTPRE	129759077	0.981000	0.34729	0.996000	0.52242	0.959000	0.62525	2.371000	0.44248	2.337000	0.79520	0.650000	0.86243	CGG		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
PTPRE	5791	broad.mit.edu	37	10	129881110	129881110	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129881110C>T	ENST00000254667.3	+	21	2322	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	PTPRE_ENST00000419012.2_Silent_p.F681F|PTPRE_ENST00000306042.5_Silent_p.F623F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	681	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F681F(1)|p.F681L(1)|p.F623L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AGTATGAATTCTGCTACAAAG	0.264																																					p.F623F	Colon(52;977 1184 20575 41685)											.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.C1869T	10						.						74.0	77.0	76.0					10																	129881110		2197	4284	6481	129771100	SO:0001819	synonymous_variant	5791	exon18			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.2043C>T	10.37:g.129881110C>T			129771100	NM_130435	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	8.188	0.795300	0.16327	.	.	ENSG00000132334	ENST00000439034	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	T	0.54398	0.1856	.	.	.	0.80722	D	1	B	0.24768	0.111	B	0.26202	0.067	T	0.45818	-0.9235	6	.	.	.	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	614	F5H0X4	.	F	614	.	.	S	+	2	0	PTPRE	129771100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.905000	0.56333	2.884000	0.98904	0.655000	0.94253	TCT		0.264	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
MKI67	4288	broad.mit.edu	37	10	129903086	129903086	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129903086T>A	ENST00000368654.3	-	13	7393	c.7018A>T	c.(7018-7020)Ata>Tta	p.I2340L	MKI67_ENST00000368653.3_Missense_Mutation_p.I1980L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2340	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.I2340L(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)				TTGCAGGCTATTTTGGTAGTT	0.512																																					p.I1980L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5938T	10						.						306.0	321.0	316.0					10																	129903086		2203	4300	6503	129793076	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7018A>T	10.37:g.129903086T>A	ENSP00000357643:p.Ile2340Leu		129793076	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	6.749	0.506939	0.12883	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	2.91	-0.725	0.11174	.	1.101030	0.07104	N	0.840966	T	0.04092	0.0114	L	0.55481	1.735	0.09310	N	1	B;B;B	0.19445	0.002;0.036;0.023	B;B;B	0.26202	0.002;0.067;0.012	T	0.47315	-0.9127	10	0.28530	T	0.3	.	7.6075	0.28110	0.0:0.5945:0.0:0.4055	.	2339;1980;2340	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2340;1980;2339	ENSP00000357643:I2340L;ENSP00000357642:I1980L	ENSP00000357642:I1980L	I	-	1	0	MKI67	129793076	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.155000	0.11098	0.379000	0.24179	ATA		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129903377	129903377	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129903377G>T	ENST00000368654.3	-	13	7102	c.6727C>A	c.(6727-6729)Ctc>Atc	p.L2243I	MKI67_ENST00000368653.3_Missense_Mutation_p.L1883I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2243	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.L2243I(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)				GCTTTCCTGAGACTTCTCTTG	0.498																																					p.L1883I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5647A	10						.						274.0	261.0	265.0					10																	129903377		2203	4300	6503	129793367	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6727C>A	10.37:g.129903377G>T	ENSP00000357643:p.Leu2243Ile		129793367	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425304	0.25639	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02916	4.11;4.11	2.51	-0.913	0.10500	.	1.273700	0.05791	N	0.610397	T	0.07324	0.0185	L	0.50333	1.59	0.09310	N	1	P;P;D	0.63880	0.784;0.936;0.993	B;P;P	0.57620	0.235;0.692;0.824	T	0.38394	-0.9663	10	0.37606	T	0.19	.	6.5486	0.22420	0.0:0.4788:0.2701:0.2511	.	2242;1883;2243	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	2243;1883;2242	ENSP00000357643:L2243I;ENSP00000357642:L1883I	ENSP00000357642:L1883I	L	-	1	0	MKI67	129793367	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.107000	0.03316	-0.186000	0.10533	0.561000	0.74099	CTC		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129903471	129903471	+	Silent	SNP	C	C	T	rs377502553		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129903471C>T	ENST00000368654.3	-	13	7008	c.6633G>A	c.(6631-6633)acG>acA	p.T2211T	MKI67_ENST00000368653.3_Silent_p.T1851T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2211	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.T2211T(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)				TCTCATGAGTCGTGGGCTTGT	0.502																																					p.T1851T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5553A	10						.	C	,	0,4406		0,0,2203	236.0	228.0	230.0		5553,6633	-0.4	0.0	10		230	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1851/2897,2211/3257	129903471	1,13005	2203	4300	6503	129793461	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.6633G>A	10.37:g.129903471C>T			129793461	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MKI67	4288	broad.mit.edu	37	10	129905977	129905977	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129905977G>T	ENST00000368654.3	-	13	4502	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	MKI67_ENST00000368653.3_Missense_Mutation_p.S1016Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1376	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.S1376Y(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)				TTCTGGTGGAGAAGATTCGCA	0.512																																					p.S1016Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3047A	10						.						158.0	149.0	152.0					10																	129905977		2203	4300	6503	129795967	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4127C>A	10.37:g.129905977G>T	ENSP00000357643:p.Ser1376Tyr		129795967	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590505	0.46214	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02579	4.24;4.24	4.02	2.06	0.26882	.	.	.	.	.	T	0.05868	0.0153	L	0.34521	1.04	0.09310	N	1	D;D;D	0.67145	0.986;0.986;0.996	P;P;P	0.60609	0.808;0.808;0.877	T	0.40776	-0.9545	9	0.42905	T	0.14	.	6.9906	0.24753	0.2221:0.0:0.7779:0.0	.	1375;1016;1376	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Y	1376;1016;1375	ENSP00000357643:S1376Y;ENSP00000357642:S1016Y	ENSP00000357642:S1016Y	S	-	2	0	MKI67	129795967	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.133000	0.15912	0.433000	0.26313	0.561000	0.74099	TCT		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
ADARB2	105	broad.mit.edu	37	10	1313259	1313259	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:1313259G>A	ENST00000381312.1	-	4	1408	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	361					mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.F361F(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGAGTCTGCGAATTCCTGAA	0.612																																					p.F361F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1083T	10						.						91.0	65.0	74.0					10																	1313259		2203	4300	6503	1303259	SO:0001819	synonymous_variant	105	exon4			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1083C>T	10.37:g.1313259G>A			1303259	NM_018702	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	CCDS7058.1																																																																																				0.612	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
CCDC3	83643	broad.mit.edu	37	10	13040440	13040440	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:13040440C>A	ENST00000378825.3	-	2	573	c.447G>T	c.(445-447)gaG>gaT	p.E149D	CCDC3_ENST00000378839.1_Missense_Mutation_p.E24D	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	149						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.E149D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TCCTTCTGTTCTCTTGAGTGT	0.448																																					p.E149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	10						.						130.0	116.0	121.0					10																	13040440		2203	4300	6503	13080446	SO:0001583	missense	83643	exon2			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.447G>T	10.37:g.13040440C>A	ENSP00000368102:p.Glu149Asp		13080446	NM_031455	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	ENST00000378825.3	37	CCDS7093.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243296	0.58995	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.92	1.03	0.20045	.	0.047523	0.85682	D	0.000000	T	0.65903	0.2736	L	0.56769	1.78	0.40642	D	0.981958	D	0.67145	0.996	D	0.76071	0.987	T	0.60535	-0.7244	9	0.29301	T	0.29	-0.639	8.9823	0.35972	0.0:0.7009:0.0:0.2991	.	149	Q9BQI4	CCDC3_HUMAN	D	24;149	.	ENSP00000368102:E149D	E	-	3	2	CCDC3	13080446	0.972000	0.33761	0.998000	0.56505	0.966000	0.64601	0.196000	0.17176	-0.002000	0.14469	-0.379000	0.06801	GAG		0.448	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046829.1	NM_031455	
MKI67	4288	broad.mit.edu	37	10	129906624	129906624	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:129906624G>T	ENST00000368654.3	-	13	3855	c.3480C>A	c.(3478-3480)ttC>ttA	p.F1160L	MKI67_ENST00000368653.3_Missense_Mutation_p.F800L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1160	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.F1160L(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)				TGAGTGCTAAGAATTCTTCCT	0.463																																					p.F800L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2400A	10						.						332.0	317.0	322.0					10																	129906624		2203	4300	6503	129796614	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3480C>A	10.37:g.129906624G>T	ENSP00000357643:p.Phe1160Leu		129796614	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.547379	0.00926	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01804	4.63;4.63	2.87	-0.269	0.12930	.	2.776490	0.01645	N	0.024249	T	0.01092	0.0036	N	0.04355	-0.22	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.44544	-0.9321	10	0.09590	T	0.72	.	5.9388	0.19181	0.226:0.5262:0.2477:0.0	.	1159;800;1160	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1160;800;1159	ENSP00000357643:F1160L;ENSP00000357642:F800L	ENSP00000357642:F800L	F	-	3	2	MKI67	129796614	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.348000	0.07740	-0.045000	0.13468	-0.304000	0.09214	TTC		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
OPTN	10133	broad.mit.edu	37	10	13160940	13160940	+	Missense_Mutation	SNP	G	G	A	rs368244180	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:13160940G>A	ENST00000378748.3	+	8	1041	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378752.3_Missense_Mutation_p.E221K|OPTN_ENST00000378747.3_Missense_Mutation_p.E227K|OPTN_ENST00000378757.2_Missense_Mutation_p.E227K|OPTN_ENST00000378764.2_Missense_Mutation_p.E221K|OPTN_ENST00000263036.5_Missense_Mutation_p.E227K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	227					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.E227K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAATTACTTCGAACATGAGGA	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		18848	0.003		0.0	False		,,,				2504	0.0				p.E227K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	10						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	98.0	97.0	97.0		679,679,679,679	5.3	0.7	10		97	0,8600		0,0,4300	no	missense,missense,missense,missense	OPTN	NM_001008211.1,NM_001008212.1,NM_001008213.1,NM_021980.4	56,56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	227/578,227/578,227/578,227/578	13160940	1,13005	2203	4300	6503	13200946	SO:0001583	missense	10133	exon6			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.679G>A	10.37:g.13160940G>A	ENSP00000368022:p.Glu227Lys		13200946	NM_021980	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384156	0.61845	2.27E-4	0.0	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.88354	-2.37;-2.36;-2.37;-2.36;-2.37;-2.37	6.16	5.26	0.73747	.	0.220376	0.53938	N	0.000055	D	0.93174	0.7826	M	0.77103	2.36	0.53005	D	0.999963	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.932	D	0.92541	0.6042	10	0.41790	T	0.15	-16.5552	10.6197	0.45472	0.0721:0.1335:0.7944:0.0	.	221;227	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	K	227;221;227;221;227;227	ENSP00000263036:E227K;ENSP00000368040:E221K;ENSP00000368032:E227K;ENSP00000368027:E221K;ENSP00000368022:E227K;ENSP00000368021:E227K	ENSP00000263036:E227K	E	+	1	0	OPTN	13200946	1.000000	0.71417	0.745000	0.31077	0.164000	0.22412	4.263000	0.58853	1.617000	0.50277	0.650000	0.86243	GAA		0.438	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
MGMT	4255	broad.mit.edu	37	10	131557519	131557519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:131557519G>T	ENST00000306010.7	+	4	453	c.421G>T	c.(421-423)Gaa>Taa	p.E141*		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	110					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)	p.E110*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GAAATTCGGAGAAGTGATTTC	0.498								Direct reversal of damage																													p.E141X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G421T	10						.						108.0	112.0	111.0					10																	131557519		2203	4300	6503	131447509	SO:0001587	stop_gained	4255	exon4			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.421G>T	10.37:g.131557519G>T	ENSP00000302111:p.Glu141*		131447509	NM_002412	Q5VY78	Nonsense_Mutation	SNP	ENST00000306010.7	37	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	34	5.322163	0.95708	.	.	ENSG00000170430	ENST00000306010	.	.	.	5.53	4.61	0.57282	.	0.112392	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	16.2896	0.82739	0.0:0.1329:0.8671:0.0	.	.	.	.	X	141	.	ENSP00000302111:E141X	E	+	1	0	MGMT	131447509	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	5.799000	0.69101	1.449000	0.47699	0.650000	0.86243	GAA		0.498	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412	
JAKMIP3	282973	broad.mit.edu	37	10	133930957	133930957	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:133930957C>T	ENST00000298622.4	+	2	650	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	171						Golgi apparatus (GO:0005794)		p.A171V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTGGAGGAGGCGCTGACGCTG	0.607																																					p.A171V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C512T	10						.																																			133780947	SO:0001583	missense	282973	exon2			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.512C>T	10.37:g.133930957C>T	ENSP00000298622:p.Ala171Val		133780947	NM_001105521	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685906	0.88639	.	.	ENSG00000188385	ENST00000298622	T	0.07567	3.18	4.66	4.66	0.58398	.	0.057116	0.64402	D	0.000001	T	0.28001	0.0690	M	0.67397	2.05	0.37993	D	0.933973	D	0.89917	1.0	D	0.85130	0.997	T	0.04360	-1.0957	10	0.42905	T	0.14	-29.4412	17.7631	0.88470	0.0:1.0:0.0:0.0	.	171	Q5VZ66	JKIP3_HUMAN	V	171	ENSP00000298622:A171V	ENSP00000298622:A171V	A	+	2	0	JAKMIP3	133780947	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.215000	0.77966	2.419000	0.82065	0.591000	0.81541	GCG		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
DPYSL4	10570	broad.mit.edu	37	10	134006168	134006168	+	Silent	SNP	C	C	T	rs148548080		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:134006168C>T	ENST00000338492.4	+	3	299	c.135C>T	c.(133-135)atC>atT	p.I45I	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_5'Flank|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	45					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I45I(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAGACAAATCGGAGAAAACC	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18277	0.0		0.0	False		,,,				2504	0.0				p.I45I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C135T	10						.						84.0	79.0	80.0					10																	134006168		2203	4300	6503	133856158	SO:0001819	synonymous_variant	10570	exon3			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.135C>T	10.37:g.134006168C>T			133856158	NM_006426	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	CCDS7665.1																																																																																				0.562	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		
CFAP46	54777	broad.mit.edu	37	10	134748292	134748292	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:134748292T>C	ENST00000368586.5	-	8	930	c.830A>G	c.(829-831)tAc>tGc	p.Y277C	TTC40_ENST00000368582.2_Missense_Mutation_p.Y277C|TTC40_ENST00000368585.3_Missense_Mutation_p.Y277C	NM_001200049.2	NP_001186978.2												p.Y277C(1)|p.Y219C(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGTGGTTGTAATGACCTAA	0.378																																					p.Y277C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A830G	10						.						105.0	101.0	103.0					10																	134748292		2203	4300	6503	134598282	SO:0001583	missense	255352	exon8																														ENST00000368586.5:c.830A>G	10.37:g.134748292T>C	ENSP00000357575:p.Tyr277Cys		134598282	NM_173572		Missense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346273	0.41599	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	T;T;T	0.54866	0.55;0.55;0.55	4.08	-0.00985	0.13999	.	0.718318	0.12508	N	0.462742	T	0.56514	0.1990	L	0.58101	1.795	0.09310	N	1	D	0.67145	0.996	P	0.59288	0.855	T	0.45731	-0.9241	10	0.54805	T	0.06	.	3.4084	0.07350	0.349:0.1044:0.0:0.5466	.	277	Q5SR76-1	.	C	277	ENSP00000357575:Y277C;ENSP00000357571:Y277C;ENSP00000357574:Y277C	ENSP00000357571:Y277C	Y	-	2	0	C10orf93	134598282	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.488000	0.06497	-0.105000	0.12132	0.496000	0.49642	TAC		0.378	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		
KNDC1	85442	broad.mit.edu	37	10	135020445	135020445	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:135020445G>T	ENST00000304613.3	+	19	3588	c.3567G>T	c.(3565-3567)aaG>aaT	p.K1189N	KNDC1_ENST00000368572.2_Missense_Mutation_p.K1191N|KNDC1_ENST00000368571.2_Missense_Mutation_p.K1124N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1189					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.K1189N(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTTGGTCAAGAAGTATCTGC	0.567																																					p.K1189N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3567T	10						.						78.0	81.0	80.0					10																	135020445		2203	4300	6503	134870435	SO:0001583	missense	85442	exon19			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3567G>T	10.37:g.135020445G>T	ENSP00000304437:p.Lys1189Asn		134870435	NM_152643	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770300	0.69992	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.33216	2.02;2.02;1.42	4.45	4.45	0.53987	.	0.000000	0.64402	U	0.000001	T	0.48519	0.1504	M	0.64997	1.995	0.45046	D	0.998068	D;D	0.89917	0.999;1.0	D;D	0.80764	0.964;0.994	T	0.49615	-0.8921	10	0.87932	D	0	-32.1324	8.7668	0.34708	0.1065:0.0:0.8934:0.0	.	1124;1189	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	N	1189;1191;1124	ENSP00000304437:K1189N;ENSP00000357561:K1191N;ENSP00000357560:K1124N	ENSP00000304437:K1189N	K	+	3	2	KNDC1	134870435	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.698000	0.47068	2.192000	0.70111	0.537000	0.68136	AAG		0.567	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
VENTX	27287	broad.mit.edu	37	10	135053457	135053457	+	Missense_Mutation	SNP	C	C	T	rs375001040		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:135053457C>T	ENST00000325980.9	+	3	935	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	142					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R142C(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GTTTCAGAATCGCCGCATGAA	0.577																																					p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	10						.	C	CYS/ARG	0,4406		0,0,2203	47.0	55.0	52.0		424	1.7	0.9	10		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	VENTX	NM_014468.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	142/259	135053457	1,13005	2203	4300	6503	134903447	SO:0001583	missense	27287	exon3			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.424C>T	10.37:g.135053457C>T	ENSP00000357556:p.Arg142Cys		134903447	NM_014468	Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957669	0.34565	0.0	1.16E-4	ENSG00000151650	ENST00000325980	D	0.97598	-4.45	2.59	1.66	0.24008	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.071156	0.56097	U	0.000030	D	0.98779	0.9589	H	0.98883	4.36	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.96702	0.9519	10	0.87932	D	0	.	5.1615	0.15064	0.0:0.8225:0.0:0.1775	.	142	O95231	VENTX_HUMAN	C	142	ENSP00000357556:R142C	ENSP00000357556:R142C	R	+	1	0	VENTX	134903447	0.979000	0.34478	0.924000	0.36721	0.392000	0.30506	0.429000	0.21412	0.419000	0.25927	0.442000	0.29010	CGC		0.577	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468	
PAOX	196743	broad.mit.edu	37	10	135197516	135197516	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:135197516G>A	ENST00000278060.5	+	4	1004	c.921G>A	c.(919-921)gaG>gaA	p.E307E	PAOX_ENST00000357296.3_Silent_p.E307E|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	445					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.E307E(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGCCGGCTGAGAAGGCAGAAG	0.502																																					p.E307E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G921A	10						.						125.0	136.0	132.0					10																	135197516		2203	4300	6503	135047506	SO:0001819	synonymous_variant	196743	exon4			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.921G>A	10.37:g.135197516G>A			135047506	NM_152911	D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	CCDS7683.1																																																																																				0.502	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911	
CYP2E1	1571	broad.mit.edu	37	10	135350581	135350581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:135350581G>T	ENST00000463117.2	+	9	1254	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.E328*|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	328					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.E328*(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCTCCATGAAGAAATTGACAG	0.493									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																												p.E328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G982T	10						.						94.0	84.0	87.0					10																	135350581		2203	4300	6503	135200571	SO:0001587	stop_gained	1571	exon7	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.982G>T	10.37:g.135350581G>T	ENSP00000440689:p.Glu328*		135200571	NM_000773	Q5VZD5|Q6NWT9|Q9UK47	Nonsense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301888	0.81136	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	.	.	.	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.1336	0.72545	0.0:0.0:1.0:0.0	.	.	.	.	X	328;328;241;191	.	ENSP00000252945:E328X	E	+	1	0	CYP2E1	135200571	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	8.651000	0.91078	2.510000	0.84645	0.598000	0.82781	GAA		0.493	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
TUBB8	347688	broad.mit.edu	37	10	94559	94559	+	Silent	SNP	G	G	T	rs201828096		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94559G>T	ENST00000309812.4	-	3	335	c.273C>A	c.(271-273)atC>atA	p.I91I	TUBB8_ENST00000447903.2_Silent_p.I19I|TUBB8_ENST00000332708.5_Missense_Mutation_p.S55Y|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	91					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.I91I(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCACCGAAGATGAAGTTGT	0.632																																					p.I19I	Pancreas(192;2041 3010 9013 18103)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C57A	10						.						42.0	52.0	48.0					10																	94559		2201	4297	6498	84559	SO:0001819	synonymous_variant	347688	exon3			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.273C>A	10.37:g.94559G>T			84559	NM_001164154	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	G	1.772	-0.484200	0.04383	.	.	ENSG00000173876	ENST00000332708	.	.	.	0.109	0.109	0.14578	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56086	-0.8037	5	0.87932	D	0	.	3.7025	0.08387	1.0E-4:0.4891:0.5106:2.0E-4	.	.	.	.	Y	55	.	ENSP00000371071:S55Y	S	-	2	0	RP11-631M21.2	84559	0.969000	0.33509	0.043000	0.18650	0.046000	0.14306	-0.238000	0.08977	0.181000	0.19994	0.184000	0.17185	TCT		0.632	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987	
ZMYND11	10771	broad.mit.edu	37	10	286020	286020	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:286020C>T	ENST00000397962.3	+	8	1150	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ZMYND11_ENST00000403354.1_Missense_Mutation_p.A187V|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A224V|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000381591.1_Missense_Mutation_p.A241V|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A147V|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A210V|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A240V|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A156V|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A156V|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A147V|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A241V|ZMYND11_ENST00000381604.4_Missense_Mutation_p.A201V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	241					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.A201V(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)		GCTGACATTGCGAGGATGCTA	0.328																																					p.A240V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719T	10						.						110.0	117.0	115.0					10																	286020		2203	4300	6503	276020	SO:0001583	missense	10771	exon8			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.722C>T	10.37:g.286020C>T	ENSP00000381053:p.Ala241Val		276020	NM_212479	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	C	31	5.093592	0.94149	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.73962	2.25	0.43342	D	0.995399	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;P;P;D	0.79784	0.987;0.993;0.984;0.954;0.989;0.936;0.906;0.906;0.954	T	0.67616	-0.5625	9	0.59425	D	0.04	-19.1681	17.7538	0.88442	0.0:1.0:0.0:0.0	.	241;156;186;241;187;170;187;187;210	Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.;.;.	V	241;201;201;241;156;241;187;147;210;201;224;147	ENSP00000381053:A241V;ENSP00000309992:A201V;ENSP00000371015:A201V;ENSP00000381050:A156V;ENSP00000371003:A241V;ENSP00000385484:A187V;ENSP00000371020:A147V;ENSP00000386010:A210V;ENSP00000371017:A201V;ENSP00000370996:A224V;ENSP00000438461:A147V	ENSP00000309992:A201V	A	+	2	0	ZMYND11	276020	1.000000	0.71417	0.804000	0.32291	0.863000	0.49368	5.556000	0.67307	2.618000	0.88619	0.563000	0.77884	GCG		0.328	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624	
LARP4B	23185	broad.mit.edu	37	10	860951	860951	+	Silent	SNP	C	C	T	rs140726859	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:860951C>T	ENST00000316157.3	-	15	1795	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	585					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.S585S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AAGCCGGCACCGAGGGCTCTC	0.567													C|||	11	0.00219649	0.0083	0.0	5008	,	,		19066	0.0		0.0	False		,,,				2504	0.0				p.S585S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1755A	10						.	C		29,4377	34.3+/-65.2	0,29,2174	85.0	80.0	81.0		1755	-11.7	0.0	10	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LARP4B	NM_015155.1		0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307		585/739	860951	30,12976	2203	4300	6503	850951	SO:0001819	synonymous_variant	23185	exon15			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1755G>A	10.37:g.860951C>T			850951	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	CCDS31131.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	0.373|0.373	-0.932706|-0.932706	0.02359|0.02359	0.006582|0.006582	1.16E-4|1.16E-4	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000440895	.|.	.|.	.|.	5.85|5.85	-11.7|-11.7	0.00046|0.00046	.|.	.|.	.|.	.|.	.|.	T|T	0.18257|0.18257	0.0438|0.0438	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20739|0.20739	-1.0266|-1.0266	4|4	.|.	.|.	.|.	-0.224|-0.224	9.369|9.369	0.38241|0.38241	0.2599:0.544:0.0924:0.1036|0.2599:0.544:0.0924:0.1036	.|.	.|.	.|.	.|.	S|Q	151|61	.|.	.|.	G|R	-|-	1|2	0|0	LARP4B|LARP4B	850951|850951	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.313000|-2.313000	0.01126|0.01126	-3.740000|-3.740000	0.00113|0.00113	-0.921000|-0.921000	0.02739|0.02739	GGT|CGG		0.567	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
LARP4B	23185	broad.mit.edu	37	10	863670	863670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:863670C>A	ENST00000316157.3	-	14	1730	c.1690G>T	c.(1690-1692)Gaa>Taa	p.E564*	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	564					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.E564*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTTACCCTTTCTTTGGATGGT	0.453																																					p.E564X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1690T	10						.						227.0	243.0	238.0					10																	863670		2203	4300	6503	853670	SO:0001587	stop_gained	23185	exon14			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1690G>T	10.37:g.863670C>A	ENSP00000326128:p.Glu564*		853670	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Nonsense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.0|22.0|22.0	4.231156|4.231156|4.231156	0.79688|0.79688|0.79688	.|.|.	.|.|.	ENSG00000107929|ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000440895|ENST00000448368	.|.|.	.|.|.	.|.|.	6.11|6.11|6.11	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	0.132236|.|.	0.64402|.|.	D|.|.	0.000002|.|.	.|T|T	.|0.71117|0.71117	.|0.3302|0.3302	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.74768|0.74768	.|-0.3553|-0.3553	.|4|3	0.62326|0.87932|.	D|D|.	0.03|0|.	-12.3297|-12.3297|-12.3297	15.4396|15.4396|15.4396	0.75173|0.75173|0.75173	0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	564|39|129	.|.|.	ENSP00000326128:E564X|ENSP00000403018:K39N|.	E|K|R	-|-|-	1|3|2	0|2|0	LARP4B|LARP4B|LARP4B	853670|853670|853670	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.298000|0.298000|0.298000	0.27526|0.27526|0.27526	7.208000|7.208000|7.208000	0.77907|0.77907|0.77907	1.605000|1.605000|1.605000	0.50152|0.50152|0.50152	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GAA|AAG|AGA		0.453	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
LARP4B	23185	broad.mit.edu	37	10	875487	875487	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:875487C>A	ENST00000316157.3	-	10	1003	c.963G>T	c.(961-963)aaG>aaT	p.K321N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	321					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.K321N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TAAATCCATTCTTTGGCAAAA	0.453																																					p.K321N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G963T	10						.						117.0	91.0	100.0					10																	875487		2203	4300	6503	865487	SO:0001583	missense	23185	exon10			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.963G>T	10.37:g.875487C>A	ENSP00000326128:p.Lys321Asn		865487	NM_015155	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669197	0.88348	.	.	ENSG00000107929	ENST00000316157	T	0.42131	0.98	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.58510	1.815	0.80722	D	1	D	0.55800	0.973	D	0.63597	0.916	T	0.62348	-0.6873	10	0.72032	D	0.01	-2.4322	19.7859	0.96437	0.0:1.0:0.0:0.0	.	321	Q92615	LAR4B_HUMAN	N	321	ENSP00000326128:K321N	ENSP00000326128:K321N	K	-	3	2	LARP4B	865487	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.912000	0.69948	2.746000	0.94184	0.655000	0.94253	AAG		0.453	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
AKR1C2	1646	broad.mit.edu	37	10	5045953	5045953	+	Silent	SNP	C	C	T	rs138707913	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5045953C>T	ENST00000380753.4	-	1	262	c.75G>A	c.(73-75)gcG>gcA	p.A25A	U8_ENST00000459141.1_RNA|AKR1C2_ENST00000407674.1_Silent_p.A25A|AKR1C2_ENST00000455190.1_Silent_p.A25A|AKR1C2_ENST00000604428.1_5'Flank|AKR1C2_ENST00000421196.3_Silent_p.A25A	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	25					cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.A25A(2)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	CCTCTGCAGGCGCATAGGTGC	0.448													c|||	18	0.00359425	0.0136	0.0	5008	,	,		20291	0.0		0.0	False		,,,				2504	0.0				p.A25A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G75A	10						.	C	,,	51,4355	51.6+/-87.1	3,45,2155	134.0	109.0	117.0		75,75,75	-3.0	0.0	10	dbSNP_134	117	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	AKR1C2	NM_001135241.1,NM_001354.4,NM_205845.1	,,	3,45,6452	TT,TC,CC		0.0,1.1575,0.3923	,,	25/140,25/324,25/324	5045953	51,12949	2203	4297	6500	5035953	SO:0001819	synonymous_variant	1646	exon2			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.75G>A	10.37:g.5045953C>T			5035953	NM_205845	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Silent	SNP	ENST00000380753.4	37	CCDS7062.1																																																																																				0.448	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354	
AKR1C3	8644	broad.mit.edu	37	10	5136668	5136668	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5136668A>C	ENST00000380554.3	+	1	684	c.32A>C	c.(31-33)aAt>aCt	p.N11T	AKR1C3_ENST00000439082.2_Intron|U8_ENST00000459536.1_RNA|AKR1C3_ENST00000470862.2_Intron|AKR1C3_ENST00000605149.1_Intron	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	11					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.N11T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	GTAAAGCTAAATGATGGCCAC	0.413																																					p.N11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A32C	10						.						243.0	210.0	221.0					10																	5136668		2203	4299	6502	5126668	SO:0001583	missense	8644	exon1			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.32A>C	10.37:g.5136668A>C	ENSP00000369927:p.Asn11Thr		5126668	NM_003739	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Intron	SNP	ENST00000380554.3	37	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435892	0.43224	.	.	ENSG00000196139	ENST00000380554	T	0.55052	0.54	2.18	0.979	0.19745	NADP-dependent oxidoreductase domain (2);	0.189949	0.34245	N	0.004126	T	0.57651	0.2068	M	0.83384	2.64	0.80722	D	1	P;P	0.40180	0.614;0.705	P;B	0.46110	0.504;0.214	T	0.58059	-0.7703	10	0.87932	D	0	.	6.6165	0.22780	0.756:0.244:0.0:0.0	.	11;11	B4DKT3;P42330	.;AK1C3_HUMAN	T	11	ENSP00000369927:N11T	ENSP00000369927:N11T	N	+	2	0	AKR1C3	5126668	0.988000	0.35896	0.020000	0.16555	0.656000	0.38851	1.758000	0.38410	0.254000	0.21573	0.260000	0.18958	AAT		0.413	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739	
TUBAL3	79861	broad.mit.edu	37	10	5436009	5436009	+	Missense_Mutation	SNP	C	C	A	rs200240096		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5436009C>A	ENST00000380419.3	-	4	849	c.812G>T	c.(811-813)aGa>aTa	p.R271I	TUBAL3_ENST00000479328.1_Missense_Mutation_p.R231I	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	271					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R271I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GAAATGTATTCTCGGATAAGG	0.512																																					p.R271I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812T	10						.	C	ILE/ARG,ILE/ARG	0,4406		0,0,2203	173.0	172.0	172.0		692,812	2.3	0.1	10		172	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TUBAL3	NM_001171864.1,NM_024803.2	97,97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	231/407,271/447	5436009	1,13005	2203	4300	6503	5426009	SO:0001583	missense	79861	exon4			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.812G>T	10.37:g.5436009C>A	ENSP00000369784:p.Arg271Ile		5426009	NM_024803	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919390	0.33908	0.0	1.16E-4	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.84660	-1.88;-1.88	4.2	2.32	0.28847	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.114391	0.39407	N	0.001378	D	0.95974	0.8689	H	0.99976	5.16	0.50632	D	0.999885	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.867	D	0.94186	0.7436	10	0.87932	D	0	.	9.709	0.40233	0.0:0.8226:0.0:0.1774	.	231;271	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	I	271;231	ENSP00000369784:R271I;ENSP00000418799:R231I	ENSP00000369784:R271I	R	-	2	0	TUBAL3	5426009	0.994000	0.37717	0.052000	0.19188	0.001000	0.01503	4.805000	0.62561	0.504000	0.28082	-0.145000	0.13849	AGA		0.512	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803	
NET1	10276	broad.mit.edu	37	10	5496339	5496339	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5496339C>A	ENST00000355029.4	+	9	1022	c.880C>A	c.(880-882)Ctc>Atc	p.L294I	NET1_ENST00000380359.3_Missense_Mutation_p.L240I|NET1_ENST00000542715.1_Missense_Mutation_p.L113I	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	294	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L240I(1)|p.L294I(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAGCGATGTCTCGAGTCTCC	0.433																																					p.L240I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C718A	10						.						74.0	70.0	72.0					10																	5496339		2203	4300	6503	5486339	SO:0001583	missense	10276	exon7			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.880C>A	10.37:g.5496339C>A	ENSP00000347134:p.Leu294Ile		5486339	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343694	0.61073	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000449083;ENST00000380359;ENST00000380337	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.97	5.97	0.96955	Dbl homology (DH) domain (5);	0.000000	0.36972	N	0.002302	T	0.67534	0.2903	M	0.73962	2.25	0.58432	D	0.999995	B;B	0.13145	0.002;0.007	B;B	0.26094	0.066;0.066	T	0.62760	-0.6786	10	0.45353	T	0.12	-18.0352	18.9877	0.92779	0.0:1.0:0.0:0.0	.	240;294	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	I	294;113;112;240;112	ENSP00000347134:L294I;ENSP00000446452:L113I;ENSP00000403101:L112I;ENSP00000369717:L240I	ENSP00000347134:L294I	L	+	1	0	NET1	5486339	1.000000	0.71417	0.977000	0.42913	0.907000	0.53573	5.954000	0.70298	2.828000	0.97474	0.655000	0.94253	CTC		0.433	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	
NET1	10276	broad.mit.edu	37	10	5498571	5498571	+	Missense_Mutation	SNP	C	C	T	rs150542987	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5498571C>T	ENST00000355029.4	+	12	1547	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	NET1_ENST00000380359.3_Missense_Mutation_p.R415C|NET1_ENST00000542715.1_Missense_Mutation_p.R288C	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R469C(1)|p.R415C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTTTAGAATTCGCTTCCATGA	0.403																																					p.R415C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1243T	10						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	49.0	54.0	52.0		1405,1243	4.3	1.0	10	dbSNP_134	52	1,8599		0,1,4299	no	missense,missense	NET1	NM_001047160.1,NM_005863.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	469/597,415/543	5498571	1,13005	2203	4300	6503	5488571	SO:0001583	missense	10276	exon10			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1405C>T	10.37:g.5498571C>T	ENSP00000347134:p.Arg469Cys		5488571	NM_005863	Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060270	0.36373	0.0	1.16E-4	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.30714	1.52;1.52;1.52	5.23	4.33	0.51752	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.162786	0.28688	N	0.014461	T	0.50360	0.1611	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.959	T	0.52275	-0.8597	10	0.59425	D	0.04	-6.7999	14.7327	0.69393	0.0:0.8542:0.1458:0.0	.	415;469	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	C	469;288;415	ENSP00000347134:R469C;ENSP00000446452:R288C;ENSP00000369717:R415C	ENSP00000347134:R469C	R	+	1	0	NET1	5488571	0.978000	0.34361	1.000000	0.80357	0.236000	0.25371	1.880000	0.39628	1.198000	0.43158	-0.223000	0.12442	CGC		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863	
FAM208B	54906	broad.mit.edu	37	10	5772558	5772558	+	Missense_Mutation	SNP	G	G	T	rs370325689		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5772558G>T	ENST00000328090.5	+	11	1221	c.596G>T	c.(595-597)aGa>aTa	p.R199I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	199								p.R199I(1)									CCTGAAGAAAGAATCCATCCA	0.388																																					p.R199I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G596T	10						.						124.0	114.0	117.0					10																	5772558		1856	4103	5959	5812564	SO:0001583	missense	54906	exon11			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.596G>T	10.37:g.5772558G>T	ENSP00000328426:p.Arg199Ile		5812564	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	7.709	0.694802	0.15039	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04406	3.63	5.95	1.44	0.22558	.	0.532850	0.18566	N	0.137469	T	0.02267	0.0070	N	0.08118	0	0.25366	N	0.988743	P	0.35363	0.497	B	0.26202	0.067	T	0.45716	-0.9242	10	0.52906	T	0.07	.	8.7843	0.34811	0.1462:0.3413:0.5125:0.0	.	199	Q5VWN6	F208B_HUMAN	I	199	ENSP00000328426:R199I	ENSP00000328426:R199I	R	+	2	0	C10orf18	5812564	0.474000	0.25886	0.615000	0.29064	0.184000	0.23303	0.869000	0.27996	0.401000	0.25424	-0.300000	0.09419	AGA		0.388	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FAM208B	54906	broad.mit.edu	37	10	5772886	5772886	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5772886A>C	ENST00000328090.5	+	11	1549	c.924A>C	c.(922-924)gaA>gaC	p.E308D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	308								p.E308D(1)									CAGATCCTGAATTTCTTGTCT	0.403																																					p.E308D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A924C	10						.						141.0	128.0	132.0					10																	5772886		1855	4107	5962	5812892	SO:0001583	missense	54906	exon11			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.924A>C	10.37:g.5772886A>C	ENSP00000328426:p.Glu308Asp		5812892	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.013|9.013	0.983090|0.983090	0.18889|0.18889	.|.	.|.	ENSG00000108021|ENSG00000108021	ENST00000328090;ENST00000442808|ENST00000380270	T|.	0.07021|.	3.23|.	5.92|5.92	0.933|0.933	0.19471|0.19471	.|.	0.201967|.	0.35378|.	N|.	0.003244|.	T|T	0.42291|0.42291	0.1196|0.1196	M|M	0.72894|0.72894	2.215|2.215	0.20563|0.20563	N|N	0.999884|0.999884	B|.	0.12630|.	0.006|.	B|.	0.12156|.	0.007|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|5	0.46703|.	T|.	0.11|.	.|.	1.9215|1.9215	0.03308|0.03308	0.5384:0.111:0.1322:0.2184|0.5384:0.111:0.1322:0.2184	.|.	308|.	Q5VWN6|.	F208B_HUMAN|.	D|L	308|88	ENSP00000328426:E308D|.	ENSP00000328426:E308D|.	E|I	+|+	3|1	2|0	C10orf18|C10orf18	5812892|5812892	0.881000|0.881000	0.30235|0.30235	0.984000|0.984000	0.44739|0.44739	0.105000|0.105000	0.19272|0.19272	-0.086000|-0.086000	0.11233|0.11233	-0.099000|-0.099000	0.12263|0.12263	-1.533000|-1.533000	0.00918|0.00918	GAA|ATT		0.403	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FAM208B	54906	broad.mit.edu	37	10	5789270	5789270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5789270G>T	ENST00000328090.5	+	15	4511	c.3886G>T	c.(3886-3888)Gaa>Taa	p.E1296*		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1296								p.E1296*(1)									AAGTCCCAGAGAAGAAATGCC	0.443																																					p.E1296X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3886T	10						.						124.0	127.0	126.0					10																	5789270		1844	4102	5946	5829276	SO:0001587	stop_gained	54906	exon15			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3886G>T	10.37:g.5789270G>T	ENSP00000328426:p.Glu1296*		5829276	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	46	12.883542	0.99703	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	5.02	4.11	0.48088	.	0.224834	0.31415	N	0.007692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.5164	0.39109	0.0976:0.0:0.9024:0.0	.	.	.	.	X	1296;491	.	ENSP00000328426:E1296X	E	+	1	0	C10orf18	5829276	0.033000	0.19621	0.664000	0.29753	0.829000	0.46940	1.401000	0.34589	1.312000	0.45043	0.491000	0.48974	GAA		0.443	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FAM208B	54906	broad.mit.edu	37	10	5798644	5798644	+	Missense_Mutation	SNP	G	G	T	rs377533232		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5798644G>T	ENST00000328090.5	+	16	7300	c.6675G>T	c.(6673-6675)gaG>gaT	p.E2225D		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2225								p.E2225D(1)									TCCACAGAGAGAATGATACAC	0.368																																					p.E2225D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6675T	10						.						114.0	102.0	106.0					10																	5798644		1875	4103	5978	5838650	SO:0001583	missense	54906	exon16			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6675G>T	10.37:g.5798644G>T	ENSP00000328426:p.Glu2225Asp		5838650	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	9.227	1.034860	0.19590	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.43294	0.95	5.82	1.43	0.22495	.	0.376189	0.25863	N	0.027803	T	0.19725	0.0474	N	0.17379	0.485	0.20764	N	0.999851	B	0.21753	0.06	B	0.20577	0.03	T	0.07009	-1.0795	10	0.25106	T	0.35	.	2.6206	0.04915	0.2207:0.1906:0.4754:0.1133	.	2225	Q5VWN6	F208B_HUMAN	D	2225;1420	ENSP00000328426:E2225D	ENSP00000328426:E2225D	E	+	3	2	C10orf18	5838650	0.660000	0.27420	0.142000	0.22268	0.015000	0.08874	0.798000	0.27014	0.789000	0.33779	0.561000	0.74099	GAG		0.368	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
ANKRD16	54522	broad.mit.edu	37	10	5922267	5922267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5922267G>A	ENST00000380094.5	-	6	1465	c.922C>T	c.(922-924)Cga>Tga	p.R308*	ANKRD16_ENST00000191063.8_Intron|ANKRD16_ENST00000380092.4_Nonsense_Mutation_p.R308*	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	308								p.R308*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GTACCTGATCGATTTTTTTCA	0.294																																					p.R308X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C922T	10						.						77.0	75.0	76.0					10																	5922267		2203	4300	6503	5962273	SO:0001587	stop_gained	54522	exon6			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.922C>T	10.37:g.5922267G>A	ENSP00000369436:p.Arg308*		5962273	NM_001009941	A6NEF0|F8WEI4|Q9NT01	Nonsense_Mutation	SNP	ENST00000380094.5	37	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	G	40	8.179958	0.98693	.	.	ENSG00000134461	ENST00000380094;ENST00000380092	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.1798	10.9767	0.47469	0.0:0.0:0.813:0.187	.	.	.	.	X	308	.	ENSP00000369434:R308X	R	-	1	2	ANKRD16	5962273	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	3.339000	0.52135	2.023000	0.59567	0.478000	0.44815	CGA		0.294	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138	
IL2RA	3559	broad.mit.edu	37	10	6063598	6063598	+	Silent	SNP	G	G	A	rs373429536		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:6063598G>A	ENST00000379959.3	-	4	599	c.426C>T	c.(424-426)ttC>ttT	p.F142F	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.F142F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	142	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)	p.F142F(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCACCACGAAATGATAAA	0.512																																					p.F142F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C426T	10						.						153.0	134.0	140.0					10																	6063598		2203	4300	6503	6103604	SO:0001819	synonymous_variant	3559	exon4			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.426C>T	10.37:g.6063598G>A			6103604	NM_000417	Q5W007	Silent	SNP	ENST00000379959.3	37	CCDS7076.1																																																																																				0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417	
SFMBT2	57713	broad.mit.edu	37	10	7423837	7423837	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7423837G>T	ENST00000361972.4	-	2	114	c.24C>A	c.(22-24)tcC>tcA	p.S8S	SFMBT2_ENST00000397167.1_Silent_p.S8S|SFMBT2_ENST00000379711.2_Silent_p.S8S|SFMBT2_ENST00000379713.3_Silent_p.S8S|SFMBT2_ENST00000397160.3_Silent_p.S8S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	8					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S8S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTGCATATTGGAAGCTGACA	0.393																																					p.S8S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24A	10						.						121.0	114.0	116.0					10																	7423837		2203	4300	6503	7463843	SO:0001819	synonymous_variant	57713	exon2			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.24C>A	10.37:g.7423837G>T			7463843	NM_001029880	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.393	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH5	80760	broad.mit.edu	37	10	7611708	7611708	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7611708C>A	ENST00000256861.6	-	12	2150	c.2072G>T	c.(2071-2073)aGc>aTc	p.S691I	ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_Missense_Mutation_p.S473I|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.S477I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	691					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S691I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTGAGTCTGCTCAGGGGGAA	0.517																																					p.S691I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2072T	10						.						61.0	52.0	55.0					10																	7611708		2203	4300	6503	7651714	SO:0001583	missense	80760	exon12					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2072G>T	10.37:g.7611708C>A	ENSP00000256861:p.Ser691Ile		7651714	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	15.95	2.983242	0.53827	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02345	4.53;4.33;4.33	5.52	4.61	0.57282	.	0.035436	0.85682	D	0.000000	T	0.11750	0.0286	.	.	.	0.80722	D	1	D;D	0.69078	0.995;0.997	P;D	0.66979	0.888;0.948	T	0.00431	-1.1743	9	0.62326	D	0.03	-33.6691	10.3942	0.44190	0.0:0.8503:0.0:0.1497	.	691;477	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	I	691;477;473	ENSP00000256861:S691I;ENSP00000298441:S477I;ENSP00000387969:S473I	ENSP00000256861:S691I	S	-	2	0	ITIH5	7651714	1.000000	0.71417	0.904000	0.35570	0.031000	0.12232	3.616000	0.54174	1.321000	0.45227	0.557000	0.71058	AGC		0.517	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH5	80760	broad.mit.edu	37	10	7657989	7657989	+	Missense_Mutation	SNP	C	C	T	rs199952014		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7657989C>T	ENST00000256861.6	-	7	973	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	ITIH5_ENST00000397145.2_Missense_Mutation_p.V299M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.V81M|ITIH5_ENST00000397146.2_Missense_Mutation_p.V299M|ITIH5_ENST00000298441.6_Missense_Mutation_p.V85M	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	299	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V299M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGTCAAGCACGAATACCACA	0.473																																					p.V299M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G895A	10						.						134.0	126.0	128.0					10																	7657989		2203	4300	6503	7697995	SO:0001583	missense	80760	exon7					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.895G>A	10.37:g.7657989C>T	ENSP00000256861:p.Val299Met		7697995	NM_030569	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.506697	0.85282	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	6.08	5.18	0.71444	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	.	.	.	0.53005	D	0.999968	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.83275	0.996;0.944;0.906	D	0.94728	0.7907	9	0.87932	D	0	-31.5257	16.5965	0.84797	0.1313:0.8687:0.0:0.0	.	299;299;85	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	M	299;299;85;81;299	ENSP00000256861:V299M;ENSP00000380333:V299M;ENSP00000298441:V85M;ENSP00000387969:V81M;ENSP00000380332:V299M	ENSP00000256861:V299M	V	-	1	0	ITIH5	7697995	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.563000	0.67352	1.573000	0.49748	0.655000	0.94253	GTG		0.473	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569	
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483																																					p.F234F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C702T	10						.	C		3,4403	6.2+/-15.9	0,3,2200	162.0	136.0	145.0		702	0.4	1.0	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	ITIH2	NM_002216.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		234/947	7762890	3,13003	2203	4300	6503	7802896	SO:0001819	synonymous_variant	3698	exon7			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.702C>T	10.37:g.7762890C>T			7802896	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ITIH2	3698	broad.mit.edu	37	10	7773900	7773900	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7773900G>A	ENST00000358415.4	+	13	1754	c.1588G>A	c.(1588-1590)Gca>Aca	p.A530T	ITIH2_ENST00000379587.4_Missense_Mutation_p.A519T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	530					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A530T(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTGTGGTGGCAGGAAAATT	0.428																																					p.A530T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1588A	10						.						139.0	135.0	136.0					10																	7773900		2203	4300	6503	7813906	SO:0001583	missense	3698	exon13			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1588G>A	10.37:g.7773900G>A	ENSP00000351190:p.Ala530Thr		7813906	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232251	0.95207	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.16073	2.37;2.37	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53408	-0.8443	10	0.87932	D	0	-22.7298	19.2749	0.94027	0.0:0.0:1.0:0.0	.	530	P19823	ITIH2_HUMAN	T	530;519	ENSP00000351190:A530T;ENSP00000368906:A519T	ENSP00000351190:A530T	A	+	1	0	ITIH2	7813906	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.266000	0.78452	2.558000	0.86282	0.643000	0.83706	GCA		0.428	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ITIH2	3698	broad.mit.edu	37	10	7776914	7776914	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7776914G>T	ENST00000358415.4	+	15	1983	c.1817G>T	c.(1816-1818)aGa>aTa	p.R606I	ITIH2_ENST00000379587.4_Missense_Mutation_p.R595I	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	606					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R606I(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCCGCCAAGAGAAGAATTACA	0.547																																					p.R606I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1817T	10						.						111.0	109.0	110.0					10																	7776914		2203	4300	6503	7816920	SO:0001583	missense	3698	exon15			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1817G>T	10.37:g.7776914G>T	ENSP00000351190:p.Arg606Ile		7816920	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485040	0.44147	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.29917	1.55;1.55	5.45	-0.204	0.13200	.	0.152275	0.56097	D	0.000031	T	0.51193	0.1660	M	0.80183	2.485	0.80722	D	1	D	0.59357	0.985	D	0.63381	0.914	T	0.58640	-0.7601	10	0.66056	D	0.02	-13.4492	13.3635	0.60669	0.2192:0.0:0.7808:0.0	.	606	P19823	ITIH2_HUMAN	I	606;595	ENSP00000351190:R606I;ENSP00000368906:R595I	ENSP00000351190:R606I	R	+	2	0	ITIH2	7816920	1.000000	0.71417	0.011000	0.14972	0.043000	0.13939	4.297000	0.59061	0.025000	0.15241	0.543000	0.68304	AGA		0.547	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
ATP5C1	509	broad.mit.edu	37	10	7838103	7838103	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7838103G>A	ENST00000356708.7	+	2	155	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ATP5C1_ENST00000335698.4_Missense_Mutation_p.A26T|ATP5C1_ENST00000541227.1_Intron|ATP5C1_ENST00000493053.1_Intron	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	26					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.A26T(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TCGAAATATGGCAACTTTGAA	0.239																																					p.A26T	Melanoma(143;1012 1820 16249 30920 33158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	10						.						35.0	38.0	37.0					10																	7838103		2198	4290	6488	7878109	SO:0001583	missense	509	exon2			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.76G>A	10.37:g.7838103G>A	ENSP00000349142:p.Ala26Thr		7878109	NM_001001973	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	34	5.309351	0.95629	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90331	0.4352	9	0.87932	D	0	-6.0805	18.8351	0.92159	0.0:0.0:1.0:0.0	.	26	P36542	ATPG_HUMAN	T	26	.	ENSP00000338568:A26T	A	+	1	0	ATP5C1	7878109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.331000	0.96430	2.460000	0.83146	0.561000	0.74099	GCA		0.239	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
ATP5C1	509	broad.mit.edu	37	10	7841769	7841769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:7841769G>T	ENST00000356708.7	+	5	542	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	ATP5C1_ENST00000335698.4_Nonsense_Mutation_p.E155*|ATP5C1_ENST00000541227.1_Nonsense_Mutation_p.E108*|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	155					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.E155*(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCATTCAAAGAAGTGGGAAG	0.413																																					p.E155X	Melanoma(143;1012 1820 16249 30920 33158)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G463T	10						.						63.0	64.0	64.0					10																	7841769		2203	4300	6503	7881775	SO:0001587	stop_gained	509	exon5			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.463G>T	10.37:g.7841769G>T	ENSP00000349142:p.Glu155*		7881775	NM_001001973	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Nonsense_Mutation	SNP	ENST00000356708.7	37	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	36	5.907495	0.97093	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.73	5.73	0.89815	.	0.050091	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-12.0384	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	X	155;155;108	.	ENSP00000338568:E155X	E	+	1	0	ATP5C1	7881775	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.686000	0.98664	2.861000	0.98227	0.655000	0.94253	GAA		0.413	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
TAF3	83860	broad.mit.edu	37	10	8006604	8006604	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:8006604G>A	ENST00000344293.5	+	3	1337	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	377					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.P377P(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGAATCAGCCGAAAAAGGCTG	0.453																																					p.P377P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1131A	10						.						62.0	59.0	60.0					10																	8006604		1897	4125	6022	8046610	SO:0001819	synonymous_variant	83860	exon3			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1131G>A	10.37:g.8006604G>A			8046610	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	CCDS41487.1																																																																																				0.453	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
GATA3	2625	broad.mit.edu	37	10	8115902	8115902	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:8115902G>A	ENST00000346208.3	+	6	1703	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.L417L			P23771	GATA3_HUMAN	GATA binding protein 3	416					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.L417L(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						GCCACATGCTGACCACGCCCA	0.627			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.L416L			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1248A	10						.						98.0	86.0	90.0					10																	8115902		2203	4300	6503	8155908	SO:0001819	synonymous_variant	2625	exon6			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.1248G>A	10.37:g.8115902G>A			8155908	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	CCDS7083.1																																																																																				0.627	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
PRPF18	8559	broad.mit.edu	37	10	13642285	13642285	+	Silent	SNP	G	G	A	rs11540073		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:13642285G>A	ENST00000378572.3	+	3	346	c.186G>A	c.(184-186)tcG>tcA	p.S62S		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	62					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)	p.S62S(2)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TAACTTCATCGAATCCAGTGT	0.333																																					p.S62S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G186A	10						.						108.0	105.0	106.0					10																	13642285		2203	4300	6503	13682291	SO:0001819	synonymous_variant	8559	exon3			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.186G>A	10.37:g.13642285G>A			13682291	NM_003675	Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	CCDS7100.1																																																																																				0.333	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		
FRMD4A	55691	broad.mit.edu	37	10	13702491	13702491	+	Missense_Mutation	SNP	G	G	A	rs376696301		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:13702491G>A	ENST00000357447.2	-	20	2091	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	FRMD4A_ENST00000358621.4_Missense_Mutation_p.R560W|FRMD4A_ENST00000378503.1_Missense_Mutation_p.R575W	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	575					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.R575R(1)|p.R575W(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GACGGTGGCCGAGGAGGGAGT	0.577											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R575W												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C1723T	10						.	G	TRP/ARG	0,4406		0,0,2203	111.0	106.0	108.0		1723	4.9	1.0	10		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRMD4A	NM_018027.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	575/1040	13702491	1,13005	2203	4300	6503	13742497	SO:0001583	missense	55691	exon20			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1723C>T	10.37:g.13702491G>A	ENSP00000350032:p.Arg575Trp	689	13742497	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714339	0.89112	0.0	1.16E-4	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84442	-1.85;-1.85;-1.85	5.81	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.52554	0.702	D	0.85369	0.1112	10	0.62326	D	0.03	-12.3121	14.0568	0.64774	0.0:0.0:0.7259:0.274	.	575	Q9P2Q2	FRM4A_HUMAN	W	560;575;575	ENSP00000351438:R560W;ENSP00000350032:R575W;ENSP00000367764:R575W	ENSP00000350032:R575W	R	-	1	2	FRMD4A	13742497	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.609000	0.61148	1.460000	0.47911	0.462000	0.41574	CGG		0.577	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
FRMD4A	55691	broad.mit.edu	37	10	13782232	13782232	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:13782232A>T	ENST00000357447.2	-	11	1002	c.634T>A	c.(634-636)Tct>Act	p.S212T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S197T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S212T|FRMD4A_ENST00000342409.2_Missense_Mutation_p.S228T|RP11-353M9.1_ENST00000449462.1_RNA	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S212T(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GTTGGGAGAGACTCCACGATG	0.428																																					p.S212T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T634A	10						.						117.0	111.0	113.0					10																	13782232		2203	4300	6503	13822238	SO:0001583	missense	55691	exon11			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.634T>A	10.37:g.13782232A>T	ENSP00000350032:p.Ser212Thr		13822238	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313835	0.81358	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.9	5.9	0.94986	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	L	0.58302	1.8	0.80722	D	1	B;B;P	0.35844	0.139;0.211;0.524	B;B;P	0.48795	0.224;0.224;0.59	T	0.77643	-0.2511	10	0.20519	T	0.43	-10.8278	16.3322	0.83039	1.0:0.0:0.0:0.0	.	228;245;212	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	T	197;212;212;245;228	ENSP00000351438:S197T;ENSP00000350032:S212T;ENSP00000367764:S212T;ENSP00000264546:S245T;ENSP00000344237:S228T	ENSP00000264546:S245T	S	-	1	0	FRMD4A	13822238	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.056000	0.76662	2.251000	0.74343	0.528000	0.53228	TCT		0.428	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
FAM107B	83641	broad.mit.edu	37	10	14563226	14563226	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:14563226C>A	ENST00000378470.1	-	4	645	c.359G>T	c.(358-360)aGa>aTa	p.R120I	FAM107B_ENST00000378458.2_Missense_Mutation_p.R120I|FAM107B_ENST00000378467.4_Missense_Mutation_p.R120I|FAM107B_ENST00000478076.1_Missense_Mutation_p.R120I|FAM107B_ENST00000496330.1_Missense_Mutation_p.R120I|FAM107B_ENST00000479731.1_Missense_Mutation_p.R120I|FAM107B_ENST00000378462.1_Missense_Mutation_p.R120I|FAM107B_ENST00000181796.2_Missense_Mutation_p.R295I|FAM107B_ENST00000468747.1_Missense_Mutation_p.R120I|FAM107B_ENST00000378465.3_Missense_Mutation_p.R120I	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	120					sensory perception of sound (GO:0007605)			p.R295I(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGGCCTGTTCTCCTGAGATT	0.507																																					p.R295I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884T	10						.						172.0	153.0	159.0					10																	14563226		2203	4300	6503	14603232	SO:0001583	missense	83641	exon5			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.359G>T	10.37:g.14563226C>A	ENSP00000367731:p.Arg120Ile		14603232	NM_031453	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.865721	0.91511	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.62	5.62	0.85841	.	0.081241	0.85682	D	0.000000	T	0.64516	0.2605	M	0.67397	2.05	0.80722	D	1	D;P	0.76494	0.999;0.918	D;P	0.71656	0.974;0.604	T	0.66991	-0.5783	10	0.87932	D	0	.	11.6661	0.51374	0.0:0.9184:0.0:0.0816	.	295;120	Q9H098-2;Q9H098	.;F107B_HUMAN	I	120;295;120;120;120;120;120;120;120;120;120;120;120;120;120	ENSP00000367731:R120I;ENSP00000181796:R295I;ENSP00000418120:R120I;ENSP00000367728:R120I;ENSP00000367726:R120I;ENSP00000367719:R120I;ENSP00000417782:R120I;ENSP00000367723:R120I;ENSP00000418330:R120I;ENSP00000419603:R120I;ENSP00000420444:R120I;ENSP00000413676:R120I;ENSP00000420249:R120I;ENSP00000418395:R120I	ENSP00000181796:R295I	R	-	2	0	FAM107B	14603232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.590000	0.67530	2.642000	0.89623	0.563000	0.77884	AGA		0.507	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453	
HSPA14	51182	broad.mit.edu	37	10	14894396	14894396	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:14894396A>G	ENST00000378372.3	+	8	839	c.600A>G	c.(598-600)ggA>ggG	p.G200G		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	200					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.G200G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGCTTGGAGGAACATCCTTAT	0.353																																					p.G200G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A600G	10						.						155.0	146.0	149.0					10																	14894396		2203	4300	6503	14934402	SO:0001819	synonymous_variant	51182	exon8			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.600A>G	10.37:g.14894396A>G			14934402	NM_016299	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	CCDS7103.1																																																																																				0.353	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299	
ITGA8	8516	broad.mit.edu	37	10	15646222	15646222	+	Silent	SNP	G	G	A	rs45604340		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:15646222G>A	ENST00000378076.3	-	20	2456	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	701					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.I701I(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTTGCGTTCGATTCCAACAT	0.378																																					p.I701I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2103T	10						.						229.0	187.0	201.0					10																	15646222		2203	4300	6503	15686228	SO:0001819	synonymous_variant	8516	exon20			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2103C>T	10.37:g.15646222G>A			15686228	NM_003638	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																				0.378	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
ITGA8	8516	broad.mit.edu	37	10	15649776	15649776	+	Missense_Mutation	SNP	C	C	T	rs140395954		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:15649776C>T	ENST00000378076.3	-	17	2017	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	555					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAAGAGCGTCCGTTTAATAGC	0.433																																					p.R555Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1664A	10						.	C	GLN/ARG	0,4406		0,0,2203	141.0	135.0	137.0		1664	5.8	0.3	10	dbSNP_134	137	1,8599		0,1,4299	no	missense	ITGA8	NM_003638.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	555/1064	15649776	1,13005	2203	4300	6503	15689782	SO:0001583	missense	8516	exon17			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1664G>A	10.37:g.15649776C>T	ENSP00000367316:p.Arg555Gln		15689782	NM_003638	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978062	0.74360	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.79940	-1.32	5.84	5.84	0.93424	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92533	0.6035	10	0.87932	D	0	.	20.1336	0.98010	0.0:1.0:0.0:0.0	.	540;555	F5H818;P53708	.;ITA8_HUMAN	Q	555;540	ENSP00000367316:R555Q	ENSP00000367316:R555Q	R	-	2	0	ITGA8	15689782	1.000000	0.71417	0.257000	0.24404	0.121000	0.20230	6.043000	0.71004	2.767000	0.95098	0.591000	0.81541	CGG		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
FAM188A	80013	broad.mit.edu	37	10	15838104	15838104	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:15838104G>A	ENST00000277632.3	-	11	1170	c.950C>T	c.(949-951)cCa>cTa	p.P317L	FAM188A_ENST00000378036.1_Missense_Mutation_p.P22L|FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	317					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.P317L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TTTACCTTCTGGGTCGTAGGT	0.358																																					p.P317L	Pancreas(159;946 1953 2111 4475 22008)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950T	10						.						135.0	145.0	141.0					10																	15838104		2203	4300	6503	15878110	SO:0001583	missense	80013	exon11			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.950C>T	10.37:g.15838104G>A	ENSP00000277632:p.Pro317Leu		15878110	NM_024948	Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280962	0.95489	.	.	ENSG00000148481	ENST00000277632;ENST00000378036;ENST00000378033;ENST00000418767	T;T	0.43294	1.47;0.95	6.08	6.08	0.98989	EF-hand-like domain (1);	0.096119	0.85682	D	0.000000	T	0.50837	0.1639	M	0.65975	2.015	0.80722	D	1	P	0.50066	0.931	P	0.45310	0.476	T	0.53781	-0.8390	10	0.66056	D	0.02	-4.9955	18.8526	0.92238	0.0:0.0:1.0:0.0	.	317	Q9H8M7	F188A_HUMAN	L	317;22;22;157	ENSP00000277632:P317L;ENSP00000388661:P157L	ENSP00000277632:P317L	P	-	2	0	FAM188A	15878110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.801000	0.91905	2.894000	0.99253	0.591000	0.81541	CCA		0.358	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948	
PTER	9317	broad.mit.edu	37	10	16526737	16526738	+	Missense_Mutation	DNP	CG	CG	TA	rs561887103		TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:16526737_16526738CG>TA	ENST00000378000.1	+	3	600_601	c.354_355CG>TA	c.(352-357)ggCGtc>ggTAtc	p.V119I	PTER_ENST00000298942.3_Missense_Mutation_p.V119I|PTER_ENST00000423462.2_Missense_Mutation_p.V119I|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000535784.2_Missense_Mutation_p.V119I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	119					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.G118>?(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAGAGACTGGCGTCCATATCAT	0.485																																					.	Ovarian(2;46 150 15648 38137 47908)											.	.	1	Complex(1)	large_intestine(1)	c.354_355TA	10						.																																			16566744	SO:0001583	missense	9317	exon3			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	Exception_encountered	10.37:g.16526737_16526738delinsTA	ENSP00000367239:p.Val119Ile		16566743	NM_001001484	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	DNP	ENST00000378000.1	37	CCDS7111.1																																																																																				0.485	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664	
CUBN	8029	broad.mit.edu	37	10	16911739	16911739	+	Missense_Mutation	SNP	C	C	T	rs184750323	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:16911739C>T	ENST00000377833.4	-	59	9415	c.9350G>A	c.(9349-9351)cGc>cAc	p.R3117H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3117	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R3117H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTTGGTGGGCGCTTGGAACC	0.498													C|||	2	0.000399361	0.0	0.0014	5008	,	,		14859	0.0		0.001	False		,,,				2504	0.0				p.R3117H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9350A	10						.						144.0	149.0	147.0					10																	16911739		2203	4300	6503	16951745	SO:0001583	missense	8029	exon59			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9350G>A	10.37:g.16911739C>T	ENSP00000367064:p.Arg3117His		16951745	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	5.412	0.261103	0.10239	.	.	ENSG00000107611	ENST00000377833	T	0.18338	2.22	5.69	-1.14	0.09741	CUB (5);	1.516350	0.04274	N	0.342609	T	0.11067	0.0270	L	0.39633	1.23	0.09310	N	1	P	0.41393	0.748	B	0.37422	0.249	T	0.16571	-1.0398	10	0.14252	T	0.57	.	1.3971	0.02263	0.4125:0.2571:0.2107:0.1197	.	3117	O60494	CUBN_HUMAN	H	3117	ENSP00000367064:R3117H	ENSP00000367064:R3117H	R	-	2	0	CUBN	16951745	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.975000	0.29449	-0.461000	0.06993	-0.355000	0.07637	CGC		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	16946039	16946039	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:16946039G>T	ENST00000377833.4	-	51	8053	c.7988C>A	c.(7987-7989)tCt>tAt	p.S2663Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2663	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S2663Y(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCATACCTGAGAATAAGGTAT	0.393																																					p.S2663Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7988A	10						.						84.0	77.0	79.0					10																	16946039		2203	4300	6503	16986045	SO:0001583	missense	8029	exon51			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7988C>A	10.37:g.16946039G>T	ENSP00000367064:p.Ser2663Tyr		16986045	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550761	0.27739	.	.	ENSG00000107611	ENST00000377833	T	0.32515	1.45	5.39	3.49	0.39957	CUB (5);	1.209910	0.06149	N	0.673837	T	0.44623	0.1302	M	0.68317	2.08	0.42961	D	0.994402	P	0.43607	0.812	B	0.44315	0.446	T	0.37454	-0.9705	10	0.62326	D	0.03	.	15.9379	0.79729	0.0:0.2562:0.7438:0.0	.	2663	O60494	CUBN_HUMAN	Y	2663	ENSP00000367064:S2663Y	ENSP00000367064:S2663Y	S	-	2	0	CUBN	16986045	0.999000	0.42202	0.089000	0.20774	0.416000	0.31233	3.660000	0.54496	0.718000	0.32166	-0.282000	0.10007	TCT		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	16990518	16990518	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:16990518C>T	ENST00000377833.4	-	35	5233	c.5168G>A	c.(5167-5169)aGt>aAt	p.S1723N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1723	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S1723N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCCCAGCACTGATGCTAGA	0.517																																					p.S1723N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5168A	10						.						86.0	73.0	77.0					10																	16990518		2203	4300	6503	17030524	SO:0001583	missense	8029	exon35			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5168G>A	10.37:g.16990518C>T	ENSP00000367064:p.Ser1723Asn		17030524	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	7.036	0.561634	0.13498	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.55	-11.1	0.00147	CUB (5);	1.553420	0.04035	N	0.302213	T	0.10337	0.0253	N	0.11364	0.135	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.29427	-1.0012	10	0.13470	T	0.59	.	16.3787	0.83431	0.0:0.293:0.605:0.102	.	1723	O60494	CUBN_HUMAN	N	1723	ENSP00000367064:S1723N	ENSP00000367064:S1723N	S	-	2	0	CUBN	17030524	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.692000	0.05127	-2.861000	0.00327	-0.793000	0.03317	AGT		0.517	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	17152965	17152965	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:17152965T>C	ENST00000377833.4	-	9	1033	c.968A>G	c.(967-969)gAg>gGg	p.E323G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	323	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.E323G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCACACACTCAACGGGTGG	0.522																																					p.E323G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A968G	10						.						87.0	82.0	84.0					10																	17152965		2203	4300	6503	17192971	SO:0001583	missense	8029	exon9			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.968A>G	10.37:g.17152965T>C	ENSP00000367064:p.Glu323Gly		17192971	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	8.631	0.893766	0.17613	.	.	ENSG00000107611	ENST00000377833	D	0.92348	-3.02	5.83	-7.64	0.01286	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	1.985910	0.02384	N	0.079030	T	0.81531	0.4842	N	0.16862	0.45	0.09310	N	1	B	0.27791	0.189	B	0.25614	0.062	T	0.73455	-0.3977	10	0.24483	T	0.36	.	5.9023	0.18974	0.0896:0.1069:0.4749:0.3287	.	323	O60494	CUBN_HUMAN	G	323	ENSP00000367064:E323G	ENSP00000367064:E323G	E	-	2	0	CUBN	17192971	0.001000	0.12720	0.000000	0.03702	0.094000	0.18550	0.449000	0.21744	-1.773000	0.01290	0.528000	0.53228	GAG		0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
TRDMT1	1787	broad.mit.edu	37	10	17210880	17210880	+	Missense_Mutation	SNP	C	C	T	rs371526424		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:17210880C>T	ENST00000377799.3	-	3	258	c.211G>A	c.(211-213)Gat>Aat	p.D71N	TRDMT1_ENST00000412821.3_Missense_Mutation_p.D71N|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.D71N|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000377766.5_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	71	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)	p.D71N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AAAATCATATCAAAAGATAAT	0.383																																					p.D71N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G211A	10						.	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	73.0	72.0	72.0		211	-6.4	0.3	10		72	0,8600		0,0,4300	no	missense	TRDMT1	NM_004412.5	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	71/392	17210880	1,13005	2203	4300	6503	17250886	SO:0001583	missense	1787	exon3			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.211G>A	10.37:g.17210880C>T	ENSP00000367030:p.Asp71Asn		17250886	NM_004412	B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	5.777	0.327737	0.10956	2.27E-4	0.0	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.95	-6.41	0.01938	.	0.358563	0.35525	N	0.003153	D	0.83585	0.5286	L	0.28556	0.865	0.80722	D	1	B;B;B	0.18166	0.008;0.026;0.007	B;B;B	0.20577	0.006;0.022;0.03	T	0.59354	-0.7470	10	0.15066	T	0.55	-5.9574	17.1956	0.86891	0.0:0.6809:0.0:0.3191	.	71;71;71	O14717-3;O14717-2;O14717	.;.;TRDMT_HUMAN	N	71;71;71;53	ENSP00000367030:D71N;ENSP00000409354:D71N;ENSP00000324328:D71N;ENSP00000431476:D53N	ENSP00000324328:D71N	D	-	1	0	TRDMT1	17250886	0.999000	0.42202	0.348000	0.25681	0.479000	0.33129	0.515000	0.22801	-1.174000	0.02754	-0.802000	0.03209	GAT		0.383	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412	
ST8SIA6	338596	broad.mit.edu	37	10	17362951	17362951	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:17362951C>A	ENST00000377602.4	-	8	1197	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	375					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.E375*(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGGCTGTATTCTTTGGGCATC	0.393																																					p.E375X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1123T	10						.						253.0	239.0	243.0					10																	17362951		2203	4300	6503	17402957	SO:0001587	stop_gained	338596	exon8				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.1123G>T	10.37:g.17362951C>A	ENSP00000366827:p.Glu375*		17402957	NM_001004470	B0YJ97|B9EH72|Q5VZH4	Nonsense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	38	6.762160	0.97821	.	.	ENSG00000148488	ENST00000377602	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.3582	19.5818	0.95469	0.0:1.0:0.0:0.0	.	.	.	.	X	375	.	ENSP00000366827:E375X	E	-	1	0	ST8SIA6	17402957	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.850000	0.98022	0.650000	0.86243	GAA		0.393	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
STAM	8027	broad.mit.edu	37	10	17742200	17742200	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:17742200G>T	ENST00000377524.3	+	9	1049	c.834G>T	c.(832-834)gaG>gaT	p.E278D	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Missense_Mutation_p.E167D	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	278					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.E278D(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TTAAAACAGAGAAGAAGACGG	0.328																																					p.E278D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G834T	10						.						110.0	101.0	104.0					10																	17742200		2203	4300	6503	17782206	SO:0001583	missense	8027	exon9			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.834G>T	10.37:g.17742200G>T	ENSP00000366746:p.Glu278Asp		17782206	NM_003473	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943659	0.53079	.	.	ENSG00000136738	ENST00000377524;ENST00000377500;ENST00000540523	T;T	0.46451	1.17;0.87	5.47	4.57	0.56435	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.37697	1.125	0.58432	D	0.999999	D	0.64830	0.994	D	0.70716	0.97	T	0.40079	-0.9582	10	0.18710	T	0.47	-25.9188	14.5197	0.67842	0.0706:0.0:0.9294:0.0	.	278	Q92783	STAM1_HUMAN	D	278;181;167	ENSP00000366746:E278D;ENSP00000438073:E167D	ENSP00000366721:E181D	E	+	3	2	STAM	17782206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.593000	0.61034	1.458000	0.47871	0.655000	0.94253	GAG		0.328	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473	
NSUN6	221078	broad.mit.edu	37	10	18940104	18940104	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:18940104C>T	ENST00000377304.4	-	1	447	c.29G>A	c.(28-30)aGa>aAa	p.R10K	RP11-139J15.7_ENST00000606425.1_Intron	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	10							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R10K(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AACCTCAGGTCTCAAAGATAT	0.338																																					p.R10K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G29A	10						.						98.0	99.0	99.0					10																	18940104		2202	4300	6502	18980110	SO:0001583	missense	221078	exon1			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.29G>A	10.37:g.18940104C>T	ENSP00000366519:p.Arg10Lys		18980110	NM_182543	B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498451	0.44455	.	.	ENSG00000241058	ENST00000377304	T	0.27890	1.64	5.32	5.32	0.75619	.	0.142745	0.64402	D	0.000007	T	0.24431	0.0592	L	0.37561	1.115	0.33726	D	0.617586	B	0.14438	0.01	B	0.10450	0.005	T	0.19811	-1.0294	10	0.27082	T	0.32	.	12.3879	0.55343	0.0:0.9175:0.0:0.0824	.	10	Q8TEA1	NSUN6_HUMAN	K	10	ENSP00000366519:R10K	ENSP00000366519:R10K	R	-	2	0	NSUN6	18980110	0.184000	0.23200	1.000000	0.80357	0.959000	0.62525	0.420000	0.21263	2.653000	0.90120	0.655000	0.94253	AGA		0.338	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543	
PLXDC2	84898	broad.mit.edu	37	10	20432300	20432300	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:20432300C>T	ENST00000377252.4	+	5	1459	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PLXDC2_ENST00000377242.3_Silent_p.F157F|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	206					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F206F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGGCAAATTTCGATCCCAGTG	0.353																																					p.F206F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	10						.						155.0	148.0	150.0					10																	20432300		2203	4300	6503	20472306	SO:0001819	synonymous_variant	84898	exon5			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.618C>T	10.37:g.20432300C>T			20472306	NM_032812	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.353	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
NEBL	10529	broad.mit.edu	37	10	21098789	21098789	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:21098789C>T	ENST00000377122.4	-	25	2953	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	853	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D853N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGATCAAGGTCGAAGATGGAG	0.388																																					p.D853N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2557A	10						.						97.0	96.0	96.0					10																	21098789		2203	4300	6503	21138795	SO:0001583	missense	10529	exon25			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2557G>A	10.37:g.21098789C>T	ENSP00000366326:p.Asp853Asn		21138795	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198155	0.94997	.	.	ENSG00000078114	ENST00000377122	T	0.14266	2.52	5.81	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	L	0.57536	1.79	0.80722	D	1	P	0.38335	0.627	B	0.34180	0.177	T	0.01670	-1.1299	10	0.54805	T	0.06	.	16.1681	0.81785	0.1343:0.8657:0.0:0.0	.	853	O76041	NEBL_HUMAN	N	853	ENSP00000366326:D853N	ENSP00000366326:D853N	D	-	1	0	NEBL	21138795	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	7.590000	0.82653	1.420000	0.47138	0.650000	0.86243	GAC		0.388	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
NEBL	10529	broad.mit.edu	37	10	21139426	21139426	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:21139426T>G	ENST00000377122.4	-	11	1410	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	338					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.K338N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTCTTTATATTTCACCTTCA	0.318																																					p.K338N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1014C	10						.						103.0	101.0	101.0					10																	21139426		2203	4300	6503	21179432	SO:0001583	missense	10529	exon11			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1014A>C	10.37:g.21139426T>G	ENSP00000366326:p.Lys338Asn		21179432	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725394	0.68959	.	.	ENSG00000078114	ENST00000377122	T	0.58506	0.33	5.63	1.71	0.24356	.	0.050318	0.85682	D	0.000000	T	0.75049	0.3797	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.74225	-0.3734	10	0.54805	T	0.06	.	7.5551	0.27819	0.0:0.3288:0.0:0.6712	.	338	O76041	NEBL_HUMAN	N	338	ENSP00000366326:K338N	ENSP00000366326:K338N	K	-	3	2	NEBL	21179432	0.933000	0.31639	1.000000	0.80357	0.946000	0.59487	-0.112000	0.10791	0.530000	0.28619	0.533000	0.62120	AAA		0.318	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
NEBL	10529	broad.mit.edu	37	10	21177028	21177028	+	Nonsense_Mutation	SNP	C	C	A	rs189440246	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:21177028C>A	ENST00000377122.4	-	4	763	c.367G>T	c.(367-369)Gag>Tag	p.E123*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Nonsense_Mutation_p.E123*	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	123					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.E123*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACCCTACCTCACTCTGGAGC	0.368																																					p.E123X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G367T	10						.						88.0	89.0	89.0					10																	21177028		2203	4300	6503	21217034	SO:0001587	stop_gained	10529	exon4			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.367G>T	10.37:g.21177028C>A	ENSP00000366326:p.Glu123*		21217034	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	39	7.436801	0.98282	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	.	.	.	5.94	4.08	0.47627	.	0.230179	0.44483	D	0.000448	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.0247	0.42063	0.0:0.7562:0.0:0.2438	.	.	.	.	X	123;123;107	.	ENSP00000366323:E123X	E	-	1	0	NEBL	21217034	0.998000	0.40836	1.000000	0.80357	0.776000	0.43924	0.547000	0.23299	1.516000	0.48900	0.557000	0.71058	GAG		0.368	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
SKIDA1	387640	broad.mit.edu	37	10	21804489	21804489	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:21804489G>T	ENST00000449193.2	-	4	4515	c.2263C>A	c.(2263-2265)Cag>Aag	p.Q755K	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q676K	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	674						nucleus (GO:0005634)		p.Q755K(2)									GAAAGGCCCTGACTTTGAGCC	0.453																																					p.Q755K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2263A	10						.						158.0	151.0	153.0					10																	21804489		1856	4092	5948	21844495	SO:0001583	missense	387640	exon4			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2263C>A	10.37:g.21804489G>T	ENSP00000410041:p.Gln755Lys		21844495	NM_207371	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472728	0.43942	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.87	4.97	0.65823	.	0.514051	0.20016	N	0.101013	T	0.36138	0.0956	L	0.27053	0.805	0.28605	N	0.908978	B	0.27229	0.172	B	0.18871	0.023	T	0.35025	-0.9805	9	0.59425	D	0.04	-12.5016	14.4654	0.67480	0.0702:0.0:0.9297:0.0	.	755	E9PAX1	.	K	755;676	.	ENSP00000442432:Q676K	Q	-	1	0	C10orf140	21844495	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.997000	0.57016	1.634000	0.50500	0.655000	0.94253	CAG		0.453	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371	
MLLT10	8028	broad.mit.edu	37	10	21845663	21845663	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:21845663G>A	ENST00000307729.7	+	3	418				MLLT10_ENST00000377072.3_Intron|MLLT10_ENST00000495130.1_Intron|MLLT10_ENST00000377100.3_Missense_Mutation_p.R111Q|MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377059.3_Intron|MLLT10_ENST00000377091.2_3'UTR			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R111Q(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ccccacccccgatgcctggtg	0.488			T	"""MLL, PICALM, CDK6"""	AL																																p.R111Q			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	10						.						39.0	34.0	36.0					10																	21845663		876	1991	2867	21885669	SO:0001627	intron_variant	8028	exon4			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.240+17822G>A	10.37:g.21845663G>A			21885669	NM_001195630	B1ANA8|Q5JT37|Q5VX90|Q66K63	Intron	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	8.817	0.936719	0.18206	.	.	ENSG00000078403	ENST00000377100	T	0.46063	0.88	2.38	-4.75	0.03239	.	.	.	.	.	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	P	0.38800	0.648	B	0.23852	0.049	T	0.11966	-1.0566	9	0.52906	T	0.07	.	5.5301	0.16980	0.576:0.1604:0.2636:0.0	.	111	B1ANA8	.	Q	111	ENSP00000366304:R111Q	ENSP00000366304:R111Q	R	+	2	0	MLLT10	21885669	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.999000	0.03697	-1.466000	0.01897	-0.219000	0.12488	CGA		0.488	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		
SPAG6	9576	broad.mit.edu	37	10	22676871	22676871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:22676871C>A	ENST00000376624.3	+	6	940	c.798C>A	c.(796-798)taC>taA	p.Y266*	SPAG6_ENST00000538630.1_Nonsense_Mutation_p.Y241*|SPAG6_ENST00000376603.2_Nonsense_Mutation_p.Y342*|SPAG6_ENST00000376601.1_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Nonsense_Mutation_p.Y266*	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	266					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Y266*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGGATGAATACGTGAAGAAAA	0.368																																					p.Y266X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C798A	10						.						77.0	77.0	77.0					10																	22676871		2203	4300	6503	22716877	SO:0001587	stop_gained	9576	exon6			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.798C>A	10.37:g.22676871C>A	ENSP00000365811:p.Tyr266*		22716877	NM_012443	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Nonsense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330026	0.95733	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	.	.	.	5.64	-6.05	0.02172	.	0.282033	0.41500	D	0.000870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8741	18.0914	0.89476	0.0:0.1565:0.0:0.8435	.	.	.	.	X	266;342;241;266	.	ENSP00000323599:Y266X	Y	+	3	2	SPAG6	22716877	0.013000	0.17824	0.026000	0.17262	0.995000	0.86356	-1.111000	0.03303	-1.045000	0.03250	-0.136000	0.14681	TAC		0.368	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
ARMC3	219681	broad.mit.edu	37	10	23250825	23250825	+	Nonsense_Mutation	SNP	C	C	T	rs201134940		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:23250825C>T	ENST00000298032.5	+	7	634	c.550C>T	c.(550-552)Cga>Tga	p.R184*	ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R184*|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R184*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	184						extracellular vesicular exosome (GO:0070062)		p.R184*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTTCAGTGTCGAGCTAAACT	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		16235	0.001		0.0	False		,,,				2504	0.0				p.R184X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C550T	10						.						71.0	70.0	70.0					10																	23250825		2203	4299	6502	23290831	SO:0001587	stop_gained	219681	exon7			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.550C>T	10.37:g.23250825C>T	ENSP00000298032:p.Arg184*		23290831	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.98	3.271497	0.59649	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000447081	.	.	.	5.73	4.83	0.62350	.	0.122763	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.5531	16.2556	0.82516	0.1338:0.8661:0.0:0.0	.	.	.	.	X	184;184;184;96	.	ENSP00000298032:R184X	R	+	1	2	ARMC3	23290831	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	2.230000	0.42999	1.423000	0.47198	-0.158000	0.13435	CGA		0.343	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ARMC3	219681	broad.mit.edu	37	10	23292194	23292194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:23292194G>T	ENST00000298032.5	+	13	1666	c.1582G>T	c.(1582-1584)Gaa>Taa	p.E528*	ARMC3_ENST00000409049.3_Nonsense_Mutation_p.E528*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.E265*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.E528*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	528						extracellular vesicular exosome (GO:0070062)		p.E528*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATCCTTGAAGAAGTTAACGT	0.363																																					p.E528X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1582T	10						.						79.0	79.0	79.0					10																	23292194		2203	4300	6503	23332200	SO:0001587	stop_gained	219681	exon13			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1582G>T	10.37:g.23292194G>T	ENSP00000298032:p.Glu528*		23332200	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	38	6.927127	0.97940	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	.	.	.	5.53	5.53	0.82687	.	0.117086	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.811	19.4481	0.94855	0.0:0.0:1.0:0.0	.	.	.	.	X	528;528;464;528;265	.	ENSP00000298032:E528X	E	+	1	0	ARMC3	23332200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.155000	0.64900	2.590000	0.87494	0.563000	0.77884	GAA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
MSRB2	22921	broad.mit.edu	37	10	23393122	23393122	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:23393122G>T	ENST00000376510.3	+	2	271	c.168G>T	c.(166-168)aaG>aaT	p.K56N		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	56					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K56N(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AGTGGCAAAAGAAACTAACCC	0.433																																					p.K56N	Esophageal Squamous(89;1240 1363 4973 30188 42299)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G168T	10						.						83.0	81.0	81.0					10																	23393122		1902	4126	6028	23433128	SO:0001583	missense	22921	exon2			AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.168G>T	10.37:g.23393122G>T	ENSP00000365693:p.Lys56Asn		23433128	NM_012228	Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909044	0.72868	.	.	ENSG00000148450	ENST00000376510	T	0.77358	-1.09	4.69	3.78	0.43462	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.215316	0.46442	D	0.000299	T	0.78470	0.4288	L	0.49256	1.55	0.41931	D	0.990565	P	0.40638	0.725	P	0.50270	0.636	T	0.79242	-0.1884	10	0.66056	D	0.02	-13.2929	9.2481	0.37539	0.1041:0.0:0.8959:0.0	.	56	Q9Y3D2	MSRB2_HUMAN	N	56	ENSP00000365693:K56N	ENSP00000365693:K56N	K	+	3	2	MSRB2	23433128	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.784000	0.38674	1.280000	0.44463	0.557000	0.71058	AAG		0.433	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228	
KIAA1217	56243	broad.mit.edu	37	10	24762473	24762473	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:24762473G>T	ENST00000376454.3	+	6	1193	c.1163G>T	c.(1162-1164)aGa>aTa	p.R388I	KIAA1217_ENST00000376452.3_Missense_Mutation_p.R388I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R106I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R388I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R106I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R106I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R106I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R308I|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R309I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	388					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R388I(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GCAATGTACAGAAATGAGGGT	0.493																																					p.R388I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163T	10						.						119.0	113.0	115.0					10																	24762473		2203	4300	6503	24802479	SO:0001583	missense	56243	exon6			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1163G>T	10.37:g.24762473G>T	ENSP00000365637:p.Arg388Ile		24802479	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505996	0.85282	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.981;0.998;0.988;0.999;0.999;0.998;0.952	T	0.78677	-0.2111	10	0.87932	D	0	.	19.4826	0.95016	0.0:0.0:1.0:0.0	.	388;388;106;106;106;106;388;388	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	308;388;388;106;388;388;238;309;106;106;106;106;106	ENSP00000365645:R308I;ENSP00000365639:R388I;ENSP00000392625:R388I;ENSP00000365637:R388I;ENSP00000365635:R388I;ENSP00000404798:R238I;ENSP00000389680:R309I;ENSP00000302343:R106I;ENSP00000379722:R106I;ENSP00000365634:R106I;ENSP00000379723:R106I	ENSP00000302343:R106I	R	+	2	0	KIAA1217	24802479	0.997000	0.39634	0.926000	0.36857	0.914000	0.54420	6.851000	0.75425	2.622000	0.88805	0.655000	0.94253	AGA		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
ARHGAP21	57584	broad.mit.edu	37	10	24886893	24886893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:24886893C>A	ENST00000396432.2	-	15	3664	c.3178G>T	c.(3178-3180)Gaa>Taa	p.E1060*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.E847*|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1059	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.E1059*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTTGTATTCTTTTATTCTT	0.343																																					p.E1060X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3178T	10						.						194.0	183.0	187.0					10																	24886893		2203	4300	6503	24926899	SO:0001587	stop_gained	57584	exon15			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3178G>T	10.37:g.24886893C>A	ENSP00000379709:p.Glu1060*		24926899	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Nonsense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	46	12.125345	0.99638	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	1060;847;1050;1060;895	.	ENSP00000365604:E847X	E	-	1	0	ARHGAP21	24926899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.941000	0.99782	0.655000	0.94253	GAA		0.343	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ARHGAP21	57584	broad.mit.edu	37	10	24889580	24889580	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:24889580C>T	ENST00000396432.2	-	14	3613	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E830K|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1042	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.E1042K(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCCACCTCTTCGTTTAGGTTG	0.413																																					p.E1043K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3127A	10						.						118.0	114.0	115.0					10																	24889580		2203	4300	6503	24929586	SO:0001583	missense	57584	exon14			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3127G>A	10.37:g.24889580C>T	ENSP00000379709:p.Glu1043Lys		24929586	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340372	0.60963	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.17	6.17	0.99709	Pleckstrin homology-type (1);	0.091745	0.64402	D	0.000001	T	0.69762	0.3147	L	0.39898	1.24	0.53688	D	0.99997	P;P	0.51537	0.889;0.946	B;B	0.42625	0.291;0.393	T	0.66106	-0.6006	10	0.15066	T	0.55	.	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	1033;1042	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	1043;830;1033;1043;878	ENSP00000379709:E1043K;ENSP00000365604:E830K;ENSP00000365592:E1033K;ENSP00000405018:E1043K	ENSP00000365604:E830K	E	-	1	0	ARHGAP21	24929586	0.995000	0.38212	0.360000	0.25837	0.601000	0.36947	3.989000	0.56958	2.941000	0.99782	0.655000	0.94253	GAA		0.413	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ARHGAP21	57584	broad.mit.edu	37	10	24908904	24908904	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:24908904C>A	ENST00000396432.2	-	9	2406	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q427H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	639					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.Q639H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAAATGATTTCTGGCTAAATG	0.448																																					p.Q640H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1920T	10						.						130.0	122.0	124.0					10																	24908904		2203	4300	6503	24948910	SO:0001583	missense	57584	exon9			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1920G>T	10.37:g.24908904C>A	ENSP00000379709:p.Gln640His		24948910	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745145	0.49151	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.46063	2.83;2.93;0.88;0.89	5.36	4.43	0.53597	.	0.741088	0.13134	N	0.411228	T	0.57961	0.2089	M	0.63428	1.95	0.27605	N	0.948844	D;D	0.56287	0.975;0.958	P;P	0.57152	0.814;0.656	T	0.53704	-0.8401	10	0.44086	T	0.13	.	16.1486	0.81594	0.0:0.8662:0.1338:0.0	.	630;639	F8W9U9;Q5T5U3	.;RHG21_HUMAN	H	640;427;630;640;475	ENSP00000379709:Q640H;ENSP00000365604:Q427H;ENSP00000365592:Q630H;ENSP00000405018:Q640H	ENSP00000365604:Q427H	Q	-	3	2	ARHGAP21	24948910	1.000000	0.71417	0.976000	0.42696	0.943000	0.58893	1.884000	0.39668	1.342000	0.45619	0.655000	0.94253	CAG		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
ARHGAP21	57584	broad.mit.edu	37	10	24909349	24909349	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:24909349C>A	ENST00000396432.2	-	9	1961	c.1475G>T	c.(1474-1476)aGa>aTa	p.R492I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R279I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	491					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R491I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGAACGAGTTCTATGATTACT	0.393																																					p.R492I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1475T	10						.						26.0	27.0	27.0					10																	24909349		2124	4238	6362	24949355	SO:0001583	missense	57584	exon9			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1475G>T	10.37:g.24909349C>A	ENSP00000379709:p.Arg492Ile		24949355	NM_020824	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462658	0.84425	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.72394	1.38;1.15;-0.65;-0.65	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.991	D	0.85983	0.1484	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	482;491	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	492;481;279;482;492;327	ENSP00000379709:R492I;ENSP00000365604:R279I;ENSP00000365592:R482I;ENSP00000405018:R492I	ENSP00000365604:R279I	R	-	2	0	ARHGAP21	24949355	0.985000	0.35326	0.111000	0.21465	0.991000	0.79684	5.070000	0.64376	2.880000	0.98712	0.650000	0.86243	AGA		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824	
PRTFDC1	56952	broad.mit.edu	37	10	25226159	25226159	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25226159C>T	ENST00000320152.6	-	3	321	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R98Q|PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R98Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	98					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.R98Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TGAGACAAATCGATCTGAATT	0.368																																					p.R98Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293A	10						.						113.0	107.0	109.0					10																	25226159		2203	4300	6503	25266165	SO:0001583	missense	56952	exon3			AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.293G>A	10.37:g.25226159C>T	ENSP00000318602:p.Arg98Gln		25266165	NM_020200	B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008082	0.35415	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378;ENST00000376376	D;D;D	0.99683	-5.75;-5.75;-6.39	5.63	-0.153	0.13403	Phosphoribosyltransferase (1);	0.436518	0.22644	N	0.057404	D	0.97371	0.9140	N	0.16903	0.455	0.09310	N	1	B;B	0.20164	0.042;0.012	B;B	0.08055	0.003;0.001	D	0.95943	0.8948	10	0.22109	T	0.4	.	9.0019	0.36088	0.0:0.5996:0.2121:0.1883	.	98;98	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	Q	98	ENSP00000318602:R98Q;ENSP00000365558:R98Q;ENSP00000365556:R98Q	ENSP00000318602:R98Q	R	-	2	0	PRTFDC1	25266165	0.006000	0.16342	0.087000	0.20705	0.982000	0.71751	0.078000	0.14761	0.039000	0.15632	0.655000	0.94253	CGA		0.368	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200	
ENKUR	219670	broad.mit.edu	37	10	25279466	25279466	+	Missense_Mutation	SNP	G	G	T	rs372214436		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25279466G>T	ENST00000331161.4	-	4	739	c.520C>A	c.(520-522)Cgt>Agt	p.R174S	ENKUR_ENST00000376363.1_Missense_Mutation_p.R174S	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	174	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)		p.R174S(1)		endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGGATATAACGATCATAGTCT	0.378																																					p.R174S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520A	10						.						189.0	167.0	174.0					10																	25279466		2203	4300	6503	25319472	SO:0001583	missense	219670	exon4			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.520C>A	10.37:g.25279466G>T	ENSP00000331044:p.Arg174Ser		25319472	NM_145010	A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.377334	0.01204	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.64	-0.737	0.11129	.	0.879386	0.10389	N	0.680669	T	0.08447	0.0210	N	0.01874	-0.695	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.14023	0.01;0.006	T	0.34925	-0.9809	9	0.09590	T	0.72	-14.9871	2.6171	0.04907	0.095:0.1847:0.1896:0.5307	.	174;174	Q5VV23;Q8TC29	.;ENKUR_HUMAN	S	174	.	ENSP00000331044:R174S	R	-	1	0	ENKUR	25319472	0.002000	0.14202	0.010000	0.14722	0.109000	0.19521	0.208000	0.17415	-0.127000	0.11661	-0.261000	0.10672	CGT		0.378	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010	
THNSL1	79896	broad.mit.edu	37	10	25313614	25313614	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25313614C>A	ENST00000524413.1	+	3	1809	c.1462C>A	c.(1462-1464)Ctt>Att	p.L488I	THNSL1_ENST00000376356.4_Missense_Mutation_p.L488I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	488						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L488I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TTCCGCATATCTTGATCTTGT	0.418																																					p.L488I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1462A	10						.						83.0	83.0	83.0					10																	25313614		2203	4300	6503	25353620	SO:0001583	missense	79896	exon3			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1462C>A	10.37:g.25313614C>A	ENSP00000434887:p.Leu488Ile		25353620	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001898	0.54254	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.97114	-4.25;-4.25	5.58	5.58	0.84498	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.98191	0.9402	M	0.67517	2.055	0.47994	D	0.99956	D	0.89917	1.0	D	0.79784	0.993	D	0.98725	1.0710	10	0.59425	D	0.04	-28.956	19.5829	0.95475	0.0:1.0:0.0:0.0	.	488	Q8IYQ7	THNS1_HUMAN	I	488	ENSP00000434887:L488I;ENSP00000365534:L488I	ENSP00000365534:L488I	L	+	1	0	THNSL1	25353620	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.280000	0.58959	2.636000	0.89361	0.561000	0.74099	CTT		0.418	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
GPR158	57512	broad.mit.edu	37	10	25861759	25861759	+	Missense_Mutation	SNP	G	G	A	rs144380617		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25861759G>A	ENST00000376351.3	+	7	2055	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	566					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D566N(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAACATCCGATCACCTCAT	0.428																																					p.D566N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1696A	10						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	182.0	137.0	152.0		1696	5.7	1.0	10	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	566/1216	25861759	2,13004	2203	4300	6503	25901765	SO:0001583	missense	57512	exon7			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1696G>A	10.37:g.25861759G>A	ENSP00000365529:p.Asp566Asn		25901765	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496089	0.85069	2.27E-4	1.16E-4	ENSG00000151025	ENST00000376351	D	0.87334	-2.24	5.67	5.67	0.87782	GPCR, family 3, C-terminal (2);	0.307372	0.31760	N	0.007115	D	0.84179	0.5415	L	0.34521	1.04	0.80722	D	1	P	0.37731	0.607	B	0.39971	0.315	T	0.82589	-0.0382	10	0.35671	T	0.21	.	19.7579	0.96301	0.0:0.0:1.0:0.0	.	566	Q5T848	GP158_HUMAN	N	566	ENSP00000365529:D566N	ENSP00000365529:D566N	D	+	1	0	GPR158	25901765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.972000	0.88022	2.677000	0.91161	0.557000	0.71058	GAT		0.428	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25885617	25885617	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25885617G>T	ENST00000376351.3	+	10	2403	c.2044G>T	c.(2044-2046)Gca>Tca	p.A682S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	682					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A682S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGCTACAGAAGCATATGAGGA	0.443																																					p.A682S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2044T	10						.						142.0	112.0	122.0					10																	25885617		2203	4300	6503	25925623	SO:0001583	missense	57512	exon10			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2044G>T	10.37:g.25885617G>T	ENSP00000365529:p.Ala682Ser		25925623	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390719	0.95988	.	.	ENSG00000151025	ENST00000376351	T	0.62232	0.04	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	T	0.77294	0.4109	L	0.58101	1.795	0.80722	D	1	D	0.65815	0.995	D	0.67103	0.949	T	0.73588	-0.3935	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	682	Q5T848	GP158_HUMAN	S	682	ENSP00000365529:A682S	ENSP00000365529:A682S	A	+	1	0	GPR158	25925623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GCA		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25886744	25886744	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:25886744G>T	ENST00000376351.3	+	11	2548	c.2189G>T	c.(2188-2190)aGa>aTa	p.R730I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	730					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R730I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATATATAAAAGAAAGAAGATG	0.433																																					p.R730I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2189T	10						.						86.0	99.0	95.0					10																	25886744		2203	4300	6503	25926750	SO:0001583	missense	57512	exon11			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2189G>T	10.37:g.25886744G>T	ENSP00000365529:p.Arg730Ile		25926750	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626606	0.66901	.	.	ENSG00000151025	ENST00000376351	T	0.61274	0.12	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.69233	0.3088	L	0.55481	1.735	0.80722	D	1	D	0.59357	0.985	P	0.58520	0.84	T	0.66716	-0.5853	10	0.37606	T	0.19	.	19.1925	0.93672	0.0:0.0:1.0:0.0	.	730	Q5T848	GP158_HUMAN	I	730	ENSP00000365529:R730I	ENSP00000365529:R730I	R	+	2	0	GPR158	25926750	1.000000	0.71417	0.999000	0.59377	0.005000	0.04900	9.476000	0.97823	2.537000	0.85549	0.557000	0.71058	AGA		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu	37	10	26315388	26315388	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26315388G>T	ENST00000265944.5	+	10	1046	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	MYO3A_ENST00000543632.1_Missense_Mutation_p.D294Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	294					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D294Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAGGGCAAAGATGTGATGCT	0.378																																					p.D294Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880T	10						.						91.0	85.0	87.0					10																	26315388		2203	4300	6503	26355394	SO:0001583	missense	53904	exon10			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.880G>T	10.37:g.26315388G>T	ENSP00000265944:p.Asp294Tyr		26355394	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049193	0.75846	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.13778	2.56;2.56	5.76	4.85	0.62838	Protein kinase-like domain (1);	0.133664	0.64402	D	0.000002	T	0.30854	0.0778	M	0.66939	2.045	0.51012	D	0.999905	D;D;D	0.61080	0.989;0.981;0.966	P;P;P	0.59546	0.859;0.726;0.702	T	0.03514	-1.1029	10	0.62326	D	0.03	.	13.1666	0.59575	0.0737:0.0:0.9263:0.0	.	294;294;294	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	Y	294	ENSP00000265944:D294Y;ENSP00000445909:D294Y	ENSP00000265944:D294Y	D	+	1	0	MYO3A	26355394	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.116000	0.77119	1.569000	0.49696	0.655000	0.94253	GAT		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26357736	26357736	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26357736G>T	ENST00000265944.5	+	12	1259	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	MYO3A_ENST00000543632.1_Missense_Mutation_p.D365Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	365	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D365Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTATTCCAGAGATCAGATCTA	0.363																																					p.D365Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1093T	10						.						143.0	124.0	131.0					10																	26357736		2203	4300	6503	26397742	SO:0001583	missense	53904	exon12			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1093G>T	10.37:g.26357736G>T	ENSP00000265944:p.Asp365Tyr		26397742	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497815	0.64186	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;D	0.88277	-0.76;-2.36	5.55	5.55	0.83447	Myosin head, motor domain (2);	0.045895	0.85682	D	0.000000	D	0.95535	0.8549	M	0.90019	3.08	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.74348	0.974;0.983;0.942	D	0.94926	0.8078	10	0.41790	T	0.15	.	19.4992	0.95086	0.0:0.0:1.0:0.0	.	365;365;365	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	Y	365	ENSP00000265944:D365Y;ENSP00000445909:D365Y	ENSP00000265944:D365Y	D	+	1	0	MYO3A	26397742	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.390000	0.44416	2.598000	0.87819	0.655000	0.94253	GAT		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26377271	26377271	+	Missense_Mutation	SNP	C	C	T	rs138526349	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26377271C>T	ENST00000265944.5	+	15	1665	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	MYO3A_ENST00000543632.1_Missense_Mutation_p.A500V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	500	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A500V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTTCTGGAGCGGTAGTGGGA	0.378																																					p.A500V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1499T	10						.	C	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	68.0	70.0	69.0		1499	4.4	1.0	10	dbSNP_134	69	0,8600		0,0,4300	no	missense	MYO3A	NM_017433.4	64	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	500/1617	26377271	3,13003	2203	4300	6503	26417277	SO:0001583	missense	53904	exon15			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1499C>T	10.37:g.26377271C>T	ENSP00000265944:p.Ala500Val		26417277	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287156	0.40494	6.81E-4	0.0	ENSG00000095777	ENST00000265944;ENST00000543632	D;D	0.87491	-2.26;-2.26	5.54	4.41	0.53225	Myosin head, motor domain (2);	0.198431	0.52532	D	0.000062	T	0.75228	0.3821	N	0.17594	0.5	0.35804	D	0.82337	B;B;B	0.31519	0.067;0.083;0.327	B;B;B	0.24394	0.015;0.023;0.053	T	0.78026	-0.2365	10	0.33141	T	0.24	.	13.0709	0.59061	0.0:0.8908:0.0:0.1092	.	500;500;500	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	V	500	ENSP00000265944:A500V;ENSP00000445909:A500V	ENSP00000265944:A500V	A	+	2	0	MYO3A	26417277	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.910000	0.63321	2.779000	0.95612	0.655000	0.94253	GCG		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26414413	26414413	+	Nonsense_Mutation	SNP	C	C	T	rs370314254		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26414413C>T	ENST00000265944.5	+	19	2156	c.1990C>T	c.(1990-1992)Cga>Tga	p.R664*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R664*(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACAATTATACGACCCAATAC	0.418																																					p.R664X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1990T	10						.						116.0	112.0	113.0					10																	26414413		2203	4300	6503	26454419	SO:0001587	stop_gained	53904	exon19			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1990C>T	10.37:g.26414413C>T	ENSP00000265944:p.Arg664*		26454419	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	41	8.593374	0.98877	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.91	4.99	0.66335	.	0.051882	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3079	0.82855	0.1334:0.8666:0.0:0.0	.	.	.	.	X	664	.	ENSP00000265944:R664X	R	+	1	2	MYO3A	26454419	0.998000	0.40836	0.995000	0.50966	0.991000	0.79684	2.896000	0.48656	1.461000	0.47929	0.585000	0.79938	CGA		0.418	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363																																					p.R984X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C2950T	10						.						113.0	110.0	111.0					10																	26446395		2203	4300	6503	26486401	SO:0001587	stop_gained	53904	exon26			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2950C>T	10.37:g.26446395C>T	ENSP00000265944:p.Arg984*		26486401	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671764	0.99234	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8211	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000265944:R984X	R	+	1	2	MYO3A	26486401	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.524000	0.85096	0.655000	0.94253	CGA		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26457736	26457736	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26457736C>A	ENST00000265944.5	+	28	3373	c.3207C>A	c.(3205-3207)ttC>ttA	p.F1069L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1069	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F1069L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAGAGCATTCTTGTGTTCAA	0.343																																					p.F1069L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3207A	10						.						122.0	124.0	124.0					10																	26457736		2203	4300	6503	26497742	SO:0001583	missense	53904	exon28			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3207C>A	10.37:g.26457736C>A	ENSP00000265944:p.Phe1069Leu		26497742	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468878	0.63625	.	.	ENSG00000095777	ENST00000265944	T	0.71817	-0.6	5.63	4.73	0.59995	.	0.109911	0.64402	D	0.000003	T	0.61899	0.2384	L	0.47716	1.5	0.80722	D	1	B	0.32051	0.354	B	0.32465	0.146	T	0.60110	-0.7327	10	0.35671	T	0.21	.	9.6809	0.40070	0.0:0.6751:0.2453:0.0795	.	1069	Q8NEV4	MYO3A_HUMAN	L	1069	ENSP00000265944:F1069L	ENSP00000265944:F1069L	F	+	3	2	MYO3A	26497742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	1.509000	0.48786	0.655000	0.94253	TTC		0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26465714	26465714	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26465714C>A	ENST00000265944.5	+	31	4544	c.4378C>A	c.(4378-4380)Ctg>Atg	p.L1460M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1460					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1460M(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCACTTTATCTGGGTGTCTC	0.363																																					p.L1460M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4378A	10						.						89.0	84.0	86.0					10																	26465714		2203	4300	6503	26505720	SO:0001583	missense	53904	exon31			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4378C>A	10.37:g.26465714C>A	ENSP00000265944:p.Leu1460Met		26505720	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003476	0.19121	.	.	ENSG00000095777	ENST00000265944	T	0.77620	-1.11	5.91	4.06	0.47325	.	0.597412	0.17528	N	0.170966	T	0.67392	0.2888	L	0.39898	1.24	0.09310	N	0.999992	B	0.20780	0.048	B	0.15870	0.014	T	0.54470	-0.8289	10	0.31617	T	0.26	.	9.6582	0.39939	0.0:0.59:0.3345:0.0755	.	1460	Q8NEV4	MYO3A_HUMAN	M	1460	ENSP00000265944:L1460M	ENSP00000265944:L1460M	L	+	1	2	MYO3A	26505720	0.336000	0.24757	0.510000	0.27712	0.921000	0.55340	1.047000	0.30367	0.837000	0.34925	-0.172000	0.13284	CTG		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
GAD2	2572	broad.mit.edu	37	10	26569984	26569984	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26569984T>C	ENST00000376261.3	+	12	1707	c.1204T>C	c.(1204-1206)Ttg>Ctg	p.L402L	GAD2_ENST00000259271.3_Silent_p.L402L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	402					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.L402L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGAGTCCCTTTGCAGTGCTC	0.512																																					p.L402L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1204C	10						.						197.0	174.0	182.0					10																	26569984		2203	4300	6503	26609990	SO:0001819	synonymous_variant	2572	exon12			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1204T>C	10.37:g.26569984T>C			26609990	NM_001134366	Q9UD87	Silent	SNP	ENST00000376261.3	37	CCDS7149.1																																																																																				0.512	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818	
APBB1IP	54518	broad.mit.edu	37	10	26789770	26789770	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:26789770C>T	ENST00000376236.4	+	5	638	c.183C>T	c.(181-183)gaC>gaT	p.D61D	APBB1IP_ENST00000356785.4_Silent_p.D61D	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	61					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.D61D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CACTGGAAGACCAAGATTTAG	0.393																																					p.D61D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	10						.						90.0	87.0	88.0					10																	26789770		2203	4300	6503	26829776	SO:0001819	synonymous_variant	54518	exon5			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.183C>T	10.37:g.26789770C>T			26829776	NM_019043	Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	CCDS31167.1																																																																																				0.393	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
PDSS1	23590	broad.mit.edu	37	10	27009245	27009245	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27009245G>A	ENST00000376215.5	+	6	619	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	RP13-16H11.5_ENST00000458171.1_RNA|PDSS1_ENST00000376203.5_Missense_Mutation_p.R189Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	189					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.R189Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GCAAGTTCTCGAAGAGGAAAA	0.423																																					p.R189Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	10						.						115.0	110.0	111.0					10																	27009245		2203	4300	6503	27049251	SO:0001583	missense	23590	exon6			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.566G>A	10.37:g.27009245G>A	ENSP00000365388:p.Arg189Gln		27049251	NM_014317	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	35	5.489682	0.96323	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D;D	0.89050	-2.46;-2.46	5.65	5.65	0.86999	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	H	0.99789	4.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99257	1.0889	10	0.87932	D	0	-7.3225	19.716	0.96121	0.0:0.0:1.0:0.0	.	189;189	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Q	189;189;150	ENSP00000365388:R189Q;ENSP00000365376:R189Q	ENSP00000365376:R189Q	R	+	2	0	PDSS1	27049251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.681000	0.91329	0.591000	0.81541	CGA		0.423	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		
ABI1	10006	broad.mit.edu	37	10	27048111	27048111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27048111G>A	ENST00000376142.2	-	9	1029	c.958C>T	c.(958-960)Cga>Tga	p.R320*	ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376140.3_Nonsense_Mutation_p.R293*|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000346832.5_Nonsense_Mutation_p.R337*|ABI1_ENST00000376170.4_Nonsense_Mutation_p.R292*|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376166.1_Nonsense_Mutation_p.R287*|ABI1_ENST00000376160.1_Nonsense_Mutation_p.R287*|ABI1_ENST00000376139.2_Nonsense_Mutation_p.R288*|ABI1_ENST00000376134.3_Nonsense_Mutation_p.R294*|ABI1_ENST00000376138.3_Nonsense_Mutation_p.R293*|ABI1_ENST00000355394.4_Nonsense_Mutation_p.R321*|ABI1_ENST00000359188.4_Nonsense_Mutation_p.R292*	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	320	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)	p.R320*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGTTGTGTCGAGATATCTGC	0.493																																					p.R293X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C877T	10						.						154.0	138.0	144.0					10																	27048111		2203	4300	6503	27088117	SO:0001587	stop_gained	10006	exon8			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.958C>T	10.37:g.27048111G>A	ENSP00000365312:p.Arg320*		27088117	NM_001012751	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Nonsense_Mutation	SNP	ENST00000376142.2	37	CCDS7150.1	.	.	.	.	.	.	.	.	.	.	G	38	6.978923	0.97979	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5914	19.4511	0.94867	0.0:0.0:1.0:0.0	.	.	.	.	X	293;292;287;287;320;292;288;321;337;294;293	.	ENSP00000279599:R337X	R	-	1	2	ABI1	27088117	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.849000	0.86908	2.599000	0.87857	0.591000	0.81541	CGA		0.493	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	
ANKRD26	22852	broad.mit.edu	37	10	27326130	27326130	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27326130C>A	ENST00000376087.4	-	23	2847	c.2682G>T	c.(2680-2682)aaG>aaT	p.K894N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K910N|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K451N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	893					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.K894N(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATTCATTTTCTTTTGAGCCA	0.313																																					p.K894N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2682T	10						.						110.0	98.0	102.0					10																	27326130		1824	4071	5895	27366136	SO:0001583	missense	22852	exon23			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2682G>T	10.37:g.27326130C>A	ENSP00000365255:p.Lys894Asn		27366136	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424411	0.25639	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.35421	3.82;1.31;1.33	5.34	-0.496	0.12027	.	0.762215	0.10577	U	0.658366	T	0.39279	0.1072	M	0.63843	1.955	0.09310	N	1	P;P;B	0.50272	0.933;0.89;0.079	P;P;B	0.51324	0.666;0.466;0.044	T	0.24368	-1.0162	10	0.41790	T	0.15	.	3.4021	0.07327	0.1824:0.3675:0.0:0.4501	.	894;893;910	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	N	451;894;910	ENSP00000365238:K451N;ENSP00000365255:K894N;ENSP00000405112:K910N	ENSP00000365238:K451N	K	-	3	2	ANKRD26	27366136	0.045000	0.20229	0.000000	0.03702	0.299000	0.27559	-0.122000	0.10627	0.013000	0.14918	-0.991000	0.02546	AAG		0.313	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27326956	27326956	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27326956C>A	ENST00000376087.4	-	22	2568	c.2403G>T	c.(2401-2403)aaG>aaT	p.K801N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K817N|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K358N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	800					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.K801N(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATTTCTTCTCTTCTCTTCTT	0.308																																					p.K801N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2403T	10						.						117.0	101.0	106.0					10																	27326956		1819	4072	5891	27366962	SO:0001583	missense	22852	exon22			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2403G>T	10.37:g.27326956C>A	ENSP00000365255:p.Lys801Asn		27366962	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220605	0.58560	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.18657	2.2;2.2;2.2	5.15	0.678	0.17969	.	0.102807	0.39544	N	0.001330	T	0.30479	0.0766	L	0.48642	1.525	0.41360	D	0.987421	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.976;0.946;0.994	T	0.07868	-1.0750	10	0.87932	D	0	.	3.9144	0.09216	0.1582:0.4435:0.0:0.3984	.	801;800;817	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	N	358;801;817	ENSP00000365238:K358N;ENSP00000365255:K801N;ENSP00000405112:K817N	ENSP00000365238:K358N	K	-	3	2	ANKRD26	27366962	0.984000	0.35163	0.973000	0.42090	0.988000	0.76386	0.126000	0.15769	-0.077000	0.12752	0.585000	0.79938	AAG		0.308	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27328955	27328955	+	Nonsense_Mutation	SNP	C	C	A	rs568696333	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27328955C>A	ENST00000376087.4	-	21	2479	c.2314G>T	c.(2314-2316)Gaa>Taa	p.E772*	ANKRD26_ENST00000436985.2_Nonsense_Mutation_p.E788*|ANKRD26_ENST00000376070.3_Nonsense_Mutation_p.E329*	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	771					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E772*(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GATTTTATTTCTTTTGTTTCA	0.299																																					p.E772X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2314T	10						.						195.0	175.0	181.0					10																	27328955		1834	4073	5907	27368961	SO:0001587	stop_gained	22852	exon21			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2314G>T	10.37:g.27328955C>A	ENSP00000365255:p.Glu772*		27368961	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonsense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	40	8.357240	0.98774	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	5.03	5.03	0.67393	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.2166	0.82231	0.0:1.0:0.0:0.0	.	.	.	.	X	329;772;788	.	ENSP00000365238:E329X	E	-	1	0	ANKRD26	27368961	1.000000	0.71417	0.103000	0.21229	0.989000	0.77384	2.265000	0.43311	2.474000	0.83562	0.585000	0.79938	GAA		0.299	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
YME1L1	10730	broad.mit.edu	37	10	27406549	27406549	+	Missense_Mutation	SNP	T	T	C	rs200047558		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27406549T>C	ENST00000326799.3	-	16	1994	c.1846A>G	c.(1846-1848)Atc>Gtc	p.I616V	YME1L1_ENST00000375972.3_Missense_Mutation_p.I526V|YME1L1_ENST00000376016.3_Missense_Mutation_p.I559V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	616					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.I616V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTTTGTTGATAGGCATTGCA	0.428																																					p.I559V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1675G	10						.						325.0	274.0	292.0					10																	27406549		2203	4300	6503	27446555	SO:0001583	missense	10730	exon15			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1846A>G	10.37:g.27406549T>C	ENSP00000318480:p.Ile616Val		27446555	NM_014263	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889169	0.52014	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.79749	-1.3;-1.3;-1.3	5.49	5.49	0.81192	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.044743	0.85682	D	0.000000	T	0.68595	0.3018	N	0.00855	-1.145	0.80722	D	1	D;B;B	0.53151	0.958;0.257;0.379	D;B;B	0.70716	0.97;0.147;0.401	T	0.70103	-0.4964	10	0.02654	T	1	-6.379	15.8844	0.79232	0.0:0.0:0.0:1.0	.	526;559;616	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	V	559;616;616;526;362	ENSP00000365184:I559V;ENSP00000318480:I616V;ENSP00000365139:I526V	ENSP00000318480:I616V	I	-	1	0	YME1L1	27446555	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.954000	0.87848	2.218000	0.71995	0.533000	0.62120	ATC		0.428	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
MASTL	84930	broad.mit.edu	37	10	27459067	27459067	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27459067C>A	ENST00000375940.4	+	8	1236	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	MASTL_ENST00000342386.6_Missense_Mutation_p.F393L|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.F393L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.F393L(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAATGCTTCTCTGGGGAAG	0.418																																					p.F393L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1179A	10						.						96.0	97.0	97.0					10																	27459067		2203	4300	6503	27499073	SO:0001583	missense	84930	exon8			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1179C>A	10.37:g.27459067C>A	ENSP00000365107:p.Phe393Leu		27499073	NM_001172303	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.522353	0.00149	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.75938	-0.98;-0.98;-0.98	5.78	1.35	0.21983	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.108720	0.06554	N	0.745474	T	0.56731	0.2005	N	0.25144	0.715	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34129	-0.9841	10	0.02654	T	1	5.1789	9.4213	0.38553	0.1038:0.6451:0.0:0.2512	.	393;393;393	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	L	393	ENSP00000365113:F393L;ENSP00000343446:F393L;ENSP00000365107:F393L	ENSP00000343446:F393L	F	+	3	2	MASTL	27499073	0.219000	0.23619	0.001000	0.08648	0.004000	0.04260	-0.052000	0.11865	0.093000	0.17368	-0.824000	0.03097	TTC		0.418	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
MASTL	84930	broad.mit.edu	37	10	27459707	27459707	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:27459707C>T	ENST00000375940.4	+	8	1876	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	MASTL_ENST00000342386.6_Missense_Mutation_p.P607S|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.P607S			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	607	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.P607S(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATTGAAGATCCACTTATTGT	0.378																																					p.P607S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819T	10						.						39.0	39.0	39.0					10																	27459707		2203	4300	6503	27499713	SO:0001583	missense	84930	exon8			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1819C>T	10.37:g.27459707C>T	ENSP00000365107:p.Pro607Ser		27499713	NM_001172303	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	ENST00000375940.4	37	CCDS53502.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644967	0.00792	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22743	1.94;1.94;1.94	5.14	0.741	0.18336	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.196920	0.05691	N	0.592129	T	0.07954	0.0199	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.17465	0.001;0.0;0.022	B;B;B	0.15870	0.001;0.001;0.014	T	0.34725	-0.9817	10	0.16896	T	0.51	-0.2648	2.0454	0.03559	0.2187:0.272:0.357:0.1522	.	607;607;607	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	S	607	ENSP00000365113:P607S;ENSP00000343446:P607S;ENSP00000365107:P607S	ENSP00000343446:P607S	P	+	1	0	MASTL	27499713	0.000000	0.05858	0.318000	0.25279	0.387000	0.30353	-0.959000	0.03853	0.228000	0.21019	0.591000	0.81541	CCA		0.378	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
ARMC4	55130	broad.mit.edu	37	10	28151422	28151422	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:28151422T>G	ENST00000305242.5	-	18	2832	c.2740A>C	c.(2740-2742)Aat>Cat	p.N914H	ARMC4_ENST00000537576.1_Missense_Mutation_p.N606H|ARMC4_ENST00000545014.1_Missense_Mutation_p.N439H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	914					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.N914H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAGCTAAATTTTCTTGATCT	0.348																																					p.N914H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2740C	10						.						174.0	154.0	161.0					10																	28151422		2203	4300	6503	28191428	SO:0001583	missense	55130	exon18			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2740A>C	10.37:g.28151422T>G	ENSP00000306410:p.Asn914His		28191428	NM_018076	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486434	0.84854	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.92397	-3.03;-3.03;-0.24	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.084158	0.85682	D	0.000000	D	0.96027	0.8706	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.73380	0.963;0.98	D	0.96332	0.9244	10	0.66056	D	0.02	-40.3693	16.3322	0.83039	0.0:0.0:0.0:1.0	.	439;914	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	H	606;914;439	ENSP00000443208:N606H;ENSP00000306410:N914H;ENSP00000441076:N439H	ENSP00000306410:N914H	N	-	1	0	ARMC4	28191428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.218000	0.72224	2.251000	0.74343	0.528000	0.53228	AAT		0.348	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
MPP7	143098	broad.mit.edu	37	10	28348654	28348654	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:28348654C>A	ENST00000375732.1	-	14	1482	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_ENST00000375719.3_Missense_Mutation_p.R408I|MPP7_ENST00000337532.5_Missense_Mutation_p.R408I|MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000540098.1_Missense_Mutation_p.R408I			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	408	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.R408I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338																																					p.R408I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1223T	10						.						107.0	102.0	104.0					10																	28348654		2203	4299	6502	28388660	SO:0001583	missense	143098	exon16			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1223G>T	10.37:g.28348654C>A	ENSP00000364884:p.Arg408Ile		28388660	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368024	0.82463	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.044816	0.85682	D	0.000000	T	0.78046	0.4222	H	0.97415	4	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.86142	0.1582	10	0.87932	D	0	.	19.4309	0.94765	0.0:1.0:0.0:0.0	.	408	Q5T2T1	MPP7_HUMAN	I	408;408;408;408;169;283	ENSP00000364884:R408I;ENSP00000337907:R408I;ENSP00000438693:R408I;ENSP00000364871:R408I;ENSP00000398319:R169I;ENSP00000405397:R283I	ENSP00000337907:R408I	R	-	2	0	MPP7	28388660	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.659000	0.54489	2.592000	0.87571	0.650000	0.86243	AGA		0.338	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
BAMBI	25805	broad.mit.edu	37	10	28970244	28970244	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:28970244A>C	ENST00000375533.3	+	2	690	c.134A>C	c.(133-135)aAa>aCa	p.K45T		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	45					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.K45T(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						TATATGTGTAAATCTGAGCTC	0.493																																					p.K45T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134C	10						.						114.0	106.0	109.0					10																	28970244		2203	4300	6503	29010250	SO:0001583	missense	25805	exon2			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.134A>C	10.37:g.28970244A>C	ENSP00000364683:p.Lys45Thr		29010250	NM_012342		Missense_Mutation	SNP	ENST00000375533.3	37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224149	0.79576	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	D	0.89875	-2.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93817	0.7115	10	0.62326	D	0.03	.	15.6899	0.77442	1.0:0.0:0.0:0.0	.	45;45	Q13145;Q53G66	BAMBI_HUMAN;.	T	45	ENSP00000364683:K45T	ENSP00000364683:K45T	K	+	2	0	BAMBI	29010250	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.279000	0.95777	2.110000	0.64415	0.533000	0.62120	AAA		0.493	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342	
BAMBI	25805	broad.mit.edu	37	10	28971076	28971076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:28971076C>T	ENST00000375533.3	+	3	1085	c.529C>T	c.(529-531)Cga>Tga	p.R177*		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	177					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R177*(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GAGGATGCTTCGAAGTGAAAA	0.507																																					p.R177X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C529T	10						.						116.0	103.0	107.0					10																	28971076		2203	4300	6503	29011082	SO:0001587	stop_gained	25805	exon3			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.529C>T	10.37:g.28971076C>T	ENSP00000364683:p.Arg177*		29011082	NM_012342		Nonsense_Mutation	SNP	ENST00000375533.3	37	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	40	8.302631	0.98750	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.86	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7785	0.85558	0.274:0.726:0.0:0.0	.	.	.	.	X	177;164	.	ENSP00000364683:R177X	R	+	1	2	BAMBI	29011082	1.000000	0.71417	0.101000	0.21167	0.958000	0.62258	5.063000	0.64332	0.831000	0.34780	-0.808000	0.03180	CGA		0.507	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342	
LYZL1	84569	broad.mit.edu	37	10	29581548	29581548	+	Silent	SNP	C	C	T	rs142250687	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29581548C>T	ENST00000375500.3	+	3	435	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	80					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.F126F(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TCAACAGCTTCGCGTGGTGCA	0.557													c|||	2	0.000399361	0.0	0.0	5008	,	,		18777	0.0		0.002	False		,,,				2504	0.0				p.F126F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	10						.	T		2,4404	4.2+/-10.8	0,2,2201	168.0	136.0	147.0		378	0.1	0.1	10	dbSNP_134	147	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	LYZL1	NM_032517.4		0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538		126/195	29581548	7,12999	2203	4300	6503	29621554	SO:0001819	synonymous_variant	84569	exon3				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.378C>T	10.37:g.29581548C>T			29621554	NM_032517	Q5T921|Q8WW16	Silent	SNP	ENST00000375500.3	37	CCDS31174.1																																																																																				0.557	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047381.1	NM_032517	
SVIL	6840	broad.mit.edu	37	10	29747377	29747377	+	Missense_Mutation	SNP	C	C	T	rs147020336		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29747377C>T	ENST00000355867.4	-	37	7296	c.6544G>A	c.(6544-6546)Gac>Aac	p.D2182N	PTCHD3P1_ENST00000430295.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.D2182N|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.D1756N|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D1096N|PTCHD3P1_ENST00000455774.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2182	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.D2182N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAGTCTTCGTCGGTGAGATAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16467	0.0		0.0	False		,,,				2504	0.0				p.D1756N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5266A	10						.	C	ASN/ASP,ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	44.0	44.0	44.0		5266,6544	4.4	0.5	10	dbSNP_134	44	0,8600		0,0,4300	no	missense,missense	SVIL	NM_003174.3,NM_021738.2	23,23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1756/1789,2182/2215	29747377	3,13003	2203	4300	6503	29787383	SO:0001583	missense	6840	exon35			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6544G>A	10.37:g.29747377C>T	ENSP00000348128:p.Asp2182Asn		29787383	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847656	0.71603	6.81E-4	0.0	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.16324	2.46;2.47;2.47;2.35	4.39	4.39	0.52855	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.86343	2.81	0.80722	D	1	D;P;D	0.56746	0.971;0.943;0.977	P;P;P	0.52514	0.611;0.576;0.701	T	0.53947	-0.8366	10	0.72032	D	0.01	-13.2492	17.1971	0.86895	0.0:1.0:0.0:0.0	.	1096;1756;2182	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	N	1756;2182;2182;1096	ENSP00000364549:D1756N;ENSP00000364547:D2182N;ENSP00000348128:D2182N;ENSP00000445472:D1096N	ENSP00000348128:D2182N	D	-	1	0	SVIL	29787383	1.000000	0.71417	0.497000	0.27552	0.043000	0.13939	7.480000	0.81109	2.264000	0.75181	0.644000	0.83932	GAC		0.597	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29762810	29762810	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29762810G>A	ENST00000355867.4	-	30	6238	c.5486C>T	c.(5485-5487)tCg>tTg	p.S1829L	SVIL_ENST00000375398.2_Missense_Mutation_p.S1829L|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1403L|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S743L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1829					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S1829L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CATCAGCGCCGACGTGCCCTT	0.652																																					p.S1403L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4208T	10						.						60.0	51.0	54.0					10																	29762810		2203	4300	6503	29802816	SO:0001583	missense	6840	exon28			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5486C>T	10.37:g.29762810G>A	ENSP00000348128:p.Ser1829Leu		29802816	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621673	0.96660	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.57436	0.4;2.27;2.27;0.4	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.74199	0.3685	M	0.85041	2.73	0.80722	D	1	D;P;D	0.71674	0.998;0.935;0.968	P;P;P	0.61070	0.883;0.463;0.506	T	0.79629	-0.1724	10	0.87932	D	0	-9.3097	18.8101	0.92054	0.0:0.0:1.0:0.0	.	743;1403;1829	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	L	1403;1829;1829;743	ENSP00000364549:S1403L;ENSP00000364547:S1829L;ENSP00000348128:S1829L;ENSP00000445472:S743L	ENSP00000348128:S1829L	S	-	2	0	SVIL	29802816	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	9.751000	0.98889	2.418000	0.82041	0.655000	0.94253	TCG		0.652	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29782172	29782172	+	Silent	SNP	G	G	A	rs376322653		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29782172G>A	ENST00000355867.4	-	21	4742	c.3990C>T	c.(3988-3990)ttC>ttT	p.F1330F	SVIL_ENST00000375398.2_Silent_p.F1330F|SVIL_ENST00000538146.1_Silent_p.F122F|SVIL_ENST00000375400.3_Silent_p.F904F|SVIL_ENST00000535393.1_Silent_p.F244F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1330					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.F1330F(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAATGACATCGAAGTCCTCAT	0.478																																					p.F904F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2712T	10						.						111.0	95.0	100.0					10																	29782172		2203	4300	6503	29822178	SO:0001819	synonymous_variant	6840	exon19			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3990C>T	10.37:g.29782172G>A			29822178	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	CCDS7164.1																																																																																				0.478	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29812595	29812595	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29812595C>T	ENST00000355867.4	-	15	3700	c.2948G>A	c.(2947-2949)aGg>aAg	p.R983K	SVIL_ENST00000375398.2_Missense_Mutation_p.R983K|SVIL_ENST00000375400.3_Missense_Mutation_p.R557K|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	983					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.R983K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTCTCCTTCCCTGGCTCGGTT	0.537																																					p.R557K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1670A	10						.						139.0	123.0	128.0					10																	29812595		2203	4300	6503	29852601	SO:0001583	missense	6840	exon13			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2948G>A	10.37:g.29812595C>T	ENSP00000348128:p.Arg983Lys		29852601	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	2.216	-0.379605	0.05000	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.11169	2.8;2.85;2.85	5.14	5.14	0.70334	.	0.534626	0.20892	N	0.083809	T	0.09598	0.0236	L	0.42245	1.32	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.001;0.003	T	0.15321	-1.0441	9	.	.	.	-2.2724	8.9702	0.35901	0.0:0.7694:0.1501:0.0805	.	557;983	O95425-2;O95425	.;SVIL_HUMAN	K	557;983;983	ENSP00000364549:R557K;ENSP00000364547:R983K;ENSP00000348128:R983K	.	R	-	2	0	SVIL	29852601	0.021000	0.18746	0.958000	0.39756	0.098000	0.18820	0.687000	0.25407	2.553000	0.86117	0.563000	0.77884	AGG		0.537	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29812760	29812760	+	Missense_Mutation	SNP	G	G	A	rs148261163		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29812760G>A	ENST00000355867.4	-	15	3535	c.2783C>T	c.(2782-2784)tCg>tTg	p.S928L	SVIL_ENST00000375398.2_Missense_Mutation_p.S928L|SVIL_ENST00000375400.3_Missense_Mutation_p.S502L|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	928					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S928L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCAAGCTTGCGATTTCAGAAT	0.453																																					p.S502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	10						.	G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	157.0	143.0	148.0		1505,2783	5.6	0.0	10	dbSNP_134	148	0,8600		0,0,4300	no	missense,missense	SVIL	NM_003174.3,NM_021738.2	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	502/1789,928/2215	29812760	1,13005	2203	4300	6503	29852766	SO:0001583	missense	6840	exon13			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2783C>T	10.37:g.29812760G>A	ENSP00000348128:p.Ser928Leu		29852766	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.552904	0.27739	2.27E-4	0.0	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.13307	2.6;2.62;2.62	5.57	5.57	0.84162	.	0.389110	0.26903	N	0.021912	T	0.16685	0.0401	M	0.64997	1.995	0.80722	D	1	P;B	0.34743	0.466;0.448	B;B	0.28011	0.071;0.085	T	0.02301	-1.1180	9	.	.	.	-4.1372	17.7354	0.88391	0.0:0.0:1.0:0.0	.	502;928	O95425-2;O95425	.;SVIL_HUMAN	L	502;928;928	ENSP00000364549:S502L;ENSP00000364547:S928L;ENSP00000348128:S928L	.	S	-	2	0	SVIL	29852766	0.937000	0.31787	0.026000	0.17262	0.059000	0.15707	5.949000	0.70257	2.622000	0.88805	0.655000	0.94253	TCG		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29812951	29812951	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29812951C>A	ENST00000355867.4	-	15	3344	c.2592G>T	c.(2590-2592)caG>caT	p.Q864H	SVIL_ENST00000375398.2_Missense_Mutation_p.Q864H|SVIL_ENST00000375400.3_Missense_Mutation_p.Q438H|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	864					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.Q864H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCTTTCCACTCTGCACCTGGA	0.418																																					p.Q438H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1314T	10						.						33.0	34.0	33.0					10																	29812951		2176	4279	6455	29852957	SO:0001583	missense	6840	exon13			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2592G>T	10.37:g.29812951C>A	ENSP00000348128:p.Gln864His		29852957	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145943	0.57044	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.52057	0.68;0.68;0.68	5.32	-6.27	0.02026	.	0.158708	0.56097	D	0.000025	T	0.60077	0.2241	M	0.71581	2.175	0.51767	D	0.999937	D;D	0.69078	0.996;0.997	D;P	0.63597	0.916;0.907	T	0.68258	-0.5456	9	.	.	.	-18.5026	18.8742	0.92328	0.0:0.6653:0.0:0.3347	.	438;864	O95425-2;O95425	.;SVIL_HUMAN	H	438;864;864	ENSP00000364549:Q438H;ENSP00000364547:Q864H;ENSP00000348128:Q864H	.	Q	-	3	2	SVIL	29852957	0.310000	0.24527	0.818000	0.32626	0.924000	0.55760	-0.954000	0.03873	-1.224000	0.02581	-0.302000	0.09304	CAG		0.418	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
SVIL	6840	broad.mit.edu	37	10	29840027	29840027	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:29840027T>G	ENST00000355867.4	-	6	1078	c.326A>C	c.(325-327)aAa>aCa	p.K109T	SVIL_ENST00000375398.2_Missense_Mutation_p.K109T|SVIL_ENST00000375400.3_Missense_Mutation_p.K109T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	109	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.K109T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTTTCTGCTTTGTACCTTGC	0.542																																					p.K109T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A326C	10						.						187.0	158.0	168.0					10																	29840027		2203	4300	6503	29880033	SO:0001583	missense	6840	exon8			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.326A>C	10.37:g.29840027T>G	ENSP00000348128:p.Lys109Thr		29880033	NM_003174	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011020	0.75046	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.54279	0.58;0.58;0.58	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72087	0.3417	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73946	-0.3822	9	.	.	.	-27.2715	15.4477	0.75243	0.0:0.0:0.0:1.0	.	109;109	O95425-2;O95425	.;SVIL_HUMAN	T	109	ENSP00000364549:K109T;ENSP00000364547:K109T;ENSP00000348128:K109T	.	K	-	2	0	SVIL	29880033	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.063000	0.76714	2.050000	0.60909	0.482000	0.46254	AAA		0.542	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
KIAA1462	57608	broad.mit.edu	37	10	30315051	30315051	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:30315051A>C	ENST00000375377.1	-	3	4127	c.4026T>G	c.(4024-4026)gaT>gaG	p.D1342E		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1342					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.D1342E(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGAAGTCTTGATCCATGCTCT	0.507																																					p.D1342E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4026G	10						.						132.0	129.0	130.0					10																	30315051		2041	4201	6242	30355057	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.4026T>G	10.37:g.30315051A>C	ENSP00000364526:p.Asp1342Glu		30355057	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776046	0.31411	.	.	ENSG00000165757	ENST00000375377	T	0.11604	2.76	5.6	-11.2	0.00127	.	1.294630	0.05105	N	0.487804	T	0.08670	0.0215	L	0.46157	1.445	0.09310	N	1	B	0.21606	0.058	B	0.22152	0.038	T	0.25502	-1.0130	10	0.40728	T	0.16	-0.0357	9.555	0.39332	0.1124:0.2575:0.545:0.085	.	1342	Q9P266	K1462_HUMAN	E	1342	ENSP00000364526:D1342E	ENSP00000364526:D1342E	D	-	3	2	KIAA1462	30355057	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	-1.941000	0.01542	-1.869000	0.01141	-0.250000	0.11733	GAT		0.507	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
KIAA1462	57608	broad.mit.edu	37	10	30316882	30316882	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:30316882G>A	ENST00000375377.1	-	3	2296	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	732					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.T732M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCTGTGTGCGTCTGAGCTTC	0.577																																					p.T732M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2195T	10						.						57.0	60.0	59.0					10																	30316882		2118	4243	6361	30356888	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2195C>T	10.37:g.30316882G>A	ENSP00000364526:p.Thr732Met		30356888	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165310	0.21538	.	.	ENSG00000165757	ENST00000375377	T	0.11277	2.79	5.52	-11.0	0.00169	.	3.447750	0.00604	N	0.000387	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.22604	0.072	B	0.13407	0.009	T	0.38200	-0.9672	10	0.38643	T	0.18	2.1835	1.9526	0.03370	0.1535:0.2773:0.3126:0.2566	.	732	Q9P266	K1462_HUMAN	M	732	ENSP00000364526:T732M	ENSP00000364526:T732M	T	-	2	0	KIAA1462	30356888	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.017000	0.03630	-2.348000	0.00619	-0.339000	0.08088	ACG		0.577	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
KIAA1462	57608	broad.mit.edu	37	10	30318503	30318503	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:30318503G>T	ENST00000375377.1	-	3	675	c.574C>A	c.(574-576)Cca>Aca	p.P192T		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	192					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.P192T(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AATTTCCTTGGCTGGTTCCAG	0.473																																					p.P192T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C574A	10						.						198.0	195.0	196.0					10																	30318503		2061	4199	6260	30358509	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.574C>A	10.37:g.30318503G>T	ENSP00000364526:p.Pro192Thr		30358509	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	7.978	0.750474	0.15778	.	.	ENSG00000165757	ENST00000375377	T	0.19806	2.12	5.17	2.23	0.28157	.	0.278881	0.34460	N	0.003947	T	0.17450	0.0419	L	0.56769	1.78	0.40150	D	0.976939	P	0.35793	0.521	B	0.33121	0.158	T	0.04140	-1.0974	10	0.62326	D	0.03	-5.5754	4.7766	0.13182	0.0719:0.1326:0.5211:0.2744	.	192	Q9P266	K1462_HUMAN	T	192	ENSP00000364526:P192T	ENSP00000364526:P192T	P	-	1	0	KIAA1462	30358509	1.000000	0.71417	0.009000	0.14445	0.041000	0.13682	4.094000	0.57721	0.171000	0.19730	-0.175000	0.13238	CCA		0.473	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
MTPAP	55149	broad.mit.edu	37	10	30611410	30611410	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:30611410T>G	ENST00000263063.4	-	6	1172	c.1129A>C	c.(1129-1131)Aat>Cat	p.N377H	MTPAP_ENST00000358107.4_Missense_Mutation_p.N507H|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	377					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)	p.N377H(1)|p.N507H(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGGGAGAAATTTGTAATCCAT	0.448																																					p.N377H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1129C	10						.						126.0	121.0	123.0					10																	30611410		2203	4300	6503	30651416	SO:0001583	missense	55149	exon6			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1129A>C	10.37:g.30611410T>G	ENSP00000263063:p.Asn377His		30651416	NM_018109	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626390	0.87560	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.55930	0.49;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83105	-0.0126	10	0.87932	D	0	-31.8261	15.7781	0.78240	0.0:0.0:0.0:1.0	.	507;377	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	H	507;377	ENSP00000350820:N507H;ENSP00000263063:N377H	ENSP00000263063:N377H	N	-	1	0	MTPAP	30651416	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.632000	0.83247	2.187000	0.69744	0.372000	0.22366	AAT		0.448	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109	
ZNF438	220929	broad.mit.edu	37	10	31137538	31137538	+	Missense_Mutation	SNP	G	G	A	rs147456266		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:31137538G>A	ENST00000361310.3	-	6	2125	c.1796C>T	c.(1795-1797)gCg>gTg	p.A599V	ZNF438_ENST00000442986.1_Missense_Mutation_p.A599V|ZNF438_ENST00000452305.1_Missense_Mutation_p.A589V|ZNF438_ENST00000444692.2_Missense_Mutation_p.A589V|ZNF438_ENST00000436087.2_Missense_Mutation_p.A599V|ZNF438_ENST00000375311.1_Missense_Mutation_p.A163V|ZNF438_ENST00000413025.1_Missense_Mutation_p.A599V|ZNF438_ENST00000331737.6_Missense_Mutation_p.A589V|ZNF438_ENST00000538351.2_Missense_Mutation_p.A550V			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	599					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A599V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TTCACTGGGCGCAGGCTCAGT	0.493																																					p.A589V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1766T	10						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	129.0	116.0	120.0		1796,1796,1796,1649,1766,1766,1796	4.3	0.0	10	dbSNP_134	120	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	ZNF438	NM_001143766.1,NM_001143767.1,NM_001143768.1,NM_001143769.1,NM_001143770.1,NM_001143771.1,NM_182755.2	64,64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	599/829,599/829,599/829,550/780,589/819,589/819,599/829	31137538	1,13005	2203	4300	6503	31177544	SO:0001583	missense	220929	exon7			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1796C>T	10.37:g.31137538G>A	ENSP00000354663:p.Ala599Val		31177544	NM_001143771	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978803	0.18812	2.27E-4	0.0	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15;3.15	5.24	4.31	0.51392	.	0.279307	0.41938	D	0.000794	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	P;P	0.42039	0.53;0.769	B;B	0.28305	0.025;0.088	T	0.41395	-0.9511	10	0.33141	T	0.24	-3.1	5.1161	0.14834	0.0795:0.1469:0.6214:0.1522	.	599;589	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	V	589;599;599;599;599;589;589;550;318;163	ENSP00000333571:A589V;ENSP00000354663:A599V;ENSP00000406934:A599V;ENSP00000412363:A599V;ENSP00000387546:A599V;ENSP00000413060:A589V;ENSP00000410898:A589V;ENSP00000445461:A550V;ENSP00000364460:A163V	ENSP00000333571:A589V	A	-	2	0	ZNF438	31177544	0.466000	0.25823	0.008000	0.14137	0.016000	0.09150	3.082000	0.50128	1.162000	0.42619	0.467000	0.42956	GCG		0.493	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
ARHGAP12	94134	broad.mit.edu	37	10	32106798	32106798	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32106798C>A	ENST00000344936.2	-	13	1883	c.1649G>T	c.(1648-1650)gGa>gTa	p.G550V	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.G520V|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.G498V|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.G545V|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.G498V	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	550	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.G550V(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CAGTTCTGTTCCTTGACGAGT	0.338																																					p.G550V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649T	10						.						99.0	100.0	99.0					10																	32106798		2202	4299	6501	32146804	SO:0001583	missense	94134	exon13			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1649G>T	10.37:g.32106798C>A	ENSP00000345808:p.Gly550Val		32146804	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491799	0.84962	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.047451	0.85682	D	0.000000	D	0.90515	0.7028	M	0.81239	2.535	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.91407	0.5148	10	0.87932	D	0	.	19.3322	0.94295	0.0:1.0:0.0:0.0	.	503;520;520;545;550;498	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	V	498;520;550;545;498	ENSP00000310984:G498V;ENSP00000364399:G520V;ENSP00000345808:G550V;ENSP00000379448:G545V;ENSP00000364394:G498V	ENSP00000310984:G498V	G	-	2	0	ARHGAP12	32146804	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.079000	0.76829	2.632000	0.89209	0.655000	0.94253	GGA		0.338	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
ARHGAP12	94134	broad.mit.edu	37	10	32109327	32109327	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32109327C>A	ENST00000344936.2	-	12	1854	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K510N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K488N|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K535N|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K488N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	540	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K540N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CAAATACATTCTTTTTGCTGG	0.348																																					p.K540N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1620T	10						.						95.0	87.0	89.0					10																	32109327		2203	4300	6503	32149333	SO:0001583	missense	94134	exon12			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1620G>T	10.37:g.32109327C>A	ENSP00000345808:p.Lys540Asn		32149333	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985236	0.74474	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.999	D	0.91420	0.5158	10	0.87932	D	0	.	10.3411	0.43879	0.0:0.8546:0.0:0.1454	.	493;510;510;535;540;488	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	N	488;510;540;535;488	ENSP00000310984:K488N;ENSP00000364399:K510N;ENSP00000345808:K540N;ENSP00000379448:K535N;ENSP00000364394:K488N	ENSP00000310984:K488N	K	-	3	2	ARHGAP12	32149333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.815000	0.38981	2.709000	0.92574	0.591000	0.81541	AAG		0.348	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
ARHGAP12	94134	broad.mit.edu	37	10	32132487	32132487	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32132487C>A	ENST00000344936.2	-	7	1432	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ARHGAP12_ENST00000375250.5_Nonsense_Mutation_p.E400*|ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.E353*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.E400*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.E353*	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	400					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E400*(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTAATTATTTCTCTTTGCTGC	0.348																																					p.E400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1198T	10						.						75.0	73.0	74.0					10																	32132487		2203	4300	6503	32172493	SO:0001587	stop_gained	94134	exon7			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1198G>T	10.37:g.32132487C>A	ENSP00000345808:p.Glu400*		32172493	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Nonsense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.591420|9.591420	0.99213|0.99213	.|.	.|.	ENSG00000165322|ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245|ENST00000454919	.|T	.|0.37411	.|1.2	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.100457|.	0.64402|.	D|.	0.000003|.	.|T	.|0.47395	.|0.1443	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17048	.|-1.0382	.|5	0.21540|0.21540	T|T	0.41|0.41	.|.	18.9171|18.9171	0.92510|0.92510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	353;400;400;400;353|75	.|ENSP00000398050:R75I	ENSP00000310984:E353X|ENSP00000398050:R75I	E|R	-|-	1|2	0|0	ARHGAP12|ARHGAP12	32172493|32172493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.477000|6.477000	0.73591|0.73591	2.461000|2.461000	0.83175|0.83175	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.348	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
ARHGAP12	94134	broad.mit.edu	37	10	32150552	32150552	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32150552G>T	ENST00000344936.2	-	4	953	c.719C>A	c.(718-720)tCt>tAt	p.S240Y	ARHGAP12_ENST00000375250.5_Missense_Mutation_p.S240Y|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S240Y|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S240Y|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S240Y	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	240					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S240Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATAGACAGGAGAATCTGGCCT	0.388																																					p.S240Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C719A	10						.						73.0	76.0	75.0					10																	32150552		2203	4300	6503	32190558	SO:0001583	missense	94134	exon4			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.719C>A	10.37:g.32150552G>T	ENSP00000345808:p.Ser240Tyr		32190558	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588471	0.86851	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.10960	2.85;2.82;2.9;2.91;2.85	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.00668	-1.1618	10	0.72032	D	0.01	.	19.85	0.96736	0.0:0.0:1.0:0.0	.	240;240;240;240;240;240	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	Y	240	ENSP00000310984:S240Y;ENSP00000364399:S240Y;ENSP00000345808:S240Y;ENSP00000379448:S240Y;ENSP00000364394:S240Y	ENSP00000310984:S240Y	S	-	2	0	ARHGAP12	32190558	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.025000	0.93694	2.697000	0.92050	0.563000	0.77884	TCT		0.388	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
KIF5B	3799	broad.mit.edu	37	10	32307309	32307309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32307309C>A	ENST00000302418.4	-	22	2831	c.2374G>T	c.(2374-2376)Gaa>Taa	p.E792*	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	792					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E792*(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GTCTGAAGTTCTTTTGCCTTG	0.373			T	"""RET, ALK"""	NSCLC																																p.E792X			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2374T	10						.						138.0	135.0	136.0					10																	32307309		2203	4300	6503	32347315	SO:0001587	stop_gained	3799	exon22			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2374G>T	10.37:g.32307309C>A	ENSP00000307078:p.Glu792*		32347315	NM_004521	A0AVB2|Q5VZ85	Nonsense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	44	11.134787	0.99521	.	.	ENSG00000170759	ENST00000302418	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.8765	0.92338	0.0:1.0:0.0:0.0	.	.	.	.	X	792	.	ENSP00000307078:E792X	E	-	1	0	KIF5B	32347315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.752000	0.85141	2.532000	0.85374	0.591000	0.81541	GAA		0.373	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
KIF5B	3799	broad.mit.edu	37	10	32310026	32310026	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32310026C>T	ENST00000302418.4	-	19	2585	c.2128G>A	c.(2128-2130)Gaa>Aaa	p.E710K	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	710					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E710K(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGATGAGTTTCTCTATGGCTC	0.328			T	"""RET, ALK"""	NSCLC																																p.E710K			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2128A	10						.						163.0	160.0	161.0					10																	32310026		2202	4299	6501	32350032	SO:0001583	missense	3799	exon19			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2128G>A	10.37:g.32310026C>T	ENSP00000307078:p.Glu710Lys		32350032	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529130	0.96446	.	.	ENSG00000170759	ENST00000302418	T	0.80304	-1.36	5.36	5.36	0.76844	.	0.048141	0.85682	D	0.000000	D	0.88243	0.6384	M	0.86343	2.81	0.80722	D	1	P	0.45176	0.852	P	0.49597	0.616	D	0.90163	0.4229	10	0.72032	D	0.01	.	19.0712	0.93138	0.0:1.0:0.0:0.0	.	710	P33176	KINH_HUMAN	K	710	ENSP00000307078:E710K	ENSP00000307078:E710K	E	-	1	0	KIF5B	32350032	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.503000	0.84419	0.591000	0.81541	GAA		0.328	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
KIF5B	3799	broad.mit.edu	37	10	32311787	32311787	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32311787G>A	ENST00000302418.4	-	16	2360	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	635					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R635C(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGAGAGATACGAAGCTGACAT	0.318			T	"""RET, ALK"""	NSCLC																																p.R635C			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1903T	10						.						219.0	188.0	198.0					10																	32311787		2201	4298	6499	32351793	SO:0001583	missense	3799	exon16			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1903C>T	10.37:g.32311787G>A	ENSP00000307078:p.Arg635Cys		32351793	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806249	0.90623	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	L	0.54323	1.7	0.80722	D	1	P	0.44776	0.843	P	0.44860	0.462	D	0.88797	0.3282	10	0.66056	D	0.02	.	19.6656	0.95891	0.0:0.0:1.0:0.0	.	635	P33176	KINH_HUMAN	C	635	ENSP00000307078:R635C	ENSP00000307078:R635C	R	-	1	0	KIF5B	32351793	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.813000	0.99286	2.713000	0.92767	0.455000	0.32223	CGT		0.318	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
KIF5B	3799	broad.mit.edu	37	10	32323684	32323684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32323684C>A	ENST00000302418.4	-	11	1502	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	349					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E349*(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTATTTTTTTCTTTTTCTTTT	0.348			T	"""RET, ALK"""	NSCLC																																p.E349X			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1045T	10						.						63.0	61.0	62.0					10																	32323684		2203	4300	6503	32363690	SO:0001587	stop_gained	3799	exon11			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1045G>T	10.37:g.32323684C>A	ENSP00000307078:p.Glu349*		32363690	NM_004521	A0AVB2|Q5VZ85	Nonsense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	43	9.839737	0.99276	.	.	ENSG00000170759	ENST00000302418	.	.	.	5.26	5.26	0.73747	.	0.050634	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	.	.	.	X	349	.	ENSP00000307078:E349X	E	-	1	0	KIF5B	32363690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.435000	0.82474	0.563000	0.77884	GAA		0.348	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
KIF5B	3799	broad.mit.edu	37	10	32324579	32324579	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32324579C>T	ENST00000302418.4	-	10	1290	c.833G>A	c.(832-834)cGa>cAa	p.R278Q		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	278	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R278Q(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTTACTATCTCGATATGGAAC	0.313			T	"""RET, ALK"""	NSCLC																																p.R278Q			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	10						.						88.0	83.0	85.0					10																	32324579		2203	4298	6501	32364585	SO:0001583	missense	3799	exon10			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.833G>A	10.37:g.32324579C>T	ENSP00000307078:p.Arg278Gln		32364585	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	35	5.477991	0.96291	.	.	ENSG00000170759	ENST00000302418	D	0.85339	-1.97	5.67	5.67	0.87782	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	H	0.99104	4.43	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	D	0.97604	1.0125	10	0.87932	D	0	.	19.7723	0.96370	0.0:1.0:0.0:0.0	.	278	P33176	KINH_HUMAN	Q	278	ENSP00000307078:R278Q	ENSP00000307078:R278Q	R	-	2	0	KIF5B	32364585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.750000	0.85110	2.670000	0.90874	0.650000	0.86243	CGA		0.313	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
KIF5B	3799	broad.mit.edu	37	10	32326502	32326502	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:32326502C>T	ENST00000302418.4	-	7	989	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	178	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E178K(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCCATAACTTCATCTGGACTA	0.333			T	"""RET, ALK"""	NSCLC																																p.E178K			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G532A	10						.						140.0	120.0	127.0					10																	32326502		2202	4300	6502	32366508	SO:0001583	missense	3799	exon7			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.532G>A	10.37:g.32326502C>T	ENSP00000307078:p.Glu178Lys		32366508	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511103	0.96386	.	.	ENSG00000170759	ENST00000302418	T	0.75260	-0.92	5.38	5.38	0.77491	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.91369	0.5118	10	0.87932	D	0	.	19.4918	0.95052	0.0:1.0:0.0:0.0	.	178	P33176	KINH_HUMAN	K	178	ENSP00000307078:E178K	ENSP00000307078:E178K	E	-	1	0	KIF5B	32366508	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.666000	0.90696	0.650000	0.86243	GAA		0.333	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
CCDC7	79741	broad.mit.edu	37	10	33165299	33165299	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:33165299C>A	ENST00000375030.2	+	23	2360	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	C10orf68_ENST00000375028.3_Missense_Mutation_p.S626Y|C10orf68_ENST00000375025.4_Missense_Mutation_p.S686Y			Q9H943	CJ068_HUMAN		622								p.S622Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GCCCGAAAATCTGTACCACAC	0.313																																					p.S622Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1865A	10						.						78.0	76.0	77.0					10																	33165299		2203	4300	6503	33205305	SO:0001583	missense	79741	exon22																														ENST00000375030.2:c.1742C>A	10.37:g.33165299C>A	ENSP00000364170:p.Ser581Tyr		33205305	NM_024688	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37		.	.	.	.	.	.	.	.	.	.	.	9.703	1.154941	0.21371	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31510	1.51;1.5;1.49;1.49	3.62	0.681	0.17986	.	.	.	.	.	T	0.23611	0.0571	L	0.40543	1.245	0.09310	N	1	P;P;P;P	0.49090	0.851;0.919;0.919;0.851	B;B;B;B	0.44224	0.444;0.444;0.444;0.444	T	0.15752	-1.0426	9	0.87932	D	0	.	3.0301	0.06104	0.2138:0.5518:0.0:0.2344	.	603;622;626;581	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	Y	622;581;626;686;598	ENSP00000303710:S622Y;ENSP00000364170:S581Y;ENSP00000364168:S626Y;ENSP00000364165:S686Y	ENSP00000303710:S622Y	S	+	2	0	C10orf68	33205305	0.009000	0.17119	0.004000	0.12327	0.035000	0.12851	0.085000	0.14912	0.147000	0.19030	0.655000	0.94253	TCT		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2		
NRP1	8829	broad.mit.edu	37	10	33474638	33474638	+	Silent	SNP	G	G	A	rs143858258	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:33474638G>A	ENST00000265371.4	-	16	2874	c.2349C>T	c.(2347-2349)ggC>ggT	p.G783G	NRP1_ENST00000395995.1_Silent_p.G783G|NRP1_ENST00000374875.1_Silent_p.G595G|NRP1_ENST00000374867.2_Silent_p.G783G			O14786	NRP1_HUMAN	neuropilin 1	783	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G783G(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTCCGATTTCGCCCTCGAAAA	0.398																																					p.G783G	Melanoma(104;886 1489 44640 45944 51153)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2349T	10						.						107.0	95.0	99.0					10																	33474638		2203	4300	6503	33514644	SO:0001819	synonymous_variant	8829	exon15			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2349C>T	10.37:g.33474638G>A			33514644	NM_003873	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	CCDS7177.1																																																																																				0.398	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2		
PARD3	56288	broad.mit.edu	37	10	34620159	34620159	+	Missense_Mutation	SNP	G	G	A	rs566752362		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:34620159G>A	ENST00000374789.3	-	19	3053	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	PARD3_ENST00000340077.5_Missense_Mutation_p.R907C|PARD3_ENST00000374788.3_Missense_Mutation_p.R907C|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000346874.4_Missense_Mutation_p.R910C|PARD3_ENST00000374773.1_Missense_Mutation_p.R877C|PARD3_ENST00000374776.1_Missense_Mutation_p.R864C|PARD3_ENST00000374790.3_Missense_Mutation_p.R850C|PARD3_ENST00000350537.4_Missense_Mutation_p.R864C|PARD3_ENST00000544292.1_Missense_Mutation_p.R623C|PARD3_ENST00000545693.1_Missense_Mutation_p.R894C|PARD3_ENST00000545260.1_Missense_Mutation_p.R820C|PARD3_ENST00000374794.3_Missense_Mutation_p.R835C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	910	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R910C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCCGTGGACGATGGAAAGGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14480	0.0		0.0	False		,,,				2504	0.0				p.R910C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2728T	10						.						115.0	101.0	106.0					10																	34620159		2203	4300	6503	34660165	SO:0001583	missense	56288	exon19			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2728C>T	10.37:g.34620159G>A	ENSP00000363921:p.Arg910Cys		34660165	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756512	0.89843	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.999;1.0;0.999;0.995;0.991;0.998;0.999;1.0;0.998;1.0;1.0	T	0.68465	-0.5401	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	.	835;820;864;864;894;910;907;910;850;894;877;907;864;876;623	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	894;820;910;907;910;835;864;850;864;907;877;623	ENSP00000443147:R894C;ENSP00000440857:R820C;ENSP00000363921:R910C;ENSP00000363920:R907C;ENSP00000340591:R910C;ENSP00000363926:R835C;ENSP00000311986:R864C;ENSP00000363922:R850C;ENSP00000363908:R864C;ENSP00000341844:R907C;ENSP00000363905:R877C;ENSP00000444429:R623C	ENSP00000341844:R907C	R	-	1	0	PARD3	34660165	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	3.633000	0.54295	2.697000	0.92050	0.650000	0.86243	CGT		0.517	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
PARD3	56288	broad.mit.edu	37	10	34673118	34673118	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:34673118G>A	ENST00000374789.3	-	8	1280	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	PARD3_ENST00000340077.5_Missense_Mutation_p.R319C|PARD3_ENST00000374788.3_Missense_Mutation_p.R319C|PARD3_ENST00000346874.4_Missense_Mutation_p.R319C|PARD3_ENST00000374773.1_Missense_Mutation_p.R319C|PARD3_ENST00000374776.1_Missense_Mutation_p.R319C|PARD3_ENST00000374790.3_Missense_Mutation_p.R275C|PARD3_ENST00000350537.4_Missense_Mutation_p.R319C|PARD3_ENST00000544292.1_Missense_Mutation_p.R49C|PARD3_ENST00000545693.1_Missense_Mutation_p.R319C|PARD3_ENST00000545260.1_Missense_Mutation_p.R275C|PARD3_ENST00000374794.3_Missense_Mutation_p.R275C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	319	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R319C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATTCTCACGAAAAAGATTT	0.378																																					p.R319C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C955T	10						.						180.0	159.0	166.0					10																	34673118		2203	4300	6503	34713124	SO:0001583	missense	56288	exon8			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.955C>T	10.37:g.34673118G>A	ENSP00000363921:p.Arg319Cys		34713124	NM_001184787	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905739	0.52333	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.98	5.98	0.97165	PDZ/DHR/GLGF (3);	0.301676	0.41500	D	0.000872	T	0.24275	0.0588	N	0.24115	0.695	0.38215	D	0.940595	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.0;0.0;0.001;0.0;0.001;0.001;0.0;0.0;0.001;0.003;0.003;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.12837	0.001;0.0;0.001;0.002;0.001;0.001;0.002;0.001;0.0;0.0;0.002;0.008;0.003;0.002	T	0.04635	-1.0937	10	0.46703	T	0.11	.	15.5733	0.76356	0.0673:0.0:0.9327:0.0	.	275;275;319;319;319;319;319;319;275;319;319;319;319;49	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.	C	319;275;319;319;319;275;319;275;319;319;319;49	ENSP00000443147:R319C;ENSP00000440857:R275C;ENSP00000363921:R319C;ENSP00000363920:R319C;ENSP00000340591:R319C;ENSP00000363926:R275C;ENSP00000311986:R319C;ENSP00000363922:R275C;ENSP00000363908:R319C;ENSP00000341844:R319C;ENSP00000363905:R319C;ENSP00000444429:R49C	ENSP00000341844:R319C	R	-	1	0	PARD3	34713124	1.000000	0.71417	0.958000	0.39756	0.725000	0.41563	6.186000	0.72026	2.835000	0.97688	0.650000	0.86243	CGT		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619	
CUL2	8453	broad.mit.edu	37	10	35327979	35327979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:35327979C>T	ENST00000374748.1	-	10	1059	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	CUL2_ENST00000374751.3_Missense_Mutation_p.R249Q|CUL2_ENST00000602371.1_Missense_Mutation_p.R192Q|CUL2_ENST00000374746.1_Missense_Mutation_p.R249Q|CUL2_ENST00000537177.1_Missense_Mutation_p.R268Q|CUL2_ENST00000374749.3_Missense_Mutation_p.R249Q|CUL2_ENST00000374742.1_Missense_Mutation_p.R249Q			Q13617	CUL2_HUMAN	cullin 2	249					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.R249Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTTCGACATCGAATTTCTTC	0.318																																					p.R249Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	10						.						116.0	106.0	109.0					10																	35327979		2203	4296	6499	35367985	SO:0001583	missense	8453	exon9			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.746G>A	10.37:g.35327979C>T	ENSP00000363880:p.Arg249Gln		35367985	NM_001198777	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889487	0.97068	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.16	6.16	0.99307	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.75900	-0.3154	10	0.87932	D	0	-8.0139	20.8598	0.99761	0.0:1.0:0.0:0.0	.	249;268;249	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	Q	249;249;249;249;192;249;268	ENSP00000363883:R249Q;ENSP00000363880:R249Q;ENSP00000363878:R249Q;ENSP00000363881:R249Q;ENSP00000363874:R249Q;ENSP00000444856:R268Q	ENSP00000363874:R249Q	R	-	2	0	CUL2	35367985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGA		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591	
ANKRD30A	91074	broad.mit.edu	37	10	37419198	37419198	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:37419198C>T	ENST00000602533.1	+	3	333	c.234C>T	c.(232-234)ctC>ctT	p.L78L	ANKRD30A_ENST00000374660.1_Silent_p.L78L|ANKRD30A_ENST00000361713.1_Silent_p.L78L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	134					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L78L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATATAAATCTCGTAGATGTGT	0.423																																					p.L78L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234T	10						.						89.0	79.0	82.0					10																	37419198		1874	4119	5993	37459204	SO:0001819	synonymous_variant	91074	exon3			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.234C>T	10.37:g.37419198C>T			37459204	NM_052997	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	broad.mit.edu	37	10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T	rs529585679		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:37430688C>T	ENST00000602533.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483																																					p.A232V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	10						.						34.0	35.0	35.0					10																	37430688		1876	4105	5981	37470694	SO:0001583	missense	91074	exon7			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.695C>T	10.37:g.37430688C>T	ENSP00000473551:p.Ala232Val		37470694	NM_052997	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	5.177	0.218204	0.09810	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06294	3.32;3.32	0.566	-1.13	0.09775	.	.	.	.	.	T	0.04497	0.0123	L	0.43152	1.355	0.09310	N	1	P	0.42993	0.797	B	0.37692	0.256	T	0.33599	-0.9862	8	0.23302	T	0.38	.	.	.	.	.	288	Q9BXX3	AN30A_HUMAN	V	232	ENSP00000354432:A232V;ENSP00000363792:A232V	ENSP00000354432:A232V	A	+	2	0	ANKRD30A	37470694	0.749000	0.28305	0.037000	0.18230	0.177000	0.22998	-1.289000	0.02780	-1.015000	0.03375	-0.749000	0.03505	GCG		0.483	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ANKRD30A	91074	broad.mit.edu	37	10	37431191	37431191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:37431191G>T	ENST00000602533.1	+	7	1297	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.E400*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E400*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	456					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E400*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTACAAAAGAATCATCTAC	0.378																																					p.E400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1198T	10						.						53.0	50.0	51.0					10																	37431191		1876	4118	5994	37471197	SO:0001587	stop_gained	91074	exon7			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1198G>T	10.37:g.37431191G>T	ENSP00000473551:p.Glu400*		37471197	NM_052997	Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	16.17	3.047849	0.55110	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	0.509	-0.802	0.10889	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	.	.	.	.	.	.	.	X	400	.	ENSP00000354432:E400X	E	+	1	0	ANKRD30A	37471197	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.425000	0.01028	-0.293000	0.08986	-1.368000	0.01194	GAA		0.378	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ZNF248	57209	broad.mit.edu	37	10	38120580	38120580	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38120580C>A	ENST00000395867.3	-	6	2253	c.1703G>T	c.(1702-1704)aGa>aTa	p.R568I	ZNF248_ENST00000357328.4_Missense_Mutation_p.R568I|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	568					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.R568I(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGTGTGAATTCTCTGATGTTT	0.423																																					p.R568I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1703T	10						.						96.0	91.0	93.0					10																	38120580		2203	4300	6503	38160586	SO:0001583	missense	57209	exon6			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1703G>T	10.37:g.38120580C>A	ENSP00000379208:p.Arg568Ile		38160586	NM_021045	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098529	0.56183	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.10005	2.92;2.92	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000048	T	0.26484	0.0647	L	0.61387	1.9	0.54753	D	0.999987	D	0.64830	0.994	P	0.59546	0.859	T	0.00899	-1.1522	10	0.87932	D	0	.	15.1139	0.72384	0.0:1.0:0.0:0.0	.	568	Q8NDW4	ZN248_HUMAN	I	568	ENSP00000379208:R568I;ENSP00000349882:R568I	ENSP00000349882:R568I	R	-	2	0	ZNF248	38160586	0.009000	0.17119	1.000000	0.80357	0.945000	0.59286	0.968000	0.29357	2.509000	0.84616	0.650000	0.86243	AGA		0.423	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ZNF248	57209	broad.mit.edu	37	10	38121941	38121941	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38121941T>G	ENST00000395867.3	-	6	892	c.342A>C	c.(340-342)gaA>gaC	p.E114D	ZNF248_ENST00000357328.4_Missense_Mutation_p.E114D|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	114					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.E114D(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TATCTCCATTTTCTACACTTA	0.363																																					p.E114D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A342C	10						.						78.0	73.0	74.0					10																	38121941		2202	4300	6502	38161947	SO:0001583	missense	57209	exon6			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.342A>C	10.37:g.38121941T>G	ENSP00000379208:p.Glu114Asp		38161947	NM_021045	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	4.113	0.019158	0.08006	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.06218	3.33;3.33	4.86	-2.13	0.07144	.	0.689437	0.12778	N	0.439875	T	0.04003	0.0112	L	0.28400	0.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37526	-0.9702	10	0.48119	T	0.1	.	3.6565	0.08222	0.4037:0.2661:0.0:0.3301	.	114	Q8NDW4	ZN248_HUMAN	D	114	ENSP00000379208:E114D;ENSP00000349882:E114D	ENSP00000349882:E114D	E	-	3	2	ZNF248	38161947	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	-0.581000	0.05820	-0.143000	0.11334	0.460000	0.39030	GAA		0.363	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ZNF25	219749	broad.mit.edu	37	10	38241173	38241173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38241173C>T	ENST00000302609.7	-	6	1465	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	418					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.R418K(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGTGTGTTTTCTCTGATGTAT	0.443																																					p.R418K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1253A	10						.						106.0	105.0	105.0					10																	38241173		2203	4300	6503	38281179	SO:0001583	missense	219749	exon6			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.1253G>A	10.37:g.38241173C>T	ENSP00000302222:p.Arg418Lys		38281179	NM_145011	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839396	0.71488	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.18338	2.22	4.76	3.86	0.44501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000288	T	0.12050	0.0293	N	0.20574	0.59	0.31069	N	0.713264	P	0.38250	0.624	B	0.38985	0.287	T	0.06006	-1.0851	10	0.44086	T	0.13	-44.6275	10.7965	0.46464	0.0:0.9072:0.0:0.0928	.	418	P17030	ZNF25_HUMAN	K	418;382	ENSP00000302222:R418K	ENSP00000302222:R418K	R	-	2	0	ZNF25	38281179	0.006000	0.16342	0.998000	0.56505	0.997000	0.91878	1.737000	0.38197	1.360000	0.45960	0.561000	0.74099	AGA		0.443	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
ZNF25	219749	broad.mit.edu	37	10	38241884	38241884	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38241884T>G	ENST00000302609.7	-	6	754	c.542A>C	c.(541-543)aAa>aCa	p.K181T	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	181					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.K181T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTAAAATATTTTCTTACATTC	0.348																																					p.K181T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A542C	10						.						147.0	151.0	150.0					10																	38241884		2203	4300	6503	38281890	SO:0001583	missense	219749	exon6			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.542A>C	10.37:g.38241884T>G	ENSP00000302222:p.Lys181Thr		38281890	NM_145011	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.318392	0.60524	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.24723	1.84	4.84	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000221	T	0.37073	0.0990	M	0.90922	3.16	0.36252	D	0.853949	B	0.32731	0.382	B	0.33750	0.169	T	0.51553	-0.8691	10	0.87932	D	0	-13.2927	8.7574	0.34654	0.0:0.0906:0.0:0.9094	.	181	P17030	ZNF25_HUMAN	T	181;145	ENSP00000302222:K181T	ENSP00000302222:K181T	K	-	2	0	ZNF25	38281890	1.000000	0.71417	0.974000	0.42286	0.961000	0.63080	7.394000	0.79862	0.995000	0.38917	0.524000	0.50904	AAA		0.348	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	
ZNF37A	7587	broad.mit.edu	37	10	38407287	38407287	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38407287G>T	ENST00000361085.5	+	7	1553	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R403I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R403I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAACATCAAAGAATACACACA	0.403																																					p.R403I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1208T	10						.						51.0	52.0	52.0					10																	38407287		2203	4299	6502	38447293	SO:0001583	missense	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1208G>T	10.37:g.38407287G>T	ENSP00000354377:p.Arg403Ile		38447293	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076920	0.55753	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.02446	4.29;4.29	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	M	0.73372	2.23	0.45607	D	0.998541	D	0.76494	0.999	D	0.71870	0.975	T	0.01596	-1.1316	9	0.72032	D	0.01	.	10.3666	0.44028	0.0:0.0:1.0:0.0	.	403	P17032	ZN37A_HUMAN	I	403	ENSP00000329141:R403I;ENSP00000354377:R403I	ENSP00000329141:R403I	R	+	2	0	ZNF37A	38447293	0.001000	0.12720	0.983000	0.44433	0.793000	0.44817	0.103000	0.15292	1.313000	0.45069	0.591000	0.81541	AGA		0.403	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ZNF37A	7587	broad.mit.edu	37	10	38407471	38407471	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:38407471G>T	ENST00000361085.5	+	7	1737	c.1392G>T	c.(1390-1392)gaG>gaT	p.E464D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.E464D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E464D(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACACAGGGGAGAAACCTTTTG	0.413																																					p.E464D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1392T	10						.						52.0	54.0	54.0					10																	38407471		2203	4299	6502	38447477	SO:0001583	missense	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1392G>T	10.37:g.38407471G>T	ENSP00000354377:p.Glu464Asp		38447477	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122524	0.56613	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.26810	1.71;1.71	2.05	0.927	0.19437	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20901	0.0503	L	0.49256	1.55	0.30466	N	0.773817	P	0.45672	0.864	B	0.38954	0.286	T	0.26950	-1.0088	9	0.72032	D	0.01	.	7.2348	0.26064	0.0:0.0:0.7394:0.2606	.	464	P17032	ZN37A_HUMAN	D	464	ENSP00000329141:E464D;ENSP00000354377:E464D	ENSP00000329141:E464D	E	+	3	2	ZNF37A	38447477	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.205000	0.42770	1.151000	0.42436	0.467000	0.42956	GAG		0.413	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ZNF33B	7582	broad.mit.edu	37	10	43088072	43088072	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43088072G>T	ENST00000359467.3	-	5	2440	c.2326C>A	c.(2326-2328)Cct>Act	p.P776T	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	776					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.P776T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CATTCATAAGGTTTTTCTCCT	0.413																																					p.P776T	Melanoma(137;1247 1767 16772 25727 43810)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2326A	10						.						110.0	106.0	107.0					10																	43088072		2203	4300	6503	42408078	SO:0001583	missense	7582	exon5			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2326C>A	10.37:g.43088072G>T	ENSP00000352444:p.Pro776Thr		42408078	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065154	0.36470	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.20332	2.08	2.5	-4.99	0.03010	Zinc finger, C2H2 (1);	2.749770	0.01634	N	0.023712	T	0.21801	0.0525	L	0.49640	1.575	0.09310	N	0.999995	B	0.30634	0.288	B	0.26969	0.075	T	0.35525	-0.9785	10	0.56958	D	0.05	.	13.2496	0.60043	0.2162:0.0:0.7838:0.0	.	776	Q06732	ZN33B_HUMAN	T	776;742	ENSP00000352444:P776T	ENSP00000352444:P776T	P	-	1	0	ZNF33B	42408078	0.061000	0.20836	0.012000	0.15200	0.657000	0.38888	0.514000	0.22786	-1.293000	0.02362	-0.499000	0.04595	CCT		0.413	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
ZNF33B	7582	broad.mit.edu	37	10	43089168	43089168	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43089168C>A	ENST00000359467.3	-	5	1344	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	410					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.E410D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATAGGGTTTCTCCCCTGTAT	0.433																																					p.E410D	Melanoma(137;1247 1767 16772 25727 43810)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1230T	10						.						97.0	104.0	102.0					10																	43089168		2203	4300	6503	42409174	SO:0001583	missense	7582	exon5			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1230G>T	10.37:g.43089168C>A	ENSP00000352444:p.Glu410Asp		42409174	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912548	0.33721	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.26810	1.71	2.09	2.09	0.27110	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.436144	0.16925	N	0.193912	T	0.24851	0.0603	L	0.33137	0.985	0.24613	N	0.993716	P	0.48694	0.914	P	0.48114	0.567	T	0.07462	-1.0771	10	0.87932	D	0	.	10.3212	0.43767	0.0:1.0:0.0:0.0	.	410	Q06732	ZN33B_HUMAN	D	410;376	ENSP00000352444:E410D	ENSP00000352444:E410D	E	-	3	2	ZNF33B	42409174	0.974000	0.33945	1.000000	0.80357	0.845000	0.48019	0.231000	0.17872	1.514000	0.48869	0.416000	0.27883	GAG		0.433	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
BMS1	9790	broad.mit.edu	37	10	43279900	43279900	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43279900A>C	ENST00000374518.5	+	2	121	c.58A>C	c.(58-60)Aag>Cag	p.K20Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	20					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.K20Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAAAGCTGCAAAGAAAAAGAA	0.453																																					p.K20Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A58C	10						.						58.0	66.0	63.0					10																	43279900		2203	4300	6503	42599906	SO:0001583	missense	9790	exon2			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.58A>C	10.37:g.43279900A>C	ENSP00000363642:p.Lys20Gln		42599906	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035458	0.75617	.	.	ENSG00000165733	ENST00000374518	T	0.14144	2.53	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	H	0.94808	3.585	0.51767	D	0.999935	D	0.89917	1.0	D	0.74023	0.982	T	0.62388	-0.6865	10	0.56958	D	0.05	.	13.9576	0.64160	1.0:0.0:0.0:0.0	.	20	Q14692	BMS1_HUMAN	Q	20	ENSP00000363642:K20Q	ENSP00000363642:K20Q	K	+	1	0	BMS1	42599906	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.947000	0.93000	1.703000	0.51240	0.411000	0.27672	AAG		0.453	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
BMS1	9790	broad.mit.edu	37	10	43292146	43292146	+	Missense_Mutation	SNP	G	G	A	rs147587227		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43292146G>A	ENST00000374518.5	+	10	1517	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	485					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R485Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCATCAAACGACGGAAACTT	0.483																																					p.R485Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1454A	10						.						169.0	154.0	159.0					10																	43292146		2203	4300	6503	42612152	SO:0001583	missense	9790	exon10			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1454G>A	10.37:g.43292146G>A	ENSP00000363642:p.Arg485Gln		42612152	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	g	5.211	0.224469	0.09863	.	.	ENSG00000165733	ENST00000374518	T	0.24723	1.84	5.0	4.09	0.47781	.	0.510391	0.21139	N	0.079501	T	0.20414	0.0491	L	0.44542	1.39	0.09310	N	1	B	0.24768	0.111	B	0.12837	0.008	T	0.12837	-1.0532	10	0.25106	T	0.35	.	11.2055	0.48767	0.1509:0.0:0.8491:0.0	.	485	Q14692	BMS1_HUMAN	Q	485	ENSP00000363642:R485Q	ENSP00000363642:R485Q	R	+	2	0	BMS1	42612152	0.926000	0.31397	0.010000	0.14722	0.021000	0.10359	3.009000	0.49552	1.229000	0.43630	0.580000	0.79431	CGA		0.483	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
BMS1	9790	broad.mit.edu	37	10	43318617	43318617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43318617C>T	ENST00000374518.5	+	20	3247	c.3184C>T	c.(3184-3186)Cga>Tga	p.R1062*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1062					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.R1062*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGCTGTGATTCGAACAGTCAG	0.453																																					p.R1062X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3184T	10						.						77.0	80.0	79.0					10																	43318617		2203	4300	6503	42638623	SO:0001587	stop_gained	9790	exon20			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3184C>T	10.37:g.43318617C>T	ENSP00000363642:p.Arg1062*		42638623	NM_014753	Q5QPT5|Q86XJ9	Nonsense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	42	9.218555	0.99105	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.54	3.62	0.41486	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1251	0.65215	0.1517:0.8483:0.0:0.0	.	.	.	.	X	1062	.	ENSP00000363642:R1062X	R	+	1	2	BMS1	42638623	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.846000	0.69444	1.012000	0.39366	0.454000	0.30748	CGA		0.453	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
RET	5979	broad.mit.edu	37	10	43610160	43610160	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43610160C>A	ENST00000355710.3	+	11	2344	c.2112C>A	c.(2110-2112)gtC>gtA	p.V704V	RET_ENST00000340058.5_Silent_p.V704V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	704					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V704V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGAACCAGGTCTCCGTGGATG	0.682		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												p.V704V	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2112A	10						.						30.0	30.0	30.0					10																	43610160		2203	4300	6503	42930166	SO:0001819	synonymous_variant	5979	exon11	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2112C>A	10.37:g.43610160C>A			42930166	NM_020975	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.682	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
CSGALNACT2	55454	broad.mit.edu	37	10	43651251	43651251	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43651251C>T	ENST00000374466.3	+	2	989	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CSGALNACT2_ENST00000374464.1_Silent_p.F218F	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	218					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.F218F(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAATGACTTCGTAGAAGGTA	0.353																																					p.F218F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654T	10						.						35.0	36.0	36.0					10																	43651251		2203	4297	6500	42971257	SO:0001819	synonymous_variant	55454	exon2			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.654C>T	10.37:g.43651251C>T			42971257	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	CCDS7201.1																																																																																				0.353	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43691985C>T	ENST00000395809.1	-	12	3866	c.1360G>A	c.(1360-1362)Gcc>Acc	p.A454T	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A454T|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A462T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	454	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557																																					p.A454T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1360A	10						.						131.0	121.0	125.0					10																	43691985		2203	4300	6503	43011991	SO:0001583	missense	221002	exon12			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1360G>A	10.37:g.43691985C>T	ENSP00000379154:p.Ala454Thr		43011991	NM_145313	Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	32	5.162848	0.94727	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.30981	1.51;1.51;1.51	5.14	5.14	0.70334	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.45175	0.1329	M	0.61703	1.905	0.80722	D	1	P;P	0.50819	0.807;0.939	B;P	0.50314	0.356;0.637	T	0.44283	-0.9338	10	0.59425	D	0.04	.	18.9656	0.92695	0.0:1.0:0.0:0.0	.	454;462	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	T	462;454;454	ENSP00000363583:A462T;ENSP00000379155:A454T;ENSP00000379154:A454T	ENSP00000363583:A462T	A	-	1	0	RASGEF1A	43011991	1.000000	0.71417	0.958000	0.39756	0.922000	0.55478	7.403000	0.79983	2.550000	0.86006	0.462000	0.41574	GCC		0.557	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313	
HNRNPF	3185	broad.mit.edu	37	10	43882987	43882987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:43882987G>A	ENST00000544000.1	-	4	753	c.346C>T	c.(346-348)Cga>Tga	p.R116*	HNRNPF_ENST00000337970.3_Nonsense_Mutation_p.R116*|HNRNPF_ENST00000443950.2_Nonsense_Mutation_p.R116*|HNRNPF_ENST00000357065.4_Nonsense_Mutation_p.R116*|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Nonsense_Mutation_p.R116*	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	116	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.	Interaction with RNA.			gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.R116*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGGAGTCCTCGAAGCCGCACG	0.527																																					p.R116X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C346T	10						.						129.0	109.0	115.0					10																	43882987		2203	4300	6503	43202993	SO:0001587	stop_gained	3185	exon3				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.346C>T	10.37:g.43882987G>A	ENSP00000438061:p.Arg116*		43202993	NM_001098208	B3KM84|Q5T0N2|Q96AU2	Nonsense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365569	0.95900	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	.	.	.	4.04	4.04	0.47022	.	0.122716	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2152	14.4937	0.67670	0.0:0.0:1.0:0.0	.	.	.	.	X	116;116;116;116;116;39	.	ENSP00000338477:R116X	R	-	1	2	HNRNPF	43202993	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.140000	0.58031	2.539000	0.85634	0.655000	0.94253	CGA		0.527	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
ZNF239	8187	broad.mit.edu	37	10	44052379	44052379	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:44052379A>C	ENST00000306006.6	-	2	1801	c.1149T>G	c.(1147-1149)ggT>ggG	p.G383G	ZNF239_ENST00000426961.1_Silent_p.G383G|ZNF239_ENST00000535642.1_Silent_p.G383G|ZNF239_ENST00000374446.2_Silent_p.G383G|ZNF239_ENST00000491188.1_5'Flank	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G383G(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTGGCTGAAACCCTTCCCAC	0.532																																					p.G383G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1149G	10						.						102.0	111.0	108.0					10																	44052379		2197	4300	6497	43372385	SO:0001819	synonymous_variant	8187	exon2			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.1149T>G	10.37:g.44052379A>C			43372385	NM_001099283	Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	CCDS41502.1																																																																																				0.532	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
ZNF239	8187	broad.mit.edu	37	10	44053363	44053363	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:44053363G>A	ENST00000306006.6	-	2	817	c.165C>T	c.(163-165)ttC>ttT	p.F55F	ZNF239_ENST00000426961.1_Silent_p.F55F|ZNF239_ENST00000535642.1_Silent_p.F55F|ZNF239_ENST00000374446.2_Silent_p.F55F|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	55					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F55F(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAATGTTTTCGAAACAACCAC	0.413																																					p.F55F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	10						.						136.0	122.0	127.0					10																	44053363		1896	4121	6017	43373369	SO:0001819	synonymous_variant	8187	exon2			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.165C>T	10.37:g.44053363G>A			43373369	NM_001099283	Q5T1G9|Q8TAS5	Silent	SNP	ENST00000306006.6	37	CCDS41502.1																																																																																				0.413	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1		
ZNF32	7580	broad.mit.edu	37	10	44140135	44140135	+	Missense_Mutation	SNP	G	G	A	rs144676378	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:44140135G>A	ENST00000395797.1	-	3	373	c.185C>T	c.(184-186)tCg>tTg	p.S62L	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_Missense_Mutation_p.S62L	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	62					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.S62L(3)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TAGTGTCTTCGAATCTGGGGA	0.458													G|||	4	0.000798722	0.0	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.0041				p.S62L												.	.	3	Substitution - Missense(3)	large_intestine(2)|NS(1)	c.C185T	10						.						117.0	121.0	119.0					10																	44140135		2203	4300	6503	43460141	SO:0001583	missense	7580	exon3			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.185C>T	10.37:g.44140135G>A	ENSP00000379143:p.Ser62Leu		43460141	NM_006973	Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791948	0.31685	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.11930	2.73;2.73	4.64	2.75	0.32379	.	0.725568	0.11965	N	0.512321	T	0.06826	0.0174	N	0.08118	0	0.30656	N	0.754935	B	0.19073	0.033	B	0.04013	0.001	T	0.13764	-1.0497	10	0.62326	D	0.03	-0.0423	5.7493	0.18138	0.0975:0.0:0.7112:0.1913	.	62	P17041	ZNF32_HUMAN	L	62	ENSP00000363556:S62L;ENSP00000379143:S62L	ENSP00000363556:S62L	S	-	2	0	ZNF32	43460141	0.026000	0.19158	0.998000	0.56505	0.768000	0.43524	0.696000	0.25541	0.844000	0.35094	0.655000	0.94253	TCG		0.458	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973	
TMEM72	643236	broad.mit.edu	37	10	45423376	45423376	+	Intron	SNP	C	C	T	rs532437325	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:45423376C>T	ENST00000544540.1	+	2	267				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)		p.I26I(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TAGTGTTGATCGGCGTGGGCA	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		18062	0.001		0.0	False		,,,				2504	0.001				p.I26I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C78T	10						.						200.0	176.0	184.0					10																	45423376		1568	3582	5150	44743382	SO:0001627	intron_variant	643236	exon2			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-217-4070C>T	10.37:g.45423376C>T			44743382	NM_001123376	A1L181|Q5T740	Silent	SNP	ENST00000544540.1	37																																																																																					0.537	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376	
MARCH8	220972	broad.mit.edu	37	10	45953749	45953749	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:45953749C>T	ENST00000319836.3	-	7	1563	c.814G>A	c.(814-816)Gac>Aac	p.D272N	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000453424.2_Missense_Mutation_p.D554N|MARCH8_ENST00000395769.2_Missense_Mutation_p.D272N|MARCH8_ENST00000395771.3_Missense_Mutation_p.D272N	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	272					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D272N(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GAGTTTGTGTCGGAATGACAG	0.398																																					p.D272N	NSCLC(102;658 1594 2173 16344 34808)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	10						.						103.0	102.0	102.0					10																	45953749		2203	4300	6503	45273755	SO:0001583	missense	220972	exon7			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.814G>A	10.37:g.45953749C>T	ENSP00000317087:p.Asp272Asn		45273755	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.47|17.47	3.396502|3.396502	0.62177|0.62177	.|.	.|.	ENSG00000165406|ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769|ENST00000453424	T;T;T|.	0.13307|.	2.6;2.6;2.6|.	5.67|5.67	2.79|2.79	0.32731|0.32731	.|.	0.183568|.	0.45867|.	D|.	0.000324|.	T|T	0.53642|0.53642	0.1809|0.1809	L|L	0.44542|0.44542	1.39|1.39	0.47094|0.47094	D|D	0.999312|0.999312	B;D|.	0.57899|.	0.322;0.981|.	B;P|.	0.48738|.	0.102;0.588|.	T|T	0.40942|0.40942	-0.9536|-0.9536	10|5	0.27082|.	T|.	0.32|.	-22.4651|-22.4651	8.8785|8.8785	0.35360|0.35360	0.0:0.7495:0.0:0.2505|0.0:0.7495:0.0:0.2505	.|.	272;436|.	Q5T0T0;Q5JQ16|.	MARH8_HUMAN;.|.	N|Q	272|436	ENSP00000379118:D272N;ENSP00000317087:D272N;ENSP00000379116:D272N|.	ENSP00000317087:D272N|.	D|R	-|-	1|2	0|0	MARCH8|MARCH8	45273755|45273755	0.999000|0.999000	0.42202|0.42202	0.414000|0.414000	0.26521|0.26521	0.913000|0.913000	0.54294|0.54294	4.089000|4.089000	0.57685|0.57685	0.323000|0.323000	0.23307|0.23307	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.398	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
ZFAND4	93550	broad.mit.edu	37	10	46121867	46121867	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:46121867C>A	ENST00000344646.5	-	7	1619	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Missense_Mutation_p.K394N|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	468							zinc ion binding (GO:0008270)	p.K468N(1)									AGAGTCTATTCTTGTGAGGAC	0.453																																					p.K468N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1404T	10						.						158.0	161.0	160.0					10																	46121867		2203	4300	6503	45441873	SO:0001583	missense	93550	exon7			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1404G>T	10.37:g.46121867C>A	ENSP00000339484:p.Lys468Asn		45441873	NM_001128324	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199719	0.38905	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.29917	1.55;1.56	5.48	4.57	0.56435	.	1.849610	0.05172	U	0.499753	T	0.36880	0.0983	M	0.67953	2.075	0.32402	N	0.551824	P	0.46706	0.883	B	0.41135	0.348	T	0.40664	-0.9551	10	0.56958	D	0.05	-36.3126	8.2057	0.31454	0.0:0.8216:0.0:0.1784	.	468	Q86XD8	ANUB1_HUMAN	N	468;394;350	ENSP00000339484:K468N;ENSP00000363486:K394N	ENSP00000339484:K468N	K	-	3	2	ANUBL1	45441873	0.998000	0.40836	0.988000	0.46212	0.990000	0.78478	0.372000	0.20467	1.319000	0.45190	0.561000	0.74099	AAG		0.453	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	
ZFAND4	93550	broad.mit.edu	37	10	46122403	46122403	+	Missense_Mutation	SNP	C	C	T	rs114572261	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:46122403C>T	ENST00000344646.5	-	7	1083	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Missense_Mutation_p.E216K|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	290							zinc ion binding (GO:0008270)	p.E290K(1)									CTGGAGATTTCGGGCGGATAT	0.443													C|||	26	0.00519169	0.0189	0.0014	5008	,	,		19399	0.0		0.0	False		,,,				2504	0.0				p.E290K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	10						.	C	LYS/GLU,LYS/GLU	70,4336	63.5+/-100.7	0,70,2133	111.0	105.0	107.0		868,868	5.6	0.5	10	dbSNP_132	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	56,56	0,71,6432	TT,TC,CC		0.0116,1.5887,0.5459	benign,benign	290/728,290/728	46122403	71,12935	2203	4300	6503	45442409	SO:0001583	missense	93550	exon7			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.868G>A	10.37:g.46122403C>T	ENSP00000339484:p.Glu290Lys		45442409	NM_001128324	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	C	13.33	2.206158	0.39003	0.015887	1.16E-4	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.25085	1.82;1.83	5.62	5.62	0.85841	.	1.225110	0.05778	N	0.608038	T	0.13200	0.0320	L	0.59436	1.845	0.43803	D	0.996356	P	0.49358	0.923	B	0.37692	0.256	T	0.41538	-0.9503	10	0.72032	D	0.01	-31.708	17.1646	0.86812	0.0:1.0:0.0:0.0	.	290	Q86XD8	ANUB1_HUMAN	K	290;216;172	ENSP00000339484:E290K;ENSP00000363486:E216K	ENSP00000339484:E290K	E	-	1	0	ANUBL1	45442409	0.976000	0.34144	0.540000	0.28089	0.018000	0.09664	5.549000	0.67261	2.651000	0.90000	0.650000	0.86243	GAA		0.443	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890	
NPY4R	5540	broad.mit.edu	37	10	47086868	47086868	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:47086868A>G	ENST00000395716.1	+	2	170	c.85A>G	c.(85-87)Aac>Gac	p.N29D	NPY4R_ENST00000374312.1_Missense_Mutation_p.N29D			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	29					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.N29D(1)									CACCCCATACAACTTCTCTGA	0.517																																					p.N29D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A85G	10						.						158.0	146.0	150.0					10																	47086868		2203	4300	6503	46506874	SO:0001583	missense	5540	exon3				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.85A>G	10.37:g.47086868A>G	ENSP00000379066:p.Asn29Asp		46506874	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	A	3.783	-0.045239	0.07452	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.36520	1.25;1.25	4.78	3.64	0.41730	.	1.362600	0.04808	N	0.434704	T	0.36635	0.0974	M	0.65975	2.015	0.25319	N	0.989134	B	0.15141	0.012	B	0.12156	0.007	T	0.38693	-0.9649	10	0.11794	T	0.64	.	7.4156	0.27042	0.8984:0.0:0.1016:0.0	.	29	P50391	NPY4R_HUMAN	D	29	ENSP00000363431:N29D;ENSP00000379066:N29D	ENSP00000363431:N29D	N	+	1	0	PPYR1	46506874	0.908000	0.30866	0.721000	0.30653	0.223000	0.24884	1.629000	0.37071	0.940000	0.37473	0.533000	0.62120	AAC		0.517	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
NPY4R	5540	broad.mit.edu	37	10	47087502	47087502	+	Missense_Mutation	SNP	G	G	A	rs139014994		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:47087502G>A	ENST00000395716.1	+	2	804	c.719G>A	c.(718-720)cGc>cAc	p.R240H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R240H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	240			R -> C (in dbSNP:rs3824733). {ECO:0000269|Ref.6}.		blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.R240H(1)									ATCTACCGGCGCCTGCAGAGG	0.607																																					p.R240H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719A	10						.	G	HIS/ARG	0,4406		0,0,2203	153.0	129.0	137.0		719	4.2	1.0	10	dbSNP_134	137	3,8597	3.0+/-9.4	0,3,4297	no	missense	PPYR1	NM_005972.4	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	240/376	47087502	3,13003	2203	4300	6503	46507508	SO:0001583	missense	5540	exon3				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.719G>A	10.37:g.47087502G>A	ENSP00000379066:p.Arg240His		46507508	NM_005972	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746607	0.49257	0.0	3.49E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37752	1.18;1.18	5.12	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.116071	0.64402	N	0.000009	T	0.30916	0.0780	L	0.35793	1.09	0.80722	D	1	B	0.30439	0.279	B	0.34931	0.192	T	0.11717	-1.0576	10	0.49607	T	0.09	.	10.9494	0.47321	0.0968:0.0:0.9032:0.0	.	240	P50391	NPY4R_HUMAN	H	240	ENSP00000363431:R240H;ENSP00000379066:R240H	ENSP00000363431:R240H	R	+	2	0	PPYR1	46507508	1.000000	0.71417	0.970000	0.41538	0.618000	0.37518	4.580000	0.60942	1.241000	0.43820	0.609000	0.83330	CGC		0.607	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1		
FAM21A	387680	broad.mit.edu	37	10	47922315	47922315	+	Silent	SNP	C	C	T	rs377497548		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:47922315C>T	ENST00000358474.5	+	17	1554	c.1554C>T	c.(1552-1554)tcC>tcT	p.S518S		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		518					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.S518S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CAAAAGCCTCCGAGCTCTCCA	0.438																																					p.S518S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1554T	10						.	C		0,1148		0,0,574	27.0	31.0	30.0		1554	-5.5	0.0	10		30	2,4840		1,0,2420	no	coding-synonymous	FAM21B	NM_018232.1		1,0,2994	TT,TC,CC		0.0413,0.0,0.0334		518/1254	47922315	2,5988	574	2421	2995	47442321	SO:0001819	synonymous_variant	55747	exon17																														ENST00000358474.5:c.1554C>T	10.37:g.47922315C>T			47442321	NM_018232		Silent	SNP	ENST00000358474.5	37	CCDS44379.1																																																																																				0.438	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2		
RBP3	5949	broad.mit.edu	37	10	48388066	48388066	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:48388066G>A	ENST00000224600.4	-	1	2925	c.2812C>T	c.(2812-2814)Ccc>Tcc	p.P938S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	938	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.P938S(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCACCGTGGGCACCTTGGCA	0.637																																					p.P938S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2812T	10						.						53.0	52.0	52.0					10																	48388066		2203	4300	6503	48008072	SO:0001583	missense	5949	exon1			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2812C>T	10.37:g.48388066G>A	ENSP00000224600:p.Pro938Ser		48008072	NM_002900	Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388318	0.42308	.	.	ENSG00000107618	ENST00000224600	T	0.71103	-0.54	5.56	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.84862	0.5566	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87077	0.2163	10	0.66056	D	0.02	-43.4495	13.7306	0.62785	0.074:0.0:0.926:0.0	.	938	P10745	RET3_HUMAN	S	938	ENSP00000224600:P938S	ENSP00000224600:P938S	P	-	1	0	RBP3	48008072	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.996000	0.63914	1.375000	0.46248	-0.137000	0.14449	CCC		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607																																					p.F336F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	10						.						72.0	71.0	72.0					10																	48413860		2203	4300	6503	48033866	SO:0001819	synonymous_variant	2658	exon2			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1008C>T	10.37:g.48413860G>A			48033866	NM_016204	Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	CCDS7219.1																																																																																				0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204	
FRMPD2	143162	broad.mit.edu	37	10	49393619	49393619	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:49393619T>C	ENST00000374201.3	-	18	2638	c.2336A>G	c.(2335-2337)aAa>aGa	p.K779R	FRMPD2_ENST00000305531.3_Missense_Mutation_p.K754R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.K747R	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	779	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.K779R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGGTCACGTTTCAGTGTCAC	0.507																																					p.K779R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2336G	10						.						186.0	158.0	167.0					10																	49393619		2203	4300	6503	49063625	SO:0001583	missense	143162	exon18			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2336A>G	10.37:g.49393619T>C	ENSP00000363317:p.Lys779Arg		49063625	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011570	0.35511	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28069	1.63;1.63;1.63	5.29	-3.67	0.04476	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.23688	0.0573	L	0.49640	1.575	0.09310	N	1	B;B;B	0.22480	0.002;0.07;0.002	B;B;B	0.23419	0.004;0.046;0.004	T	0.30736	-0.9968	9	0.35671	T	0.21	.	7.3335	0.26596	0.0:0.1367:0.1268:0.7365	.	754;779;747	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	R	779;754;747	ENSP00000363317:K779R;ENSP00000307079:K754R;ENSP00000384339:K747R	ENSP00000307079:K754R	K	-	2	0	FRMPD2	49063625	0.031000	0.19500	0.007000	0.13788	0.036000	0.12997	-0.719000	0.04974	-0.638000	0.05509	0.533000	0.62120	AAA		0.507	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
MAPK8	5599	broad.mit.edu	37	10	49617976	49617976	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:49617976G>T	ENST00000374189.1	+	4	488	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	MAPK8_ENST00000374182.3_Missense_Mutation_p.D103Y|MAPK8_ENST00000395611.3_Missense_Mutation_p.D103Y|MAPK8_ENST00000360332.3_Missense_Mutation_p.D103Y|MAPK8_ENST00000374174.1_Missense_Mutation_p.D103Y			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.D103Y(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGAATTTCAAGATGTGTAAGT	0.289																																					p.D103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307T	10						.						44.0	48.0	46.0					10																	49617976		2197	4298	6495	49287982	SO:0001583	missense	5599	exon3			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.307G>T	10.37:g.49617976G>T	ENSP00000363304:p.Asp103Tyr		49287982	NM_002750	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616816	0.87359	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.99;0.998;0.998;0.99	T	0.78198	-0.2297	10	0.87932	D	0	.	19.767	0.96349	0.0:0.0:1.0:0.0	.	103;103;103;103;103	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	Y	103;20;103;103;103;103;103;103;103;103	ENSP00000387936:D103Y;ENSP00000393223:D20Y;ENSP00000363304:D103Y;ENSP00000397729:D103Y;ENSP00000363297:D103Y;ENSP00000363294:D103Y;ENSP00000353483:D103Y;ENSP00000363291:D103Y;ENSP00000363289:D103Y;ENSP00000378974:D103Y	ENSP00000353483:D103Y	D	+	1	0	MAPK8	49287982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.812000	0.99227	2.751000	0.94390	0.650000	0.86243	GAT		0.289	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
MAPK8	5599	broad.mit.edu	37	10	49632628	49632628	+	Intron	SNP	C	C	A	rs576809977		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:49632628C>A	ENST00000374189.1	+	7	869				MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000374174.1_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.H230N(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGGTACAGATCGTATCCTTAT	0.363																																					p.H230N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688A	10						.						188.0	172.0	178.0					10																	49632628		2203	4300	6503	49302634	SO:0001627	intron_variant	5599	exon6			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+426C>A	10.37:g.49632628C>A			49302634	NM_139046	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362131	0.61403	.	.	ENSG00000107643	ENST00000374179;ENST00000374176	T;T	0.63580	-0.05;-0.05	5.68	5.68	0.88126	.	0.423213	0.28459	N	0.015276	T	0.48857	0.1523	N	0.05351	-0.065	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.23150	0.044;0.016	T	0.46707	-0.9172	10	0.87932	D	0	.	20.1412	0.98058	0.0:1.0:0.0:0.0	.	230;230	A1L4K2;P45983-3	.;.	N	230	ENSP00000363294:H230N;ENSP00000363291:H230N	ENSP00000363291:H230N	H	+	1	0	MAPK8	49302634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.740000	0.84986	2.838000	0.97847	0.585000	0.79938	CAT		0.363	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
MAPK8	5599	broad.mit.edu	37	10	49634510	49634510	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:49634510A>G	ENST00000374189.1	+	9	1140	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	MAPK8_ENST00000374182.3_Missense_Mutation_p.Y320C|MAPK8_ENST00000395611.3_Missense_Mutation_p.Y244C|MAPK8_ENST00000360332.3_Missense_Mutation_p.Y320C			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.Y320C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CAACACCCGTACATCAATGTC	0.378																																					p.Y320C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A959G	10						.						118.0	107.0	111.0					10																	49634510		2203	4300	6503	49304516	SO:0001583	missense	5599	exon8			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.959A>G	10.37:g.49634510A>G	ENSP00000363304:p.Tyr320Cys		49304516	NM_002750	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535577	0.85812	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000395611	T;T;T;T;T;D	0.83837	-0.34;-0.34;-0.34;-0.34;-0.34;-1.77	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	M	0.91300	3.195	0.41450	D	0.987971	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.984;0.999;1.0;1.0;0.999	D	0.94536	0.7740	10	0.87932	D	0	.	16.175	0.81844	1.0:0.0:0.0:0.0	.	244;320;320;320;320	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	C	320;320;320;320;320;244	ENSP00000363304:Y320C;ENSP00000363297:Y320C;ENSP00000363294:Y320C;ENSP00000353483:Y320C;ENSP00000363291:Y320C;ENSP00000378974:Y244C	ENSP00000353483:Y320C	Y	+	2	0	MAPK8	49304516	1.000000	0.71417	0.747000	0.31113	0.992000	0.81027	9.283000	0.95860	2.274000	0.75844	0.528000	0.53228	TAC		0.378	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
VSTM4	196740	broad.mit.edu	37	10	50315817	50315817	+	Silent	SNP	G	G	A	rs111748147	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50315817G>A	ENST00000332853.4	-	2	302	c.279C>T	c.(277-279)agC>agT	p.S93S	VSTM4_ENST00000298454.3_Silent_p.S93S	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	93	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S93S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GCCGTTTGGCGCTGCGGCTGA	0.612													g|||	36	0.0071885	0.0257	0.0029	5008	,	,		17400	0.0		0.0	False		,,,				2504	0.0				p.S93S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C279T	10						.	A	,	84,4322	71.4+/-109.4	2,80,2121	63.0	64.0	63.0		279,279	-10.7	0.0	10	dbSNP_132	63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	VSTM4	NM_001031746.3,NM_144984.2	,	2,82,6419	AA,AG,GG		0.0233,1.9065,0.6612	,	93/321,93/192	50315817	86,12920	2203	4300	6503	49985823	SO:0001819	synonymous_variant	196740	exon2			BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.279C>T	10.37:g.50315817G>A			49985823	NM_144984	B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	CCDS31198.1																																																																																				0.612	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984	
ERCC6	2074	broad.mit.edu	37	10	50666882	50666882	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50666882T>C	ENST00000355832.5	-	21	4539	c.4461A>G	c.(4459-4461)aaA>aaG	p.K1487K	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Silent_p.K857K|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1487					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.K1487K(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGGCTTGAGTTTCCAAATTC	0.353								Direct reversal of damage;Nucleotide excision repair (NER)																													p.K1487K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4461G	10						.						123.0	126.0	125.0					10																	50666882		2203	4300	6503	50336888	SO:0001819	synonymous_variant	2074	exon21			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4461A>G	10.37:g.50666882T>C			50336888	NM_000124	D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	CCDS7229.1																																																																																				0.353	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
ERCC6	2074	broad.mit.edu	37	10	50667133	50667133	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50667133G>A	ENST00000355832.5	-	21	4288	c.4210C>T	c.(4210-4212)Cgt>Tgt	p.R1404C	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.R774C|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1404	Ubiquitin-binding domain (UBD).				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R1404C(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTTCTAAACGCTCTGGCAGA	0.522								Direct reversal of damage;Nucleotide excision repair (NER)																													p.R1404C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4210T	10						.						94.0	98.0	97.0					10																	50667133		2203	4300	6503	50337139	SO:0001583	missense	2074	exon21			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4210C>T	10.37:g.50667133G>A	ENSP00000348089:p.Arg1404Cys		50337139	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453786	0.43531	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.83992	-1.79;-1.53	5.73	3.62	0.41486	.	.	.	.	.	T	0.81650	0.4867	M	0.76838	2.35	0.53688	D	0.999974	B;B	0.23490	0.086;0.018	B;B	0.12837	0.008;0.003	T	0.81228	-0.1028	9	0.56958	D	0.05	-10.7434	11.6257	0.51145	0.0745:0.0:0.7556:0.1699	.	1404;781	Q03468;Q59FF6	ERCC6_HUMAN;.	C	1404;781;774	ENSP00000348089:R1404C;ENSP00000445134:R774C	ENSP00000348089:R1404C	R	-	1	0	ERCC6	50337139	0.173000	0.23056	0.955000	0.39395	0.740000	0.42216	0.730000	0.26043	1.558000	0.49541	0.655000	0.94253	CGT		0.522	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PGBD3	267004	broad.mit.edu	37	10	50723687	50723687	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50723687C>T	ENST00000374127.3	-	2	1675	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	PGBD3_ENST00000508005.2_Missense_Mutation_p.E492K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E960K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E960K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E960K|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	492								p.E492K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGACCAGTTCGAAACAGAAC	0.418																																					p.E492K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1474A	10						.						125.0	119.0	121.0					10																	50723687		2203	4300	6503	50393693	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1474G>A	10.37:g.50723687C>T	ENSP00000363242:p.Glu492Lys		50393693	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264456	0.59431	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	0.706	-0.386	0.12466	.	.	.	.	.	T	0.19725	0.0474	N	0.24115	0.695	0.09310	N	1	B;D	0.58970	0.046;0.984	B;P	0.55087	0.001;0.768	T	0.15752	-1.0426	8	0.40728	T	0.16	-14.0221	.	.	.	.	960;492	E7EV46;Q8N328	.;PGBD3_HUMAN	K	492;492;960;960	ENSP00000363242:E492K;ENSP00000426963:E492K;ENSP00000423550:E960K;ENSP00000387966:E960K	ENSP00000387966:E960K	E	-	1	0	PGBD3;RP11-123B3.6	50393693	0.930000	0.31532	0.003000	0.11579	0.874000	0.50279	1.663000	0.37429	-0.183000	0.10585	-0.339000	0.08088	GAA		0.418	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
PGBD3	267004	broad.mit.edu	37	10	50724310	50724310	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50724310T>G	ENST00000374127.3	-	2	1052	c.851A>C	c.(850-852)cAa>cCa	p.Q284P	PGBD3_ENST00000508005.2_Missense_Mutation_p.Q284P|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.Q752P|PGBD3_ENST00000603152.1_Missense_Mutation_p.Q752P|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.Q752P|ERCC6_ENST00000355832.5_Intron	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	284								p.Q284P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCGAATAAATTGTTTGCACCC	0.413																																					p.Q284P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A851C	10						.						42.0	39.0	40.0					10																	50724310		2203	4300	6503	50394316	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.851A>C	10.37:g.50724310T>G	ENSP00000363242:p.Gln284Pro		50394316	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.532285	0.27387	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	0.468	0.468	0.16732	.	.	.	.	.	T	0.42630	0.1211	M	0.79123	2.44	0.09310	N	1	B;D	0.76494	0.274;0.999	B;D	0.87578	0.098;0.998	T	0.13469	-1.0508	8	0.72032	D	0.01	-5.3336	.	.	.	.	752;284	E7EV46;Q8N328	.;PGBD3_HUMAN	P	284;284;752;752	ENSP00000363242:Q284P;ENSP00000426963:Q284P;ENSP00000423550:Q752P;ENSP00000387966:Q752P	ENSP00000387966:Q752P	Q	-	2	0	PGBD3;RP11-123B3.6	50394316	0.990000	0.36364	0.003000	0.11579	0.003000	0.03518	2.665000	0.46791	0.413000	0.25759	0.402000	0.26972	CAA		0.413	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
ERCC6	2074	broad.mit.edu	37	10	50736558	50736558	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50736558T>C	ENST00000355832.5	-	4	635	c.557A>G	c.(556-558)aAa>aGa	p.K186R	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.K186R|PGBD3_ENST00000603152.1_Missense_Mutation_p.K186R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.K186R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	186					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.K186R(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGATCTTTTTTAGCTGTTG	0.373								Direct reversal of damage;Nucleotide excision repair (NER)																													p.K186R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557G	10						.						143.0	129.0	134.0					10																	50736558		2203	4300	6503	50406564	SO:0001583	missense	2074	exon4			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.557A>G	10.37:g.50736558T>C	ENSP00000348089:p.Lys186Arg		50406564	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389022	0.82902	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86769	-2.17;2.55;2.55	5.51	4.39	0.52855	.	.	.	.	.	D	0.86548	0.5959	M	0.74258	2.255	0.80722	D	1	P;B	0.48503	0.911;0.125	B;B	0.43809	0.432;0.056	D	0.86913	0.2062	9	0.49607	T	0.09	-35.4757	10.5635	0.45159	0.0:0.0763:0.0:0.9237	.	186;186	E7EV46;Q03468	.;ERCC6_HUMAN	R	186	ENSP00000348089:K186R;ENSP00000423550:K186R;ENSP00000387966:K186R	ENSP00000348089:K186R	K	-	2	0	ERCC6;RP11-123B3.6	50406564	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.893000	0.48633	2.081000	0.62600	0.533000	0.62120	AAA		0.373	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
CHAT	1103	broad.mit.edu	37	10	50873015	50873015	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50873015C>T	ENST00000337653.2	+	15	2323	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	CHAT_ENST00000395559.2_Silent_p.L606L|CHAT_ENST00000395562.2_Silent_p.L642L|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000339797.1_Silent_p.L606L|CHAT_ENST00000351556.3_Silent_p.L606L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	724					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.L724L(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCTCTGCAGTCTGCTGCCGCC	0.507																																					p.L606L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1816T	10						.						97.0	95.0	96.0					10																	50873015		2203	4300	6503	50543021	SO:0001819	synonymous_variant	1103	exon15			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2170C>T	10.37:g.50873015C>T			50543021	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.507	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
OGDHL	55753	broad.mit.edu	37	10	50952740	50952740	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50952740T>G	ENST00000374103.4	-	13	1773	c.1688A>C	c.(1687-1689)aAa>aCa	p.K563T	OGDHL_ENST00000432695.1_Missense_Mutation_p.K354T|OGDHL_ENST00000419399.1_Missense_Mutation_p.K506T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	563					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.K563T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGAATCTTTTTATCCTTGGA	0.532																																					p.K506T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1517C	10						.						135.0	129.0	131.0					10																	50952740		2203	4300	6503	50622746	SO:0001583	missense	55753	exon12			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1688A>C	10.37:g.50952740T>G	ENSP00000363216:p.Lys563Thr		50622746	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014774	0.54468	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95949	-3.86;-3.86;-3.86	5.6	5.6	0.85130	Dehydrogenase, E1 component (1);	0.150331	0.64402	D	0.000018	D	0.88887	0.6559	N	0.02854	-0.475	0.51482	D	0.999924	B;B;B	0.17038	0.006;0.003;0.02	B;B;B	0.25987	0.039;0.039;0.065	D	0.85088	0.0950	10	0.45353	T	0.12	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	506;354;563	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	563;506;354	ENSP00000363216:K563T;ENSP00000401356:K506T;ENSP00000390240:K354T	ENSP00000363216:K563T	K	-	2	0	OGDHL	50622746	1.000000	0.71417	0.290000	0.24890	0.949000	0.60115	7.997000	0.88414	2.266000	0.75297	0.528000	0.53228	AAA		0.532	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
OGDHL	55753	broad.mit.edu	37	10	50954894	50954894	+	Missense_Mutation	SNP	C	C	T	rs199864072		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:50954894C>T	ENST00000374103.4	-	10	1283	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	OGDHL_ENST00000432695.1_Missense_Mutation_p.A191T|OGDHL_ENST00000419399.1_Missense_Mutation_p.A343T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	400					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGCAAAGGCGGCGTCCCCA	0.632																																					p.A343T												.	.	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)	c.G1027A	10						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	114.0	84.0	94.0		1027,571,1198	5.8	1.0	10		94	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	343/954,191/802,400/1011	50954894	2,13004	2203	4300	6503	50624900	SO:0001583	missense	55753	exon9			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1198G>A	10.37:g.50954894C>T	ENSP00000363216:p.Ala400Thr		50624900	NM_001143996	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554669	0.96501	0.0	2.33E-4	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.97831	-4.56;-4.56;-4.56	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.986;0.975;0.995	D	0.98581	1.0650	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	343;191;400	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	400;343;191	ENSP00000363216:A400T;ENSP00000401356:A343T;ENSP00000390240:A191T	ENSP00000363216:A400T	A	-	1	0	OGDHL	50624900	1.000000	0.71417	0.969000	0.41365	0.734000	0.41952	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GCC		0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	
NCOA4	8031	broad.mit.edu	37	10	51585586	51585586	+	Missense_Mutation	SNP	G	G	A	rs139624796	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:51585586G>A	ENST00000443446.1	+	8	1914	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000452682.1_Missense_Mutation_p.R578Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R462Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R578Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R562Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R562Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R396Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	562					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R578Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCTGCTTCGAAAGAAGGCC	0.448			T	RET	papillary thyroid								.|||	4	0.000798722	0.0023	0.0014	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.0				p.R578Q			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1733A	10						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,4391		0,5,2193	47.0	51.0	49.0		1733,1733,1685,1685,1685	5.9	1.0	10	dbSNP_134	49	0,8554		0,0,4277	yes	missense,missense,missense,missense,missense	NCOA4	NM_001145260.1,NM_001145261.1,NM_001145262.1,NM_001145263.1,NM_005437.3	43,43,43,43,43	0,5,6470	AA,AG,GG		0.0,0.1137,0.0386	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	578/651,578/631,562/615,562/615,562/615	51585586	5,12945	2198	4277	6475	51255592	SO:0001583	missense	8031	exon9			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1685G>A	10.37:g.51585586G>A	ENSP00000390713:p.Arg562Gln		51255592	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	18.89	3.720117	0.68844	0.001137	0.0	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.93	5.93	0.95920	.	0.267719	0.33959	N	0.004394	T	0.46658	0.1404	L	0.51422	1.61	0.32488	N	0.540631	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	P;P;P;P	0.61275	0.886;0.838;0.838;0.735	T	0.52351	-0.8587	9	.	.	.	-10.8638	15.478	0.75501	0.0679:0.0:0.9321:0.0	.	462;578;578;562	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Q	578;578;462;562;396;562;562	ENSP00000405146:R578Q;ENSP00000395465:R578Q;ENSP00000393053:R462Q;ENSP00000363200:R562Q;ENSP00000411018:R396Q;ENSP00000344552:R562Q;ENSP00000390713:R562Q	.	R	+	2	0	NCOA4	51255592	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	4.827000	0.62723	2.821000	0.97095	0.555000	0.69702	CGA		0.448	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437	
A1CF	29974	broad.mit.edu	37	10	52610439	52610439	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:52610439T>G	ENST00000373993.1	-	2	144				A1CF_ENST00000374001.2_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.T37P|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000395489.2_Missense_Mutation_p.T22P			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T37P(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCCAGCAAAGTTTGCAAAATG	0.433																																					p.T37P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A109C	10						.						144.0	142.0	143.0					10																	52610439		2203	4300	6503	52280445	SO:0001627	intron_variant	29974	exon4			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.100-6557A>C	10.37:g.52610439T>G			52280445	NM_001198820	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Intron	SNP	ENST00000373993.1	37	CCDS7242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.02|13.02	2.111423|2.111423	0.37242|0.37242	.|.	.|.	ENSG00000148584|ENSG00000148584	ENST00000395488|ENST00000373995;ENST00000395489	.|T;T	.|0.12039	.|2.73;2.72	4.03|4.03	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.40719|0.40719	0.1128|0.1128	M|M	0.92923|0.92923	3.36|3.36	0.09310|0.09310	N|N	1|1	.|D;P	.|0.71674	.|0.998;0.513	.|D;B	.|0.65010	.|0.931;0.346	T|T	0.22034|0.22034	-1.0228|-1.0228	6|9	0.87932|0.87932	D|D	0|0	-0.9941|-0.9941	7.66|7.66	0.28398|0.28398	0.0:0.0:0.2159:0.7841|0.0:0.0:0.2159:0.7841	.|.	.|22;37	.|F8W9F8;Q9NQ94-4	.|.;.	N|P	9|37;22	.|ENSP00000363107:T37P;ENSP00000378868:T22P	ENSP00000378867:K9N|ENSP00000363107:T37P	K|T	-|-	3|1	2|0	A1CF|A1CF	52280445|52280445	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.020000|0.020000	0.10135|0.10135	0.691000|0.691000	0.25467|0.25467	0.868000|0.868000	0.35678|0.35678	0.528000|0.528000	0.53228|0.53228	AAA|ACT		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PRKG1	5592	broad.mit.edu	37	10	53227595	53227595	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:53227595G>T	ENST00000401604.2	+	3	740	c.546G>T	c.(544-546)aaG>aaT	p.K182N	PRKG1_ENST00000373985.1_Splice_Site_p.K170N|PRKG1_ENST00000373980.4_Splice_Site_p.K197N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	182	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.K197N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CGACCGTCAAGAGTAAGACTA	0.353																																					p.K197N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G591T	10						.						99.0	93.0	95.0					10																	53227595		2203	4300	6503	52897601	SO:0001630	splice_region_variant	5592	exon3				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.547+1G>T	10.37:g.53227595G>T			52897601	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583879	0.46110	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.97066	-4.23;-4.23;-3.15;-3.15	5.79	-2.5	0.06384	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.93720	3.45	0.46542	D	0.999092	P;P;P	0.40180	0.556;0.656;0.705	B;B;B	0.39660	0.247;0.216;0.306	D	0.93290	0.6667	10	0.49607	T	0.09	-6.517	11.1255	0.48315	0.7177:0.0:0.2823:0.0	.	182;197;182	B4DT93;Q13976-2;Q13976	.;.;KGP1_HUMAN	N	182;170;197;55	ENSP00000384200:K182N;ENSP00000363097:K170N;ENSP00000363092:K197N;ENSP00000363087:K55N	ENSP00000363087:K55N	K	+	3	2	PRKG1	52897601	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	1.531000	0.36018	-0.323000	0.08602	-0.253000	0.11424	AAG		0.353	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Missense_Mutation
CSTF2T	23283	broad.mit.edu	37	10	53458685	53458685	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:53458685A>G	ENST00000331173.4	-	1	670	c.625T>C	c.(625-627)Tct>Cct	p.S209P	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	209					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S209P(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		ccagAGACAGACACAGACTGA	0.527																																					p.S209P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T625C	10						.						85.0	75.0	78.0					10																	53458685		2203	4300	6503	53128691	SO:0001583	missense	23283	exon1			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.625T>C	10.37:g.53458685A>G	ENSP00000332444:p.Ser209Pro		53128691	NM_015235	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.437205	0.01098	.	.	ENSG00000177613	ENST00000331173	T	0.20332	2.08	0.893	-0.324	0.12706	.	0.567450	0.18057	N	0.153079	T	0.07413	0.0187	N	0.08118	0	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.30475	-0.9977	10	0.20519	T	0.43	-11.6809	3.0044	0.06024	0.6994:0.0:0.3006:0.0	.	209	Q9H0L4	CSTFT_HUMAN	P	209	ENSP00000332444:S209P	ENSP00000332444:S209P	S	-	1	0	CSTF2T	53128691	0.040000	0.19996	0.278000	0.24718	0.878000	0.50629	0.102000	0.15272	-0.133000	0.11537	-0.264000	0.10439	TCT		0.527	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235	
PRKG1	5592	broad.mit.edu	37	10	53893621	53893621	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:53893621C>T	ENST00000401604.2	+	8	1106	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PRKG1_ENST00000373985.1_Silent_p.N292N|PRKG1_ENST00000373975.2_Silent_p.N22N|PRKG1_ENST00000373980.4_Silent_p.N319N			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	304	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.N319N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAACAGCAAACGTAATTGCTG	0.348																																					p.N319N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C957T	10						.						169.0	168.0	168.0					10																	53893621		2203	4300	6503	53563627	SO:0001819	synonymous_variant	5592	exon8				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.912C>T	10.37:g.53893621C>T			53563627	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	CCDS44399.1																																																																																				0.348	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRKG1	5592	broad.mit.edu	37	10	54032231	54032231	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:54032231C>A	ENST00000401604.2	+	12	1542	c.1348C>A	c.(1348-1350)Ctc>Atc	p.L450I	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.L438I|PRKG1_ENST00000373975.2_Missense_Mutation_p.L168I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.L465I			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.L465I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CTGGACCATTCTCAGGGATAG	0.333																																					p.L465I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1393A	10						.						120.0	117.0	118.0					10																	54032231		2203	4300	6503	53702237	SO:0001583	missense	5592	exon12				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1348C>A	10.37:g.54032231C>A	ENSP00000384200:p.Leu450Ile		53702237	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220082	0.95139	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.67345	-0.26;-0.26;-0.26	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	N	0.12443	0.215	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.951;0.997;0.998	T	0.76512	-0.2932	10	0.87932	D	0	-13.2384	19.8265	0.96619	0.0:1.0:0.0:0.0	.	168;465;450	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	I	450;438;465;168;62	ENSP00000384200:L450I;ENSP00000363097:L438I;ENSP00000363092:L465I	ENSP00000327642:L168I	L	+	1	0	PRKG1	53702237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	2.789000	0.95967	0.591000	0.81541	CTC		0.333	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PRKG1	5592	broad.mit.edu	37	10	54048734	54048734	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:54048734A>C	ENST00000401604.2	+	16	2025	c.1831A>C	c.(1831-1833)Aaa>Caa	p.K611Q	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.K599Q|PRKG1_ENST00000373975.2_Missense_Mutation_p.K329Q|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.K626Q			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.K626Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAATGGAGTAAAAGACATTCA	0.308																																					p.K626Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1876C	10						.						101.0	112.0	108.0					10																	54048734		2200	4295	6495	53718740	SO:0001583	missense	5592	exon16				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1831A>C	10.37:g.54048734A>C	ENSP00000384200:p.Lys611Gln		53718740	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	9.272	1.045809	0.19748	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.66460	-0.21;-0.21;-0.21	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	N	0.08118	0	0.51233	D	0.999912	B;B;B	0.29341	0.008;0.203;0.242	B;B;B	0.25987	0.026;0.039;0.065	T	0.44982	-0.9292	10	0.11182	T	0.66	-19.9499	15.465	0.75394	1.0:0.0:0.0:0.0	.	329;626;611	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Q	611;599;626;329;223	ENSP00000384200:K611Q;ENSP00000363097:K599Q;ENSP00000363092:K626Q	ENSP00000327642:K329Q	K	+	1	0	PRKG1	53718740	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.572000	0.82409	2.131000	0.65755	0.524000	0.50904	AAA		0.308	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PCDH15	65217	broad.mit.edu	37	10	55568822	55568822	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55568822C>A	ENST00000395445.1	-	36	5382	c.4988G>T	c.(4987-4989)aGa>aTa	p.R1663I	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.R859I|PCDH15_ENST00000395440.1_Missense_Mutation_p.R597I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.R528I|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGCCTTCTTCTTGCAAGCAC	0.463										HNSCC(58;0.16)																											p.R1668I												.	.	0			c.G5003T	10						.						99.0	76.0	83.0					10																	55568822		1568	3582	5150	55238828	SO:0001583	missense	0	exon36			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4988G>T	10.37:g.55568822C>A	ENSP00000378832:p.Arg1663Ile		55238828	NM_001142769	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	IGR	SNP	ENST00000395445.1	37		.	.	.	.	.	.	.	.	.	.	C	11.89	1.772983	0.31411	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97186	2.04;-4.28;-4.28;-4.28	5.55	5.55	0.83447	.	.	.	.	.	D	0.93106	0.7805	N	0.14661	0.345	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.44732	0.459;0.459	D	0.93285	0.6663	9	0.87932	D	0	.	10.9677	0.47422	0.0:0.8819:0.0:0.1181	.	1661;1663	C6ZEF5;A2A3E2	.;.	I	1663;859;528;597	ENSP00000378832:R1663I;ENSP00000378833:R859I;ENSP00000378829:R528I;ENSP00000378827:R597I	ENSP00000378827:R597I	R	-	2	0	PCDH15	55238828	0.846000	0.29590	0.983000	0.44433	0.220000	0.24768	1.238000	0.32707	2.611000	0.88343	0.655000	0.94253	AGA		0.463	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55582852	55582852	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55582852C>A	ENST00000320301.6	-	33	5028	c.4634G>T	c.(4633-4635)aGa>aTa	p.R1545I	PCDH15_ENST00000361849.3_Missense_Mutation_p.R1547I|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1476I|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1505I|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1542I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1522I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1545					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1552I(2)|p.R1545I(2)|p.R1552K(1)|p.R1545K(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAATCTGTTCTCTGTGAAAT	0.393										HNSCC(58;0.16)																											p.R1505I												.	.	6	Substitution - Missense(6)	large_intestine(4)|upper_aerodigestive_tract(2)	c.G4514T	10						.						86.0	93.0	90.0					10																	55582852		2203	4297	6500	55252858	SO:0001583	missense	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4634G>T	10.37:g.55582852C>A	ENSP00000322604:p.Arg1545Ile		55252858	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317719	0.10845	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.59906	0.28;0.26;0.3;0.27;0.26;0.23	5.91	0.533	0.17121	.	.	.	.	.	T	0.60534	0.2276	M	0.65498	2.005	0.39324	D	0.965307	P;B;B;B;B;P;P;B	0.49090	0.919;0.04;0.047;0.04;0.399;0.7;0.859;0.022	P;B;B;B;B;B;P;B	0.49708	0.62;0.018;0.04;0.018;0.071;0.288;0.62;0.018	T	0.60850	-0.7181	9	0.48119	T	0.1	.	10.663	0.45712	0.0:0.5206:0.0:0.4794	.	1522;1545;1547;1552;1476;1505;1542;1545	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1505;1547;1522;1545;1542;1552;1476	ENSP00000378820:R1505I;ENSP00000354950:R1547I;ENSP00000378821:R1522I;ENSP00000322604:R1545I;ENSP00000378818:R1542I;ENSP00000412628:R1476I	ENSP00000322604:R1545I	R	-	2	0	PCDH15	55252858	0.939000	0.31865	0.008000	0.14137	0.030000	0.12068	1.257000	0.32932	-0.147000	0.11254	-0.157000	0.13467	AGA		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55583189	55583189	+	Intron	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55583189T>C	ENST00000320301.6	-	33	4762				PCDH15_ENST00000361849.3_Intron|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000463095.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGATGTTTTTATGGCTCTC	0.318										HNSCC(58;0.16)																											p.N1387S												.	.	0			c.A4160G	10						.						77.0	70.0	72.0					10																	55583189		1568	3582	5150	55253195	SO:0001627	intron_variant	65217	exon31			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4368-71A>G	10.37:g.55583189T>C			55253195	NM_001142765	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Intron	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.318	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55591101	55591101	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55591101G>T	ENST00000320301.6	-	30	4570	c.4176C>A	c.(4174-4176)atC>atA	p.I1392I	PCDH15_ENST00000361849.3_Silent_p.I1392I|PCDH15_ENST00000437009.1_Silent_p.I1321I|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.I1392I|PCDH15_ENST00000395432.2_Silent_p.I1355I|PCDH15_ENST00000395445.1_Silent_p.I1399I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.I1392I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Silent_p.I1399I|PCDH15_ENST00000414778.1_Silent_p.I1397I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.I1003I|PCDH15_ENST00000395433.1_Silent_p.I1370I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1392					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1397I(1)|p.I1392I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAACCACCAAGATGGCAGGAA	0.463										HNSCC(58;0.16)																											p.I1355I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4065A	10						.						237.0	207.0	217.0					10																	55591101		2203	4300	6503	55261107	SO:0001819	synonymous_variant	65217	exon29			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4176C>A	10.37:g.55591101G>T			55261107	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55600099	55600099	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55600099C>A	ENST00000320301.6	-	29	4358	c.3964G>T	c.(3964-3966)Gat>Tat	p.D1322Y	PCDH15_ENST00000361849.3_Missense_Mutation_p.D1322Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1251Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1322Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1285Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1329Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1322Y|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1329Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1327Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D933Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1300Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1322					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1322N(2)|p.D1327N(2)|p.D1327Y(1)|p.D1322Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATTTCTATCGATGGCTCTG	0.413										HNSCC(58;0.16)																											p.D1285Y												.	.	6	Substitution - Missense(6)	lung(4)|large_intestine(2)	c.G3853T	10						.						145.0	139.0	141.0					10																	55600099		2203	4300	6503	55270105	SO:0001583	missense	65217	exon28			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3964G>T	10.37:g.55600099C>A	ENSP00000322604:p.Asp1322Tyr		55270105	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865643	0.51588	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.59772	0.32;0.37;0.29;0.29;0.28;0.27;0.24;0.29;0.26;0.24;0.27	5.43	4.3	0.51218	.	.	.	.	.	T	0.50531	0.1621	N	0.08118	0	0.20074	N	0.999933	D;D;D;D;D;D;D;P;D;D;D;D;D	0.71674	0.989;0.986;0.986;0.986;0.998;0.986;0.989;0.795;0.975;0.975;0.975;0.96;0.986	P;P;P;P;D;P;P;P;P;P;P;P;P	0.68192	0.869;0.869;0.869;0.744;0.956;0.869;0.869;0.572;0.744;0.643;0.663;0.818;0.869	T	0.43572	-0.9383	9	0.87932	D	0	.	2.972	0.05926	0.2703:0.5523:0.0:0.1774	.	1300;1322;1322;1327;1251;1285;1322;1322;1329;1329;1322;1327;1322	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	1329;1327;1322;1322;933;1329;1285;1322;1300;1322;1322;1327;1251	ENSP00000363076:D1329Y;ENSP00000410304:D1327Y;ENSP00000378826:D1322Y;ENSP00000386693:D933Y;ENSP00000378832:D1329Y;ENSP00000378820:D1285Y;ENSP00000354950:D1322Y;ENSP00000378821:D1300Y;ENSP00000322604:D1322Y;ENSP00000378818:D1322Y;ENSP00000412628:D1251Y	ENSP00000322604:D1322Y	D	-	1	0	PCDH15	55270105	0.998000	0.40836	0.920000	0.36463	0.937000	0.57800	3.464000	0.53057	2.703000	0.92315	0.579000	0.79373	GAT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55698593	55698593	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55698593G>T	ENST00000320301.6	-	25	3749	c.3355C>A	c.(3355-3357)Ctc>Atc	p.L1119I	PCDH15_ENST00000361849.3_Missense_Mutation_p.L1119I|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1048I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L1119I|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1082I|PCDH15_ENST00000395445.1_Missense_Mutation_p.L1126I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1119I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.L1126I|PCDH15_ENST00000414778.1_Missense_Mutation_p.L1124I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.L730I|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1097I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1119	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L1124I(1)|p.L1119I(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAACTCGGAGATTGGCAAGG	0.383										HNSCC(58;0.16)																											p.L1082I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3244A	10						.						113.0	104.0	107.0					10																	55698593		2203	4300	6503	55368599	SO:0001583	missense	65217	exon24			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3355C>A	10.37:g.55698593G>T	ENSP00000322604:p.Leu1119Ile		55368599	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498164	0.64186	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.77	2.9	0.33743	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59252	0.2180	L	0.61036	1.89	0.52501	D	0.999958	D;D;D;D;D;D;D;P;D;D;D;D;D	0.69078	0.994;0.997;0.988;0.974;0.997;0.997;0.994;0.955;0.988;0.977;0.977;0.997;0.997	D;D;D;P;D;D;D;P;D;D;D;D;D	0.74348	0.981;0.968;0.933;0.879;0.983;0.983;0.981;0.826;0.926;0.926;0.926;0.968;0.977	T	0.57688	-0.7768	9	0.44086	T	0.13	.	7.2596	0.26195	0.1584:0.1531:0.6884:0.0	.	1097;1119;1119;1124;1048;1082;1119;1119;1126;1126;1119;1124;1119	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	1126;1124;1119;1119;730;1126;1082;1119;1097;1119;1119;1124;1048	ENSP00000363076:L1126I;ENSP00000410304:L1124I;ENSP00000378826:L1119I;ENSP00000386693:L730I;ENSP00000378832:L1126I;ENSP00000378820:L1082I;ENSP00000354950:L1119I;ENSP00000378821:L1097I;ENSP00000322604:L1119I;ENSP00000378818:L1119I;ENSP00000412628:L1048I	ENSP00000322604:L1119I	L	-	1	0	PCDH15	55368599	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	2.848000	0.48278	1.441000	0.47550	0.655000	0.94253	CTC		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	G	T	rs535499066		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55719536G>T	ENST00000320301.6	-	23	3472	c.3078C>A	c.(3076-3078)gtC>gtA	p.V1026V	PCDH15_ENST00000361849.3_Silent_p.V1026V|PCDH15_ENST00000437009.1_Silent_p.V955V|PCDH15_ENST00000395438.1_Silent_p.V1026V|PCDH15_ENST00000395432.2_Silent_p.V989V|PCDH15_ENST00000395445.1_Silent_p.V1033V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1026V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Silent_p.V1033V|PCDH15_ENST00000414778.1_Silent_p.V1031V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.V637V|PCDH15_ENST00000395433.1_Silent_p.V1004V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1026	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398										HNSCC(58;0.16)																											p.V989V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2967A	10						.						88.0	79.0	82.0					10																	55719536		2203	4300	6503	55389542	SO:0001819	synonymous_variant	65217	exon22			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3078C>A	10.37:g.55719536G>T			55389542	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55913042	55913042	+	Silent	SNP	G	G	A	rs201215741		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55913042G>A	ENST00000320301.6	-	14	1996	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	PCDH15_ENST00000361849.3_Silent_p.V534V|PCDH15_ENST00000437009.1_Silent_p.V534V|PCDH15_ENST00000395438.1_Silent_p.V534V|PCDH15_ENST00000395432.2_Silent_p.V497V|PCDH15_ENST00000395445.1_Silent_p.V541V|PCDH15_ENST00000395446.1_Silent_p.V534V|PCDH15_ENST00000395430.1_Silent_p.V534V|PCDH15_ENST00000373955.1_Silent_p.V534V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Silent_p.V541V|PCDH15_ENST00000414778.1_Silent_p.V539V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.V512V|PCDH15_ENST00000409834.1_Silent_p.V145V|PCDH15_ENST00000395433.1_Silent_p.V512V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V539V(1)|p.V534V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CGTCTGCGTCGACTGCAGTGA	0.443										HNSCC(58;0.16)																											p.V497V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1491T	10						.						102.0	96.0	98.0					10																	55913042		2203	4300	6503	55583048	SO:0001819	synonymous_variant	65217	exon13			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1602C>T	10.37:g.55913042G>A			55583048	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	55944895	55944895	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:55944895G>A	ENST00000320301.6	-	12	1833	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	PCDH15_ENST00000361849.3_Splice_Site_p.S480L|PCDH15_ENST00000437009.1_Splice_Site_p.S480L|PCDH15_ENST00000395438.1_Splice_Site_p.S480L|PCDH15_ENST00000395432.2_Splice_Site_p.S443L|PCDH15_ENST00000395445.1_Splice_Site_p.S487L|PCDH15_ENST00000395446.1_Splice_Site_p.S480L|PCDH15_ENST00000395430.1_Splice_Site_p.S480L|PCDH15_ENST00000373955.1_Splice_Site_p.S480L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Splice_Site_p.S487L|PCDH15_ENST00000414778.1_Splice_Site_p.S485L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Splice_Site_p.S458L|PCDH15_ENST00000409834.1_Splice_Site_p.S91L|PCDH15_ENST00000395433.1_Splice_Site_p.S458L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	480	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S485L(1)|p.S480L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCTTTACCGAAAAGGTGTA	0.383										HNSCC(58;0.16)																											p.S443L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1328T	10						.						144.0	120.0	128.0					10																	55944895		2203	4300	6503	55614901	SO:0001630	splice_region_variant	65217	exon11			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1440+1C>T	10.37:g.55944895G>A			55614901	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691913	0.48097	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.64;0.64;0.36;0.23;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.1	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48205	0.1487	L	0.51422	1.61	0.38393	D	0.945465	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29188	0.102;0.048;0.021;0.048;0.236;0.102;0.102;0.003;0.01;0.01;0.013;0.003;0.001;0.006;0.102	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20955	0.032;0.021;0.006;0.014;0.021;0.021;0.032;0.005;0.005;0.005;0.008;0.005;0.003;0.014;0.021	T	0.48422	-0.9037	9	0.30078	T	0.28	.	12.0153	0.53311	0.0879:0.0:0.9121:0.0	.	458;480;480;485;480;443;480;480;487;487;480;485;480;458;480	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	487;485;480;480;91;487;480;443;480;458;458;480;480;485;480;480	ENSP00000363076:S487L;ENSP00000410304:S485L;ENSP00000378826:S480L;ENSP00000386693:S91L;ENSP00000378832:S487L;ENSP00000378833:S480L;ENSP00000378820:S443L;ENSP00000354950:S480L;ENSP00000378821:S458L;ENSP00000363068:S458L;ENSP00000322604:S480L;ENSP00000378818:S480L;ENSP00000412628:S480L;ENSP00000363066:S480L	ENSP00000322604:S480L	S	-	2	0	PCDH15	55614901	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.228000	0.58619	1.275000	0.44379	0.586000	0.80456	TCG		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Missense_Mutation
PCDH15	65217	broad.mit.edu	37	10	56077174	56077174	+	Nonsense_Mutation	SNP	G	G	A	rs111033260	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:56077174G>A	ENST00000320301.6	-	8	1127	c.733C>T	c.(733-735)Cga>Tga	p.R245*	PCDH15_ENST00000361849.3_Nonsense_Mutation_p.R245*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.R208*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.R245*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R250*|PCDH15_ENST00000395442.1_Nonsense_Mutation_p.R245*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.R223*|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.R223*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	245	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R245*(1)|p.R250*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGTGGTTCGCCTCTCATTC	0.483										HNSCC(58;0.16)																											p.R208X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C622T	10	GRCh37	CM030933	PCDH15	M	rs111033260	.		stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	167.0	127.0	141.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	748,733,733,733,622,667,748,733,748,733,667,733	2.5	1.0	10	dbSNP_132	141	4,8596	3.7+/-12.6	0,4,4296	yes	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,,,,,,,,,,,	250/1963,245/1958,245/1887,245/1953,208/1916,223/1936,250/1791,245/1540,250/1683,245/1678,223/1933,245/1956	56077174	5,13001	2203	4300	6503	55747180	SO:0001587	stop_gained	65217	exon7			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.733C>T	10.37:g.56077174G>A	ENSP00000322604:p.Arg245*		55747180	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	37	6.189662	0.97362	2.27E-4	4.65E-4	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	4.77	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0829	0.53682	0.0:0.0:0.5788:0.4212	.	.	.	.	X	245;250;245;245;245;245;245;245;208;245;223;223;245;245;250;245;245	.	ENSP00000322604:R245X	R	-	1	2	PCDH15	55747180	0.967000	0.33354	0.987000	0.45799	0.115000	0.19883	3.304000	0.51866	1.103000	0.41568	-0.321000	0.08615	CGA		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PCDH15	65217	broad.mit.edu	37	10	56106210	56106210	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:56106210A>T	ENST00000320301.6	-	6	903	c.509T>A	c.(508-510)tTt>tAt	p.F170Y	PCDH15_ENST00000361849.3_Missense_Mutation_p.F170Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.F170Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.F170Y|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000373955.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000373965.2_Missense_Mutation_p.F170Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.F175Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.F170Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.F148Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.F148Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.F175Y(1)|p.F170Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTCCTGAAAATCCTGTGAA	0.348										HNSCC(58;0.16)																											p.F170Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T509A	10						.						150.0	152.0	151.0					10																	56106210		2203	4300	6503	55776216	SO:0001583	missense	65217	exon6			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.509T>A	10.37:g.56106210A>T	ENSP00000322604:p.Phe170Tyr		55776216	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790753	0.90367	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	0.46;0.51;0.44;0.43;0.43;0.68;0.57;0.36;0.35;0.4;0.29;0.35;0.35;0.44;0.49	5.35	5.35	0.76521	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.71913	0.3396	L	0.60455	1.87	0.43179	D	0.994998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;0.998;0.998;0.998;0.999;0.999;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.999;0.999;0.999;0.998;0.996;0.996;0.998;0.998;0.998;0.997;0.999;0.998;0.999;0.999	T	0.73490	-0.3966	9	0.49607	T	0.09	.	14.3239	0.66505	1.0:0.0:0.0:0.0	.	148;170;170;175;170;170;170;170;170;170;170;175;170;148;170	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	170;175;170;170;170;170;170;170;170;170;148;148;170;170;175;170;170	ENSP00000363076:F170Y;ENSP00000410304:F175Y;ENSP00000378826:F170Y;ENSP00000378832:F170Y;ENSP00000378833:F170Y;ENSP00000378829:F170Y;ENSP00000378827:F170Y;ENSP00000378820:F170Y;ENSP00000354950:F170Y;ENSP00000378821:F148Y;ENSP00000363068:F148Y;ENSP00000322604:F170Y;ENSP00000378818:F170Y;ENSP00000412628:F170Y;ENSP00000363066:F170Y	ENSP00000322604:F170Y	F	-	2	0	PCDH15	55776216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.526000	0.90588	2.034000	0.60081	0.528000	0.53228	TTT		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ZWINT	11130	broad.mit.edu	37	10	58119488	58119488	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:58119488C>T	ENST00000373944.3	-	4	421	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	ZWINT_ENST00000318387.2_Missense_Mutation_p.R8Q|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.R128Q|ZWINT_ENST00000361148.6_Missense_Mutation_p.R128Q			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	128	Interaction with NDC80 and ZW10.				establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.R128Q(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GAGTTGTGTCCGTTTCCTCTG	0.557																																					p.R128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	10						.						136.0	131.0	132.0					10																	58119488		2203	4300	6503	57789494	SO:0001583	missense	11130	exon4			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.383G>A	10.37:g.58119488C>T	ENSP00000363055:p.Arg128Gln		57789494	NM_007057	A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	1.345	-0.592902	0.03771	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387;ENST00000361148	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.8	-6.35	0.01975	.	1.202850	0.06140	N	0.672178	T	0.29914	0.0748	N	0.16307	0.4	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.23404	-1.0189	10	0.23891	T	0.37	-0.7288	15.0023	0.71483	0.0:0.185:0.0:0.815	.	128;128	A6NNV6;O95229	.;ZWINT_HUMAN	Q	128;128;8;128	ENSP00000363055:R128Q;ENSP00000378801:R128Q;ENSP00000322850:R8Q;ENSP00000354921:R128Q	ENSP00000322850:R8Q	R	-	2	0	ZWINT	57789494	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.564000	0.02152	-1.274000	0.02421	-1.121000	0.02013	CGG		0.557	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1		
BICC1	80114	broad.mit.edu	37	10	60546739	60546739	+	Silent	SNP	C	C	T	rs144991685	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:60546739C>T	ENST00000373886.3	+	5	448	c.444C>T	c.(442-444)atC>atT	p.I148I		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	148	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I148I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CACATGTAATCGGCAAAGGTG	0.368													C|||	3	0.000599042	0.0	0.0	5008	,	,		16926	0.0		0.0	False		,,,				2504	0.0031				p.I148I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.C444T	10						.						114.0	106.0	109.0					10																	60546739		2203	4300	6503	60216745	SO:0001819	synonymous_variant	80114	exon5			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.444C>T	10.37:g.60546739C>T			60216745	NM_001080512		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																				0.368	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
BICC1	80114	broad.mit.edu	37	10	60549593	60549593	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:60549593C>T	ENST00000373886.3	+	8	951	c.947C>T	c.(946-948)gCt>gTt	p.A316V		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	316	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.A316V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAACAGGTGCTCAGATCCAC	0.443																																					p.A316V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C947T	10						.						178.0	160.0	166.0					10																	60549593		2203	4300	6503	60219599	SO:0001583	missense	80114	exon8			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.947C>T	10.37:g.60549593C>T	ENSP00000362993:p.Ala316Val		60219599	NM_001080512		Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489896	0.96339	.	.	ENSG00000122870	ENST00000373886	T	0.30714	1.52	5.67	5.67	0.87782	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	M	0.72576	2.205	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.43940	-0.9360	10	0.16420	T	0.52	-13.2676	19.7848	0.96432	0.0:1.0:0.0:0.0	.	316	Q9H694	BICC1_HUMAN	V	316	ENSP00000362993:A316V	ENSP00000362993:A316V	A	+	2	0	BICC1	60219599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.673000	0.90976	0.655000	0.94253	GCT		0.443	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	
FAM13C	220965	broad.mit.edu	37	10	61012575	61012575	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:61012575A>C	ENST00000373868.2	-	12	1603	c.1516T>G	c.(1516-1518)Tta>Gta	p.L506V	FAM13C_ENST00000435852.2_Missense_Mutation_p.L506V|FAM13C_ENST00000373867.3_Missense_Mutation_p.L422V|FAM13C_ENST00000419214.2_Missense_Mutation_p.L408V|FAM13C_ENST00000277705.6_Missense_Mutation_p.L526V|FAM13C_ENST00000468840.2_Missense_Mutation_p.L423V|FAM13C_ENST00000442566.3_Missense_Mutation_p.L527V	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	506								p.L506V(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCTCATGTAAATTAGACATG	0.438																																					p.L423V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1267G	10						.						154.0	133.0	140.0					10																	61012575		2203	4300	6503	60682581	SO:0001583	missense	220965	exon13			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1516T>G	10.37:g.61012575A>C	ENSP00000362975:p.Leu506Val		60682581	NM_001143773	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650190	0.67472	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.58506	0.4;0.33;0.35;0.52;0.36	5.72	3.32	0.38043	.	0.106123	0.41500	D	0.000874	T	0.72095	0.3418	M	0.74258	2.255	0.34606	D	0.717029	D;D;D;D	0.76494	0.999;0.996;0.967;0.991	D;P;P;P	0.87578	0.998;0.894;0.758;0.861	T	0.79600	-0.1736	10	0.59425	D	0.04	-8.15	9.7534	0.40490	0.8559:0.0:0.1441:0.0	.	506;422;408;506	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	V	422;506;527;526;408;423;506	ENSP00000362975:L506V;ENSP00000395661:L527V;ENSP00000277705:L526V;ENSP00000391993:L408V;ENSP00000392302:L506V	ENSP00000277705:L526V	L	-	1	2	FAM13C	60682581	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.666000	0.37460	1.069000	0.40788	0.533000	0.62120	TTA		0.438	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
FAM13C	220965	broad.mit.edu	37	10	61112038	61112038	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:61112038C>T	ENST00000373868.2	-	3	403	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	FAM13C_ENST00000435852.2_Missense_Mutation_p.E106K|FAM13C_ENST00000373867.3_Missense_Mutation_p.E23K|FAM13C_ENST00000419214.2_Missense_Mutation_p.E106K|FAM13C_ENST00000277705.6_Missense_Mutation_p.E106K|FAM13C_ENST00000468840.2_Missense_Mutation_p.E23K|FAM13C_ENST00000422313.2_Missense_Mutation_p.E106K|FAM13C_ENST00000442566.3_Missense_Mutation_p.E106K	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	106								p.E106K(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCTGACTTTCTCCGTGGCTC	0.557																																					p.E23K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G67A	10						.						76.0	74.0	74.0					10																	61112038		2203	4300	6503	60782044	SO:0001583	missense	220965	exon4			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.316G>A	10.37:g.61112038C>T	ENSP00000362975:p.Glu106Lys		60782044	NM_001143773	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650696	0.67472	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000512919	T;T;T;T;T;T	0.58797	0.37;0.55;0.53;0.31;0.38;0.4	5.93	5.03	0.67393	.	0.070763	0.64402	D	0.000016	T	0.53367	0.1792	L	0.56769	1.78	0.27534	N	0.951018	P;B;P;P;P	0.38827	0.649;0.184;0.649;0.51;0.51	B;B;B;B;B	0.36666	0.23;0.133;0.23;0.181;0.154	T	0.57039	-0.7879	10	0.66056	D	0.02	.	12.2425	0.54551	0.0:0.9214:0.0:0.0786	.	106;23;106;106;106	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	K	23;106;106;106;106;23;106;106;23	ENSP00000362975:E106K;ENSP00000395661:E106K;ENSP00000277705:E106K;ENSP00000391993:E106K;ENSP00000392302:E106K;ENSP00000400241:E106K	ENSP00000277705:E106K	E	-	1	0	FAM13C	60782044	0.998000	0.40836	0.995000	0.50966	0.224000	0.24922	4.150000	0.58098	1.534000	0.49203	-0.145000	0.13849	GAA		0.557	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
SLC16A9	220963	broad.mit.edu	37	10	61414085	61414085	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:61414085A>T	ENST00000395348.3	-	5	1335	c.699T>A	c.(697-699)agT>agA	p.S233R	SLC16A9_ENST00000395347.1_Missense_Mutation_p.S233R	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	233					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S233R(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTTCCTCACTACTGTAGCTCT	0.378																																					p.S233R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T699A	10						.						247.0	235.0	239.0					10																	61414085		2203	4300	6503	61084091	SO:0001583	missense	220963	exon5			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.699T>A	10.37:g.61414085A>T	ENSP00000378757:p.Ser233Arg		61084091	NM_194298	Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	A	1.223	-0.626392	0.03610	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04406	3.63;3.63	5.02	1.24	0.21308	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.205460	0.05428	N	0.545372	T	0.02888	0.0086	N	0.14661	0.345	0.09310	N	1	B	0.27316	0.175	B	0.23716	0.048	T	0.46624	-0.9178	10	0.16420	T	0.52	.	2.9363	0.05816	0.6294:0.1497:0.0779:0.143	.	233	Q7RTY1	MOT9_HUMAN	R	233	ENSP00000378757:S233R;ENSP00000378756:S233R	ENSP00000378756:S233R	S	-	3	2	SLC16A9	61084091	0.000000	0.05858	0.000000	0.03702	0.616000	0.37450	0.445000	0.21677	-0.044000	0.13491	0.482000	0.46254	AGT		0.378	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298	
SLC16A9	220963	broad.mit.edu	37	10	61444038	61444038	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:61444038T>G	ENST00000395348.3	-	2	648	c.12A>C	c.(10-12)aaA>aaC	p.K4N	SLC16A9_ENST00000395347.1_Missense_Mutation_p.K4N|SLC16A9_ENST00000490066.1_5'UTR	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	4					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.K4N(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGGCGACTTTTTAAGTTCCA	0.443																																					p.K4N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12C	10						.						110.0	103.0	105.0					10																	61444038		2203	4300	6503	61114044	SO:0001583	missense	220963	exon2			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.12A>C	10.37:g.61444038T>G	ENSP00000378757:p.Lys4Asn		61114044	NM_194298	Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.495934	0.44352	.	.	ENSG00000165449	ENST00000395348;ENST00000395347;ENST00000490066	T;T	0.04758	3.56;3.56	5.33	-1.3	0.09259	Major facilitator superfamily domain, general substrate transporter (1);	0.624103	0.15416	N	0.263502	T	0.04003	0.0112	L	0.38838	1.175	0.23089	N	0.998315	B	0.32245	0.361	B	0.26864	0.074	T	0.34004	-0.9846	10	0.28530	T	0.3	.	12.633	0.56667	0.0:0.6006:0.0:0.3994	.	4	Q7RTY1	MOT9_HUMAN	N	4	ENSP00000378757:K4N;ENSP00000378756:K4N	ENSP00000378756:K4N	K	-	3	2	SLC16A9	61114044	0.432000	0.25554	0.224000	0.23877	0.861000	0.49209	0.258000	0.18387	-0.512000	0.06505	0.533000	0.62120	AAA		0.443	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298	
ANK3	288	broad.mit.edu	37	10	61830428	61830428	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:61830428G>T	ENST00000280772.2	-	37	10402	c.10211C>A	c.(10210-10212)tCt>tAt	p.S3404Y	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3404					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S3404Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGTGTCATGAGAAAACTCTGC	0.473																																					p.S3404Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10211A	10						.						142.0	131.0	135.0					10																	61830428		2203	4300	6503	61500434	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10211C>A	10.37:g.61830428G>T	ENSP00000280772:p.Ser3404Tyr		61500434	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741907	0.69418	.	.	ENSG00000151150	ENST00000280772	T	0.74947	-0.89	5.48	5.48	0.80851	.	0.000000	0.41823	D	0.000812	D	0.84037	0.5384	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85147	0.0984	10	0.87932	D	0	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	3404	Q12955	ANK3_HUMAN	Y	3404	ENSP00000280772:S3404Y	ENSP00000280772:S3404Y	S	-	2	0	ANK3	61500434	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	8.062000	0.89475	2.584000	0.87258	0.561000	0.74099	TCT		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	62149261	62149261	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:62149261C>A	ENST00000280772.2	-	1	227	c.36G>T	c.(34-36)agG>agT	p.R12S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	12					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R12S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTAAATCCCTGTTTTTCT	0.423																																					p.R12S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G36T	10						.						152.0	149.0	150.0					10																	62149261		2203	4300	6503	61819267	SO:0001583	missense	288	exon1			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.36G>T	10.37:g.62149261C>A	ENSP00000280772:p.Arg12Ser		61819267	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713640	0.48517	.	.	ENSG00000151150	ENST00000280772	T	0.63096	-0.02	5.96	5.96	0.96718	.	0.000000	0.36409	U	0.002609	T	0.45236	0.1332	N	0.08118	0	0.80722	D	1	P	0.39809	0.689	B	0.34590	0.186	T	0.55457	-0.8138	10	0.87932	D	0	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	12	Q12955	ANK3_HUMAN	S	12	ENSP00000280772:R12S	ENSP00000280772:R12S	R	-	3	2	ANK3	61819267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.288000	0.51739	2.832000	0.97577	0.655000	0.94253	AGG		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
CDK1	983	broad.mit.edu	37	10	62553663	62553663	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:62553663G>A	ENST00000395284.3	+	8	966	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	CDK1_ENST00000373809.2_Missense_Mutation_p.R218Q|CDK1_ENST00000448257.2_Missense_Mutation_p.R275Q|CDK1_ENST00000316629.4_Missense_Mutation_p.R218Q	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R275Q(1)		ovary(1)	1						CCAGCCAAACGAATTTCTGGC	0.289																																					p.R275Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	10						.						69.0	71.0	70.0					10																	62553663		2202	4293	6495	62223669	SO:0001583	missense	983	exon8			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.824G>A	10.37:g.62553663G>A	ENSP00000378699:p.Arg275Gln		62223669	NM_001786	A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631986	0.87660	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	6.02	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055200	0.64402	D	0.000001	D	0.89529	0.6741	H	0.98542	4.26	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.999	P;P;P	0.58210	0.575;0.835;0.835	D	0.92334	0.5876	10	0.87932	D	0	-10.2378	13.0901	0.59162	0.1293:0.0:0.8707:0.0	.	218;281;275	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	Q	275;218;275;218	ENSP00000378699:R275Q;ENSP00000325970:R218Q;ENSP00000397973:R275Q;ENSP00000362915:R218Q	ENSP00000325970:R218Q	R	+	2	0	CDK1	62223669	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.699000	0.84547	0.886000	0.36113	0.655000	0.94253	CGA		0.289	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786	
RTKN2	219790	broad.mit.edu	37	10	63964728	63964728	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:63964728G>A	ENST00000373789.3	-	10	1170	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	RTKN2_ENST00000395265.1_Silent_p.F379F|RTKN2_ENST00000315289.2_Silent_p.F160F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	358	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.F358F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGATGACAGAGAAATTATGGA	0.378																																					p.F358F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1074T	10						.						99.0	101.0	100.0					10																	63964728		2203	4300	6503	63634734	SO:0001819	synonymous_variant	219790	exon10			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1074C>T	10.37:g.63964728G>A			63634734	NM_145307	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
ZNF365	22891	broad.mit.edu	37	10	64136406	64136406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64136406G>T	ENST00000395254.3	+	2	734	c.454G>T	c.(454-456)Gac>Tac	p.D152Y	ZNF365_ENST00000395255.3_Missense_Mutation_p.D152Y|ZNF365_ENST00000410046.3_Missense_Mutation_p.D152Y|ZNF365_ENST00000466727.1_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.D152Y(2)		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)					GCCCACCTCAGACACCAAAGC	0.517																																					p.D152Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G454T	10						.						70.0	69.0	69.0					10																	64136406		2203	4300	6503	63806412	SO:0001583	missense	22891	exon2			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	ENST00000395254.3:c.454G>T	10.37:g.64136406G>T	ENSP00000378674:p.Asp152Tyr		63806412	NM_199451		Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214371	0.58452	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.39056	1.1;1.1;1.1	5.51	4.61	0.57282	.	0.342457	0.28279	N	0.015923	T	0.59542	0.2201	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.98;0.988;0.988;0.988	T	0.61652	-0.7019	10	0.66056	D	0.02	.	9.9156	0.41432	0.073:0.1384:0.7885:0.0	.	152;152;152;167	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	Y	152	ENSP00000378674:D152Y;ENSP00000378675:D152Y;ENSP00000387091:D152Y	ENSP00000378674:D152Y	D	+	1	0	ZNF365	63806412	1.000000	0.71417	0.927000	0.36925	0.877000	0.50540	4.512000	0.60469	1.331000	0.45412	0.555000	0.69702	GAC		0.517	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
ZNF365	22891	broad.mit.edu	37	10	64148203	64148203	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64148203G>A	ENST00000395254.3	+	3	1072	c.792G>A	c.(790-792)gaG>gaA	p.E264E	ZNF365_ENST00000395255.3_Silent_p.E264E|ZNF365_ENST00000410046.3_Silent_p.E264E|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.E264E(2)		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)					CTGAGAAGGAGGTTCAAGGGA	0.483																																					p.E264E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G792A	10						.						67.0	67.0	67.0					10																	64148203		2203	4300	6503	63818209	SO:0001819	synonymous_variant	22891	exon3			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	ENST00000395254.3:c.792G>A	10.37:g.64148203G>A			63818209	NM_199451		Silent	SNP	ENST00000395254.3	37	CCDS31209.1																																																																																				0.483	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
ZNF365	22891	broad.mit.edu	37	10	64159458	64159458	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64159458G>T	ENST00000395254.3	+	5	1414	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.K378N(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)					GACCTCCAAAGAAAGGGGAGC	0.522																																					p.K378N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1134T	10						.						72.0	73.0	73.0					10																	64159458		2203	4300	6503	63829464	SO:0001583	missense	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	ENST00000395254.3:c.1134G>T	10.37:g.64159458G>T	ENSP00000378674:p.Lys378Asn		63829464	NM_014951		Intron	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398894	0.62177	.	.	ENSG00000138311	ENST00000395254	T	0.54675	0.56	5.76	4.85	0.62838	.	.	.	.	.	T	0.55970	0.1954	M	0.62723	1.935	0.80722	D	1	P;P	0.44946	0.603;0.846	B;P	0.47470	0.42;0.548	T	0.60424	-0.7266	9	0.87932	D	0	.	9.8197	0.40874	0.1579:0.0:0.8421:0.0	.	378;393	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	N	378	ENSP00000378674:K378N	ENSP00000378674:K378N	K	+	3	2	ZNF365	63829464	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	1.070000	0.30653	1.441000	0.47550	0.650000	0.86243	AAG		0.522	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
ZNF365	22891	broad.mit.edu	37	10	64414616	64414616	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64414616G>A	ENST00000395251.1	+	3	386	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	18								p.E18K(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)					ctggaatacagagaggaacca	0.453																																					p.E18K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	10						.						149.0	150.0	150.0					10																	64414616		2203	4300	6503	64084622	SO:0001583	missense	22891	exon3			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.52G>A	10.37:g.64414616G>A	ENSP00000378672:p.Glu18Lys		64084622	NM_199452		Intron	SNP	ENST00000395251.1	37	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	G	3.433	-0.115640	0.06881	.	.	ENSG00000138311	ENST00000395251	T	0.54479	0.57	1.7	-1.13	0.09775	.	.	.	.	.	T	0.27663	0.0680	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17592	-1.0364	9	0.87932	D	0	.	4.6276	0.12486	0.5537:0.0:0.4463:0.0	.	18	Q70YC4	TALAN_HUMAN	K	18	ENSP00000378672:E18K	ENSP00000345300:E18K	E	+	1	0	ZNF365	64084622	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.068000	0.11561	-0.345000	0.08325	-0.379000	0.06801	GAG		0.453	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
EGR2	1959	broad.mit.edu	37	10	64573884	64573884	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64573884G>A	ENST00000242480.3	-	2	839	c.514C>T	c.(514-516)Cct>Tct	p.P172S	EGR2_ENST00000411732.1_Missense_Mutation_p.P122S|EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000439032.1_Missense_Mutation_p.P172S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	172					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P172S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAATAAGGAGGAGGAGGCGGT	0.637																																					p.P172S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	10						.						81.0	85.0	83.0					10																	64573884		2203	4300	6503	64243890	SO:0001583	missense	1959	exon2			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.514C>T	10.37:g.64573884G>A	ENSP00000242480:p.Pro172Ser		64243890	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944307	0.73672	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.68624	-0.34;-0.34;-0.34	5.14	5.14	0.70334	.	0.141445	0.48767	D	0.000171	T	0.64583	0.2611	L	0.50333	1.59	0.37347	D	0.910649	B;B	0.28713	0.22;0.149	B;B	0.31751	0.135;0.088	T	0.70421	-0.4876	10	0.87932	D	0	-11.0981	16.1402	0.81517	0.0:0.0:1.0:0.0	.	122;172	P11161-2;P11161	.;EGR2_HUMAN	S	172;172;122;185	ENSP00000242480:P172S;ENSP00000402040:P172S;ENSP00000387634:P122S	ENSP00000242480:P172S	P	-	1	0	EGR2	64243890	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	7.881000	0.87252	2.656000	0.90262	0.650000	0.86243	CCT		0.637	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
NRBF2	29982	broad.mit.edu	37	10	64893234	64893234	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:64893234G>A	ENST00000277746.6	+	1	185	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	NRBF2_ENST00000435510.2_Missense_Mutation_p.G20E	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	2					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)		p.E2K(1)		large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGGGTCTATGGAAGTAATGGA	0.647																																					p.E2K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4A	10						.						48.0	42.0	44.0					10																	64893234		2203	4300	6503	64563240	SO:0001583	missense	29982	exon1			D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.4G>A	10.37:g.64893234G>A	ENSP00000277746:p.Glu2Lys		64563240	NM_030759	A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Missense_Mutation	SNP	ENST00000277746.6	37	CCDS7268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606401|4.606401	0.87157|0.87157	.|.	.|.	ENSG00000148572|ENSG00000148572	ENST00000277746;ENST00000395241|ENST00000435510	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.221310|.	0.45606|.	D|.	0.000344|.	T|T	0.61899|0.61899	0.2384|0.2384	L|L	0.47716|0.47716	1.5|1.5	0.28343|0.28343	N|N	0.921237|0.921237	P|D	0.34562|0.89917	0.457|1.0	B|D	0.33890|0.87578	0.172|0.998	T|T	0.55566|0.55566	-0.8121|-0.8121	9|8	0.87932|0.87932	D|D	0|0	-1.6876|-1.6876	13.1767|13.1767	0.59630|0.59630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2|20	Q96F24|B4DWS0	NRBF2_HUMAN|.	K|E	2|20	.|.	ENSP00000277746:E2K|ENSP00000397502:G20E	E|G	+|+	1|2	0|0	NRBF2|NRBF2	64563240|64563240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.885000|3.885000	0.56182|0.56182	2.556000|2.556000	0.86216|0.86216	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.647	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1	NM_030759	
CTNNA3	29119	broad.mit.edu	37	10	67748510	67748510	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:67748510C>A	ENST00000433211.2	-	16	2379	c.2205G>T	c.(2203-2205)gcG>gcT	p.A735A	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Silent_p.A735A	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.A735A(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATATCATTTTCGCTGCATAGA	0.378																																					p.A735A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2205T	10						.						193.0	161.0	172.0					10																	67748510		2203	4300	6503	67418516	SO:0001819	synonymous_variant	29119	exon16			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2205G>T	10.37:g.67748510C>A			67418516	NM_013266		Silent	SNP	ENST00000433211.2	37	CCDS7269.1																																																																																				0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
LRRTM3	347731	broad.mit.edu	37	10	68687508	68687508	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:68687508G>A	ENST00000361320.4	+	2	1412	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	278					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.P278P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTGTGTCCCGAATCTGCAGC	0.473																																					p.P278P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G834A	10						.						117.0	124.0	121.0					10																	68687508		2203	4300	6503	68357514	SO:0001819	synonymous_variant	347731	exon2			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.834G>A	10.37:g.68687508G>A			68357514	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	CCDS7270.1																																																																																				0.473	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
SIRT1	23411	broad.mit.edu	37	10	69647188	69647188	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:69647188C>T	ENST00000212015.6	+	2	497	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SIRT1_ENST00000497639.1_3'UTR|SIRT1_ENST00000432464.1_5'UTR	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	148	Interaction with CCAR2.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.F148F(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ACCTTCTGTTCGGTGATGAAA	0.413																																					p.F148F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	10						.						176.0	165.0	169.0					10																	69647188		2203	4300	6503	69317194	SO:0001819	synonymous_variant	23411	exon2			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.444C>T	10.37:g.69647188C>T			69317194	NM_012238	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Silent	SNP	ENST00000212015.6	37	CCDS7273.1																																																																																				0.413	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
SIRT1	23411	broad.mit.edu	37	10	69666547	69666547	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:69666547G>T	ENST00000212015.6	+	5	996	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	SIRT1_ENST00000403579.1_Splice_Site_p.E12*|SIRT1_ENST00000432464.1_Splice_Site_p.E20*|SIRT1_ENST00000406900.1_Splice_Site_p.E12*	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	315	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E315*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTGATACAGGAAATATATCC	0.328																																					p.E20X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G58T	10						.						61.0	63.0	62.0					10																	69666547		2203	4300	6503	69336553	SO:0001630	splice_region_variant	23411	exon4			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.943-1G>T	10.37:g.69666547G>T			69336553	NM_001142498	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Nonsense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550840	0.97658	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.377	18.5847	0.91185	0.0:0.0:1.0:0.0	.	.	.	.	X	315;20;12;12	.	.	E	+	1	0	SIRT1	69336553	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.402000	0.97298	2.480000	0.83734	0.585000	0.79938	GAA		0.328	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		Nonsense_Mutation
HERC4	26091	broad.mit.edu	37	10	69695911	69695911	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:69695911G>A	ENST00000395198.3	-	23	2924	c.2677C>T	c.(2677-2679)Cgg>Tgg	p.R893W	HERC4_ENST00000277817.6_Splice_Site_p.R783W|HERC4_ENST00000373700.4_Splice_Site_p.R885W|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Splice_Site_p.R815W	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	893	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R893W(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTCACTTACCGATTTTGTTTG	0.353																																					p.R893W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2677T	10						.						174.0	160.0	164.0					10																	69695911		2203	4300	6503	69365917	SO:0001630	splice_region_variant	26091	exon23			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2678+1C>T	10.37:g.69695911G>A			69365917	NM_022079	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075631	0.76415	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.1	5.1	0.69264	HECT (4);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.998;0.999;0.999;0.999	D	0.84958	0.0875	10	0.87932	D	0	.	12.1499	0.54044	0.0:0.0:0.7117:0.2883	.	815;783;743;885;893	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	W	783;815;893;885	ENSP00000277817:R783W;ENSP00000416504:R815W;ENSP00000378624:R893W;ENSP00000362804:R885W	ENSP00000277817:R783W	R	-	1	2	HERC4	69365917	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.535000	0.53575	2.512000	0.84698	0.460000	0.39030	CGG		0.353	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601	Missense_Mutation
MYPN	84665	broad.mit.edu	37	10	69921491	69921491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:69921491C>T	ENST00000358913.5	+	8	1953	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MYPN_ENST00000354393.2_Nonsense_Mutation_p.R214*|MYPN_ENST00000540630.1_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.R489*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	489	Ig-like 2.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R489*(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTTAGAACCTCGATCCATGGC	0.308																																					p.R489X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1465T	10						.						51.0	54.0	53.0					10																	69921491		2203	4299	6502	69591497	SO:0001587	stop_gained	84665	exon8			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1465C>T	10.37:g.69921491C>T	ENSP00000351790:p.Arg489*		69591497	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	42	9.308102	0.99132	.	.	ENSG00000138347	ENST00000354393;ENST00000358913;ENST00000373675	.	.	.	5.63	4.68	0.58851	.	0.070658	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6337	0.76933	0.1372:0.8628:0.0:0.0	.	.	.	.	X	214;489;489	.	.	R	+	1	2	MYPN	69591497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.321000	0.43805	2.798000	0.96311	0.655000	0.94253	CGA		0.308	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
MYPN	84665	broad.mit.edu	37	10	69934130	69934130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:69934130G>T	ENST00000358913.5	+	11	2769	c.2281G>T	c.(2281-2283)Gaa>Taa	p.E761*	MYPN_ENST00000354393.2_Nonsense_Mutation_p.E486*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E761*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	761					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.E761*(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTGAGCAAAGAAAGCCTCTT	0.547																																					p.E761X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2281T	10						.						101.0	96.0	98.0					10																	69934130		2203	4300	6503	69604136	SO:0001587	stop_gained	84665	exon11			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2281G>T	10.37:g.69934130G>T	ENSP00000351790:p.Glu761*		69604136	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	44	11.080027	0.99513	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	.	.	.	5.76	4.85	0.62838	.	0.272209	0.42548	D	0.000688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1725	0.72884	0.0682:0.0:0.9318:0.0	.	.	.	.	X	486;486;761;761	.	.	E	+	1	0	MYPN	69604136	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.736000	0.84948	1.427000	0.47276	0.655000	0.94253	GAA		0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
DNA2	1763	broad.mit.edu	37	10	70231657	70231657	+	5'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70231657G>T	ENST00000358410.3	-	0	15				DNA2_ENST00000399180.2_Missense_Mutation_p.L75I|DNA2_ENST00000399179.2_5'UTR	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.L75I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGACAGAAAAGACAGCGGAAC	0.577																																					p.L75I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C223A	10						.						35.0	40.0	38.0					10																	70231657		1877	4107	5984	69901663	SO:0001623	5_prime_UTR_variant	1763	exon1			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.-36C>A	10.37:g.70231657G>T			69901663	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.	.	.	.	.	.	.	.	.	.	G	8.260	0.810951	0.16537	.	.	ENSG00000138346	ENST00000399180	D	0.91894	-2.93	4.19	-8.38	0.00973	.	.	.	.	.	D	0.83862	0.5346	.	.	.	0.20196	N	0.999926	.	.	.	.	.	.	T	0.72374	-0.4313	5	.	.	.	.	6.6256	0.22828	0.1296:0.1055:0.5564:0.2085	.	.	.	.	I	75	ENSP00000382133:L75I	.	L	-	1	0	DNA2	69901663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.065000	0.00302	-2.790000	0.00356	-1.076000	0.02234	CTT		0.577	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
SLC25A16	8034	broad.mit.edu	37	10	70243299	70243299	+	Nonsense_Mutation	SNP	G	G	A	rs139107749		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70243299G>A	ENST00000609923.1	-	9	987	c.889C>T	c.(889-891)Cga>Tga	p.R297*	SLC25A16_ENST00000539557.1_Nonsense_Mutation_p.R199*|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	297					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)	p.R297*(1)		endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCCTTTTCGAATTCCATGG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18292	0.0		0.001	False		,,,				2504	0.0				p.R297X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C889T	10						.						156.0	153.0	154.0					10																	70243299		2203	4300	6503	69913305	SO:0001587	stop_gained	8034	exon9			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.889C>T	10.37:g.70243299G>A	ENSP00000476815:p.Arg297*		69913305	NM_152707	Q8N2U1	Nonsense_Mutation	SNP	ENST00000609923.1	37	CCDS7280.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.577125	0.86645	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	.	.	.	5.67	4.71	0.59529	.	0.060409	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3668	13.2988	0.60313	0.0:0.0:0.7229:0.2771	.	.	.	.	X	297;199	.	ENSP00000265870:R297X	R	-	1	2	SLC25A16	69913305	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.935000	0.56560	2.682000	0.91365	0.555000	0.69702	CGA		0.378	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2		
TET1	80312	broad.mit.edu	37	10	70332931	70332931	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70332931C>A	ENST00000373644.4	+	2	1045	c.836C>A	c.(835-837)tCt>tAt	p.S279Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	279					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S279Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CGAGTAGAATCTCTTAAGTTA	0.433																																					p.S279Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C836A	10						.						70.0	75.0	73.0					10																	70332931		2203	4300	6503	70002937	SO:0001583	missense	80312	exon2			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.836C>A	10.37:g.70332931C>A	ENSP00000362748:p.Ser279Tyr		70002937	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036498	0.54896	.	.	ENSG00000138336	ENST00000373644	T	0.12361	2.69	5.53	4.62	0.57501	.	0.000000	0.43919	D	0.000511	T	0.10680	0.0261	L	0.32530	0.975	0.32209	N	0.576835	P	0.47841	0.901	B	0.40565	0.333	T	0.05903	-1.0857	10	0.87932	D	0	.	8.8351	0.35107	0.146:0.7749:0.0:0.0791	.	279	Q8NFU7	TET1_HUMAN	Y	279	ENSP00000362748:S279Y	ENSP00000362748:S279Y	S	+	2	0	TET1	70002937	0.968000	0.33430	1.000000	0.80357	0.969000	0.65631	0.838000	0.27572	2.589000	0.87451	0.563000	0.77884	TCT		0.433	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
TET1	80312	broad.mit.edu	37	10	70333384	70333384	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70333384C>A	ENST00000373644.4	+	2	1498	c.1289C>A	c.(1288-1290)cCt>cAt	p.P430H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	430					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.P430H(1)|p.P430T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCAGACTTGCCTGTCTTCCTT	0.473																																					p.P430H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1289A	10						.						138.0	124.0	129.0					10																	70333384		2203	4300	6503	70003390	SO:0001583	missense	80312	exon2			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1289C>A	10.37:g.70333384C>A	ENSP00000362748:p.Pro430His		70003390	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729546	0.30684	.	.	ENSG00000138336	ENST00000373644	T	0.08896	3.04	4.59	2.66	0.31614	.	0.964311	0.08526	N	0.932805	T	0.11623	0.0283	L	0.27053	0.805	0.09310	N	1	D	0.63046	0.992	P	0.52710	0.707	T	0.34004	-0.9846	10	0.87932	D	0	.	8.1033	0.30870	0.1803:0.6457:0.174:0.0	.	430	Q8NFU7	TET1_HUMAN	H	430	ENSP00000362748:P430H	ENSP00000362748:P430H	P	+	2	0	TET1	70003390	0.001000	0.12720	0.012000	0.15200	0.771000	0.43674	0.767000	0.26575	0.590000	0.29694	0.313000	0.20887	CCT		0.473	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
TET1	80312	broad.mit.edu	37	10	70406721	70406721	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70406721C>A	ENST00000373644.4	+	4	4444	c.4235C>A	c.(4234-4236)tCt>tAt	p.S1412Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1412					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S1412Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AACCTAGTGTCTATAACTAAA	0.378																																					p.S1412Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4235A	10						.						65.0	64.0	64.0					10																	70406721		2203	4300	6503	70076727	SO:0001583	missense	80312	exon4			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4235C>A	10.37:g.70406721C>A	ENSP00000362748:p.Ser1412Tyr		70076727	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721375	0.68959	.	.	ENSG00000138336	ENST00000373644	T	0.07327	3.2	5.22	5.22	0.72569	.	0.900349	0.09370	N	0.811381	T	0.14527	0.0351	L	0.29908	0.895	0.30264	N	0.792915	D	0.57571	0.98	P	0.50440	0.641	T	0.14783	-1.0460	10	0.72032	D	0.01	.	16.976	0.86313	0.0:1.0:0.0:0.0	.	1412	Q8NFU7	TET1_HUMAN	Y	1412	ENSP00000362748:S1412Y	ENSP00000362748:S1412Y	S	+	2	0	TET1	70076727	0.939000	0.31865	0.829000	0.32907	0.880000	0.50808	3.247000	0.51422	2.446000	0.82766	0.557000	0.71058	TCT		0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
CCAR1	55749	broad.mit.edu	37	10	70509019	70509019	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70509019G>A	ENST00000265872.6	+	9	1072	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.R303Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.R303Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	318	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.R318Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AAAGATGATCGAAGGTATATT	0.393																																					p.R318Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953A	10						.						46.0	47.0	47.0					10																	70509019		2203	4300	6503	70179025	SO:0001583	missense	55749	exon9			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.953G>A	10.37:g.70509019G>A	ENSP00000265872:p.Arg318Gln		70179025	NM_018237	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686335	0.88639	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.30182	1.6;2.68;2.68;2.68;2.68;1.54	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.50333	1.59	0.58432	D	0.999992	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.947;0.968;0.986	T	0.49790	-0.8902	10	0.59425	D	0.04	-9.1525	19.6341	0.95722	0.0:0.0:1.0:0.0	.	303;318;292	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	Q	318;303;303;303;292;123	ENSP00000265872:R318Q;ENSP00000441820:R303Q;ENSP00000445254:R303Q;ENSP00000439252:R303Q;ENSP00000438610:R292Q;ENSP00000439642:R123Q	ENSP00000265872:R318Q	R	+	2	0	CCAR1	70179025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.751000	0.91628	2.626000	0.88956	0.650000	0.86243	CGA		0.393	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237	
STOX1	219736	broad.mit.edu	37	10	70644366	70644366	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70644366C>A	ENST00000298596.6	+	3	897	c.814C>A	c.(814-816)Ctt>Att	p.L272I	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.L272I|STOX1_ENST00000421961.2_Missense_Mutation_p.L162I|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	272						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L272I(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TCACAGAGGTCTTGGGGAATC	0.498																																					p.L272I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C814A	10						.						125.0	125.0	125.0					10																	70644366		1958	4147	6105	70314372	SO:0001583	missense	219736	exon3			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.814C>A	10.37:g.70644366C>A	ENSP00000298596:p.Leu272Ile		70314372	NM_152709	A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224795	0.01530	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.74315	-0.83;-0.83;-0.5	5.57	2.5	0.30297	.	1.196050	0.06476	U	0.732075	T	0.61489	0.2351	L	0.45581	1.43	0.09310	N	1	B	0.26195	0.144	B	0.20955	0.032	T	0.47724	-0.9095	10	0.18710	T	0.47	.	1.2879	0.02054	0.1596:0.4316:0.1554:0.2534	.	272	Q6ZVD7	STOX1_HUMAN	I	272;272;162	ENSP00000382121:L272I;ENSP00000298596:L272I;ENSP00000394509:L162I	ENSP00000298596:L272I	L	+	1	0	STOX1	70314372	0.116000	0.22171	0.003000	0.11579	0.006000	0.05464	0.930000	0.28858	1.371000	0.46172	0.591000	0.81541	CTT		0.498	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709	
DDX21	9188	broad.mit.edu	37	10	70719767	70719767	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70719767A>C	ENST00000354185.4	+	2	391	c.293A>C	c.(292-294)aAa>aCa	p.K98T		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	98					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.K98T(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGAGAAAGAAAAAGGAGCCC	0.363																																					p.K98T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A293C	10						.						40.0	43.0	42.0					10																	70719767		2202	4299	6501	70389773	SO:0001583	missense	9188	exon2			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.293A>C	10.37:g.70719767A>C	ENSP00000346120:p.Lys98Thr		70389773	NM_004728	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010682	0.35511	.	.	ENSG00000165732	ENST00000354185	T	0.26810	1.71	5.76	3.5	0.40072	.	0.593582	0.17743	N	0.163499	T	0.11110	0.0271	N	0.08118	0	0.38041	D	0.935456	B	0.02656	0.0	B	0.04013	0.001	T	0.14117	-1.0484	10	0.15499	T	0.54	-12.7926	7.3447	0.26656	0.7419:0.175:0.0831:0.0	.	98	Q9NR30	DDX21_HUMAN	T	98	ENSP00000346120:K98T	ENSP00000346120:K98T	K	+	2	0	DDX21	70389773	0.962000	0.33011	1.000000	0.80357	0.835000	0.47333	0.803000	0.27083	1.197000	0.43143	0.528000	0.53228	AAA		0.363	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728	
DDX21	9188	broad.mit.edu	37	10	70738712	70738712	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70738712G>T	ENST00000354185.4	+	13	2115	c.2017G>T	c.(2017-2019)Gtt>Ttt	p.V673F		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	673					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V673F(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAAGGGAATGGTTTTTCTCAA	0.448																																					p.V673F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2017T	10						.						136.0	141.0	139.0					10																	70738712		2203	4300	6503	70408718	SO:0001583	missense	9188	exon13			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2017G>T	10.37:g.70738712G>T	ENSP00000346120:p.Val673Phe		70408718	NM_004728	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926301	0.52759	.	.	ENSG00000165732	ENST00000354185	T	0.17213	2.29	5.26	2.21	0.28008	GUCT (1);	0.713084	0.14435	N	0.319765	T	0.18341	0.0440	L	0.36672	1.1	0.41194	D	0.986324	D	0.61697	0.99	P	0.60236	0.871	T	0.42155	-0.9468	10	0.13470	T	0.59	-36.4238	1.5828	0.02638	0.1639:0.1726:0.4378:0.2257	.	673	Q9NR30	DDX21_HUMAN	F	673	ENSP00000346120:V673F	ENSP00000346120:V673F	V	+	1	0	DDX21	70408718	0.994000	0.37717	1.000000	0.80357	0.762000	0.43233	0.811000	0.27198	0.885000	0.36088	-0.119000	0.15052	GTT		0.448	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728	
VPS26A	9559	broad.mit.edu	37	10	70892660	70892660	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70892660C>A	ENST00000373382.1	+	3	663	c.10C>A	c.(10-12)Ctt>Att	p.L4I	VPS26A_ENST00000541711.1_De_novo_Start_OutOfFrame|VPS26A_ENST00000263559.6_Missense_Mutation_p.L4I|VPS26A_ENST00000395098.1_Missense_Mutation_p.L4I|VPS26A_ENST00000546041.1_De_novo_Start_InFrame|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_De_novo_Start_OutOfFrame			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	4					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)	p.L4I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TCAGAGTTTTCTTGGAGGCTT	0.308																																					p.L4I	Colon(90;545 1358 4729 6702 16773)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10A	10						.						57.0	63.0	61.0					10																	70892660		2200	4300	6500	70562666	SO:0001583	missense	9559	exon2			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.10C>A	10.37:g.70892660C>A	ENSP00000362480:p.Leu4Ile		70562666	NM_001035260	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927128	0.92389	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000395098	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	L	0.61218	1.895	0.80722	D	1	P;B	0.52842	0.956;0.019	P;B	0.62184	0.899;0.024	T	0.75175	-0.3410	9	0.46703	T	0.11	0.0264	19.5924	0.95520	0.0:1.0:0.0:0.0	.	4;4	A8MZ56;O75436	.;VP26A_HUMAN	I	4	.	ENSP00000263559:L4I	L	+	1	0	VPS26A	70562666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.689000	0.91719	0.655000	0.94253	CTT		0.308	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896	
VPS26A	9559	broad.mit.edu	37	10	70916899	70916899	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70916899C>T	ENST00000373382.1	+	5	1019	c.366C>T	c.(364-366)atC>atT	p.I122I	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Silent_p.I122I|VPS26A_ENST00000489794.1_Silent_p.I97I|VPS26A_ENST00000546041.1_Silent_p.I105I|VPS26A_ENST00000541711.1_Silent_p.I11I|VPS26A_ENST00000263559.6_Silent_p.I122I			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	122					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)	p.I122I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AATCTTACATCGGTGCCAATG	0.353																																					p.I122I	Colon(90;545 1358 4729 6702 16773)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	10						.						103.0	100.0	101.0					10																	70916899		2203	4300	6503	70586905	SO:0001819	synonymous_variant	9559	exon4			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.366C>T	10.37:g.70916899C>T			70586905	NM_001035260	A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	CCDS7286.1																																																																																				0.353	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896	
SUPV3L1	6832	broad.mit.edu	37	10	70962270	70962270	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:70962270C>T	ENST00000359655.4	+	12	1654	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	532					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L532F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTGTCCAATCTCATTGTAAG	0.408																																					p.L532F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1594T	10						.						149.0	131.0	137.0					10																	70962270		2203	4300	6503	70632276	SO:0001583	missense	6832	exon12			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1594C>T	10.37:g.70962270C>T	ENSP00000352678:p.Leu532Phe		70632276	NM_003171	A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661320	0.67700	.	.	ENSG00000156502	ENST00000359655	T	0.43294	0.95	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77534	-0.2552	10	0.72032	D	0.01	-23.274	13.5657	0.61817	0.0:0.9223:0.0:0.0777	.	532	Q8IYB8	SUV3_HUMAN	F	532	ENSP00000352678:L532F	ENSP00000352678:L532F	L	+	1	0	SUPV3L1	70632276	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	3.831000	0.55776	2.292000	0.77174	0.462000	0.41574	CTC		0.408	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171	
HKDC1	80201	broad.mit.edu	37	10	71017155	71017155	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:71017155C>T	ENST00000354624.5	+	14	2138	c.2005C>T	c.(2005-2007)Cct>Tct	p.P669S	HKDC1_ENST00000395086.2_Missense_Mutation_p.P669S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	669					carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.P669S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTATGAAGATCCTAATTGTGA	0.423																																					p.P669S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2005T	10						.						238.0	199.0	213.0					10																	71017155		2203	4300	6503	70687161	SO:0001583	missense	80201	exon14				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2005C>T	10.37:g.71017155C>T	ENSP00000346643:p.Pro669Ser		70687161	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.262499	0.59431	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97731	-4.41;-4.51	4.82	3.91	0.45181	.	0.110266	0.64402	N	0.000006	D	0.96917	0.8993	M	0.81239	2.535	0.46499	D	0.999076	B	0.09022	0.002	B	0.18263	0.021	D	0.95637	0.8695	10	0.56958	D	0.05	-1.8582	14.4955	0.67683	0.1481:0.8519:0.0:0.0	.	669	Q2TB90	HKDC1_HUMAN	S	669	ENSP00000346643:P669S;ENSP00000378521:P669S	ENSP00000346643:P669S	P	+	1	0	HKDC1	70687161	1.000000	0.71417	0.954000	0.39281	0.893000	0.52053	5.881000	0.69706	1.227000	0.43598	0.556000	0.70494	CCT		0.423	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
HKDC1	80201	broad.mit.edu	37	10	71021022	71021022	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:71021022G>A	ENST00000354624.5	+	16	2477	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	HKDC1_ENST00000395086.2_Missense_Mutation_p.E782K	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	782	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.E782K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCATCTTCGAAACCAAGTT	0.562																																					p.E782K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2344A	10						.						64.0	59.0	61.0					10																	71021022		2203	4300	6503	70691028	SO:0001583	missense	80201	exon16				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2344G>A	10.37:g.71021022G>A	ENSP00000346643:p.Glu782Lys		70691028	NM_025130	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635745	0.67130	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.98120	-4.73;-4.73	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	L	0.55213	1.73	0.80722	D	1	B	0.29936	0.262	B	0.23275	0.045	D	0.94668	0.7854	10	0.23302	T	0.38	-18.8821	17.7153	0.88335	0.0:0.0:1.0:0.0	.	782	Q2TB90	HKDC1_HUMAN	K	782	ENSP00000346643:E782K;ENSP00000378521:E782K	ENSP00000346643:E782K	E	+	1	0	HKDC1	70691028	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.742000	0.85008	2.407000	0.81776	0.491000	0.48974	GAA		0.562	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130	
H2AFY2	55506	broad.mit.edu	37	10	71835416	71835416	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:71835416T>C	ENST00000373255.4	+	2	266	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	1					brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)	p.M1T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TGAAGCAAGATGTCGGGCCGG	0.512																																					p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	10						.						183.0	156.0	165.0					10																	71835416		2203	4300	6503	71505422	SO:0001582	initiator_codon_variant	55506	exon2			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.2T>C	10.37:g.71835416T>C	ENSP00000362352:p.Met1Thr		71505422	NM_018649	Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580224	0.65992	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T	0.29397	1.57	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	.	.	.	0.46521	D	0.999082	P	0.50156	0.932	P	0.58391	0.838	T	0.56613	-0.7950	9	0.87932	D	0	.	16.2827	0.82703	0.0:0.0:0.0:1.0	.	1	Q9P0M6	H2AW_HUMAN	T	1	ENSP00000362352:M1T	ENSP00000362352:M1T	M	+	2	0	H2AFY2	71505422	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.948000	0.87774	2.324000	0.78689	0.533000	0.62120	ATG		0.512	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649	Missense_Mutation
SAR1A	56681	broad.mit.edu	37	10	71912263	71912263	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:71912263C>T	ENST00000373242.2	-	8	762	c.566G>A	c.(565-567)gGt>gAt	p.G189D	SAR1A_ENST00000373241.4_Missense_Mutation_p.G189D|SAR1A_ENST00000373238.1_Missense_Mutation_p.G189D|SAR1A_ENST00000431664.2_Missense_Mutation_p.G189D|SAR1A_ENST00000458634.2_Missense_Mutation_p.G146D	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	189					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)	p.G189D(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CCAGCGGAAACCCTCGCCGTA	0.483																																					p.G189D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	10						.						86.0	76.0	79.0					10																	71912263		2203	4300	6503	71582269	SO:0001583	missense	56681	exon7				CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.566G>A	10.37:g.71912263C>T	ENSP00000362339:p.Gly189Asp		71582269	NM_020150	B4DQ19	Missense_Mutation	SNP	ENST00000373242.2	37	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972915	0.92919	.	.	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95265	0.8464	H	0.99143	4.445	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.97201	0.9864	10	0.87932	D	0	.	18.2046	0.89851	0.0:1.0:0.0:0.0	.	189	Q9NR31	SAR1A_HUMAN	D	189;189;189;189;189;146;108	ENSP00000362338:G189D;ENSP00000362335:G189D;ENSP00000362339:G189D;ENSP00000399698:G189D;ENSP00000437979:G146D	ENSP00000362335:G189D	G	-	2	0	SAR1A	71582269	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.658000	0.90341	0.585000	0.79938	GGT		0.483	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2		
EIF4EBP2	1979	broad.mit.edu	37	10	72179801	72179801	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:72179801G>T	ENST00000373218.4	+	2	300	c.277G>T	c.(277-279)Gta>Tta	p.V93L		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	93					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)			p.V93L(1)		large_intestine(1)	1						AGACTCCAAAGTAGAAGTAAA	0.488																																					p.V93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277T	10						.						79.0	77.0	77.0					10																	72179801		2203	4300	6503	71849807	SO:0001583	missense	1979	exon2				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.277G>T	10.37:g.72179801G>T	ENSP00000362314:p.Val93Leu		71849807	NM_004096		Missense_Mutation	SNP	ENST00000373218.4	37	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822138	0.32237	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.32	3.44	0.39384	.	0.283462	0.39759	N	0.001274	T	0.40171	0.1106	L	0.29908	0.895	0.34945	D	0.750665	B	0.28820	0.224	B	0.33846	0.171	T	0.46048	-0.9219	9	0.27785	T	0.31	-2.7505	9.9724	0.41763	0.074:0.0:0.7882:0.1378	.	93	Q13542	4EBP2_HUMAN	L	93	.	ENSP00000362314:V93L	V	+	1	0	EIF4EBP2	71849807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.785000	0.55424	0.730000	0.32425	0.650000	0.86243	GTA		0.488	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096	
ADAMTS14	140766	broad.mit.edu	37	10	72495045	72495045	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:72495045G>T	ENST00000373207.1	+	9	1473	c.1473G>T	c.(1471-1473)caG>caT	p.Q491H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.Q494H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	491	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q494H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGGCTACCAGACCTGCTTGG	0.592																																					p.Q491H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1473T	10						.						52.0	52.0	52.0					10																	72495045		2203	4300	6503	72165051	SO:0001583	missense	140766	exon9			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1473G>T	10.37:g.72495045G>T	ENSP00000362303:p.Gln491His		72165051	NM_080722	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064784	0.20067	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63417	-0.04;-0.04	4.51	1.41	0.22369	.	0.263396	0.35235	N	0.003354	T	0.48502	0.1503	L	0.50333	1.59	0.29291	N	0.86938	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.002;0.002	T	0.37686	-0.9695	10	0.37606	T	0.19	.	4.7186	0.12906	0.0914:0.4201:0.3676:0.1209	.	424;491;494	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	494;491	ENSP00000362304:Q494H;ENSP00000362303:Q491H	ENSP00000362303:Q491H	Q	+	3	2	ADAMTS14	72165051	0.997000	0.39634	0.999000	0.59377	0.969000	0.65631	0.378000	0.20569	0.174000	0.19809	0.655000	0.94253	CAG		0.592	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
SGPL1	8879	broad.mit.edu	37	10	72617372	72617372	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:72617372C>T	ENST00000373202.3	+	6	611	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	137					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.D137D(1)		large_intestine(4)	4						TCTCTGCAGACGCCTTCTGGC	0.493																																					p.D137D	Colon(151;1054 2458 6676 40971)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	10						.						114.0	104.0	107.0					10																	72617372		2203	4300	6503	72287378	SO:0001630	splice_region_variant	8879	exon6			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.410-1C>T	10.37:g.72617372C>T			72287378	NM_003901	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Silent	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284062	0.23392	.	.	ENSG00000166224	ENST00000409118	.	.	.	5.86	2.07	0.26955	.	.	.	.	.	T	0.57577	0.2063	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49041	-0.8980	4	.	.	.	.	8.931	0.35670	0.0:0.2938:0.0:0.7062	.	.	.	.	M	51	.	.	T	+	2	0	SGPL1	72287378	0.732000	0.28121	0.289000	0.24876	0.726000	0.41606	0.470000	0.22084	0.135000	0.18707	-0.300000	0.09419	ACG		0.493	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	Silent
CDH23	64072	broad.mit.edu	37	10	73206112	73206112	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:73206112C>A	ENST00000224721.6	+	2	110	c.105C>A	c.(103-105)ttC>ttA	p.F35L	CDH23_ENST00000398842.3_Missense_Mutation_p.F35L|CDH23_ENST00000398809.4_Missense_Mutation_p.F35L|CDH23_ENST00000299366.7_Missense_Mutation_p.F80L|CDH23_ENST00000461841.3_Missense_Mutation_p.F80L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.F35L(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAACCACTTCTTTGATACAT	0.577																																					p.F35L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C105A	10						.						92.0	94.0	93.0					10																	73206112		2088	4195	6283	72876118	SO:0001583	missense	64072	exon3			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.105C>A	10.37:g.73206112C>A	ENSP00000224721:p.Phe35Leu		72876118	NM_052836	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	19.18	3.777316	0.70107	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	T;T	0.59772	0.24;0.24	5.27	5.27	0.74061	Cadherin-like (1);	0.000000	0.64402	D	0.000016	T	0.62600	0.2441	N	0.24115	0.695	0.80722	D	1	D;D;D	0.69078	0.995;0.995;0.997	D;D;D	0.77004	0.976;0.976;0.989	T	0.53899	-0.8373	10	0.11485	T	0.65	.	19.0885	0.93215	0.0:1.0:0.0:0.0	.	35;35;35	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	L	35	ENSP00000381789:F35L;ENSP00000381822:F35L	ENSP00000224721:F35L	F	+	3	2	CDH23	72876118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	2.758000	0.94735	0.561000	0.74099	TTC		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73326600	73326600	+	Missense_Mutation	SNP	C	C	A	rs371933124		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:73326600C>A	ENST00000224721.6	+	6	551	c.546C>A	c.(544-546)ttC>ttA	p.F182L	CDH23_ENST00000398842.3_Missense_Mutation_p.F177L|CDH23_ENST00000398809.4_Missense_Mutation_p.F177L|CDH23_ENST00000299366.7_Missense_Mutation_p.F222L|CDH23_ENST00000461841.3_Missense_Mutation_p.F222L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.F177L(2)|p.F182L(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTCCCAATTCTTCGCCATTG	0.617																																					p.F177L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C531A	10						.						48.0	51.0	50.0					10																	73326600		2031	4183	6214	72996606	SO:0001583	missense	64072	exon7			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.546C>A	10.37:g.73326600C>A	ENSP00000224721:p.Phe182Leu		72996606	NM_052836	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	13.13	2.144130	0.37825	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01665	4.7;4.7	5.43	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.02156	0.0067	N	0.04090	-0.28	0.80722	D	1	B;D;B;D	0.69078	0.419;0.997;0.029;0.997	B;D;B;D	0.78314	0.168;0.91;0.01;0.991	T	0.68735	-0.5330	10	0.11485	T	0.65	.	7.956	0.30042	0.1397:0.716:0.0:0.1443	.	177;177;177;177	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	L	182;177;177;177;177;182;182;118	ENSP00000381789:F177L;ENSP00000381822:F177L	ENSP00000224721:F182L	F	+	3	2	CDH23	72996606	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	1.909000	0.39917	1.277000	0.44412	0.561000	0.74099	TTC		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73558958	73558958	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:73558958G>A	ENST00000224721.6	+	50	7165	c.7160G>A	c.(7159-7161)cGg>cAg	p.R2387Q	CDH23_ENST00000398788.3_Missense_Mutation_p.R142Q|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2382	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R2387Q(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCCCGCCCCGGGCAGCTGAG	0.592																																					p.R142Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	10						.						65.0	76.0	72.0					10																	73558958		2015	4149	6164	73228964	SO:0001583	missense	64072	exon4			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7160G>A	10.37:g.73558958G>A	ENSP00000224721:p.Arg2387Gln		73228964	NM_001171933	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.195406	0.78902	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01725	4.67	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.79108	0.992;0.854	T	0.53592	-0.8417	10	0.25751	T	0.34	.	13.7674	0.63004	0.0734:0.0:0.9266:0.0	.	2382;2382	E9PEX1;Q9H251	.;CAD23_HUMAN	Q	2387;2382;2385;142	ENSP00000381768:R142Q	ENSP00000224721:R2387Q	R	+	2	0	CDH23	73228964	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	5.654000	0.67974	2.623000	0.88846	0.655000	0.94253	CGG		0.592	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
PSAP	5660	broad.mit.edu	37	10	73587796	73587796	+	Missense_Mutation	SNP	C	C	T	rs147265566	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:73587796C>T	ENST00000394936.3	-	6	842	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PSAP_ENST00000394934.1_Missense_Mutation_p.R232H			P07602	SAP_HUMAN	prosaposin	232	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)	p.R232H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGGGCCCAGGCGGTCACACTC	0.582													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17455	0.0		0.0	False		,,,				2504	0.0				p.R232H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	10						.						127.0	92.0	104.0					10																	73587796		2203	4300	6503	73257802	SO:0001583	missense	5660	exon6			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.695G>A	10.37:g.73587796C>T	ENSP00000378394:p.Arg232His		73257802	NM_001042465	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	c	11.99	1.802394	0.31869	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.84730	-1.89;-1.89	5.6	1.39	0.22231	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	0.376195	0.30036	N	0.010571	T	0.75627	0.3875	L	0.44542	1.39	0.38709	D	0.953172	B	0.22800	0.075	B	0.21546	0.035	T	0.65573	-0.6135	10	0.15499	T	0.54	0.0183	9.1903	0.37195	0.4943:0.4368:0.0:0.0689	.	232	P07602	SAP_HUMAN	H	232;232;232;232;235;157	ENSP00000378394:R232H;ENSP00000378392:R232H	ENSP00000350063:R232H	R	-	2	0	PSAP	73257802	0.990000	0.36364	0.987000	0.45799	0.994000	0.84299	0.305000	0.19254	0.780000	0.33566	0.542000	0.68232	CGC		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778	
DNAJB12	54788	broad.mit.edu	37	10	74100765	74100765	+	Missense_Mutation	SNP	G	G	T	rs536864860	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:74100765G>T	ENST00000444643.2	-	4	953	c.621C>A	c.(619-621)ttC>ttA	p.F207L	DNAJB12_ENST00000461919.1_Missense_Mutation_p.F2L|DNAJB12_ENST00000394903.2_Missense_Mutation_p.F241L|DNAJB12_ENST00000338820.3_Missense_Mutation_p.F241L			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	207						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F207L(1)		endometrium(1)|large_intestine(2)|skin(1)	4						CGCCGCCAAAGAACATGTTGA	0.612																																					p.F241L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C723A	10						.						50.0	48.0	49.0					10																	74100765		2203	4300	6503	73770771	SO:0001583	missense	54788	exon4			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.621C>A	10.37:g.74100765G>T	ENSP00000403313:p.Phe207Leu		73770771	NM_001002762	B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37		.	.	.	.	.	.	.	.	.	.	G	24.1	4.496217	0.85069	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.72835	-0.69;-0.69;-0.69	5.66	1.44	0.22558	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	M	0.90977	3.165	0.58432	D	0.99999	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	D	0.83885	0.0281	10	0.87932	D	0	-8.4491	9.6905	0.40125	0.3628:0.0:0.6372:0.0	.	207;207	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	L	241;241;207	ENSP00000345575:F241L;ENSP00000378363:F241L;ENSP00000403313:F207L	ENSP00000345575:F241L	F	-	3	2	DNAJB12	73770771	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.723000	0.38053	0.014000	0.14944	0.650000	0.86243	TTC		0.612	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2		
MCU	90550	broad.mit.edu	37	10	74631334	74631334	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:74631334G>A	ENST00000373053.3	+	6	878	c.857G>A	c.(856-858)cGc>cAc	p.R286H	MCU_ENST00000357157.6_Missense_Mutation_p.R265H|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000536019.1_Missense_Mutation_p.R237H	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	286					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.R286H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GTAATGACACGCCAGGTAAGA	0.358																																					p.R286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G857A	10						.						82.0	79.0	80.0					10																	74631334		2203	4300	6503	74301340	SO:0001583	missense	90550	exon6			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.857G>A	10.37:g.74631334G>A	ENSP00000362144:p.Arg286His		74301340	NM_138357	B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447812	0.96205	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.32753	1.44;1.44;1.44	5.92	5.92	0.95590	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	M	0.68593	2.085	0.80722	D	1	D;D;D	0.67145	0.994;0.989;0.996	P;P;P	0.61070	0.814;0.746;0.883	T	0.53606	-0.8415	10	0.87932	D	0	-9.9603	20.327	0.98704	0.0:0.0:1.0:0.0	.	265;237;286	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	H	286;265;237	ENSP00000362144:R286H;ENSP00000349680:R265H;ENSP00000440913:R237H	ENSP00000349680:R265H	R	+	2	0	MCU	74301340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.794000	0.96219	0.650000	0.86243	CGC		0.358	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357	
OIT3	170392	broad.mit.edu	37	10	74658796	74658796	+	Splice_Site	SNP	C	C	T	rs535158135		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:74658796C>T	ENST00000334011.5	+	2	654	c.436C>T	c.(436-438)Cat>Tat	p.H146Y		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	146						nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H146Y(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)					CTACTGTGGTCGTGAGTACCT	0.512																																					p.H146Y	Colon(7;19 345 13446 17537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C436T	10						.						80.0	63.0	68.0					10																	74658796		2200	4297	6497	74328802	SO:0001630	splice_region_variant	170392	exon2				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.436+1C>T	10.37:g.74658796C>T			74328802	NM_152635	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378866	0.82682	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	T	0.49720	0.77	5.48	4.57	0.56435	.	0.000000	0.64402	D	0.000015	T	0.60766	0.2294	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.56866	-0.7908	10	0.26408	T	0.33	-9.6658	14.3602	0.66766	0.0:0.929:0.0:0.071	.	146	Q8WWZ8	OIT3_HUMAN	Y	146	ENSP00000333900:H146Y	ENSP00000333900:H146Y	H	+	1	0	OIT3	74328802	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.003000	0.70701	1.315000	0.45114	0.655000	0.94253	CAT		0.512	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	Missense_Mutation
OIT3	170392	broad.mit.edu	37	10	74684104	74684104	+	Missense_Mutation	SNP	G	G	A	rs367570425		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:74684104G>A	ENST00000334011.5	+	7	1287	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	357	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E357K(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)					GGTGACCTGCGAGTTTCCACG	0.557																																					p.E357K	Colon(7;19 345 13446 17537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	10						.	G	LYS/GLU	0,4406		0,0,2203	74.0	72.0	73.0		1069	4.8	1.0	10		73	1,8599	2.2+/-6.3	0,1,4299	no	missense	OIT3	NM_152635.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	357/546	74684104	1,13005	2203	4300	6503	74354110	SO:0001583	missense	170392	exon7				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1069G>A	10.37:g.74684104G>A	ENSP00000333900:p.Glu357Lys		74354110	NM_152635	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705705	0.89018	0.0	1.16E-4	ENSG00000138315	ENST00000334011	D	0.81996	-1.56	5.72	4.79	0.61399	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000018	D	0.87354	0.6156	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.83881	0.0279	10	0.08381	T	0.77	-26.7667	15.8633	0.79043	0.0:0.0:0.8633:0.1367	.	357	Q8WWZ8	OIT3_HUMAN	K	357	ENSP00000333900:E357K	ENSP00000333900:E357K	E	+	1	0	OIT3	74354110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	1.372000	0.46190	0.655000	0.94253	GAG		0.557	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
DNAJC9	23234	broad.mit.edu	37	10	75003266	75003266	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75003266C>A	ENST00000372950.4	-	5	2347	c.675G>T	c.(673-675)aaG>aaT	p.K225N	DNAJC9_ENST00000453189.2_5'Flank|FAM149B1_ENST00000242505.6_3'UTR	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	225					social behavior (GO:0035176)	nucleus (GO:0005634)		p.K225N(1)		endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TTTGCCGATCCTTTTGTCTGC	0.408																																					p.K225N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G675T	10						.						108.0	105.0	106.0					10																	75003266		2203	4299	6502	74673272	SO:0001583	missense	23234	exon5			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.675G>T	10.37:g.75003266C>A	ENSP00000362041:p.Lys225Asn		74673272	NM_015190	B2RMW6	Missense_Mutation	SNP	ENST00000372950.4	37	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467188	0.43839	.	.	ENSG00000213551	ENST00000372950	T	0.19394	2.15	5.88	4.92	0.64577	.	0.139965	0.64402	D	0.000004	T	0.14960	0.0361	L	0.33624	1.015	0.50467	D	0.999877	B	0.16396	0.017	B	0.15052	0.012	T	0.06023	-1.0850	10	0.27785	T	0.31	.	9.1397	0.36897	0.1635:0.6788:0.1577:0.0	.	225	Q8WXX5	DNJC9_HUMAN	N	225	ENSP00000362041:K225N	ENSP00000362041:K225N	K	-	3	2	DNAJC9	74673272	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.387000	0.20718	2.790000	0.95986	0.591000	0.81541	AAG		0.408	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190	
CFAP70	118491	broad.mit.edu	37	10	75037110	75037110	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75037110T>G	ENST00000310715.3	-	22	2738	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	RNU6-833P_ENST00000363486.1_RNA|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.K342T|TTC18_ENST00000401621.2_Missense_Mutation_p.K873T|TTC18_ENST00000394865.1_Missense_Mutation_p.K873T|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		873						extracellular vesicular exosome (GO:0070062)		p.K873T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATCTTGACATTTTGATGCTTC	0.398																																					p.K873T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2618C	10						.						92.0	92.0	92.0					10																	75037110		2203	4300	6503	74707116	SO:0001583	missense	118491	exon22																														ENST00000310715.3:c.2618A>C	10.37:g.75037110T>G	ENSP00000310829:p.Lys873Thr		74707116	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965489	0.53507	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.33865	1.85;1.85;1.39;1.44	5.62	4.5	0.54988	.	0.286983	0.33854	N	0.004499	T	0.45915	0.1366	M	0.62723	1.935	0.35373	D	0.789208	D	0.59357	0.985	P	0.55871	0.786	T	0.58457	-0.7633	10	0.49607	T	0.09	-13.6376	7.5121	0.27579	0.0:0.0936:0.0:0.9064	.	873	Q5T0N1	TTC18_HUMAN	T	873;873;873;280;873	ENSP00000310829:K873T;ENSP00000384479:K873T;ENSP00000409527:K280T;ENSP00000378334:K873T	ENSP00000310829:K873T	K	-	2	0	TTC18	74707116	0.998000	0.40836	1.000000	0.80357	0.623000	0.37688	1.595000	0.36708	2.136000	0.66102	0.533000	0.62120	AAA		0.398	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
CFAP70	118491	broad.mit.edu	37	10	75082771	75082771	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75082771G>A	ENST00000310715.3	-	10	1192	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R358W|TTC18_ENST00000394865.1_Missense_Mutation_p.R358W|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		358						extracellular vesicular exosome (GO:0070062)		p.R358W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAAGCTCCCCGAATTCTCTTC	0.358																																					p.R358W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072T	10						.						117.0	112.0	113.0					10																	75082771		2203	4300	6503	74752777	SO:0001583	missense	118491	exon10																														ENST00000310715.3:c.1072C>T	10.37:g.75082771G>A	ENSP00000310829:p.Arg358Trp		74752777	NM_145170	C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007189	0.75046	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	T;T;T	0.37584	1.6;1.6;1.19	5.81	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.58032	0.2094	M	0.71581	2.175	0.45791	D	0.998672	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.63651	-0.6589	10	0.87932	D	0	-22.0931	13.491	0.61395	0.0:0.0:0.719:0.281	.	358;358	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	W	358	ENSP00000310829:R358W;ENSP00000384479:R358W;ENSP00000378334:R358W	ENSP00000310829:R358W	R	-	1	2	TTC18	74752777	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	1.181000	0.32017	1.425000	0.47237	0.655000	0.94253	CGG		0.358	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
MSS51	118490	broad.mit.edu	37	10	75184448	75184448	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75184448A>G	ENST00000372912.1	-	6	1248	c.1246T>C	c.(1246-1248)Tcc>Ccc	p.S416P	MSS51_ENST00000299432.2_Missense_Mutation_p.S416P			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	416					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.S416P(1)									GGTTTGAGGGACATGAAAGGA	0.458																																					p.S416P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1246C	10						.						137.0	127.0	130.0					10																	75184448		2203	4300	6503	74854454	SO:0001583	missense	118490	exon7			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1246T>C	10.37:g.75184448A>G	ENSP00000362003:p.Ser416Pro		74854454	NM_001024593	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910104	0.72983	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.68765	-0.35;-0.35	5.62	4.49	0.54785	.	0.180261	0.49916	D	0.000122	T	0.77618	0.4157	M	0.66939	2.045	0.39855	D	0.973297	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	T	0.79366	-0.1833	10	0.87932	D	0	-3.6614	9.6512	0.39899	0.9173:0.0:0.0826:0.0	.	195;416	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	P	416	ENSP00000299432:S416P;ENSP00000362003:S416P	ENSP00000299432:S416P	S	-	1	0	ZMYND17	74854454	1.000000	0.71417	0.499000	0.27577	0.982000	0.71751	6.391000	0.73208	0.970000	0.38263	0.455000	0.32223	TCC		0.458	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451	
PPP3CB	5532	broad.mit.edu	37	10	75206289	75206289	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75206289C>T	ENST00000360663.5	-	11	1340	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	PPP3CB_ENST00000394828.2_Missense_Mutation_p.R411Q|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R411Q|PPP3CB_ENST00000342558.3_Missense_Mutation_p.R410Q|PPP3CB_ENST00000394822.2_Missense_Mutation_p.R428Q|PPP3CB_ENST00000545874.1_Missense_Mutation_p.R325Q|PPP3CB_ENST00000544628.1_Missense_Mutation_p.R38Q			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	410	Calmodulin-binding. {ECO:0000255}.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.R82Q(1)|p.R410Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GCCAATTGCTCGAATTTTGTT	0.363																																					p.R411Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1232A	10						.						191.0	174.0	180.0					10																	75206289		2203	4300	6503	74876295	SO:0001583	missense	5532	exon11			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1229G>A	10.37:g.75206289C>T	ENSP00000353881:p.Arg410Gln		74876295	NM_001142353	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104709	0.94245	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44;3.44	5.12	5.12	0.69794	.	0.149195	0.34802	N	0.003675	T	0.20373	0.0490	L	0.49455	1.56	0.80722	D	1	D;D;P;D;P	0.89917	1.0;0.98;0.882;0.999;0.905	D;P;B;D;P	0.91635	0.999;0.759;0.325;0.99;0.484	T	0.01416	-1.1360	10	0.27785	T	0.31	.	18.5681	0.91124	0.0:1.0:0.0:0.0	.	428;325;410;411;410	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	Q	410;411;411;82;38;72;410;325;428	ENSP00000353881:R410Q;ENSP00000378306:R411Q;ENSP00000378305:R411Q;ENSP00000437596:R38Q;ENSP00000343147:R410Q;ENSP00000439876:R325Q;ENSP00000378299:R428Q	ENSP00000343147:R410Q	R	-	2	0	PPP3CB	74876295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.375000	0.81037	0.585000	0.79938	CGA		0.363	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
USP54	159195	broad.mit.edu	37	10	75277235	75277235	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75277235C>A	ENST00000339859.4	-	19	3049	c.2949G>T	c.(2947-2949)aaG>aaT	p.K983N	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.K71N|USP54_ENST00000428547.1_Missense_Mutation_p.K833N|USP54_ENST00000408019.1_Missense_Mutation_p.K983N|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.K165N			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	983					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.K983N(1)|p.K71N(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GATGAGAATTCTTCTCAGTCC	0.502																																					p.K983N	Colon(195;880 2046 8854 25025 38456)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2949T	10						.						102.0	96.0	98.0					10																	75277235		2203	4300	6503	74947241	SO:0001583	missense	159195	exon18			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2949G>T	10.37:g.75277235C>A	ENSP00000345216:p.Lys983Asn		74947241	NM_152586	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730145	0.48939	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.23348	1.92;1.92;1.92;1.91;1.92	5.67	3.78	0.43462	.	.	.	.	.	T	0.13030	0.0316	N	0.14661	0.345	0.80722	D	1	B;B	0.19583	0.037;0.002	B;B	0.19148	0.024;0.004	T	0.10177	-1.0641	9	0.23891	T	0.37	-0.3139	6.61	0.22747	0.1606:0.6586:0.1086:0.0722	.	165;983	E7EW90;Q70EL1	.;UBP54_HUMAN	N	983;983;833;71;165	ENSP00000345216:K983N;ENSP00000386080:K983N;ENSP00000408714:K833N;ENSP00000378290:K71N;ENSP00000407368:K165N	ENSP00000345216:K983N	K	-	3	2	USP54	74947241	0.708000	0.27876	0.974000	0.42286	0.992000	0.81027	-0.029000	0.12329	1.380000	0.46344	0.561000	0.74099	AAG		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
USP54	159195	broad.mit.edu	37	10	75289664	75289664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75289664C>A	ENST00000339859.4	-	14	1934	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Nonsense_Mutation_p.E462*|USP54_ENST00000408019.1_Nonsense_Mutation_p.E612*|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Nonsense_Mutation_p.E612*|RNU6-883P_ENST00000384597.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	612					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.E612*(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGTATAAATTCTTTAGCTATC	0.458											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E612X	Colon(195;880 2046 8854 25025 38456)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1834T	10						.						38.0	40.0	39.0					10																	75289664		1879	4122	6001	74959670	SO:0001587	stop_gained	159195	exon13			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1834G>T	10.37:g.75289664C>A	ENSP00000345216:p.Glu612*	1159	74959670	NM_152586	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonsense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	36	5.620579	0.96660	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	.	.	.	5.66	5.66	0.87406	.	0.075067	0.52532	U	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-9.3048	18.3055	0.90179	0.0:1.0:0.0:0.0	.	.	.	.	X	612;612;462;612	.	ENSP00000326547:E612X	E	-	1	0	USP54	74959670	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.699000	0.61796	2.832000	0.97577	0.655000	0.94253	GAA		0.458	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586	
SEC24C	9632	broad.mit.edu	37	10	75529199	75529199	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75529199G>A	ENST00000339365.2	+	19	2681	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	SEC24C_ENST00000411652.2_Missense_Mutation_p.R721Q|SEC24C_ENST00000540668.1_Missense_Mutation_p.R88Q|SEC24C_ENST00000535742.1_Missense_Mutation_p.R88Q|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.R840Q|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	840					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.R840Q(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GATCTATATCGAAACTGTGAG	0.572																																					p.R840Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2519A	10						.						59.0	53.0	55.0					10																	75529199		2203	4300	6503	75199205	SO:0001583	missense	9632	exon18			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2519G>A	10.37:g.75529199G>A	ENSP00000343405:p.Arg840Gln		75199205	NM_198597	B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753938	0.96890	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60012	0.867;0.867	T	0.47661	-0.9100	10	0.49607	T	0.09	-7.8026	19.5319	0.95232	0.0:0.0:1.0:0.0	.	721;840	E7EP00;P53992	.;SC24C_HUMAN	Q	88;840;88;840;721	ENSP00000446174:R88Q;ENSP00000321845:R840Q;ENSP00000445023:R88Q;ENSP00000343405:R840Q;ENSP00000402913:R721Q	ENSP00000343405:R840Q	R	+	2	0	SEC24C	75199205	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.948000	0.87774	2.628000	0.89032	0.313000	0.20887	CGA		0.572	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		
FUT11	170384	broad.mit.edu	37	10	75533257	75533257	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75533257C>A	ENST00000372841.3	+	2	1061	c.1018C>A	c.(1018-1020)Ctg>Atg	p.L340M	FUT11_ENST00000465695.1_3'UTR|RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Missense_Mutation_p.L340M	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	340					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.L340M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TATTGACTTTCTGGACAAGAA	0.473																																					p.L340M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1018A	10						.						86.0	83.0	84.0					10																	75533257		2203	4300	6503	75203263	SO:0001583	missense	170384	exon2			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1018C>A	10.37:g.75533257C>A	ENSP00000361932:p.Leu340Met		75203263	NM_173540	Q495W7|Q8IYE4	Missense_Mutation	SNP	ENST00000372841.3	37	CCDS7333.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696223	0.68386	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.53857	0.6;0.6	5.68	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.82517	2.595	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68934	-0.5278	10	0.87932	D	0	-16.4848	8.7438	0.34573	0.0:0.6499:0.0:0.3501	.	340;340	Q495W5;Q495W5-2	FUT11_HUMAN;.	M	340	ENSP00000361932:L340M;ENSP00000378270:L340M	ENSP00000361932:L340M	L	+	1	2	FUT11	75203263	0.997000	0.39634	0.955000	0.39395	0.964000	0.63967	1.591000	0.36665	0.083000	0.17047	0.563000	0.77884	CTG		0.473	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540	
ZSWIM8	23053	broad.mit.edu	37	10	75550024	75550024	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75550024C>A	ENST00000605216.1	+	7	1132	c.915C>A	c.(913-915)ttC>ttA	p.F305L	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.F305L|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.F305L|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.F305L|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.F305L	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	305							zinc ion binding (GO:0008270)	p.F305L(2)									TGCACAAGTTCTGTGGCCCCT	0.542																																					p.F305L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C915A	10						.						160.0	161.0	160.0					10																	75550024		2008	4182	6190	75220030	SO:0001583	missense	23053	exon7			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.915C>A	10.37:g.75550024C>A	ENSP00000474748:p.Phe305Leu		75220030	NM_015037	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	15.07|15.07|15.07	2.725500|2.725500|2.725500	0.48833|0.48833|0.48833	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366|ENST00000451629	T|.|.	0.61742|.|.	0.08|.|.	5.34|5.34|5.34	5.34|5.34|5.34	0.76211|0.76211|0.76211	.|.|.	0.876351|.|.	0.09296|.|.	U|.|.	0.821670|.|.	T|T|T	0.55257|0.55257|0.55257	0.1909|0.1909|0.1909	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.51012|0.51012|0.51012	D|D|D	0.999902|0.999902|0.999902	D;D;D|.|.	0.56035|.|.	0.974;0.974;0.974|.|.	D;D;D|.|.	0.67725|.|.	0.953;0.953;0.953|.|.	T|T|T	0.50030|0.50030|0.50030	-0.8875|-0.8875|-0.8875	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-6.5505|-6.5505|-6.5505	9.7673|9.7673|9.7673	0.40567|0.40567|0.40567	0.0:0.8491:0.0:0.1509|0.0:0.8491:0.0:0.1509|0.0:0.8491:0.0:0.1509	.|.|.	305;305;305|.|.	A7E2V4;A7E2V4-5;A7E2V4-4|.|.	K0913_HUMAN;.;.|.|.	L|M|Y	305|28|108	ENSP00000381693:F305L|.|.	ENSP00000381693:F305L|.|.	F|L|S	+|+|+	3|1|2	2|2|0	KIAA0913|KIAA0913|KIAA0913	75220030|75220030|75220030	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.911000|2.911000|2.911000	0.48774|0.48774|0.48774	2.780000|2.780000|2.780000	0.95670|0.95670|0.95670	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT		0.542	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
C10orf55	414236	broad.mit.edu	37	10	75673383	75673383	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75673383G>T	ENST00000409178.1	-	3	268				PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Nonsense_Mutation_p.E183*|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Nonsense_Mutation_p.E166*|PLAU_ENST00000372762.4_Nonsense_Mutation_p.E147*	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.E183*(1)		endometrium(1)	1	Prostate(51;0.0112)					TATTGGGGGAGAATTCACCAC	0.542																																					p.E183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G547T	10						.						112.0	133.0	126.0					10																	75673383		2203	4300	6503	75343389	SO:0001627	intron_variant	5328	exon7				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-550C>A	10.37:g.75673383G>T			75343389	NM_002658	Q3KRG4|Q8NAK4	Nonsense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748048	0.69533	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	.	.	.	5.25	1.13	0.20643	.	0.796636	0.12823	N	0.436247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	2.5138	0.04663	0.1739:0.1496:0.5227:0.1538	.	.	.	.	X	166;183;147;147	.	ENSP00000361847:E147X	E	+	1	0	PLAU	75343389	0.175000	0.23083	0.102000	0.21198	0.679000	0.39708	0.641000	0.24720	0.268000	0.21939	0.650000	0.86243	GAA		0.542	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791	
VCL	7414	broad.mit.edu	37	10	75877872	75877872	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:75877872G>A	ENST00000211998.4	+	22	3444	c.3350G>A	c.(3349-3351)cGa>cAa	p.R1117Q	RP11-178G16.4_ENST00000598318.1_lincRNA|VCL_ENST00000417648.2_Missense_Mutation_p.R310Q|RP11-178G16.5_ENST00000599110.1_lincRNA|VCL_ENST00000372755.3_Missense_Mutation_p.R1049Q	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1117	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.R1117Q(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATCAAAATTCGAACAGATGCT	0.512																																					p.R1117Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3350A	10						.						118.0	104.0	109.0					10																	75877872		2203	4300	6503	75547878	SO:0001583	missense	7414	exon22			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3350G>A	10.37:g.75877872G>A	ENSP00000211998:p.Arg1117Gln		75547878	NM_014000	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.685998|5.685998	0.96784|0.96784	.|.	.|.	ENSG00000035403|ENSG00000035403	ENST00000537043|ENST00000372755;ENST00000211998;ENST00000417648;ENST00000436396	.|T;T;T;T	.|0.47869	.|0.83;0.83;0.83;0.83	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.146314	.|0.45867	.|D	.|0.000334	T|T	0.57607|0.57607	0.2065|0.2065	L|L	0.31804|0.31804	0.96|0.96	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.986;0.996	.|D;P;D	.|0.69479	.|0.964;0.727;0.926	T|T	0.52518|0.52518	-0.8565|-0.8565	6|10	0.59425|0.30854	D|T	0.04|0.27	.|.	19.4027|19.4027	0.94637|0.94637	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|310;1049;1117	.|B4DTM7;P18206-2;P18206	.|.;.;VINC_HUMAN	K|Q	976|1049;1117;310;789	.|ENSP00000361841:R1049Q;ENSP00000211998:R1117Q;ENSP00000411887:R310Q;ENSP00000415489:R789Q	ENSP00000442299:E976K|ENSP00000211998:R1117Q	E|R	+|+	1|2	0|0	VCL|VCL	75547878|75547878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.512	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000	
ADK	132	broad.mit.edu	37	10	76074455	76074455	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:76074455C>T	ENST00000286621.2	+	4	275	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ADK_ENST00000541550.1_Silent_p.V40V|ADK_ENST00000372734.3_Silent_p.V58V|ADK_ENST00000539909.1_Silent_p.V75V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	75					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)	p.V75V(1)		breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AATTCAAAGTCGAATATCATG	0.328																																					p.V58V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	10						.						54.0	55.0	55.0					10																	76074455		2203	4298	6501	75744461	SO:0001819	synonymous_variant	132	exon4			U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.225C>T	10.37:g.76074455C>T			75744461	NM_001123	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Silent	SNP	ENST00000286621.2	37	CCDS7343.1																																																																																				0.328	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721	
KAT6B	23522	broad.mit.edu	37	10	76732382	76732382	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:76732382T>G	ENST00000287239.4	+	7	1535	c.1046T>G	c.(1045-1047)tTa>tGa	p.L349*	KAT6B_ENST00000372724.1_Nonsense_Mutation_p.L349*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.L349*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.L349*|KAT6B_ENST00000372725.1_Nonsense_Mutation_p.L349*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	349					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L349*(1)									AAAAATAAATTAAAGCAACGA	0.343																																					p.L349X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1046G	10						.						131.0	138.0	136.0					10																	76732382		2203	4300	6503	76402388	SO:0001587	stop_gained	23522	exon7			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1046T>G	10.37:g.76732382T>G	ENSP00000287239:p.Leu349*		76402388	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	40	8.424321	0.98806	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	5.7	5.7	0.88788	.	0.000000	0.36628	N	0.002497	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.216	15.955	0.79880	0.0:0.0:0.0:1.0	.	.	.	.	X	349	.	ENSP00000287239:L349X	L	+	2	0	KAT6B	76402388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	2.168000	0.68352	0.533000	0.62120	TTA		0.343	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KAT6B	23522	broad.mit.edu	37	10	76744867	76744867	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:76744867C>G	ENST00000287239.4	+	12	2892	c.2403C>G	c.(2401-2403)tgC>tgG	p.C801W	KAT6B_ENST00000372724.1_Missense_Mutation_p.C509W|KAT6B_ENST00000372711.1_Missense_Mutation_p.C618W|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Missense_Mutation_p.C509W|KAT6B_ENST00000372725.1_Missense_Mutation_p.C509W	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	801	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C801W(1)									AAATTTATTGCCAAAACCTTT	0.318																																					p.C801W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2403G	10						.						116.0	112.0	113.0					10																	76744867		2203	4300	6503	76414873	SO:0001583	missense	23522	exon12			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2403C>G	10.37:g.76744867C>G	ENSP00000287239:p.Cys801Trp		76414873	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387936	0.42308	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.89415	-2.42;-2.42;-2.51;-2.42;-2.47	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000038	D	0.96753	0.8940	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97567	1.0102	10	0.87932	D	0	-7.8647	14.2124	0.65773	0.0:0.9237:0.0:0.0763	.	618;509;801	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	W	509;509;801;509;618	ENSP00000361810:C509W;ENSP00000361809:C509W;ENSP00000287239:C801W;ENSP00000361799:C509W;ENSP00000361796:C618W	ENSP00000287239:C801W	C	+	3	2	KAT6B	76414873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.097000	0.57741	2.885000	0.99019	0.650000	0.86243	TGC		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
DUSP13	51207	broad.mit.edu	37	10	76854632	76854632	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:76854632G>A	ENST00000472493.2	-	4	477	c.399C>T	c.(397-399)cgC>cgT	p.R133R	DUSP13_ENST00000607131.1_Silent_p.R226R|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Silent_p.R183R|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000491677.2_Silent_p.R262R|DUSP13_ENST00000464872.1_Silent_p.R82R|DUSP13_ENST00000605915.1_Silent_p.R155R|DUSP13_ENST00000478873.2_Silent_p.R269R	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	133	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262R(1)|p.R133R(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTACCAGCACGCGGCCTGTAG	0.562																																					p.R133R	NSCLC(174;1655 2059 12324 40663 42963)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C399T	10						.						86.0	65.0	72.0					10																	76854632		2203	4300	6503	76524638	SO:0001819	synonymous_variant	51207	exon4			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.399C>T	10.37:g.76854632G>A			76524638	NM_016364	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	ENST00000472493.2	37	CCDS7346.1																																																																																				0.562	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3		
C10orf11	83938	broad.mit.edu	37	10	77806943	77806943	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:77806943C>A	ENST00000372499.1	+	3	411	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	66					melanocyte differentiation (GO:0030318)			p.L66M(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GGAGAACCTGCTGGATCACTT	0.507																																					p.L66M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C196A	10						.						131.0	121.0	125.0					10																	77806943		2203	4300	6503	77476949	SO:0001583	missense	83938	exon3			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.196C>A	10.37:g.77806943C>A	ENSP00000361577:p.Leu66Met		77476949	NM_032024	B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132890	0.56828	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.38722	1.12	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.88704	2.975	0.43095	D	0.99477	D	0.64830	0.994	D	0.68943	0.961	T	0.70806	-0.4772	10	0.49607	T	0.09	-5.6112	11.8159	0.52211	0.0:0.8656:0.0:0.1344	.	66	Q9H2I8	CJ011_HUMAN	M	94;66	ENSP00000361577:L66M	ENSP00000346310:L94M	L	+	1	2	C10orf11	77476949	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	3.598000	0.54038	2.885000	0.99019	0.655000	0.94253	CTG		0.507	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024	
KCNMA1	3778	broad.mit.edu	37	10	78944625	78944625	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:78944625C>T	ENST00000286628.8	-	4	651	c.652G>A	c.(652-654)Gac>Aac	p.D218N	KCNMA1_ENST00000354353.5_Missense_Mutation_p.D218N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D218N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D218N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D218N|KCNMA1_ENST00000286627.5_Missense_Mutation_p.D218N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D218N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D218N	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	218					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.D218N(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAAGCCATGTCGATCTGTAAT	0.418																																					p.D218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	10						.						185.0	166.0	172.0					10																	78944625		2203	4300	6503	78614631	SO:0001583	missense	3778	exon4			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.652G>A	10.37:g.78944625C>T	ENSP00000286628:p.Asp218Asn		78614631	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.059607|4.059607	0.76074|0.76074	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372421	T;T;T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Ion transport (1);|.	0.100042|.	0.64402|.	D|.	0.000003|.	T|T	0.73233|0.73233	0.3561|0.3561	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	B;P;B;P;P;P|.	0.42735|.	0.027;0.478;0.423;0.478;0.788;0.478|.	B;B;B;B;B;B|.	0.41723|.	0.012;0.258;0.168;0.365;0.216;0.258|.	T|T	0.69335|0.69335	-0.5172|-0.5172	10|5	0.72032|.	D|.	0.01|.	-20.5725|-20.5725	19.8617|19.8617	0.96787|0.96787	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;218;218;218;218;218|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	N|Q	218;155;153;192;155;218;218;192;218;218;218|206	ENSP00000361517:D218N;ENSP00000361485:D155N;ENSP00000361514:D153N;ENSP00000396608:D192N;ENSP00000361520:D218N;ENSP00000286627:D218N;ENSP00000385552:D218N;ENSP00000346321:D218N;ENSP00000385806:D218N|.	ENSP00000286627:D218N|.	D|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78614631|78614631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.720000|7.720000	0.84759|0.84759	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.418	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
DLG5	9231	broad.mit.edu	37	10	79571797	79571797	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:79571797G>A	ENST00000372391.2	-	22	4212	c.4207C>T	c.(4207-4209)Cgg>Tgg	p.R1403W	DLG5_ENST00000372388.2_Missense_Mutation_p.R1063W|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1403	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.R1403W(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTGGCGCTCCGCAGGTTTATG	0.647																																					p.R1403W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4207T	10						.						75.0	65.0	68.0					10																	79571797		2203	4300	6503	79241803	SO:0001583	missense	9231	exon22			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4207C>T	10.37:g.79571797G>A	ENSP00000361467:p.Arg1403Trp		79241803	NM_004747	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971636	0.74246	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.29917	1.55;1.55;1.55	5.5	2.06	0.26882	PDZ/DHR/GLGF (4);	0.216466	0.23275	N	0.049980	T	0.64349	0.2590	H	0.96576	3.845	0.38081	D	0.936662	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.72225	-0.4355	10	0.87932	D	0	.	8.7332	0.34512	0.0798:0.0:0.5112:0.409	.	1403;1063	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	W	1403;364;1063	ENSP00000361467:R1403W;ENSP00000394797:R364W;ENSP00000361464:R1063W	ENSP00000361464:R1063W	R	-	1	2	DLG5	79241803	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.258000	0.43249	0.746000	0.32786	0.655000	0.94253	CGG		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2		
POLR3A	11128	broad.mit.edu	37	10	79744968	79744968	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:79744968G>T	ENST00000372371.3	-	24	3339	c.3202C>A	c.(3202-3204)Ccc>Acc	p.P1068T		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1068					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.P1068T(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTAATCCGGGGCACGCCCAGG	0.527																																					p.P1068T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3202A	10						.						136.0	131.0	133.0					10																	79744968		2203	4300	6503	79414974	SO:0001583	missense	11128	exon24			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3202C>A	10.37:g.79744968G>T	ENSP00000361446:p.Pro1068Thr		79414974	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921795	0.92319	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.79554	-1.28	5.95	5.95	0.96441	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96179	0.9129	9	.	.	.	-25.1454	20.3802	0.98930	0.0:0.0:1.0:0.0	.	1068	O14802	RPC1_HUMAN	T	1068;1047	ENSP00000361446:P1068T	.	P	-	1	0	POLR3A	79414974	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.275000	0.95738	2.822000	0.97130	0.563000	0.77884	CCC		0.527	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
POLR3A	11128	broad.mit.edu	37	10	79745917	79745917	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:79745917C>T	ENST00000372371.3	-	22	3039	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	968					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.E968K(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTTTTATTTCCTGAAAGATT	0.348																																					p.E968K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2902A	10						.						108.0	110.0	109.0					10																	79745917		2203	4300	6503	79415923	SO:0001630	splice_region_variant	11128	exon22			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2902-1G>A	10.37:g.79745917C>T			79415923	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457618	0.63401	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67698	-0.28	5.55	4.64	0.57946	RNA polymerase Rpb1, domain 5 (1);	0.109128	0.64402	D	0.000010	T	0.57917	0.2086	L	0.38649	1.16	0.80722	D	1	B	0.29835	0.258	B	0.31614	0.133	T	0.53265	-0.8463	9	.	.	.	-28.0398	15.9665	0.79974	0.1355:0.8645:0.0:0.0	.	968	O14802	RPC1_HUMAN	K	968	ENSP00000361446:E968K	.	E	-	1	0	POLR3A	79415923	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.738000	0.68613	1.323000	0.45263	0.557000	0.71058	GAA		0.348	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	Missense_Mutation
POLR3A	11128	broad.mit.edu	37	10	79764633	79764633	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:79764633G>T	ENST00000372371.3	-	16	2225	c.2088C>A	c.(2086-2088)ttC>ttA	p.F696L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	696					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.F696L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCCCAATTGAGAAACCACGGT	0.453																																					p.F696L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2088A	10						.						106.0	92.0	96.0					10																	79764633		2203	4300	6503	79434639	SO:0001583	missense	11128	exon16			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2088C>A	10.37:g.79764633G>T	ENSP00000361446:p.Phe696Leu		79434639	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228660	0.58777	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.80123	-1.34	5.79	3.95	0.45737	RNA polymerase Rpb1, domain 3 (1);	0.049038	0.85682	D	0.000000	T	0.81517	0.4839	M	0.85859	2.78	0.80722	D	1	P	0.34639	0.461	B	0.37650	0.255	T	0.78201	-0.2296	9	.	.	.	-26.3868	9.0197	0.36193	0.2771:0.0:0.7229:0.0	.	696	O14802	RPC1_HUMAN	L	696	ENSP00000361446:F696L	.	F	-	3	2	POLR3A	79434639	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.662000	0.46766	0.794000	0.33899	0.650000	0.86243	TTC		0.453	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
POLR3A	11128	broad.mit.edu	37	10	79785513	79785513	+	Missense_Mutation	SNP	G	G	A	rs185508362		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:79785513G>A	ENST00000372371.3	-	3	322	c.185C>T	c.(184-186)aCg>aTg	p.T62M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	62					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.T62M(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTTCTCACTCGTACCCTTTGA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17867	0.0		0.001	False		,,,				2504	0.0				p.T62M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185T	10						.						117.0	108.0	111.0					10																	79785513		2203	4300	6503	79455519	SO:0001583	missense	11128	exon3			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.185C>T	10.37:g.79785513G>A	ENSP00000361446:p.Thr62Met		79455519	NM_007055	Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.36	3.370937	0.61624	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.26660	1.72	5.18	5.18	0.71444	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	M	0.80982	2.52	0.80722	D	1	D	0.60575	0.988	B	0.42995	0.404	T	0.45818	-0.9235	9	.	.	.	-17.7882	18.6999	0.91617	0.0:0.0:1.0:0.0	.	62	O14802	RPC1_HUMAN	M	62	ENSP00000361446:T62M	.	T	-	2	0	POLR3A	79455519	1.000000	0.71417	0.238000	0.24106	0.695000	0.40330	9.102000	0.94226	2.412000	0.81896	0.555000	0.69702	ACG		0.483	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
ZMIZ1	57178	broad.mit.edu	37	10	81050780	81050780	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:81050780C>T	ENST00000334512.5	+	10	1177	c.605C>T	c.(604-606)tCg>tTg	p.S202L	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	202					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S202L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCATGGCGTCGGGCATGACC	0.612																																					p.S202L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C605T	10						.						116.0	98.0	104.0					10																	81050780		2203	4300	6503	80720786	SO:0001583	missense	57178	exon10			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.605C>T	10.37:g.81050780C>T	ENSP00000334474:p.Ser202Leu		80720786	NM_020338	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717754	0.96839	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	T	0.32515	1.45	5.67	5.67	0.87782	.	0.000000	0.37095	N	0.002246	T	0.52597	0.1744	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.77557	0.99;0.787	T	0.46693	-0.9173	10	0.52906	T	0.07	-6.3626	19.7667	0.96346	0.0:1.0:0.0:0.0	.	112;202	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	L	202;132	ENSP00000334474:S202L	ENSP00000334474:S202L	S	+	2	0	ZMIZ1	80720786	1.000000	0.71417	0.870000	0.34147	0.998000	0.95712	7.487000	0.81328	2.681000	0.91329	0.655000	0.94253	TCG		0.612	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
FAM213A	84293	broad.mit.edu	37	10	82191769	82191769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:82191769G>T	ENST00000372181.1	+	5	1074	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FAM213A_ENST00000372185.1_Nonsense_Mutation_p.E191*|FAM213A_ENST00000372188.1_Nonsense_Mutation_p.E202*|FAM213A_ENST00000372187.5_Nonsense_Mutation_p.E202*|RP11-137H2.6_ENST00000606162.1_lincRNA	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	202					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.E202*(1)									CCGAGAAAAAGAATTTGGAGA	0.418																																					p.E202X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G604T	10						.						94.0	93.0	94.0					10																	82191769		2203	4300	6503	82181749	SO:0001587	stop_gained	84293	exon6			AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.604G>T	10.37:g.82191769G>T	ENSP00000361254:p.Glu202*		82181749	NM_032333	B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Nonsense_Mutation	SNP	ENST00000372181.1	37	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	39	7.903141	0.98551	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.0916	16.8213	0.85747	0.0:0.0:1.0:0.0	.	.	.	.	X	202;202;191;202	.	ENSP00000361254:E202X	E	+	1	0	C10orf58	82181749	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.455000	0.73497	2.561000	0.86390	0.650000	0.86243	GAA		0.418	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2		
SH2D4B	387694	broad.mit.edu	37	10	82363342	82363342	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:82363342G>A	ENST00000470604.2	+	5	648	c.648G>A	c.(646-648)cgG>cgA	p.R216R	SH2D4B_ENST00000339284.2_Silent_p.R217R|SH2D4B_ENST00000313455.4_Silent_p.R168R			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	216	Glu-rich.							p.R217R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CAGTGCGCCGGTCCAAGGCGG	0.647																																					p.R217R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	10						.						13.0	14.0	14.0					10																	82363342		2167	4257	6424	82353322	SO:0001819	synonymous_variant	387694	exon5				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.648G>A	10.37:g.82363342G>A			82353322	NM_207372	Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37																																																																																					0.647	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984	
SH2D4B	387694	broad.mit.edu	37	10	82403754	82403754	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:82403754A>C	ENST00000470604.2	+	8	1209	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D	SH2D4B_ENST00000339284.2_Missense_Mutation_p.N331H|SH2D4B_ENST00000313455.4_Missense_Mutation_p.N283H|SH2D4B_ENST00000372150.3_3'UTR			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	403	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.							p.N331H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TTTAGGAGGAAATTATCACTG	0.393																																					p.N331H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A991C	10						.						78.0	78.0	78.0					10																	82403754		2203	4300	6503	82393734	SO:0001583	missense	387694	exon7				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1209A>C	10.37:g.82403754A>C	ENSP00000417953:p.Glu403Asp		82393734	NM_207372	Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.31|19.31	3.803534|3.803534	0.70682|0.70682	.|.	.|.	ENSG00000178217|ENSG00000178217	ENST00000470604|ENST00000339284;ENST00000313455	T|T;T	0.38240|0.13420	1.15|2.65;2.59	5.05|5.05	1.16|1.16	0.20824|0.20824	SH2 motif (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.14485|0.14485	0.0350|0.0350	.|.	.|.	.|.	0.22096|0.22096	N|N	0.999368|0.999368	D|P;P	0.76494|0.47191	0.999|0.891;0.514	D|B;B	0.77004|0.44224	0.989|0.444;0.351	T|T	0.12426|0.12426	-1.0548|-1.0548	9|8	0.51188|0.72032	T|D	0.08|0.01	-10.9231|-10.9231	8.3932|8.3932	0.32542|0.32542	0.7543:0.0:0.2457:0.0|0.7543:0.0:0.2457:0.0	.|.	403|283;331	Q5SQS7|Q5SQS7-3;Q5SQS7-2	SH24B_HUMAN|.;.	D|H	403|331;283	ENSP00000417953:E403D|ENSP00000345295:N331H;ENSP00000314242:N283H	ENSP00000417953:E403D|ENSP00000314242:N283H	E|N	+|+	3|1	2|0	SH2D4B|SH2D4B	82393734|82393734	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	2.676000|2.676000	0.46883|0.46883	0.008000|0.008000	0.14787|0.14787	0.482000|0.482000	0.46254|0.46254	GAA|AAT		0.393	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984	
NRG3	10718	broad.mit.edu	37	10	83635919	83635919	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:83635919C>T	ENST00000404547.1	+	1	823	c.823C>T	c.(823-825)Cat>Tat	p.H275Y	NRG3_ENST00000372141.2_Splice_Site_p.H275Y|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	275	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.H275Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCCAAATTTCGTAAGTAAAC	0.517																																					p.H275Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C823T	10						.						23.0	16.0	19.0					10																	83635919		2202	4298	6500	83625899	SO:0001630	splice_region_variant	10718	exon1			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.823+1C>T	10.37:g.83635919C>T			83625899	NM_001010848	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	5.213	0.224776	0.09916	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.35973	1.28;1.28	4.14	4.14	0.48551	.	0.129391	0.34314	N	0.004070	T	0.21387	0.0515	N	0.14661	0.345	0.80722	D	1	D;D	0.65815	0.995;0.992	P;B	0.45071	0.468;0.41	T	0.06285	-1.0835	10	0.02654	T	1	-4.5388	14.3436	0.66643	0.0:1.0:0.0:0.0	.	275;275	B9EGV5;P56975-4	.;.	Y	275	ENSP00000361214:H275Y;ENSP00000384796:H275Y	ENSP00000361214:H275Y	H	+	1	0	NRG3	83625899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.669000	0.61575	2.318000	0.78349	0.650000	0.86243	CAT		0.517	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	Missense_Mutation
NRG3	10718	broad.mit.edu	37	10	84745121	84745121	+	Missense_Mutation	SNP	C	C	A	rs148300013		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:84745121C>A	ENST00000404547.1	+	10	1923	c.1923C>A	c.(1921-1923)agC>agA	p.S641R	NRG3_ENST00000372141.2_Missense_Mutation_p.S617R|NRG3_ENST00000372142.2_Missense_Mutation_p.S420R|NRG3_ENST00000537893.1_Missense_Mutation_p.S267R|NRG3_ENST00000556918.1_Missense_Mutation_p.S447R|NRG3_ENST00000545131.1_Missense_Mutation_p.S267R|NRG3_ENST00000404576.2_Missense_Mutation_p.S421R			P56975	NRG3_HUMAN	neuregulin 3	641					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S617R(1)|p.S420R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCCAGTCAGCGATTGTCTTA	0.433																																					p.S420R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1260A	10						.						82.0	80.0	81.0					10																	84745121		2203	4300	6503	84735101	SO:0001583	missense	10718	exon11			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1923C>A	10.37:g.84745121C>A	ENSP00000384796:p.Ser641Arg		84735101	NM_001165973	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655586	0.47467	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.56611	1.08;1.11;1.12;0.45;1.02;0.56;0.56	5.96	2.98	0.34508	.	0.209202	0.48286	D	0.000184	T	0.52821	0.1758	L	0.43152	1.355	0.35648	D	0.811556	P;P;P;D	0.53312	0.667;0.949;0.773;0.959	P;P;B;P	0.52909	0.473;0.713;0.36;0.648	T	0.61983	-0.6950	10	0.87932	D	0	-27.4467	8.8117	0.34971	0.0:0.7339:0.0:0.2661	.	616;641;420;617	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	R	617;641;616;420;421;447;267;267	ENSP00000361214:S617R;ENSP00000384796:S641R;ENSP00000361215:S420R;ENSP00000385804:S421R;ENSP00000451376:S447R;ENSP00000441201:S267R;ENSP00000440377:S267R	ENSP00000361214:S617R	S	+	3	2	NRG3	84735101	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.247000	0.18179	0.340000	0.23745	0.655000	0.94253	AGC		0.433	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086	
GHITM	27069	broad.mit.edu	37	10	85903852	85903852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:85903852G>T	ENST00000372134.3	+	4	524	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	111					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.E111*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TGGAGCTATTGAAAAGGCTGT	0.388																																					p.E111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G331T	10						.						205.0	205.0	205.0					10																	85903852		1955	4128	6083	85893832	SO:0001587	stop_gained	27069	exon4			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.331G>T	10.37:g.85903852G>T	ENSP00000361207:p.Glu111*		85893832	NM_014394	A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Nonsense_Mutation	SNP	ENST00000372134.3	37	CCDS41542.1	.	.	.	.	.	.	.	.	.	.	G	39	7.783360	0.98486	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	6.16	6.16	0.99307	.	0.085209	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-23.1364	19.6313	0.95704	0.0:0.0:1.0:0.0	.	.	.	.	X	111;98;111;91	.	ENSP00000342214:E91X	E	+	1	0	GHITM	85893832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.306000	0.96204	2.937000	0.99478	0.650000	0.86243	GAA		0.388	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	
LRIT2	340745	broad.mit.edu	37	10	85984209	85984209	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:85984209G>A	ENST00000372113.4	-	2	777	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	LRIT2_ENST00000538192.1_Missense_Mutation_p.P258S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	258	Ig-like.					integral component of membrane (GO:0016021)		p.P258S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGGCACTGGGGGTTGAGATC	0.542																																					p.P258S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772T	10						.						112.0	102.0	106.0					10																	85984209		2203	4300	6503	85974189	SO:0001583	missense	340745	exon2				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.772C>T	10.37:g.85984209G>A	ENSP00000361185:p.Pro258Ser		85974189	NM_001017924	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959852	0.34565	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.66995	-0.24;-0.24	5.76	3.85	0.44370	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.212817	0.49305	N	0.000143	T	0.54919	0.1888	L	0.41961	1.31	0.36871	D	0.888911	P;P	0.37083	0.581;0.521	B;B	0.39258	0.295;0.169	T	0.53114	-0.8484	10	0.08599	T	0.76	.	10.5465	0.45062	0.1673:0.0:0.8327:0.0	.	258;258	B7ZME6;A6NDA9	.;LRIT2_HUMAN	S	258	ENSP00000361185:P258S;ENSP00000438264:P258S	ENSP00000361185:P258S	P	-	1	0	LRIT2	85974189	0.983000	0.35010	0.991000	0.47740	0.999000	0.98932	2.541000	0.45735	0.724000	0.32296	0.655000	0.94253	CCC		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697	
LRIT1	26103	broad.mit.edu	37	10	85992306	85992306	+	Nonsense_Mutation	SNP	C	C	A	rs144402289		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:85992306C>A	ENST00000372105.3	-	4	1270	c.1249G>T	c.(1249-1251)Gag>Tag	p.E417*		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	417						integral component of endoplasmic reticulum membrane (GO:0030176)		p.E417*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TCAGAGAGCTCTCCCAGGGCA	0.617																																					p.E417X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1249T	10						.						82.0	72.0	75.0					10																	85992306		2203	4300	6503	85982286	SO:0001587	stop_gained	26103	exon4			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1249G>T	10.37:g.85992306C>A	ENSP00000361177:p.Glu417*		85982286	NM_015613	Q0QD41|Q9Y4N7	Nonsense_Mutation	SNP	ENST00000372105.3	37	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528200	0.44969	.	.	ENSG00000148602	ENST00000372105	.	.	.	5.23	4.27	0.50696	.	0.619591	0.16854	N	0.196819	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	13.5716	0.61849	0.0:0.7535:0.2465:0.0	.	.	.	.	X	417	.	ENSP00000361177:E417X	E	-	1	0	LRIT1	85982286	0.757000	0.28394	0.054000	0.19295	0.133000	0.20885	2.380000	0.44327	2.435000	0.82474	0.655000	0.94253	GAG		0.617	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
CCSER2	54462	broad.mit.edu	37	10	86131788	86131788	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:86131788G>A	ENST00000224756.8	+	2	1165	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	CCSER2_ENST00000359979.4_Missense_Mutation_p.R327Q|CCSER2_ENST00000372088.2_Missense_Mutation_p.R327Q	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	327					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.R327Q(1)									AAATCTAGCCGATCTCCATTT	0.423																																					p.R327Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G980A	10						.						107.0	107.0	107.0					10																	86131788		2203	4300	6503	86121768	SO:0001583	missense	54462	exon2				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.980G>A	10.37:g.86131788G>A	ENSP00000224756:p.Arg327Gln		86121768	NM_018999	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113716	0.56398	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50548	0.74;2.09;2.08	5.73	3.88	0.44766	.	0.203885	0.31721	N	0.007175	T	0.57242	0.2040	L	0.52364	1.645	0.80722	D	1	P;P;D	0.89917	0.944;0.944;1.0	B;B;D	0.83275	0.372;0.252;0.996	T	0.51364	-0.8715	10	0.16896	T	0.51	-4.8321	10.4304	0.44405	0.1587:0.0:0.8413:0.0	.	327;327;327	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	Q	327	ENSP00000353068:R327Q;ENSP00000224756:R327Q;ENSP00000361160:R327Q	ENSP00000224756:R327Q	R	+	2	0	FAM190B	86121768	0.991000	0.36638	0.998000	0.56505	0.995000	0.86356	2.452000	0.44961	0.778000	0.33520	0.655000	0.94253	CGA		0.423	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999	
GRID1	2894	broad.mit.edu	37	10	87379701	87379701	+	Silent	SNP	G	G	A	rs112935027		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:87379701G>A	ENST00000327946.7	-	14	2368	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	GRID1_ENST00000536331.1_Silent_p.I332I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	761					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.I761I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGCTGTTGCCGATGACAGTCA	0.582										Multiple Myeloma(13;0.14)																											p.I761I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2283T	10						.						134.0	98.0	110.0					10																	87379701		2203	4300	6503	87369681	SO:0001819	synonymous_variant	2894	exon14			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2283C>T	10.37:g.87379701G>A			87369681	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
GRID1	2894	broad.mit.edu	37	10	87482865	87482865	+	Missense_Mutation	SNP	C	C	T	rs191266908	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:87482865C>T	ENST00000327946.7	-	12	1977	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	GRID1_ENST00000536331.1_Missense_Mutation_p.R202H	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	631					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R631H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CATCACGATGCGCATGGCCAT	0.592										Multiple Myeloma(13;0.14)			C|||	3	0.000599042	0.0	0.0014	5008	,	,		19208	0.0		0.001	False		,,,				2504	0.001				p.R631H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1892A	10						.						121.0	88.0	99.0					10																	87482865		2203	4300	6503	87472845	SO:0001583	missense	2894	exon12			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1892G>A	10.37:g.87482865C>T	ENSP00000330148:p.Arg631His		87472845	NM_017551	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	CCDS31236.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.563782	0.96527	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.74526	-0.85;-0.85	5.95	5.95	0.96441	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.047867	0.85682	D	0.000000	D	0.91257	0.7244	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93199	0.6590	10	0.87932	D	0	.	19.3527	0.94395	0.0:1.0:0.0:0.0	.	631	Q9ULK0	GRID1_HUMAN	H	631;202	ENSP00000330148:R631H;ENSP00000444455:R202H	ENSP00000330148:R631H	R	-	2	0	GRID1	87472845	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.743000	0.85020	2.821000	0.97095	0.561000	0.74099	CGC		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
WAPAL	23063	broad.mit.edu	37	10	88227215	88227215	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88227215G>A	ENST00000298767.5	-	9	2663	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	WAPAL_ENST00000372075.1_5'UTR|WAPAL_ENST00000263070.7_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	731	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.R731C(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGTTCAAACGATCTCTACTC	0.383																																					p.R731C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2191T	10						.						80.0	70.0	73.0					10																	88227215		2203	4300	6503	88217195	SO:0001583	missense	23063	exon9			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2191C>T	10.37:g.88227215G>A	ENSP00000298767:p.Arg731Cys		88217195	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315377	0.95655	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.49720	0.77	5.99	5.99	0.97316	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.92;1.0;0.92;0.917	T	0.73225	-0.4050	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	725;769;731;768	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	C	816;731;816	ENSP00000298767:R731C	ENSP00000298767:R731C	R	-	1	0	WAPAL	88217195	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGT		0.383	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
WAPAL	23063	broad.mit.edu	37	10	88260098	88260098	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88260098T>G	ENST00000298767.5	-	3	1374	c.902A>C	c.(901-903)aAa>aCa	p.K301T		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	301	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.K301T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGATTTCGTTTTATTGGCCCT	0.423																																					p.K301T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A902C	10						.						139.0	128.0	132.0					10																	88260098		2203	4300	6503	88250078	SO:0001583	missense	23063	exon3			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.902A>C	10.37:g.88260098T>G	ENSP00000298767:p.Lys301Thr		88250078	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714231	0.68730	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.29397	1.57	5.77	5.77	0.91146	.	0.062141	0.64402	D	0.000007	T	0.51669	0.1688	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	P;P;D	0.69479	0.888;0.888;0.964	T	0.50482	-0.8823	10	0.52906	T	0.07	.	16.0902	0.81086	0.0:0.0:0.0:1.0	.	301;301;344	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	T	386;301;386	ENSP00000298767:K301T	ENSP00000298767:K301T	K	-	2	0	WAPAL	88250078	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.019000	0.76412	2.194000	0.70268	0.528000	0.53228	AAA		0.423	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
OPN4	94233	broad.mit.edu	37	10	88419161	88419161	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88419161C>T	ENST00000241891.5	+	5	903	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	OPN4_ENST00000372071.2_Missense_Mutation_p.L257F	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	246					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.L257F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGTGTTCTTCCTCCCTCTGCT	0.592																																					p.L257F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	10						.						260.0	190.0	214.0					10																	88419161		2203	4300	6503	88409141	SO:0001583	missense	94233	exon6			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.736C>T	10.37:g.88419161C>T	ENSP00000241891:p.Leu246Phe		88409141	NM_001030015	B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693067	0.68271	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.42900	0.96;0.96;0.96	5.15	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.156406	0.39083	N	0.001476	T	0.47948	0.1473	L	0.45744	1.44	0.40839	D	0.983653	D;D;D	0.67145	0.996;0.992;0.99	D;P;P	0.65684	0.937;0.889;0.843	T	0.46442	-0.9191	10	0.66056	D	0.02	.	4.6123	0.12408	0.3818:0.4202:0.0:0.198	.	257;246;257	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	F	257;246;257	ENSP00000361141:L257F;ENSP00000241891:L246F;ENSP00000393132:L257F	ENSP00000241891:L246F	L	+	1	0	OPN4	88409141	1.000000	0.71417	0.910000	0.35882	0.941000	0.58515	2.970000	0.49240	0.570000	0.29347	0.655000	0.94253	CTC		0.592	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282	
AGAP11	119385	broad.mit.edu	37	10	88768132	88768132	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88768132G>A	ENST00000444431.1	+	0	2732				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TGCACATTACGAAGAAAAGAA	0.448																																					p.T41T												.	.	0			c.G123A	10						.						119.0	112.0	114.0					10																	88768132		2019	4226	6245	88758112			119385	exon12					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768132G>A			88758112	NM_133447	B9EIP7|D3DWE4	Silent	SNP	ENST00000444431.1	37																																																																																					0.448	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447	
AGAP11	119385	broad.mit.edu	37	10	88768686	88768686	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88768686G>T	ENST00000444431.1	+	0	3286				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ATATGCTTCAGCCCCAGTATC	0.507																																					p.S226I												.	.	0			c.G677T	10						.						71.0	82.0	78.0					10																	88768686		2203	4300	6503	88758666			119385	exon12					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768686G>T			88758666	NM_133447	B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37																																																																																					0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447	
AGAP11	119385	broad.mit.edu	37	10	88768826	88768826	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88768826G>T	ENST00000444431.1	+	0	3426				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GGAAGAAGAAGAAAAGTTTAT	0.493																																					p.E273X												.	.	0			c.G817T	10						.						78.0	88.0	85.0					10																	88768826		2202	4299	6501	88758806			119385	exon12					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768826G>T			88758806	NM_133447	B9EIP7|D3DWE4	Nonsense_Mutation	SNP	ENST00000444431.1	37																																																																																					0.493	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447	
AGAP11	119385	broad.mit.edu	37	10	88768972	88768972	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88768972G>T	ENST00000444431.1	+	0	3572				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GCAAGTCCCAGCTGACCAGCC	0.592																																					p.Q321H												.	.	0			c.G963T	10						.						96.0	104.0	101.0					10																	88768972		2203	4297	6500	88758952			119385	exon12					10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768972G>T			88758952	NM_133447	B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37																																																																																					0.592	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447	
FAM35A	54537	broad.mit.edu	37	10	88911886	88911886	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:88911886G>T	ENST00000298784.1	+	3	889	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	RN7SL733P_ENST00000582253.1_RNA|FAM35A_ENST00000298786.4_Missense_Mutation_p.D259Y	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	259								p.D259Y(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAAAAGAAAGATAAAAGGCG	0.388																																					p.D259Y	Ovarian(175;703 2004 25460 32514 43441)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775T	10						.						28.0	29.0	28.0					10																	88911886		2196	4296	6492	88901866	SO:0001583	missense	54537	exon3			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.775G>T	10.37:g.88911886G>T	ENSP00000298784:p.Asp259Tyr		88901866	NM_019054	O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	g	0.890	-0.725883	0.03158	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.23754	1.89;1.89;1.89	3.79	-3.13	0.05266	.	1.863010	0.02989	N	0.146670	T	0.11879	0.0289	N	0.16656	0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	10	0.02654	T	1	2.7682	4.7606	0.13106	0.0862:0.0927:0.4231:0.398	.	259	Q86V20	FA35A_HUMAN	Y	259	ENSP00000298786:D259Y;ENSP00000298784:D259Y;ENSP00000351064:D259Y	ENSP00000298784:D259Y	D	+	1	0	FAM35A	88901866	0.000000	0.05858	0.000000	0.03702	0.672000	0.39443	-0.616000	0.05591	-0.317000	0.08677	0.537000	0.68136	GAT		0.388	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
MINPP1	9562	broad.mit.edu	37	10	89312018	89312018	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89312018T>G	ENST00000371996.4	+	5	1288	c.1247T>G	c.(1246-1248)aTa>aGa	p.I416R	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.I215R	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	416					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)	p.I416R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TCGAACCTGATATTTGTGCTT	0.388																																					p.I215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T644G	10						.						139.0	132.0	134.0					10																	89312018		2203	4300	6503	89301998	SO:0001583	missense	9562	exon5			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1247T>G	10.37:g.89312018T>G	ENSP00000361064:p.Ile416Arg		89301998	NM_001178118	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743691	0.69418	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.32272	1.46;1.46	6.08	6.08	0.98989	.	0.283491	0.39020	N	0.001499	T	0.35885	0.0947	L	0.58101	1.795	0.46149	D	0.998896	P	0.51057	0.941	P	0.49047	0.599	T	0.12243	-1.0555	10	0.30854	T	0.27	-6.8826	8.8892	0.35423	0.0:0.1413:0.0:0.8587	.	416	Q9UNW1	MINP1_HUMAN	R	416;275;215	ENSP00000361064:I416R;ENSP00000437823:I215R	ENSP00000361064:I416R	I	+	2	0	MINPP1	89301998	0.923000	0.31300	0.709000	0.30452	0.912000	0.54170	3.889000	0.56212	2.333000	0.79357	0.482000	0.46254	ATA		0.388	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1		
PAPSS2	9060	broad.mit.edu	37	10	89472834	89472834	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89472834C>A	ENST00000361175.4	+	3	517	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	PAPSS2_ENST00000456849.1_Missense_Mutation_p.L50I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.L54I|PAPSS2_ENST00000482258.1_3'UTR	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	50					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.L50I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTGAACAGGTCTCTCTGGTGC	0.408																																					p.L50I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148A	10						.						130.0	133.0	132.0					10																	89472834		2203	4300	6503	89462814	SO:0001583	missense	9060	exon3			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.148C>A	10.37:g.89472834C>A	ENSP00000354436:p.Leu50Ile		89462814	NM_001015880	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341611	0.81911	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.78816	-1.21;-1.21;-1.21	5.87	5.87	0.94306	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92818	0.7716	H	0.96970	3.915	0.80722	D	1	D;D	0.71674	0.99;0.998	D;D	0.83275	0.994;0.996	D	0.94436	0.7654	10	0.87932	D	0	-24.579	20.2245	0.98337	0.0:1.0:0.0:0.0	.	50;50	O95340;O95340-2	PAPS2_HUMAN;.	I	50;50;54;49	ENSP00000354436:L50I;ENSP00000406157:L50I;ENSP00000397123:L54I	ENSP00000354436:L50I	L	+	1	0	PAPSS2	89462814	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.566000	0.67372	2.770000	0.95276	0.650000	0.86243	CTC		0.408	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		
PAPSS2	9060	broad.mit.edu	37	10	89501105	89501105	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89501105G>T	ENST00000361175.4	+	9	1554	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	PAPSS2_ENST00000456849.1_Missense_Mutation_p.Q400H|PAPSS2_ENST00000427144.2_Missense_Mutation_p.Q399H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	395					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.Q395H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCTCAAACAGAAATGTAAAG	0.438																																					p.Q400H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1200T	10						.						132.0	122.0	126.0					10																	89501105		2203	4300	6503	89491085	SO:0001583	missense	9060	exon10			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1185G>T	10.37:g.89501105G>T	ENSP00000354436:p.Gln395His		89491085	NM_001015880	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745506	0.69418	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.33216	1.42;1.42;1.42	5.15	5.15	0.70609	Sulphate adenylyltransferase (2);	0.051139	0.85682	D	0.000000	T	0.49898	0.1584	M	0.75777	2.31	0.58432	D	0.999991	B;P	0.36616	0.001;0.561	B;P	0.48063	0.031;0.565	T	0.51631	-0.8681	10	0.62326	D	0.03	-18.5656	18.8112	0.92058	0.0:0.0:1.0:0.0	.	395;400	O95340;O95340-2	PAPS2_HUMAN;.	H	395;400;399;399	ENSP00000354436:Q395H;ENSP00000406157:Q400H;ENSP00000397123:Q399H	ENSP00000354436:Q395H	Q	+	3	2	PAPSS2	89491085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.973000	0.49264	2.676000	0.91093	0.591000	0.81541	CAG		0.438	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		
ATAD1	84896	broad.mit.edu	37	10	89514504	89514504	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89514504C>A	ENST00000308448.7	-	10	1404	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	ATAD1_ENST00000400215.3_Missense_Mutation_p.K254N|ATAD1_ENST00000328142.3_Missense_Mutation_p.K342N	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	342					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K342N(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATTTCTTCATCTTTTCAATTG	0.353																																					p.K342N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1026T	10						.						98.0	86.0	90.0					10																	89514504		2203	4300	6503	89504484	SO:0001583	missense	84896	exon10			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.1026G>T	10.37:g.89514504C>A	ENSP00000339017:p.Lys342Asn		89504484	NM_032810	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273423	0.40194	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215	D;D;D	0.99060	-5.38;-5.38;-5.38	5.36	3.52	0.40303	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.73598	2.24	0.80722	D	1	B;B	0.26876	0.162;0.162	B;B	0.24155	0.051;0.051	D	0.95554	0.8623	10	0.34782	T	0.22	-17.9175	8.4807	0.33040	0.0:0.7053:0.0:0.2947	.	254;342	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	N	342;342;254	ENSP00000339017:K342N;ENSP00000339016:K342N;ENSP00000412968:K254N	ENSP00000339017:K342N	K	-	3	2	ATAD1	89504484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.838000	0.27572	0.754000	0.32968	0.563000	0.77884	AAG		0.353	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810	
ATAD1	84896	broad.mit.edu	37	10	89550136	89550136	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89550136C>A	ENST00000308448.7	-	4	691	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	ATAD1_ENST00000541004.1_Missense_Mutation_p.D105Y|ATAD1_ENST00000400215.3_Missense_Mutation_p.D47Y|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Missense_Mutation_p.D105Y	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	105					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D105Y(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATGACTGTGTCTTTCAGATCC	0.373																																					p.D105Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313T	10						.						121.0	114.0	117.0					10																	89550136		2203	4300	6503	89540116	SO:0001583	missense	84896	exon4			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.313G>T	10.37:g.89550136C>A	ENSP00000339017:p.Asp105Tyr		89540116	NM_032810	D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354320	0.82243	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.96802	-3.47;-3.47;-4.13;-3.77	5.4	4.5	0.54988	.	0.142073	0.64402	D	0.000005	D	0.97439	0.9162	M	0.82433	2.59	0.80722	D	1	P;P	0.45474	0.848;0.859	P;P	0.55161	0.77;0.77	D	0.97277	0.9915	9	.	.	.	-7.9456	14.1714	0.65512	0.0:0.9275:0.0:0.0725	.	47;105	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	Y	105;105;47;105	ENSP00000339017:D105Y;ENSP00000339016:D105Y;ENSP00000412968:D47Y;ENSP00000445500:D105Y	.	D	-	1	0	ATAD1	89540116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.404000	0.46819	0.563000	0.77884	GAC		0.373	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810	
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.R130Q		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,central_nervous_system,brain,Substitution - Nonsense,+1	.	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	c.G389A	10	GRCh37	CM981670|CM991081	PTEN	M	rs121909229	.						139.0	129.0	133.0					10																	89692905		2203	4300	6503	89682885	SO:0001583	missense	5728	exon5	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		89682885	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89711876	89711876	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:89711876G>A	ENST00000371953.3	+	6	1851	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	165	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in CWS1). {ECO:0000269|PubMed:10234502}.|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9331071}.|G -> V (in CWS1).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.G165E(6)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.G165V(1)|p.G165del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTCCACCAGGGAGTAACTATT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.G165E		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,central_nervous_system,brain,Substitution - Missense,0	.	61	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(7)|Unknown(4)|Deletion - In frame(2)|Complex - compound substitution(1)	central_nervous_system(17)|prostate(16)|skin(8)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|thyroid(1)|large_intestine(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)|pancreas(1)	c.G494A	10	GRCh37	CM981671|CM993670	PTEN	M		.						107.0	111.0	109.0					10																	89711876		2203	4300	6503	89701856	SO:0001630	splice_region_variant	5728	exon6	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.493-1G>A	10.37:g.89711876G>A			89701856	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058096	0.93846	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.049404	0.85682	D	0.000000	D	0.99417	0.9794	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	9	.	.	.	-2.7522	19.9308	0.97118	0.0:0.0:1.0:0.0	.	165	P60484	PTEN_HUMAN	E	165	ENSP00000361021:G165E	.	G	+	2	0	PTEN	89701856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.722000	0.93159	0.591000	0.81541	GGA		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation
LIPJ	142910	broad.mit.edu	37	10	90365400	90365400	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90365400C>A	ENST00000371939.3	+	10	1120	c.806C>A	c.(805-807)tCt>tAt	p.S269Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	269					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.S269Y(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CTTTTAAATTCTACTCATTTG	0.353																																					p.S269Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C806A	10						.						91.0	92.0	91.0					10																	90365400		2203	4300	6503	90355380	SO:0001583	missense	142910	exon10			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.806C>A	10.37:g.90365400C>A	ENSP00000361007:p.Ser269Tyr		90355380	NM_001010939	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746262	0.30955	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.72725	-0.68;-0.68	3.69	2.74	0.32292	Alpha/beta hydrolase fold-1 (1);	0.508491	0.16724	N	0.202147	T	0.75324	0.3834	M	0.79693	2.465	0.09310	N	1	P	0.35628	0.513	B	0.43838	0.433	T	0.67933	-0.5542	10	0.56958	D	0.05	-12.348	10.1134	0.42576	0.2021:0.7979:0.0:0.0	.	269	Q5W064	LIPJ_HUMAN	Y	269;84	ENSP00000361007:S269Y;ENSP00000434211:S84Y	ENSP00000361007:S269Y	S	+	2	0	LIPJ	90355380	0.377000	0.25106	0.052000	0.19188	0.011000	0.07611	2.640000	0.46579	0.830000	0.34757	0.643000	0.83706	TCT		0.353	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377	
LIPJ	142910	broad.mit.edu	37	10	90366571	90366571	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90366571T>G	ENST00000371939.3	+	11	1322	c.1008T>G	c.(1006-1008)atT>atG	p.I336M		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	336					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.I336M(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ATAAAACTATTTCTTACTACA	0.308																																					p.I336M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1008G	10						.						50.0	52.0	51.0					10																	90366571		2203	4299	6502	90356551	SO:0001583	missense	142910	exon11			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.1008T>G	10.37:g.90366571T>G	ENSP00000361007:p.Ile336Met		90356551	NM_001010939	A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666754	0.47677	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.73469	-0.75;-0.75	5.42	3.0	0.34707	Alpha/beta hydrolase fold-1 (1);	0.000000	0.44097	D	0.000490	T	0.81578	0.4852	M	0.71296	2.17	0.24793	N	0.992747	P	0.49635	0.926	D	0.72338	0.977	T	0.70641	-0.4816	10	0.56958	D	0.05	-27.7535	5.2011	0.15264	0.0:0.1581:0.1522:0.6898	.	336	Q5W064	LIPJ_HUMAN	M	336;151	ENSP00000361007:I336M;ENSP00000434211:I151M	ENSP00000361007:I336M	I	+	3	3	LIPJ	90356551	0.943000	0.32029	0.142000	0.22268	0.649000	0.38597	0.864000	0.27926	0.330000	0.23485	0.460000	0.39030	ATT		0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377	
LIPF	8513	broad.mit.edu	37	10	90428417	90428417	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90428417C>T	ENST00000238983.4	+	4	372	c.326C>T	c.(325-327)gCt>gTt	p.A109V	LIPF_ENST00000608620.1_Missense_Mutation_p.A76V|LIPF_ENST00000355843.2_Missense_Mutation_p.A86V|LIPF_ENST00000394375.3_Missense_Mutation_p.A119V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	109					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.A109V(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTGGCAGATGCTGGTTATGAT	0.478																																					p.A109V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326T	10						.						91.0	83.0	86.0					10																	90428417		2203	4300	6503	90418397	SO:0001583	missense	8513	exon4			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.326C>T	10.37:g.90428417C>T	ENSP00000238983:p.Ala109Val		90418397	NM_004190	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632525	0.67015	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.72505	-0.66;-0.66;-0.66	4.71	4.71	0.59529	.	0.000000	0.44097	D	0.000490	D	0.85053	0.5609	M	0.93939	3.475	0.48975	D	0.999738	P;P;D;P;P	0.56746	0.922;0.917;0.977;0.922;0.865	P;B;B;P;B	0.54856	0.762;0.378;0.361;0.762;0.21	D	0.89504	0.3766	10	0.72032	D	0.01	-20.7781	16.5945	0.84792	0.0:1.0:0.0:0.0	.	76;119;119;86;109	Q5VXI8;F5H1P4;B7Z723;Q658L8;P07098	.;.;.;.;LIPG_HUMAN	V	119;109;76	ENSP00000377900:A119V;ENSP00000238983:A109V;ENSP00000348101:A76V	ENSP00000238983:A109V	A	+	2	0	LIPF	90418397	0.999000	0.42202	0.864000	0.33941	0.980000	0.70556	3.772000	0.55325	2.448000	0.82819	0.557000	0.71058	GCT		0.478	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
LIPK	643414	broad.mit.edu	37	10	90490804	90490804	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90490804C>T	ENST00000404190.1	+	3	288	c.288C>T	c.(286-288)aaC>aaT	p.N96N		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	96					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.N96N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		GGATTTGCAACCTGCCCAACA	0.448																																					p.N96N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C288T	10						.						76.0	77.0	77.0					10																	90490804		2046	4239	6285	90480784	SO:0001819	synonymous_variant	643414	exon3				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.288C>T	10.37:g.90490804C>T			90480784	NM_001080518	A7KIH8	Silent	SNP	ENST00000404190.1	37	CCDS44455.1																																																																																				0.448	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222	
STAMBPL1	57559	broad.mit.edu	37	10	90676446	90676446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90676446G>T	ENST00000371926.3	+	8	1871	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	STAMBPL1_ENST00000371927.3_Nonsense_Mutation_p.E305*|STAMBPL1_ENST00000371922.1_Nonsense_Mutation_p.E139*|STAMBPL1_ENST00000371924.1_Nonsense_Mutation_p.E305*	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	305	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.E305*(1)		breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GACACATAATGAATTTACTAT	0.338																																					p.E305X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G913T	10						.						121.0	115.0	117.0					10																	90676446		2203	4300	6503	90666426	SO:0001587	stop_gained	57559	exon8			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.913G>T	10.37:g.90676446G>T	ENSP00000360994:p.Glu305*		90666426	NM_020799	B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Nonsense_Mutation	SNP	ENST00000371926.3	37	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	47	13.655154	0.99755	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.3522	19.209	0.93747	0.0:0.0:1.0:0.0	.	.	.	.	X	305;305;305;139	.	ENSP00000360990:E139X	E	+	1	0	STAMBPL1	90666426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.832000	0.99423	2.885000	0.99019	0.650000	0.86243	GAA		0.338	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799	
ACTA2	59	broad.mit.edu	37	10	90700996	90700996	+	Silent	SNP	G	G	A	rs143771352		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:90700996G>A	ENST00000458208.1	-	6	1080	c.606C>T	c.(604-606)ttC>ttT	p.F202F	ACTA2-AS1_ENST00000596007.1_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Silent_p.F202F|ACTA2_ENST00000480297.1_5'UTR|ACTA2-AS1_ENST00000437930.4_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	202					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.F202F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CAGTAGTAACGAAGGAATAGC	0.547																																					p.F202F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606T	10						.	G	,	0,4406		0,0,2203	114.0	87.0	96.0		606,606	-5.9	0.8	10	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ACTA2	NM_001141945.1,NM_001613.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	202/378,202/378	90700996	2,13004	2203	4300	6503	90690976	SO:0001819	synonymous_variant	59	exon6			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.606C>T	10.37:g.90700996G>A			90690976	NM_001141945	B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	ENST00000458208.1	37	CCDS7392.1																																																																																				0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613	
IFIT2	3433	broad.mit.edu	37	10	91061883	91061883	+	Start_Codon_SNP	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91061883G>T	ENST00000371826.3	+	1	172	c.3G>T	c.(1-3)atG>atT	p.M1I	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	1					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTGCAACCATGAGGTAAATAT	0.468																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	10						.						130.0	132.0	131.0					10																	91061883		1942	4145	6087	91051863	SO:0001582	initiator_codon_variant	3433	exon1			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.3G>T	10.37:g.91061883G>T	ENSP00000360891:p.Met1Ile		91051863	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806009	0.50421	.	.	ENSG00000119922	ENST00000371826	T	0.16196	2.36	4.5	3.61	0.41365	.	2.093560	0.03024	U	0.151179	T	0.23451	0.0567	.	.	.	0.80722	D	1	P	0.46987	0.888	P	0.44732	0.459	T	0.13335	-1.0513	9	0.72032	D	0.01	7.0819	8.6176	0.33842	0.102:0.0:0.898:0.0	.	1	P09913	IFIT2_HUMAN	I	1	ENSP00000360891:M1I	ENSP00000360891:M1I	M	+	3	0	IFIT2	91051863	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.571000	0.45990	1.506000	0.48736	0.650000	0.86243	ATG		0.468	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	Missense_Mutation
IFIT2	3433	broad.mit.edu	37	10	91066223	91066223	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91066223G>T	ENST00000371826.3	+	2	679	c.510G>T	c.(508-510)aaG>aaT	p.K170N	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	170					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.K170N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AGAAGCCAAAGAACCCAGAAT	0.512																																					p.K170N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	10						.						51.0	53.0	52.0					10																	91066223		2011	4207	6218	91056203	SO:0001583	missense	3433	exon2			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.510G>T	10.37:g.91066223G>T	ENSP00000360891:p.Lys170Asn		91056203	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855013	0.17106	.	.	ENSG00000119922	ENST00000371826	T	0.72394	-0.65	4.47	-0.914	0.10497	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.307723	0.31071	U	0.008312	T	0.43010	0.1228	N	0.12443	0.215	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19484	-1.0304	10	0.17369	T	0.5	-2.5362	6.4624	0.21964	0.0758:0.531:0.1756:0.2175	.	170	P09913	IFIT2_HUMAN	N	170	ENSP00000360891:K170N	ENSP00000360891:K170N	K	+	3	2	IFIT2	91056203	0.000000	0.05858	0.001000	0.08648	0.997000	0.91878	-0.960000	0.03849	-0.151000	0.11176	0.655000	0.94253	AAG		0.512	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
IFIT2	3433	broad.mit.edu	37	10	91066537	91066537	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91066537A>G	ENST00000371826.3	+	2	993	c.824A>G	c.(823-825)gAa>gGa	p.E275G	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	275					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.E275G(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGGCTTTAGAATACATACCA	0.418																																					p.E275G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A824G	10						.						126.0	121.0	122.0					10																	91066537		1910	4148	6058	91056517	SO:0001583	missense	3433	exon2			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.824A>G	10.37:g.91066537A>G	ENSP00000360891:p.Glu275Gly		91056517	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902929	0.33628	.	.	ENSG00000119922	ENST00000371826	T	0.62232	0.04	4.58	2.26	0.28386	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.273885	0.34435	U	0.003972	T	0.59266	0.2181	M	0.81802	2.56	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.57670	-0.7771	10	0.72032	D	0.01	-0.4896	6.177	0.20449	0.7108:0.1362:0.153:0.0	.	275	P09913	IFIT2_HUMAN	G	275	ENSP00000360891:E275G	ENSP00000360891:E275G	E	+	2	0	IFIT2	91056517	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.457000	0.21875	0.509000	0.28195	-0.250000	0.11733	GAA		0.418	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
IFIT2	3433	broad.mit.edu	37	10	91066642	91066642	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91066642G>T	ENST00000371826.3	+	2	1098	c.929G>T	c.(928-930)aGa>aTa	p.R310I	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	310					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.R310I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TATGGGAAAAGAAAGTTACTG	0.433																																					p.R310I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929T	10						.						92.0	88.0	89.0					10																	91066642		1879	4106	5985	91056622	SO:0001583	missense	3433	exon2			M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.929G>T	10.37:g.91066642G>T	ENSP00000360891:p.Arg310Ile		91056622	NM_001547	Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758729	0.69763	.	.	ENSG00000119922	ENST00000371826	T	0.16897	2.31	4.48	-0.251	0.13003	Tetratricopeptide-like helical (1);	1.664840	0.04255	U	0.339363	T	0.24967	0.0606	M	0.74258	2.255	0.24698	N	0.993271	P	0.48162	0.906	P	0.44732	0.459	T	0.30031	-0.9992	10	0.66056	D	0.02	-2.4992	5.6444	0.17582	0.2446:0.2576:0.4978:0.0	.	310	P09913	IFIT2_HUMAN	I	310	ENSP00000360891:R310I	ENSP00000360891:R310I	R	+	2	0	IFIT2	91056622	0.002000	0.14202	0.001000	0.08648	0.595000	0.36748	-0.096000	0.11059	-0.034000	0.13713	0.655000	0.94253	AGA		0.433	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547	
IFIT3	3437	broad.mit.edu	37	10	91099046	91099046	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91099046C>A	ENST00000371818.4	+	2	814	c.634C>A	c.(634-636)Ctc>Atc	p.L212I	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.L212I	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	212					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)	p.L212I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CGTCAAGGTTCTCTTGGGCCT	0.453																																					p.L212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634A	10						.						60.0	67.0	64.0					10																	91099046		2203	4300	6503	91089026	SO:0001583	missense	3437	exon2			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.634C>A	10.37:g.91099046C>A	ENSP00000360883:p.Leu212Ile		91089026	NM_001549	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747762	0.49257	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.38722	1.12;1.12	4.48	3.56	0.40772	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.214170	0.37669	N	0.001982	T	0.63236	0.2494	M	0.86953	2.85	0.45822	D	0.998699	D	0.89917	1.0	D	0.74348	0.983	T	0.65899	-0.6056	10	0.59425	D	0.04	-8.4318	7.0964	0.25311	0.1768:0.7281:0.0:0.0951	.	212	O14879	IFIT3_HUMAN	I	212;212;33	ENSP00000360883:L212I;ENSP00000360876:L212I	ENSP00000360876:L212I	L	+	1	0	IFIT3	91089026	0.948000	0.32251	0.998000	0.56505	0.444000	0.32077	0.680000	0.25306	1.455000	0.47813	0.655000	0.94253	CTC		0.453	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549	
IFIT1B	439996	broad.mit.edu	37	10	91143308	91143308	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91143308G>A	ENST00000371809.3	+	2	318	c.238G>A	c.(238-240)Gac>Aac	p.D80N	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	80								p.D80N(1)		endometrium(2)|large_intestine(3)|lung(8)	13						AAAGGCTGAAGACTTAATTCA	0.463																																					p.D80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	10						.						84.0	83.0	83.0					10																	91143308		2203	4300	6503	91133288	SO:0001583	missense	439996	exon2				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.238G>A	10.37:g.91143308G>A	ENSP00000360874:p.Asp80Asn		91133288	NM_001010987	A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	CCDS31242.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642146	0.47153	.	.	ENSG00000204010	ENST00000371809	D	0.94092	-3.35	4.61	2.71	0.32032	Tetratricopeptide-like helical (1);	0.537542	0.19876	N	0.104090	D	0.88633	0.6489	L	0.41824	1.3	0.20764	N	0.99985	B	0.06786	0.001	B	0.17433	0.018	T	0.80478	-0.1365	10	0.44086	T	0.13	.	10.3267	0.43798	0.1498:0.0:0.8502:0.0	.	80	Q5T764	IFT1B_HUMAN	N	80	ENSP00000360874:D80N	ENSP00000360874:D80N	D	+	1	0	IFIT1B	91133288	1.000000	0.71417	0.427000	0.26684	0.132000	0.20833	2.992000	0.49417	2.098000	0.63641	0.557000	0.71058	GAC		0.463	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987	
IFIT1	3434	broad.mit.edu	37	10	91163115	91163115	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91163115G>T	ENST00000371804.3	+	2	1250	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	IFIT1_ENST00000546318.1_Missense_Mutation_p.E330D|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	361					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.E361D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGCTGAAGAGAATTTTCAAA	0.373																																					p.E361D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1083T	10						.						39.0	41.0	40.0					10																	91163115		2202	4300	6502	91153095	SO:0001583	missense	3434	exon2			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1083G>T	10.37:g.91163115G>T	ENSP00000360869:p.Glu361Asp		91153095	NM_001548	B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	0.305	-0.971553	0.02215	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.76448	-1.02;-1.02	5.62	-11.2	0.00127	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.847041	0.10625	N	0.652836	T	0.35335	0.0928	N	0.01493	-0.835	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.34601	-0.9822	10	0.10377	T	0.69	.	3.5123	0.07713	0.2671:0.0929:0.4144:0.2256	.	361;361	Q5T7J1;P09914	.;IFIT1_HUMAN	D	361;330	ENSP00000360869:E361D;ENSP00000441968:E330D	ENSP00000360869:E361D	E	+	3	2	IFIT1	91153095	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.907000	0.00337	-3.120000	0.00239	-2.085000	0.00377	GAG		0.373	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548	
IFIT5	24138	broad.mit.edu	37	10	91177038	91177038	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91177038G>T	ENST00000371795.4	+	2	295	c.82G>T	c.(82-84)Gac>Tac	p.D28Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.D28Y|LIPA_ENST00000371837.1_5'Flank	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	28					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)	p.D28Y(1)		endometrium(1)|large_intestine(4)|lung(4)	9						ACTTAAGGAAGACATTGATCT	0.343																																					p.D28Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82T	10						.						79.0	82.0	81.0					10																	91177038		2203	4300	6503	91167018	SO:0001583	missense	24138	exon2			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.82G>T	10.37:g.91177038G>T	ENSP00000360860:p.Asp28Tyr		91167018	NM_012420	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013475	0.54468	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.55588	0.51;0.51	6.03	5.11	0.69529	.	0.515918	0.22326	N	0.061537	T	0.66086	0.2754	L	0.60957	1.885	0.41032	D	0.985166	D;D	0.76494	0.999;0.999	D;D	0.66602	0.945;0.945	T	0.68743	-0.5328	10	0.66056	D	0.02	-19.6885	11.8208	0.52237	0.0679:0.1228:0.8093:0.0	.	28;28	Q13325;B4DDV1	IFIT5_HUMAN;.	Y	28	ENSP00000360860:D28Y;ENSP00000414042:D28Y	ENSP00000360860:D28Y	D	+	1	0	IFIT5	91167018	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.901000	0.39838	1.527000	0.49086	0.655000	0.94253	GAC		0.343	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420	
SLC16A12	387700	broad.mit.edu	37	10	91192894	91192894	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91192894G>T	ENST00000341233.4	-	8	1778	c.1388C>A	c.(1387-1389)tCt>tAt	p.S463Y	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S493Y	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	463						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S463Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCTTGCCACAGAATAAGCCAC	0.473																																					p.S493Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1478A	10						.						131.0	117.0	121.0					10																	91192894		2203	4300	6503	91182874	SO:0001583	missense	387700	exon8				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1388C>A	10.37:g.91192894G>T	ENSP00000343022:p.Ser463Tyr		91182874	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	G	20.4	3.983398	0.74474	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.25749	1.83;1.78	5.78	5.78	0.91487	.	0.176614	0.40222	N	0.001141	T	0.40645	0.1125	L	0.31294	0.92	0.46061	D	0.998843	D	0.71674	0.998	D	0.66979	0.948	T	0.10965	-1.0607	10	0.52906	T	0.07	.	19.0025	0.92839	0.0:0.0:1.0:0.0	.	463	Q6ZSM3	MOT12_HUMAN	Y	463;493	ENSP00000343022:S463Y;ENSP00000360855:S493Y	ENSP00000343022:S463Y	S	-	2	0	SLC16A12	91182874	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	6.394000	0.73223	2.740000	0.93945	0.313000	0.20887	TCT		0.473	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
SLC16A12	387700	broad.mit.edu	37	10	91193027	91193027	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91193027A>G	ENST00000341233.4	-	8	1645	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	SLC16A12_ENST00000371790.4_Missense_Mutation_p.S449P	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	419						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.S419P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AATATCATTGAAAATCCACAG	0.393																																					p.S449P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1345C	10						.						67.0	68.0	68.0					10																	91193027		2203	4300	6503	91183007	SO:0001583	missense	387700	exon8				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.1255T>C	10.37:g.91193027A>G	ENSP00000343022:p.Ser419Pro		91183007	NM_213606	Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37		.	.	.	.	.	.	.	.	.	.	A	18.12	3.552957	0.65425	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.80909	-1.43;-1.43	5.77	3.35	0.38373	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.284524	0.34932	N	0.003573	T	0.80523	0.4639	L	0.37897	1.145	0.37840	D	0.929039	P	0.49783	0.928	P	0.56434	0.798	T	0.78623	-0.2132	10	0.34782	T	0.22	.	11.9422	0.52907	0.7146:0.2854:0.0:0.0	.	419	Q6ZSM3	MOT12_HUMAN	P	419;449	ENSP00000343022:S419P;ENSP00000360855:S449P	ENSP00000343022:S419P	S	-	1	0	SLC16A12	91183007	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.951000	0.49089	0.412000	0.25729	0.383000	0.25322	TCA		0.393	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606	
KIF20B	9585	broad.mit.edu	37	10	91468936	91468936	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91468936G>A	ENST00000371728.3	+	3	225	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	KIF20B_ENST00000394289.2_Missense_Mutation_p.E54K|KIF20B_ENST00000260753.4_Missense_Mutation_p.E54K|KIF20B_ENST00000416354.1_Missense_Mutation_p.E54K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	54					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E54K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAACAGTTTCGAATCTAAAGA	0.313																																					p.E54K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160A	10						.						45.0	50.0	48.0					10																	91468936		2203	4296	6499	91458916	SO:0001583	missense	9585	exon3			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.160G>A	10.37:g.91468936G>A	ENSP00000360793:p.Glu54Lys		91458916	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.197510	0.79015	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.69040	-0.26;-0.28;-0.37;-0.3;2.24	5.58	3.6	0.41247	Kinesin, motor domain (1);	0.384350	0.22197	N	0.063281	T	0.64713	0.2623	L	0.43152	1.355	0.26329	N	0.977553	D;P	0.55605	0.972;0.873	P;B	0.50440	0.641;0.35	T	0.58674	-0.7595	10	0.10377	T	0.69	-7.778	16.697	0.85338	0.0:0.2422:0.7578:0.0	.	54;54	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	54	ENSP00000260753:E54K;ENSP00000411545:E54K;ENSP00000377830:E54K;ENSP00000360793:E54K;ENSP00000390946:E54K	ENSP00000260753:E54K	E	+	1	0	KIF20B	91458916	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	3.074000	0.50065	1.464000	0.47987	0.655000	0.94253	GAA		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
KIF20B	9585	broad.mit.edu	37	10	91497569	91497569	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91497569G>A	ENST00000371728.3	+	20	3036	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	KIF20B_ENST00000394289.2_Missense_Mutation_p.E991K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E951K|KIF20B_ENST00000416354.1_Missense_Mutation_p.E1021K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	991					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E951K(3)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAATAGACGAACTACGTAC	0.338																																					p.E951K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2851A	10						.						60.0	64.0	63.0					10																	91497569		2203	4299	6502	91487549	SO:0001583	missense	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2971G>A	10.37:g.91497569G>A	ENSP00000360793:p.Glu991Lys		91487549	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.216206	0.39201	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70164	-0.37;-0.38;-0.46;-0.39	5.69	2.47	0.30058	.	0.231808	0.30455	N	0.009582	T	0.48295	0.1492	L	0.40543	1.245	0.32394	N	0.552863	P;P	0.40638	0.462;0.725	B;B	0.30646	0.023;0.118	T	0.59306	-0.7479	10	0.33940	T	0.23	-9.2566	9.3056	0.37874	0.1501:0.1249:0.725:0.0	.	991;951	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	951;1021;991;991	ENSP00000260753:E951K;ENSP00000411545:E1021K;ENSP00000377830:E991K;ENSP00000360793:E991K	ENSP00000260753:E951K	E	+	1	0	KIF20B	91487549	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	1.275000	0.33144	1.398000	0.46701	0.591000	0.81541	GAA		0.338	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
KIF20B	9585	broad.mit.edu	37	10	91497974	91497974	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91497974G>T	ENST00000371728.3	+	20	3441	c.3376G>T	c.(3376-3378)Gaa>Taa	p.E1126*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E1126*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E1086*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E1156*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1126					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E1086*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCAGCTGAAAGAAGAATTGCA	0.343																																					p.E1086X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3256T	10						.						59.0	67.0	64.0					10																	91497974		2201	4296	6497	91487954	SO:0001587	stop_gained	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3376G>T	10.37:g.91497974G>T	ENSP00000360793:p.Glu1126*		91487954	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	38	7.092099	0.98059	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.87	4.0	0.46444	.	0.670490	0.13671	N	0.370874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-1.8222	6.3143	0.21182	0.2082:0.1355:0.6563:0.0	.	.	.	.	X	1086;1156;1126;1126	.	ENSP00000260753:E1086X	E	+	1	0	KIF20B	91487954	0.920000	0.31207	0.508000	0.27688	0.511000	0.34104	1.335000	0.33839	0.801000	0.34066	0.591000	0.81541	GAA		0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
KIF20B	9585	broad.mit.edu	37	10	91498277	91498277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:91498277G>T	ENST00000371728.3	+	20	3744	c.3679G>T	c.(3679-3681)Gaa>Taa	p.E1227*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E1227*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E1187*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E1257*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1227					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E1187*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAAGCTGAAAGAAGAAATCAC	0.299																																					p.E1187X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3559T	10						.						50.0	54.0	53.0					10																	91498277		2133	4267	6400	91488257	SO:0001587	stop_gained	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3679G>T	10.37:g.91498277G>T	ENSP00000360793:p.Glu1227*		91488257	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.614788	0.98390	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.82	3.92	0.45320	.	0.262618	0.27008	N	0.021394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.3286	7.8954	0.29704	0.1392:0.1331:0.7278:0.0	.	.	.	.	X	1187;1257;1227;1227	.	ENSP00000260753:E1187X	E	+	1	0	KIF20B	91488257	1.000000	0.71417	0.997000	0.53966	0.395000	0.30598	2.818000	0.48041	0.762000	0.33152	0.467000	0.42956	GAA		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
HTR7	3363	broad.mit.edu	37	10	92503443	92503443	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:92503443C>T	ENST00000336152.3	-	3	1326	c.1300G>A	c.(1300-1302)Gcc>Acc	p.A434T	HTR7_ENST00000371719.2_Intron|HTR7_ENST00000371721.3_Intron|HTR7_ENST00000277874.6_Intron	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	434					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.A434T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTTGTGCAGGCCCTCCTGCAA	0.393																																					p.A434T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300A	10						.						132.0	113.0	120.0					10																	92503443		2203	4300	6503	92493423	SO:0001583	missense	3363	exon3			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1300G>A	10.37:g.92503443C>T	ENSP00000337949:p.Ala434Thr		92493423	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840826	0.02692	.	.	ENSG00000148680	ENST00000336152	T	0.64803	-0.12	2.53	-0.642	0.11486	.	1.749270	0.03082	N	0.158664	T	0.37652	0.1011	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16630	-1.0396	10	0.11794	T	0.64	.	5.2693	0.15617	0.0:0.5292:0.0:0.4708	.	434	P34969	5HT7R_HUMAN	T	434	ENSP00000337949:A434T	ENSP00000337949:A434T	A	-	1	0	HTR7	92493423	0.000000	0.05858	0.012000	0.15200	0.090000	0.18270	-0.058000	0.11750	-0.145000	0.11294	0.461000	0.40582	GCC		0.393	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
HTR7	3363	broad.mit.edu	37	10	92508832	92508832	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:92508832G>T	ENST00000336152.3	-	2	1085	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	HTR7_ENST00000371719.2_Silent_p.I353I|HTR7_ENST00000371721.3_Silent_p.I353I|HTR7_ENST00000277874.6_Silent_p.I353I	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	353					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.I353I(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AAGTGCCACAGATGAAGGGTC	0.532																																					p.I353I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1059A	10						.						92.0	89.0	90.0					10																	92508832		2203	4300	6503	92498812	SO:0001819	synonymous_variant	3363	exon2			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1059C>A	10.37:g.92508832G>T			92498812	NM_019859	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	CCDS7408.1																																																																																				0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
ANKRD1	27063	broad.mit.edu	37	10	92677531	92677531	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:92677531C>A	ENST00000371697.3	-	5	758	c.510G>T	c.(508-510)gaG>gaT	p.E170D		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	170					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.E170D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCATTAACTTCTCCACAATTG	0.378																																					p.E170D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	10						.						98.0	90.0	93.0					10																	92677531		2203	4300	6503	92667511	SO:0001583	missense	27063	exon5			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.510G>T	10.37:g.92677531C>A	ENSP00000360762:p.Glu170Asp		92667511	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400130	0.62177	.	.	ENSG00000148677	ENST00000371697	T	0.66280	-0.2	5.51	3.64	0.41730	Ankyrin repeat-containing domain (4);	0.143237	0.48286	D	0.000191	T	0.61350	0.2340	L	0.37897	1.145	0.37262	D	0.907042	P	0.42296	0.775	P	0.51297	0.665	T	0.68322	-0.5439	10	0.66056	D	0.02	.	10.0427	0.42169	0.0:0.7449:0.0:0.2551	.	170	Q15327	ANKR1_HUMAN	D	170	ENSP00000360762:E170D	ENSP00000360762:E170D	E	-	3	2	ANKRD1	92667511	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.555000	0.23422	1.456000	0.47831	0.585000	0.79938	GAG		0.378	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
HECTD2	143279	broad.mit.edu	37	10	93244317	93244317	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93244317C>T	ENST00000298068.5	+	9	969	c.875C>T	c.(874-876)tCt>tTt	p.S292F	HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.S296F	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	292					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S292F(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CAATTTATTTCTTTACGCCTG	0.373																																					p.S292F	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	10						.						96.0	97.0	97.0					10																	93244317		2203	4300	6503	93234297	SO:0001583	missense	143279	exon9			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.875C>T	10.37:g.93244317C>T	ENSP00000298068:p.Ser292Phe		93234297	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784175	0.90282	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.38722	1.12;1.13	5.97	5.97	0.96955	.	0.056069	0.64402	D	0.000001	T	0.63248	0.2495	M	0.75264	2.295	0.80722	D	1	P;D	0.57899	0.943;0.981	B;P	0.57371	0.445;0.819	T	0.63440	-0.6637	10	0.59425	D	0.04	.	20.4209	0.99038	0.0:1.0:0.0:0.0	.	296;292	E7ERR3;Q5U5R9	.;HECD2_HUMAN	F	296;18;292	ENSP00000401023:S296F;ENSP00000298068:S292F	ENSP00000298068:S292F	S	+	2	0	HECTD2	93234297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.175000	0.77632	2.823000	0.97156	0.591000	0.81541	TCT		0.373	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
PPP1R3C	5507	broad.mit.edu	37	10	93390258	93390258	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93390258T>A	ENST00000238994.5	-	2	464	c.380A>T	c.(379-381)aAa>aTa	p.K127I		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C									p.K127I(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTCGTGGTGTTTTAAGGCAGA	0.458																																					p.K127I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A380T	10						.						80.0	81.0	81.0					10																	93390258		2203	4300	6503	93380238	SO:0001583	missense	5507	exon2			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.380A>T	10.37:g.93390258T>A	ENSP00000238994:p.Lys127Ile		93380238	NM_005398		Missense_Mutation	SNP	ENST00000238994.5	37	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632243	0.67015	.	.	ENSG00000119938	ENST00000238994;ENST00000500094	T	0.48836	0.8	5.79	4.66	0.58398	.	0.208451	0.49305	D	0.000151	T	0.57755	0.2075	L	0.49640	1.575	0.39541	D	0.968824	D	0.71674	0.998	D	0.65773	0.938	T	0.55192	-0.8179	10	0.25751	T	0.34	-24.2206	11.7107	0.51623	0.0:0.0687:0.0:0.9312	.	127	Q9UQK1	PPR3C_HUMAN	I	127;9	ENSP00000238994:K127I	ENSP00000238994:K127I	K	-	2	0	PPP1R3C	93380238	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	5.913000	0.69957	1.023000	0.39654	0.533000	0.62120	AAA		0.458	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398	
TNKS2	80351	broad.mit.edu	37	10	93588096	93588096	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93588096G>A	ENST00000371627.4	+	9	1416	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	346					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R346Q(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GATGTTACTCGAATCAAAAAA	0.343																																					p.R346Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	10						.						66.0	66.0	66.0					10																	93588096		2203	4300	6503	93578076	SO:0001583	missense	80351	exon9			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1037G>A	10.37:g.93588096G>A	ENSP00000360689:p.Arg346Gln		93578076	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857368	0.71834	.	.	ENSG00000107854	ENST00000371627	T	0.63913	-0.07	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.000000	0.50627	D	0.000107	T	0.50411	0.1614	N	0.25245	0.725	0.46096	D	0.998866	B	0.25351	0.124	B	0.23150	0.044	T	0.41574	-0.9501	10	0.22109	T	0.4	.	19.4011	0.94630	0.0:0.0:1.0:0.0	.	346	Q9H2K2	TNKS2_HUMAN	Q	346	ENSP00000360689:R346Q	ENSP00000360689:R346Q	R	+	2	0	TNKS2	93578076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.480000	0.66820	2.591000	0.87537	0.462000	0.41574	CGA		0.343	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
BTAF1	9044	broad.mit.edu	37	10	93719836	93719836	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93719836A>C	ENST00000265990.6	+	11	1496	c.1188A>C	c.(1186-1188)aaA>aaC	p.K396N	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	396					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K396N(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCTGCTAAAATTACTTACAC	0.393																																					p.K396N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1188C	10						.						170.0	167.0	168.0					10																	93719836		2203	4300	6503	93709816	SO:0001583	missense	9044	exon11			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1188A>C	10.37:g.93719836A>C	ENSP00000265990:p.Lys396Asn		93709816	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777499	0.49786	.	.	ENSG00000095564	ENST00000265990	T	0.65732	-0.17	5.26	1.7	0.24286	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.63843	1.955	0.80722	D	1	P	0.50710	0.938	P	0.44477	0.451	T	0.54846	-0.8232	10	0.42905	T	0.14	-38.2789	8.7225	0.34449	0.6905:0.0:0.3095:0.0	.	396	O14981	BTAF1_HUMAN	N	396	ENSP00000265990:K396N	ENSP00000265990:K396N	K	+	3	2	BTAF1	93709816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.646000	0.37249	0.329000	0.23460	0.477000	0.44152	AAA		0.393	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
BTAF1	9044	broad.mit.edu	37	10	93743960	93743960	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93743960G>T	ENST00000265990.6	+	19	2534	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	742					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E742D(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTTTAGGAGTGTAAAGCTG	0.348																																					p.E742D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2226T	10						.						93.0	89.0	90.0					10																	93743960		2203	4299	6502	93733940	SO:0001583	missense	9044	exon19			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2226G>T	10.37:g.93743960G>T	ENSP00000265990:p.Glu742Asp		93733940	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	5.023	0.189854	0.09547	.	.	ENSG00000095564	ENST00000265990	T	0.65916	-0.18	5.82	-1.07	0.09968	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.105164	0.64402	D	0.000005	T	0.46658	0.1404	L	0.43152	1.355	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.006	T	0.29488	-1.0010	10	0.13470	T	0.59	-13.413	11.0825	0.48068	0.5996:0.0:0.4004:0.0	.	742;742	Q2M1V9;O14981	.;BTAF1_HUMAN	D	742	ENSP00000265990:E742D	ENSP00000265990:E742D	E	+	3	2	BTAF1	93733940	0.750000	0.28316	0.996000	0.52242	0.940000	0.58332	-0.068000	0.11561	-0.084000	0.12595	-0.827000	0.03088	GAG		0.348	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
BTAF1	9044	broad.mit.edu	37	10	93753589	93753589	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93753589G>A	ENST00000265990.6	+	22	3492	c.3184G>A	c.(3184-3186)Gac>Aac	p.D1062N	BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1062					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1062N(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAATACAATCGACATAAATAA	0.313																																					p.D1062N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3184A	10						.						77.0	73.0	75.0					10																	93753589		2203	4300	6503	93743569	SO:0001583	missense	9044	exon22			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3184G>A	10.37:g.93753589G>A	ENSP00000265990:p.Asp1062Asn		93743569	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731806	0.30684	.	.	ENSG00000095564	ENST00000265990	D	0.89875	-2.58	5.27	4.25	0.50352	Armadillo-like helical (1);Armadillo-type fold (1);	0.362006	0.31636	N	0.007315	T	0.73598	0.3607	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.67317	-0.5701	10	0.30078	T	0.28	-7.5088	5.5152	0.16902	0.1917:0.2073:0.6009:0.0	.	1062;1062	Q2M1V9;O14981	.;BTAF1_HUMAN	N	1062	ENSP00000265990:D1062N	ENSP00000265990:D1062N	D	+	1	0	BTAF1	93743569	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	1.647000	0.37260	2.468000	0.83385	0.650000	0.86243	GAC		0.313	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
BTAF1	9044	broad.mit.edu	37	10	93786934	93786934	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:93786934A>G	ENST00000265990.6	+	37	5591	c.5283A>G	c.(5281-5283)gaA>gaG	p.E1761E	BTAF1_ENST00000544642.1_Silent_p.E589E	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1761	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E1761E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAACATTGGAAGAAAAAATAA	0.383																																					p.E1761E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A5283G	10						.						127.0	127.0	127.0					10																	93786934		2203	4300	6503	93776914	SO:0001819	synonymous_variant	9044	exon37			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5283A>G	10.37:g.93786934A>G			93776914	NM_003972	B4E0W6|O43578	Silent	SNP	ENST00000265990.6	37	CCDS7419.1																																																																																				0.383	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
IDE	3416	broad.mit.edu	37	10	94294469	94294469	+	Missense_Mutation	SNP	C	C	A	rs61078556		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94294469C>A	ENST00000265986.6	-	3	413	c.357G>T	c.(355-357)aaG>aaT	p.K119N		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	119					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.K119N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TAGGGTATTTCTTTGTTCCCA	0.353																																					p.K119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G357T	10						.						101.0	99.0	100.0					10																	94294469		2203	4300	6503	94284449	SO:0001583	missense	3416	exon3			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.357G>T	10.37:g.94294469C>A	ENSP00000265986:p.Lys119Asn		94284449	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236051	0.58886	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.20332	2.08;2.08	5.93	4.9	0.64082	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.104023	0.64402	D	0.000004	T	0.29093	0.0723	M	0.73430	2.235	0.80722	D	1	B	0.26635	0.155	B	0.33521	0.165	T	0.07309	-1.0779	10	0.62326	D	0.03	-9.0523	10.3723	0.44062	0.0:0.8218:0.0:0.1782	.	119	P14735	IDE_HUMAN	N	119;105	ENSP00000265986:K119N;ENSP00000408850:K105N	ENSP00000265986:K119N	K	-	3	2	IDE	94284449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.058000	0.57463	1.253000	0.44018	0.655000	0.94253	AAG		0.353	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
IDE	3416	broad.mit.edu	37	10	94297213	94297213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94297213G>A	ENST00000265986.6	-	2	249	c.193C>T	c.(193-195)Cga>Tga	p.R65*		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	65					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.R65*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TCTAGCCCTCGATATTCTCGC	0.408																																					p.R65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C193T	10						.						219.0	194.0	202.0					10																	94297213		2203	4300	6503	94287193	SO:0001587	stop_gained	3416	exon2			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.193C>T	10.37:g.94297213G>A	ENSP00000265986:p.Arg65*		94287193	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Nonsense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893588	0.91889	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	.	.	.	5.58	3.66	0.41972	.	0.121362	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0843	8.6772	0.34187	0.0695:0.0:0.6652:0.2653	.	.	.	.	X	65;51	.	ENSP00000265986:R65X	R	-	1	2	IDE	94287193	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.534000	0.45676	1.355000	0.45865	0.655000	0.94253	CGA		0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
KIF11	3832	broad.mit.edu	37	10	94368819	94368819	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94368819T>A	ENST00000260731.3	+	5	520	c.430T>A	c.(430-432)Ttt>Att	p.F144I		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	144	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.		F -> L (in MCLMR). {ECO:0000269|PubMed:22284827}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.F144I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCATCAAATTTTTGAGAAACT	0.338																																					p.F144I	Colon(47;212 1003 2764 4062 8431)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T430A	10						.						65.0	68.0	67.0					10																	94368819		2202	4298	6500	94358799	SO:0001583	missense	3832	exon5			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.430T>A	10.37:g.94368819T>A	ENSP00000260731:p.Phe144Ile		94358799	NM_004523	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	T	32	5.182154	0.94885	.	.	ENSG00000138160	ENST00000260731	D	0.84370	-1.84	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95510	0.8585	10	0.72032	D	0.01	.	15.8422	0.78857	0.0:0.0:0.0:1.0	.	144	P52732	KIF11_HUMAN	I	144	ENSP00000260731:F144I	ENSP00000260731:F144I	F	+	1	0	KIF11	94358799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.820000	0.86633	2.323000	0.78572	0.528000	0.53228	TTT		0.338	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	
HHEX	3087	broad.mit.edu	37	10	94454504	94454504	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94454504A>C	ENST00000282728.5	+	4	2591	c.792A>C	c.(790-792)aaA>aaC	p.K264N	HHEX_ENST00000472590.2_Missense_Mutation_p.K92N|HHEX_ENST00000492654.2_Missense_Mutation_p.K92N	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	264					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|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)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K264N(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGGGCGATAAAAGCTATTTTA	0.428																																					p.K264N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A792C	10						.						67.0	67.0	67.0					10																	94454504		2203	4300	6503	94444484	SO:0001583	missense	3087	exon4			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.792A>C	10.37:g.94454504A>C	ENSP00000282728:p.Lys264Asn		94444484	NM_002729	B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914337	0.72983	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91521	-2.86;-1.82;-1.82	5.44	4.3	0.51218	.	0.055330	0.64402	D	0.000001	D	0.87884	0.6290	L	0.27053	0.805	0.39681	D	0.970906	D	0.58620	0.983	P	0.53401	0.725	D	0.87378	0.2355	10	0.51188	T	0.08	-6.3975	9.2257	0.37405	0.8552:0.0:0.1448:0.0	.	264	Q03014	HHEX_HUMAN	N	264;92;92	ENSP00000282728:K264N;ENSP00000450017:K92N;ENSP00000447953:K92N	ENSP00000282728:K264N	K	+	3	2	HHEX	94444484	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.231000	0.43009	1.080000	0.41073	0.533000	0.62120	AAA		0.428	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2		
CYP26A1	1592	broad.mit.edu	37	10	94837058	94837058	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:94837058C>A	ENST00000224356.4	+	7	1536	c.1491C>A	c.(1489-1491)atC>atA	p.I497I	CYP26A1_ENST00000371531.1_Silent_p.I428I|CYP26A1_ENST00000394139.1_Silent_p.I428I	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	497					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.I428I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ATGGGGAAATCTGATGAGCTT	0.388																																					p.I428I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1284A	10						.						33.0	35.0	34.0					10																	94837058		2173	4289	6462	94827048	SO:0001819	synonymous_variant	1592	exon7			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1491C>A	10.37:g.94837058C>A			94827048	NM_057157	B3KNI4|Q5VXH9|Q5VXI0	Silent	SNP	ENST00000224356.4	37	CCDS7426.1																																																																																				0.388	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3		
MYOF	26509	broad.mit.edu	37	10	95095718	95095718	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95095718G>A	ENST00000359263.4	-	41	4522	c.4523C>T	c.(4522-4524)tCg>tTg	p.S1508L	MYOF_ENST00000371502.4_Missense_Mutation_p.S1527L|MYOF_ENST00000371501.4_Missense_Mutation_p.S1508L|MYOF_ENST00000358334.5_Missense_Mutation_p.S1495L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1508					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.S1508L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTTCATCCGACTTGCCTCG	0.403																																					p.S1495L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4484T	10						.						214.0	196.0	202.0					10																	95095718		1894	4112	6006	95085708	SO:0001583	missense	26509	exon40			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4523C>T	10.37:g.95095718G>A	ENSP00000352208:p.Ser1508Leu		95085708	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181987	0.38511	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.91	5.91	0.95273	.	0.349620	0.31673	N	0.007259	T	0.76586	0.4008	L	0.38953	1.18	0.39632	D	0.970183	B;P	0.37612	0.056;0.602	B;B	0.27796	0.04;0.083	T	0.79257	-0.1878	10	0.66056	D	0.02	-7.7564	20.2946	0.98546	0.0:0.0:1.0:0.0	.	1495;1508	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1495;1508;1508;1527	ENSP00000351094:S1495L;ENSP00000352208:S1508L;ENSP00000360556:S1508L;ENSP00000360557:S1527L	ENSP00000351094:S1495L	S	-	2	0	MYOF	95085708	0.993000	0.37304	0.991000	0.47740	0.082000	0.17680	2.826000	0.48104	2.804000	0.96469	0.462000	0.41574	TCG		0.403	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
MYOF	26509	broad.mit.edu	37	10	95119674	95119674	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95119674C>A	ENST00000359263.4	-	29	3035	c.3036G>T	c.(3034-3036)gaG>gaT	p.E1012D	MYOF_ENST00000371502.4_Missense_Mutation_p.E1012D|MYOF_ENST00000371501.4_Missense_Mutation_p.E1012D|MYOF_ENST00000358334.5_Missense_Mutation_p.E999D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1012					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.E1012D(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTACATTTTCTCTGCTGCAA	0.483																																					p.E999D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2997T	10						.						198.0	188.0	191.0					10																	95119674		1948	4153	6101	95109664	SO:0001583	missense	26509	exon28			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3036G>T	10.37:g.95119674C>A	ENSP00000352208:p.Glu1012Asp		95109664	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334365	0.81801	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.85258	-1.96;-1.95;-1.95;-1.96	5.36	3.38	0.38709	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.91616	0.7351	M	0.86268	2.805	0.80722	D	1	D;D	0.62365	0.991;0.987	D;D	0.77004	0.989;0.979	D	0.91061	0.4885	10	0.87932	D	0	-26.9108	9.405	0.38455	0.0:0.7698:0.0:0.2302	.	999;1012	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	D	999;1012;1012;1012	ENSP00000351094:E999D;ENSP00000352208:E1012D;ENSP00000360556:E1012D;ENSP00000360557:E1012D	ENSP00000351094:E999D	E	-	3	2	MYOF	95109664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.613000	0.36900	0.726000	0.32339	0.561000	0.74099	GAG		0.483	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
CEP55	55165	broad.mit.edu	37	10	95262902	95262902	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95262902G>T	ENST00000371485.3	+	3	520	c.216G>T	c.(214-216)aaG>aaT	p.K72N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	72					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.K72N(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AGAAGGAGAAGAATGCTTATC	0.393																																					p.K72N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G216T	10						.						90.0	84.0	86.0					10																	95262902		2203	4300	6503	95252892	SO:0001583	missense	55165	exon3			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.216G>T	10.37:g.95262902G>T	ENSP00000360540:p.Lys72Asn		95252892	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277867	0.59758	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.21191	2.02	5.28	2.43	0.29744	.	0.050963	0.85682	D	0.000000	T	0.37865	0.1019	M	0.64997	1.995	0.39687	D	0.970994	D	0.89917	1.0	D	0.83275	0.996	T	0.10291	-1.0636	10	0.56958	D	0.05	-21.9216	7.5283	0.27668	0.3901:0.0:0.6099:0.0	.	72	Q53EZ4	CEP55_HUMAN	N	72	ENSP00000360540:K72N	ENSP00000351102:K72N	K	+	3	2	CEP55	95252892	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	0.931000	0.28871	0.316000	0.23135	0.591000	0.81541	AAG		0.393	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
CEP55	55165	broad.mit.edu	37	10	95279477	95279477	+	Silent	SNP	C	C	T	rs370915787		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95279477C>T	ENST00000371485.3	+	8	1408	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	CEP55_ENST00000496302.1_3'UTR	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	368	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)		p.L368L(1)		kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGAAAAACTCGACCGTCAAC	0.413																																					p.L368L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1104T	10						.	C	,	1,4405	2.1+/-5.4	0,1,2202	115.0	100.0	105.0		1104,1104	2.1	1.0	10		105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CEP55	NM_001127182.1,NM_018131.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	368/465,368/465	95279477	1,13005	2203	4300	6503	95269467	SO:0001819	synonymous_variant	55165	exon8			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1104C>T	10.37:g.95279477C>T			95269467	NM_018131	B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Silent	SNP	ENST00000371485.3	37	CCDS7428.1																																																																																				0.413	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131	
PDE6C	5146	broad.mit.edu	37	10	95399866	95399866	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95399866G>A	ENST00000371447.3	+	12	1660	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	508					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E508K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAACTGTACGAATTCCGCTT	0.423																																					p.E508K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1522A	10						.						130.0	113.0	119.0					10																	95399866		2203	4300	6503	95389856	SO:0001583	missense	5146	exon12			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1522G>A	10.37:g.95399866G>A	ENSP00000360502:p.Glu508Lys		95389856	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363956	0.41902	.	.	ENSG00000095464	ENST00000371447	T	0.77620	-1.11	4.99	4.99	0.66335	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.337819	0.33691	N	0.004643	T	0.79598	0.4473	M	0.74389	2.26	0.53688	D	0.999977	D	0.58970	0.984	B	0.44044	0.439	T	0.80226	-0.1470	10	0.33141	T	0.24	.	18.4657	0.90753	0.0:0.0:1.0:0.0	.	508	P51160	PDE6C_HUMAN	K	508	ENSP00000360502:E508K	ENSP00000360502:E508K	E	+	1	0	PDE6C	95389856	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	3.339000	0.52135	2.595000	0.87683	0.563000	0.77884	GAA		0.423	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
PDE6C	5146	broad.mit.edu	37	10	95399952	95399952	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95399952G>T	ENST00000371447.3	+	12	1746	c.1608G>T	c.(1606-1608)gaG>gaT	p.E536D		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	536					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E536D(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	ATGTGGTGGAGAAATTCAAAG	0.398																																					p.E536D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1608T	10						.						101.0	103.0	102.0					10																	95399952		2203	4300	6503	95389942	SO:0001583	missense	5146	exon12			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1608G>T	10.37:g.95399952G>T	ENSP00000360502:p.Glu536Asp		95389942	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	8.816	0.936419	0.18206	.	.	ENSG00000095464	ENST00000371447	T	0.77098	-1.07	4.99	2.98	0.34508	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.097400	0.64402	D	0.000001	T	0.58878	0.2153	L	0.34521	1.04	0.45704	D	0.998617	B	0.26318	0.146	B	0.21708	0.036	T	0.49051	-0.8979	10	0.18710	T	0.47	.	2.9809	0.05953	0.2982:0.2369:0.4648:0.0	.	536	P51160	PDE6C_HUMAN	D	536	ENSP00000360502:E536D	ENSP00000360502:E536D	E	+	3	2	PDE6C	95389942	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.559000	0.36320	1.325000	0.45301	0.563000	0.77884	GAG		0.398	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
FRA10AC1	118924	broad.mit.edu	37	10	95451832	95451832	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95451832C>A	ENST00000359204.4	-	7	596	c.399G>T	c.(397-399)aaG>aaT	p.K133N	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K133N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K133N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K133N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	133	Lys-rich.					nucleus (GO:0005634)		p.K133N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CATAGTATTTCTTAGCAAGTC	0.299																																					p.K133N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G399T	10						.						39.0	43.0	42.0					10																	95451832		2188	4274	6462	95441822	SO:0001583	missense	118924	exon7			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.399G>T	10.37:g.95451832C>A	ENSP00000360488:p.Lys133Asn		95441822	NM_145246	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616941	0.66672	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.28666	1.61;1.64;1.6;1.61	5.49	3.65	0.41850	.	0.088857	0.85682	D	0.000000	T	0.55417	0.1919	M	0.89968	3.075	0.53688	D	0.999977	D;D	0.54207	0.962;0.965	P;P	0.57620	0.558;0.824	T	0.62900	-0.6756	10	0.72032	D	0.01	-25.3316	11.5829	0.50902	0.0:0.8561:0.0:0.1439	.	133;133	Q70Z53-2;Q70Z53	.;F10C1_HUMAN	N	133	ENSP00000360488:K133N;ENSP00000438405:K133N;ENSP00000360484:K133N;ENSP00000377660:K133N	ENSP00000360488:K133N	K	-	3	2	FRA10AC1	95441822	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.386000	0.44380	0.684000	0.31448	0.585000	0.79938	AAG		0.299	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	
FRA10AC1	118924	broad.mit.edu	37	10	95452437	95452437	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95452437G>T	ENST00000359204.4	-	6	543	c.346C>A	c.(346-348)Cta>Ata	p.L116I	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L116I|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L116I|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L116I	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	116						nucleus (GO:0005634)		p.L116I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCATTCCATAGGAATCTATGA	0.363																																					p.L116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C346A	10						.						170.0	142.0	151.0					10																	95452437		2203	4300	6503	95442427	SO:0001583	missense	118924	exon6			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.346C>A	10.37:g.95452437G>T	ENSP00000360488:p.Leu116Ile		95442427	NM_145246	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512193	0.64522	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.28069	1.63;1.79;1.7;1.74	5.26	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.28192	0.835	0.54753	D	0.999986	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.71656	0.933;0.933;0.974	T	0.09773	-1.0659	10	0.27082	T	0.32	-19.0203	13.6926	0.62556	0.0744:0.0:0.9256:0.0	.	116;116;116	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	I	116	ENSP00000360488:L116I;ENSP00000438405:L116I;ENSP00000360484:L116I;ENSP00000377660:L116I	ENSP00000360488:L116I	L	-	1	2	FRA10AC1	95442427	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.402000	0.59722	1.223000	0.43536	0.585000	0.79938	CTA		0.363	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246	
LGI1	9211	broad.mit.edu	37	10	95557484	95557484	+	Missense_Mutation	SNP	G	G	A	rs543647504		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:95557484G>A	ENST00000371418.4	+	8	1858	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	LGI1_ENST00000542308.1_Missense_Mutation_p.R485H|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	533					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.R533H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTAATAAGCGTAATTTTCTT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0				p.R533H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598A	10						.						70.0	72.0	71.0					10																	95557484		2203	4298	6501	95547474	SO:0001583	missense	9211	exon8			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1598G>A	10.37:g.95557484G>A	ENSP00000360472:p.Arg533His		95547474	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060609	0.36373	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.81163	-1.46;-1.46	5.65	4.68	0.58851	.	0.118960	0.64402	D	0.000007	T	0.81640	0.4865	M	0.77820	2.39	0.58432	D	0.999996	B;B	0.20671	0.002;0.047	B;B	0.30495	0.004;0.116	T	0.80299	-0.1441	10	0.66056	D	0.02	-8.3878	12.548	0.56212	0.1258:0.0:0.8742:0.0	.	485;533	O95970-3;O95970	.;LGI1_HUMAN	H	485;533	ENSP00000440763:R485H;ENSP00000360472:R533H	ENSP00000360472:R533H	R	+	2	0	LGI1	95547474	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.141000	0.64814	2.941000	0.99782	0.655000	0.94253	CGT		0.368	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
PLCE1	51196	broad.mit.edu	37	10	96064313	96064313	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96064313C>A	ENST00000371380.3	+	24	5768	c.5533C>A	c.(5533-5535)Ctg>Atg	p.L1845M	PLCE1_ENST00000371375.1_Missense_Mutation_p.L1537M|PLCE1_ENST00000371385.3_Missense_Mutation_p.L1537M|PLCE1_ENST00000260766.3_Missense_Mutation_p.L1845M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1845	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L1845M(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCTCCAGTTCTGTGGGACAA	0.413																																					p.L1537M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4609A	10						.						201.0	182.0	188.0					10																	96064313		1897	4116	6013	96054303	SO:0001583	missense	51196	exon24				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5533C>A	10.37:g.96064313C>A	ENSP00000360431:p.Leu1845Met		96054303	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186200	0.57909	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.8	4.9	0.64082	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000001	T	0.59756	0.2217	N	0.21194	0.64	0.45822	D	0.998698	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77004	0.98;0.95;0.989	T	0.55724	-0.8096	10	0.21540	T	0.41	.	11.6634	0.51361	0.0:0.8564:0.0:0.1436	.	1829;1537;1845	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	M	1845;1845;1537;1537	ENSP00000260766:L1845M;ENSP00000360431:L1845M;ENSP00000360438:L1537M;ENSP00000360426:L1537M	ENSP00000260766:L1845M	L	+	1	2	PLCE1	96054303	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.732000	0.38146	1.475000	0.48197	-0.258000	0.10820	CTG		0.413	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
PLCE1	51196	broad.mit.edu	37	10	96064395	96064395	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96064395C>A	ENST00000371380.3	+	24	5850	c.5615C>A	c.(5614-5616)tCt>tAt	p.S1872Y	PLCE1_ENST00000371375.1_Missense_Mutation_p.S1564Y|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1564Y|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1872Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1872	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.S1872Y(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTCTATTCTTTAACTGTA	0.438																																					p.S1564Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4691A	10						.						89.0	82.0	84.0					10																	96064395		1860	4100	5960	96054385	SO:0001583	missense	51196	exon24				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5615C>A	10.37:g.96064395C>A	ENSP00000360431:p.Ser1872Tyr		96054385	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110082	0.77210	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28255	1.62;1.62;1.63;1.63	5.39	5.39	0.77823	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.057945	0.64402	D	0.000001	T	0.53449	0.1797	M	0.70108	2.13	0.45822	D	0.998691	D;D;D	0.58970	0.966;0.957;0.984	P;P;P	0.59761	0.848;0.792;0.863	T	0.56565	-0.7958	10	0.72032	D	0.01	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	1856;1564;1872	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Y	1872;1872;1564;1564	ENSP00000260766:S1872Y;ENSP00000360431:S1872Y;ENSP00000360438:S1564Y;ENSP00000360426:S1564Y	ENSP00000260766:S1872Y	S	+	2	0	PLCE1	96054385	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.839000	0.69395	2.521000	0.84997	0.561000	0.74099	TCT		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
NOC3L	64318	broad.mit.edu	37	10	96109974	96109974	+	Missense_Mutation	SNP	C	C	T	rs142493625		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96109974C>T	ENST00000371361.3	-	9	1124	c.1024G>A	c.(1024-1026)Gct>Act	p.A342T	NOC3L_ENST00000371350.1_Missense_Mutation_p.A342T|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Missense_Mutation_p.A80T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	342					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A342T(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTCTTCACAGCGACTTCTGCC	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18872	0.0		0.0	False		,,,				2504	0.0				p.A342T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	10						.	C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	282.0	255.0	264.0		1024	5.8	1.0	10	dbSNP_134	264	0,8600		0,0,4300	no	missense	NOC3L	NM_022451.9	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	342/801	96109974	3,13003	2203	4300	6503	96099964	SO:0001583	missense	64318	exon9			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1024G>A	10.37:g.96109974C>T	ENSP00000360412:p.Ala342Thr		96099964	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.882502	0.97062	6.81E-4	0.0	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.72942	-0.7;1.29;1.29	5.79	5.79	0.91817	Armadillo-like helical (1);	0.097026	0.64402	D	0.000001	D	0.87489	0.6190	M	0.89095	3.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.88841	0.3312	10	0.87932	D	0	-4.3644	20.0987	0.97860	0.0:1.0:0.0:0.0	.	342	Q8WTT2	NOC3L_HUMAN	T	80;342;342	ENSP00000437838:A80T;ENSP00000360412:A342T;ENSP00000360401:A342T	ENSP00000360401:A342T	A	-	1	0	NOC3L	96099964	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.608000	0.61141	2.771000	0.95319	0.644000	0.83932	GCT		0.388	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96112665	96112665	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96112665T>G	ENST00000371361.3	-	7	946	c.846A>C	c.(844-846)gaA>gaC	p.E282D	NOC3L_ENST00000371350.1_Missense_Mutation_p.E282D|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Missense_Mutation_p.E20D	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	282					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E282D(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TAGTAGATTTTTCTGCTTCTG	0.323																																					p.E282D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A846C	10						.						75.0	78.0	77.0					10																	96112665		2203	4300	6503	96102655	SO:0001583	missense	64318	exon7			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.846A>C	10.37:g.96112665T>G	ENSP00000360412:p.Glu282Asp		96102655	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679455	0.68042	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.21191	2.02;2.18;2.18	4.88	1.25	0.21368	Nucleolar complex-associated (1);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.74647	2.275	0.40396	D	0.979592	D	0.89917	1.0	D	0.87578	0.998	T	0.12218	-1.0556	10	0.51188	T	0.08	-3.5886	8.5986	0.33732	0.0:0.2222:0.0:0.7778	.	282	Q8WTT2	NOC3L_HUMAN	D	20;282;282	ENSP00000437838:E20D;ENSP00000360412:E282D;ENSP00000360401:E282D	ENSP00000360401:E282D	E	-	3	2	NOC3L	96102655	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	1.981000	0.40628	-0.034000	0.13713	0.477000	0.44152	GAA		0.323	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96112799	96112799	+	Nonsense_Mutation	SNP	C	C	A	rs150224263		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96112799C>A	ENST00000371361.3	-	7	812	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	NOC3L_ENST00000371350.1_Nonsense_Mutation_p.E238*|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_5'Flank	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	238					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E238*(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GAACGTAATTCTTTCAATTTT	0.348																																					p.E238X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G712T	10						.						73.0	78.0	76.0					10																	96112799		2203	4300	6503	96102789	SO:0001587	stop_gained	64318	exon7			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.712G>T	10.37:g.96112799C>A	ENSP00000360412:p.Glu238*		96102789	NM_022451	Q9H5M6|Q9H9D8	Nonsense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	39	7.432390	0.98279	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-7.8002	18.5161	0.90936	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000360401:E238X	E	-	1	0	NOC3L	96102789	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.359000	0.80004	0.591000	0.81541	GAA		0.348	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96114789	96114789	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96114789C>A	ENST00000371361.3	-	6	727	c.627G>T	c.(625-627)aaG>aaT	p.K209N	NOC3L_ENST00000371350.1_Missense_Mutation_p.K209N|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_5'Flank	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	209					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.K209N(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CCTGTAATTTCTTCTTTCTCT	0.353																																					p.K209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G627T	10						.						181.0	183.0	182.0					10																	96114789		2202	4298	6500	96104779	SO:0001583	missense	64318	exon6			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.627G>T	10.37:g.96114789C>A	ENSP00000360412:p.Lys209Asn		96104779	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777307	0.31411	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12147	2.72;2.71	5.86	2.4	0.29515	.	0.753413	0.13205	N	0.405624	T	0.08403	0.0209	N	0.19112	0.55	0.35928	D	0.83229	B	0.22604	0.072	B	0.21546	0.035	T	0.23511	-1.0186	10	0.35671	T	0.21	-6.8069	6.0666	0.19866	0.0:0.5471:0.1213:0.3316	.	209	Q8WTT2	NOC3L_HUMAN	N	209	ENSP00000360412:K209N;ENSP00000360401:K209N	ENSP00000360401:K209N	K	-	3	2	NOC3L	96104779	0.517000	0.26226	0.999000	0.59377	0.939000	0.58152	0.283000	0.18846	0.173000	0.19788	0.650000	0.86243	AAG		0.353	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
NOC3L	64318	broad.mit.edu	37	10	96117871	96117871	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96117871C>A	ENST00000371361.3	-	3	419	c.319G>T	c.(319-321)Gta>Tta	p.V107L	NOC3L_ENST00000371350.1_Missense_Mutation_p.V107L|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	107					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.V107L(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AGAAAAGATACTCTTTGTCCT	0.328																																					p.V107L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319T	10						.						133.0	128.0	130.0					10																	96117871		2203	4300	6503	96107861	SO:0001583	missense	64318	exon3			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.319G>T	10.37:g.96117871C>A	ENSP00000360412:p.Val107Leu		96107861	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411045	0.42817	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.10960	2.82;2.82	5.7	2.21	0.28008	.	0.213327	0.47455	D	0.000235	T	0.05090	0.0136	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.39099	-0.9630	10	0.27785	T	0.31	-14.1443	9.8624	0.41123	0.0:0.6577:0.2455:0.0968	.	107	Q8WTT2	NOC3L_HUMAN	L	107	ENSP00000360412:V107L;ENSP00000360401:V107L	ENSP00000360401:V107L	V	-	1	0	NOC3L	96107861	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.043000	0.41231	1.404000	0.46819	-0.156000	0.13503	GTA		0.328	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
HELLS	3070	broad.mit.edu	37	10	96336549	96336549	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96336549G>A	ENST00000348459.5	+	10	1124	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	HELLS_ENST00000394045.1_Missense_Mutation_p.R340Q|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394044.1_Intron|HELLS_ENST00000371332.4_Missense_Mutation_p.R340Q	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.R340Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ATGAGAGACCGAAATGCGTTA	0.358																																					p.R340Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019A	10						.						133.0	122.0	126.0					10																	96336549		2203	4300	6503	96326539	SO:0001583	missense	3070	exon10			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1019G>A	10.37:g.96336549G>A	ENSP00000239027:p.Arg340Gln		96326539	NM_018063		Missense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225940	0.58668	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332	D;D;D	0.93366	-3.21;-3.21;-3.21	4.91	4.01	0.46588	DEAD-like helicase (2);SNF2-related (1);	0.053592	0.64402	N	0.000001	D	0.86213	0.5879	L	0.33792	1.035	0.80722	D	1	B;B;P;B	0.44429	0.005;0.014;0.835;0.051	B;B;B;B	0.31390	0.02;0.025;0.129;0.058	D	0.84690	0.0722	10	0.42905	T	0.14	-2.3548	11.9753	0.53087	0.0847:0.0:0.9153:0.0	.	324;340;340;340	Q9NRZ9-2;Q6I7N8;Q9NRZ9-5;Q9NRZ9	.;.;.;HELLS_HUMAN	Q	340	ENSP00000239027:R340Q;ENSP00000377609:R340Q;ENSP00000360383:R340Q	ENSP00000239027:R340Q	R	+	2	0	HELLS	96326539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.303000	0.72794	1.047000	0.40274	0.655000	0.94253	CGA		0.358	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
CYP2C18	1562	broad.mit.edu	37	10	96466569	96466569	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96466569A>G	ENST00000285979.6	+	5	870	c.671A>G	c.(670-672)gAt>gGt	p.D224G	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	224					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.D224G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	GCTCTCATCGATTATCTCCCA	0.308																																					p.D224G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A671G	10						.						40.0	42.0	41.0					10																	96466569		2202	4300	6502	96456559	SO:0001583	missense	1562	exon5			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.671A>G	10.37:g.96466569A>G	ENSP00000285979:p.Asp224Gly		96456559	NM_000772	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	a	12.89	2.072985	0.36566	.	.	ENSG00000108242	ENST00000285979	T	0.12255	2.7	3.8	2.65	0.31530	.	0.394239	0.24445	U	0.038463	T	0.12135	0.0295	L	0.48877	1.53	0.09310	N	0.999998	B	0.10296	0.003	B	0.17722	0.019	T	0.19484	-1.0304	10	0.49607	T	0.09	.	7.459	0.27283	0.8923:0.0:0.1077:0.0	.	224	P33260	CP2CI_HUMAN	G	224	ENSP00000285979:D224G	ENSP00000285979:D224G	D	+	2	0	CYP2C18	96456559	0.398000	0.25279	0.002000	0.10522	0.694000	0.40290	6.006000	0.70724	0.626000	0.30322	0.255000	0.18592	GAT		0.308	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
CYP2C9	1559	broad.mit.edu	37	10	96707608	96707608	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96707608A>C	ENST00000260682.6	+	4	566	c.554A>C	c.(553-555)aAa>aCa	p.K185T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	185					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.K185T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTTCCATAAACGTTTTGAT	0.378																																					p.K185T	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A554C	10						.						124.0	123.0	123.0					10																	96707608		2203	4300	6503	96697598	SO:0001583	missense	1559	exon4			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.554A>C	10.37:g.96707608A>C	ENSP00000260682:p.Lys185Thr		96697598	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330283	0.41297	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69561	-0.41	3.55	3.55	0.40652	.	0.381500	0.22217	U	0.063001	T	0.55878	0.1948	L	0.41356	1.27	0.28349	N	0.920987	B;B	0.15473	0.013;0.013	B;B	0.15484	0.013;0.013	T	0.56238	-0.8012	10	0.62326	D	0.03	.	10.3329	0.43833	1.0:0.0:0.0:0.0	.	185;185	Q5VX92;P11712	.;CP2C9_HUMAN	T	185	ENSP00000260682:K185T	ENSP00000260682:K185T	K	+	2	0	CYP2C9	96697598	0.528000	0.26314	0.747000	0.31113	0.890000	0.51754	5.844000	0.69430	1.590000	0.49995	0.402000	0.26972	AAA		0.378	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
CYP2C9	1559	broad.mit.edu	37	10	96748609	96748609	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96748609C>T	ENST00000260682.6	+	9	1309	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	433					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.R433W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCAGGAAAACGGATTTGTGT	0.438																																					p.R433W	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1297T	10						.						134.0	123.0	127.0					10																	96748609		2203	4300	6503	96738599	SO:0001583	missense	1559	exon9			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1297C>T	10.37:g.96748609C>T	ENSP00000260682:p.Arg433Trp		96738599	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	13.02	2.111201	0.37242	.	.	ENSG00000138109	ENST00000260682	D	0.84873	-1.91	3.42	1.48	0.22813	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000004	D	0.93354	0.7881	H	0.97103	3.94	0.38906	D	0.957435	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	D	0.91946	0.5567	10	0.87932	D	0	.	7.7174	0.28712	0.0:0.7755:0.0:0.2245	.	433;433	Q5VX92;P11712	.;CP2C9_HUMAN	W	433	ENSP00000260682:R433W	ENSP00000260682:R433W	R	+	1	2	CYP2C9	96738599	1.000000	0.71417	0.783000	0.31826	0.481000	0.33189	1.239000	0.32719	0.254000	0.21573	-0.397000	0.06425	CGG		0.438	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
CYP2C9	1559	broad.mit.edu	37	10	96748674	96748674	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96748674G>T	ENST00000260682.6	+	9	1374	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	454					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)	p.Q454H(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATTTTACAGAACTTTAACC	0.473																																					p.Q454H	Ovarian(54;1266 1406 16072 35076)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1362T	10						.						153.0	146.0	148.0					10																	96748674		2203	4300	6503	96738664	SO:0001583	missense	1559	exon9			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1362G>T	10.37:g.96748674G>T	ENSP00000260682:p.Gln454His		96738664	NM_000771	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895691	0.33442	.	.	ENSG00000138109	ENST00000260682	T	0.72167	-0.63	3.42	1.52	0.23074	.	0.082934	0.49916	U	0.000123	T	0.77922	0.4203	M	0.63843	1.955	0.36837	D	0.887193	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78267	-0.2270	10	0.87932	D	0	.	7.1037	0.25353	0.236:0.0:0.764:0.0	.	454;454	Q5VX92;P11712	.;CP2C9_HUMAN	H	454	ENSP00000260682:Q454H	ENSP00000260682:Q454H	Q	+	3	2	CYP2C9	96738664	1.000000	0.71417	0.917000	0.36280	0.120000	0.20174	2.079000	0.41577	0.273000	0.22049	0.453000	0.30009	CAG		0.473	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771	
CYP2C8	1558	broad.mit.edu	37	10	96818118	96818118	+	Missense_Mutation	SNP	C	C	T	rs551515028		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96818118C>T	ENST00000371270.3	-	5	887	c.793G>A	c.(793-795)Gat>Aat	p.D265N	CYP2C8_ENST00000539050.1_Missense_Mutation_p.D179N|CYP2C8_ENST00000535898.1_Missense_Mutation_p.D163N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	265					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.D265N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AGGAAGCAATCGATAAAGTCC	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17713	0.0		0.0	False		,,,				2504	0.0				p.D265N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G793A	10						.						175.0	155.0	162.0					10																	96818118		2203	4300	6503	96808108	SO:0001583	missense	1558	exon5			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.793G>A	10.37:g.96818118C>T	ENSP00000360317:p.Asp265Asn		96808108	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237271	0.58886	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.15834	2.39;2.39;2.39	4.17	4.17	0.49024	.	0.000000	0.85682	U	0.000000	T	0.52613	0.1745	H	0.94183	3.505	0.46336	D	0.998992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.991;0.996;0.995	T	0.68006	-0.5523	10	0.87932	D	0	.	14.2979	0.66327	0.0:1.0:0.0:0.0	.	179;163;233;265	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	N	265;232;163;179	ENSP00000360317:D265N;ENSP00000445062:D163N;ENSP00000442343:D179N	ENSP00000360317:D265N	D	-	1	0	CYP2C8	96808108	1.000000	0.71417	0.631000	0.29282	0.120000	0.20174	6.452000	0.73485	2.021000	0.59480	0.305000	0.20034	GAT		0.358	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
CYP2C8	1558	broad.mit.edu	37	10	96824642	96824642	+	Missense_Mutation	SNP	C	C	T	rs543793530		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:96824642C>T	ENST00000371270.3	-	4	651	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R100Q|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R84Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	186					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.R186Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATAATCAAATCGTTTCTGGAA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		13283	0.0		0.0	False		,,,				2504	0.001				p.R186Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	10						.						95.0	91.0	93.0					10																	96824642		2203	4300	6503	96814632	SO:0001583	missense	1558	exon4			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.557G>A	10.37:g.96824642C>T	ENSP00000360317:p.Arg186Gln		96814632	NM_000770	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215885	0.79352	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.13901	2.55;2.55;2.55	4.45	2.54	0.30619	.	0.000000	0.64402	U	0.000001	T	0.40570	0.1122	M	0.92219	3.285	0.38487	D	0.947888	D;D;D;D	0.89917	0.997;0.997;1.0;0.997	P;P;D;P	0.70227	0.772;0.775;0.968;0.712	T	0.52215	-0.8605	10	0.87932	D	0	.	8.6143	0.33822	0.0:0.8202:0.0:0.1798	.	100;84;154;186	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	Q	186;153;84;100	ENSP00000360317:R186Q;ENSP00000445062:R84Q;ENSP00000442343:R100Q	ENSP00000360317:R186Q	R	-	2	0	CYP2C8	96814632	0.938000	0.31826	0.996000	0.52242	0.886000	0.51366	1.906000	0.39887	2.027000	0.59764	0.313000	0.20887	CGA		0.388	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
PDLIM1	9124	broad.mit.edu	37	10	97007027	97007027	+	Silent	SNP	C	C	T	rs141682059		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97007027C>T	ENST00000329399.6	-	5	738	c.630G>A	c.(628-630)ccG>ccA	p.P210P	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	210					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P210P(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGACTGTTTCGGGGGCTCAT	0.468													c|||	1	0.000199681	0.0	0.0	5008	,	,		20875	0.001		0.0	False		,,,				2504	0.0				p.P210P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G630A	10						.	T		1,4405	2.1+/-5.4	0,1,2202	119.0	112.0	115.0		630	-11.5	0.0	10	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	PDLIM1	NM_020992.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		210/330	97007027	1,13005	2203	4300	6503	96997017	SO:0001819	synonymous_variant	9124	exon5			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.630G>A	10.37:g.97007027C>T			96997017	NM_020992	B2RBS6|Q5VZH5|Q9BPZ9	Silent	SNP	ENST00000329399.6	37	CCDS7441.1																																																																																				0.468	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049508.1		
SORBS1	10580	broad.mit.edu	37	10	97111111	97111111	+	Missense_Mutation	SNP	C	C	T	rs202075782		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97111111C>T	ENST00000361941.3	-	23	2263	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q	SORBS1_ENST00000393949.1_Missense_Mutation_p.R716Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.R558Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.R523Q|SORBS1_ENST00000306402.6_Missense_Mutation_p.R493Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.R597Q|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.R716Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.R700Q|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1006Q|SORBS1_ENST00000353505.5_Missense_Mutation_p.R597Q|SORBS1_ENST00000371247.2_Missense_Mutation_p.R746Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.R768Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.R768Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R597Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCGTTTAAGTCGTCTCTGGTC	0.453																																					p.R452Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1355A	10						.						106.0	97.0	100.0					10																	97111111		2203	4300	6503	97101101	SO:0001583	missense	10580	exon15			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2237G>A	10.37:g.97111111C>T	ENSP00000355136:p.Arg746Gln		97101101	NM_001034957		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597758	0.96602	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T	0.14766	3.17;2.58;2.68;2.69;3.06;2.64;3.17;2.48;2.68;3.06;2.64;2.51	5.99	5.99	0.97316	.	0.000000	0.32204	N	0.006427	T	0.37598	0.1009	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.711;0.998;0.996;0.993;0.999;0.984;0.996;0.998;0.998;0.927	T	0.00666	-1.1619	10	0.51188	T	0.08	-6.0066	20.4777	0.99188	0.0:1.0:0.0:0.0	.	814;461;700;493;523;597;746;768;558;716;240	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-9;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	Q	597;493;746;700;768;716;597;558;746;768;716;523	ENSP00000360291:R597Q;ENSP00000302556:R493Q;ENSP00000360293:R746Q;ENSP00000360271:R700Q;ENSP00000360292:R768Q;ENSP00000377521:R716Q;ENSP00000343998:R597Q;ENSP00000277985:R558Q;ENSP00000355136:R746Q;ENSP00000277982:R768Q;ENSP00000277984:R716Q;ENSP00000360283:R523Q	ENSP00000277982:R768Q	R	-	2	0	SORBS1	97101101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	2.840000	0.97914	0.655000	0.94253	CGA		0.453	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
SORBS1	10580	broad.mit.edu	37	10	97114661	97114661	+	Missense_Mutation	SNP	C	C	T	rs370866519		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97114661C>T	ENST00000361941.3	-	22	2218	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	SORBS1_ENST00000393949.1_Missense_Mutation_p.R701Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.R543Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.R508Q|SORBS1_ENST00000306402.6_Missense_Mutation_p.R478Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.R582Q|SORBS1_ENST00000371241.1_Missense_Mutation_p.R437Q|SORBS1_ENST00000371249.2_Missense_Mutation_p.R569Q|SORBS1_ENST00000354106.3_Missense_Mutation_p.R701Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.R685Q|SORBS1_ENST00000607232.1_Missense_Mutation_p.R991Q|SORBS1_ENST00000353505.5_Missense_Mutation_p.R582Q|SORBS1_ENST00000371247.2_Missense_Mutation_p.R731Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.R753Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.R753Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R582Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATGACGTCTTCGAATAAATTC	0.333																																					p.R437Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	10						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	113.0	115.0	114.0		2192,2258,1745,1310,1310,1706,1433	6.1	1.0	10		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	43,43,43,43,43,43,43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	731/1293,753/1152,582/906,437/741,437/685,569/817,478/782	97114661	1,13001	2201	4300	6501	97104651	SO:0001583	missense	10580	exon14			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2192G>A	10.37:g.97114661C>T	ENSP00000355136:p.Arg731Gln		97104651	NM_001034957		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308406	0.95629	0.0	1.16E-4	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.12039	3.35;2.77;2.87;2.89;2.89;3.27;2.86;3.35;2.72;2.89;3.27;2.79;2.86;2.74	6.06	6.06	0.98353	.	0.000000	0.34652	N	0.003800	T	0.34337	0.0894	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;B;D;D;D;D;D;D;D;D;P	0.89917	1.0;0.999;1.0;0.406;1.0;0.993;1.0;1.0;0.991;0.997;1.0;0.995;0.647	D;D;D;B;D;P;D;D;P;D;D;P;B	0.91635	0.961;0.924;0.999;0.167;0.998;0.694;0.996;0.981;0.837;0.942;0.981;0.898;0.09	T	0.00630	-1.1636	10	0.66056	D	0.02	-6.9223	14.7322	0.69391	0.0:0.9314:0.0:0.0686	.	799;446;685;569;478;437;508;582;731;753;543;701;225	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	Q	582;478;569;731;685;753;701;582;543;731;753;437;701;508	ENSP00000360291:R582Q;ENSP00000302556:R478Q;ENSP00000360295:R569Q;ENSP00000360293:R731Q;ENSP00000360271:R685Q;ENSP00000360292:R753Q;ENSP00000377521:R701Q;ENSP00000343998:R582Q;ENSP00000277985:R543Q;ENSP00000355136:R731Q;ENSP00000277982:R753Q;ENSP00000360285:R437Q;ENSP00000277984:R701Q;ENSP00000360283:R508Q	ENSP00000277982:R753Q	R	-	2	0	SORBS1	97104651	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.446000	0.60014	2.882000	0.98803	0.655000	0.94253	CGA		0.333	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
SORBS1	10580	broad.mit.edu	37	10	97135810	97135810	+	Missense_Mutation	SNP	G	G	A	rs143262691		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97135810G>A	ENST00000361941.3	-	17	1683	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	SORBS1_ENST00000393949.1_Missense_Mutation_p.R523W|SORBS1_ENST00000347291.4_Missense_Mutation_p.R421W|SORBS1_ENST00000371239.1_Missense_Mutation_p.R352W|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.R438W|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.R523W|SORBS1_ENST00000371227.4_Missense_Mutation_p.R507W|SORBS1_ENST00000607232.1_Missense_Mutation_p.R342W|SORBS1_ENST00000353505.5_Missense_Mutation_p.R438W|SORBS1_ENST00000371247.2_Missense_Mutation_p.R553W|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R575W|SORBS1_ENST00000371246.2_Missense_Mutation_p.R575W	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R438W(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTTATATCCCGACTCTATAGG	0.388																																					p.R553W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1657T	10						.	G	TRP/ARG,TRP/ARG,TRP/ARG,,,,	1,4403	2.1+/-5.4	0,1,2201	65.0	67.0	66.0		1657,1723,1312,,,,	5.8	1.0	10	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	101,101,101,,,,	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,,,,	553/1293,575/1152,438/906,,,,	97135810	2,13002	2202	4300	6502	97125800	SO:0001583	missense	10580	exon17			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1657C>T	10.37:g.97135810G>A	ENSP00000355136:p.Arg553Trp		97125800	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787090	0.70337	2.27E-4	1.16E-4	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.77	5.77	0.91146	.	0.000000	0.33199	N	0.005172	T	0.63367	0.2505	L	0.27053	0.805	0.32863	D	0.50823	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.977;0.999;0.975;0.977;0.995	T	0.67051	-0.5768	10	0.42905	T	0.14	-12.8611	19.9981	0.97395	0.0:0.0:1.0:0.0	.	507;438;553;575;421;523	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	W	438;553;507;575;523;438;421;553;575;523;352	ENSP00000360291:R438W;ENSP00000360293:R553W;ENSP00000360271:R507W;ENSP00000360292:R575W;ENSP00000377521:R523W;ENSP00000343998:R438W;ENSP00000277985:R421W;ENSP00000355136:R553W;ENSP00000277982:R575W;ENSP00000277984:R523W;ENSP00000360283:R352W	ENSP00000277982:R575W	R	-	1	2	SORBS1	97125800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.558000	0.82253	2.729000	0.93468	0.655000	0.94253	CGG		0.388	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
TCTN3	26123	broad.mit.edu	37	10	97423938	97423938	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97423938G>T	ENST00000371217.5	-	14	1733	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	TCTN3_ENST00000265993.9_Missense_Mutation_p.F588L|TCTN3_ENST00000430368.2_Missense_Mutation_p.F422L			Q6NUS6	TECT3_HUMAN	tectonic family member 3	570					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.F392L(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		TGAAGGGAAAGAAGTCGAATG	0.463																																					p.F422L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1266A	10						.						271.0	272.0	272.0					10																	97423938		2203	4300	6503	97413928	SO:0001583	missense	26123	exon10			AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1710C>A	10.37:g.97423938G>T	ENSP00000360261:p.Phe570Leu		97413928	NM_001143973	A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796147	0.50208	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.90620	-2.7	5.86	1.51	0.23008	.	0.000000	0.64402	D	0.000002	D	0.89691	0.6788	M	0.86178	2.8	0.29684	N	0.841488	B;B;P	0.34800	0.349;0.132;0.469	B;B;B	0.37480	0.175;0.055;0.251	D	0.83578	0.0116	10	0.38643	T	0.18	-12.8909	7.8311	0.29342	0.387:0.0:0.613:0.0	.	422;570;392	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	L	570;422;588;392	ENSP00000265993:F570L	ENSP00000265993:F570L	F	-	3	2	TCTN3	97413928	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	0.419000	0.21247	0.256000	0.21614	0.563000	0.77884	TTC		0.463	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631	
CC2D2B	387707	broad.mit.edu	37	10	97791713	97791713	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97791713A>G	ENST00000344386.3	+	9	1081	c.917A>G	c.(916-918)aAc>aGc	p.N306S	RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|CC2D2B_ENST00000410012.2_Missense_Mutation_p.N385S|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	306								p.N306S(1)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCATACCCAAACAACATATTA	0.373																																					p.N306S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917G	10						.						118.0	104.0	108.0					10																	97791713		1827	4093	5920	97781703	SO:0001583	missense	387707	exon9			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.917A>G	10.37:g.97791713A>G	ENSP00000343747:p.Asn306Ser		97781703	NM_001001732	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728299	0.48833	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	T	0.70869	-0.52	6.04	1.17	0.20885	.	.	.	.	.	T	0.51686	0.1689	L	0.35723	1.085	0.27130	N	0.96192	B;P	0.39352	0.081;0.669	B;B	0.34824	0.028;0.19	T	0.41124	-0.9526	9	0.06494	T	0.89	.	9.4701	0.38837	0.7336:0.0:0.2664:0.0	.	385;306	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	S	385;306	ENSP00000343747:N306S	ENSP00000343747:N306S	N	+	2	0	CC2D2B	97781703	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	4.727000	0.61993	-0.036000	0.13669	-0.468000	0.05107	AAC		0.373	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732	
CCNJ	54619	broad.mit.edu	37	10	97810174	97810174	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97810174C>T	ENST00000265992.5	+	3	598	c.231C>T	c.(229-231)atC>atT	p.I77I	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Silent_p.I77I|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000403870.3_Silent_p.I77I|CCNJ_ENST00000465148.2_Silent_p.I77I|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	77	Cyclin N-terminal.					nucleus (GO:0005634)		p.I77I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		GCTATGACATCTCTATCCAGC	0.433																																					p.I77I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	10						.						168.0	151.0	157.0					10																	97810174		2203	4300	6503	97800164	SO:0001819	synonymous_variant	54619	exon3			AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.231C>T	10.37:g.97810174C>T			97800164	NM_019084	B7Z4E7|Q86XL1|Q9NV69	Silent	SNP	ENST00000265992.5	37	CCDS7445.1																																																																																				0.433	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084	
ZNF518A	9849	broad.mit.edu	37	10	97920132	97920132	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:97920132C>A	ENST00000534948.1	+	0	4908							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGTTTTGAATCATCCTGACGC	0.353																																					p.I1351I												.	.	0			c.C4053A	10						.						110.0	107.0	108.0					10																	97920132		1840	4095	5935	97910122			9849	exon6			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920132C>A			97910122	NM_014803	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.353	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803	
OPALIN	93377	broad.mit.edu	37	10	98115020	98115020	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98115020C>T	ENST00000371172.3	-	2	436	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000419479.1_5'UTR|OPALIN_ENST00000393870.2_Missense_Mutation_p.A11T|OPALIN_ENST00000536387.1_5'UTR	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	11						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A11T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						ACTGTGTTCGCCGGCAGGGTG	0.488																																					p.A11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	10						.						135.0	132.0	133.0					10																	98115020		2203	4300	6503	98105010	SO:0001583	missense	93377	exon2			AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.31G>A	10.37:g.98115020C>T	ENSP00000360214:p.Ala11Thr		98105010	NM_033207	A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705219	0.15172	.	.	ENSG00000197430	ENST00000371172;ENST00000393870	.	.	.	4.59	1.4	0.22301	.	0.724984	0.12414	N	0.471010	T	0.26122	0.0637	L	0.29908	0.895	0.09310	N	0.99999	B	0.02656	0.0	B	0.08055	0.003	T	0.23440	-1.0188	9	0.62326	D	0.03	-5.135	2.4487	0.04512	0.2044:0.5068:0.1826:0.1061	.	11	Q96PE5	OPALI_HUMAN	T	11	.	ENSP00000360214:A11T	A	-	1	0	OPALIN	98105010	0.001000	0.12720	0.041000	0.18516	0.010000	0.07245	-0.088000	0.11198	0.615000	0.30124	0.643000	0.83706	GCG		0.488	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207	
TLL2	7093	broad.mit.edu	37	10	98133400	98133400	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98133400G>A	ENST00000357947.3	-	19	2840	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	872	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S872L(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGGCATCCGAATAAAACCT	0.597																																					p.S872L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2615T	10						.						76.0	76.0	76.0					10																	98133400		2203	4300	6503	98123390	SO:0001583	missense	7093	exon19			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2615C>T	10.37:g.98133400G>A	ENSP00000350630:p.Ser872Leu		98123390	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362335	0.95877	.	.	ENSG00000095587	ENST00000357947	T	0.47177	0.85	4.85	4.85	0.62838	CUB (5);	0.000000	0.41097	D	0.000957	D	0.82356	0.5019	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89913	0.4053	10	0.87932	D	0	.	17.4922	0.87707	0.0:0.0:1.0:0.0	.	872	Q9Y6L7	TLL2_HUMAN	L	872	ENSP00000350630:S872L	ENSP00000350630:S872L	S	-	2	0	TLL2	98123390	1.000000	0.71417	0.746000	0.31095	0.988000	0.76386	9.601000	0.98297	2.677000	0.91161	0.561000	0.74099	TCG		0.597	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
TLL2	7093	broad.mit.edu	37	10	98136533	98136533	+	Silent	SNP	C	C	T	rs553436918		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98136533C>T	ENST00000357947.3	-	18	2589	c.2364G>A	c.(2362-2364)gcG>gcA	p.A788A		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	788	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A788A(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGTTGGGGCTCGCCAGGGTCC	0.562																																					p.A788A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2364A	10						.						69.0	69.0	69.0					10																	98136533		2203	4300	6503	98126523	SO:0001819	synonymous_variant	7093	exon18			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2364G>A	10.37:g.98136533C>T			98126523	NM_012465	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	CCDS7449.1																																																																																				0.562	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1		
PIK3AP1	118788	broad.mit.edu	37	10	98416630	98416630	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98416630C>T	ENST00000339364.5	-	3	611	c.492G>A	c.(490-492)tcG>tcA	p.S164S	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	164					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.S164S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTGCTGCTTCGAGTAGGAAA	0.577																																					p.S164S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G492A	10						.						120.0	93.0	102.0					10																	98416630		2203	4300	6503	98406620	SO:0001819	synonymous_variant	118788	exon3			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.492G>A	10.37:g.98416630C>T			98406620	NM_152309	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	CCDS31259.1																																																																																				0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
SLIT1	6585	broad.mit.edu	37	10	98790581	98790581	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98790581G>T	ENST00000266058.4	-	25	2760	c.2515C>A	c.(2515-2517)Ctc>Atc	p.L839I	SLIT1_ENST00000371070.4_Missense_Mutation_p.L839I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	839					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.L839I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGCCGTGGAGAGACCTGAGA	0.602																																					p.L839I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2515A	10						.						136.0	111.0	119.0					10																	98790581		2203	4300	6503	98780571	SO:0001583	missense	6585	exon25			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2515C>A	10.37:g.98790581G>T	ENSP00000266058:p.Leu839Ile		98780571	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517776	0.64634	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.74421	-0.84;-0.84	5.17	4.26	0.50523	.	0.064498	0.64402	D	0.000009	T	0.77239	0.4101	M	0.82132	2.575	0.80722	D	1	B	0.29552	0.248	B	0.38880	0.284	T	0.78091	-0.2339	10	0.87932	D	0	.	8.757	0.34652	0.0804:0.1513:0.7684:0.0	.	839	O75093	SLIT1_HUMAN	I	839	ENSP00000266058:L839I;ENSP00000360109:L839I	ENSP00000266058:L839I	L	-	1	0	SLIT1	98780571	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	1.388000	0.46506	0.561000	0.74099	CTC		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
SLIT1	6585	broad.mit.edu	37	10	98806509	98806509	+	Silent	SNP	G	G	A	rs565102855		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:98806509G>A	ENST00000266058.4	-	18	2000	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	SLIT1_ENST00000371070.4_Silent_p.F585F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	585					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.F585F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCGCCCTCGAAGGCCCCAT	0.597																																					p.F585F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1755T	10						.						61.0	60.0	61.0					10																	98806509		2203	4300	6503	98796499	SO:0001819	synonymous_variant	6585	exon18			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1755C>T	10.37:g.98806509G>A			98796499	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																				0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
ARHGAP19	84986	broad.mit.edu	37	10	99023341	99023341	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:99023341C>T	ENST00000358531.4	-	4	477	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R141Q|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R150Q|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R141Q|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.R150Q|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R150Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	150	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R150Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		AATCTGCTGTCGGACACTATT	0.403																																					p.R150Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	10						.						128.0	120.0	123.0					10																	99023341		2203	4300	6503	99013331	SO:0001583	missense	84986	exon4			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.449G>A	10.37:g.99023341C>T	ENSP00000351333:p.Arg150Gln		99013331	NM_032900	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	36	5.927646	0.97110	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.87	5.87	0.94306	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	U	0.000001	T	0.49643	0.1569	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.976;1.0	T	0.42310	-0.9459	10	0.62326	D	0.03	-5.7991	20.197	0.98244	0.0:1.0:0.0:0.0	.	150;150;141	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	150;150;141;150;141;150	ENSP00000414774:R150Q;ENSP00000324468:R150Q;ENSP00000347526:R141Q;ENSP00000351333:R150Q;ENSP00000360066:R141Q;ENSP00000351058:R150Q	ENSP00000324468:R150Q	R	-	2	0	ARHGAP19	99013331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.675000	0.84002	2.775000	0.95449	0.655000	0.94253	CGA		0.403	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	
GOLGA7B	401647	broad.mit.edu	37	10	99619240	99619240	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:99619240G>A	ENST00000370602.1	+	2	103	c.38G>A	c.(37-39)cGa>cAa	p.R13Q		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	13						Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R13Q(1)		endometrium(1)|large_intestine(3)|prostate(1)	5						GAGCTCCGGCGAAGTGCCTCA	0.582																																					p.R13Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38A	10						.						66.0	59.0	62.0					10																	99619240		2203	4300	6503	99609230	SO:0001583	missense	401647	exon2			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.38G>A	10.37:g.99619240G>A	ENSP00000359634:p.Arg13Gln		99609230	NM_001010917	Q5T4F5	Missense_Mutation	SNP	ENST00000370602.1	37	CCDS31265.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407805	0.42715	.	.	ENSG00000155265	ENST00000370602	.	.	.	4.89	4.89	0.63831	.	0.134085	0.51477	D	0.000099	T	0.12263	0.0298	N	0.01048	-1.04	0.36394	D	0.862708	P	0.43352	0.804	B	0.27262	0.078	T	0.35525	-0.9785	9	0.07325	T	0.83	-12.1217	17.8428	0.88720	0.0:0.0:1.0:0.0	.	13	Q2TAP0	GOG7B_HUMAN	Q	13	.	ENSP00000359634:R13Q	R	+	2	0	GOLGA7B	99609230	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.937000	0.56575	2.566000	0.86566	0.555000	0.69702	CGA		0.582	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049752.1	NM_001010917	
CRTAC1	55118	broad.mit.edu	37	10	99640059	99640059	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:99640059T>C	ENST00000370597.3	-	14	2121	c.1766A>G	c.(1765-1767)aAc>aGc	p.N589S	CRTAC1_ENST00000298819.4_Missense_Mutation_p.T575A|CRTAC1_ENST00000370591.2_Missense_Mutation_p.N589S|CRTAC1_ENST00000468549.1_5'Flank	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	589	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.N589S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCACTTCTTGTTGGTCCGGCA	0.572																																					p.N589S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1766G	10						.						141.0	115.0	124.0					10																	99640059		2203	4300	6503	99630049	SO:0001583	missense	55118	exon14			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1766A>G	10.37:g.99640059T>C	ENSP00000359629:p.Asn589Ser		99630049	NM_018058	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.47|15.47	2.842599|2.842599	0.51057|0.51057	.|.	.|.	ENSG00000095713|ENSG00000095713	ENST00000370597;ENST00000436034;ENST00000309155;ENST00000370591|ENST00000413387;ENST00000298819	T;T;T|T;T	0.73258|0.32988	-0.73;0.11;0.1|1.43;1.46	4.39|4.39	4.39|4.39	0.52855|0.52855	EGF-like calcium-binding (1);|.	0.119478|.	0.56097|.	D|.	0.000031|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.12887|0.12887	0.27|0.27	0.44462|0.44462	D|D	0.997398|0.997398	P;P|B	0.37061|0.12013	0.525;0.58|0.005	B;B|B	0.40256|0.14023	0.156;0.324|0.01	T|T	0.06006|0.06006	-1.0851|-1.0851	10|9	0.59425|0.02654	D|T	0.04|1	-29.615|-29.615	12.7241|12.7241	0.57159|0.57159	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	589;589|471	Q9NQ79-2;Q9NQ79|Q5T4F6	.;CRAC1_HUMAN|.	S|A	589;43;581;589|471;575	ENSP00000359629:N589S;ENSP00000310810:N581S;ENSP00000359623:N589S|ENSP00000408445:T471A;ENSP00000298819:T575A	ENSP00000310810:N581S|ENSP00000298819:T575A	N|T	-|-	2|1	0|0	CRTAC1|CRTAC1	99630049|99630049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	5.555000|5.555000	0.67301|0.67301	1.852000|1.852000	0.53769|0.53769	0.368000|0.368000	0.22195|0.22195	AAC|ACA		0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
CRTAC1	55118	broad.mit.edu	37	10	99640121	99640121	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:99640121G>A	ENST00000370597.3	-	14	2059	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	CRTAC1_ENST00000298819.4_Missense_Mutation_p.S554L|CRTAC1_ENST00000370591.2_Silent_p.F568F|CRTAC1_ENST00000468549.1_5'UTR	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	568	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.F568F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGGGCACACGAATGGGAACT	0.577																																					p.F568F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1704T	10						.						138.0	104.0	115.0					10																	99640121		2203	4300	6503	99630111	SO:0001819	synonymous_variant	55118	exon14			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1704C>T	10.37:g.99640121G>A			99630111	NM_018058	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424317	0.25639	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35421	1.31;1.33	4.39	-5.57	0.02521	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	8	0.10902	T	0.67	-17.3058	13.8944	0.63761	0.7094:0.0:0.2906:0.0	.	450	Q5T4F6	.	L	450;554	ENSP00000408445:S450L;ENSP00000298819:S554L	ENSP00000298819:S554L	S	-	2	0	CRTAC1	99630111	0.011000	0.17503	0.671000	0.29857	0.967000	0.64934	-0.874000	0.04210	-1.149000	0.02843	-0.480000	0.04831	TCG		0.577	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
R3HCC1L	27291	broad.mit.edu	37	10	99967933	99967933	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:99967933T>C	ENST00000298999.3	+	5	365	c.62T>C	c.(61-63)gTa>gCa	p.V21A	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.V21A	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	21	EJC-binding motif; may mediate interaction with the EJC.						nucleotide binding (GO:0000166)	p.V21A(1)									GCACTTTATGTACCTAAAGCT	0.433																																					p.V21A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T62C	10						.						48.0	46.0	47.0					10																	99967933		2203	4300	6503	99957923	SO:0001583	missense	27291	exon4			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.62T>C	10.37:g.99967933T>C	ENSP00000298999:p.Val21Ala		99957923	NM_014472	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.558331	0.65538	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.20200	2.09;2.09	6.11	6.11	0.99139	.	0.481115	0.19214	N	0.119860	T	0.37972	0.1023	M	0.71581	2.175	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.53224	0.721;0.721	T	0.17379	-1.0371	10	0.72032	D	0.01	-3.6085	13.0939	0.59180	0.0:0.0:0.0:1.0	.	21;21	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	A	21	ENSP00000359616:V21A;ENSP00000298999:V21A	ENSP00000298999:V21A	V	+	2	0	C10orf28	99957923	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.416000	0.59815	2.343000	0.79666	0.533000	0.62120	GTA		0.433	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472	
SYCE1	93426	broad.mit.edu	37	10	135373634	135373634	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:135373634T>C	ENST00000343131.5	-	2	201	c.97A>G	c.(97-99)Att>Gtt	p.I33V	SYCE1_ENST00000432597.2_5'UTR|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_5'UTR	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	33					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.I33V(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AAGTCTTCAATTTTCTGTGAG	0.532																																					p.I33V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A97G	10						.						173.0	123.0	140.0					10																	135373634		2203	4300	6503	135223624	SO:0001583	missense	93426	exon2			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.97A>G	10.37:g.135373634T>C	ENSP00000341282:p.Ile33Val		135223624	NM_001143764	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	.	15.59	2.879419	0.51801	.	.	ENSG00000171772	ENST00000303903;ENST00000343131	T;T	0.30981	1.51;1.9	4.42	2.05	0.26809	.	.	.	.	.	T	0.23054	0.0557	L	0.46157	1.445	0.25923	N	0.983096	B	0.21753	0.06	B	0.20184	0.028	T	0.23084	-1.0198	9	0.29301	T	0.29	-6.5125	4.5335	0.12017	0.0:0.1009:0.198:0.7011	.	33	Q8N0S2	SYCE1_HUMAN	V	33	ENSP00000303978:I33V;ENSP00000341282:I33V	ENSP00000303978:I33V	I	-	1	0	SYCE1	135223624	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.382000	0.44345	0.456000	0.26937	-0.460000	0.05396	ATT		0.532	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564	
ERAP1	51752	broad.mit.edu	37	5	96119660	96119661	+	Frame_Shift_Del	DEL	TT	TT	-	rs150327661	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96119660_96119661delTT	ENST00000443439.2	-	14	2133_2134	c.2067_2068delAA	c.(2065-2070)aaaagafs	p.R690fs	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000296754.3_Frame_Shift_Del_p.R690fs	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	690					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.D691fs*3(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTCATATCTCTTTTCTCCATTA	0.317																																					p.689_690del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2067_2068del	5						.																																			96145417	SO:0001589	frameshift_variant	51752	exon14			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2067_2068delAA	5.37:g.96119662_96119663delTT	ENSP00000406304:p.Arg690fs		96145416	NM_001040458	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	CCDS47250.1																																																																																				0.317	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
SLCO4C1	353189	broad.mit.edu	37	5	101631936	101631936	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:101631936C>T	ENST00000310954.6	-	1	317	c.31G>A	c.(31-33)Gct>Act	p.A11T		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.A11T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGGACAAAAGCCAAGTTCTCA	0.582																																					p.A11T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	5						.						72.0	82.0	79.0					5																	101631936		2203	4300	6503	101659835	SO:0001583	missense	353189	exon1			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.31G>A	5.37:g.101631936C>T	ENSP00000309741:p.Ala11Thr		101659835	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265248	0.59431	.	.	ENSG00000173930	ENST00000310954	T	0.44482	0.92	4.11	4.11	0.48088	.	1.154150	0.06696	N	0.770459	T	0.43853	0.1266	L	0.55481	1.735	0.29023	N	0.886171	P	0.46784	0.884	B	0.40825	0.341	T	0.43507	-0.9387	10	0.51188	T	0.08	.	13.1695	0.59589	0.0:1.0:0.0:0.0	.	11	Q6ZQN7	SO4C1_HUMAN	T	11	ENSP00000309741:A11T	ENSP00000309741:A11T	A	-	1	0	SLCO4C1	101659835	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	3.247000	0.51422	2.095000	0.63458	0.591000	0.81541	GCT		0.582	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
PAM	5066	broad.mit.edu	37	5	102343348	102343348	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:102343348T>G	ENST00000438793.3	+	19	2672	c.2202T>G	c.(2200-2202)atT>atG	p.I734M	PAM_ENST00000455264.2_Missense_Mutation_p.I734M|PAM_ENST00000274392.9_Missense_Mutation_p.I637M|PAM_ENST00000346918.2_Missense_Mutation_p.I734M|PAM_ENST00000304400.7_Missense_Mutation_p.I734M|PAM_ENST00000379787.4_Missense_Mutation_p.I114M|PAM_ENST00000348126.2_Missense_Mutation_p.I627M	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.I734M(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TATTTGCAATTTCATATATAC	0.323																																					p.I734M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2202G	5						.						80.0	84.0	83.0					5																	102343348		2203	4300	6503	102371247	SO:0001583	missense	5066	exon19			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2202T>G	5.37:g.102343348T>G	ENSP00000396493:p.Ile734Met		102371247	NM_138822	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	14.69|14.69|14.69	2.610059|2.610059|2.610059	0.46527|0.46527|0.46527	.|.|.	.|.|.	ENSG00000145730|ENSG00000145730|ENSG00000145730	ENST00000504691|ENST00000379799|ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264	.|.|D;D;D;T;D;D;D	.|.|0.91295	.|.|-2.82;-2.82;-2.82;0.33;-2.82;-2.82;-2.82	5.28|5.28|5.28	4.08|4.08|4.08	0.47627|0.47627|0.47627	.|.|Six-bladed beta-propeller, TolB-like (1);	.|.|0.097209	.|.|0.64402	.|.|D	.|.|0.000001	D|D|D	0.92087|0.92087|0.92087	0.7492|0.7492|0.7492	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.46279|0.46279|0.46279	D|D|D	0.998963|0.998963|0.998963	.|.|P;P;P;P;P;P	.|.|0.46064	.|.|0.872;0.798;0.872;0.458;0.872;0.872	.|.|D;P;D;P;D;D	.|.|0.68192	.|.|0.956;0.904;0.956;0.613;0.956;0.956	D|D|D	0.90638|0.90638|0.90638	0.4572|0.4572|0.4572	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	.|.|.	7.4636|7.4636|7.4636	0.27310|0.27310|0.27310	0.0:0.0731:0.1421:0.7848|0.0:0.0731:0.1421:0.7848|0.0:0.0731:0.1421:0.7848	.|.|.	.|.|637;734;734;734;734;627	.|.|F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.|.|.;AMD_HUMAN;.;.;.;.	C|V|M	29|507|734;734;627;114;734;637;734	.|.|ENSP00000396493:I734M;ENSP00000282992:I734M;ENSP00000314638:I627M;ENSP00000369113:I114M;ENSP00000306100:I734M;ENSP00000274392:I637M;ENSP00000403461:I734M	.|.|ENSP00000274392:I637M	F|F|I	+|+|+	2|1|3	0|0|3	PAM|PAM|PAM	102371247|102371247|102371247	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	2.168000|2.168000|2.168000	0.42424|0.42424|0.42424	0.974000|0.974000|0.974000	0.38366|0.38366|0.38366	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|TTC|ATT		0.323	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
GIN1	54826	broad.mit.edu	37	5	102432431	102432431	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:102432431C>T	ENST00000399004.2	-	7	1202	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	370					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.V370I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTCTTAAAACTTCATGACCC	0.343																																					p.V370I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1108A	5						.						179.0	168.0	171.0					5																	102432431		1824	4080	5904	102460330	SO:0001583	missense	54826	exon7			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.1108G>A	5.37:g.102432431C>T	ENSP00000381970:p.Val370Ile		102460330	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227453	0.79576	.	.	ENSG00000145723	ENST00000399004	T	0.31247	1.5	5.77	4.91	0.64330	.	0.000000	0.51477	D	0.000096	T	0.24736	0.0600	L	0.29908	0.895	0.80722	D	1	B	0.22541	0.071	B	0.19666	0.026	T	0.04635	-1.0937	10	0.87932	D	0	-1.8514	12.9022	0.58130	0.0:0.9252:0.0:0.0748	.	370	Q9NXP7	GIN1_HUMAN	I	370	ENSP00000381970:V370I	ENSP00000381970:V370I	V	-	1	0	GIN1	102460330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.264000	0.51553	1.445000	0.47624	0.655000	0.94253	GTT		0.343	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
GIN1	54826	broad.mit.edu	37	5	102442551	102442551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:102442551C>A	ENST00000399004.2	-	3	296	c.202G>T	c.(202-204)Gag>Tag	p.E68*	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Nonsense_Mutation_p.E68*	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	68					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)	p.E68*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTTTTTTCCTCTTCTGAAACA	0.328																																					p.E68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G202T	5						.						79.0	72.0	74.0					5																	102442551		1828	4080	5908	102470450	SO:0001587	stop_gained	54826	exon3			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.202G>T	5.37:g.102442551C>A	ENSP00000381970:p.Glu68*		102470450	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Nonsense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733320	0.69189	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.2306	18.8203	0.92094	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000381970:E68X	E	-	1	0	GIN1	102470450	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.770000	0.62309	2.880000	0.98712	0.650000	0.86243	GAG		0.328	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
FAM173B	134145	broad.mit.edu	37	5	10227742	10227742	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10227742C>A	ENST00000511437.1	-	5	525	c.513G>T	c.(511-513)aaG>aaT	p.K171N	FAM173B_ENST00000280330.8_Missense_Mutation_p.K7N|FAM173B_ENST00000510047.1_Missense_Mutation_p.K154N|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	171						integral component of membrane (GO:0016021)		p.K171N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAAGTTTCTTCTCCAACT	0.468																																					p.K171N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G513T	5						.						93.0	86.0	88.0					5																	10227742		1953	4156	6109	10280742	SO:0001583	missense	134145	exon5				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.513G>T	5.37:g.10227742C>A	ENSP00000422338:p.Lys171Asn		10280742	NM_199133	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442257	0.43326	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.21543	2.19;2.19;2.0	4.93	3.99	0.46301	.	0.420676	0.28042	N	0.016824	T	0.19446	0.0467	L	0.43152	1.355	0.42055	D	0.991138	B;B	0.20459	0.019;0.045	B;B	0.21546	0.012;0.035	T	0.03945	-1.0990	10	0.32370	T	0.25	-14.5423	13.7707	0.63023	0.0:0.8454:0.1546:0.0	.	154;171	E9PBZ4;Q6P4H8	.;F173B_HUMAN	N	7;171;154	ENSP00000280330:K7N;ENSP00000422338:K171N;ENSP00000420876:K154N	ENSP00000280330:K7N	K	-	3	2	FAM173B	10280742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.285000	0.33261	2.455000	0.83008	0.650000	0.86243	AAG		0.468	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133	
FAM173B	134145	broad.mit.edu	37	5	10239294	10239294	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10239294C>T	ENST00000511437.1	-	2	203	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R64Q|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	64						integral component of membrane (GO:0016021)		p.R64Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACAGACTTTTCGAAGGGCTGG	0.507																																					p.R64Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	5						.						108.0	108.0	108.0					5																	10239294		2037	4175	6212	10292294	SO:0001583	missense	134145	exon2				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.191G>A	5.37:g.10239294C>T	ENSP00000422338:p.Arg64Gln		10292294	NM_199133	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641436	0.87859	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.25912	1.77;1.77	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.68179	-0.5477	10	0.87932	D	0	-31.6697	17.7316	0.88379	0.0:1.0:0.0:0.0	.	64;64	E9PBZ4;Q6P4H8	.;F173B_HUMAN	Q	64	ENSP00000422338:R64Q;ENSP00000420876:R64Q	ENSP00000424210:R64Q	R	-	2	0	FAM173B	10292294	1.000000	0.71417	0.853000	0.33588	0.348000	0.29142	6.966000	0.76073	2.430000	0.82344	0.655000	0.94253	CGA		0.507	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133	
CCT5	22948	broad.mit.edu	37	5	10262652	10262652	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10262652C>T	ENST00000280326.4	+	9	1659	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Silent_p.I375I|CCT5_ENST00000506600.1_Silent_p.I320I|CCT5_ENST00000503026.1_Silent_p.I392I|CCT5_ENST00000515390.1_Silent_p.I358I	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	413					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGAACCTCATCCGCGATAATC	0.493																																					p.I413I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239T	5						.						176.0	142.0	153.0					5																	10262652		2203	4300	6503	10315652	SO:0001819	synonymous_variant	22948	exon9			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1239C>T	5.37:g.10262652C>T			10315652	NM_012073	A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	CCDS3877.1																																																																																				0.493	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2		
MARCH6	10299	broad.mit.edu	37	5	10390608	10390608	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10390608A>G	ENST00000274140.5	+	6	704	c.572A>G	c.(571-573)aAt>aGt	p.N191S	MARCH6_ENST00000503788.1_Missense_Mutation_p.N86S|MARCH6_ENST00000449913.2_Missense_Mutation_p.N143S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	191					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N191S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATCACCAAAATGAGGTAACT	0.478																																					p.N191S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A572G	5						.						78.0	76.0	77.0					5																	10390608		2203	4300	6503	10443608	SO:0001583	missense	10299	exon6			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.572A>G	5.37:g.10390608A>G	ENSP00000274140:p.Asn191Ser		10443608	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.708459	0.48517	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.43688	1.97;0.94;1.97	5.78	4.61	0.57282	.	0.091871	0.64402	D	0.000001	T	0.32466	0.0830	L	0.43152	1.355	0.80722	D	1	B;B;B	0.26547	0.152;0.02;0.126	B;B;B	0.25140	0.058;0.027;0.055	T	0.06180	-1.0841	10	0.09843	T	0.71	-4.2309	12.3921	0.55364	0.874:0.0:0.0:0.126	.	86;143;191	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	S	143;86;191	ENSP00000414643:N143S;ENSP00000425930:N86S;ENSP00000274140:N191S	ENSP00000274140:N191S	N	+	2	0	MARCH6	10443608	1.000000	0.71417	0.930000	0.37139	0.965000	0.64279	6.160000	0.71862	0.998000	0.38996	0.528000	0.53228	AAT		0.478	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
MARCH6	10299	broad.mit.edu	37	5	10433737	10433737	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10433737G>A	ENST00000274140.5	+	26	2806	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	MARCH6_ENST00000510792.1_Missense_Mutation_p.E590K|MARCH6_ENST00000503788.1_Missense_Mutation_p.E787K|MARCH6_ENST00000449913.2_Missense_Mutation_p.E844K	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	892					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E892K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CGTGAACTACGAACGGAAATC	0.428																																					p.E892K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2674A	5						.						221.0	176.0	191.0					5																	10433737		2203	4300	6503	10486737	SO:0001583	missense	10299	exon26			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2674G>A	5.37:g.10433737G>A	ENSP00000274140:p.Glu892Lys		10486737	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215864	0.95104	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.47528	1.84;0.84;1.84;0.84	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;P;P;P	0.72625	0.978;0.825;0.828;0.9	T	0.63211	-0.6688	10	0.23302	T	0.38	-20.9079	19.6511	0.95812	0.0:0.0:1.0:0.0	.	787;844;472;892	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	K	844;787;892;590	ENSP00000414643:E844K;ENSP00000425930:E787K;ENSP00000274140:E892K;ENSP00000424512:E590K	ENSP00000274140:E892K	E	+	1	0	MARCH6	10486737	1.000000	0.71417	0.882000	0.34594	0.919000	0.55068	9.241000	0.95402	2.646000	0.89796	0.563000	0.77884	GAA		0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
PPIP5K2	23262	broad.mit.edu	37	5	102503000	102503000	+	Nonsense_Mutation	SNP	C	C	T	rs147568161		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:102503000C>T	ENST00000358359.3	+	18	2547	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PPIP5K2_ENST00000321521.9_Nonsense_Mutation_p.R680*|PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R680*|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	680					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R680*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATCAGACATCGAATGGAAGA	0.289																																					p.R680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2038T	5						.	C	stop/ARG	0,4404		0,0,2202	73.0	79.0	77.0		2038	4.5	1.0	5	dbSNP_134	77	1,8583	1.2+/-3.3	0,1,4291	no	stop-gained	PPIP5K2	NM_015216.2		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		680/1223	102503000	1,12987	2202	4292	6494	102530899	SO:0001587	stop_gained	23262	exon17			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2038C>T	5.37:g.102503000C>T	ENSP00000351126:p.Arg680*		102530899	NM_015216	A1NI53|A6NGS8|Q8TB50	Nonsense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	C	39	7.648399	0.98409	0.0	1.16E-4	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	.	.	.	5.43	4.48	0.54585	.	0.171954	0.38663	N	0.001612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8768	0.57994	0.2479:0.7521:0.0:0.0	.	.	.	.	X	680	.	ENSP00000313070:R680X	R	+	1	2	PPIP5K2	102530899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.263000	0.33004	2.536000	0.85505	0.460000	0.39030	CGA		0.289	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
EFNA5	1946	broad.mit.edu	37	5	106722984	106722984	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:106722984G>A	ENST00000333274.6	-	4	798	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	EFNA5_ENST00000509503.1_Intron|EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	173					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)	p.R173C(1)		large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCGAAAACACGATCATGAACA	0.338																																					p.R173C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	5						.						87.0	83.0	85.0					5																	106722984		2200	4300	6500	106750883	SO:0001583	missense	1946	exon4			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.517C>T	5.37:g.106722984G>A	ENSP00000328777:p.Arg173Cys		106750883	NM_001962		Missense_Mutation	SNP	ENST00000333274.6	37	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488775	0.84962	.	.	ENSG00000184349	ENST00000333274	D	0.96365	-3.99	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95570	0.8560	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.54706	0.759	D	0.95792	0.8825	10	0.56958	D	0.05	-6.4087	20.0628	0.97684	0.0:0.0:1.0:0.0	.	173	P52803	EFNA5_HUMAN	C	173	ENSP00000328777:R173C	ENSP00000328777:R173C	R	-	1	0	EFNA5	106750883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.745000	0.94114	0.655000	0.94253	CGT		0.338	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
EFNA5	1946	broad.mit.edu	37	5	106762962	106762962	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:106762962G>A	ENST00000333274.6	-	2	655	c.374C>T	c.(373-375)tCt>tTt	p.S125F	EFNA5_ENST00000509503.1_Missense_Mutation_p.S125F	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	125	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)	p.S125F(1)		large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAATCCTAGAGAAAAGGGAGT	0.443																																					p.S125F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C374T	5						.						54.0	56.0	55.0					5																	106762962		2202	4300	6502	106790861	SO:0001583	missense	1946	exon2			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.374C>T	5.37:g.106762962G>A	ENSP00000328777:p.Ser125Phe		106790861	NM_001962		Missense_Mutation	SNP	ENST00000333274.6	37	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469729	0.84533	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	T;T	0.45276	0.9;0.9	6.17	6.17	0.99709	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.75590	-0.3265	10	0.72032	D	0.01	-14.226	20.8794	0.99867	0.0:0.0:1.0:0.0	.	125;125	D6RDV5;P52803	.;EFNA5_HUMAN	F	125	ENSP00000328777:S125F;ENSP00000426989:S125F	ENSP00000328777:S125F	S	-	2	0	EFNA5	106790861	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCT		0.443	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
EFNA5	1946	broad.mit.edu	37	5	106763065	106763065	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:106763065C>T	ENST00000333274.6	-	2	552	c.271G>A	c.(271-273)Gac>Aac	p.D91N	EFNA5_ENST00000509503.1_Missense_Mutation_p.D91N	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	91	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)	p.D91N(1)		large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GAAGTGTGGTCGCAGGCACTG	0.498																																					p.D91N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	5						.						131.0	128.0	129.0					5																	106763065		2202	4300	6502	106790964	SO:0001583	missense	1946	exon2			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.271G>A	5.37:g.106763065C>T	ENSP00000328777:p.Asp91Asn		106790964	NM_001962		Missense_Mutation	SNP	ENST00000333274.6	37	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399097	0.62177	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.92965	-3.14;-3.14	6.06	6.06	0.98353	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	L	0.33624	1.015	0.80722	D	1	B;B	0.28026	0.198;0.04	B;B	0.22152	0.038;0.031	T	0.83322	-0.0017	10	0.09843	T	0.71	-18.6451	20.6208	0.99490	0.0:1.0:0.0:0.0	.	91;91	D6RDV5;P52803	.;EFNA5_HUMAN	N	91	ENSP00000328777:D91N;ENSP00000426989:D91N	ENSP00000328777:D91N	D	-	1	0	EFNA5	106790964	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAC		0.498	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	
DAP	1611	broad.mit.edu	37	5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:10748365C>T	ENST00000230895.6	-	2	277	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_ENST00000510546.1_5'UTR|DAP_ENST00000432074.2_Missense_Mutation_p.R25Q	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	25					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)	p.R25Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502																																					p.R25Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74A	5						.						205.0	164.0	178.0					5																	10748365		2203	4300	6503	10801365	SO:0001583	missense	1611	exon2			X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.74G>A	5.37:g.10748365C>T	ENSP00000230895:p.Arg25Gln		10801365	NM_004394	Q6FGC3|Q9BUC9	Missense_Mutation	SNP	ENST00000230895.6	37	CCDS3880.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816953	0.70912	.	.	ENSG00000112977	ENST00000230895;ENST00000432074	T;T	0.61859	0.07;0.07	5.04	3.24	0.37175	.	.	.	.	.	T	0.74558	0.3732	M	0.85099	2.735	0.35460	D	0.79644	D;D	0.89917	0.996;1.0	P;D	0.83275	0.643;0.996	T	0.78999	-0.1982	9	0.87932	D	0	.	7.5169	0.27606	0.1635:0.7504:0.0:0.0861	.	25;25	B4DQ75;P51397	.;DAP1_HUMAN	Q	25	ENSP00000230895:R25Q;ENSP00000394163:R25Q	ENSP00000230895:R25Q	R	-	2	0	DAP	10801365	1.000000	0.71417	0.391000	0.26233	0.951000	0.60555	4.581000	0.60949	0.519000	0.28406	0.655000	0.94253	CGA		0.502	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253687.1	NM_004394	
FBXL17	64839	broad.mit.edu	37	5	107521861	107521861	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:107521861G>T	ENST00000542267.1	-	6	2108	c.1702C>A	c.(1702-1704)Ctt>Att	p.L568I	FBXL17_ENST00000359660.5_Missense_Mutation_p.L170I|FBXL17_ENST00000496714.1_Missense_Mutation_p.L170I	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	568								p.L170I(1)		endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGAGAGCTAAGATTTTTGCAC	0.348																																					p.L568I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1702A	5						.						95.0	91.0	92.0					5																	107521861		2202	4300	6502	107549760	SO:0001583	missense	64839	exon6			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1702C>A	5.37:g.107521861G>T	ENSP00000437464:p.Leu568Ile		107549760	NM_001163315	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131383	0.77549	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.53423	0.62;0.62;0.62	5.46	4.58	0.56647	.	0.143577	0.47455	D	0.000224	T	0.59183	0.2175	L	0.48642	1.525	0.44579	D	0.997549	D;D	0.76494	0.999;0.997	P;D	0.64042	0.883;0.921	T	0.60737	-0.7204	10	0.51188	T	0.08	.	14.4059	0.67081	0.0716:0.0:0.9284:0.0	.	568;170	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	I	170;568;170	ENSP00000352683:L170I;ENSP00000437464:L568I;ENSP00000418111:L170I	ENSP00000352683:L170I	L	-	1	0	FBXL17	107549760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.476000	0.81055	1.416000	0.47057	0.591000	0.81541	CTT		0.348	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FER	2241	broad.mit.edu	37	5	108168596	108168596	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:108168596G>T	ENST00000281092.4	+	4	717	c.333G>T	c.(331-333)aaG>aaT	p.K111N	FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron|CTD-2197I11.1_ENST00000510935.1_RNA|FER_ENST00000536402.1_Missense_Mutation_p.K111N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	111	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.K111N(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGCAGGTGAAGAAAAGTTACA	0.393																																					p.K111N	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G333T	5						.						170.0	152.0	158.0					5																	108168596		2202	4300	6502	108196495	SO:0001583	missense	2241	exon4			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.333G>T	5.37:g.108168596G>T	ENSP00000281092:p.Lys111Asn		108196495	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618346	0.87359	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.44083	0.93;0.93	6.11	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.59048	-0.7527	10	0.87932	D	0	-18.1337	11.8346	0.52316	0.1351:0.0:0.8649:0.0	.	111;111	Q6PEJ9;P16591	.;FER_HUMAN	N	111	ENSP00000281092:K111N;ENSP00000442627:K111N	ENSP00000281092:K111N	K	+	3	2	FER	108196495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.534000	0.53568	1.569000	0.49696	0.655000	0.94253	AAG		0.393	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
FER	2241	broad.mit.edu	37	5	108219175	108219175	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:108219175G>T	ENST00000281092.4	+	9	1386	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	FER_ENST00000438717.2_Missense_Mutation_p.E159D|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	334					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E334D(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGAGTTAGAGAAGAGAATTG	0.338																																					p.E334D	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1002T	5						.						99.0	108.0	105.0					5																	108219175		2202	4299	6501	108247074	SO:0001583	missense	2241	exon9			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1002G>T	5.37:g.108219175G>T	ENSP00000281092:p.Glu334Asp		108247074	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956975	0.34565	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.75704	-0.94;-0.96	5.4	-0.236	0.13067	.	0.142496	0.64402	D	0.000008	T	0.62319	0.2418	L	0.40543	1.245	0.38644	D	0.951679	B	0.12013	0.005	B	0.11329	0.006	T	0.56408	-0.7984	10	0.48119	T	0.1	-18.5795	11.1609	0.48516	0.5034:0.0:0.4966:0.0	.	334	P16591	FER_HUMAN	D	334;159	ENSP00000281092:E334D;ENSP00000394297:E159D	ENSP00000281092:E334D	E	+	3	2	FER	108247074	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	0.298000	0.19120	0.008000	0.14787	0.585000	0.79938	GAG		0.338	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
FER	2241	broad.mit.edu	37	5	108382853	108382853	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:108382853T>C	ENST00000281092.4	+	16	2262	c.1878T>C	c.(1876-1878)gtT>gtC	p.V626V	FER_ENST00000438717.2_Silent_p.V451V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	626	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V626V(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTATAGGAGTTTGCACACAAA	0.308																																					p.V626V	Colon(146;1051 1799 9836 27344 47401)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1878C	5						.						114.0	108.0	110.0					5																	108382853		2202	4298	6500	108410752	SO:0001819	synonymous_variant	2241	exon16			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1878T>C	5.37:g.108382853T>C			108410752	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Silent	SNP	ENST00000281092.4	37	CCDS4098.1																																																																																				0.308	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
MAN2A1	4124	broad.mit.edu	37	5	109155562	109155562	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:109155562C>T	ENST00000261483.4	+	14	3354	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	768					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.R768W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGTTTTACTTCGGTTTGATCA	0.303																																					p.R768W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2302T	5						.						107.0	127.0	120.0					5																	109155562		2201	4294	6495	109183461	SO:0001583	missense	4124	exon14				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2302C>T	5.37:g.109155562C>T	ENSP00000261483:p.Arg768Trp		109183461	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	6.152	0.396239	0.11638	.	.	ENSG00000112893	ENST00000261483	T	0.79141	-1.24	6.06	-5.26	0.02772	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	1.156610	0.05829	N	0.617215	T	0.51449	0.1675	N	0.03000	-0.44	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42155	-0.9468	10	0.48119	T	0.1	5.2866	8.3076	0.32051	0.0:0.1685:0.2:0.6315	.	768	Q16706	MA2A1_HUMAN	W	768	ENSP00000261483:R768W	ENSP00000261483:R768W	R	+	1	2	MAN2A1	109183461	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.033000	0.13754	-0.518000	0.06452	-0.302000	0.09304	CGG		0.303	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
MAN2A1	4124	broad.mit.edu	37	5	109156017	109156017	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:109156017C>A	ENST00000261483.4	+	15	3477	c.2425C>A	c.(2425-2427)Ctc>Atc	p.L809I		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	809					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.L809I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGTGCCTACCTCTTCTTACC	0.353																																					p.L809I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2425A	5						.						94.0	92.0	93.0					5																	109156017		2202	4300	6502	109183916	SO:0001583	missense	4124	exon15				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2425C>A	5.37:g.109156017C>A	ENSP00000261483:p.Leu809Ile		109183916	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468374	0.84533	.	.	ENSG00000112893	ENST00000261483	D	0.83837	-1.77	5.97	5.11	0.69529	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	M	0.79123	2.44	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	D	0.90746	0.4653	10	0.48119	T	0.1	-15.2381	14.7124	0.69244	0.0:0.9304:0.0:0.0696	.	809	Q16706	MA2A1_HUMAN	I	809	ENSP00000261483:L809I	ENSP00000261483:L809I	L	+	1	0	MAN2A1	109183916	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.257000	0.51500	1.542000	0.49330	0.655000	0.94253	CTC		0.353	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
SLC25A46	91137	broad.mit.edu	37	5	110091182	110091182	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:110091182G>T	ENST00000355943.3	+	6	707	c.581G>T	c.(580-582)tGg>tTg	p.W194L	SLC25A46_ENST00000509432.1_5'UTR|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.W32L|SLC25A46_ENST00000447245.2_Missense_Mutation_p.W194L|SLC25A46_ENST00000509442.2_Missense_Mutation_p.W103L|SLC25A46_ENST00000504098.1_Missense_Mutation_p.W48L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	194					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.W194L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTACATAAATGGAGTCCTAAA	0.274																																					p.W194L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581T	5						.						53.0	61.0	58.0					5																	110091182		2202	4290	6492	110119081	SO:0001583	missense	91137	exon6			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.581G>T	5.37:g.110091182G>T	ENSP00000348211:p.Trp194Leu		110119081	NM_138773	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054934	0.19907	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098	D;T;T;T;T	0.82167	-1.58;-1.05;-1.05;-1.05;-1.05	5.62	4.74	0.60224	Mitochondrial carrier domain (2);	0.105251	0.64402	N	0.000001	T	0.80232	0.4585	M	0.67953	2.075	0.53005	D	0.999967	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.74954	-0.3488	10	0.10636	T	0.68	-2.2584	16.1307	0.81436	0.0:0.0:0.8657:0.1342	.	103;194	B4DY98;Q96AG3	.;S2546_HUMAN	L	32;103;194;48;194;48	ENSP00000421134:W32L;ENSP00000424136:W103L;ENSP00000348211:W194L;ENSP00000399717:W194L;ENSP00000425708:W48L	ENSP00000348211:W194L	W	+	2	0	SLC25A46	110119081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.823000	0.69272	1.341000	0.45600	0.655000	0.94253	TGG		0.274	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773	
SLC25A46	91137	broad.mit.edu	37	5	110097445	110097445	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:110097445A>C	ENST00000355943.3	+	8	1346	c.1220A>C	c.(1219-1221)aAa>aCa	p.K407T	SLC25A46_ENST00000509432.1_Missense_Mutation_p.K194T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K245T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K326T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K316T|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K261T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	407					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K407T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CAGATTACCAAAATTATTTAC	0.338																																					p.K407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1220C	5						.						64.0	66.0	65.0					5																	110097445		2196	4297	6493	110125344	SO:0001583	missense	91137	exon8			BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.1220A>C	5.37:g.110097445A>C	ENSP00000348211:p.Lys407Thr		110125344	NM_138773	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.838576	0.71373	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000447245;ENST00000504098;ENST00000509432	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.92	5.92	0.95590	Mitochondrial carrier domain (1);	0.043127	0.85682	D	0.000000	D	0.86871	0.6037	M	0.66378	2.025	0.80722	D	1	D;D	0.76494	0.98;0.999	P;D	0.72075	0.833;0.976	D	0.87826	0.2641	10	0.66056	D	0.02	-13.112	16.3604	0.83263	1.0:0.0:0.0:0.0	.	316;407	B4DY98;Q96AG3	.;S2546_HUMAN	T	245;316;407;261;326;261;194	ENSP00000421134:K245T;ENSP00000424136:K316T;ENSP00000348211:K407T;ENSP00000399717:K326T;ENSP00000425708:K261T;ENSP00000426604:K194T	ENSP00000348211:K407T	K	+	2	0	SLC25A46	110125344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.623000	0.67757	2.260000	0.74910	0.528000	0.53228	AAA		0.338	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773	
CAMK4	814	broad.mit.edu	37	5	110710590	110710590	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:110710590C>T	ENST00000282356.4	+	3	681	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	CAMK4_ENST00000512453.1_Missense_Mutation_p.R95C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.R95C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGTTCTTCTTCGCCTCTCACA	0.393																																					p.R95C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	5						.						97.0	91.0	93.0					5																	110710590		2202	4300	6502	110738489	SO:0001583	missense	814	exon3			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.283C>T	5.37:g.110710590C>T	ENSP00000282356:p.Arg95Cys		110738489	NM_001744	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369036	0.82463	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.67698	-0.28;-0.28;-0.28	5.77	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79131	0.4394	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.81464	-0.0921	10	0.72032	D	0.01	.	15.3044	0.73982	0.1408:0.8592:0.0:0.0	.	95	Q16566	KCC4_HUMAN	C	95	ENSP00000426940:R95C;ENSP00000422634:R95C;ENSP00000282356:R95C	ENSP00000282356:R95C	R	+	1	0	CAMK4	110738489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.657000	0.61490	1.433000	0.47394	0.650000	0.86243	CGC		0.393	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
STARD4	134429	broad.mit.edu	37	5	110837779	110837779	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:110837779C>A	ENST00000296632.3	-	4	297	c.163G>T	c.(163-165)Gcc>Tcc	p.A55S	STARD4_ENST00000509887.1_Intron|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000502322.1_Missense_Mutation_p.A55S|STARD4_ENST00000511569.1_5'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	55	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.A55S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		ACACCTTGGGCTTTGTAGCTG	0.373																																					p.A55S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G163T	5						.						104.0	112.0	110.0					5																	110837779		2202	4300	6502	110865678	SO:0001583	missense	134429	exon4			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.163G>T	5.37:g.110837779C>A	ENSP00000296632:p.Ala55Ser		110865678	NM_139164	Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447257	0.63178	.	.	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.50001	0.76;0.76;0.76	5.94	5.94	0.96194	Lipid-binding START (2);START-like domain (1);	0.238543	0.36932	N	0.002339	T	0.50701	0.1631	M	0.62723	1.935	0.80722	D	1	B;P	0.35401	0.319;0.499	B;P	0.44359	0.201;0.447	T	0.40459	-0.9562	10	0.20519	T	0.43	-3.2249	10.6683	0.45743	0.0:0.8587:0.0:0.1413	.	55;55	Q86TN9;Q96DR4	.;STAR4_HUMAN	S	55	ENSP00000296632:A55S;ENSP00000427478:A55S;ENSP00000427639:A55S	ENSP00000296632:A55S	A	-	1	0	STARD4	110865678	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	2.649000	0.46656	2.821000	0.97095	0.655000	0.94253	GCC		0.373	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164	
EPB41L4A	64097	broad.mit.edu	37	5	111519713	111519713	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:111519713G>A	ENST00000261486.5	-	18	1898	c.1622C>T	c.(1621-1623)tCg>tTg	p.S541L	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	541						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.S541L(1)|p.S168L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GTCCACATACGAACGAGATCT	0.403																																					p.S541L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1622T	5						.						170.0	157.0	161.0					5																	111519713		1877	4093	5970	111547612	SO:0001630	splice_region_variant	64097	exon18			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1622+1C>T	5.37:g.111519713G>A			111547612	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542091	0.65198	.	.	ENSG00000129595	ENST00000261486	D	0.83837	-1.77	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.91164	0.7217	M	0.69823	2.125	0.52099	D	0.999948	D;D	0.89917	0.991;1.0	B;D	0.83275	0.426;0.996	D	0.89126	0.3506	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	541;168	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	L	541	ENSP00000261486:S541L	.	S	-	2	0	EPB41L4A	111547612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.642000	0.83385	2.941000	0.99782	0.655000	0.94253	TCG		0.403	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		Missense_Mutation
EPB41L4A	64097	broad.mit.edu	37	5	111530269	111530269	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:111530269T>G	ENST00000261486.5	-	17	1774	c.1498A>C	c.(1498-1500)Aac>Cac	p.N500H	CTC-459M5.2_ENST00000506875.1_RNA|CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	500						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.N500H(1)|p.N127H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TATTACCTGTTTCTCTTTTTC	0.383																																					p.N500H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1498C	5						.						78.0	75.0	76.0					5																	111530269		1809	4069	5878	111558168	SO:0001583	missense	64097	exon17			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1498A>C	5.37:g.111530269T>G	ENSP00000261486:p.Asn500His		111558168	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.170939	0.38315	.	.	ENSG00000129595	ENST00000261486	D	0.82526	-1.62	5.09	3.91	0.45181	.	0.213426	0.46442	N	0.000292	T	0.73426	0.3585	L	0.36672	1.1	0.28889	N	0.893948	B;B	0.16802	0.009;0.019	B;B	0.16289	0.012;0.015	T	0.65010	-0.6272	10	0.40728	T	0.16	.	8.9304	0.35666	0.0:0.0:0.1878:0.8122	.	500;127	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	H	500	ENSP00000261486:N500H	ENSP00000261486:N500H	N	-	1	0	EPB41L4A	111558168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.937000	0.48979	0.935000	0.37341	0.528000	0.53228	AAC		0.383	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
EPB41L4A	64097	broad.mit.edu	37	5	111600633	111600633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:111600633C>A	ENST00000261486.5	-	6	790	c.514G>T	c.(514-516)Gaa>Taa	p.E172*		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	172	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.E172*(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TCTTCAAGTTCTTCCTTCTGA	0.358																																					p.E172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G514T	5						.						173.0	161.0	164.0					5																	111600633		1834	4097	5931	111628532	SO:0001587	stop_gained	64097	exon6			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.514G>T	5.37:g.111600633C>A	ENSP00000261486:p.Glu172*		111628532	NM_022140	A4FUI6	Nonsense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	40	8.481469	0.98829	.	.	ENSG00000129595	ENST00000261486	.	.	.	5.46	5.46	0.80206	.	0.067034	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0769	0.89430	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000261486:E172X	E	-	1	0	EPB41L4A	111628532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.052000	0.71080	2.568000	0.86640	0.650000	0.86243	GAA		0.358	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
APC	324	broad.mit.edu	37	5	112103071	112103071	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112103071G>A	ENST00000457016.1	+	4	786	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	APC_ENST00000257430.4_Missense_Mutation_p.E136K|APC_ENST00000508376.2_Missense_Mutation_p.E136K			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E136K(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)		ATATTTAGAAGAACTTGAGAA	0.338		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.E146K	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G436A	5						.						78.0	78.0	78.0					5																	112103071		2202	4300	6502	112130970	SO:0001583	missense	324	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.406G>A	5.37:g.112103071G>A	ENSP00000413133:p.Glu136Lys		112130970	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142195	0.94560	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	L	0.42245	1.32	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.978	D	0.93357	0.6723	9	.	.	.	-21.5101	19.2099	0.93749	0.0:0.0:1.0:0.0	.	138;136	Q4LE70;P25054	.;APC_HUMAN	K	136;146;136;136;136	ENSP00000413133:E136K;ENSP00000423224:E146K;ENSP00000257430:E136K;ENSP00000427089:E136K;ENSP00000423828:E136K	.	E	+	1	0	APC	112130970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.780000	0.85658	2.547000	0.85894	0.585000	0.79938	GAA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112173612	112173612	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112173612A>G	ENST00000457016.1	+	16	2701	c.2321A>G	c.(2320-2322)gAc>gGc	p.D774G	APC_ENST00000257430.4_Missense_Mutation_p.D774G|APC_ENST00000508376.2_Missense_Mutation_p.D774G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	774	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.D774G(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)		GAAACTTTTGACAATATAGAC	0.383		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.D756G	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.A2267G	5						.						61.0	62.0	62.0					5																	112173612		2202	4300	6502	112201511	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2321A>G	5.37:g.112173612A>G	ENSP00000413133:p.Asp774Gly		112201511	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312998	0.60414	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;T;D;D;T	0.92199	-2.99;0.9;-2.99;-2.99;0.9	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	L	0.57536	1.79	0.80722	D	1	B;B	0.33964	0.434;0.434	B;P	0.44696	0.298;0.458	D	0.91382	0.5128	10	0.36615	T	0.2	-15.5051	16.8061	0.85666	1.0:0.0:0.0:0.0	.	776;774	Q4LE70;P25054	.;APC_HUMAN	G	774;756;774;774;774	ENSP00000413133:D774G;ENSP00000423224:D756G;ENSP00000257430:D774G;ENSP00000427089:D774G;ENSP00000423828:D774G	ENSP00000257430:D774G	D	+	2	0	APC	112201511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	GAC		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175490	112175490	+	Missense_Mutation	SNP	C	C	T	rs267600319		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112175490C>T	ENST00000457016.1	+	16	4579	c.4199C>T	c.(4198-4200)tCg>tTg	p.S1400L	APC_ENST00000257430.4_Missense_Mutation_p.S1400L|APC_ENST00000508376.2_Missense_Mutation_p.S1400L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1400	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.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*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)		GAGAGTCGTTCGATTGCCAGC	0.478		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.S1382L	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,colon,Substitution - Nonsense,0	.	17	Deletion - Frameshift(9)|Substitution - Nonsense(6)|Unknown(1)|Substitution - Missense(1)	large_intestine(15)|soft_tissue(1)|skin(1)	c.C4145T	5	GRCh37	CM995167	APC	M		.						109.0	102.0	104.0					5																	112175490		2202	4300	6502	112203389	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4199C>T	5.37:g.112175490C>T	ENSP00000413133:p.Ser1400Leu		112203389	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245123	0.79912	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91894	-2.93;-2.93;-2.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93788	0.7090	9	.	.	.	-9.695	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1402;1400	Q4LE70;P25054	.;APC_HUMAN	L	1400	ENSP00000413133:S1400L;ENSP00000257430:S1400L;ENSP00000427089:S1400L	.	S	+	2	0	APC	112203389	1.000000	0.71417	0.721000	0.30653	0.765000	0.43378	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCG		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1450	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1450*(153)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.R1450fs*22(1)|p.S1436fs*22(1)|p.R1450fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAAACCAAGCGAGAAGTACC	0.478	R1450*(LS123_LARGE_INTESTINE)|R1450*(MKN74_STOMACH)|R1450*(SW1417_LARGE_INTESTINE)|R1450*(SW837_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R1432X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,rectum,Substitution - Nonsense,0	.	159	Substitution - Nonsense(153)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(136)|stomach(13)|soft_tissue(4)|small_intestine(3)|endometrium(1)|skin(1)|pancreas(1)	c.C4294T	5	GRCh37	CM930030	APC	M	rs121913332	.						102.0	90.0	94.0					5																	112175639		2202	4300	6502	112203538	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4348C>T	5.37:g.112175639C>T	ENSP00000413133:p.Arg1450*		112203538	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.651223	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	4.2	0.49525	.	0.600559	0.18052	N	0.153248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.0649	14.037	0.64651	0.426:0.574:0.0:0.0	.	.	.	.	X	1450	.	.	R	+	1	2	APC	112203538	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.171000	0.50824	1.564000	0.49628	0.655000	0.94253	CGA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175897	112175897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112175897G>T	ENST00000457016.1	+	16	4986	c.4606G>T	c.(4606-4608)Gaa>Taa	p.E1536*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1536*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1536*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1536	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.E1536*(4)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATGGGAATGAAACAGAATC	0.383		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.E1518X	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,right,Substitution - Nonsense,0	.	6	Substitution - Nonsense(4)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(3)|thyroid(1)|soft_tissue(1)|skin(1)	c.G4552T	5						.						76.0	81.0	79.0					5																	112175897		2202	4300	6502	112203796	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.4606G>T	5.37:g.112175897G>T	ENSP00000413133:p.Glu1536*		112203796	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	42	9.668045	0.99234	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.9312	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	1536	.	.	E	+	1	0	APC	112203796	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.842000	0.86851	2.937000	0.99478	0.650000	0.86243	GAA		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112179573	112179573	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112179573C>T	ENST00000457016.1	+	16	8662	c.8282C>T	c.(8281-8283)cCa>cTa	p.P2761L	APC_ENST00000257430.4_Missense_Mutation_p.P2761L|APC_ENST00000508376.2_Missense_Mutation_p.P2761L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2761	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.P2761L(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)		GAACGTACCCCATTCAGTTCT	0.453		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.P2743L	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.C8228T	5						.						73.0	74.0	73.0					5																	112179573		2202	4299	6501	112207472	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8282C>T	5.37:g.112179573C>T	ENSP00000413133:p.Pro2761Leu		112207472	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381724	0.61845	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.78003	-1.14;-1.14;-1.14	5.92	5.92	0.95590	EB-1 binding (1);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	L	0.29908	0.895	0.80722	D	1	P;P	0.47484	0.896;0.896	P;P	0.46419	0.516;0.516	T	0.71596	-0.4545	9	.	.	.	-16.8033	20.3248	0.98698	0.0:1.0:0.0:0.0	.	2763;2761	Q4LE70;P25054	.;APC_HUMAN	L	2761	ENSP00000413133:P2761L;ENSP00000257430:P2761L;ENSP00000427089:P2761L	.	P	+	2	0	APC	112207472	1.000000	0.71417	0.973000	0.42090	0.946000	0.59487	6.453000	0.73488	2.818000	0.97014	0.655000	0.94253	CCA		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	broad.mit.edu	37	5	112364657	112364657	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112364657G>A	ENST00000302475.4	-	16	2846	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	MCC_ENST00000515367.2_Silent_p.F698F|MCC_ENST00000408903.3_Silent_p.F951F|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	761					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F951F(1)|p.F761F(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATCATTCACGAACTCTGCAG	0.507																																					p.F951F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2853T	5						.						175.0	177.0	176.0					5																	112364657		2202	4300	6502	112392556	SO:0001819	synonymous_variant	4163	exon18				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2283C>T	5.37:g.112364657G>A			112392556	NM_001085377	D3DT05|Q6ZR04	Silent	SNP	ENST00000302475.4	37	CCDS4111.1																																																																																				0.507	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
TSSK1B	83942	broad.mit.edu	37	5	112770512	112770512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112770512G>A	ENST00000390666.3	-	1	216	c.25C>T	c.(25-27)Cga>Tga	p.R9*	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	9					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R9*(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TAGCCTCGTCGCTTGAGGACA	0.547																																					p.R9X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C25T	5						.						42.0	44.0	43.0					5																	112770512		2135	4268	6403	112798411	SO:0001587	stop_gained	83942	exon1			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.25C>T	5.37:g.112770512G>A	ENSP00000375081:p.Arg9*		112798411	NM_032028	B2R8D9	Nonsense_Mutation	SNP	ENST00000390666.3	37	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558400	0.65538	.	.	ENSG00000212122	ENST00000390666	.	.	.	2.67	0.564	0.17302	.	0.640100	0.11147	U	0.594584	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	6.6988	0.23213	0.0:0.0:0.4911:0.5089	.	.	.	.	X	9	.	ENSP00000375081:R9X	R	-	1	2	TSSK1B	112798411	0.581000	0.26741	1.000000	0.80357	0.615000	0.37417	0.856000	0.27818	0.490000	0.27771	-0.224000	0.12420	CGA		0.547	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
YTHDC2	64848	broad.mit.edu	37	5	112862360	112862360	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112862360G>A	ENST00000161863.4	+	4	766	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	YTHDC2_ENST00000515883.1_Missense_Mutation_p.E185K	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	185					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.E185K(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGGAGAATCCGAATTTGATTC	0.348																																					p.E185K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G553A	5						.						86.0	88.0	87.0					5																	112862360		2202	4300	6502	112890259	SO:0001583	missense	64848	exon4			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.553G>A	5.37:g.112862360G>A	ENSP00000161863:p.Glu185Lys		112890259	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195298	0.58017	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000514720;ENST00000511372	T;T	0.07327	4.19;3.2	5.52	5.52	0.82312	.	0.200495	0.51477	D	0.000085	T	0.06280	0.0162	N	0.21448	0.665	0.54753	D	0.999981	B	0.17465	0.022	B	0.08055	0.003	T	0.40515	-0.9559	10	0.16420	T	0.52	.	13.0706	0.59059	0.0738:0.0:0.9262:0.0	.	185	Q9H6S0	YTDC2_HUMAN	K	185;185;125;95	ENSP00000161863:E185K;ENSP00000423101:E185K	ENSP00000161863:E185K	E	+	1	0	YTHDC2	112890259	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.599000	0.82757	2.753000	0.94483	0.467000	0.42956	GAA		0.348	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
YTHDC2	64848	broad.mit.edu	37	5	112929045	112929045	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:112929045C>T	ENST00000161863.4	+	29	4471	c.4258C>T	c.(4258-4260)Cgt>Tgt	p.R1420C		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1420					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.R1420C(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTATGGGAACGTCTTCCCTT	0.368																																					p.R1420C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4258T	5						.						104.0	98.0	100.0					5																	112929045		2202	4300	6502	112956944	SO:0001583	missense	64848	exon29			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.4258C>T	5.37:g.112929045C>T	ENSP00000161863:p.Arg1420Cys		112956944	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129828	0.77549	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.32023	1.47	5.98	5.98	0.97165	YTH domain (1);	0.056624	0.64402	D	0.000003	T	0.47414	0.1444	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	P	0.55999	0.789	T	0.42632	-0.9440	10	0.87932	D	0	.	15.1811	0.72960	0.141:0.859:0.0:0.0	.	1420	Q9H6S0	YTDC2_HUMAN	C	1420;1330	ENSP00000161863:R1420C	ENSP00000161863:R1420C	R	+	1	0	YTHDC2	112956944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.957000	0.49137	2.839000	0.97877	0.650000	0.86243	CGT		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
KCNN2	3781	broad.mit.edu	37	5	113831648	113831648	+	Silent	SNP	C	C	T	rs150495473		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:113831648C>T	ENST00000512097.3	+	9	2527	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	KCNN2_ENST00000264773.3_Silent_p.F503F|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Silent_p.F155F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	503					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.F155F(1)|p.F503F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GTGAAGACTTCGAGAAGAGGA	0.438																																					p.F503F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1509T	5						.						115.0	120.0	119.0					5																	113831648		2202	4300	6502	113859547	SO:0001819	synonymous_variant	3781	exon8			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1509C>T	5.37:g.113831648C>T			113859547	NM_021614	A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	CCDS4114.1																																																																																				0.438	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614	
SLC12A7	10723	broad.mit.edu	37	5	1094320	1094320	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:1094320G>A	ENST00000264930.5	-	2	211	c.168C>T	c.(166-168)gtC>gtT	p.V56V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	56					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V56V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCCACCTCGACATTGTTGA	0.433																																					p.V56V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	5						.						135.0	124.0	128.0					5																	1094320		2202	4300	6502	1147320	SO:0001819	synonymous_variant	10723	exon2			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.168C>T	5.37:g.1094320G>A			1147320	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	CCDS34129.1																																																																																				0.433	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
CTNND2	1501	broad.mit.edu	37	5	11411651	11411651	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:11411651C>A	ENST00000304623.8	-	5	625	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.E146*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.E55*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.E55*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	146					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E146*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTTACTTTCACCTGTAGAA	0.378																																					p.E146X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G436T	5						.						152.0	142.0	145.0					5																	11411651		2203	4300	6503	11464651	SO:0001587	stop_gained	1501	exon5			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.436G>T	5.37:g.11411651C>A	ENSP00000307134:p.Glu146*		11464651	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	40	8.166475	0.98686	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	.	.	.	5.96	5.96	0.96718	.	0.249863	0.34245	N	0.004132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	146;146;55;55;132;55;132	.	ENSP00000307134:E146X	E	-	1	0	CTNND2	11464651	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	7.230000	0.78097	2.832000	0.97577	0.655000	0.94253	GAA		0.378	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
CTNND2	1501	broad.mit.edu	37	5	11412150	11412150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:11412150G>A	ENST00000304623.8	-	4	508	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q107*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q16*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q16*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	107					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q107*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACATTACCTTGTGACTGCCAC	0.299																																					p.Q107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	5						.						118.0	120.0	119.0					5																	11412150		2203	4298	6501	11465150	SO:0001587	stop_gained	1501	exon4			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.319C>T	5.37:g.11412150G>A	ENSP00000307134:p.Gln107*		11465150	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	39	7.387945	0.98252	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	.	.	.	5.68	5.68	0.88126	.	0.664722	0.14774	N	0.299237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	13.7138	0.62685	0.0:0.0:0.8461:0.1538	.	.	.	.	X	107;107;16;16;93;16;93	.	ENSP00000307134:Q107X	Q	-	1	0	CTNND2	11465150	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.592000	0.74095	2.678000	0.91216	0.585000	0.79938	CAA		0.299	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
PGGT1B	5229	broad.mit.edu	37	5	114557652	114557652	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:114557652C>A	ENST00000419445.1	-	7	732	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	PGGT1B_ENST00000379615.3_Intron|PGGT1B_ENST00000514178.1_5'UTR	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	238					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)	p.E238*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GAAAAAACTTCTTCTAGTTTA	0.363																																					p.E238X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G712T	5						.						96.0	93.0	94.0					5																	114557652		2202	4300	6502	114585551	SO:0001587	stop_gained	5229	exon7				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.712G>T	5.37:g.114557652C>A	ENSP00000404676:p.Glu238*		114585551	NM_005023	Q5MJP9	Nonsense_Mutation	SNP	ENST00000419445.1	37	CCDS4116.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422755	0.96111	.	.	ENSG00000164219	ENST00000419445	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-22.653	18.3496	0.90333	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000404676:E238X	E	-	1	0	PGGT1B	114585551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.827000	0.69300	2.403000	0.81681	0.585000	0.79938	GAA		0.363	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023	
AP3S1	1176	broad.mit.edu	37	5	115202422	115202422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:115202422G>T	ENST00000316788.7	+	2	682	c.125G>T	c.(124-126)aGa>aTa	p.R42I		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	42					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GTATCTAAGAGAGATGAAAAT	0.308																																					p.R42I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125T	5						.						66.0	70.0	69.0					5																	115202422		2202	4293	6495	115230321	SO:0001583	missense	1176	exon2			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.125G>T	5.37:g.115202422G>T	ENSP00000325369:p.Arg42Ile		115230321	NM_001284	O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	ENST00000316788.7	37	CCDS4123.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034178	0.93575	.	.	ENSG00000177879	ENST00000316788	T	0.60920	0.15	4.96	4.96	0.65561	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.994	D	0.90847	0.4728	10	0.87932	D	0	-18.8792	18.6851	0.91560	0.0:0.0:1.0:0.0	.	42;42;42	B2R4I8;Q92572;F5H459	.;AP3S1_HUMAN;.	I	42	ENSP00000325369:R42I	ENSP00000325369:R42I	R	+	2	0	AP3S1	115230321	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.585000	0.98223	2.702000	0.92279	0.655000	0.94253	AGA		0.308	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2		
LVRN	206338	broad.mit.edu	37	5	115335464	115335464	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:115335464G>T	ENST00000357872.4	+	7	1504	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		460						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E460D(1)									TATAGAATGAGATCTTTTTTT	0.363																																					p.E460D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1380T	5						.						53.0	56.0	55.0					5																	115335464		2201	4300	6501	115363363	SO:0001583	missense	206338	exon7																														ENST00000357872.4:c.1380G>T	5.37:g.115335464G>T	ENSP00000350541:p.Glu460Asp		115363363	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.887525	0.00527	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02974	4.09	5.77	-0.0472	0.13844	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.681845	0.14147	N	0.338275	T	0.03608	0.0103	L	0.37750	1.13	0.19300	N	0.999973	P	0.48589	0.912	P	0.51516	0.672	T	0.10405	-1.0631	10	0.02654	T	1	.	9.7276	0.40342	0.4391:0.0:0.5609:0.0	.	460	Q6Q4G3	AMPQ_HUMAN	D	460;449	ENSP00000350541:E460D	ENSP00000350541:E460D	E	+	3	2	AC010282.1	115363363	0.012000	0.17670	0.086000	0.20670	0.103000	0.19146	-0.010000	0.12743	0.081000	0.16988	0.655000	0.94253	GAG		0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
COMMD10	51397	broad.mit.edu	37	5	115428320	115428320	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:115428320G>T	ENST00000274458.4	+	4	384	c.322G>T	c.(322-324)Gca>Tca	p.A108S	COMMD10_ENST00000515539.1_Missense_Mutation_p.A94S	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	108								p.A108S(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CAAAGCTGAAGCATTTGTCAA	0.383																																					p.A108S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322T	5						.						98.0	88.0	91.0					5																	115428320		2202	4300	6502	115456219	SO:0001583	missense	51397	exon4			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.322G>T	5.37:g.115428320G>T	ENSP00000274458:p.Ala108Ser		115456219	NM_016144	D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180732	0.57800	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.11821	2.74;2.74;2.74	6.17	4.4	0.53042	.	0.160113	0.56097	D	0.000040	T	0.16685	0.0401	L	0.60455	1.87	0.40275	D	0.978334	P	0.41232	0.743	B	0.40506	0.331	T	0.01729	-1.1286	10	0.51188	T	0.08	-8.1293	11.4751	0.50293	0.0683:0.1261:0.8056:0.0	.	108	Q9Y6G5	COMDA_HUMAN	S	108;94;64	ENSP00000274458:A108S;ENSP00000427319:A94S;ENSP00000424611:A64S	ENSP00000274458:A108S	A	+	1	0	COMMD10	115456219	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	5.321000	0.65846	0.938000	0.37419	0.655000	0.94253	GCA		0.383	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144	
DMXL1	1657	broad.mit.edu	37	5	118469205	118469205	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:118469205G>T	ENST00000311085.8	+	12	1666	c.1586G>T	c.(1585-1587)aGa>aTa	p.R529I	DMXL1_ENST00000539542.1_Missense_Mutation_p.R529I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	529								p.R529I(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTGTTTCCAGAATTCCAGTA	0.373																																					p.R529I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1586T	5						.						106.0	109.0	108.0					5																	118469205		2202	4300	6502	118497104	SO:0001583	missense	1657	exon12			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1586G>T	5.37:g.118469205G>T	ENSP00000309690:p.Arg529Ile		118497104	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427955	0.83667	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.65732	-0.17;-0.17;-0.17	5.36	5.36	0.76844	WD40 repeat-like-containing domain (1);	0.041421	0.85682	D	0.000000	T	0.78528	0.4297	M	0.73430	2.235	0.80722	D	1	D;D	0.71674	0.998;0.982	D;P	0.62955	0.909;0.813	T	0.81109	-0.1082	10	0.87932	D	0	-19.7877	19.0891	0.93219	0.0:0.0:1.0:0.0	.	529;529	F5H269;Q9Y485	.;DMXL1_HUMAN	I	529	ENSP00000427692:R529I;ENSP00000309690:R529I;ENSP00000439479:R529I	ENSP00000309690:R529I	R	+	2	0	DMXL1	118497104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.533000	0.85409	0.591000	0.81541	AGA		0.373	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
DMXL1	1657	broad.mit.edu	37	5	118469657	118469657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:118469657G>T	ENST00000311085.8	+	12	2118	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.E680*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	680								p.E680*(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATATTGAAGAATGCTCTTT	0.408																																					p.E680X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2038T	5						.						112.0	109.0	110.0					5																	118469657		2202	4300	6502	118497556	SO:0001587	stop_gained	1657	exon12			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2038G>T	5.37:g.118469657G>T	ENSP00000309690:p.Glu680*		118497556	NM_005509		Nonsense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265078	0.80358	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.25	5.25	0.73442	.	0.766089	0.13133	N	0.411246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.2078	18.8237	0.92108	0.0:0.0:1.0:0.0	.	.	.	.	X	680	.	.	E	+	1	0	DMXL1	118497556	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	4.785000	0.62418	2.448000	0.82819	0.305000	0.20034	GAA		0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
DMXL1	1657	broad.mit.edu	37	5	118485175	118485175	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:118485175C>A	ENST00000311085.8	+	18	3733	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1218Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1218								p.S1218Y(1)|p.S1218C(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCCTGTTTCTTTATCGTGG	0.443																																					p.S1218Y												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C3653A	5						.						137.0	138.0	138.0					5																	118485175		2202	4300	6502	118513074	SO:0001583	missense	1657	exon18			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3653C>A	5.37:g.118485175C>A	ENSP00000309690:p.Ser1218Tyr		118513074	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252414	0.59212	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01584	4.75;4.75	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.76574	2.34	0.58432	D	0.999998	D;D	0.71674	0.998;0.985	D;P	0.69824	0.966;0.901	T	0.21314	-1.0249	10	0.26408	T	0.33	-17.336	19.5134	0.95153	0.0:1.0:0.0:0.0	.	1218;1218	F5H269;Q9Y485	.;DMXL1_HUMAN	Y	1218	ENSP00000309690:S1218Y;ENSP00000439479:S1218Y	ENSP00000309690:S1218Y	S	+	2	0	DMXL1	118513074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.696000	0.92011	0.655000	0.94253	TCT		0.443	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
DMXL1	1657	broad.mit.edu	37	5	118485283	118485283	+	Missense_Mutation	SNP	C	C	T	rs533249807		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:118485283C>T	ENST00000311085.8	+	18	3841	c.3761C>T	c.(3760-3762)tCg>tTg	p.S1254L	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1254L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1254								p.S1254L(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATAACAGATTCGTACAGTGGG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21070	0.0		0.0	False		,,,				2504	0.001				p.S1254L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3761T	5						.						73.0	68.0	70.0					5																	118485283		2202	4300	6502	118513182	SO:0001583	missense	1657	exon18			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3761C>T	5.37:g.118485283C>T	ENSP00000309690:p.Ser1254Leu		118513182	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674297	0.67928	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.10288	2.9;2.89	5.39	5.39	0.77823	.	0.206543	0.42821	D	0.000647	T	0.12220	0.0297	L	0.57536	1.79	0.80722	D	1	P;P	0.39094	0.659;0.573	B;B	0.22753	0.041;0.038	T	0.05099	-1.0906	10	0.46703	T	0.11	-11.5299	19.5134	0.95153	0.0:1.0:0.0:0.0	.	1254;1254	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1254	ENSP00000309690:S1254L;ENSP00000439479:S1254L	ENSP00000309690:S1254L	S	+	2	0	DMXL1	118513182	0.998000	0.40836	0.985000	0.45067	0.978000	0.69477	3.865000	0.56033	2.696000	0.92011	0.655000	0.94253	TCG		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
PRR16	51334	broad.mit.edu	37	5	120021842	120021842	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:120021842G>A	ENST00000407149.2	+	2	562	c.353G>A	c.(352-354)aGa>aAa	p.R118K	PRR16_ENST00000505123.1_Missense_Mutation_p.R48K|PRR16_ENST00000446965.1_Missense_Mutation_p.R48K|PRR16_ENST00000379551.2_Missense_Mutation_p.R95K			Q569H4	LARGN_HUMAN	proline rich 16	118	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.R95K(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACGGTCCTGAGAAAGCCAAAC	0.527																																					p.R95K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G284A	5						.						139.0	121.0	127.0					5																	120021842		2203	4300	6503	120049741	SO:0001583	missense	51334	exon3			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.353G>A	5.37:g.120021842G>A	ENSP00000385118:p.Arg118Lys		120049741	NM_016644	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37		.	.	.	.	.	.	.	.	.	.	G	10.22	1.289416	0.23478	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.71	5.71	0.89125	.	0.051119	0.85682	D	0.000000	T	0.39009	0.1062	L	0.38175	1.15	0.34945	D	0.750661	B;B	0.27625	0.183;0.183	B;B	0.32465	0.017;0.146	T	0.41466	-0.9507	9	.	.	.	-0.1802	18.6986	0.91611	0.0:0.0:1.0:0.0	.	118;95	Q569H4;Q569H4-3	PRR16_HUMAN;.	K	118;95;48;48;48	ENSP00000385118:R118K;ENSP00000368869:R95K;ENSP00000421256:R48K;ENSP00000423446:R48K;ENSP00000405491:R48K	.	R	+	2	0	PRR16	120049741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.307000	0.78920	2.709000	0.92574	0.644000	0.83932	AGA		0.527	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
SRFBP1	153443	broad.mit.edu	37	5	121355985	121355985	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121355985G>T	ENST00000339397.4	+	6	627	c.555G>T	c.(553-555)aaG>aaT	p.K185N		NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.K185N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATAATTCAAAGGAAAAAATAG	0.368																																					p.K185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G555T	5						.						114.0	104.0	107.0					5																	121355985		1859	4088	5947	121383884	SO:0001583	missense	153443	exon6			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.555G>T	5.37:g.121355985G>T	ENSP00000341324:p.Lys185Asn		121383884	NM_152546		Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250268	0.22880	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.45	1.84	0.25277	.	0.421060	0.26492	N	0.024070	T	0.42268	0.1195	M	0.63428	1.95	0.22873	N	0.998623	D	0.53619	0.961	P	0.47206	0.541	T	0.29731	-1.0002	9	0.51188	T	0.08	-13.5293	8.6863	0.34240	0.6903:0.0:0.3097:0.0	.	185	Q8NEF9	SRFB1_HUMAN	N	185	.	ENSP00000341324:K185N	K	+	3	2	SRFBP1	121383884	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	-0.032000	0.12266	0.874000	0.35823	0.467000	0.42956	AAG		0.368	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	
SRFBP1	153443	broad.mit.edu	37	5	121356488	121356488	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121356488G>T	ENST00000339397.4	+	6	1130	c.1058G>T	c.(1057-1059)aGc>aTc	p.S353I	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.S353I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		GGATCTAAAAGCTCTAGAAGG	0.313																																					p.S353I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058T	5						.						41.0	38.0	39.0					5																	121356488		1801	4080	5881	121384387	SO:0001583	missense	153443	exon6			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1058G>T	5.37:g.121356488G>T	ENSP00000341324:p.Ser353Ile		121384387	NM_152546		Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217511	0.39201	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.35	2.58	0.30949	.	0.930944	0.09364	N	0.812366	T	0.34629	0.0904	L	0.51422	1.61	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.34354	-0.9832	9	0.51188	T	0.08	-0.012	3.8577	0.08982	0.3036:0.0:0.5308:0.1655	.	353	Q8NEF9	SRFB1_HUMAN	I	353	.	ENSP00000341324:S353I	S	+	2	0	SRFBP1	121384387	0.844000	0.29557	0.886000	0.34754	0.722000	0.41435	1.585000	0.36600	0.331000	0.23511	-0.253000	0.11424	AGC		0.313	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	C	T	rs562977263		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121362759C>T	ENST00000339397.4	+	8	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	SRFBP1_ENST00000504881.1_Intron	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.R410*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAGCAGAAGGCGAAAAGAACA	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		15628	0.001		0.0	False		,,,				2504	0.0				p.R410X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1228T	5						.						47.0	45.0	46.0					5																	121362759		1835	4090	5925	121390658	SO:0001587	stop_gained	153443	exon8			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.1228C>T	5.37:g.121362759C>T	ENSP00000341324:p.Arg410*		121390658	NM_152546		Nonsense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	37	6.268854	0.97426	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.76	3.98	0.46160	.	0.060687	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7732	10.9237	0.47180	0.1307:0.8022:0.0:0.0671	.	.	.	.	X	410	.	ENSP00000341324:R410X	R	+	1	2	SRFBP1	121390658	1.000000	0.71417	0.979000	0.43373	0.945000	0.59286	3.375000	0.52410	0.785000	0.33685	0.655000	0.94253	CGA		0.363	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	
ZNF474	133923	broad.mit.edu	37	5	121487810	121487810	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121487810C>T	ENST00000296600.4	+	2	508	c.125C>T	c.(124-126)tCc>tTc	p.S42F	CTC-441N14.1_ENST00000505209.1_RNA|CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	42							metal ion binding (GO:0046872)	p.S42F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TCTAGCCTTTCCCCAGAAACA	0.388																																					p.S42F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C125T	5						.						94.0	102.0	99.0					5																	121487810		2203	4300	6503	121515709	SO:0001583	missense	133923	exon2			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"""Zinc fingers, C2H2-type"""	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.125C>T	5.37:g.121487810C>T	ENSP00000296600:p.Ser42Phe		121515709	NM_207317	A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	3.023	-0.201249	0.06219	.	.	ENSG00000164185	ENST00000296600;ENST00000504912	T	0.48836	0.8	5.58	-4.06	0.03986	.	3.371230	0.01961	U	0.043330	T	0.30541	0.0768	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.14172	-1.0482	10	0.29301	T	0.29	4.1434	7.1515	0.25614	0.0:0.4522:0.3502:0.1976	.	42	Q6S9Z5	ZN474_HUMAN	F	42	ENSP00000296600:S42F	ENSP00000296600:S42F	S	+	2	0	ZNF474	121515709	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.680000	0.05197	-0.586000	0.05898	-1.004000	0.02495	TCC		0.388	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317	
SNCAIP	9627	broad.mit.edu	37	5	121767749	121767749	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121767749T>G	ENST00000261368.8	+	6	1530	c.1268T>G	c.(1267-1269)cTt>cGt	p.L423R	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.L470R|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L363R|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L57R|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L470R|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000503116.2_Missense_Mutation_p.L470R	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	423					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.L470R(2)|p.L423R(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TTTCCAAGCCTTATTCATTAC	0.388																																					p.L423R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T1268G	5						.						113.0	101.0	105.0					5																	121767749		2203	4300	6503	121795648	SO:0001583	missense	9627	exon6			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1268T>G	5.37:g.121767749T>G	ENSP00000261368:p.Leu423Arg		121795648	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261668	0.80358	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T	0.65364	-0.15;0.57;0.57;-0.15;-0.15;0.57;0.57	4.84	4.84	0.62591	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.46157	1.445	0.80722	D	1	D;D;D;D;P;D;D;D	0.89917	0.997;0.999;0.998;1.0;0.867;1.0;0.999;0.999	D;D;D;D;B;D;D;D	0.91635	0.993;0.996;0.994;0.999;0.317;0.999;0.996;0.998	T	0.74976	-0.3480	10	0.54805	T	0.06	-13.0093	14.7375	0.69427	0.0:0.0:0.0:1.0	.	363;51;470;363;57;57;470;423	D6R9G8;Q9NVG1;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	R	363;423;470;363;57;470;63;470	ENSP00000422106:L363R;ENSP00000261368:L423R;ENSP00000368848:L470R;ENSP00000368851:L363R;ENSP00000368854:L57R;ENSP00000261367:L470R;ENSP00000423199:L470R	ENSP00000261367:L470R	L	+	2	0	SNCAIP	121795648	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.434000	0.80377	1.948000	0.56530	0.528000	0.53228	CTT		0.388	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
SNCAIP	9627	broad.mit.edu	37	5	121776414	121776414	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:121776414G>A	ENST00000261368.8	+	7	1649	c.1387G>A	c.(1387-1389)Gta>Ata	p.V463I	SNCAIP_ENST00000414317.2_Missense_Mutation_p.V65I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V510I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V403I|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V97I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V510I|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V21I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V510I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	463					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.V510I(2)|p.V463I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGCCGTTCACGTAGCCTCACA	0.418																																					p.V463I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1387A	5						.						145.0	136.0	139.0					5																	121776414		2203	4300	6503	121804313	SO:0001583	missense	9627	exon7			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1387G>A	5.37:g.121776414G>A	ENSP00000261368:p.Val463Ile		121804313	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	6.738	0.504981	0.12822	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T;T;T	0.64803	-0.02;-0.12;-0.03;-0.03;-0.12;-0.12;-0.03;-0.03;0.12	5.23	4.33	0.51752	Ankyrin repeat-containing domain (4);	0.199013	0.44285	N	0.000475	T	0.41050	0.1142	N	0.16708	0.43	0.36731	D	0.881722	B;B;B;B;B;B;B;B;B	0.21071	0.002;0.004;0.051;0.009;0.007;0.004;0.025;0.001;0.031	B;B;B;B;B;B;B;B;B	0.17433	0.002;0.002;0.015;0.008;0.006;0.002;0.006;0.001;0.018	T	0.38156	-0.9674	10	0.25106	T	0.35	-14.5961	7.2356	0.26067	0.3006:0.0:0.6994:0.0	.	403;91;65;510;403;97;97;510;463	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;.;SNCAP_HUMAN	I	21;403;463;510;403;97;510;65;103;510	ENSP00000441681:V21I;ENSP00000422106:V403I;ENSP00000261368:V463I;ENSP00000368848:V510I;ENSP00000368851:V403I;ENSP00000368854:V97I;ENSP00000261367:V510I;ENSP00000394392:V65I;ENSP00000423199:V510I	ENSP00000261367:V510I	V	+	1	0	SNCAIP	121804313	0.914000	0.31030	0.113000	0.21522	0.163000	0.22366	1.397000	0.34543	1.339000	0.45563	0.655000	0.94253	GTA		0.418	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
SNX2	6643	broad.mit.edu	37	5	122163289	122163289	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:122163289T>G	ENST00000379516.2	+	14	1565	c.1457T>G	c.(1456-1458)tTt>tGt	p.F486C	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.F369C	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	486					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.F486C(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GTGAAGGATTTTAAAACCGTT	0.308																																					p.F486C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1457G	5						.						83.0	87.0	86.0					5																	122163289		2203	4300	6503	122191188	SO:0001583	missense	6643	exon14			AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1457T>G	5.37:g.122163289T>G	ENSP00000368831:p.Phe486Cys		122191188	NM_003100	B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460563	0.84317	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.43294	0.95;0.95	5.59	5.59	0.84812	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	M	0.90369	3.11	0.80722	D	1	P	0.40660	0.726	P	0.49665	0.618	T	0.72027	-0.4414	10	0.87932	D	0	-0.0691	16.0576	0.80816	0.0:0.0:0.0:1.0	.	486	O60749	SNX2_HUMAN	C	486;369	ENSP00000368831:F486C;ENSP00000421663:F369C	ENSP00000368831:F486C	F	+	2	0	SNX2	122191188	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.972000	0.88022	2.245000	0.73994	0.454000	0.30748	TTT		0.308	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100	
CEP120	153241	broad.mit.edu	37	5	122714086	122714086	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:122714086T>A	ENST00000306467.5	-	15	2444	c.2140A>T	c.(2140-2142)Aaa>Taa	p.K714*	CEP120_ENST00000328236.5_Nonsense_Mutation_p.K714*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.K688*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	714					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K714*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATTAGAGTTTTTTGAAGTTTT	0.348																																					p.K688X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A2062T	5						.						99.0	105.0	103.0					5																	122714086		2203	4300	6503	122741985	SO:0001587	stop_gained	153241	exon15			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2140A>T	5.37:g.122714086T>A	ENSP00000303058:p.Lys714*		122741985	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	40	8.101309	0.98654	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	.	.	.	5.8	4.62	0.57501	.	0.094329	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.4962	13.2867	0.60247	0.0:0.0:0.1319:0.8681	.	.	.	.	X	714;714;688;688	.	ENSP00000303058:K714X	K	-	1	0	CEP120	122741985	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.703000	0.54808	0.990000	0.38787	0.460000	0.39030	AAA		0.348	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
CSNK1G3	1456	broad.mit.edu	37	5	122911482	122911482	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:122911482G>T	ENST00000361991.2	+	5	528	c.498G>T	c.(496-498)gaG>gaT	p.E166D	CSNK1G3_ENST00000521364.1_Missense_Mutation_p.E166D|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.E166D|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.E166D|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.E166D|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.E166D|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.E53D|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.E91D|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.E166D			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E166D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TAAAACCTGAGAACTTCTTAA	0.343																																					p.E166D	Pancreas(187;2868 2964 4353 6297)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G498T	5						.						70.0	71.0	70.0					5																	122911482		2203	4300	6503	122939381	SO:0001583	missense	1456	exon6			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.498G>T	5.37:g.122911482G>T	ENSP00000354942:p.Glu166Asp		122939381	NM_001044723	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	ENST00000361991.2	37	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587757	0.28268	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000511130;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.15696	0.0378	N	0.04636	-0.2	0.53005	D	0.999961	D;P;D;B;D;P	0.61697	0.99;0.868;0.99;0.351;0.97;0.6	P;P;P;B;P;B	0.62649	0.905;0.732;0.905;0.237;0.865;0.407	T	0.17107	-1.0380	10	0.02654	T	1	.	9.4185	0.38536	0.1636:0.0:0.8364:0.0	.	91;166;53;166;166;166	B4DSH2;A8K040;E7EVD0;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;.;KC1G3_HUMAN;.	D	166;166;166;53;91;166;166;166;166	ENSP00000378807:E166D;ENSP00000378806:E166D;ENSP00000334735:E166D;ENSP00000421385:E53D;ENSP00000421998:E91D;ENSP00000429412:E166D;ENSP00000423838:E166D;ENSP00000354942:E166D;ENSP00000353904:E166D	ENSP00000334735:E166D	E	+	3	2	CSNK1G3	122939381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.885000	0.28227	2.620000	0.88729	0.650000	0.86243	GAG		0.343	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	
ZNF608	57507	broad.mit.edu	37	5	124036833	124036833	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:124036833G>A	ENST00000306315.5	-	2	1471	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	346							metal ion binding (GO:0046872)	p.R346W(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAACGAGTCCGAACCAAAAGC	0.512																																					p.R346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	5						.						145.0	132.0	136.0					5																	124036833		2203	4300	6503	124064732	SO:0001583	missense	57507	exon2			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1036C>T	5.37:g.124036833G>A	ENSP00000307746:p.Arg346Trp		124064732	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526544	0.85600	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.53423	0.62	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.61223	0.2330	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.62599	-0.6820	10	0.87932	D	0	-20.0531	20.3539	0.98825	0.0:0.0:1.0:0.0	.	346	Q9ULD9	ZN608_HUMAN	W	346	ENSP00000307746:R346W	ENSP00000307746:R346W	R	-	1	2	ZNF608	124064732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.397000	0.59690	2.826000	0.97356	0.655000	0.94253	CGG		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
ZNF608	57507	broad.mit.edu	37	5	124036927	124036927	+	Silent	SNP	C	C	T	rs144167141		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:124036927C>T	ENST00000306315.5	-	2	1377	c.942G>A	c.(940-942)ccG>ccA	p.P314P	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	314	Poly-Pro.						metal ion binding (GO:0046872)	p.P314P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGAAATCGGCGGTGGTGGCG	0.502																																					p.P314P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	5						.						121.0	121.0	121.0					5																	124036927		2203	4300	6503	124064826	SO:0001819	synonymous_variant	57507	exon2			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.942G>A	5.37:g.124036927C>T			124064826	NM_020747	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	CCDS34219.1																																																																																				0.502	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432	
ALDH7A1	501	broad.mit.edu	37	5	125882022	125882022	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:125882022G>A	ENST00000409134.3	-	17	1778	c.1559C>T	c.(1558-1560)tCt>tTt	p.S520F	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.S456F|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.S483F	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	520					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.S492F(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TTACCAAGTAGACCTTCTCAT	0.438																																					p.S520F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559T	5						.						141.0	133.0	136.0					5																	125882022		2203	4300	6503	125909921	SO:0001583	missense	501	exon17			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1559C>T	5.37:g.125882022G>A	ENSP00000387123:p.Ser520Phe		125909921	NM_001182	B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137669	0.77775	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	D;D;D	0.90788	-2.73;-2.73;-2.73	4.12	4.12	0.48240	Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.88775	2.98	0.58432	D	0.999992	D;D	0.89917	0.999;1.0	D;D	0.91635	0.982;0.999	D	0.96599	0.9443	10	0.66056	D	0.02	.	16.4811	0.84158	0.0:0.0:1.0:0.0	.	483;520	E7EPT3;P49419	.;AL7A1_HUMAN	F	520;456;483;328	ENSP00000387123:S520F;ENSP00000448593:S456F;ENSP00000414132:S483F	ENSP00000387123:S520F	S	-	2	0	ALDH7A1	125909921	1.000000	0.71417	0.926000	0.36857	0.893000	0.52053	9.123000	0.94387	2.285000	0.76669	0.313000	0.20887	TCT		0.438	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182	
LMNB1	4001	broad.mit.edu	37	5	126154684	126154684	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:126154684G>A	ENST00000261366.5	+	6	1371	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	LMNB1_ENST00000395354.1_Missense_Mutation_p.R337H|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	337	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.R337H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AACTCTCGTCGCATGCTGACA	0.403																																					p.R337H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	5						.						114.0	113.0	113.0					5																	126154684		2203	4300	6503	126182583	SO:0001583	missense	4001	exon6			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.1010G>A	5.37:g.126154684G>A	ENSP00000261366:p.Arg337His		126182583	NM_005573	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181669	0.57800	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.89123	-2.47;-2.47	5.74	2.85	0.33270	Filament (1);	0.296362	0.35555	N	0.003139	D	0.84401	0.5464	M	0.67397	2.05	0.49130	D	0.999759	B	0.30482	0.281	B	0.29942	0.109	T	0.82110	-0.0619	10	0.52906	T	0.07	.	4.4832	0.11776	0.2698:0.0:0.5645:0.1657	.	337	P20700	LMNB1_HUMAN	H	337	ENSP00000261366:R337H;ENSP00000378761:R337H	ENSP00000261366:R337H	R	+	2	0	LMNB1	126182583	0.860000	0.29831	1.000000	0.80357	0.986000	0.74619	1.506000	0.35747	1.576000	0.49790	0.563000	0.77884	CGC		0.403	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573	
SLC12A2	6558	broad.mit.edu	37	5	127448600	127448600	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127448600A>C	ENST00000262461.2	+	2	1040	c.851A>C	c.(850-852)aAg>aCg	p.K284T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.K284T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	284					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.K284T(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GGAGTCGTGAAGTTTGGCTGG	0.388																																					p.K284T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A851C	5						.						126.0	122.0	123.0					5																	127448600		2203	4300	6503	127476499	SO:0001583	missense	6558	exon2				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.851A>C	5.37:g.127448600A>C	ENSP00000262461:p.Lys284Thr		127476499	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933186	0.73442	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.89617	-2.52;-2.54	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	D	0.96969	0.9707	10	0.87932	D	0	.	13.7851	0.63105	1.0:0.0:0.0:0.0	.	284;284	P55011-3;P55011	.;S12A2_HUMAN	T	284	ENSP00000262461:K284T;ENSP00000340878:K284T	ENSP00000262461:K284T	K	+	2	0	SLC12A2	127476499	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.543000	0.73874	2.137000	0.66172	0.455000	0.32223	AAG		0.388	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
SLC12A2	6558	broad.mit.edu	37	5	127469897	127469897	+	Missense_Mutation	SNP	G	G	A	rs537215758		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127469897G>A	ENST00000262461.2	+	6	1418	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R410Q	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	410					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.R410Q(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	AATGATATCCGAATTATTGGA	0.318													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17901	0.0		0.0	False		,,,				2504	0.0				p.R410Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1229A	5						.						146.0	158.0	154.0					5																	127469897		2203	4300	6503	127497796	SO:0001583	missense	6558	exon6				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1229G>A	5.37:g.127469897G>A	ENSP00000262461:p.Arg410Gln		127497796	NM_001046	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516799	0.96402	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86769	-2.17;-2.17	4.94	4.94	0.65067	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94908	0.8062	10	0.87932	D	0	.	18.3647	0.90386	0.0:0.0:1.0:0.0	.	410;410	P55011-3;P55011	.;S12A2_HUMAN	Q	410	ENSP00000262461:R410Q;ENSP00000340878:R410Q	ENSP00000262461:R410Q	R	+	2	0	SLC12A2	127497796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.232000	0.95325	2.591000	0.87537	0.655000	0.94253	CGA		0.318	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	broad.mit.edu	37	5	127636561	127636561	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127636561G>T	ENST00000508053.1	-	54	7088	c.6114C>A	c.(6112-6114)tcC>tcA	p.S2038S	FBN2_ENST00000262464.4_Silent_p.S2038S			P35556	FBN2_HUMAN	fibrillin 2	2038	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S2038S(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCATCTGAAGGATCCCTCCA	0.418																																					p.S2038S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6114A	5						.						93.0	91.0	92.0					5																	127636561		2203	4300	6503	127664460	SO:0001819	synonymous_variant	2201	exon48			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6114C>A	5.37:g.127636561G>T			127664460	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127640772	127640772	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127640772G>A	ENST00000508053.1	-	51	6651	c.5677C>T	c.(5677-5679)Cgc>Tgc	p.R1893C	FBN2_ENST00000262464.4_Missense_Mutation_p.R1893C			P35556	FBN2_HUMAN	fibrillin 2	1893	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1893C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATTCATTGCGATCTAAAACA	0.323																																					p.R1893C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5677T	5						.						64.0	54.0	58.0					5																	127640772		2203	4300	6503	127668671	SO:0001583	missense	2201	exon45			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5677C>T	5.37:g.127640772G>A	ENSP00000424571:p.Arg1893Cys		127668671	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129563	0.77549	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91945	-2.94;-2.94	5.03	4.14	0.48551	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000032	D	0.94460	0.8217	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.68765	0.96	D	0.93877	0.7167	10	0.49607	T	0.09	.	14.0176	0.64533	0.0744:0.0:0.9256:0.0	.	1893	P35556	FBN2_HUMAN	C	1893	ENSP00000262464:R1893C;ENSP00000424571:R1893C	ENSP00000262464:R1893C	R	-	1	0	FBN2	127668671	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.601000	0.98297	2.619000	0.88677	0.467000	0.42956	CGC		0.323	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127668692	127668692	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127668692G>A	ENST00000508053.1	-	38	5108	c.4134C>T	c.(4132-4134)tgC>tgT	p.C1378C	FBN2_ENST00000262464.4_Silent_p.C1378C|FBN2_ENST00000507835.1_Silent_p.C228C|FBN2_ENST00000508989.1_Silent_p.C1345C			P35556	FBN2_HUMAN	fibrillin 2	1378	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1378C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGCATGTCGCAGTTATGAG	0.383																																					p.C1378C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4134T	5						.						156.0	140.0	146.0					5																	127668692		2203	4300	6503	127696591	SO:0001819	synonymous_variant	2201	exon32			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4134C>T	5.37:g.127668692G>A			127696591	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.383	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Missense_Mutation	SNP	C	C	T	rs200060005		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127674667C>T	ENST00000508053.1	-	32	4404	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	FBN2_ENST00000262464.4_Missense_Mutation_p.E1144K|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.E1111K			P35556	FBN2_HUMAN	fibrillin 2	1144	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1144K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507																																					p.E1144K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3430A	5						.						106.0	85.0	92.0					5																	127674667		2203	4300	6503	127702566	SO:0001583	missense	2201	exon26			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3430G>A	5.37:g.127674667C>T	ENSP00000424571:p.Glu1144Lys		127702566	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818681	0.71028	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92348	-3.02;-3.02;-3.02	5.13	4.25	0.50352	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.496860	0.21340	N	0.076149	D	0.87354	0.6156	L	0.28649	0.875	0.54753	D	0.999984	P;P	0.44478	0.836;0.799	B;B	0.40782	0.34;0.298	D	0.85726	0.1328	10	0.27785	T	0.31	.	16.2378	0.82389	0.0:0.8672:0.1328:0.0	.	1111;1144	D6RJI3;P35556	.;FBN2_HUMAN	K	1144;1144;1111	ENSP00000262464:E1144K;ENSP00000424571:E1144K;ENSP00000425596:E1111K	ENSP00000262464:E1144K	E	-	1	0	FBN2	127702566	0.989000	0.36119	1.000000	0.80357	0.972000	0.66771	2.420000	0.44679	1.491000	0.48482	0.585000	0.79938	GAA		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
FBN2	2201	broad.mit.edu	37	5	127855016	127855016	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:127855016G>T	ENST00000508053.1	-	11	1552	c.578C>A	c.(577-579)cCc>cAc	p.P193H	FBN2_ENST00000262464.4_Missense_Mutation_p.P193H|FBN2_ENST00000508989.1_Missense_Mutation_p.P160H			P35556	FBN2_HUMAN	fibrillin 2	193	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.			GPNR -> AQP (in Ref. 1; AAA18950). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P193H(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAGCGGTTGGGTCCGATGCA	0.408																																					p.P193H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C578A	5						.						83.0	77.0	79.0					5																	127855016		2203	4300	6503	127882915	SO:0001583	missense	2201	exon5			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.578C>A	5.37:g.127855016G>T	ENSP00000424571:p.Pro193His		127882915	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739395	0.89573	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.91631	-2.88;-2.88;-2.88;1.82	5.17	5.17	0.71159	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.96160	0.8748	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	D	0.95469	0.8550	10	0.48119	T	0.1	.	18.8636	0.92282	0.0:0.0:1.0:0.0	.	160;193;160;193	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	193;193;160;193	ENSP00000262464:P193H;ENSP00000424571:P193H;ENSP00000425596:P160H;ENSP00000424753:P193H	ENSP00000262464:P193H	P	-	2	0	FBN2	127882915	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	9.529000	0.98049	2.861000	0.98227	0.655000	0.94253	CCC		0.408	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
SLC27A6	28965	broad.mit.edu	37	5	128302114	128302114	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:128302114T>C	ENST00000262462.4	+	1	1294	c.284T>C	c.(283-285)gTc>gCc	p.V95A	SLC27A6_ENST00000506176.1_Missense_Mutation_p.V95A|SLC27A6_ENST00000395266.1_Missense_Mutation_p.V95A			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	95					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.V95A(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGGCCCATGTCTTCCTGAAC	0.517																																					p.V95A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T284C	5						.						94.0	84.0	87.0					5																	128302114		2203	4300	6503	128330013	SO:0001583	missense	28965	exon1			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.284T>C	5.37:g.128302114T>C	ENSP00000262462:p.Val95Ala		128330013	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	T	0.300	-0.974681	0.02215	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.37915	1.17;1.17;1.17	4.31	0.703	0.18116	AMP-dependent synthetase/ligase (1);	0.247257	0.40144	N	0.001175	T	0.16085	0.0387	N	0.11698	0.16	0.20196	N	0.999929	B	0.02656	0.0	B	0.11329	0.006	T	0.28170	-1.0052	10	0.12103	T	0.63	-7.4172	8.1536	0.31156	0.0:0.2466:0.0:0.7534	.	95	Q9Y2P4	S27A6_HUMAN	A	95	ENSP00000262462:V95A;ENSP00000378684:V95A;ENSP00000421024:V95A	ENSP00000262462:V95A	V	+	2	0	SLC27A6	128330013	0.945000	0.32115	0.014000	0.15608	0.877000	0.50540	1.091000	0.30915	0.124000	0.18369	0.528000	0.53228	GTC		0.517	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
SLC27A6	28965	broad.mit.edu	37	5	128368967	128368967	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:128368967A>C	ENST00000262462.4	+	10	2862	c.1852A>C	c.(1852-1854)Aaa>Caa	p.K618Q	SLC27A6_ENST00000506176.1_Missense_Mutation_p.K618Q|SLC27A6_ENST00000395266.1_Missense_Mutation_p.K618Q			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	618				K -> N (in Ref. 3; CAG33410). {ECO:0000305}.	long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K618Q(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGGGAAATAAAACTTTAAGA	0.328																																					p.K618Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1852C	5						.						32.0	34.0	33.0					5																	128368967		2202	4289	6491	128396866	SO:0001583	missense	28965	exon10			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1852A>C	5.37:g.128368967A>C	ENSP00000262462:p.Lys618Gln		128396866	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970562	0.53614	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.58060	0.36;0.36;0.36	4.03	4.03	0.46877	.	0.177671	0.48767	D	0.000171	T	0.74427	0.3715	M	0.88241	2.94	0.48341	D	0.999637	D	0.62365	0.991	D	0.68353	0.957	T	0.79883	-0.1615	9	.	.	.	-0.1447	13.6642	0.62384	1.0:0.0:0.0:0.0	.	618	Q9Y2P4	S27A6_HUMAN	Q	618	ENSP00000262462:K618Q;ENSP00000378684:K618Q;ENSP00000421024:K618Q	.	K	+	1	0	SLC27A6	128396866	1.000000	0.71417	0.747000	0.31113	0.275000	0.26752	5.846000	0.69444	2.053000	0.61076	0.477000	0.44152	AAA		0.328	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
ADAMTS19	171019	broad.mit.edu	37	5	128956447	128956447	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:128956447C>T	ENST00000274487.4	+	9	1742	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	533	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L533F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAAAGATTTCTCAGGTATGG	0.403																																					p.L533F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1597T	5						.						214.0	205.0	208.0					5																	128956447		2203	4300	6503	128984346	SO:0001583	missense	171019	exon9			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1597C>T	5.37:g.128956447C>T	ENSP00000274487:p.Leu533Phe		128984346	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563184	0.86335	.	.	ENSG00000145808	ENST00000274487	D	0.89196	-2.48	4.51	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000010	D	0.92880	0.7735	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91831	0.5475	9	.	.	.	.	18.5315	0.90993	0.0:1.0:0.0:0.0	.	533	Q8TE59	ATS19_HUMAN	F	533	ENSP00000274487:L533F	.	L	+	1	0	ADAMTS19	128984346	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.625000	0.74248	2.783000	0.95769	0.655000	0.94253	CTC		0.403	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ADAMTS19	171019	broad.mit.edu	37	5	128957941	128957941	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:128957941C>A	ENST00000274487.4	+	10	1797	c.1652C>A	c.(1651-1653)tCt>tAt	p.S551Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	551	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S551Y(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTGTCAATTCTGTGATGGTT	0.443																																					p.S551Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1652A	5						.						151.0	132.0	138.0					5																	128957941		2203	4300	6503	128985840	SO:0001583	missense	171019	exon10			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1652C>A	5.37:g.128957941C>A	ENSP00000274487:p.Ser551Tyr		128985840	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634409	0.87660	.	.	ENSG00000145808	ENST00000274487	T	0.66280	-0.2	4.42	4.42	0.53409	Metallopeptidase, catalytic domain (1);	0.283303	0.30791	N	0.008869	T	0.66336	0.2779	L	0.35723	1.085	0.58432	D	0.999999	D	0.64830	0.994	P	0.56278	0.795	T	0.63712	-0.6575	9	.	.	.	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	551	Q8TE59	ATS19_HUMAN	Y	551	ENSP00000274487:S551Y	.	S	+	2	0	ADAMTS19	128985840	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.059000	0.49947	2.741000	0.93983	0.585000	0.79938	TCT		0.443	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ADAMTS19	171019	broad.mit.edu	37	5	129030517	129030517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:129030517C>T	ENST00000274487.4	+	19	3050	c.2905C>T	c.(2905-2907)Cga>Tga	p.R969*	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	969	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R969*(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCACAGATTCGAAAGTGCAA	0.393																																					p.R969X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)	c.C2905T	5						.						161.0	149.0	153.0					5																	129030517		2203	4300	6503	129058416	SO:0001587	stop_gained	171019	exon19			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2905C>T	5.37:g.129030517C>T	ENSP00000274487:p.Arg969*		129058416	NM_133638		Nonsense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	42	9.563879	0.99205	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.08	4.08	0.47627	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.596	0.88012	0.0:1.0:0.0:0.0	.	.	.	.	X	969	.	.	R	+	1	2	ADAMTS19	129058416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.216000	0.42871	2.566000	0.86566	0.555000	0.69702	CGA		0.393	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
CDC42SE2	56990	broad.mit.edu	37	5	130726736	130726736	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:130726736A>C	ENST00000505065.1	+	5	728	c.207A>C	c.(205-207)ggA>ggC	p.G69G	CDC42SE2_ENST00000360515.3_Silent_p.G69G|CDC42SE2_ENST00000395246.1_Silent_p.G69G|CDC42SE2_ENST00000503291.1_Silent_p.G42G			Q9NRR3	C42S2_HUMAN	CDC42 small effector 2	69					phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|regulation of signal transduction (GO:0009966)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G69G(1)		breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGAGGTGGAATGCCTGCCA	0.498																																					p.G69G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A207C	5						.						128.0	117.0	121.0					5																	130726736		2203	4300	6503	130754635	SO:0001819	synonymous_variant	56990	exon4			AF189692	CCDS34224.1	5q31.1	2008-02-05				ENSG00000158985			18547	protein-coding gene	gene with protein product						10816584	Standard	NM_020240		Approved	FLJ21967, SPEC2	uc003kvj.3	Q9NRR3		ENST00000505065.1:c.207A>C	5.37:g.130726736A>C			130754635	NM_001038702	B2R622|Q4KMT9	Silent	SNP	ENST00000505065.1	37	CCDS34224.1																																																																																				0.498	CDC42SE2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370104.1	NM_020240	
RAPGEF6	51735	broad.mit.edu	37	5	130766761	130766761	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:130766761C>A	ENST00000509018.1	-	26	4461	c.4256G>T	c.(4255-4257)aGa>aTa	p.R1419I	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1427I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1427I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1469I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1432I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1419	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.R1432I(1)|p.R1419I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CCCACAAGTTCTAGAGCAGCT	0.448																																					p.R1432I	Melanoma(168;435 1955 13113 13877 23213)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4295T	5						.						116.0	118.0	118.0					5																	130766761		2203	4300	6503	130794660	SO:0001583	missense	51735	exon28			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4256G>T	5.37:g.130766761C>A	ENSP00000421684:p.Arg1419Ile		130794660	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475612	0.43942	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26660	1.83;1.72;1.72;1.83;1.92	5.11	4.19	0.49359	.	0.240155	0.40469	N	0.001093	T	0.20251	0.0487	L	0.44542	1.39	0.80722	D	1	B;B;B;B;B	0.27264	0.097;0.105;0.173;0.156;0.059	B;B;B;B;B	0.28385	0.049;0.041;0.027;0.089;0.041	T	0.06826	-1.0805	10	0.52906	T	0.07	.	6.4294	0.21788	0.161:0.6834:0.0:0.1556	.	1427;1427;1469;1432;1419	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	I	1419;1432;1427;1427;1432;1469	ENSP00000421684:R1419I;ENSP00000309298:R1432I;ENSP00000426081:R1427I;ENSP00000296859:R1427I;ENSP00000426948:R1469I	ENSP00000426948:R1469I	R	-	2	0	RAPGEF6;FNIP1	130794660	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.716000	0.37981	2.552000	0.86080	0.655000	0.94253	AGA		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
RAPGEF6	51735	broad.mit.edu	37	5	130788805	130788805	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:130788805G>A	ENST00000509018.1	-	21	3347	c.3142C>T	c.(3142-3144)Cgc>Tgc	p.R1048C	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1048C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1048C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1098C|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R763C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1053C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R1048C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1048	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.R1098C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAACTTGGCGGATTTCCTTG	0.343																																					p.R1053C	Melanoma(168;435 1955 13113 13877 23213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3157T	5						.						103.0	103.0	103.0					5																	130788805		2203	4300	6503	130816704	SO:0001583	missense	51735	exon22			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3142C>T	5.37:g.130788805G>A	ENSP00000421684:p.Arg1048Cys		130816704	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110806	0.77210	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.973;0.999;0.999;0.999;1.0;0.999	T	0.77943	-0.2398	10	0.87932	D	0	.	18.5281	0.90980	0.0:0.0:1.0:0.0	.	1048;1048;1048;763;1098;1053;1048	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	C	1048;1053;1048;1048;1053;763;1048;1098	ENSP00000421684:R1048C;ENSP00000309298:R1053C;ENSP00000426081:R1048C;ENSP00000296859:R1048C;ENSP00000426910:R763C;ENSP00000311419:R1048C;ENSP00000426948:R1098C	ENSP00000426948:R1098C	R	-	1	0	RAPGEF6;FNIP1	130816704	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	6.393000	0.73217	2.460000	0.83146	0.467000	0.42956	CGC		0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
FNIP1	96459	broad.mit.edu	37	5	131008399	131008399	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131008399C>T	ENST00000510461.1	-	14	1833	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	FNIP1_ENST00000307954.8_Missense_Mutation_p.E535K|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.E552K	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	580					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E580K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TACTCTGATTCTTCTATTTCA	0.353																																					p.E580K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1738A	5						.						164.0	154.0	157.0					5																	131008399		2203	4300	6503	131036298	SO:0001583	missense	96459	exon14			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1738G>A	5.37:g.131008399C>T	ENSP00000421985:p.Glu580Lys		131036298	NM_133372	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614732	0.87359	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14022	2.54;2.54;2.54	5.83	5.83	0.93111	.	.	.	.	.	T	0.40398	0.1115	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.992	D;D;D	0.80764	0.994;0.994;0.936	T	0.05869	-1.0859	9	0.59425	D	0.04	-11.0845	20.126	0.97982	0.0:1.0:0.0:0.0	.	580;552;580	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	K	552;535;340;580	ENSP00000309266:E552K;ENSP00000310453:E535K;ENSP00000421985:E580K	ENSP00000310453:E535K	E	-	1	0	FNIP1	131036298	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	GAA		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
ACSL6	23305	broad.mit.edu	37	5	131305833	131305833	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131305833C>A	ENST00000379240.1	-	15	1573	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	ACSL6_ENST00000379244.1_Missense_Mutation_p.D474Y|ACSL6_ENST00000544770.1_Missense_Mutation_p.D383Y|ACSL6_ENST00000379264.2_Missense_Mutation_p.D499Y|ACSL6_ENST00000357096.1_Missense_Mutation_p.D399Y|ACSL6_ENST00000431707.1_Missense_Mutation_p.D454Y|ACSL6_ENST00000543479.1_Missense_Mutation_p.D474Y|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000296869.4_Missense_Mutation_p.D499Y|ACSL6_ENST00000379272.2_Missense_Mutation_p.D489Y|ACSL6_ENST00000379255.1_Missense_Mutation_p.D399Y|ACSL6_ENST00000379249.3_Missense_Mutation_p.D474Y|ACSL6_ENST00000379246.1_Missense_Mutation_p.D485Y			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	474					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.D499Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGTCCAGTCGCCAGGAGTG	0.498																																					p.D499Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1495T	5						.						171.0	150.0	157.0					5																	131305833		2203	4300	6503	131333732	SO:0001583	missense	23305	exon15			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1420G>T	5.37:g.131305833C>A	ENSP00000368542:p.Asp474Tyr		131333732	NM_001009185	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37		.	.	.	.	.	.	.	.	.	.	C	25.8	4.674750	0.88445	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.42	5.42	0.78866	AMP-dependent synthetase/ligase (1);	0.089346	0.85682	D	0.000000	T	0.73410	0.3583	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.994;0.997;0.999;0.997;0.997;0.997;0.997	T	0.79458	-0.1795	10	0.66056	D	0.02	.	19.2739	0.94023	0.0:1.0:0.0:0.0	.	474;489;464;474;399;499;499	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	Y	474;499;489;399;399;499;485;474;383;474;454;474	ENSP00000368551:D474Y;ENSP00000368566:D499Y;ENSP00000368574:D489Y;ENSP00000349608:D399Y;ENSP00000368557:D399Y;ENSP00000296869:D499Y;ENSP00000368548:D485Y;ENSP00000368546:D474Y;ENSP00000445154:D383Y;ENSP00000368542:D474Y;ENSP00000413329:D454Y;ENSP00000442124:D474Y	ENSP00000296869:D499Y	D	-	1	0	ACSL6	131333732	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.792000	0.85828	2.575000	0.86900	0.644000	0.83932	GAC		0.498	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256	
SLC22A5	6584	broad.mit.edu	37	5	131728297	131728297	+	Silent	SNP	C	C	T	rs150457229		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131728297C>T	ENST00000245407.3	+	8	1661	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	SLC22A5_ENST00000479605.1_3'UTR|SLC22A5_ENST00000435065.2_Silent_p.F504F	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	480					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)	p.F480F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTCCCTACTTCGTTTACCTTG	0.542																																					p.F480F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1440T	5						.	C		0,4406		0,0,2203	133.0	97.0	109.0		1440	-7.5	0.0	5	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC22A5	NM_003060.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		480/558	131728297	2,13004	2203	4300	6503	131756196	SO:0001819	synonymous_variant	6584	exon8			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1440C>T	5.37:g.131728297C>T			131756196	NM_003060	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Silent	SNP	ENST00000245407.3	37	CCDS4154.1																																																																																				0.542	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060	
RAD50	10111	broad.mit.edu	37	5	131893077	131893077	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131893077G>T	ENST00000265335.6	+	1	448	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	21					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.D21Y(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGACAAAGATAAGCAAAT	0.483								Homologous recombination																													p.D21Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61T	5						.						123.0	130.0	128.0					5																	131893077		2203	4300	6503	131920976	SO:0001583	missense	10111	exon1			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.61G>T	5.37:g.131893077G>T	ENSP00000265335:p.Asp21Tyr		131920976	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693958	0.88735	.	.	ENSG00000113522	ENST00000265335;ENST00000453394	T;T	0.08984	3.03;3.03	5.72	5.72	0.89469	.	0.043031	0.85682	D	0.000000	T	0.23014	0.0556	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.00090	-1.2087	10	0.72032	D	0.01	-22.7513	10.7592	0.46256	0.0861:0.0:0.9139:0.0	.	21	Q92878	RAD50_HUMAN	Y	21	ENSP00000265335:D21Y;ENSP00000400049:D21Y	ENSP00000265335:D21Y	D	+	1	0	RAD50	131920976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.418000	0.80167	2.700000	0.92200	0.655000	0.94253	GAT		0.483	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
RAD50	10111	broad.mit.edu	37	5	131915128	131915128	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131915128C>A	ENST00000265335.6	+	4	872	c.485C>A	c.(484-486)tCt>tAt	p.S162Y	RAD50_ENST00000378823.3_Missense_Mutation_p.S23Y			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	162					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.S23Y(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGAAGATTCTAATTGGCCT	0.373								Homologous recombination																													p.S162Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	5						.						101.0	107.0	105.0					5																	131915128		2203	4300	6503	131943027	SO:0001583	missense	10111	exon4			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.485C>A	5.37:g.131915128C>A	ENSP00000265335:p.Ser162Tyr		131943027	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662414	0.88251	.	.	ENSG00000113522	ENST00000416135;ENST00000378823;ENST00000265335;ENST00000453394	T;T;T;T	0.27256	1.68;2.77;3.01;3.01	5.69	5.69	0.88448	.	0.098303	0.64402	D	0.000001	T	0.61261	0.2333	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68708	-0.5337	10	0.87932	D	0	-7.7968	18.8012	0.92018	0.0:1.0:0.0:0.0	.	162	Q92878	RAD50_HUMAN	Y	63;23;162;162	ENSP00000389515:S63Y;ENSP00000368100:S23Y;ENSP00000265335:S162Y;ENSP00000400049:S162Y	ENSP00000265335:S162Y	S	+	2	0	RAD50	131943027	1.000000	0.71417	0.962000	0.40283	0.990000	0.78478	7.818000	0.86416	2.683000	0.91414	0.591000	0.81541	TCT		0.373	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
RAD50	10111	broad.mit.edu	37	5	131915579	131915579	+	Missense_Mutation	SNP	C	C	T	rs28903087	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131915579C>T	ENST00000265335.6	+	5	964	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Missense_Mutation_p.R54W			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	193			R -> W (in dbSNP:rs28903087).		cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.R54W(1)|p.R193W(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAAACACTTCGGCAGGTACG	0.313								Homologous recombination																													p.R193W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C577T	5						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	65.0	65.0		577	4.7	1.0	5	dbSNP_125	65	0,8598		0,0,4299	no	missense	RAD50	NM_005732.3	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	193/1313	131915579	1,13003	2203	4299	6502	131943478	SO:0001583	missense	10111	exon5			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.577C>T	5.37:g.131915579C>T	ENSP00000265335:p.Arg193Trp		131943478	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128635	0.77549	2.27E-4	0.0	ENSG00000113522	ENST00000416135;ENST00000378823;ENST00000265335;ENST00000453394	T;T;T;T	0.24723	1.84;3.34;3.06;3.06	5.54	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.54029	-0.8354	10	0.72032	D	0.01	-11.4505	12.943	0.58357	0.2946:0.7054:0.0:0.0	rs28903087;rs28903087	193	Q92878	RAD50_HUMAN	W	94;54;193;193	ENSP00000389515:R94W;ENSP00000368100:R54W;ENSP00000265335:R193W;ENSP00000400049:R193W	ENSP00000265335:R193W	R	+	1	2	RAD50	131943478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.498000	0.60373	1.443000	0.47586	0.655000	0.94253	CGG		0.313	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
RAD50	10111	broad.mit.edu	37	5	131925514	131925514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:131925514G>T	ENST00000265335.6	+	9	1824	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	RAD50_ENST00000378823.3_Missense_Mutation_p.Q340H			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	479					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.Q479H(1)|p.Q340H(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGGACCAGGAGCTCATAA	0.303								Homologous recombination																													p.Q479H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1437T	5						.						76.0	76.0	76.0					5																	131925514		2203	4299	6502	131953413	SO:0001583	missense	10111	exon9			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1437G>T	5.37:g.131925514G>T	ENSP00000265335:p.Gln479His		131953413	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226173	0.39300	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.08008	3.49;3.71;3.14	5.43	4.5	0.54988	.	0.442840	0.27600	N	0.018642	T	0.07234	0.0183	L	0.36672	1.1	0.34884	D	0.744901	B	0.29085	0.232	B	0.28139	0.086	T	0.10064	-1.0646	10	0.48119	T	0.1	-1.6933	8.0483	0.30562	0.0795:0.0:0.761:0.1595	.	479	Q92878	RAD50_HUMAN	H	340;479;479	ENSP00000368100:Q340H;ENSP00000265335:Q479H;ENSP00000400049:Q479H	ENSP00000265335:Q479H	Q	+	3	2	RAD50	131953413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.152000	0.31663	2.710000	0.92621	0.650000	0.86243	CAG		0.303	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
KIF3A	11127	broad.mit.edu	37	5	132038661	132038661	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132038661C>A	ENST00000378746.4	-	11	1700	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.E521D|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.E497D	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	494					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E494D(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAGAAGTTTCTCTTGTTCCT	0.423																																					p.E494D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1482T	5						.						196.0	194.0	195.0					5																	132038661		2203	4300	6503	132066560	SO:0001583	missense	11127	exon11			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1482G>T	5.37:g.132038661C>A	ENSP00000368020:p.Glu494Asp		132066560	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691818	0.68271	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.73897	-0.7;3.63;2.95;-0.79	6.17	1.32	0.21799	.	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.88640	2.97	0.54753	D	0.999989	P;P;P;P	0.52842	0.956;0.956;0.956;0.956	D;D;D;D	0.65010	0.931;0.931;0.931;0.931	T	0.83332	-0.0012	10	0.45353	T	0.12	.	10.9879	0.47532	0.0:0.5441:0.0:0.4559	.	521;521;494;520	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	D	494;497;521;22;521	ENSP00000368020:E494D;ENSP00000368009:E497D;ENSP00000405619:E22D;ENSP00000385808:E521D	ENSP00000368009:E497D	E	-	3	2	KIF3A	132066560	0.990000	0.36364	0.997000	0.53966	0.992000	0.81027	0.369000	0.20416	-0.041000	0.13558	-0.136000	0.14681	GAG		0.423	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
SHROOM1	134549	broad.mit.edu	37	5	132161019	132161019	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132161019C>T	ENST00000378679.3	-	4	1618	c.814G>A	c.(814-816)Gag>Aag	p.E272K	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Missense_Mutation_p.E272K|SHROOM1_ENST00000378676.1_Missense_Mutation_p.E272K	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	272					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.E272K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCCGACCTCGTGATCTTCA	0.657																																					p.E272K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	5						.						33.0	34.0	33.0					5																	132161019		2200	4300	6500	132188918	SO:0001583	missense	134549	exon1			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.814G>A	5.37:g.132161019C>T	ENSP00000367950:p.Glu272Lys		132188918	NM_133456	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184619	0.38609	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.27	-0.341	0.12639	.	0.522752	0.17233	N	0.181872	T	0.08846	0.0219	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.0	T	0.38286	-0.9668	10	0.02654	T	1	.	7.3771	0.26835	0.0:0.5331:0.2866:0.1803	.	272;272	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	K	272	ENSP00000367950:E272K;ENSP00000324245:E272K;ENSP00000367947:E272K;ENSP00000388049:E272K	ENSP00000324245:E272K	E	-	1	0	SHROOM1	132188918	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.025000	0.13577	-0.132000	0.11557	-0.216000	0.12614	GAG		0.657	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456	
AFF4	27125	broad.mit.edu	37	5	132232018	132232018	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132232018A>T	ENST00000265343.5	-	11	2683	c.2304T>A	c.(2302-2304)caT>caA	p.H768Q	AFF4_ENST00000378595.3_Missense_Mutation_p.H768Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	768					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H768Q(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAAACCTTATGCTTCCTCT	0.433																																					p.H768Q	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2304A	5						.						99.0	99.0	99.0					5																	132232018		2203	4300	6503	132259917	SO:0001583	missense	27125	exon11			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2304T>A	5.37:g.132232018A>T	ENSP00000265343:p.His768Gln		132259917	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230151	0.58777	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.65916	-0.18;-0.18	5.03	3.88	0.44766	.	0.103005	0.64402	D	0.000003	T	0.72708	0.3494	M	0.75777	2.31	0.51233	D	0.99991	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.992	T	0.69510	-0.5126	10	0.17832	T	0.49	-11.112	7.8157	0.29258	0.7572:0.0:0.2428:0.0	.	768;768	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	Q	768	ENSP00000265343:H768Q;ENSP00000367858:H768Q	ENSP00000265343:H768Q	H	-	3	2	AFF4	132259917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.898000	0.48672	0.874000	0.35823	0.533000	0.62120	CAT		0.433	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
AFF4	27125	broad.mit.edu	37	5	132232837	132232837	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132232837G>A	ENST00000265343.5	-	11	1864	c.1485C>T	c.(1483-1485)aaC>aaT	p.N495N	AFF4_ENST00000378595.3_Silent_p.N495N	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	495					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N495N(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGATGGGATGTTACTGTCCA	0.478																																					p.N495N	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1485T	5						.						167.0	164.0	165.0					5																	132232837		2203	4300	6503	132260736	SO:0001819	synonymous_variant	27125	exon11			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1485C>T	5.37:g.132232837G>A			132260736	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				0.478	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
AFF4	27125	broad.mit.edu	37	5	132238167	132238167	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132238167G>T	ENST00000265343.5	-	7	1479	c.1100C>A	c.(1099-1101)cCt>cAt	p.P367H	AFF4_ENST00000378595.3_Missense_Mutation_p.P367H|AFF4_ENST00000491831.1_5'Flank	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	367	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P367H(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTTTTAGAAGGATTATATCT	0.289																																					p.P367H	Ovarian(126;889 1733 2942 10745 11605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1100A	5						.						62.0	68.0	66.0					5																	132238167		2203	4300	6503	132266066	SO:0001583	missense	27125	exon7			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.1100C>A	5.37:g.132238167G>T	ENSP00000265343:p.Pro367His		132266066	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.99|19.99	3.927898|3.927898	0.73327|0.73327	.|.	.|.	ENSG00000072364|ENSG00000072364	ENST00000425658|ENST00000265343;ENST00000378595	.|T;T	.|0.65916	.|-0.18;-0.18	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.880807	.|0.10020	.|N	.|0.726076	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.66939|0.66939	2.045|2.045	0.42234|0.42234	D|D	0.991908|0.991908	.|D;P	.|0.60575	.|0.988;0.808	.|P;P	.|0.49528	.|0.614;0.529	T|T	0.74188|0.74188	-0.3746|-0.3746	5|10	.|0.66056	.|D	.|0.02	-5.6182|-5.6182	19.6101|19.6101	0.95602|0.95602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|367;367	.|Q9UHB7-2;Q9UHB7	.|.;AFF4_HUMAN	I|H	63|367	.|ENSP00000265343:P367H;ENSP00000367858:P367H	.|ENSP00000265343:P367H	L|P	-|-	1|2	0|0	AFF4|AFF4	132266066|132266066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.703000|0.703000	0.40648|0.40648	6.906000|6.906000	0.75719|0.75719	2.640000|2.640000	0.89533|0.89533	0.650000|0.650000	0.86243|0.86243	CTT|CCT		0.289	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
HSPA4	3308	broad.mit.edu	37	5	132412504	132412504	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132412504G>T	ENST00000304858.2	+	7	1111	c.822G>T	c.(820-822)aaG>aaT	p.K274N	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	274					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.K274N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAAACTCAAGAAATTGATGA	0.348																																					p.K274N	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G822T	5						.						115.0	115.0	115.0					5																	132412504		2203	4300	6503	132440403	SO:0001583	missense	3308	exon7			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.822G>T	5.37:g.132412504G>T	ENSP00000302961:p.Lys274Asn		132440403	NM_002154	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077690	0.76528	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.61040	0.14	5.52	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.87712	0.2567	10	0.87932	D	0	-13.987	12.5174	0.56040	0.1322:0.0:0.8678:0.0	.	274	P34932	HSP74_HUMAN	N	274	ENSP00000302961:K274N	ENSP00000302961:K274N	K	+	3	2	HSPA4	132440403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.905000	0.48727	2.748000	0.94277	0.591000	0.81541	AAG		0.348	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
HSPA4	3308	broad.mit.edu	37	5	132424177	132424177	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132424177A>C	ENST00000304858.2	+	9	1356	c.1067A>C	c.(1066-1068)aAa>aCa	p.K356T	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	356					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.K356T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGATCAGCAAATTTTTCGGT	0.358																																					p.K356T	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1067C	5						.						120.0	110.0	113.0					5																	132424177		2203	4300	6503	132452076	SO:0001583	missense	3308	exon9			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1067A>C	5.37:g.132424177A>C	ENSP00000302961:p.Lys356Thr		132452076	NM_002154	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366878	0.82463	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.31510	1.49	6.02	4.87	0.63330	.	0.126547	0.64402	D	0.000001	T	0.39937	0.1097	M	0.73430	2.235	0.58432	D	0.999994	B	0.24186	0.099	B	0.37015	0.239	T	0.32851	-0.9891	10	0.62326	D	0.03	-17.1424	9.109	0.36716	0.8611:0.0:0.1389:0.0	.	356	P34932	HSP74_HUMAN	T	356	ENSP00000302961:K356T	ENSP00000302961:K356T	K	+	2	0	HSPA4	132452076	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.625000	0.54238	1.111000	0.41721	0.528000	0.53228	AAA		0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
HSPA4	3308	broad.mit.edu	37	5	132439659	132439659	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:132439659A>G	ENST00000304858.2	+	18	2549	c.2260A>G	c.(2260-2262)Aag>Gag	p.K754E		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	754					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.K754E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGCAGAACAAGCAGAGTTT	0.363																																					p.K754E	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2260G	5						.						132.0	128.0	130.0					5																	132439659		2203	4300	6503	132467558	SO:0001583	missense	3308	exon18			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2260A>G	5.37:g.132439659A>G	ENSP00000302961:p.Lys754Glu		132467558	NM_002154	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880296	0.72294	.	.	ENSG00000170606	ENST00000304858	T	0.01323	5.01	5.87	5.87	0.94306	.	0.176798	0.64402	D	0.000010	T	0.02571	0.0078	M	0.71871	2.18	0.80722	D	1	P	0.37781	0.608	B	0.29862	0.108	T	0.58555	-0.7616	10	0.32370	T	0.25	-21.2343	16.2678	0.82600	1.0:0.0:0.0:0.0	.	754	P34932	HSP74_HUMAN	E	754	ENSP00000302961:K754E	ENSP00000302961:K754E	K	+	1	0	HSPA4	132467558	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.716000	0.91420	2.232000	0.73038	0.523000	0.50628	AAG		0.363	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:133473798G>A	ENST00000321584.4	+	4	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_ENST00000342854.5_Missense_Mutation_p.E164K|TCF7_ENST00000378560.4_Missense_Mutation_p.E49K|TCF7_ENST00000321603.6_Missense_Mutation_p.E164K|TCF7_ENST00000395029.1_Missense_Mutation_p.E164K|TCF7_ENST00000395023.1_Missense_Mutation_p.E49K|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000378564.1_Missense_Mutation_p.E164K|TCF7_ENST00000518915.1_Missense_Mutation_p.E49K|TCF7_ENST00000432532.2_Missense_Mutation_p.E49K|TCF7_ENST00000520958.1_Missense_Mutation_p.E49K			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	164					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E164K(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592																																					p.E164K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G490A	5						.						128.0	119.0	122.0					5																	133473798		2203	4300	6503	133501697	SO:0001583	missense	6932	exon4			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.490G>A	5.37:g.133473798G>A	ENSP00000326540:p.Glu164Lys		133501697	NM_003202	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37		.	.	.	.	.	.	.	.	.	.	G	18.57	3.653312	0.67472	.	.	ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000518887;ENST00000517851;ENST00000521639;ENST00000522375;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037	D;D;D;D;D;D;D;D;D;D;T	0.99282	-5.68;-5.65;-5.66;-5.67;-5.67;-5.59;-5.61;-5.64;-5.6;-5.64;0.7	4.52	4.52	0.55395	CTNNB1 binding, N-teminal (1);	0.313405	0.29280	N	0.012602	D	0.99214	0.9727	M	0.77616	2.38	0.42677	D	0.993534	P;D;D;B	0.76494	0.607;0.991;0.999;0.33	B;P;P;B	0.62740	0.086;0.689;0.906;0.049	D	0.99136	1.0854	10	0.87932	D	0	.	14.5747	0.68238	0.0:0.0:1.0:0.0	.	164;164;164;164	P36402-9;B7WNT5;P36402;P36402-5	.;.;TCF7_HUMAN;.	K	164;164;164;164;164;164;49;49;49;49;49;49;49;49;49;24	ENSP00000340347:E164K;ENSP00000326654:E164K;ENSP00000326540:E164K;ENSP00000367827:E164K;ENSP00000378472:E164K;ENSP00000367822:E49K;ENSP00000397946:E49K;ENSP00000429547:E49K;ENSP00000430179:E49K;ENSP00000378469:E49K;ENSP00000429696:E24K	ENSP00000326540:E164K	E	+	1	0	TCF7	133501697	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.586000	0.67503	2.346000	0.79739	0.557000	0.71058	GAA		0.592	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	
TCF7	6932	broad.mit.edu	37	5	133478466	133478466	+	Missense_Mutation	SNP	G	G	T	rs199840705		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:133478466G>T	ENST00000321584.4	+	7	1006	c.810G>T	c.(808-810)aaG>aaT	p.K270N	TCF7_ENST00000342854.5_Missense_Mutation_p.K270N|TCF7_ENST00000378560.4_Missense_Mutation_p.K155N|TCF7_ENST00000321603.6_Missense_Mutation_p.K270N|TCF7_ENST00000395029.1_Missense_Mutation_p.K270N|TCF7_ENST00000395023.1_Missense_Mutation_p.K155N|TCF7_ENST00000378564.1_Missense_Mutation_p.K270N|TCF7_ENST00000518915.1_Missense_Mutation_p.K155N|TCF7_ENST00000432532.2_Missense_Mutation_p.K155N|TCF7_ENST00000520958.1_Missense_Mutation_p.K155N			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	270					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K270N(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACCATCAAGAAGCCCCTCA	0.542																																					p.K270N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G810T	5						.						128.0	116.0	120.0					5																	133478466		2203	4300	6503	133506365	SO:0001583	missense	6932	exon7			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.810G>T	5.37:g.133478466G>T	ENSP00000326540:p.Lys270Asn		133506365	NM_003202	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115208|4.115208	0.77210|0.77210	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000517855|ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037;ENST00000517799	.|D;D;D;D;D;D;D;D;D;D;T;D	.|0.99070	.|-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-5.39;-0.4;-5.39	5.82|5.82	3.78|3.78	0.43462|0.43462	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99501	.|0.9822	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.997;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.994;0.994;0.994;0.998;0.996	.|D	.|0.98218	.|1.0476	.|10	.|0.87932	.|D	.|0	.|.	12.0637|12.0637	0.53576|0.53576	0.1844:0.0:0.8156:0.0|0.1844:0.0:0.8156:0.0	.|.	.|84;270;270;68;270;270	.|B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5	.|.;.;.;.;TCF7_HUMAN;.	X|N	59|270;270;270;270;270;270;155;155;155;155;155;130;48	.|ENSP00000340347:K270N;ENSP00000326654:K270N;ENSP00000326540:K270N;ENSP00000367827:K270N;ENSP00000378472:K270N;ENSP00000367822:K155N;ENSP00000397946:K155N;ENSP00000429547:K155N;ENSP00000430179:K155N;ENSP00000378469:K155N;ENSP00000429696:K130N;ENSP00000427968:K48N	.|ENSP00000326540:K270N	E|K	+|+	1|3	0|2	TCF7|TCF7	133506365|133506365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.390000|3.390000	0.52523|0.52523	1.444000|1.444000	0.47605|0.47605	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.542	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	
CDKL3	51265	broad.mit.edu	37	5	133640179	133640179	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:133640179T>C	ENST00000265334.4	-	11	1656	c.1538A>G	c.(1537-1539)aAt>aGt	p.N513S	CDKL3_ENST00000609383.1_3'UTR|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Missense_Mutation_p.N324S|CDKL3_ENST00000435240.2_Missense_Mutation_p.N218S|CDKL3_ENST00000536186.1_Missense_Mutation_p.N218S|CDKL3_ENST00000523054.1_Missense_Mutation_p.N324S|CDKL3_ENST00000521118.1_Missense_Mutation_p.N513S	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	513					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.N513S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGGAAAAATTCAGCTTCCT	0.373																																					p.N513S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1538G	5						.						165.0	143.0	149.0					5																	133640179		1567	3581	5148	133668078	SO:0001583	missense	51265	exon11			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1538A>G	5.37:g.133640179T>C	ENSP00000265334:p.Asn513Ser		133668078	NM_001113575	D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.082456	0.36758	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118	T;T;T;T;T	0.73258	0.77;0.74;-0.68;-0.55;-0.73	5.75	4.58	0.56647	.	0.095145	0.46758	N	0.000271	T	0.61236	0.2331	L	0.32530	0.975	0.80722	D	1	B;P;P;B;B	0.47545	0.312;0.513;0.897;0.247;0.028	B;B;B;B;B	0.43809	0.067;0.191;0.432;0.033;0.008	T	0.62515	-0.6838	10	0.59425	D	0.04	-31.7314	9.7533	0.40490	0.0:0.08:0.0:0.92	.	324;218;218;324;513	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	S	218;218;513;324;513	ENSP00000441545:N218S;ENSP00000399807:N218S;ENSP00000265334:N513S;ENSP00000428500:N324S;ENSP00000428689:N513S	ENSP00000265334:N513S	N	-	2	0	CDKL3	133668078	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.442000	0.35046	0.995000	0.38917	0.533000	0.62120	AAT		0.373	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
JADE2	23338	broad.mit.edu	37	5	133873686	133873686	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:133873686G>A	ENST00000402835.1	+	3	321	c.66G>A	c.(64-66)gcG>gcA	p.A22A	PHF15_ENST00000361895.2_Silent_p.A22A|PHF15_ENST00000395003.1_Silent_p.A22A|PHF15_ENST00000282605.4_Silent_p.A22A														p.A22A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGTCATGCGACATCTACAT	0.572																																					p.A22A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G66A	5						.						88.0	82.0	84.0					5																	133873686		2203	4300	6503	133901585	SO:0001819	synonymous_variant	23338	exon3																														ENST00000402835.1:c.66G>A	5.37:g.133873686G>A			133901585	NM_015288		Silent	SNP	ENST00000402835.1	37																																																																																					0.572	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1		
SEC24A	10802	broad.mit.edu	37	5	134053762	134053762	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134053762G>A	ENST00000398844.2	+	20	3157	c.2869G>A	c.(2869-2871)Gca>Aca	p.A957T	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	957					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.A957T(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTCAGGGAGCACTCAACAT	0.398																																					p.A957T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2869A	5						.						115.0	111.0	112.0					5																	134053762		1852	4106	5958	134081661	SO:0001583	missense	10802	exon20			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2869G>A	5.37:g.134053762G>A	ENSP00000381823:p.Ala957Thr		134081661	NM_021982	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415532	0.62511	.	.	ENSG00000113615	ENST00000398844	T	0.27720	1.65	5.53	5.53	0.82687	.	0.049477	0.85682	D	0.000000	T	0.31979	0.0814	L	0.59436	1.845	0.80722	D	1	B;B	0.13145	0.001;0.007	B;B	0.08055	0.001;0.003	T	0.21280	-1.0250	10	0.10377	T	0.69	-5.7698	19.4671	0.94946	0.0:0.0:1.0:0.0	.	721;957	B4E205;O95486	.;SC24A_HUMAN	T	957	ENSP00000381823:A957T	ENSP00000381823:A957T	A	+	1	0	SEC24A	134081661	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.719000	0.74718	2.614000	0.88457	0.467000	0.42956	GCA		0.398	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		
DDX46	9879	broad.mit.edu	37	5	134117631	134117631	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134117631A>C	ENST00000354283.4	+	8	1035	c.900A>C	c.(898-900)gaA>gaC	p.E300D	DDX46_ENST00000452510.2_Missense_Mutation_p.E300D			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	300					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E300D(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAGGAAGAAGTTGATCTTC	0.363																																					p.E300D	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A900C	5						.						48.0	48.0	48.0					5																	134117631		2203	4300	6503	134145530	SO:0001583	missense	9879	exon8				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.900A>C	5.37:g.134117631A>C	ENSP00000346236:p.Glu300Asp		134145530	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539390	0.27475	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.09630	2.96;2.96	5.65	3.2	0.36748	.	0.098954	0.64402	D	0.000001	T	0.06096	0.0158	N	0.16602	0.42	0.54753	D	0.999986	B	0.13594	0.008	B	0.12837	0.008	T	0.33523	-0.9865	10	0.11794	T	0.64	-26.7535	10.0177	0.42024	0.8613:0.0:0.1387:0.0	.	300	Q7L014	DDX46_HUMAN	D	300	ENSP00000416534:E300D;ENSP00000346236:E300D	ENSP00000346236:E300D	E	+	3	2	DDX46	134145530	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.232000	0.43018	0.392000	0.25172	0.368000	0.22195	GAA		0.363	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
DDX46	9879	broad.mit.edu	37	5	134147406	134147406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134147406G>T	ENST00000354283.4	+	18	2442	c.2307G>T	c.(2305-2307)aaG>aaT	p.K769N	DDX46_ENST00000452510.2_Missense_Mutation_p.K769N			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	769					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K769N(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAATTAAAAAGAGTAGTGGGT	0.313																																					p.K769N	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2307T	5						.						76.0	84.0	81.0					5																	134147406		2203	4300	6503	134175305	SO:0001583	missense	9879	exon18				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2307G>T	5.37:g.134147406G>T	ENSP00000346236:p.Lys769Asn		134175305	NM_014829	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258608	0.23051	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26810	1.71;1.71	4.93	2.12	0.27331	.	0.084378	0.85682	D	0.000000	T	0.18718	0.0449	L	0.45137	1.4	0.43803	D	0.996356	B	0.16166	0.016	B	0.20184	0.028	T	0.06303	-1.0834	10	0.18276	T	0.48	-19.3165	8.5783	0.33612	0.4058:0.0:0.5942:0.0	.	769	Q7L014	DDX46_HUMAN	N	769	ENSP00000416534:K769N;ENSP00000346236:K769N	ENSP00000346236:K769N	K	+	3	2	DDX46	134175305	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.943000	0.49026	0.596000	0.29794	0.491000	0.48974	AAG		0.313	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
DDX46	9879	broad.mit.edu	37	5	134154652	134154652	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134154652G>T	ENST00000354283.4	+	21	3067	c.2932G>T	c.(2932-2934)Gaa>Taa	p.E978*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E979*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	978					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E978*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTGGCAAAGAACCCAAGGA	0.418																																					p.E978X	Colon(13;391 453 4901 21675 24897)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2932T	5						.						94.0	92.0	92.0					5																	134154652		2203	4300	6503	134182551	SO:0001587	stop_gained	9879	exon21				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2932G>T	5.37:g.134154652G>T	ENSP00000346236:p.Glu978*		134182551	NM_014829	O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	44	10.651649	0.99444	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.71	5.71	0.89125	.	0.044719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-26.9445	19.8505	0.96738	0.0:0.0:1.0:0.0	.	.	.	.	X	979;978	.	ENSP00000346236:E978X	E	+	1	0	DDX46	134182551	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.799000	0.99117	2.688000	0.91661	0.655000	0.94253	GAA		0.418	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	
TXNDC15	79770	broad.mit.edu	37	5	134235320	134235320	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134235320G>A	ENST00000358387.4	+	5	1653	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	TXNDC15_ENST00000546290.1_Missense_Mutation_p.R320Q	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	343					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.R343Q(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTACCATTCGAACTGAGAGT	0.393																																					p.R343Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1028A	5						.						128.0	124.0	126.0					5																	134235320		2203	4300	6503	134263219	SO:0001583	missense	79770	exon5			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.1028G>A	5.37:g.134235320G>A	ENSP00000351157:p.Arg343Gln		134263219	NM_024715	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.735373|3.735373	0.69189|0.69189	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000508779|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.53206	.|0.63;0.64	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.062950	.|0.64402	.|D	.|0.000004	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.17082|0.17082	0.46|0.46	0.54753|0.54753	D|D	0.999986|0.999986	.|D	.|0.57257	.|0.979	.|B	.|0.40410	.|0.328	T|T	0.06661|0.06661	-1.0814|-1.0814	5|10	.|0.31617	.|T	.|0.26	-20.0855|-20.0855	13.1886|13.1886	0.59697|0.59697	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.	.|343	.|Q96J42	.|TXD15_HUMAN	K|Q	327|327;343;320	.|ENSP00000351157:R343Q;ENSP00000443942:R320Q	.|ENSP00000351157:R343Q	E|R	+|+	1|2	0|0	TXNDC15|TXNDC15	134263219|134263219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.089000|5.089000	0.64492|0.64492	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	
H2AFY	9555	broad.mit.edu	37	5	134686525	134686525	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134686525C>T	ENST00000511689.1	-	6	1282				H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000312469.4_Missense_Mutation_p.G223S|CTC-349C3.1_ENST00000554670.1_3'UTR|H2AFY_ENST00000304332.4_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.G223S(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTTCACCACCGATGTAGAAG	0.512																																					p.G223S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G667A	5						.						134.0	104.0	114.0					5																	134686525		2203	4300	6503	134714424	SO:0001627	intron_variant	9555	exon6			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.688+2110G>A	5.37:g.134686525C>T			134714424	NM_138609	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Intron	SNP	ENST00000511689.1	37	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801327	0.70567	.	.	ENSG00000113648	ENST00000312469	T	0.32988	1.43	6.05	6.05	0.98169	.	.	.	.	.	T	0.27419	0.0673	.	.	.	0.80722	D	1	P	0.42908	0.793	B	0.39531	0.302	T	0.01688	-1.1295	8	0.16420	T	0.52	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	223	O75367-2	.	S	223	ENSP00000310169:G223S	ENSP00000310169:G223S	G	-	1	0	H2AFY	134714424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.709000	0.84645	2.878000	0.98634	0.650000	0.86243	GGT		0.512	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893	
H2AFY	9555	broad.mit.edu	37	5	134724685	134724685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134724685C>A	ENST00000511689.1	-	2	692	c.99G>T	c.(97-99)aaG>aaT	p.K33N	H2AFY_ENST00000423969.2_Missense_Mutation_p.K33N|H2AFY_ENST00000510038.1_Missense_Mutation_p.K33N|H2AFY_ENST00000312469.4_Missense_Mutation_p.K33N|H2AFY_ENST00000304332.4_Missense_Mutation_p.K33N	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	33	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.K33N(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGCCTTTCTTGATGTACC	0.587																																					p.K33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G99T	5						.						114.0	96.0	102.0					5																	134724685		2203	4300	6503	134752584	SO:0001583	missense	9555	exon2			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.99G>T	5.37:g.134724685C>A	ENSP00000423563:p.Lys33Asn		134752584	NM_004893	O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014681	0.93404	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038	T;T;T;D;T	0.89746	-0.4;-0.4;-0.4;-2.56;-0.4	5.11	5.11	0.69529	Histone-fold (2);Histone core (1);Histone H2A (2);	0.049495	0.85682	D	0.000000	D	0.96793	0.8953	H	0.99130	4.44	0.80722	D	1	B;P;P;D	0.60160	0.379;0.933;0.873;0.987	B;P;P;P	0.60012	0.247;0.544;0.544;0.867	D	0.98476	1.0603	10	0.87932	D	0	.	18.7267	0.91716	0.0:1.0:0.0:0.0	.	33;33;33;33	B4DJC3;O75367-3;O75367-2;O75367	.;.;.;H2AY_HUMAN	N	33	ENSP00000423563:K33N;ENSP00000302572:K33N;ENSP00000310169:K33N;ENSP00000415121:K33N;ENSP00000424971:K33N	ENSP00000302572:K33N	K	-	3	2	H2AFY	134752584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.877000	0.56123	2.665000	0.90641	0.573000	0.79308	AAG		0.587	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893	
CXCL14	9547	broad.mit.edu	37	5	134907551	134907551	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:134907551C>T	ENST00000337225.5	-	4	792	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.E98K	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	110					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)	p.E110K(1)		large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCTATTCTTCGTAGACCCTG	0.428																																					p.E110K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G328A	5						.						61.0	61.0	61.0					5																	134907551		2203	4300	6503	134935450	SO:0001583	missense	9547	exon4			AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.328G>A	5.37:g.134907551C>T	ENSP00000337065:p.Glu110Lys		134935450	NM_004887	B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	ENST00000337225.5	37	CCDS4188.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712158	0.68730	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	.	.	.	4.64	4.64	0.57946	.	0.065374	0.64402	D	0.000012	T	0.64283	0.2584	L	0.29908	0.895	0.58432	D	0.999994	D	0.76494	0.999	D	0.68621	0.959	T	0.67643	-0.5618	9	0.72032	D	0.01	-2.2703	14.7191	0.69291	0.0:1.0:0.0:0.0	.	110	O95715	CXL14_HUMAN	K	110;98	.	ENSP00000337065:E110K	E	-	1	0	CXCL14	134935450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.622000	0.61240	2.563000	0.86464	0.655000	0.94253	GAA		0.428	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_004887	
SLC25A48	153328	broad.mit.edu	37	5	135188504	135188504	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135188504C>T	ENST00000420621.1	+	4	587	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	SLC25A48_ENST00000412661.2_Missense_Mutation_p.R139W|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Missense_Mutation_p.R139W|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R85W			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	139					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R139W(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACAACCGTTTCGGGACGGTAA	0.592																																					p.R139W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C415T	5						.						24.0	27.0	26.0					5																	135188504		1973	4149	6122	135216403	SO:0001583	missense	153328	exon4				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.415C>T	5.37:g.135188504C>T	ENSP00000407973:p.Arg139Trp		135216403	NM_145282	Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271608	0.59649	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.08	5.08	0.68730	.	1.383300	0.04904	N	0.451766	T	0.82217	0.4989	L	0.38838	1.175	0.25951	N	0.982743	D;D	0.69078	0.997;0.997	P;P	0.55785	0.711;0.784	T	0.71879	-0.4459	10	0.72032	D	0.01	-16.6873	14.3307	0.66553	0.1578:0.8422:0.0:0.0	.	139;139	Q6ZT89-3;Q6ZT89-2	.;.	W	139;139;85;139	ENSP00000274513:R139W;ENSP00000407973:R139W;ENSP00000399834:R85W;ENSP00000413049:R139W	ENSP00000274513:R139W	R	+	1	2	SLC25A48	135216403	0.497000	0.26067	0.961000	0.40146	0.466000	0.32739	1.155000	0.31700	2.359000	0.80004	0.462000	0.41574	CGG		0.592	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282	
IL9	3578	broad.mit.edu	37	5	135228163	135228163	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135228163C>T	ENST00000274520.1	-	5	362	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	118					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.A118T(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGTTGCCTGCCGTGGTTTGG	0.428																																					p.A118T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	5						.						74.0	81.0	79.0					5																	135228163		2203	4300	6503	135256062	SO:0001583	missense	3578	exon5			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.352G>A	5.37:g.135228163C>T	ENSP00000274520:p.Ala118Thr		135256062	NM_000590		Missense_Mutation	SNP	ENST00000274520.1	37	CCDS4189.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303382	0.40795	.	.	ENSG00000145839	ENST00000274520	T	0.49432	0.78	5.48	-0.814	0.10846	.	0.978844	0.08359	N	0.958021	T	0.27663	0.0680	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.20706	-1.0267	10	0.27082	T	0.32	0.0468	4.786	0.13225	0.0:0.4336:0.1647:0.4017	.	118	P15248	IL9_HUMAN	T	118	ENSP00000274520:A118T	ENSP00000274520:A118T	A	-	1	0	IL9	135256062	0.000000	0.05858	0.002000	0.10522	0.092000	0.18411	-0.986000	0.03747	-0.062000	0.13088	0.655000	0.94253	GCA		0.428	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590	
LECT2	3950	broad.mit.edu	37	5	135272512	135272512	+	Intron	SNP	C	C	A	rs141254114	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135272512C>A	ENST00000522943.1	-	4	418				FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_5'Flank|FBXL21_ENST00000297158.9_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.H77N(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAGTTTTTCATATTTCTGA	0.378																																					p.H77N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C229A	5						.						126.0	122.0	124.0					5																	135272512		1864	4098	5962	135300411	SO:0001627	intron_variant	26223	exon5			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.290-14389G>T	5.37:g.135272512C>A			135300411	NM_012159	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37																																																																																					0.378	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302	
LECT2	3950	broad.mit.edu	37	5	135276280	135276280	+	5'UTR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135276280C>A	ENST00000471827.1	-	0	481				FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000522943.1_Intron|FBXL21_ENST00000297158.9_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.L40I(1)|p.L198I(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGAAGATTCTTGTGGCCAA	0.343																																					p.L198I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C592A	5						.						100.0	99.0	99.0					5																	135276280		1869	4105	5974	135304179	SO:0001623	5_prime_UTR_variant	26223	exon7			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000471827.1:c.-331G>T	5.37:g.135276280C>A			135304179	NM_012159	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000471827.1	37																																																																																					0.343	LECT2-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000342497.1	NM_002302	
LECT2	3950	broad.mit.edu	37	5	135276992	135276992	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135276992G>A	ENST00000522943.1	-	3	418				FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000297158.9_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.E313K(1)|p.E155K(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCAAAGAAGAAACCCCTGT	0.408																																					p.E313K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G937A	5						.						121.0	117.0	118.0					5																	135276992		1865	4097	5962	135304891	SO:0001627	intron_variant	26223	exon8			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+9919C>T	5.37:g.135276992G>A			135304891	NM_012159	B2RA90|O14565|Q52M49	Missense_Mutation	SNP	ENST00000522943.1	37																																																																																					0.408	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302	
LECT2	3950	broad.mit.edu	37	5	135286985	135286985	+	Silent	SNP	T	T	C	rs201408239		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135286985T>C	ENST00000274507.1	-	3	416	c.216A>G	c.(214-216)ggA>ggG	p.G72G	FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Silent_p.G72G|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.G72G	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	72					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.G72G(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCACAATCATTCCAGTGAATG	0.458																																					p.G72G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A216G	5						.						138.0	126.0	130.0					5																	135286985		2203	4300	6503	135314884	SO:0001819	synonymous_variant	3950	exon3			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.216A>G	5.37:g.135286985T>C			135314884	NM_002302	B2RA90|O14565|Q52M49	Silent	SNP	ENST00000274507.1	37	CCDS4190.1																																																																																				0.458	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302	
SMAD5	4090	broad.mit.edu	37	5	135489526	135489526	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135489526A>G	ENST00000545279.1	+	3	437	c.77A>G	c.(76-78)gAg>gGg	p.E26G	SMAD5_ENST00000545620.1_Missense_Mutation_p.E26G|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	26	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)	p.E26G(1)		central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGGTGATGAGGAGGAGAAA	0.448																																					p.E26G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A77G	5						.						88.0	90.0	89.0					5																	135489526		2099	4269	6368	135517425	SO:0001583	missense	4090	exon4			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.77A>G	5.37:g.135489526A>G	ENSP00000441954:p.Glu26Gly		135517425	NM_001001419	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37		.	.	.	.	.	.	.	.	.	.	A	24.2	4.501851	0.85176	.	.	ENSG00000113658	ENST00000507118;ENST00000511116;ENST00000545279;ENST00000545620;ENST00000506223	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.76727	2.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.84754	0.0758	10	0.52906	T	0.07	.	16.3594	0.83251	1.0:0.0:0.0:0.0	.	26	F5GWU7	.	G	26	ENSP00000425749:E26G;ENSP00000424279:E26G;ENSP00000441954:E26G;ENSP00000446474:E26G;ENSP00000422954:E26G	ENSP00000422954:E26G	E	+	2	0	SMAD5	135517425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.233000	0.95337	2.266000	0.75297	0.455000	0.32223	GAG		0.448	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903	
TRPC7	57113	broad.mit.edu	37	5	135602072	135602072	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135602072G>T	ENST00000513104.1	-	5	1463	c.1181C>A	c.(1180-1182)tCt>tAt	p.S394Y	TRPC7_ENST00000355180.3_Missense_Mutation_p.S333Y|TRPC7_ENST00000426057.2_Missense_Mutation_p.S278Y	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	394					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S394Y(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTGTAAAAGAAACTGCATG	0.408																																					p.S394Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1181A	5						.						108.0	100.0	102.0					5																	135602072		1835	4102	5937	135629971	SO:0001583	missense	57113	exon5			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1181C>A	5.37:g.135602072G>T	ENSP00000426070:p.Ser394Tyr		135629971	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.692030|4.692030	0.88735|0.88735	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.69175	.|0.29;-0.38;0.29	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86855|0.86855	0.6033|0.6033	M|M	0.94021|0.94021	3.485|3.485	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D;D;D	.|0.89917	.|1.0;0.994;0.998;0.998	.|D;D;D;D	.|0.77557	.|0.99;0.987;0.97;0.952	D|D	0.89943|0.89943	0.4074|0.4074	5|10	.|0.87932	.|D	.|0	-10.072|-10.072	18.9943|18.9943	0.92806|0.92806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|278;333;339;394	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	L|Y	277;332;338|333;278;394;394	.|ENSP00000347312:S333Y;ENSP00000441628:S278Y;ENSP00000426070:S394Y	.|ENSP00000265193:S394Y	F|S	-|-	3|2	2|0	TRPC7|TRPC7	135629971|135629971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.595000|9.595000	0.98260|0.98260	2.706000|2.706000	0.92434|0.92434	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.408	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
TRPC7	57113	broad.mit.edu	37	5	135651448	135651448	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:135651448G>T	ENST00000513104.1	-	3	1082	c.800C>A	c.(799-801)tCt>tAt	p.S267Y	TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	267					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S267Y(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATTGCATAGATAACTTCCT	0.483																																					p.S267Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C800A	5						.						66.0	68.0	67.0					5																	135651448		2069	4228	6297	135679347	SO:0001583	missense	57113	exon3			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.800C>A	5.37:g.135651448G>T	ENSP00000426070:p.Ser267Tyr		135679347	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854030	0.91355	.	.	ENSG00000069018	ENST00000513104;ENST00000265193	T	0.63913	-0.07	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.88310	2.945	0.80722	D	1	D;P	0.69078	0.997;0.834	D;P	0.72075	0.976;0.784	D	0.85275	0.1058	10	0.87932	D	0	-13.7371	19.8946	0.96949	0.0:0.0:1.0:0.0	.	267;267	Q70T25;Q9HCX4	.;TRPC7_HUMAN	Y	267	ENSP00000426070:S267Y	ENSP00000265193:S267Y	S	-	2	0	TRPC7	135679347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	TCT		0.483	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
SPOCK1	6695	broad.mit.edu	37	5	136448205	136448205	+	Silent	SNP	C	C	T	rs144155642	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:136448205C>T	ENST00000394945.1	-	5	562	c.393G>A	c.(391-393)tcG>tcA	p.S131S	SPOCK1_ENST00000282223.7_Silent_p.S131S	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	131	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S131S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGACCAAATTCGAAGGTCCAA	0.493																																					p.S131S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	5						.	C		0,4406		0,0,2203	102.0	98.0	99.0		393	-0.2	0.7	5	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SPOCK1	NM_004598.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		131/440	136448205	2,13004	2203	4300	6503	136476104	SO:0001819	synonymous_variant	6695	exon5			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.393G>A	5.37:g.136448205C>T			136476104	NM_004598	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	CCDS4191.1																																																																																				0.493	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598	
KLHL3	26249	broad.mit.edu	37	5	136997685	136997685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:136997685C>A	ENST00000309755.4	-	7	1115	c.672G>T	c.(670-672)gaG>gaT	p.E224D	KLHL3_ENST00000506491.1_Missense_Mutation_p.E142D|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000508657.1_Missense_Mutation_p.E192D|KLHL3_ENST00000541417.1_Missense_Mutation_p.E104D|KLHL3_ENST00000394937.3_Missense_Mutation_p.E224D	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	224	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.E224D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGGTTTCTTTCTCATAATTGA	0.418																																					p.E224D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	5						.						134.0	115.0	121.0					5																	136997685		2203	4300	6503	137025584	SO:0001583	missense	26249	exon7			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.672G>T	5.37:g.136997685C>A	ENSP00000312397:p.Glu224Asp		137025584	NM_017415	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	ENST00000309755.4	37	CCDS4192.1	.	.	.	.	.	.	.	.	.	.	C	5.273	0.235831	0.10023	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000541417;ENST00000505853;ENST00000394937	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.99	4.12	0.48240	BTB/Kelch-associated (2);	0.107097	0.64402	D	0.000006	T	0.13457	0.0326	N	0.00021	-2.745	0.49051	D	0.999742	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.17979	0.004;0.004;0.02	T	0.41645	-0.9497	10	0.02654	T	1	.	6.7885	0.23687	0.0:0.6983:0.1466:0.1551	.	184;224;224	D6RH21;Q9UH77;Q8N4I8	.;KLHL3_HUMAN;.	D	142;192;224;104;184;224	ENSP00000424828:E142D;ENSP00000422099:E192D;ENSP00000312397:E224D;ENSP00000440319:E104D;ENSP00000426173:E184D;ENSP00000378395:E224D	ENSP00000312397:E224D	E	-	3	2	KLHL3	137025584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.342000	0.33919	1.472000	0.48140	0.655000	0.94253	GAG		0.418	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2		
MYOT	9499	broad.mit.edu	37	5	137206353	137206353	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137206353G>A	ENST00000239926.4	+	2	387	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	5					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.E5K(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTTTAACTACGAACGTCCAAA	0.468																																					p.E5K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13A	5						.						125.0	135.0	132.0					5																	137206353		2203	4300	6503	137234252	SO:0001583	missense	9499	exon2			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.13G>A	5.37:g.137206353G>A	ENSP00000239926:p.Glu5Lys		137234252	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776207	0.90195	.	.	ENSG00000120729	ENST00000239926	T	0.70749	-0.51	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000012	T	0.79822	0.4512	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79962	-0.1582	10	0.52906	T	0.07	.	17.5608	0.87906	0.0:0.0:1.0:0.0	.	5	Q9UBF9	MYOTI_HUMAN	K	5	ENSP00000239926:E5K	ENSP00000239926:E5K	E	+	1	0	MYOT	137234252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.066000	0.64351	2.582000	0.87167	0.650000	0.86243	GAA		0.468	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
MYOT	9499	broad.mit.edu	37	5	137206519	137206519	+	Missense_Mutation	SNP	C	C	T	rs121908458		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137206519C>T	ENST00000239926.4	+	2	553	c.179C>T	c.(178-180)tCt>tTt	p.S60F	MYOT_ENST00000421631.2_Intron|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	60			S -> C (in MFM3). {ECO:0000269|PubMed:15111675}.|S -> F (in MFM3). {ECO:0000269|PubMed:15111675}.		muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.S60F(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACACTGAGCTCTCACATCACC	0.527																																					p.S60F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C179T	5	GRCh37	CM041092|CM041093	MYOT	M	rs121908458	.	C	,PHE/SER	0,4406		0,0,2203	143.0	128.0	133.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,179	6.0	1.0	5	dbSNP_133	133	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MYOT	NM_001135940.1,NM_006790.2	,155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,60/499	137206519	1,13005	2203	4300	6503	137234418	SO:0001583	missense	9499	exon2			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.179C>T	5.37:g.137206519C>T	ENSP00000239926:p.Ser60Phe		137234418	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629351	0.67015	0.0	1.16E-4	ENSG00000120729	ENST00000239926	T	0.70749	-0.51	6.02	6.02	0.97574	.	0.093220	0.46758	D	0.000266	T	0.65048	0.2654	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.46320	0.512	T	0.65166	-0.6234	10	0.40728	T	0.16	.	18.7178	0.91682	0.0:1.0:0.0:0.0	.	60	Q9UBF9	MYOTI_HUMAN	F	60	ENSP00000239926:S60F	ENSP00000239926:S60F	S	+	2	0	MYOT	137234418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.360000	0.66086	2.857000	0.98124	0.650000	0.86243	TCT		0.527	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
MYOT	9499	broad.mit.edu	37	5	137217717	137217717	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137217717T>G	ENST00000239926.4	+	6	1113	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	MYOT_ENST00000421631.2_Missense_Mutation_p.F63V|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.F132V	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	247	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.F247V(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGGAGAAATTTTACCCACC	0.383																																					p.F247V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T739G	5						.						114.0	113.0	113.0					5																	137217717		2203	4300	6503	137245616	SO:0001583	missense	9499	exon6			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.739T>G	5.37:g.137217717T>G	ENSP00000239926:p.Phe247Val		137245616	NM_006790	A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997170	0.74818	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.29;-0.21;-0.33	5.65	4.46	0.54185	.	0.160787	0.44483	D	0.000460	T	0.53367	0.1792	N	0.24115	0.695	0.40751	D	0.98291	P	0.52842	0.956	P	0.45071	0.468	T	0.48468	-0.9033	10	0.17832	T	0.49	.	12.764	0.57380	0.0:0.0:0.1372:0.8628	.	247	Q9UBF9	MYOTI_HUMAN	V	247;63;132	ENSP00000239926:F247V;ENSP00000391185:F63V;ENSP00000426281:F132V	ENSP00000239926:F247V	F	+	1	0	MYOT	137245616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.952000	0.70282	0.940000	0.37473	0.383000	0.25322	TTT		0.383	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
MYOT	9499	broad.mit.edu	37	5	137222999	137222999	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137222999A>G	ENST00000239926.4	+	10	1796	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	MYOT_ENST00000421631.2_Silent_p.K290K|PKD2L2_ENST00000502810.1_5'Flank|RP11-381K20.2_ENST00000508281.2_RNA|PKD2L2_ENST00000290431.5_5'Flank|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000508883.1_5'Flank|MYOT_ENST00000515645.1_Silent_p.K359K|PKD2L2_ENST00000350250.4_5'Flank|PKD2L2_ENST00000508638.1_5'Flank	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	474	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.K474K(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGAATGTAAAACAAGCTTTTA	0.398																																					p.K474K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1422G	5						.						82.0	84.0	84.0					5																	137222999		2203	4300	6503	137250898	SO:0001819	synonymous_variant	9499	exon10			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.1422A>G	5.37:g.137222999A>G			137250898	NM_006790	A0A4R6|B4DT79	Silent	SNP	ENST00000239926.4	37	CCDS4194.1																																																																																				0.398	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790	
FAM13B	51306	broad.mit.edu	37	5	137275930	137275930	+	Missense_Mutation	SNP	G	G	T	rs201567292		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137275930G>T	ENST00000033079.3	-	23	3183	c.2732C>A	c.(2731-2733)tCt>tAt	p.S911Y	FAM13B_ENST00000425075.2_Missense_Mutation_p.S787Y|PKD2L2_ENST00000502810.1_3'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.S883Y|PKD2L2_ENST00000290431.5_3'UTR|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000508638.1_3'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	911					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S911Y(1)		endometrium(4)|kidney(2)|lung(5)	11						GGATTTTGAAGAATCTTGTTT	0.358																																					p.S911Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2732A	5						.						123.0	121.0	121.0					5																	137275930		2203	4300	6503	137303829	SO:0001583	missense	51306	exon23			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2732C>A	5.37:g.137275930G>T	ENSP00000033079:p.Ser911Tyr		137303829	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842947	0.71488	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.25749	2.88;1.78;2.89	5.37	5.37	0.77165	.	0.058912	0.64402	D	0.000001	T	0.14830	0.0358	N	0.14661	0.345	0.53688	D	0.999973	P;B;B	0.38473	0.633;0.11;0.319	B;B;B	0.31495	0.131;0.016;0.09	T	0.05550	-1.0878	10	0.45353	T	0.12	-8.8573	14.3165	0.66454	0.0:0.0:0.8515:0.1485	.	787;883;911	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	Y	911;787;883	ENSP00000033079:S911Y;ENSP00000394669:S787Y;ENSP00000388521:S883Y	ENSP00000033079:S911Y	S	-	2	0	FAM13B	137303829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.156000	0.71840	2.679000	0.91253	0.591000	0.81541	TCT		0.358	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
FAM13B	51306	broad.mit.edu	37	5	137342688	137342688	+	Missense_Mutation	SNP	G	G	A	rs576080082		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137342688G>A	ENST00000033079.3	-	7	1290	c.839C>T	c.(838-840)aCg>aTg	p.T280M	FAM13B_ENST00000425075.2_Missense_Mutation_p.T162M|FAM13B_ENST00000420893.2_Missense_Mutation_p.T280M	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	280					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T280M(1)		endometrium(4)|kidney(2)|lung(5)	11						CCTTGTTGCCGTAACACTATT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18437	0.0		0.0	False		,,,				2504	0.001				p.T280M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C839T	5						.						217.0	193.0	202.0					5																	137342688		2203	4300	6503	137370587	SO:0001583	missense	51306	exon7			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.839C>T	5.37:g.137342688G>A	ENSP00000033079:p.Thr280Met		137370587	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580044	0.28180	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23552	3.02;1.9;3.02	5.82	-1.21	0.09524	.	0.856614	0.10735	N	0.640139	T	0.14657	0.0354	N	0.22421	0.69	0.24566	N	0.993945	B;B;B	0.15473	0.013;0.005;0.007	B;B;B	0.11329	0.006;0.004;0.002	T	0.25293	-1.0136	10	0.46703	T	0.11	0.4382	5.8972	0.18945	0.2553:0.0:0.5237:0.221	.	162;280;280	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	M	280;162;280	ENSP00000033079:T280M;ENSP00000394669:T162M;ENSP00000388521:T280M	ENSP00000033079:T280M	T	-	2	0	FAM13B	137370587	1.000000	0.71417	0.979000	0.43373	0.931000	0.56810	1.045000	0.30341	-0.113000	0.11958	-0.198000	0.12761	ACG		0.368	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
FAM13B	51306	broad.mit.edu	37	5	137354051	137354051	+	Nonsense_Mutation	SNP	C	C	A	rs148088678	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137354051C>A	ENST00000033079.3	-	4	761	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	FAM13B_ENST00000425075.2_5'UTR|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.E104*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	104	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.E104*(1)		endometrium(4)|kidney(2)|lung(5)	11						TCAGGAAGTTCTTGAAGAAAA	0.408																																					p.E104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G310T	5						.						111.0	107.0	108.0					5																	137354051		2203	4300	6503	137381950	SO:0001587	stop_gained	51306	exon4			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.310G>T	5.37:g.137354051C>A	ENSP00000033079:p.Glu104*		137381950	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	38	6.979382	0.97979	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3175	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	104	.	ENSP00000033079:E104X	E	-	1	0	FAM13B	137381950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.890000	0.99128	0.650000	0.86243	GAA		0.408	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
WNT8A	7478	broad.mit.edu	37	5	137426419	137426419	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137426419C>T	ENST00000398754.1	+	6	718	c.713C>T	c.(712-714)gCt>gTt	p.A238V	WNT8A_ENST00000506684.1_Missense_Mutation_p.A256V	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	238					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.A238V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGTGCCCGCTGAGGCCTTC	0.547																																					p.A238V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C713T	5						.						45.0	50.0	48.0					5																	137426419		1948	4147	6095	137454318	SO:0001583	missense	7478	exon6			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.713C>T	5.37:g.137426419C>T	ENSP00000381739:p.Ala238Val		137454318	NM_058244	Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	C	7.169	0.587328	0.13812	.	.	ENSG00000061492	ENST00000506684;ENST00000504809;ENST00000398754	T;T;T	0.76060	-0.99;-0.99;-0.99	4.85	3.02	0.34903	.	0.391843	0.28262	N	0.015999	T	0.57489	0.2057	L	0.35542	1.07	0.09310	N	0.999999	B;B;B	0.18013	0.025;0.011;0.001	B;B;B	0.21360	0.034;0.034;0.01	T	0.36696	-0.9737	10	0.15952	T	0.53	.	6.334	0.21287	0.136:0.6592:0.1315:0.0733	.	256;256;238	D6RF47;D6RF94;Q9H1J5	.;.;WNT8A_HUMAN	V	256;256;238	ENSP00000426653:A256V;ENSP00000424809:A256V;ENSP00000381739:A238V	ENSP00000354726:A238V	A	+	2	0	WNT8A	137454318	0.002000	0.14202	0.002000	0.10522	0.108000	0.19459	1.520000	0.35899	0.609000	0.30018	0.557000	0.71058	GCT		0.547	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
BRD8	10902	broad.mit.edu	37	5	137488401	137488401	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137488401C>A	ENST00000254900.5	-	21	2997	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	876					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.D876Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACTCAGAGTCATTGGGATGA	0.458																																					p.D876Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2626T	5						.						125.0	124.0	124.0					5																	137488401		2203	4300	6503	137516300	SO:0001583	missense	10902	exon21			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2626G>T	5.37:g.137488401C>A	ENSP00000254900:p.Asp876Tyr		137516300	NM_139199	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801746	0.70682	.	.	ENSG00000112983	ENST00000254900	T	0.35421	1.31	5.39	5.39	0.77823	.	0.217349	0.29572	N	0.011766	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D	0.59767	0.986	P	0.54499	0.754	T	0.23084	-1.0198	10	0.62326	D	0.03	-0.3705	16.0138	0.80422	0.0:1.0:0.0:0.0	.	876	Q9H0E9	BRD8_HUMAN	Y	876	ENSP00000254900:D876Y	ENSP00000254900:D876Y	D	-	1	0	BRD8	137516300	0.943000	0.32029	1.000000	0.80357	0.935000	0.57460	0.943000	0.29030	2.795000	0.96236	0.655000	0.94253	GAC		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
CDC25C	995	broad.mit.edu	37	5	137627764	137627764	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137627764C>A	ENST00000323760.6	-	8	935	c.657G>T	c.(655-657)gaG>gaT	p.E219D	CDC25C_ENST00000513970.1_Missense_Mutation_p.E219D|CDC25C_ENST00000356505.3_Missense_Mutation_p.E189D|CDC25C_ENST00000514555.1_Missense_Mutation_p.E189D|CDC25C_ENST00000357274.3_Missense_Mutation_p.E176D|CDC25C_ENST00000348983.3_Missense_Mutation_p.E146D|CDC25C_ENST00000415130.2_Missense_Mutation_p.E146D	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	219					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.E219D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGTTCAAGTTCTCTGGCATCG	0.448																																					p.E219D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G657T	5						.						146.0	152.0	150.0					5																	137627764		2203	4300	6503	137655663	SO:0001583	missense	995	exon8			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.657G>T	5.37:g.137627764C>A	ENSP00000321656:p.Glu219Asp		137655663	NM_001790	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.065|5.065	0.197634|0.197634	0.09652|0.09652	.|.	.|.	ENSG00000158402|ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022|ENST00000514017	T;T;T;T;T;T;T;T|.	0.23950|.	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88|.	3.09|3.09	2.22|2.22	0.28083|0.28083	.|.	1.118840|1.118840	0.06726|0.06726	N|N	0.775842|0.775842	T|.	0.23330|.	0.0564|.	N|N	0.12746|0.12746	0.255|0.255	0.26961|0.26961	N|N	0.965807|0.965807	B;B;B;B|.	0.17465|.	0.0;0.0;0.022;0.0|.	B;B;B;B|.	0.15052|.	0.001;0.001;0.012;0.001|.	T|.	0.06144|.	-1.0843|.	10|.	0.13108|0.06236	T|T	0.6|0.91	-7.948|-7.948	11.4698|11.4698	0.50261|0.50261	0.0:0.7983:0.2017:0.0|0.0:0.7983:0.2017:0.0	.|.	236;189;146;219|.	G3V1P6;P30307-2;P30307-4;P30307|.	.;.;.;MPIP3_HUMAN|.	D|X	219;189;176;146;146;219;236;189;219|14	ENSP00000321656:E219D;ENSP00000348898:E189D;ENSP00000349821:E176D;ENSP00000345205:E146D;ENSP00000392631:E146D;ENSP00000424795:E219D;ENSP00000425470:E189D;ENSP00000427251:E219D|.	ENSP00000321656:E219D|ENSP00000423525:E14X	E|E	-|-	3|1	2|0	CDC25C|CDC25C	137655663|137655663	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.461000|0.461000	0.32589|0.32589	1.322000|1.322000	0.33689|0.33689	0.851000|0.851000	0.35264|0.35264	0.557000|0.557000	0.71058|0.71058	GAG|GAA		0.448	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1		
FAM53C	51307	broad.mit.edu	37	5	137680523	137680523	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137680523C>T	ENST00000239906.5	+	4	574	c.146C>T	c.(145-147)tCc>tTc	p.S49F	FAM53C_ENST00000513056.1_Intron|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S49F	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	49								p.S49F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAAGGTGCTTCCTGGAGGGGC	0.453																																					p.S49F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C146T	5						.						47.0	50.0	49.0					5																	137680523		2203	4300	6503	137708422	SO:0001583	missense	51307	exon4			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.146C>T	5.37:g.137680523C>T	ENSP00000239906:p.Ser49Phe		137708422	NM_001135647	B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263895	0.59431	.	.	ENSG00000120709	ENST00000434981;ENST00000239906;ENST00000511276	T;T;T	0.48201	0.82;0.82;0.82	5.13	5.13	0.70059	.	0.206938	0.40385	N	0.001103	T	0.44329	0.1288	L	0.47716	1.5	0.80722	D	1	P	0.47484	0.896	B	0.39738	0.308	T	0.52616	-0.8552	10	0.87932	D	0	-12.2577	17.5187	0.87781	0.0:1.0:0.0:0.0	.	49	Q9NYF3	FA53C_HUMAN	F	49;49;39	ENSP00000403705:S49F;ENSP00000239906:S49F;ENSP00000427610:S39F	ENSP00000239906:S49F	S	+	2	0	FAM53C	137708422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.825000	0.55730	2.659000	0.90383	0.563000	0.77884	TCC		0.453	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
DNAH5	1767	broad.mit.edu	37	5	13721199	13721199	+	Silent	SNP	C	C	A	rs144879072		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13721199C>A	ENST00000265104.4	-	71	12293	c.12189G>T	c.(12187-12189)ggG>ggT	p.G4063G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4063	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G4063G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATCTCTTCCCCAAGGCAA	0.527									Kartagener syndrome																												p.G4063G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12189T	5						.						112.0	114.0	113.0					5																	13721199		2203	4300	6503	13774199	SO:0001819	synonymous_variant	1767	exon71	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12189G>T	5.37:g.13721199C>A			13774199	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.527	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
FAM53C	51307	broad.mit.edu	37	5	137681298	137681298	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137681298G>T	ENST00000239906.5	+	4	1349	c.921G>T	c.(919-921)caG>caT	p.Q307H	FAM53C_ENST00000513056.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Splice_Site_p.Q307H	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	307								p.Q307H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGATGAATCAGGTGGGACCAG	0.582																																					p.Q307H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G921T	5						.						34.0	40.0	38.0					5																	137681298		2197	4283	6480	137709197	SO:0001630	splice_region_variant	51307	exon4			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.921+1G>T	5.37:g.137681298G>T			137709197	NM_001135647	B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306271	0.81247	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.55930	0.49;0.49	5.55	5.55	0.83447	.	0.055558	0.64402	N	0.000001	T	0.73705	0.3621	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74839	-0.3528	10	0.66056	D	0.02	-9.2544	18.4386	0.90656	0.0:0.0:1.0:0.0	.	307	Q9NYF3	FA53C_HUMAN	H	307	ENSP00000403705:Q307H;ENSP00000239906:Q307H	ENSP00000239906:Q307H	Q	+	3	2	FAM53C	137709197	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.117000	0.94347	2.894000	0.99253	0.655000	0.94253	CAG		0.582	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	Missense_Mutation
KDM3B	51780	broad.mit.edu	37	5	137726930	137726930	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137726930A>C	ENST00000314358.5	+	8	1809	c.1609A>C	c.(1609-1611)Agt>Cgt	p.S537R	KDM3B_ENST00000394866.1_Missense_Mutation_p.S193R|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	537					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.S537R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTACCTACCAGTAACTACTT	0.443																																					p.S537R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1609C	5						.						96.0	99.0	98.0					5																	137726930		2203	4300	6503	137754829	SO:0001583	missense	51780	exon8			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1609A>C	5.37:g.137726930A>C	ENSP00000326563:p.Ser537Arg		137754829	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960016	0.53400	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.42131	0.98;0.98	5.57	5.57	0.84162	.	0.197079	0.56097	D	0.000039	T	0.36771	0.0979	L	0.27053	0.805	0.80722	D	1	B;B	0.26512	0.126;0.151	B;B	0.32533	0.147;0.095	T	0.27365	-1.0076	10	0.72032	D	0.01	-3.302	15.713	0.77646	1.0:0.0:0.0:0.0	.	193;537	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	R	537;327;193	ENSP00000326563:S537R;ENSP00000378335:S193R	ENSP00000326563:S537R	S	+	1	0	KDM3B	137754829	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.307000	0.72815	2.115000	0.64714	0.533000	0.62120	AGT		0.443	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
KDM3B	51780	broad.mit.edu	37	5	137766019	137766019	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137766019C>T	ENST00000314358.5	+	22	5175	c.4975C>T	c.(4975-4977)Cgt>Tgt	p.R1659C	KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315C|KDM3B_ENST00000542866.1_Missense_Mutation_p.R691C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1659	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R1659C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCAGACCCTCCGTAAGCGACT	0.522																																					p.R1659C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4975T	5						.						136.0	127.0	130.0					5																	137766019		2203	4300	6503	137793918	SO:0001583	missense	51780	exon22			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4975C>T	5.37:g.137766019C>T	ENSP00000326563:p.Arg1659Cys		137793918	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	34	5.361144	0.95877	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74209	-0.82;-0.82;-0.82	5.71	5.71	0.89125	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.88967	0.3398	10	0.87932	D	0	-4.8933	19.8446	0.96704	0.0:1.0:0.0:0.0	.	1315;1659	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	1659;1449;1315;691	ENSP00000326563:R1659C;ENSP00000378335:R1315C;ENSP00000439462:R691C	ENSP00000326563:R1659C	R	+	1	0	KDM3B	137793918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.773000	0.62331	2.698000	0.92095	0.655000	0.94253	CGT		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
REEP2	51308	broad.mit.edu	37	5	137776743	137776743	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137776743A>G	ENST00000254901.5	+	2	193	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Missense_Mutation_p.Y24C|REEP2_ENST00000506158.1_5'UTR	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	24					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.Y24C(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TATTCTTCCTACAAGGCCGTG	0.582																																					p.Y24C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A71G	5						.						103.0	88.0	93.0					5																	137776743		2203	4300	6503	137804642	SO:0001583	missense	51308	exon2			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.71A>G	5.37:g.137776743A>G	ENSP00000254901:p.Tyr24Cys		137804642	NM_016606	Q53EM8|Q9NYF2	Missense_Mutation	SNP	ENST00000254901.5	37	CCDS4205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.814086|4.814086	0.90790|0.90790	.|.	.|.	ENSG00000132563|ENSG00000132563	ENST00000512126|ENST00000378339;ENST00000254901	.|D;D	.|0.93133	.|-3.17;-3.17	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97321|0.97321	0.9124|0.9124	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.971;0.997	.|D;D	.|0.70016	.|0.916;0.967	D|D	0.98342|0.98342	1.0539|1.0539	5|10	.|0.87932	.|D	.|0	-2.5634|-2.5634	15.5299|15.5299	0.75952|0.75952	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|24;24	.|A8K3D2;Q9BRK0	.|.;REEP2_HUMAN	A|C	62|24	.|ENSP00000367590:Y24C;ENSP00000254901:Y24C	.|ENSP00000254901:Y24C	T|Y	+|+	1|2	0|0	REEP2|REEP2	137804642|137804642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.679000|8.679000	0.91220|0.91220	2.139000|2.139000	0.66308|0.66308	0.459000|0.459000	0.35465|0.35465	ACA|TAC		0.582	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606	
ETF1	2107	broad.mit.edu	37	5	137847174	137847174	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:137847174C>A	ENST00000360541.5	-	7	1073	c.852G>T	c.(850-852)aaG>aaT	p.K284N	ETF1_ENST00000499810.2_Missense_Mutation_p.K251N|ETF1_ENST00000503014.1_Missense_Mutation_p.K270N	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	284					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.K284N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATTAATTTCTTCTCTTGAA	0.358																																					p.K284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G852T	5						.						81.0	77.0	78.0					5																	137847174		2203	4299	6502	137875073	SO:0001583	missense	2107	exon7			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.852G>T	5.37:g.137847174C>A	ENSP00000353741:p.Lys284Asn		137875073	NM_004730	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470685	0.84533	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.74	5.74	0.90152	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.88651	0.6494	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	D	0.92213	0.5778	9	0.87932	D	0	-7.1697	14.1394	0.65311	0.0:0.9261:0.0:0.0739	.	270;251;284	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	N	251;284;270	.	ENSP00000353741:K284N	K	-	3	2	ETF1	137875073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.056000	0.41355	2.715000	0.92844	0.655000	0.94253	AAG		0.358	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
DNAH5	1767	broad.mit.edu	37	5	13769110	13769110	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13769110C>T	ENST00000265104.4	-	58	9960	c.9856G>A	c.(9856-9858)Gca>Aca	p.A3286T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3286	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3286T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTTTTGCTGCTTCCAGTTTT	0.463									Kartagener syndrome																												p.A3286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9856A	5						.						224.0	210.0	215.0					5																	13769110		2203	4300	6503	13822110	SO:0001583	missense	1767	exon58	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9856G>A	5.37:g.13769110C>T	ENSP00000265104:p.Ala3286Thr		13822110	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172107	0.94807	.	.	ENSG00000039139	ENST00000265104	T	0.74209	-0.82	5.76	4.89	0.63831	Dynein heavy chain, coiled coil stalk (1);	0.049230	0.85682	N	0.000000	D	0.89656	0.6778	H	0.95043	3.615	0.80722	D	1	D	0.56521	0.976	D	0.66979	0.948	D	0.92595	0.6086	10	0.66056	D	0.02	.	15.2786	0.73764	0.0:0.9325:0.0:0.0675	.	3286	Q8TE73	DYH5_HUMAN	T	3286	ENSP00000265104:A3286T	ENSP00000265104:A3286T	A	-	1	0	DNAH5	13822110	1.000000	0.71417	0.978000	0.43139	0.978000	0.69477	3.309000	0.51903	1.575000	0.49775	0.655000	0.94253	GCA		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CTNNA1	1495	broad.mit.edu	37	5	138117662	138117662	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138117662A>C	ENST00000302763.7	+	2	139	c.49A>C	c.(49-51)Agt>Cgt	p.S17R	CTNNA1_ENST00000518825.1_Missense_Mutation_p.S17R|CTNNA1_ENST00000355078.5_5'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	17	Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.S17R(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGATCCTAAAAGTCTAGAGAT	0.388																																					p.S17R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A49C	5						.						85.0	78.0	81.0					5																	138117662		2203	4300	6503	138145561	SO:0001583	missense	1495	exon2			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.49A>C	5.37:g.138117662A>C	ENSP00000304669:p.Ser17Arg		138145561	NM_001903	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985685	0.53934	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000524127;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T;T;T	0.73152	-0.16;-0.17;0.83;-0.72;-0.16;1.6;0.4;-0.14;0.26;1.59	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	L	0.45581	1.43	0.80722	D	1	B;P	0.36683	0.02;0.565	B;B	0.41088	0.012;0.347	T	0.70568	-0.4836	10	0.49607	T	0.09	-12.2844	16.0937	0.81106	1.0:0.0:0.0:0.0	.	17;17	G3XAM7;P35221	.;CTNA1_HUMAN	R	17	ENSP00000428439:S17R;ENSP00000429636:S17R;ENSP00000428049:S17R;ENSP00000430304:S17R;ENSP00000428202:S17R;ENSP00000304669:S17R;ENSP00000428457:S17R;ENSP00000430078:S17R;ENSP00000429457:S17R;ENSP00000427821:S17R	ENSP00000304669:S17R	S	+	1	0	CTNNA1	138145561	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	9.248000	0.95456	2.281000	0.76405	0.528000	0.53228	AGT		0.388	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
LRRTM2	26045	broad.mit.edu	37	5	138209445	138209445	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138209445C>A	ENST00000274711.6	-	2	1183	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	LRRTM2_ENST00000518785.1_3'UTR|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000523537.1_5'Flank|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	269					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D269Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTGTCAAGTCGATGGCTTTG	0.413																																					p.D269Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805T	5						.						286.0	279.0	282.0					5																	138209445		1923	4139	6062	138237344	SO:0001583	missense	26045	exon2			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.805G>T	5.37:g.138209445C>A	ENSP00000274711:p.Asp269Tyr		138237344	NM_015564	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624717	0.46840	.	.	ENSG00000146006	ENST00000274711	T	0.04862	3.54	5.48	5.48	0.80851	.	0.195195	0.44688	D	0.000430	T	0.20088	0.0483	M	0.62209	1.925	0.49389	D	0.99978	D;D	0.61697	0.967;0.99	P;P	0.56788	0.806;0.802	T	0.00017	-1.2378	10	0.72032	D	0.01	.	19.1486	0.93479	0.0:1.0:0.0:0.0	.	135;269	B7Z4G4;O43300	.;LRRT2_HUMAN	Y	269	ENSP00000274711:D269Y	ENSP00000274711:D269Y	D	-	1	0	LRRTM2	138237344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.865000	0.69583	2.861000	0.98227	0.650000	0.86243	GAC		0.413	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2		
LRRTM2	26045	broad.mit.edu	37	5	138209781	138209781	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138209781G>A	ENST00000274711.6	-	2	847	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LRRTM2_ENST00000518785.1_Missense_Mutation_p.S14L|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000523537.1_5'UTR|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	157					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R157W(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAGCTTCCGAAGGCCATAG	0.483																																					p.R157W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C469T	5						.						46.0	47.0	47.0					5																	138209781		1890	4130	6020	138237680	SO:0001583	missense	26045	exon2			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.469C>T	5.37:g.138209781G>A	ENSP00000274711:p.Arg157Trp		138237680	NM_015564	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	CCDS47272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.63|10.63	1.403305|1.403305	0.25291|0.25291	.|.	.|.	ENSG00000146006|ENSG00000146006	ENST00000274711|ENST00000518785	T|.	0.60171|.	0.21|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74268|0.74268	0.3694|0.3694	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.996;1.0|.	T|T	0.75402|0.75402	-0.3330|-0.3330	10|6	0.66056|0.87932	D|D	0.02|0	.|.	19.1682|19.1682	0.93565|0.93565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;157|.	B7Z4G4;O43300|.	.;LRRT2_HUMAN|.	W|L	157|14	ENSP00000274711:R157W|.	ENSP00000274711:R157W|ENSP00000428398:S14L	R|S	-|-	1|2	2|0	LRRTM2|LRRTM2	138237680|138237680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.140000|6.140000	0.71738|0.71738	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.483	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2		
DNAH5	1767	broad.mit.edu	37	5	13777394	13777394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13777394C>A	ENST00000265104.4	-	54	9126	c.9022G>T	c.(9022-9024)Gga>Tga	p.G3008*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3008	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G3008*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTGATTCCTTTGCCTTGC	0.333									Kartagener syndrome																												p.G3008X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9022T	5						.						114.0	108.0	110.0					5																	13777394		2203	4300	6503	13830394	SO:0001587	stop_gained	1767	exon54	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9022G>T	5.37:g.13777394C>A	ENSP00000265104:p.Gly3008*		13830394	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	52	18.620224	0.99908	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1972	0.93695	0.0:1.0:0.0:0.0	.	.	.	.	X	3008	.	ENSP00000265104:G3008X	G	-	1	0	DNAH5	13830394	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.684000	0.84104	2.532000	0.85374	0.655000	0.94253	GGA		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
LRRTM2	26045	broad.mit.edu	37	5	138210022	138210022	+	Silent	SNP	G	G	A	rs183535931		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138210022G>A	ENST00000274711.6	-	2	606	c.228C>T	c.(226-228)ctC>ctT	p.L76L	LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	76					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L76L(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATCTCTTTCGAGCTCTGTGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18091	0.001		0.0	False		,,,				2504	0.0				p.L76L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228T	5						.	G	,	0,3870		0,0,1935	79.0	76.0	77.0		,228	-7.2	0.9	5		77	1,8309		0,1,4154	no	intron,coding-synonymous	CTNNA1,LRRTM2	NM_001903.2,NM_015564.2	,	0,1,6089	AA,AG,GG		0.012,0.0,0.0082	,	,76/517	138210022	1,12179	1935	4155	6090	138237921	SO:0001819	synonymous_variant	26045	exon2			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.228C>T	5.37:g.138210022G>A			138237921	NM_015564	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Silent	SNP	ENST00000274711.6	37	CCDS47272.1																																																																																				0.463	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2		
DNAH5	1767	broad.mit.edu	37	5	13792162	13792162	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13792162G>A	ENST00000265104.4	-	50	8493	c.8389C>T	c.(8389-8391)Ctt>Ttt	p.L2797F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2797	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L2797F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACCCGAGAAAGATCTCGTAGG	0.418									Kartagener syndrome																												p.L2797F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8389T	5						.						91.0	89.0	89.0					5																	13792162		2203	4300	6503	13845162	SO:0001583	missense	1767	exon50	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8389C>T	5.37:g.13792162G>A	ENSP00000265104:p.Leu2797Phe		13845162	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608284	0.87258	.	.	ENSG00000039139	ENST00000265104	T	0.42513	0.97	5.42	4.53	0.55603	.	0.060929	0.64402	D	0.000003	T	0.65698	0.2716	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70648	-0.4814	10	0.59425	D	0.04	.	15.685	0.77402	0.0:0.0:0.8617:0.1383	.	2797	Q8TE73	DYH5_HUMAN	F	2797	ENSP00000265104:L2797F	ENSP00000265104:L2797F	L	-	1	0	DNAH5	13845162	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.607000	0.74163	1.385000	0.46445	0.591000	0.81541	CTT		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13793683	13793683	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13793683C>A	ENST00000265104.4	-	49	8269	c.8165G>T	c.(8164-8166)aGg>aTg	p.R2722M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2722	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2722M(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGAACTGCCTCTTGAGTCT	0.498									Kartagener syndrome																												p.R2722M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8165T	5						.						160.0	161.0	160.0					5																	13793683		2203	4300	6503	13846683	SO:0001583	missense	1767	exon49	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8165G>T	5.37:g.13793683C>A	ENSP00000265104:p.Arg2722Met		13846683	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191014	0.78789	.	.	ENSG00000039139	ENST00000265104	T	0.48201	0.82	5.7	4.83	0.62350	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91756	0.5416	10	0.87932	D	0	.	16.1629	0.81732	0.1343:0.8657:0.0:0.0	.	2722	Q8TE73	DYH5_HUMAN	M	2722	ENSP00000265104:R2722M	ENSP00000265104:R2722M	R	-	2	0	DNAH5	13846683	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	7.687000	0.84139	1.400000	0.46741	0.557000	0.71058	AGG		0.498	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13807783	13807783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13807783C>A	ENST00000265104.4	-	47	7908	c.7804G>T	c.(7804-7806)Gga>Tga	p.G2602*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2602	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2602*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACATAAATCCTTTAATTATT	0.348									Kartagener syndrome																												p.G2602X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7804T	5						.						124.0	118.0	120.0					5																	13807783		2203	4300	6503	13860783	SO:0001587	stop_gained	1767	exon47	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7804G>T	5.37:g.13807783C>A	ENSP00000265104:p.Gly2602*		13860783	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	49	15.058656	0.99820	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.87	5.87	0.94306	.	0.103153	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.5043	0.84266	0.1313:0.8687:0.0:0.0	.	.	.	.	X	2602	.	ENSP00000265104:G2602X	G	-	1	0	DNAH5	13860783	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.058000	0.57463	2.770000	0.95276	0.650000	0.86243	GGA		0.348	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
SIL1	64374	broad.mit.edu	37	5	138287545	138287545	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138287545C>T	ENST00000394817.2	-	8	935	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Missense_Mutation_p.E266K|SIL1_ENST00000509534.1_Missense_Mutation_p.E273K	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	266					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)	p.E266K(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCCCCCTTCGATGGCCTCC	0.627									Marinesco-Sjgren syndrome																												p.E266K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796A	5						.						113.0	105.0	108.0					5																	138287545		2203	4300	6503	138315444	SO:0001583	missense	64374	exon9	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.796G>A	5.37:g.138287545C>T	ENSP00000378294:p.Glu266Lys		138315444	NM_001037633	D3DQC2|Q8N2L3	Missense_Mutation	SNP	ENST00000394817.2	37	CCDS4209.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759218	0.89843	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000505945	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.052151	0.85682	D	0.000000	T	0.70263	0.3204	M	0.84948	2.725	0.54753	D	0.999987	P;D;D	0.76494	0.468;0.999;0.997	B;P;P	0.59171	0.089;0.853;0.775	T	0.72507	-0.4272	10	0.37606	T	0.19	-11.3637	14.6129	0.68529	0.0:1.0:0.0:0.0	.	72;273;266	A0RZB6;D6REA1;Q9H173	.;.;SIL1_HUMAN	K	266;266;181;273;72	ENSP00000378294:E266K;ENSP00000265195:E266K;ENSP00000426858:E273K;ENSP00000425136:E72K	ENSP00000265195:E266K	E	-	1	0	SIL1	138315444	1.000000	0.71417	0.907000	0.35723	0.716000	0.41182	6.234000	0.72326	2.471000	0.83476	0.655000	0.94253	GAA		0.627	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464	
CLPTM1L	81037	broad.mit.edu	37	5	1334416	1334416	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:1334416G>A	ENST00000320895.5	-	7	1136	c.879C>T	c.(877-879)gtC>gtT	p.V293V	CLPTM1L_ENST00000320927.6_Silent_p.V293V|CLPTM1L_ENST00000507807.1_Silent_p.V160V	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	293					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V293V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGAACGCTGCGACAAAGAAGG	0.547																																					p.V293V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C879T	5						.						86.0	91.0	89.0					5																	1334416		2203	4300	6503	1387416	SO:0001819	synonymous_variant	81037	exon7			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.879C>T	5.37:g.1334416G>A			1387416	NM_030782	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	CCDS3862.1																																																																																				0.547	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	
MATR3	9782	broad.mit.edu	37	5	138661220	138661220	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138661220C>A	ENST00000394805.3	+	13	2575	c.2240C>A	c.(2239-2241)tCt>tAt	p.S747Y	MATR3_ENST00000502929.1_Missense_Mutation_p.S795Y|MATR3_ENST00000504203.1_Missense_Mutation_p.S409Y|MATR3_ENST00000510056.1_Missense_Mutation_p.S747Y|MATR3_ENST00000361059.2_Missense_Mutation_p.S747Y|MATR3_ENST00000503811.1_Missense_Mutation_p.S459Y|MATR3_ENST00000509990.1_Missense_Mutation_p.S747Y|MATR3_ENST00000502499.1_Missense_Mutation_p.S409Y|MATR3_ENST00000394800.2_Missense_Mutation_p.S795Y	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	747					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.S747Y(1)|p.S183Y(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGTGCTGAATCTTCTGAGAAC	0.403																																					p.S747Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2240A	5						.						95.0	94.0	95.0					5																	138661220		2203	4300	6503	138689119	SO:0001583	missense	9782	exon13			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2240C>A	5.37:g.138661220C>A	ENSP00000378284:p.Ser747Tyr		138689119	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937252	0.73557	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811;ENST00000337359	T;T;T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	4.64	4.64	0.57946	.	0.563097	0.20196	N	0.097205	T	0.78033	0.4220	N	0.14661	0.345	0.38400	D	0.945644	P;P;P;D;P	0.63880	0.875;0.826;0.875;0.993;0.826	B;B;B;D;B	0.66196	0.198;0.446;0.198;0.942;0.446	T	0.81006	-0.1128	10	0.46703	T	0.11	-7.8094	16.2359	0.82375	0.0:1.0:0.0:0.0	.	459;747;459;795;747	B7ZAV5;D6REM6;B4DRS1;A8MXP9;P43243	.;.;.;.;MATR3_HUMAN	Y	747;747;409;795;795;747;409;747;459;183	ENSP00000423533:S747Y;ENSP00000354346:S747Y;ENSP00000421218:S409Y;ENSP00000422319:S795Y;ENSP00000378279:S795Y;ENSP00000378284:S747Y;ENSP00000426030:S409Y;ENSP00000426743:S747Y;ENSP00000423587:S459Y	ENSP00000338208:S183Y	S	+	2	0	MATR3	138689119	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	1.610000	0.36869	2.575000	0.86900	0.650000	0.86243	TCT		0.403	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
SLC23A1	9963	broad.mit.edu	37	5	138718271	138718271	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138718271C>T	ENST00000348729.3	-	2	106	c.60G>A	c.(58-60)tcG>tcA	p.S20S	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000353963.3_Silent_p.S20S	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	20					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.S20S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTAGCGGGGTCGAGGGGTCCC	0.552																																					p.S20S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G60A	5						.						110.0	93.0	99.0					5																	138718271		2203	4300	6503	138746170	SO:0001819	synonymous_variant	9963	exon2			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.60G>A	5.37:g.138718271C>T			138746170	NM_005847	O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	CCDS4212.1																																																																																				0.552	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
DNAH5	1767	broad.mit.edu	37	5	13830838	13830838	+	Missense_Mutation	SNP	C	C	A	rs143894811		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13830838C>A	ENST00000265104.4	-	36	6033	c.5929G>T	c.(5929-5931)Gcc>Tcc	p.A1977S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1977	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1977S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGCAGGGGCTCCCCCCATG	0.512									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		16942	0.0		0.0	False		,,,				2504	0.0				p.A1977S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5929T	5						.						116.0	113.0	114.0					5																	13830838		2203	4300	6503	13883838	SO:0001583	missense	1767	exon36	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5929G>T	5.37:g.13830838C>A	ENSP00000265104:p.Ala1977Ser		13883838	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.4	4.523966	0.85600	.	.	ENSG00000039139	ENST00000265104	T	0.13657	2.57	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.52126	1.63	0.80722	D	1	P	0.50369	0.934	P	0.55824	0.785	T	0.00186	-1.1942	10	0.33141	T	0.24	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	1977	Q8TE73	DYH5_HUMAN	S	1977	ENSP00000265104:A1977S	ENSP00000265104:A1977S	A	-	1	0	DNAH5	13883838	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	GCC		0.512	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13839610	13839610	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13839610C>A	ENST00000265104.4	-	35	5841	c.5737G>T	c.(5737-5739)Gac>Tac	p.D1913Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1913	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1913Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTCAAAGTCCATGGGACTC	0.353									Kartagener syndrome																												p.D1913Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5737T	5						.						87.0	84.0	85.0					5																	13839610		2203	4300	6503	13892610	SO:0001583	missense	1767	exon35	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5737G>T	5.37:g.13839610C>A	ENSP00000265104:p.Asp1913Tyr		13892610	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477987	0.63849	.	.	ENSG00000039139	ENST00000265104	T	0.30448	1.53	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83023	-0.0166	10	0.87932	D	0	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	1913	Q8TE73	DYH5_HUMAN	Y	1913	ENSP00000265104:D1913Y	ENSP00000265104:D1913Y	D	-	1	0	DNAH5	13892610	1.000000	0.71417	0.949000	0.38748	0.382000	0.30200	7.792000	0.85828	2.300000	0.77407	0.650000	0.86243	GAC		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAJC18	202052	broad.mit.edu	37	5	138755806	138755806	+	Silent	SNP	C	C	T	rs575204241		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138755806C>T	ENST00000302060.5	-	7	968	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	296						integral component of membrane (GO:0016021)		p.E296E(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTATTGTTTTCTCCAAGTCAT	0.413																																					p.E296E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G888A	5						.						146.0	139.0	142.0					5																	138755806		2203	4300	6503	138783705	SO:0001819	synonymous_variant	202052	exon7			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.888G>A	5.37:g.138755806C>T			138783705	NM_152686		Silent	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	C	0.153	-1.089332	0.01873	.	.	ENSG00000170464	ENST00000514052	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	T	0.74558	0.3732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72814	-0.4179	4	.	.	.	-1.5866	18.1041	0.89515	0.0:1.0:0.0:0.0	.	.	.	.	K	88	.	.	R	-	2	0	DNAJC18	138783705	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	3.018000	0.49625	2.623000	0.88846	0.561000	0.74099	AGA		0.413	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
DNAH5	1767	broad.mit.edu	37	5	13868025	13868025	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13868025T>C	ENST00000265104.4	-	25	4015	c.3911A>G	c.(3910-3912)tAt>tGt	p.Y1304C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1304	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y1304C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCCAAGCATAGTGCAGTGT	0.418									Kartagener syndrome																												p.Y1304C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3911G	5						.						120.0	103.0	109.0					5																	13868025		2203	4300	6503	13921025	SO:0001583	missense	1767	exon25	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3911A>G	5.37:g.13868025T>C	ENSP00000265104:p.Tyr1304Cys		13921025	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.692056	0.48097	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.12	5.12	0.69794	.	0.131039	0.52532	D	0.000064	T	0.57695	0.2071	M	0.91818	3.245	0.58432	D	0.999997	D	0.76494	0.999	D	0.68765	0.96	T	0.65981	-0.6036	10	0.42905	T	0.14	.	14.9244	0.70866	0.0:0.0:0.0:1.0	.	1304	Q8TE73	DYH5_HUMAN	C	1304	ENSP00000265104:Y1304C	ENSP00000265104:Y1304C	Y	-	2	0	DNAH5	13921025	1.000000	0.71417	0.613000	0.29037	0.827000	0.46813	5.806000	0.69150	1.941000	0.56285	0.533000	0.62120	TAT		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13871031	13871031	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13871031T>C	ENST00000265104.4	-	24	3783	c.3679A>G	c.(3679-3681)Agt>Ggt	p.S1227G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1227	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1227G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCTCACTCCGGTATTTT	0.408									Kartagener syndrome																												p.S1227G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3679G	5						.						105.0	105.0	105.0					5																	13871031		2203	4300	6503	13924031	SO:0001583	missense	1767	exon24	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3679A>G	5.37:g.13871031T>C	ENSP00000265104:p.Ser1227Gly		13924031	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670168	0.29693	.	.	ENSG00000039139	ENST00000265104	T	0.24151	1.87	5.84	3.34	0.38264	.	0.496735	0.23620	N	0.046253	T	0.15609	0.0376	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.27082	T	0.32	.	4.241	0.10648	0.1242:0.0668:0.1297:0.6793	.	1227	Q8TE73	DYH5_HUMAN	G	1227	ENSP00000265104:S1227G	ENSP00000265104:S1227G	S	-	1	0	DNAH5	13924031	0.038000	0.19896	0.996000	0.52242	0.993000	0.82548	1.046000	0.30354	0.420000	0.25954	0.533000	0.62120	AGT		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13871755	13871755	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13871755C>A	ENST00000265104.4	-	23	3620	c.3516G>T	c.(3514-3516)caG>caT	p.Q1172H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1172	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1172H(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATAGAGAATCTGGGACTCAA	0.398									Kartagener syndrome																												p.Q1172H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3516T	5						.						122.0	136.0	131.0					5																	13871755		2203	4300	6503	13924755	SO:0001583	missense	1767	exon23	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3516G>T	5.37:g.13871755C>A	ENSP00000265104:p.Gln1172His		13924755	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473058	0.43942	.	.	ENSG00000039139	ENST00000265104	T	0.25085	1.82	5.99	5.99	0.97316	.	0.176544	0.51477	D	0.000091	T	0.26991	0.0661	L	0.56769	1.78	0.53688	D	0.999971	B	0.02656	0.0	B	0.08055	0.003	T	0.02950	-1.1090	10	0.54805	T	0.06	.	11.3742	0.49717	0.0:0.8925:0.0:0.1075	.	1172	Q8TE73	DYH5_HUMAN	H	1172	ENSP00000265104:Q1172H	ENSP00000265104:Q1172H	Q	-	3	2	DNAH5	13924755	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.691000	0.61738	2.840000	0.97914	0.655000	0.94253	CAG		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13876877	13876877	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13876877C>A	ENST00000265104.4	-	22	3416	c.3312G>T	c.(3310-3312)aaG>aaT	p.K1104N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1104	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1104N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATAATAGTTCTTGGTTTGCA	0.333									Kartagener syndrome																												p.K1104N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3312T	5						.						92.0	100.0	97.0					5																	13876877		2203	4300	6503	13929877	SO:0001583	missense	1767	exon22	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3312G>T	5.37:g.13876877C>A	ENSP00000265104:p.Lys1104Asn		13929877	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221489	0.39300	.	.	ENSG00000039139	ENST00000265104	T	0.24350	1.86	5.5	3.68	0.42216	.	0.313497	0.38326	N	0.001722	T	0.14270	0.0345	N	0.16790	0.44	0.46028	D	0.998822	B	0.06786	0.001	B	0.09377	0.004	T	0.05767	-1.0865	10	0.51188	T	0.08	.	6.7977	0.23734	0.1472:0.7116:0.0:0.1412	.	1104	Q8TE73	DYH5_HUMAN	N	1104	ENSP00000265104:K1104N	ENSP00000265104:K1104N	K	-	3	2	DNAH5	13929877	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.088000	0.30877	1.442000	0.47568	-0.181000	0.13052	AAG		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13885136	13885136	+	Missense_Mutation	SNP	C	C	T	rs200704983		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13885136C>T	ENST00000265104.4	-	19	3049	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	982	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R982H(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATACGTTTGCGAATGGCCTC	0.443									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16035	0.001		0.0	False		,,,				2504	0.0				p.R982H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2945A	5						.						126.0	118.0	121.0					5																	13885136		2203	4300	6503	13938136	SO:0001583	missense	1767	exon19	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2945G>A	5.37:g.13885136C>T	ENSP00000265104:p.Arg982His		13938136	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.0	4.237217	0.79800	.	.	ENSG00000039139	ENST00000265104	T	0.25579	1.79	5.73	5.73	0.89815	.	0.056303	0.64402	D	0.000001	T	0.35885	0.0947	M	0.78049	2.395	0.80722	D	1	B	0.30179	0.271	B	0.26310	0.068	T	0.21109	-1.0255	10	0.59425	D	0.04	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	982	Q8TE73	DYH5_HUMAN	H	982	ENSP00000265104:R982H	ENSP00000265104:R982H	R	-	2	0	DNAH5	13938136	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.251000	0.78297	2.722000	0.93159	0.655000	0.94253	CGC		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PSD2	84249	broad.mit.edu	37	5	139217238	139217238	+	Missense_Mutation	SNP	C	C	T	rs370966922		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:139217238C>T	ENST00000274710.3	+	12	1899	c.1694C>T	c.(1693-1695)tCg>tTg	p.S565L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	565	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.S565L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCTCTATCGGAGGGTGAC	0.592																																					p.S565L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1694T	5						.	C	LEU/SER	0,4406		0,0,2203	105.0	86.0	93.0		1694	5.3	1.0	5		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	PSD2	NM_032289.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	565/772	139217238	1,13005	2203	4300	6503	139197422	SO:0001583	missense	84249	exon12			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1694C>T	5.37:g.139217238C>T	ENSP00000274710:p.Ser565Leu		139197422	NM_032289	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071408	0.93950	0.0	1.16E-4	ENSG00000146005	ENST00000274710	T	0.78924	-1.22	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.63113	0.911	D	0.85938	0.1456	10	0.30854	T	0.27	.	18.9763	0.92738	0.0:1.0:0.0:0.0	.	565	Q9BQI7	PSD2_HUMAN	L	565	ENSP00000274710:S565L	ENSP00000274710:S565L	S	+	2	0	PSD2	139197422	1.000000	0.71417	0.982000	0.44146	0.934000	0.57294	7.778000	0.85637	2.482000	0.83794	0.478000	0.44815	TCG		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
PFDN1	5201	broad.mit.edu	37	5	139661036	139661036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:139661036C>A	ENST00000261813.4	-	3	330	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000510217.1_3'UTR|PFDN1_ENST00000524074.1_Nonsense_Mutation_p.E95*|PFDN1_ENST00000514611.1_Intron	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	95					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E95*(1)		endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACTTACTTCTAGTTCTTTA	0.328																																					p.E95X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G283T	5						.						85.0	77.0	80.0					5																	139661036		2201	4295	6496	139641220	SO:0001587	stop_gained	5201	exon3			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.283G>T	5.37:g.139661036C>A	ENSP00000261813:p.Glu95*		139641220	NM_002622	B2RD02|Q53F95|Q96EX6	Nonsense_Mutation	SNP	ENST00000261813.4	37	CCDS4222.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983716	0.93044	.	.	ENSG00000113068	ENST00000261813;ENST00000524074	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.3262	17.8368	0.88700	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000261813:E95X	E	-	1	0	PFDN1	139641220	1.000000	0.71417	0.994000	0.49952	0.881000	0.50899	5.144000	0.64832	2.751000	0.94390	0.650000	0.86243	GAA		0.328	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622	
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13920716C>T	ENST00000265104.4	-	6	775	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	224	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCACACTTTCGAAGGTTCAC	0.393									Kartagener syndrome																												p.R224Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G671A	5						.						106.0	103.0	104.0					5																	13920716		2202	4299	6501	13973716	SO:0001583	missense	1767	exon6	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.671G>A	5.37:g.13920716C>T	ENSP00000265104:p.Arg224Gln		13973716	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	.	2.481	-0.319707	0.05386	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	6.07	3.46	0.39613	.	0.160905	0.52532	N	0.000074	T	0.09512	0.0234	N	0.08118	0	0.21933	N	0.999469	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	10	0.12103	T	0.63	.	10.1659	0.42879	0.0:0.1769:0.0:0.8231	.	224	Q8TE73	DYH5_HUMAN	Q	224	ENSP00000265104:R224Q	ENSP00000265104:R224Q	R	-	2	0	DNAH5	13973716	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.758000	0.62220	0.190000	0.20209	-1.851000	0.00568	CGA		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13923496	13923496	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13923496G>T	ENST00000265104.4	-	4	435	c.331C>A	c.(331-333)Cct>Act	p.P111T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	111	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P111T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACACCTTAGGTTTTTTAATC	0.428									Kartagener syndrome																												p.P111T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	5						.						137.0	135.0	136.0					5																	13923496		2203	4300	6503	13976496	SO:0001583	missense	1767	exon4	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.331C>A	5.37:g.13923496G>T	ENSP00000265104:p.Pro111Thr		13976496	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178225	0.21787	.	.	ENSG00000039139	ENST00000265104	T	0.22336	1.96	5.68	5.68	0.88126	.	0.179769	0.49916	D	0.000137	T	0.25754	0.0627	L	0.57536	1.79	0.42313	D	0.992225	B	0.09022	0.002	B	0.09377	0.004	T	0.04900	-1.0919	10	0.23302	T	0.38	.	19.7966	0.96487	0.0:0.0:1.0:0.0	.	111	Q8TE73	DYH5_HUMAN	T	111	ENSP00000265104:P111T	ENSP00000265104:P111T	P	-	1	0	DNAH5	13976496	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	1.606000	0.36826	2.676000	0.91093	0.650000	0.86243	CCT		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13928280	13928280	+	Missense_Mutation	SNP	C	C	A	rs563017861		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:13928280C>A	ENST00000265104.4	-	3	304	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	67	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R67I(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGATCAATTCTTTCAATCTG	0.318									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		19786	0.0		0.0	False		,,,				2504	0.0				p.R67I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200T	5						.						87.0	89.0	88.0					5																	13928280		2203	4300	6503	13981280	SO:0001583	missense	1767	exon3	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.200G>T	5.37:g.13928280C>A	ENSP00000265104:p.Arg67Ile		13981280	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010598	0.35511	.	.	ENSG00000039139	ENST00000265104	T	0.23754	1.89	5.21	4.33	0.51752	.	0.105878	0.64402	D	0.000004	T	0.21227	0.0511	L	0.38838	1.175	0.80722	D	1	B	0.23650	0.089	B	0.23275	0.045	T	0.03221	-1.1059	10	0.37606	T	0.19	.	13.518	0.61551	0.0:0.9245:0.0:0.0755	.	67	Q8TE73	DYH5_HUMAN	I	67	ENSP00000265104:R67I	ENSP00000265104:R67I	R	-	2	0	DNAH5	13981280	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	4.318000	0.59190	2.589000	0.87451	0.655000	0.94253	AGA		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
SLC4A9	83697	broad.mit.edu	37	5	139751880	139751880	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:139751880G>T	ENST00000230993.6	+	20	2831	c.2796G>T	c.(2794-2796)caG>caT	p.Q932H	SLC4A9_ENST00000506757.2_Missense_Mutation_p.Q908H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Q845H|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000432095.2_Missense_Mutation_p.Q894H|SLC4A9_ENST00000507527.1_Missense_Mutation_p.Q932H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	932	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.Q906H(1)|p.Q932H(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCACCACAGGAACTCCTCT	0.567																																					p.Q908H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2724T	5						.						32.0	33.0	33.0					5																	139751880		1887	4107	5994	139732064	SO:0001583	missense	83697	exon20			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2796G>T	5.37:g.139751880G>T	ENSP00000230993:p.Gln932His		139732064	NM_031467	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655255	0.14580	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.89	2.09	0.27110	.	0.096923	0.44097	D	0.000491	T	0.36413	0.0966	N	0.02736	-0.51	0.32296	N	0.565595	D;B;B;B	0.63046	0.992;0.282;0.055;0.069	D;B;B;B	0.72075	0.976;0.043;0.051;0.069	T	0.43925	-0.9361	10	0.21014	T	0.42	.	0.7754	0.01031	0.2401:0.1312:0.3785:0.2501	.	845;932;894;908	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	H	932;908;894;845;932	ENSP00000230993:Q932H;ENSP00000424424:Q908H;ENSP00000410056:Q894H;ENSP00000422855:Q845H;ENSP00000427661:Q932H	ENSP00000230993:Q932H	Q	+	3	2	SLC4A9	139732064	0.005000	0.15991	1.000000	0.80357	0.991000	0.79684	-1.112000	0.03299	0.252000	0.21531	-0.312000	0.09012	CAG		0.567	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467	
ANKHD1	54882	broad.mit.edu	37	5	139906001	139906001	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:139906001G>T	ENST00000360839.2	+	26	5067	c.4913G>T	c.(4912-4914)aGt>aTt	p.S1638I	ANKHD1_ENST00000297183.6_Missense_Mutation_p.S1638I|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S1638I|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S21I	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1638						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S1638I(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGACAAGTACTGCTACT	0.388																																					p.S1638I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4913T	5						.						93.0	98.0	96.0					5																	139906001		2203	4299	6502	139886185	SO:0001583	missense	404734	exon26			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4913G>T	5.37:g.139906001G>T	ENSP00000354085:p.Ser1638Ile		139886185	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.461|2.461	-0.324195|-0.324195	0.05350|0.05350	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219	.|T;T;T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9;2.0;1.9	5.34|5.34	1.23|1.23	0.21249|0.21249	.|.	.|0.350607	.|0.33419	.|N	.|0.004928	T|T	0.15349|0.15349	0.0370|0.0370	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.001;0.0;0.0	T|T	0.15521|0.15521	-1.0434|-1.0434	5|10	.|0.38643	.|T	.|0.18	.|.	4.8833|4.8833	0.13690|0.13690	0.2925:0.0:0.5393:0.1682|0.2925:0.0:0.5393:0.1682	.|.	.|21;68;1638;1638;1638;1638	.|Q8IWG5;Q9H059;E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	N|I	128;88|1638;1638;1638;294;73;160;21;1638	.|ENSP00000354085:S1638I;ENSP00000297183:S1638I;ENSP00000393204:S294I;ENSP00000390034:S160I;ENSP00000437687:S21I;ENSP00000432016:S1638I	.|ENSP00000432016:S1638I	K|S	+|+	3|2	2|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139886185|139886185	0.759000|0.759000	0.28416|0.28416	0.017000|0.017000	0.16124|0.16124	0.075000|0.075000	0.17131|0.17131	1.861000|1.861000	0.39438|0.39438	0.145000|0.145000	0.18977|0.18977	-0.142000|-0.142000	0.14014|0.14014	AAG|AGT		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
ANKHD1	54882	broad.mit.edu	37	5	139909017	139909017	+	Silent	SNP	G	G	A	rs200760213		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:139909017G>A	ENST00000360839.2	+	29	6640	c.6486G>A	c.(6484-6486)acG>acA	p.T2162T	ANKHD1_ENST00000297183.6_Silent_p.T2162T|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T2162T|ANKHD1_ENST00000544120.1_Silent_p.T545T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2162						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T2162T(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTGTTACGAATCCAGTTA	0.458													A|||	1	0.000199681	0.0	0.0	5008	,	,		22338	0.0		0.001	False		,,,				2504	0.0				p.T2162T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6486A	5						.						158.0	159.0	159.0					5																	139909017		2203	4300	6503	139889201	SO:0001819	synonymous_variant	404734	exon29			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6486G>A	5.37:g.139909017G>A			139889201	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	CCDS4225.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	2.781	-0.253409	0.05829	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.35	2.8	0.32819	.	.	.	.	.	T	0.54951	0.1890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46091	-0.9216	4	.	.	.	.	6.6046	0.22718	0.6181:0.248:0.1339:0.0	.	.	.	.	K	653;613	.	.	E	+	1	0	ANKHD1	139889201	0.290000	0.24343	1.000000	0.80357	0.984000	0.73092	-0.061000	0.11693	0.472000	0.27344	-0.332000	0.08345	GAA		0.458	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
HARS2	23438	broad.mit.edu	37	5	140077256	140077256	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140077256G>A	ENST00000230771.3	+	11	1523	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	HARS2_ENST00000448069.2_Missense_Mutation_p.D262N|HARS2_ENST00000435019.2_Missense_Mutation_p.D394N|ZMAT2_ENST00000274712.3_5'Flank|HARS2_ENST00000432671.2_Missense_Mutation_p.D320N|HARS2_ENST00000437649.2_Missense_Mutation_p.D360N|HARS2_ENST00000508522.1_Missense_Mutation_p.D409N	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	434					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)|poly(A) RNA binding (GO:0044822)	p.D434N(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTTTGGGATTCTGGAAT	0.473																																					p.D434N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300A	5						.						121.0	127.0	125.0					5																	140077256		2203	4300	6503	140057440	SO:0001583	missense	23438	exon11			U18937	CCDS4238.1, CCDS64267.1	5q31.3	2012-07-20	2012-07-20	2007-02-23	ENSG00000112855	ENSG00000112855	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4817	protein-coding gene	gene with protein product	"""histidine tRNA ligase 2, mitochondrial (putative)"""	600783	"""histidyl-tRNA synthetase-like"""	HARSL		7755634, 21464306	Standard	NM_012208		Approved	HO3, HARSR	uc003lgx.3	P49590	OTTHUMG00000129500	ENST00000230771.3:c.1300G>A	5.37:g.140077256G>A	ENSP00000230771:p.Asp434Asn		140057440	NM_012208	B4DDY8	Missense_Mutation	SNP	ENST00000230771.3	37	CCDS4238.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222770	0.39300	.	.	ENSG00000112855	ENST00000230771;ENST00000435019;ENST00000437649;ENST00000432671;ENST00000508522;ENST00000448069;ENST00000427675	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.67	2.98	0.34508	Anticodon-binding (3);	0.194094	0.56097	N	0.000029	T	0.71888	0.3393	L	0.29908	0.895	0.51233	D	0.999914	B;B;B;B;B	0.23806	0.023;0.02;0.055;0.02;0.091	B;B;B;B;B	0.28991	0.042;0.06;0.085;0.06;0.097	T	0.58956	-0.7544	10	0.20046	T	0.44	-1.1668	9.1982	0.37242	0.268:0.0:0.732:0.0	.	287;262;360;409;434	E9PD60;B4DQ67;E9PG66;B4DDY8;P49590	.;.;.;.;SYHM_HUMAN	N	434;394;360;320;409;262;273	ENSP00000230771:D434N;ENSP00000412887:D394N;ENSP00000411708:D360N;ENSP00000415007:D320N;ENSP00000423616:D409N;ENSP00000407105:D262N	ENSP00000230771:D434N	D	+	1	0	HARS2	140057440	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.992000	0.56980	0.357000	0.24183	-0.126000	0.14955	GAT		0.473	HARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251670.2	NM_012208	
PCDHA1	56147	broad.mit.edu	37	5	140167282	140167282	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140167282G>A	ENST00000504120.2	+	1	1407	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHA1_ENST00000394633.3_Silent_p.P469P|PCDHA1_ENST00000378133.3_Silent_p.P469P	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P469P(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.677																																					p.P469P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1407A	5						.						55.0	62.0	60.0					5																	140167282		2203	4295	6498	140147466	SO:0001819	synonymous_variant	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1407G>A	5.37:g.140167282G>A			140147466	NM_031410	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																				0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA3	56145	broad.mit.edu	37	5	140181115	140181115	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140181115C>G	ENST00000522353.2	+	1	333	c.333C>G	c.(331-333)gaC>gaG	p.D111E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D111E	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D111E(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCGTGGACAGGCCGCTGC	0.507																																					p.D111E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C333G	5						.						123.0	137.0	132.0					5																	140181115		2203	4300	6503	140161299	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.333C>G	5.37:g.140181115C>G	ENSP00000429808:p.Asp111Glu		140161299	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	5.138	0.211047	0.09757	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.21031	2.03;2.03	4.35	2.49	0.30216	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.152498	0.29551	N	0.011832	T	0.08537	0.0212	N	0.05330	-0.07	0.09310	N	0.99999	B;B	0.18863	0.031;0.008	B;B	0.15484	0.013;0.007	T	0.38520	-0.9657	10	0.11794	T	0.64	.	7.728	0.28771	0.0:0.3715:0.4749:0.1536	.	111;111	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	111	ENSP00000429808:D111E;ENSP00000434086:D111E	ENSP00000429808:D111E	D	+	3	2	PCDHA3	140161299	0.000000	0.05858	0.660000	0.29694	0.948000	0.59901	-1.274000	0.02820	0.347000	0.23924	0.467000	0.42956	GAC		0.507	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA3	56145	broad.mit.edu	37	5	140181584	140181584	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140181584G>A	ENST00000522353.2	+	1	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D268N	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D268N(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCACCGATTTGGATGA	0.423																																					p.D268N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G802A	5						.						72.0	69.0	70.0					5																	140181584		2203	4300	6503	140161768	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.802G>A	5.37:g.140181584G>A	ENSP00000429808:p.Asp268Asn		140161768	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	18.06	3.540044	0.65085	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.74526	-0.85;-0.85	4.79	4.79	0.61399	Cadherin (5);Cadherin-like (1);	0.000000	0.42964	U	0.000623	D	0.92041	0.7478	H	0.99404	4.55	0.38396	D	0.945538	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95576	0.8642	10	0.87932	D	0	.	13.8824	0.63689	0.0:0.1529:0.8471:0.0	.	268;268	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	N	268	ENSP00000429808:D268N;ENSP00000434086:D268N	ENSP00000429808:D268N	D	+	1	0	PCDHA3	140161768	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	9.866000	0.99616	2.378000	0.81104	0.467000	0.42956	GAT		0.423	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA4	56144	broad.mit.edu	37	5	140187154	140187154	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140187154G>A	ENST00000530339.1	+	1	382	c.382G>A	c.(382-384)Gat>Aat	p.D128N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D128N|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D128N	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D128N(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATTAACGATAACCCGCC	0.602																																					p.D128N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G382A	5						.						75.0	78.0	77.0					5																	140187154		2203	4300	6503	140167338	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.382G>A	5.37:g.140187154G>A	ENSP00000435300:p.Asp128Asn		140167338	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.970463	0.74246	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64085	-0.08;-0.08;-0.08	4.62	4.62	0.57501	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.42420	U	0.000718	D	0.88336	0.6409	H	0.99211	4.47	0.43863	D	0.996461	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.93713	0.7026	10	0.87932	D	0	.	17.8071	0.88605	0.0:0.0:1.0:0.0	.	128;128;128	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	N	128	ENSP00000423470:D128N;ENSP00000349344:D128N;ENSP00000435300:D128N	ENSP00000349344:D128N	D	+	1	0	PCDHA4	140167338	1.000000	0.71417	0.997000	0.53966	0.385000	0.30292	6.591000	0.74090	2.284000	0.76573	0.563000	0.77884	GAT		0.602	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA4	56144	broad.mit.edu	37	5	140187722	140187722	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140187722A>C	ENST00000530339.1	+	1	950	c.950A>C	c.(949-951)gAa>gCa	p.E317A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E317A|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E317A	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E317A(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCCTATGAAATTATTGTA	0.363																																					p.E317A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A950C	5						.						107.0	114.0	112.0					5																	140187722		2203	4300	6503	140167906	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.950A>C	5.37:g.140187722A>C	ENSP00000435300:p.Glu317Ala		140167906	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	15.68	2.905074	0.52333	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54479	0.57;0.57;0.57	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.178185	0.26159	U	0.025995	T	0.71022	0.3291	M	0.84433	2.695	0.26225	N	0.979109	P;P;D	0.58970	0.744;0.952;0.984	P;P;D	0.64595	0.598;0.894;0.927	T	0.65492	-0.6155	10	0.87932	D	0	.	10.0983	0.42488	0.9161:0.0:0.0839:0.0	.	317;317;317	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	A	317	ENSP00000423470:E317A;ENSP00000349344:E317A;ENSP00000435300:E317A	ENSP00000349344:E317A	E	+	2	0	PCDHA4	140167906	0.928000	0.31464	0.971000	0.41717	0.985000	0.73830	3.463000	0.53050	1.735000	0.51646	0.383000	0.25322	GAA		0.363	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA4	56144	broad.mit.edu	37	5	140188590	140188590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140188590G>A	ENST00000530339.1	+	1	1818	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.W606*|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.W606*	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	606	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.W606*(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGTGGCTTTCGTACG	0.672																																					p.W606X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1818A	5						.						117.0	108.0	111.0					5																	140188590		2203	4299	6502	140168774	SO:0001587	stop_gained	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1818G>A	5.37:g.140188590G>A	ENSP00000435300:p.Trp606*		140168774	NM_031500	O75285|Q2M253	Nonsense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	37	5.983979	0.97173	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	.	.	.	4.08	4.08	0.47627	.	0.000000	0.37437	U	0.002095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6588	0.85236	0.0:0.0:1.0:0.0	.	.	.	.	X	606	.	ENSP00000349344:W606X	W	+	3	0	PCDHA4	140168774	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.953000	0.63624	2.006000	0.58801	0.484000	0.47621	TGG		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA5	56143	broad.mit.edu	37	5	140203464	140203464	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140203464G>A	ENST00000529859.1	+	1	2104	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A702T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A702T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	702					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A702T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGTGC	0.692																																					p.A702T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2104A	5						.						63.0	62.0	63.0					5																	140203464		2203	4298	6501	140183648	SO:0001583	missense	56143	exon1			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2104G>A	5.37:g.140203464G>A	ENSP00000436557:p.Ala702Thr		140183648	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057332	0.55325	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.20463	2.07;2.07;2.07	4.06	4.06	0.47325	.	.	.	.	.	T	0.54431	0.1858	M	0.93062	3.375	0.24607	N	0.993747	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.70716	0.962;0.95;0.97	T	0.53244	-0.8466	9	0.87932	D	0	.	13.255	0.60073	0.0:0.0:0.8408:0.1592	.	702;702;702	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	702	ENSP00000433416:A702T;ENSP00000436557:A702T;ENSP00000367366:A702T	ENSP00000367366:A702T	A	+	1	0	PCDHA5	140183648	0.952000	0.32445	0.996000	0.52242	0.246000	0.25737	2.041000	0.41213	1.987000	0.57996	0.491000	0.48974	GCC		0.692	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHA6	56142	broad.mit.edu	37	5	140208267	140208267	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140208267G>T	ENST00000529310.1	+	1	705	c.591G>T	c.(589-591)aaG>aaT	p.K197N	PCDHA6_ENST00000527624.1_Missense_Mutation_p.K197N|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K197N(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTATTAAAGAAATCCTTGG	0.433																																					p.K197N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G591T	5						.						67.0	72.0	70.0					5																	140208267		2203	4300	6503	140188451	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.591G>T	5.37:g.140208267G>T	ENSP00000433378:p.Lys197Asn		140188451	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	5.714	0.316181	0.10789	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.53206	0.63;0.63	3.7	-1.37	0.09056	Cadherin (4);Cadherin-like (1);	0.426470	0.16778	U	0.199907	T	0.39091	0.1065	L	0.33093	0.98	0.23872	N	0.996605	B;B;B	0.21905	0.014;0.062;0.008	B;B;B	0.37304	0.058;0.246;0.025	T	0.49799	-0.8901	10	0.72032	D	0.01	.	8.4655	0.32953	0.4739:0.0:0.5261:0.0	.	197;197;197	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	N	197	ENSP00000433378:K197N;ENSP00000434113:K197N	ENSP00000434113:K197N	K	+	3	2	PCDHA6	140188451	0.000000	0.05858	0.619000	0.29118	0.272000	0.26649	-0.268000	0.08607	-0.129000	0.11620	0.313000	0.20887	AAG		0.433	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA6	56142	broad.mit.edu	37	5	140208626	140208626	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140208626A>G	ENST00000529310.1	+	1	1064	c.950A>G	c.(949-951)aAa>aGa	p.K317R	PCDHA6_ENST00000527624.1_Missense_Mutation_p.K317R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K317R(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTATACAAAATCCTCATT	0.413																																					p.K317R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A950G	5						.						35.0	39.0	38.0					5																	140208626		2195	4278	6473	140188810	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.950A>G	5.37:g.140208626A>G	ENSP00000433378:p.Lys317Arg		140188810	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	A	3.065	-0.192315	0.06259	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01745	4.66;4.66	3.7	2.53	0.30540	Cadherin (4);Cadherin-like (1);	0.406531	0.17688	U	0.165396	T	0.01421	0.0046	N	0.13198	0.31	0.09310	N	1	B;B;B	0.19445	0.006;0.013;0.036	B;B;B	0.19666	0.026;0.026;0.026	T	0.46735	-0.9170	10	0.72032	D	0.01	.	8.0989	0.30846	0.8202:0.0:0.1798:0.0	.	317;317;317	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	R	317	ENSP00000433378:K317R;ENSP00000434113:K317R	ENSP00000434113:K317R	K	+	2	0	PCDHA6	140188810	0.014000	0.17966	0.777000	0.31699	0.022000	0.10575	2.833000	0.48159	0.599000	0.29845	0.260000	0.18958	AAA		0.413	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA6	56142	broad.mit.edu	37	5	140208972	140208972	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140208972G>A	ENST00000529310.1	+	1	1410	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA6_ENST00000527624.1_Silent_p.S432S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S432S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.622																																					p.S432S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1296A	5						.						66.0	77.0	73.0					5																	140208972		2203	4298	6501	140189156	SO:0001819	synonymous_variant	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1296G>A	5.37:g.140208972G>A			140189156	NM_018909	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																				0.622	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA8	56140	broad.mit.edu	37	5	140221233	140221233	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140221233C>T	ENST00000531613.1	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA8_ENST00000378123.3_Silent_p.I109I|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I109I(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGACAGGC	0.542																																					p.I109I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C327T	5						.						75.0	92.0	87.0					5																	140221233		2203	4297	6500	140201417	SO:0001819	synonymous_variant	56140	exon1			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.327C>T	5.37:g.140221233C>T			140201417	NM_031856	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				0.542	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA9	9752	broad.mit.edu	37	5	140229709	140229709	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140229709G>A	ENST00000532602.1	+	1	2662	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	543	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.P543P(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.682																																					p.P543P	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1629A	5						.						59.0	66.0	64.0					5																	140229709		2195	4267	6462	140209893	SO:0001819	synonymous_variant	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1629G>A	5.37:g.140229709G>A			140209893	NM_014005	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA9	9752	broad.mit.edu	37	5	140229839	140229839	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140229839G>A	ENST00000532602.1	+	1	2792	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.A587T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	587					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A587T(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGGTGGGCGCCGGCGTAGT	0.667																																					p.A587T	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1759A	5						.						51.0	58.0	56.0					5																	140229839		2196	4268	6464	140210023	SO:0001583	missense	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1759G>A	5.37:g.140229839G>A	ENSP00000436042:p.Ala587Thr		140210023	NM_014005	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.733054	0.30684	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.20598	2.06;2.06	3.36	2.44	0.29823	Cadherin (1);Cadherin-like (1);	0.289408	0.17547	U	0.170301	T	0.15176	0.0366	L	0.46885	1.475	0.09310	N	1	B;P	0.44260	0.25;0.83	B;B	0.34652	0.087;0.187	T	0.14392	-1.0474	10	0.87932	D	0	.	7.2873	0.26346	0.097:0.336:0.5671:0.0	.	587;587	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	T	587	ENSP00000436042:A587T;ENSP00000367362:A587T	ENSP00000367362:A587T	A	+	1	0	PCDHA9	140210023	0.000000	0.05858	0.406000	0.26421	0.550000	0.35303	0.196000	0.17176	0.665000	0.31066	0.313000	0.20887	GCC		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA9	9752	broad.mit.edu	37	5	140230009	140230009	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140230009G>A	ENST00000532602.1	+	1	2962	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.P643P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	643	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P643P(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGCACCGCGCCAGCGCC	0.687																																					p.P643P	Melanoma(55;1800 1972 14909)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1929A	5						.						53.0	56.0	55.0					5																	140230009		2197	4272	6469	140210193	SO:0001819	synonymous_variant	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1929G>A	5.37:g.140230009G>A			140210193	NM_014005	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.687	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA9	9752	broad.mit.edu	37	5	140230497	140230497	+	Intron	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140230497T>A	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.F806Y|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F806Y(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCattttatttatttatata	0.383																																					p.F806Y	Melanoma(55;1800 1972 14909)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2417A	5						.						25.0	29.0	28.0					5																	140230497		2076	4212	6288	140210681	SO:0001627	intron_variant	9752	exon1			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+23T>A	5.37:g.140230497T>A			140210681	NM_014005	O15053|Q2M3S5	Intron	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	t	1.288	-0.608380	0.03717	.	.	ENSG00000204961	ENST00000378122	T	0.51071	0.72	2.92	0.107	0.14544	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.20638	-1.0269	8	0.35671	T	0.21	.	7.1857	0.25799	0.4883:0.0:0.0:0.5117	.	806	Q9Y5H5-2	.	Y	806	ENSP00000367362:F806Y	ENSP00000367362:F806Y	F	+	2	0	PCDHA9	140210681	0.008000	0.16893	0.000000	0.03702	0.061000	0.15899	0.534000	0.23098	-0.099000	0.12263	-1.258000	0.01471	TTT		0.383	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PCDHA10	56139	broad.mit.edu	37	5	140235705	140235705	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140235705G>T	ENST00000307360.5	+	1	72	c.72G>T	c.(70-72)gaG>gaT	p.E24D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E24D|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	24					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E24D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTGGGAGGTGGGGAGCG	0.612																																					p.E24D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G72T	5						.						56.0	65.0	62.0					5																	140235705		2196	4272	6468	140215889	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.72G>T	5.37:g.140235705G>T	ENSP00000304234:p.Glu24Asp		140215889	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776785	0.00640	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.55234	0.53;0.63	4.31	-0.945	0.10388	.	.	.	.	.	T	0.39172	0.1068	L	0.49513	1.565	0.09310	N	1	B;B;B	0.18013	0.008;0.025;0.003	B;B;B	0.20577	0.03;0.021;0.017	T	0.28138	-1.0053	9	0.25106	T	0.35	.	3.6019	0.08028	0.2726:0.1051:0.5101:0.1122	.	24;24;24	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	D	24	ENSP00000421030:E24D;ENSP00000304234:E24D	ENSP00000304234:E24D	E	+	3	2	PCDHA10	140215889	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.018000	0.12568	-0.323000	0.08602	-1.134000	0.01955	GAG		0.612	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA10	56139	broad.mit.edu	37	5	140236002	140236002	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140236002G>T	ENST00000307360.5	+	1	369	c.369G>T	c.(367-369)aaG>aaT	p.K123N	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.K123N|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	123	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K123N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGTGAAGGACATTAACG	0.557																																					p.K123N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G369T	5						.						130.0	131.0	130.0					5																	140236002		2198	4275	6473	140216186	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.369G>T	5.37:g.140236002G>T	ENSP00000304234:p.Lys123Asn		140216186	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993554	0.19043	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.55234	0.53;0.64	4.45	2.67	0.31697	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.57169	0.2035	L	0.52573	1.65	0.22975	N	0.99849	D;P;P	0.57571	0.98;0.711;0.868	P;B;P	0.58577	0.841;0.365;0.452	T	0.42616	-0.9441	9	0.27082	T	0.32	.	8.0579	0.30617	0.1474:0.13:0.7225:0.0	.	123;123;123	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	N	123	ENSP00000421030:K123N;ENSP00000304234:K123N	ENSP00000304234:K123N	K	+	3	2	PCDHA10	140216186	0.000000	0.05858	0.961000	0.40146	0.798000	0.45092	-0.293000	0.08320	0.640000	0.30582	0.556000	0.70494	AAG		0.557	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA10	56139	broad.mit.edu	37	5	140236519	140236519	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140236519G>A	ENST00000307360.5	+	1	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E296K|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E296K(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGATAAACGAAAGGACGGG	0.373																																					p.E296K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G886A	5						.						76.0	74.0	75.0					5																	140236519		2196	4267	6463	140216703	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.886G>A	5.37:g.140236519G>A	ENSP00000304234:p.Glu296Lys		140216703	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	2.780	-0.253696	0.05829	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51574	0.7;0.7	4.29	2.44	0.29823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.29126	0.0724	L	0.31120	0.905	0.09310	N	1	B;B;B	0.26708	0.026;0.157;0.031	B;B;B	0.19666	0.026;0.015;0.016	T	0.21965	-1.0230	9	0.49607	T	0.09	.	1.226	0.01933	0.1761:0.1952:0.4276:0.2012	.	296;296;296	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	K	296	ENSP00000421030:E296K;ENSP00000304234:E296K	ENSP00000304234:E296K	E	+	1	0	PCDHA10	140216703	0.000000	0.05858	0.138000	0.22173	0.192000	0.23643	-2.774000	0.00777	1.114000	0.41781	0.561000	0.74099	GAA		0.373	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA11	56138	broad.mit.edu	37	5	140249490	140249490	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140249490G>T	ENST00000398640.2	+	1	802	c.802G>T	c.(802-804)Gac>Tac	p.D268Y	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D268Y(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGCCACAGACCGAGACGA	0.383																																					p.D268Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802T	5						.						34.0	34.0	34.0					5																	140249490		1929	4147	6076	140229674	SO:0001583	missense	56138	exon1			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.802G>T	5.37:g.140249490G>T	ENSP00000381636:p.Asp268Tyr		140229674	NM_031861	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335538	0.41398	.	.	ENSG00000249158	ENST00000398640	T	0.75260	-0.92	5.71	5.71	0.89125	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.94006	0.8080	H	0.99954	5.04	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96838	0.9616	9	0.87932	D	0	.	19.8557	0.96758	0.0:0.0:1.0:0.0	.	268;268	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Y	268	ENSP00000381636:D268Y	ENSP00000381636:D268Y	D	+	1	0	PCDHA11	140229674	1.000000	0.71417	0.957000	0.39632	0.036000	0.12997	9.593000	0.98250	2.707000	0.92482	0.655000	0.94253	GAC		0.383	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHA12	56137	broad.mit.edu	37	5	140255297	140255297	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140255297G>T	ENST00000398631.2	+	1	240	c.240G>T	c.(238-240)caG>caT	p.Q80H	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q80H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATCTGCAGAATGGCATTT	0.622																																					p.Q80H	Pancreas(113;759 1672 13322 24104 50104)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	5						.						84.0	99.0	94.0					5																	140255297		2203	4295	6498	140235481	SO:0001583	missense	56137	exon1			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.240G>T	5.37:g.140255297G>T	ENSP00000381628:p.Gln80His		140235481	NM_031864	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554640	0.65425	.	.	ENSG00000251664	ENST00000398631	T	0.28454	1.61	5.18	5.18	0.71444	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52597	0.1744	M	0.82433	2.59	0.24444	N	0.994513	P;D	0.69078	0.704;0.997	B;P	0.57679	0.121;0.825	T	0.52223	-0.8604	9	0.87932	D	0	.	11.7681	0.51943	0.0818:0.0:0.9182:0.0	.	80;80	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	80	ENSP00000381628:Q80H	ENSP00000381628:Q80H	Q	+	3	2	PCDHA12	140235481	0.357000	0.24938	1.000000	0.80357	0.996000	0.88848	0.344000	0.19962	2.421000	0.82119	0.591000	0.81541	CAG		0.622	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHA12	56137	broad.mit.edu	37	5	140255897	140255897	+	Silent	SNP	G	G	A	rs557901977		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140255897G>A	ENST00000398631.2	+	1	840	c.840G>A	c.(838-840)ggG>ggA	p.G280G	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G280G(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCCTATGGGATCAAAATGA	0.353																																					p.G280G	Pancreas(113;759 1672 13322 24104 50104)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840A	5						.						107.0	112.0	110.0					5																	140255897		1849	4103	5952	140236081	SO:0001819	synonymous_variant	56137	exon1			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.840G>A	5.37:g.140255897G>A			140236081	NM_031864	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.353	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHA13	56136	broad.mit.edu	37	5	140262644	140262644	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140262644T>G	ENST00000289272.2	+	1	791	c.791T>G	c.(790-792)cTa>cGa	p.L264R	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.L264R|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L264R(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATCAAGCTAAATGCCACA	0.418																																					p.L264R	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T791G	5						.						101.0	97.0	98.0					5																	140262644		2203	4300	6503	140242828	SO:0001583	missense	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.791T>G	5.37:g.140262644T>G	ENSP00000289272:p.Leu264Arg		140242828	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761956	0.69763	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.57107	0.42;0.42	5.58	5.58	0.84498	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.80243	0.4587	H	0.94183	3.505	0.31573	N	0.656089	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.79108	0.992;0.979;0.983	D	0.86084	0.1546	9	0.87932	D	0	.	15.4067	0.74884	0.0:0.0:0.0:1.0	.	264;264;264	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	R	264	ENSP00000386821:L264R;ENSP00000289272:L264R	ENSP00000289272:L264R	L	+	2	0	PCDHA13	140242828	0.981000	0.34729	0.877000	0.34402	0.916000	0.54674	7.930000	0.87610	2.118000	0.64928	0.459000	0.35465	CTA		0.418	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHA13	56136	broad.mit.edu	37	5	140262739	140262739	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140262739A>C	ENST00000289272.2	+	1	886	c.886A>C	c.(886-888)Aat>Cat	p.N296H	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.N296H|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N296H(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTACCATAAATCCGAACAA	0.373																																					p.N296H	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A886C	5						.						63.0	68.0	66.0					5																	140262739		2203	4300	6503	140242923	SO:0001583	missense	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.886A>C	5.37:g.140262739A>C	ENSP00000289272:p.Asn296His		140242923	NM_031865	O75277	Missense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	A	9.397	1.077112	0.20227	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.62788	-0.0;-0.0	5.58	-5.68	0.02436	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52008	0.1708	L	0.46947	1.48	0.09310	N	1	B;B;B	0.16396	0.003;0.017;0.013	B;B;B	0.28709	0.042;0.093;0.035	T	0.54241	-0.8323	9	0.56958	D	0.05	.	9.6622	0.39962	0.2826:0.2098:0.5075:0.0	.	296;296;296	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	296	ENSP00000386821:N296H;ENSP00000289272:N296H	ENSP00000289272:N296H	N	+	1	0	PCDHA13	140242923	0.000000	0.05858	0.005000	0.12908	0.712000	0.41017	-0.127000	0.10547	-0.808000	0.04387	0.459000	0.35465	AAT		0.373	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHA13	56136	broad.mit.edu	37	5	140264248	140264248	+	Splice_Site	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140264248G>A	ENST00000289272.2	+	1	2394		c.e1+1		PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Splice_Site|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGAAAGAGGTAAGCTTATA	0.423																																					p.V799I	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Unknown(1)	large_intestine(1)	c.G2395A	5						.						28.0	34.0	32.0					5																	140264248		2203	4300	6503	140244432	SO:0001630	splice_region_variant	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2394+1G>A	5.37:g.140264248G>A			140244432	NM_031865	O75277	Splice_Site	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843974	0.32606	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6253	0.84968	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCDHA13	140244432	1.000000	0.71417	0.202000	0.23494	0.016000	0.09150	4.266000	0.58871	2.219000	0.72066	0.655000	0.94253	.		0.423	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	Intron
PCDHAC1	56135	broad.mit.edu	37	5	140307515	140307515	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140307515G>A	ENST00000253807.2	+	1	1038	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Silent_p.S346S|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	346					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S346S(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517																																					p.S346S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1038A	5						.						140.0	131.0	134.0					5																	140307515		2203	4300	6503	140287699	SO:0001819	synonymous_variant	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1038G>A	5.37:g.140307515G>A			140287699	NM_031882	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	CCDS4241.1																																																																																				0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHAC1	56135	broad.mit.edu	37	5	140308359	140308359	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140308359G>A	ENST00000253807.2	+	1	1882	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D628N|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D628N(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCCACTGATGCAGTTAA	0.532																																					p.D628N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1882A	5						.						91.0	87.0	88.0					5																	140308359		2203	4300	6503	140288543	SO:0001583	missense	56135	exon1			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1882G>A	5.37:g.140308359G>A	ENSP00000253807:p.Asp628Asn		140288543	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425269	0.62733	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51071	0.72;0.72	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73040	0.3536	M	0.79926	2.475	0.36727	D	0.881505	D;D	0.89917	0.998;1.0	D;D	0.85130	0.958;0.997	T	0.77832	-0.2441	9	0.72032	D	0.01	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	628;628	Q9H158;Q9H158-2	PCDC1_HUMAN;.	N	628	ENSP00000386356:D628N;ENSP00000253807:D628N	ENSP00000253807:D628N	D	+	1	0	PCDHAC1	140288543	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.240000	0.95396	2.817000	0.96982	0.563000	0.77884	GAT		0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
PCDHAC2	56134	broad.mit.edu	37	5	140347077	140347077	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140347077G>T	ENST00000289269.5	+	1	1258	c.726G>T	c.(724-726)caG>caT	p.Q242H	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q242H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGGCACAGATCTCTGTGC	0.622																																					p.Q242H	Melanoma(190;638 2083 3390 11909 52360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G726T	5						.						62.0	62.0	62.0					5																	140347077		2203	4300	6503	140327261	SO:0001583	missense	56134	exon1			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.726G>T	5.37:g.140347077G>T	ENSP00000289269:p.Gln242His		140327261	NM_018899	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044993	0.36085	.	.	ENSG00000243232	ENST00000289269	T	0.54279	0.58	5.72	3.93	0.45458	Cadherin (4);Cadherin-like (1);	0.000000	0.39834	N	0.001252	T	0.62575	0.2439	L	0.60957	1.885	0.45284	D	0.998288	P;D	0.71674	0.48;0.998	B;D	0.68943	0.333;0.961	T	0.57717	-0.7763	10	0.23891	T	0.37	.	9.3449	0.38102	0.2166:0.0:0.7834:0.0	.	242;242	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	H	242	ENSP00000289269:Q242H	ENSP00000289269:Q242H	Q	+	3	2	PCDHAC2	140327261	0.947000	0.32204	0.993000	0.49108	0.985000	0.73830	0.956000	0.29202	0.772000	0.33382	0.561000	0.74099	CAG		0.622	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB1	29930	broad.mit.edu	37	5	140431319	140431319	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140431319G>T	ENST00000306549.3	+	1	341	c.264G>T	c.(262-264)gaG>gaT	p.E88D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E88D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGAAGGAGAAACTGGATC	0.587																																					p.E88D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G264T	5						.						71.0	76.0	74.0					5																	140431319		2203	4300	6503	140411503	SO:0001583	missense	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.264G>T	5.37:g.140431319G>T	ENSP00000307234:p.Glu88Asp		140411503	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159500	0.21454	.	.	ENSG00000171815	ENST00000306549	T	0.32988	1.43	5.81	4.95	0.65309	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48286	D	0.000197	T	0.26882	0.0658	L	0.56199	1.76	0.31584	N	0.654755	B	0.22909	0.077	B	0.23150	0.044	T	0.27806	-1.0063	10	0.44086	T	0.13	.	6.4025	0.21646	0.1398:0.0:0.6113:0.2489	.	88	Q9Y5F3	PCDB1_HUMAN	D	88	ENSP00000307234:E88D	ENSP00000307234:E88D	E	+	3	2	PCDHB1	140411503	0.175000	0.23083	1.000000	0.80357	0.995000	0.86356	-0.259000	0.08721	1.476000	0.48215	0.655000	0.94253	GAG		0.587	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB1	29930	broad.mit.edu	37	5	140432112	140432112	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140432112T>C	ENST00000306549.3	+	1	1134	c.1057T>C	c.(1057-1059)Tcc>Ccc	p.S353P		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S353P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTCTGTGTCCAGCCCACT	0.532																																					p.S353P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1057C	5						.						127.0	116.0	120.0					5																	140432112		2203	4300	6503	140412296	SO:0001583	missense	29930	exon1			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1057T>C	5.37:g.140432112T>C	ENSP00000307234:p.Ser353Pro		140412296	NM_013340	Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.614979	0.46631	.	.	ENSG00000171815	ENST00000306549	T	0.02682	4.2	6.17	3.67	0.42095	Cadherin (2);Cadherin-like (1);	0.153560	0.30676	N	0.009107	T	0.04452	0.0122	L	0.53561	1.675	0.09310	N	1	P	0.38617	0.64	B	0.38296	0.27	T	0.22312	-1.0220	10	0.72032	D	0.01	.	11.291	0.49250	0.3676:0.0:0.0:0.6324	.	353	Q9Y5F3	PCDB1_HUMAN	P	353	ENSP00000307234:S353P	ENSP00000307234:S353P	S	+	1	0	PCDHB1	140412296	0.001000	0.12720	0.998000	0.56505	0.995000	0.86356	1.195000	0.32186	1.120000	0.41904	0.533000	0.62120	TCC		0.532	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340	
PCDHB2	56133	broad.mit.edu	37	5	140474532	140474532	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140474532A>G	ENST00000194155.4	+	1	306	c.158A>G	c.(157-159)gAc>gGc	p.D53G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D53G(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)			TTGTTAAAAGACCTGGGGCTG	0.512																																					p.D53G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A158G	5						.						57.0	64.0	62.0					5																	140474532		2203	4300	6503	140454716	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.158A>G	5.37:g.140474532A>G	ENSP00000194155:p.Asp53Gly		140454716	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470511	0.63625	.	.	ENSG00000112852	ENST00000194155	T	0.61627	0.09	5.37	4.13	0.48395	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.79822	0.4512	M	0.92219	3.285	0.44677	D	0.997668	D	0.67145	0.996	D	0.81914	0.995	D	0.84525	0.0630	9	0.72032	D	0.01	.	12.6261	0.56630	0.8627:0.1373:0.0:0.0	.	53	Q9Y5E7	PCDB2_HUMAN	G	53	ENSP00000194155:D53G	ENSP00000194155:D53G	D	+	2	0	PCDHB2	140454716	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	7.350000	0.79385	2.164000	0.68074	0.533000	0.62120	GAC		0.512	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB2	56133	broad.mit.edu	37	5	140476071	140476071	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140476071C>T	ENST00000194155.4	+	1	1845	c.1697C>T	c.(1696-1698)cCg>cTg	p.P566L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	566					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.P566L(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)			GTGCTGTACCCGCTGCAGAAC	0.741																																					p.P566L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1697T	5						.						10.0	12.0	11.0					5																	140476071		2141	4136	6277	140456255	SO:0001583	missense	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1697C>T	5.37:g.140476071C>T	ENSP00000194155:p.Pro566Leu		140456255	NM_018936	Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958622	0.74016	.	.	ENSG00000112852	ENST00000194155	T	0.60920	0.15	4.5	4.5	0.54988	Cadherin-like (1);	.	.	.	.	D	0.83069	0.5174	H	0.95950	3.745	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.89429	0.3715	9	0.87932	D	0	.	17.2624	0.87073	0.0:1.0:0.0:0.0	.	566	Q9Y5E7	PCDB2_HUMAN	L	566	ENSP00000194155:P566L	ENSP00000194155:P566L	P	+	2	0	PCDHB2	140456255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.590000	0.61013	2.223000	0.72356	0.556000	0.70494	CCG		0.741	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB3	56132	broad.mit.edu	37	5	140480531	140480531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140480531G>T	ENST00000231130.2	+	1	298	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E100*(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCACAGAACCATGCAT	0.438																																					p.E100X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G298T	5						.						86.0	91.0	89.0					5																	140480531		2203	4300	6503	140460715	SO:0001587	stop_gained	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.298G>T	5.37:g.140480531G>T	ENSP00000231130:p.Glu100*		140460715	NM_018937	B2R8P2	Nonsense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140771	0.56936	.	.	ENSG00000113205	ENST00000231130	.	.	.	4.7	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.3757	0.66874	0.0:0.0:0.8522:0.1478	.	.	.	.	X	100	.	ENSP00000231130:E100X	E	+	1	0	PCDHB3	140460715	0.000000	0.05858	0.251000	0.24312	0.994000	0.84299	0.107000	0.15375	2.305000	0.77605	0.655000	0.94253	GAA		0.438	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB3	56132	broad.mit.edu	37	5	140481092	140481092	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140481092G>T	ENST00000231130.2	+	1	859	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E287*(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTCTGAAGAAATTCGCAA	0.363																																					p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	5						.						47.0	52.0	51.0					5																	140481092		2203	4300	6503	140461276	SO:0001587	stop_gained	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.859G>T	5.37:g.140481092G>T	ENSP00000231130:p.Glu287*		140461276	NM_018937	B2R8P2	Nonsense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877958	0.72294	.	.	ENSG00000113205	ENST00000231130	.	.	.	4.93	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	5.9812	0.19409	0.1683:0.1712:0.6605:0.0	.	.	.	.	X	287	.	ENSP00000231130:E287X	E	+	1	0	PCDHB3	140461276	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.366000	0.20365	2.438000	0.82558	0.655000	0.94253	GAA		0.363	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB3	56132	broad.mit.edu	37	5	140482357	140482357	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140482357C>T	ENST00000231130.2	+	1	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	708					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.F708F(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.687																																					p.F708F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	5						.						63.0	66.0	65.0					5																	140482357		2137	4186	6323	140462541	SO:0001819	synonymous_variant	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2124C>T	5.37:g.140482357C>T			140462541	NM_018937	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.687	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB5	26167	broad.mit.edu	37	5	140516950	140516950	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140516950A>G	ENST00000231134.5	+	1	2151	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D645G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTCAAGGACAATGGCGAG	0.721																																					p.D645G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1934G	5						.						22.0	26.0	25.0					5																	140516950		2102	4097	6199	140497134	SO:0001583	missense	26167	exon1			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1934A>G	5.37:g.140516950A>G	ENSP00000231134:p.Asp645Gly		140497134	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198666	0.58126	.	.	ENSG00000113209	ENST00000231134	T	0.68765	-0.35	4.71	4.71	0.59529	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89698	0.6790	H	0.99675	4.695	0.43740	D	0.996239	D	0.89917	1.0	D	0.74674	0.984	D	0.94094	0.7356	9	0.87932	D	0	.	14.5112	0.67789	1.0:0.0:0.0:0.0	.	645	Q9Y5E4	PCDB5_HUMAN	G	645	ENSP00000231134:D645G	ENSP00000231134:D645G	D	+	2	0	PCDHB5	140497134	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.288000	0.78691	1.892000	0.54788	0.352000	0.21897	GAC		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB5	26167	broad.mit.edu	37	5	140517137	140517137	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140517137C>T	ENST00000231134.5	+	1	2338	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	707					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F707F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCAGTGC	0.692																																					p.F707F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2121T	5						.						87.0	94.0	92.0					5																	140517137		2201	4296	6497	140497321	SO:0001819	synonymous_variant	26167	exon1			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2121C>T	5.37:g.140517137C>T			140497321	NM_015669	Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB6	56130	broad.mit.edu	37	5	140531462	140531462	+	Missense_Mutation	SNP	G	G	A	rs374444657		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140531462G>A	ENST00000231136.1	+	1	1624	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E406K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	542	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.E542K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGAGCAGCGAGGCGCTGGT	0.687																																					p.E542K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1624A	5						.						49.0	56.0	54.0					5																	140531462		2201	4299	6500	140511646	SO:0001583	missense	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1624G>A	5.37:g.140531462G>A	ENSP00000231136:p.Glu542Lys		140511646	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509298	0.44660	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01705	4.68;4.68	4.19	0.953	0.19590	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01489	0.0048	N	0.05124	-0.11	0.24382	N	0.994788	P	0.43909	0.821	B	0.44044	0.439	T	0.54146	-0.8337	9	0.87932	D	0	.	9.8575	0.41094	0.1653:0.518:0.3167:0.0	.	542	Q9Y5E3	PCDB6_HUMAN	K	406;542;327	ENSP00000438466:E406K;ENSP00000231136:E542K	ENSP00000231136:E542K	E	+	1	0	PCDHB6	140511646	0.000000	0.05858	0.998000	0.56505	0.947000	0.59692	0.140000	0.16056	0.342000	0.23796	0.556000	0.70494	GAG		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB6	56130	broad.mit.edu	37	5	140531942	140531942	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140531942T>G	ENST00000231136.1	+	1	2104	c.2104T>G	c.(2104-2106)Tcg>Gcg	p.S702A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S566A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	702					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.S702A(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTTTCGGTGCTCCT	0.687																																					p.S702A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2104G	5						.						83.0	93.0	89.0					5																	140531942		2201	4287	6488	140512126	SO:0001583	missense	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2104T>G	5.37:g.140531942T>G	ENSP00000231136:p.Ser702Ala		140512126	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486295	0.26686	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.16457	2.34;2.34	4.55	3.34	0.38264	.	.	.	.	.	T	0.28962	0.0719	L	0.38175	1.15	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.06110	-1.0845	9	0.72032	D	0.01	.	8.5918	0.33693	0.3079:0.0:0.0:0.6921	.	702	Q9Y5E3	PCDB6_HUMAN	A	566;702	ENSP00000438466:S566A;ENSP00000231136:S702A	ENSP00000231136:S702A	S	+	1	0	PCDHB6	140512126	0.003000	0.15002	0.002000	0.10522	0.731000	0.41821	1.034000	0.30204	0.671000	0.31185	0.454000	0.30748	TCG		0.687	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB7	56129	broad.mit.edu	37	5	140552816	140552816	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140552816C>A	ENST00000231137.3	+	1	574	c.400C>A	c.(400-402)Cta>Ata	p.L134I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	134					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L134I(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)			TCCAGTATTTCTAGACAGAGA	0.448																																					p.L134I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C400A	5						.						59.0	64.0	62.0					5																	140552816		2203	4300	6503	140533000	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.400C>A	5.37:g.140552816C>A	ENSP00000231137:p.Leu134Ile		140533000	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	0.205	-1.041352	0.02013	.	.	ENSG00000113212	ENST00000231137	T	0.20598	2.06	4.61	3.72	0.42706	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28300	0.0699	M	0.75777	2.31	0.09310	N	1	P	0.45672	0.864	P	0.46543	0.52	T	0.08973	-1.0696	9	0.22109	T	0.4	.	8.5221	0.33282	0.0:0.7582:0.0:0.2418	.	134	Q9Y5E2	PCDB7_HUMAN	I	134	ENSP00000231137:L134I	ENSP00000231137:L134I	L	+	1	2	PCDHB7	140533000	0.000000	0.05858	0.962000	0.40283	0.100000	0.18952	-1.183000	0.03079	2.248000	0.74166	0.655000	0.94253	CTA		0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB7	56129	broad.mit.edu	37	5	140552891	140552891	+	Missense_Mutation	SNP	G	G	A	rs201008826		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140552891G>A	ENST00000231137.3	+	1	649	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	159	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.D159N(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)			GAGTGCACAGGATTCAGATGT	0.448																																					p.D159N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	5						.						56.0	58.0	57.0					5																	140552891		2203	4300	6503	140533075	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.475G>A	5.37:g.140552891G>A	ENSP00000231137:p.Asp159Asn		140533075	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578865	0.86645	.	.	ENSG00000113212	ENST00000231137	T	0.41400	1.0	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82093	0.4962	H	0.99900	4.915	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.91527	0.5239	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	159	Q9Y5E2	PCDB7_HUMAN	N	159	ENSP00000231137:D159N	ENSP00000231137:D159N	D	+	1	0	PCDHB7	140533075	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.809000	0.99208	2.248000	0.74166	0.655000	0.94253	GAT		0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140553173G>A	ENST00000231137.3	+	1	931	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E253K(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)			GCAGGTGCCCGAAAATAGCCC	0.517																																					p.E253K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757A	5						.						65.0	70.0	69.0					5																	140553173		2203	4300	6503	140533357	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.757G>A	5.37:g.140553173G>A	ENSP00000231137:p.Glu253Lys		140533357	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294126	0.60086	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.76316	-1.01	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92691	0.7677	H	0.98111	4.15	0.49798	D	0.999827	D	0.89917	1.0	D	0.97110	1.0	D	0.95632	0.8690	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	253	Q9Y5E2	PCDB7_HUMAN	K	253;36	ENSP00000231137:E253K	ENSP00000231137:E253K	E	+	1	0	PCDHB7	140533357	1.000000	0.71417	0.034000	0.17996	0.077000	0.17291	9.783000	0.99037	2.248000	0.74166	0.655000	0.94253	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB16	57717	broad.mit.edu	37	5	140564258	140564258	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140564258C>T	ENST00000361016.2	+	1	3279	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	708					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F708F(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.687																																					p.F708F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	5						.						73.0	82.0	79.0					5																	140564258		2199	4290	6489	140544442	SO:0001819	synonymous_variant	57717	exon1			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2124C>T	5.37:g.140564258C>T			140544442	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHB10	56126	broad.mit.edu	37	5	140573400	140573400	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140573400C>A	ENST00000239446.4	+	1	1459	c.1275C>A	c.(1273-1275)gaC>gaA	p.D425E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D425E(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTCACTGACTTGGGGACAC	0.512																																					p.D425E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1275A	5						.						104.0	101.0	102.0					5																	140573400		2203	4300	6503	140553584	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1275C>A	5.37:g.140573400C>A	ENSP00000239446:p.Asp425Glu		140553584	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726488	0.30593	.	.	ENSG00000120324	ENST00000239446	T	0.67865	-0.29	3.22	1.38	0.22167	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87977	0.6314	H	0.99379	4.54	0.23095	N	0.998309	D	0.89917	1.0	D	0.97110	1.0	T	0.75830	-0.3179	9	0.87932	D	0	.	8.2953	0.31982	0.0:0.71:0.0:0.29	.	425	Q9UN67	PCDBA_HUMAN	E	425	ENSP00000239446:D425E	ENSP00000239446:D425E	D	+	3	2	PCDHB10	140553584	0.000000	0.05858	0.033000	0.17914	0.472000	0.32918	-1.723000	0.01866	0.698000	0.31739	0.549000	0.68633	GAC		0.512	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB10	56126	broad.mit.edu	37	5	140573743	140573743	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140573743G>A	ENST00000239446.4	+	1	1802	c.1618G>A	c.(1618-1620)Gcg>Acg	p.A540T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A540T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCCCCGCGCTGAGCAG	0.697																																					p.A540T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1618A	5						.						43.0	60.0	54.0					5																	140573743		2198	4297	6495	140553927	SO:0001583	missense	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1618G>A	5.37:g.140573743G>A	ENSP00000239446:p.Ala540Thr		140553927	NM_018930	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	16.42	3.117862	0.56505	.	.	ENSG00000120324	ENST00000239446	T	0.03181	4.02	3.53	-1.23	0.09465	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10809	0.0264	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.16541	-1.0399	9	0.62326	D	0.03	.	4.8786	0.13668	0.0854:0.389:0.3897:0.1359	.	540	Q9UN67	PCDBA_HUMAN	T	540	ENSP00000239446:A540T	ENSP00000239446:A540T	A	+	1	0	PCDHB10	140553927	0.000000	0.05858	0.352000	0.25734	0.941000	0.58515	-0.605000	0.05661	-0.033000	0.13736	0.549000	0.68633	GCG		0.697	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB11	56125	broad.mit.edu	37	5	140579801	140579801	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140579801T>C	ENST00000354757.3	+	1	454	c.454T>C	c.(454-456)Ttc>Ctc	p.F152L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F152L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGTGTTCTTACTAGA	0.398																																					p.F152L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T454C	5						.						103.0	114.0	111.0					5																	140579801		2203	4300	6503	140559985	SO:0001583	missense	56125	exon1			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.454T>C	5.37:g.140579801T>C	ENSP00000346802:p.Phe152Leu		140559985	NM_018931	B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540165	0.65085	.	.	ENSG00000197479	ENST00000354757	T	0.47177	0.85	2.8	1.57	0.23409	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60792	0.2296	M	0.71871	2.18	0.20403	N	0.999905	P	0.36874	0.572	P	0.55577	0.779	T	0.54302	-0.8314	9	0.52906	T	0.07	.	6.7601	0.23536	0.3774:0.0:0.0:0.6226	.	152	Q9Y5F2	PCDBB_HUMAN	L	152	ENSP00000346802:F152L	ENSP00000346802:F152L	F	+	1	0	PCDHB11	140559985	0.993000	0.37304	0.002000	0.10522	0.909000	0.53808	4.574000	0.60900	0.275000	0.22094	0.383000	0.25322	TTC		0.398	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PCDHB12	56124	broad.mit.edu	37	5	140589503	140589503	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140589503G>A	ENST00000239450.2	+	1	1213	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D5N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D342N(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTAAACGACAACGCTCC	0.418																																					p.D342N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	5						.						85.0	84.0	84.0					5																	140589503		2202	4300	6502	140569687	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1024G>A	5.37:g.140589503G>A	ENSP00000239450:p.Asp342Asn		140569687	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205659	0.79127	.	.	ENSG00000120328	ENST00000541609;ENST00000239450	T;T	0.64085	-0.08;-0.08	4.06	4.06	0.47325	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.84311	0.5444	H	0.96833	3.89	0.35846	D	0.826402	D	0.89917	1.0	D	0.81914	0.995	D	0.90831	0.4716	9	0.87932	D	0	.	11.3121	0.49370	0.0945:0.0:0.9055:0.0	.	342	Q9Y5F1	PCDBC_HUMAN	N	5;342	ENSP00000440199:D5N;ENSP00000239450:D342N	ENSP00000239450:D342N	D	+	1	0	PCDHB12	140569687	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	4.182000	0.58310	1.969000	0.57287	0.491000	0.48974	GAC		0.418	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB12	56124	broad.mit.edu	37	5	140589653	140589653	+	Missense_Mutation	SNP	G	G	A	rs201620775		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140589653G>A	ENST00000239450.2	+	1	1363	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V55M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V392M(3)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCCATTCGTGCTAAAATC	0.473																																					p.V392M												.	.	3	Substitution - Missense(3)	large_intestine(1)|stomach(1)|pancreas(1)	c.G1174A	5						.						65.0	65.0	65.0					5																	140589653		2203	4300	6503	140569837	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1174G>A	5.37:g.140589653G>A	ENSP00000239450:p.Val392Met		140569837	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	1.461	-0.562455	0.03939	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.51817	0.69;0.69	3.87	-3.13	0.05266	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40473	0.1118	M	0.62088	1.915	0.09310	N	1	B	0.29805	0.257	B	0.33254	0.16	T	0.42275	-0.9461	9	0.51188	T	0.08	.	5.076	0.14632	0.4002:0.2645:0.3354:0.0	.	392	Q9Y5F1	PCDBC_HUMAN	M	55;392;12	ENSP00000440199:V55M;ENSP00000239450:V392M	ENSP00000239450:V392M	V	+	1	0	PCDHB12	140569837	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.666000	0.01963	-0.715000	0.04968	-0.479000	0.04858	GTG		0.473	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140594625C>T	ENST00000341948.4	+	1	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F310F(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378																																					p.F310F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C930T	5						.																																			140574809	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.930C>T	5.37:g.140594625C>T			140574809	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.378	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB13	56123	broad.mit.edu	37	5	140595806	140595806	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140595806C>T	ENST00000341948.4	+	1	2298	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	704					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S704L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.687																																					p.S704L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2111T	5						.						91.0	98.0	96.0					5																	140595806		2201	4289	6490	140575990	SO:0001583	missense	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2111C>T	5.37:g.140595806C>T	ENSP00000345491:p.Ser704Leu		140575990	NM_018933	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.94	2.684665	0.47991	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.20463	2.07	3.5	-1.21	0.09524	.	.	.	.	.	T	0.47358	0.1441	H	0.96970	3.915	0.09310	N	1	D	0.62365	0.991	P	0.53035	0.716	T	0.45381	-0.9265	9	0.56958	D	0.05	.	9.6602	0.39950	0.0:0.3473:0.5625:0.0902	.	704	Q9Y5F0	PCDBD_HUMAN	L	704;704;650	ENSP00000345491:S704L	ENSP00000345491:S704L	S	+	2	0	PCDHB13	140575990	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.009000	0.03660	-0.623000	0.05618	-0.736000	0.03550	TCG		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB15	56121	broad.mit.edu	37	5	140626044	140626044	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140626044G>T	ENST00000231173.3	+	1	898	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E300*(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCAGGAGAAATTCGACT	0.398																																					p.E300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G898T	5						.						68.0	72.0	70.0					5																	140626044		2203	4300	6503	140606228	SO:0001587	stop_gained	56121	exon1			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.898G>T	5.37:g.140626044G>T	ENSP00000231173:p.Glu300*		140606228	NM_018935	Q8IUX5	Nonsense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699120	0.68501	.	.	ENSG00000113248	ENST00000231173	.	.	.	4.8	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.2825	0.31908	0.251:0.0:0.749:0.0	.	.	.	.	X	300	.	ENSP00000231173:E300X	E	+	1	0	PCDHB15	140606228	0.989000	0.36119	1.000000	0.80357	0.805000	0.45488	2.269000	0.43346	1.139000	0.42245	0.491000	0.48974	GAA		0.398	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
TAF7	6879	broad.mit.edu	37	5	140698862	140698862	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140698862C>A	ENST00000313368.5	-	1	1468	c.750G>T	c.(748-750)gaG>gaT	p.E250D		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	250					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)	p.E250D(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGATCTTCCTCCGTGTCAA	0.443																																					p.E250D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	5						.						259.0	244.0	249.0					5																	140698862		2203	4300	6503	140679046	SO:0001583	missense	6879	exon1			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.750G>T	5.37:g.140698862C>A	ENSP00000312709:p.Glu250Asp		140679046	NM_005642	B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974383	0.53720	.	.	ENSG00000178913	ENST00000313368	T	0.26518	1.73	4.54	-0.326	0.12698	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.59436	1.845	0.49299	D	0.999778	D	0.69078	0.997	D	0.72625	0.978	T	0.05886	-1.0858	10	0.44086	T	0.13	-23.5272	8.7454	0.34583	0.0:0.5838:0.0:0.4162	.	250	Q15545	TAF7_HUMAN	D	250	ENSP00000312709:E250D	ENSP00000312709:E250D	E	-	3	2	TAF7	140679046	0.998000	0.40836	0.993000	0.49108	0.986000	0.74619	0.588000	0.23924	-0.188000	0.10499	-0.136000	0.14681	GAG		0.443	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642	
PCDHGA1	56114	broad.mit.edu	37	5	140710707	140710707	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140710707C>A	ENST00000517417.1	+	1	456	c.456C>A	c.(454-456)gtC>gtA	p.V152V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.V152V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> I (in dbSNP:rs2472647). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V152V(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCAGAGTCTCATTGCCTT	0.428																																					p.V152V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456A	5						.						108.0	115.0	113.0					5																	140710707		2203	4300	6503	140690891	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.456C>A	5.37:g.140710707C>A			140690891	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.428	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA1	56114	broad.mit.edu	37	5	140711330	140711330	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140711330T>G	ENST00000517417.1	+	1	1079	c.1079T>G	c.(1078-1080)tTt>tGt	p.F360C	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F360C	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F360C(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAAACTTTCCTCCTGGG	0.428																																					p.F360C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1079G	5						.						52.0	50.0	51.0					5																	140711330		2203	4300	6503	140691514	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1079T>G	5.37:g.140711330T>G	ENSP00000431083:p.Phe360Cys		140691514	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.259203	0.23051	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01745	4.66;4.66	3.99	0.421	0.16451	Cadherin (3);Cadherin-like (1);	0.549198	0.14905	U	0.291581	T	0.01287	0.0042	N	0.19112	0.55	0.22342	N	0.999181	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.46062	-0.9218	10	0.45353	T	0.12	.	4.7734	0.13167	0.0:0.4592:0.2:0.3407	.	360;360	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	C	360	ENSP00000431083:F360C;ENSP00000367345:F360C	ENSP00000367345:F360C	F	+	2	0	PCDHGA1	140691514	0.000000	0.05858	0.999000	0.59377	0.986000	0.74619	0.439000	0.21575	0.241000	0.21283	0.528000	0.53228	TTT		0.428	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA1	56114	broad.mit.edu	37	5	140712638	140712638	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140712638C>A	ENST00000517417.1	+	1	2387	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S796Y	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	796					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S796Y(1)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCCAGTCTTTACTTGAA	0.423																																					p.S796Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2387A	5						.						71.0	78.0	76.0					5																	140712638		2203	4300	6503	140692822	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2387C>A	5.37:g.140712638C>A	ENSP00000431083:p.Ser796Tyr		140692822	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.933493	0.34096	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	D;T	0.95622	-3.76;0.68	4.14	-1.34	0.09143	.	1.079070	0.07300	N	0.873951	D	0.91216	0.7232	L	0.39020	1.185	0.09310	N	1	B;B	0.33044	0.378;0.395	B;B	0.38500	0.275;0.197	T	0.82971	-0.0192	10	0.87932	D	0	.	1.3972	0.02263	0.2642:0.331:0.2479:0.1568	.	796;796	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Y	796	ENSP00000431083:S796Y;ENSP00000367345:S796Y	ENSP00000367345:S796Y	S	+	2	0	PCDHGA1	140692822	0.013000	0.17824	0.005000	0.12908	0.971000	0.66376	1.369000	0.34227	-0.434000	0.07275	0.585000	0.79938	TCT		0.423	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu	37	5	140720178	140720178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140720178C>A	ENST00000394576.2	+	1	1640	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	547	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.S547*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAATGTATCATTAAGCCTG	0.587																																					p.S547X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1640A	5						.						168.0	166.0	167.0					5																	140720178		2203	4300	6503	140700362	SO:0001587	stop_gained	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1640C>A	5.37:g.140720178C>A	ENSP00000378077:p.Ser547*		140700362	NM_032009	Q52LL6|Q9Y5D5	Nonsense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.83	2.354826	0.41700	.	.	ENSG00000081853	ENST00000394576	.	.	.	4.88	4.0	0.46444	.	0.000000	0.36519	U	0.002555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2257	0.73348	0.0:0.8584:0.1416:0.0	.	.	.	.	X	547	.	ENSP00000378077:S547X	S	+	2	0	PCDHGA2	140700362	0.009000	0.17119	0.020000	0.16555	0.026000	0.11368	1.726000	0.38085	1.185000	0.42971	0.485000	0.47835	TCA		0.587	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGA3	56112	broad.mit.edu	37	5	140723973	140723973	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140723973G>T	ENST00000253812.6	+	1	373	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	125	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D125Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATTAAAGATATTAATGA	0.363																																					p.D125Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373T	5						.						22.0	22.0	22.0					5																	140723973		1837	4109	5946	140704157	SO:0001583	missense	56112	exon1			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.373G>T	5.37:g.140723973G>T	ENSP00000253812:p.Asp125Tyr		140704157	NM_018916	Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.950210	0.73787	.	.	ENSG00000254245	ENST00000253812	T	0.80033	-1.33	5.65	5.65	0.86999	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34110	U	0.004243	D	0.95661	0.8589	H	0.99940	5	0.48830	D	0.99971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97717	1.0194	10	0.87932	D	0	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	125;125	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Y	125	ENSP00000253812:D125Y	ENSP00000253812:D125Y	D	+	1	0	PCDHGA3	140704157	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.663000	0.98605	2.824000	0.97209	0.655000	0.94253	GAT		0.363	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGA3	56112	broad.mit.edu	37	5	140725322	140725322	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140725322C>T	ENST00000253812.6	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G574G(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACTGGCGTGGAGCTGG	0.667																																					p.G574G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1722T	5						.						102.0	111.0	108.0					5																	140725322		2203	4300	6503	140705506	SO:0001819	synonymous_variant	56112	exon1			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1722C>T	5.37:g.140725322C>T			140705506	NM_018916	Q9Y5D4	Silent	SNP	ENST00000253812.6	37	CCDS47290.1																																																																																				0.667	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGB1	56104	broad.mit.edu	37	5	140730929	140730929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140730929C>T	ENST00000523390.1	+	1	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R368*(4)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAAAGTGCGAGACAAGGA	0.433																																					p.R368X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C1102T	5						.						43.0	42.0	42.0					5																	140730929		1908	4124	6032	140711113	SO:0001587	stop_gained	56104	exon1			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1102C>T	5.37:g.140730929C>T	ENSP00000429273:p.Arg368*		140711113	NM_018922	Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.385450	0.82792	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.49	-1.73	0.08081	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	11.1443	0.48422	0.6713:0.2645:0.0:0.0642	.	.	.	.	X	368	.	ENSP00000429273:R368X	R	+	1	2	PCDHGB1	140711113	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-3.032000	0.00637	-0.205000	0.10219	0.563000	0.77884	CGA		0.433	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGB2	56103	broad.mit.edu	37	5	140739862	140739862	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140739862C>A	ENST00000522605.1	+	1	160	c.160C>A	c.(160-162)Ctg>Atg	p.L54M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L54M(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAGGATCTGGGGCTCAG	0.562																																					p.L54M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C160A	5						.						49.0	51.0	51.0					5																	140739862		1844	4089	5933	140720046	SO:0001583	missense	56103	exon1			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.160C>A	5.37:g.140739862C>A	ENSP00000429018:p.Leu54Met		140720046	NM_018923	Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.76	2.333815	0.41297	.	.	ENSG00000253910	ENST00000522605	T	0.59364	0.27	5.11	4.24	0.50183	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.82926	0.5143	H	0.96111	3.77	0.26501	N	0.974775	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77840	-0.2438	9	0.87932	D	0	.	13.3384	0.60530	0.0:0.9224:0.0:0.0776	.	54;54	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	M	54	ENSP00000429018:L54M	ENSP00000429018:L54M	L	+	1	2	PCDHGB2	140720046	0.621000	0.27077	0.993000	0.49108	0.423000	0.31445	0.026000	0.13599	1.275000	0.44379	0.563000	0.77884	CTG		0.562	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923	
PCDHGA5	56110	broad.mit.edu	37	5	140744800	140744800	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140744800C>A	ENST00000518069.1	+	1	903	c.903C>A	c.(901-903)atC>atA	p.I301I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I301I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGAAATCTCAACTCTAC	0.453																																					p.I301I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C903A	5						.						39.0	40.0	40.0					5																	140744800		1888	4117	6005	140724984	SO:0001819	synonymous_variant	56110	exon1			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.903C>A	5.37:g.140744800C>A			140724984	NM_032054	Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	CCDS54925.1																																																																																				0.453	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGB3	56102	broad.mit.edu	37	5	140750029	140750029	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140750029C>A	ENST00000576222.1	+	1	199	c.68C>A	c.(67-69)tCt>tAt	p.S23Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGCTCTCTTTGTTAGAC	0.582																																					p.S23Y												.	.	0			c.C68A	5						.						51.0	58.0	56.0					5																	140750029		1886	4105	5991	140730213	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.68C>A	5.37:g.140750029C>A	ENSP00000461862:p.Ser23Tyr		140730213	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	broad.mit.edu	37	5	140751376	140751376	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140751376C>T	ENST00000576222.1	+	1	1546	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	472	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCCATTGCGCATGTCAGA	0.577																																					p.A472V												.	.	0			c.C1415T	5						.						112.0	115.0	114.0					5																	140751376		2101	4234	6335	140731560	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1415C>T	5.37:g.140751376C>T	ENSP00000461862:p.Ala472Val		140731560	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.577	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	broad.mit.edu	37	5	140751630	140751630	+	Missense_Mutation	SNP	G	G	A	rs571325193		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140751630G>A	ENST00000576222.1	+	1	1800	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	557	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCAACGACAATGCACC	0.662																																					p.D557N												.	.	0			c.G1669A	5						.						37.0	47.0	44.0					5																	140751630		2191	4296	6487	140731814	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1669G>A	5.37:g.140751630G>A	ENSP00000461862:p.Asp557Asn		140731814	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.662	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA6	56109	broad.mit.edu	37	5	140753848	140753848	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140753848C>T	ENST00000517434.1	+	1	198	c.198C>T	c.(196-198)atC>atT	p.I66I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I66I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGCATCGTCTCCAGAG	0.592																																					p.I66I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	5						.						52.0	59.0	57.0					5																	140753848		2200	4300	6500	140734032	SO:0001819	synonymous_variant	56109	exon1			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.198C>T	5.37:g.140753848C>T			140734032	NM_032086	A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	CCDS54926.1																																																																																				0.592	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
PCDHGA6	56109	broad.mit.edu	37	5	140755889	140755889	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140755889C>T	ENST00000517434.1	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R747W(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGGGGTTCGGGCTTTCCT	0.597																																					p.R747W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2239T	5						.						78.0	82.0	81.0					5																	140755889		2203	4300	6503	140736073	SO:0001583	missense	56109	exon1			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2239C>T	5.37:g.140755889C>T	ENSP00000429601:p.Arg747Trp		140736073	NM_032086	A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154203	0.38021	.	.	ENSG00000253731	ENST00000517434	T	0.45276	0.9	5.15	2.18	0.27775	.	0.404413	0.13708	U	0.368302	T	0.45776	0.1359	M	0.81179	2.53	0.22835	N	0.998676	P;P	0.48640	0.913;0.747	B;B	0.42087	0.375;0.256	T	0.42515	-0.9447	10	0.66056	D	0.02	.	10.0326	0.42109	0.2723:0.5958:0.1319:0.0	.	747;747	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	W	747	ENSP00000429601:R747W	ENSP00000429601:R747W	R	+	1	2	PCDHGA6	140736073	0.003000	0.15002	0.995000	0.50966	0.410000	0.31052	-0.001000	0.12947	0.843000	0.35070	0.655000	0.94253	CGG		0.597	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
PCDHGA7	56108	broad.mit.edu	37	5	140762865	140762865	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140762865C>A	ENST00000518325.1	+	1	399	c.399C>A	c.(397-399)ttC>ttA	p.F133L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	133	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F133F(1)|p.F133L(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAAGATTCTTGACGGAAG	0.418																																					p.F133L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C399A	5						.						62.0	68.0	66.0					5																	140762865		1919	4140	6059	140743049	SO:0001583	missense	56108	exon1			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.399C>A	5.37:g.140762865C>A	ENSP00000430024:p.Phe133Leu		140743049	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	16.56	3.158710	0.57368	.	.	ENSG00000253537	ENST00000518325	T	0.28895	1.59	5.01	4.13	0.48395	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.73337	0.3574	H	0.99924	4.96	0.26487	N	0.975011	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71178	-0.4669	9	0.87932	D	0	.	9.002	0.36088	0.0:0.7764:0.0:0.2236	.	133;133	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	133	ENSP00000430024:F133L	ENSP00000430024:F133L	F	+	3	2	PCDHGA7	140743049	0.109000	0.22037	0.980000	0.43619	0.846000	0.48090	0.405000	0.21015	2.475000	0.83589	0.655000	0.94253	TTC		0.418	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA7	56108	broad.mit.edu	37	5	140764512	140764512	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140764512C>T	ENST00000518325.1	+	1	2046	c.2046C>T	c.(2044-2046)gaC>gaT	p.D682D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	682	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D682D(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCTCCGACGGTCCTTACA	0.627																																					p.D682D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2046T	5						.						58.0	66.0	63.0					5																	140764512		2203	4300	6503	140744696	SO:0001819	synonymous_variant	56108	exon1			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2046C>T	5.37:g.140764512C>T			140744696	NM_032087	B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	CCDS54927.1																																																																																				0.627	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA7	56108	broad.mit.edu	37	5	140764604	140764604	+	Missense_Mutation	SNP	C	C	T	rs189127761	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140764604C>T	ENST00000518325.1	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	713					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A713V(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGCTGGCGCTCAGGCTG	0.632																																					p.A713V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2138T	5						.						57.0	62.0	60.0					5																	140764604		2203	4300	6503	140744788	SO:0001583	missense	56108	exon1			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2138C>T	5.37:g.140764604C>T	ENSP00000430024:p.Ala713Val		140744788	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149452	0.37923	.	.	ENSG00000253537	ENST00000518325	T	0.52295	0.67	4.93	3.13	0.36017	.	.	.	.	.	T	0.37865	0.1019	L	0.49640	1.575	0.19775	N	0.99996	B;P	0.35107	0.087;0.484	B;B	0.31337	0.037;0.128	T	0.19976	-1.0289	9	0.42905	T	0.14	.	7.0638	0.25141	0.0:0.7074:0.142:0.1506	.	713;713	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	V	713	ENSP00000430024:A713V	ENSP00000430024:A713V	A	+	2	0	PCDHGA7	140744788	0.001000	0.12720	0.415000	0.26534	0.496000	0.33645	0.529000	0.23019	0.589000	0.29677	0.563000	0.77884	GCG		0.632	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGB4	8641	broad.mit.edu	37	5	140769029	140769029	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140769029C>T	ENST00000519479.1	+	1	1578	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F526F(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCCTTCGAACTCACAC	0.677																																					p.F526F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1578T	5						.						39.0	44.0	43.0					5																	140769029		2042	4189	6231	140749213	SO:0001819	synonymous_variant	8641	exon1			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1578C>T	5.37:g.140769029C>T			140749213	NM_032098	O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	CCDS54928.1																																																																																				0.677	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
PCDHGB4	8641	broad.mit.edu	37	5	140769121	140769121	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140769121C>T	ENST00000519479.1	+	1	1670	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A557V(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCACGGGTG	0.667																																					p.A557V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1670T	5						.						37.0	47.0	43.0					5																	140769121		2145	4251	6396	140749305	SO:0001583	missense	8641	exon1			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1670C>T	5.37:g.140769121C>T	ENSP00000428288:p.Ala557Val		140749305	NM_032098	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.746614	0.49257	.	.	ENSG00000253953	ENST00000519479	T	0.42513	0.97	5.05	5.05	0.67936	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.47469	0.1447	M	0.66560	2.04	0.27628	N	0.948121	P;P	0.49635	0.921;0.926	B;B	0.41764	0.366;0.271	T	0.52064	-0.8625	9	0.54805	T	0.06	.	18.4161	0.90571	0.0:1.0:0.0:0.0	.	557;557	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	557	ENSP00000428288:A557V	ENSP00000428288:A557V	A	+	2	0	PCDHGB4	140749305	0.092000	0.21681	1.000000	0.80357	0.053000	0.15095	2.943000	0.49026	2.503000	0.84419	0.563000	0.77884	GCG		0.667	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
PCDHGA8	9708	broad.mit.edu	37	5	140774388	140774388	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140774388G>A	ENST00000398604.2	+	1	2008	c.2008G>A	c.(2008-2010)Gaa>Aaa	p.E670K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E670K(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCCCCGAAGTCCTGAC	0.627																																					p.E670K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2008A	5						.						44.0	50.0	48.0					5																	140774388		2203	4297	6500	140754572	SO:0001583	missense	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2008G>A	5.37:g.140774388G>A	ENSP00000381605:p.Glu670Lys		140754572	NM_032088	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	31	5.069461	0.93950	.	.	ENSG00000253767	ENST00000398604	T	0.50001	0.76	5.03	5.03	0.67393	Cadherin (1);	0.000000	0.31233	U	0.008006	T	0.39835	0.1093	L	0.52126	1.63	0.32309	N	0.563997	B;P	0.40032	0.239;0.699	B;B	0.33254	0.077;0.16	T	0.60556	-0.7240	10	0.87932	D	0	.	12.462	0.55736	0.0813:0.0:0.9187:0.0	.	670;670	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	K	670	ENSP00000381605:E670K	ENSP00000381605:E670K	E	+	1	0	PCDHGA8	140754572	0.987000	0.35691	0.183000	0.23137	0.871000	0.50021	2.859000	0.48364	2.348000	0.79779	0.655000	0.94253	GAA		0.627	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGB3	56102	broad.mit.edu	37	5	140778319	140778319	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140778319C>T	ENST00000576222.1	+	1	2546				PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTTACCATCGTTTAGTCCT	0.498																																					p.R209C												.	.	0			c.C625T	5						.																																			140758503	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+25943C>T	5.37:g.140778319C>T			140758503	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	broad.mit.edu	37	5	140778759	140778759	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140778759C>T	ENST00000576222.1	+	1	2546				PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGGAAAACGCGGTGCCTG	0.378																																					p.N355N												.	.	0			c.C1065T	5						.						79.0	79.0	79.0					5																	140778759		1876	4106	5982	140758943	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26383C>T	5.37:g.140778759C>T			140758943	NM_032099	A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.378	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	broad.mit.edu	37	5	140779346	140779346	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140779346G>A	ENST00000576222.1	+	1	2546				PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGACCGAAACGACAAC	0.682																																					p.R551Q												.	.	0			c.G1652A	5						.						28.0	36.0	33.0					5																	140779346		2060	4216	6276	140759530	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26970G>A	5.37:g.140779346G>A			140759530	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.682	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA9	56107	broad.mit.edu	37	5	140783114	140783114	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140783114G>A	ENST00000573521.1	+	1	595	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGAGCGCGCCCTGGACAG	0.637																																					p.A199T												.	.	0			c.G595A	5						.						38.0	43.0	41.0					5																	140783114		2045	4185	6230	140763298	SO:0001583	missense	56107	exon1			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.595G>A	5.37:g.140783114G>A	ENSP00000460274:p.Ala199Thr		140763298	NM_018921	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																				0.637	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
PCDHGA9	56107	broad.mit.edu	37	5	140783683	140783683	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140783683G>T	ENST00000573521.1	+	1	1164	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	388	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCCAGGAGAATCTATCTT	0.403																																					p.E388D												.	.	0			c.G1164T	5						.						33.0	33.0	33.0					5																	140783683		1866	4102	5968	140763867	SO:0001583	missense	56107	exon1			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1164G>T	5.37:g.140783683G>T	ENSP00000460274:p.Glu388Asp		140763867	NM_018921	A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	CCDS58981.1																																																																																				0.403	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921	
PCDHGB6	56100	broad.mit.edu	37	5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140788951T>G	ENST00000520790.1	+	1	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I394M(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)			CATTCAAGATTTATTCTTCTT	0.453																																					p.I394M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1182G	5						.						50.0	53.0	52.0					5																	140788951		1920	4138	6058	140769135	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.1182T>G	5.37:g.140788951T>G	ENSP00000428603:p.Ile394Met		140769135	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	11.71	1.720291	0.30503	.	.	ENSG00000253305	ENST00000520790	T	0.64803	-0.12	5.47	-0.593	0.11667	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75443	0.3850	M	0.88570	2.965	0.09310	N	1	D;D	0.67145	0.996;0.995	D;D	0.72338	0.977;0.962	T	0.61806	-0.6987	9	0.66056	D	0.02	.	1.8193	0.03107	0.2275:0.1412:0.105:0.5262	.	394;394	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	M	394	ENSP00000428603:I394M	ENSP00000428603:I394M	I	+	3	3	PCDHGB6	140769135	0.000000	0.05858	0.196000	0.23383	0.821000	0.46438	-1.705000	0.01896	0.046000	0.15833	0.460000	0.39030	ATT		0.453	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB6	56100	broad.mit.edu	37	5	140789274	140789274	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140789274C>T	ENST00000520790.1	+	1	1505	c.1505C>T	c.(1504-1506)tCg>tTg	p.S502L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	502	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.S502L(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)			CTGGCGGTGTCGTCATACGTG	0.647																																					p.S502L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	5						.						20.0	23.0	22.0					5																	140789274		2030	4185	6215	140769458	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.1505C>T	5.37:g.140789274C>T	ENSP00000428603:p.Ser502Leu		140769458	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	9.564	1.119244	0.20877	.	.	ENSG00000253305	ENST00000520790	T	0.03094	4.05	5.36	3.22	0.36961	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06188	0.0160	M	0.63428	1.95	0.23780	N	0.996868	B;B	0.22346	0.068;0.055	B;B	0.26693	0.072;0.043	T	0.26643	-1.0097	9	0.54805	T	0.06	.	8.6264	0.33892	0.0:0.7488:0.147:0.1043	.	502;502	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	L	502	ENSP00000428603:S502L	ENSP00000428603:S502L	S	+	2	0	PCDHGB6	140769458	0.098000	0.21812	0.642000	0.29436	0.033000	0.12548	2.767000	0.47637	0.408000	0.25621	0.462000	0.41574	TCG		0.647	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGA10	56106	broad.mit.edu	37	5	140793453	140793453	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140793453C>T	ENST00000398610.2	+	1	711	c.711C>T	c.(709-711)ttC>ttT	p.F237F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	237	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.F237F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGTCTTCGATGCAAATG	0.572																																					p.F237F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C711T	5						.						45.0	48.0	47.0					5																	140793453		2063	4207	6270	140773637	SO:0001819	synonymous_variant	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.711C>T	5.37:g.140793453C>T			140773637	NM_032090	Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.572	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGA10	56106	broad.mit.edu	37	5	140793565	140793565	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140793565G>A	ENST00000398610.2	+	1	823	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E275K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAGGGACGAAGGTGCCAA	0.463																																					p.E275K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G823A	5						.						32.0	35.0	34.0					5																	140793565		1974	4176	6150	140773749	SO:0001583	missense	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.823G>A	5.37:g.140793565G>A	ENSP00000381611:p.Glu275Lys		140773749	NM_032090	Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.40	3.379284	0.61735	.	.	ENSG00000253846	ENST00000398610	T	0.01725	4.67	5.26	5.26	0.73747	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10766	0.0263	M	0.83312	2.635	0.23984	N	0.99626	D;D	0.69078	0.996;0.997	P;P	0.58520	0.752;0.84	T	0.01819	-1.1267	9	0.66056	D	0.02	.	18.8598	0.92267	0.0:0.0:1.0:0.0	.	275;275	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	K	275	ENSP00000381611:E275K	ENSP00000381611:E275K	E	+	1	0	PCDHGA10	140773749	0.927000	0.31430	0.991000	0.47740	0.852000	0.48524	2.128000	0.42045	2.462000	0.83206	0.455000	0.32223	GAA		0.463	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGA10	56106	broad.mit.edu	37	5	140794470	140794470	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140794470C>A	ENST00000398610.2	+	1	1728	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	576	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S576S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACGGTTCCACAGGCGTGG	0.652																																					p.S576S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1728A	5						.						123.0	140.0	134.0					5																	140794470		2203	4300	6503	140774654	SO:0001819	synonymous_variant	56106	exon1				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1728C>A	5.37:g.140794470C>A			140774654	NM_032090	Q9Y5E0	Silent	SNP	ENST00000398610.2	37	CCDS47292.1																																																																																				0.652	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913	
PCDHGB7	56099	broad.mit.edu	37	5	140797501	140797501	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140797501C>A	ENST00000398594.2	+	1	75	c.75C>A	c.(73-75)ttC>ttA	p.F25L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	25					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F25L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTTTGTTCTACCCCACGC	0.647											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F25L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C75A	5						.						40.0	41.0	41.0					5																	140797501		1926	4125	6051	140777685	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.75C>A	5.37:g.140797501C>A	ENSP00000381594:p.Phe25Leu	1659	140777685	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	12.27	1.888659	0.33348	.	.	ENSG00000254122	ENST00000398594	T	0.51325	0.71	5.92	5.01	0.66863	Cadherin-like (1);	0.000000	0.34245	U	0.004121	T	0.22859	0.0552	N	0.08118	0	0.22446	N	0.999096	B;B	0.13594	0.008;0.007	B;B	0.23275	0.029;0.045	T	0.22941	-1.0202	10	0.09590	T	0.72	.	7.052	0.25079	0.0:0.7063:0.1496:0.1441	.	25;25	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	25	ENSP00000381594:F25L	ENSP00000381594:F25L	F	+	3	2	PCDHGB7	140777685	0.002000	0.14202	1.000000	0.80357	0.970000	0.65996	-0.067000	0.11579	2.822000	0.97130	0.650000	0.86243	TTC		0.647	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGB7	56099	broad.mit.edu	37	5	140798394	140798394	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140798394A>G	ENST00000398594.2	+	1	968	c.968A>G	c.(967-969)gAc>gGc	p.D323G	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D323G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCAAAAGACCGAGGATCT	0.393																																					p.D323G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A968G	5						.						75.0	70.0	71.0					5																	140798394		1881	4100	5981	140778578	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.968A>G	5.37:g.140798394A>G	ENSP00000381594:p.Asp323Gly		140778578	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	18.43	3.622786	0.66787	.	.	ENSG00000254122	ENST00000398594	T	0.80566	-1.39	5.7	5.7	0.88788	Cadherin (5);Cadherin-like (1);	0.000000	0.33854	U	0.004499	D	0.93897	0.8047	H	0.98525	4.255	0.43110	D	0.994818	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96349	0.9257	10	0.87932	D	0	.	15.6434	0.77025	1.0:0.0:0.0:0.0	.	323;323	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	323	ENSP00000381594:D323G	ENSP00000381594:D323G	D	+	2	0	PCDHGB7	140778578	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	7.470000	0.80973	2.189000	0.69895	0.459000	0.35465	GAC		0.393	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGB7	56099	broad.mit.edu	37	5	140798470	140798470	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140798470C>A	ENST00000398594.2	+	1	1044	c.1044C>A	c.(1042-1044)atC>atA	p.I348I	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	348	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I348I(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAAATAATCATCACGTCAC	0.448																																					p.I348I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1044A	5						.						75.0	70.0	72.0					5																	140798470		1883	4109	5992	140778654	SO:0001819	synonymous_variant	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1044C>A	5.37:g.140798470C>A			140778654	NM_032101	Q9UN63	Silent	SNP	ENST00000398594.2	37	CCDS47293.1																																																																																				0.448	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGA11	56105	broad.mit.edu	37	5	140801943	140801943	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140801943C>A	ENST00000398587.2	+	1	1182	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PCDHGA11_ENST00000518882.1_Silent_p.V383V|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V383V(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTCAAGTCTCCTGTTTTA	0.378																																					p.V383V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1149A	5						.						35.0	34.0	34.0					5																	140801943		1820	4078	5898	140782127	SO:0001819	synonymous_variant	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1149C>A	5.37:g.140801943C>A			140782127	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																				0.378	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PCDHGA11	56105	broad.mit.edu	37	5	140802450	140802450	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140802450C>T	ENST00000398587.2	+	1	1689	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	PCDHGA11_ENST00000518882.1_Silent_p.F552F|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	552	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.F552F(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGTTCGTGCTGGACC	0.617																																					p.F552F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1656T	5						.						157.0	177.0	170.0					5																	140802450		2203	4300	6503	140782634	SO:0001819	synonymous_variant	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1656C>T	5.37:g.140802450C>T			140782634	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	CCDS47294.1																																																																																				0.617	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PCDHGA12	26025	broad.mit.edu	37	5	140811390	140811390	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140811390C>T	ENST00000252085.3	+	1	1206	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	355	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S355L(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCCAGCTCGGTTCCCGAA	0.483																																					p.S355L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1064T	5						.						78.0	78.0	78.0					5																	140811390		2203	4300	6503	140791574	SO:0001583	missense	26025	exon1			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1064C>T	5.37:g.140811390C>T	ENSP00000252085:p.Ser355Leu		140791574	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.317218	0.40996	.	.	ENSG00000253159	ENST00000252085	T	0.02631	4.22	4.54	4.54	0.55810	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.09024	0.0223	M	0.84846	2.72	0.18873	N	0.999983	B;B	0.28208	0.203;0.151	B;B	0.30782	0.073;0.12	T	0.03807	-1.1002	9	0.59425	D	0.04	.	17.077	0.86589	0.0:1.0:0.0:0.0	.	355;355	O60330-2;O60330	.;PCDGC_HUMAN	L	355	ENSP00000252085:S355L	ENSP00000252085:S355L	S	+	2	0	PCDHGA12	140791574	0.011000	0.17503	0.881000	0.34555	0.564000	0.35744	2.585000	0.46111	2.348000	0.79779	0.655000	0.94253	TCG		0.483	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PCDHGA12	26025	broad.mit.edu	37	5	140811453	140811453	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140811453C>A	ENST00000252085.3	+	1	1269	c.1127C>A	c.(1126-1128)tCt>tAt	p.S376Y	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S376Y(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGATTCTGAGGAAAAC	0.423																																					p.S376Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1127A	5						.						51.0	58.0	56.0					5																	140811453		2203	4300	6503	140791637	SO:0001583	missense	26025	exon1			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1127C>A	5.37:g.140811453C>A	ENSP00000252085:p.Ser376Tyr		140791637	NM_032094	O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.352164	0.61183	.	.	ENSG00000253159	ENST00000252085	T	0.02709	4.19	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17280	0.0415	H	0.94886	3.595	0.37328	D	0.909842	P;P	0.49185	0.882;0.92	P;P	0.52031	0.688;0.678	T	0.32025	-0.9922	9	0.72032	D	0.01	.	17.4157	0.87499	0.0:1.0:0.0:0.0	.	376;376	O60330-2;O60330	.;PCDGC_HUMAN	Y	376	ENSP00000252085:S376Y	ENSP00000252085:S376Y	S	+	2	0	PCDHGA12	140791637	0.996000	0.38824	1.000000	0.80357	0.710000	0.40934	3.818000	0.55678	2.425000	0.82216	0.655000	0.94253	TCT		0.423	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PCDHGA12	26025	broad.mit.edu	37	5	140811553	140811553	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140811553C>A	ENST00000252085.3	+	1	1369	c.1227C>A	c.(1225-1227)gtC>gtA	p.V409V	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V409V(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATAGTCTTGGATAGGG	0.463																																					p.V409V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1227A	5						.						41.0	46.0	45.0					5																	140811553		2203	4300	6503	140791737	SO:0001819	synonymous_variant	26025	exon1			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1227C>A	5.37:g.140811553C>A			140791737	NM_032094	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																				0.463	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PCDHGA12	26025	broad.mit.edu	37	5	140812012	140812012	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140812012C>A	ENST00000252085.3	+	1	1828	c.1686C>A	c.(1684-1686)atC>atA	p.I562I	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	562	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.I562I(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCCG	0.662																																					p.I562I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1686A	5						.						131.0	145.0	140.0					5																	140812012		2203	4300	6503	140792196	SO:0001819	synonymous_variant	26025	exon1			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1686C>A	5.37:g.140812012C>A			140792196	NM_032094	O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	CCDS4260.1																																																																																				0.662	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
PCDHGC3	5098	broad.mit.edu	37	5	140857056	140857056	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140857056C>A	ENST00000308177.3	+	1	1477	c.1373C>A	c.(1372-1374)tCt>tAt	p.S458Y	RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S458Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAATCTTCTCAATCTTCC	0.542																																					p.S458Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1373A	5						.						149.0	152.0	151.0					5																	140857056		2203	4300	6503	140837240	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1373C>A	5.37:g.140857056C>A	ENSP00000312070:p.Ser458Tyr		140837240	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984480	0.35036	.	.	ENSG00000240184	ENST00000308177	T	0.61510	0.1	5.19	4.32	0.51571	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.60534	0.2276	M	0.79258	2.445	0.09310	N	1	P;P	0.52842	0.956;0.755	P;B	0.44732	0.459;0.367	T	0.58335	-0.7654	9	0.62326	D	0.03	.	9.0771	0.36529	0.1461:0.78:0.0:0.0739	.	458;458	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	Y	458	ENSP00000312070:S458Y	ENSP00000312070:S458Y	S	+	2	0	PCDHGC3	140837240	0.002000	0.14202	0.996000	0.52242	0.930000	0.56654	1.249000	0.32839	1.555000	0.49500	0.655000	0.94253	TCT		0.542	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
PCDHGC4	56098	broad.mit.edu	37	5	140865374	140865374	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140865374C>A	ENST00000306593.1	+	1	634	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	212	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.L212M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCTGGTGCTGACTGCTGT	0.612																																					p.L212M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634A	5						.						31.0	34.0	33.0					5																	140865374		2203	4300	6503	140845558	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.634C>A	5.37:g.140865374C>A	ENSP00000306918:p.Leu212Met		140845558	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700141	0.48307	.	.	ENSG00000242419	ENST00000306593	T	0.23147	1.92	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59252	0.2180	M	0.92784	3.345	0.27124	N	0.962052	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.58901	-0.7554	9	0.87932	D	0	.	11.5769	0.50866	0.0:0.9179:0.0:0.0821	.	212;212	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	M	212	ENSP00000306918:L212M	ENSP00000306918:L212M	L	+	1	2	PCDHGC4	140845558	0.279000	0.24239	1.000000	0.80357	0.996000	0.88848	0.887000	0.28254	2.596000	0.87737	0.561000	0.74099	CTG		0.612	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
PCDHGC4	56098	broad.mit.edu	37	5	140865597	140865597	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:140865597C>A	ENST00000306593.1	+	1	857	c.857C>A	c.(856-858)cCt>cAt	p.P286H	PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P286H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCATACCCCTGATCGTGTA	0.507																																					p.P286H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C857A	5						.						79.0	89.0	85.0					5																	140865597		2203	4300	6503	140845781	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.857C>A	5.37:g.140865597C>A	ENSP00000306918:p.Pro286His		140845781	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587991	0.46110	.	.	ENSG00000242419	ENST00000306593	T	0.61392	0.11	4.87	3.99	0.46301	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74351	0.3705	M	0.70787	2.145	0.31113	N	0.709781	D;D	0.89917	1.0;1.0	D;D	0.79108	0.976;0.992	T	0.76410	-0.2969	9	0.52906	T	0.07	.	15.1228	0.72457	0.0:0.8581:0.1419:0.0	.	286;286	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	H	286	ENSP00000306918:P286H	ENSP00000306918:P286H	P	+	2	0	PCDHGC4	140845781	0.986000	0.35501	1.000000	0.80357	0.975000	0.68041	3.020000	0.49643	1.249000	0.43950	0.462000	0.41574	CCT		0.507	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
RELL2	285613	broad.mit.edu	37	5	141017850	141017850	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141017850C>A	ENST00000297164.3	+	1	1258	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	RELL2_ENST00000444782.1_Missense_Mutation_p.L20M|RELL2_ENST00000521367.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron|FCHSD1_ENST00000523856.1_5'Flank	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	20					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L20M(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGCTCTTCCTGCTTGTGCT	0.627																																					p.L20M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C58A	5						.						202.0	189.0	194.0					5																	141017850		2203	4300	6503	140998034	SO:0001583	missense	285613	exon2			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.58C>A	5.37:g.141017850C>A	ENSP00000297164:p.Leu20Met		140998034	NM_001130029	D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781234	0.70222	.	.	ENSG00000164620	ENST00000444782;ENST00000297164	T;T	0.16196	2.36;2.36	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000034	T	0.30854	0.0778	N	0.19112	0.55	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	T	0.05533	-1.0879	10	0.59425	D	0.04	-6.6829	19.8177	0.96578	0.0:1.0:0.0:0.0	.	20	Q8NC24	RELL2_HUMAN	M	20	ENSP00000409443:L20M;ENSP00000297164:L20M	ENSP00000297164:L20M	L	+	1	2	RELL2	140998034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.911000	0.39937	2.778000	0.95560	0.650000	0.86243	CTG		0.627	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828	
FCHSD1	89848	broad.mit.edu	37	5	141028814	141028814	+	Missense_Mutation	SNP	C	C	T	rs200855332		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141028814C>T	ENST00000435817.2	-	6	487	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	FCHSD1_ENST00000519800.1_Missense_Mutation_p.R144Q|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R70Q|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R144Q|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	146								p.R146Q(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCGACTTCGGCTCAGCTC	0.602																																					p.R146Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	5						.	C	GLN/ARG	0,4280		0,0,2140	107.0	123.0	118.0		437	5.1	1.0	5		118	4,8492		0,4,4244	no	missense	FCHSD1	NM_033449.2	43	0,4,6384	TT,TC,CC		0.0471,0.0,0.0313	possibly-damaging	146/691	141028814	4,12772	2140	4248	6388	141008998	SO:0001583	missense	89848	exon6			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.437G>A	5.37:g.141028814C>T	ENSP00000399259:p.Arg146Gln		141008998	NM_033449	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265929	0.80358	0.0	4.71E-4	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.11	5.11	0.69529	.	0.264830	0.28589	N	0.014804	T	0.11239	0.0274	L	0.36672	1.1	0.30553	N	0.765236	P	0.50710	0.938	B	0.41174	0.349	T	0.08411	-1.0723	10	0.66056	D	0.02	-11.6664	8.2676	0.31824	0.0:0.8578:0.0:0.1422	.	146	Q86WN1	FCSD1_HUMAN	Q	146;70;144;144	ENSP00000399259:R146Q;ENSP00000427796:R70Q;ENSP00000428677:R144Q;ENSP00000428776:R144Q	ENSP00000399259:R146Q	R	-	2	0	FCHSD1	141008998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.625000	0.54238	2.368000	0.80403	0.561000	0.74099	CGA		0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	
FCHSD1	89848	broad.mit.edu	37	5	141029952	141029952	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141029952C>A	ENST00000435817.2	-	3	189	c.139G>T	c.(139-141)Gca>Tca	p.A47S	FCHSD1_ENST00000519800.1_Missense_Mutation_p.A47S|FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A47S|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	47	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.							p.A47S(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAATGGCTGCCCTCTGCTTG	0.517																																					p.A47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139T	5						.						106.0	109.0	108.0					5																	141029952		1974	4158	6132	141010136	SO:0001583	missense	89848	exon3			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.139G>T	5.37:g.141029952C>A	ENSP00000399259:p.Ala47Ser		141010136	NM_033449	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658350	0.67586	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000519800	T;T;T	0.19669	2.13;2.13;2.13	5.04	5.04	0.67666	Fps/Fes/Fer/CIP4 homology (2);	0.152719	0.40222	N	0.001143	T	0.26048	0.0635	L	0.33189	0.99	0.40048	D	0.975732	D	0.55605	0.972	P	0.55303	0.773	T	0.01648	-1.1304	10	0.25751	T	0.34	-16.1355	12.1819	0.54216	0.1705:0.8295:0.0:0.0	.	47	Q86WN1	FCSD1_HUMAN	S	47	ENSP00000399259:A47S;ENSP00000428677:A47S;ENSP00000428776:A47S	ENSP00000399259:A47S	A	-	1	0	FCHSD1	141010136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.064000	0.41432	2.329000	0.79093	0.556000	0.70494	GCA		0.517	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	
ARAP3	64411	broad.mit.edu	37	5	141039454	141039454	+	Silent	SNP	C	C	G			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141039454C>G	ENST00000239440.4	-	22	3224	c.3159G>C	c.(3157-3159)cgG>cgC	p.R1053R	ARAP3_ENST00000508305.1_Silent_p.R884R|ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R1053R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557																																					p.R1053R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3159C	5						.						59.0	50.0	53.0					5																	141039454		2203	4298	6501	141019638	SO:0001819	synonymous_variant	64411	exon22			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3159G>C	5.37:g.141039454C>G			141019638	NM_022481	B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	CCDS4266.1																																																																																				0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
ARAP3	64411	broad.mit.edu	37	5	141050901	141050901	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141050901C>A	ENST00000239440.4	-	13	1986	c.1921G>T	c.(1921-1923)Gcc>Tcc	p.A641S	ARAP3_ENST00000508305.1_Missense_Mutation_p.A563S|ARAP3_ENST00000513878.1_Missense_Mutation_p.A303S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	641					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A641S(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTTCAAAGGCCTCAACACAG	0.627																																					p.A641S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1921T	5						.						73.0	67.0	69.0					5																	141050901		2203	4300	6503	141031085	SO:0001583	missense	64411	exon13			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1921G>T	5.37:g.141050901C>A	ENSP00000239440:p.Ala641Ser		141031085	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995349	0.19043	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.15718	2.4;3.17;3.0	2.69	0.82	0.18793	.	1.654710	0.03701	N	0.248613	T	0.11965	0.0291	L	0.34521	1.04	0.09310	N	1	B;P;B	0.42941	0.015;0.794;0.049	B;B;B	0.39805	0.007;0.31;0.024	T	0.17715	-1.0360	10	0.07325	T	0.83	.	5.1428	0.14969	0.0:0.7041:0.0:0.2959	.	303;563;641	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	S	563;641;303	ENSP00000421826:A563S;ENSP00000239440:A641S;ENSP00000421468:A303S	ENSP00000239440:A641S	A	-	1	0	ARAP3	141031085	0.495000	0.26051	0.003000	0.11579	0.554000	0.35429	0.336000	0.19823	0.191000	0.20236	0.563000	0.77884	GCC		0.627	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
KIAA0141	9812	broad.mit.edu	37	5	141318237	141318237	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141318237C>T	ENST00000432126.2	+	12	1595	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	KIAA0141_ENST00000194118.4_Silent_p.L487L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	487					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.L487L(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCATCTCGGAGCCAGCC	0.572																																					p.L487L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1461T	5						.						93.0	92.0	93.0					5																	141318237		2203	4300	6503	141298421	SO:0001819	synonymous_variant	9812	exon12			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1461C>T	5.37:g.141318237C>T			141298421	NM_001142603	Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	CCDS4268.1	.	.	.	.	.	.	.	.	.	.	C	4.995	0.184788	0.09495	.	.	ENSG00000081791	ENST00000507481	.	.	.	5.11	-7.93	0.01156	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31806	-0.9930	4	.	.	.	-5.39	8.7739	0.34749	0.0:0.1856:0.2196:0.5948	.	.	.	.	L	189	.	.	S	+	2	0	KIAA0141	141298421	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-3.682000	0.00394	-1.623000	0.01558	-0.136000	0.14681	TCG		0.572	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773	
PCDH12	51294	broad.mit.edu	37	5	141336893	141336893	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141336893G>T	ENST00000231484.3	-	1	1734	c.524C>A	c.(523-525)tCt>tAt	p.S175Y	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S175Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTGGGAGACAGAGTGTA	0.547																																					p.S175Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524A	5						.						109.0	123.0	118.0					5																	141336893		2203	4300	6503	141317077	SO:0001583	missense	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.524C>A	5.37:g.141336893G>T	ENSP00000231484:p.Ser175Tyr		141317077	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033441	0.54896	.	.	ENSG00000113555	ENST00000231484	T	0.54479	0.57	4.98	4.98	0.66077	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	H	0.96805	3.885	0.49299	D	0.999773	D	0.89917	1.0	D	0.72338	0.977	D	0.87540	0.2458	10	0.87932	D	0	.	15.7994	0.78439	0.0:0.0:1.0:0.0	.	175	Q9NPG4	PCD12_HUMAN	Y	175	ENSP00000231484:S175Y	ENSP00000231484:S175Y	S	-	2	0	PCDH12	141317077	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.458000	0.73509	2.605000	0.88082	0.655000	0.94253	TCT		0.547	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
PCDH12	51294	broad.mit.edu	37	5	141337279	141337279	+	Silent	SNP	G	G	A	rs144137657		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:141337279G>A	ENST00000231484.3	-	1	1348	c.138C>T	c.(136-138)atC>atT	p.I46I	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I46I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCTTCCCGATCACTGTAC	0.587																																					p.I46I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	5						.	G		1,4405	2.1+/-5.4	0,1,2202	90.0	92.0	91.0		138	-1.1	1.0	5	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	PCDH12	NM_016580.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		46/1185	141337279	1,13005	2203	4300	6503	141317463	SO:0001819	synonymous_variant	51294	exon1			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.138C>T	5.37:g.141337279G>A			141317463	NM_016580	Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	ENST00000231484.3	37	CCDS4269.1																																																																																				0.587	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580	
ARHGAP26	23092	broad.mit.edu	37	5	142593624	142593624	+	Missense_Mutation	SNP	C	C	T	rs182566788		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:142593624C>T	ENST00000274498.4	+	22	2705	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L	ARHGAP26_ENST00000486650.1_3'UTR|ARHGAP26_ENST00000378004.3_Missense_Mutation_p.S721L	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	776	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.S776L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAACTTTCGTTCACAGCA	0.483																																					p.S776L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2327T	5						.						56.0	44.0	48.0					5																	142593624		2203	4300	6503	142573817	SO:0001583	missense	23092	exon22			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.2327C>T	5.37:g.142593624C>T	ENSP00000274498:p.Ser776Leu		142573817	NM_015071	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.308235|5.308235	0.95629|0.95629	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000443674;ENST00000418236;ENST00000425417|ENST00000274498;ENST00000378004	.|T;T	.|0.23754	.|1.89;1.89	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Src homology-3 domain (4);	.|0.139951	.|0.49916	.|D	.|0.000132	T|T	0.68824|0.68824	0.3043|0.3043	H|H	0.97940|0.97940	4.11|4.11	0.51482|0.51482	D|D	0.999928|0.999928	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.76575	.|0.988;0.947	T|T	0.81745|0.81745	-0.0792|-0.0792	5|10	.|0.66056	.|D	.|0.02	.|.	19.113|19.113	0.93326|0.93326	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|776;721	.|Q9UNA1;Q9UNA1-2	.|RHG26_HUMAN;.	C|L	350;256;58|776;721	.|ENSP00000274498:S776L;ENSP00000367243:S721L	.|ENSP00000274498:S776L	R|S	+|+	1|2	0|0	ARHGAP26|ARHGAP26	142573817|142573817	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.910000|0.910000	0.53928|0.53928	7.248000|7.248000	0.78268|0.78268	2.494000|2.494000	0.84150|0.84150	0.650000|0.650000	0.86243|0.86243	CGT|TCG		0.483	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	
NR3C1	2908	broad.mit.edu	37	5	142680269	142680269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:142680269C>A	ENST00000343796.2	-	5	2521	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	NR3C1_ENST00000231509.3_Nonsense_Mutation_p.E511*|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.E510*|NR3C1_ENST00000504572.1_Nonsense_Mutation_p.E511*|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.E510*|NR3C1_ENST00000415690.2_Nonsense_Mutation_p.E510*|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.E511*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.E484*|NR3C1_ENST00000416954.2_Nonsense_Mutation_p.E113*	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	510	Hinge.|Interaction with CLOCK.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.E511*(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TCAGAGGTTTCTTGTGAGACT	0.393																																					p.E510X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1528T	5						.						137.0	128.0	131.0					5																	142680269		2203	4300	6503	142660462	SO:0001587	stop_gained	2908	exon5			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1528G>T	5.37:g.142680269C>A	ENSP00000343205:p.Glu510*		142660462	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Nonsense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	39	7.518150	0.98332	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	.	.	.	5.83	4.97	0.65823	.	0.466719	0.25146	N	0.032786	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	14.7154	0.69265	0.0:0.9309:0.0:0.0691	.	.	.	.	X	510;510;510;484;511;511;511;113;510	.	ENSP00000231509:E511X	E	-	1	0	NR3C1	142660462	1.000000	0.71417	0.992000	0.48379	0.323000	0.28346	4.917000	0.63369	1.466000	0.48025	0.655000	0.94253	GAA		0.393	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
TRIO	7204	broad.mit.edu	37	5	14291124	14291124	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:14291124G>A	ENST00000344204.4	+	5	864	c.840G>A	c.(838-840)caG>caA	p.Q280Q	TRIO_ENST00000537187.1_Silent_p.Q280Q|TRIO_ENST00000509967.2_Silent_p.Q231Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	280					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q280Q(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGGAGGGACAGAAGCTGCTTC	0.517																																					p.Q280Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840A	5						.						67.0	69.0	68.0					5																	14291124		2203	4300	6503	14344124	SO:0001819	synonymous_variant	7204	exon5			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.840G>A	5.37:g.14291124G>A			14344124	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.517	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
NR3C1	2908	broad.mit.edu	37	5	142779553	142779553	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:142779553G>A	ENST00000343796.2	-	2	1845	c.852C>T	c.(850-852)atC>atT	p.I284I	NR3C1_ENST00000231509.3_Silent_p.I284I|NR3C1_ENST00000503201.1_Silent_p.I284I|NR3C1_ENST00000504572.1_Silent_p.I284I|NR3C1_ENST00000394464.2_Silent_p.I284I|NR3C1_ENST00000415690.2_Silent_p.I284I|NR3C1_ENST00000394466.2_Silent_p.I284I|NR3C1_ENST00000424646.2_Silent_p.I284I|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	284	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.I284I(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TGCAGAGTTCGATGAAATCTT	0.413																																					p.I284I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C852T	5						.						99.0	104.0	102.0					5																	142779553		2203	4300	6503	142759746	SO:0001819	synonymous_variant	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.852C>T	5.37:g.142779553G>A			142759746	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
TRIO	7204	broad.mit.edu	37	5	14336771	14336771	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:14336771C>T	ENST00000344204.4	+	11	2005	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	TRIO_ENST00000537187.1_Missense_Mutation_p.R661W|TRIO_ENST00000509967.2_Missense_Mutation_p.R612W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	661					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R661W(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGATTTCGTTCGGCGTGTTGA	0.507																																					p.R661W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1981T	5						.						106.0	92.0	97.0					5																	14336771		2203	4300	6503	14389771	SO:0001583	missense	7204	exon11			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1981C>T	5.37:g.14336771C>T	ENSP00000339299:p.Arg661Trp		14389771	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548605	0.65311	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52526	0.66;0.66;0.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.62196	-0.6905	10	0.72032	D	0.01	.	13.3676	0.60694	0.2639:0.7361:0.0:0.0	.	612;661;661	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	W	661;661;612;348	ENSP00000339299:R661W;ENSP00000446348:R661W;ENSP00000445592:R612W	ENSP00000339299:R661W	R	+	1	2	TRIO	14389771	0.966000	0.33281	0.940000	0.37924	0.995000	0.86356	2.370000	0.44240	2.548000	0.85928	0.650000	0.86243	CGG		0.507	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
KCTD16	57528	broad.mit.edu	37	5	143586849	143586849	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:143586849G>A	ENST00000507359.3	+	2	1663	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R191Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	191					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.R191Q(2)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGAGTTCCCCGGATTTTGGTT	0.512																																					p.R191Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G572A	5						.						58.0	62.0	60.0					5																	143586849		2203	4300	6503	143567042	SO:0001583	missense	57528	exon3			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.572G>A	5.37:g.143586849G>A	ENSP00000426548:p.Arg191Gln		143567042	NM_020768	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621679	0.87460	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.67865	-0.29;-0.29	5.69	5.69	0.88448	.	0.113744	0.64402	D	0.000017	T	0.74612	0.3739	M	0.85630	2.765	0.80722	D	1	D	0.59357	0.985	B	0.43331	0.416	T	0.81050	-0.1108	10	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	191	Q68DU8	KCD16_HUMAN	Q	191	ENSP00000424151:R191Q;ENSP00000426548:R191Q	ENSP00000426548:R191Q	R	+	2	0	KCTD16	143567042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.807000	0.99171	2.700000	0.92200	0.561000	0.74099	CGG		0.512	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
GRXCR2	643226	broad.mit.edu	37	5	145246210	145246210	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145246210C>A	ENST00000377976.1	-	2	417	c.418G>T	c.(418-420)Gat>Tat	p.D140Y		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	140						cell projection (GO:0042995)		p.D140Y(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCACAAAATCTCTCTTGTCC	0.418																																					p.D140Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418T	5						.						126.0	124.0	125.0					5																	145246210		2203	4300	6503	145226403	SO:0001583	missense	643226	exon2				CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.418G>T	5.37:g.145246210C>A	ENSP00000367214:p.Asp140Tyr		145226403	NM_001080516		Missense_Mutation	SNP	ENST00000377976.1	37	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247666	0.59103	.	.	ENSG00000204928	ENST00000377976	T	0.25085	1.82	5.42	5.42	0.78866	.	0.103621	0.64402	D	0.000003	T	0.40815	0.1132	L	0.51422	1.61	0.38631	D	0.951363	D	0.59357	0.985	P	0.55303	0.773	T	0.16928	-1.0386	10	0.40728	T	0.16	-11.5763	19.2175	0.93783	0.0:1.0:0.0:0.0	.	140	A6NFK2	GRCR2_HUMAN	Y	140	ENSP00000367214:D140Y	ENSP00000367214:D140Y	D	-	1	0	GRXCR2	145226403	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	2.582000	0.46085	2.536000	0.85505	0.455000	0.32223	GAT		0.418	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2		
LARS	51520	broad.mit.edu	37	5	145502107	145502107	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145502107T>G	ENST00000394434.2	-	30	3306	c.3140A>C	c.(3139-3141)aAa>aCa	p.K1047T	LARS_ENST00000545646.1_Missense_Mutation_p.K1001T|LARS_ENST00000510191.1_Missense_Mutation_p.K993T|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000274562.9_Missense_Mutation_p.K1020T	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1047					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.K1047T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TTCCCTGATTTTATCTTCTGC	0.348																																					p.K1047T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3140C	5						.						147.0	138.0	141.0					5																	145502107		2203	4300	6503	145482300	SO:0001583	missense	51520	exon30			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3140A>C	5.37:g.145502107T>G	ENSP00000377954:p.Lys1047Thr		145482300	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111606	0.56398	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.67345	-0.25;-0.25;-0.24;-0.26	5.63	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.75447	2.3	0.80722	D	1	B;B;B	0.26081	0.017;0.141;0.07	B;B;B	0.26094	0.066;0.041;0.066	T	0.62567	-0.6827	10	0.33940	T	0.23	.	13.0696	0.59053	0.0:0.0:0.1343:0.8657	.	1020;1001;1047	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	T	1047;1001;356;993;1020	ENSP00000377954:K1047T;ENSP00000437791:K1001T;ENSP00000426005:K993T;ENSP00000274562:K1020T	ENSP00000274562:K1020T	K	-	2	0	LARS	145482300	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.613000	0.67688	1.041000	0.40125	0.533000	0.62120	AAA		0.348	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
RBM27	54439	broad.mit.edu	37	5	145613128	145613128	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145613128G>A	ENST00000265271.5	+	7	1132	c.966G>A	c.(964-966)ggG>ggA	p.G322G	RBM27_ENST00000506502.1_Silent_p.G322G	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	322	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G322G(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTCCTGGGCTTCCTCCTC	0.582																																					p.G322G												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G966A	5						.						171.0	157.0	161.0					5																	145613128		1568	3582	5150	145593321	SO:0001819	synonymous_variant	54439	exon7			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.966G>A	5.37:g.145613128G>A			145593321	NM_018989	Q8IYW9	Silent	SNP	ENST00000265271.5	37	CCDS43378.1																																																																																				0.582	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
POU4F3	5459	broad.mit.edu	37	5	145719977	145719977	+	Missense_Mutation	SNP	G	G	T	rs543894486		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145719977G>T	ENST00000230732.4	+	2	1076	c.987G>T	c.(985-987)caG>caT	p.Q329H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	329					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q329H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACAGAAACAGAAACGAATGA	0.562																																					p.Q329H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G987T	5						.						48.0	47.0	47.0					5																	145719977		2203	4300	6503	145700170	SO:0001583	missense	5459	exon2			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.987G>T	5.37:g.145719977G>T	ENSP00000230732:p.Gln329His		145700170	NM_002700	O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064980	0.55432	.	.	ENSG00000091010	ENST00000230732	D	0.96232	-3.95	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.95965	0.8686	N	0.16833	0.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97234	0.9886	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:1.0:0.0	.	329	Q15319	PO4F3_HUMAN	H	329	ENSP00000230732:Q329H	ENSP00000230732:Q329H	Q	+	3	2	POU4F3	145700170	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.511000	0.67024	2.372000	0.80975	0.462000	0.41574	CAG		0.562	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
TCERG1	10915	broad.mit.edu	37	5	145836747	145836747	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145836747G>T	ENST00000296702.5	+	3	325	c.287G>T	c.(286-288)aGa>aTa	p.R96I	TCERG1_ENST00000394421.2_Splice_Site_p.R96I	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	96	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R96I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATTAACAGAGACCACCTTTC	0.418																																					p.R96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287T	5						.						158.0	149.0	152.0					5																	145836747		2203	4300	6503	145816940	SO:0001630	splice_region_variant	10915	exon3			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.286-1G>T	5.37:g.145836747G>T			145816940	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048518	0.75846	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.82;1.8	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	L	0.32530	0.975	0.80722	D	1	D;D;D	0.65815	0.995;0.994;0.99	D;D;D	0.72982	0.979;0.975;0.944	T	0.08932	-1.0698	10	0.32370	T	0.25	-18.845	18.9097	0.92477	0.0:0.0:1.0:0.0	.	96;96;96	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	I	96	ENSP00000296702:R96I;ENSP00000377943:R96I	ENSP00000296702:R96I	R	+	2	0	TCERG1	145816940	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.448000	0.97600	2.463000	0.83235	0.491000	0.48974	AGA		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	Missense_Mutation
TCERG1	10915	broad.mit.edu	37	5	145838886	145838886	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145838886C>T	ENST00000296702.5	+	4	916	c.878C>T	c.(877-879)gCg>gTg	p.A293V	TCERG1_ENST00000394421.2_Missense_Mutation_p.A293V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	293	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.A293V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCAGTTGCGCAGACAGTA	0.463																																					p.A293V												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C878T	5						.						157.0	145.0	149.0					5																	145838886		2203	4300	6503	145819079	SO:0001583	missense	10915	exon4			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.878C>T	5.37:g.145838886C>T	ENSP00000296702:p.Ala293Val		145819079	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	5.247	0.230989	0.09969	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.77098	-1.07;-1.07	5.33	3.55	0.40652	.	0.206931	0.43747	D	0.000526	T	0.62356	0.2421	N	0.24115	0.695	0.31980	N	0.606	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.57888	-0.7733	10	0.17369	T	0.5	-0.2268	12.0659	0.53588	0.0:0.8775:0.0:0.1225	.	293;293;293	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	293	ENSP00000296702:A293V;ENSP00000377943:A293V	ENSP00000296702:A293V	A	+	2	0	TCERG1	145819079	0.951000	0.32395	0.878000	0.34440	0.941000	0.58515	1.940000	0.40223	0.735000	0.32537	0.563000	0.77884	GCG		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	broad.mit.edu	37	5	145882992	145882992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145882992C>T	ENST00000296702.5	+	17	2475	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R792*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	813	FF 3.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R813*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCAGTCTCGATGGAGCAA	0.353																																					p.R792X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2374T	5						.						89.0	82.0	84.0					5																	145882992		2203	4299	6502	145863185	SO:0001587	stop_gained	10915	exon16			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2437C>T	5.37:g.145882992C>T	ENSP00000296702:p.Arg813*		145863185	NM_001040006	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	41	8.545074	0.98857	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.05	4.17	0.49024	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2342	15.0326	0.71720	0.1437:0.8563:0.0:0.0	.	.	.	.	X	813;792	.	ENSP00000296702:R813X	R	+	1	2	TCERG1	145863185	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.597000	0.67577	1.226000	0.43582	0.591000	0.81541	CGA		0.353	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	broad.mit.edu	37	5	145883531	145883531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145883531G>T	ENST00000296702.5	+	18	2730	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Nonsense_Mutation_p.E877*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	898	FF 4.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.E898*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACGAGAAGAAGCTATCCA	0.378																																					p.E877X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2629T	5						.						102.0	104.0	103.0					5																	145883531		2203	4300	6503	145863724	SO:0001587	stop_gained	10915	exon17			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2692G>T	5.37:g.145883531G>T	ENSP00000296702:p.Glu898*		145863724	NM_001040006	Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	41	8.871294	0.98984	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.6489	19.9855	0.97347	0.0:0.0:1.0:0.0	.	.	.	.	X	898;877	.	ENSP00000296702:E898X	E	+	1	0	TCERG1	145863724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.806000	0.96561	0.655000	0.94253	GAA		0.378	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
TCERG1	10915	broad.mit.edu	37	5	145890075	145890075	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:145890075G>A	ENST00000296702.5	+	22	3205	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	TCERG1_ENST00000394421.2_Missense_Mutation_p.R1035Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1056	FF 6.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.R1056Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGACAAACGGTATCTAGTA	0.428																																					p.R1035Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3104A	5						.						96.0	94.0	95.0					5																	145890075		2203	4300	6503	145870268	SO:0001583	missense	10915	exon21			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.3167G>A	5.37:g.145890075G>A	ENSP00000296702:p.Arg1056Gln		145870268	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449778	0.84101	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.56611	0.45;0.45	6.16	6.16	0.99307	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.992	T	0.74867	-0.3518	10	0.51188	T	0.08	-7.2318	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1035;1056	O14776-2;O14776	.;TCRG1_HUMAN	Q	1056;1035	ENSP00000296702:R1056Q;ENSP00000377943:R1035Q	ENSP00000296702:R1056Q	R	+	2	0	TCERG1	145870268	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.804000	0.99143	2.937000	0.99478	0.650000	0.86243	CGG		0.428	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
STK32A	202374	broad.mit.edu	37	5	146658905	146658905	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:146658905C>A	ENST00000397936.3	+	4	537	c.204C>A	c.(202-204)gtC>gtA	p.V68V	STK32A_ENST00000541094.1_Silent_p.V68V|STK32A_ENST00000398523.3_Silent_p.V68V|STK32A_ENST00000398521.3_Silent_p.V68V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V68V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAAATGTCTTCAAGGAAC	0.413																																					p.V68V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C204A	5						.						87.0	92.0	91.0					5																	146658905		1938	4163	6101	146639098	SO:0001819	synonymous_variant	202374	exon4				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.204C>A	5.37:g.146658905C>A			146639098	NM_001112724	B3KSY0	Silent	SNP	ENST00000397936.3	37	CCDS47299.1																																																																																				0.413	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001	
DPYSL3	1809	broad.mit.edu	37	5	146795309	146795309	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:146795309G>A	ENST00000398514.3	-	4	812	c.441C>T	c.(439-441)agC>agT	p.S147S	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.S261S	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	147					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.S147S(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTTGACGCTGTCATTCC	0.547																																					p.S147S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C441T	5						.						252.0	261.0	258.0					5																	146795309		2129	4241	6370	146775502	SO:0001819	synonymous_variant	1809	exon4			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.441C>T	5.37:g.146795309G>A			146775502	NM_001387	B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	CCDS43381.1																																																																																				0.547	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387	
JAKMIP2	9832	broad.mit.edu	37	5	147015807	147015807	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147015807C>A	ENST00000265272.5	-	12	2122	c.1655G>T	c.(1654-1656)aGa>aTa	p.R552I	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R510I|JAKMIP2_ENST00000507386.1_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	552						Golgi apparatus (GO:0005794)		p.R552I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGTTTCTCTTAATGAA	0.473																																					p.R552I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655T	5						.						108.0	94.0	99.0					5																	147015807		2203	4300	6503	146996000	SO:0001583	missense	9832	exon12			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1655G>T	5.37:g.147015807C>A	ENSP00000265272:p.Arg552Ile		146996000	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065853	0.76187	.	.	ENSG00000176049	ENST00000265272;ENST00000333010	T;T	0.25414	1.81;1.8	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.52759	1.655	0.80722	D	1	P;P;P	0.43701	0.815;0.815;0.815	B;B;B	0.39258	0.295;0.295;0.295	T	0.01235	-1.1410	10	0.37606	T	0.19	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	510;552;552	B4DSG0;Q96AA8-3;Q96AA8	.;.;JKIP2_HUMAN	I	552;510	ENSP00000265272:R552I;ENSP00000328989:R510I	ENSP00000265272:R552I	R	-	2	0	JAKMIP2	146996000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.873000	0.98535	0.563000	0.77884	AGA		0.473	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
JAKMIP2	9832	broad.mit.edu	37	5	147040808	147040808	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147040808C>A	ENST00000265272.5	-	3	797	c.330G>T	c.(328-330)gaG>gaT	p.E110D	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E68D|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E110D	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	110						Golgi apparatus (GO:0005794)		p.E110D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCTGGATCTCTCCATCAC	0.567																																					p.E110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	5						.						175.0	166.0	169.0					5																	147040808		2203	4300	6503	147021001	SO:0001583	missense	9832	exon3			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.330G>T	5.37:g.147040808C>A	ENSP00000265272:p.Glu110Asp		147021001	NM_014790	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344186	0.61073	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.09255	3.0;3.0;3.0	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	M	0.63843	1.955	0.58432	D	0.999996	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.00215	-1.1911	10	0.37606	T	0.19	.	9.8813	0.41236	0.0:0.8683:0.0:0.1317	.	68;110;110;110	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	D	110;110;68;110	ENSP00000421398:E110D;ENSP00000265272:E110D;ENSP00000328989:E68D	ENSP00000265272:E110D	E	-	3	2	JAKMIP2	147021001	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	3.160000	0.50739	2.529000	0.85273	0.563000	0.77884	GAG		0.567	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790	
SPINK5	11005	broad.mit.edu	37	5	147480973	147480973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147480973C>T	ENST00000256084.7	+	14	1318	c.1276C>T	c.(1276-1278)Caa>Taa	p.Q426*	SPINK5_ENST00000398454.1_Nonsense_Mutation_p.Q426*|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Nonsense_Mutation_p.Q426*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	426					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q426*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAAAAGACAATCTAAGAG	0.388																																					p.Q426X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1276T	5						.						137.0	120.0	125.0					5																	147480973		1857	4106	5963	147461166	SO:0001587	stop_gained	11005	exon14			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1276C>T	5.37:g.147480973C>T	ENSP00000256084:p.Gln426*		147461166	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834290	0.32421	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	.	.	.	3.72	2.86	0.33363	.	0.834828	0.10258	N	0.696336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-14.1334	12.0995	0.53774	0.0:0.8239:0.1761:0.0	.	.	.	.	X	426;426;407;426	.	ENSP00000256084:Q426X	Q	+	1	0	SPINK5	147461166	0.480000	0.25933	0.975000	0.42487	0.160000	0.22226	-0.099000	0.11007	0.553000	0.29044	-0.810000	0.03169	CAA		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
ANKH	56172	broad.mit.edu	37	5	14713763	14713763	+	Silent	SNP	C	C	T	rs146419748	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:14713763C>T	ENST00000284268.6	-	10	1485	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A	ANKH_ENST00000535119.1_Silent_p.A187A	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	385					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.A385A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGTGAGATGCGCCCTCACTG	0.617													C|||	2	0.000399361	0.0	0.0014	5008	,	,		18453	0.0		0.001	False		,,,				2504	0.0				p.A385A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1155A	5						.						149.0	114.0	126.0					5																	14713763		2203	4300	6503	14766763	SO:0001819	synonymous_variant	56172	exon10			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1155G>A	5.37:g.14713763C>T			14766763	NM_054027	B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Silent	SNP	ENST00000284268.6	37	CCDS3885.1																																																																																				0.617	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	
SPINK5	11005	broad.mit.edu	37	5	147505098	147505098	+	Intron	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147505098A>T	ENST00000256084.7	+	29	2781				SPINK5_ENST00000359874.3_Missense_Mutation_p.R917S	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5						anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R917S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGCAGACAGGTTCAGA	0.463																																					p.R917S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2751T	5						.						69.0	58.0	62.0					5																	147505098		1568	3582	5150	147485291	SO:0001627	intron_variant	11005	exon29			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2740-188A>T	5.37:g.147505098A>T			147485291	NM_001127698	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	A	3.952	-0.012151	0.07727	.	.	ENSG00000133710	ENST00000359874	T	0.39997	1.05	4.44	1.86	0.25419	.	2.473690	0.01264	N	0.009276	T	0.24198	0.0586	.	.	.	0.58432	D	0.999994	B	0.17465	0.022	B	0.16289	0.015	T	0.38585	-0.9654	9	0.08599	T	0.76	-0.4245	5.3021	0.15783	0.7133:0.0:0.2867:0.0	.	917	Q9NQ38-3	.	S	917	ENSP00000352936:R917S	ENSP00000352936:R917S	R	+	3	2	SPINK5	147485291	0.105000	0.21958	0.843000	0.33291	0.415000	0.31203	0.230000	0.17852	0.384000	0.24942	0.533000	0.62120	AGA		0.463	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
HTR4	3360	broad.mit.edu	37	5	147889584	147889584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147889584C>A	ENST00000377888.3	-	6	649	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	HTR4_ENST00000314512.6_Nonsense_Mutation_p.E171*|HTR4_ENST00000362016.2_Nonsense_Mutation_p.E185*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.E171*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.E171*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.E171*|HTR4_ENST00000360693.3_Nonsense_Mutation_p.E171*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.E171*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.E171*	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	171					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.E171*(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	TTCCTCTTTTCTATCTGAGAG	0.448																																					p.E171X	GBM(120;370 1604 14007 17804 41573)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G511T	5						.						59.0	58.0	58.0					5																	147889584		2203	4299	6502	147869777	SO:0001587	stop_gained	3360	exon6			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.511G>T	5.37:g.147889584C>A	ENSP00000367120:p.Glu171*		147869777	NM_000870	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Nonsense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191306	0.78902	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	.	.	.	5.65	5.65	0.86999	.	0.090660	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	14.7812	0.69769	0.0:0.855:0.145:0.0	.	.	.	.	X	171;171;171;171;171;171;171;171;185	.	ENSP00000314906:E171X	E	-	1	0	HTR4	147869777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.966000	0.56795	2.681000	0.91329	0.563000	0.77884	GAA		0.448	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870	
SH3TC2	79628	broad.mit.edu	37	5	148407348	148407348	+	Silent	SNP	G	G	A	rs576049662		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:148407348G>A	ENST00000515425.1	-	11	2048	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	SH3TC2_ENST00000394358.2_Silent_p.H534H|SH3TC2_ENST00000538184.1_Silent_p.H196H|SH3TC2_ENST00000512049.1_Silent_p.H642H|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.H649H(1)|p.H534H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCTCCTCGTGCCGGCCTA	0.637													g|||	1	0.000199681	0.0	0.0	5008	,	,		17842	0.0		0.001	False		,,,				2504	0.0				p.H649H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1947T	5						.						35.0	41.0	39.0					5																	148407348		2203	4300	6503	148387541	SO:0001819	synonymous_variant	79628	exon11			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1947C>T	5.37:g.148407348G>A			148387541	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																				0.637	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
AFAP1L1	134265	broad.mit.edu	37	5	148719587	148719587	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:148719587G>T	ENST00000296721.4	+	19	2399	c.2301G>T	c.(2299-2301)aaG>aaT	p.K767N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K724N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	767						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K767N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGAAGAAGACCTAGGAAG	0.413																																					p.K767N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2301T	5						.						112.0	102.0	105.0					5																	148719587		2203	4300	6503	148699780	SO:0001583	missense	134265	exon19			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2301G>T	5.37:g.148719587G>T	ENSP00000296721:p.Lys767Asn		148699780	NM_152406	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411067	0.42817	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.15372	2.43;2.51	5.93	3.17	0.36434	.	0.182235	0.47852	D	0.000209	T	0.14485	0.0350	N	0.20881	0.62	0.23838	N	0.996701	D;B	0.56746	0.977;0.068	P;B	0.53593	0.73;0.022	T	0.07520	-1.0768	10	0.07644	T	0.81	-33.3217	9.0311	0.36260	0.2693:0.0:0.7307:0.0	.	724;767	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	767;724	ENSP00000296721:K767N;ENSP00000424427:K724N	ENSP00000296721:K767N	K	+	3	2	AFAP1L1	148699780	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.912000	0.39946	1.524000	0.49035	0.561000	0.74099	AAG		0.413	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
SLC26A2	1836	broad.mit.edu	37	5	149357695	149357695	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149357695C>A	ENST00000286298.4	+	2	748	c.480C>A	c.(478-480)atC>atA	p.I160I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	160					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.I160I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCGTCACATCTCTGTGGGCA	0.463																																					p.I160I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480A	5						.						156.0	145.0	149.0					5																	149357695		2203	4300	6503	149337888	SO:0001819	synonymous_variant	1836	exon2			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.480C>A	5.37:g.149357695C>A			149337888	NM_000112	A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	CCDS4300.1																																																																																				0.463	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
TIGD6	81789	broad.mit.edu	37	5	149375858	149375858	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149375858C>A	ENST00000296736.3	-	2	828	c.54G>T	c.(52-54)atG>atT	p.M18I	TIGD6_ENST00000515406.2_Missense_Mutation_p.M18I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	18	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M18I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCACAACTTTCATTTTCTCCT	0.473																																					p.M18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54T	5						.						73.0	81.0	78.0					5																	149375858		2203	4300	6503	149356051	SO:0001583	missense	81789	exon2			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.54G>T	5.37:g.149375858C>A	ENSP00000296736:p.Met18Ile		149356051	NM_030953	B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.822926	0.00589	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.39592	1.07;1.07	4.66	2.85	0.33270	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.170937	0.27710	N	0.018176	T	0.12008	0.0292	N	0.01267	-0.92	0.21147	N	0.999771	B	0.15930	0.015	B	0.15870	0.014	T	0.21586	-1.0241	10	0.13108	T	0.6	.	3.3188	0.07043	0.1794:0.5524:0.1738:0.0944	.	18	Q17RP2	TIGD6_HUMAN	I	18	ENSP00000296736:M18I;ENSP00000425318:M18I	ENSP00000296736:M18I	M	-	3	0	TIGD6	149356051	0.600000	0.26899	0.999000	0.59377	0.414000	0.31173	0.071000	0.14594	0.688000	0.31529	-0.315000	0.08773	ATG		0.473	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953	
PDGFRB	5159	broad.mit.edu	37	5	149515193	149515193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149515193C>A	ENST00000261799.4	-	3	758	c.289G>T	c.(289-291)Gaa>Taa	p.E97*		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	97	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.E97*(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAAGTATTCTCCCGTGTCT	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.E97X			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G289T	5						.						130.0	125.0	127.0					5																	149515193		2203	4300	6503	149495386	SO:0001587	stop_gained	5159	exon3			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.289G>T	5.37:g.149515193C>A	ENSP00000261799:p.Glu97*		149495386	NM_002609	B5A957|Q8N5L4	Nonsense_Mutation	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	39	7.460644	0.98299	.	.	ENSG00000113721	ENST00000261799;ENST00000517488;ENST00000517957	.	.	.	5.42	5.42	0.78866	.	0.102890	0.42548	D	0.000686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	13.8972	0.63781	0.0:0.8477:0.1523:0.0	.	.	.	.	X	97;33;97	.	ENSP00000261799:E97X	E	-	1	0	PDGFRB	149495386	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.668000	0.54554	2.539000	0.85634	0.561000	0.74099	GAA		0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
ARSI	340075	broad.mit.edu	37	5	149677480	149677480	+	Missense_Mutation	SNP	C	C	T	rs143451969	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149677480C>T	ENST00000328668.7	-	2	1586	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	336					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R336Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGTTGCTTTCGCTTGAGCAG	0.627													C|||	9	0.00179712	0.0068	0.0	5008	,	,		20486	0.0		0.0	False		,,,				2504	0.0				p.R336Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1007A	5						.	C	GLN/ARG	29,4377	31.7+/-61.6	0,29,2174	40.0	40.0	40.0		1007	3.6	1.0	5	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ARSI	NM_001012301.2	43	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	possibly-damaging	336/570	149677480	30,12976	2203	4300	6503	149657673	SO:0001583	missense	340075	exon2			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1007G>A	5.37:g.149677480C>T	ENSP00000333395:p.Arg336Gln		149657673	NM_001012301	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.022	0.189718	0.09547	0.006582	1.16E-4	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96365	-3.99;-3.99	4.46	3.58	0.41010	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.315498	0.31589	N	0.007382	D	0.87196	0.6117	L	0.31207	0.915	0.30918	N	0.728352	P	0.40875	0.731	B	0.36808	0.233	D	0.84888	0.0835	10	0.13470	T	0.59	.	7.2893	0.26356	0.0:0.7275:0.0:0.2725	.	336	Q5FYB1	ARSI_HUMAN	Q	336;193	ENSP00000333395:R336Q;ENSP00000426879:R193Q	ENSP00000333395:R336Q	R	-	2	0	ARSI	149657673	0.720000	0.27996	0.986000	0.45419	0.991000	0.79684	1.391000	0.34475	1.190000	0.43042	0.561000	0.74099	CGA		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	
TCOF1	6949	broad.mit.edu	37	5	149767492	149767492	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149767492G>A	ENST00000504761.2	+	18	2887	c.2887G>A	c.(2887-2889)Gac>Aac	p.D963N	TCOF1_ENST00000377797.3_Missense_Mutation_p.D963N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1000N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D886N|TCOF1_ENST00000439160.2_Missense_Mutation_p.D963N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D886N|TCOF1_ENST00000451292.1_Missense_Mutation_p.D1000N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	963					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.D886N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTTTTGTCGACCCTAATCG	0.562																																					p.D963N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2887A	5						.						44.0	52.0	49.0					5																	149767492		2203	4300	6503	149747685	SO:0001583	missense	6949	exon18				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2887G>A	5.37:g.149767492G>A	ENSP00000421655:p.Asp963Asn		149747685	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965074	0.34659	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.77098	-1.07;-0.97;-0.96;-0.91;0.06;-0.92;-0.96;-0.92	5.8	4.0	0.46444	.	0.141481	0.33040	N	0.005349	T	0.55353	0.1915	N	0.25647	0.755	0.23984	N	0.99627	P;P;P;P;P;P	0.51351	0.792;0.944;0.944;0.944;0.907;0.944	B;B;B;B;B;B	0.34180	0.115;0.177;0.177;0.177;0.086;0.177	T	0.49744	-0.8907	10	0.12430	T	0.62	-13.3975	8.3713	0.32417	0.1821:0.0:0.8179:0.0	.	472;963;886;963;963;886	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;.;TCOF_HUMAN;.	N	1000;963;886;886;963;963;963;1000	ENSP00000400939:D1000N;ENSP00000367028:D963N;ENSP00000409944:D886N;ENSP00000325223:D886N;ENSP00000406888:D963N;ENSP00000390717:D963N;ENSP00000421655:D963N;ENSP00000427484:D1000N	ENSP00000325223:D886N	D	+	1	0	TCOF1	149747685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.886000	0.48578	0.775000	0.33450	0.655000	0.94253	GAC		0.562	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	
TCOF1	6949	broad.mit.edu	37	5	149772950	149772950	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149772950T>G	ENST00000504761.2	+	23	3616	c.3616T>G	c.(3616-3618)Tat>Gat	p.Y1206D	TCOF1_ENST00000377797.3_Missense_Mutation_p.Y1207D|TCOF1_ENST00000513346.1_Missense_Mutation_p.Y1206D|TCOF1_ENST00000445265.2_Missense_Mutation_p.Y1130D|TCOF1_ENST00000439160.2_Missense_Mutation_p.Y1169D|TCOF1_ENST00000323668.7_Missense_Mutation_p.Y1129D|TCOF1_ENST00000451292.1_Missense_Mutation_p.Y1243D			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1206					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.Y1129D(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTCAGGTTATATGACCCC	0.567																																					p.Y1206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3616G	5						.						74.0	70.0	72.0					5																	149772950		2203	4300	6503	149753143	SO:0001583	missense	6949	exon23				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3616T>G	5.37:g.149772950T>G	ENSP00000421655:p.Tyr1206Asp		149753143	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.091583	0.55968	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.64	3.48	0.39840	.	0.418931	0.17841	N	0.160219	T	0.64768	0.2628	L	0.32530	0.975	0.25613	N	0.986482	P;P;P;D;P	0.65815	0.95;0.95;0.95;0.995;0.95	P;P;P;P;P	0.56278	0.776;0.776;0.776;0.795;0.776	T	0.55328	-0.8158	10	0.66056	D	0.02	0.5076	6.9228	0.24397	0.0:0.1035:0.0:0.8965	.	1169;1129;1168;1206;1130	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	D	1243;1207;1130;1129;1169;1168;1206;1206	ENSP00000400939:Y1243D;ENSP00000367028:Y1207D;ENSP00000409944:Y1130D;ENSP00000325223:Y1129D;ENSP00000406888:Y1169D;ENSP00000390717:Y1168D;ENSP00000421655:Y1206D;ENSP00000427484:Y1206D	ENSP00000325223:Y1129D	Y	+	1	0	TCOF1	149753143	0.967000	0.33354	0.995000	0.50966	0.989000	0.77384	1.063000	0.30567	0.925000	0.37094	0.459000	0.35465	TAT		0.567	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	
TCOF1	6949	broad.mit.edu	37	5	149776283	149776283	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:149776283C>T	ENST00000504761.2	+	24	4220	c.4220C>T	c.(4219-4221)tCt>tTt	p.S1407F	TCOF1_ENST00000377797.3_Missense_Mutation_p.S1408F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1407F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1331F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1370F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S1330F|TCOF1_ENST00000451292.1_Missense_Mutation_p.S1444F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1407					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.S1330F(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGGGGTCTCTTGGCTCC	0.537																																					p.S1407F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4220T	5						.						24.0	21.0	22.0					5																	149776283		2203	4300	6503	149756476	SO:0001583	missense	6949	exon24				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4220C>T	5.37:g.149776283C>T	ENSP00000421655:p.Ser1407Phe		149756476	NM_001135243	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821156	0.32237	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76709	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.03;-1.04	4.42	3.52	0.40303	.	0.404294	0.18486	N	0.139793	T	0.78898	0.4356	L	0.56769	1.78	0.09310	N	1	P;P;P;P;P	0.47350	0.891;0.891;0.891;0.894;0.891	P;P;P;B;P	0.51355	0.667;0.667;0.667;0.365;0.667	T	0.70454	-0.4867	10	0.72032	D	0.01	-0.0629	8.8296	0.35076	0.0:0.8877:0.0:0.1123	.	1370;1330;1369;1407;1331	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	F	1444;1408;1331;1330;1370;1369;1407;1407	ENSP00000400939:S1444F;ENSP00000367028:S1408F;ENSP00000409944:S1331F;ENSP00000325223:S1330F;ENSP00000406888:S1370F;ENSP00000390717:S1369F;ENSP00000421655:S1407F;ENSP00000427484:S1407F	ENSP00000325223:S1330F	S	+	2	0	TCOF1	149756476	0.000000	0.05858	0.245000	0.24217	0.221000	0.24807	0.364000	0.20325	2.160000	0.67779	0.561000	0.74099	TCT		0.537	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656	
RBM22	55696	broad.mit.edu	37	5	150071375	150071375	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150071375G>T	ENST00000199814.4	-	11	1322	c.1201C>A	c.(1201-1203)Cac>Aac	p.H401N	RBM22_ENST00000540000.1_Missense_Mutation_p.H352N|RBM22_ENST00000447771.2_Missense_Mutation_p.H352N	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	401	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.H401N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGATAGTGGATTGGTCCT	0.552																																					p.H401N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201A	5						.						113.0	109.0	110.0					5																	150071375		2203	4300	6503	150051568	SO:0001583	missense	55696	exon11			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1201C>A	5.37:g.150071375G>T	ENSP00000199814:p.His401Asn		150051568	NM_018047	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019446	0.75275	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	4.82	0.62117	.	0.044666	0.85682	D	0.000000	T	0.72914	0.3520	L	0.57536	1.79	0.58432	D	0.999998	P	0.39094	0.659	P	0.55391	0.775	T	0.71961	-0.4434	9	0.40728	T	0.16	-32.1025	14.6137	0.68534	0.0698:0.0:0.9302:0.0	.	401	Q9NW64	RBM22_HUMAN	N	401;352;352	.	ENSP00000199814:H401N	H	-	1	0	RBM22	150051568	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	1.431000	0.47355	-0.136000	0.14681	CAC		0.552	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047	
ANXA6	309	broad.mit.edu	37	5	150484829	150484829	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150484829C>T	ENST00000354546.5	-	24	2043	c.1816G>A	c.(1816-1818)Gac>Aac	p.D606N	ANXA6_ENST00000521512.1_Missense_Mutation_p.D393N|ANXA6_ENST00000523714.1_Missense_Mutation_p.D574N|ANXA6_ENST00000356496.5_Missense_Mutation_p.D600N|ANXA6_ENST00000377751.5_Missense_Mutation_p.D263N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	606					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.D606N(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGTTTGTCGGCAAAGAAG	0.478																																					p.D606N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1816A	5						.						166.0	157.0	160.0					5																	150484829		1958	4158	6116	150465022	SO:0001583	missense	309	exon24			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1816G>A	5.37:g.150484829C>T	ENSP00000346550:p.Asp606Asn		150465022	NM_001155	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	CCDS47315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.962457|4.962457	0.92791|0.92791	.|.	.|.	ENSG00000197043|ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153|ENST00000522664	T;T;T;T;T|.	0.03330|.	3.97;3.97;3.97;3.97;3.97|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.056107|.	0.64402|.	D|.	0.000002|.	T|T	0.51176|0.51176	0.1659|0.1659	N|N	0.20445|0.20445	0.575|0.575	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.997;0.998;0.997|.	D;P;D|.	0.64877|.	0.921;0.899;0.93|.	T|T	0.47209|0.47209	-0.9135|-0.9135	10|5	0.87932|.	D|.	0|.	.|.	15.9723|15.9723	0.80031|0.80031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	393;600;606|.	E5RK69;A6NN80;P08133|.	.;.;ANXA6_HUMAN|.	N|Q	606;574;263;600;393;480|2	ENSP00000346550:D606N;ENSP00000430517:D574N;ENSP00000366980:D263N;ENSP00000348889:D600N;ENSP00000430420:D393N|.	ENSP00000346550:D606N|.	D|R	-|-	1|2	0|0	ANXA6|ANXA6	150465022|150465022	0.994000|0.994000	0.37717|0.37717	0.964000|0.964000	0.40570|0.40570	0.954000|0.954000	0.61252|0.61252	3.235000|3.235000	0.51328|0.51328	2.371000|2.371000	0.80710|0.80710	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.478	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155	
CCDC69	26112	broad.mit.edu	37	5	150578618	150578618	+	Nonsense_Mutation	SNP	G	G	A	rs114476897		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150578618G>A	ENST00000355417.2	-	4	433	c.259C>T	c.(259-261)Cga>Tga	p.R87*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	87								p.R87*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCTGTCTCGAAGCTCTAGC	0.572																																					p.R87X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C259T	5						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	232.0	203.0	213.0		259	3.1	0.1	5	dbSNP_132	213	0,8600		0,0,4300	no	stop-gained	CCDC69	NM_015621.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		87/297	150578618	1,13005	2203	4300	6503	150558811	SO:0001587	stop_gained	26112	exon4				CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.259C>T	5.37:g.150578618G>A	ENSP00000347586:p.Arg87*		150558811	NM_015621	A8K9X6	Nonsense_Mutation	SNP	ENST00000355417.2	37	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419406	0.62622	2.27E-4	0.0	ENSG00000198624	ENST00000355417	.	.	.	4.94	3.1	0.35709	.	1.691730	0.03180	N	0.171883	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.7704	6.9132	0.24346	0.0976:0.188:0.7143:0.0	.	.	.	.	X	87	.	ENSP00000347586:R87X	R	-	1	2	CCDC69	150558811	0.110000	0.22057	0.072000	0.20136	0.360000	0.29518	0.644000	0.24766	1.282000	0.44496	0.491000	0.48974	CGA		0.572	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621	
FAT2	2196	broad.mit.edu	37	5	150885420	150885420	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150885420C>T	ENST00000261800.5	-	23	12768	c.12756G>A	c.(12754-12756)atG>atA	p.M4252I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4252					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M4252I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGAGAGGGCATCAGATCTT	0.622																																					p.M4252I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G12756A	5						.						88.0	103.0	98.0					5																	150885420		2203	4300	6503	150865613	SO:0001583	missense	2196	exon23			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12756G>A	5.37:g.150885420C>T	ENSP00000261800:p.Met4252Ile		150865613	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.02|12.02	1.811959|1.811959	0.32053|0.32053	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.69435	.|-0.4	5.02|5.02	3.2|3.2	0.36748|0.36748	.|.	.|0.643258	.|0.15207	.|N	.|0.274695	T|T	0.32941|0.32941	0.0846|0.0846	N|N	0.00926|0.00926	-1.1|-1.1	0.28450|0.28450	N|N	0.916365|0.916365	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.22941|0.22941	-1.0202|-1.0202	5|10	.|0.25751	.|T	.|0.34	.|.	7.4501|7.4501	0.27234|0.27234	0.0:0.587:0.266:0.147|0.0:0.587:0.266:0.147	.|.	.|4252;1357	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	T|I	1025|4252	.|ENSP00000261800:M4252I	.|ENSP00000261800:M4252I	A|M	-|-	1|3	0|0	FAT2|FAT2	150865613|150865613	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.956000|0.956000	0.61745|0.61745	1.351000|1.351000	0.34022|0.34022	0.488000|0.488000	0.27723|0.27723	0.561000|0.561000	0.74099|0.74099	GCC|ATG		0.622	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150911476	150911476	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150911476G>T	ENST00000261800.5	-	13	9495	c.9483C>A	c.(9481-9483)tcC>tcA	p.S3161S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3161	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S3161S(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCGTCGATGGAAAAGTGGC	0.652																																					p.S3161S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9483A	5						.						57.0	62.0	60.0					5																	150911476		2202	4298	6500	150891669	SO:0001819	synonymous_variant	2196	exon13			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9483C>A	5.37:g.150911476G>T			150891669	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102503	0.20632	.	.	ENSG00000086570	ENST00000520200	.	.	.	5.25	4.38	0.52667	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55903	-0.8067	4	.	.	.	.	8.1055	0.30883	0.0778:0.0:0.6616:0.2606	.	.	.	.	N	20	.	.	H	-	1	0	FAT2	150891669	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.865000	0.27940	1.222000	0.43521	0.557000	0.71058	CAT		0.652	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150921996	150921996	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150921996C>A	ENST00000261800.5	-	9	8704	c.8692G>T	c.(8692-8694)Gat>Tat	p.D2898Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2898	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D2898Y(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTCTCATCTGTAATGGAG	0.512																																					p.D2898Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8692T	5						.						193.0	185.0	188.0					5																	150921996		2203	4300	6503	150902189	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8692G>T	5.37:g.150921996C>A	ENSP00000261800:p.Asp2898Tyr		150902189	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909246	0.72868	.	.	ENSG00000086570	ENST00000261800	T	0.69175	-0.38	6.05	6.05	0.98169	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.90638	0.7064	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93686	0.7003	10	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	2898	Q9NYQ8	FAT2_HUMAN	Y	2898	ENSP00000261800:D2898Y	ENSP00000261800:D2898Y	D	-	1	0	FAT2	150902189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.755000	0.85180	2.878000	0.98634	0.650000	0.86243	GAT		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150923293	150923293	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150923293C>A	ENST00000261800.5	-	9	7407	c.7395G>T	c.(7393-7395)gtG>gtT	p.V2465V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2465	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2465V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTACACAGGCACAGTTGCTC	0.448																																					p.V2465V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7395T	5						.						88.0	85.0	86.0					5																	150923293		2203	4300	6503	150903486	SO:0001819	synonymous_variant	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7395G>T	5.37:g.150923293C>A			150903486	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.448	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150923407	150923407	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150923407G>T	ENST00000261800.5	-	9	7293	c.7281C>A	c.(7279-7281)ttC>ttA	p.F2427L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2427	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F2427L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTAATGAAGAAGTGCCTGT	0.468																																					p.F2427L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7281A	5						.						54.0	51.0	52.0					5																	150923407		2203	4300	6503	150903600	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7281C>A	5.37:g.150923407G>T	ENSP00000261800:p.Phe2427Leu		150903600	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059736	0.55325	.	.	ENSG00000086570	ENST00000261800	T	0.70749	-0.51	5.58	3.43	0.39272	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.85952	0.5817	M	0.93016	3.37	0.49798	D	0.999827	D	0.76494	0.999	D	0.85130	0.997	D	0.87891	0.2684	10	0.62326	D	0.03	.	11.1948	0.48707	0.274:0.0:0.726:0.0	.	2427	Q9NYQ8	FAT2_HUMAN	L	2427	ENSP00000261800:F2427L	ENSP00000261800:F2427L	F	-	3	2	FAT2	150903600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.341000	0.52151	1.322000	0.45245	0.561000	0.74099	TTC		0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150923556	150923556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150923556C>A	ENST00000261800.5	-	9	7144	c.7132G>T	c.(7132-7134)Gag>Tag	p.E2378*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2378	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2378*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCTGAACTCTGGGGGGTTG	0.483																																					p.E2378X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7132T	5						.						79.0	76.0	77.0					5																	150923556		2203	4300	6503	150903749	SO:0001587	stop_gained	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7132G>T	5.37:g.150923556C>A	ENSP00000261800:p.Glu2378*		150903749	NM_001447	O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	47	13.395765	0.99739	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.58	4.71	0.59529	.	0.198177	0.35495	N	0.003164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	11.9164	0.52767	0.0:0.8578:0.0:0.1422	.	.	.	.	X	2378	.	ENSP00000261800:E2378X	E	-	1	0	FAT2	150903749	0.978000	0.34361	0.997000	0.53966	0.802000	0.45316	2.615000	0.46368	1.325000	0.45301	0.561000	0.74099	GAG		0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150924390	150924390	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150924390C>T	ENST00000261800.5	-	9	6310	c.6298G>A	c.(6298-6300)Ggg>Agg	p.G2100R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2100	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2100R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTTGTCCCCAAGTCCTCA	0.443																																					p.G2100R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6298A	5						.						122.0	127.0	125.0					5																	150924390		2203	4300	6503	150904583	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6298G>A	5.37:g.150924390C>T	ENSP00000261800:p.Gly2100Arg		150904583	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351135	0.82132	.	.	ENSG00000086570	ENST00000261800	T	0.66280	-0.2	5.63	5.63	0.86233	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.84763	0.5544	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.87793	0.2620	10	0.72032	D	0.01	.	19.6811	0.95964	0.0:1.0:0.0:0.0	.	2100	Q9NYQ8	FAT2_HUMAN	R	2100	ENSP00000261800:G2100R	ENSP00000261800:G2100R	G	-	1	0	FAT2	150904583	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.747000	0.85070	2.658000	0.90341	0.561000	0.74099	GGG		0.443	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150934142	150934142	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150934142G>T	ENST00000261800.5	-	4	3738	c.3726C>A	c.(3724-3726)ttC>ttA	p.F1242L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1242	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1242L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTGTGGGAGAATATAGGTG	0.567																																					p.F1242L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3726A	5						.						166.0	143.0	151.0					5																	150934142		2203	4300	6503	150914335	SO:0001583	missense	2196	exon4			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3726C>A	5.37:g.150934142G>T	ENSP00000261800:p.Phe1242Leu		150914335	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308248	0.40895	.	.	ENSG00000086570	ENST00000261800	T	0.78707	-1.2	5.46	2.72	0.32119	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.77837	0.4190	M	0.87269	2.87	0.51767	D	0.999939	P	0.38617	0.64	B	0.37015	0.239	T	0.75858	-0.3169	10	0.59425	D	0.04	.	8.995	0.36048	0.3577:0.0:0.6423:0.0	.	1242	Q9NYQ8	FAT2_HUMAN	L	1242	ENSP00000261800:F1242L	ENSP00000261800:F1242L	F	-	3	2	FAT2	150914335	1.000000	0.71417	0.991000	0.47740	0.423000	0.31445	2.570000	0.45981	0.365000	0.24400	0.655000	0.94253	TTC		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150945681	150945681	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150945681G>T	ENST00000261800.5	-	1	2824	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	938	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L938M(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGGGGGCAGGTCCTCTGGA	0.552																																					p.L938M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2812A	5						.						55.0	50.0	52.0					5																	150945681		2203	4300	6503	150925874	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2812C>A	5.37:g.150945681G>T	ENSP00000261800:p.Leu938Met		150925874	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483895	0.26598	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	5.51	-1.13	0.09775	Cadherin (3);Cadherin-like (1);	0.398345	0.21508	N	0.073407	T	0.36608	0.0973	L	0.47078	1.49	0.28931	N	0.891562	B	0.21606	0.058	B	0.35688	0.208	T	0.28681	-1.0036	10	0.34782	T	0.22	.	2.7304	0.05225	0.2636:0.1083:0.5111:0.117	.	938	Q9NYQ8	FAT2_HUMAN	M	938	ENSP00000261800:L938M	ENSP00000261800:L938M	L	-	1	2	FAT2	150925874	0.915000	0.31059	0.984000	0.44739	0.945000	0.59286	0.067000	0.14510	0.020000	0.15106	0.561000	0.74099	CTG		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150947935	150947935	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150947935G>T	ENST00000261800.5	-	1	570	c.558C>A	c.(556-558)gcC>gcA	p.A186A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A186A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTGTTAAAGGCATAATAGA	0.532																																					p.A186A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558A	5						.						126.0	115.0	119.0					5																	150947935		2203	4300	6503	150928128	SO:0001819	synonymous_variant	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.558C>A	5.37:g.150947935G>T			150928128	NM_001447	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150948381	150948381	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:150948381A>G	ENST00000261800.5	-	1	124	c.112T>C	c.(112-114)Tac>Cac	p.Y38H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y38H(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGCATTGTAATGGGAGTGT	0.507																																					p.Y38H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T112C	5						.						108.0	110.0	109.0					5																	150948381		2203	4300	6503	150928574	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.112T>C	5.37:g.150948381A>G	ENSP00000261800:p.Tyr38His		150928574	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102904	0.76983	.	.	ENSG00000086570	ENST00000261800	T	0.66638	-0.22	5.36	5.36	0.76844	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000014	D	0.86948	0.6056	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90631	0.4567	10	0.62326	D	0.03	.	15.3536	0.74409	1.0:0.0:0.0:0.0	.	38	Q9NYQ8	FAT2_HUMAN	H	38	ENSP00000261800:Y38H	ENSP00000261800:Y38H	Y	-	1	0	FAT2	150928574	1.000000	0.71417	0.871000	0.34182	0.982000	0.71751	9.262000	0.95591	2.023000	0.59567	0.459000	0.35465	TAC		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
SPARC	6678	broad.mit.edu	37	5	151051214	151051214	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:151051214C>T	ENST00000231061.4	-	5	563	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	84	Follistatin-like.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.E84K(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCATCCAGCTCGCACACCTTG	0.592																																					p.E84K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	5						.						177.0	136.0	150.0					5																	151051214		2203	4300	6503	151031407	SO:0001583	missense	6678	exon5				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.250G>A	5.37:g.151051214C>T	ENSP00000231061:p.Glu84Lys		151031407	NM_003118	D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287798	0.95517	.	.	ENSG00000113140	ENST00000231061;ENST00000539687	T;T	0.48201	0.82;0.82	5.39	5.39	0.77823	Follistatin-like, N-terminal (1);Osteonectin-like, conserved site (1);Follistatin/Osteonectin EGF domain (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.48174	1.505	0.80722	D	1	D	0.57257	0.979	P	0.57425	0.82	T	0.45833	-0.9234	10	0.06891	T	0.86	-29.0986	19.1452	0.93463	0.0:1.0:0.0:0.0	.	84	P09486	SPRC_HUMAN	K	84	ENSP00000231061:E84K;ENSP00000444998:E84K	ENSP00000231061:E84K	E	-	1	0	SPARC	151031407	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.276000	0.78559	2.517000	0.84864	0.561000	0.74099	GAG		0.592	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118	
LPCAT1	79888	broad.mit.edu	37	5	1463877	1463877	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:1463877G>A	ENST00000283415.3	-	14	1626	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	498					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.F498F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CACAGCTTTCGAAATGTGTCT	0.537																																					p.F498F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1494T	5						.						117.0	115.0	115.0					5																	1463877		2203	4300	6503	1516877	SO:0001819	synonymous_variant	79888	exon14			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1494C>T	5.37:g.1463877G>A			1516877	NM_024830	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	CCDS3864.1																																																																																				0.537	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	
G3BP1	10146	broad.mit.edu	37	5	151179526	151179526	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:151179526G>A	ENST00000394123.3	+	9	1065	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	G3BP1_ENST00000543466.1_Missense_Mutation_p.R125Q|G3BP1_ENST00000356245.3_Missense_Mutation_p.R307Q			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	307					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.R307Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CGAGAACAACGAATAAATATT	0.463																																					p.R307Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G920A	5						.						38.0	40.0	39.0					5																	151179526		2203	4300	6503	151159719	SO:0001583	missense	10146	exon9			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.920G>A	5.37:g.151179526G>A	ENSP00000377681:p.Arg307Gln		151159719	NM_005754	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390704	0.62066	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.73681	-0.66;-0.77;-0.66	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.80183	2.485	0.58432	D	0.999999	P	0.37997	0.614	B	0.24394	0.053	T	0.72424	-0.4298	10	0.13108	T	0.6	-18.7807	18.4052	0.90533	0.0:0.0:1.0:0.0	.	307	Q13283	G3BP1_HUMAN	Q	307;125;307;149	ENSP00000377681:R307Q;ENSP00000445035:R125Q;ENSP00000348578:R307Q	ENSP00000274596:R149Q	R	+	2	0	G3BP1	151159719	1.000000	0.71417	0.978000	0.43139	0.965000	0.64279	6.851000	0.75425	2.415000	0.81967	0.650000	0.86243	CGA		0.463	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	
NMUR2	56923	broad.mit.edu	37	5	151784024	151784024	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:151784024G>T	ENST00000255262.3	-	1	816	c.651C>A	c.(649-651)atC>atA	p.I217I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	217					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.I217I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGTGACCTGGATGATGAAAT	0.532																																					p.I217I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C651A	5						.						170.0	159.0	162.0					5																	151784024		2203	4300	6503	151764217	SO:0001819	synonymous_variant	56923	exon1			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.651C>A	5.37:g.151784024G>T			151764217	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	CCDS4321.1																																																																																				0.532	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
FAM114A2	10827	broad.mit.edu	37	5	153414408	153414408	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:153414408C>A	ENST00000351797.4	-	2	182	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C	FAM114A2_ENST00000522858.1_Missense_Mutation_p.G36C|FAM114A2_ENST00000520667.1_Missense_Mutation_p.G36C|FAM114A2_ENST00000520313.1_Splice_Site_p.G36C	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	36							purine nucleotide binding (GO:0017076)	p.G36C(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GGTTTGGCACCTTGGTCAACA	0.453																																					p.G36C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106T	5						.						175.0	178.0	177.0					5																	153414408		2203	4300	6503	153394601	SO:0001583	missense	10827	exon2			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.106G>T	5.37:g.153414408C>A	ENSP00000341597:p.Gly36Cys		153394601	NM_018691	B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006441	0.35415	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000520313;ENST00000522395;ENST00000523705;ENST00000519808;ENST00000518102;ENST00000522634;ENST00000517605	T;T;T;T;T;T;T	0.44083	2.53;2.53;2.53;1.0;1.53;1.52;0.93	5.79	-0.643	0.11482	.	0.440036	0.22011	N	0.065871	T	0.35998	0.0951	N	0.08118	0	0.21064	N	0.999799	D;B	0.89917	1.0;0.412	D;B	0.97110	1.0;0.161	T	0.21724	-1.0237	10	0.56958	D	0.05	-0.0029	6.5511	0.22433	0.0:0.35:0.1268:0.5232	.	36;36	E7ESJ7;Q9NRY5	.;F1142_HUMAN	C	36	ENSP00000341597:G36C;ENSP00000430489:G36C;ENSP00000430384:G36C;ENSP00000429088:G36C;ENSP00000430186:G36C;ENSP00000428827:G36C;ENSP00000429753:G36C	ENSP00000341597:G36C	G	-	1	0	FAM114A2	153394601	0.001000	0.12720	0.013000	0.15412	0.974000	0.67602	0.743000	0.26231	-0.099000	0.12263	-0.312000	0.09012	GGT;GGT;GGT;GGT;GGC;GGT;GGT;GGT;GGT;GGT;GGT		0.453	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691	
LARP1	23367	broad.mit.edu	37	5	154172313	154172313	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154172313G>A	ENST00000336314.4	+	4	489	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	232					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.K232K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGAGGAAAAGAATGGAGATG	0.498																																					p.K155K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G465A	5						.						138.0	136.0	136.0					5																	154172313		2203	4300	6503	154152506	SO:0001819	synonymous_variant	23367	exon4			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.465G>A	5.37:g.154172313G>A			154152506	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158952	0.21454	.	.	ENSG00000155506	ENST00000517616	.	.	.	5.93	5.06	0.68205	.	.	.	.	.	T	0.63803	0.2542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62525	-0.6836	4	.	.	.	-22.7624	11.8789	0.52562	0.1393:0.0:0.8607:0.0	.	.	.	.	K	135	.	.	E	+	1	0	LARP1	154152506	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.133000	0.42093	1.497000	0.48584	0.655000	0.94253	GAA		0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LARP1	23367	broad.mit.edu	37	5	154173443	154173443	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154173443G>A	ENST00000336314.4	+	6	745	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	318					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.D318N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCTGGCACGACCAGGATGA	0.692																																					p.D241N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G721A	5						.						65.0	78.0	73.0					5																	154173443		2203	4300	6503	154153636	SO:0001583	missense	23367	exon6			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.721G>A	5.37:g.154173443G>A	ENSP00000336721:p.Asp241Asn		154153636	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.321193|5.321193	0.95682|0.95682	.|.	.|.	ENSG00000155506|ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248|ENST00000518194	T;T;T|.	0.35973|.	1.73;1.28;1.29|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67562|0.67562	0.2906|0.2906	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	P;D|.	0.77004|.	0.715;0.989|.	T|T	0.61676|0.61676	-0.7014|-0.7014	10|5	0.23302|.	T|.	0.38|.	-24.3644|-24.3644	19.843|19.843	0.96697|0.96697	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	318;241|.	Q6PKG0;Q6PKG0-3|.	LARP1_HUMAN;.|.	N|Q	241;318;113|79	ENSP00000336721:D241N;ENSP00000428589:D318N;ENSP00000429904:D113N|.	ENSP00000336721:D241N|.	D|R	+|+	1|2	0|0	LARP1|LARP1	154153636|154153636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.670000|9.670000	0.98625|0.98625	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.692	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154179551G>T	ENST00000336314.4	+	10	1458	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	555	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582																																					p.E478D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1434T	5						.						64.0	60.0	61.0					5																	154179551		2203	4300	6503	154159744	SO:0001583	missense	23367	exon10			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1434G>T	5.37:g.154179551G>T	ENSP00000336721:p.Glu478Asp		154159744	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107363	0.37145	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.47177	1.83;1.37;1.41;0.87;0.85	5.96	0.822	0.18806	.	0.089357	0.85682	N	0.000000	T	0.31167	0.0788	L	0.44542	1.39	0.44611	D	0.997584	B;B	0.16603	0.014;0.018	B;B	0.19946	0.012;0.027	T	0.06899	-1.0801	10	0.30854	T	0.27	-25.6312	2.0054	0.03476	0.3466:0.1173:0.4156:0.1205	.	555;478	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	D	478;555;350;263;153	ENSP00000336721:E478D;ENSP00000428589:E555D;ENSP00000429904:E350D;ENSP00000430438:E263D;ENSP00000431072:E153D	ENSP00000336721:E478D	E	+	3	2	LARP1	154159744	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	0.606000	0.24194	0.102000	0.17638	0.655000	0.94253	GAG		0.582	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
FAXDC2	10826	broad.mit.edu	37	5	154210386	154210386	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154210386C>T	ENST00000326080.5	-	5	764	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	FAXDC2_ENST00000523997.1_5'UTR|MIR378H_ENST00000579966.1_RNA|FAXDC2_ENST00000517938.1_Missense_Mutation_p.R91Q|FAXDC2_ENST00000520968.1_Intron|FAXDC2_ENST00000518651.1_Missense_Mutation_p.R91Q	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	114					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.R114Q(2)									GACCTGAATTCGGTAGCGAGA	0.468																																					p.R114Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G341A	5						.						117.0	114.0	115.0					5																	154210386		1963	4152	6115	154190579	SO:0001583	missense	10826	exon5			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.341G>A	5.37:g.154210386C>T	ENSP00000320604:p.Arg114Gln		154190579	NM_032385	B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770349	0.90108	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501;ENST00000518651	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.80028	2.48	0.80722	D	1	P	0.38922	0.651	B	0.28232	0.087	T	0.65455	-0.6164	10	0.66056	D	0.02	.	18.2391	0.89960	0.0:1.0:0.0:0.0	.	114	Q96IV6	CE004_HUMAN	Q	114;91;91;91	ENSP00000320604:R114Q;ENSP00000430286:R91Q;ENSP00000429837:R91Q;ENSP00000429876:R91Q	ENSP00000320604:R114Q	R	-	2	0	C5orf4	154190579	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.048000	0.76606	2.405000	0.81733	0.655000	0.94253	CGA		0.468	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	
GEMIN5	25929	broad.mit.edu	37	5	154287187	154287187	+	Missense_Mutation	SNP	G	G	A	rs200476714		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154287187G>A	ENST00000285873.7	-	16	2434	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	787					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.R787W(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGGCTCCCGTGCTTGCTCC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		17400	0.001		0.0	False		,,,				2504	0.0				p.R787W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2359T	5						.						152.0	132.0	138.0					5																	154287187		2203	4300	6503	154267380	SO:0001583	missense	25929	exon16			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2359C>T	5.37:g.154287187G>A	ENSP00000285873:p.Arg787Trp		154267380	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.94	1.491680	0.26774	.	.	ENSG00000082516	ENST00000285873	T	0.70631	-0.5	5.33	3.37	0.38596	.	1.655010	0.02727	N	0.114597	T	0.66761	0.2822	L	0.36672	1.1	0.09310	N	1	D;D	0.56968	0.978;0.978	B;B	0.40410	0.328;0.328	T	0.63341	-0.6659	10	0.72032	D	0.01	-1.6832	14.1953	0.65667	0.0:0.2846:0.7154:0.0	.	786;787	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	W	787	ENSP00000285873:R787W	ENSP00000285873:R787W	R	-	1	2	GEMIN5	154267380	0.111000	0.22076	0.213000	0.23690	0.099000	0.18886	3.127000	0.50484	1.332000	0.45431	0.563000	0.77884	CGG		0.498	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
GEMIN5	25929	broad.mit.edu	37	5	154307007	154307007	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154307007A>C	ENST00000285873.7	-	7	1093	c.1018T>G	c.(1018-1020)Tta>Gta	p.L340V		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	340					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.L340V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGGACATAAATTAAACACA	0.383																																					p.L340V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1018G	5						.						126.0	117.0	120.0					5																	154307007		2203	4300	6503	154287200	SO:0001583	missense	25929	exon7			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1018T>G	5.37:g.154307007A>C	ENSP00000285873:p.Leu340Val		154287200	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945364	0.53079	.	.	ENSG00000082516	ENST00000285873	T	0.04862	3.54	5.67	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.070774	0.56097	D	0.000031	T	0.09024	0.0223	N	0.14661	0.345	0.37160	D	0.902557	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.44298	-0.9337	10	0.18710	T	0.47	-8.7338	8.3391	0.32232	0.6902:0.0:0.3098:0.0	.	339;340	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	V	340	ENSP00000285873:L340V	ENSP00000285873:L340V	L	-	1	2	GEMIN5	154287200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.676000	0.37565	0.405000	0.25532	0.482000	0.46254	TTA		0.383	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
KIF4B	285643	broad.mit.edu	37	5	154394811	154394811	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154394811G>T	ENST00000435029.4	+	1	1552	c.1392G>T	c.(1390-1392)gaG>gaT	p.E464D		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	464					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.E464D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATGTAGAGATAATTTGTA	0.458																																					p.E464D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1392T	5						.						84.0	90.0	88.0					5																	154394811		2203	4300	6503	154375004	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1392G>T	5.37:g.154394811G>T	ENSP00000387875:p.Glu464Asp		154375004	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.037274	0.35893	.	.	ENSG00000226650	ENST00000435029	T	0.70986	-0.53	1.46	1.46	0.22682	.	.	.	.	.	T	0.64527	0.2606	M	0.65498	2.005	0.40646	D	0.981997	B	0.25441	0.126	B	0.25140	0.058	T	0.63229	-0.6684	9	0.36615	T	0.2	.	8.8518	0.35203	0.0:0.0:1.0:0.0	.	464	Q2VIQ3	KIF4B_HUMAN	D	464	ENSP00000387875:E464D	ENSP00000387875:E464D	E	+	3	2	KIF4B	154375004	1.000000	0.71417	0.824000	0.32777	0.922000	0.55478	0.458000	0.21892	1.131000	0.42111	0.455000	0.32223	GAG		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
KIF4B	285643	broad.mit.edu	37	5	154395452	154395452	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:154395452G>A	ENST00000435029.4	+	1	2193	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	678	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R678Q(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAAAGAACGAGACCGTAAG	0.428																																					p.R678Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2033A	5						.						131.0	133.0	133.0					5																	154395452		2203	4300	6503	154375645	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2033G>A	5.37:g.154395452G>A	ENSP00000387875:p.Arg678Gln		154375645	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	0.331	-0.956107	0.02267	.	.	ENSG00000226650	ENST00000435029	T	0.16457	2.34	2.54	0.612	0.17591	.	.	.	.	.	T	0.07098	0.0180	N	0.10809	0.05	0.29129	N	0.879782	B	0.11235	0.004	B	0.06405	0.002	T	0.42849	-0.9427	9	0.14252	T	0.57	.	4.9797	0.14158	0.3319:0.0:0.6681:0.0	.	678	Q2VIQ3	KIF4B_HUMAN	Q	678	ENSP00000387875:R678Q	ENSP00000387875:R678Q	R	+	2	0	KIF4B	154375645	1.000000	0.71417	0.482000	0.27366	0.585000	0.36419	0.500000	0.22562	-0.169000	0.10834	-0.253000	0.11424	CGA		0.428	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
HAVCR1	26762	broad.mit.edu	37	5	156479611	156479611	+	Missense_Mutation	SNP	C	C	T	rs369837589		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156479611C>T	ENST00000339252.3	-	3	966	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	HAVCR1_ENST00000522693.1_Missense_Mutation_p.R145Q|HAVCR1_ENST00000523175.1_Missense_Mutation_p.R145Q|HAVCR1_ENST00000425854.1_Missense_Mutation_p.R145Q|HAVCR1_ENST00000544197.1_Missense_Mutation_p.R145Q	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.R145Q(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTGCTCGTTCGAACAGTCGT	0.463																																					p.R145Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434A	5						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4300		0,0,2150	467.0	465.0	466.0		434,434,434	-0.3	0.0	5		466	2,8496		0,2,4247	no	missense,missense,missense	HAVCR1	NM_012206.2,NM_001173393.1,NM_001099414.1	43,43,43	0,2,6397	TT,TC,CC		0.0235,0.0,0.0156	benign,benign,benign	145/365,145/365,145/365	156479611	2,12796	2150	4249	6399	156412189	SO:0001583	missense	26762	exon3			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.434G>A	5.37:g.156479611C>T	ENSP00000344844:p.Arg145Gln		156412189	NM_012206	O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	C	0.111	-1.138494	0.01742	0.0	2.35E-4	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.15139	2.45;2.51;2.51;2.45;2.51;2.45	0.158	-0.317	0.12736	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37641	-0.9697	9	0.13470	T	0.59	.	3.5988	0.08016	0.0:0.2671:0.4858:0.2471	.	145;145	F1CME6;Q96D42	.;HAVR1_HUMAN	Q	145	ENSP00000428524:R145Q;ENSP00000427898:R145Q;ENSP00000344844:R145Q;ENSP00000403333:R145Q;ENSP00000440258:R145Q;ENSP00000428422:R145Q	ENSP00000344844:R145Q	R	-	2	0	HAVCR1	156412189	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.159000	0.10056	-2.720000	0.00389	-2.710000	0.00134	CGA		0.463	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
MED7	9443	broad.mit.edu	37	5	156566122	156566122	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156566122C>A	ENST00000286317.5	-	2	702	c.321G>T	c.(319-321)gaG>gaT	p.E107D	MED7_ENST00000420343.1_Missense_Mutation_p.E107D	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	107					gene expression (GO:0010467)|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)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.E107D(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTAGTTTCTCTTCTCGTT	0.368																																					p.E107D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G321T	5						.						73.0	78.0	76.0					5																	156566122		2203	4300	6503	156498700	SO:0001583	missense	9443	exon2			AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.321G>T	5.37:g.156566122C>A	ENSP00000286317:p.Glu107Asp		156498700	NM_001100816		Missense_Mutation	SNP	ENST00000286317.5	37	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423500	0.43020	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.91	1.07	0.20283	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.66939	2.045	0.80722	D	1	B	0.23540	0.087	B	0.40940	0.344	T	0.58109	-0.7694	9	0.30078	T	0.28	-16.2262	10.2431	0.43324	0.0:0.6711:0.0:0.3289	.	107	O43513	MED7_HUMAN	D	107	.	ENSP00000286317:E107D	E	-	3	2	MED7	156498700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.198000	0.32223	0.395000	0.25257	-0.136000	0.14681	GAG		0.368	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270	
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	C	T	rs369213663		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus (GO:0005634)		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572																																					p.S359S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1077A	5						.	C		0,4406		0,0,2203	35.0	38.0	37.0		1077	-4.0	0.0	5		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM71B	NM_130899.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		359/606	156590199	1,13005	2203	4300	6503	156522777	SO:0001819	synonymous_variant	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1077G>A	5.37:g.156590199C>T			156522777	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
FAM71B	153745	broad.mit.edu	37	5	156592899	156592899	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156592899T>G	ENST00000302938.4	-	1	376	c.281A>C	c.(280-282)aAa>aCa	p.K94T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	94						nucleus (GO:0005634)		p.K94T(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACAGATTTTAGTTGGTTG	0.547																																					p.K94T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A281C	5						.						87.0	84.0	85.0					5																	156592899		2203	4300	6503	156525477	SO:0001583	missense	153745	exon1				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.281A>C	5.37:g.156592899T>G	ENSP00000305596:p.Lys94Thr		156525477	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	0.115	-1.132950	0.01756	.	.	ENSG00000170613	ENST00000302938	T	0.03689	3.84	4.67	0.5	0.16919	.	0.660669	0.14023	N	0.346689	T	0.01661	0.0053	N	0.05510	-0.035	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.49194	-0.8965	10	0.12103	T	0.63	-18.1015	5.0076	0.14295	0.0:0.0985:0.3624:0.5391	.	94	Q8TC56	FA71B_HUMAN	T	94	ENSP00000305596:K94T	ENSP00000305596:K94T	K	-	2	0	FAM71B	156525477	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	0.565000	0.23578	0.330000	0.23485	0.460000	0.39030	AAA		0.547	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
ITK	3702	broad.mit.edu	37	5	156607997	156607997	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156607997C>T	ENST00000422843.3	+	1	161	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	3					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.N3N(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCATGAACAACTTTATCCTCC	0.443			T	SYK	peripheral T-cell lymphoma																																p.N3N	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9T	5						.						85.0	79.0	81.0					5																	156607997		2203	4300	6503	156540575	SO:0001819	synonymous_variant	3702	exon1			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.9C>T	5.37:g.156607997C>T			156540575	NM_005546	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.443	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
ITK	3702	broad.mit.edu	37	5	156635937	156635937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156635937G>A	ENST00000422843.3	+	2	328	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R59Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GAGCTCTCCCGAATCAAATGT	0.458			T	SYK	peripheral T-cell lymphoma																																p.R59Q	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	5						.						122.0	109.0	114.0					5																	156635937		2203	4300	6503	156568515	SO:0001583	missense	3702	exon2			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.176G>A	5.37:g.156635937G>A	ENSP00000398655:p.Arg59Gln		156568515	NM_005546	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434269	0.83776	.	.	ENSG00000113263	ENST00000422843	T	0.74947	-0.89	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.187688	0.44483	D	0.000452	T	0.70710	0.3255	L	0.43152	1.355	0.28451	N	0.916353	D	0.57571	0.98	P	0.46940	0.532	T	0.70454	-0.4867	10	0.66056	D	0.02	.	11.9447	0.52922	0.0844:0.0:0.9156:0.0	.	59	Q08881	ITK_HUMAN	Q	59	ENSP00000398655:R59Q	ENSP00000398655:R59Q	R	+	2	0	ITK	156568515	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	4.997000	0.63921	2.458000	0.83093	0.561000	0.74099	CGA		0.458	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
ITK	3702	broad.mit.edu	37	5	156638364	156638364	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156638364C>T	ENST00000422843.3	+	3	462	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	104	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L104L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GCGCTGGGTGCTGGCCCTTAA	0.483			T	SYK	peripheral T-cell lymphoma																																p.L104L	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C310T	5						.						103.0	98.0	100.0					5																	156638364		2203	4300	6503	156570942	SO:0001819	synonymous_variant	3702	exon3			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.310C>T	5.37:g.156638364C>T			156570942	NM_005546	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.483	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
ITK	3702	broad.mit.edu	37	5	156668697	156668697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156668697C>T	ENST00000422843.3	+	11	1179	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	343					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.Q343*(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TTTTGGGAGGCAGAAAGCCCC	0.483			T	SYK	peripheral T-cell lymphoma																																p.Q343X	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1027T	5						.						85.0	72.0	76.0					5																	156668697		2203	4300	6503	156601275	SO:0001587	stop_gained	3702	exon11			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1027C>T	5.37:g.156668697C>T	ENSP00000398655:p.Gln343*		156601275	NM_005546	B2R752|Q32ML7	Nonsense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	37	6.353640	0.97498	.	.	ENSG00000113263	ENST00000422843	.	.	.	6.08	5.14	0.70334	.	0.488922	0.24786	N	0.035619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8509	0.63496	0.2345:0.7655:0.0:0.0	.	.	.	.	X	343	.	ENSP00000398655:Q343X	Q	+	1	0	ITK	156601275	0.561000	0.26578	1.000000	0.80357	0.505000	0.33919	0.745000	0.26259	2.894000	0.99253	0.655000	0.94253	CAG		0.483	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
FNDC9	408263	broad.mit.edu	37	5	156766139	156766139	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156766139C>T	ENST00000312349.4	-	0	2125				CYFIP2_ENST00000318218.6_Silent_p.F845F|CYFIP2_ENST00000442283.2_Silent_p.F105F|CYFIP2_ENST00000377576.3_Silent_p.F820F|CYFIP2_ENST00000522463.1_Silent_p.F624F|CYFIP2_ENST00000347377.6_Silent_p.F820F|CYFIP2_ENST00000435847.2_Silent_p.F519F|CYFIP2_ENST00000541131.1_Silent_p.F745F|CYFIP2_ENST00000521420.1_Silent_p.F794F	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9							integral component of membrane (GO:0016021)		p.F845F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGGACAGCTTCGATGCCATGT	0.547																																					p.F820F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2460T	5						.						84.0	92.0	89.0					5																	156766139		2184	4296	6480	156698717	SO:0001628	intergenic_variant	26999	exon22			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"""Fibronectin type III domain containing"""	33547	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 40"""	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248		5.37:g.156766139C>T			156698717	NM_001037333	A8K0Y6	Silent	SNP	ENST00000312349.4	37	CCDS4337.1																																																																																				0.547	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343	
CYFIP2	26999	broad.mit.edu	37	5	156786060	156786060	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156786060C>T	ENST00000442283.2	+	25	2856	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	CYFIP2_ENST00000318218.6_Silent_p.F932F|CYFIP2_ENST00000377576.3_Silent_p.F907F|CYFIP2_ENST00000522463.1_Silent_p.F711F|CYFIP2_ENST00000347377.6_Silent_p.F907F|CYFIP2_ENST00000435847.2_Silent_p.F606F|CYFIP2_ENST00000541131.1_Silent_p.F832F|CYFIP2_ENST00000521420.1_Silent_p.F881F	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2									p.F932F(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGAATTTCGTGGGGCCAC	0.488																																					p.F907F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2721T	5						.						188.0	191.0	190.0					5																	156786060		1990	4166	6156	156718638	SO:0001583	missense	26999	exon24			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000442283.2:c.574C>T	5.37:g.156786060C>T	ENSP00000390948:p.Arg192Cys		156718638	NM_001037333		Silent	SNP	ENST00000442283.2	37		.	.	.	.	.	.	.	.	.	.	C	14.08	2.430157	0.43122	.	.	ENSG00000055163	ENST00000442283	T	0.21543	2.0	5.28	-4.01	0.04045	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.27376	N	0.955557	.	.	.	.	.	.	T	0.43507	-0.9387	6	0.87932	D	0	-27.2951	15.4154	0.74962	0.0:0.4586:0.0:0.5414	.	.	.	.	C	192	ENSP00000390948:R192C	ENSP00000390948:R192C	R	+	1	0	CYFIP2	156718638	0.000000	0.05858	0.915000	0.36163	0.895000	0.52256	-1.768000	0.01794	-1.006000	0.03412	-0.907000	0.02831	CGT		0.488	CYFIP2-205	KNOWN	basic	protein_coding	protein_coding		NM_001037332	
CYFIP2	26999	broad.mit.edu	37	5	156816394	156816394	+	Silent	SNP	C	C	T	rs267600516		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156816394C>T	ENST00000521420.1	+	28	3418	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F	CYFIP2_ENST00000318218.6_Silent_p.F1160F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.F1135F|CYFIP2_ENST00000522463.1_Silent_p.F939F|CYFIP2_ENST00000347377.6_Silent_p.F1135F|CYFIP2_ENST00000435847.2_Silent_p.F834F|CYFIP2_ENST00000541131.1_Silent_p.F1060F					cytoplasmic FMR1 interacting protein 2									p.F1160F(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATGCAGTTCGTGTACTGCA	0.617																																					p.F1135F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3405T	5						.	C	,,	0,4312		0,0,2156	53.0	61.0	59.0		3405,3405,3405	-3.9	0.9	5		59	1,8559		0,1,4279	no	coding-synonymous,coding-synonymous,coding-synonymous	CYFIP2	NM_001037332.2,NM_001037333.1,NM_014376.2	,,	0,1,6435	TT,TC,CC		0.0117,0.0,0.0078	,,	1135/1254,1135/1254,1135/1254	156816394	1,12871	2156	4280	6436	156748972	SO:0001819	synonymous_variant	26999	exon29			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3327C>T	5.37:g.156816394C>T			156748972	NM_001037333		Silent	SNP	ENST00000521420.1	37																																																																																					0.617	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	
SOX30	11063	broad.mit.edu	37	5	157075817	157075817	+	Missense_Mutation	SNP	C	C	T	rs574355786		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:157075817C>T	ENST00000265007.6	-	2	1396	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	SOX30_ENST00000311371.5_Missense_Mutation_p.R352Q|SOX30_ENST00000519442.1_Missense_Mutation_p.R47Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	352					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R352Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGTGCTGGTCGGTGGATCCT	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17487	0.0		0.0	False		,,,				2504	0.0				p.R352Q	Esophageal Squamous(31;525 799 19355 21125 41744)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1055A	5						.						187.0	175.0	179.0					5																	157075817		2203	4300	6503	157008395	SO:0001583	missense	11063	exon2			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1055G>A	5.37:g.157075817C>T	ENSP00000265007:p.Arg352Gln		157008395	NM_007017	O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241420	0.95272	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.98633	-5.04;-5.04;-5.04	5.67	5.67	0.87782	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000008	D	0.99168	0.9712	M	0.81614	2.55	0.46061	D	0.998846	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.99826	1.1050	10	0.87932	D	0	.	19.7658	0.96340	0.0:1.0:0.0:0.0	.	47;352;352	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	Q	352;352;47	ENSP00000309343:R352Q;ENSP00000265007:R352Q;ENSP00000427984:R47Q	ENSP00000265007:R352Q	R	-	2	0	SOX30	157008395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.448000	0.73469	2.661000	0.90470	0.555000	0.69702	CGA		0.463	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017	
LSM11	134353	broad.mit.edu	37	5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	180	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.R180W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGGACTTCGGGGCGTCTG	0.498																																					p.R180W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	5						.						137.0	132.0	134.0					5																	157178487		2203	4300	6503	157111065	SO:0001583	missense	134353	exon2			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.538C>T	5.37:g.157178487C>T	ENSP00000286307:p.Arg180Trp		157111065	NM_173491	A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756550	0.89843	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85183	0.1005	9	0.87932	D	0	-12.0939	20.5827	0.99408	0.0:1.0:0.0:0.0	.	180	P83369	LSM11_HUMAN	W	180	.	ENSP00000286307:R180W	R	+	1	2	LSM11	157111065	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.794000	0.62482	2.941000	0.99782	0.655000	0.94253	CGG		0.498	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491	
CLINT1	9685	broad.mit.edu	37	5	157241238	157241238	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:157241238C>A	ENST00000411809.2	-	4	511	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E85*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E103*|CLINT1_ENST00000523094.1_Nonsense_Mutation_p.E85*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E85*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	103	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)	p.E85*(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAATGTGTTCTCTGGCACTT	0.353																																					p.E103X	Colon(22;427 587 2170 6147 14291)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G307T	5						.						80.0	78.0	78.0					5																	157241238		1856	4106	5962	157173816	SO:0001587	stop_gained	9685	exon4			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.307G>T	5.37:g.157241238C>A	ENSP00000388340:p.Glu103*		157173816	NM_014666	B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Nonsense_Mutation	SNP	ENST00000411809.2	37	CCDS47330.1	.	.	.	.	.	.	.	.	.	.	C	37	6.375668	0.97515	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	17.1358	20.0966	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	85;85;103;85;103	.	ENSP00000296951:E85X	E	-	1	0	CLINT1	157173816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.751000	0.94390	0.650000	0.86243	GAA		0.353	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666	
RNF145	153830	broad.mit.edu	37	5	158585758	158585758	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:158585758C>T	ENST00000424310.2	-	11	2271	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	RNF145_ENST00000518802.1_Missense_Mutation_p.D668N|RNF145_ENST00000520638.1_Missense_Mutation_p.D652N|RNF145_ENST00000521606.2_Missense_Mutation_p.D655N|RNF145_ENST00000519865.1_Missense_Mutation_p.D638N|RNF145_ENST00000274542.2_Missense_Mutation_p.D666N|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	638						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.D666N(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGTTATCTGGTCGTCTG	0.502																																					p.D652N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1954A	5						.						149.0	151.0	150.0					5																	158585758		2203	4300	6503	158518336	SO:0001583	missense	153830	exon11			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1912G>A	5.37:g.158585758C>T	ENSP00000409064:p.Asp638Asn		158518336	NM_001199382	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	C	3.430	-0.116304	0.06881	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76968	-1.06;-1.05;-1.05;-1.06;-1.06;-1.06;-1.05	5.11	2.32	0.28847	.	1.284980	0.05159	N	0.497344	T	0.59918	0.2229	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.44772	-0.9306	10	0.17369	T	0.5	0.4761	4.9321	0.13923	0.1534:0.6189:0.1479:0.0798	.	655;652;668;638;666	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	N	666;638;638;654;655;668;638;652	ENSP00000274542:D666N;ENSP00000430397:D638N;ENSP00000409064:D638N;ENSP00000430753:D654N;ENSP00000445115:D655N;ENSP00000430955:D668N;ENSP00000429071:D652N	ENSP00000274542:D666N	D	-	1	0	RNF145	158518336	0.000000	0.05858	0.029000	0.17559	0.721000	0.41392	0.331000	0.19733	0.540000	0.28808	0.655000	0.94253	GAT		0.502	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
RNF145	153830	broad.mit.edu	37	5	158585904	158585904	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:158585904G>A	ENST00000424310.2	-	11	2125	c.1766C>T	c.(1765-1767)aCt>aTt	p.T589I	RNF145_ENST00000518802.1_Missense_Mutation_p.T619I|RNF145_ENST00000520638.1_Missense_Mutation_p.T603I|RNF145_ENST00000521606.2_Missense_Mutation_p.T606I|RNF145_ENST00000519865.1_Missense_Mutation_p.T589I|RNF145_ENST00000274542.2_Missense_Mutation_p.T617I|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	589						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.T617I(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTGGCTCAGTTCCTAATCC	0.527																																					p.T603I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1808T	5						.						62.0	61.0	61.0					5																	158585904		2203	4300	6503	158518482	SO:0001583	missense	153830	exon11			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1766C>T	5.37:g.158585904G>A	ENSP00000409064:p.Thr589Ile		158518482	NM_001199382	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996602	0.35226	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78707	-1.19;-1.19;-1.19;-1.19;-1.19;-1.2;-1.18	5.18	5.18	0.71444	.	0.544310	0.21148	N	0.079368	T	0.74733	0.3755	L	0.46157	1.445	0.29115	N	0.880602	B;B;B;B;B	0.19583	0.037;0.002;0.01;0.011;0.018	B;B;B;B;B	0.23419	0.029;0.007;0.021;0.006;0.046	T	0.67377	-0.5686	10	0.38643	T	0.18	-1.2993	18.6996	0.91615	0.0:0.0:1.0:0.0	.	606;603;619;589;617	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	I	617;589;589;605;606;619;589;603	ENSP00000274542:T617I;ENSP00000430397:T589I;ENSP00000409064:T589I;ENSP00000430753:T605I;ENSP00000445115:T606I;ENSP00000430955:T619I;ENSP00000429071:T603I	ENSP00000274542:T617I	T	-	2	0	RNF145	158518482	0.583000	0.26757	0.015000	0.15790	0.986000	0.74619	3.163000	0.50763	2.415000	0.81967	0.655000	0.94253	ACT		0.527	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
IL12B	3593	broad.mit.edu	37	5	158750222	158750222	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:158750222G>T	ENST00000231228.2	-	3	659	c.204C>A	c.(202-204)gtC>gtA	p.V68V		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	68	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.V68V(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGAGCCTAAGACCTCACTGC	0.537																																					p.V68V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204A	5						.						98.0	88.0	91.0					5																	158750222		2203	4300	6503	158682800	SO:0001819	synonymous_variant	3593	exon3			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.204C>A	5.37:g.158750222G>T			158682800	NM_002187		Silent	SNP	ENST00000231228.2	37	CCDS4346.1																																																																																				0.537	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187	
ADRA1B	147	broad.mit.edu	37	5	159344141	159344141	+	Missense_Mutation	SNP	C	C	T	rs571519472		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159344141C>T	ENST00000306675.3	+	1	352	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.R77W(2)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CCGGCACCTGCGGACGCCCAC	0.612																																					p.R77W												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C229T	5						.						108.0	103.0	105.0					5																	159344141		2203	4300	6503	159276719	SO:0001583	missense	147	exon1			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.229C>T	5.37:g.159344141C>T	ENSP00000306662:p.Arg77Trp		159276719	NM_000679	B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467446	0.63625	.	.	ENSG00000170214	ENST00000306675	T	0.45276	0.9	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	H	0.95328	3.655	0.46396	D	0.999024	D	0.89917	1.0	D	0.85130	0.997	T	0.81337	-0.0978	10	0.87932	D	0	.	13.3092	0.60370	0.1588:0.8412:0.0:0.0	.	77	P35368	ADA1B_HUMAN	W	77	ENSP00000306662:R77W	ENSP00000306662:R77W	R	+	1	2	ADRA1B	159276719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.239000	0.51360	2.536000	0.85505	0.462000	0.41574	CGG		0.612	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1		
ADRA1B	147	broad.mit.edu	37	5	159344473	159344473	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159344473G>A	ENST00000306675.3	+	1	684	c.561G>A	c.(559-561)ccG>ccA	p.P187P		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	187					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.P187P(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	GGAAGGAGCCGGCACCCAACG	0.607																																					p.P187P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G561A	5						.						99.0	95.0	96.0					5																	159344473		2203	4300	6503	159277051	SO:0001819	synonymous_variant	147	exon1			L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.561G>A	5.37:g.159344473G>A			159277051	NM_000679	B0LPE1	Silent	SNP	ENST00000306675.3	37	CCDS4347.1																																																																																				0.607	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1		
TTC1	7265	broad.mit.edu	37	5	159492045	159492045	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159492045C>A	ENST00000231238.5	+	8	962	c.852C>A	c.(850-852)ttC>ttA	p.F284L	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Missense_Mutation_p.F284L	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	284					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)	p.F284L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCATCAATTTCGTTCAAAATC	0.423																																					p.F284L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C852A	5						.						56.0	57.0	56.0					5																	159492045		2203	4300	6503	159424623	SO:0001583	missense	7265	exon8			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.852C>A	5.37:g.159492045C>A	ENSP00000231238:p.Phe284Leu		159424623	NM_003314	B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580131	0.86645	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.38722	1.12;1.12	5.44	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.71951	-0.4437	10	0.56958	D	0.05	-21.1854	11.0951	0.48139	0.0:0.0746:0.0:0.9254	.	284	Q99614	TTC1_HUMAN	L	284	ENSP00000231238:F284L;ENSP00000429225:F284L	ENSP00000231238:F284L	F	+	3	2	TTC1	159424623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.027000	0.49697	0.993000	0.38866	-0.290000	0.09829	TTC		0.423	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314	
PWWP2A	114825	broad.mit.edu	37	5	159505169	159505169	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159505169C>A	ENST00000523662.1	-	3	1589	c.1556G>T	c.(1555-1557)aGa>aTa	p.R519I	PWWP2A_ENST00000456329.3_Missense_Mutation_p.R559I	NM_001267035.1	NP_001253964.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	0								p.R559I(1)		kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCTAATGTCTTTGTGCTGA	0.378																																					p.R559I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1676T	5						.						61.0	59.0	60.0					5																	159505169		1878	4101	5979	159437747	SO:0001583	missense	114825	exon4				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000523662.1:c.1556G>T	5.37:g.159505169C>A	ENSP00000428143:p.Arg519Ile		159437747	NM_052927	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000523662.1	37	CCDS58990.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421900	0.62622	.	.	ENSG00000170234	ENST00000456329;ENST00000523662	T;T	0.35236	1.32;1.44	6.08	6.08	0.98989	.	.	.	.	.	T	0.64023	0.2561	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65117	-0.6246	8	0.87932	D	0	.	18.4365	0.90648	0.0:1.0:0.0:0.0	.	519;559	G5EA07;Q96N64-2	.;.	I	559;519	ENSP00000390462:R559I;ENSP00000428143:R519I	ENSP00000390462:R559I	R	-	2	0	PWWP2A	159437747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.719000	0.61937	2.894000	0.99253	0.655000	0.94253	AGA		0.378	PWWP2A-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000374091.1		
PWWP2A	114825	broad.mit.edu	37	5	159520275	159520275	+	Missense_Mutation	SNP	C	C	T	rs374605320		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159520275C>T	ENST00000307063.7	-	2	1416	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	PWWP2A_ENST00000523662.1_Missense_Mutation_p.R461Q|PWWP2A_ENST00000456329.3_Missense_Mutation_p.R461Q	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	461								p.R461Q(1)		kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCTGATATCGACGTGTGAA	0.418																																					p.R461Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1382A	5						.	C	GLN/ARG,GLN/ARG	0,3734		0,0,1867	86.0	79.0	81.0		1382,1382	5.5	0.5	5		81	2,8208		0,2,4103	no	missense,missense	PWWP2A	NM_001130864.1,NM_052927.2	43,43	0,2,5970	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging	461/756,461/561	159520275	2,11942	1867	4105	5972	159452853	SO:0001583	missense	114825	exon2				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1382G>A	5.37:g.159520275C>T	ENSP00000305151:p.Arg461Gln		159452853	NM_001130864	G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Missense_Mutation	SNP	ENST00000307063.7	37	CCDS47332.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101176	0.56183	0.0	2.44E-4	ENSG00000170234	ENST00000456329;ENST00000523662;ENST00000307063	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	.	0.055197	0.64402	D	0.000001	T	0.18593	0.0446	N	0.19112	0.55	0.80722	D	1	P;D;D	0.55800	0.954;0.973;0.973	B;B;B	0.39935	0.166;0.314;0.314	T	0.02533	-1.1145	10	0.26408	T	0.33	-1.8136	19.1388	0.93439	0.0:1.0:0.0:0.0	.	461;461;461	Q96N64;G5EA07;Q96N64-2	PWP2A_HUMAN;.;.	Q	461	ENSP00000390462:R461Q;ENSP00000428143:R461Q;ENSP00000305151:R461Q	ENSP00000305151:R461Q	R	-	2	0	PWWP2A	159452853	0.999000	0.42202	0.536000	0.28039	0.991000	0.79684	4.173000	0.58249	2.625000	0.88918	0.558000	0.71614	CGA		0.418	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1		
ZBED8	63920	broad.mit.edu	37	5	159821438	159821438	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159821438G>T	ENST00000408953.3	-	2	1567	c.1060C>A	c.(1060-1062)Ctt>Att	p.L354I	C5orf54_ENST00000523213.1_Missense_Mutation_p.L354I	NM_022090.3	NP_071373.2												p.L354I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttgtggtgaagaaactgattt	0.333																																					p.L354I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1060A	5						.						33.0	34.0	34.0					5																	159821438		2202	4298	6500	159754016	SO:0001583	missense	63920	exon2																														ENST00000408953.3:c.1060C>A	5.37:g.159821438G>T	ENSP00000386184:p.Leu354Ile		159754016	NM_022090		Missense_Mutation	SNP	ENST00000408953.3	37	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535371	0.45176	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.31247	1.5;1.5	2.78	2.78	0.32641	.	.	.	.	.	T	0.45796	0.1360	L	0.58583	1.82	0.23366	N	0.997826	D	0.64830	0.994	D	0.63381	0.914	T	0.14980	-1.0453	9	0.66056	D	0.02	.	9.2447	0.37518	0.0:0.0:1.0:0.0	.	354	Q8IZ13	CE054_HUMAN	I	354	ENSP00000386184:L354I;ENSP00000428831:L354I	ENSP00000386184:L354I	L	-	1	0	C5orf54	159754016	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.857000	0.48349	1.880000	0.54463	0.655000	0.94253	CTT		0.333	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1		
ZBED8	63920	broad.mit.edu	37	5	159821712	159821712	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159821712C>A	ENST00000408953.3	-	2	1293	c.786G>T	c.(784-786)gaG>gaT	p.E262D	C5orf54_ENST00000523213.1_Missense_Mutation_p.E262D	NM_022090.3	NP_071373.2												p.E262D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tatgaggtatctcttttttca	0.403																																					p.E262D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G786T	5						.						140.0	134.0	136.0					5																	159821712		2203	4300	6503	159754290	SO:0001583	missense	63920	exon2																														ENST00000408953.3:c.786G>T	5.37:g.159821712C>A	ENSP00000386184:p.Glu262Asp		159754290	NM_022090		Missense_Mutation	SNP	ENST00000408953.3	37	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	4.454	0.084161	0.08583	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.14766	2.48;2.48	2.84	-1.6	0.08426	.	.	.	.	.	T	0.04724	0.0128	N	0.04724	-0.175	0.24740	N	0.99305	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	9	0.14656	T	0.56	.	3.6151	0.08074	0.1724:0.614:0.0:0.2136	.	262	Q8IZ13	CE054_HUMAN	D	262	ENSP00000386184:E262D;ENSP00000428831:E262D	ENSP00000386184:E262D	E	-	3	2	C5orf54	159754290	0.165000	0.22948	0.734000	0.30879	0.814000	0.46013	-0.012000	0.12699	-0.400000	0.07656	0.655000	0.94253	GAG		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1		
FBXL7	23194	broad.mit.edu	37	5	15928004	15928004	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:15928004G>A	ENST00000504595.1	+	3	614	c.133G>A	c.(133-135)Gac>Aac	p.D45N	FBXL7_ENST00000329673.7_Missense_Mutation_p.D33N|FBXL7_ENST00000510662.1_5'UTR	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	45					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.D45N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCCAGACTCCGACCTGAGCAT	0.537																																					p.D45N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	5						.						87.0	93.0	91.0					5																	15928004		2045	4202	6247	15981004	SO:0001583	missense	23194	exon3			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.133G>A	5.37:g.15928004G>A	ENSP00000423630:p.Asp45Asn		15981004	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790606	0.90367	.	.	ENSG00000183580	ENST00000504595;ENST00000329673	T;T	0.09350	2.99;2.99	5.43	5.43	0.79202	.	0.102097	0.64402	D	0.000004	T	0.09992	0.0245	L	0.27053	0.805	0.80722	D	1	D	0.56746	0.977	B	0.43754	0.43	T	0.25363	-1.0134	10	0.09338	T	0.73	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	45	Q9UJT9	FBXL7_HUMAN	N	45;33	ENSP00000423630:D45N;ENSP00000329632:D33N	ENSP00000329632:D33N	D	+	1	0	FBXL7	15981004	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	GAC		0.537	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
FBXL7	23194	broad.mit.edu	37	5	15936632	15936632	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:15936632G>T	ENST00000504595.1	+	4	1294	c.813G>T	c.(811-813)caG>caT	p.Q271H	FBXL7_ENST00000329673.7_Missense_Mutation_p.Q259H|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.Q224H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	271					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.Q271H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATGGCAAACAGATTTCCATCC	0.577																																					p.Q271H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G813T	5						.						72.0	73.0	73.0					5																	15936632		2168	4265	6433	15989632	SO:0001583	missense	23194	exon4			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.813G>T	5.37:g.15936632G>T	ENSP00000423630:p.Gln271His		15989632	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680613	0.47886	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.52754	0.65;0.65;0.65	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	N	0.24115	0.695	0.58432	D	0.999997	D	0.63880	0.993	P	0.56751	0.805	T	0.18304	-1.0341	10	0.14252	T	0.57	.	12.5036	0.55970	0.0875:0.0:0.9125:0.0	.	271	Q9UJT9	FBXL7_HUMAN	H	271;224;259	ENSP00000423630:Q271H;ENSP00000425184:Q224H;ENSP00000329632:Q259H	ENSP00000329632:Q259H	Q	+	3	2	FBXL7	15989632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.809000	0.62591	2.414000	0.81942	0.655000	0.94253	CAG		0.577	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
ZBED8	63920	broad.mit.edu	37	5	159821898	159821898	+	Silent	SNP	G	G	A	rs373610961		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:159821898G>A	ENST00000408953.3	-	2	1107	c.600C>T	c.(598-600)atC>atT	p.I200I	C5orf54_ENST00000523213.1_Silent_p.I200I	NM_022090.3	NP_071373.2												p.I200I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attcttctacgatctctcttt	0.408																																					p.I200I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C600T	5						.	G		0,4406		0,0,2203	57.0	56.0	56.0		600	-1.8	0.1	5		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5orf54	NM_022090.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		200/595	159821898	1,13005	2203	4300	6503	159754476	SO:0001819	synonymous_variant	63920	exon2																														ENST00000408953.3:c.600C>T	5.37:g.159821898G>A			159754476	NM_022090		Silent	SNP	ENST00000408953.3	37	CCDS34283.1																																																																																				0.408	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1		
MARCH11	441061	broad.mit.edu	37	5	16067624	16067624	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16067624C>A	ENST00000332432.8	-	4	1364	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	389					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D389Y(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GAGCTGTTATCTTCTGATAAG	0.468																																					p.D389Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165T	5						.						189.0	183.0	185.0					5																	16067624		1935	4138	6073	16120624	SO:0001583	missense	441061	exon4			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1165G>T	5.37:g.16067624C>A	ENSP00000333181:p.Asp389Tyr		16120624	NM_001102562	A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433337	0.43224	.	.	ENSG00000183654	ENST00000332432	T	0.19669	2.13	5.12	5.12	0.69794	.	0.125218	0.52532	D	0.000067	T	0.28433	0.0703	N	0.22421	0.69	0.46113	D	0.998874	D	0.61697	0.99	P	0.54759	0.76	T	0.04752	-1.0929	10	0.66056	D	0.02	-21.7086	18.9417	0.92608	0.0:1.0:0.0:0.0	.	389	A6NNE9	MARHB_HUMAN	Y	389	ENSP00000333181:D389Y	ENSP00000333181:D389Y	D	-	1	0	MARCH11	16120624	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.241000	0.65384	2.525000	0.85131	0.655000	0.94253	GAT		0.468	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562	
GABRB2	2561	broad.mit.edu	37	5	160886849	160886849	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:160886849T>C	ENST00000393959.1	-	4	238	c.239A>G	c.(238-240)gAt>gGt	p.D80G	GABRB2_ENST00000517901.1_Splice_Site_p.D17G|GABRB2_ENST00000353437.6_Splice_Site_p.D80G|GABRB2_ENST00000274547.2_Splice_Site_p.D80G|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Splice_Site_p.D80G			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	80					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.D80G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAGGTATAATCCTGTAAATG	0.353																																					p.D80G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A239G	5						.						45.0	44.0	45.0					5																	160886849		2203	4300	6503	160819427	SO:0001630	splice_region_variant	2561	exon5				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.238-1A>G	5.37:g.160886849T>C			160819427	NM_000813	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.493480	0.84962	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.052351	0.85682	D	0.000000	D	0.91620	0.7352	H	0.96301	3.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.997;0.999	D	0.94222	0.7468	10	0.87932	D	0	.	14.9655	0.71188	0.0:0.0:0.0:1.0	.	80;17;80;80	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	G	80;80;80;80;17	ENSP00000377531:D80G;ENSP00000274547:D80G;ENSP00000274546:D80G;ENSP00000429320:D80G;ENSP00000430532:D17G	ENSP00000274547:D80G	D	-	2	0	GABRB2	160819427	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.903000	0.87398	1.988000	0.58038	0.533000	0.62120	GAT		0.353	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		Missense_Mutation
GABRA1	2554	broad.mit.edu	37	5	161318045	161318045	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:161318045G>A	ENST00000428797.2	+	9	1200	c.845G>A	c.(844-846)aGa>aAa	p.R282K	GABRA1_ENST00000444819.1_Missense_Mutation_p.R282K|GABRA1_ENST00000023897.6_Missense_Mutation_p.R282K|GABRA1_ENST00000393943.4_Missense_Mutation_p.R282K|GABRA1_ENST00000437025.2_Missense_Mutation_p.R282K|GABRA1_ENST00000420560.1_Missense_Mutation_p.R282K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	282					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R282K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTACCAGCAAGAACTGTCTTT	0.393																																					p.R282K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G845A	5						.						107.0	106.0	106.0					5																	161318045		2203	4300	6503	161250623	SO:0001583	missense	2554	exon8				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.845G>A	5.37:g.161318045G>A	ENSP00000393097:p.Arg282Lys		161250623	NM_001127646	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981347	0.97168	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.52	5.52	0.82312	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	H	0.96239	3.79	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.95800	0.8832	10	0.87932	D	0	.	19.4464	0.94849	0.0:0.0:1.0:0.0	.	282	P14867	GBRA1_HUMAN	K	282	ENSP00000023897:R282K;ENSP00000393097:R282K;ENSP00000377517:R282K;ENSP00000415441:R282K;ENSP00000408041:R282K;ENSP00000414232:R282K	ENSP00000023897:R282K	R	+	2	0	GABRA1	161250623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.695000	0.98691	2.603000	0.88011	0.650000	0.86243	AGA		0.393	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GABRA1	2554	broad.mit.edu	37	5	161324131	161324131	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:161324131G>T	ENST00000428797.2	+	11	1429	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	GABRA1_ENST00000444819.1_Missense_Mutation_p.K358N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K358N|GABRA1_ENST00000393943.4_Missense_Mutation_p.K358N|GABRA1_ENST00000437025.2_Missense_Mutation_p.K358N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K358N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	358					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K358N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGAAAGTAAAGGATCCTCTTA	0.423																																					p.K358N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1074T	5						.						85.0	97.0	93.0					5																	161324131		2203	4300	6503	161256709	SO:0001583	missense	2554	exon10				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1074G>T	5.37:g.161324131G>T	ENSP00000393097:p.Lys358Asn		161256709	NM_001127646	D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259046	0.39896	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.32	-0.646	0.11472	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	L	0.47190	1.495	0.58432	D	0.999996	P	0.48998	0.918	P	0.54856	0.762	T	0.71859	-0.4465	10	0.13470	T	0.59	.	11.1746	0.48593	0.4355:0.0:0.5645:0.0	.	358	P14867	GBRA1_HUMAN	N	358	ENSP00000023897:K358N;ENSP00000393097:K358N;ENSP00000377517:K358N;ENSP00000415441:K358N;ENSP00000408041:K358N;ENSP00000414232:K358N	ENSP00000023897:K358N	K	+	3	2	GABRA1	161256709	0.999000	0.42202	0.983000	0.44433	0.995000	0.86356	0.494000	0.22467	-0.377000	0.07930	0.563000	0.77884	AAG		0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
GABRG2	2566	broad.mit.edu	37	5	161530912	161530912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:161530912G>T	ENST00000361925.4	+	6	869	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	GABRG2_ENST00000356592.3_Nonsense_Mutation_p.E217*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.E257*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.E122*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	217					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.E217*(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)	TCCACGTGAAGAAATTGTTTA	0.388																																					p.E217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G649T	5						.						103.0	98.0	100.0					5																	161530912		2203	4300	6503	161463490	SO:0001587	stop_gained	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.649G>T	5.37:g.161530912G>T	ENSP00000354651:p.Glu217*		161463490	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	42	9.223287	0.99105	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5165	0.95167	0.0:0.0:1.0:0.0	.	.	.	.	X	217;257;217;122;122	.	ENSP00000349000:E217X	E	+	1	0	GABRG2	161463490	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.751000	0.98889	2.615000	0.88500	0.655000	0.94253	GAA		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GABRG2	2566	broad.mit.edu	37	5	161531011	161531011	+	Missense_Mutation	SNP	G	G	A	rs549251133		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:161531011G>A	ENST00000361925.4	+	6	968	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	GABRG2_ENST00000356592.3_Missense_Mutation_p.E250K|GABRG2_ENST00000414552.2_Missense_Mutation_p.E290K|GABRG2_ENST00000393933.4_Missense_Mutation_p.E155K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	250					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.E250K(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)	AAATACCACCGAAGTAGTGAA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		14895	0.0		0.0	False		,,,				2504	0.001				p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	5						.						80.0	78.0	79.0					5																	161531011		2203	4300	6503	161463589	SO:0001583	missense	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.748G>A	5.37:g.161531011G>A	ENSP00000354651:p.Glu250Lys		161463589	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599145	0.66332	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79352	-1.26;-1.14;-1.26;-1.26;-1.26	5.39	3.59	0.41128	Neurotransmitter-gated ion-channel ligand-binding (3);	0.260839	0.45126	D	0.000395	T	0.67449	0.2894	N	0.21240	0.645	0.58432	D	0.999993	P;P;P	0.46784	0.622;0.884;0.859	B;P;B	0.45195	0.284;0.473;0.342	T	0.67971	-0.5532	10	0.72032	D	0.01	.	9.7937	0.40722	0.0735:0.0:0.786:0.1406	.	290;250;250	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	250;290;250;155;155	ENSP00000349000:E250K;ENSP00000410732:E290K;ENSP00000354651:E250K;ENSP00000377510:E155K;ENSP00000430182:E155K	ENSP00000349000:E250K	E	+	1	0	GABRG2	161463589	1.000000	0.71417	0.515000	0.27774	0.583000	0.36354	6.454000	0.73493	0.639000	0.30564	0.655000	0.94253	GAA		0.378	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
CCNG1	900	broad.mit.edu	37	5	162866403	162866403	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:162866403G>T	ENST00000340828.2	+	2	365	c.141G>T	c.(139-141)atG>atT	p.M47I	CCNG1_ENST00000393929.1_Missense_Mutation_p.M47I|RP11-541P9.3_ENST00000503504.1_RNA|CCNG1_ENST00000511683.2_Intron|RP11-541P9.3_ENST00000458002.2_RNA|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000504553.1_5'Flank|CCNG1_ENST00000512163.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	47					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.M47I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCCTCAGAATGACTGCAAGAC	0.428																																					p.M47I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G141T	5						.						132.0	124.0	127.0					5																	162866403		2203	4300	6503	162798981	SO:0001583	missense	900	exon2			D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.141G>T	5.37:g.162866403G>T	ENSP00000344635:p.Met47Ile		162798981	NM_004060	B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556541	0.45487	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.01	5.01	0.66863	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.07458	0.0188	N	0.05351	-0.065	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	T	0.11591	-1.0581	10	0.02654	T	1	-0.4491	18.3492	0.90331	0.0:0.0:1.0:0.0	.	47	P51959	CCNG1_HUMAN	I	47	ENSP00000377506:M47I;ENSP00000344635:M47I;ENSP00000423791:M47I;ENSP00000421132:M47I	ENSP00000344635:M47I	M	+	3	0	CCNG1	162798981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.283000	0.95860	2.332000	0.79248	0.467000	0.42956	ATG		0.428	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
ZNF622	90441	broad.mit.edu	37	5	16458672	16458672	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16458672C>A	ENST00000308683.2	-	4	1242	c.1116G>T	c.(1114-1116)aaG>aaT	p.K372N		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	372					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K372N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATTCCAAGTTCTTTTCTGAGG	0.403																																					p.K372N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1116T	5						.						138.0	136.0	136.0					5																	16458672		2203	4300	6503	16511672	SO:0001583	missense	90441	exon4			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1116G>T	5.37:g.16458672C>A	ENSP00000310042:p.Lys372Asn		16511672	NM_033414		Missense_Mutation	SNP	ENST00000308683.2	37	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403222	0.25291	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	3.66	0.41972	.	0.129212	0.64402	D	0.000001	T	0.61949	0.2388	M	0.66939	2.045	0.51012	D	0.999904	D	0.59357	0.985	P	0.54590	0.756	T	0.58956	-0.7544	9	0.20046	T	0.44	-0.6284	8.5393	0.33382	0.0:0.6458:0.0:0.3542	.	372	Q969S3	ZN622_HUMAN	N	372	.	ENSP00000310042:K372N	K	-	3	2	ZNF622	16511672	0.498000	0.26075	0.814000	0.32528	0.126000	0.20510	0.871000	0.28023	1.161000	0.42604	0.650000	0.86243	AAG		0.403	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414	
FAM134B	54463	broad.mit.edu	37	5	16475211	16475211	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16475211T>C	ENST00000306320.9	-	9	1219	c.1133A>G	c.(1132-1134)gAa>gGa	p.E378G	FAM134B_ENST00000399793.2_Missense_Mutation_p.E237G	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	378					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E378G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GTCCAACTGTTCCTTCTTTCT	0.453																																					p.E378G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1133G	5						.						166.0	161.0	162.0					5																	16475211		1969	4160	6129	16528211	SO:0001583	missense	54463	exon9			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.1133A>G	5.37:g.16475211T>C	ENSP00000304642:p.Glu378Gly		16528211	NM_001034850	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Missense_Mutation	SNP	ENST00000306320.9	37	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	T	7.522	0.656783	0.14580	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	T;T	0.47528	0.86;0.84	5.7	3.16	0.36331	.	0.924056	0.09236	N	0.829946	T	0.26702	0.0653	N	0.15975	0.35	0.24938	N	0.991878	P;B	0.39665	0.682;0.449	B;B	0.32980	0.156;0.098	T	0.07809	-1.0753	10	0.30078	T	0.28	-2.7684	7.047	0.25050	0.0:0.0709:0.2866:0.6425	.	378;237	Q9H6L5;Q9H6L5-2	F134B_HUMAN;.	G	237;378	ENSP00000382691:E237G;ENSP00000304642:E378G	ENSP00000304642:E378G	E	-	2	0	FAM134B	16528211	0.962000	0.33011	0.199000	0.23439	0.545000	0.35147	1.776000	0.38594	0.373000	0.24621	0.533000	0.62120	GAA		0.453	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850	
MYO10	4651	broad.mit.edu	37	5	16670653	16670653	+	Silent	SNP	C	C	T	rs371241992	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16670653C>T	ENST00000513610.1	-	39	6319	c.5865G>A	c.(5863-5865)tcG>tcA	p.S1955S	MYO10_ENST00000274203.9_Silent_p.S1312S|MYO10_ENST00000515803.1_Silent_p.S1294S|MYO10_ENST00000427430.2_Silent_p.S1312S|MYO10_ENST00000505695.1_Silent_p.S1294S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1955	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.S1955S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAAACAGCGTCGAGCCATAGC	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17410	0.0		0.001	False		,,,				2504	0.0				p.S1955S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5865A	5						.	C		2,4206		0,2,2102	52.0	54.0	53.0		5865	-11.8	0.0	5		53	0,8466		0,0,4233	no	coding-synonymous	MYO10	NM_012334.2		0,2,6335	TT,TC,CC		0.0,0.0475,0.0158		1955/2059	16670653	2,12672	2104	4233	6337	16723653	SO:0001819	synonymous_variant	4651	exon39			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5865G>A	5.37:g.16670653C>T			16723653	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.542	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MYO10	4651	broad.mit.edu	37	5	16680091	16680091	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16680091C>T	ENST00000513610.1	-	33	4961	c.4507G>A	c.(4507-4509)Gac>Aac	p.D1503N	MYO10_ENST00000274203.9_Missense_Mutation_p.D860N|MYO10_ENST00000515803.1_Missense_Mutation_p.D842N|MYO10_ENST00000427430.2_Missense_Mutation_p.D860N|MYO10_ENST00000505695.1_Missense_Mutation_p.D842N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1503					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.D1503N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTGGGGGTGTCGATCGGGGCC	0.557																																					p.D1503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4507A	5						.						86.0	84.0	85.0					5																	16680091		1962	4163	6125	16733091	SO:0001583	missense	4651	exon33			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4507G>A	5.37:g.16680091C>T	ENSP00000421280:p.Asp1503Asn		16733091	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886690	0.91814	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.46	5.46	0.80206	.	.	.	.	.	D	0.94182	0.8133	L	0.40543	1.245	0.80722	D	1	P;D;D	0.71674	0.931;0.998;0.997	B;P;P	0.57679	0.358;0.825;0.735	D	0.93788	0.7090	9	0.48119	T	0.1	.	19.6953	0.96022	0.0:1.0:0.0:0.0	.	382;1143;1503	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	N	1503;842;860;842;860	ENSP00000421280:D1503N;ENSP00000425051:D842N;ENSP00000274203:D860N;ENSP00000421170:D842N;ENSP00000391106:D860N	ENSP00000274203:D860N	D	-	1	0	MYO10	16733091	1.000000	0.71417	0.967000	0.41034	0.892000	0.51952	7.798000	0.85924	2.741000	0.93983	0.655000	0.94253	GAC		0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MYO10	4651	broad.mit.edu	37	5	16701512	16701512	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16701512C>T	ENST00000513610.1	-	25	3446	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.E355K|MYO10_ENST00000515803.1_Missense_Mutation_p.E337K|MYO10_ENST00000427430.2_Missense_Mutation_p.E355K|MYO10_ENST00000505695.1_Missense_Mutation_p.E337K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	998					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.E998K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGTCGGCTTCGAAGCCCTCA	0.602																																					p.E998K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2992A	5						.						37.0	41.0	40.0					5																	16701512		2134	4239	6373	16754512	SO:0001583	missense	4651	exon25			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2992G>A	5.37:g.16701512C>T	ENSP00000421280:p.Glu998Lys		16754512	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471396	0.43942	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.87650	-2.2;-2.28;-2.2;-2.28;-2.2	4.99	4.99	0.66335	.	.	.	.	.	T	0.78861	0.4350	L	0.27053	0.805	0.40995	D	0.984883	B;B	0.32382	0.185;0.368	B;B	0.20184	0.019;0.028	T	0.77011	-0.2746	9	0.23891	T	0.37	.	18.2828	0.90103	0.0:1.0:0.0:0.0	.	639;998	Q69YP8;Q9HD67	.;MYO10_HUMAN	K	998;337;355;337;355	ENSP00000421280:E998K;ENSP00000425051:E337K;ENSP00000274203:E355K;ENSP00000421170:E337K;ENSP00000391106:E355K	ENSP00000274203:E355K	E	-	1	0	MYO10	16754512	0.996000	0.38824	1.000000	0.80357	0.725000	0.41563	4.899000	0.63245	2.309000	0.77851	0.462000	0.41574	GAA		0.602	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
MAT2B	27430	broad.mit.edu	37	5	162945236	162945236	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:162945236G>T	ENST00000321757.6	+	7	1011	c.872G>T	c.(871-873)aGa>aTa	p.R291I	MAT2B_ENST00000280969.5_Missense_Mutation_p.R280I|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	291					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R280I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CAACGTCCGAGAAATGCTCAG	0.408																																					p.R291I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G872T	5						.						82.0	76.0	78.0					5																	162945236		2203	4300	6503	162877814	SO:0001583	missense	27430	exon7			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.872G>T	5.37:g.162945236G>T	ENSP00000325425:p.Arg291Ile		162877814	NM_013283	B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	ENST00000321757.6	37	CCDS4365.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885727	0.33255	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000415433	T;T	0.44881	0.91;0.91	6.07	3.34	0.38264	.	0.310535	0.35708	N	0.003036	T	0.37517	0.1006	M	0.62088	1.915	0.23043	N	0.998384	B;B	0.11235	0.004;0.002	B;B	0.14578	0.011;0.004	T	0.26121	-1.0112	10	0.23302	T	0.38	.	10.2629	0.43438	0.3231:0.0:0.6769:0.0	.	291;280	Q9NZL9;Q9NZL9-2	MAT2B_HUMAN;.	I	280;291;185	ENSP00000280969:R280I;ENSP00000325425:R291I	ENSP00000280969:R280I	R	+	2	0	MAT2B	162877814	0.624000	0.27102	0.986000	0.45419	0.984000	0.73092	0.428000	0.21395	0.442000	0.26555	0.655000	0.94253	AGA		0.408	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283	
MYO10	4651	broad.mit.edu	37	5	16703249	16703249	+	Silent	SNP	G	G	A	rs554883727		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16703249G>A	ENST00000513610.1	-	23	2749	c.2295C>T	c.(2293-2295)gtC>gtT	p.V765V	MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000274203.9_Silent_p.V122V|MYO10_ENST00000515803.1_Silent_p.V104V|MYO10_ENST00000427430.2_Silent_p.V122V|MYO10_ENST00000505695.1_Silent_p.V104V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	765	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.V765V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACAATAAAGGACCTTTCTGT	0.383																																					p.V765V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2295T	5						.						32.0	28.0	29.0					5																	16703249		1840	4086	5926	16756249	SO:0001819	synonymous_variant	4651	exon23			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2295C>T	5.37:g.16703249G>A			16756249	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.383	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
TENM2	57451	broad.mit.edu	37	5	167622189	167622189	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167622189C>A	ENST00000518659.1	+	15	2828	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	TENM2_ENST00000403607.2_Missense_Mutation_p.S754Y|TENM2_ENST00000519204.1_Missense_Mutation_p.S809Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S930Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S698Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	930					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S763Y(1)|p.S930Y(1)									AGCTTGGTTTCTCTCATCCGA	0.512																																					p.S921Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2762A	5						.						93.0	96.0	95.0					5																	167622189		1988	4173	6161	167554767	SO:0001583	missense	57451	exon15			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2789C>A	5.37:g.167622189C>A	ENSP00000429430:p.Ser930Tyr		167554767	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	23.3	4.401024	0.83120	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92699	-2.6;-2.6;-2.72;-3.07;-3.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	M	0.74467	2.265	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.992	D	0.96158	0.9113	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	930;930;698	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	930;930;809;698;754	ENSP00000429430:S930Y;ENSP00000438635:S930Y;ENSP00000428964:S809Y;ENSP00000427874:S698Y;ENSP00000384905:S754Y	ENSP00000384905:S754Y	S	+	2	0	ODZ2	167554767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.007000	0.70731	2.652000	0.90054	0.655000	0.94253	TCT		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM2	57451	broad.mit.edu	37	5	167630770	167630770	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167630770C>T	ENST00000518659.1	+	18	3546	c.3507C>T	c.(3505-3507)ttC>ttT	p.F1169F	TENM2_ENST00000403607.2_Silent_p.F993F|TENM2_ENST00000519204.1_Silent_p.F1048F|TENM2_ENST00000545108.1_Silent_p.F1169F|TENM2_ENST00000520394.1_Silent_p.F937F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1169					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.F1002F(1)|p.F1169F(1)									TTCAGGGATTCGAGCTGGACC	0.498																																					p.F1160F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3480T	5						.						144.0	137.0	139.0					5																	167630770		1880	4103	5983	167563348	SO:0001819	synonymous_variant	57451	exon18			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3507C>T	5.37:g.167630770C>T			167563348	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM2	57451	broad.mit.edu	37	5	167645807	167645807	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167645807G>T	ENST00000518659.1	+	23	4950	c.4911G>T	c.(4909-4911)aaG>aaT	p.K1637N	TENM2_ENST00000403607.2_Missense_Mutation_p.K1461N|TENM2_ENST00000519204.1_Missense_Mutation_p.K1516N|TENM2_ENST00000545108.1_Missense_Mutation_p.K1636N|TENM2_ENST00000520394.1_Missense_Mutation_p.K1398N	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1637					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.K1637N(1)|p.K1470N(1)									ATTCCCTGAAGATCCGTCGGG	0.502																																					p.K1628N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4884T	5						.						129.0	130.0	129.0					5																	167645807		2053	4204	6257	167578385	SO:0001583	missense	57451	exon23			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4911G>T	5.37:g.167645807G>T	ENSP00000429430:p.Lys1637Asn		167578385	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	G	13.03	2.116808	0.37339	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.56776	1.53;0.44;1.53;1.53;1.53	5.85	5.85	0.93711	.	0.084363	0.85682	D	0.000000	T	0.47021	0.1423	L	0.29908	0.895	0.49915	D	0.999834	P;P;P	0.48640	0.913;0.858;0.873	P;B;P	0.50314	0.637;0.434;0.544	T	0.25047	-1.0143	10	0.19147	T	0.46	.	10.5201	0.44914	0.143:0.0:0.857:0.0	.	1636;1637;1398	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	N	1637;1636;1516;1398;1461	ENSP00000429430:K1637N;ENSP00000438635:K1636N;ENSP00000428964:K1516N;ENSP00000427874:K1398N;ENSP00000384905:K1461N	ENSP00000384905:K1461N	K	+	3	2	ODZ2	167578385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.145000	0.58065	2.767000	0.95098	0.655000	0.94253	AAG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM2	57451	broad.mit.edu	37	5	167689735	167689735	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167689735C>T	ENST00000518659.1	+	29	8284	c.8245C>T	c.(8245-8247)Ccc>Tcc	p.P2749S	TENM2_ENST00000403607.2_Missense_Mutation_p.P2573S|TENM2_ENST00000519204.1_Missense_Mutation_p.P2628S|TENM2_ENST00000545108.1_Missense_Mutation_p.P2748S|TENM2_ENST00000520394.1_Missense_Mutation_p.P2510S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2749					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.P2749S(1)|p.P2582S(1)									TTACGTGCTTCCCGTGGAGCA	0.542																																					p.P2740S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8218T	5						.						35.0	37.0	37.0					5																	167689735		2020	4177	6197	167622313	SO:0001583	missense	57451	exon29			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8245C>T	5.37:g.167689735C>T	ENSP00000429430:p.Pro2749Ser		167622313	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	0.833	-0.744665	0.03065	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.87491	-1.78;-1.77;-1.88;-2.26;-2.25	5.25	5.25	0.73442	.	0.194658	0.56097	N	0.000031	D	0.82444	0.5038	N	0.02213	-0.635	0.54753	D	0.999987	B;B;D	0.67145	0.15;0.016;0.996	B;B;D	0.78314	0.085;0.028;0.991	T	0.77632	-0.2515	10	0.02654	T	1	.	19.1991	0.93704	0.0:1.0:0.0:0.0	.	2748;2749;2510	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	2749;2748;2628;2510;2573	ENSP00000429430:P2749S;ENSP00000438635:P2748S;ENSP00000428964:P2628S;ENSP00000427874:P2510S;ENSP00000384905:P2573S	ENSP00000384905:P2573S	P	+	1	0	ODZ2	167622313	1.000000	0.71417	0.883000	0.34634	0.730000	0.41778	5.968000	0.70413	2.620000	0.88729	0.561000	0.74099	CCC		0.542	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
WWC1	23286	broad.mit.edu	37	5	167855774	167855774	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167855774G>T	ENST00000265293.4	+	13	2484	c.1982G>T	c.(1981-1983)cGa>cTa	p.R661L	WWC1_ENST00000521089.1_Missense_Mutation_p.R661L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	661	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.R661L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTGCGACCCGAATTCAGATT	0.547																																					p.R661L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1982T	5						.						128.0	119.0	122.0					5																	167855774		2203	4300	6503	167788352	SO:0001583	missense	23286	exon13			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1982G>T	5.37:g.167855774G>T	ENSP00000265293:p.Arg661Leu		167788352	NM_001161661	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188694	0.38609	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.19669	2.13;2.13	5.56	3.76	0.43208	C2 calcium/lipid-binding domain, CaLB (1);	0.208186	0.40469	N	0.001083	T	0.14356	0.0347	L	0.40543	1.245	0.38685	D	0.952623	B;B;B;B	0.32573	0.376;0.123;0.094;0.075	B;B;B;B	0.19666	0.016;0.026;0.018;0.006	T	0.08513	-1.0718	10	0.87932	D	0	.	7.236	0.26070	0.3728:0.0:0.6272:0.0	.	661;567;567;661	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	L	661	ENSP00000265293:R661L;ENSP00000427772:R661L	ENSP00000265293:R661L	R	+	2	0	WWC1	167788352	1.000000	0.71417	0.886000	0.34754	0.648000	0.38561	2.040000	0.41203	0.687000	0.31509	0.561000	0.74099	CGA		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
WWC1	23286	broad.mit.edu	37	5	167858408	167858408	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167858408G>A	ENST00000265293.4	+	15	2741	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.D747N	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	747	C2.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.D747N(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTTAAGAGTCGATGTCTGTAC	0.602																																					p.D747N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2239A	5						.						61.0	55.0	57.0					5																	167858408		2203	4300	6503	167790986	SO:0001583	missense	23286	exon15			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2239G>A	5.37:g.167858408G>A	ENSP00000265293:p.Asp747Asn		167790986	NM_001161661	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.838425|3.838425	0.71373|0.71373	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	T;T;T|.	0.33438|.	1.41;1.41;1.41|.	5.24|5.24	5.24|5.24	0.73138|0.73138	C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71375|0.71375	0.3332|0.3332	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.89917|.	1.0;1.0;0.862;1.0|.	D;D;P;D|.	0.91635|.	0.979;0.999;0.514;0.997|.	T|T	0.68674|0.68674	-0.5346|-0.5346	10|5	0.30078|.	T|.	0.28|.	.|.	18.8505|18.8505	0.92227|0.92227	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	747;653;653;747|.	Q8IX03-2;F5H498;B3KX05;Q8IX03|.	.;.;.;KIBRA_HUMAN|.	N|Q	747;747;73|708;523	ENSP00000265293:D747N;ENSP00000427772:D747N;ENSP00000428084:D73N|.	ENSP00000265293:D747N|.	D|R	+|+	1|2	0|0	WWC1|WWC1	167790986|167790986	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.990000|0.990000	0.78478|0.78478	8.950000|8.950000	0.93019|0.93019	2.440000|2.440000	0.82611|0.82611	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
RARS	5917	broad.mit.edu	37	5	167915736	167915736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167915736C>T	ENST00000231572.3	+	2	229	c.175C>T	c.(175-177)Cga>Tga	p.R59*	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	59	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R59*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAATATTCTTCGAAAGGTGAG	0.338																																					p.R59X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C175T	5						.						51.0	55.0	54.0					5																	167915736		2199	4298	6497	167848314	SO:0001587	stop_gained	5917	exon2			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.175C>T	5.37:g.167915736C>T	ENSP00000231572:p.Arg59*		167848314	NM_002887	B2RBS9|Q53GY4|Q9BWA1	Nonsense_Mutation	SNP	ENST00000231572.3	37	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033018	0.75504	.	.	ENSG00000113643	ENST00000231572	.	.	.	5.64	5.64	0.86602	.	0.547455	0.19868	N	0.104265	.	.	.	.	.	.	0.31047	N	0.715684	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-25.4974	15.0818	0.72119	0.2091:0.7909:0.0:0.0	.	.	.	.	X	59	.	ENSP00000231572:R59X	R	+	1	2	RARS	167848314	0.214000	0.23563	0.686000	0.30086	0.318000	0.28184	1.955000	0.40372	2.655000	0.90218	0.462000	0.41574	CGA		0.338	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887	
PANK3	79646	broad.mit.edu	37	5	167990927	167990927	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:167990927C>A	ENST00000239231.6	-	4	1095	c.779G>T	c.(778-780)aGa>aTa	p.R260I	PANK3_ENST00000520504.1_Intron|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	260					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.R260I(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAAACCAAATCTTTCATAATC	0.383																																					p.R260I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G779T	5						.						116.0	121.0	119.0					5																	167990927		2203	4300	6503	167923505	SO:0001583	missense	79646	exon4			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.779G>T	5.37:g.167990927C>A	ENSP00000239231:p.Arg260Ile		167923505	NM_024594	D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310934	0.95629	.	.	ENSG00000120137	ENST00000239231	D	0.99567	-6.18	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	M	0.85197	2.74	0.80722	D	1	P	0.45240	0.854	P	0.57009	0.811	D	0.98036	1.0379	10	0.62326	D	0.03	-16.5051	17.4478	0.87583	0.0:1.0:0.0:0.0	.	260	Q9H999	PANK3_HUMAN	I	260	ENSP00000239231:R260I	ENSP00000239231:R260I	R	-	2	0	PANK3	167923505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.669000	0.83911	2.432000	0.82394	0.591000	0.81541	AGA		0.383	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594	
MYO10	4651	broad.mit.edu	37	5	16794905	16794905	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:16794905T>C	ENST00000513610.1	-	4	771	c.317A>G	c.(316-318)tAc>tGc	p.Y106C		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	106	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.Y106C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGGGCTGGTAGGGGTTCAC	0.637																																					p.Y106C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A317G	5						.						22.0	27.0	26.0					5																	16794905		2047	4196	6243	16847905	SO:0001583	missense	4651	exon4			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.317A>G	5.37:g.16794905T>C	ENSP00000421280:p.Tyr106Cys		16847905	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564043	0.86335	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436	D;D;D	0.91843	-2.92;-2.92;-2.92	5.19	5.19	0.71726	Myosin head, motor domain (3);	.	.	.	.	D	0.97232	0.9095	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98450	1.0591	9	0.87932	D	0	.	15.0845	0.72142	0.0:0.0:0.0:1.0	.	73;106	E9PCN3;Q9HD67	.;MYO10_HUMAN	C	106;117;73	ENSP00000421280:Y106C;ENSP00000421309:Y117C;ENSP00000426783:Y73C	ENSP00000426783:Y73C	Y	-	2	0	MYO10	16847905	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.033000	0.88852	1.954000	0.56735	0.533000	0.62120	TAC		0.637	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
SLIT3	6586	broad.mit.edu	37	5	168180044	168180044	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:168180044G>A	ENST00000519560.1	-	18	2308	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SLIT3_ENST00000332966.8_Missense_Mutation_p.S630L|SLIT3_ENST00000404867.3_Missense_Mutation_p.S630L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	630					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.S630L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTCTCACCGAACTCAGGCC	0.557																																					p.S630L	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1889T	5						.						143.0	101.0	115.0					5																	168180044		2203	4300	6503	168112622	SO:0001583	missense	6586	exon18			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1889C>T	5.37:g.168180044G>A	ENSP00000430333:p.Ser630Leu		168112622	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673086	0.88445	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.59906	0.23;0.23;0.23	5.34	4.46	0.54185	.	0.307696	0.36628	N	0.002487	T	0.65344	0.2682	L	0.37800	1.135	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.68743	-0.5328	10	0.87932	D	0	.	13.7188	0.62714	0.0741:0.0:0.9259:0.0	.	630	O75094	SLIT3_HUMAN	L	630	ENSP00000430333:S630L;ENSP00000332164:S630L;ENSP00000384890:S630L	ENSP00000332164:S630L	S	-	2	0	SLIT3	168112622	1.000000	0.71417	0.160000	0.22671	0.904000	0.53231	8.008000	0.88588	1.253000	0.44018	0.655000	0.94253	TCG		0.557	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
SPDL1	54908	broad.mit.edu	37	5	169018215	169018215	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169018215A>G	ENST00000265295.4	+	3	602	c.323A>G	c.(322-324)gAa>gGa	p.E108G	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E108G(1)									GAAGTGAATGAACTAAAAACT	0.353																																					p.E108G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A323G	5						.						101.0	104.0	103.0					5																	169018215		2203	4300	6503	168950793	SO:0001583	missense	54908	exon3			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.323A>G	5.37:g.169018215A>G	ENSP00000265295:p.Glu108Gly		168950793	NM_017785		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.25|11.25	1.582203|1.582203	0.28180|0.28180	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000508247;ENST00000513941;ENST00000513795|ENST00000505977	T|.	0.35421|.	1.31|.	5.37|5.37	2.81|2.81	0.32909|0.32909	.|.	0.253208|.	0.45126|.	N|.	0.000387|.	T|.	0.44912|.	0.1316|.	L|L	0.35854|0.35854	1.095|1.095	0.36859|0.36859	D|D	0.88831|0.88831	B;B|.	0.30455|.	0.28;0.082|.	B;B|.	0.31337|.	0.128;0.058|.	T|.	0.39187|.	-0.9626|.	10|.	0.38643|.	T|.	0.18|.	-5.0538|-5.0538	7.538|7.538	0.27721|0.27721	0.8037:0.0:0.0698:0.1266|0.8037:0.0:0.0698:0.1266	.|.	108;108|.	Q96EA4-2;Q96EA4|.	.;SPDLY_HUMAN|.	G|W	108|36	ENSP00000265295:E108G|.	ENSP00000265295:E108G|.	E|X	+|+	2|3	0|0	CCDC99|CCDC99	168950793|168950793	1.000000|1.000000	0.71417|0.71417	0.132000|0.132000	0.22025|0.22025	0.439000|0.439000	0.31926|0.31926	4.866000|4.866000	0.63005|0.63005	0.352000|0.352000	0.24053|0.24053	0.533000|0.533000	0.62120|0.62120	GAA|TGA		0.353	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
SPDL1	54908	broad.mit.edu	37	5	169025500	169025500	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169025500A>C	ENST00000265295.4	+	9	1332	c.1053A>C	c.(1051-1053)gaA>gaC	p.E351D		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E351D(1)									ACAGTATGGAATCTAAGCCTT	0.308																																					p.E351D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1053C	5						.						117.0	123.0	121.0					5																	169025500		2203	4300	6503	168958078	SO:0001583	missense	54908	exon9			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1053A>C	5.37:g.169025500A>C	ENSP00000265295:p.Glu351Asp		168958078	NM_017785		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.01|17.01	3.280191|3.280191	0.59758|0.59758	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000265295;ENST00000274631|ENST00000505977	T|.	0.35605|.	1.3|.	5.85|5.85	3.45|3.45	0.39498|0.39498	.|.	0.342683|.	0.32852|.	N|.	0.005567|.	T|T	0.43897|0.43897	0.1268|0.1268	M|M	0.64997|0.64997	1.995|1.995	0.23210|0.23210	N|N	0.998114|0.998114	D;B;B|.	0.76494|.	0.999;0.021;0.021|.	D;B;B|.	0.66602|.	0.945;0.021;0.021|.	T|T	0.34950|0.34950	-0.9808|-0.9808	10|5	0.12430|.	T|.	0.62|.	-7.8548|-7.8548	5.3317|5.3317	0.15936|0.15936	0.7277:0.0:0.1419:0.1304|0.7277:0.0:0.1419:0.1304	.|.	273;252;351|.	B4E393;Q96EA4-2;Q96EA4|.	.;.;SPDLY_HUMAN|.	D|L	351;252|272	ENSP00000265295:E351D|.	ENSP00000265295:E351D|.	E|I	+|+	3|1	2|0	CCDC99|CCDC99	168958078|168958078	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.975000|0.975000	0.68041|0.68041	2.036000|2.036000	0.41165|0.41165	0.464000|0.464000	0.27142|0.27142	0.523000|0.523000	0.50628|0.50628	GAA|ATC		0.308	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
SPDL1	54908	broad.mit.edu	37	5	169028293	169028293	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169028293A>G	ENST00000265295.4	+	11	1613	c.1334A>G	c.(1333-1335)gAa>gGa	p.E445G		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E445G(1)									GAGACAGTTGAAGTGCCTGTA	0.413																																					p.E445G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1334G	5						.						62.0	65.0	64.0					5																	169028293		2203	4300	6503	168960871	SO:0001583	missense	54908	exon11			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1334A>G	5.37:g.169028293A>G	ENSP00000265295:p.Glu445Gly		168960871	NM_017785		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.517019	0.27123	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.34859	1.34	5.77	3.32	0.38043	.	0.485116	0.23142	N	0.051442	T	0.29914	0.0748	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28933	0.228;0.003;0.005	B;B;B	0.30855	0.121;0.004;0.004	T	0.22941	-1.0202	10	0.46703	T	0.11	-0.5429	5.8003	0.18410	0.7384:0.0:0.1365:0.1251	.	367;346;445	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	G	445;346	ENSP00000265295:E445G	ENSP00000265295:E445G	E	+	2	0	CCDC99	168960871	1.000000	0.71417	0.721000	0.30653	0.563000	0.35712	3.484000	0.53201	0.422000	0.26005	-0.262000	0.10625	GAA		0.413	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
DOCK2	1794	broad.mit.edu	37	5	169122929	169122929	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169122929C>A	ENST00000256935.8	+	10	1046	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	322					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.P322P(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGGAGGCCCTTTGGGGTGG	0.463																																					p.P322P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966A	5						.						66.0	68.0	68.0					5																	169122929		2203	4300	6503	169055507	SO:0001819	synonymous_variant	1794	exon10			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.966C>A	5.37:g.169122929C>A			169055507	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169141039	169141039	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169141039G>A	ENST00000256935.8	+	18	1747	c.1667G>A	c.(1666-1668)aGc>aAc	p.S556N	DOCK2_ENST00000520908.1_Missense_Mutation_p.S48N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	556	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.S556N(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGGACAGCAAGAAGATG	0.547																																					p.S556N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1667A	5						.						70.0	66.0	67.0					5																	169141039		2203	4300	6503	169073617	SO:0001583	missense	1794	exon18			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1667G>A	5.37:g.169141039G>A	ENSP00000256935:p.Ser556Asn		169073617	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580399	0.13686	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908	T;T	0.13778	2.56;3.3	5.9	5.9	0.94986	.	0.074541	0.85682	D	0.000000	T	0.24774	0.0601	L	0.28776	0.89	0.80722	D	1	D;B;D	0.71674	0.998;0.198;0.98	D;B;P	0.77557	0.99;0.085;0.833	T	0.01630	-1.1308	10	0.06494	T	0.89	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	48;556;556	E7ERW7;E5RFJ0;Q92608	.;.;DOCK2_HUMAN	N	556;74;48	ENSP00000256935:S556N;ENSP00000429283:S48N	ENSP00000256935:S556N	S	+	2	0	DOCK2	169073617	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.537000	0.60643	2.797000	0.96272	0.655000	0.94253	AGC		0.547	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169477280	169477280	+	Silent	SNP	C	C	T	rs142465529		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169477280C>T	ENST00000256935.8	+	41	4172	c.4092C>T	c.(4090-4092)cgC>cgT	p.R1364R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.R856R|DOCK2_ENST00000540750.1_Silent_p.R425R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1364	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.R1364R(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCTACCGCGGGAAGGAAT	0.507																																					p.R1364R												.	.	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C4092T	5						.	C		3,4403	6.2+/-15.9	0,3,2200	142.0	145.0	144.0		4092	-10.1	0.9	5	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous	DOCK2	NM_004946.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1364/1831	169477280	3,13003	2203	4300	6503	169409858	SO:0001819	synonymous_variant	1794	exon41			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4092C>T	5.37:g.169477280C>T			169409858	NM_004946	Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.507	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
LCP2	3937	broad.mit.edu	37	5	169693867	169693867	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169693867C>T	ENST00000046794.5	-	10	1332	c.717G>A	c.(715-717)acG>acA	p.T239T	LCP2_ENST00000521416.1_Silent_p.T34T	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	239					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)		p.T239T(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGGGAGGTTTCGTGCTTCTGT	0.468																																					p.T239T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G717A	5						.						232.0	228.0	229.0					5																	169693867		1872	4095	5967	169626445	SO:0001819	synonymous_variant	3937	exon10				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.717G>A	5.37:g.169693867C>T			169626445	NM_005565	A8KA25|Q53XV4	Silent	SNP	ENST00000046794.5	37	CCDS47339.1																																																																																				0.468	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
KCNIP1	30820	broad.mit.edu	37	5	170139862	170139862	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170139862C>T	ENST00000411494.1	+	2	66	c.66C>T	c.(64-66)atC>atT	p.I22I	KCNIP1_ENST00000390656.4_Intron|KCNIP1_ENST00000520740.1_Intron|KCNIP1_ENST00000434108.1_Intron|KCNIP1_ENST00000328939.4_Intron|KCNIP1_ENST00000377360.4_Intron			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	22					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.I22I(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTAGACATCGCCTGGTGGT	0.413																																					p.I22I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	5						.						175.0	165.0	168.0					5																	170139862		2203	4300	6503	170072440	SO:0001819	synonymous_variant	30820	exon2			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.66C>T	5.37:g.170139862C>T			170072440	NM_001034837	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Intron	SNP	ENST00000411494.1	37	CCDS34286.1																																																																																				0.413	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
KCNIP1	30820	broad.mit.edu	37	5	170148874	170148874	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170148874C>T	ENST00000411494.1	+	5	327	c.327C>T	c.(325-327)ttC>ttT	p.F109F	KCNIP1_ENST00000390656.4_Silent_p.F98F|KCNIP1_ENST00000520740.1_Silent_p.F70F|KCNIP1_ENST00000434108.1_Silent_p.F123F|KCNIP1_ENST00000328939.4_Silent_p.F98F|KCNIP1_ENST00000377360.4_Silent_p.F107F			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	109	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.F109F(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATGCCTTCGACACCACTC	0.547																																					p.F107F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	5						.						243.0	214.0	224.0					5																	170148874		2203	4300	6503	170081452	SO:0001819	synonymous_variant	30820	exon4			AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.327C>T	5.37:g.170148874C>T			170081452	NM_001034838	B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Silent	SNP	ENST00000411494.1	37	CCDS34286.1																																																																																				0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1		
RANBP17	64901	broad.mit.edu	37	5	170395343	170395343	+	Missense_Mutation	SNP	A	A	C	rs372324017		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170395343A>C	ENST00000523189.1	+	14	1836	c.1672A>C	c.(1672-1674)Aaa>Caa	p.K558Q		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	558					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.K558Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGTTTCGTAAAACATATGT	0.343			T	TRD@	ALL																																p.K558Q			Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1672C	5						.						85.0	87.0	87.0					5																	170395343		2203	4300	6503	170327948	SO:0001583	missense	64901	exon14			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1672A>C	5.37:g.170395343A>C	ENSP00000427975:p.Lys558Gln		170327948	NM_022897	Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425510	0.62733	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.68181	-0.31	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	D	0.83922	0.5359	M	0.89287	3.02	0.42039	D	0.991067	D	0.76494	0.999	D	0.75484	0.986	D	0.87212	0.2248	10	0.72032	D	0.01	-19.8415	14.1338	0.65273	1.0:0.0:0.0:0.0	.	558	Q9H2T7	RBP17_HUMAN	Q	558;454	ENSP00000427975:K558Q	ENSP00000373770:K558Q	K	+	1	0	RANBP17	170327948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.560000	0.73950	2.158000	0.67659	0.482000	0.46254	AAA		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
RANBP17	64901	broad.mit.edu	37	5	170610373	170610373	+	Silent	SNP	C	C	T	rs140812950	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170610373C>T	ENST00000523189.1	+	18	2141	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	659					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.S659S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAGTCTCAGCGACTTCAGGT	0.403			T	TRD@	ALL								C|||	15	0.00299521	0.0106	0.0014	5008	,	,		16524	0.0		0.0	False		,,,				2504	0.0				p.S659S			Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1977T	5						.	C		69,4337	61.7+/-98.7	1,67,2135	115.0	101.0	106.0		1977	-0.3	1.0	5	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RANBP17	NM_022897.3		1,68,6434	TT,TC,CC		0.0116,1.566,0.5382		659/1089	170610373	70,12936	2203	4300	6503	170542978	SO:0001819	synonymous_variant	64901	exon18			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1977C>T	5.37:g.170610373C>T			170542978	NM_022897	Q8IU74	Silent	SNP	ENST00000523189.1	37	CCDS34287.1																																																																																				0.403	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
RANBP17	64901	broad.mit.edu	37	5	170626766	170626766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170626766G>T	ENST00000523189.1	+	19	2295	c.2131G>T	c.(2131-2133)Gaa>Taa	p.E711*	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	711					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.E711*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTAAACAAGAAGATGTAAA	0.343			T	TRD@	ALL																																p.E711X			Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2131T	5						.						96.0	95.0	96.0					5																	170626766		2203	4300	6503	170559371	SO:0001587	stop_gained	64901	exon19			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2131G>T	5.37:g.170626766G>T	ENSP00000427975:p.Glu711*		170559371	NM_022897	Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	38	7.130979	0.98085	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	.	.	.	6.17	6.17	0.99709	.	0.092825	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.2823	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	.	.	.	X	711;141	.	ENSP00000427975:E711X	E	+	1	0	RANBP17	170559371	1.000000	0.71417	0.990000	0.47175	0.835000	0.47333	4.122000	0.57910	2.941000	0.99782	0.655000	0.94253	GAA		0.343	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
RANBP17	64901	broad.mit.edu	37	5	170632558	170632558	+	Nonsense_Mutation	SNP	C	C	T	rs200104921		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170632558C>T	ENST00000523189.1	+	20	2337	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	725					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.R725*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGAGATCTTCGAGGGATTGC	0.463			T	TRD@	ALL								C|||	1	0.000199681	0.0	0.0014	5008	,	,		20704	0.0		0.0	False		,,,				2504	0.0				p.R725X			Dom	yes		5	5q34	64901	RAN binding protein 17		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2173T	5						.						199.0	168.0	179.0					5																	170632558		2203	4300	6503	170565163	SO:0001587	stop_gained	64901	exon20			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2173C>T	5.37:g.170632558C>T	ENSP00000427975:p.Arg725*		170565163	NM_022897	Q8IU74	Nonsense_Mutation	SNP	ENST00000523189.1	37	CCDS34287.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	38	6.731075	0.97796	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	.	.	.	5.96	5.96	0.96718	.	0.000000	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7285	20.017	0.97481	0.0:1.0:0.0:0.0	.	.	.	.	X	725;155	.	ENSP00000427975:R725X	R	+	1	2	RANBP17	170565163	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.878000	0.48515	2.832000	0.97577	0.655000	0.94253	CGA		0.463	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	
NPM1	4869	broad.mit.edu	37	5	170827867	170827867	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:170827867A>C	ENST00000296930.5	+	8	908	c.607A>C	c.(607-609)Aat>Cat	p.N203H	NPM1_ENST00000517671.1_Missense_Mutation_p.N203H|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000393820.2_Missense_Mutation_p.N203H	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	203					cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.N203H(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCAGCCAAAAATGCACAAAA	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																p.N203H			Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A607C	5						.						77.0	74.0	75.0					5																	170827867		2203	4300	6503	170760472	SO:0001583	missense	4869	exon8			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.607A>C	5.37:g.170827867A>C	ENSP00000296930:p.Asn203His		170760472	NM_002520	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	ENST00000296930.5	37	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692052	0.68271	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	T;T;T	0.17528	2.27;2.27;2.27	4.39	4.39	0.52855	.	0.251786	0.38605	U	0.001623	T	0.25644	0.0624	M	0.85197	2.74	0.22601	N	0.998946	B;B	0.28233	0.204;0.094	B;B	0.27500	0.064;0.08	T	0.24548	-1.0157	10	0.72032	D	0.01	.	11.2959	0.49277	1.0:0.0:0.0:0.0	.	203;203	P06748;Q9BYG9	NPM_HUMAN;.	H	203	ENSP00000428755:N203H;ENSP00000296930:N203H;ENSP00000377408:N203H	ENSP00000296930:N203H	N	+	1	0	NPM1	170760472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.985000	0.63845	1.747000	0.51819	0.459000	0.35465	AAT		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520	
STK10	6793	broad.mit.edu	37	5	171517361	171517361	+	Silent	SNP	C	C	T	rs148086376		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:171517361C>T	ENST00000176763.5	-	10	1903	c.1560G>A	c.(1558-1560)ccG>ccA	p.P520P	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	520			P -> L (in dbSNP:rs17074311).		cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P520P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACAGTTTCGGGTCCTGGC	0.532																																					p.P520P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1560A	5						.	C		1,4405	2.1+/-5.4	0,1,2202	191.0	178.0	183.0		1560	-9.2	0.1	5	dbSNP_134	183	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	STK10	NM_005990.3		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		520/969	171517361	3,13003	2203	4300	6503	171449966	SO:0001819	synonymous_variant	6793	exon10			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1560G>A	5.37:g.171517361C>T			171449966	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	CCDS34290.1																																																																																				0.532	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
SH3PXD2B	285590	broad.mit.edu	37	5	171765783	171765783	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:171765783G>T	ENST00000311601.5	-	13	2496	c.2326C>A	c.(2326-2328)Cca>Aca	p.P776T	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	776	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.P776T(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGACCTCTGGGAGCGGCCTG	0.617																																					p.P776T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2326A	5						.						41.0	44.0	43.0					5																	171765783		2203	4300	6503	171698388	SO:0001583	missense	285590	exon13			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.2326C>A	5.37:g.171765783G>T	ENSP00000309714:p.Pro776Thr		171698388	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257491	0.22965	.	.	ENSG00000174705	ENST00000311601	T	0.61510	0.1	5.29	4.41	0.53225	.	0.370433	0.28847	N	0.013942	T	0.43809	0.1264	L	0.32530	0.975	0.25513	N	0.987446	B	0.02656	0.0	B	0.04013	0.001	T	0.24190	-1.0167	9	.	.	.	-3.9149	10.9228	0.47174	0.0:0.0:0.6588:0.3412	.	776	A1X283	SPD2B_HUMAN	T	776	ENSP00000309714:P776T	.	P	-	1	0	SH3PXD2B	171698388	1.000000	0.71417	0.996000	0.52242	0.039000	0.13416	1.956000	0.40382	1.190000	0.43042	0.462000	0.41574	CCA		0.617	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
SH3PXD2B	285590	broad.mit.edu	37	5	171774307	171774307	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:171774307G>T	ENST00000311601.5	-	11	1212	c.1042C>A	c.(1042-1044)Cct>Act	p.P348T	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.P348T	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	348					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)	p.P348T(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCGGCGAGGAGGGGGTCTC	0.557																																					p.P348T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1042A	5						.						105.0	92.0	96.0					5																	171774307		2203	4300	6503	171706912	SO:0001583	missense	285590	exon11			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1042C>A	5.37:g.171774307G>T	ENSP00000309714:p.Pro348Thr		171706912	NM_001017995	B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280881	0.80692	.	.	ENSG00000174705	ENST00000519643;ENST00000311601	T;T	0.68181	0.25;-0.31	5.12	5.12	0.69794	.	0.056011	0.64402	D	0.000001	T	0.81024	0.4737	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82731	-0.0312	10	0.66056	D	0.02	-7.1639	16.4003	0.83639	0.0:0.0:1.0:0.0	.	348	A1X283	SPD2B_HUMAN	T	348	ENSP00000430890:P348T;ENSP00000309714:P348T	ENSP00000309714:P348T	P	-	1	0	SH3PXD2B	171706912	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.942000	0.92970	2.532000	0.85374	0.462000	0.41574	CCT		0.557	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	
CREBRF	153222	broad.mit.edu	37	5	172517654	172517654	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:172517654G>A	ENST00000296953.2	+	4	791	c.472G>A	c.(472-474)Gat>Aat	p.D158N	CREBRF_ENST00000522692.1_Missense_Mutation_p.D158N|CREBRF_ENST00000520420.1_Missense_Mutation_p.D158N|CREBRF_ENST00000540014.1_Missense_Mutation_p.D158N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	158					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D158N(1)									TTATTACCCCGATTCACTTTT	0.403																																					p.D158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	5						.						84.0	79.0	81.0					5																	172517654		2203	4300	6503	172450260	SO:0001583	missense	153222	exon4			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.472G>A	5.37:g.172517654G>A	ENSP00000296953:p.Asp158Asn		172450260	NM_001168393	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321696	0.81580	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	6.08	6.08	0.98989	.	0.137944	0.64402	D	0.000005	T	0.63010	0.2475	L	0.27053	0.805	0.54753	D	0.999989	P;P	0.39624	0.456;0.681	B;B	0.36885	0.158;0.235	T	0.66575	-0.5889	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	158;158	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	N	158	ENSP00000431107:D158N;ENSP00000296953:D158N;ENSP00000440075:D158N;ENSP00000428290:D158N	ENSP00000296953:D158N	D	+	1	0	C5orf41	172450260	1.000000	0.71417	0.919000	0.36401	0.961000	0.63080	7.639000	0.83342	2.894000	0.99253	0.655000	0.94253	GAT		0.403	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607	
CREBRF	153222	broad.mit.edu	37	5	172537650	172537650	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:172537650G>T	ENST00000296953.2	+	6	1862	c.1543G>T	c.(1543-1545)Gtc>Ttc	p.V515F	CREBRF_ENST00000540014.1_Missense_Mutation_p.V517F	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	515					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V515F(1)									CCTGACTCCAGTCAGTGAGCT	0.423																																					p.V515F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1543T	5						.						72.0	72.0	72.0					5																	172537650		2203	4300	6503	172470256	SO:0001583	missense	153222	exon6			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1543G>T	5.37:g.172537650G>T	ENSP00000296953:p.Val515Phe		172470256	NM_153607	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202625	0.94997	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.22945	1.93;1.93	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.51857	-0.8652	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	515	Q8IUR6	CE041_HUMAN	F	515;517;515;515	ENSP00000296953:V515F;ENSP00000440075:V517F	ENSP00000296953:V515F	V	+	1	0	C5orf41	172470256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.858000	0.99539	2.748000	0.94277	0.655000	0.94253	GTC		0.423	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607	
STC2	8614	broad.mit.edu	37	5	172752877	172752877	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:172752877A>G	ENST00000265087.4	-	2	1597	c.288T>C	c.(286-288)gaT>gaC	p.D96D	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	96					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.D96D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTACCTGGGCATCAAATTTTC	0.438																																					p.D96D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T288C	5						.						295.0	327.0	316.0					5																	172752877		2203	4300	6503	172685483	SO:0001819	synonymous_variant	8614	exon2			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.288T>C	5.37:g.172752877A>G			172685483	NM_003714		Silent	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651330	0.29336	.	.	ENSG00000113739	ENST00000520648	.	.	.	5.6	3.24	0.37175	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52177	-0.8610	4	.	.	.	-19.9261	9.3583	0.38179	0.7923:0.0:0.2077:0.0	.	.	.	.	R	50	.	.	C	-	1	0	STC2	172685483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.418000	0.52721	0.427000	0.26145	0.533000	0.62120	TGC		0.438	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714	
CPEB4	80315	broad.mit.edu	37	5	173376531	173376531	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:173376531C>T	ENST00000265085.5	+	6	2931	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	CPEB4_ENST00000520867.1_Missense_Mutation_p.R468C|CPEB4_ENST00000519835.1_Missense_Mutation_p.R468C|CPEB4_ENST00000517880.1_Missense_Mutation_p.R86C|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R476C|CPEB4_ENST00000522336.1_Missense_Mutation_p.R103C	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	493	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R493C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCTAGTTTTCGTCGCTTTGG	0.308																																					p.R493C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1477T	5						.						103.0	101.0	101.0					5																	173376531		2203	4300	6503	173309137	SO:0001583	missense	80315	exon6			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1477C>T	5.37:g.173376531C>T	ENSP00000265085:p.Arg493Cys		173309137	NM_030627	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004837	0.74932	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.9	5.9	0.94986	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050062	0.85682	D	0.000000	T	0.22003	0.0530	L	0.39692	1.235	0.80722	D	1	B;B;B;B;B	0.22211	0.052;0.019;0.066;0.006;0.024	B;B;B;B;B	0.30716	0.1;0.037;0.119;0.041;0.1	T	0.02484	-1.1152	10	0.56958	D	0.05	-12.8948	20.2683	0.98464	0.0:1.0:0.0:0.0	.	468;476;468;103;493	B7ZLQ8;Q17RY0-2;E5RJM0;E5RFP2;Q17RY0	.;.;.;.;CPEB4_HUMAN	C	493;468;476;468;103;86	ENSP00000265085:R493C;ENSP00000429092:R468C;ENSP00000334533:R476C;ENSP00000429048:R468C;ENSP00000430345:R103C;ENSP00000427990:R86C	ENSP00000265085:R493C	R	+	1	0	CPEB4	173309137	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.132000	0.50523	2.800000	0.96347	0.591000	0.81541	CGT		0.308	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	
THOC3	84321	broad.mit.edu	37	5	175387024	175387024	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:175387024C>A	ENST00000265097.4	-	6	1094	c.1004G>T	c.(1003-1005)aGc>aTc	p.S335I	RP11-91H12.4_ENST00000502813.1_RNA|THOC3_ENST00000514861.1_Missense_Mutation_p.S150I|THOC3_ENST00000510300.1_5'Flank	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	335					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.S335I(1)		endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TTCCCGGCTGCTGTCATATTT	0.552																																					p.S335I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1004T	5						.						15.0	19.0	17.0					5																	175387024		1932	3727	5659	175319630	SO:0001583	missense	84321	exon6			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.1004G>T	5.37:g.175387024C>A	ENSP00000265097:p.Ser335Ile		175319630	NM_032361	Q6NZ53	Missense_Mutation	SNP	ENST00000265097.4	37	CCDS4397.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865446	0.32977	.	.	ENSG00000051596	ENST00000265097;ENST00000514861	T;T	0.75821	0.19;-0.97	5.13	5.13	0.70059	.	0.108133	0.64402	D	0.000004	T	0.62551	0.2437	L	0.34521	1.04	0.80722	D	1	B	0.33413	0.411	B	0.31337	0.128	T	0.64457	-0.6403	10	0.48119	T	0.1	-20.1912	11.1085	0.48218	0.0:0.9152:0.0:0.0848	.	335	Q96J01	THOC3_HUMAN	I	335;150	ENSP00000265097:S335I;ENSP00000425039:S150I	ENSP00000265097:S335I	S	-	2	0	THOC3	175319630	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	2.623000	0.46435	2.380000	0.81148	0.609000	0.83330	AGC		0.552	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253148.1		
FAM153B	202134	broad.mit.edu	37	5	175528581	175528581	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:175528581G>A	ENST00000253490.4	+	12	718	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM153B_ENST00000510151.1_Missense_Mutation_p.E144K|FAM153B_ENST00000515817.1_Missense_Mutation_p.E144K|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	221								p.E221K(1)|p.E221*(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CACACTGGCCGAACGTACGTA	0.463																																					p.E221K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G661A	5						.						137.0	147.0	143.0					5																	175528581		2203	4300	6503	175461187	SO:0001583	missense	202134	exon12			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.661G>A	5.37:g.175528581G>A	ENSP00000253490:p.Glu221Lys		175461187	NM_001079529	A8MTI1	Missense_Mutation	SNP	ENST00000253490.4	37		.	.	.	.	.	.	.	.	.	.	G	9.067	0.995865	0.19043	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.752	-1.5	0.08691	.	.	.	.	.	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	B	0.32149	0.141	T	0.23976	-1.0173	8	0.41790	T	0.15	.	2.9269	0.05787	0.664:0.0:0.336:0.0	.	221	P0C7A2	F153B_HUMAN	K	144;221	.	ENSP00000253490:E221K	E	+	1	0	FAM153B	175461187	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.024000	0.12435	-0.193000	0.10415	-1.169000	0.01745	GAA		0.463	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001079529	
HK3	3101	broad.mit.edu	37	5	176318090	176318090	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176318090C>T	ENST00000292432.5	-	4	453	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	121	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.R121K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTGGCTTCTGGGCTCCAC	0.627																																					p.R121K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	5						.						59.0	59.0	59.0					5																	176318090		2203	4300	6503	176250696	SO:0001583	missense	3101	exon4				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.362G>A	5.37:g.176318090C>T	ENSP00000292432:p.Arg121Lys		176250696	NM_002115	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764699	0.31228	.	.	ENSG00000160883	ENST00000292432	D	0.98105	-4.72	4.96	2.04	0.26737	Hexokinase, N-terminal (1);	0.246767	0.30068	N	0.010490	D	0.87220	0.6123	N	0.01352	-0.895	0.25726	N	0.985329	B	0.02656	0.0	B	0.15052	0.012	T	0.79776	-0.1661	10	0.24483	T	0.36	.	2.4991	0.04629	0.2131:0.4444:0.0:0.3425	.	121	P52790	HXK3_HUMAN	K	121	ENSP00000292432:R121K	ENSP00000292432:R121K	R	-	2	0	HK3	176250696	0.976000	0.34144	1.000000	0.80357	0.991000	0.79684	0.430000	0.21428	1.222000	0.43521	0.561000	0.74099	AGA		0.627	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
UIMC1	51720	broad.mit.edu	37	5	176395702	176395702	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176395702C>A	ENST00000377227.4	-	6	1186	c.1054G>T	c.(1054-1056)Gat>Tat	p.D352Y	UIMC1_ENST00000511320.1_Missense_Mutation_p.D352Y|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377219.2_Missense_Mutation_p.D352Y			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	352	AIR.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.D352Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCCATATCTTCTGAGATG	0.453																																					p.D352Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1054T	5						.						164.0	156.0	159.0					5																	176395702		2203	4300	6503	176328308	SO:0001583	missense	51720	exon6			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1054G>T	5.37:g.176395702C>A	ENSP00000366434:p.Asp352Tyr		176328308	NM_001199298	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178604	0.57692	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000377220	T;T;T	0.29917	1.55;1.55;1.55	5.88	5.0	0.66597	.	0.127873	0.48767	D	0.000179	T	0.51092	0.1654	M	0.61703	1.905	0.46927	D	0.999251	D;D	0.76494	0.999;0.998	D;D	0.65443	0.935;0.935	T	0.50866	-0.8777	10	0.72032	D	0.01	.	15.3007	0.73949	0.0:0.9319:0.0:0.0681	.	352;274	Q96RL1;Q96RL1-3	UIMC1_HUMAN;.	Y	352;352;352;274	ENSP00000366434:D352Y;ENSP00000366425:D352Y;ENSP00000421926:D352Y	ENSP00000366425:D352Y	D	-	1	0	UIMC1	176328308	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.708000	0.54845	2.785000	0.95823	0.650000	0.86243	GAT		0.453	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290	
ZNF346	23567	broad.mit.edu	37	5	176477784	176477784	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176477784G>T	ENST00000358149.3	+	5	593	c.550G>T	c.(550-552)Gac>Tac	p.D184Y	ZNF346_ENST00000511834.1_Missense_Mutation_p.D200Y|ZNF346_ENST00000503425.1_Missense_Mutation_p.D152Y|ZNF346_ENST00000506693.1_Missense_Mutation_p.D86Y|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.D209Y|ZNF346_ENST00000503039.1_Missense_Mutation_p.D209Y|ZNF346-IT1_ENST00000515264.1_RNA	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	184					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D184Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATAGACCCAGACAAGTTCTG	0.473																																					p.D184Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G550T	5						.						110.0	104.0	106.0					5																	176477784		2203	4300	6503	176410390	SO:0001583	missense	23567	exon5			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.550G>T	5.37:g.176477784G>T	ENSP00000350869:p.Asp184Tyr		176410390	NM_012279	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021937	0.75275	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.47	5.47	0.80525	Zinc finger, U1-type (1);	0.232106	0.49305	D	0.000156	T	0.61986	0.2391	M	0.77103	2.36	0.35412	D	0.792535	D;D;D;D	0.62365	0.98;0.971;0.991;0.971	P;P;D;P	0.64144	0.73;0.789;0.922;0.691	T	0.72846	-0.4169	10	0.54805	T	0.06	.	12.6395	0.56702	0.0755:0.0:0.9245:0.0	.	86;152;209;184	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	Y	184;86;152;209;200;209	ENSP00000350869:D184Y;ENSP00000423515:D86Y;ENSP00000421212:D152Y;ENSP00000261948:D209Y;ENSP00000425725:D200Y;ENSP00000424495:D209Y	ENSP00000261948:D209Y	D	+	1	0	ZNF346	176410390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.783000	0.62403	2.544000	0.85801	0.655000	0.94253	GAC		0.473	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279	
NSD1	64324	broad.mit.edu	37	5	176665503	176665503	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176665503C>T	ENST00000439151.2	+	7	4232	c.4187C>T	c.(4186-4188)aCg>aTg	p.T1396M	NSD1_ENST00000347982.4_Missense_Mutation_p.T1127M|NSD1_ENST00000361032.4_Missense_Mutation_p.T1293M|NSD1_ENST00000354179.4_Missense_Mutation_p.T1127M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1396					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T1396M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTAGTTAAAACGCCAGGTAAG	0.488			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.T1396M			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4187T	5						.						82.0	84.0	84.0					5																	176665503		2203	4300	6503	176598109	SO:0001583	missense	64324	exon7	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4187C>T	5.37:g.176665503C>T	ENSP00000395929:p.Thr1396Met		176598109	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546017	0.65198	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93133	-3.06;-3.06;-3.06;-3.17	4.58	4.58	0.56647	.	0.296239	0.28952	N	0.013609	D	0.88209	0.6375	N	0.14661	0.345	0.29239	N	0.872729	P;D;D	0.60575	0.726;0.986;0.988	B;B;P	0.46339	0.276;0.385;0.513	D	0.85465	0.1169	10	0.72032	D	0.01	.	13.1909	0.59711	0.0:1.0:0.0:0.0	.	1127;1293;1396	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1127;1396;1127;1293	ENSP00000346111:T1127M;ENSP00000395929:T1396M;ENSP00000343209:T1127M;ENSP00000354310:T1293M	ENSP00000343209:T1127M	T	+	2	0	NSD1	176598109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.688000	0.37690	2.832000	0.97577	0.655000	0.94253	ACG		0.488	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176671259	176671259	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176671259G>T	ENST00000439151.2	+	9	4411	c.4366G>T	c.(4366-4368)Gat>Tat	p.D1456Y	NSD1_ENST00000347982.4_Missense_Mutation_p.D1187Y|NSD1_ENST00000361032.4_Missense_Mutation_p.D1353Y|NSD1_ENST00000354179.4_Missense_Mutation_p.D1187Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1456					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D1456Y(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTATTCAAAAGATTTTGGTGG	0.343			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.D1456Y			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4366T	5						.						106.0	98.0	100.0					5																	176671259		2203	4300	6503	176603865	SO:0001583	missense	64324	exon9	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4366G>T	5.37:g.176671259G>T	ENSP00000395929:p.Asp1456Tyr		176603865	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523663	0.44866	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93547	-3.13;-3.14;-3.13;-3.24	5.32	3.52	0.40303	.	0.393706	0.24294	N	0.039792	D	0.87301	0.6143	N	0.08118	0	0.26704	N	0.971108	P;P;P	0.42649	0.547;0.786;0.681	B;P;B	0.47251	0.347;0.542;0.119	T	0.81344	-0.0975	10	0.87932	D	0	.	8.8712	0.35316	0.0819:0.1495:0.7686:0.0	.	1187;1353;1456	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Y	1187;1456;1187;1353	ENSP00000346111:D1187Y;ENSP00000395929:D1456Y;ENSP00000343209:D1187Y;ENSP00000354310:D1353Y	ENSP00000343209:D1187Y	D	+	1	0	NSD1	176603865	1.000000	0.71417	0.938000	0.37757	0.579000	0.36224	2.496000	0.45346	0.723000	0.32274	0.655000	0.94253	GAT		0.343	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
LMAN2	10960	broad.mit.edu	37	5	176764467	176764467	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176764467C>T	ENST00000303127.7	-	5	776	c.572G>A	c.(571-573)aGc>aAc	p.S191N	LMAN2_ENST00000515209.1_Missense_Mutation_p.S191N|LMAN2_ENST00000506310.1_Splice_Site	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	191	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.S191N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATCCTTGCTGTGGTCGTA	0.637																																					p.S191N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572A	5						.						86.0	72.0	76.0					5																	176764467		2203	4300	6503	176697073	SO:0001583	missense	10960	exon5			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.572G>A	5.37:g.176764467C>T	ENSP00000303366:p.Ser191Asn		176697073	NM_006816	Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631361	0.87660	.	.	ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209;ENST00000502560;ENST00000513877	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.040953	0.85682	D	0.000000	T	0.54240	0.1846	L	0.31420	0.93	0.47819	D	0.99952	B;B	0.34349	0.146;0.45	B;B	0.33196	0.036;0.159	T	0.51236	-0.8731	10	0.38643	T	0.18	-13.6504	20.0665	0.97706	0.0:1.0:0.0:0.0	.	191;191	Q12907;D6RBV2	LMAN2_HUMAN;.	N	191;120;191;184;120	ENSP00000303366:S191N;ENSP00000423998:S191N;ENSP00000425229:S184N;ENSP00000427377:S120N	ENSP00000303366:S191N	S	-	2	0	LMAN2	176697073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.022000	0.70839	2.847000	0.97988	0.591000	0.81541	AGC		0.637	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816	
DBN1	1627	broad.mit.edu	37	5	176887509	176887509	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:176887509G>T	ENST00000309007.5	-	10	1098	c.879C>A	c.(877-879)ttC>ttA	p.F293L	DBN1_ENST00000512501.1_Missense_Mutation_p.F25L|DBN1_ENST00000393565.1_Missense_Mutation_p.F293L|DBN1_ENST00000292385.5_Missense_Mutation_p.F295L|DBN1_ENST00000393563.4_Missense_Mutation_p.F25L	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	293					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.F293L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCTTGAAGAACTCCCTTG	0.612																																					p.F295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C885A	5						.						166.0	160.0	162.0					5																	176887509		2203	4300	6503	176820115	SO:0001583	missense	1627	exon11				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.879C>A	5.37:g.176887509G>T	ENSP00000308532:p.Phe293Leu		176820115	NM_080881	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674418	0.67928	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563;ENST00000477391	T;T;T;T;T	0.63580	1.55;1.54;1.49;-0.05;0.41	4.54	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	L	0.52364	1.645	0.42043	D	0.991082	D;D;D;D	0.76494	0.99;0.999;0.997;0.998	D;D;D;D	0.76071	0.979;0.986;0.97;0.987	T	0.67401	-0.5680	10	0.44086	T	0.13	-4.762	9.7068	0.40220	0.1734:0.0:0.8266:0.0	.	243;293;293;295	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	L	293;295;293;25;25;292	ENSP00000308532:F293L;ENSP00000292385:F295L;ENSP00000377195:F293L;ENSP00000423208:F25L;ENSP00000377193:F25L	ENSP00000292385:F295L	F	-	3	2	DBN1	176820115	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.941000	0.56607	0.555000	0.29079	-0.258000	0.10820	TTC		0.612	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
N4BP3	23138	broad.mit.edu	37	5	177548554	177548554	+	Missense_Mutation	SNP	C	C	T	rs187860405		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:177548554C>T	ENST00000274605.5	+	5	1546	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	396						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)		p.A396V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAAGCTGGCGGAGATCTTC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17137	0.0		0.0	False		,,,				2504	0.0				p.A396V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187T	5						.						78.0	88.0	84.0					5																	177548554		2203	4300	6503	177481160	SO:0001583	missense	23138	exon5			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.1187C>T	5.37:g.177548554C>T	ENSP00000274605:p.Ala396Val		177481160	NM_015111	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	CCDS34307.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	25.8	4.673118	0.88445	.	.	ENSG00000145911	ENST00000274605	T	0.46819	0.86	5.05	5.05	0.67936	.	0.095669	0.64402	D	0.000001	T	0.54727	0.1876	L	0.36672	1.1	0.39949	D	0.97451	D	0.76494	0.999	D	0.65573	0.936	T	0.55270	-0.8167	10	0.42905	T	0.14	-10.2065	11.7713	0.51960	0.0:0.8224:0.1776:0.0	.	396	O15049	N4BP3_HUMAN	V	396	ENSP00000274605:A396V	ENSP00000274605:A396V	A	+	2	0	N4BP3	177481160	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	5.873000	0.69644	2.362000	0.80069	0.561000	0.74099	GCG		0.642	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111	
PHYKPL	85007	broad.mit.edu	37	5	177637267	177637267	+	Intron	SNP	G	G	A	rs528992480		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:177637267G>A	ENST00000308158.5	-	13	1619				HNRNPAB_ENST00000506339.1_Missense_Mutation_p.D303N|HNRNPAB_ENST00000506259.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.D308N|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.D308N|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000515193.1_Intron|HNRNPAB_ENST00000355836.5_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.D308N(1)								L-Alanine(DB00160)	CCCCGGCTACGACTACAGTAA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15948	0.0		0.001	False		,,,				2504	0.0				p.D308N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G922A	5						.						34.0	36.0	35.0					5																	177637267		2203	4300	6503	177569873	SO:0001627	intron_variant	3182	exon7			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-1351C>T	5.37:g.177637267G>A			177569873	NM_031266	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956114	0.53293	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000504898	D;D;D	0.89343	-2.5;-2.5;-2.5	5.97	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.88206	0.6374	M	0.89095	3.005	0.80722	D	1	B	0.32526	0.374	B	0.19391	0.025	D	0.84840	0.0807	10	0.35671	T	0.21	.	10.8245	0.46625	0.1516:0.0:0.8484:0.0	.	308	Q99729-2	.	N	308;303;308	ENSP00000351108:D308N;ENSP00000422501:D303N;ENSP00000425031:D308N	ENSP00000351108:D308N	D	+	1	0	HNRNPAB	177569873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	0.864000	0.35578	0.655000	0.94253	GAC		0.637	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921	
COL23A1	91522	broad.mit.edu	37	5	177669362	177669362	+	Missense_Mutation	SNP	G	G	A	rs201802684		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:177669362G>A	ENST00000390654.3	-	26	1831	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	492	Collagen-like 5.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R492W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CGCTCGCTCCGATCACCTTTC	0.602																																					p.R492W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1474T	5						.						56.0	61.0	60.0					5																	177669362		2065	4203	6268	177601968	SO:0001583	missense	91522	exon26			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1474C>T	5.37:g.177669362G>A	ENSP00000375069:p.Arg492Trp		177601968	NM_173465	Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423671	0.43020	.	.	ENSG00000050767	ENST00000390654	D	0.96200	-3.94	4.6	2.53	0.30540	.	0.104701	0.37577	N	0.002036	D	0.96103	0.8730	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.94974	0.8119	10	0.62326	D	0.03	-0.3945	8.7521	0.34622	0.0:0.0:0.4903:0.5097	.	492	Q86Y22	CONA1_HUMAN	W	492	ENSP00000375069:R492W	ENSP00000375069:R492W	R	-	1	2	COL23A1	177601968	0.996000	0.38824	0.991000	0.47740	0.946000	0.59487	2.143000	0.42187	0.896000	0.36366	0.455000	0.32223	CGG		0.602	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	
ZNF354A	6940	broad.mit.edu	37	5	178139180	178139180	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178139180C>T	ENST00000335815.2	-	5	1896	c.1699G>A	c.(1699-1701)Gca>Aca	p.A567T		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	567					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A567T(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CTCTGATGTGCAATACGTGAT	0.343																																					p.A567T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1699A	5						.						92.0	90.0	91.0					5																	178139180		2203	4300	6503	178071786	SO:0001583	missense	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1699G>A	5.37:g.178139180C>T	ENSP00000337122:p.Ala567Thr		178071786	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885798	0.33348	.	.	ENSG00000169131	ENST00000335815	T	0.01015	5.44	4.7	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32819	N	0.005601	T	0.01287	0.0042	N	0.10874	0.06	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.60895	-0.7172	10	0.12766	T	0.61	-2.4028	6.4063	0.21666	0.0:0.8069:0.0:0.1931	.	567	O60765	Z354A_HUMAN	T	567	ENSP00000337122:A567T	ENSP00000337122:A567T	A	-	1	0	ZNF354A	178071786	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	-0.112000	0.10791	2.589000	0.87451	0.650000	0.86243	GCA		0.343	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
ZNF354B	117608	broad.mit.edu	37	5	178309990	178309990	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178309990T>C	ENST00000322434.3	+	5	763	c.537T>C	c.(535-537)ttT>ttC	p.F179F	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F179F(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACAGAGATTTGCTAAAGAAA	0.308																																					p.F179F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T537C	5						.						32.0	34.0	33.0					5																	178309990		2192	4285	6477	178242596	SO:0001819	synonymous_variant	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.537T>C	5.37:g.178309990T>C			178242596	NM_058230	A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	CCDS4439.1																																																																																				0.308	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZNF354B	117608	broad.mit.edu	37	5	178310238	178310238	+	Missense_Mutation	SNP	G	G	T	rs564522787		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178310238G>T	ENST00000322434.3	+	5	1011	c.785G>T	c.(784-786)aGa>aTa	p.R262I	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R262I(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACATCAAAGAACTCATACA	0.363																																					p.R262I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785T	5						.						60.0	68.0	66.0					5																	178310238		2202	4299	6501	178242844	SO:0001583	missense	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.785G>T	5.37:g.178310238G>T	ENSP00000327143:p.Arg262Ile		178242844	NM_058230	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342395	0.24339	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18341	0.0440	M	0.66506	2.035	0.44067	D	0.996813	P	0.43788	0.817	B	0.34536	0.185	T	0.10086	-1.0645	9	0.45353	T	0.12	.	1.9258	0.03316	0.1225:0.2016:0.4694:0.2066	.	262	Q96LW1	Z354B_HUMAN	I	262	ENSP00000327143:R262I	ENSP00000327143:R262I	R	+	2	0	ZNF354B	178242844	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.841000	0.27613	0.549000	0.28973	0.561000	0.74099	AGA		0.363	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	G	T	rs376749929		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178358763G>T	ENST00000361362.2	+	5	979	c.449G>T	c.(448-450)aGa>aTa	p.R150I	ZFP2_ENST00000523286.1_Missense_Mutation_p.R150I|ZFP2_ENST00000520301.1_Missense_Mutation_p.R150I|ZFP2_ENST00000503510.2_Missense_Mutation_p.R150I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	150					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.R150I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413																																					p.R150I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G449T	5						.	G	ILE/ARG	0,4406		0,0,2203	52.0	55.0	54.0		449	3.8	1.0	5		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZFP2	NM_030613.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	150/462	178358763	1,13005	2203	4300	6503	178291369	SO:0001583	missense	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.449G>T	5.37:g.178358763G>T	ENSP00000354453:p.Arg150Ile		178291369	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.915461	0.52546	0.0	1.16E-4	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.71	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35151	N	0.003406	T	0.50922	0.1644	M	0.80332	2.49	0.47183	D	0.99934	D	0.89917	1.0	D	0.85130	0.997	T	0.54964	-0.8214	10	0.56958	D	0.05	-15.0571	12.0605	0.53561	0.0:0.0:0.8266:0.1734	.	150	Q6ZN57	ZFP2_HUMAN	I	150	ENSP00000354453:R150I;ENSP00000430980:R150I;ENSP00000430531:R150I;ENSP00000438114:R150I	ENSP00000354453:R150I	R	+	2	0	ZFP2	178291369	0.080000	0.21391	1.000000	0.80357	0.837000	0.47467	2.428000	0.44749	1.176000	0.42840	0.591000	0.81541	AGA		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
ZNF454	285676	broad.mit.edu	37	5	178391963	178391963	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178391963C>A	ENST00000320129.3	+	5	861	c.558C>A	c.(556-558)gtC>gtA	p.V186V	ZNF454_ENST00000519564.1_Silent_p.V186V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	186					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.V186V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGGAAAAGTCTTCTCTAAGA	0.343																																					p.V186V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C558A	5						.						52.0	54.0	53.0					5																	178391963		2203	4300	6503	178324569	SO:0001819	synonymous_variant	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.558C>A	5.37:g.178391963C>A			178324569	NM_182594	Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	CCDS4441.1																																																																																				0.343	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF454	285676	broad.mit.edu	37	5	178392328	178392328	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178392328C>T	ENST00000320129.3	+	5	1226	c.923C>T	c.(922-924)gCc>gTc	p.A308V	ZNF454_ENST00000519564.1_Missense_Mutation_p.A308V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A308V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGTGAAAAAGCCTTTGTGTGC	0.373																																					p.A308V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C923T	5						.						50.0	54.0	53.0					5																	178392328		2203	4300	6503	178324934	SO:0001583	missense	285676	exon5			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.923C>T	5.37:g.178392328C>T	ENSP00000326249:p.Ala308Val		178324934	NM_182594	Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756395	0.31137	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.13778	2.56;2.56	4.45	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41001	D	0.000974	T	0.21881	0.0527	L	0.40543	1.245	0.29475	N	0.856755	D	0.57257	0.979	P	0.60236	0.871	T	0.00837	-1.1546	10	0.56958	D	0.05	-10.2114	10.4618	0.44583	0.0:0.6918:0.3082:0.0	.	308	Q8N9F8	ZN454_HUMAN	V	308	ENSP00000326249:A308V;ENSP00000430354:A308V	ENSP00000326249:A308V	A	+	2	0	ZNF454	178324934	0.000000	0.05858	1.000000	0.80357	0.050000	0.14768	0.072000	0.14617	2.462000	0.83206	0.650000	0.86243	GCC		0.373	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718	
ZNF354C	30832	broad.mit.edu	37	5	178505686	178505686	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178505686T>G	ENST00000315475.6	+	5	559	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	85					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.F85V(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CATTTTAGGTTTCAAGACTTG	0.363																																					p.F85V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T253G	5						.						39.0	41.0	40.0					5																	178505686		2200	4300	6500	178438292	SO:0001583	missense	30832	exon5				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.253T>G	5.37:g.178505686T>G	ENSP00000324064:p.Phe85Val		178438292	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	T	1.175	-0.639753	0.03557	.	.	ENSG00000177932	ENST00000315475	T	0.04809	3.55	4.09	2.82	0.32997	.	.	.	.	.	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.19946	0.027	T	0.45585	-0.9251	9	0.19590	T	0.45	-6.0203	4.4743	0.11727	0.1931:0.0:0.2005:0.6064	.	85	Q86Y25	Z354C_HUMAN	V	85	ENSP00000324064:F85V	ENSP00000324064:F85V	F	+	1	0	ZNF354C	178438292	0.000000	0.05858	0.975000	0.42487	0.214000	0.24535	-0.098000	0.11024	1.826000	0.53198	0.482000	0.46254	TTC		0.363	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
ZNF354C	30832	broad.mit.edu	37	5	178506660	178506660	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:178506660A>C	ENST00000315475.6	+	5	1533	c.1227A>C	c.(1225-1227)caA>caC	p.Q409H		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	409					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.Q409H(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ACACTGGACAAAAACCTTATC	0.393																																					p.Q409H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1227C	5						.						125.0	123.0	124.0					5																	178506660		2203	4300	6503	178439266	SO:0001583	missense	30832	exon5				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1227A>C	5.37:g.178506660A>C	ENSP00000324064:p.Gln409His		178439266	NM_014594	Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931259	0.34096	.	.	ENSG00000177932	ENST00000315475	T	0.19250	2.16	4.22	1.93	0.25924	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31638	0.0803	L	0.45352	1.415	0.35669	D	0.813153	D	0.71674	0.998	D	0.68943	0.961	T	0.33085	-0.9882	9	0.87932	D	0	-16.8824	6.66	0.23009	0.3173:0.0:0.6827:0.0	.	409	Q86Y25	Z354C_HUMAN	H	409	ENSP00000324064:Q409H	ENSP00000324064:Q409H	Q	+	3	2	ZNF354C	178439266	0.998000	0.40836	0.978000	0.43139	0.256000	0.26092	0.339000	0.19875	0.281000	0.22233	0.482000	0.46254	CAA		0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
MAML1	9794	broad.mit.edu	37	5	179193383	179193383	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:179193383G>T	ENST00000292599.3	+	2	1635	c.1372G>T	c.(1372-1374)Gac>Tac	p.D458Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.D458Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACAAGCAAGACTTCACTAA	0.582																																					p.D458Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1372T	5						.						88.0	94.0	92.0					5																	179193383		2203	4300	6503	179125989	SO:0001583	missense	9794	exon2			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1372G>T	5.37:g.179193383G>T	ENSP00000292599:p.Asp458Tyr		179125989	NM_014757		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943448	0.53079	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.26223	1.75	5.18	5.18	0.71444	.	0.132935	0.51477	D	0.000090	T	0.49490	0.1560	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.68353	0.957;0.838	T	0.49293	-0.8955	10	0.59425	D	0.04	-18.7028	18.6847	0.91559	0.0:0.0:1.0:0.0	.	495;458	Q59GH4;Q92585	.;MAML1_HUMAN	Y	458;495	ENSP00000292599:D458Y	ENSP00000292599:D458Y	D	+	1	0	MAML1	179125989	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	9.143000	0.94623	2.415000	0.81967	0.563000	0.77884	GAC		0.582	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
RASGEF1C	255426	broad.mit.edu	37	5	179541508	179541508	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:179541508C>A	ENST00000393371.2	-	10	1413	c.1117G>T	c.(1117-1119)Gac>Tac	p.D373Y	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.D222Y|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.D373Y			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	373	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.D373Y(1)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTAGATGTCTTTGATGAGC	0.602																																					p.D373Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1117T	5						.						75.0	61.0	65.0					5																	179541508		2203	4300	6503	179474114	SO:0001583	missense	255426	exon11			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1117G>T	5.37:g.179541508C>A	ENSP00000377037:p.Asp373Tyr		179474114	NM_175062	D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970313	0.74246	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.54479	0.57;0.57;0.57	4.58	3.71	0.42584	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.053240	0.64402	D	0.000001	T	0.80358	0.4608	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84833	0.0803	10	0.87932	D	0	.	10.8943	0.47012	0.0:0.9056:0.0:0.0944	.	373	Q8N431	RGF1C_HUMAN	Y	373;373;222	ENSP00000354963:D373Y;ENSP00000377037:D373Y;ENSP00000429114:D222Y	ENSP00000354963:D373Y	D	-	1	0	RASGEF1C	179474114	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.300000	0.65721	1.058000	0.40530	0.313000	0.20887	GAC		0.602	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062	
MAPK9	5601	broad.mit.edu	37	5	179669588	179669588	+	Nonsense_Mutation	SNP	G	G	A	rs373601817		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:179669588G>A	ENST00000452135.2	-	8	1154	c.856C>T	c.(856-858)Cga>Tga	p.R286*	MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000393360.3_Nonsense_Mutation_p.R286*|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Nonsense_Mutation_p.R286*|MAPK9_ENST00000343111.6_Nonsense_Mutation_p.R286*			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R286*(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTTGTCTCGCTCAGATTCT	0.343																																					p.R286X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C856T	5						.	G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	95.0	96.0		856,856,856,856	2.6	1.0	5		96	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained,stop-gained	MAPK9	NM_002752.4,NM_139068.2,NM_139069.2,NM_139070.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	286/425,286/383,286/383,286/425	179669588	1,13005	2203	4300	6503	179602194	SO:0001587	stop_gained	5601	exon8			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.856C>T	5.37:g.179669588G>A	ENSP00000394560:p.Arg286*		179602194	NM_139070	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Nonsense_Mutation	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	36	5.967603	0.97156	2.27E-4	0.0	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111	.	.	.	5.5	2.56	0.30785	.	0.070953	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.6091	9.3065	0.37878	0.0682:0.0:0.675:0.2567	.	.	.	.	X	286	.	ENSP00000345524:R286X	R	-	1	2	MAPK9	179602194	1.000000	0.71417	0.989000	0.46669	0.664000	0.39144	5.382000	0.66213	0.667000	0.31107	0.650000	0.86243	CGA		0.343	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
GFPT2	9945	broad.mit.edu	37	5	179729564	179729564	+	Silent	SNP	G	G	A	rs368071602		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:179729564G>A	ENST00000253778.8	-	18	2032	c.1863C>T	c.(1861-1863)tgC>tgT	p.C621C		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	621	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.C621C(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CGTCCTTGGAGCACAGTATAA	0.488																																					p.C621C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1863T	5						.	G		0,4112		0,0,2056	120.0	120.0	120.0		1863	2.4	1.0	5		120	4,8414		0,4,4205	no	coding-synonymous	GFPT2	NM_005110.2		0,4,6261	AA,AG,GG		0.0475,0.0,0.0319		621/683	179729564	4,12526	2056	4209	6265	179662170	SO:0001819	synonymous_variant	9945	exon18			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1863C>T	5.37:g.179729564G>A			179662170	NM_005110	Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	CCDS43411.1																																																																																				0.488	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	
CNOT6	57472	broad.mit.edu	37	5	179996148	179996148	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:179996148C>A	ENST00000393356.1	+	12	1490	c.1066C>A	c.(1066-1068)Ctt>Att	p.L356I	CNOT6_ENST00000261951.4_Missense_Mutation_p.L356I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	356	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)	p.L356I(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		ACAACTTATTCTTGTGGCTAA	0.398																																					p.L356I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1066A	5						.						74.0	73.0	73.0					5																	179996148		2203	4300	6503	179928754	SO:0001583	missense	57472	exon10			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1066C>A	5.37:g.179996148C>A	ENSP00000377024:p.Leu356Ile		179928754	NM_015455	A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	C	4.794	0.147671	0.09134	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	D;D	0.82433	-1.61;-1.61	6.04	6.04	0.98038	Endonuclease/exonuclease/phosphatase (2);	0.060511	0.64402	D	0.000002	T	0.72827	0.3509	N	0.20328	0.56	0.80722	D	1	B	0.20052	0.041	B	0.24269	0.052	T	0.66156	-0.5994	9	.	.	.	-10.7688	15.3271	0.74172	0.1397:0.8603:0.0:0.0	.	356	Q9ULM6	CNOT6_HUMAN	I	356	ENSP00000261951:L356I;ENSP00000377024:L356I	.	L	+	1	0	CNOT6	179928754	1.000000	0.71417	0.972000	0.41901	0.022000	0.10575	3.108000	0.50337	2.873000	0.98535	0.563000	0.77884	CTT		0.398	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455	
MGAT1	4245	broad.mit.edu	37	5	180219025	180219025	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:180219025C>T	ENST00000446023.2	-	3	1697	c.947G>A	c.(946-948)cGc>cAc	p.R316H	MGAT1_ENST00000427865.2_Missense_Mutation_p.R316H|MGAT1_ENST00000333055.3_Missense_Mutation_p.R316H|MGAT1_ENST00000307826.4_Missense_Mutation_p.R316H|MGAT1_ENST00000393340.3_Missense_Mutation_p.R316H	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	316					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.R316H(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCCTTGCGGCCAAAGGT	0.597																																					p.R316H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G947A	5						.						65.0	71.0	69.0					5																	180219025		2203	4300	6503	180151631	SO:0001583	missense	4245	exon2			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.947G>A	5.37:g.180219025C>T	ENSP00000404718:p.Arg316His		180151631	NM_002406	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733411	0.89482	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90748	0.4655	10	0.72032	D	0.01	-18.5842	16.6011	0.84816	0.0:1.0:0.0:0.0	.	316	P26572	MGAT1_HUMAN	H	316;316;316;316;173;316	ENSP00000332073:R316H;ENSP00000311888:R316H;ENSP00000404718:R316H;ENSP00000377010:R316H;ENSP00000402838:R316H	ENSP00000311888:R316H	R	-	2	0	MGAT1	180151631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.055000	0.76656	2.586000	0.87340	0.655000	0.94253	CGC		0.597	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618	
BTNL3	10917	broad.mit.edu	37	5	180432406	180432406	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:180432406G>T	ENST00000342868.6	+	8	1119	c.935G>T	c.(934-936)aGa>aTa	p.R312I	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	312	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.R312I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GTAACCCATAGAAAAGCTCCC	0.542																																					p.R312I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935T	5						.						50.0	56.0	54.0					5																	180432406		2193	4294	6487	180365012	SO:0001583	missense	10917	exon8			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.935G>T	5.37:g.180432406G>T	ENSP00000341787:p.Arg312Ile		180365012	NM_197975	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360655	0.24598	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.10860	2.83	2.55	-0.734	0.11140	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.18551	0.0445	L	0.45698	1.435	0.09310	N	1	D;D	0.67145	0.996;0.99	D;P	0.63488	0.915;0.728	T	0.16070	-1.0415	9	0.37606	T	0.19	.	7.1614	0.25667	0.4042:0.0:0.5958:0.0	.	278;312	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	I	312;278	ENSP00000341787:R312I	ENSP00000341787:R312I	R	+	2	0	BTNL3	180365012	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.134000	0.10436	-0.148000	0.11234	0.184000	0.17185	AGA		0.542	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975	
TRIM41	90933	broad.mit.edu	37	5	180651714	180651714	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:180651714G>A	ENST00000315073.5	+	1	1425	c.715G>A	c.(715-717)Gag>Aag	p.E239K	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E239K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	239					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E239K(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCTTCTGCGAGGTAGACGA	0.592																																					p.E239K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G715A	5						.						70.0	61.0	64.0					5																	180651714		2203	4300	6503	180584320	SO:0001583	missense	90933	exon1			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.715G>A	5.37:g.180651714G>A	ENSP00000320869:p.Glu239Lys		180584320	NM_033549	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544899	0.45280	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.42131	0.98;0.98	5.01	4.14	0.48551	Zinc finger, B-box (3);	0.000000	0.53938	D	0.000041	T	0.40815	0.1132	N	0.16743	0.435	0.37560	D	0.919045	D;B;B	0.71674	0.998;0.038;0.038	P;B;B	0.60415	0.874;0.008;0.008	T	0.37361	-0.9709	10	0.30078	T	0.28	.	11.1244	0.48308	0.0909:0.0:0.9091:0.0	.	239;239;239	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	K	239;239;118	ENSP00000336749:E239K;ENSP00000320869:E239K	ENSP00000320869:E239K	E	+	1	0	TRIM41	180584320	0.973000	0.33851	1.000000	0.80357	0.983000	0.72400	1.741000	0.38238	1.088000	0.41272	0.491000	0.48974	GAG		0.592	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
PLEKHG4B	153478	broad.mit.edu	37	5	156195	156195	+	Missense_Mutation	SNP	G	G	A	rs138938524		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:156195G>A	ENST00000283426.6	+	8	1200	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	384							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E384K(2)|p.E384*(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGTCGCCGAGTTAATTGA	0.582																																					p.E384K												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|ovary(1)	c.G1150A	5						.	G	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	125.0	116.0	119.0		1150	0.6	0.0	5	dbSNP_134	119	0,8600		0,0,4300	no	missense	PLEKHG4B	NM_052909.3	56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	384/1272	156195	3,13003	2203	4300	6503	209195	SO:0001583	missense	153478	exon8			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1150G>A	5.37:g.156195G>A	ENSP00000283426:p.Glu384Lys		209195	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334320	0.41297	6.81E-4	0.0	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;2.98	3.65	0.651	0.17817	.	.	.	.	.	T	0.30386	0.0763	M	0.63843	1.955	0.09310	N	1	D	0.67145	0.996	P	0.50570	0.644	T	0.17776	-1.0358	9	0.16420	T	0.52	.	2.1558	0.03811	0.1172:0.1948:0.4879:0.2001	.	384	Q96PX9	PKH4B_HUMAN	K	384;298	ENSP00000283426:E384K;ENSP00000422493:E298K	ENSP00000283426:E384K	E	+	1	0	PLEKHG4B	209195	0.997000	0.39634	0.000000	0.03702	0.006000	0.05464	5.044000	0.64214	-0.241000	0.09681	-0.373000	0.07131	GAG		0.582	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
PLEKHG4B	153478	broad.mit.edu	37	5	169510	169510	+	Silent	SNP	C	C	A	rs149174138	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:169510C>A	ENST00000283426.6	+	12	2514	c.2464C>A	c.(2464-2466)Cgg>Agg	p.R822R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	822	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552																																					p.R822R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2464A	5						.						133.0	136.0	135.0					5																	169510		2203	4300	6503	222510	SO:0001819	synonymous_variant	153478	exon12			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2464C>A	5.37:g.169510C>A			222510	NM_052909		Silent	SNP	ENST00000283426.6	37	CCDS34124.1																																																																																				0.552	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
CEP72	55722	broad.mit.edu	37	5	644452	644452	+	Missense_Mutation	SNP	G	G	T	rs556441577		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:644452G>T	ENST00000264935.5	+	10	1668	c.1578G>T	c.(1576-1578)gaG>gaT	p.E526D	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	526					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.E526D(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CTTTGGAAGAGAACAGTAGGT	0.378																																					p.E526D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1578T	5						.						146.0	149.0	148.0					5																	644452		2203	4300	6503	697452	SO:0001583	missense	55722	exon10			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1578G>T	5.37:g.644452G>T	ENSP00000264935:p.Glu526Asp		697452	NM_018140	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072134	0.55646	.	.	ENSG00000112877	ENST00000264935	T	0.56275	0.47	4.64	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.62205	-0.6903	10	0.42905	T	0.14	-27.8963	7.3527	0.26700	0.2982:0.0:0.7018:0.0	.	526	Q9P209	CEP72_HUMAN	D	526	ENSP00000264935:E526D	ENSP00000264935:E526D	E	+	3	2	CEP72	697452	1.000000	0.71417	0.967000	0.41034	0.503000	0.33858	1.063000	0.30567	0.488000	0.27723	0.561000	0.74099	GAG		0.378	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140	
BRD9	65980	broad.mit.edu	37	5	889244	889244	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:889244C>T	ENST00000467963.1	-	5	664	c.498G>A	c.(496-498)acG>acA	p.T166T	BRD9_ENST00000435709.2_Silent_p.T50T|BRD9_ENST00000323510.4_Silent_p.T50T|BRD9_ENST00000483173.1_Silent_p.T113T|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000388890.4_Silent_p.T50T	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	166	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.T166T(1)|p.T50T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAATTGCATCCGTGACAGGAA	0.348																																					p.T166T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G498A	5						.						68.0	67.0	67.0					5																	889244		2203	4300	6503	942244	SO:0001819	synonymous_variant	65980	exon5			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.498G>A	5.37:g.889244C>T			942244	NM_023924	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.348	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924	
ADAMTS16	170690	broad.mit.edu	37	5	5303846	5303846	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5303846G>A	ENST00000274181.7	+	20	3291	c.3153G>A	c.(3151-3153)aaG>aaA	p.K1051K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1051	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1051K(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAAGCCCAAGAAGCTGCAGT	0.652																																					p.K1051K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3153A	5						.						27.0	31.0	30.0					5																	5303846		2095	4239	6334	5356846	SO:0001819	synonymous_variant	170690	exon20			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3153G>A	5.37:g.5303846G>A			5356846	NM_139056	C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	CCDS43299.1																																																																																				0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
ICE1	23379	broad.mit.edu	37	5	5462245	5462245	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5462245G>T	ENST00000296564.7	+	13	3020	c.2798G>T	c.(2797-2799)aGa>aTa	p.R933I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		933					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.R933I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCCTCTAGGAGAAAATTAGAT	0.388																																					p.R933I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2798T	5						.						38.0	38.0	38.0					5																	5462245		1812	4086	5898	5515245	SO:0001583	missense	23379	exon13																														ENST00000296564.7:c.2798G>T	5.37:g.5462245G>T	ENSP00000296564:p.Arg933Ile		5515245	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.010020	0.54361	.	.	ENSG00000164151	ENST00000296564	T	0.10382	2.88	5.29	-0.189	0.13260	.	0.337618	0.28940	N	0.013658	T	0.05960	0.0155	L	0.27053	0.805	0.09310	N	1	P	0.45634	0.863	B	0.41691	0.364	T	0.29088	-1.0023	10	0.66056	D	0.02	-9.6391	1.5346	0.02542	0.1863:0.3102:0.344:0.1594	.	933	Q9Y2F5	K0947_HUMAN	I	933	ENSP00000296564:R933I	ENSP00000296564:R933I	R	+	2	0	KIAA0947	5515245	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.232000	0.09055	0.580000	0.29522	0.461000	0.40582	AGA		0.388	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	broad.mit.edu	37	5	5464037	5464037	+	Silent	SNP	C	C	T	rs537938775		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5464037C>T	ENST00000296564.7	+	13	4812	c.4590C>T	c.(4588-4590)ttC>ttT	p.F1530F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1530					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.F1530F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCAAAACTTCGAGACTCAGA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21367	0.0		0.0	False		,,,				2504	0.0				p.F1530F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4590T	5						.						43.0	41.0	42.0					5																	5464037		1856	4096	5952	5517037	SO:0001819	synonymous_variant	23379	exon13																														ENST00000296564.7:c.4590C>T	5.37:g.5464037C>T			5517037	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	CCDS47187.1																																																																																				0.373	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	broad.mit.edu	37	5	5466570	5466570	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5466570G>T	ENST00000296564.7	+	14	6238	c.6016G>T	c.(6016-6018)Gac>Tac	p.D2006Y		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2006					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.D2006Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCAACTCGGAGACTTGGAAAG	0.393																																					p.D2006Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6016T	5						.						163.0	149.0	154.0					5																	5466570		1862	4088	5950	5519570	SO:0001583	missense	23379	exon14																														ENST00000296564.7:c.6016G>T	5.37:g.5466570G>T	ENSP00000296564:p.Asp2006Tyr		5519570	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543376	0.86022	.	.	ENSG00000164151	ENST00000296564	T	0.21031	2.03	5.66	5.66	0.87406	.	.	.	.	.	T	0.44993	0.1320	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29701	-1.0003	9	0.87932	D	0	-14.8584	17.2442	0.87022	0.0:0.0:1.0:0.0	.	2006	Q9Y2F5	K0947_HUMAN	Y	2006	ENSP00000296564:D2006Y	ENSP00000296564:D2006Y	D	+	1	0	KIAA0947	5519570	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.805000	0.75191	2.675000	0.91044	0.557000	0.71058	GAC		0.393	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	broad.mit.edu	37	5	5469000	5469000	+	Missense_Mutation	SNP	C	C	A	rs375083449		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5469000C>A	ENST00000296564.7	+	15	6343	c.6121C>A	c.(6121-6123)Ctc>Atc	p.L2041I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2041					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.L2041I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATATATTTCTCTCTCAATC	0.338																																					p.L2041I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6121A	5						.	C	ILE/LEU	0,3694		0,0,1847	102.0	98.0	99.0		6121	-6.5	0.0	5		99	1,8171		0,1,4085	no	missense	KIAA0947	NM_015325.1	5	0,1,5932	AA,AC,CC		0.0122,0.0,0.0084	benign	2041/2267	5469000	1,11865	1847	4086	5933	5522000	SO:0001583	missense	23379	exon15																														ENST00000296564.7:c.6121C>A	5.37:g.5469000C>A	ENSP00000296564:p.Leu2041Ile		5522000	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	6.617	0.482256	0.12581	0.0	1.22E-4	ENSG00000164151	ENST00000296564	T	0.10288	2.89	5.86	-6.53	0.01866	.	.	.	.	.	T	0.03305	0.0096	N	0.02539	-0.55	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.48896	-0.8994	9	0.17369	T	0.5	4.1453	9.5342	0.39213	0.3008:0.489:0.2102:0.0	.	2041	Q9Y2F5	K0947_HUMAN	I	2041	ENSP00000296564:L2041I	ENSP00000296564:L2041I	L	+	1	0	KIAA0947	5522000	0.001000	0.12720	0.005000	0.12908	0.972000	0.66771	-0.258000	0.08733	-1.040000	0.03271	0.650000	0.86243	CTC		0.338	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
ICE1	23379	broad.mit.edu	37	5	5486894	5486894	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:5486894C>T	ENST00000296564.7	+	18	6803	c.6581C>T	c.(6580-6582)tCg>tTg	p.S2194L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2194					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.S2194L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AATATTAGTTCGGTTATTGGT	0.328																																					p.S2194L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6581T	5						.						84.0	77.0	79.0					5																	5486894		1839	4098	5937	5539894	SO:0001583	missense	23379	exon18																														ENST00000296564.7:c.6581C>T	5.37:g.5486894C>T	ENSP00000296564:p.Ser2194Leu		5539894	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873890	0.72180	.	.	ENSG00000164151	ENST00000296564	T	0.66995	-0.24	5.69	4.77	0.60923	.	.	.	.	.	T	0.69851	0.3157	L	0.47716	1.5	0.09310	N	1	D	0.69078	0.997	P	0.53954	0.738	T	0.62501	-0.6841	9	0.66056	D	0.02	-2.8543	11.8128	0.52192	0.0:0.8237:0.1763:0.0	.	2194	Q9Y2F5	K0947_HUMAN	L	2194	ENSP00000296564:S2194L	ENSP00000296564:S2194L	S	+	2	0	KIAA0947	5539894	0.013000	0.17824	0.009000	0.14445	0.961000	0.63080	2.215000	0.42862	2.685000	0.91497	0.655000	0.94253	TCG		0.328	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
PAPD7	11044	broad.mit.edu	37	5	6737711	6737711	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:6737711G>A	ENST00000230859.6	+	2	184	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	249					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAACGGATCGAAACTGTGGT	0.433																																					p.E19K	NSCLC(7;212 333 5667 23379 46547)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	5						.						244.0	192.0	210.0					5																	6737711		2203	4300	6503	6790711	SO:0001583	missense	11044	exon2			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.55G>A	5.37:g.6737711G>A	ENSP00000230859:p.Glu19Lys		6790711	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631366	0.87660	.	.	ENSG00000112941	ENST00000230859;ENST00000515721	T	0.47177	0.85	5.05	5.05	0.67936	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.28740	0.885	0.80722	D	1	P;P	0.51537	0.946;0.891	B;B	0.43331	0.416;0.416	T	0.34551	-0.9824	10	0.40728	T	0.16	-10.7623	18.4239	0.90602	0.0:0.0:1.0:0.0	.	19;19	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	K	19	ENSP00000230859:E19K	ENSP00000230859:E19K	E	+	1	0	PAPD7	6790711	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	8.832000	0.92079	2.346000	0.79739	0.484000	0.47621	GAA		0.433	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
PAPD7	11044	broad.mit.edu	37	5	6742698	6742698	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:6742698G>T	ENST00000230859.6	+	5	483	c.354G>T	c.(352-354)aaG>aaT	p.K118N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	348					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.K118N(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGTTCATCAAGAATTACATGA	0.507																																					p.K118N	NSCLC(7;212 333 5667 23379 46547)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G354T	5						.						76.0	72.0	73.0					5																	6742698		2203	4300	6503	6795698	SO:0001583	missense	11044	exon5			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.354G>T	5.37:g.6742698G>T	ENSP00000230859:p.Lys118Asn		6795698	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957205	0.73902	.	.	ENSG00000112941	ENST00000230859	T	0.43294	0.95	5.39	5.39	0.77823	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	L	0.53780	1.695	0.58432	D	0.999996	P;P	0.51240	0.885;0.943	P;P	0.53722	0.665;0.733	T	0.48139	-0.9061	10	0.49607	T	0.09	.	11.7653	0.51926	0.0805:0.0:0.9195:0.0	.	118;118	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	118	ENSP00000230859:K118N	ENSP00000230859:K118N	K	+	3	2	PAPD7	6795698	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.585000	0.46111	2.525000	0.85131	0.655000	0.94253	AAG		0.507	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
PAPD7	11044	broad.mit.edu	37	5	6746444	6746444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:6746444G>T	ENST00000230859.6	+	7	742	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	435					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.E205*(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAGAATCAAAGAAGGAGGTGC	0.453																																					p.E205X	NSCLC(7;212 333 5667 23379 46547)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G613T	5						.						96.0	105.0	102.0					5																	6746444		2203	4300	6503	6799444	SO:0001587	stop_gained	11044	exon7			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.613G>T	5.37:g.6746444G>T	ENSP00000230859:p.Glu205*		6799444	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Nonsense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	38	7.025086	0.98010	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.77	4.79	0.61399	.	0.140259	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.7875	6.9471	0.24524	0.1925:0.0:0.8075:0.0	.	.	.	.	X	205	.	ENSP00000230859:E205X	E	+	1	0	PAPD7	6799444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.305000	0.59110	2.724000	0.93272	0.561000	0.74099	GAA		0.453	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
PAPD7	11044	broad.mit.edu	37	5	6746517	6746517	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:6746517G>T	ENST00000230859.6	+	7	815	c.686G>T	c.(685-687)tGc>tTc	p.C229F		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	459					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.C229F(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCGATGCTGTGCATTGAGGAC	0.572																																					p.C229F	NSCLC(7;212 333 5667 23379 46547)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686T	5						.						72.0	74.0	73.0					5																	6746517		2203	4300	6503	6799517	SO:0001583	missense	11044	exon7			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.686G>T	5.37:g.6746517G>T	ENSP00000230859:p.Cys229Phe		6799517	NM_001171805	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775203	0.70107	.	.	ENSG00000112941	ENST00000230859	T	0.78707	-1.2	5.06	5.06	0.68205	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.84683	2.71	0.80722	D	1	D;D	0.59357	0.985;0.985	D;P	0.64144	0.922;0.886	D	0.88664	0.3191	10	0.66056	D	0.02	-7.2844	12.2007	0.54323	0.0785:0.0:0.9215:0.0	.	229;229	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	F	229	ENSP00000230859:C229F	ENSP00000230859:C229F	C	+	2	0	PAPD7	6799517	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.277000	0.58939	2.508000	0.84585	0.561000	0.74099	TGC		0.572	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
ADCY2	108	broad.mit.edu	37	5	7698376	7698376	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:7698376G>T	ENST00000338316.4	+	7	1087	c.998G>T	c.(997-999)aGa>aTa	p.R333I	ADCY2_ENST00000537121.1_Missense_Mutation_p.R153I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	333					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R333I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAATGCATGAGAATTAAAATT	0.393																																					p.R333I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998T	5						.						129.0	137.0	135.0					5																	7698376		2203	4300	6503	7751376	SO:0001583	missense	108	exon7			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.998G>T	5.37:g.7698376G>T	ENSP00000342952:p.Arg333Ile		7751376	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	32	5.162684	0.94727	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81415	-1.49;-1.49	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.93270	0.6651	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	153;333	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	333;184;153	ENSP00000342952:R333I;ENSP00000444803:R153I	ENSP00000342952:R333I	R	+	2	0	ADCY2	7751376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.748000	0.94277	0.655000	0.94253	AGA		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
C5orf49	134121	broad.mit.edu	37	5	7835566	7835566	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:7835566C>A	ENST00000399810.2	-	2	661	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	C5orf49_ENST00000509627.1_Missense_Mutation_p.D65Y	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	65								p.D65Y(1)		large_intestine(3)|lung(5)|skin(1)	9						TGATCATAATCTAGGCGCCTC	0.368																																					p.D65Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193T	5						.						121.0	115.0	117.0					5																	7835566		1818	4076	5894	7888566	SO:0001583	missense	134121	exon2				CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.193G>T	5.37:g.7835566C>A	ENSP00000382708:p.Asp65Tyr		7888566	NM_001089584		Missense_Mutation	SNP	ENST00000399810.2	37	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757537	0.49468	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.33654	1.4;1.4	4.95	4.09	0.47781	.	.	.	.	.	T	0.41119	0.1145	L	0.38175	1.15	0.25521	N	0.98737	P	0.50528	0.936	P	0.53593	0.73	T	0.18429	-1.0337	9	0.62326	D	0.03	-8.882	10.7051	0.45950	0.0:0.9099:0.0:0.0901	.	65	A4QMS7	CE049_HUMAN	Y	65	ENSP00000382708:D65Y;ENSP00000426019:D65Y	ENSP00000382708:D65Y	D	-	1	0	C5orf49	7888566	0.910000	0.30920	0.053000	0.19242	0.601000	0.36947	2.461000	0.45040	1.232000	0.43678	0.561000	0.74099	GAT		0.368	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584	
FASTKD3	79072	broad.mit.edu	37	5	7866971	7866971	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:7866971G>A	ENST00000264669.5	-	2	1362	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	409					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S409F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATTAAGGCAGAAATCTGACG	0.378																																					p.S409F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1226T	5						.						54.0	55.0	55.0					5																	7866971		2203	4300	6503	7919971	SO:0001583	missense	79072	exon2			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1226C>T	5.37:g.7866971G>A	ENSP00000264669:p.Ser409Phe		7919971	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741181	0.30865	.	.	ENSG00000124279	ENST00000264669	T	0.47177	0.85	4.95	4.05	0.47172	FAST kinase leucine-rich (1);	0.318470	0.32161	N	0.006481	T	0.57460	0.2055	L	0.47716	1.5	0.09310	N	0.999998	D	0.60160	0.987	D	0.63488	0.915	T	0.52366	-0.8585	10	0.22706	T	0.39	-12.9474	15.1736	0.72894	0.0:0.1416:0.8584:0.0	.	409	Q14CZ7	FAKD3_HUMAN	F	409	ENSP00000264669:S409F	ENSP00000264669:S409F	S	-	2	0	FASTKD3	7919971	0.998000	0.40836	0.001000	0.08648	0.106000	0.19336	4.848000	0.62874	1.231000	0.43661	0.655000	0.94253	TCT		0.378	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
FASTKD3	79072	broad.mit.edu	37	5	7867316	7867316	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:7867316T>G	ENST00000264669.5	-	2	1017	c.881A>C	c.(880-882)aAa>aCa	p.K294T	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	294					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.K294T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTAATCAATTTAGGACTCAG	0.378																																					p.K294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A881C	5						.						88.0	100.0	96.0					5																	7867316		2203	4300	6503	7920316	SO:0001583	missense	79072	exon2			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.881A>C	5.37:g.7867316T>G	ENSP00000264669:p.Lys294Thr		7920316	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	1.169	-0.641641	0.03531	.	.	ENSG00000124279	ENST00000264669	T	0.15256	2.44	4.85	-4.99	0.03010	.	0.822214	0.11526	N	0.555141	T	0.12433	0.0302	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.21724	-1.0237	10	0.23891	T	0.37	-1.1286	16.1468	0.81577	0.0:0.0641:0.7423:0.1937	.	294	Q14CZ7	FAKD3_HUMAN	T	294	ENSP00000264669:K294T	ENSP00000264669:K294T	K	-	2	0	FASTKD3	7920316	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.680000	0.05197	-1.092000	0.03062	-0.323000	0.08544	AAA		0.378	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	G	A	rs377487102		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:9154665G>A	ENST00000382496.5	-	12	2081	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	472	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.F472F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612																																					p.F472F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1416T	5						.						84.0	77.0	80.0					5																	9154665		2203	4300	6503	9207665	SO:0001819	synonymous_variant	9037	exon12			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1416C>T	5.37:g.9154665G>A			9207665	NM_003966	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																				0.612	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
SEMA5A	9037	broad.mit.edu	37	5	9237971	9237971	+	Missense_Mutation	SNP	T	T	G	rs371730082		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:9237971T>G	ENST00000382496.5	-	6	967	c.302A>C	c.(301-303)aAa>aCa	p.K101T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	101	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.K101T(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ACAGGCCTTTTTGGTAGCTTC	0.383																																					p.K101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A302C	5						.						293.0	229.0	251.0					5																	9237971		2203	4300	6503	9290971	SO:0001583	missense	9037	exon6			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.302A>C	5.37:g.9237971T>G	ENSP00000371936:p.Lys101Thr		9290971	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.35|13.35	2.210391|2.210391	0.39003|0.39003	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.10960|.	2.82;2.82|.	5.63|5.63	3.18|3.18	0.36537|0.36537	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.143039|.	0.64402|.	D|.	0.000007|.	T|T	0.58595|0.58595	0.2133|0.2133	L|L	0.57536|0.57536	1.79|1.79	0.43334|0.43334	D|D	0.995371|0.995371	P|.	0.39131|.	0.661|.	P|.	0.44447|.	0.45|.	T|T	0.51725|0.51725	-0.8669|-0.8669	10|5	0.41790|.	T|.	0.15|.	.|.	7.4846|7.4846	0.27425|0.27425	0.0:0.1713:0.0:0.8287|0.0:0.1713:0.0:0.8287	.|.	101|.	Q13591|.	SEM5A_HUMAN|.	T|H	101|48	ENSP00000371936:K101T;ENSP00000421961:K101T|.	ENSP00000371936:K101T|.	K|Q	-|-	2|3	0|2	SEMA5A|SEMA5A	9290971|9290971	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	1.618000|1.618000	0.36954|0.36954	0.400000|0.400000	0.25396|0.25396	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.383	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
TAS2R1	50834	broad.mit.edu	37	5	9629254	9629254	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:9629254G>A	ENST00000382492.2	-	1	1209	c.891C>T	c.(889-891)tgC>tgT	p.C297C	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	297					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.C297C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CTCACTGACAGCACTTACTGT	0.413																																					p.C297C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C891T	5						.						89.0	89.0	89.0					5																	9629254		2203	4300	6503	9682254	SO:0001819	synonymous_variant	50834	exon1			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.891C>T	5.37:g.9629254G>A			9682254	NM_019599	Q646G8	Silent	SNP	ENST00000382492.2	37	CCDS3876.1																																																																																				0.413	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
CDH18	1016	broad.mit.edu	37	5	19483582	19483582	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:19483582G>T	ENST00000507958.1	-	14	2700	c.1710C>A	c.(1708-1710)atC>atA	p.I570I	CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Silent_p.I570I|CDH18_ENST00000382275.1_Silent_p.I570I			Q13634	CAD18_HUMAN	cadherin 18, type 2	570	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I570I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCATCAGAGATCATAATGG	0.498																																					p.I570I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710A	5						.						96.0	81.0	86.0					5																	19483582		2203	4300	6503	19519339	SO:0001819	synonymous_variant	1016	exon12			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1710C>A	5.37:g.19483582G>T			19519339	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19571872	19571872	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:19571872G>A	ENST00000507958.1	-	10	2059	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CDH18_ENST00000502796.1_Missense_Mutation_p.R357C|CDH18_ENST00000506372.1_Missense_Mutation_p.R357C|CDH18_ENST00000274170.4_Missense_Mutation_p.R357C|CDH18_ENST00000511273.1_Missense_Mutation_p.R357C|CDH18_ENST00000382275.1_Missense_Mutation_p.R357C			Q13634	CAD18_HUMAN	cadherin 18, type 2	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R357C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAAAAGCGAAAATCAAGA	0.378																																					p.R357C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1069T	5						.						105.0	98.0	100.0					5																	19571872		2203	4300	6503	19607629	SO:0001583	missense	1016	exon8			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1069C>T	5.37:g.19571872G>A	ENSP00000425093:p.Arg357Cys		19607629	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558408	0.86231	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61627	0.16;0.16;0.16;0.13;0.14;0.3;0.09	5.17	4.25	0.50352	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.86571	0.1847	9	.	.	.	.	14.3707	0.66838	0.0:0.0:0.8523:0.1477	.	357;357	B4DHG6;Q13634	.;CAD18_HUMAN	C	357;357;357;357;357;357;303;357	ENSP00000371710:R357C;ENSP00000425093:R357C;ENSP00000274170:R357C;ENSP00000424931:R357C;ENSP00000422138:R357C;ENSP00000427383:R303C;ENSP00000425854:R357C	.	R	-	1	0	CDH18	19607629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.162000	0.64942	2.591000	0.87537	0.655000	0.94253	CGC		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19591169	19591169	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:19591169C>A	ENST00000507958.1	-	9	1986	c.996G>T	c.(994-996)aaG>aaT	p.K332N	CDH18_ENST00000502796.1_Missense_Mutation_p.K332N|CDH18_ENST00000506372.1_Missense_Mutation_p.K332N|CDH18_ENST00000274170.4_Missense_Mutation_p.K332N|CDH18_ENST00000511273.1_Missense_Mutation_p.K332N|CDH18_ENST00000382275.1_Missense_Mutation_p.K332N			Q13634	CAD18_HUMAN	cadherin 18, type 2	332	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K332N(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTTACCTTCTTTAAAGAAA	0.403																																					p.K332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G996T	5						.						83.0	73.0	76.0					5																	19591169		2203	4300	6503	19626926	SO:0001583	missense	1016	exon7			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.996G>T	5.37:g.19591169C>A	ENSP00000425093:p.Lys332Asn		19626926	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552685	0.65425	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.24	-0.973	0.10297	Cadherin (5);Cadherin-like (1);	0.049189	0.85682	D	0.000000	T	0.51415	0.1673	L	0.45698	1.435	0.44261	D	0.997119	D;P	0.53619	0.961;0.866	P;P	0.60473	0.875;0.735	T	0.42498	-0.9448	9	.	.	.	.	10.2571	0.43403	0.0:0.4796:0.0:0.5204	.	332;332	B4DHG6;Q13634	.;CAD18_HUMAN	N	332;332;332;332;332;332;278;332	ENSP00000371710:K332N;ENSP00000425093:K332N;ENSP00000274170:K332N;ENSP00000424931:K332N;ENSP00000422138:K332N;ENSP00000427383:K278N;ENSP00000425854:K332N	.	K	-	3	2	CDH18	19626926	0.994000	0.37717	0.982000	0.44146	0.995000	0.86356	0.368000	0.20399	-0.268000	0.09312	0.650000	0.86243	AAG		0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH12	1010	broad.mit.edu	37	5	21817140	21817140	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:21817140A>G	ENST00000382254.1	-	9	2002	c.916T>C	c.(916-918)Tac>Cac	p.Y306H	CDH12_ENST00000504376.2_Missense_Mutation_p.Y306H|CDH12_ENST00000522262.1_Missense_Mutation_p.Y266H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y306H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACAATATTGTATTCAATTTCT	0.383										HNSCC(59;0.17)																											p.Y306H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T916C	5						.						136.0	134.0	134.0					5																	21817140		2203	4300	6503	21852897	SO:0001583	missense	1010	exon9			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.916T>C	5.37:g.21817140A>G	ENSP00000371689:p.Tyr306His		21852897	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455704	0.84209	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62941	-0.01;-0.01;-0.01	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	H	0.99659	4.685	0.54753	D	0.999987	P;D	0.76494	0.868;0.999	P;D	0.76071	0.708;0.987	D	0.93450	0.6801	10	0.72032	D	0.01	.	14.936	0.70954	1.0:0.0:0.0:0.0	.	266;306	B7Z2U6;P55289	.;CAD12_HUMAN	H	306;306;266	ENSP00000423577:Y306H;ENSP00000371689:Y306H;ENSP00000428786:Y266H	ENSP00000371689:Y306H	Y	-	1	0	CDH12	21852897	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.748000	0.91615	1.971000	0.57363	0.477000	0.44152	TAC		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH12	1010	broad.mit.edu	37	5	21842381	21842381	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:21842381C>A	ENST00000382254.1	-	8	1789	c.703G>T	c.(703-705)Gta>Tta	p.V235L	CDH12_ENST00000504376.2_Missense_Mutation_p.V235L|CDH12_ENST00000522262.1_Missense_Mutation_p.V195L|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V235L(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGGATGAGTACTTGATATTGT	0.398										HNSCC(59;0.17)																											p.V235L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G703T	5						.						268.0	211.0	230.0					5																	21842381		2203	4300	6503	21878138	SO:0001583	missense	1010	exon8			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.703G>T	5.37:g.21842381C>A	ENSP00000371689:p.Val235Leu		21878138	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035549	0.93630	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.48201	1.02;1.02;0.82	5.34	5.34	0.76211	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.38188	0.1031	N	0.00446	-1.495	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.77004	0.831;0.989	T	0.70375	-0.4889	10	0.48119	T	0.1	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	195;235	B7Z2U6;P55289	.;CAD12_HUMAN	L	235;235;195	ENSP00000423577:V235L;ENSP00000371689:V235L;ENSP00000428786:V195L	ENSP00000371689:V235L	V	-	1	0	CDH12	21878138	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	5.923000	0.70045	2.480000	0.83734	0.655000	0.94253	GTA		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM9	56979	broad.mit.edu	37	5	23526562	23526562	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:23526562G>T	ENST00000296682.3	+	11	1547	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	455					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.E455D(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGGTCAAGAGATCAAAGAAA	0.478										HNSCC(3;0.000094)																											p.E455D												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1365T	5						.						50.0	51.0	50.0					5																	23526562		2203	4300	6503	23562319	SO:0001583	missense	56979	exon11			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1365G>T	5.37:g.23526562G>T	ENSP00000296682:p.Glu455Asp		23562319	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802535	0.16397	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.09817	2.94	2.71	0.626	0.17670	.	0.646368	0.12813	N	0.437047	T	0.07999	0.0200	L	0.52126	1.63	0.09310	N	1	P	0.34662	0.462	B	0.33960	0.173	T	0.34030	-0.9845	10	0.15499	T	0.54	-5.7858	3.0916	0.06296	0.32:0.226:0.454:0.0	.	455	Q9NQV7	PRDM9_HUMAN	D	455;249	ENSP00000296682:E455D	ENSP00000253473:E249D	E	+	3	2	PRDM9	23562319	0.006000	0.16342	0.002000	0.10522	0.132000	0.20833	-2.403000	0.01046	0.112000	0.17975	-0.438000	0.05819	GAG		0.478	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH10	1008	broad.mit.edu	37	5	24487810	24487810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:24487810C>A	ENST00000264463.4	-	12	2836	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	777					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E777*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCATACATTTCTGCTAGCTTA	0.423										HNSCC(23;0.051)																											p.E777X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2329T	5						.						171.0	173.0	172.0					5																	24487810		2203	4300	6503	24523567	SO:0001587	stop_gained	1008	exon12			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2329G>T	5.37:g.24487810C>A	ENSP00000264463:p.Glu777*		24523567	NM_006727	Q9ULB3	Nonsense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	44	10.660279	0.99445	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.81	5.81	0.92471	.	0.090990	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.0503	0.93041	0.0:1.0:0.0:0.0	.	.	.	.	X	777	.	ENSP00000264463:E777X	E	-	1	0	CDH10	24523567	1.000000	0.71417	0.873000	0.34254	0.987000	0.75469	7.702000	0.84576	2.750000	0.94351	0.655000	0.94253	GAA		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24509922	24509922	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:24509922C>T	ENST00000264463.4	-	7	1516	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D337N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTCATAGTCGAGTGGCTGT	0.373										HNSCC(23;0.051)																											p.D337N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	5						.						48.0	50.0	49.0					5																	24509922		2203	4300	6503	24545679	SO:0001583	missense	1008	exon7			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1009G>A	5.37:g.24509922C>T	ENSP00000264463:p.Asp337Asn		24545679	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816372	0.70912	.	.	ENSG00000040731	ENST00000264463	T	0.63417	-0.04	5.2	5.2	0.72013	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.84683	2.71	0.53688	D	0.999976	P	0.52692	0.955	P	0.45639	0.488	T	0.77925	-0.2405	10	0.54805	T	0.06	.	18.0841	0.89452	0.0:1.0:0.0:0.0	.	337	Q9Y6N8	CAD10_HUMAN	N	337	ENSP00000264463:D337N	ENSP00000264463:D337N	D	-	1	0	CDH10	24545679	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	7.432000	0.80349	2.595000	0.87683	0.561000	0.74099	GAC		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH9	1007	broad.mit.edu	37	5	26886136	26886136	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:26886136G>T	ENST00000231021.4	-	10	1741	c.1569C>A	c.(1567-1569)ttC>ttA	p.F523L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F523L(2)|p.F523F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTCAAAAAAGAATTTGTGAC	0.313																																					p.F523L	Melanoma(8;187 585 15745 40864 52829)											.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(2)|lung(1)	c.C1569A	5						.						76.0	86.0	83.0					5																	26886136		2202	4300	6502	26921893	SO:0001583	missense	1007	exon10			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1569C>A	5.37:g.26886136G>T	ENSP00000231021:p.Phe523Leu		26921893	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483928	0.63962	.	.	ENSG00000113100	ENST00000231021	T	0.48201	0.82	5.76	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.048575	0.85682	N	0.000000	T	0.70369	0.3216	M	0.90759	3.145	0.45087	D	0.998106	D;D	0.76494	0.997;0.999	D;D	0.74674	0.974;0.984	T	0.72849	-0.4168	9	.	.	.	.	9.0368	0.36293	0.2483:0.0:0.7517:0.0	.	116;523	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	523	ENSP00000231021:F523L	.	F	-	3	2	CDH9	26921893	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.682000	0.37628	0.743000	0.32719	0.467000	0.42956	TTC		0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26889986	26889986	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:26889986A>G	ENST00000231021.4	-	9	1643	c.1471T>C	c.(1471-1473)Tat>Cat	p.Y491H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	491	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y491H(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTTCATAATACATGGCAAAT	0.333																																					p.Y491H	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1471C	5						.						122.0	124.0	123.0					5																	26889986		2203	4300	6503	26925743	SO:0001583	missense	1007	exon9			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1471T>C	5.37:g.26889986A>G	ENSP00000231021:p.Tyr491His		26925743	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	9.818	1.184919	0.21870	.	.	ENSG00000113100	ENST00000231021	T	0.60672	0.17	5.31	5.31	0.75309	Cadherin (1);Cadherin-like (1);	0.400535	0.25848	N	0.027907	T	0.40670	0.1126	N	0.25647	0.755	0.37252	D	0.906623	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.39461	-0.9613	9	.	.	.	.	8.7488	0.34602	0.9141:0.0:0.0859:0.0	.	84;491	B4DFP0;Q9ULB4	.;CADH9_HUMAN	H	491	ENSP00000231021:Y491H	.	Y	-	1	0	CDH9	26925743	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.848000	0.69458	2.010000	0.58986	0.450000	0.29827	TAT		0.333	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
DROSHA	29102	broad.mit.edu	37	5	31515144	31515144	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:31515144C>T	ENST00000511367.2	-	7	1485	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	DROSHA_ENST00000344624.3_Missense_Mutation_p.R414Q|DROSHA_ENST00000513349.1_Missense_Mutation_p.R377Q|DROSHA_ENST00000442743.1_Missense_Mutation_p.R377Q	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	414					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R414Q(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAGTGCATCGAATCCACAC	0.478																																					p.R414Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1241A	5						.						162.0	153.0	156.0					5																	31515144		1936	4134	6070	31550901	SO:0001583	missense	29102	exon7			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1241G>A	5.37:g.31515144C>T	ENSP00000425979:p.Arg414Gln		31550901	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567150	0.96540	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302	T;T;T;T;T	0.65178	1.04;1.04;0.36;0.36;-0.14	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.83275	0.787;0.996;0.996	T	0.77867	-0.2428	10	0.54805	T	0.06	-13.5039	19.8465	0.96710	0.0:1.0:0.0:0.0	.	346;377;414	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	Q	414;414;377;377;339;370;181	ENSP00000425979:R414Q;ENSP00000339845:R414Q;ENSP00000409335:R377Q;ENSP00000424161:R377Q;ENSP00000428782:R181Q	ENSP00000265075:R339Q	R	-	2	0	DROSHA	31550901	1.000000	0.71417	0.928000	0.36995	0.994000	0.84299	7.445000	0.80570	2.769000	0.95229	0.561000	0.74099	CGA		0.478	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	31983313	31983313	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:31983313C>T	ENST00000438447.1	+	3	917	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R177C			O15018	PDZD2_HUMAN	PDZ domain containing 2	177	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R177C(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATCATGCTGCGTCGCTTTAA	0.522																																					p.R177C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C529T	5						.						95.0	98.0	97.0					5																	31983313		2203	4300	6503	32019070	SO:0001583	missense	23037	exon2			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.529C>T	5.37:g.31983313C>T	ENSP00000402033:p.Arg177Cys		32019070	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080081	0.76528	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.74315	-0.83;-0.83	5.23	4.37	0.52481	PDZ/DHR/GLGF (2);	0.000000	0.48286	D	0.000197	T	0.76535	0.4001	N	0.24115	0.695	0.80722	D	1	D;P	0.89917	1.0;0.84	D;B	0.85130	0.997;0.116	T	0.79174	-0.1912	10	0.87932	D	0	.	11.5757	0.50860	0.0:0.9143:0.0:0.0857	.	3;177	B4E3P2;O15018	.;PDZD2_HUMAN	C	177	ENSP00000402033:R177C;ENSP00000282493:R177C	ENSP00000282493:R177C	R	+	1	0	PDZD2	32019070	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	6.966000	0.76073	1.448000	0.47680	-0.142000	0.14014	CGT		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:31983413C>T	ENST00000438447.1	+	3	1017	c.629C>T	c.(628-630)gCg>gTg	p.A210V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A210V			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A210V(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACCGAACTGCGAAAAAGGGG	0.542																																					p.A210V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C629T	5						.						90.0	88.0	89.0					5																	31983413		2203	4300	6503	32019170	SO:0001583	missense	23037	exon2			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.629C>T	5.37:g.31983413C>T	ENSP00000402033:p.Ala210Val		32019170	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579072	0.00879	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.66995	-0.24;-0.24	5.23	0.891	0.19224	.	0.842448	0.10159	N	0.708614	T	0.34308	0.0893	N	0.01874	-0.695	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.08055	0.003;0.002	T	0.20571	-1.0271	10	0.25751	T	0.34	.	5.2417	0.15475	0.0:0.5379:0.1728:0.2893	.	36;210	B4E3P2;O15018	.;PDZD2_HUMAN	V	210	ENSP00000402033:A210V;ENSP00000282493:A210V	ENSP00000282493:A210V	A	+	2	0	PDZD2	32019170	0.713000	0.27926	0.013000	0.15412	0.092000	0.18411	2.415000	0.44635	0.282000	0.22254	-0.172000	0.13284	GCG		0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	32061208	32061208	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32061208C>T	ENST00000438447.1	+	14	2807	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	PDZD2_ENST00000282493.3_Missense_Mutation_p.R807C			O15018	PDZD2_HUMAN	PDZ domain containing 2	807	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R807C(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGACCCGTTCGCCTTGTCAT	0.532																																					p.R807C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2419T	5						.						93.0	76.0	82.0					5																	32061208		2203	4300	6503	32096965	SO:0001583	missense	23037	exon13			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2419C>T	5.37:g.32061208C>T	ENSP00000402033:p.Arg807Cys		32096965	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476082	0.84640	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.28255	1.62;1.62	5.76	4.82	0.62117	PDZ/DHR/GLGF (3);	0.000000	0.48286	D	0.000187	T	0.46521	0.1397	L	0.50847	1.595	0.50313	D	0.999865	D;D	0.89917	1.0;1.0	D;D	0.77004	0.959;0.989	T	0.33317	-0.9873	10	0.56958	D	0.05	.	10.6489	0.45636	0.3112:0.6888:0.0:0.0	.	633;807	B4E3P2;O15018	.;PDZD2_HUMAN	C	807	ENSP00000402033:R807C;ENSP00000282493:R807C	ENSP00000282493:R807C	R	+	1	0	PDZD2	32096965	0.999000	0.42202	0.995000	0.50966	0.987000	0.75469	4.074000	0.57577	2.726000	0.93360	0.655000	0.94253	CGC		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	32074722	32074722	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32074722C>T	ENST00000438447.1	+	18	3898	c.3510C>T	c.(3508-3510)ggC>ggT	p.G1170G	PDZD2_ENST00000282493.3_Silent_p.G1170G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1170					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G1170G(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGTCGCTGGCTTTCAGCCAG	0.498																																					p.G1170G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3510T	5						.						21.0	22.0	22.0					5																	32074722		2202	4299	6501	32110479	SO:0001819	synonymous_variant	23037	exon17			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3510C>T	5.37:g.32074722C>T			32110479	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
PDZD2	23037	broad.mit.edu	37	5	32088933	32088933	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32088933C>T	ENST00000438447.1	+	20	5767	c.5379C>T	c.(5377-5379)atC>atT	p.I1793I	PDZD2_ENST00000282493.3_Silent_p.I1793I			O15018	PDZD2_HUMAN	PDZ domain containing 2	1793					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.I1793I(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAAAATGATCGCTAGGAGGC	0.428																																					p.I1793I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5379T	5						.						71.0	74.0	73.0					5																	32088933		2203	4300	6503	32124690	SO:0001819	synonymous_variant	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5379C>T	5.37:g.32088933C>T			32124690	NM_178140	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.428	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
MTMR12	54545	broad.mit.edu	37	5	32239142	32239142	+	Missense_Mutation	SNP	G	G	A	rs372093007		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32239142G>A	ENST00000382142.3	-	13	1479	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	MTMR12_ENST00000264934.5_Missense_Mutation_p.R437C|MTMR12_ENST00000280285.5_Missense_Mutation_p.R437C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	437	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.R437C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGTTGCAGCGATCCAAGAAA	0.502																																					p.R437C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1309T	5						.						94.0	82.0	86.0					5																	32239142		2203	4300	6503	32274899	SO:0001583	missense	54545	exon13			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1309C>T	5.37:g.32239142G>A	ENSP00000371577:p.Arg437Cys		32274899	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284796	0.80803	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.98044	-4.68;-4.68;-4.68	5.54	5.54	0.83059	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.98888	1.0772	10	0.87932	D	0	.	14.6599	0.68861	0.0:0.0:0.8546:0.1454	.	437;437;437	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	C	437	ENSP00000280285:R437C;ENSP00000371577:R437C;ENSP00000264934:R437C	ENSP00000264934:R437C	R	-	1	0	MTMR12	32274899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.759000	0.94783	0.563000	0.77884	CGC		0.502	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
MTMR12	54545	broad.mit.edu	37	5	32274105	32274105	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32274105T>G	ENST00000382142.3	-	3	436	c.266A>C	c.(265-267)gAa>gCa	p.E89A	MTMR12_ENST00000264934.5_Missense_Mutation_p.E89A|MTMR12_ENST00000280285.5_Missense_Mutation_p.E89A	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	89						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.E89A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAATGCAGATTCATCATCACC	0.468																																					p.E89A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A266C	5						.						201.0	176.0	185.0					5																	32274105		2203	4300	6503	32309862	SO:0001583	missense	54545	exon3			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.266A>C	5.37:g.32274105T>G	ENSP00000371577:p.Glu89Ala		32309862	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	9.730	1.161892	0.21538	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.95554	-3.74;-3.39;-3.27	4.8	3.59	0.41128	.	0.901181	0.09614	N	0.778445	D	0.89128	0.6627	N	0.08118	0	0.27419	N	0.954351	P;B;B	0.39022	0.655;0.167;0.008	B;B;B	0.40677	0.337;0.107;0.004	T	0.80500	-0.1355	10	0.19590	T	0.45	.	9.5327	0.39205	0.0:0.0826:0.0:0.9174	.	89;89;89	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	A	89	ENSP00000280285:E89A;ENSP00000371577:E89A;ENSP00000264934:E89A	ENSP00000264934:E89A	E	-	2	0	MTMR12	32309862	0.653000	0.27358	0.089000	0.20774	0.968000	0.65278	3.341000	0.52151	0.733000	0.32492	0.448000	0.29417	GAA		0.468	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
ZFR	51663	broad.mit.edu	37	5	32364344	32364344	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32364344G>A	ENST00000265069.8	-	18	2975	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	958	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A958V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGGGCTAGAAGCACTGCTGAT	0.353																																					p.A958V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2873T	5						.						79.0	82.0	81.0					5																	32364344		2203	4300	6503	32400101	SO:0001583	missense	51663	exon18			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2873C>T	5.37:g.32364344G>A	ENSP00000265069:p.Ala958Val		32400101	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465801	0.84425	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.49139	0.79	5.74	5.74	0.90152	DZF (2);	0.051668	0.85682	D	0.000000	T	0.68100	0.2964	M	0.74467	2.265	0.80722	D	1	D;P	0.61697	0.99;0.856	P;P	0.60949	0.881;0.652	T	0.68667	-0.5348	10	0.54805	T	0.06	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	937;958	B5MEH6;Q96KR1	.;ZFR_HUMAN	V	958;937	ENSP00000265069:A958V	ENSP00000265069:A958V	A	-	2	0	ZFR	32400101	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.338000	0.96553	2.715000	0.92844	0.655000	0.94253	GCT		0.353	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ZFR	51663	broad.mit.edu	37	5	32379273	32379273	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32379273A>G	ENST00000265069.8	-	17	2885	c.2783T>C	c.(2782-2784)aTt>aCt	p.I928T	ZFR_ENST00000510369.1_5'UTR|AC008949.1_ENST00000411029.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	928	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I928T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GTCTCGAAGAATGCGTATGAT	0.383																																					p.I928T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2783C	5						.						82.0	80.0	81.0					5																	32379273		2203	4300	6503	32415030	SO:0001583	missense	51663	exon17			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2783T>C	5.37:g.32379273A>G	ENSP00000265069:p.Ile928Thr		32415030	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729341	0.48833	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.54279	0.58	5.7	5.7	0.88788	DZF (2);	0.047570	0.85682	D	0.000000	T	0.72260	0.3438	M	0.84511	2.7	0.80722	D	1	P;P	0.51791	0.948;0.761	P;B	0.57371	0.819;0.419	T	0.77781	-0.2459	10	0.87932	D	0	.	15.9632	0.79948	1.0:0.0:0.0:0.0	.	907;928	B5MEH6;Q96KR1	.;ZFR_HUMAN	T	928;907	ENSP00000265069:I928T	ENSP00000265069:I928T	I	-	2	0	ZFR	32415030	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.310000	0.96267	2.171000	0.68590	0.482000	0.46254	ATT		0.383	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ZFR	51663	broad.mit.edu	37	5	32390425	32390425	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32390425G>T	ENST00000265069.8	-	12	2200	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	700					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L700M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CGGACTCCCAGAAGGCCTAAT	0.547																																					p.L700M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2098A	5						.						126.0	121.0	123.0					5																	32390425		2203	4300	6503	32426182	SO:0001583	missense	51663	exon12			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2098C>A	5.37:g.32390425G>T	ENSP00000265069:p.Leu700Met		32426182	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868720	0.51588	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05199	3.48	5.42	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.57536	1.79	0.54753	D	0.999988	D	0.65815	0.995	D	0.70487	0.969	T	0.01133	-1.1441	10	0.35671	T	0.21	.	8.9376	0.35708	0.233:0.0:0.767:0.0	.	700	Q96KR1	ZFR_HUMAN	M	700;678	ENSP00000265069:L700M	ENSP00000265069:L700M	L	-	1	2	ZFR	32426182	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.347000	0.59373	1.262000	0.44165	0.561000	0.74099	CTG		0.547	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
NPR3	4883	broad.mit.edu	37	5	32789654	32789654	+	3'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:32789654G>T	ENST00000265074.8	+	0	5172				AC026703.1_ENST00000326958.1_Silent_p.G49G	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.G49G(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAATGCATGGGAAAAGAACAC	0.383																																					p.G49G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147T	5						.						85.0	86.0	86.0					5																	32789654		2203	4300	6503	32825411	SO:0001624	3_prime_UTR_variant	79614	exon1				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3203G>T	5.37:g.32789654G>T			32825411	NM_024563	A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	CCDS56357.1																																																																																				0.383	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
TARS	6897	broad.mit.edu	37	5	33467050	33467050	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33467050G>T	ENST00000265112.3	+	18	2294	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N	TARS_ENST00000541634.1_Missense_Mutation_p.K557N|TARS_ENST00000414361.2_Missense_Mutation_p.K540N|TARS_ENST00000502553.1_Missense_Mutation_p.K661N|TARS_ENST00000455217.2_Missense_Mutation_p.K694N	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	661					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.K661N(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAATAAAAAGATTCGAAATG	0.368																																					p.K661N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1983T	5						.						86.0	82.0	83.0					5																	33467050		2203	4300	6503	33502807	SO:0001583	missense	6897	exon18			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1983G>T	5.37:g.33467050G>T	ENSP00000265112:p.Lys661Asn		33502807	NM_152295	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.449714	0.84101	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.62	4.76	0.60689	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	H	0.98701	4.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;D;D	0.83275	0.996;0.991;0.972;0.991	D	0.97146	0.9828	10	0.87932	D	0	-28.0684	14.5126	0.67797	0.0702:0.0:0.9297:0.0	.	540;694;557;661	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	N	661;661;557;694;540	ENSP00000424387:K661N;ENSP00000265112:K661N;ENSP00000438469:K557N;ENSP00000387710:K694N;ENSP00000394291:K540N	ENSP00000265112:K661N	K	+	3	2	TARS	33502807	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.722000	0.74735	1.370000	0.46153	0.655000	0.94253	AAG		0.368	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
TARS	6897	broad.mit.edu	37	5	33467802	33467802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33467802G>T	ENST00000265112.3	+	19	2472	c.2161G>T	c.(2161-2163)Gaa>Taa	p.E721*	TARS_ENST00000541634.1_Nonsense_Mutation_p.E617*|TARS_ENST00000414361.2_Nonsense_Mutation_p.E600*|TARS_ENST00000502553.1_Nonsense_Mutation_p.E721*|TARS_ENST00000455217.2_Nonsense_Mutation_p.E754*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	721					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.E721*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACAGGCAGAAGAAGAATTTTA	0.423																																					p.E721X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2161T	5						.						39.0	44.0	42.0					5																	33467802		2203	4300	6503	33503559	SO:0001587	stop_gained	6897	exon19			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.2161G>T	5.37:g.33467802G>T	ENSP00000265112:p.Glu721*		33503559	NM_152295	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Nonsense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	g	40	8.271183	0.98735	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	4.66	4.66	0.58398	.	0.050116	0.85682	D	0.000000	.	.	.	.	.	.	0.48040	D	0.999571	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.113	17.9177	0.88957	0.0:0.0:1.0:0.0	.	.	.	.	X	721;721;617;754;600	.	ENSP00000265112:E721X	E	+	1	0	TARS	33503559	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	9.676000	0.98643	2.301000	0.77427	0.557000	0.71058	GAA		0.423	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
ADAMTS12	81792	broad.mit.edu	37	5	33577194	33577194	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33577194G>A	ENST00000504830.1	-	19	3272	c.2937C>T	c.(2935-2937)tgC>tgT	p.C979C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.C894C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	979	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C979C(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGTCACATCGCAAGGTTCAT	0.507										HNSCC(64;0.19)																											p.C979C												ADAMTS12,kidney,NS,Substitution - coding silent,0	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C2937T	5						.						129.0	123.0	125.0					5																	33577194		2203	4300	6503	33612951	SO:0001819	synonymous_variant	81792	exon19			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2937C>T	5.37:g.33577194G>A			33612951	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33616160	33616160	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33616160G>A	ENST00000504830.1	-	15	2496	c.2161C>T	c.(2161-2163)Ctc>Ttc	p.L721F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L636F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	721	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L721F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGGAATGAGCCCAATGTCA	0.438										HNSCC(64;0.19)																											p.L721F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2161T	5						.						76.0	72.0	73.0					5																	33616160		2203	4300	6503	33651917	SO:0001583	missense	81792	exon15			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2161C>T	5.37:g.33616160G>A	ENSP00000422554:p.Leu721Phe		33651917	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912362	0.72983	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52295	0.67;0.67	5.51	5.51	0.81932	ADAM-TS Spacer 1 (1);	0.205916	0.42294	D	0.000731	T	0.69468	0.3114	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.984;0.99	T	0.66240	-0.5973	10	0.10111	T	0.7	.	19.015	0.92890	0.0:0.0:1.0:0.0	.	636;721	P58397-3;P58397	.;ATS12_HUMAN	F	721;636	ENSP00000422554:L721F;ENSP00000344847:L636F	ENSP00000344847:L636F	L	-	1	0	ADAMTS12	33651917	0.988000	0.35896	0.985000	0.45067	0.936000	0.57629	1.975000	0.40569	2.558000	0.86282	0.561000	0.74099	CTC		0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33662086	33662086	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33662086C>T	ENST00000504830.1	-	6	1310	c.975G>A	c.(973-975)caG>caA	p.Q325Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.Q325Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q325Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGATACTCTTCTGCCACTTGC	0.483										HNSCC(64;0.19)																											p.Q325Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G975A	5						.						204.0	168.0	180.0					5																	33662086		2203	4300	6503	33697843	SO:0001819	synonymous_variant	81792	exon6			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.975G>A	5.37:g.33662086C>T			33697843	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
RXFP3	51289	broad.mit.edu	37	5	33937295	33937295	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33937295C>T	ENST00000330120.3	+	1	805	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	150					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.F150F(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						AATGGCCCTTCGGCAAGGCCA	0.557																																					p.F150F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C450T	5						.						132.0	118.0	123.0					5																	33937295		2203	4300	6503	33973052	SO:0001819	synonymous_variant	51289	exon1			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.450C>T	5.37:g.33937295C>T			33973052	NM_016568	Q14DA5	Silent	SNP	ENST00000330120.3	37	CCDS3900.1																																																																																				0.557	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568	
SLC45A2	51151	broad.mit.edu	37	5	33963850	33963850	+	Silent	SNP	G	G	A	rs116887602	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33963850G>A	ENST00000296589.4	-	3	980	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000382102.3_Silent_p.Y278Y|SLC45A2_ENST00000342059.3_Silent_p.Y219Y|SLC45A2_ENST00000345083.5_Intron	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	278					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.Y278Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGGATTTACGTAACCATTTT	0.413													G|||	8	0.00159744	0.0	0.0	5008	,	,		20126	0.0079		0.0	False		,,,				2504	0.0				p.Y278Y	Ovarian(31;380 859 8490 22203 49048)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	5	GRCh37	CM083852	SLC45A2	M	rs116887602	.						164.0	170.0	168.0					5																	33963850		2203	4300	6503	33999607	SO:0001819	synonymous_variant	51151	exon3			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.834C>T	5.37:g.33963850G>A			33999607	NM_001012509	Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	CCDS3901.1																																																																																				0.413	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
SLC45A2	51151	broad.mit.edu	37	5	33982434	33982434	+	Missense_Mutation	SNP	C	C	T	rs121912621		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33982434C>T	ENST00000296589.4	-	2	615	c.469G>A	c.(469-471)Gac>Aac	p.D157N	SLC45A2_ENST00000509381.1_Missense_Mutation_p.D157N|SLC45A2_ENST00000382102.3_Missense_Mutation_p.D157N|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.D157N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	157			D -> N (in OCA4). {ECO:0000269|PubMed:14961451, ECO:0000269|PubMed:15656822, ECO:0000269|PubMed:17768386}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.D157N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAATGAAGTCGGCAGCAAAA	0.468																																					p.D157N	Ovarian(31;380 859 8490 22203 49048)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	5	GRCh37	CM040825	SLC45A2	M	rs121912621	.						106.0	100.0	102.0					5																	33982434		2203	4300	6503	34018191	SO:0001583	missense	51151	exon2			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.469G>A	5.37:g.33982434C>T	ENSP00000296589:p.Asp157Asn		34018191	NM_001012509	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441554	0.96187	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.041280	0.85682	D	0.000000	D	0.96408	0.8828	M	0.76002	2.32	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93696	0.7011	9	0.02654	T	1	-21.5253	19.1001	0.93270	0.0:1.0:0.0:0.0	.	157;157;157	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	N	157	ENSP00000296589:D157N;ENSP00000371534:D157N;ENSP00000421100:D157N;ENSP00000340444:D157N	ENSP00000296589:D157N	D	-	1	0	SLC45A2	34018191	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.720000	0.84759	2.601000	0.87937	0.551000	0.68910	GAC		0.468	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
SLC45A2	51151	broad.mit.edu	37	5	33984469	33984469	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33984469A>G	ENST00000296589.4	-	1	366	c.220T>C	c.(220-222)Tgg>Cgg	p.W74R	SLC45A2_ENST00000509381.1_Missense_Mutation_p.W74R|SLC45A2_ENST00000382102.3_Missense_Mutation_p.W74R|SLC45A2_ENST00000342059.3_Missense_Mutation_p.W74R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.W74R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	74					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.W74R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAGGAACCACACAATGCTG	0.642																																					p.W74R	Ovarian(31;380 859 8490 22203 49048)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T220C	5						.						56.0	48.0	50.0					5																	33984469		2203	4300	6503	34020226	SO:0001583	missense	51151	exon1			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.220T>C	5.37:g.33984469A>G	ENSP00000296589:p.Trp74Arg		34020226	NM_001012509	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692114	0.88735	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.054998	0.85682	D	0.000000	D	0.96975	0.9012	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.97933	1.0321	10	0.87932	D	0	-8.2104	15.8205	0.78638	1.0:0.0:0.0:0.0	.	74;74;74	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	R	74	ENSP00000296589:W74R;ENSP00000341014:W74R;ENSP00000371534:W74R;ENSP00000421100:W74R;ENSP00000340444:W74R	ENSP00000296589:W74R	W	-	1	0	SLC45A2	34020226	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.271000	0.95698	2.137000	0.66172	0.450000	0.29827	TGG		0.642	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180	
AMACR	23600	broad.mit.edu	37	5	33989258	33989258	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33989258C>A	ENST00000335606.6	-	5	1177	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.E348D|AMACR_ENST00000382085.3_Missense_Mutation_p.E363D	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	363					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.E363D(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCTGATAAATCTCTTCGCGGC	0.403																																					p.E363D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1089T	5						.						92.0	97.0	95.0					5																	33989258		2203	4300	6503	34025015	SO:0001583	missense	23600	exon5			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1089G>T	5.37:g.33989258C>A	ENSP00000334424:p.Glu363Asp		34025015	NM_014324	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	5.261	0.233521	0.09969	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.55760	0.5;0.5;0.5	5.51	1.79	0.24919	CoA-transferase family III domain (1);	0.149353	0.64402	D	0.000014	T	0.40398	0.1115	L	0.37507	1.11	0.80722	D	1	B;B;B	0.23490	0.086;0.051;0.051	B;B;B	0.29942	0.109;0.05;0.05	T	0.11421	-1.0588	10	0.32370	T	0.25	-34.3852	8.6655	0.34118	0.0:0.6451:0.0:0.3549	.	363;348;363	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	D	363;363;348	ENSP00000334424:E363D;ENSP00000371517:E363D;ENSP00000424351:E348D	ENSP00000334424:E363D	E	-	3	2	AMACR	34025015	0.940000	0.31905	0.973000	0.42090	0.231000	0.25187	0.055000	0.14229	0.110000	0.17919	0.573000	0.79308	GAG		0.403	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324	
AMACR	23600	broad.mit.edu	37	5	33989516	33989516	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:33989516C>A	ENST00000335606.6	-	5	919	c.831G>T	c.(829-831)gaG>gaT	p.E277D	AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.E262D|AMACR_ENST00000382085.3_Missense_Mutation_p.E277D	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	277			E -> K (in dbSNP:rs2278008). {ECO:0000269|PubMed:10655068, ECO:0000269|PubMed:11060344, ECO:0000269|PubMed:15880524, ECO:0000269|Ref.4}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.E277D(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCTTCGTCTTCTCTGCAAATA	0.448																																					p.E277D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G831T	5						.						82.0	77.0	79.0					5																	33989516		2203	4300	6503	34025273	SO:0001583	missense	23600	exon5			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.831G>T	5.37:g.33989516C>A	ENSP00000334424:p.Glu277Asp		34025273	NM_014324	A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823000	0.50739	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.51817	0.69;0.69;0.69	5.7	5.7	0.88788	CoA-transferase family III domain (2);	0.282172	0.40554	N	0.001063	T	0.45337	0.1337	L	0.49778	1.585	0.80722	D	1	B;B;B	0.21905	0.062;0.037;0.037	B;B;B	0.25614	0.062;0.017;0.017	T	0.33599	-0.9862	10	0.51188	T	0.08	-19.9153	14.3822	0.66919	0.0:0.9294:0.0:0.0706	.	277;262;277	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	D	277;277;262	ENSP00000334424:E277D;ENSP00000371517:E277D;ENSP00000424351:E262D	ENSP00000334424:E277D	E	-	3	2	AMACR	34025273	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.812000	0.38952	2.848000	0.98002	0.637000	0.83480	GAG		0.448	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324	
RAI14	26064	broad.mit.edu	37	5	34808727	34808727	+	Missense_Mutation	SNP	G	G	A	rs201315302		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34808727G>A	ENST00000265109.3	+	7	705	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.E132K|RAI14_ENST00000515799.1_Missense_Mutation_p.E143K|RAI14_ENST00000503673.1_Missense_Mutation_p.E140K|RAI14_ENST00000397449.1_Missense_Mutation_p.E133K|RAI14_ENST00000428746.2_Missense_Mutation_p.E140K|RAI14_ENST00000512629.1_Missense_Mutation_p.E140K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	140						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E140K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GATTCTCTGCGAACACAAGAG	0.478																																					p.E140K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	5						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	128.0	114.0	118.0		418,418,418,394,427,418	5.5	0.8	5		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	140/981,140/981,140/952,132/973,143/984,140/981	34808727	1,13005	2203	4300	6503	34844484	SO:0001583	missense	26064	exon7			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.418G>A	5.37:g.34808727G>A	ENSP00000265109:p.Glu140Lys		34844484	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480434	0.96307	0.0	1.16E-4	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.17;-0.25;-0.25	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.77089	0.4079	L	0.43554	1.36	0.51233	D	0.999916	D;D;P;D	0.89917	1.0;0.966;0.912;0.966	D;P;B;P	0.80764	0.994;0.503;0.335;0.503	T	0.78168	-0.2309	9	0.62326	D	0.03	-18.273	17.6004	0.88024	0.0:0.0:1.0:0.0	.	132;140;143;140	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	K	140;140;140;140;143;140;132;133	ENSP00000265109:E140K;ENSP00000422377:E140K;ENSP00000388725:E140K;ENSP00000422942:E140K;ENSP00000427123:E143K;ENSP00000425115:E140K;ENSP00000423854:E132K;ENSP00000380591:E133K	ENSP00000265109:E140K	E	+	1	0	RAI14	34844484	1.000000	0.71417	0.765000	0.31456	0.934000	0.57294	6.809000	0.75211	2.576000	0.86940	0.650000	0.86243	GAA		0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34823711	34823711	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34823711G>T	ENST00000265109.3	+	15	2051	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	RAI14_ENST00000506376.1_Missense_Mutation_p.E580D|RAI14_ENST00000515799.1_Missense_Mutation_p.E591D|RAI14_ENST00000503673.1_Missense_Mutation_p.E588D|RAI14_ENST00000397449.1_Missense_Mutation_p.E581D|RAI14_ENST00000428746.2_Missense_Mutation_p.E588D|RAI14_ENST00000512629.1_Missense_Mutation_p.E559D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	588						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E588D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGTTATTGAGAATATGAATA	0.363																																					p.E559D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1677T	5						.						57.0	61.0	60.0					5																	34823711		2203	4300	6503	34859468	SO:0001583	missense	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1764G>T	5.37:g.34823711G>T	ENSP00000265109:p.Glu588Asp		34859468	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012477	0.19277	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38722	1.18;1.12;1.18;1.18;1.18;1.22;1.21	5.42	3.65	0.41850	.	.	.	.	.	T	0.25568	0.0622	N	0.20986	0.625	0.36213	D	0.851471	B;B;B;B	0.21606	0.037;0.058;0.02;0.058	B;B;B;B	0.21151	0.024;0.017;0.033;0.017	T	0.14144	-1.0483	9	0.35671	T	0.21	-24.4833	5.1721	0.15116	0.2298:0.0:0.6159:0.1543	.	580;559;591;588	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	588;559;588;588;591;580;581	ENSP00000265109:E588D;ENSP00000422377:E559D;ENSP00000388725:E588D;ENSP00000422942:E588D;ENSP00000427123:E591D;ENSP00000423854:E580D;ENSP00000380591:E581D	ENSP00000265109:E588D	E	+	3	2	RAI14	34859468	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.821000	0.48065	0.681000	0.31386	0.555000	0.69702	GAG		0.363	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34829863	34829863	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34829863C>T	ENST00000265109.3	+	17	3113	c.2826C>T	c.(2824-2826)gtC>gtT	p.V942V	RAI14_ENST00000506376.1_Silent_p.V934V|RAI14_ENST00000515799.1_Silent_p.V945V|RAI14_ENST00000503673.1_Silent_p.V942V|RAI14_ENST00000397449.1_Silent_p.V935V|RAI14_ENST00000428746.2_Silent_p.V942V|RAI14_ENST00000512629.1_Silent_p.V913V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	942						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V942V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACCAGGAGGTCATATCAGTTT	0.368																																					p.V913V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2739T	5						.						127.0	114.0	119.0					5																	34829863		2203	4300	6503	34865620	SO:0001819	synonymous_variant	26064	exon16			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2826C>T	5.37:g.34829863C>T			34865620	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RAI14	26064	broad.mit.edu	37	5	34830835	34830835	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34830835C>A	ENST00000265109.3	+	18	3195	c.2908C>A	c.(2908-2910)Ctt>Att	p.L970I	RAI14_ENST00000506376.1_Missense_Mutation_p.L962I|RAI14_ENST00000515799.1_Missense_Mutation_p.L973I|RAI14_ENST00000503673.1_Missense_Mutation_p.L970I|RAI14_ENST00000397449.1_Missense_Mutation_p.L963I|RAI14_ENST00000428746.2_Missense_Mutation_p.L970I|RAI14_ENST00000512629.1_Missense_Mutation_p.L941I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	970						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L970I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAGCAAATCCTTACCATGTG	0.418																																					p.L941I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2821A	5						.						143.0	132.0	136.0					5																	34830835		2203	4300	6503	34866592	SO:0001583	missense	26064	exon17			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2908C>A	5.37:g.34830835C>A	ENSP00000265109:p.Leu970Ile		34866592	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953458	0.53293	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.50001	0.82;0.76;0.82;0.82;0.84;0.89;0.87	5.5	5.5	0.81552	.	.	.	.	.	T	0.53916	0.1826	L	0.48642	1.525	0.53005	D	0.999963	P;P;P;P	0.51537	0.946;0.911;0.946;0.911	P;B;P;B	0.55667	0.781;0.432;0.636;0.432	T	0.55547	-0.8124	9	0.87932	D	0	-7.0201	10.8968	0.47027	0.0:0.8851:0.0:0.1149	.	962;941;973;970	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	970;941;970;970;973;962;963	ENSP00000265109:L970I;ENSP00000422377:L941I;ENSP00000388725:L970I;ENSP00000422942:L970I;ENSP00000427123:L973I;ENSP00000423854:L962I;ENSP00000380591:L963I	ENSP00000265109:L970I	L	+	1	0	RAI14	34866592	0.964000	0.33143	0.995000	0.50966	0.996000	0.88848	1.940000	0.40223	2.755000	0.94549	0.655000	0.94253	CTT		0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
TTC23L	153657	broad.mit.edu	37	5	34863073	34863073	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).					p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512																																					p.T150T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G450A	5						.						114.0	112.0	113.0					5																	34863073		1986	4160	6146	34898830	SO:0001819	synonymous_variant	153657	exon5				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.450G>A	5.37:g.34863073G>A			34898830	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	CCDS54840.1																																																																																				0.512	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725	
DNAJC21	134218	broad.mit.edu	37	5	34949663	34949663	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:34949663G>T	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000382021.2_Missense_Mutation_p.D401Y			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D401Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			acctggcaaagattcatatct	0.408																																					p.D401Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1201T	5						.						79.0	75.0	77.0					5																	34949663		2183	4265	6448	34985420	SO:0001627	intron_variant	134218	exon10				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-612G>T	5.37:g.34949663G>T			34985420	NM_194283	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838159	0.16891	.	.	ENSG00000168724	ENST00000382021	T	0.49432	0.78	2.38	1.49	0.22878	.	1.188910	0.05798	N	0.611586	T	0.30417	0.0764	.	.	.	0.09310	N	1	P	0.34977	0.478	B	0.26094	0.066	T	0.23440	-1.0188	9	0.45353	T	0.12	.	4.9192	0.13862	0.1804:0.0:0.8196:0.0	.	401	Q5F1R6-2	.	Y	401	ENSP00000371451:D401Y	ENSP00000371451:D401Y	D	+	1	0	DNAJC21	34985420	0.000000	0.05858	0.005000	0.12908	0.278000	0.26855	0.055000	0.14229	0.553000	0.29044	0.484000	0.47621	GAT		0.408	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283	
PRLR	5618	broad.mit.edu	37	5	35068954	35068954	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35068954A>G	ENST00000382002.5	-	8	1138	c.712T>C	c.(712-714)Tgg>Cgg	p.W238R	PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.W238R|PRLR_ENST00000342362.5_Missense_Mutation_p.W137R|PRLR_ENST00000511486.1_Missense_Mutation_p.W137R|PRLR_ENST00000231423.3_Missense_Mutation_p.W238R|PRLR_ENST00000310101.5_Missense_Mutation_p.W238R|PRLR_ENST00000542609.1_Missense_Mutation_p.W238R|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000509934.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	238					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.W238R(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ACAGAGATCCACACGGTTGTA	0.408																																					p.W238R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T712C	5						.						118.0	107.0	110.0					5																	35068954		2203	4300	6503	35104711	SO:0001583	missense	5618	exon8				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.712T>C	5.37:g.35068954A>G	ENSP00000371432:p.Trp238Arg		35104711	NM_000949	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593570	0.66219	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;D;D;T	0.90004	-1.26;-1.2;-1.22;-2.6;-1.74;-2.6;-1.24	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.96962	0.9702	10	0.87932	D	0	-8.4821	16.3634	0.83296	1.0:0.0:0.0:0.0	.	238;137;238;238	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	R	238;238;238;137;238;137;238	ENSP00000231423:W238R;ENSP00000424841:W238R;ENSP00000441813:W238R;ENSP00000339213:W137R;ENSP00000371432:W238R;ENSP00000422556:W137R;ENSP00000309008:W238R	ENSP00000231423:W238R	W	-	1	0	PRLR	35104711	1.000000	0.71417	0.975000	0.42487	0.444000	0.32077	7.422000	0.80217	2.324000	0.78689	0.533000	0.62120	TGG		0.408	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2		
SPEF2	79925	broad.mit.edu	37	5	35654774	35654774	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35654774G>T	ENST00000356031.3	+	7	1078	c.924G>T	c.(922-924)gaG>gaT	p.E308D	SPEF2_ENST00000440995.2_Missense_Mutation_p.E308D|SPEF2_ENST00000509059.1_Missense_Mutation_p.E308D|SPEF2_ENST00000282469.6_Missense_Mutation_p.E308D	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	308					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E308D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAAGGGAGAAAAGACGGC	0.398																																					p.E308D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G924T	5						.						83.0	82.0	83.0					5																	35654774		2203	4300	6503	35690531	SO:0001583	missense	79925	exon7			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.924G>T	5.37:g.35654774G>T	ENSP00000348314:p.Glu308Asp		35690531	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157747	0.78114	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.72	2.98	0.34508	.	0.108387	0.64402	D	0.000010	T	0.40815	0.1132	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.80764	0.978;0.994;0.96	T	0.10567	-1.0624	10	0.59425	D	0.04	.	8.4933	0.33112	0.3951:0.0:0.6049:0.0	.	308;308;308	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	D	308	ENSP00000282469:E308D;ENSP00000348314:E308D;ENSP00000421593:E308D;ENSP00000412125:E308D	ENSP00000282469:E308D	E	+	3	2	SPEF2	35690531	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.271000	0.33098	0.348000	0.23949	0.655000	0.94253	GAG		0.398	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
SPEF2	79925	broad.mit.edu	37	5	35807268	35807268	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35807268G>A	ENST00000356031.3	+	36	5446	c.5292G>A	c.(5290-5292)aaG>aaA	p.K1764K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.K1759K|SPEF2_ENST00000303129.4_Silent_p.K561K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1764					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K1764K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGTGCCAAGAACCTGGAGC	0.353																																					p.K1764K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5292A	5						.						137.0	133.0	134.0					5																	35807268		1814	4079	5893	35843025	SO:0001819	synonymous_variant	79925	exon36			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5292G>A	5.37:g.35807268G>A			35843025	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	CCDS43309.1																																																																																				0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
IL7R	3575	broad.mit.edu	37	5	35860956	35860956	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35860956G>T	ENST00000303115.3	+	2	214	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	IL7R_ENST00000343305.4_Missense_Mutation_p.D29Y|IL7R_ENST00000506850.1_Missense_Mutation_p.D29Y|IL7R_ENST00000511982.1_Missense_Mutation_p.D29Y|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	29					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.D29Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTCCCCAGGAGACTTGGAAGA	0.438			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																														p.D29Y			Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85T	5						.						148.0	139.0	142.0					5																	35860956		2203	4299	6502	35896713	SO:0001583	missense	3575	exon2			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.85G>T	5.37:g.35860956G>T	ENSP00000306157:p.Asp29Tyr		35896713	NM_002185	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180051	0.78564	.	.	ENSG00000168685	ENST00000508941;ENST00000515665;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	6.17	6.17	0.99709	.	0.767928	0.12510	N	0.462566	D	0.87018	0.6073	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.71184	0.972;0.556	D	0.84824	0.0798	10	0.62326	D	0.03	-6.3761	16.3795	0.83443	0.0:0.0:1.0:0.0	.	29;29	D6RGV2;P16871	.;IL7RA_HUMAN	Y	29	ENSP00000426426:D29Y;ENSP00000425538:D29Y;ENSP00000306157:D29Y;ENSP00000345819:D29Y;ENSP00000421207:D29Y;ENSP00000425309:D29Y	ENSP00000306157:D29Y	D	+	1	0	IL7R	35896713	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	GAC		0.438	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
CAPSL	133690	broad.mit.edu	37	5	35904706	35904706	+	Missense_Mutation	SNP	C	C	T	rs568452046		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35904706C>T	ENST00000397367.2	-	5	694	c.568G>A	c.(568-570)Gca>Aca	p.A190T	CAPSL_ENST00000397366.1_Missense_Mutation_p.A190T	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	190	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.A190T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAATGGATGCGCTCACACCT	0.498																																					p.A190T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G568A	5						.						119.0	112.0	115.0					5																	35904706		2203	4300	6503	35940463	SO:0001583	missense	133690	exon5			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.568G>A	5.37:g.35904706C>T	ENSP00000380524:p.Ala190Thr		35940463	NM_144647		Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061954	0.76187	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623	T;T;D	0.92545	-0.31;-0.31;-3.06	6.04	6.04	0.98038	.	0.047892	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89287	3.02	0.80722	D	1	D	0.54207	0.965	B	0.41666	0.363	D	0.94498	0.7707	10	0.66056	D	0.02	-17.928	20.5948	0.99439	0.0:1.0:0.0:0.0	.	190	Q8WWF8	CAPSL_HUMAN	T	190	ENSP00000380524:A190T;ENSP00000380523:A190T;ENSP00000424806:A190T	ENSP00000380523:A190T	A	-	1	0	CAPSL	35940463	1.000000	0.71417	0.580000	0.28601	0.414000	0.31173	7.463000	0.80869	2.873000	0.98535	0.563000	0.77884	GCA		0.498	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	
CAPSL	133690	broad.mit.edu	37	5	35910046	35910046	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35910046C>A	ENST00000397367.2	-	4	573	c.447G>T	c.(445-447)caG>caT	p.Q149H	CAPSL_ENST00000397366.1_Missense_Mutation_p.Q149H|CAPSL_ENST00000514524.1_Missense_Mutation_p.Q149H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	149						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.Q149H(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATTCCCCATTCTGGTACTTTG	0.373																																					p.Q149H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	5						.						199.0	198.0	199.0					5																	35910046		2203	4300	6503	35945803	SO:0001583	missense	133690	exon4			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.447G>T	5.37:g.35910046C>A	ENSP00000380524:p.Gln149His		35945803	NM_144647		Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727726	0.48833	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.67865	-0.29;-0.29;-0.29;0.57	5.57	-0.983	0.10263	EF-hand-like domain (1);	0.107611	0.64402	D	0.000004	T	0.71617	0.3361	L	0.58583	1.82	0.49389	D	0.999789	P	0.40681	0.727	P	0.56343	0.796	T	0.67860	-0.5561	10	0.37606	T	0.19	-17.324	11.6176	0.51098	0.0:0.4887:0.0:0.5113	.	149	Q8WWF8	CAPSL_HUMAN	H	149	ENSP00000380524:Q149H;ENSP00000380523:Q149H;ENSP00000424806:Q149H;ENSP00000421018:Q149H	ENSP00000380523:Q149H	Q	-	3	2	CAPSL	35945803	0.958000	0.32768	0.997000	0.53966	0.622000	0.37654	0.105000	0.15333	-0.117000	0.11872	-0.391000	0.06502	CAG		0.373	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	
UGT3A1	133688	broad.mit.edu	37	5	35954310	35954310	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35954310C>A	ENST00000274278.3	-	7	1923	c.1566G>T	c.(1564-1566)aaG>aaT	p.K522N	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	522						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.K522N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCTCATGTCTTCTTCACCT	0.602																																					p.K522N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1566T	5						.						85.0	74.0	78.0					5																	35954310		2203	4300	6503	35990067	SO:0001583	missense	133688	exon7				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1566G>T	5.37:g.35954310C>A	ENSP00000274278:p.Lys522Asn		35990067	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	10.17	1.275998	0.23307	.	.	ENSG00000145626	ENST00000274278	T	0.62788	-0.0	3.35	1.46	0.22682	.	2.779510	0.02771	U	0.119702	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	P	0.41313	0.745	B	0.33196	0.159	T	0.42783	-0.9431	10	0.87932	D	0	.	6.7529	0.23497	0.0:0.5695:0.0:0.4305	.	522	Q6NUS8	UD3A1_HUMAN	N	522	ENSP00000274278:K522N	ENSP00000274278:K522N	K	-	3	2	UGT3A1	35990067	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.207000	0.17395	0.196000	0.20367	-1.026000	0.02426	AAG		0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
UGT3A1	133688	broad.mit.edu	37	5	35965933	35965933	+	Missense_Mutation	SNP	G	G	A	rs549468369		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:35965933G>A	ENST00000274278.3	-	4	755	c.398C>T	c.(397-399)tCc>tTc	p.S133F	UGT3A1_ENST00000507113.1_Missense_Mutation_p.S99F|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S133F|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S79F|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	133						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.S133F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCTTTAAGGAATCCATTAT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17866	0.0		0.0	False		,,,				2504	0.001				p.S133F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	5						.						48.0	47.0	47.0					5																	35965933		2203	4300	6503	36001690	SO:0001583	missense	133688	exon4				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.398C>T	5.37:g.35965933G>A	ENSP00000274278:p.Ser133Phe		36001690	NM_152404	G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244097	0.22796	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	2.93	-0.304	0.12788	.	0.238761	0.34777	N	0.003681	T	0.36110	0.0955	N	0.26162	0.8	0.09310	N	1	B;B;B;B	0.19200	0.034;0.005;0.02;0.005	B;B;B;B	0.21360	0.034;0.012;0.021;0.02	T	0.13737	-1.0498	10	0.44086	T	0.13	.	4.0439	0.09764	0.3404:0.1851:0.4746:0.0	.	99;133;79;133	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	F	133;133;99;79	ENSP00000274278:S133F;ENSP00000427079:S133F;ENSP00000426100:S99F;ENSP00000328033:S79F	ENSP00000274278:S133F	S	-	2	0	UGT3A1	36001690	0.000000	0.05858	0.011000	0.14972	0.594000	0.36715	-0.240000	0.08952	0.023000	0.15187	0.313000	0.20887	TCC		0.338	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	
UGT3A2	167127	broad.mit.edu	37	5	36037990	36037990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36037990C>A	ENST00000282507.3	-	6	1305	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.E368*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.E100*|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	402					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E402*(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)			TTTTTGGCTTCTACTCGGACC	0.483																																					p.E368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1102T	5						.						149.0	144.0	145.0					5																	36037990		2203	4300	6503	36073747	SO:0001587	stop_gained	167127	exon5				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1204G>T	5.37:g.36037990C>A	ENSP00000282507:p.Glu402*		36073747	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Nonsense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550027	0.86127	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	.	.	.	3.32	1.53	0.23141	.	0.167830	0.38326	U	0.001733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7063	0.23252	0.0:0.6768:0.0:0.3232	.	.	.	.	X	402;368;100	.	ENSP00000282507:E402X	E	-	1	0	UGT3A2	36073747	0.016000	0.18221	0.761000	0.31378	0.920000	0.55202	0.151000	0.16283	0.421000	0.25980	0.563000	0.77884	GAA		0.483	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
UGT3A2	167127	broad.mit.edu	37	5	36039684	36039684	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36039684G>A	ENST00000282507.3	-	5	1071	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P290S|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P22S|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	324					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.P324S(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)			ACCCCTTGGGGTAGGTGAGCA	0.498																																					p.P290S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	5						.						143.0	131.0	135.0					5																	36039684		2203	4300	6503	36075441	SO:0001583	missense	167127	exon4				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.970C>T	5.37:g.36039684G>A	ENSP00000282507:p.Pro324Ser		36075441	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355297	0.24512	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.67865	-0.29;-0.29;-0.29	3.18	-2.47	0.06442	.	0.074676	0.53938	N	0.000051	T	0.57740	0.2074	L	0.60904	1.88	0.09310	N	1	B;B	0.15141	0.006;0.012	B;B	0.26416	0.069;0.035	T	0.53429	-0.8440	10	0.56958	D	0.05	.	9.0307	0.36258	0.5236:0.0:0.4764:0.0	.	290;324	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	324;290;22	ENSP00000282507:P324S;ENSP00000427404:P290S;ENSP00000445367:P22S	ENSP00000282507:P324S	P	-	1	0	UGT3A2	36075441	0.963000	0.33076	0.000000	0.03702	0.276000	0.26787	1.521000	0.35910	-0.639000	0.05502	-0.216000	0.12614	CCC		0.498	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
LMBRD2	92255	broad.mit.edu	37	5	36105207	36105207	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36105207T>C	ENST00000296603.4	-	17	2452	c.1990A>G	c.(1990-1992)Aca>Gca	p.T664A		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	664						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T664A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAGTGAATGTTTCTGCATTA	0.398																																					p.T664A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1990G	5						.						165.0	156.0	159.0					5																	36105207		2203	4300	6503	36140964	SO:0001583	missense	92255	exon17				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1990A>G	5.37:g.36105207T>C	ENSP00000296603:p.Thr664Ala		36140964	NM_001007527	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.068616	0.36470	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.49	3.1	0.35709	.	0.357359	0.31020	N	0.008413	T	0.44705	0.1306	L	0.47716	1.5	0.39544	D	0.968864	B	0.02656	0.0	B	0.04013	0.001	T	0.32025	-0.9922	9	0.38643	T	0.18	-2.76	5.1566	0.15038	0.1636:0.1521:0.0:0.6844	.	664	Q68DH5	LMBD2_HUMAN	A	664;558	.	ENSP00000296603:T664A	T	-	1	0	LMBRD2	36140964	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.750000	0.26334	0.468000	0.27243	0.454000	0.30748	ACA		0.398	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	
LMBRD2	92255	broad.mit.edu	37	5	36124361	36124361	+	Missense_Mutation	SNP	G	G	A	rs139182630		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36124361G>A	ENST00000296603.4	-	7	1216	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	252						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R252C(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCACTTTACGAACCTCCTAT	0.279																																					p.R252C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C754T	5						.	G	CYS/ARG	0,4386		0,0,2193	47.0	45.0	46.0		754	4.8	1.0	5	dbSNP_134	46	2,8558	2.2+/-6.3	0,2,4278	no	missense	LMBRD2	NM_001007527.1	180	0,2,6471	AA,AG,GG		0.0234,0.0,0.0154	probably-damaging	252/696	36124361	2,12944	2193	4280	6473	36160118	SO:0001583	missense	92255	exon7				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.754C>T	5.37:g.36124361G>A	ENSP00000296603:p.Arg252Cys		36160118	NM_001007527	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914624	0.72983	0.0	2.34E-4	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.32753	1.44	5.61	4.75	0.60458	LMBR1-like membrane protein (1);	0.048701	0.85682	N	0.000000	T	0.41259	0.1151	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	P	0.50270	0.636	T	0.30090	-0.9990	10	0.40728	T	0.16	-5.6355	14.5522	0.68075	0.0707:0.0:0.9293:0.0	.	252	Q68DH5	LMBD2_HUMAN	C	252;146	ENSP00000296603:R252C	ENSP00000296603:R252C	R	-	1	0	LMBRD2	36160118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.511000	0.60462	1.383000	0.46405	0.585000	0.79938	CGT		0.279	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527	
SLC1A3	6507	broad.mit.edu	37	5	36629636	36629636	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36629636T>G	ENST00000265113.4	+	3	742	c.266T>G	c.(265-267)aTg>aGg	p.M89R	SLC1A3_ENST00000381918.3_Missense_Mutation_p.M89R	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	89					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.M89R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAACTTCTGATGAGGATGTTA	0.413																																					p.M89R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T266G	5						.						275.0	253.0	260.0					5																	36629636		2203	4300	6503	36665393	SO:0001583	missense	6507	exon2				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.266T>G	5.37:g.36629636T>G	ENSP00000265113:p.Met89Arg		36665393	NM_001166695	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.235816	0.79800	.	.	ENSG00000079215	ENST00000265113;ENST00000513903;ENST00000505202;ENST00000513646;ENST00000381918	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.92	5.92	0.95590	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.968;0.997	D	0.86464	0.1781	10	0.87932	D	0	-34.1632	16.3526	0.83220	0.0:0.0:0.0:1.0	.	89;89	Q4JCQ8;P43003	.;EAA1_HUMAN	R	89	ENSP00000265113:M89R;ENSP00000427203:M89R;ENSP00000424986:M89R;ENSP00000420992:M89R;ENSP00000371343:M89R	ENSP00000265113:M89R	M	+	2	0	SLC1A3	36665393	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.255000	0.74692	0.533000	0.62120	ATG		0.413	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
SLC1A3	6507	broad.mit.edu	37	5	36677244	36677244	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36677244C>A	ENST00000265113.4	+	6	1294	c.818C>A	c.(817-819)tCt>tAt	p.S273Y	SLC1A3_ENST00000381918.3_Missense_Mutation_p.S273Y|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	273					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.S273Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGATTCTCTTAACGAA	0.418																																					p.S273Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C818A	5						.						116.0	114.0	114.0					5																	36677244		2203	4300	6503	36713001	SO:0001583	missense	6507	exon5				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.818C>A	5.37:g.36677244C>A	ENSP00000265113:p.Ser273Tyr		36713001	NM_001166695	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865057	0.51482	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.61742	0.08;0.08	5.92	1.71	0.24356	.	0.435856	0.30658	N	0.009160	T	0.72260	0.3438	M	0.81497	2.545	0.39452	D	0.967413	P;P	0.39282	0.666;0.645	P;B	0.52343	0.696;0.445	T	0.77400	-0.2602	10	0.36615	T	0.2	-5.6039	18.7288	0.91726	0.0:0.5144:0.4856:0.0	.	273;273	Q4JCQ8;P43003	.;EAA1_HUMAN	Y	273;221;273	ENSP00000265113:S273Y;ENSP00000371343:S273Y	ENSP00000265113:S273Y	S	+	2	0	SLC1A3	36713001	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.177000	0.50871	0.805000	0.34159	-0.165000	0.13383	TCT		0.418	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
SLC1A3	6507	broad.mit.edu	37	5	36680569	36680569	+	Silent	SNP	C	C	T	rs372548093		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36680569C>T	ENST00000265113.4	+	8	1643	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC1A3_ENST00000381918.3_Silent_p.F389F|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	389					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.F389F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCACCAGATTCGTGCTCCCCG	0.502																																					p.F389F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	5						.	C	,	1,4405	2.1+/-5.4	0,1,2202	106.0	92.0	97.0		1167,1167	-3.2	1.0	5		97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC1A3	NM_001166695.1,NM_004172.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	389/498,389/543	36680569	1,13005	2203	4300	6503	36716326	SO:0001819	synonymous_variant	6507	exon7				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1167C>T	5.37:g.36680569C>T			36716326	NM_001166695	B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	CCDS3919.1																																																																																				0.502	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172	
NIPBL	25836	broad.mit.edu	37	5	36955643	36955643	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36955643G>A	ENST00000282516.8	+	3	633	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R45Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	45					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.R45Q(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTAATGCACGAATAGCAGAA	0.408																																					p.R45Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G134A	5						.						140.0	129.0	132.0					5																	36955643		2203	4300	6503	36991400	SO:0001583	missense	25836	exon3			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.134G>A	5.37:g.36955643G>A	ENSP00000282516:p.Arg45Gln		36991400	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652141	0.96724	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96856	-4.13;-4.15	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97986	0.9337	M	0.75264	2.295	0.47276	D	0.999373	D;D	0.71674	0.997;0.998	D;D	0.75484	0.968;0.986	D	0.98561	1.0641	10	0.66056	D	0.02	.	19.2931	0.94110	0.0:0.0:1.0:0.0	.	45;45	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	45	ENSP00000282516:R45Q;ENSP00000406266:R45Q	ENSP00000282516:R45Q	R	+	2	0	NIPBL	36991400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.416000	0.97383	2.567000	0.86603	0.585000	0.79938	CGA		0.408	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NIPBL	25836	broad.mit.edu	37	5	36985275	36985275	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36985275G>A	ENST00000282516.8	+	10	2492	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E665K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	665					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.E665K(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAACAAAACGAGAGCACCAT	0.343																																					p.E665K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1993A	5						.						97.0	96.0	96.0					5																	36985275		2203	4300	6503	37021032	SO:0001583	missense	25836	exon10			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1993G>A	5.37:g.36985275G>A	ENSP00000282516:p.Glu665Lys		37021032	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.589	1.125528	0.20959	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95035	-3.45;-3.59	5.98	5.98	0.97165	.	0.141721	0.49305	D	0.000152	D	0.89174	0.6640	N	0.19112	0.55	0.36041	D	0.8401	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.86366	0.1720	10	0.33141	T	0.24	.	14.2681	0.66135	0.0714:0.0:0.9286:0.0	.	665;665	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	K	665	ENSP00000282516:E665K;ENSP00000406266:E665K	ENSP00000282516:E665K	E	+	1	0	NIPBL	37021032	1.000000	0.71417	0.994000	0.49952	0.423000	0.31445	4.250000	0.58772	2.835000	0.97688	0.650000	0.86243	GAG		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NIPBL	25836	broad.mit.edu	37	5	36985581	36985581	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:36985581G>A	ENST00000282516.8	+	10	2798	c.2299G>A	c.(2299-2301)Gat>Aat	p.D767N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.D767N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	767					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D767N(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATAGGAGGGATTCTGGAAA	0.423																																					p.D767N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2299A	5						.						79.0	84.0	82.0					5																	36985581		2203	4298	6501	37021338	SO:0001583	missense	25836	exon10			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2299G>A	5.37:g.36985581G>A	ENSP00000282516:p.Asp767Asn		37021338	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115288	0.20795	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93604	-3.25;-3.25	5.98	5.98	0.97165	.	0.053006	0.64402	D	0.000001	D	0.89787	0.6816	N	0.24115	0.695	0.40003	D	0.975196	P;P	0.42518	0.675;0.782	B;B	0.40256	0.107;0.324	D	0.89836	0.3999	10	0.46703	T	0.11	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	767;767	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	767	ENSP00000282516:D767N;ENSP00000406266:D767N	ENSP00000282516:D767N	D	+	1	0	NIPBL	37021338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.246000	0.65411	2.835000	0.97688	0.650000	0.86243	GAT		0.423	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NIPBL	25836	broad.mit.edu	37	5	37061059	37061059	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37061059A>G	ENST00000282516.8	+	45	8298	c.7799A>G	c.(7798-7800)gAc>gGc	p.D2600G	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2600G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2600					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D2600G(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGCGGAGTGACATGGCTAAT	0.363																																					p.D2600G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A7799G	5						.						96.0	95.0	95.0					5																	37061059		2203	4300	6503	37096816	SO:0001583	missense	25836	exon45			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7799A>G	5.37:g.37061059A>G	ENSP00000282516:p.Asp2600Gly		37096816	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.86|13.86	2.364126|2.364126	0.41902|0.41902	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000282516;ENST00000448238|ENST00000507919	D;D|.	0.93307|.	-3.2;-3.2|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.058454|.	0.64402|.	D|.	0.000002|.	T|T	0.50292|0.50292	0.1607|0.1607	N|N	0.20685|0.20685	0.6|0.6	0.39643|0.39643	D|D	0.970349|0.970349	B;B;B|.	0.09022|.	0.001;0.001;0.002|.	B;B;B|.	0.10450|.	0.004;0.004;0.005|.	T|T	0.50381|0.50381	-0.8835|-0.8835	10|5	0.16896|.	T|.	0.51|.	-12.5467|-12.5467	14.7964|14.7964	0.69881|0.69881	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2600;2600;2600|.	Q6IEH8;Q6KC79;Q6KC79-2|.	.;NIPBL_HUMAN;.|.	G|A	2600|106	ENSP00000282516:D2600G;ENSP00000406266:D2600G|.	ENSP00000282516:D2600G|.	D|T	+|+	2|1	0|0	NIPBL|NIPBL	37096816|37096816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.807000|6.807000	0.75201|0.75201	1.944000|1.944000	0.56390|0.56390	0.482000|0.482000	0.46254|0.46254	GAC|ACA		0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37108424	37108424	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37108424G>T	ENST00000508244.1	-	50	9481	c.9388C>A	c.(9388-9390)Ctt>Att	p.L3130I	C5orf42_ENST00000274258.7_Missense_Mutation_p.L2028I|C5orf42_ENST00000425232.2_Missense_Mutation_p.L3130I			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3130						integral component of membrane (GO:0016021)		p.L2028I(1)|p.L3130I(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTCATGAAGAATCTTATGG	0.408																																					p.L3130I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9388A	5						.						120.0	115.0	117.0					5																	37108424		2203	4300	6503	37144181	SO:0001583	missense	65250	exon51				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9388C>A	5.37:g.37108424G>T	ENSP00000421690:p.Leu3130Ile		37144181	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625406	0.66901	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.78	3.91	0.45181	.	0.100510	0.41001	D	0.000974	T	0.61887	0.2383	M	0.71036	2.16	0.09310	N	0.999996	P;P	0.52061	0.95;0.944	P;P	0.48270	0.562;0.572	T	0.59568	-0.7430	10	0.87932	D	0	.	11.2159	0.48825	0.0:0.185:0.815:0.0	.	3130;2028	E9PH94;Q9H799	.;CE042_HUMAN	I	3130;3130;2028;2196	ENSP00000421690:L3130I;ENSP00000389014:L3130I;ENSP00000274258:L2028I;ENSP00000424223:L2196I	ENSP00000274258:L2028I	L	-	1	0	C5orf42	37144181	0.996000	0.38824	0.056000	0.19401	0.031000	0.12232	3.428000	0.52792	1.359000	0.45940	0.655000	0.94253	CTT		0.408	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37165689	37165689	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37165689C>A	ENST00000508244.1	-	35	7578	c.7485G>T	c.(7483-7485)gaG>gaT	p.E2495D	C5orf42_ENST00000274258.7_Missense_Mutation_p.E1375D|C5orf42_ENST00000425232.2_Missense_Mutation_p.E2495D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2495						integral component of membrane (GO:0016021)		p.E1375D(1)|p.E2495D(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTATGGAATTCTCTGGTCGAA	0.348																																					p.E2495D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7485T	5						.						114.0	108.0	110.0					5																	37165689		2202	4300	6502	37201446	SO:0001583	missense	65250	exon36				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7485G>T	5.37:g.37165689C>A	ENSP00000421690:p.Glu2495Asp		37201446	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	7.929	0.740183	0.15642	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.73;1.73;1.67;1.69	5.3	3.38	0.38709	.	0.457271	0.18653	N	0.134937	T	0.19927	0.0479	L	0.34521	1.04	0.24544	N	0.994059	B;B	0.14438	0.004;0.01	B;B	0.16289	0.011;0.015	T	0.19386	-1.0307	10	0.15952	T	0.53	.	8.1883	0.31352	0.4159:0.4428:0.1413:0.0	.	2495;1375	E9PH94;Q9H799	.;CE042_HUMAN	D	2495;2495;1375;1543;1375	ENSP00000421690:E2495D;ENSP00000389014:E2495D;ENSP00000274258:E1375D;ENSP00000424223:E1543D	ENSP00000274258:E1375D	E	-	3	2	C5orf42	37201446	0.001000	0.12720	0.038000	0.18304	0.335000	0.28730	-0.591000	0.05753	1.205000	0.43262	0.462000	0.41574	GAG		0.348	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37167173	37167173	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37167173C>T	ENST00000508244.1	-	34	7469	c.7376G>A	c.(7375-7377)aGa>aAa	p.R2459K	C5orf42_ENST00000274258.7_Missense_Mutation_p.R1339K|C5orf42_ENST00000425232.2_Missense_Mutation_p.R2459K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2459						integral component of membrane (GO:0016021)		p.R1339K(1)|p.R2459K(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCCTTGTCTTACTTCAGG	0.303																																					p.R2459K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7376A	5						.						182.0	169.0	174.0					5																	37167173		2203	4300	6503	37202930	SO:0001583	missense	65250	exon35				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7376G>A	5.37:g.37167173C>T	ENSP00000421690:p.Arg2459Lys		37202930	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052895	0.36181	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25579	1.82;1.82;1.79;1.8	4.47	-1.18	0.09617	.	0.730125	0.12358	N	0.475913	T	0.16385	0.0394	L	0.48642	1.525	0.09310	N	1	B;B	0.20550	0.007;0.046	B;B	0.17722	0.007;0.019	T	0.25537	-1.0129	10	0.30854	T	0.27	.	1.732	0.02934	0.1246:0.3774:0.2578:0.2402	.	2459;1339	E9PH94;Q9H799	.;CE042_HUMAN	K	2459;2459;1339;1507;1339	ENSP00000421690:R2459K;ENSP00000389014:R2459K;ENSP00000274258:R1339K;ENSP00000424223:R1507K	ENSP00000274258:R1339K	R	-	2	0	C5orf42	37202930	0.989000	0.36119	0.050000	0.19076	0.965000	0.64279	0.233000	0.17911	-0.059000	0.13154	0.591000	0.81541	AGA		0.303	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37168933	37168933	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37168933C>A	ENST00000508244.1	-	33	7286	c.7193G>T	c.(7192-7194)aGa>aTa	p.R2398I	C5orf42_ENST00000274258.7_Missense_Mutation_p.R1278I|C5orf42_ENST00000425232.2_Missense_Mutation_p.R2398I			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2398						integral component of membrane (GO:0016021)		p.R1278I(1)|p.R2398I(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAATGACAATCTTGGGTATTT	0.363																																					p.R2398I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7193T	5						.						172.0	173.0	173.0					5																	37168933		2203	4300	6503	37204690	SO:0001583	missense	65250	exon34				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.7193G>T	5.37:g.37168933C>A	ENSP00000421690:p.Arg2398Ile		37204690	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959737	0.53400	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.24538	1.86;1.86;1.85;1.85	4.96	0.653	0.17828	.	0.903077	0.09324	N	0.817859	T	0.22126	0.0533	L	0.38175	1.15	0.09310	N	1	B;B	0.27791	0.189;0.189	B;B	0.32533	0.147;0.147	T	0.34601	-0.9822	10	0.52906	T	0.07	.	8.4991	0.33148	0.0:0.6753:0.0:0.3247	.	2398;1278	E9PH94;Q9H799	.;CE042_HUMAN	I	2398;2398;1278;1446;1278	ENSP00000421690:R2398I;ENSP00000389014:R2398I;ENSP00000274258:R1278I;ENSP00000424223:R1446I	ENSP00000274258:R1278I	R	-	2	0	C5orf42	37204690	0.023000	0.18921	0.000000	0.03702	0.334000	0.28698	1.363000	0.34159	-0.112000	0.11979	-0.152000	0.13540	AGA		0.363	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37180183	37180183	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37180183C>T	ENST00000508244.1	-	27	5766	c.5673G>A	c.(5671-5673)gaG>gaA	p.E1891E	C5orf42_ENST00000274258.7_Silent_p.E771E|C5orf42_ENST00000425232.2_Silent_p.E1891E			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1891						integral component of membrane (GO:0016021)		p.E771E(1)|p.E1891E(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTAAAAGATTCTCATCAATAT	0.279																																					p.E1891E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5673A	5						.						51.0	56.0	55.0					5																	37180183		2181	4255	6436	37215940	SO:0001819	synonymous_variant	65250	exon28				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5673G>A	5.37:g.37180183C>T			37215940	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				0.279	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37187933	37187933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37187933C>A	ENST00000508244.1	-	21	3916	c.3823G>T	c.(3823-3825)Gaa>Taa	p.E1275*	C5orf42_ENST00000274258.7_Nonsense_Mutation_p.E156*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1275*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1275						integral component of membrane (GO:0016021)		p.E156*(1)|p.E1275*(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACAAAGTTCTCTGAAGCAA	0.353																																					p.E1275X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3823T	5						.						77.0	73.0	74.0					5																	37187933		2203	4300	6503	37223690	SO:0001587	stop_gained	65250	exon22				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3823G>T	5.37:g.37187933C>A	ENSP00000421690:p.Glu1275*		37223690	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	58	30.863966	0.99978	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.49	4.61	0.57282	.	0.153820	0.38959	N	0.001508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.8438	0.78871	0.137:0.863:0.0:0.0	.	.	.	.	X	1275;1275;156;323;156	.	ENSP00000274258:E156X	E	-	1	0	C5orf42	37223690	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	6.568000	0.73987	1.425000	0.47237	0.491000	0.48974	GAA		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
C5orf42	65250	broad.mit.edu	37	5	37201844	37201844	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37201844A>G	ENST00000508244.1	-	18	3449	c.3356T>C	c.(3355-3357)gTt>gCt	p.V1119A	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.V1119A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1119						integral component of membrane (GO:0016021)		p.V1119A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCGGCCATAACTGATGCTTT	0.388																																					p.V1119A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3356C	5						.						91.0	90.0	90.0					5																	37201844		2203	4300	6503	37237601	SO:0001583	missense	65250	exon19				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3356T>C	5.37:g.37201844A>G	ENSP00000421690:p.Val1119Ala		37237601	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	5'UTR	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867569	0.32977	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000514429	T;T;T	0.28454	1.61;1.61;1.61	5.63	0.412	0.16397	.	.	.	.	.	T	0.19685	0.0473	L	0.29908	0.895	0.80722	D	1	B	0.24043	0.096	B	0.25884	0.064	T	0.08066	-1.0740	9	0.21540	T	0.41	.	9.6363	0.39809	0.7359:0.0:0.2641:0.0	.	1119	E9PH94	.	A	1119;1119;167	ENSP00000421690:V1119A;ENSP00000389014:V1119A;ENSP00000424223:V167A	ENSP00000389014:V1119A	V	-	2	0	C5orf42	37237601	1.000000	0.71417	0.551000	0.28230	0.986000	0.74619	2.715000	0.47210	-0.139000	0.11414	0.397000	0.26171	GTT		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
WDR70	55100	broad.mit.edu	37	5	37703101	37703101	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37703101C>T	ENST00000265107.4	+	13	1484	c.1328C>T	c.(1327-1329)tCt>tTt	p.S443F	RNU6-484P_ENST00000384016.1_RNA|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	443							enzyme binding (GO:0019899)	p.S443F(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTGGTACATCTATTCAAAGA	0.413																																					p.S443F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1328T	5						.						119.0	110.0	113.0					5																	37703101		2203	4300	6503	37738858	SO:0001583	missense	55100	exon13			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1328C>T	5.37:g.37703101C>T	ENSP00000265107:p.Ser443Phe		37738858	NM_018034	Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150167	0.94645	.	.	ENSG00000082068	ENST00000265107	T	0.71698	-0.59	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84674	0.5524	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	D	0.83781	0.0225	10	0.40728	T	0.16	.	19.6155	0.95632	0.0:1.0:0.0:0.0	.	443	Q9NW82	WDR70_HUMAN	F	443	ENSP00000265107:S443F	ENSP00000265107:S443F	S	+	2	0	WDR70	37738858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.036000	0.76524	2.801000	0.96364	0.650000	0.86243	TCT		0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	
WDR70	55100	broad.mit.edu	37	5	37727010	37727010	+	Silent	SNP	C	C	T	rs375996876		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37727010C>T	ENST00000265107.4	+	17	1896	c.1740C>T	c.(1738-1740)caC>caT	p.H580H		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	580							enzyme binding (GO:0019899)	p.H580H(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGAACCCACGGGGGCACTC	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17228	0.0		0.0	False		,,,				2504	0.0				p.H580H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1740T	5						.	C		0,4406		0,0,2203	105.0	105.0	105.0		1740	-7.0	0.9	5		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR70	NM_018034.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		580/655	37727010	1,13005	2203	4300	6503	37762767	SO:0001819	synonymous_variant	55100	exon17			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1740C>T	5.37:g.37727010C>T			37762767	NM_018034	Q9H053	Silent	SNP	ENST00000265107.4	37	CCDS34147.1																																																																																				0.448	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	
GDNF	2668	broad.mit.edu	37	5	37815942	37815942	+	Silent	SNP	G	G	A	rs368244196		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:37815942G>A	ENST00000326524.2	-	3	646	c.447C>T	c.(445-447)tgC>tgT	p.C149C	GDNF_ENST00000344622.4_Silent_p.C123C|GDNF_ENST00000381826.4_Silent_p.C140C|GDNF_ENST00000427982.1_Silent_p.C166C|GDNF_ENST00000515058.1_Silent_p.C123C	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	149					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C149C(1)		NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CAGCTGCATCGCAAGAGCCGC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17174	0.001		0.0	False		,,,				2504	0.0				p.C166C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	5						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	116.0	116.0		447,498,420,369	-4.9	0.6	5		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GDNF	NM_000514.3,NM_001190468.1,NM_001190469.1,NM_199231.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	149/212,166/229,140/203,123/186	37815942	1,13005	2203	4300	6503	37851699	SO:0001819	synonymous_variant	2668	exon3				CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.447C>T	5.37:g.37815942G>A			37851699	NM_001190468	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	CCDS3922.1																																																																																				0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514	
EGFLAM	133584	broad.mit.edu	37	5	38435318	38435318	+	Missense_Mutation	SNP	C	C	T	rs115665295		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:38435318C>T	ENST00000354891.3	+	16	2592	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	EGFLAM_ENST00000336740.6_Missense_Mutation_p.S515L|EGFLAM_ENST00000322350.5_Missense_Mutation_p.S749L|EGFLAM_ENST00000397202.2_Missense_Mutation_p.S115L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	749	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S749L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AAGAAGAACTCGGGTGTCCTG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17143	0.0		0.001	False		,,,				2504	0.0				p.S515L	Colon(62;485 1295 3347 17454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1544T	5						.	C	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	105.0	104.0	104.0		2246,2246,1544	5.8	0.9	5	dbSNP_132	104	9,8591	7.7+/-29.5	0,9,4291	yes	missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	145,145,145	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	749/1018,749/1010,515/776	38435318	9,12997	2203	4300	6503	38471075	SO:0001583	missense	133584	exon11			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2246C>T	5.37:g.38435318C>T	ENSP00000346964:p.Ser749Leu		38471075	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	CCDS56363.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.586	0.883514	0.17467	0.0	0.001047	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.81	5.81	0.92471	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.058106	0.64402	D	0.000001	T	0.78104	0.4231	L	0.37897	1.145	0.80722	D	1	D;D;B	0.62365	0.989;0.991;0.376	P;P;B	0.51385	0.538;0.668;0.031	T	0.73610	-0.3928	10	0.23891	T	0.37	0.3086	20.0804	0.97772	0.0:1.0:0.0:0.0	.	515;749;749	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	L	749;749;515;115;515	ENSP00000346964:S749L;ENSP00000313084:S749L;ENSP00000337607:S515L;ENSP00000380385:S115L	ENSP00000313084:S749L	S	+	2	0	EGFLAM	38471075	1.000000	0.71417	0.908000	0.35775	0.057000	0.15508	7.173000	0.77612	2.738000	0.93877	0.655000	0.94253	TCG		0.463	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
LIFR	3977	broad.mit.edu	37	5	38481860	38481860	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:38481860G>T	ENST00000263409.4	-	20	3293	c.3131C>A	c.(3130-3132)tCt>tAt	p.S1044Y	LIFR_ENST00000453190.2_Missense_Mutation_p.S1044Y	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1044					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.S1044Y(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGATCTAGGAGAGTCTGGAGA	0.413			T	PLAG1	salivary adenoma																																p.S1044Y	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3131A	5						.						145.0	136.0	139.0					5																	38481860		2203	4300	6503	38517617	SO:0001583	missense	3977	exon20			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3131C>A	5.37:g.38481860G>T	ENSP00000263409:p.Ser1044Tyr		38517617	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331094	0.81690	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59224	0.28;0.28	5.94	5.94	0.96194	.	0.201971	0.45606	D	0.000343	T	0.75295	0.3830	L	0.57536	1.79	0.52501	D	0.999952	D	0.89917	1.0	D	0.85130	0.997	T	0.75439	-0.3317	10	0.87932	D	0	-13.4226	20.3552	0.98837	0.0:0.0:1.0:0.0	.	1044	P42702	LIFR_HUMAN	Y	1044	ENSP00000263409:S1044Y;ENSP00000398368:S1044Y	ENSP00000263409:S1044Y	S	-	2	0	LIFR	38517617	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	6.473000	0.73572	2.812000	0.96745	0.557000	0.71058	TCT		0.413	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
RICTOR	253260	broad.mit.edu	37	5	38949902	38949902	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:38949902C>A	ENST00000357387.3	-	31	4078	c.4048G>T	c.(4048-4050)Gct>Tct	p.A1350S	RICTOR_ENST00000296782.5_Missense_Mutation_p.A1350S	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.A1350S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GATGCCAAAGCTTCAGAGTGA	0.393																																					p.A1350S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4048T	5						.						177.0	168.0	171.0					5																	38949902		2203	4299	6502	38985659	SO:0001583	missense	253260	exon31				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4048G>T	5.37:g.38949902C>A	ENSP00000349959:p.Ala1350Ser		38985659	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955113	0.73902	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.51817	0.89;0.69	6.03	6.03	0.97812	.	0.091360	0.85682	D	0.000000	T	0.65729	0.2719	L	0.45581	1.43	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.64875	-0.6304	10	0.87932	D	0	-15.6829	20.5753	0.99366	0.0:1.0:0.0:0.0	.	1350;1350	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	1350	ENSP00000349959:A1350S;ENSP00000296782:A1350S	ENSP00000296782:A1350S	A	-	1	0	RICTOR	38985659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.456000	0.80751	2.868000	0.98415	0.557000	0.71058	GCT		0.393	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
RICTOR	253260	broad.mit.edu	37	5	38950726	38950726	+	Missense_Mutation	SNP	C	C	T	rs370517295		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:38950726C>T	ENST00000357387.3	-	31	3254	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1075Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.R1075Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGGTCCAGATCGGTCATAAAA	0.363																																					p.R1075Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3224A	5						.	C	GLN/ARG	0,4406		0,0,2203	120.0	126.0	124.0		3224	5.9	1.0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	RICTOR	NM_152756.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1075/1709	38950726	1,13005	2203	4300	6503	38986483	SO:0001583	missense	253260	exon31				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3224G>A	5.37:g.38950726C>T	ENSP00000349959:p.Arg1075Gln		38986483	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137825	0.37728	0.0	1.16E-4	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.46819	0.88;0.86	5.86	5.86	0.93980	.	0.116079	0.56097	D	0.000030	T	0.34366	0.0895	N	0.19112	0.55	0.38474	D	0.947547	B;B	0.20780	0.028;0.048	B;B	0.10450	0.005;0.005	T	0.22068	-1.0227	10	0.87932	D	0	-9.8145	12.9949	0.58640	0.0:0.9261:0.0:0.0739	.	1075;1075	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1075	ENSP00000349959:R1075Q;ENSP00000296782:R1075Q	ENSP00000296782:R1075Q	R	-	2	0	RICTOR	38986483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.117000	0.50407	2.937000	0.99478	0.650000	0.86243	CGA		0.363	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
RICTOR	253260	broad.mit.edu	37	5	38982005	38982005	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:38982005C>A	ENST00000357387.3	-	8	747	c.717G>T	c.(715-717)aaG>aaT	p.K239N	RICTOR_ENST00000296782.5_Missense_Mutation_p.K239N	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.K239N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACTGTCGAGTCTTTGGATGAT	0.313																																					p.K239N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G717T	5						.						120.0	125.0	124.0					5																	38982005		2203	4300	6503	39017762	SO:0001583	missense	253260	exon8				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.717G>T	5.37:g.38982005C>A	ENSP00000349959:p.Lys239Asn		39017762	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552981	0.27739	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.64438	-0.1;-0.1;-0.1	4.98	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.348627	0.34580	N	0.003856	T	0.45438	0.1342	N	0.22421	0.69	0.39725	D	0.971521	B;B;B;B	0.28636	0.131;0.085;0.011;0.218	B;B;B;B	0.25140	0.04;0.037;0.02;0.058	T	0.48514	-0.9029	10	0.87932	D	0	-8.5323	8.9629	0.35858	0.0:0.7722:0.1485:0.0793	.	239;239;239;239	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	N	239;239;223	ENSP00000349959:K239N;ENSP00000296782:K239N;ENSP00000423162:K223N	ENSP00000296782:K239N	K	-	3	2	RICTOR	39017762	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.733000	0.26087	1.083000	0.41159	0.467000	0.42956	AAG		0.313	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
DAB2	1601	broad.mit.edu	37	5	39376885	39376885	+	Silent	SNP	C	C	T	rs142209579	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:39376885C>T	ENST00000320816.6	-	12	2471	c.2004G>A	c.(2002-2004)gcG>gcA	p.A668A	DAB2_ENST00000545653.1_Silent_p.A647A|DAB2_ENST00000339788.6_Silent_p.A450A|DAB2_ENST00000509337.1_Silent_p.A647A	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	668	Required for interaction with GRB2 and CSK. {ECO:0000250}.|Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.A668A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CTCCCTTCCGCGCGGGCACAG	0.498											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0015	0.0	5008	,	,		19745	0.0		0.0	False		,,,				2504	0.0				p.A668A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2004A	5						.	C		1,4405	2.1+/-5.4	0,1,2202	52.0	53.0	53.0		2004	-10.2	0.0	5	dbSNP_134	53	0,8600		0,0,4300	no	coding-synonymous	DAB2	NM_001343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		668/771	39376885	1,13005	2203	4300	6503	39412642	SO:0001819	synonymous_variant	1601	exon12			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2004G>A	5.37:g.39376885C>T		885	39412642	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.498	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
DAB2	1601	broad.mit.edu	37	5	39383131	39383131	+	Silent	SNP	C	C	T	rs200633845		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:39383131C>T	ENST00000320816.6	-	10	1397	c.930G>A	c.(928-930)tcG>tcA	p.S310S	DAB2_ENST00000545653.1_Silent_p.S289S|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Silent_p.S289S|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	310	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.S310S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGAATCAAACGAAGAAGGTG	0.458																																					p.S310S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	5						.						123.0	128.0	126.0					5																	39383131		2203	4300	6503	39418888	SO:0001819	synonymous_variant	1601	exon10			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.930G>A	5.37:g.39383131C>T			39418888	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.458	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
DAB2	1601	broad.mit.edu	37	5	39383331	39383331	+	Missense_Mutation	SNP	C	C	T	rs374921039		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:39383331C>T	ENST00000320816.6	-	10	1197	c.730G>A	c.(730-732)Gac>Aac	p.D244N	DAB2_ENST00000545653.1_Missense_Mutation_p.D223N|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.D223N|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	244	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.D244N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGATTGGTGTCGATTTCAGAG	0.393																																					p.D244N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G730A	5						.	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	121.0	134.0	130.0		730	4.9	1.0	5		130	0,8600		0,0,4300	no	missense	DAB2	NM_001343.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	244/771	39383331	1,13005	2203	4300	6503	39419088	SO:0001583	missense	1601	exon10			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.730G>A	5.37:g.39383331C>T	ENSP00000313391:p.Asp244Asn		39419088	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070449	0.55539	2.27E-4	0.0	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.45668	1.12;0.89;0.89	5.87	4.95	0.65309	.	0.152506	0.56097	N	0.000026	T	0.42040	0.1185	M	0.61703	1.905	0.54753	D	0.999981	B;B	0.26845	0.028;0.161	B;B	0.25140	0.007;0.058	T	0.32719	-0.9896	10	0.45353	T	0.12	-4.4797	13.7862	0.63110	0.0:0.9197:0.0:0.0803	.	244;223	P98082;P98082-3	DAB2_HUMAN;.	N	244;223;223	ENSP00000313391:D244N;ENSP00000439919:D223N;ENSP00000426245:D223N	ENSP00000313391:D244N	D	-	1	0	DAB2	39419088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.694000	0.68272	1.491000	0.48482	0.655000	0.94253	GAC		0.393	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
PRKAA1	5562	broad.mit.edu	37	5	40765109	40765109	+	Missense_Mutation	SNP	G	G	T	rs116338283	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:40765109G>T	ENST00000397128.2	-	7	1061	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	PRKAA1_ENST00000354209.3_Missense_Mutation_p.F366L	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	351	AIS.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)	p.F366L(1)		breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGCCAAATAGAAATCTTTGG	0.433																																					p.F351L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1053A	5						.						94.0	93.0	93.0					5																	40765109		1946	4135	6081	40800866	SO:0001583	missense	5562	exon7				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1053C>A	5.37:g.40765109G>T	ENSP00000380317:p.Phe351Leu		40800866	NM_006251	A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818970	0.71028	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.08370	3.1;3.1	6.16	2.99	0.34606	.	0.087173	0.85682	D	0.000000	T	0.20414	0.0491	M	0.75884	2.315	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.80764	0.977;0.994	T	0.15723	-1.0427	10	0.18710	T	0.47	-13.6275	5.1907	0.15209	0.2688:0.1489:0.5823:0.0	.	351;366	Q13131;Q13131-2	AAPK1_HUMAN;.	L	351;366	ENSP00000380317:F351L;ENSP00000346148:F366L	ENSP00000346148:F366L	F	-	3	2	AC008810.1	40800866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.124000	0.42006	0.291000	0.22468	0.650000	0.86243	TTC		0.433	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	
CARD6	84674	broad.mit.edu	37	5	40852902	40852902	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:40852902G>T	ENST00000254691.5	+	3	1667	c.1468G>T	c.(1468-1470)Gat>Tat	p.D490Y	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	490					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.D490Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTTCATCAAGATTTGCCTCT	0.428																																					p.D490Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1468T	5						.						71.0	70.0	71.0					5																	40852902		2203	4300	6503	40888659	SO:0001583	missense	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1468G>T	5.37:g.40852902G>T	ENSP00000254691:p.Asp490Tyr		40888659	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068420	0.36470	.	.	ENSG00000132357	ENST00000254691	T	0.16196	2.36	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000026	T	0.40247	0.1109	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.19910	-1.0291	10	0.66056	D	0.02	-21.6541	9.6112	0.39663	0.0923:0.0:0.9077:0.0	.	490	Q9BX69	CARD6_HUMAN	Y	490	ENSP00000254691:D490Y	ENSP00000254691:D490Y	D	+	1	0	CARD6	40888659	0.981000	0.34729	0.045000	0.18777	0.065000	0.16274	3.222000	0.51223	2.709000	0.92574	0.650000	0.86243	GAT		0.428	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
C7	730	broad.mit.edu	37	5	40962230	40962230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:40962230G>T	ENST00000313164.9	+	13	2064	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	569	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E569*(1)					Ovarian(839;0.0112)				GGTTCCAACAGAATTCTGTCC	0.333																																					p.E569X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1705T	5						.						109.0	100.0	103.0					5																	40962230		1851	4090	5941	40997987	SO:0001587	stop_gained	730	exon13			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1705G>T	5.37:g.40962230G>T	ENSP00000322061:p.Glu569*		40997987	NM_000587	Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	39	7.576668	0.98368	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	.	.	.	5.96	1.09	0.20402	.	0.509194	0.22132	N	0.064177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.3065	10.0788	0.42377	0.2275:0.0932:0.6793:0.0	.	.	.	.	X	569;409	.	ENSP00000322061:E569X	E	+	1	0	C7	40997987	1.000000	0.71417	0.223000	0.23860	0.696000	0.40369	1.809000	0.38922	-0.060000	0.13132	-2.151000	0.00333	GAA		0.333	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
C7	730	broad.mit.edu	37	5	40981528	40981528	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:40981528G>A	ENST00000313164.9	+	18	2744	c.2385G>A	c.(2383-2385)tcG>tcA	p.S795S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	795	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.S795S(1)					Ovarian(839;0.0112)				GAGAAGCATCGGAGTGCGAGG	0.522																																					p.S795S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2385A	5						.						62.0	63.0	63.0					5																	40981528		2104	4213	6317	41017285	SO:0001819	synonymous_variant	730	exon18			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2385G>A	5.37:g.40981528G>A			41017285	NM_000587	Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	CCDS47201.1																																																																																				0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
MROH2B	133558	broad.mit.edu	37	5	41012804	41012804	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:41012804G>T	ENST00000399564.4	-	30	3466	c.3016C>A	c.(3016-3018)Ctg>Atg	p.L1006M	MROH2B_ENST00000506092.2_Missense_Mutation_p.L561M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1006								p.L1006M(1)									AGGAACATCAGAATTTCTTCA	0.438																																					p.L1006M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3016A	5						.						122.0	118.0	119.0					5																	41012804		1893	4130	6023	41048561	SO:0001583	missense	133558	exon30				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3016C>A	5.37:g.41012804G>T	ENSP00000382476:p.Leu1006Met		41048561	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.698	0.497436	0.12762	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06294	3.32;3.32	6.04	3.15	0.36227	Armadillo-like helical (1);Armadillo-type fold (1);	1.067900	0.07296	N	0.873351	T	0.05456	0.0144	N	0.25647	0.755	0.09310	N	1	P	0.41569	0.755	B	0.35470	0.203	T	0.43605	-0.9381	10	0.45353	T	0.12	.	8.8902	0.35429	0.0:0.1462:0.5511:0.3028	.	1006	Q7Z745	HTRB2_HUMAN	M	561;711;1006	ENSP00000441504:L561M;ENSP00000382476:L1006M	ENSP00000296803:L711M	L	-	1	2	HEATR7B2	41048561	0.001000	0.12720	0.006000	0.13384	0.106000	0.19336	1.005000	0.29834	0.364000	0.24374	0.561000	0.74099	CTG		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
C6	729	broad.mit.edu	37	5	41142979	41142979	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:41142979C>A	ENST00000263413.3	-	18	3017	c.2753G>T	c.(2752-2754)aGa>aTa	p.R918I	C6_ENST00000337836.5_Missense_Mutation_p.R918I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	918	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R918I(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTTTGCACATCTTATAGTTCC	0.443																																					p.R918I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2753T	5						.						242.0	200.0	214.0					5																	41142979		2203	4300	6503	41178736	SO:0001583	missense	729	exon18			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2753G>T	5.37:g.41142979C>A	ENSP00000263413:p.Arg918Ile		41178736	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	7.800	0.713448	0.15306	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63744	-0.06;-0.06	5.71	-1.74	0.08056	Factor I / membrane attack complex (1);	0.445957	0.26556	N	0.023709	T	0.54013	0.1832	L	0.61387	1.9	0.19945	N	0.999945	B	0.20550	0.046	B	0.15870	0.014	T	0.49753	-0.8906	10	0.45353	T	0.12	-6.2965	12.1572	0.54083	0.0:0.2074:0.0:0.7926	.	918	P13671	CO6_HUMAN	I	918	ENSP00000338861:R918I;ENSP00000263413:R918I	ENSP00000263413:R918I	R	-	2	0	C6	41178736	0.053000	0.20554	0.005000	0.12908	0.178000	0.23041	-0.006000	0.12833	-0.434000	0.07275	-0.142000	0.14014	AGA		0.443	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
C6	729	broad.mit.edu	37	5	41159242	41159242	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:41159242G>A	ENST00000263413.3	-	12	2062	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	C6_ENST00000337836.5_Missense_Mutation_p.R600C|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	600	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R600C(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCACAGCGTTTCCCTCCT	0.488																																					p.R600C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1798T	5						.						127.0	135.0	132.0					5																	41159242		2203	4300	6503	41194999	SO:0001583	missense	729	exon12			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1798C>T	5.37:g.41159242G>A	ENSP00000263413:p.Arg600Cys		41194999	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250039	0.39797	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.18016	2.24;2.24	5.64	-2.05	0.07321	.	0.382697	0.32578	N	0.005905	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	0.999995	P	0.47962	0.903	P	0.51833	0.681	T	0.11641	-1.0579	10	0.59425	D	0.04	0.1074	4.1569	0.10265	0.1118:0.2862:0.4055:0.1965	.	600	P13671	CO6_HUMAN	C	600	ENSP00000338861:R600C;ENSP00000263413:R600C	ENSP00000263413:R600C	R	-	1	0	C6	41194999	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	0.684000	0.25364	-0.301000	0.08882	0.650000	0.86243	CGC		0.488	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
OXCT1	5019	broad.mit.edu	37	5	41850252	41850252	+	Silent	SNP	G	G	A	rs372032720	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:41850252G>A	ENST00000196371.5	-	5	604	c.444C>T	c.(442-444)ggC>ggT	p.G148G		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	148					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.G148G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CTCCAGCCCCGCCTGCACGGA	0.507													g|||	2	0.000399361	0.0015	0.0	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.0				p.G148G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	5						.	A		2,4404	4.2+/-10.8	0,2,2201	87.0	76.0	80.0		444	-10.2	0.5	5		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OXCT1	NM_000436.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		148/521	41850252	3,13003	2203	4300	6503	41886009	SO:0001819	synonymous_variant	5019	exon5			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.444C>T	5.37:g.41850252G>A			41886009	NM_000436	B2R5V2|B7Z528	Silent	SNP	ENST00000196371.5	37	CCDS3937.1																																																																																				0.507	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	
FBXO4	26272	broad.mit.edu	37	5	41927208	41927208	+	Missense_Mutation	SNP	G	G	T	rs374881418		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:41927208G>T	ENST00000281623.3	+	2	339	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	FBXO4_ENST00000296812.2_Missense_Mutation_p.D95Y|FBXO4_ENST00000509134.1_Missense_Mutation_p.D95Y	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	95	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.			D -> N (in Ref. 1; AAF04468). {ECO:0000305}.	positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.D95Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AACTGTAAGAGATCCAATTCT	0.363																																					p.D95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283T	5						.						181.0	179.0	180.0					5																	41927208		2203	4300	6503	41962965	SO:0001583	missense	26272	exon2			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.283G>T	5.37:g.41927208G>T	ENSP00000281623:p.Asp95Tyr		41962965	NM_012176	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792445	0.90453	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.61980	0.06;0.06;0.06	5.62	5.62	0.85841	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.81545	0.4845	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83361	0.0002	10	0.87932	D	0	-23.3665	19.6604	0.95864	0.0:0.0:1.0:0.0	.	95;95;95	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	Y	95	ENSP00000296812:D95Y;ENSP00000281623:D95Y;ENSP00000421749:D95Y	ENSP00000281623:D95Y	D	+	1	0	FBXO4	41962965	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.114000	0.94329	2.648000	0.89879	0.655000	0.94253	GAT		0.363	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1		
SEPP1	6414	broad.mit.edu	37	5	42807160	42807160	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:42807160G>T	ENST00000514985.1	-	3	510	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000511224.1_Missense_Mutation_p.S85Y|SEPP1_ENST00000506577.1_Missense_Mutation_p.S85Y|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000509276.1_Intron	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	85					brain development (GO:0007420)|growth (GO:0040007)|locomotory behavior (GO:0007626)|post-embryonic development (GO:0009791)|response to oxidative stress (GO:0006979)|selenium compound metabolic process (GO:0001887)|sexual reproduction (GO:0019953)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)	p.S85Y(1)		kidney(10)|large_intestine(1)|lung(4)	15						AACAATATAAGAAATATTAGA	0.279																																					p.S85Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C254A	5						.						73.0	73.0	73.0					5																	42807160		1788	4055	5843	42842917	SO:0001583	missense	6414	exon4			BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722			10751	protein-coding gene	gene with protein product		601484				8421687	Standard	NM_001085486		Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.254C>A	5.37:g.42807160G>T	ENSP00000420939:p.Ser85Tyr		42842917	NM_001085486	Q6PD59|Q6PI43|Q6PI87|Q6PJF9	Missense_Mutation	SNP	ENST00000514985.1	37	CCDS43311.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722612	0.68959	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.49	5.49	0.81192	.	0.000000	0.43919	U	0.000511	T	0.56140	0.1965	M	0.63428	1.95	0.80722	D	1	.	.	.	.	.	.	T	0.56768	-0.7924	8	0.66056	D	0.02	.	19.3746	0.94503	0.0:0.0:1.0:0.0	.	.	.	.	Y	85	ENSP00000420939:S85Y;ENSP00000427671:S85Y;ENSP00000425915:S85Y;ENSP00000421626:S85Y;ENSP00000427414:S85Y	ENSP00000425915:S85Y	S	-	2	0	SEPP1	42842917	1.000000	0.71417	0.793000	0.32043	0.645000	0.38454	6.247000	0.72411	2.582000	0.87167	0.650000	0.86243	TCT		0.279	SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000367483.1	NM_005410	
NIM1K	167359	broad.mit.edu	37	5	43277227	43277227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43277227G>T	ENST00000512796.1	+	3	1860	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.E121*			Q8IY84	NIM1_HUMAN		121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E121*(1)									ACTATCCCGAGAAATCTCCAG	0.473																																					p.E121X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G361T	5						.						99.0	100.0	100.0					5																	43277227		2203	4300	6503	43312984	SO:0001587	stop_gained	167359	exon3																														ENST00000512796.1:c.361G>T	5.37:g.43277227G>T	ENSP00000420849:p.Glu121*		43312984	NM_153361	B3KVM1	Nonsense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	G	49	15.554882	0.99837	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6629	0.95879	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000313572:E121X	E	+	1	0	AC114947.1	43312984	1.000000	0.71417	0.925000	0.36789	0.940000	0.58332	9.869000	0.99810	2.654000	0.90174	0.555000	0.69702	GAA		0.473	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
C5orf28	64417	broad.mit.edu	37	5	43454051	43454051	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43454051C>A	ENST00000500337.2	-	4	352	c.21G>T	c.(19-21)aaG>aaT	p.K7N	C5orf28_ENST00000512085.1_Missense_Mutation_p.K7N|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000397080.3_Missense_Mutation_p.K7N			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	7						integral component of membrane (GO:0016021)		p.K7N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAGCATGGGTCTTTTCAGTCT	0.423																																					p.K7N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G21T	5						.						84.0	77.0	80.0					5																	43454051		2203	4300	6503	43489808	SO:0001583	missense	64417	exon2			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.21G>T	5.37:g.43454051C>A	ENSP00000426067:p.Lys7Asn		43489808	NM_022483	B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371499	0.61624	.	.	ENSG00000151881	ENST00000500337;ENST00000397080;ENST00000512085;ENST00000506860	.	.	.	5.4	3.61	0.41365	.	0.041772	0.85682	D	0.000000	T	0.74007	0.3660	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.59357	0.856	T	0.76260	-0.3024	9	0.66056	D	0.02	-10.4898	12.4611	0.55733	0.0:0.8622:0.0:0.1378	.	7	Q0VDI3	CE028_HUMAN	N	7	.	ENSP00000380270:K7N	K	-	3	2	C5orf28	43489808	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.592000	0.46171	0.763000	0.33175	-0.291000	0.09656	AAG		0.423	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483	
C5orf34	375444	broad.mit.edu	37	5	43505892	43505892	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43505892G>T	ENST00000306862.2	-	4	1265	c.890C>A	c.(889-891)cCc>cAc	p.P297H	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	297								p.P297H(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					CAGGGCCCTGGGAAGAACAGA	0.403																																					p.P297H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890A	5						.						92.0	91.0	91.0					5																	43505892		2203	4300	6503	43541649	SO:0001583	missense	375444	exon4			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.890C>A	5.37:g.43505892G>T	ENSP00000303490:p.Pro297His		43541649	NM_198566		Missense_Mutation	SNP	ENST00000306862.2	37	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231073	0.58777	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.81247	-1.47	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89636	0.6772	M	0.78637	2.42	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.91041	0.4871	10	0.87932	D	0	-5.9826	16.5572	0.84488	0.0:0.0:1.0:0.0	.	297	Q96MH7	CE034_HUMAN	H	297;183	ENSP00000303490:P297H	ENSP00000303490:P297H	P	-	2	0	C5orf34	43541649	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.152000	0.64882	2.351000	0.79841	0.591000	0.81541	CCC		0.403	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566	
PAIP1	10605	broad.mit.edu	37	5	43529971	43529971	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43529971C>A	ENST00000306846.3	-	10	1495	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	PAIP1_ENST00000436644.2_Missense_Mutation_p.E342D|PAIP1_ENST00000338972.4_Missense_Mutation_p.E309D|PAIP1_ENST00000514514.1_Intron	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	421					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.E421D(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTGGTATTTCTCTTGGTAAT	0.323																																					p.E309D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	5						.						57.0	61.0	60.0					5																	43529971		2203	4300	6503	43565728	SO:0001583	missense	10605	exon10			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1263G>T	5.37:g.43529971C>A	ENSP00000302768:p.Glu421Asp		43565728	NM_183323	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.529057	0.27387	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514816;ENST00000338972	T;T;T	0.35789	1.29;1.35;1.38	4.93	2.12	0.27331	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.50333	1.59	0.80722	D	1	B;B	0.32467	0.372;0.193	B;B	0.27796	0.064;0.083	T	0.07214	-1.0784	10	0.37606	T	0.19	-10.1287	9.6122	0.39670	0.0:0.6427:0.0:0.3573	.	421;342	Q9H074;Q9H074-2	PAIP1_HUMAN;.	D	421;342;22;309	ENSP00000302768:E421D;ENSP00000387729:E342D;ENSP00000339622:E309D	ENSP00000302768:E421D	E	-	3	2	PAIP1	43565728	0.997000	0.39634	1.000000	0.80357	0.923000	0.55619	0.379000	0.20585	0.756000	0.33013	0.484000	0.47621	GAG		0.323	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
PAIP1	10605	broad.mit.edu	37	5	43543182	43543182	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43543182G>A	ENST00000306846.3	-	4	890	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	PAIP1_ENST00000436644.2_Missense_Mutation_p.R141C|PAIP1_ENST00000338972.4_Missense_Mutation_p.R108C|PAIP1_ENST00000514514.1_Missense_Mutation_p.R141C	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	220	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.R220S(1)|p.R220C(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TTACACAGGCGAGCTCCCATA	0.363																																					p.R108C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C322T	5						.						74.0	77.0	76.0					5																	43543182		2203	4300	6503	43578939	SO:0001583	missense	10605	exon4			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.658C>T	5.37:g.43543182G>A	ENSP00000302768:p.Arg220Cys		43578939	NM_183323	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971728	0.74246	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000504075	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.34	5.34	0.76211	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.78637	2.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.56456	-0.7976	10	0.87932	D	0	-6.2871	14.5863	0.68328	0.0:0.0:0.7863:0.2137	.	141;220;141	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	C	220;141;108;141;108;108;4	ENSP00000302768:R220C;ENSP00000387729:R141C;ENSP00000339622:R108C;ENSP00000425084:R141C;ENSP00000425675:R108C;ENSP00000425736:R108C	ENSP00000302768:R220C	R	-	1	0	PAIP1	43578939	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.280000	0.51677	2.494000	0.84150	0.585000	0.79938	CGC		0.363	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
PAIP1	10605	broad.mit.edu	37	5	43555938	43555938	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43555938A>C	ENST00000306846.3	-	2	661	c.429T>G	c.(427-429)agT>agG	p.S143R	PAIP1_ENST00000436644.2_Missense_Mutation_p.S64R|PAIP1_ENST00000338972.4_Missense_Mutation_p.S31R|PAIP1_ENST00000514514.1_Missense_Mutation_p.S64R	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	143	PABPC1-interacting motif-2 (PAM2).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S143R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TTACTGTGTAACTGGAAGAAT	0.403																																					p.S31R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T93G	5						.						116.0	126.0	123.0					5																	43555938		2203	4300	6503	43591695	SO:0001583	missense	10605	exon2			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.429T>G	5.37:g.43555938A>C	ENSP00000302768:p.Ser143Arg		43591695	NM_183323	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	5.494	0.276214	0.10403	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.32753	1.46;1.44;1.53;1.44;1.52;1.56	4.9	3.73	0.42828	.	0.562024	0.18237	N	0.147378	T	0.12518	0.0304	N	0.08118	0	0.19775	N	0.999954	B;B;B	0.16166	0.009;0.016;0.016	B;B;B	0.13407	0.007;0.005;0.009	T	0.26710	-1.0095	10	0.16420	T	0.52	-4.9207	3.9735	0.09464	0.6644:0.0:0.18:0.1555	.	64;143;64	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	R	143;64;31;64;31;31;31	ENSP00000302768:S143R;ENSP00000387729:S64R;ENSP00000339622:S31R;ENSP00000425084:S64R;ENSP00000425675:S31R;ENSP00000425736:S31R	ENSP00000302768:S143R	S	-	3	2	PAIP1	43591695	0.997000	0.39634	1.000000	0.80357	0.572000	0.35998	0.463000	0.21972	0.728000	0.32382	0.459000	0.35465	AGT		0.403	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451	
NNT	23530	broad.mit.edu	37	5	43613098	43613098	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43613098G>T	ENST00000264663.5	+	3	461	c.240G>T	c.(238-240)caG>caT	p.Q80H	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Missense_Mutation_p.Q80H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	80					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.Q80H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTGGTGTTCAGAACTTGGTCA	0.473																																					p.Q80H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	5						.						171.0	172.0	172.0					5																	43613098		2203	4300	6503	43648855	SO:0001583	missense	23530	exon3			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.240G>T	5.37:g.43613098G>T	ENSP00000264663:p.Gln80His		43648855	NM_182977	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953477	0.73902	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.7	2.96	0.34315	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-1 (1);Alanine dehydrogenase/PNT, N-terminal (1);	0.052113	0.85682	D	0.000000	T	0.76933	0.4057	L	0.39397	1.21	0.80722	D	1	P	0.45240	0.854	P	0.54924	0.764	T	0.75698	-0.3227	10	0.66056	D	0.02	-9.9121	7.7163	0.28706	0.3584:0.0:0.6416:0.0	.	80	Q13423	NNTM_HUMAN	H	80	ENSP00000427670:Q80H;ENSP00000421886:Q80H;ENSP00000264663:Q80H;ENSP00000343873:Q80H	ENSP00000264663:Q80H	Q	+	3	2	NNT	43648855	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	3.297000	0.51810	0.776000	0.33473	0.650000	0.86243	CAG		0.473	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
NNT	23530	broad.mit.edu	37	5	43644750	43644750	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:43644750G>A	ENST00000264663.5	+	9	1357	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NNT_ENST00000512996.2_Missense_Mutation_p.R248Q|NNT_ENST00000344920.4_Missense_Mutation_p.R379Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	379					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.R379Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CTGCCCAGCCGAATGGCCACT	0.413																																					p.R379Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1136A	5						.						70.0	69.0	69.0					5																	43644750		2203	4300	6503	43680507	SO:0001583	missense	23530	exon9			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1136G>A	5.37:g.43644750G>A	ENSP00000264663:p.Arg379Gln		43680507	NM_182977	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742617	0.89573	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96011	-3.88;-3.88;-3.76	5.55	5.55	0.83447	.	0.204155	0.46145	D	0.000303	D	0.95033	0.8392	M	0.86953	2.85	0.58432	D	0.999998	P	0.47034	0.889	B	0.32724	0.151	D	0.95775	0.8812	10	0.62326	D	0.03	-1.3292	19.4893	0.95044	0.0:0.0:1.0:0.0	.	379	Q13423	NNTM_HUMAN	Q	379;379;248	ENSP00000264663:R379Q;ENSP00000343873:R379Q;ENSP00000426343:R248Q	ENSP00000264663:R379Q	R	+	2	0	NNT	43680507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.399000	0.97285	2.619000	0.88677	0.655000	0.94253	CGA		0.413	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
MRPS30	10884	broad.mit.edu	37	5	44812047	44812047	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:44812047G>A	ENST00000507110.1	+	3	816	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	260					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.E260K(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTCCTATAGAAATCCCCAC	0.308																																					p.E260K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778A	5						.						79.0	81.0	81.0					5																	44812047		2203	4300	6503	44847804	SO:0001583	missense	10884	exon3			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.778G>A	5.37:g.44812047G>A	ENSP00000424328:p.Glu260Lys		44847804	NM_016640	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398352	0.83120	.	.	ENSG00000112996	ENST00000507110	T	0.17213	2.29	5.66	4.8	0.61643	.	0.189539	0.56097	D	0.000026	T	0.36744	0.0978	M	0.80183	2.485	0.53005	D	0.999962	D	0.56968	0.978	P	0.60236	0.871	T	0.14615	-1.0466	10	0.33940	T	0.23	-0.3208	10.3204	0.43762	0.072:0.1336:0.7944:0.0	.	260	Q9NP92	RT30_HUMAN	K	260	ENSP00000424328:E260K	ENSP00000424328:E260K	E	+	1	0	MRPS30	44847804	1.000000	0.71417	0.976000	0.42696	0.820000	0.46376	4.817000	0.62650	1.397000	0.46682	-0.126000	0.14955	GAA		0.308	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640	
HCN1	348980	broad.mit.edu	37	5	45267197	45267197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:45267197G>A	ENST00000303230.4	-	7	1834	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	593					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R593*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTACCTATTCGATCTAGTCGG	0.413																																					p.R593X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1777T	5						.						136.0	128.0	130.0					5																	45267197		2203	4300	6503	45302954	SO:0001587	stop_gained	348980	exon7			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1777C>T	5.37:g.45267197G>A	ENSP00000307342:p.Arg593*		45302954	NM_021072		Nonsense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	38	7.066168	0.98040	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.91	4.07	0.47477	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0462	0.64706	0.0:0.0:0.4388:0.5612	.	.	.	.	X	593	.	ENSP00000307342:R593X	R	-	1	2	HCN1	45302954	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.270000	0.51600	0.785000	0.33685	0.655000	0.94253	CGA		0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45396619	45396619	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:45396619G>T	ENST00000303230.4	-	4	1262	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	402					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S402Y(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGCCTCGAAGAATCCAGAGA	0.448																																					p.S402Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1205A	5						.						53.0	51.0	52.0					5																	45396619		2203	4300	6503	45432376	SO:0001583	missense	348980	exon4			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1205C>A	5.37:g.45396619G>T	ENSP00000307342:p.Ser402Tyr		45432376	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923074	0.73213	.	.	ENSG00000164588	ENST00000303230	D	0.97114	-4.25	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);	0.191792	0.36066	N	0.002804	D	0.96200	0.8761	M	0.78223	2.4	0.80722	D	1	P	0.41159	0.74	B	0.33690	0.168	D	0.96806	0.9593	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	402	O60741	HCN1_HUMAN	Y	402	ENSP00000307342:S402Y	ENSP00000307342:S402Y	S	-	2	0	HCN1	45432376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.820000	0.97059	0.650000	0.86243	TCT		0.448	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	broad.mit.edu	37	5	45645649	45645649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:45645649C>A	ENST00000303230.4	-	2	544	c.487G>T	c.(487-489)Gga>Tga	p.G163*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	163					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.G163*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AATGTGATTCCAACTGGTATG	0.313																																					p.G163X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G487T	5						.						70.0	71.0	71.0					5																	45645649		2203	4298	6501	45681406	SO:0001587	stop_gained	348980	exon2			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.487G>T	5.37:g.45645649C>A	ENSP00000307342:p.Gly163*		45681406	NM_021072		Nonsense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	37	6.077723	0.97262	.	.	ENSG00000164588	ENST00000303230	.	.	.	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000307342:G163X	G	-	1	0	HCN1	45681406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.312000	0.78011	0.555000	0.69702	GGA		0.313	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
PELO	53918	broad.mit.edu	37	5	52096498	52096498	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52096498G>T	ENST00000274311.2	+	2	1255	c.270G>T	c.(268-270)gaG>gaT	p.E90D	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	90					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.E90D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ACATCCAAGAGAATGAGTATG	0.587																																					p.E90D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	5						.						72.0	69.0	70.0					5																	52096498		2203	4300	6503	52132255	SO:0001583	missense	53918	exon2				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.270G>T	5.37:g.52096498G>T	ENSP00000274311:p.Glu90Asp		52132255	NM_015946	Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483979	0.84854	.	.	ENSG00000152684	ENST00000274311	T	0.52057	0.68	5.66	3.89	0.44902	eRF1 domain 1/Pelota-like (1);	0.000000	0.85682	U	0.000000	T	0.66733	0.2819	M	0.89287	3.02	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	T	0.68161	-0.5482	10	0.31617	T	0.26	-19.7339	12.2071	0.54358	0.1394:0.0:0.8606:0.0	.	90	Q9BRX2	PELO_HUMAN	D	90	ENSP00000274311:E90D	ENSP00000274311:E90D	E	+	3	2	PELO	52132255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.022000	0.64078	0.747000	0.32809	0.563000	0.77884	GAG		0.587	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946	
ITGA1	3672	broad.mit.edu	37	5	52211305	52211305	+	Silent	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52211305A>C	ENST00000282588.6	+	15	2327	c.1869A>C	c.(1867-1869)tcA>tcC	p.S623S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	623					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.S623S(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTATTCCATCAGGTGGGGATG	0.378																																					p.S623S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.A1869C	5						.						139.0	141.0	141.0					5																	52211305		2203	4300	6503	52247062	SO:0001819	synonymous_variant	3672	exon15			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1869A>C	5.37:g.52211305A>C			52247062	NM_181501	B2RNU0	Silent	SNP	ENST00000282588.6	37	CCDS3955.1																																																																																				0.378	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
ITGA1	3672	broad.mit.edu	37	5	52235744	52235744	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52235744G>A	ENST00000282588.6	+	26	3713	c.3255G>A	c.(3253-3255)tcG>tcA	p.S1085S	CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1085					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.S1085S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCAATGTTTCGCTTATCTTGT	0.299																																					p.S1085S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3255A	5						.						110.0	93.0	98.0					5																	52235744		2202	4299	6501	52271501	SO:0001819	synonymous_variant	3672	exon26			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3255G>A	5.37:g.52235744G>A			52271501	NM_181501	B2RNU0	Silent	SNP	ENST00000282588.6	37	CCDS3955.1																																																																																				0.299	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501	
ITGA2	3673	broad.mit.edu	37	5	52366010	52366010	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52366010G>T	ENST00000296585.5	+	17	2298	c.2155G>T	c.(2155-2157)Gaa>Taa	p.E719*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	719					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.E719*(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTATTTAAAGAAAACAATGA	0.378																																					p.E719X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2155T	5						.						59.0	61.0	60.0					5																	52366010		2202	4300	6502	52401767	SO:0001587	stop_gained	3673	exon17				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2155G>T	5.37:g.52366010G>T	ENSP00000296585:p.Glu719*		52401767	NM_002203	Q14595	Nonsense_Mutation	SNP	ENST00000296585.5	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296441	0.95574	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.86	5.86	0.93980	.	0.053180	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	.	.	.	X	719	.	ENSP00000296585:E719X	E	+	1	0	ITGA2	52401767	1.000000	0.71417	0.990000	0.47175	0.154000	0.21943	5.056000	0.64287	2.777000	0.95525	0.655000	0.94253	GAA		0.378	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
FST	10468	broad.mit.edu	37	5	52779502	52779502	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52779502G>T	ENST00000256759.3	+	3	829	c.446G>T	c.(445-447)aGa>aTa	p.R149I	FST_ENST00000396947.3_Missense_Mutation_p.R149I	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	149	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.R149I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTAAAGGCAAGATGTAAAGAG	0.532																																					p.R149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446T	5						.						68.0	64.0	65.0					5																	52779502		2203	4300	6503	52815259	SO:0001583	missense	10468	exon3			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.446G>T	5.37:g.52779502G>T	ENSP00000256759:p.Arg149Ile		52815259	NM_013409	B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962751	0.74016	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.04862	3.54;3.54;3.54	5.76	4.9	0.64082	Proteinase inhibitor I1, Kazal (2);	0.086103	0.85682	D	0.000000	T	0.08670	0.0215	L	0.43598	1.365	0.80722	D	1	P	0.45957	0.869	P	0.44597	0.454	T	0.10064	-1.0646	10	0.52906	T	0.07	-15.796	11.0007	0.47604	0.1423:0.0:0.8577:0.0	.	149	P19883	FST_HUMAN	I	149;149;149;21	ENSP00000256759:R149I;ENSP00000380151:R149I;ENSP00000426315:R21I	ENSP00000256759:R149I	R	+	2	0	FST	52815259	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	4.606000	0.61126	1.444000	0.47605	0.491000	0.48974	AGA		0.532	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409	
NDUFS4	4724	broad.mit.edu	37	5	52979017	52979017	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:52979017C>A	ENST00000296684.5	+	5	522	c.494C>A	c.(493-495)tCt>tAt	p.S165Y		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	165					brain development (GO:0007420)|cAMP-mediated signaling (GO:0019933)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|positive regulation of fibroblast proliferation (GO:0048146)|reactive oxygen species metabolic process (GO:0072593)|regulation of protein phosphorylation (GO:0001932)|respiratory electron transport chain (GO:0022904)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.S165Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)				GCAAACTTTTCTTGGAACAAA	0.398																																					p.S165Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494A	5						.						115.0	119.0	118.0					5																	52979017		2203	4300	6503	53014774	SO:0001583	missense	4724	exon5			AF020351	CCDS3960.1	5q11.1	2011-07-04	2002-08-29		ENSG00000164258	ENSG00000164258		"""Mitochondrial respiratory chain complex / Complex I"""	7711	protein-coding gene	gene with protein product	"""complex I 18kDa subunit"""	602694	"""NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)"""			9463323, 9763677	Standard	NM_002495		Approved	AQDQ, CI-18	uc003jpe.2	O43181	OTTHUMG00000096987	ENST00000296684.5:c.494C>A	5.37:g.52979017C>A	ENSP00000296684:p.Ser165Tyr		53014774	NM_002495	Q9BS69	Missense_Mutation	SNP	ENST00000296684.5	37	CCDS3960.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595344	0.86953	.	.	ENSG00000164258	ENST00000296684	T	0.78816	-1.21	5.96	5.96	0.96718	.	0.159550	0.64402	D	0.000018	D	0.85737	0.5766	M	0.76574	2.34	0.80722	D	1	D	0.54047	0.964	P	0.55055	0.767	D	0.83511	0.0080	10	0.36615	T	0.2	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	165	O43181	NDUS4_HUMAN	Y	165	ENSP00000296684:S165Y	ENSP00000296684:S165Y	S	+	2	0	NDUFS4	53014774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.746000	0.74866	2.826000	0.97356	0.655000	0.94253	TCT		0.398	NDUFS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214062.2	NM_002495	
HSPB3	8988	broad.mit.edu	37	5	53751890	53751890	+	Nonsense_Mutation	SNP	G	G	T	rs147724326	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:53751890G>T	ENST00000302005.1	+	1	446	c.271G>T	c.(271-273)Gaa>Taa	p.E91*		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	91					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E91*(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCAGACCTTCGAAGGCTGGCT	0.517																																					p.E91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G271T	5						.						111.0	103.0	106.0					5																	53751890		2203	4300	6503	53787647	SO:0001587	stop_gained	8988	exon1			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.271G>T	5.37:g.53751890G>T	ENSP00000303394:p.Glu91*		53787647	NM_006308		Nonsense_Mutation	SNP	ENST00000302005.1	37	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588102	0.97684	.	.	ENSG00000169271	ENST00000302005	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.2203	19.7612	0.96319	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000303394:E91X	E	+	1	0	HSPB3	53787647	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	7.692000	0.84203	2.646000	0.89796	0.655000	0.94253	GAA		0.517	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2		
GZMA	3001	broad.mit.edu	37	5	54403644	54403644	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54403644C>A	ENST00000274306.6	+	3	273	c.238C>A	c.(238-240)Ctt>Att	p.L80I		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	80	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.L80I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCAGGTCATTCTTGGGGCTCA	0.413																																					p.L80I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C238A	5						.						116.0	111.0	112.0					5																	54403644		2203	4300	6503	54439401	SO:0001583	missense	3001	exon3				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.238C>A	5.37:g.54403644C>A	ENSP00000274306:p.Leu80Ile		54439401	NM_006144	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971327	0.53614	.	.	ENSG00000145649	ENST00000274306	D	0.90261	-2.64	6.03	6.03	0.97812	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.93661	0.7975	L	0.52823	1.66	0.43007	D	0.994531	D	0.67145	0.996	D	0.70227	0.968	D	0.93764	0.7069	10	0.72032	D	0.01	.	14.9453	0.71026	0.143:0.857:0.0:0.0	.	80	P12544	GRAA_HUMAN	I	80	ENSP00000274306:L80I	ENSP00000274306:L80I	L	+	1	0	GZMA	54439401	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	2.927000	0.48900	2.854000	0.98071	0.655000	0.94253	CTT		0.413	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144	
GPX8	493869	broad.mit.edu	37	5	54456874	54456874	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54456874A>G	ENST00000503787.1	+	2	332	c.257A>G	c.(256-258)tAc>tGc	p.Y86C	CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.Y35C|GPX8_ENST00000506123.1_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	86					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)	p.Y86C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	GACAGAAATTACTTAGGGCTG	0.473																																					p.Y86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A257G	5						.						70.0	67.0	68.0					5																	54456874		2203	4300	6503	54492631	SO:0001583	missense	493869	exon2			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.257A>G	5.37:g.54456874A>G	ENSP00000423822:p.Tyr86Cys		54492631	NM_001008397		Missense_Mutation	SNP	ENST00000503787.1	37	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080672	0.76528	.	.	ENSG00000164294	ENST00000503787;ENST00000515370	T;T	0.16897	2.31;2.31	5.53	5.53	0.82687	Thioredoxin-like fold (2);	0.055773	0.85682	D	0.000000	T	0.62429	0.2427	H	0.99357	4.53	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.80056	-0.1542	10	0.87932	D	0	.	15.6603	0.77182	1.0:0.0:0.0:0.0	.	35;86	E7ETY7;Q8TED1	.;GPX8_HUMAN	C	86;35	ENSP00000423822:Y86C;ENSP00000427466:Y35C	ENSP00000423822:Y86C	Y	+	2	0	GPX8	54492631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.049000	0.76613	2.092000	0.63282	0.533000	0.62120	TAC		0.473	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397	
DHX29	54505	broad.mit.edu	37	5	54558599	54558599	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54558599C>T	ENST00000251636.5	-	24	3835	c.3687G>A	c.(3685-3687)ggG>ggA	p.G1229G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1229						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.G1229G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGATTATCTTCCCCACATTGT	0.463																																					p.G1229G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3687A	5						.						194.0	184.0	187.0					5																	54558599		2203	4300	6503	54594356	SO:0001819	synonymous_variant	54505	exon24			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3687G>A	5.37:g.54558599C>T			54594356	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	CCDS34158.1																																																																																				0.463	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
DHX29	54505	broad.mit.edu	37	5	54570457	54570457	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54570457C>A	ENST00000251636.5	-	16	2823	c.2675G>T	c.(2674-2676)aGa>aTa	p.R892I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	892	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.R892I(1)|p.R892K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAATAAAATCTTCTATCATT	0.313																																					p.R892I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2675T	5						.						29.0	29.0	29.0					5																	54570457		2200	4284	6484	54606214	SO:0001583	missense	54505	exon16			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2675G>T	5.37:g.54570457C>A	ENSP00000251636:p.Arg892Ile		54606214	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543261	0.86022	.	.	ENSG00000067248	ENST00000251636	T	0.02656	4.21	4.99	4.99	0.66335	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	L	0.34521	1.04	0.80722	D	1	D	0.62365	0.991	D	0.65987	0.94	T	0.21690	-1.0238	10	0.51188	T	0.08	.	18.6257	0.91336	0.0:1.0:0.0:0.0	.	892	Q7Z478	DHX29_HUMAN	I	892	ENSP00000251636:R892I	ENSP00000251636:R892I	R	-	2	0	DHX29	54606214	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.221000	0.78016	2.478000	0.83669	0.563000	0.77884	AGA		0.313	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
DHX29	54505	broad.mit.edu	37	5	54581678	54581678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54581678C>A	ENST00000251636.5	-	9	1226	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	360						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.E360*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCATGAGGTTCTTTCTTTTTA	0.358																																					p.E360X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1078T	5						.						60.0	62.0	61.0					5																	54581678		2203	4297	6500	54617435	SO:0001587	stop_gained	54505	exon9			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1078G>T	5.37:g.54581678C>A	ENSP00000251636:p.Glu360*		54617435	NM_019030	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	38	6.969369	0.97971	.	.	ENSG00000067248	ENST00000251636	.	.	.	5.8	5.8	0.92144	.	0.240957	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	15.5169	0.75830	0.0:0.8623:0.1377:0.0	.	.	.	.	X	360	.	ENSP00000251636:E360X	E	-	1	0	DHX29	54617435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.615000	0.67702	2.745000	0.94114	0.650000	0.86243	GAA		0.358	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	
SKIV2L2	23517	broad.mit.edu	37	5	54683847	54683847	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54683847C>A	ENST00000230640.5	+	19	2352	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L599M	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	700					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.L700M(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGAAGTACTTCTGCGCTGTAG	0.383																																					p.L700M	Melanoma(2;92 134 23744 29976 33782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2098A	5						.						104.0	104.0	104.0					5																	54683847		2203	4300	6503	54719604	SO:0001583	missense	23517	exon19			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2098C>A	5.37:g.54683847C>A	ENSP00000230640:p.Leu700Met		54719604	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763353	0.31228	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.36340	1.26;1.3	5.7	1.43	0.22495	.	0.145674	0.47093	D	0.000248	T	0.33789	0.0875	M	0.63428	1.95	0.42879	D	0.994163	P;B	0.36683	0.565;0.45	B;B	0.39562	0.215;0.303	T	0.11299	-1.0593	10	0.56958	D	0.05	-16.6034	6.8082	0.23788	0.1167:0.6002:0.0:0.2831	.	599;700	F5H7E2;P42285	.;SK2L2_HUMAN	M	700;599	ENSP00000230640:L700M;ENSP00000442583:L599M	ENSP00000230640:L700M	L	+	1	2	SKIV2L2	54719604	0.227000	0.23707	0.996000	0.52242	0.706000	0.40770	0.263000	0.18478	0.358000	0.24211	-0.384000	0.06662	CTG		0.383	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
SLC38A9	153129	broad.mit.edu	37	5	54960688	54960688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:54960688G>T	ENST00000396865.2	-	8	1121	c.530C>A	c.(529-531)tCg>tAg	p.S177*	SLC38A9_ENST00000416547.2_Nonsense_Mutation_p.S53*|SLC38A9_ENST00000318672.3_Nonsense_Mutation_p.S177*|SLC38A9_ENST00000515629.1_Nonsense_Mutation_p.S114*|SLC38A9_ENST00000539768.1_Nonsense_Mutation_p.S177*|SLC38A9_ENST00000512595.1_Nonsense_Mutation_p.S150*	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	177					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.S177*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GGTATCCAACGAAACTAGATA	0.363																																					p.S177X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C530A	5						.						29.0	27.0	28.0					5																	54960688		2203	4299	6502	54996445	SO:0001587	stop_gained	153129	exon8				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.530C>A	5.37:g.54960688G>T	ENSP00000380074:p.Ser177*		54996445	NM_173514	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Nonsense_Mutation	SNP	ENST00000396865.2	37	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832244	0.91036	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595;ENST00000511233;ENST00000512208	.	.	.	5.6	5.6	0.85130	.	0.324438	0.32459	N	0.006077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1405	9.8329	0.40952	0.1576:0.0:0.8424:0.0	.	.	.	.	X	177;177;177;114;53;150;177;114	.	ENSP00000316596:S177X	S	-	2	0	SLC38A9	54996445	1.000000	0.71417	0.960000	0.40013	0.180000	0.23129	2.949000	0.49074	2.635000	0.89317	0.650000	0.86243	TCG		0.363	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514	
DDX4	54514	broad.mit.edu	37	5	55056029	55056029	+	Splice_Site	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:55056029A>C	ENST00000505374.1	+	4	221	c.129A>C	c.(127-129)gaA>gaC	p.E43D	DDX4_ENST00000354991.5_Splice_Site_p.E43D|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Splice_Site_p.E43D|DDX4_ENST00000353507.5_Splice_Site_p.E43D	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	43					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.E43D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGCTTTAGAAATGGATGATG	0.373																																					p.E43D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A129C	5						.						169.0	166.0	167.0					5																	55056029		2203	4300	6503	55091786	SO:0001630	splice_region_variant	54514	exon4			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.128-1A>C	5.37:g.55056029A>C			55091786	NM_001166533	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.307967	0.40895	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	T;T;T;T;T;T;T	0.55930	1.97;1.92;1.99;3.44;0.57;1.97;0.49	5.04	3.86	0.44501	.	0.865722	0.10407	N	0.678438	T	0.35682	0.0940	N	0.24115	0.695	0.29330	N	0.866746	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.0	T	0.30001	-0.9993	10	0.18276	T	0.48	.	7.5938	0.28035	0.7911:0.0:0.0:0.2089	.	43;43;43	D6RDK4;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	D	43	ENSP00000334167:E43D;ENSP00000425359:E43D;ENSP00000424838:E43D;ENSP00000427167:E43D;ENSP00000424112:E43D;ENSP00000347087:E43D;ENSP00000427522:E43D	ENSP00000334167:E43D	E	+	3	2	DDX4	55091786	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	0.922000	0.28734	0.897000	0.36392	0.460000	0.39030	GAA		0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	Missense_Mutation
IL31RA	133396	broad.mit.edu	37	5	55178891	55178891	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:55178891G>T	ENST00000447346.2	+	5	539	c.474G>T	c.(472-474)aaG>aaT	p.K158N	IL31RA_ENST00000354961.4_Missense_Mutation_p.K139N|IL31RA_ENST00000359040.5_Missense_Mutation_p.K158N|IL31RA_ENST00000396836.2_Missense_Mutation_p.K158N|IL31RA_ENST00000396834.1_Missense_Mutation_p.K139N|IL31RA_ENST00000297015.3_Missense_Mutation_p.K16N|IL31RA_ENST00000490985.1_Missense_Mutation_p.K16N	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	126	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.K158N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AACCACCTAAGATTTTCCGTG	0.343																																					p.K158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G474T	5						.						98.0	97.0	97.0					5																	55178891		2203	4300	6503	55214648	SO:0001583	missense	133396	exon5			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.474G>T	5.37:g.55178891G>T	ENSP00000415900:p.Lys158Asn		55214648	NM_139017	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862063	0.17178	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.9	1.94	0.25998	Fibronectin, type III (4);Immunoglobulin-like fold (1);	5.822590	0.00447	N	0.000081	T	0.37972	0.1023	N	0.22421	0.69	0.09310	N	1	B;B;B;B;P	0.34546	0.175;0.302;0.302;0.202;0.456	B;B;B;B;B	0.30943	0.122;0.051;0.075;0.032;0.098	T	0.22977	-1.0201	10	0.27785	T	0.31	-0.0717	6.083	0.19952	0.1652:0.289:0.5458:0.0	.	126;158;139;158;158	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	N	158;139;158;158;16;16;139	ENSP00000380048:K158N;ENSP00000380046:K139N;ENSP00000415900:K158N;ENSP00000351935:K158N;ENSP00000297015:K16N;ENSP00000427533:K16N;ENSP00000347047:K139N	ENSP00000297015:K16N	K	+	3	2	IL31RA	55214648	0.751000	0.28327	0.265000	0.24526	0.606000	0.37113	0.937000	0.28951	0.373000	0.24621	-0.150000	0.13652	AAG		0.343	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
IL31RA	133396	broad.mit.edu	37	5	55195927	55195927	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:55195927G>A	ENST00000447346.2	+	8	1101	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	IL31RA_ENST00000396834.1_Missense_Mutation_p.A327T|IL31RA_ENST00000297015.3_Missense_Mutation_p.A204T|IL31RA_ENST00000354961.4_Missense_Mutation_p.A327T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A346T|IL31RA_ENST00000490985.1_Missense_Mutation_p.A204T|IL31RA_ENST00000359040.5_Missense_Mutation_p.A346T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	314	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.A346T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCTCCAGTGGCCACCCTGAG	0.463																																					p.A346T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	5						.						112.0	123.0	120.0					5																	55195927		2203	4300	6503	55231684	SO:0001583	missense	133396	exon8			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1036G>A	5.37:g.55195927G>A	ENSP00000415900:p.Ala346Thr		55231684	NM_139017	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	4.428	0.079229	0.08533	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.41	0.531	0.17108	Fibronectin, type III (1);	0.527681	0.21180	N	0.078822	T	0.13927	0.0337	L	0.49350	1.555	0.09310	N	1	B;B;B;P;P	0.49358	0.037;0.145;0.145;0.457;0.923	B;B;B;B;B	0.42771	0.028;0.13;0.062;0.135;0.397	T	0.30060	-0.9991	10	0.11485	T	0.65	-11.3748	9.7356	0.40386	0.3367:0.0:0.6633:0.0	.	314;346;327;346;346	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	T	346;327;346;346;204;204;327	ENSP00000380048:A346T;ENSP00000380046:A327T;ENSP00000415900:A346T;ENSP00000351935:A346T;ENSP00000297015:A204T;ENSP00000427533:A204T;ENSP00000347047:A327T	ENSP00000297015:A204T	A	+	1	0	IL31RA	55231684	0.199000	0.23386	0.000000	0.03702	0.121000	0.20230	1.020000	0.30027	-0.234000	0.09782	-0.797000	0.03246	GCC		0.463	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017	
ANKRD55	79722	broad.mit.edu	37	5	55407469	55407469	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:55407469C>T	ENST00000341048.4	-	10	1257	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	ANKRD55_ENST00000434982.2_Missense_Mutation_p.R81Q|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R326Q|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	369								p.R369Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTCTCTGTATCGGTCCCTGCT	0.502																																					p.R369Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106A	5						.						271.0	261.0	265.0					5																	55407469		2203	4300	6503	55443226	SO:0001583	missense	79722	exon10			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1106G>A	5.37:g.55407469C>T	ENSP00000342295:p.Arg369Gln		55443226	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.391|9.391	1.075527|1.075527	0.20227|0.20227	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000505970|ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	.|T;T;T	.|0.38560	.|1.38;1.13;1.46	5.32|5.32	-5.85|-5.85	0.02311|0.02311	.|.	.|0.952921	.|0.08637	.|N	.|0.916044	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.0;0.002	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.18053|0.18053	-1.0349|-1.0349	6|10	0.18710|0.27785	T|T	0.47|0.31	.|.	1.1619|1.1619	0.01808|0.01808	0.1839:0.2306:0.1809:0.4046|0.1839:0.2306:0.1809:0.4046	.|.	.|369;368	.|B3KVT8;Q3KP44	.|.;ANR55_HUMAN	N|Q	114|369;369;326;81	.|ENSP00000342295:R369Q;ENSP00000424230:R326Q;ENSP00000429421:R81Q	ENSP00000422370:D114N|ENSP00000342295:R369Q	D|R	-|-	1|2	0|0	ANKRD55|ANKRD55	55443226|55443226	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.270000|0.270000	0.26580|0.26580	-1.687000|-1.687000	0.01927|0.01927	-1.301000|-1.301000	0.02338|0.02338	-0.252000|-0.252000	0.11476|0.11476	GAT|CGA		0.502	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
MAP3K1	4214	broad.mit.edu	37	5	56168531	56168531	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:56168531G>T	ENST00000399503.3	+	8	1487	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	496					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TCTAAGTGGAGATCTCATGAT	0.289																																					p.R496I												.	.	0			c.G1487T	5						.						83.0	78.0	80.0					5																	56168531		1787	4065	5852	56204288	SO:0001583	missense	4214	exon8			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1487G>T	5.37:g.56168531G>T	ENSP00000382423:p.Arg496Ile		56204288	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175060	0.78564	.	.	ENSG00000095015	ENST00000399503	T	0.69175	-0.38	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);	0.055919	0.64402	D	0.000001	T	0.59335	0.2186	L	0.44542	1.39	0.58432	D	0.999998	P	0.44195	0.828	B	0.32624	0.149	T	0.66081	-0.6012	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	496	Q13233	M3K1_HUMAN	I	496	ENSP00000382423:R496I	ENSP00000382423:R496I	R	+	2	0	MAP3K1	56204288	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	6.030000	0.70903	2.834000	0.97654	0.650000	0.86243	AGA		0.289	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
MAP3K1	4214	broad.mit.edu	37	5	56176993	56176993	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:56176993C>A	ENST00000399503.3	+	13	2263	c.2263C>A	c.(2263-2265)Ctt>Att	p.L755I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	755					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L592I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCAAGAACTTCTTGGCCGCCT	0.368																																					p.L755I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2263A	5						.						151.0	135.0	140.0					5																	56176993		1826	4081	5907	56212750	SO:0001583	missense	4214	exon13			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2263C>A	5.37:g.56176993C>A	ENSP00000382423:p.Leu755Ile		56212750	NM_005921		Missense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503962	0.64410	.	.	ENSG00000095015	ENST00000399503	T	0.66280	-0.2	5.87	4.79	0.61399	.	0.000000	0.64402	D	0.000002	T	0.75110	0.3805	M	0.61703	1.905	0.52501	D	0.999953	D	0.69078	0.997	D	0.72625	0.978	T	0.76386	-0.2978	10	0.87932	D	0	.	13.67	0.62418	0.0:0.8966:0.0:0.1034	.	755	Q13233	M3K1_HUMAN	I	755	ENSP00000382423:L755I	ENSP00000382423:L755I	L	+	1	0	MAP3K1	56212750	0.975000	0.34042	1.000000	0.80357	0.991000	0.79684	2.259000	0.43259	2.941000	0.99782	0.655000	0.94253	CTT		0.368	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
SETD9	133383	broad.mit.edu	37	5	56207243	56207243	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:56207243C>A	ENST00000285947.2	+	2	732	c.346C>A	c.(346-348)Ctt>Att	p.L116I	SETD9_ENST00000475908.1_3'UTR|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000541720.1_Missense_Mutation_p.L116I	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	116							methyltransferase activity (GO:0008168)	p.L116I(1)									AGAAGAAATTCTTTACAAGAC	0.398																																					p.L116I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C346A	5						.						78.0	79.0	79.0					5																	56207243		2203	4300	6503	56243000	SO:0001583	missense	133383	exon2			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.346C>A	5.37:g.56207243C>A	ENSP00000285947:p.Leu116Ile		56243000	NM_001171990	F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836296	0.71373	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.42513	1.05;0.97	5.57	4.69	0.59074	.	0.121446	0.56097	D	0.000025	T	0.45034	0.1322	L	0.60455	1.87	0.28747	N	0.90165	D	0.53885	0.963	P	0.50537	0.643	T	0.45131	-0.9282	10	0.42905	T	0.14	-15.0504	7.2682	0.26242	0.1398:0.7208:0.0:0.1394	.	116	Q8NE22	CE035_HUMAN	I	116	ENSP00000285947:L116I;ENSP00000442886:L116I	ENSP00000285947:L116I	L	+	1	0	C5orf35	56243000	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	1.473000	0.35387	1.326000	0.45319	0.655000	0.94253	CTT		0.398	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706	
MIER3	166968	broad.mit.edu	37	5	56229214	56229214	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:56229214C>T	ENST00000381199.3	-	8	617	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	MIER3_ENST00000381226.3_Missense_Mutation_p.E208K|MIER3_ENST00000381213.3_Missense_Mutation_p.E203K|MIER3_ENST00000409421.1_Missense_Mutation_p.E140K			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	203	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E203K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AACTGGTCTTCGTTTTCATAT	0.353																																					p.E203K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G607A	5						.						105.0	98.0	100.0					5																	56229214		2203	4300	6503	56264971	SO:0001583	missense	166968	exon8			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.607G>A	5.37:g.56229214C>T	ENSP00000370596:p.Glu203Lys		56264971	NM_152622	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.360806	0.95877	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.4	5.4	0.78164	ELM2 domain (2);	0.140835	0.64402	D	0.000006	T	0.38081	0.1027	L	0.60957	1.885	0.80722	D	1	P;P;B	0.49253	0.91;0.921;0.311	B;B;B	0.43413	0.419;0.285;0.065	T	0.35450	-0.9788	10	0.72032	D	0.01	-7.2374	19.1664	0.93559	0.0:1.0:0.0:0.0	.	203;208;203	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	K	208;203;203;140	ENSP00000370624:E208K;ENSP00000370611:E203K;ENSP00000370596:E203K;ENSP00000386584:E140K	ENSP00000370596:E203K	E	-	1	0	MIER3	56264971	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.538000	0.85594	0.591000	0.81541	GAA		0.353	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	G	A	rs374948712		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:56778460G>A	ENST00000423391.1	-	1	176	c.75C>T	c.(73-75)gaC>gaT	p.D25D	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	25						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D25D(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20616	0.0		0.0	False		,,,				2504	0.0				p.D25D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C75T	5						.	G		3,4403	6.2+/-15.9	0,3,2200	85.0	58.0	67.0		75	-6.9	0.6	5		67	0,8600		0,0,4300	no	coding-synonymous	ACTBL2	NM_001017992.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		25/377	56778460	3,13003	2203	4300	6503	56814217	SO:0001819	synonymous_variant	345651	exon1				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.75C>T	5.37:g.56778460G>A			56814217	NM_001017992	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	CCDS34163.1																																																																																				0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
PLK2	10769	broad.mit.edu	37	5	57750454	57750454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:57750454G>A	ENST00000274289.3	-	14	2314	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	672	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R672*(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TATTCCATTCGATTTTTTAAT	0.408																																					p.R672X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2014T	5						.						152.0	143.0	146.0					5																	57750454		2203	4300	6503	57786211	SO:0001587	stop_gained	10769	exon14				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.2014C>T	5.37:g.57750454G>A	ENSP00000274289:p.Arg672*		57786211	NM_006622	O60679|Q96CV7|Q9UE61	Nonsense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	40	8.216293	0.98709	.	.	ENSG00000145632	ENST00000274289	.	.	.	5.92	5.92	0.95590	.	0.054436	0.64402	D	0.000001	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.33	14.1764	0.65544	0.0:0.0:0.7515:0.2485	.	.	.	.	X	672	.	ENSP00000274289:R672X	R	-	1	2	PLK2	57786211	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.805000	0.62561	2.818000	0.97014	0.655000	0.94253	CGA		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
PLK2	10769	broad.mit.edu	37	5	57751901	57751901	+	Missense_Mutation	SNP	G	G	A	rs148954251		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:57751901G>A	ENST00000274289.3	-	10	1636	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	446					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R446W(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACTATCATCCGAATAGCATCC	0.468																																					p.R446W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1336T	5						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	104.0	106.0		1336	5.0	1.0	5	dbSNP_134	106	0,8600		0,0,4300	no	missense	PLK2	NM_006622.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	446/686	57751901	1,13005	2203	4300	6503	57787658	SO:0001583	missense	10769	exon10				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1336C>T	5.37:g.57751901G>A	ENSP00000274289:p.Arg446Trp		57787658	NM_006622	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027044	0.93518	2.27E-4	0.0	ENSG00000145632	ENST00000274289	T	0.69926	-0.44	5.88	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.44542	1.39	0.80722	D	1	D	0.69078	0.997	P	0.53360	0.724	T	0.72527	-0.4266	10	0.66056	D	0.02	-15.7676	15.8492	0.78912	0.0:0.0:0.8637:0.1363	.	446	Q9NYY3	PLK2_HUMAN	W	446	ENSP00000274289:R446W	ENSP00000274289:R446W	R	-	1	2	PLK2	57787658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.279000	0.78599	2.788000	0.95919	0.650000	0.86243	CGG		0.468	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
PLK2	10769	broad.mit.edu	37	5	57752839	57752839	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:57752839G>T	ENST00000274289.3	-	8	1389	c.1089C>A	c.(1087-1089)ttC>ttA	p.F363L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	363					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.F363L(1)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTTTCTTAAAGAAATTCTTAG	0.383																																					p.F363L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1089A	5						.						61.0	66.0	64.0					5																	57752839		2203	4300	6503	57788596	SO:0001583	missense	10769	exon8				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1089C>A	5.37:g.57752839G>T	ENSP00000274289:p.Phe363Leu		57788596	NM_006622	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	CCDS3974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.158|9.158	1.018017|1.018017	0.19355|0.19355	.|.	.|.	ENSG00000145632|ENSG00000145632	ENST00000274289;ENST00000537944|ENST00000442330	T|.	0.66280|.	-0.2|.	5.28|5.28	4.42|4.42	0.53409|0.53409	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53769|0.53769	0.1817|0.1817	N|N	0.21545|0.21545	0.675|0.675	0.80722|0.80722	D|D	1|1	B|.	0.24258|.	0.1|.	B|.	0.21917|.	0.037|.	T|T	0.58831|0.58831	-0.7567|-0.7567	10|6	0.02654|0.66056	T|D	1|0.02	-19.8084|-19.8084	13.6948|13.6948	0.62572|0.62572	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	363|.	Q9NYY3|.	PLK2_HUMAN|.	L|Y	363|349	ENSP00000274289:F363L|.	ENSP00000274289:F363L|ENSP00000401861:S349Y	F|S	-|-	3|2	2|0	PLK2|PLK2	57788596|57788596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.380000|5.380000	0.66202|0.66202	1.227000|1.227000	0.43598|0.43598	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.383	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622	
GAPT	202309	broad.mit.edu	37	5	57790676	57790676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:57790676G>T	ENST00000396776.2	+	3	775	c.313G>T	c.(313-315)Gga>Tga	p.G105*	GAPT_ENST00000318469.2_Nonsense_Mutation_p.G105*	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	105					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G105*(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGCTAAAGGAAAAACCGA	0.398																																					p.G105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G313T	5						.						76.0	77.0	76.0					5																	57790676		2203	4300	6503	57826433	SO:0001587	stop_gained	202309	exon3			AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.313G>T	5.37:g.57790676G>T	ENSP00000379997:p.Gly105*		57826433	NM_152687		Nonsense_Mutation	SNP	ENST00000396776.2	37	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290918	0.95546	.	.	ENSG00000175857	ENST00000396776;ENST00000318469	.	.	.	5.05	1.3	0.21679	.	1.266820	0.05354	N	0.532383	.	.	.	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.6529	7.2771	0.26290	0.3578:0.0:0.6422:0.0	.	.	.	.	X	105	.	ENSP00000323075:G105X	G	+	1	0	GAPT	57826433	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.044000	0.13992	0.120000	0.18254	-0.150000	0.13652	GGA		0.398	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1	NM_152687	
RAB3C	115827	broad.mit.edu	37	5	57913641	57913641	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:57913641G>A	ENST00000282878.4	+	2	365	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	66					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D66N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTGGGATCGATTTCAAAGT	0.408																																					p.D66N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	5						.						57.0	52.0	54.0					5																	57913641		2203	4299	6502	57949398	SO:0001583	missense	115827	exon2			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.196G>A	5.37:g.57913641G>A	ENSP00000282878:p.Asp66Asn		57949398	NM_138453		Missense_Mutation	SNP	ENST00000282878.4	37	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486112	0.96323	.	.	ENSG00000152932	ENST00000282878	D	0.83335	-1.71	5.7	5.7	0.88788	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.91600	0.7346	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91959	0.5577	10	0.87932	D	0	-21.409	19.8247	0.96612	0.0:0.0:1.0:0.0	.	66	Q96E17	RAB3C_HUMAN	N	66	ENSP00000282878:D66N	ENSP00000282878:D66N	D	+	1	0	RAB3C	57949398	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	GAT		0.408	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
RAB3C	115827	broad.mit.edu	37	5	58147050	58147050	+	Missense_Mutation	SNP	C	C	T	rs199852469		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:58147050C>T	ENST00000282878.4	+	5	725	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	186					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.R186C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GACATTTGAGCGCCTTGTGGA	0.433																																					p.R186C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C556T	5						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	148.0	135.0	140.0		556	5.9	1.0	5		140	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAB3C	NM_138453.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	186/228	58147050	2,13004	2203	4300	6503	58182807	SO:0001583	missense	115827	exon5			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.556C>T	5.37:g.58147050C>T	ENSP00000282878:p.Arg186Cys		58182807	NM_138453		Missense_Mutation	SNP	ENST00000282878.4	37	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187296	0.78789	2.27E-4	1.16E-4	ENSG00000152932	ENST00000282878	T	0.80123	-1.34	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000013	T	0.75989	0.3925	L	0.38953	1.18	0.80722	D	1	B	0.34147	0.438	B	0.31751	0.135	T	0.75701	-0.3226	10	0.62326	D	0.03	-10.4721	20.3539	0.98825	0.0:1.0:0.0:0.0	.	186	Q96E17	RAB3C_HUMAN	C	186	ENSP00000282878:R186C	ENSP00000282878:R186C	R	+	1	0	RAB3C	58182807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.946000	0.63576	2.826000	0.97356	0.655000	0.94253	CGC		0.433	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
PDE4D	5144	broad.mit.edu	37	5	59064154	59064154	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:59064154C>A	ENST00000340635.6	-	1	631				PDE4D_ENST00000502575.1_Missense_Mutation_p.R61I|PDE4D_ENST00000507116.1_Missense_Mutation_p.R61I|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R61I(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)	GGGGGAATTTCTCGGAGAGAT	0.522																																					p.R61I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G182T	5						.						180.0	170.0	173.0					5																	59064154		876	1991	2867	59099911	SO:0001627	intron_variant	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.455+124840G>T	5.37:g.59064154C>A			59099911	NM_001197218	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Intron	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809463	0.90707	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82255	-0.36;-1.59	5.36	5.36	0.76844	.	.	.	.	.	D	0.91570	0.7337	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.74348	0.975;0.983	D	0.92051	0.5648	8	0.72032	D	0.01	.	18.9003	0.92440	0.0:1.0:0.0:0.0	.	61;61	Q08499-12;Q08499-6	.;.	I	61	ENSP00000424852:R61I;ENSP00000425917:R61I	ENSP00000308485:R61I	R	-	2	0	PDE4D	59099911	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.289000	0.78701	2.783000	0.95769	0.655000	0.94253	AGA		0.522	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
ERCC8	1161	broad.mit.edu	37	5	60200628	60200628	+	Silent	SNP	A	A	G	rs561001438		TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:60200628A>G	ENST00000265038.5	-	5	514	c.472T>C	c.(472-474)Ttg>Ctg	p.L158L	ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Intron|ERCC8_ENST00000426742.2_Silent_p.L100L	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	158					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.L158L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CCTGCTACCAAACAGTGCTTG	0.328													A|||	1	0.000199681	0.0	0.0	5008	,	,		8314	0.0		0.0	False		,,,				2504	0.001				p.L158L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T472C	5						.						119.0	120.0	119.0					5																	60200628		2203	4298	6501	60236385	SO:0001819	synonymous_variant	1161	exon5			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.472T>C	5.37:g.60200628A>G			60236385	NM_000082	B2RB64|Q6FHX5|Q96GB9	Silent	SNP	ENST00000265038.5	37	CCDS3978.1																																																																																				0.328	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082	
KIF2A	3796	broad.mit.edu	37	5	61653555	61653555	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:61653555G>A	ENST00000401507.3	+	8	1003	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.R231Q|KIF2A_ENST00000506857.1_Missense_Mutation_p.R185Q|KIF2A_ENST00000381103.2_Missense_Mutation_p.R211Q	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R231Q(1)|p.R204Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GTAAGAAAACGACCACTCAAT	0.254																																					p.R231Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G692A	5						.						78.0	82.0	81.0					5																	61653555		2201	4297	6498	61689312	SO:0001583	missense	3796	exon8			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.692G>A	5.37:g.61653555G>A	ENSP00000385622:p.Arg231Gln		61689312	NM_001098511	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	G	34	5.377430	0.95945	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.3	5.3	0.74995	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.99507	4.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98421	1.0577	10	0.87932	D	0	.	18.9318	0.92570	0.0:0.0:1.0:0.0	.	231;231;231;211	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	Q	231;211;212;231;185	ENSP00000385622:R231Q;ENSP00000370493:R211Q;ENSP00000423542:R212Q;ENSP00000385000:R231Q;ENSP00000423772:R185Q	ENSP00000370493:R211Q	R	+	2	0	KIF2A	61689312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.484000	0.97940	2.459000	0.83118	0.585000	0.79938	CGA		0.254	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520	
IPO11	51194	broad.mit.edu	37	5	61781275	61781275	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:61781275A>G	ENST00000325324.6	+	12	1373	c.1204A>G	c.(1204-1206)Aaa>Gaa	p.K402E	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.K442E	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	402					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.K402E(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATTCTTGGAAATATAGTTT	0.294																																					p.K442E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1324G	5						.						95.0	111.0	105.0					5																	61781275		2203	4300	6503	61817032	SO:0001583	missense	51194	exon12			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1204A>G	5.37:g.61781275A>G	ENSP00000316651:p.Lys402Glu		61817032	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552352	0.86127	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.33654	1.4;1.4	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.047137	0.85682	D	0.000000	T	0.42607	0.1210	L	0.37850	1.14	0.80722	D	1	P;D	0.76494	0.916;0.999	P;D	0.64410	0.721;0.925	T	0.25779	-1.0122	10	0.02654	T	1	.	14.752	0.69533	1.0:0.0:0.0:0.0	.	442;402	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	E	402;442	ENSP00000316651:K402E;ENSP00000386992:K442E	ENSP00000316651:K402E	K	+	1	0	IPO11	61817032	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.183000	0.89700	1.962000	0.57031	0.528000	0.53228	AAA		0.294	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
RNF180	285671	broad.mit.edu	37	5	63509432	63509432	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:63509432T>C	ENST00000389100.4	+	4	351	c.279T>C	c.(277-279)cgT>cgC	p.R93R	RNF180_ENST00000296615.6_Silent_p.R93R|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	93					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R93R(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GTGGGGCCCGTTTAGGGGGCT	0.448																																					p.R93R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T279C	5						.						133.0	147.0	142.0					5																	63509432		2201	4300	6501	63545188	SO:0001819	synonymous_variant	285671	exon4			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.279T>C	5.37:g.63509432T>C			63545188	NM_178532	Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	ENST00000389100.4	37	CCDS47219.1																																																																																				0.448	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
SREK1IP1	285672	broad.mit.edu	37	5	64020223	64020223	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64020223G>T	ENST00000513458.4	-	5	623	c.456C>A	c.(454-456)ttC>ttA	p.F152L		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	152					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.F152L(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ACTTTCTGGAGAATTCAGAAC	0.294																																					p.F152L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C456A	5						.						35.0	36.0	35.0					5																	64020223		2203	4296	6499	64055979	SO:0001583	missense	285672	exon5			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.456C>A	5.37:g.64020223G>T	ENSP00000427401:p.Phe152Leu		64055979	NM_173829	Q32NC8	Missense_Mutation	SNP	ENST00000513458.4	37	CCDS34171.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257066	0.39896	.	.	ENSG00000153006	ENST00000513458	.	.	.	6.07	2.18	0.27775	.	0.855292	0.10954	N	0.615795	T	0.15089	0.0364	N	0.08118	0	0.23056	N	0.998366	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	9	0.13108	T	0.6	3.5401	3.5782	0.07942	0.2817:0.0:0.5436:0.1747	.	152	Q8N9Q2	SR1IP_HUMAN	L	152	.	ENSP00000427401:F152L	F	-	3	2	SREK1IP1	64055979	0.997000	0.39634	0.997000	0.53966	0.935000	0.57460	0.578000	0.23773	0.392000	0.25172	0.655000	0.94253	TTC		0.294	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829	
ADAMTS6	11174	broad.mit.edu	37	5	64466507	64466507	+	5'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64466507G>T	ENST00000314351.5	-	0	840							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R232R(1)|p.R1061R(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATGGAGGCCGAACAGTTTCT	0.488																																					p.R1061R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3181A	5						.						96.0	84.0	88.0					5																	64466507		2203	4300	6503	64502263	SO:0001623	5_prime_UTR_variant	11174	exon24			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-482C>A	5.37:g.64466507G>T			64502263	NM_197941	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000314351.5	37																																																																																					0.488	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2	NM_197941	
ADAMTS6	11174	broad.mit.edu	37	5	64520778	64520778	+	IGR	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64520778A>G								ADAMTS6 (26186 upstream) : ADAMTS6 (72256 downstream)														p.F722L(1)									TCATTGAAGAACCCTTCAATG	0.507																																					p.F722L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2164C	5						.						106.0	87.0	93.0					5																	64520778		2203	4300	6503	64556534	SO:0001628	intergenic_variant	11174	exon17																															5.37:g.64520778A>G			64556534	NM_197941		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	A	12.99	2.104231	0.37145	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	ADAM-TS Spacer 1 (1);	0.048832	0.85682	D	0.000000	T	0.16214	0.0390	N	0.00332	-1.63	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26467	-1.0102	10	0.10902	T	0.67	.	15.7093	0.77612	1.0:0.0:0.0:0.0	.	722;722	D6R9L6;Q9UKP5	.;ATS6_HUMAN	L	722;672;722	ENSP00000370443:F722L;ENSP00000423551:F722L	ENSP00000261306:F672L	F	-	1	0	ADAMTS6	64556534	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.918000	0.69996	2.109000	0.64355	0.455000	0.32223	TTC	0	0.507								
ADAMTS6	11174	broad.mit.edu	37	5	64625262	64625262	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64625262A>G	ENST00000536360.1	-	9	1979	c.1166T>C	c.(1165-1167)aTt>aCt	p.I389T				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	389	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I389T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTCTTCATTAATGCTGCAGCT	0.423																																					p.I389T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1166C	5						.						89.0	78.0	82.0					5																	64625262		2203	4300	6503	64661018	SO:0001583	missense	11174	exon9			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1166T>C	5.37:g.64625262A>G	ENSP00000440995:p.Ile389Thr		64661018	NM_197941	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000536360.1	37		.	.	.	.	.	.	.	.	.	.	A	18.27	3.586958	0.66105	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680;ENST00000536360	T;T;T	0.70399	-0.48;-0.48;-0.48	5.89	5.89	0.94794	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.76938	2.355	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.981	D	0.86290	0.1673	10	0.87932	D	0	.	15.9526	0.79855	1.0:0.0:0.0:0.0	.	389;389	D6R9L6;Q9UKP5	.;ATS6_HUMAN	T	389	ENSP00000370443:I389T;ENSP00000423551:I389T;ENSP00000440995:I389T	ENSP00000261306:I389T	I	-	2	0	ADAMTS6	64661018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.251000	0.74343	0.482000	0.46254	ATT		0.423	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941	
PPWD1	23398	broad.mit.edu	37	5	64859300	64859300	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64859300C>T	ENST00000261308.5	+	1	235	c.163C>T	c.(163-165)Cct>Tct	p.P55S	CENPK_ENST00000508421.1_5'Flank|PPWD1_ENST00000538977.1_5'UTR|CENPK_ENST00000510693.1_5'Flank|CENPK_ENST00000514814.1_5'Flank|PPWD1_ENST00000535264.1_Silent_p.Y12Y|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000510354.1_5'Flank|CENPK_ENST00000396679.1_5'Flank	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	55					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.P55S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TGGACCTTTACCTGTGGAGGC	0.552																																					p.P55S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163T	5						.						76.0	65.0	69.0					5																	64859300		2203	4300	6503	64895056	SO:0001583	missense	23398	exon1			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.163C>T	5.37:g.64859300C>T	ENSP00000261308:p.Pro55Ser		64895056	NM_015342	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220912	0.95139	.	.	ENSG00000113593	ENST00000261308	T	0.63744	-0.06	4.85	4.85	0.62838	.	0.053759	0.85682	D	0.000000	T	0.80182	0.4576	M	0.87682	2.9	0.80722	D	1	D	0.67145	0.996	P	0.60415	0.874	D	0.83369	0.0006	10	0.56958	D	0.05	.	18.5132	0.90925	0.0:1.0:0.0:0.0	.	55	Q96BP3	PPWD1_HUMAN	S	55	ENSP00000261308:P55S	ENSP00000261308:P55S	P	+	1	0	PPWD1	64895056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.658000	0.90341	0.591000	0.81541	CCT		0.552	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342	
TRIM23	373	broad.mit.edu	37	5	64887748	64887748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64887748C>A	ENST00000231524.9	-	11	1944	c.1573G>T	c.(1573-1575)Gaa>Taa	p.E525*	TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E525*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E525*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	525	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E525*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TCAGTGATTTCTTCTACTGAC	0.373																																					p.E525X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1573T	5						.						83.0	81.0	82.0					5																	64887748		2203	4300	6503	64923504	SO:0001587	stop_gained	373	exon11			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1573G>T	5.37:g.64887748C>A	ENSP00000231524:p.Glu525*		64923504	NM_033228	Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	40	8.081703	0.98643	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	5.71	5.71	0.89125	.	0.050018	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8647	0.96799	0.0:1.0:0.0:0.0	.	.	.	.	X	525	.	ENSP00000231524:E525X	E	-	1	0	TRIM23	64923504	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.762000	0.85270	2.684000	0.91462	0.561000	0.74099	GAA		0.373	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM23	373	broad.mit.edu	37	5	64893000	64893000	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64893000C>T	ENST00000231524.9	-	8	1558	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q	TRIM23_ENST00000274327.7_Missense_Mutation_p.R396Q|TRIM23_ENST00000381018.3_Missense_Mutation_p.R396Q	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	396	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R396Q(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATGTGAACTCGATTATCCTA	0.318																																					p.R396Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1187A	5						.						83.0	81.0	82.0					5																	64893000		2203	4300	6503	64928756	SO:0001583	missense	373	exon8			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1187G>A	5.37:g.64893000C>T	ENSP00000231524:p.Arg396Gln		64928756	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319483	0.95682	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74106	-0.75;-0.74;-0.81	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.996	D	0.84563	0.0651	10	0.66056	D	0.02	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	396;396;396	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	396	ENSP00000231524:R396Q;ENSP00000370406:R396Q;ENSP00000274327:R396Q	ENSP00000231524:R396Q	R	-	2	0	TRIM23	64928756	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CGA		0.318	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM23	373	broad.mit.edu	37	5	64905248	64905248	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64905248C>T	ENST00000231524.9	-	6	1237	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.R289Q|TRIM23_ENST00000381018.3_Missense_Mutation_p.R289Q	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	289					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R289Q(3)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AAAATAAGCTCGAATACATGA	0.353																																					p.R289Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G866A	5						.						85.0	78.0	80.0					5																	64905248		2203	4300	6503	64941004	SO:0001583	missense	373	exon6			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.866G>A	5.37:g.64905248C>T	ENSP00000231524:p.Arg289Gln		64941004	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540007	0.96474	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.74632	-0.78;-0.78;-0.86	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.61703	1.905	0.80722	D	1	D;D;D	0.61697	0.957;0.99;0.975	B;P;B	0.46718	0.246;0.525;0.427	T	0.80216	-0.1474	10	0.56958	D	0.05	.	19.5154	0.95162	0.0:1.0:0.0:0.0	.	289;289;289	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	289	ENSP00000231524:R289Q;ENSP00000370406:R289Q;ENSP00000274327:R289Q	ENSP00000231524:R289Q	R	-	2	0	TRIM23	64941004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.685000	0.91497	0.655000	0.94253	CGA		0.353	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRIM23	373	broad.mit.edu	37	5	64910015	64910015	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64910015A>T	ENST00000231524.9	-	3	647	c.276T>A	c.(274-276)aaT>aaA	p.N92K	TRIM23_ENST00000274327.7_Missense_Mutation_p.N92K|TRIM23_ENST00000381018.3_Missense_Mutation_p.N92K	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N92K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAAAGCAAAATTTTTTTTCA	0.358																																					p.N92K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T276A	5						.						100.0	106.0	104.0					5																	64910015		2203	4300	6503	64945771	SO:0001583	missense	373	exon3			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.276T>A	5.37:g.64910015A>T	ENSP00000231524:p.Asn92Lys		64945771	NM_033228	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831941	0.71258	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.94862	-3.54;-3.54;-3.54	5.04	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.97867	0.9299	H	0.97158	3.95	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	D	0.97112	0.9805	10	0.87932	D	0	.	9.0434	0.36331	0.7895:0.0:0.2105:0.0	.	92;92;92	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	K	92	ENSP00000231524:N92K;ENSP00000370406:N92K;ENSP00000274327:N92K	ENSP00000231524:N92K	N	-	3	2	TRIM23	64945771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.762000	0.38451	0.717000	0.32145	0.477000	0.44152	AAT		0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
TRAPPC13	80006	broad.mit.edu	37	5	64960393	64960393	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64960393C>T	ENST00000399438.3	+	13	1554	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	TRAPPC13_ENST00000231526.4_Silent_p.I397I|TRAPPC13_ENST00000505553.1_Silent_p.I398I|TRAPPC13_ENST00000438419.2_Silent_p.I404I|TRAPPC13_ENST00000545191.1_Silent_p.I405I	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	403				I -> V (in Ref. 5; AAI42995). {ECO:0000305}.				p.I403I(2)									ATGATGACATCGCACAAGTCT	0.373																																					p.I403I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1209T	5						.						83.0	77.0	79.0					5																	64960393		1884	4111	5995	64996149	SO:0001819	synonymous_variant	80006	exon13				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.1209C>T	5.37:g.64960393C>T			64996149	NM_024941	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Silent	SNP	ENST00000399438.3	37	CCDS47222.1																																																																																				0.373	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941	
SGTB	54557	broad.mit.edu	37	5	64981265	64981265	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:64981265C>A	ENST00000381007.4	-	6	644	c.409G>T	c.(409-411)Gat>Tat	p.D137Y		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	137								p.D137Y(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTTATCGCATCTGTGTAGTGA	0.388																																					p.D137Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409T	5						.						196.0	171.0	180.0					5																	64981265		2203	4300	6503	65017021	SO:0001583	missense	54557	exon6			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.409G>T	5.37:g.64981265C>A	ENSP00000370395:p.Asp137Tyr		65017021	NM_019072		Missense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871593	0.72065	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.60797	0.16;0.16	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.046960	0.85682	D	0.000000	T	0.60130	0.2245	L	0.51853	1.615	0.58432	D	0.999997	P	0.42556	0.783	B	0.43916	0.436	T	0.61019	-0.7147	10	0.46703	T	0.11	-20.224	19.4332	0.94779	0.0:1.0:0.0:0.0	.	137	Q96EQ0	SGTB_HUMAN	Y	137	ENSP00000370395:D137Y;ENSP00000421447:D137Y	ENSP00000370395:D137Y	D	-	1	0	SGTB	65017021	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.433000	0.80362	2.659000	0.90383	0.655000	0.94253	GAT		0.388	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	
NLN	57486	broad.mit.edu	37	5	65054652	65054652	+	Splice_Site	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:65054652A>G	ENST00000380985.5	+	2	478	c.300A>G	c.(298-300)atA>atG	p.I100M	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	100						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.I100M(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TAAAGTATATAGGTGGGTCAG	0.408																																					p.I100M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A300G	5						.						120.0	111.0	114.0					5																	65054652		2203	4300	6503	65090408	SO:0001630	splice_region_variant	57486	exon2			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.301+1A>G	5.37:g.65054652A>G			65090408	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	A	9.907	1.208427	0.22205	.	.	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.50277	0.75	5.5	5.5	0.81552	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.222293	0.46145	D	0.000318	T	0.40171	0.1106	L	0.36672	1.1	0.80722	D	1	B;P	0.47962	0.002;0.903	B;B	0.39562	0.004;0.303	T	0.43114	-0.9411	10	0.66056	D	0.02	-30.227	15.622	0.76813	1.0:0.0:0.0:0.0	.	100;100	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	M	100	ENSP00000370372:I100M	ENSP00000339283:I100M	I	+	3	3	NLN	65090408	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	1.785000	0.38684	2.102000	0.63906	0.533000	0.62120	ATA		0.408	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		Missense_Mutation
NLN	57486	broad.mit.edu	37	5	65105927	65105927	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:65105927C>T	ENST00000380985.5	+	11	1956	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	NLN_ENST00000502464.1_Missense_Mutation_p.S489L	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	593						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.S593L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ACCAACACATCGCTGGATGCT	0.398																																					p.S593L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1778T	5						.						118.0	113.0	115.0					5																	65105927		2203	4300	6503	65141683	SO:0001583	missense	57486	exon11			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1778C>T	5.37:g.65105927C>T	ENSP00000370372:p.Ser593Leu		65141683	NM_020726	Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422553	0.25639	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.12147	2.71;2.71;2.71	5.9	5.03	0.67393	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.465778	0.26474	N	0.024167	T	0.13970	0.0338	L	0.33339	1.005	0.09310	N	0.999992	B;B	0.21753	0.06;0.06	B;B	0.26202	0.067;0.067	T	0.17198	-1.0377	10	0.62326	D	0.03	-1.1605	15.0887	0.72177	0.0:0.9322:0.0:0.0678	.	270;593	Q96K48;Q9BYT8	.;NEUL_HUMAN	L	593;489;593;303	ENSP00000370372:S593L;ENSP00000423214:S489L;ENSP00000427417:S303L	ENSP00000339283:S593L	S	+	2	0	NLN	65141683	0.005000	0.15991	0.003000	0.11579	0.205000	0.24178	1.895000	0.39778	1.509000	0.48786	-0.152000	0.13540	TCG		0.398	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
ERBB2IP	55914	broad.mit.edu	37	5	65310528	65310528	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:65310528G>A	ENST00000284037.5	+	7	897	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E170K|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E170K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	170					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.E170K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AGAGCTTAGAGAAAACCAGTT	0.209																																					p.E170K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	5						.						26.0	27.0	27.0					5																	65310528		2155	4227	6382	65346284	SO:0001583	missense	55914	exon7				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.508G>A	5.37:g.65310528G>A	ENSP00000284037:p.Glu170Lys		65346284	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285082	0.95517	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94;2.94	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.31371	0.925	0.80722	D	1	P;D;D;D;P;D;D;D	0.76494	0.95;0.986;0.997;0.999;0.852;0.999;0.992;0.998	D;P;D;D;P;D;D;D	0.83275	0.925;0.857;0.98;0.99;0.545;0.996;0.933;0.919	T	0.01165	-1.1431	10	0.87932	D	0	.	19.6673	0.95898	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170;170;170	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	K	170	ENSP00000284037:E170K;ENSP00000370330:E170K;ENSP00000397833:E170K;ENSP00000370326:E170K;ENSP00000370323:E170K;ENSP00000370322:E170K;ENSP00000370325:E170K;ENSP00000422766:E170K;ENSP00000426632:E170K;ENSP00000422015:E170K	ENSP00000284037:E170K	E	+	1	0	ERBB2IP	65346284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.627000	0.90974	2.721000	0.93114	0.650000	0.86243	GAA		0.209	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
SREK1	140890	broad.mit.edu	37	5	65466607	65466607	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:65466607A>C	ENST00000380918.3	+	10	1628	c.968A>C	c.(967-969)aAa>aCa	p.K323T	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.K439T	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	323	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K323T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						gaacgggaaaaagagcatgag	0.418																																					p.K323T	GBM(10;31 347 27684 38976 41583)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A968C	5						.						97.0	97.0	97.0					5																	65466607		2203	4298	6501	65502363	SO:0001583	missense	140890	exon10			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.968A>C	5.37:g.65466607A>C	ENSP00000370305:p.Lys323Thr		65502363	NM_139168	A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185907	0.57909	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.45276	0.9;0.9	5.37	4.23	0.50019	.	0.394502	0.24191	N	0.040716	T	0.26738	0.0654	L	0.27053	0.805	0.29207	N	0.874847	P;P;P	0.52316	0.952;0.952;0.718	B;B;B	0.39617	0.305;0.305;0.217	T	0.17289	-1.0374	10	0.45353	T	0.12	.	9.064	0.36451	0.9163:0.0:0.0837:0.0	.	323;323;439	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	T	439;439;323	ENSP00000334538:K439T;ENSP00000370305:K323T	ENSP00000334538:K439T	K	+	2	0	SREK1	65502363	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	1.996000	0.40776	2.037000	0.60232	0.519000	0.50382	AAA		0.418	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199	
MAST4	375449	broad.mit.edu	37	5	66350237	66350237	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66350237G>A	ENST00000403625.2	+	5	975	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	MAST4_ENST00000405643.1_Missense_Mutation_p.R45Q|MAST4_ENST00000404260.3_Missense_Mutation_p.R227Q|MAST4_ENST00000490016.2_Missense_Mutation_p.R38Q|MAST4_ENST00000403666.1_Missense_Mutation_p.R38Q|MAST4_ENST00000261569.7_Missense_Mutation_p.R33Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	227						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R227Q(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATAGTTGCCGAACAAGCAAC	0.423																																					p.R38Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113A	5						.						72.0	68.0	69.0					5																	66350237		1883	4100	5983	66385993	SO:0001583	missense	375449	exon4			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.680G>A	5.37:g.66350237G>A	ENSP00000385727:p.Arg227Gln		66385993	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288148	0.95517	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000432426;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T	0.74106	-0.32;-0.32;1.26;-0.79;-0.81;-0.65	5.77	5.77	0.91146	.	0.225364	0.25089	U	0.033232	D	0.86012	0.5831	M	0.69358	2.11	0.32854	D	0.507104	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.991	D;D;D;D;P	0.78314	0.941;0.987;0.973;0.991;0.716	D	0.88093	0.2814	10	0.72032	D	0.01	-4.4909	19.9894	0.97361	0.0:0.0:1.0:0.0	.	45;227;33;38;38	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	Q	227;227;38;38;45;18;45;33;33;33	ENSP00000385048:R227Q;ENSP00000385727:R227Q;ENSP00000421739:R38Q;ENSP00000384313:R38Q;ENSP00000384099:R45Q;ENSP00000261569:R33Q	ENSP00000261569:R33Q	R	+	2	0	MAST4	66385993	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.398000	0.90195	2.726000	0.93360	0.561000	0.74099	CGA		0.423	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MAST4	375449	broad.mit.edu	37	5	66396356	66396356	+	Missense_Mutation	SNP	G	G	A	rs578052517	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66396356G>A	ENST00000403625.2	+	8	1301	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	MAST4_ENST00000405643.1_Missense_Mutation_p.E157K|MAST4_ENST00000404260.3_Missense_Mutation_p.E339K|MAST4_ENST00000490016.2_Missense_Mutation_p.E147K|MAST4_ENST00000403666.1_Missense_Mutation_p.E147K|MAST4_ENST00000261569.7_Missense_Mutation_p.E142K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	339						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E339K(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGTACCACCGAAAGCATCGC	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		18988	0.002		0.0	False		,,,				2504	0.0				p.E147K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	5						.						98.0	97.0	97.0					5																	66396356		2083	4221	6304	66432112	SO:0001583	missense	375449	exon7			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1006G>A	5.37:g.66396356G>A	ENSP00000385727:p.Glu336Lys		66432112	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	36	5.868118	0.97043	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.07	6.07	0.98685	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.302177	0.26338	U	0.024947	T	0.67543	0.2904	M	0.86178	2.8	0.45607	D	0.998548	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.998;0.922	D;D;D;D;B	0.81914	0.991;0.995;0.994;0.968;0.358	T	0.69650	-0.5088	10	0.72032	D	0.01	-12.3558	20.6593	0.99626	0.0:0.0:1.0:0.0	.	157;339;142;147;147	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	K	339;336;147;147;157;157;142;142;142	ENSP00000385048:E339K;ENSP00000385727:E336K;ENSP00000421739:E147K;ENSP00000384313:E147K;ENSP00000384099:E157K;ENSP00000261569:E142K;ENSP00000392478:E142K	ENSP00000261569:E142K	E	+	1	0	MAST4	66432112	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA		0.498	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MAST4	375449	broad.mit.edu	37	5	66445359	66445359	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66445359C>T	ENST00000403625.2	+	24	3532	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	MAST4_ENST00000405643.1_Silent_p.I900I|MAST4_ENST00000404260.3_Silent_p.I1082I|MAST4_ENST00000403666.1_Silent_p.I890I|MAST4_ENST00000261569.7_Silent_p.I885I	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1082	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.I1082I(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAAAGAAAATCTCGGGGAAAG	0.468																																					p.I890I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2670T	5						.						79.0	80.0	80.0					5																	66445359		1867	4118	5985	66481115	SO:0001819	synonymous_variant	375449	exon23			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3237C>T	5.37:g.66445359C>T			66481115	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	CCDS54861.1																																																																																				0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MAST4	375449	broad.mit.edu	37	5	66461057	66461057	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66461057C>A	ENST00000403625.2	+	29	6345	c.6050C>A	c.(6049-6051)tCt>tAt	p.S2017Y	MAST4_ENST00000405643.1_Missense_Mutation_p.S1838Y|MAST4_ENST00000404260.3_Missense_Mutation_p.S2020Y|MAST4_ENST00000403666.1_Missense_Mutation_p.S1828Y|MAST4_ENST00000261569.7_Missense_Mutation_p.S1823Y	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2020						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S2020Y(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATCTCCTCTCTGTGGGAAGG	0.552																																					p.S1828Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5483A	5						.						19.0	23.0	22.0					5																	66461057		1879	4126	6005	66496813	SO:0001583	missense	375449	exon28			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6050C>A	5.37:g.66461057C>A	ENSP00000385727:p.Ser2017Tyr		66496813	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781951	0.49891	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.69561	-0.39;-0.39;-0.41;-0.41;-0.38	4.89	4.03	0.46877	.	0.961889	0.08567	N	0.926656	T	0.53818	0.1820	L	0.29908	0.895	0.09310	N	1	P;P	0.46277	0.875;0.513	B;B	0.38327	0.271;0.181	T	0.45731	-0.9241	10	0.72032	D	0.01	-2.1659	9.0666	0.36467	0.0:0.9:0.0:0.1	.	2020;1828	O15021;O15021-3	MAST4_HUMAN;.	Y	2020;2017;1828;1838;1838;1823	ENSP00000385048:S2020Y;ENSP00000385727:S2017Y;ENSP00000384313:S1828Y;ENSP00000384099:S1838Y;ENSP00000261569:S1823Y	ENSP00000261569:S1823Y	S	+	2	0	MAST4	66496813	0.065000	0.20965	0.002000	0.10522	0.092000	0.18411	2.455000	0.44988	1.273000	0.44346	0.563000	0.77884	TCT		0.552	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
CD180	4064	broad.mit.edu	37	5	66478756	66478756	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66478756G>A	ENST00000256447.4	-	3	2072	c.1915C>T	c.(1915-1917)Cta>Tta	p.L639L	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	639					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L639L(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AACAATAATAGAAATACTATG	0.393																																					p.L639L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1915T	5						.						67.0	70.0	69.0					5																	66478756		2203	4300	6503	66514512	SO:0001819	synonymous_variant	4064	exon3			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1915C>T	5.37:g.66478756G>A			66514512	NM_005582	B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																				0.393	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
CD180	4064	broad.mit.edu	37	5	66479419	66479419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66479419C>A	ENST00000256447.4	-	3	1409	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	418					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E418*(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAGGACATTCTTTGAATGCC	0.463																																					p.E418X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1252T	5						.						162.0	166.0	165.0					5																	66479419		2203	4300	6503	66515175	SO:0001587	stop_gained	4064	exon3			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1252G>T	5.37:g.66479419C>A	ENSP00000256447:p.Glu418*		66515175	NM_005582	B2R7Z7|Q32MM5	Nonsense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352533	0.95830	.	.	ENSG00000134061	ENST00000256447	.	.	.	4.81	3.94	0.45596	.	0.170072	0.38897	N	0.001524	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	9.1378	0.36886	0.0:0.8301:0.0:0.1699	.	.	.	.	X	418	.	ENSP00000256447:E418X	E	-	1	0	CD180	66515175	0.130000	0.22417	0.473000	0.27253	0.917000	0.54804	2.478000	0.45189	1.224000	0.43551	0.563000	0.77884	GAA		0.463	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
CD180	4064	broad.mit.edu	37	5	66479672	66479672	+	Silent	SNP	G	G	A	rs371541622		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:66479672G>A	ENST00000256447.4	-	3	1156	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	333					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F333F(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		ACAATTGATCGAAATGATTTA	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		21860	0.0		0.0	False		,,,				2504	0.001				p.F333F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C999T	5						.	A		0,4406		0,0,2203	111.0	107.0	108.0		999	3.7	0.1	5		108	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	CD180	NM_005582.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		333/662	66479672	1,13005	2203	4300	6503	66515428	SO:0001819	synonymous_variant	4064	exon3			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.999C>T	5.37:g.66479672G>A			66515428	NM_005582	B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	CCDS3992.1																																																																																				0.448	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582	
PIK3R1	5295	broad.mit.edu	37	5	67589609	67589609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:67589609G>T	ENST00000521381.1	+	11	1988	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.E188*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.E158*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.E458*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.E95*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.E458*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.E458*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	458					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E458*(1)|p.0?(1)|p.?(1)|p.F456_R461>S(1)|p.F456_R461del(1)|p.Q457_R461del(1)|p.T454_D464del(1)|p.S460fs*5(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCAGTTTCAAGAAAAAAGTCG	0.284			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.E458X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	8	Deletion - In frame(3)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Unknown(1)|Whole gene deletion(1)|Complex - deletion inframe(1)	endometrium(5)|large_intestine(2)|lung(1)	c.G1372T	5						.						44.0	48.0	47.0					5																	67589609		2187	4267	6454	67625365	SO:0001587	stop_gained	5295	exon10			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1372G>T	5.37:g.67589609G>T	ENSP00000428056:p.Glu458*		67625365	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781465	0.97833	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-27.0866	19.0691	0.93125	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;458;158;95;188;131;95	.	ENSP00000274335:E458X	E	+	1	0	PIK3R1	67625365	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.285000	0.78660	2.822000	0.97130	0.650000	0.86243	GAA		0.284	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PIK3R1	5295	broad.mit.edu	37	5	67590466	67590466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:67590466G>T	ENST00000521381.1	+	12	2144	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.E240*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.E210*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.E510*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.E147*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.E510*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.E510*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	510					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E510*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAATACATAGAAAAGTTTAA	0.348			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.E510X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	3	Substitution - Nonsense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(2)|lung(1)	c.G1528T	5						.						71.0	72.0	72.0					5																	67590466		2203	4300	6503	67626222	SO:0001587	stop_gained	5295	exon11			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1528G>T	5.37:g.67590466G>T	ENSP00000428056:p.Glu510*		67626222	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	37	6.419378	0.97550	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000519025;ENST00000523872	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.7526	19.2559	0.93945	0.0:0.0:1.0:0.0	.	.	.	.	X	510;510;510;510;210;240;183;147	.	ENSP00000274335:E510X	E	+	1	0	PIK3R1	67626222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.861000	0.98227	0.650000	0.86243	GAA		0.348	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PIK3R1	5295	broad.mit.edu	37	5	67591270	67591270	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:67591270C>T	ENST00000521381.1	+	14	2384	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	PIK3R1_ENST00000336483.5_Missense_Mutation_p.R320W|PIK3R1_ENST00000320694.8_Missense_Mutation_p.R290W|PIK3R1_ENST00000396611.1_Missense_Mutation_p.R590W|PIK3R1_ENST00000523872.1_Missense_Mutation_p.R227W|PIK3R1_ENST00000274335.5_Missense_Mutation_p.R590W|PIK3R1_ENST00000521657.1_Missense_Mutation_p.R590W	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	590					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.R590W(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAAGGTGTTCGGCAAAAGAA	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.R590W			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	8	Complex - deletion inframe(4)|Substitution - Missense(1)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	large_intestine(5)|lung(1)|ovary(1)|central_nervous_system(1)	c.C1768T	5						.						151.0	153.0	152.0					5																	67591270		2203	4300	6503	67627026	SO:0001583	missense	5295	exon13			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1768C>T	5.37:g.67591270C>T	ENSP00000428056:p.Arg590Trp		67627026	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332935	0.81801	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;P;P;D	0.68483	0.957;0.883;0.883;0.958	T	0.66670	-0.5865	10	0.87932	D	0	-15.571	18.1606	0.89707	0.0:1.0:0.0:0.0	.	260;320;290;590	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	W	590;590;590;590;290;320;227	ENSP00000428056:R590W;ENSP00000429277:R590W;ENSP00000379855:R590W;ENSP00000274335:R590W;ENSP00000323512:R290W;ENSP00000338554:R320W;ENSP00000430098:R227W	ENSP00000274335:R590W	R	+	1	2	PIK3R1	67627026	0.989000	0.36119	0.998000	0.56505	0.979000	0.70002	2.855000	0.48333	2.515000	0.84797	0.460000	0.39030	CGG		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
SLC30A5	64924	broad.mit.edu	37	5	68396694	68396694	+	Silent	SNP	C	C	T	rs201023507		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:68396694C>T	ENST00000396591.3	+	2	754	c.144C>T	c.(142-144)ttC>ttT	p.F48F	SLC30A5_ENST00000380860.4_Silent_p.F48F|SLC30A5_ENST00000502979.1_Intron	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	48					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.F48F(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGGGACTTTTCGAATCATATG	0.299																																					p.F48F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C144T	5						.						72.0	72.0	72.0					5																	68396694		2203	4297	6500	68432450	SO:0001819	synonymous_variant	64924	exon2			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.144C>T	5.37:g.68396694C>T			68432450	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																				0.299	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
SLC30A5	64924	broad.mit.edu	37	5	68412342	68412342	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:68412342G>A	ENST00000396591.3	+	10	1804	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	398					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S398S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTCTCAATCGATCCCTAGGT	0.378																																					p.S398S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1194A	5						.						74.0	77.0	76.0					5																	68412342		2203	4300	6503	68448098	SO:0001819	synonymous_variant	64924	exon10			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1194G>A	5.37:g.68412342G>A			68448098	NM_022902	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	CCDS3996.1																																																																																				0.378	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2		
CENPH	64946	broad.mit.edu	37	5	68490517	68490517	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:68490517C>T	ENST00000283006.2	+	3	321	c.234C>T	c.(232-234)atC>atT	p.I78I	CENPH_ENST00000515001.1_Silent_p.I78I	NM_022909.3	NP_075060.1			centromere protein H									p.I78I(1)		kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAAGCAAATCGAAGCGTATG	0.279																																					p.D78D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T234T	5						.						41.0	45.0	44.0					5																	68490517		2201	4300	6501	68526273	SO:0001819	synonymous_variant	64946	exon3			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.234C>T	5.37:g.68490517C>T			68526273	NM_022909		Silent	SNP	ENST00000283006.2	37	CCDS3998.1	.	.	.	.	.	.	.	.	.	.	C	8.171	0.791732	0.16258	.	.	ENSG00000153044	ENST00000502689	.	.	.	5.01	-7.51	0.01346	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.9689	3.6032	0.08032	0.1223:0.436:0.125:0.3168	.	.	.	.	X	43	.	.	R	+	1	2	CENPH	68526273	0.967000	0.33354	0.804000	0.32291	0.830000	0.47004	-0.402000	0.07223	-1.435000	0.01972	-0.768000	0.03414	CGA		0.279	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215083.1		
CCDC125	202243	broad.mit.edu	37	5	68602685	68602685	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:68602685T>G	ENST00000396496.2	-	6	683	c.576A>C	c.(574-576)agA>agC	p.R192S	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.R67S|CCDC125_ENST00000396499.1_Missense_Mutation_p.R192S|CCDC125_ENST00000383374.2_Missense_Mutation_p.R191S			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	192						cytoplasm (GO:0005737)		p.R192S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATTTTTAAATCTATTATGAT	0.274																																					p.R192S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A576C	5						.						48.0	57.0	54.0					5																	68602685		2181	4261	6442	68638441	SO:0001583	missense	202243	exon5			AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.576A>C	5.37:g.68602685T>G	ENSP00000379754:p.Arg192Ser		68638441	NM_176816	Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687970	0.68271	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	5.82	0.92795	.	0.102256	0.64402	D	0.000002	T	0.68375	0.2994	M	0.76002	2.32	0.38166	D	0.939194	D;D	0.89917	0.999;1.0	D;D	0.85130	0.951;0.997	T	0.71961	-0.4434	10	0.42905	T	0.14	-2.0618	15.2084	0.73198	0.0:0.0:0.0:1.0	.	67;192	Q86Z20-2;Q86Z20	.;CC125_HUMAN	S	192;192;191;67	ENSP00000379754:R192S;ENSP00000379756:R192S;ENSP00000372865:R191S;ENSP00000426795:R67S	ENSP00000372865:R191S	R	-	3	2	CCDC125	68638441	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	3.482000	0.53186	2.231000	0.72958	0.529000	0.55759	AGA		0.274	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816	
RAD17	5884	broad.mit.edu	37	5	68710012	68710012	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:68710012C>A	ENST00000509734.1	+	18	2617	c.1939C>A	c.(1939-1941)Cag>Aag	p.Q647K	RAD17_ENST00000504177.1_3'UTR|MARVELD2_ENST00000325631.5_5'Flank|RAD17_ENST00000354312.3_Missense_Mutation_p.Q636K|RAD17_ENST00000345306.6_Missense_Mutation_p.Q636K|RAD17_ENST00000282891.6_Missense_Mutation_p.Q550K|RAD17_ENST00000361732.2_Missense_Mutation_p.Q636K|RAD17_ENST00000380774.3_Missense_Mutation_p.Q647K|RAD17_ENST00000521422.1_Missense_Mutation_p.Q471K|RAD17_ENST00000354868.5_Missense_Mutation_p.Q636K|RAD17_ENST00000305138.4_Missense_Mutation_p.Q636K|RAD17_ENST00000358030.2_Missense_Mutation_p.Q471K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	647	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q636K(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TCCTTTGAGTCAGAATAGTGC	0.507								Other conserved DNA damage response genes																													p.Q550K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1648A	5						.						98.0	100.0	99.0					5																	68710012		2203	4300	6503	68745768	SO:0001583	missense	5884	exon16			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1939C>A	5.37:g.68710012C>A	ENSP00000426191:p.Gln647Lys		68745768	NM_133341	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244300	0.22796	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.24538	2.17;2.16;2.17;1.85;2.17;2.17;2.17;1.88;1.85;2.16	5.25	4.38	0.52667	.	0.222820	0.46442	D	0.000293	T	0.25827	0.0629	M	0.68952	2.095	0.37075	D	0.898691	P;P;P	0.47910	0.842;0.822;0.902	B;B;B	0.41510	0.196;0.359;0.359	T	0.20840	-1.0263	10	0.37606	T	0.19	-13.3761	7.5601	0.27847	0.0:0.7443:0.1664:0.0894	.	647;550;636	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	636;647;636;471;636;636;636;550;471;647	ENSP00000355226:Q636K;ENSP00000426191:Q647K;ENSP00000346938:Q636K;ENSP00000427743:Q471K;ENSP00000346271:Q636K;ENSP00000311227:Q636K;ENSP00000303134:Q636K;ENSP00000282891:Q550K;ENSP00000350725:Q471K;ENSP00000370151:Q647K	ENSP00000282891:Q550K	Q	+	1	0	RAD17	68745768	1.000000	0.71417	0.781000	0.31783	0.001000	0.01503	3.089000	0.50183	1.206000	0.43276	-0.140000	0.14226	CAG		0.507	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344	
BDP1	55814	broad.mit.edu	37	5	70751776	70751776	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70751776T>G	ENST00000358731.4	+	1	335	c.72T>G	c.(70-72)gcT>gcG	p.A24A	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	24	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A24A(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GCTCCACAGCTTCCAATCCCC	0.682																																					p.A24A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T72G	5						.						16.0	19.0	18.0					5																	70751776		1956	4139	6095	70787532	SO:0001819	synonymous_variant	55814	exon1			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.72T>G	5.37:g.70751776T>G			70787532	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.682	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70754525	70754525	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70754525T>C	ENST00000358731.4	+	2	595	c.332T>C	c.(331-333)gTt>gCt	p.V111A	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	111	Interaction with ZBTB43.|Ser-rich.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V111A(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGTGTCAGTGTTCCTTCAGAA	0.418																																					p.V111A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T332C	5						.						145.0	140.0	141.0					5																	70754525		1924	4138	6062	70790281	SO:0001583	missense	55814	exon2			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.332T>C	5.37:g.70754525T>C	ENSP00000351575:p.Val111Ala		70790281	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313553	0.23908	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.18502	2.21	5.28	4.13	0.48395	.	0.331548	0.29431	N	0.012178	T	0.14227	0.0344	L	0.41824	1.3	0.80722	D	1	P;P;B	0.36144	0.539;0.537;0.347	B;B;B	0.42555	0.17;0.391;0.146	T	0.06445	-1.0826	10	0.06891	T	0.86	.	7.355	0.26714	0.0:0.102:0.0:0.898	.	111;111;111	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	A	111	ENSP00000351575:V111A	ENSP00000351575:V111A	V	+	2	0	BDP1	70790281	0.997000	0.39634	1.000000	0.80357	0.255000	0.26057	0.514000	0.22786	0.966000	0.38159	0.477000	0.44152	GTT		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70759924	70759924	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70759924G>A	ENST00000358731.4	+	4	902	c.639G>A	c.(637-639)tcG>tcA	p.S213S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	213	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S213S(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAAGCCATCGACTCCAGTCC	0.274																																					p.S213S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G639A	5						.						35.0	37.0	36.0					5																	70759924		1790	4067	5857	70795680	SO:0001819	synonymous_variant	55814	exon4			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.639G>A	5.37:g.70759924G>A			70795680	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	CCDS43328.1																																																																																				0.274	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70782334	70782334	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70782334G>A	ENST00000358731.4	+	9	1356	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	365	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D365N(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTTGACTTCGATTTTTTTGC	0.299																																					p.D365N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1093A	5						.						66.0	63.0	64.0					5																	70782334		1795	4064	5859	70818090	SO:0001583	missense	55814	exon9			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1093G>A	5.37:g.70782334G>A	ENSP00000351575:p.Asp365Asn		70818090	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224542	0.39300	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.03982	3.74	5.82	4.01	0.46588	.	0.234231	0.43919	D	0.000504	T	0.06142	0.0159	N	0.04746	-0.17	0.80722	D	1	P;D;P	0.89917	0.632;1.0;0.608	B;D;B	0.87578	0.147;0.998;0.163	T	0.52193	-0.8608	10	0.25106	T	0.35	.	7.6368	0.28272	0.1983:0.0:0.8017:0.0	.	365;365;365	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	365	ENSP00000351575:D365N	ENSP00000351575:D365N	D	+	1	0	BDP1	70818090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.914000	0.39966	2.747000	0.94245	0.591000	0.81541	GAT		0.299	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70786934	70786934	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70786934G>T	ENST00000358731.4	+	11	1879	c.1616G>T	c.(1615-1617)aGa>aTa	p.R539I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	539					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R539I(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAAAAGAACTGACCCC	0.408																																					p.R539I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1616T	5						.						147.0	137.0	141.0					5																	70786934		1890	4113	6003	70822690	SO:0001583	missense	55814	exon11			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1616G>T	5.37:g.70786934G>T	ENSP00000351575:p.Arg539Ile		70822690	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240488	0.79912	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.62105	0.05	5.19	-1.77	0.07982	.	1.097650	0.06762	N	0.782056	T	0.66228	0.2768	L	0.54323	1.7	0.19775	N	0.999956	B;D;B	0.69078	0.123;0.997;0.27	B;D;B	0.65010	0.038;0.931;0.061	T	0.54944	-0.8217	10	0.66056	D	0.02	.	0.2731	0.00234	0.2839:0.1364:0.27:0.3096	.	539;539;539	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	I	539;539;119;539	ENSP00000351575:R539I	ENSP00000351575:R539I	R	+	2	0	BDP1	70822690	0.001000	0.12720	0.071000	0.20095	0.711000	0.40976	-0.009000	0.12765	-0.210000	0.10140	-0.284000	0.09977	AGA		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
BDP1	55814	broad.mit.edu	37	5	70819908	70819908	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:70819908C>T	ENST00000358731.4	+	25	5793	c.5530C>T	c.(5530-5532)Cgt>Tgt	p.R1844C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1844					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1844C(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CACCAGAGGTCGTGGATCAAA	0.458																																					p.R1844C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5530T	5						.						81.0	82.0	82.0					5																	70819908		1909	4111	6020	70855664	SO:0001583	missense	55814	exon25			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5530C>T	5.37:g.70819908C>T	ENSP00000351575:p.Arg1844Cys		70855664	NM_018429	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989090	0.74589	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.35605	1.3	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000028	T	0.55970	0.1954	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.57219	-0.7849	10	0.87932	D	0	.	12.214	0.54396	0.17:0.83:0.0:0.0	.	1844;1844	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	C	1844;1424	ENSP00000351575:R1844C	ENSP00000351575:R1844C	R	+	1	0	BDP1	70855664	0.995000	0.38212	0.999000	0.59377	0.962000	0.63368	3.516000	0.53436	2.723000	0.93209	0.655000	0.94253	CGT		0.458	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
MAP1B	4131	broad.mit.edu	37	5	71491772	71491772	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:71491772G>A	ENST00000296755.7	+	5	2888	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	864					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E864K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCGAAGACGAAGAGAAACT	0.493																																					p.E864K	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2590A	5						.						126.0	124.0	125.0					5																	71491772		2203	4300	6503	71527528	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2590G>A	5.37:g.71491772G>A	ENSP00000296755:p.Glu864Lys		71527528	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880021	0.51801	.	.	ENSG00000131711	ENST00000296755	T	0.03413	3.94	5.34	5.34	0.76211	.	0.192509	0.36167	N	0.002748	T	0.02970	0.0088	N	0.22421	0.69	0.50467	D	0.999875	P;B	0.36483	0.555;0.256	B;B	0.21546	0.035;0.035	T	0.61028	-0.7145	10	0.17369	T	0.5	-10.0824	19.0329	0.92965	0.0:0.0:1.0:0.0	.	738;864	A2BDK6;P46821	.;MAP1B_HUMAN	K	864	ENSP00000296755:E864K	ENSP00000296755:E864K	E	+	1	0	MAP1B	71527528	1.000000	0.71417	0.618000	0.29105	0.013000	0.08279	6.365000	0.73090	2.490000	0.84030	0.591000	0.81541	GAA		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71492446	71492446	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:71492446G>T	ENST00000296755.7	+	5	3562	c.3264G>T	c.(3262-3264)gaG>gaT	p.E1088D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1088					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E1088D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTCATGATGAGACTTTACCTG	0.547																																					p.E1088D	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3264T	5						.						54.0	57.0	56.0					5																	71492446		2203	4300	6503	71528202	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3264G>T	5.37:g.71492446G>T	ENSP00000296755:p.Glu1088Asp		71528202	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218769	0.39201	.	.	ENSG00000131711	ENST00000296755	T	0.12672	2.66	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.09335	0.0230	L	0.27053	0.805	0.43793	D	0.996339	B;B	0.32071	0.355;0.355	B;B	0.28638	0.092;0.092	T	0.24835	-1.0149	10	0.28530	T	0.3	-25.8578	10.1889	0.43015	0.1477:0.0:0.8523:0.0	.	962;1088	A2BDK6;P46821	.;MAP1B_HUMAN	D	1088	ENSP00000296755:E1088D	ENSP00000296755:E1088D	E	+	3	2	MAP1B	71528202	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.550000	0.36223	2.666000	0.90696	0.655000	0.94253	GAG		0.547	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71495025	71495025	+	Missense_Mutation	SNP	G	G	A	rs139240427	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:71495025G>A	ENST00000296755.7	+	5	6141	c.5843G>A	c.(5842-5844)cGg>cAg	p.R1948Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1948					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1948Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACACGGACCCCTGAA	0.473													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18446	0.0		0.0	False		,,,				2504	0.0				p.R1948Q	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5843A	5						.	G	GLN/ARG	0,4406		0,0,2203	60.0	64.0	62.0		5843	4.2	1.0	5	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MAP1B	NM_005909.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1948/2469	71495025	1,13005	2203	4300	6503	71530781	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5843G>A	5.37:g.71495025G>A	ENSP00000296755:p.Arg1948Gln		71530781	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586879	0.28268	0.0	1.16E-4	ENSG00000131711	ENST00000296755	T	0.03124	4.04	5.11	4.25	0.50352	.	0.000000	0.56097	D	0.000035	T	0.03959	0.0111	N	0.08118	0	0.32613	N	0.524414	D;B	0.76494	0.999;0.052	P;B	0.56751	0.805;0.003	T	0.42732	-0.9434	10	0.35671	T	0.21	-9.0693	6.0492	0.19777	0.1609:0.0:0.6869:0.1522	.	1822;1948	A2BDK6;P46821	.;MAP1B_HUMAN	Q	1948	ENSP00000296755:R1948Q	ENSP00000296755:R1948Q	R	+	2	0	MAP1B	71530781	0.004000	0.15560	0.997000	0.53966	0.997000	0.91878	0.120000	0.15647	1.162000	0.42619	0.551000	0.68910	CGG		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71495320	71495320	+	Missense_Mutation	SNP	G	G	T	rs115914542	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:71495320G>T	ENST00000296755.7	+	5	6436	c.6138G>T	c.(6136-6138)gaG>gaT	p.E2046D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2046					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E2046D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACTGCAGAGAAAATCACTA	0.458																																					p.E2046D	Melanoma(17;367 822 11631 31730 47712)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6138T	5						.						117.0	129.0	125.0					5																	71495320		2203	4300	6503	71531076	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6138G>T	5.37:g.71495320G>T	ENSP00000296755:p.Glu2046Asp		71531076	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.261966	0.23051	.	.	ENSG00000131711	ENST00000296755	T	0.03580	3.88	5.68	3.89	0.44902	.	0.000000	0.64402	D	0.000003	T	0.02380	0.0073	N	0.08118	0	0.38398	D	0.945586	B;B	0.15141	0.012;0.012	B;B	0.16722	0.016;0.016	T	0.52155	-0.8613	10	0.37606	T	0.19	-17.3826	10.4734	0.44650	0.0689:0.0:0.7961:0.1349	.	1920;2046	A2BDK6;P46821	.;MAP1B_HUMAN	D	2046	ENSP00000296755:E2046D	ENSP00000296755:E2046D	E	+	3	2	MAP1B	71531076	1.000000	0.71417	0.926000	0.36857	0.841000	0.47740	1.325000	0.33724	1.399000	0.46721	0.655000	0.94253	GAG		0.458	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
FCHO2	115548	broad.mit.edu	37	5	72264391	72264391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:72264391G>T	ENST00000430046.2	+	2	216	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	FCHO2_ENST00000512348.1_Nonsense_Mutation_p.E34*|FCHO2_ENST00000287761.6_Nonsense_Mutation_p.E34*|FCHO2_ENST00000341845.6_Nonsense_Mutation_p.E34*	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	34	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.E34*(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		ATCAACAAAAGAACTAGCAGA	0.249																																					p.E34X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G100T	5						.						20.0	20.0	20.0					5																	72264391		1789	4034	5823	72300147	SO:0001587	stop_gained	115548	exon2			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.100G>T	5.37:g.72264391G>T	ENSP00000393776:p.Glu34*		72300147	NM_001146032	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Nonsense_Mutation	SNP	ENST00000430046.2	37	CCDS47230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.334944|5.334944	0.95758|0.95758	.|.	.|.	ENSG00000157107|ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761|ENST00000507345	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75845	.|0.3905	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76716	.|-0.2857	.|4	0.66056|0.48119	D|T	0.02|0.1	-19.875|-19.875	18.1947|18.1947	0.89817|0.89817	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	34|28	.|.	ENSP00000287761:E34X|ENSP00000426842:K28N	E|K	+|+	1|3	0|2	FCHO2|FCHO2	72300147|72300147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.247000|9.247000	0.95444|0.95444	2.378000|2.378000	0.81104|0.81104	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.249	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
ANKRA2	57763	broad.mit.edu	37	5	72858531	72858531	+	Missense_Mutation	SNP	C	C	T	rs200934847		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:72858531C>T	ENST00000296785.3	-	2	834	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	59						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)	p.R59Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CATATCAAATCGGTTAGGCAA	0.403																																					p.R59Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	5						.						221.0	212.0	215.0					5																	72858531		2203	4300	6503	72894287	SO:0001583	missense	57763	exon2			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.176G>A	5.37:g.72858531C>T	ENSP00000296785:p.Arg59Gln		72894287	NM_023039		Missense_Mutation	SNP	ENST00000296785.3	37	CCDS4020.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369637	0.95900	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.57752	0.5;0.38	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.76494	0.999;0.994	D;P	0.80764	0.994;0.885	T	0.63355	-0.6656	10	0.35671	T	0.21	-9.7533	18.7735	0.91901	0.0:1.0:0.0:0.0	.	59;59	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	Q	59	ENSP00000296785:R59Q;ENSP00000422643:R59Q	ENSP00000296785:R59Q	R	-	2	0	ANKRA2	72894287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.711000	0.68400	2.426000	0.82243	0.655000	0.94253	CGA		0.403	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219814.2	NM_023039	
ARHGEF28	64283	broad.mit.edu	37	5	73128269	73128269	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:73128269T>C	ENST00000426542.2	+	9	1151	c.1131T>C	c.(1129-1131)tgT>tgC	p.C377C	ARHGEF28_ENST00000296799.4_Silent_p.C64C|ARHGEF28_ENST00000287898.5_Silent_p.C377C|ARHGEF28_ENST00000513042.2_Silent_p.C377C|ARHGEF28_ENST00000545377.1_Silent_p.C377C|ARHGEF28_ENST00000296794.6_Silent_p.C377C|ARHGEF28_ENST00000437974.1_Silent_p.C377C			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	377					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.C377C(1)									ACGCTAACTGTATGGTGATTG	0.448																																					p.C377C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1131C	5						.						73.0	67.0	69.0					5																	73128269		1985	4157	6142	73164025	SO:0001819	synonymous_variant	64283	exon10				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1131T>C	5.37:g.73128269T>C			73164025	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	CCDS54870.1																																																																																				0.448	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
ARHGEF28	64283	broad.mit.edu	37	5	73189070	73189070	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:73189070G>T	ENST00000426542.2	+	27	3635	c.3615G>T	c.(3613-3615)aaG>aaT	p.K1205N	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.K892N|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.K1205N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.K1205N|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.K1205N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.K1205N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.K1205N|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.K169N			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1205					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.K169N(1)									ATGAAGACAAGAGGAAAGCTG	0.458																																					p.K1205N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3615T	5						.						78.0	75.0	76.0					5																	73189070		1948	4125	6073	73224826	SO:0001583	missense	64283	exon28				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3615G>T	5.37:g.73189070G>T	ENSP00000412175:p.Lys1205Asn		73224826	NM_001177693	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666865	0.67814	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.33865	2.9;2.91;2.9;2.66;2.91;2.9;2.73;1.39	4.87	1.56	0.23342	.	.	.	.	.	T	0.38878	0.1057	M	0.62723	1.935	0.20703	N	0.999869	P;P;P;P;P	0.49307	0.922;0.871;0.73;0.835;0.723	P;P;P;P;B	0.47786	0.556;0.548;0.467;0.557;0.444	T	0.25012	-1.0144	9	0.87932	D	0	.	5.4355	0.16478	0.6043:0.0:0.3957:0.0	.	892;1205;1205;169;1205	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	N	1205;1205;1205;1205;1205;1205;892;169	ENSP00000296794:K1205N;ENSP00000441913:K1205N;ENSP00000441436:K1205N;ENSP00000287898:K1205N;ENSP00000411459:K1205N;ENSP00000412175:K1205N;ENSP00000296799:K892N;ENSP00000421081:K169N	ENSP00000287898:K1205N	K	+	3	2	RP11-428C6.1	73224826	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	1.020000	0.30027	0.587000	0.29643	0.655000	0.94253	AAG		0.458	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
HEXB	3074	broad.mit.edu	37	5	73981317	73981317	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:73981317T>G	ENST00000261416.7	+	1	349	c.232T>G	c.(232-234)Tac>Gac	p.Y78D	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	78					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y78D(1)		endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAGAACTTCTACATCAGCCA	0.697																																					p.Y78D	Melanoma(66;841 1270 13391 18706 27225)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T232G	5						.						22.0	27.0	26.0					5																	73981317		2202	4300	6502	74017073	SO:0001583	missense	3074	exon1			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.232T>G	5.37:g.73981317T>G	ENSP00000261416:p.Tyr78Asp		74017073	NM_000521		Missense_Mutation	SNP	ENST00000261416.7	37	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809531	0.50421	.	.	ENSG00000049860	ENST00000261416	D	0.87571	-2.27	4.86	-2.71	0.05986	Acetylhexosaminidase, subunit a/b (1);	2.611440	0.00953	N	0.002994	T	0.68274	0.2983	N	0.03608	-0.345	0.40834	D	0.983617	B	0.02656	0.0	B	0.04013	0.001	T	0.58662	-0.7597	10	0.25106	T	0.35	1.5558	1.8636	0.03194	0.1268:0.2873:0.3492:0.2367	.	78	P07686	HEXB_HUMAN	D	78	ENSP00000261416:Y78D	ENSP00000261416:Y78D	Y	+	1	0	HEXB	74017073	0.001000	0.12720	0.006000	0.13384	0.817000	0.46193	-0.693000	0.05121	-0.391000	0.07763	0.459000	0.35465	TAC		0.697	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	NM_000521	
GFM2	84340	broad.mit.edu	37	5	74021496	74021496	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74021496A>C	ENST00000296805.3	-	19	2454	c.1997T>G	c.(1996-1998)aTt>aGt	p.I666S	GFM2_ENST00000515125.1_Intron|RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000509430.1_Missense_Mutation_p.I666S|GFM2_ENST00000345239.2_Missense_Mutation_p.I619S	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.I666S(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACAGGCAGAAATCATAGTTGT	0.423																																					p.I666S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1997G	5						.						123.0	111.0	115.0					5																	74021496		2203	4300	6503	74057252	SO:0001583	missense	84340	exon19			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1997T>G	5.37:g.74021496A>C	ENSP00000296805:p.Ile666Ser		74057252	NM_032380		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845567	0.91197	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.48522	0.81;0.81;0.81	5.8	5.8	0.92144	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.169368	0.53938	D	0.000060	T	0.58424	0.2121	L	0.52573	1.65	0.80722	D	1	P;P;P	0.46064	0.845;0.73;0.872	P;B;P	0.54100	0.625;0.334;0.742	T	0.61013	-0.7148	10	0.87932	D	0	-14.8207	16.1606	0.81704	1.0:0.0:0.0:0.0	.	664;619;666	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	S	666;619;666	ENSP00000296805:I666S;ENSP00000296804:I619S;ENSP00000427004:I666S	ENSP00000296805:I666S	I	-	2	0	GFM2	74057252	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.199000	0.89731	2.227000	0.72691	0.460000	0.39030	ATT		0.423	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
GFM2	84340	broad.mit.edu	37	5	74026188	74026188	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74026188C>A	ENST00000296805.3	-	17	2080	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	GFM2_ENST00000515125.1_Intron|GFM2_ENST00000509430.1_Missense_Mutation_p.E541D|GFM2_ENST00000345239.2_Missense_Mutation_p.E494D	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2									p.E541D(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CATGAATAATCTCTATATGTA	0.403																																					p.E541D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1623T	5						.						111.0	104.0	106.0					5																	74026188		2203	4300	6503	74061944	SO:0001583	missense	84340	exon17			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1623G>T	5.37:g.74026188C>A	ENSP00000296805:p.Glu541Asp		74061944	NM_032380		Missense_Mutation	SNP	ENST00000296805.3	37	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402963	0.42613	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.73789	-0.78;-0.78;-0.78	5.64	1.72	0.24424	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.31476	0.935	0.80722	D	1	B;B;B	0.23806	0.091;0.034;0.055	B;B;B	0.28991	0.097;0.034;0.045	T	0.32719	-0.9896	10	0.19590	T	0.45	-17.5606	6.2476	0.20827	0.1177:0.6064:0.0:0.276	.	541;494;541	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	D	541;494;541	ENSP00000296805:E541D;ENSP00000296804:E494D;ENSP00000427004:E541D	ENSP00000296805:E541D	E	-	3	2	GFM2	74061944	0.993000	0.37304	0.998000	0.56505	0.967000	0.64934	0.429000	0.21412	0.026000	0.15269	-0.378000	0.06908	GAG		0.403	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	
FAM169A	26049	broad.mit.edu	37	5	74137446	74137446	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74137446G>A	ENST00000389156.4	-	2	146	c.56C>T	c.(55-57)tCt>tTt	p.S19F	FAM169A_ENST00000380515.3_Missense_Mutation_p.S19F|FAM169A_ENST00000510496.1_Missense_Mutation_p.S19F	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	19						membrane (GO:0016020)|nucleus (GO:0005634)		p.S19F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTTCAGCAGAATTTTCCAA	0.393																																					p.S19F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56T	5						.						105.0	96.0	99.0					5																	74137446		1843	4097	5940	74173202	SO:0001583	missense	26049	exon2				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.56C>T	5.37:g.74137446G>A	ENSP00000373808:p.Ser19Phe		74173202	NM_015566	A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544593	0.86022	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.61	4.7	0.59300	.	0.416994	0.22458	N	0.059796	T	0.51210	0.1661	L	0.50333	1.59	0.53688	D	0.999977	D;D	0.55385	0.971;0.971	P;P	0.59948	0.855;0.866	T	0.52177	-0.8610	10	0.72032	D	0.01	-11.3255	15.8823	0.79213	0.0:0.0:0.864:0.136	.	19;19	D6RB01;Q9Y6X4	.;F169A_HUMAN	F	19	ENSP00000373808:S19F;ENSP00000424578:S19F;ENSP00000369886:S19F;ENSP00000423631:S19F;ENSP00000423883:S19F;ENSP00000421451:S19F	ENSP00000369886:S19F	S	-	2	0	FAM169A	74173202	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	6.017000	0.70805	2.635000	0.89317	0.585000	0.79938	TCT		0.393	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		
GCNT4	51301	broad.mit.edu	37	5	74325367	74325367	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74325367G>A	ENST00000322348.4	-	1	1357	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	166					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R166C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GGTGCCTTACGATCATAATGG	0.378																																					p.R166C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	5						.						153.0	148.0	149.0					5																	74325367		2203	4300	6503	74361123	SO:0001583	missense	51301	exon1			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.496C>T	5.37:g.74325367G>A	ENSP00000317027:p.Arg166Cys		74361123	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	18.26	3.585464	0.66105	.	.	ENSG00000176928	ENST00000322348	T	0.12039	2.72	6.17	5.31	0.75309	.	0.565448	0.20533	N	0.090470	T	0.22166	0.0534	L	0.43923	1.385	0.39134	D	0.961906	D	0.56746	0.977	P	0.51055	0.657	T	0.01914	-1.1248	10	0.66056	D	0.02	-16.1396	15.7563	0.78030	0.065:0.0:0.935:0.0	.	166	Q9P109	GCNT4_HUMAN	C	166	ENSP00000317027:R166C	ENSP00000317027:R166C	R	-	1	0	GCNT4	74361123	1.000000	0.71417	0.895000	0.35142	0.931000	0.56810	4.719000	0.61937	1.626000	0.50381	0.655000	0.94253	CGT		0.378	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
GCNT4	51301	broad.mit.edu	37	5	74325802	74325802	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74325802A>C	ENST00000322348.4	-	1	922	c.61T>G	c.(61-63)Tta>Gta	p.L21V		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	21					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.L21V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CATAGGGTTAAAAACAGGATG	0.358																																					p.L21V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T61G	5						.						115.0	134.0	128.0					5																	74325802		2186	4243	6429	74361558	SO:0001583	missense	51301	exon1			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.61T>G	5.37:g.74325802A>C	ENSP00000317027:p.Leu21Val		74361558	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381576	0.24944	.	.	ENSG00000176928	ENST00000322348	T	0.10668	2.85	5.95	0.916	0.19373	.	0.374947	0.24145	N	0.041126	T	0.04952	0.0133	N	0.17082	0.46	0.27162	N	0.961137	B	0.16603	0.018	B	0.09377	0.004	T	0.42085	-0.9472	10	0.15952	T	0.53	-5.2213	5.3899	0.16237	0.4365:0.262:0.3016:0.0	.	21	Q9P109	GCNT4_HUMAN	V	21	ENSP00000317027:L21V	ENSP00000317027:L21V	L	-	1	2	GCNT4	74361558	0.998000	0.40836	0.989000	0.46669	0.998000	0.95712	0.777000	0.26718	-0.063000	0.13065	0.533000	0.62120	TTA		0.358	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
HMGCR	3156	broad.mit.edu	37	5	74655871	74655871	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74655871G>A	ENST00000287936.4	+	19	2675	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	HMGCR_ENST00000343975.5_Missense_Mutation_p.R787Q|HMGCR_ENST00000511206.1_Missense_Mutation_p.R840Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	840	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.R840Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAGCTTGCCCGAATTGTGTGT	0.483																																					p.R840Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2519A	5						.						134.0	128.0	130.0					5																	74655871		2203	4300	6503	74691627	SO:0001583	missense	3156	exon19				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2519G>A	5.37:g.74655871G>A	ENSP00000287936:p.Arg840Gln		74691627	NM_000859	B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	CCDS4027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.635189|2.635189	0.47049|0.47049	.|.	.|.	ENSG00000113161|ENSG00000113161	ENST00000509085|ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286;ENST00000511986	.|T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88	5.7|5.7	4.72|4.72	0.59763|0.59763	.|Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	.|0.215574	.|0.47455	.|D	.|0.000224	T|T	0.31231|0.31231	0.0790|0.0790	L|L	0.58101|0.58101	1.795|1.795	0.37332|0.37332	D|D	0.910009|0.910009	.|B;P;P;B;B	.|0.36010	.|0.152;0.514;0.532;0.074;0.152	.|B;B;B;B;B	.|0.30105	.|0.066;0.111;0.046;0.015;0.045	T|T	0.40117|0.40117	-0.9580|-0.9580	5|10	.|0.45353	.|T	.|0.12	-6.7176|-6.7176	3.7195|3.7195	0.08450|0.08450	0.3358:0.0:0.6642:0.0|0.3358:0.0:0.6642:0.0	.|.	.|840;771;217;787;840	.|B2R649;B7Z3Y9;B4DSB1;P04035-2;P04035	.|.;.;.;.;HMDH_HUMAN	K|Q	117|840;771;840;787;217;67	.|ENSP00000426745:R840Q;ENSP00000287936:R840Q;ENSP00000340816:R787Q;ENSP00000420871:R67Q	.|ENSP00000287936:R840Q	E|R	+|+	1|2	0|0	HMGCR|HMGCR	74691627|74691627	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.824000|0.824000	0.46624|0.46624	4.317000|4.317000	0.59184|0.59184	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.483	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2		
POLK	51426	broad.mit.edu	37	5	74892363	74892363	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:74892363T>C	ENST00000241436.4	+	13	2017	c.1845T>C	c.(1843-1845)aaT>aaC	p.N615N	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Silent_p.N417N|POLK_ENST00000508526.1_Silent_p.N417N|POLK_ENST00000380481.3_Silent_p.N525N|POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	615					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.N615N(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TATCAGAGAATTCAGATGACT	0.373								DNA polymerases (catalytic subunits)																													p.N615N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1845C	5						.						111.0	114.0	113.0					5																	74892363		2203	4300	6503	74928119	SO:0001819	synonymous_variant	51426	exon13			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1845T>C	5.37:g.74892363T>C			74928119	NM_016218	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	CCDS4030.1																																																																																				0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	
SV2C	22987	broad.mit.edu	37	5	75428097	75428097	+	Silent	SNP	C	C	T	rs370011561	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:75428097C>T	ENST00000502798.2	+	2	964	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SV2C_ENST00000322285.7_Silent_p.F174F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	174					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F174F(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)		TCGTTGGCTTCGTGTTACCCA	0.517													C|||	3	0.000599042	0.0015	0.0	5008	,	,		16619	0.0		0.001	False		,,,				2504	0.0				p.F174F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522T	5						.	C		3,4115		0,3,2056	182.0	170.0	174.0		522	-1.7	1.0	5		174	0,8422		0,0,4211	no	coding-synonymous	SV2C	NM_014979.1		0,3,6267	TT,TC,CC		0.0,0.0729,0.0239		174/728	75428097	3,12537	2059	4211	6270	75463853	SO:0001819	synonymous_variant	22987	exon2			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.522C>T	5.37:g.75428097C>T			75463853	NM_014979	Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	CCDS43331.1																																																																																				0.517	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
IQGAP2	10788	broad.mit.edu	37	5	75757450	75757450	+	Missense_Mutation	SNP	G	G	T	rs373606679		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:75757450G>T	ENST00000274364.6	+	2	399	c.102G>T	c.(100-102)caG>caT	p.Q34H	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	34					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.Q34H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAGGCGGCAGAACATTGCTT	0.428																																					p.Q34H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G102T	5						.						147.0	121.0	130.0					5																	75757450		2203	4300	6503	75793206	SO:0001583	missense	10788	exon2			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.102G>T	5.37:g.75757450G>T	ENSP00000274364:p.Gln34His		75793206	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342392	0.81911	.	.	ENSG00000145703	ENST00000274364;ENST00000514350	T;T	0.42900	0.96;0.96	4.05	4.05	0.47172	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.50372	-0.8836	10	0.44086	T	0.13	-13.8813	15.5184	0.75842	0.0:0.0:1.0:0.0	.	34	Q13576	IQGA2_HUMAN	H	34;7	ENSP00000274364:Q34H;ENSP00000423672:Q7H	ENSP00000274364:Q34H	Q	+	3	2	IQGAP2	75793206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.821000	0.48065	2.267000	0.75376	0.491000	0.48974	CAG		0.428	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
IQGAP2	10788	broad.mit.edu	37	5	75964614	75964614	+	Nonsense_Mutation	SNP	C	C	T	rs377130667		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:75964614C>T	ENST00000274364.6	+	23	3085	c.2788C>T	c.(2788-2790)Cga>Tga	p.R930*	IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.R426*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.R426*|IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.R432*	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	930	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R930*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTCTAATCAGCGAGAAGAATA	0.318																																					p.R930X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2788T	5						.	C	stop/ARG	0,4406		0,0,2203	63.0	63.0	63.0		2788	4.6	1.0	5		63	1,8589		0,1,4294	no	stop-gained	IQGAP2	NM_006633.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		930/1576	75964614	1,12995	2203	4295	6498	76000370	SO:0001587	stop_gained	10788	exon23			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2788C>T	5.37:g.75964614C>T	ENSP00000274364:p.Arg930*		76000370	NM_006633	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	40	8.334068	0.98764	0.0	1.16E-4	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	.	.	.	5.5	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.494	15.2221	0.73320	0.146:0.854:0.0:0.0	.	.	.	.	X	930;432;880;483;426;426	.	ENSP00000274364:R930X	R	+	1	2	IQGAP2	76000370	0.996000	0.38824	0.969000	0.41365	0.994000	0.84299	2.103000	0.41806	1.250000	0.43966	0.591000	0.81541	CGA		0.318	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
F2RL1	2150	broad.mit.edu	37	5	76129241	76129241	+	Missense_Mutation	SNP	G	G	A	rs2243062	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:76129241G>A	ENST00000296677.4	+	2	1015	c.809G>A	c.(808-810)cGa>cAa	p.R270Q		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	270			R -> Q (in dbSNP:rs2243062). {ECO:0000269|Ref.4}.		blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R270Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGAATGCTGCGATCTTCTGCC	0.488													G|||	60	0.0119808	0.0431	0.0043	5008	,	,		22489	0.0		0.0	False		,,,				2504	0.0				p.R270Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	5						.	G	GLN/ARG	181,4225	119.6+/-157.3	6,169,2028	147.0	141.0	143.0		809	-0.9	0.0	5	dbSNP_98	143	4,8596	3.7+/-12.6	1,2,4297	yes	missense	F2RL1	NM_005242.4	43	7,171,6325	AA,AG,GG		0.0465,4.108,1.4224	benign	270/398	76129241	185,12821	2203	4300	6503	76164997	SO:0001583	missense	2150	exon2			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.809G>A	5.37:g.76129241G>A	ENSP00000296677:p.Arg270Gln		76164997	NM_005242	Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	CCDS4033.1	14	0.00641025641025641	12	0.024390243902439025	2	0.0055248618784530384	0	0.0	0	0.0	G	1.108	-0.659185	0.03454	0.04108	4.65E-4	ENSG00000164251	ENST00000296677	T	0.42131	0.98	5.44	-0.913	0.10500	GPCR, rhodopsin-like superfamily (1);	0.912432	0.09444	N	0.801390	T	0.05914	0.0154	N	0.25144	0.715	0.09310	N	1	B	0.27117	0.168	B	0.20767	0.031	T	0.13176	-1.0519	9	.	.	.	-1.996	7.2765	0.26288	0.5656:0.1201:0.3142:0.0	rs2243062;rs16873832;rs52817305;rs2243062	270	P55085	PAR2_HUMAN	Q	270	ENSP00000296677:R270Q	.	R	+	2	0	F2RL1	76164997	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.344000	0.19962	-0.070000	0.12908	-0.126000	0.14955	CGA		0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2		
AGGF1	55109	broad.mit.edu	37	5	76331554	76331554	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:76331554G>A	ENST00000312916.7	+	3	884	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	AGGF1_ENST00000506806.1_Missense_Mutation_p.A168T|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	168					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.A168T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GGACCATTTTGCCTCAAATTC	0.338																																					p.A168T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	5						.						73.0	73.0	73.0					5																	76331554		2203	4299	6502	76367310	SO:0001583	missense	55109	exon3			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.502G>A	5.37:g.76331554G>A	ENSP00000316109:p.Ala168Thr		76367310	NM_018046	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939321	0.18281	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.75938	1.2;-0.98	5.96	-0.0725	0.13739	.	1.066110	0.07162	N	0.850964	T	0.33760	0.0874	N	0.00436	-1.5	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.08055	0.001;0.003	T	0.25012	-1.0144	10	0.15952	T	0.53	-33.777	1.1854	0.01854	0.4854:0.179:0.1767:0.1589	.	168;168	Q8N302;Q8N302-3	AGGF1_HUMAN;.	T	168	ENSP00000316109:A168T;ENSP00000424733:A168T	ENSP00000316109:A168T	A	+	1	0	AGGF1	76367310	0.000000	0.05858	0.044000	0.18714	0.960000	0.62799	0.143000	0.16115	0.055000	0.16094	0.650000	0.86243	GCC		0.338	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
PDE8B	8622	broad.mit.edu	37	5	76624826	76624826	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:76624826G>A	ENST00000264917.5	+	4	639	c.594G>A	c.(592-594)tcG>tcA	p.S198S	PDE8B_ENST00000342343.4_Silent_p.S178S|PDE8B_ENST00000333194.4_Silent_p.S198S|PDE8B_ENST00000346042.3_Silent_p.S198S|PDE8B_ENST00000340978.3_Silent_p.S198S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	198					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S198S(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ATTGCAGGTCGATCCGGGCCA	0.473																																					p.S198S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G594A	5						.						122.0	90.0	101.0					5																	76624826		2203	4300	6503	76660582	SO:0001819	synonymous_variant	8622	exon4			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.594G>A	5.37:g.76624826G>A			76660582	NM_003719	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	CCDS4037.1																																																																																				0.473	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719	
WDR41	55255	broad.mit.edu	37	5	76734154	76734154	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:76734154G>A	ENST00000296679.4	-	10	1290	c.915C>T	c.(913-915)taC>taT	p.Y305Y	WDR41_ENST00000414719.2_Silent_p.Y51Y|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000507029.1_Silent_p.Y250Y	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	305						lysosomal membrane (GO:0005765)		p.Y305Y(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GGCTATACACGTATAAACCCC	0.453																																					p.Y305Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	5						.						143.0	126.0	132.0					5																	76734154		2203	4300	6503	76769910	SO:0001819	synonymous_variant	55255	exon10			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.915C>T	5.37:g.76734154G>A			76769910	NM_018268	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Silent	SNP	ENST00000296679.4	37	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	G	9.936	1.216116	0.22373	.	.	ENSG00000164253	ENST00000511630	.	.	.	5.75	-7.8	0.01214	.	.	.	.	.	T	0.72382	0.3453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75004	-0.3470	4	.	.	.	-13.2046	21.2754	0.99950	0.1842:0.0:0.8158:0.0	.	.	.	.	M	131	.	.	T	-	2	0	WDR41	76769910	0.318000	0.24598	0.794000	0.32065	0.993000	0.82548	-0.524000	0.06222	-1.345000	0.02214	-0.312000	0.09012	ACG		0.453	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268	
OTP	23440	broad.mit.edu	37	5	76932775	76932775	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:76932775G>A	ENST00000306422.3	-	2	1456	c.318C>T	c.(316-318)cgC>cgT	p.R106R	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	106					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R106R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GCGTCCGGTGGCGCTTCTGCT	0.667																																					p.R106R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	5						.						91.0	96.0	95.0					5																	76932775		2203	4300	6503	76968531	SO:0001819	synonymous_variant	23440	exon2				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.318C>T	5.37:g.76932775G>A			76968531	NM_032109		Silent	SNP	ENST00000306422.3	37	CCDS4039.1																																																																																				0.667	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2		
AP3B1	8546	broad.mit.edu	37	5	77511899	77511899	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:77511899A>G	ENST00000255194.6	-	7	941	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	AP3B1_ENST00000519295.1_Missense_Mutation_p.F207L	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	256					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.F256L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGCTGACAAACTGTGTCCGA	0.398									Hermansky-Pudlak syndrome																												p.F256L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T766C	5						.						122.0	117.0	119.0					5																	77511899		2203	4300	6503	77547655	SO:0001583	missense	8546	exon7	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.766T>C	5.37:g.77511899A>G	ENSP00000255194:p.Phe256Leu		77547655	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.021940	0.93462	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.24538	1.85;1.85	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	T	0.47849	-0.9085	10	0.87932	D	0	-11.1959	15.6919	0.77461	1.0:0.0:0.0:0.0	.	256	O00203	AP3B1_HUMAN	L	256;207;256;160	ENSP00000255194:F256L;ENSP00000430597:F207L	ENSP00000255194:F256L	F	-	1	0	AP3B1	77547655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.284000	0.95882	2.112000	0.64535	0.533000	0.62120	TTT		0.398	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
AP3B1	8546	broad.mit.edu	37	5	77523208	77523208	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:77523208T>G	ENST00000255194.6	-	5	699	c.524A>C	c.(523-525)cAa>cCa	p.Q175P	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q126P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	175					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.Q175P(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GTATAATTTTTGTATTGCATG	0.358									Hermansky-Pudlak syndrome																												p.Q175P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A524C	5						.						127.0	119.0	122.0					5																	77523208		2203	4300	6503	77558964	SO:0001583	missense	8546	exon5	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.524A>C	5.37:g.77523208T>G	ENSP00000255194:p.Gln175Pro		77558964	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	1.843	-0.466968	0.04476	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.23552	1.9;1.9	5.06	5.06	0.68205	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.04003	0.0112	N	0.00019	-2.8	0.58432	D	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.46978	-0.9152	10	0.02654	T	1	-13.49	15.1337	0.72545	0.0:0.0:0.0:1.0	.	175	O00203	AP3B1_HUMAN	P	175;126;175;79	ENSP00000255194:Q175P;ENSP00000430597:Q126P	ENSP00000255194:Q175P	Q	-	2	0	AP3B1	77558964	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.947000	0.56652	2.021000	0.59480	0.460000	0.39030	CAA		0.358	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
LHFPL2	10184	broad.mit.edu	37	5	77805755	77805755	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:77805755G>A	ENST00000515007.2	-	2	592	c.282C>T	c.(280-282)agC>agT	p.S94S	LHFPL2_ENST00000380345.2_Silent_p.S94S			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	94						integral component of membrane (GO:0016021)		p.S94S(1)		endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GCCAGAAGCCGCTGGCGATCT	0.607																																					p.S94S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	5						.						27.0	29.0	28.0					5																	77805755		2202	4298	6500	77841511	SO:0001819	synonymous_variant	10184	exon4			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.282C>T	5.37:g.77805755G>A			77841511	NM_005779	B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	CCDS4042.1																																																																																				0.607	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
DMGDH	29958	broad.mit.edu	37	5	78326677	78326677	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78326677G>T	ENST00000255189.3	-	10	1690	c.1662C>A	c.(1660-1662)ctC>ctA	p.L554L	DMGDH_ENST00000380311.4_Silent_p.L353L|DMGDH_ENST00000540686.1_Silent_p.L174L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	554					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.L554L(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CATTTGCAAAGAGATGGTCCA	0.383																																					p.L554L												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1662A	5						.						127.0	120.0	122.0					5																	78326677		2203	4300	6503	78362433	SO:0001819	synonymous_variant	29958	exon10			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1662C>A	5.37:g.78326677G>T			78362433	NM_013391	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																				0.383	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
BHMT2	23743	broad.mit.edu	37	5	78376542	78376542	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78376542C>T	ENST00000255192.3	+	4	357	c.291C>T	c.(289-291)ctC>ctT	p.L97L	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	97	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.L97L(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCTGTGACCTCGCCAGGGAAG	0.438																																					p.L97L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	5						.						117.0	119.0	118.0					5																	78376542		2203	4300	6503	78412298	SO:0001819	synonymous_variant	23743	exon4				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.291C>T	5.37:g.78376542C>T			78412298	NM_017614	B7Z516|Q9NXX7	Silent	SNP	ENST00000255192.3	37	CCDS4045.1																																																																																				0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	
BHMT2	23743	broad.mit.edu	37	5	78378752	78378752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78378752G>T	ENST00000255192.3	+	5	637	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Nonsense_Mutation_p.E127*	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	191	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.E191*(2)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	AACCCCCGGAGAATGTGCTGT	0.473																																					p.E127X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G379T	5						.						235.0	221.0	226.0					5																	78378752		2203	4300	6503	78414508	SO:0001587	stop_gained	23743	exon4				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.571G>T	5.37:g.78378752G>T	ENSP00000255192:p.Glu191*		78414508	NM_001178005	B7Z516|Q9NXX7	Nonsense_Mutation	SNP	ENST00000255192.3	37	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946007	0.53079	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	.	.	.	5.62	4.74	0.60224	.	0.191330	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-8.3173	15.9827	0.80125	0.0:0.2701:0.7299:0.0	.	.	.	.	X	191;127	.	ENSP00000255192:E191X	E	+	1	0	BHMT2	78414508	1.000000	0.71417	0.484000	0.27391	0.070000	0.16714	4.398000	0.59697	1.363000	0.46019	0.655000	0.94253	GAA		0.473	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	
BHMT	635	broad.mit.edu	37	5	78416210	78416210	+	Missense_Mutation	SNP	G	G	A	rs111297335		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78416210G>A	ENST00000274353.5	+	4	430	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	108	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.R108Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GACATCGCCCGACAAGTGGCT	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19314	0.0		0.0	False		,,,				2504	0.0				p.R108Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G323A	5						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	55.0	54.0	55.0		323	4.3	1.0	5	dbSNP_132	55	0,8600		0,0,4300	no	missense	BHMT	NM_001713.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	108/407	78416210	1,13005	2203	4300	6503	78451966	SO:0001583	missense	635	exon4			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.323G>A	5.37:g.78416210G>A	ENSP00000274353:p.Arg108Gln		78451966	NM_001713	Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.72	3.458009	0.63401	2.27E-4	0.0	ENSG00000145692	ENST00000274353	T	0.40225	1.04	5.22	4.3	0.51218	Homocysteine S-methyltransferase (4);	0.050811	0.85682	D	0.000000	T	0.37517	0.1006	M	0.70903	2.155	0.80722	D	1	B	0.34226	0.443	B	0.24006	0.05	T	0.40572	-0.9556	10	0.54805	T	0.06	-31.8012	10.1664	0.42882	0.074:0.0:0.7889:0.1371	.	108	Q93088	BHMT1_HUMAN	Q	108	ENSP00000274353:R108Q	ENSP00000274353:R108Q	R	+	2	0	BHMT	78451966	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.538000	0.53597	2.602000	0.87976	0.557000	0.71058	CGA		0.398	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
BHMT	635	broad.mit.edu	37	5	78421875	78421875	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78421875C>A	ENST00000274353.5	+	6	739	c.632C>A	c.(631-633)tCc>tAc	p.S211Y	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.S58Y	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	211	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S211Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	ACAGGAGCATCCATCATTGGT	0.493																																					p.S211Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C632A	5						.						88.0	85.0	86.0					5																	78421875		2203	4300	6503	78457631	SO:0001583	missense	635	exon6			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.632C>A	5.37:g.78421875C>A	ENSP00000274353:p.Ser211Tyr		78457631	NM_001713	Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414148	0.42817	.	.	ENSG00000145692	ENST00000274353;ENST00000524080;ENST00000436224	T;T	0.30981	2.69;1.51	5.66	5.66	0.87406	Homocysteine S-methyltransferase (4);	0.300521	0.43416	D	0.000572	T	0.50446	0.1616	M	0.68952	2.095	0.53688	D	0.99997	D;P	0.56521	0.976;0.831	P;B	0.54706	0.759;0.198	T	0.50440	-0.8828	10	0.87932	D	0	-9.5325	20.1253	0.97977	0.0:1.0:0.0:0.0	.	58;211	E5RJH0;Q93088	.;BHMT1_HUMAN	Y	211;58;58	ENSP00000274353:S211Y;ENSP00000428240:S58Y	ENSP00000274353:S211Y	S	+	2	0	BHMT	78457631	0.991000	0.36638	0.985000	0.45067	0.290000	0.27261	4.645000	0.61404	2.832000	0.97577	0.655000	0.94253	TCC		0.493	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
BHMT	635	broad.mit.edu	37	5	78423681	78423681	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78423681C>A	ENST00000274353.5	+	7	1019	c.912C>A	c.(910-912)ccC>ccA	p.P304P	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Silent_p.P151P	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	304	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.P304P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GATTTGAGCCCTACCACATCA	0.542																																					p.P304P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912A	5						.						46.0	47.0	47.0					5																	78423681		2203	4293	6496	78459437	SO:0001819	synonymous_variant	635	exon7			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.912C>A	5.37:g.78423681C>A			78459437	NM_001713	Q9UNI9	Silent	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043169	0.19748	.	.	ENSG00000145692	ENST00000436224	.	.	.	5.14	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65763	-0.6089	6	0.87932	D	0	-12.6532	7.1087	0.25378	0.2249:0.6374:0.0:0.1377	.	.	.	.	H	151	.	ENSP00000405681:P151H	P	+	2	0	BHMT	78459437	0.906000	0.30813	1.000000	0.80357	0.987000	0.75469	0.091000	0.15046	2.547000	0.85894	0.650000	0.86243	CCT		0.542	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
JMY	133746	broad.mit.edu	37	5	78611934	78611934	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78611934A>C	ENST00000396137.4	+	10	3233	c.2771A>C	c.(2770-2772)aAt>aCt	p.N924T	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	924	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.N570T(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GATAGTAATAATATCTTGGCA	0.413																																					p.N924T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2771C	5						.						106.0	102.0	104.0					5																	78611934		1876	4111	5987	78647690	SO:0001583	missense	133746	exon10			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2771A>C	5.37:g.78611934A>C	ENSP00000379441:p.Asn924Thr		78647690	NM_152405	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	A	19.92	3.917064	0.73098	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.56444	0.46	5.65	5.65	0.86999	Actin-binding WH2 (2);	0.049281	0.85682	D	0.000000	T	0.68906	0.3052	L	0.58810	1.83	0.52099	D	0.999946	D	0.76494	0.999	D	0.70487	0.969	T	0.71758	-0.4496	10	0.72032	D	0.01	.	15.8666	0.79069	1.0:0.0:0.0:0.0	.	924	Q8N9B5	JMY_HUMAN	T	913;924	ENSP00000379441:N924T	ENSP00000282259:N913T	N	+	2	0	JMY	78647690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.751000	0.62169	2.157000	0.67596	0.523000	0.50628	AAT		0.413	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405	
HOMER1	9456	broad.mit.edu	37	5	78742947	78742947	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78742947A>C	ENST00000334082.6	-	4	1758	c.316T>G	c.(316-318)Ttt>Gtt	p.F106V	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.F106V|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	106	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)	p.F106V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GCTTCTTTAAATTCCTGAAAC	0.338																																					p.F106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T316G	5						.						129.0	125.0	126.0					5																	78742947		1819	4081	5900	78778703	SO:0001583	missense	9456	exon4			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.316T>G	5.37:g.78742947A>C	ENSP00000334382:p.Phe106Val		78778703	NM_004272	B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	A	6.536	0.467079	0.12402	.	.	ENSG00000152413	ENST00000334082;ENST00000508576	D;D	0.98329	-4.87;-4.87	5.73	5.73	0.89815	EVH1 (3);Pleckstrin homology-type (1);	0.046591	0.85682	D	0.000000	D	0.88764	0.6525	N	0.00152	-1.975	0.80722	D	1	B;B	0.17465	0.003;0.022	B;B	0.26864	0.007;0.074	D	0.87488	0.2425	10	0.02654	T	1	-12.9511	15.9905	0.80202	1.0:0.0:0.0:0.0	.	106;106	Q86YM7-3;Q86YM7	.;HOME1_HUMAN	V	106	ENSP00000334382:F106V;ENSP00000426651:F106V	ENSP00000334382:F106V	F	-	1	0	HOMER1	78778703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.148000	0.64857	2.166000	0.68216	0.533000	0.62120	TTT		0.338	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272	
PAPD4	167153	broad.mit.edu	37	5	78919085	78919085	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78919085G>A	ENST00000296783.3	+	5	537	c.238G>A	c.(238-240)Gat>Aat	p.D80N	PAPD4_ENST00000504233.1_Missense_Mutation_p.D80N|PAPD4_ENST00000423041.2_Missense_Mutation_p.D80N|PAPD4_ENST00000453514.1_Missense_Mutation_p.D80N|PAPD4_ENST00000428308.2_Missense_Mutation_p.D80N			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	80					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.D80N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGATTAAGCGATGAAAAAAA	0.343																																					p.D80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	5						.						80.0	74.0	76.0					5																	78919085		2203	4300	6503	78954841	SO:0001583	missense	167153	exon4			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.238G>A	5.37:g.78919085G>A	ENSP00000296783:p.Asp80Asn		78954841	NM_001114394	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797026	0.50208	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.83	4.85	0.62838	.	0.489617	0.22606	N	0.057886	T	0.32285	0.0824	N	0.12182	0.205	0.32153	N	0.583938	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.27640	-1.0068	10	0.37606	T	0.19	-15.9872	9.4177	0.38532	0.1268:0.0:0.8732:0.0	.	80;80;80	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	N	80	ENSP00000397563:D80N;ENSP00000393412:D80N;ENSP00000396861:D80N;ENSP00000296783:D80N	ENSP00000296783:D80N	D	+	1	0	PAPD4	78954841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.403000	0.44530	2.753000	0.94483	0.585000	0.79938	GAT		0.343	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
PAPD4	167153	broad.mit.edu	37	5	78944899	78944899	+	Missense_Mutation	SNP	C	C	T	rs376003386		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78944899C>T	ENST00000296783.3	+	11	1212	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	PAPD4_ENST00000504233.1_Intron|PAPD4_ENST00000423041.2_Missense_Mutation_p.R301C|PAPD4_ENST00000453514.1_Missense_Mutation_p.R305C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R305C			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	305					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.R305C(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAATCGAGTTCGTCCGTTAGT	0.368																																					p.R305C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C913T	5						.	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	113.0	108.0	110.0		913,913,913	5.9	1.0	5		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PAPD4	NM_001114393.1,NM_001114394.1,NM_173797.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	305/485,305/485,305/485	78944899	1,13005	2203	4300	6503	78980655	SO:0001583	missense	167153	exon10			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.913C>T	5.37:g.78944899C>T	ENSP00000296783:p.Arg305Cys		78980655	NM_001114394	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240340	0.79912	0.0	1.16E-4	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000428308;ENST00000296783	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.86	5.86	0.93980	.	0.095984	0.64402	D	0.000001	D	0.83413	0.5249	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.70487	0.886;0.969	D	0.87299	0.2304	10	0.87932	D	0	-11.5768	19.7843	0.96430	0.0:1.0:0.0:0.0	.	305;301	Q6PIY7;Q6PIY7-2	GLD2_HUMAN;.	C	305;301;305;305	ENSP00000397563:R305C;ENSP00000393412:R301C;ENSP00000396861:R305C;ENSP00000296783:R305C	ENSP00000296783:R305C	R	+	1	0	PAPD4	78980655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.727000	0.61993	2.774000	0.95407	0.585000	0.79938	CGT		0.368	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
PAPD4	167153	broad.mit.edu	37	5	78981047	78981047	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:78981047G>T	ENST00000296783.3	+	16	1705	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	PAPD4_ENST00000504233.1_Missense_Mutation_p.R426I|PAPD4_ENST00000423041.2_Missense_Mutation_p.R465I|PAPD4_ENST00000453514.1_Missense_Mutation_p.R469I|PAPD4_ENST00000428308.2_Missense_Mutation_p.R469I			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	469					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.R469I(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAAAACAAGAGAGATTTGAAC	0.318																																					p.R469I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406T	5						.						77.0	83.0	81.0					5																	78981047		2203	4300	6503	79016803	SO:0001583	missense	167153	exon15			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1406G>T	5.37:g.78981047G>T	ENSP00000296783:p.Arg469Ile		79016803	NM_001114394	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826622	0.50739	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.85	3.1	0.35709	.	0.196138	0.52532	D	0.000061	T	0.38348	0.1037	N	0.24115	0.695	0.49582	D	0.999809	B;P;P	0.49961	0.415;0.811;0.93	B;P;P	0.47941	0.254;0.562;0.459	T	0.11155	-1.0599	10	0.27785	T	0.31	-3.7406	4.7492	0.13052	0.2864:0.1557:0.558:0.0	.	469;465;426	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	I	469;465;426;469;469	ENSP00000397563:R469I;ENSP00000393412:R465I;ENSP00000421966:R426I;ENSP00000396861:R469I;ENSP00000296783:R469I	ENSP00000296783:R469I	R	+	2	0	PAPD4	79016803	1.000000	0.71417	0.900000	0.35374	0.965000	0.64279	1.777000	0.38604	0.384000	0.24942	0.563000	0.77884	AGA		0.318	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
CMYA5	202333	broad.mit.edu	37	5	79026155	79026155	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79026155G>T	ENST00000446378.2	+	2	1598	c.1567G>T	c.(1567-1569)Gat>Tat	p.D523Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	523	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.D523Y(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAACCTGAAGATTCTAATTT	0.423																																					p.D523Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1567T	5						.						102.0	98.0	99.0					5																	79026155		1843	4094	5937	79061911	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1567G>T	5.37:g.79026155G>T	ENSP00000394770:p.Asp523Tyr		79061911	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316759	0.40996	.	.	ENSG00000164309	ENST00000446378	T	0.40756	1.02	5.8	4.92	0.64577	.	0.279515	0.25648	N	0.029239	T	0.44953	0.1318	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.36138	-0.9760	10	0.87932	D	0	.	7.5442	0.27757	0.0933:0.2606:0.6461:0.0	.	523	Q8N3K9	CMYA5_HUMAN	Y	523	ENSP00000394770:D523Y	ENSP00000394770:D523Y	D	+	1	0	CMYA5	79061911	0.000000	0.05858	0.734000	0.30879	0.452000	0.32318	0.169000	0.16641	2.758000	0.94735	0.563000	0.77884	GAT		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79029955	79029955	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79029955G>A	ENST00000446378.2	+	2	5398	c.5367G>A	c.(5365-5367)aaG>aaA	p.K1789K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1789					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K1789K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTTAGATAAGCTAAGTGAAG	0.418																																					p.K1789K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5367A	5						.						78.0	76.0	77.0					5																	79029955		1864	4096	5960	79065711	SO:0001819	synonymous_variant	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5367G>A	5.37:g.79029955G>A			79065711	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79031104	79031104	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79031104G>T	ENST00000446378.2	+	2	6547	c.6516G>T	c.(6514-6516)aaG>aaT	p.K2172N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2172					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K2172N(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGGGAAAGAAAGGAATTT	0.453																																					p.K2172N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6516T	5						.						63.0	63.0	63.0					5																	79031104		1883	4117	6000	79066860	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6516G>T	5.37:g.79031104G>T	ENSP00000394770:p.Lys2172Asn		79066860	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849821	0.51270	.	.	ENSG00000164309	ENST00000446378	T	0.21191	2.02	5.71	1.77	0.24775	.	0.344421	0.25032	N	0.033669	T	0.10852	0.0265	L	0.38175	1.15	0.20563	N	0.999889	P	0.49253	0.921	B	0.34489	0.184	T	0.28554	-1.0040	10	0.72032	D	0.01	.	3.5665	0.07901	0.2704:0.0:0.5531:0.1765	.	2172	Q8N3K9	CMYA5_HUMAN	N	2172	ENSP00000394770:K2172N	ENSP00000394770:K2172N	K	+	3	2	CMYA5	79066860	0.993000	0.37304	1.000000	0.80357	0.801000	0.45260	0.354000	0.20146	0.894000	0.36317	-0.145000	0.13849	AAG		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79032956	79032956	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79032956G>A	ENST00000446378.2	+	2	8399	c.8368G>A	c.(8368-8370)Gaa>Aaa	p.E2790K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2790					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E2790K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCATCTAAAGAATCCGAAAG	0.393																																					p.E2790K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8368A	5						.						63.0	63.0	63.0					5																	79032956		1849	4085	5934	79068712	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8368G>A	5.37:g.79032956G>A	ENSP00000394770:p.Glu2790Lys		79068712	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005864	0.35415	.	.	ENSG00000164309	ENST00000446378	T	0.44482	0.92	5.62	5.62	0.85841	.	0.440472	0.19328	N	0.116973	T	0.38585	0.1046	L	0.29908	0.895	0.21147	N	0.999776	P	0.47762	0.9	P	0.47299	0.543	T	0.33007	-0.9885	10	0.56958	D	0.05	.	11.8541	0.52427	0.081:0.0:0.919:0.0	.	2790	Q8N3K9	CMYA5_HUMAN	K	2790	ENSP00000394770:E2790K	ENSP00000394770:E2790K	E	+	1	0	CMYA5	79068712	0.380000	0.25131	0.102000	0.21198	0.102000	0.19082	1.977000	0.40589	2.662000	0.90505	0.655000	0.94253	GAA		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79033828	79033828	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79033828G>T	ENST00000446378.2	+	2	9271	c.9240G>T	c.(9238-9240)gaG>gaT	p.E3080D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3080				PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E3080D(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTTGAAGAGAAACTCTCAA	0.343																																					p.E3080D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9240T	5						.						42.0	41.0	41.0					5																	79033828		1801	4067	5868	79069584	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9240G>T	5.37:g.79033828G>T	ENSP00000394770:p.Glu3080Asp		79069584	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	0.233	-1.019320	0.02078	.	.	ENSG00000164309	ENST00000446378	T	0.18657	2.2	5.84	1.24	0.21308	.	0.824437	0.10661	N	0.648728	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.31668	-0.9935	10	0.36615	T	0.2	.	7.4743	0.27368	0.2715:0.1442:0.5843:0.0	.	3080	Q8N3K9	CMYA5_HUMAN	D	3080	ENSP00000394770:E3080D	ENSP00000394770:E3080D	E	+	3	2	CMYA5	79069584	0.000000	0.05858	0.016000	0.15963	0.240000	0.25518	-0.031000	0.12287	0.041000	0.15688	-0.795000	0.03280	GAG		0.343	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79035047	79035047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79035047G>T	ENST00000446378.2	+	2	10490	c.10459G>T	c.(10459-10461)Gaa>Taa	p.E3487*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3487					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E3487*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CGAGAGGAAAGAAGAAGACCA	0.413																																					p.E3487X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G10459T	5						.						82.0	74.0	77.0					5																	79035047		1906	4123	6029	79070803	SO:0001587	stop_gained	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10459G>T	5.37:g.79035047G>T	ENSP00000394770:p.Glu3487*		79070803	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	50	16.528481	0.99865	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.44	5.44	0.79542	.	0.580079	0.15530	N	0.257567	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.0212	0.71632	0.0:0.0:0.8489:0.1511	.	.	.	.	X	3487	.	ENSP00000394770:E3487X	E	+	1	0	CMYA5	79070803	1.000000	0.71417	0.303000	0.25071	0.027000	0.11550	3.178000	0.50879	2.541000	0.85698	0.655000	0.94253	GAA		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
SPZ1	84654	broad.mit.edu	37	5	79617186	79617186	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79617186G>T	ENST00000296739.4	+	1	1397	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	384					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K384N(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGCAATGAAGGGTACATTTT	0.353																																					p.K384N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1152T	5						.						81.0	79.0	80.0					5																	79617186		1857	4098	5955	79652942	SO:0001583	missense	84654	exon1				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1152G>T	5.37:g.79617186G>T	ENSP00000369611:p.Lys384Asn		79652942	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	9.212	1.031184	0.19590	.	.	ENSG00000164299	ENST00000296739	T	0.30981	1.51	3.34	-4.97	0.03029	.	0.856727	0.09896	N	0.741688	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.17684	-1.0361	10	0.48119	T	0.1	-8.7368	3.9738	0.09465	0.4314:0.0:0.3124:0.2562	.	384	Q9BXG8	SPZ1_HUMAN	N	384	ENSP00000369611:K384N	ENSP00000369611:K384N	K	+	3	2	SPZ1	79652942	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.071000	0.03437	-1.225000	0.02578	0.557000	0.71058	AAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
ZFYVE16	9765	broad.mit.edu	37	5	79733112	79733112	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79733112G>A	ENST00000338008.5	+	3	788	c.608G>A	c.(607-609)gGa>gAa	p.G203E	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.G203E|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.G203E	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	203					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.G203E(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAAATCGGAGGAATCAAAGAA	0.313																																					p.G203E	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	5						.						34.0	38.0	37.0					5																	79733112		2197	4294	6491	79768868	SO:0001583	missense	9765	exon4			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.608G>A	5.37:g.79733112G>A	ENSP00000337159:p.Gly203Glu		79768868	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	1.939	-0.443955	0.04604	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.38240	1.15;1.15;1.15	5.15	0.974	0.19715	.	0.758897	0.11642	N	0.543713	T	0.18383	0.0441	L	0.27053	0.805	0.09310	N	1	P;B	0.36909	0.573;0.001	B;B	0.39217	0.294;0.002	T	0.16808	-1.0390	10	0.02654	T	1	-0.0233	2.4023	0.04404	0.1759:0.3827:0.3033:0.1381	.	203;203	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	E	203	ENSP00000337159:G203E;ENSP00000423663:G203E;ENSP00000426848:G203E	ENSP00000337159:G203E	G	+	2	0	ZFYVE16	79768868	0.000000	0.05858	0.006000	0.13384	0.424000	0.31475	0.025000	0.13577	0.628000	0.30357	0.467000	0.42956	GGA		0.313	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ZFYVE16	9765	broad.mit.edu	37	5	79768673	79768673	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79768673T>G	ENST00000338008.5	+	15	4298	c.4118T>G	c.(4117-4119)gTt>gGt	p.V1373G	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V1373G|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V1373G	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1373					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.V1373G(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGTGGGAAAGTTGATGCAGTA	0.368																																					p.V1373G	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4118G	5						.						100.0	102.0	101.0					5																	79768673		2203	4300	6503	79804429	SO:0001583	missense	9765	exon16			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4118T>G	5.37:g.79768673T>G	ENSP00000337159:p.Val1373Gly		79804429	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757723	0.49468	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41400	1.0;1.0;1.0	5.74	3.36	0.38483	Domain of unknown function DUF3480 (1);	0.126329	0.35525	N	0.003154	T	0.37376	0.1001	L	0.47716	1.5	0.58432	D	0.999996	B;B	0.26318	0.146;0.024	B;B	0.32928	0.155;0.062	T	0.19451	-1.0305	10	0.66056	D	0.02	-8.3394	8.8083	0.34952	0.0:0.1615:0.0:0.8385	.	183;1373	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	G	1373	ENSP00000337159:V1373G;ENSP00000423663:V1373G;ENSP00000426848:V1373G	ENSP00000337159:V1373G	V	+	2	0	ZFYVE16	79804429	0.004000	0.15560	0.992000	0.48379	0.989000	0.77384	-0.067000	0.11579	0.445000	0.26639	0.533000	0.62120	GTT		0.368	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
FAM151B	167555	broad.mit.edu	37	5	79815585	79815585	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79815585A>G	ENST00000282226.4	+	4	546	c.391A>G	c.(391-393)Aat>Gat	p.N131D	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	131								p.N131D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		TGTATGGATTAATGCCGATAT	0.393																																					p.N131D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A391G	5						.						131.0	115.0	120.0					5																	79815585		2203	4300	6503	79851341	SO:0001583	missense	167555	exon4				CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.391A>G	5.37:g.79815585A>G	ENSP00000282226:p.Asn131Asp		79851341	NM_205548	A2RRE4	Missense_Mutation	SNP	ENST00000282226.4	37	CCDS4051.1	.	.	.	.	.	.	.	.	.	.	a	27.0	4.788430	0.90367	.	.	ENSG00000152380	ENST00000282226	T	0.15372	2.43	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	M	0.91300	3.195	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.60959	-0.7159	10	0.66056	D	0.02	-20.9775	15.0519	0.71881	1.0:0.0:0.0:0.0	.	131	Q6UXP7	F151B_HUMAN	D	131	ENSP00000282226:N131D	ENSP00000282226:N131D	N	+	1	0	FAM151B	79851341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.596000	0.82721	2.190000	0.69967	0.519000	0.50382	AAT		0.393	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1	NM_205548	
ANKRD34B	340120	broad.mit.edu	37	5	79855228	79855228	+	Missense_Mutation	SNP	G	G	A	rs147746790	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79855228G>A	ENST00000338682.3	-	5	1283	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	204						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T204M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CGTCAGTTCCGTTTCAGAAGA	0.488													G|||	3	0.000599042	0.0015	0.0	5008	,	,		20788	0.0		0.0	False		,,,				2504	0.001				p.T204M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611T	5						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	140.0	132.0	135.0		611	-0.5	0.0	5	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKRD34B	NM_001004441.2	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	204/515	79855228	2,13004	2203	4300	6503	79890984	SO:0001583	missense	340120	exon5				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.611C>T	5.37:g.79855228G>A	ENSP00000339802:p.Thr204Met		79890984	NM_001004441	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	2.694	-0.272560	0.05716	2.27E-4	1.16E-4	ENSG00000189127	ENST00000338682	T	0.20332	2.08	5.74	-0.515	0.11954	.	0.351137	0.25636	N	0.029306	T	0.17534	0.0421	M	0.63428	1.95	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.16364	-1.0405	10	0.48119	T	0.1	-2.2764	6.01	0.19569	0.3703:0.0:0.5082:0.1215	.	204	A5PLL1	AN34B_HUMAN	M	204	ENSP00000339802:T204M	ENSP00000339802:T204M	T	-	2	0	ANKRD34B	79890984	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	1.106000	0.31098	0.082000	0.17018	0.655000	0.94253	ACG		0.488	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441	
MSH3	4437	broad.mit.edu	37	5	79966110	79966110	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:79966110C>A	ENST00000265081.6	+	4	854	c.774C>A	c.(772-774)ttC>ttA	p.F258L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	258	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.F249L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGTATAGATTCTTTGGGGAAG	0.348								Mismatch excision repair (MMR)																													p.F258L	Melanoma(88;1010 1399 13793 26548 36275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C774A	5						.						143.0	145.0	144.0					5																	79966110		2203	4300	6503	80001866	SO:0001583	missense	4437	exon4			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.774C>A	5.37:g.79966110C>A	ENSP00000265081:p.Phe258Leu		80001866	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138791	0.77775	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86694	-2.16	5.67	4.81	0.61882	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.051793	0.85682	D	0.000000	D	0.86138	0.5861	N	0.16037	0.36	0.43003	D	0.994522	D	0.76494	0.999	D	0.87578	0.998	D	0.84765	0.0764	9	.	.	.	-18.1755	11.3733	0.49713	0.0:0.853:0.0:0.147	.	258	P20585	MSH3_HUMAN	L	258;249	ENSP00000265081:F258L	.	F	+	3	2	MSH3	80001866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.739000	0.55075	1.399000	0.46721	0.655000	0.94253	TTC		0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
MSH3	4437	broad.mit.edu	37	5	80021366	80021366	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80021366G>T	ENST00000265081.6	+	9	1515	c.1435G>T	c.(1435-1437)Gat>Tat	p.D479Y	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	479					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.D470Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTATGCAAAAGATACAGTTGA	0.338								Mismatch excision repair (MMR)																													p.D479Y	Melanoma(88;1010 1399 13793 26548 36275)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1435T	5						.						129.0	127.0	128.0					5																	80021366		2203	4300	6503	80057122	SO:0001583	missense	4437	exon9			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1435G>T	5.37:g.80021366G>T	ENSP00000265081:p.Asp479Tyr		80057122	NM_002439	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919138	0.52546	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87809	-2.3	5.25	5.25	0.73442	DNA mismatch repair protein MutS, connector (2);	0.896444	0.09578	N	0.783292	D	0.90762	0.7100	L	0.50333	1.59	0.33022	D	0.528927	D	0.61080	0.989	P	0.61070	0.883	D	0.88502	0.3083	9	.	.	.	-13.6274	14.2877	0.66256	0.0:0.15:0.85:0.0	.	479	P20585	MSH3_HUMAN	Y	479;470	ENSP00000265081:D479Y	.	D	+	1	0	MSH3	80057122	1.000000	0.71417	0.914000	0.36105	0.587000	0.36485	3.135000	0.50546	2.613000	0.88420	0.579000	0.79373	GAT		0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439	
RASGRF2	5924	broad.mit.edu	37	5	80381719	80381719	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80381719G>T	ENST00000265080.4	+	8	1327	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	420	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E420D(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAAAGCTAGAGGAACTATCCA	0.448																																					p.E420D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1260T	5						.						93.0	94.0	94.0					5																	80381719		2203	4300	6503	80417475	SO:0001583	missense	5924	exon8			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1260G>T	5.37:g.80381719G>T	ENSP00000265080:p.Glu420Asp		80417475	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447944	0.63178	.	.	ENSG00000113319	ENST00000265080	T	0.65549	-0.16	5.57	2.35	0.29111	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	L	0.52364	1.645	0.46874	D	0.999238	D;D	0.65815	0.995;0.986	D;D	0.70227	0.968;0.913	T	0.65721	-0.6099	10	0.56958	D	0.05	.	5.4801	0.16719	0.5129:0.0:0.4871:0.0	.	420;420	D6RAS9;O14827	.;RGRF2_HUMAN	D	420	ENSP00000265080:E420D	ENSP00000265080:E420D	E	+	3	2	RASGRF2	80417475	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	1.312000	0.33574	0.835000	0.34877	0.650000	0.86243	GAG		0.448	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
CKMT2	1160	broad.mit.edu	37	5	80550830	80550830	+	Missense_Mutation	SNP	G	G	A	rs551718764		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80550830G>A	ENST00000424301.2	+	6	704	c.466G>A	c.(466-468)Gac>Aac	p.D156N	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D156N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D156N|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	156					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.D156N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AGGGCAGTTCGACGAGCATTA	0.637																																					p.D156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	5						.						55.0	56.0	56.0					5																	80550830		2203	4300	6503	80586586	SO:0001583	missense	1160	exon6				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.466G>A	5.37:g.80550830G>A	ENSP00000404203:p.Asp156Asn		80586586	NM_001825	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035082	0.75617	.	.	ENSG00000131730	ENST00000254035;ENST00000511719;ENST00000437669;ENST00000424301	T;T;T;T	0.25414	2.64;1.8;2.64;2.64	5.8	5.8	0.92144	ATP:guanido phosphotransferase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74765	-0.3554	10	0.72032	D	0.01	-28.0346	20.0693	0.97712	0.0:0.0:1.0:0.0	.	156	P17540	KCRS_HUMAN	N	156	ENSP00000254035:D156N;ENSP00000423264:D156N;ENSP00000410289:D156N;ENSP00000404203:D156N	ENSP00000254035:D156N	D	+	1	0	CKMT2	80586586	1.000000	0.71417	0.320000	0.25306	0.089000	0.18198	7.655000	0.83696	2.758000	0.94735	0.563000	0.77884	GAC		0.637	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
CKMT2	1160	broad.mit.edu	37	5	80551031	80551031	+	Missense_Mutation	SNP	G	G	A	rs371191747		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80551031G>A	ENST00000424301.2	+	6	905	c.667G>A	c.(667-669)Gat>Aat	p.D223N	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.D223N|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.D223N|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	223	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.D223N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCGGCTCATCGATGTGAGTAG	0.632																																					p.D223N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G667A	5						.						39.0	35.0	36.0					5																	80551031		2203	4300	6503	80586787	SO:0001583	missense	1160	exon6				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.667G>A	5.37:g.80551031G>A	ENSP00000404203:p.Asp223Asn		80586787	NM_001825	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087936	0.55968	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.11495	2.77;2.77;2.77	5.65	5.65	0.86999	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.099120	0.64402	D	0.000002	T	0.09291	0.0229	N	0.16130	0.375	0.80722	D	1	B	0.11235	0.004	B	0.15052	0.012	T	0.26258	-1.0108	10	0.40728	T	0.16	-37.2184	19.7278	0.96172	0.0:0.0:1.0:0.0	.	223	P17540	KCRS_HUMAN	N	223	ENSP00000254035:D223N;ENSP00000410289:D223N;ENSP00000404203:D223N	ENSP00000254035:D223N	D	+	1	0	CKMT2	80586787	1.000000	0.71417	0.997000	0.53966	0.356000	0.29392	9.470000	0.97683	2.681000	0.91329	0.563000	0.77884	GAT		0.632	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
CKMT2	1160	broad.mit.edu	37	5	80554945	80554945	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80554945C>T	ENST00000424301.2	+	9	1124	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R296W|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.R296W|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	296	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.R296W(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GTAGGTAGAACGGTTAATCCA	0.468																																					p.R296W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C886T	5						.						211.0	196.0	201.0					5																	80554945		2203	4300	6503	80590701	SO:0001583	missense	1160	exon9				CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.886C>T	5.37:g.80554945C>T	ENSP00000404203:p.Arg296Trp		80590701	NM_001825	Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	CCDS4053.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520452	0.64747	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.23754	1.89;1.89;1.89	5.29	4.34	0.51931	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.195693	0.46442	D	0.000297	T	0.35248	0.0925	M	0.74258	2.255	0.51012	D	0.999908	D	0.61697	0.99	P	0.48114	0.567	T	0.28522	-1.0041	10	0.87932	D	0	-41.165	10.6946	0.45892	0.4316:0.5684:0.0:0.0	.	296	P17540	KCRS_HUMAN	W	296	ENSP00000254035:R296W;ENSP00000410289:R296W;ENSP00000404203:R296W	ENSP00000254035:R296W	R	+	1	2	CKMT2	80590701	0.997000	0.39634	0.968000	0.41197	0.685000	0.39939	1.263000	0.33004	2.483000	0.83821	0.591000	0.81541	CGG		0.468	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825	
ZCCHC9	84240	broad.mit.edu	37	5	80608439	80608439	+	Silent	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80608439G>A	ENST00000254037.2	+	5	3929	c.774G>A	c.(772-774)ccG>ccA	p.P258P	ZCCHC9_ENST00000438268.2_Silent_p.P258P|ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000380199.5_Silent_p.P258P|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	258					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P258P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TACCTAAACCGCAAAAACCCA	0.388																																					p.P258P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G774A	5						.						96.0	91.0	92.0					5																	80608439		2203	4300	6503	80644195	SO:0001819	synonymous_variant	84240	exon6			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.774G>A	5.37:g.80608439G>A			80644195	NM_001131036	B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	CCDS4054.1																																																																																				0.388	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280	
ACOT12	134526	broad.mit.edu	37	5	80626645	80626645	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80626645G>T	ENST00000307624.3	-	14	1534	c.1506C>A	c.(1504-1506)agC>agA	p.S502R	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	502	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.S502R(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGCATGAATTGCTGTCAATAG	0.418																																					p.S502R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1506A	5						.						86.0	80.0	82.0					5																	80626645		2203	4300	6503	80662401	SO:0001583	missense	134526	exon14			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1506C>A	5.37:g.80626645G>T	ENSP00000303246:p.Ser502Arg		80662401	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.978035	0.18812	.	.	ENSG00000172497	ENST00000307624	T	0.31510	1.49	5.74	3.96	0.45880	Lipid-binding START (2);START-like domain (1);	0.257712	0.46442	D	0.000298	T	0.41190	0.1148	M	0.73598	2.24	0.80722	D	1	B	0.33964	0.434	P	0.45610	0.487	T	0.27434	-1.0074	10	0.35671	T	0.21	-18.2073	8.069	0.30678	0.1785:0.0:0.8215:0.0	.	502	Q8WYK0	ACO12_HUMAN	R	502	ENSP00000303246:S502R	ENSP00000303246:S502R	S	-	3	2	ACOT12	80662401	0.191000	0.23288	0.613000	0.29037	0.012000	0.07955	1.856000	0.39389	1.439000	0.47511	-0.254000	0.11334	AGC		0.418	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80655779G>A	ENST00000307624.3	-	5	467	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ACOT12_ENST00000513751.1_Nonsense_Mutation_p.R147*	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	147					acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R147*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313																																					p.R147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C439T	5						.						132.0	129.0	130.0					5																	80655779		2203	4300	6503	80691535	SO:0001587	stop_gained	134526	exon5			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.439C>T	5.37:g.80655779G>A	ENSP00000303246:p.Arg147*		80691535	NM_130767	B3KVK9|Q5FWE9	Nonsense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121210	0.56613	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	.	.	.	5.04	3.07	0.35406	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.9079	13.1836	0.59668	0.0:0.0:0.7144:0.2856	.	.	.	.	X	147	.	ENSP00000303246:R147X	R	-	1	2	ACOT12	80691535	1.000000	0.71417	0.958000	0.39756	0.533000	0.34776	2.560000	0.45896	1.203000	0.43233	0.655000	0.94253	CGA		0.313	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
ACOT12	134526	broad.mit.edu	37	5	80659684	80659684	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:80659684C>A	ENST00000307624.3	-	4	311	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	ACOT12_ENST00000513751.1_Missense_Mutation_p.D95Y	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	95	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.D95Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTGAGCATATCCTGTACCATG	0.343																																					p.D95Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283T	5						.						108.0	104.0	105.0					5																	80659684		2203	4300	6503	80695440	SO:0001583	missense	134526	exon4			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.283G>T	5.37:g.80659684C>A	ENSP00000303246:p.Asp95Tyr		80695440	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797466	0.70567	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.37915	1.17;1.17	6.06	6.06	0.98353	Thioesterase superfamily (1);	0.055536	0.64402	D	0.000001	T	0.72732	0.3497	H	0.94847	3.59	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79487	-0.1783	10	0.87932	D	0	-5.212	19.3923	0.94587	0.0:1.0:0.0:0.0	.	95;95	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	Y	95	ENSP00000303246:D95Y;ENSP00000421628:D95Y	ENSP00000303246:D95Y	D	-	1	0	ACOT12	80695440	1.000000	0.71417	0.970000	0.41538	0.587000	0.36485	5.322000	0.65852	2.882000	0.98803	0.655000	0.94253	GAT		0.343	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
VCAN	1462	broad.mit.edu	37	5	82779403	82779403	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82779403T>C	ENST00000265077.3	+	2	631	c.66T>C	c.(64-66)caT>caC	p.H22H	VCAN_ENST00000342785.4_Silent_p.H22H|VCAN_ENST00000502527.2_Silent_p.H22H|VCAN_ENST00000513984.1_Silent_p.H22H|VCAN_ENST00000343200.5_Silent_p.H22H|VCAN_ENST00000512590.2_5'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	22	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.H22H(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATGCGCTACATAAAGGTGAGT	0.333																																					p.H22H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T66C	5						.						135.0	125.0	129.0					5																	82779403		2203	4299	6502	82815159	SO:0001819	synonymous_variant	1462	exon2			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.66T>C	5.37:g.82779403T>C			82815159	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.333	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82786075	82786075	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82786075G>T	ENST00000265077.3	+	3	794	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	VCAN_ENST00000342785.4_Missense_Mutation_p.D77Y|VCAN_ENST00000502527.2_Missense_Mutation_p.D77Y|VCAN_ENST00000513984.1_Missense_Mutation_p.D77Y|VCAN_ENST00000343200.5_Missense_Mutation_p.D77Y|VCAN_ENST00000512590.2_Missense_Mutation_p.D29Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	77	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.D77Y(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAATGGAAAAGATTTGAAAGA	0.433																																					p.D77Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229T	5						.						108.0	106.0	107.0					5																	82786075		2203	4300	6503	82821831	SO:0001583	missense	1462	exon3			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.229G>T	5.37:g.82786075G>T	ENSP00000265077:p.Asp77Tyr		82821831	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003492	0.74932	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.78227	0.4250	L	0.59436	1.845	0.48087	D	0.999583	D;B;D;D;B	0.89917	1.0;0.051;1.0;1.0;0.34	D;B;D;D;B	0.97110	0.994;0.059;1.0;0.999;0.279	T	0.78763	-0.2077	10	0.87932	D	0	.	19.9898	0.97362	0.0:0.0:1.0:0.0	.	77;77;77;77;77	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	Y	77;77;77;29;77;77;77	ENSP00000265077:D77Y;ENSP00000340062:D77Y;ENSP00000342768:D77Y;ENSP00000425959:D29Y;ENSP00000426251:D77Y;ENSP00000426715:D77Y;ENSP00000421362:D77Y	ENSP00000265077:D77Y	D	+	1	0	VCAN	82821831	1.000000	0.71417	0.981000	0.43875	0.807000	0.45602	2.871000	0.48459	2.733000	0.93635	0.655000	0.94253	GAT		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82816285	82816285	+	Silent	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82816285C>T	ENST00000265077.3	+	7	2725	c.2160C>T	c.(2158-2160)gtC>gtT	p.V720V	VCAN_ENST00000342785.4_Silent_p.V720V|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.V672V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	720	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V720V(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGAAGAAGTCTTCTCTGGGA	0.363																																					p.V720V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C2160T	5						.						70.0	72.0	71.0					5																	82816285		2203	4300	6503	82852041	SO:0001819	synonymous_variant	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2160C>T	5.37:g.82816285C>T			82852041	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82817633	82817633	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82817633A>G	ENST00000265077.3	+	7	4073	c.3508A>G	c.(3508-3510)Act>Gct	p.T1170A	VCAN_ENST00000342785.4_Missense_Mutation_p.T1170A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T1122A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1170	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T1170A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGAAACCACTACTGAGAAAAC	0.363																																					p.T1170A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3508G	5						.						102.0	104.0	103.0					5																	82817633		2203	4300	6503	82853389	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3508A>G	5.37:g.82817633A>G	ENSP00000265077:p.Thr1170Ala		82853389	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.636184	0.00114	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84873	-1.84;-1.89;-1.91	5.7	-1.26	0.09376	.	0.474634	0.19648	N	0.109293	T	0.64746	0.2626	N	0.25144	0.715	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.11329	0.006;0.002	T	0.46105	-0.9215	10	0.08179	T	0.78	.	1.9268	0.03319	0.5429:0.1248:0.2119:0.1204	.	1170;1170	P13611-3;P13611	.;CSPG2_HUMAN	A	1170;1170;1122	ENSP00000265077:T1170A;ENSP00000342768:T1170A;ENSP00000425959:T1122A	ENSP00000265077:T1170A	T	+	1	0	VCAN	82853389	0.000000	0.05858	0.263000	0.24496	0.014000	0.08584	0.199000	0.17237	0.093000	0.17368	-1.517000	0.00937	ACT		0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82832870	82832870	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82832870G>T	ENST00000265077.3	+	8	4613	c.4048G>T	c.(4048-4050)Gaa>Taa	p.E1350*	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E363*|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1350	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E1350*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATAGATTCAGAATCTAAAGA	0.338																																					p.E363X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1087T	5						.						84.0	86.0	85.0					5																	82832870		2203	4300	6503	82868626	SO:0001587	stop_gained	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4048G>T	5.37:g.82832870G>T	ENSP00000265077:p.Glu1350*		82868626	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	47	13.371738	0.99738	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.71	4.66	0.58398	.	0.198109	0.35970	N	0.002875	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.5911	0.76530	0.0768:0.0:0.9232:0.0	.	.	.	.	X	1350;363;363	.	ENSP00000265077:E1350X	E	+	1	0	VCAN	82868626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.623000	0.54224	2.703000	0.92315	0.555000	0.69702	GAA		0.338	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82834539	82834539	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82834539T>G	ENST00000265077.3	+	8	6282	c.5717T>G	c.(5716-5718)aTa>aGa	p.I1906R	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I919R|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1906	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.I1906R(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCCAGGGAAATAGTGATTTCA	0.418																																					p.I919R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2756G	5						.						103.0	110.0	108.0					5																	82834539		2203	4300	6503	82870295	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5717T>G	5.37:g.82834539T>G	ENSP00000265077:p.Ile1906Arg		82870295	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	0.180	-1.062916	0.01950	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84944	-1.9;-1.92;3.29	5.71	-3.52	0.04682	.	0.959699	0.08689	N	0.908259	T	0.62466	0.2430	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.0	B;B	0.18871	0.023;0.0	T	0.50197	-0.8856	10	0.16420	T	0.52	.	2.4967	0.04623	0.2023:0.3195:0.0726:0.4056	.	919;1906	P13611-2;P13611	.;CSPG2_HUMAN	R	1906;919;919	ENSP00000265077:I1906R;ENSP00000340062:I919R;ENSP00000426251:I919R	ENSP00000265077:I1906R	I	+	2	0	VCAN	82870295	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.597000	0.05713	-0.454000	0.07066	-1.216000	0.01612	ATA		0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82836248	82836248	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82836248G>A	ENST00000265077.3	+	8	7991	c.7426G>A	c.(7426-7428)Gct>Act	p.A2476T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1489T|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2476	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A2476T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGCGCTAAAGCTGTTACTGC	0.473																																					p.A1489T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4465A	5						.						93.0	89.0	91.0					5																	82836248		2203	4300	6503	82872004	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7426G>A	5.37:g.82836248G>A	ENSP00000265077:p.Ala2476Thr		82872004	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632692	0.29068	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.39787	1.06;1.06	6.17	3.45	0.39498	.	0.396219	0.24347	N	0.039301	T	0.32734	0.0839	L	0.52364	1.645	0.09310	N	1	B;B	0.27351	0.176;0.11	B;B	0.21917	0.037;0.037	T	0.16778	-1.0391	10	0.21540	T	0.41	.	9.281	0.37729	0.2818:0.0:0.7182:0.0	.	1489;2476	P13611-2;P13611	.;CSPG2_HUMAN	T	2476;1489	ENSP00000265077:A2476T;ENSP00000340062:A1489T	ENSP00000265077:A2476T	A	+	1	0	VCAN	82872004	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.086000	0.30853	0.477000	0.27464	0.655000	0.94253	GCT		0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82837061	82837061	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82837061A>G	ENST00000265077.3	+	8	8804	c.8239A>G	c.(8239-8241)Act>Gct	p.T2747A	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1760A|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2747	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T2747A(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATTTGAAAGGACTCAGGAGGA	0.423																																					p.T1760A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5278G	5						.						41.0	38.0	39.0					5																	82837061		2203	4300	6503	82872817	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8239A>G	5.37:g.82837061A>G	ENSP00000265077:p.Thr2747Ala		82872817	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475686	0.44044	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.48836	0.8;0.8	6.17	5.0	0.66597	.	0.189468	0.38381	N	0.001716	T	0.43787	0.1263	M	0.61703	1.905	0.54753	D	0.999989	P;P	0.49559	0.925;0.877	P;B	0.44561	0.453;0.265	T	0.38607	-0.9653	10	0.33141	T	0.24	.	5.5346	0.17003	0.7251:0.167:0.1079:0.0	.	1760;2747	P13611-2;P13611	.;CSPG2_HUMAN	A	2747;1760	ENSP00000265077:T2747A;ENSP00000340062:T1760A	ENSP00000265077:T2747A	T	+	1	0	VCAN	82872817	0.999000	0.42202	0.997000	0.53966	0.905000	0.53344	2.420000	0.44679	1.132000	0.42129	0.533000	0.62120	ACT		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82837810	82837810	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82837810A>G	ENST00000265077.3	+	8	9553	c.8988A>G	c.(8986-8988)ccA>ccG	p.P2996P	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.P2009P|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2996	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P2996P(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGCTAAGTCCACAGACTTCTG	0.502																																					p.P2009P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6027G	5						.						53.0	55.0	54.0					5																	82837810		2203	4300	6503	82873566	SO:0001819	synonymous_variant	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8988A>G	5.37:g.82837810A>G			82873566	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82849228	82849228	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82849228G>A	ENST00000265077.3	+	11	10104	c.9539G>A	c.(9538-9540)tGc>tAc	p.C3180Y	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.C1426Y|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.C439Y|VCAN_ENST00000343200.5_Missense_Mutation_p.C2193Y|VCAN_ENST00000512590.2_Missense_Mutation_p.C1378Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3180	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.C3180Y(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGGGCAGTGCTACAAATAC	0.498																																					p.C2193Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6578A	5						.						138.0	119.0	126.0					5																	82849228		2203	4300	6503	82884984	SO:0001583	missense	1462	exon10			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9539G>A	5.37:g.82849228G>A	ENSP00000265077:p.Cys3180Tyr		82884984	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234071	0.95207	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000001	T	0.75568	0.3867	H	0.96662	3.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.82876	-0.0240	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1426;439;2193;3180	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	Y	3180;2193;1426;1378;439	ENSP00000265077:C3180Y;ENSP00000340062:C2193Y;ENSP00000342768:C1426Y;ENSP00000425959:C1378Y;ENSP00000421362:C439Y	ENSP00000265077:C3180Y	C	+	2	0	VCAN	82884984	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TGC		0.498	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82849341	82849341	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82849341C>T	ENST00000265077.3	+	11	10217	c.9652C>T	c.(9652-9654)Cgt>Tgt	p.R3218C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Splice_Site_p.R1464C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Splice_Site_p.R477C|VCAN_ENST00000343200.5_Splice_Site_p.R2231C|VCAN_ENST00000512590.2_Splice_Site_p.R1416C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3218	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R3218C(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTTTGTTAATCGTATGTACCA	0.443																																					p.R2231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6691T	5						.						104.0	89.0	94.0					5																	82849341		2203	4300	6503	82885097	SO:0001630	splice_region_variant	1462	exon10			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9652+1C>T	5.37:g.82849341C>T			82885097	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198635	0.94997	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000006	T	0.44685	0.1305	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.994;1.0	T	0.11817	-1.0572	10	0.62326	D	0.03	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1464;477;2231;3218	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3218;2231;1464;1416;477	ENSP00000265077:R3218C;ENSP00000340062:R2231C;ENSP00000342768:R1464C;ENSP00000425959:R1416C;ENSP00000421362:R477C	ENSP00000265077:R3218C	R	+	1	0	VCAN	82885097	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.924000	0.63418	2.882000	0.98803	0.655000	0.94253	CGT		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	Missense_Mutation
RASA1	5921	broad.mit.edu	37	5	86629109	86629109	+	Missense_Mutation	SNP	G	G	A	rs374823017		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:86629109G>A	ENST00000274376.6	+	4	1418	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	RASA1_ENST00000506290.1_Missense_Mutation_p.R119Q|RASA1_ENST00000512763.1_Missense_Mutation_p.R118Q|RASA1_ENST00000456692.2_Missense_Mutation_p.R108Q	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	285	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R285Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGGCGTGTACGAGCTATTCTA	0.313																																					p.R285Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G854A	5						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	68.0	74.0	72.0		854,323	5.3	1.0	5		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RASA1	NM_002890.2,NM_022650.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	285/1048,108/871	86629109	1,13005	2203	4300	6503	86664865	SO:0001583	missense	5921	exon4				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.854G>A	5.37:g.86629109G>A	ENSP00000274376:p.Arg285Gln		86664865	NM_002890	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374849	0.82573	0.0	1.16E-4	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.3	5.3	0.74995	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.41573	1.285	0.54753	D	0.999989	P;P;P;P;P	0.50528	0.87;0.936;0.87;0.843;0.743	B;B;B;B;B	0.39503	0.234;0.301;0.234;0.15;0.169	T	0.42310	-0.9459	10	0.46703	T	0.11	.	18.9403	0.92602	0.0:0.0:1.0:0.0	.	119;118;119;108;285	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	Q	285;318;108;118;119	ENSP00000274376:R285Q;ENSP00000411221:R108Q;ENSP00000422008:R118Q;ENSP00000420905:R119Q	ENSP00000274376:R285Q	R	+	2	0	RASA1	86664865	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.063000	0.71162	2.480000	0.83734	0.650000	0.86243	CGA		0.313	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
RASA1	5921	broad.mit.edu	37	5	86670028	86670028	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:86670028A>C	ENST00000274376.6	+	14	2389	c.1825A>C	c.(1825-1827)Aaa>Caa	p.K609Q	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Missense_Mutation_p.K443Q|RASA1_ENST00000512763.1_Missense_Mutation_p.K442Q|RASA1_ENST00000456692.2_Missense_Mutation_p.K432Q	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	609	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.K609Q(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTCCCAGTAAAACATTTTAC	0.338																																					p.K609Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1825C	5						.						70.0	69.0	69.0					5																	86670028		2202	4300	6502	86705784	SO:0001583	missense	5921	exon14				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1825A>C	5.37:g.86670028A>C	ENSP00000274376:p.Lys609Gln		86705784	NM_002890	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591672	0.86953	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.096519	0.85682	D	0.000000	D	0.82806	0.5117	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998	D;D;D;D;D	0.70016	0.955;0.955;0.955;0.925;0.967	D	0.85062	0.0935	10	0.87932	D	0	.	15.7276	0.77774	1.0:0.0:0.0:0.0	.	443;442;443;432;609	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	Q	609;642;432;442;443	ENSP00000274376:K609Q;ENSP00000411221:K432Q;ENSP00000422008:K442Q;ENSP00000420905:K443Q	ENSP00000274376:K609Q	K	+	1	0	RASA1	86705784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.180000	0.69256	0.454000	0.30748	AAA		0.338	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
RASA1	5921	broad.mit.edu	37	5	86681142	86681142	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:86681142G>T	ENST00000274376.6	+	22	3347	c.2783G>T	c.(2782-2784)aGa>aTa	p.R928I	RASA1_ENST00000506290.1_Missense_Mutation_p.R762I|RASA1_ENST00000512763.1_Missense_Mutation_p.R761I|RASA1_ENST00000456692.2_Missense_Mutation_p.R751I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	928	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R928I(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ATTGCTGCAAGAACACTGATA	0.358																																					p.R928I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2783T	5						.						123.0	110.0	114.0					5																	86681142		2202	4300	6502	86716898	SO:0001583	missense	5921	exon22				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2783G>T	5.37:g.86681142G>T	ENSP00000274376:p.Arg928Ile		86716898	NM_002890	B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218996	0.95104	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.56	5.56	0.83823	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.044105	0.85682	D	0.000000	T	0.69762	0.3147	H	0.95151	3.63	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.997;0.995;0.997	T	0.78999	-0.1982	10	0.87932	D	0	.	19.4995	0.95089	0.0:0.0:1.0:0.0	.	762;761;762;751;928	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	I	928;751;761;762	ENSP00000274376:R928I;ENSP00000411221:R751I;ENSP00000422008:R761I;ENSP00000420905:R762I	ENSP00000274376:R928I	R	+	2	0	RASA1	86716898	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.536000	0.98067	2.777000	0.95525	0.591000	0.81541	AGA		0.358	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
TMEM161B	153396	broad.mit.edu	37	5	87502990	87502990	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:87502990G>T	ENST00000296595.6	-	6	578	c.454C>A	c.(454-456)Cta>Ata	p.L152I	TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000509387.1_Missense_Mutation_p.L25I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.L152I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.L141I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	152						integral component of membrane (GO:0016021)		p.L152I(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AATGAAAATAGAACTTTGCTG	0.318																																					p.L152I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454A	5						.						51.0	54.0	53.0					5																	87502990		2203	4296	6499	87538746	SO:0001583	missense	153396	exon6			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.454C>A	5.37:g.87502990G>T	ENSP00000296595:p.Leu152Ile		87538746	NM_153354	Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703677	0.68501	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.24	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.73598	2.24	0.80722	D	1	P	0.49447	0.924	P	0.53266	0.722	T	0.67043	-0.5770	9	0.62326	D	0.03	-25.572	6.4472	0.21883	0.1463:0.0:0.7026:0.1511	.	152	Q8NDZ6	T161B_HUMAN	I	152;152;141;152;25	.	ENSP00000296595:L152I	L	-	1	2	TMEM161B	87538746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.938000	0.63519	1.316000	0.45131	0.585000	0.79938	CTA		0.318	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354	
MEF2C	4208	broad.mit.edu	37	5	88056840	88056840	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:88056840C>T	ENST00000437473.2	-	4	820				MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.E121K|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.E141K|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000504921.2_Intron	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C						apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E121K(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTATCAAATTCTTCATTAATT	0.393										HNSCC(66;0.2)																											p.E141K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G421A	5						.						99.0	95.0	96.0					5																	88056840		1568	3582	5150	88092596	SO:0001627	intron_variant	4208	exon6			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.402+161G>A	5.37:g.88056840C>T			88092596	NM_001193347	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177290	0.78564	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000513252;ENST00000506716	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.9	5.9	0.94986	.	.	.	.	.	D	0.85509	0.5713	M	0.83953	2.67	0.80722	D	1	B;D	0.58620	0.126;0.983	B;D	0.63488	0.172;0.915	D	0.86466	0.1782	9	0.87932	D	0	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	121;141	C9JMZ0;F8W7V7	.;.	K	141;121;121;121	ENSP00000340874:E141K;ENSP00000389610:E121K;ENSP00000423826:E121K;ENSP00000423656:E121K	ENSP00000340874:E141K	E	-	1	0	MEF2C	88092596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.786000	0.95864	0.563000	0.77884	GAA		0.393	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
LYSMD3	116068	broad.mit.edu	37	5	89815112	89815112	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89815112C>A	ENST00000315948.6	-	3	589	c.445G>T	c.(445-447)Gat>Tat	p.D149Y	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	149						integral component of membrane (GO:0016021)		p.D149Y(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GCAAGAGAATCATTAGCTGGC	0.393																																					p.D149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445T	5						.						134.0	128.0	130.0					5																	89815112		1857	4092	5949	89850868	SO:0001583	missense	116068	exon3			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.445G>T	5.37:g.89815112C>A	ENSP00000314518:p.Asp149Tyr		89850868	NM_198273	Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333029	0.60853	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.19532	2.14	5.73	5.73	0.89815	.	0.494876	0.23260	N	0.050152	T	0.28830	0.0715	L	0.60455	1.87	0.25033	N	0.991252	P	0.49447	0.924	P	0.46362	0.514	T	0.22765	-1.0207	10	0.66056	D	0.02	-8.5873	13.5583	0.61773	0.0:0.9195:0.0:0.0805	.	149	Q7Z3D4	LYSM3_HUMAN	Y	149	ENSP00000314518:D149Y	ENSP00000314518:D149Y	D	-	1	0	AC027323.1;LYSMD3	89850868	1.000000	0.71417	0.074000	0.20217	0.903000	0.53119	5.404000	0.66344	2.692000	0.91855	0.591000	0.81541	GAT		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760	
GPR98	84059	broad.mit.edu	37	5	89914926	89914926	+	Silent	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89914926T>C	ENST00000405460.2	+	4	477	c.381T>C	c.(379-381)ctT>ctC	p.L127L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	127			L -> R (in dbSNP:rs41311333). {ECO:0000269|PubMed:14740321}.		detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L127L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTGAAGCTTGGATGGCCAA	0.249																																					p.L127L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T381C	5						.						39.0	36.0	37.0					5																	89914926		1803	4067	5870	89950682	SO:0001819	synonymous_variant	84059	exon4			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.381T>C	5.37:g.89914926T>C			89950682	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.249	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89923401	89923401	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89923401A>G	ENST00000405460.2	+	7	1142	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	349	Calx-beta 3. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D349G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGTTGATGACACCATACCG	0.388																																					p.D349G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1046G	5						.						175.0	169.0	171.0					5																	89923401		1887	4108	5995	89959157	SO:0001583	missense	84059	exon7			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1046A>G	5.37:g.89923401A>G	ENSP00000384582:p.Asp349Gly		89959157	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769135	0.90020	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.56611	0.45	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76487	-0.2941	10	0.87932	D	0	.	16.2365	0.82377	1.0:0.0:0.0:0.0	.	349	Q8WXG9	GPR98_HUMAN	G	349	ENSP00000384582:D349G	ENSP00000296619:D349G	D	+	2	0	GPR98	89959157	1.000000	0.71417	0.931000	0.37212	0.998000	0.95712	9.065000	0.93941	2.238000	0.73509	0.477000	0.44152	GAC		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89939793	89939793	+	Silent	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89939793C>A	ENST00000405460.2	+	14	2823	c.2727C>A	c.(2725-2727)atC>atA	p.I909I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	909	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I909I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGATGCTATCTATAGTGGTA	0.264																																					p.I909I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2727A	5						.						104.0	100.0	101.0					5																	89939793		1831	4084	5915	89975549	SO:0001819	synonymous_variant	84059	exon14			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2727C>A	5.37:g.89939793C>A			89975549	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	7.496	0.651663	0.14516	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.35	1.18	0.20946	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	.	6.9834	0.24715	0.2215:0.6054:0.1036:0.0695	.	.	.	.	I	498	.	.	L	+	1	2	GPR98	89975549	0.008000	0.16893	0.002000	0.10522	0.335000	0.28730	0.408000	0.21065	0.619000	0.30197	0.655000	0.94253	CTA		0.264	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89949598	89949598	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89949598T>G	ENST00000405460.2	+	20	4303	c.4207T>G	c.(4207-4209)Ttg>Gtg	p.L1403V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1403					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L1403V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTATAAAACCTTGGGTTCCAA	0.368																																					p.L1403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4207G	5						.						103.0	94.0	97.0					5																	89949598		1867	4103	5970	89985354	SO:0001583	missense	84059	exon20			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4207T>G	5.37:g.89949598T>G	ENSP00000384582:p.Leu1403Val		89985354	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.581|9.581	1.123560|1.123560	0.20959|0.20959	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.73152	.|-0.72	5.48|5.48	-2.78|-2.78	0.05859|0.05859	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.376030|0.376030	0.28042|0.28042	N|N	0.016829|0.016829	T|T	0.58250|0.58250	0.2109|0.2109	N|N	0.25647|0.25647	0.755|0.755	0.35547|0.35547	D|D	0.803572|0.803572	.|P	.|0.45531	.|0.86	.|P	.|0.49799	.|0.622	T|T	0.60850|0.60850	-0.7181|-0.7181	6|10	.|0.17832	.|T	.|0.49	.|.	10.383|10.383	0.44123|0.44123	0.0922:0.4905:0.0:0.4173|0.0922:0.4905:0.0:0.4173	.|.	.|1403	.|Q8WXG9	.|GPR98_HUMAN	R|V	991|1403	.|ENSP00000384582:L1403V	.|ENSP00000296619:L1403V	L|L	+|+	2|1	0|2	GPR98|GPR98	89985354|89985354	0.000000|0.000000	0.05858|0.05858	0.849000|0.849000	0.33467|0.33467	0.596000|0.596000	0.36781|0.36781	-0.392000|-0.392000	0.07314|0.07314	-0.781000|-0.781000	0.04548|0.04548	-2.229000|-2.229000	0.00292|0.00292	CTT|TTG		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89971992	89971992	+	Silent	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89971992T>G	ENST00000405460.2	+	25	5505	c.5409T>G	c.(5407-5409)tcT>tcG	p.S1803S	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1803	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1803S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGAAAAATCTTTTAAAGTTG	0.333																																					p.S1803S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T5409G	5						.						44.0	43.0	44.0					5																	89971992		1812	4059	5871	90007748	SO:0001819	synonymous_variant	84059	exon25			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5409T>G	5.37:g.89971992T>G			90007748	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	89990027	89990027	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:89990027A>G	ENST00000405460.2	+	33	7550	c.7454A>G	c.(7453-7455)aAc>aGc	p.N2485S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2485	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N2485S(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACAGGAAAAACATGACCAGG	0.478																																					p.N2485S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7454G	5						.						75.0	74.0	74.0					5																	89990027		1949	4148	6097	90025783	SO:0001583	missense	84059	exon33			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7454A>G	5.37:g.89990027A>G	ENSP00000384582:p.Asn2485Ser		90025783	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.8|23.8	4.455096|4.455096	0.84209|0.84209	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.34275|.	1.37|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73536|0.73536	0.3599|0.3599	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.979;0.997|.	T|T	0.72750|0.72750	-0.4199|-0.4199	10|5	0.56958|.	D|.	0.05|.	.|.	16.3526|16.3526	0.83220|0.83220	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2485;2485|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	S|A	2485|51	ENSP00000384582:N2485S|.	ENSP00000296619:N2485S|.	N|T	+|+	2|1	0|0	GPR98|GPR98	90025783|90025783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.108000|9.108000	0.94275|0.94275	2.255000|2.255000	0.74692|0.74692	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.478	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90052805	90052805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90052805G>T	ENST00000405460.2	+	57	11863	c.11767G>T	c.(11767-11769)Gaa>Taa	p.E3923*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3923	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E3923*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGCGCTGGGGAAGTTATTAC	0.393																																					p.E3923X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G11767T	5						.						83.0	80.0	81.0					5																	90052805		1843	4082	5925	90088561	SO:0001587	stop_gained	84059	exon57			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11767G>T	5.37:g.90052805G>T	ENSP00000384582:p.Glu3923*		90088561	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	52	18.968330	0.99913	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	.	.	.	5.3	5.3	0.74995	.	0.048550	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.3121	0.94192	0.0:0.0:1.0:0.0	.	.	.	.	X	3923	.	ENSP00000296619:E3923X	E	+	1	0	GPR98	90088561	1.000000	0.71417	0.387000	0.26183	0.032000	0.12392	5.379000	0.66196	2.636000	0.89361	0.467000	0.42956	GAA		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90072290	90072290	+	Missense_Mutation	SNP	C	C	T	rs534226753		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90072290C>T	ENST00000405460.2	+	61	12520	c.12424C>T	c.(12424-12426)Cgg>Tgg	p.R4142W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4142	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R4142W(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATAATTATTCGGGGTGATAA	0.418																																					p.R4142W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C12424T	5						.						104.0	103.0	104.0					5																	90072290		1922	4129	6051	90108046	SO:0001583	missense	84059	exon61			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12424C>T	5.37:g.90072290C>T	ENSP00000384582:p.Arg4142Trp		90108046	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268763	0.40095	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.28069	1.63	5.27	4.37	0.52481	.	0.316290	0.31199	N	0.008073	T	0.33644	0.0870	L	0.50333	1.59	0.18873	N	0.999989	D	0.69078	0.997	P	0.50490	0.642	T	0.21449	-1.0245	10	0.62326	D	0.03	.	7.0323	0.24975	0.4295:0.491:0.0:0.0796	.	4142	Q8WXG9	GPR98_HUMAN	W	4142	ENSP00000384582:R4142W	ENSP00000296619:R4142W	R	+	1	2	GPR98	90108046	0.000000	0.05858	0.644000	0.29465	0.157000	0.22087	0.055000	0.14229	1.287000	0.44583	0.637000	0.83480	CGG		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90078991	90078991	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90078991A>C	ENST00000405460.2	+	66	13378	c.13282A>C	c.(13282-13284)Act>Cct	p.T4428P	GPR98_ENST00000425867.2_Missense_Mutation_p.T89P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4428	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T4428P(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTACATGGAACTTATGGCTA	0.468																																					p.T4428P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13282C	5						.						208.0	204.0	206.0					5																	90078991		2042	4201	6243	90114747	SO:0001583	missense	84059	exon66			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13282A>C	5.37:g.90078991A>C	ENSP00000384582:p.Thr4428Pro		90114747	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	9.985	1.229172	0.22542	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.32023	1.47;1.47	6.17	2.47	0.30058	Na-Ca exchanger/integrin-beta4 (2);	0.442010	0.27000	N	0.021429	T	0.35913	0.0948	M	0.66506	2.035	0.09310	N	1	P;P;P	0.47484	0.896;0.896;0.874	P;B;B	0.46629	0.522;0.399;0.277	T	0.18366	-1.0339	10	0.54805	T	0.06	.	10.2435	0.43328	0.8118:0.0:0.1882:0.0	.	89;4428;89	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	P	4428;4428;89	ENSP00000384582:T4428P;ENSP00000392618:T89P	ENSP00000296619:T4428P	T	+	1	0	GPR98	90114747	0.066000	0.20996	0.017000	0.16124	0.017000	0.09413	1.820000	0.39032	0.562000	0.29204	0.533000	0.62120	ACT		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90106345	90106345	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90106345T>A	ENST00000405460.2	+	74	15364	c.15268T>A	c.(15268-15270)Ttt>Att	p.F5090I	GPR98_ENST00000425867.2_Missense_Mutation_p.F751I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5090	Calx-beta 33. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F5090I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGAATTTTTTTACATTAA	0.338																																					p.F5090I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T15268A	5						.						63.0	64.0	64.0					5																	90106345		1805	4072	5877	90142101	SO:0001583	missense	84059	exon74			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15268T>A	5.37:g.90106345T>A	ENSP00000384582:p.Phe5090Ile		90142101	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327201	0.60743	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.57273	0.41;0.41	5.37	5.37	0.77165	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	M	0.89968	3.075	0.43385	D	0.995494	D;D;D	0.89917	0.993;1.0;0.992	D;D;P	0.75484	0.912;0.986;0.856	T	0.82386	-0.0483	9	.	.	.	.	15.6665	0.77234	0.0:0.0:0.0:1.0	.	751;5090;751	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5090;5090;751	ENSP00000384582:F5090I;ENSP00000392618:F751I	.	F	+	1	0	GPR98	90142101	1.000000	0.71417	0.891000	0.34965	0.212000	0.24457	7.043000	0.76572	2.164000	0.68074	0.460000	0.39030	TTT		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90149337	90149337	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90149337C>T	ENST00000405460.2	+	80	17537	c.17441C>T	c.(17440-17442)aCc>aTc	p.T5814I	GPR98_ENST00000425867.2_Missense_Mutation_p.T1475I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5814					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.T5814I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCTTCCTACCCTAAAAAAT	0.358																																					p.T5814I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17441T	5						.						50.0	47.0	48.0					5																	90149337		1840	4088	5928	90185093	SO:0001583	missense	84059	exon80			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17441C>T	5.37:g.90149337C>T	ENSP00000384582:p.Thr5814Ile		90185093	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877189	0.17395	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27402	1.73;1.67	5.26	5.26	0.73747	.	0.198994	0.53938	D	0.000059	T	0.13756	0.0333	N	0.03608	-0.345	0.26765	N	0.969912	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.06405	0.001;0.001;0.002	T	0.14643	-1.0465	9	.	.	.	.	12.58	0.56386	0.0:0.9234:0.0:0.0766	.	1475;5814;1475	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5814;5814;1475	ENSP00000384582:T5814I;ENSP00000392618:T1475I	.	T	+	2	0	GPR98	90185093	0.997000	0.39634	0.594000	0.28785	0.088000	0.18126	4.001000	0.57046	2.594000	0.87642	0.650000	0.86243	ACC		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ARRDC3	57561	broad.mit.edu	37	5	90669530	90669530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:90669530G>A	ENST00000265138.3	-	7	1425	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	387					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.R387*(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGCAAGAATCGAAACTCCTGG	0.423																																					p.R387X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1159T	5						.						148.0	134.0	139.0					5																	90669530		2203	4300	6503	90705286	SO:0001587	stop_gained	57561	exon7			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.1159C>T	5.37:g.90669530G>A	ENSP00000265138:p.Arg387*		90705286	NM_020801	A8K6T8|Q9P2H1	Nonsense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	40	8.246455	0.98724	.	.	ENSG00000113369	ENST00000265138	.	.	.	5.86	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.7881	14.5387	0.67979	0.0:0.0:0.7334:0.2665	.	.	.	.	X	387	.	ENSP00000265138:R387X	R	-	1	2	ARRDC3	90705286	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.857000	0.48349	1.443000	0.47586	0.650000	0.86243	CGA		0.423	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
NR2F1	7025	broad.mit.edu	37	5	92924063	92924063	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:92924063T>G	ENST00000327111.3	+	2	2591	c.904T>G	c.(904-906)Ttc>Gtc	p.F302V	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	302					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F302V(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CATCCGCATCTTCCAGGAGCA	0.647																																					p.F302V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T904G	5						.						39.0	40.0	40.0					5																	92924063		2202	4300	6502	92949819	SO:0001583	missense	7025	exon2			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.904T>G	5.37:g.92924063T>G	ENSP00000325819:p.Phe302Val		92949819	NM_005654		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622557	0.87460	.	.	ENSG00000175745	ENST00000327111	D	0.96459	-4.02	4.12	2.96	0.34315	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.112601	0.64402	D	0.000009	D	0.96231	0.8771	M	0.68317	2.08	0.80722	D	1	P	0.48640	0.913	P	0.54100	0.742	D	0.95001	0.8143	10	0.87932	D	0	.	8.8128	0.34978	0.0:0.092:0.0:0.908	.	302	P10589	COT1_HUMAN	V	302	ENSP00000325819:F302V	ENSP00000325819:F302V	F	+	1	0	NR2F1	92949819	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.005000	0.70716	0.632000	0.30432	0.260000	0.18958	TTC		0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
POU5F2	134187	broad.mit.edu	37	5	93077210	93077210	+	Silent	SNP	G	G	A	rs369781509		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:93077210G>A	ENST00000510627.4	-	1	133	c.60C>T	c.(58-60)ggC>ggT	p.G20G	FAM172A_ENST00000505869.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'Flank	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GCCCTCTGGGGCCGCCCCCAC	0.682																																					p.G20G												.	.	0			c.C60T	5						.	T	,,,	0,3780		0,0,1890	13.0	16.0	15.0		,,,60	-4.1	0.0	5		15	1,8199		0,1,4099	no	intron,intron,intron,coding-synonymous	FAM172A,POU5F2	NM_001163417.1,NM_001163418.1,NM_032042.5,NM_153216.1	,,,	0,1,5989	AA,AG,GG		0.0122,0.0,0.0083	,,,	,,,20/329	93077210	1,11979	1890	4100	5990	93102966	SO:0001819	synonymous_variant	134187	exon1				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.60C>T	5.37:g.93077210G>A			93102966	NM_153216	Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																				0.682	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216	
FAM172A	83989	broad.mit.edu	37	5	93410400	93410400	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:93410400T>G	ENST00000395965.3	-	2	199	c.57A>C	c.(55-57)caA>caC	p.Q19H	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000504768.2_5'UTR	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	19						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.Q19H(1)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CCTGCTGGATTTGTGCCATGT	0.348																																					p.Q19H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A57C	5						.						129.0	118.0	122.0					5																	93410400		2203	4300	6503	93436156	SO:0001583	missense	83989	exon2				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.57A>C	5.37:g.93410400T>G	ENSP00000379294:p.Gln19His		93436156	NM_032042	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	ENST00000395965.3	37	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545361	0.65198	.	.	ENSG00000113391	ENST00000395965	T	0.48836	0.8	5.87	0.565	0.17309	.	0.283030	0.39985	N	0.001202	T	0.35038	0.0918	L	0.54323	1.7	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.15009	-1.0452	10	0.56958	D	0.05	-1.5904	2.8534	0.05564	0.1369:0.0754:0.2849:0.5028	.	19;19	Q8WUF8;Q8WUF8-2	F172A_HUMAN;.	H	19	ENSP00000379294:Q19H	ENSP00000379294:Q19H	Q	-	3	2	FAM172A	93436156	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	-0.147000	0.10234	0.083000	0.17047	0.528000	0.53228	CAA		0.348	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042	
MCTP1	79772	broad.mit.edu	37	5	94046581	94046581	+	Silent	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94046581G>T	ENST00000515393.1	-	21	2771	c.2772C>A	c.(2770-2772)ctC>ctA	p.L924L	MCTP1_ENST00000505078.1_Silent_p.L440L|MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Silent_p.L703L|MCTP1_ENST00000429576.2_Silent_p.L617L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	924					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.L924L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGAACACACAGAGGGCTACAA	0.463																																					p.L703L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2109A	5						.						97.0	82.0	88.0					5																	94046581		2203	4300	6503	94072337	SO:0001819	synonymous_variant	79772	exon21				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2772C>A	5.37:g.94046581G>T			94072337	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1																																																																																				0.463	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
MCTP1	79772	broad.mit.edu	37	5	94244987	94244987	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94244987C>A	ENST00000515393.1	-	10	1620	c.1621G>T	c.(1621-1623)Gat>Tat	p.D541Y	MCTP1_ENST00000505208.1_Missense_Mutation_p.D320Y|MCTP1_ENST00000505078.1_Missense_Mutation_p.D57Y|MCTP1_ENST00000312216.8_Missense_Mutation_p.D320Y|MCTP1_ENST00000429576.2_Missense_Mutation_p.D274Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	541	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D541Y(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTCCCAGCATCTTTGTCCCAT	0.373																																					p.D320Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958T	5						.						88.0	83.0	85.0					5																	94244987		2203	4299	6502	94270743	SO:0001583	missense	79772	exon10				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1621G>T	5.37:g.94244987C>A	ENSP00000424126:p.Asp541Tyr		94270743	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660030	0.88154	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;D;T;T;D;T;T;D	0.83335	0.53;-1.71;0.53;0.53;-1.71;0.53;0.53;-1.71	5.68	5.68	0.88126	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	H	0.98466	4.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96383	0.9283	10	0.59425	D	0.04	-16.6365	19.7934	0.96469	0.0:1.0:0.0:0.0	.	541;274;320	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	Y	541;274;57;320;261;202;320;142	ENSP00000424126:D541Y;ENSP00000391639:D274Y;ENSP00000426417:D57Y;ENSP00000308957:D320Y;ENSP00000423410:D261Y;ENSP00000431075:D202Y;ENSP00000426438:D320Y;ENSP00000426294:D142Y	ENSP00000308957:D320Y	D	-	1	0	MCTP1	94270743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.678000	0.91216	0.585000	0.79938	GAT		0.373	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
MCTP1	79772	broad.mit.edu	37	5	94353134	94353134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94353134C>A	ENST00000515393.1	-	2	774	c.775G>T	c.(775-777)Gga>Tga	p.G259*	MCTP1_ENST00000505208.1_Nonsense_Mutation_p.G38*|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.G38*|MCTP1_ENST00000429576.2_Nonsense_Mutation_p.G38*	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	259	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G259*(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGGTACATTCCGGGATCAGCC	0.378																																					p.G38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G112T	5						.						133.0	125.0	127.0					5																	94353134		2203	4300	6503	94378890	SO:0001587	stop_gained	79772	exon2				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.775G>T	5.37:g.94353134C>A	ENSP00000424126:p.Gly259*		94378890	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Nonsense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.713891|6.713891	0.97784|0.97784	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465|ENST00000503301	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.177619|.	0.36703|.	N|.	0.002454|.	.|T	.|0.73552	.|0.3601	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72221	.|-0.4356	.|3	0.15499|.	T|.	0.54|.	-10.6333|-10.6333	16.9518|16.9518	0.86247|0.86247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	259;38;38;38;38;20;19;53;38|67	.|.	ENSP00000308957:G38X|.	G|R	-|-	1|2	0|0	MCTP1|MCTP1	94378890|94378890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.856000|2.856000	0.48341|0.48341	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.378	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
FAM81B	153643	broad.mit.edu	37	5	94727125	94727125	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94727125C>T	ENST00000283357.5	+	1	78	c.32C>T	c.(31-33)tCc>tTc	p.S11F		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	11						nucleus (GO:0005634)		p.S11F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ACATTGGCTTCCTCAGAAAAA	0.373																																					p.S11F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C32T	5						.						98.0	96.0	97.0					5																	94727125		1831	4084	5915	94752881	SO:0001583	missense	153643	exon1				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.32C>T	5.37:g.94727125C>T	ENSP00000283357:p.Ser11Phe		94752881	NM_152548		Missense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102661	0.20632	.	.	ENSG00000153347	ENST00000283357	T	0.22336	1.96	4.83	2.31	0.28768	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	9	0.16420	T	0.52	.	3.3556	0.07168	0.1999:0.1101:0.0:0.69	.	11	Q96LP2	FA81B_HUMAN	F	11	ENSP00000283357:S11F	ENSP00000283357:S11F	S	+	2	0	FAM81B	94752881	0.530000	0.26330	0.231000	0.23993	0.006000	0.05464	0.324000	0.19610	0.978000	0.38470	-0.471000	0.05019	TCC		0.373	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
FAM81B	153643	broad.mit.edu	37	5	94749805	94749805	+	Nonsense_Mutation	SNP	C	C	T	rs10042271		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94749805C>T	ENST00000283357.5	+	4	494	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	150			R -> G (in dbSNP:rs10042271).			nucleus (GO:0005634)		p.R150*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CCATGGCTTTCGAAAAGAGGA	0.498																																					p.R150X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C448T	5						.						96.0	96.0	96.0					5																	94749805		1981	4166	6147	94775561	SO:0001587	stop_gained	153643	exon4				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.448C>T	5.37:g.94749805C>T	ENSP00000283357:p.Arg150*		94775561	NM_152548		Nonsense_Mutation	SNP	ENST00000283357.5	37	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117742	0.37339	.	.	ENSG00000153347	ENST00000283357	.	.	.	5.53	3.68	0.42216	.	0.995025	0.08161	N	0.988427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	0.0016	12.0124	0.53295	0.3143:0.6857:0.0:0.0	.	.	.	.	X	150	.	ENSP00000283357:R150X	R	+	1	2	FAM81B	94775561	0.328000	0.24687	0.589000	0.28718	0.015000	0.08874	0.844000	0.27654	0.635000	0.30488	0.650000	0.86243	CGA		0.498	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
FAM81B	153643	broad.mit.edu	37	5	94782293	94782293	+	Silent	SNP	C	C	T	rs200384844	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94782293C>T	ENST00000283357.5	+	8	967	c.921C>T	c.(919-921)taC>taT	p.Y307Y		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	307						nucleus (GO:0005634)		p.Y307Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GTAATCTGTACGAAGAAGTTG	0.284													T|||	4	0.000798722	0.0015	0.0	5008	,	,		17341	0.001		0.001	False		,,,				2504	0.0				p.Y307Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	5						.	T		7,3573		0,7,1783	32.0	30.0	31.0		921	1.7	0.2	5		31	3,8127		0,3,4062	no	coding-synonymous	FAM81B	NM_152548.2		0,10,5845	TT,TC,CC		0.0369,0.1955,0.0854		307/453	94782293	10,11700	1790	4065	5855	94808049	SO:0001819	synonymous_variant	153643	exon8				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.921C>T	5.37:g.94782293C>T			94808049	NM_152548		Silent	SNP	ENST00000283357.5	37	CCDS43341.1																																																																																				0.284	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
ARSK	153642	broad.mit.edu	37	5	94918883	94918883	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94918883C>A	ENST00000380009.4	+	4	885	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	227					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.S227Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTTCACACATCTCTTTATTGG	0.318																																					p.S227Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680A	5						.						63.0	65.0	64.0					5																	94918883		2203	4299	6502	94944639	SO:0001583	missense	153642	exon4				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.680C>A	5.37:g.94918883C>A	ENSP00000369346:p.Ser227Tyr		94944639	NM_198150	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447463	0.84101	.	.	ENSG00000164291	ENST00000380009	D	0.99900	-7.63	5.81	5.81	0.92471	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	M	0.83603	2.65	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	D	0.96747	0.9551	10	0.72032	D	0.01	-23.7996	20.0795	0.97766	0.0:1.0:0.0:0.0	.	227	Q6UWY0	ARSK_HUMAN	Y	227	ENSP00000369346:S227Y	ENSP00000369346:S227Y	S	+	2	0	ARSK	94944639	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.085000	0.76875	2.747000	0.94245	0.650000	0.86243	TCT		0.318	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	
ARSK	153642	broad.mit.edu	37	5	94927300	94927300	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94927300C>A	ENST00000380009.4	+	6	1272	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	356					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.S356Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATGTGGTTTCTCTTGTGGAT	0.383																																					p.S356Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1067A	5						.						183.0	190.0	188.0					5																	94927300		2203	4300	6503	94953056	SO:0001583	missense	153642	exon6				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1067C>A	5.37:g.94927300C>A	ENSP00000369346:p.Ser356Tyr		94953056	NM_198150	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585543	0.86748	.	.	ENSG00000164291	ENST00000380009	D	0.99201	-5.55	5.84	5.84	0.93424	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99466	1.0944	10	0.87932	D	0	-23.683	20.142	0.98061	0.0:1.0:0.0:0.0	.	356	Q6UWY0	ARSK_HUMAN	Y	356	ENSP00000369346:S356Y	ENSP00000369346:S356Y	S	+	2	0	ARSK	94953056	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.484000	0.81180	2.754000	0.94517	0.655000	0.94253	TCT		0.383	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	
ARSK	153642	broad.mit.edu	37	5	94936591	94936591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94936591C>A	ENST00000380009.4	+	7	1342	c.1137C>A	c.(1135-1137)taC>taA	p.Y379*		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	379					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.Y379*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGAGTGGATACTCTTTGTTGC	0.348																																					p.Y379X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1137A	5						.						147.0	143.0	144.0					5																	94936591		2203	4300	6503	94962347	SO:0001587	stop_gained	153642	exon7				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1137C>A	5.37:g.94936591C>A	ENSP00000369346:p.Tyr379*		94962347	NM_198150	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Nonsense_Mutation	SNP	ENST00000380009.4	37	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895843	0.97081	.	.	ENSG00000164291	ENST00000380009	.	.	.	5.73	3.62	0.41486	.	0.190626	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3943	8.9963	0.36055	0.0:0.6856:0.0:0.3144	.	.	.	.	X	379	.	ENSP00000369346:Y379X	Y	+	3	2	ARSK	94962347	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	0.716000	0.25836	0.784000	0.33661	-0.813000	0.03139	TAC		0.348	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150	
RFESD	317671	broad.mit.edu	37	5	94992003	94992003	+	Missense_Mutation	SNP	G	G	T	rs557639186		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:94992003G>T	ENST00000311364.4	+	5	1881	c.464G>T	c.(463-465)aGt>aTt	p.S155I	RFESD_ENST00000513950.2_3'UTR|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.S208I|RFESD_ENST00000458310.1_Missense_Mutation_p.S208I	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	155							2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.S155I(1)|p.S208I(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		GTAATTAAGAGTTCTTCCTGA	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		16626	0.0		0.0	False		,,,				2504	0.001				p.S208I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G623T	5						.						42.0	51.0	48.0					5																	94992003		2202	4296	6498	95017759	SO:0001583	missense	317671	exon6			BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.464G>T	5.37:g.94992003G>T	ENSP00000309229:p.Ser155Ile		95017759	NM_001131065	J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725665	0.30593	.	.	ENSG00000175449	ENST00000380005;ENST00000311364;ENST00000458310	.	.	.	5.38	3.46	0.39613	.	0.427224	0.26658	N	0.023170	T	0.30759	0.0775	N	0.22421	0.69	0.37091	D	0.899431	B	0.06786	0.001	B	0.06405	0.002	T	0.15263	-1.0443	8	.	.	.	-16.0345	3.6484	0.08194	0.0894:0.1692:0.566:0.1754	.	155	Q8TAC1	RFESD_HUMAN	I	208;155;208	.	.	S	+	2	0	RFESD	95017759	0.013000	0.17824	0.972000	0.41901	0.710000	0.40934	0.084000	0.14891	1.249000	0.43950	0.467000	0.42956	AGT		0.294	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1	NM_173362	
RHOBTB3	22836	broad.mit.edu	37	5	95091379	95091379	+	Missense_Mutation	SNP	C	C	A	rs528922224		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95091379C>A	ENST00000379982.3	+	6	1470	c.962C>A	c.(961-963)tCt>tAt	p.S321Y	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	321	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.S321Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGCCATGAATCTTCAGGCAAC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18927	0.0		0.0	False		,,,				2504	0.001				p.S321Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C962A	5						.						132.0	128.0	129.0					5																	95091379		2203	4300	6503	95117135	SO:0001583	missense	22836	exon6			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.962C>A	5.37:g.95091379C>A	ENSP00000369318:p.Ser321Tyr		95117135	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940033	0.34283	.	.	ENSG00000164292	ENST00000379982	T	0.70749	-0.51	6.08	5.21	0.72293	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (1);	0.428168	0.27971	N	0.017116	T	0.57227	0.2039	N	0.14661	0.345	0.58432	D	0.999997	B	0.24721	0.11	B	0.29267	0.1	T	0.57906	-0.7730	10	0.62326	D	0.03	-3.1792	14.4997	0.67711	0.0:0.9296:0.0:0.0704	.	321	O94955	RHBT3_HUMAN	Y	321	ENSP00000369318:S321Y	ENSP00000369318:S321Y	S	+	2	0	RHOBTB3	95117135	0.013000	0.17824	0.009000	0.14445	0.462000	0.32619	2.576000	0.46033	2.894000	0.99253	0.591000	0.81541	TCT		0.423	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	
RHOBTB3	22836	broad.mit.edu	37	5	95099241	95099241	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95099241G>T	ENST00000379982.3	+	7	1586	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	360					ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.D360Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTGGAAGAAGATATCAGGAA	0.318																																					p.D360Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078T	5						.						93.0	98.0	96.0					5																	95099241		2203	4297	6500	95124997	SO:0001583	missense	22836	exon7			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1078G>T	5.37:g.95099241G>T	ENSP00000369318:p.Asp360Tyr		95124997	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912343	0.52439	.	.	ENSG00000164292	ENST00000379982	T	0.65916	-0.18	5.48	5.48	0.80851	BTB/POZ-like (1);	0.162902	0.53938	D	0.000043	T	0.47600	0.1454	N	0.24115	0.695	0.80722	D	1	P	0.35612	0.512	B	0.31390	0.129	T	0.53592	-0.8417	10	0.59425	D	0.04	-19.2992	14.0718	0.64865	0.0:0.2723:0.7277:0.0	.	360	O94955	RHBT3_HUMAN	Y	360	ENSP00000369318:D360Y	ENSP00000369318:D360Y	D	+	1	0	RHOBTB3	95124997	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.132000	0.42083	2.572000	0.86782	0.655000	0.94253	GAT		0.318	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	
RHOBTB3	22836	broad.mit.edu	37	5	95128802	95128802	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95128802C>T	ENST00000379982.3	+	12	2268	c.1760C>T	c.(1759-1761)tCg>tTg	p.S587L	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.S218L|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	587	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)	p.S587L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AGATGGCCGTCGAATATGTAC	0.363																																					p.S587L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1760T	5						.						127.0	123.0	124.0					5																	95128802		2203	4300	6503	95154558	SO:0001583	missense	22836	exon12			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1760C>T	5.37:g.95128802C>T	ENSP00000369318:p.Ser587Leu		95154558	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771549	0.90108	.	.	ENSG00000164292	ENST00000379982;ENST00000504179;ENST00000514198	T;T	0.75260	-0.23;-0.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	P	0.56474	0.799	T	0.81752	-0.0789	10	0.87932	D	0	-11.855	20.4745	0.99168	0.0:1.0:0.0:0.0	.	587	O94955	RHBT3_HUMAN	L	587;218;33	ENSP00000369318:S587L;ENSP00000422360:S218L	ENSP00000369318:S587L	S	+	2	0	RHOBTB3	95154558	1.000000	0.71417	0.977000	0.42913	0.942000	0.58702	6.322000	0.72886	2.941000	0.99782	0.655000	0.94253	TCG		0.363	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	
GLRX	2745	broad.mit.edu	37	5	95158187	95158187	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95158187A>C	ENST00000379979.4	-	1	231	c.180T>G	c.(178-180)taT>taG	p.Y60*	GLRX_ENST00000508780.1_Nonsense_Mutation_p.Y60*|GLRX_ENST00000507605.1_5'Flank|GLRX_ENST00000237858.6_Nonsense_Mutation_p.Y60*|GLRX_ENST00000505427.1_Nonsense_Mutation_p.Y60*|GLRX_ENST00000512469.2_Nonsense_Mutation_p.Y60*	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	60	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)	p.Y60*(1)		endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GCTGTTGCAAATAATCTTGAA	0.473																																					p.Y60X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T180G	5						.						173.0	156.0	162.0					5																	95158187		2203	4300	6503	95183943	SO:0001587	stop_gained	2745	exon1				CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.180T>G	5.37:g.95158187A>C	ENSP00000369314:p.Tyr60*		95183943	NM_002064	B2R4L2|Q3KQS1|Q6ICT1	Nonsense_Mutation	SNP	ENST00000379979.4	37	CCDS4078.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495761	0.85069	.	.	ENSG00000173221	ENST00000508780;ENST00000237858;ENST00000379979;ENST00000505427;ENST00000512469	.	.	.	5.15	1.37	0.22104	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5312	6.9061	0.24309	0.7265:0.0:0.2735:0.0	.	.	.	.	X	60	.	ENSP00000237858:Y60X	Y	-	3	2	GLRX	95183943	0.876000	0.30132	0.495000	0.27527	0.611000	0.37282	0.475000	0.22164	0.087000	0.17167	0.482000	0.46254	TAT		0.473	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1	NM_002064	
ELL2	22936	broad.mit.edu	37	5	95226885	95226885	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95226885C>A	ENST00000237853.4	-	10	2032	c.1683G>T	c.(1681-1683)agG>agT	p.R561S	ELL2_ENST00000431061.2_Missense_Mutation_p.R311S	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	561					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R561S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CAGTCTCCATCCTGGCATGCA	0.388																																					p.R561S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1683T	5						.						184.0	176.0	179.0					5																	95226885		2203	4300	6503	95252641	SO:0001583	missense	22936	exon10			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1683G>T	5.37:g.95226885C>A	ENSP00000237853:p.Arg561Ser		95252641	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.790361|3.790361	0.70337|0.70337	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000508757|ENST00000237853;ENST00000431061	.|T;T	.|0.23552	.|1.9;1.9	5.96|5.96	-0.101|-0.101	0.13618|0.13618	.|Occludin/RNA polymerase II elongation factor, ELL domain (1);	.|0.132802	.|0.64402	.|D	.|0.000002	T|T	0.34919|0.34919	0.0914|0.0914	M|M	0.74881|0.74881	2.28|2.28	0.49915|0.49915	D|D	0.999835|0.999835	.|P	.|0.50156	.|0.932	.|P	.|0.51945	.|0.685	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.87932	.|D	.|0	-5.9241|-5.9241	7.1241|7.1241	0.25461|0.25461	0.0:0.3842:0.1182:0.4976|0.0:0.3842:0.1182:0.4976	.|.	.|561	.|O00472	.|ELL2_HUMAN	V|S	79|561;311	.|ENSP00000237853:R561S;ENSP00000399704:R311S	.|ENSP00000237853:R561S	G|R	-|-	2|3	0|2	ELL2|ELL2	95252641|95252641	0.229000|0.229000	0.23729|0.23729	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	-0.412000|-0.412000	0.07132|0.07132	-0.099000|-0.099000	0.12263|0.12263	-0.142000|-0.142000	0.14014|0.14014	GGA|AGG		0.388	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
PCSK1	5122	broad.mit.edu	37	5	95735803	95735803	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:95735803C>A	ENST00000311106.3	-	10	1521	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	PCSK1_ENST00000508626.1_Missense_Mutation_p.K381N|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	428	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.K428N(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGCTCCATTCTTTTTCCATC	0.527																																					p.K381N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1143T	5						.						120.0	117.0	118.0					5																	95735803		2203	4300	6503	95761559	SO:0001583	missense	5122	exon10				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1284G>T	5.37:g.95735803C>A	ENSP00000308024:p.Lys428Asn		95761559	NM_001177875	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453288	0.63290	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.88124	-2.34;-2.34	5.35	4.49	0.54785	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.043838	0.85682	D	0.000000	D	0.88691	0.6505	L	0.52573	1.65	0.47476	D	0.999431	P;D	0.56287	0.627;0.975	P;P	0.60886	0.449;0.88	D	0.86025	0.1509	10	0.27785	T	0.31	-18.9402	10.076	0.42360	0.0:0.8451:0.0:0.1549	.	381;428	E9PHA1;P29120	.;NEC1_HUMAN	N	428;381	ENSP00000308024:K428N;ENSP00000421600:K381N	ENSP00000308024:K428N	K	-	3	2	PCSK1	95761559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.125000	0.31332	1.392000	0.46585	0.557000	0.71058	AAG		0.527	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
ERAP1	51752	broad.mit.edu	37	5	96118783	96118783	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96118783T>G	ENST00000443439.2	-	15	2323	c.2257A>C	c.(2257-2259)Aag>Cag	p.K753Q	ERAP1_ENST00000296754.3_Missense_Mutation_p.K753Q|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|CTD-2260A17.1_ENST00000602972.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	753					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.K753Q(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TCCTTCCACTTTCTGAAATAG	0.458																																					p.K753Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2257C	5						.						129.0	119.0	122.0					5																	96118783		2203	4300	6503	96144539	SO:0001583	missense	51752	exon15			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2257A>C	5.37:g.96118783T>G	ENSP00000406304:p.Lys753Gln		96144539	NM_001040458	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	T	5.663	0.306931	0.10733	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.05996	3.36;3.36	5.82	-3.03	0.05429	.	1.429220	0.04110	N	0.314441	T	0.02455	0.0075	N	0.10809	0.05	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.35871	-0.9771	10	0.02654	T	1	.	1.4138	0.02297	0.1194:0.2504:0.2627:0.3675	.	753;753;753	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	Q	753	ENSP00000296754:K753Q;ENSP00000406304:K753Q	ENSP00000296754:K753Q	K	-	1	0	ERAP1	96144539	0.000000	0.05858	0.007000	0.13788	0.749000	0.42624	-0.909000	0.04058	-0.238000	0.09724	0.482000	0.46254	AAG		0.458	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
ERAP1	51752	broad.mit.edu	37	5	96136649	96136649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96136649G>T	ENST00000443439.2	-	3	645	c.579C>A	c.(577-579)tgC>tgA	p.C193*	ERAP1_ENST00000296754.3_Nonsense_Mutation_p.C193*	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	193					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.C193*(1)		endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTTCATCAAAGCAGGGAAAGG	0.428																																					p.C193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C579A	5						.						117.0	113.0	115.0					5																	96136649		2203	4300	6503	96162405	SO:0001587	stop_gained	51752	exon3			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.579C>A	5.37:g.96136649G>T	ENSP00000406304:p.Cys193*		96162405	NM_001040458	O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Nonsense_Mutation	SNP	ENST00000443439.2	37	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436730	0.83885	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384;ENST00000508227	.	.	.	5.72	1.38	0.22167	.	0.091135	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8896	0.35425	0.5481:0.0:0.4519:0.0	.	.	.	.	X	193;193;193;5	.	ENSP00000296754:C193X	C	-	3	2	ERAP1	96162405	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.694000	0.25512	0.167000	0.19631	0.655000	0.94253	TGC		0.428	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442	
ERAP2	64167	broad.mit.edu	37	5	96228110	96228110	+	Missense_Mutation	SNP	G	G	A	rs200808443		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96228110G>A	ENST00000437043.3	+	6	1789	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.D315N	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	360					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D360N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTGCTTCCGATAAACTGTG	0.453																																					p.D360N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078A	5						.						126.0	112.0	117.0					5																	96228110		2203	4300	6503	96253866	SO:0001583	missense	64167	exon6			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1078G>A	5.37:g.96228110G>A	ENSP00000400376:p.Asp360Asn		96253866	NM_022350	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.696305|2.696305	0.48202|0.48202	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904|ENST00000508077	T;T;T;T|.	0.02709|.	4.19;4.19;4.19;4.19|.	4.29|4.29	2.44|2.44	0.29823|0.29823	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);|.	0.222920|.	0.34959|.	N|.	0.003559|.	T|T	0.25382|0.25382	0.0617|0.0617	L|L	0.28694|0.28694	0.88|0.88	0.20638|0.20638	N|N	0.99988|0.99988	B;B|.	0.32396|.	0.369;0.112|.	B;B|.	0.34452|.	0.163;0.183|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.02654|.	T|.	1|.	.|.	4.5257|4.5257	0.11980|0.11980	0.2776:0.1776:0.5448:0.0|0.2776:0.1776:0.5448:0.0	.|.	315;360|.	Q6P179-3;Q6P179|.	.;ERAP2_HUMAN|.	N|Q	360;360;360;315|66	ENSP00000400376:D360N;ENSP00000421175:D360N;ENSP00000421849:D360N;ENSP00000369235:D315N|.	ENSP00000369235:D315N|.	D|R	+|+	1|2	0|0	ERAP2|ERAP2	96253866|96253866	0.952000|0.952000	0.32445|0.32445	0.014000|0.014000	0.15608|0.15608	0.677000|0.677000	0.39632|0.39632	2.163000|2.163000	0.42377|0.42377	0.931000|0.931000	0.37242|0.37242	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.453	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
ERAP2	64167	broad.mit.edu	37	5	96232513	96232513	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96232513G>T	ENST00000437043.3	+	9	2160	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.K438N	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	483					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K483N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGTACTTAAAGAAGTTCAGCT	0.328																																					p.K483N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1449T	5						.						100.0	110.0	107.0					5																	96232513		2203	4298	6501	96258269	SO:0001583	missense	64167	exon9			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1449G>T	5.37:g.96232513G>T	ENSP00000400376:p.Lys483Asn		96258269	NM_022350	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.335|9.335	1.061481|1.061481	0.19987|0.19987	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000508077|ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.|T;T;T;T	.|0.05258	.|3.47;3.47;3.47;3.47	5.19|5.19	2.15|2.15	0.27550|0.27550	.|.	.|0.482284	.|0.21414	.|N	.|0.074939	.|T	.|0.04182	.|0.0116	L|L	0.28458|0.28458	0.855|0.855	0.27947|0.27947	N|N	0.937297|0.937297	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.17979	.|0.02;0.009	.|T	.|0.37731	.|-0.9693	.|10	.|0.22706	.|T	.|0.39	.|.	4.0292|4.0292	0.09701|0.09701	0.0805:0.1382:0.4977:0.2836|0.0805:0.1382:0.4977:0.2836	.|.	.|438;483	.|Q6P179-3;Q6P179	.|.;ERAP2_HUMAN	X|N	146|483;483;483;438	.|ENSP00000400376:K483N;ENSP00000421175:K483N;ENSP00000421849:K483N;ENSP00000369235:K438N	.|ENSP00000369235:K438N	E|K	+|+	1|3	0|2	ERAP2|ERAP2	96258269|96258269	0.377000|0.377000	0.25106|0.25106	0.989000|0.989000	0.46669|0.46669	0.956000|0.956000	0.61745|0.61745	0.820000|0.820000	0.27323|0.27323	0.659000|0.659000	0.30945|0.30945	0.563000|0.563000	0.77884|0.77884	GAA|AAG		0.328	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
ERAP2	64167	broad.mit.edu	37	5	96249161	96249161	+	Splice_Site	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96249161A>C	ENST00000437043.3	+	17	3368	c.2657A>C	c.(2656-2658)aAa>aCa	p.K886T	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Splice_Site_p.K841T	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	886					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K886T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTTCTGAAAAAGTTGGTATTC	0.398																																					p.K886T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2657C	5						.						51.0	48.0	49.0					5																	96249161		2203	4300	6503	96274917	SO:0001630	splice_region_variant	64167	exon17			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2657+1A>C	5.37:g.96249161A>C			96274917	NM_022350	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.45|16.45	3.126064|3.126064	0.56721|0.56721	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000512869|ENST00000437043;ENST00000379904	T|T;T	0.06371|0.07114	3.31|3.22;3.22	4.94|4.94	2.36|2.36	0.29203|0.29203	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.12987|0.12987	0.0315|0.0315	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|B;B	.|0.32396	.|0.369;0.13	.|B;B	.|0.41466	.|0.358;0.299	T|T	0.03344|0.03344	-1.1046|-1.1046	8|10	0.52906|0.37606	T|T	0.07|0.19	.|.	6.2485|6.2485	0.20832|0.20832	0.6732:0.167:0.0:0.1598|0.6732:0.167:0.0:0.1598	.|.	.|841;886	.|Q6P179-3;Q6P179	.|.;ERAP2_HUMAN	N|T	40|886;841	ENSP00000425415:K40N|ENSP00000400376:K886T;ENSP00000369235:K841T	ENSP00000425415:K40N|ENSP00000369235:K841T	K|K	+|+	3|2	2|0	ERAP2|ERAP2	96274917|96274917	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.417000|0.417000	0.31264|0.31264	4.139000|4.139000	0.58024|0.58024	0.251000|0.251000	0.21505|0.21505	0.460000|0.460000	0.39030|0.39030	AAA|AAA		0.398	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	Missense_Mutation
LNPEP	4012	broad.mit.edu	37	5	96314892	96314892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96314892G>T	ENST00000231368.5	+	2	762	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.E10*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	24					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E24*(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GTTTGAGGAAGAACCAGATGT	0.463																																					p.E24X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G70T	5						.						83.0	89.0	87.0					5																	96314892		2203	4300	6503	96340648	SO:0001587	stop_gained	4012	exon2			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.70G>T	5.37:g.96314892G>T	ENSP00000231368:p.Glu24*		96340648	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.798082	0.98495	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.96	5.96	0.96718	.	0.048409	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.989	0.97359	0.0:0.0:1.0:0.0	.	.	.	.	X	24;10	.	ENSP00000231368:E24X	E	+	1	0	LNPEP	96340648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.830000	0.97506	0.585000	0.79938	GAA		0.463	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
LNPEP	4012	broad.mit.edu	37	5	96360289	96360289	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96360289T>A	ENST00000231368.5	+	15	3318	c.2626T>A	c.(2626-2628)Ttc>Atc	p.F876I	LNPEP_ENST00000395770.3_Missense_Mutation_p.F862I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	876					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F876I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGGCTGGTCATTCCTTTTGGG	0.423																																					p.F876I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2626A	5						.						90.0	83.0	85.0					5																	96360289		2203	4300	6503	96386045	SO:0001583	missense	4012	exon15			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2626T>A	5.37:g.96360289T>A	ENSP00000231368:p.Phe876Ile		96386045	NM_005575	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345458	0.61073	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.05319	3.46;3.46	5.96	5.96	0.96718	.	0.233064	0.52532	D	0.000068	T	0.16128	0.0388	M	0.68317	2.08	0.45837	D	0.998705	B	0.34290	0.447	B	0.44044	0.439	T	0.00348	-1.1799	10	0.62326	D	0.03	.	16.1099	0.81255	0.0:0.0:0.0:1.0	.	876	Q9UIQ6	LCAP_HUMAN	I	876;862	ENSP00000231368:F876I;ENSP00000379117:F862I	ENSP00000231368:F876I	F	+	1	0	LNPEP	96386045	0.998000	0.40836	0.939000	0.37840	0.099000	0.18886	3.142000	0.50601	2.285000	0.76669	0.533000	0.62120	TTC		0.423	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575	
LIX1	167410	broad.mit.edu	37	5	96430694	96430694	+	Missense_Mutation	SNP	G	G	A	rs139339824		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96430694G>A	ENST00000274382.4	-	6	902	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	203								p.R203C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ATGTGGCTGCGCATCTTTTCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18822	0.001		0.0	False		,,,				2504	0.0				p.R203C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C607T	5						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		607	4.9	1.0	5	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIX1	NM_153234.4	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	203/283	96430694	2,13004	2203	4300	6503	96456450	SO:0001583	missense	167410	exon6				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.607C>T	5.37:g.96430694G>A	ENSP00000274382:p.Arg203Cys		96456450	NM_153234	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114088	0.77210	2.27E-4	1.16E-4	ENSG00000145721	ENST00000274382	T	0.59364	0.27	5.85	4.9	0.64082	.	0.048188	0.85682	D	0.000000	T	0.72598	0.3480	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.75736	-0.3213	10	0.87932	D	0	-17.0073	15.9275	0.79632	0.0:0.0:0.8231:0.1769	.	203	Q8N485	LIX1_HUMAN	C	203	ENSP00000274382:R203C	ENSP00000274382:R203C	R	-	1	0	LIX1	96456450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.525000	0.45598	2.773000	0.95371	0.655000	0.94253	CGC		0.512	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
LIX1	167410	broad.mit.edu	37	5	96432537	96432537	+	Missense_Mutation	SNP	G	G	A	rs139105148		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:96432537G>A	ENST00000274382.4	-	5	833	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	180								p.R180C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TTTGTTTCACGAAGGGCTTTT	0.428																																					p.R180C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	5						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	102.0	103.0		538	5.3	1.0	5	dbSNP_134	103	0,8600		0,0,4300	no	missense	LIX1	NM_153234.4	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	180/283	96432537	1,13005	2203	4300	6503	96458293	SO:0001583	missense	167410	exon5				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.538C>T	5.37:g.96432537G>A	ENSP00000274382:p.Arg180Cys		96458293	NM_153234	A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137829	0.77775	2.27E-4	0.0	ENSG00000145721	ENST00000274382	T	0.59224	0.28	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.74968	-0.3483	10	0.87932	D	0	-8.4011	13.8944	0.63761	0.0:0.0:0.7356:0.2643	.	180	Q8N485	LIX1_HUMAN	C	180	ENSP00000274382:R180C	ENSP00000274382:R180C	R	-	1	0	LIX1	96458293	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.765000	0.47621	2.941000	0.99782	0.655000	0.94253	CGT		0.428	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234	
CHD1	1105	broad.mit.edu	37	5	98236685	98236685	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:98236685C>A	ENST00000284049.3	-	6	838	c.689G>T	c.(688-690)aGa>aTa	p.R230I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	230					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R230I(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACGAGAACTTCTTTTATCATT	0.358																																					p.R230I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689T	5						.						155.0	150.0	152.0					5																	98236685		2203	4300	6503	98264585	SO:0001583	missense	1105	exon6			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.689G>T	5.37:g.98236685C>A	ENSP00000284049:p.Arg230Ile		98264585	NM_001270	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111234	0.94339	.	.	ENSG00000153922	ENST00000284049	D	0.90955	-2.76	5.51	5.51	0.81932	.	0.000000	0.35378	U	0.003253	D	0.92120	0.7502	M	0.69358	2.11	0.80722	D	1	P	0.48640	0.913	P	0.47075	0.536	D	0.92631	0.6116	10	0.66056	D	0.02	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	230	O14646	CHD1_HUMAN	I	230	ENSP00000284049:R230I	ENSP00000284049:R230I	R	-	2	0	CHD1	98264585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.340000	0.59328	2.749000	0.94314	0.460000	0.39030	AGA		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
TRIM41	90933	broad.mit.edu	37	5	180661307	180661307	+	Silent	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:180661307A>G	ENST00000315073.5	+	6	2135	c.1425A>G	c.(1423-1425)gtA>gtG	p.V475V	TRIM41_ENST00000351937.5_Silent_p.V475V|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	475	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V475V(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGCTGCGTACTGGGGGCCC	0.726																																					p.V475V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1425G	5						.						15.0	18.0	17.0					5																	180661307		2035	4022	6057	180593913	SO:0001819	synonymous_variant	90933	exon6			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1425A>G	5.37:g.180661307A>G			180593913	NM_033549	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	CCDS4466.1																																																																																				0.726	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
NDUFA5	4698	broad.mit.edu	37	7	123185657	123185657	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:123185657T>G	ENST00000355749.2	-	4	709				NDUFA5_ENST00000467117.1_Intron|NDUFA5_ENST00000471770.1_Intron	NM_001282419.1|NM_005000.2	NP_001269348.1|NP_004991.1	Q16718	NDUA5_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.?(1)		large_intestine(1)|urinary_tract(1)	2						AGTCAACTTTTTCTTTACCTG	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						133.0	128.0	130.0					7																	123185657		2202	4297	6499	122972893	SO:0001627	intron_variant	4698	.				CCDS5788.1, CCDS64760.1, CCDS75655.1, CCDS75656.1	7q31.33	2013-06-19	2013-06-19		ENSG00000128609	ENSG00000128609		"""Mitochondrial respiratory chain complex / Complex I"""	7688	protein-coding gene	gene with protein product	"""complex I 13kDa subunit B"", ""ubiquinone reductase"", ""type I dehydrogenase"", ""NADH-ubiquinone oxidoreductase 13 kDa-B subunit"""	601677	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa"""			9763677, 9021153	Standard	XM_005250371		Approved	B13, NUFM, CI-13KD-B, UQOR13, CI-13kB	uc003vks.3	Q16718	OTTHUMG00000157348	ENST00000355749.2:c.249+7A>C	7.37:g.123185657T>G			122972893	.	B2RD98|Q5H9R2|Q6IRX7	Intron	SNP	ENST00000355749.2	37	CCDS5788.1																																																																																				0.323	NDUFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348533.1	NM_005000	
MEST	4232	broad.mit.edu	37	7	130146513	130146513	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:130146513G>A	ENST00000223215.4	+	0	2465				RP11-2E11.9_ENST00000604965.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGTCCAGTAAGCATTTATCCA	0.453																																					.	Colon(126;2182 2305 6517 35181)											.	.	0			.	7						.						79.0	72.0	74.0					7																	130146513		1891	4117	6008	129933749	SO:0001628	intergenic_variant	26958	.				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661		7.37:g.130146513G>A			129933749	.	B2R6S1|O14973|O15007|Q6AI49|Q92571	3'UTR	SNP	ENST00000223215.4	37	CCDS5822.1																																																																																				0.453	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402	
POM121	9883	broad.mit.edu	37	7	72419557	72419557	+	IGR	SNP	C	C	T	rs370361200		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:72419557C>T	ENST00000434423.2	+	0	3750				POM121_ENST00000395270.1_3'UTR|NSUN5P2_ENST00000388955.4_RNA			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCACAGGGCTCGCTGCTGGAA	0.622																																					.												.	.	0			.	7						.	C		0,4400		0,0,2200	20.0	23.0	22.0			2.7	0.9	7		22	2,8590		0,2,4294	no	near-gene-3				0,2,6494	TT,TC,CC		0.0233,0.0,0.0154			72419557	2,12990	2200	4296	6496	72057493	SO:0001628	intergenic_variant	260294	.			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527		7.37:g.72419557C>T			72057493	.	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37																																																																																					0.622	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
RFC2	5982	broad.mit.edu	37	7	73649979	73649979	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:73649979G>T	ENST00000055077.3	-	10	901				RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CAAGAATCTAGACAAAGGAGA	0.448																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						89.0	86.0	87.0					7																	73649979		2203	4300	6503	73287915	SO:0001627	intron_variant	5982	.				CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.841-4C>A	7.37:g.73649979G>T			73287915	.	B5BU07|D3DXG3|P32846|Q9BU93	Intron	SNP	ENST00000055077.3	37	CCDS5568.1																																																																																				0.448	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	
POM121C	100101267	broad.mit.edu	37	7	75045357	75045357	+	IGR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:75045357G>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.A33T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCTGTGCCACGCGCTCACTTT	0.637																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	7						.																																			74883293	SO:0001628	intergenic_variant	155400	.				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045357G>A			74883293	.	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37																																																																																					0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415	
ACTR3B	57180	broad.mit.edu	37	7	152522209	152522209	+	Splice_Site	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr7:152522209T>C	ENST00000256001.8	+	9	1085		c.e9+2		ACTR3B_ENST00000537264.1_Splice_Site|ACTR3B_ENST00000377776.3_Splice_Site|ACTR3B_ENST00000397282.2_Splice_Site	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)							cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.?(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		CTGTATAAGGTATGAGCTGCC	0.423																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	7						.						81.0	74.0	76.0					7																	152522209		2203	4300	6503	152153142	SO:0001630	splice_region_variant	57180	.				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.951+2T>C	7.37:g.152522209T>C			152153142	.	A8MTG1|B4DFW4|Q7Z526|Q96BT2	Splice_Site	SNP	ENST00000256001.8	37	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795422	0.50208	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1363	0.53972	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTR3B	152153142	1.000000	0.71417	0.988000	0.46212	0.550000	0.35303	5.800000	0.69108	1.536000	0.49237	0.402000	0.26972	.		0.423	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445	Intron
SNORA71D	677840	broad.mit.edu	37	20	37062632	37062632	+	RNA	SNP	G	G	A	rs577918608		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr20:37062632G>A	ENST00000363484.1	-	0	9					NR_003018.2				small nucleolar RNA, H/ACA box 71D																		GATCACTTTCGAATACAGGTG	0.582																																					.												.	.	0			.	20						.						139.0	132.0	134.0					20																	37062632		876	1991	2867	36496046			388796	.					20q11.23	2013-09-05			ENSG00000200354	ENSG00000200354		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32657	non-coding RNA	RNA, small nucleolar						15199136, 16381836	Standard	NR_003018		Approved	U71d	uc002xio.1				20.37:g.37062632G>A			36496046	.		Intron	SNP	ENST00000363484.1	37																																																																																					0.582	SNORA71D-201	KNOWN	basic	snoRNA	snoRNA		NR_003018	
SNORD113-6	767566	broad.mit.edu	37	14	101402911	101402911	+	RNA	SNP	G	G	T	rs543396152		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:101402911G>T	ENST00000363345.2	+	0	0				SNORD112_ENST00000516335.1_RNA|SNORD113-4_ENST00000364802.1_RNA|SNORD113-5_ENST00000607261.1_RNA	NR_003234.1				small nucleolar RNA, C/D box 113-6																		ATTACAAAGAGACACGTATTA	0.398																																					.												.	.	0			.	14						.						133.0	130.0	131.0					14																	101402911		876	1991	2867	100472664			767565	.					14q32.31	2013-09-05			ENSG00000200215	ENSG00000200215		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32985	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003234		Approved	14q(I-6)	uc001yin.3				14.37:g.101402911G>T			100472664	.		5'Flank	SNP	ENST00000363345.2	37																																																																																					0.398	SNORD113-6-201	KNOWN	basic	snoRNA	snoRNA		NR_003234.1	
IGHV1-24	28467	broad.mit.edu	37	14	106733364	106733364	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:106733364G>A	ENST00000390610.2	-	0	190									immunoglobulin heavy variable 1-24																		GGTGTATCCGGAAACCTTGCA	0.562																																					.												.	.	0			.	14						.						167.0	158.0	161.0					14																	106733364		1934	4113	6047	105804409			8755	.			M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733364G>A			105804409	.		RNA	SNP	ENST00000390610.2	37																																																																																					0.562	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325192.1	NG_001019	
IGHV4-39	28394	broad.mit.edu	37	14	106877699	106877699	+	RNA	SNP	C	C	T	rs587694956	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:106877699C>T	ENST00000390619.2	-	0	344									immunoglobulin heavy variable 4-39																		GACGTGTCTACGGATATGGTG	0.567													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		12159	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	14						.						154.0	131.0	138.0					14																	106877699		1927	4132	6059	105948744			8755	.			L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877699C>T			105948744	.		RNA	SNP	ENST00000390619.2	37																																																																																					0.567	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019	
IGHV3-48	28424	broad.mit.edu	37	14	106994270	106994270	+	RNA	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:106994270T>C	ENST00000390624.2	-	0	76									immunoglobulin heavy variable 3-48																		AACTCCATGGTGAGTCCTCTG	0.483																																					.												.	.	0			.	14						.						173.0	162.0	165.0					14																	106994270		1893	4117	6010	106065315			8755	.			M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994270T>C			106065315	.		Intron	SNP	ENST00000390624.2	37																																																																																					0.483	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019	
IGHV1-58	28464	broad.mit.edu	37	14	107078444	107078444	+	RNA	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:107078444A>G	ENST00000390628.2	-	0	340									immunoglobulin heavy variable 1-58																		GTGCTTGTGGACATGTCCCTG	0.527																																					.												.	.	0			.	14						.						199.0	210.0	206.0					14																	107078444		2111	4221	6332	106149489			8755	.			M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078444A>G			106149489	.		RNA	SNP	ENST00000390628.2	37																																																																																					0.527	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019	
IGHV4-59	28392	broad.mit.edu	37	14	107083531	107083531	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:107083531C>A	ENST00000455737.1	-	0	112									immunoglobulin heavy variable 4-59																		GGGCCCGACTCCTGCAGCTGC	0.607																																					.												.	.	0			.	14						.																																			106154576			8755	.			L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083531C>A			106154576	.		RNA	SNP	ENST00000455737.1	37																																																																																					0.607	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019	
IGHV4-61	28391	broad.mit.edu	37	14	107095192	107095192	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:107095192C>A	ENST00000390630.2	-	0	388				RNA5SP389_ENST00000362610.1_RNA					immunoglobulin heavy variable 4-61																		AGAACTGGTTCTTGGACGTGT	0.547																																					.												.	.	0			.	14						.						24.0	45.0	39.0					14																	107095192		1718	3976	5694	106166237			8755	.			M29811		14q32.33	2012-02-08			ENSG00000211970	ENSG00000211970		"""Immunoglobulins / IGH locus"""	5655	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151976		14.37:g.107095192C>A			106166237	.		RNA	SNP	ENST00000390630.2	37																																																																																					0.547	IGHV4-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324623.1	NG_001019	
MYH6	4624	broad.mit.edu	37	14	23857825	23857825	+	Intron	SNP	C	C	T	rs372515832		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:23857825C>T	ENST00000356287.3	-	28	4205				MYH6_ENST00000405093.3_Intron|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha						adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCTTTTTGCTCGTCTTATACG	0.587																																					.												.	.	0			.	14						.	C		0,3136		0,0,1568	81.0	78.0	79.0			5.1	1.0	14		79	1,7163		0,1,3581	no	intron	MYH6	NM_002471.3		0,1,5149	TT,TC,CC		0.014,0.0,0.0097			23857825	1,10299	1568	3582	5150	22927665	SO:0001627	intron_variant	406990	.			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4175+242G>A	14.37:g.23857825C>T			22927665	.	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	RNA	SNP	ENST00000356287.3	37	CCDS9600.1																																																																																				0.587	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
KIAA0391	9692	broad.mit.edu	37	14	35783559	35783559	+	Intron	SNP	T	T	A			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:35783559T>A	ENST00000557565.1	+	14	3536				PSMA6_ENST00000555764.1_Intron|PSMA6_ENST00000556506.1_Intron|PSMA6_ENST00000553809.1_Intron|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000261479.4_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TTAAATACTTTTTTTCAGACT	0.313																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	14						.						37.0	37.0	37.0					14																	35783559		2202	4298	6500	34853310	SO:0001627	intron_variant	5687	.			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1750-8T>A	14.37:g.35783559T>A			34853310	.	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Intron	SNP	ENST00000557565.1	37	CCDS32063.1																																																																																				0.313	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
TIMM9	26520	broad.mit.edu	37	14	58878667	58878667	+	5'UTR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:58878667C>A	ENST00000395159.2	-	0	522				TIMM9_ENST00000216463.4_Intron|TIMM9_ENST00000556007.2_5'UTR|TIMM9_ENST00000555061.1_5'UTR|TIMM9_ENST00000555404.1_5'UTR|TIMM9_ENST00000555593.1_5'UTR|RP11-517O13.1_ENST00000556734.1_RNA	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)	chaperone binding (GO:0051087)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			kidney(2)|skin(1)	3						CAGCCATATTCTTCTGGTACC	0.303																																					.												.	.	0			.	14						.						88.0	86.0	87.0					14																	58878667		2202	4300	6502	57948420	SO:0001623	5_prime_UTR_variant	26520	.			AF150100	CCDS9735.1	14q22.3-q24	2008-07-04	2001-11-28		ENSG00000100575	ENSG00000100575			11819	protein-coding gene	gene with protein product		607384	"""translocase of inner mitochondrial membrane 9 (yeast) homolog"""			10552927, 14726512	Standard	NM_012460		Approved	TIM9A	uc001xds.3	Q9Y5J7	OTTHUMG00000140322	ENST00000395159.2:c.-4G>T	14.37:g.58878667C>A			57948420	.	B2R584	5'UTR	SNP	ENST00000395159.2	37	CCDS9735.1																																																																																				0.303	TIMM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276936.2		
TGFB3	7043	broad.mit.edu	37	14	76447248	76447248	+	5'UTR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:76447248G>A	ENST00000238682.3	-	0	286				TGFB3_ENST00000556285.1_5'UTR|TGFB3_ENST00000556674.1_5'Flank	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3						activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGTGAGCTGGGAAGAGAGGCC	0.602																																					.												.	.	0			.	14						.						54.0	60.0	58.0					14																	76447248		2198	4300	6498	75517001	SO:0001623	5_prime_UTR_variant	7043	.				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.-12C>T	14.37:g.76447248G>A			75517001	.	Q8WV88	5'UTR	SNP	ENST00000238682.3	37	CCDS9846.1																																																																																				0.602	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1	NM_003239	
SERPINA13P	388007	broad.mit.edu	37	14	95109855	95109855	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95109855C>A	ENST00000469935.1	+	0	892					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F211L(1)									CAAAGGAGTTCTTTGTAGATG	0.587																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	14						.						83.0	68.0	73.0					14																	95109855		2203	4300	6503	94179608			388007	.			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95109855C>A			94179608	.		Missense_Mutation	SNP	ENST00000469935.1	37																																																																																					0.587	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340	
GSC	145258	broad.mit.edu	37	14	95234822	95234822	+	3'UTR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:95234822C>T	ENST00000238558.3	-	0	989					NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox						dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		AAGTGTCCCGCGGCCGTCAGC	0.567																																					.	Pancreas(105;2165 2186 4892 18008)											.	.	0			.	14						.						140.0	116.0	124.0					14																	95234822		2203	4300	6503	94304575	SO:0001624	3_prime_UTR_variant	145258	.				CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.*6G>A	14.37:g.95234822C>T			94304575	.	Q86YR1	3'UTR	SNP	ENST00000238558.3	37	CCDS9930.1																																																																																				0.567	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1		
IGHV2-70	28454	broad.mit.edu	37	14	107178960	107178960	+	RNA	SNP	C	C	A	rs371486752		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr14:107178960C>A	ENST00000390634.2	-	0	292									immunoglobulin heavy variable 2-70																		TCATCCCAATCAATGAGTGCA	0.517																																					.												.	.	0			.	14						.						124.0	101.0	108.0					14																	107178960		2053	4172	6225	106250005			8755	.			L21969		14q32.33	2012-02-08			ENSG00000211974	ENSG00000211974		"""Immunoglobulins / IGH locus"""	5577	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151870		14.37:g.107178960C>A			106250005	.		RNA	SNP	ENST00000390634.2	37																																																																																					0.517	IGHV2-70-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324215.1	NG_001019	
LGALS2	3957	broad.mit.edu	37	22	37966751	37966751	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:37966751G>T	ENST00000215886.4	-	3	264					NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2								carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					AGCTGCAGGAGAAGGGGTAGC	0.512																																					.	GBM(193;1840 2185 13711 20676 24505)											.	.	1	Unknown(1)	large_intestine(1)	.	22						.						55.0	53.0	54.0					22																	37966751		2203	4300	6503	36296697	SO:0001627	intron_variant	3957	.				CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.90-9C>A	22.37:g.37966751G>T			36296697	.	Q6FGY4	Intron	SNP	ENST00000215886.4	37	CCDS13950.1																																																																																				0.512	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498	
RRP7A	27341	broad.mit.edu	37	22	42905054	42905054	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr22:42905054C>T	ENST00000323013.6	-	0	3801				SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S185L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCATTGACTTCGTCAGCAGGG	0.552																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	22						.						169.0	117.0	135.0					22																	42905054		2203	4300	6503	41234998	SO:0001628	intergenic_variant	94009	.			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891		22.37:g.42905054C>T			41234998	.	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																				0.552	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	
ZNF833P	401898	broad.mit.edu	37	19	11796201	11796201	+	lincRNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:11796201C>T	ENST00000344893.3	+	0	2200					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R54*(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CAGTTCCATTCGAAAACATGC	0.353																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	19						.						49.0	52.0	51.0					19																	11796201		2203	4300	6503	11657201			401898	.			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796201C>T			11657201	.	B2RPA0	Nonsense_Mutation	SNP	ENST00000344893.3	37																																																																																					0.353	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691	
MAMSTR	284358	broad.mit.edu	37	19	49217039	49217039	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49217039G>T	ENST00000318083.6	-	9	973				MAMSTR_ENST00000356751.4_Intron|MAMSTR_ENST00000419611.1_Intron|MAMSTR_ENST00000377367.3_Intron|MAMSTR_ENST00000594582.1_Intron			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator						positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						TGCGGATGGAGAAATTTGGCG	0.572											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	0			.	19						.						147.0	145.0	145.0					19																	49217039		2203	4300	6503	53908851	SO:0001627	intron_variant	284358	.			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.910-12C>A	19.37:g.49217039G>T		960	53908851	.	B7ZKX4|Q3KQU9|Q8N9Y3	Intron	SNP	ENST00000318083.6	37	CCDS46137.1																																																																																				0.572	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574	
RPL13A	23521	broad.mit.edu	37	19	49994461	49994461	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:49994461C>A	ENST00000391857.4	+	6	478				SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|RPL13A_ENST00000477613.2_Intron|SNORD35A_ENST00000363389.1_RNA|SNORD34_ENST00000365633.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a						cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TCACGATGGTCTGCGGATGTC	0.567																																					.												.	.	0			.	19						.						158.0	159.0	159.0					19																	49994461		876	1991	2867	54686273	SO:0001627	intron_variant	23521	.			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.402+105C>A	19.37:g.49994461C>A			54686273	.	A8K505	Intron	SNP	ENST00000391857.4	37	CCDS12768.1																																																																																				0.567	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1		
DPRX	503834	broad.mit.edu	37	19	54137777	54137777	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:54137777C>A	ENST00000376650.1	+	2	79					NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.?(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTTTCCTCCTCTTTCAAGGCA	0.428																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						137.0	121.0	127.0					19																	54137777		2203	4300	6503	58829589	SO:0001627	intron_variant	503834	.				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.29-8C>A	19.37:g.54137777C>A			58829589	.		Intron	SNP	ENST00000376650.1	37	CCDS33103.1																																																																																				0.428	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	
GALP	85569	broad.mit.edu	37	19	56688476	56688476	+	5'UTR	SNP	C	C	T	rs556257051		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:56688476C>T	ENST00000357330.2	+	0	81				GALP_ENST00000590002.1_5'Flank|GALP_ENST00000440823.1_5'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide						behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		GTCCTGCCTTCGATGGCTCCT	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15967	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	19						.						71.0	42.0	52.0					19																	56688476		2203	4300	6503	61380288	SO:0001623	5_prime_UTR_variant	85569	.			AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.-2C>T	19.37:g.56688476C>T			61380288	.	A1KXL3	5'UTR	SNP	ENST00000357330.2	37	CCDS12940.1																																																																																				0.642	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106	
DUXA	503835	broad.mit.edu	37	19	57666741	57666741	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr19:57666741C>A	ENST00000554048.2	-	5	438		c.e5-1			NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GGAACCAAATCTAAGTGGTAA	0.378																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						57.0	54.0	55.0					19																	57666741		2203	4300	6503	62358553	SO:0001630	splice_region_variant	503835	.				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.439-1G>T	19.37:g.57666741C>A			62358553	.		Splice_Site	SNP	ENST00000554048.2	37	CCDS33126.1	.	.	.	.	.	.	.	.	.	.	C	3.067	-0.191998	0.06299	.	.	ENSG00000258873	ENST00000554048	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.44194	D	0.997014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7237	0.28746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUXA	62358553	0.604000	0.26932	0.240000	0.24138	0.207000	0.24258	1.488000	0.35551	1.455000	0.47813	0.514000	0.50259	.		0.378	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729	Intron
ZNF706	51123	broad.mit.edu	37	8	102212326	102212326	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:102212326C>A	ENST00000520347.1	-	3	3092		c.e3-1		ZNF706_ENST00000518336.1_Splice_Site|ZNF706_ENST00000517844.1_Splice_Site|ZNF706_ENST00000520984.1_Splice_Site|ZNF706_ENST00000311212.4_Splice_Site|ZNF706_ENST00000519882.1_Splice_Site|ZNF706_ENST00000521272.1_Splice_Site|ZNF706_ENST00000519744.1_Intron			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706								metal ion binding (GO:0046872)	p.?(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			GCATTTGTGTCTAACAAAAAA	0.368																																					.												.	.	2	Unknown(2)	large_intestine(2)	.	8						.						129.0	118.0	122.0					8																	102212326		2203	4300	6503	102281502	SO:0001630	splice_region_variant	51123	.			AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.136-1G>T	8.37:g.102212326C>A			102281502	.	A8K362	Splice_Site	SNP	ENST00000520347.1	37	CCDS6291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696865|3.696865	0.68386|0.68386	.|.	.|.	ENSG00000120963|ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336|ENST00000519103	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76535	.|0.4001	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74281	.|-0.3716	.|4	.|.	.|.	.|.	.|.	19.9225|19.9225	0.97093|0.97093	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|26	.|.	.|.	.|R	-|-	.|2	.|0	ZNF706|ZNF706	102281502|102281502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.715000|7.715000	0.84713|0.84713	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	.|AGA		0.368	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1	NM_016096	Intron
FBXO25	26260	broad.mit.edu	37	8	382885	382885	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:382885G>T	ENST00000276326.5	+	4	357		c.e4-1		FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000352684.2_Intron|FBXO25_ENST00000382824.1_Intron	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25						protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTTTATTCTAGGTTTTTATCG	0.249																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						26.0	26.0	26.0					8																	382885		2180	4250	6430	372885	SO:0001630	splice_region_variant	26260	.			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.239-1G>T	8.37:g.382885G>T			372885	.	Q6PJ83|Q7Z4V4|Q9UKB8	Splice_Site	SNP	ENST00000276326.5	37	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947391	0.53186	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000276326;ENST00000447233	.	.	.	4.36	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3924	0.49822	0.0:0.0:0.8173:0.1827	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO25	372885	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.388000	0.79795	0.920000	0.36970	0.449000	0.29647	.		0.249	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173	Intron
VPS37A	137492	broad.mit.edu	37	8	17133900	17133900	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:17133900C>A	ENST00000324849.4	+	6	1316				VPS37A_ENST00000521829.1_Intron	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)						cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.?(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		TAAAACTTTTCTTTAGACAAG	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						64.0	64.0	64.0					8																	17133900		2203	4300	6503	17178271	SO:0001627	intron_variant	137492	.				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.643-6C>A	8.37:g.17133900C>A			17178271	.	Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Intron	SNP	ENST00000324849.4	37	CCDS6001.1																																																																																				0.333	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253301.2	NM_152415	
GTF2E2	2961	broad.mit.edu	37	8	30472118	30472118	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:30472118T>G	ENST00000355904.4	-	4	649				GTF2E2_ENST00000522833.1_5'Flank	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		ATCAACTAAATTCTTACCTCA	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						188.0	170.0	176.0					8																	30472118		2202	4300	6502	30591660	SO:0001627	intron_variant	2961	.			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.366+6A>C	8.37:g.30472118T>G			30591660	.	D3DSV2|Q9H2B9	Intron	SNP	ENST00000355904.4	37	CCDS6078.1																																																																																				0.363	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095	
MIR1207	100302175	broad.mit.edu	37	8	129061461	129061461	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr8:129061461C>A	ENST00000408249.1	+	0	64					NR_031612.1				microRNA 1207																		AGCTGGCCCTCATTTCTTAAG	0.572																																					.												.	.	0			.	8						.						56.0	58.0	57.0					8																	129061461		1568	3582	5150	129130643			5820	.					8	2011-09-12		2008-12-18	ENSG00000221176	ENSG00000221176		"""ncRNAs / Micro RNAs"""	35273	non-coding RNA	RNA, micro				MIRN1207			Standard	NR_031612		Approved	hsa-mir-1207	uc022bbj.1				8.37:g.129061461C>A			129130643	.		Intron	SNP	ENST00000408249.1	37																																																																																					0.572	MIR1207-201	KNOWN	basic	miRNA	miRNA		NR_031612	
PRKY	5616	broad.mit.edu	37	Y	7194115	7194115	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrY:7194115C>T	ENST00000528056.1	+	0	845				RN7SKP282_ENST00000516824.1_RNA	NR_028062.1		O43930	PRKY_HUMAN	protein kinase, Y-linked, pseudogene						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.I168I(2)		large_intestine(2)|lung(3)|skin(1)	6						CCAAGGAGATCGTCTACAGGG	0.547													C	5	0.00405844	0.0	0.0	1232	,	,		109238	0.0		0.0	False		,,,				1232	0.0096				.												.	.	2	Substitution - coding silent(2)	large_intestine(2)	.	Y						.																																			7254115			5616	.					Yp11.2	2011-09-15	2011-09-15		ENSG00000099725	ENSG00000099725			9444	pseudogene	pseudogene		400008	"""protein kinase, Y-linked"""			7633447	Standard	NR_028062		Approved	PRKYP, PRKXP3	uc004fre.3	O43930	OTTHUMG00000035301		Y.37:g.7194115C>T			7254115	.	O15348|O15349	Silent	SNP	ENST00000528056.1	37																																																																																					0.547	PRKY-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000085364.1		
CTSK	1513	broad.mit.edu	37	1	150779291	150779291	+	Intron	SNP	G	G	T	rs200480574		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:150779291G>T	ENST00000271651.3	-	2	110				CTSK_ENST00000480670.1_5'Flank	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K						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.?(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGCAGAAGAATGTAGTTA	0.473																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						100.0	91.0	94.0					1																	150779291		2203	4300	6503	149045915	SO:0001627	intron_variant	1513	.			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.1-9C>A	1.37:g.150779291G>T			149045915	.	Q6FHS6	Intron	SNP	ENST00000271651.3	37	CCDS969.1																																																																																				0.473	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084732.1	NM_000396	
FCGR2B	2213	broad.mit.edu	37	1	161642761	161642761	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:161642761T>G	ENST00000358671.5	+	4	472				FCGR2B_ENST00000367961.4_Intron|FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Intron	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTGTGTCTTTCAGAGTGGCT	0.567			T	?	ALL																																.			Dom	yes		1	1q23	2213	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""		L	.	.	1	Unknown(1)	large_intestine(1)	.	1						.						26.0	32.0	30.0					1																	161642761		2193	4299	6492	159909385	SO:0001627	intron_variant	2213	.			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.392-4T>G	1.37:g.161642761T>G			159909385	.	A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Intron	SNP	ENST00000358671.5	37	CCDS30924.1																																																																																				0.567	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	
C1orf105	92346	broad.mit.edu	37	1	172431312	172431312	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:172431312C>A	ENST00000367727.4	+	5	471				C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105									p.?(2)		large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGACTTTCTTCTTGAGGTACA	0.323																																					.												.	.	2	Unknown(2)	large_intestine(1)|lung(1)	.	1						.						94.0	86.0	89.0					1																	172431312		2203	4300	6503	170697935	SO:0001627	intron_variant	92346	.			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.274-6C>A	1.37:g.172431312C>A			170697935	.	Q8IY02	Intron	SNP	ENST00000367727.4	37	CCDS1301.1																																																																																				0.323	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240	
ZBTB37	84614	broad.mit.edu	37	1	173835440	173835440	+	5'Flank	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:173835440G>A	ENST00000367701.5	+	0	0				GAS5_ENST00000363146.1_RNA|GAS5_ENST00000365524.1_RNA|GAS5-AS1_ENST00000602767.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000385578.2_RNA|GAS5_ENST00000363840.1_RNA|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363859.1_RNA|ZBTB37_ENST00000432989.1_5'Flank|ZBTB37_ENST00000427304.1_5'Flank|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_5'Flank			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AACTACCCCAGATACATCAGA	0.323																																					.												.	.	0			.	1						.						79.0	79.0	79.0					1																	173835440		876	1991	2867	172102063	SO:0001631	upstream_gene_variant	60674	.			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835440G>A	Exception_encountered		172102063	.	Q5TC80|Q96M87|Q9BQ88	Intron	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																				0.323	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522	
RGS8	85397	broad.mit.edu	37	1	182635172	182635172	+	Intron	SNP	G	G	T	rs574950888|rs34724940	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:182635172G>T	ENST00000483095.2	-	5	386				RGS8_ENST00000367557.4_Intron|RGS8_ENST00000258302.4_Intron|RGS8_ENST00000491420.2_Intron|RGS8_ENST00000367556.1_Intron			P57771	RGS8_HUMAN	regulator of G-protein signaling 8						positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.?(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						TAATCTCCTAGAAAAAAAGAA	0.398																																					.	Ovarian(189;1262 3804 41973)											.	.	1	Unknown(1)	large_intestine(1)	.	1						.						112.0	115.0	114.0					1																	182635172		2203	4300	6503	180901795	SO:0001627	intron_variant	85397	.			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.129-4C>A	1.37:g.182635172G>T			180901795	.	B4DGL9|Q3SYD2	Intron	SNP	ENST00000483095.2	37	CCDS41443.1																																																																																				0.398	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345	
PIK3CD	5293	broad.mit.edu	37	1	9714375	9714375	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:9714375C>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Missense_Mutation_p.K40N	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.K40N(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCCGCCAGGTCTTTGCACTAA	0.592																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						74.0	77.0	76.0					1																	9714375		2039	4185	6224	9636962	SO:0001627	intron_variant	644997	.				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2515C>A	1.37:g.9714375C>A			9636962	.	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262329	0.23051	.	.	ENSG00000179840	ENST00000377320	.	.	.	2.07	2.07	0.26955	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.09310	N	1	P	0.45827	0.867	P	0.47015	0.534	T	0.16305	-1.0407	7	0.66056	D	0.02	.	7.6946	0.28587	0.0:1.0:0.0:0.0	.	40	Q5SR53	CA200_HUMAN	N	40	.	ENSP00000366537:K40N	K	-	3	2	C1orf200	9636962	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.411000	0.07142	1.465000	0.48006	0.561000	0.74099	AAG		0.592	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
BTF3L4	91408	broad.mit.edu	37	1	52530492	52530492	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:52530492T>G	ENST00000313334.8	+	3	322				BTF3L4_ENST00000533836.1_Intron|BTF3L4_ENST00000489308.2_Intron|BTF3L4_ENST00000484036.1_Intron|BTF3L4_ENST00000472944.2_Intron	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4									p.?(1)		endometrium(2)|kidney(1)|large_intestine(2)	5						TTGGTTATTTTTCAGGGTACA	0.393																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						68.0	69.0	68.0					1																	52530492		2203	4300	6503	52303080	SO:0001627	intron_variant	91408	.			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.55-5T>G	1.37:g.52530492T>G			52303080	.	B3KNJ1|D3DQ32|G3V1C6	Intron	SNP	ENST00000313334.8	37	CCDS30713.1																																																																																				0.393	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1	NM_152265	
SPATA1	100505741	broad.mit.edu	37	1	84991699	84991699	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:84991699G>T	ENST00000370638.2	+	0	752							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1									p.D185Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ACTTGGAAGAGATCCCAGTTT	0.373																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						34.0	35.0	34.0					1																	84991699		2203	4299	6502	84764287			64173	.			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84991699G>T			84764287	.	A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	Missense_Mutation	SNP	ENST00000370638.2	37																																																																																					0.373	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354	
CLCA3P	9629	broad.mit.edu	37	1	87104529	87104529	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:87104529C>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TAATCTAATTCTTTCATCATA	0.373																																					.												.	.	0			.	1						.						45.0	44.0	44.0					1																	87104529		2203	4300	6503	86877117			9629	.																															1.37:g.87104529C>A			86877117	.		Intron	SNP	ENST00000456587.1	37																																																																																					0.373	RP4-651E10.4-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000028263.1		
DR1	1810	broad.mit.edu	37	1	93819459	93819459	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:93819459C>A	ENST00000370272.4	+	2	978				DR1_ENST00000370267.1_Intron	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		ATTTTCATTTCTCTAGCACTA	0.383																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	1						.						54.0	55.0	54.0					1																	93819459		2203	4300	6503	93592047	SO:0001627	intron_variant	1810	.			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.221-6C>A	1.37:g.93819459C>A			93592047	.		Intron	SNP	ENST00000370272.4	37	CCDS744.1																																																																																				0.383	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029976.2	NM_001938	
H3F3A	3020	broad.mit.edu	37	1	226252187	226252187	+	Intron	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr1:226252187A>C	ENST00000366813.1	+	1	503				H3F3A_ENST00000366816.1_Intron|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Intron|H3F3A_ENST00000366815.3_Intron			P84243	H33_HUMAN	H3 histone, family 3A						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.?(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		ACAGGTATTAAAAAACAGGAA	0.413			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.			Dom	yes		1	1q42.12	3020	"""H3 histone, family 3A"""		O	.	.	1	Unknown(1)	large_intestine(1)	.	1						.						32.0	34.0	34.0					1																	226252187		2196	4294	6490	224318810	SO:0001627	intron_variant	3020	.			BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.128+7A>C	1.37:g.226252187A>C		2311	224318810	.	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Intron	SNP	ENST00000366813.1	37	CCDS1550.1																																																																																				0.413	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107	
TTC9C	283237	broad.mit.edu	37	11	62505866	62505866	+	3'UTR	SNP	G	G	T	rs372876624		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:62505866G>T	ENST00000316461.4	+	0	838				TTC9C_ENST00000532583.1_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C											breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						AAAGAAGAAAGATGCTCCTCC	0.478																																					.												.	.	0			.	11						.						59.0	54.0	55.0					11																	62505866		2202	4299	6501	62262442	SO:0001624	3_prime_UTR_variant	283237	.			BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.*12G>T	11.37:g.62505866G>T			62262442	.	Q8WYY7	3'UTR	SNP	ENST00000316461.4	37	CCDS8033.1																																																																																				0.478	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810	
ATL3	25923	broad.mit.edu	37	11	63403807	63403807	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63403807C>A	ENST00000398868.3	-	9	1127		c.e9-1		ATL3_ENST00000538786.1_Splice_Site|ATL3_ENST00000332645.4_Splice_Site|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCAGCAATATCTGTTCACAGG	0.403											OREG0021036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						122.0	111.0	114.0					11																	63403807		1889	4132	6021	63160383	SO:0001630	splice_region_variant	25923	.				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.851-1G>T	11.37:g.63403807C>A		1068	63160383	.	Q8N7W5|Q9H8Q5|Q9UFL1	Splice_Site	SNP	ENST00000398868.3	37	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241035	0.79912	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3466	0.87311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATL3	63160383	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	.		0.403	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	Intron
ATL3	25923	broad.mit.edu	37	11	63413974	63413974	+	Intron	SNP	C	C	A	rs200298194		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63413974C>A	ENST00000398868.3	-	6	895				ATL3_ENST00000538786.1_Intron|ATL3_ENST00000332645.4_Intron|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						aataaatattCTAACCTGGAA	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.						35.0	36.0	36.0					11																	63413974		1787	4048	5835	63170550	SO:0001627	intron_variant	25923	.				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.618+4G>T	11.37:g.63413974C>A			63170550	.	Q8N7W5|Q9H8Q5|Q9UFL1	Intron	SNP	ENST00000398868.3	37	CCDS41663.1																																																																																				0.323	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
ATL3	25923	broad.mit.edu	37	11	63426501	63426501	+	Intron	SNP	C	C	A	rs377110368		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:63426501C>A	ENST00000398868.3	-	2	538				ATL3_ENST00000538786.1_Intron|ATL3_ENST00000535789.1_5'Flank|ATL3_ENST00000332645.4_Intron|RP11-697H9.2_ENST00000540307.1_RNA	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TAAAATAATTCTATCTTACCT	0.328																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	11						.	C		0,3640		0,0,1820	69.0	70.0	70.0			4.1	0.0	11		70	2,8156		0,2,4077	no	intron	ATL3	NM_015459.3		0,2,5897	AA,AC,CC		0.0245,0.0,0.017			63426501	2,11796	1820	4079	5899	63183077	SO:0001627	intron_variant	25923	.				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.261+8G>T	11.37:g.63426501C>A			63183077	.	Q8N7W5|Q9H8Q5|Q9UFL1	Intron	SNP	ENST00000398868.3	37	CCDS41663.1																																																																																				0.328	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
MALAT1	378938	broad.mit.edu	37	11	65267567	65267567	+	lincRNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:65267567G>T	ENST00000534336.1	+	0	2335				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGTTTACGTAGACCAGAACCA	0.328																																					.												.	.	0			.	11						.						8.0	9.0	8.0					11																	65267567		866	1983	2849	65024143			378938	.			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267567G>T			65024143	.		RNA	SNP	ENST00000534336.1	37																																																																																					0.328	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819	
AAMDC	28971	broad.mit.edu	37	11	77583362	77583362	+	3'UTR	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr11:77583362T>G	ENST00000526415.1	+	0	543				AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000393427.2_3'UTR|RP11-91P24.7_ENST00000525594.1_RNA|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000525034.1_3'UTR|AAMDC_ENST00000525409.1_3'UTR|AAMDC_ENST00000533193.1_3'UTR			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing						negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											CACCTGCTGATGGAGCCTTAA	0.512																																					.												.	.	0			.	11						.						101.0	95.0	97.0					11																	77583362		2200	4292	6492	77261010	SO:0001624	3_prime_UTR_variant	28971	.			BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 67"""	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.*1T>G	11.37:g.77583362T>G			77261010	.	Q96AQ4|Q9Y6B1	Intron	SNP	ENST00000526415.1	37	CCDS8254.1																																																																																				0.512	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684	
RNF217-AS1	7955	broad.mit.edu	37	6	125231572	125231572	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:125231572G>T	ENST00000439075.1	-	0	3173					NR_026876.1																						TCTAAAAAAAGTACTTTTTAT	0.279																																					.												.	.	0			.	6						.						15.0	16.0	15.0					6																	125231572		873	1988	2861	125273271			7955	.																															6.37:g.125231572G>T			125273271	.		RNA	SNP	ENST00000439075.1	37																																																																																					0.279	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1		
RNF217-AS1	7955	broad.mit.edu	37	6	125231977	125231977	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:125231977C>A	ENST00000439075.1	-	0	2768					NR_026876.1																						AGAATAATATCTCTCAGCACA	0.244																																					.												.	.	0			.	6						.						15.0	16.0	16.0					6																	125231977		866	1991	2857	125273676			7955	.																															6.37:g.125231977C>A			125273676	.		RNA	SNP	ENST00000439075.1	37																																																																																					0.244	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1		
RNF217-AS1	7955	broad.mit.edu	37	6	125233602	125233602	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:125233602C>A	ENST00000439075.1	-	0	1143					NR_026876.1																						ACTTTGCTTTCTTGGCTAATA	0.388																																					.												.	.	0			.	6						.						65.0	68.0	67.0					6																	125233602		876	1991	2867	125275301			7955	.																															6.37:g.125233602C>A			125275301	.		RNA	SNP	ENST00000439075.1	37																																																																																					0.388	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1		
BTN2A3P	54718	broad.mit.edu	37	6	26426730	26426730	+	RNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:26426730G>T	ENST00000466808.2	+	0	1046							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.E229*(1)									CCAGAAGAAAGAAAGTGTCAT	0.512																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	6						.						122.0	117.0	119.0					6																	26426730		2203	4300	6503	26534709			54718	.			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26426730G>T			26534709	.	A6NEF4	Nonsense_Mutation	SNP	ENST00000466808.2	37																																																																																					0.512	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795	
DXO	1797	broad.mit.edu	37	6	31938611	31938611	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:31938611G>T	ENST00000375349.3	-	4	1004				DXO_ENST00000478221.1_Intron|DXO_ENST00000337523.5_Intron|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000375356.3_Intron|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease						metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)	p.?(1)									GTCTGCACAAGGAGAGAAGCA	0.602																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						32.0	36.0	35.0					6																	31938611		1510	2709	4219	32046590	SO:0001627	intron_variant	1797	.			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.593-9C>A	6.37:g.31938611G>T			32046590	.	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Intron	SNP	ENST00000375349.3	37	CCDS4732.1																																																																																				0.602	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3		
SLC22A2	6582	broad.mit.edu	37	6	160670426	160670426	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr6:160670426G>T	ENST00000366953.3	-	4	932				SLC22A2_ENST00000491092.1_Intron|SLC22A2_ENST00000366952.1_Intron	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2						body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACTGCAGAGAGAATTTGAATG	0.408																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	6						.						84.0	80.0	82.0					6																	160670426		2203	4300	6503	160590416	SO:0001627	intron_variant	6582	.			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.674-10C>A	6.37:g.160670426G>T			160590416	.	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Intron	SNP	ENST00000366953.3	37	CCDS5276.1																																																																																				0.408	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058	
CCDC144CP	348254	broad.mit.edu	37	17	18486811	18486811	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18486811C>T								CTD-2303H24.2 (41577 upstream) : CCDC144B (4781 downstream)																							CATTTCTTTTCTCCCATTTTC	0.303																																					.												.	.	0			.	17						.						119.0	103.0	108.0					17																	18486811		1810	4068	5878	18427536	SO:0001628	intergenic_variant	284047	.																															17.37:g.18486811C>T			18427536	.		Missense_Mutation	SNP		37																																																																																				0	0.303								
CCDC144CP	348254	broad.mit.edu	37	17	18528713	18528713	+	IGR	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:18528713C>T								CCDC144B (19009 upstream) : TBC1D28 (9605 downstream)																							CTGCCAGCTTCGGAGACCCCT	0.647																																					.												.	.	0			.	17						.						24.0	29.0	27.0					17																	18528713		2202	4300	6502	18469438	SO:0001628	intergenic_variant	284047	.																															17.37:g.18528713C>T			18469438	.		Silent	SNP		37																																																																																				0	0.647								
OR3A4P	390756	broad.mit.edu	37	17	3213911	3213911	+	RNA	SNP	G	G	A	rs9903671	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3213911G>A	ENST00000573491.1	-	0	359																		p.E103K(1)									CTGCCTCTCCGAGCTCTTCTT	0.562																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	17						.						95.0	95.0	95.0					17																	3213911		2203	4300	6503	3160661			390756	.																															17.37:g.3213911G>A			3160661	.		Missense_Mutation	SNP	ENST00000573491.1	37																																																																																					0.562	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
RP11-64J4.2	0	broad.mit.edu	37	17	3214525	3214525	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:3214525C>A	ENST00000573491.1	-	0	359																		p.S307S(1)									GTCACTGTTCCTCCGATGCTG	0.577																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	17						.						192.0	156.0	168.0					17																	3214525		2203	4300	6503	3161275			390756	.																															17.37:g.3214525C>A			3161275	.		Silent	SNP	ENST00000573491.1	37																																																																																					0.577	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
FAM27L	284123	broad.mit.edu	37	17	21825572	21825572	+	lincRNA	SNP	C	C	T	rs544493136		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:21825572C>T	ENST00000426869.3	+	0	276					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like									p.F24F(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggagggtgttcgggtgagtct	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17409	0.0		0.0	False		,,,				2504	0.001				.												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	.	17						.						42.0	49.0	47.0					17																	21825572		2017	4170	6187	21749699			284123	.			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825572C>T			21749699	.		Silent	SNP	ENST00000426869.3	37																																																																																					0.632	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392	
GDPD1	284161	broad.mit.edu	37	17	57322763	57322763	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr17:57322763T>G	ENST00000284116.4	+	3	322				GDPD1_ENST00000581276.1_Intron|GDPD1_ENST00000581140.1_Intron	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CATTCTTCTTTTATTTCTTCA	0.328																																					.												.	.	0			.	17						.						109.0	102.0	105.0					17																	57322763		2203	4300	6503	54677545	SO:0001627	intron_variant	284161	.			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.186-12T>G	17.37:g.57322763T>G			54677545	.	A8W735|Q56VR1|Q8N4E3	Intron	SNP	ENST00000284116.4	37	CCDS11616.1																																																																																				0.328	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569	
RRN3	54700	broad.mit.edu	37	16	15173959	15173959	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:15173959G>T	ENST00000198767.6	-	9	750				RRN3_ENST00000540462.1_Intron|RRN3_ENST00000563559.1_Intron|RRN3_ENST00000327307.7_Intron|RRN3_ENST00000564131.1_Intron|RRN3_ENST00000429751.2_Intron|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)						cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CATTCCTAAAGGAGAAAATGT	0.284																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						24.0	23.0	24.0					16																	15173959		2193	4281	6474	15081460	SO:0001627	intron_variant	54700	.			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.667-6C>A	16.37:g.15173959G>T			15081460	.	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Intron	SNP	ENST00000198767.6	37	CCDS10559.1																																																																																				0.284	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252087.2	NM_018427	
EIF3C	8663	broad.mit.edu	37	16	28711752	28711752	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:28711752G>A	ENST00000566501.1	+	2	271					NM_001199142.1	NP_001186071.1			eukaryotic translation initiation factor 3, subunit C									p.F149F(1)		lung(5)|skin(1)	6						GCTGCATGGGGAACTTGGCCT	0.617																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	16						.						26.0	25.0	26.0					16																	28711752		1299	3457	4756	28619253	SO:0001627	intron_variant	728689	.			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000566501.1:c.-30-11226G>A	16.37:g.28711752G>A			28619253	.		Intron	SNP	ENST00000566501.1	37	CCDS10638.1																																																																																				0.617	EIF3C-015	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430990.1	NM_003752	
PRSS53	339105	broad.mit.edu	37	16	31099119	31099119	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr16:31099119G>T	ENST00000280606.6	-	2	233				RP11-196G11.1_ENST00000529564.1_Intron	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		large_intestine(1)|lung(3)	4						CGTGTCCCCAGACCTTACCAC	0.587																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	16						.						53.0	62.0	59.0					16																	31099119		2017	4173	6190	31006620	SO:0001627	intron_variant	339105	.				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.79+7C>A	16.37:g.31099119G>T			31006620	.		Intron	SNP	ENST00000280606.6	37	CCDS42153.1																																																																																				0.587	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268	
MYL12B	103910	broad.mit.edu	37	18	3273084	3273084	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:3273084G>T	ENST00000581193.1	+	2	567				MYL12B_ENST00000400175.5_Intron|MYL12B_ENST00000584539.1_Intron|MYL12B_ENST00000237500.5_Intron	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory						axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)	p.?(1)		breast(1)|large_intestine(1)|lung(2)	4						TCTCTAGGTAGACTTTATATT	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	18						.						138.0	139.0	138.0					18																	3273084		2203	4300	6503	3263084	SO:0001627	intron_variant	103910	.			AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.184+4G>T	18.37:g.3273084G>T			3263084	.	D3DUH6|Q13182|Q7Z5Z4	Intron	SNP	ENST00000581193.1	37	CCDS11831.1																																																																																				0.333	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546	
ZNF271	10778	broad.mit.edu	37	18	32887841	32887841	+	RNA	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr18:32887841T>C	ENST00000399070.3	+	0	2235					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.M418T(1)		large_intestine(3)|lung(9)	12						AAAAATCTAATGAATGCTGTT	0.368																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	18						.						53.0	51.0	51.0					18																	32887841		2203	4300	6503	31141839			10778	.			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887841T>C			31141839	.	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37																																																																																					0.368	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
GCSAM	257144	broad.mit.edu	37	3	111844102	111844102	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:111844102C>A	ENST00000308910.4	-	5	375		c.e5-1		C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Splice_Site	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility						negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)	p.?(1)									ATTCTTTCATCTGGAGAAAGA	0.373																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						109.0	110.0	110.0					3																	111844102		2203	4300	6503	113326792	SO:0001630	splice_region_variant	257144	.			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.191-1G>T	3.37:g.111844102C>A			113326792	.	C9JD17|C9JUG6	Splice_Site	SNP	ENST00000308910.4	37	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044607	0.19748	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4209	0.55520	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCET2	113326792	0.978000	0.34361	0.920000	0.36463	0.172000	0.22775	3.018000	0.49625	2.656000	0.90262	0.561000	0.74099	.		0.373	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785	Intron
SEC22A	26984	broad.mit.edu	37	3	122944152	122944152	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:122944152C>A	ENST00000309934.4	+	3	1437				SEC22A_ENST00000492595.1_Intron|SEC22A_ENST00000477063.1_Intron|SEC22A_ENST00000481965.2_Intron	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.?(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTGGTGAGTTCTGGATCTCAG	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						97.0	97.0	97.0					3																	122944152		2203	4300	6503	124426842	SO:0001627	intron_variant	26984	.			AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.541+8C>A	3.37:g.122944152C>A			124426842	.	B2RE26|Q9Y682	Intron	SNP	ENST00000309934.4	37	CCDS3021.1																																																																																				0.338	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430	
ALG1L	200810	broad.mit.edu	37	3	125649477	125649477	+	Intron	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:125649477A>G	ENST00000340333.3	-	5	439				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)	p.?(1)		large_intestine(2)|lung(2)	4						TGTAAACTGCAGAGAGAACCA	0.592																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						36.0	43.0	40.0					3																	125649477		1356	2296	3652	127132167	SO:0001627	intron_variant	200810	.			BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588	ENST00000340333.3:c.276-5T>C	3.37:g.125649477A>G			127132167	.	D3DNA5	Intron	SNP	ENST00000340333.3	37	CCDS33840.1																																																																																				0.592	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050	
NPRL2	10641	broad.mit.edu	37	3	50387357	50387357	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:50387357C>A	ENST00000232501.3	-	2	609				NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|CYB561D2_ENST00000418577.1_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)						negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)	p.?(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GAGCTAGGGTCTCACACAGTG	0.562																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						140.0	131.0	134.0					3																	50387357		2203	4300	6503	50362361	SO:0001627	intron_variant	10641	.			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.170+4G>T	3.37:g.50387357C>A			50362361	.	A8K831|Q6FGS2|Q9Y249|Q9Y497	Intron	SNP	ENST00000232501.3	37	CCDS2826.1																																																																																				0.562	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545	
WDR82	80335	broad.mit.edu	37	3	52294529	52294529	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:52294529G>T	ENST00000296490.3	-	5	708					NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82						histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TAAGAGAAAAGAAATAAGAAA	0.418																																					.												.	.	0			.	3						.						48.0	47.0	47.0					3																	52294529		1879	4094	5973	52269569	SO:0001627	intron_variant	80335	.			AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.427-12C>A	3.37:g.52294529G>T			52269569	.	A8K5R5|Q8TEB2	Intron	SNP	ENST00000296490.3	37	CCDS2851.2																																																																																				0.418	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	
SYNPR	132204	broad.mit.edu	37	3	63466498	63466498	+	Intron	SNP	T	T	G	rs368959043		TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:63466498T>G	ENST00000295894.5	+	2	393				SYNPR_ENST00000478744.1_Intron|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000460711.1_Intron|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000465156.1_Intron|SYNPR_ENST00000479198.1_Intron	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin							cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)	p.?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TGTTTAATTGTTCTCCACAGC	0.418																																					.	NSCLC(29;1052 1116 20025 32519)											.	.	1	Unknown(1)	large_intestine(1)	.	3						.						147.0	147.0	147.0					3																	63466498		1907	4120	6027	63441538	SO:0001627	intron_variant	132204	.			AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.25-10T>G	3.37:g.63466498T>G			63441538	.	B2R675|G5E9W4	Intron	SNP	ENST00000295894.5	37	CCDS46860.1																																																																																				0.418	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1		
ARL6	84100	broad.mit.edu	37	3	97498994	97498994	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97498994C>T	ENST00000463745.1	+	3	600				ARL6_ENST00000394206.1_Intron|ARL6_ENST00000335979.2_Intron|ARL6_ENST00000496713.1_Intron	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6						cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)	p.?(1)		large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTCTTTTCTCTTAAAGGC	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						65.0	66.0	66.0					3																	97498994		2203	4298	6501	98981684	SO:0001627	intron_variant	84100	.			BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.124-9C>T	3.37:g.97498994C>T			98981684	.	A8KA93|D3DN31	Intron	SNP	ENST00000463745.1	37	CCDS2928.1																																																																																				0.323	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146	
CRYBG3	131544	broad.mit.edu	37	3	97596024	97596024	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97596024A>G	ENST00000182096.4	+	1	206	c.142A>G	c.(142-144)Aat>Gat	p.N48D		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	1996							carbohydrate binding (GO:0030246)	p.N48D(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAACAAGAAAATTCTTCCTT	0.363																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	3						.						61.0	60.0	60.0					3																	97596024		1831	4082	5913	99078714	SO:0001583	missense	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.142A>G	3.37:g.97596024A>G	ENSP00000182096:p.Asn48Asp		99078714	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	A	14.63	2.591446	0.46214	.	.	ENSG00000080200	ENST00000182096	T	0.77229	-1.08	5.6	3.18	0.36537	.	4.758750	0.00166	N	0.000019	T	0.71239	0.3316	L	0.34521	1.04	0.09310	N	0.999992	P	0.48694	0.914	B	0.41374	0.355	T	0.59532	-0.7437	10	0.72032	D	0.01	.	6.9681	0.24635	0.6125:0.3135:0.074:0.0	.	48	Q68DQ2	CRBG3_HUMAN	D	48	ENSP00000182096:N48D	ENSP00000182096:N48D	N	+	1	0	CRYBG3	99078714	0.775000	0.28604	0.659000	0.29680	0.854000	0.48673	2.341000	0.43983	0.399000	0.25367	-0.340000	0.08031	AAT		0.363	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
CRYBG3	131544	broad.mit.edu	37	3	97655645	97655645	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:97655645G>A	ENST00000182096.4	+	16	2618	c.2554G>A	c.(2554-2556)Gga>Aga	p.G852R	CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.G59R	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2800							carbohydrate binding (GO:0030246)	p.G852R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTTATGAAGGATCCAATTT	0.383																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	3						.						98.0	88.0	91.0					3																	97655645		1837	4099	5936	99138335	SO:0001583	missense	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2554G>A	3.37:g.97655645G>A	ENSP00000182096:p.Gly852Arg		99138335	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	18.38	3.612242	0.66672	.	.	ENSG00000080200	ENST00000182096;ENST00000495403;ENST00000389622	T;T;T	0.75154	-0.91;-0.91;-0.91	5.76	5.76	0.90799	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.193661	0.36482	N	0.002561	T	0.76955	0.4060	N	0.14661	0.345	0.51233	D	0.999913	D	0.89917	1.0	D	0.85130	0.997	T	0.75045	-0.3456	10	0.26408	T	0.33	.	19.5917	0.95518	0.0:0.0:1.0:0.0	.	852	Q68DQ2	CRBG3_HUMAN	R	852;58;59	ENSP00000182096:G852R;ENSP00000418420:G58R;ENSP00000374273:G59R	ENSP00000182096:G852R	G	+	1	0	CRYBG3	99138335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.332000	0.72934	2.726000	0.93360	0.655000	0.94253	GGA		0.383	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
C3orf79	152118	broad.mit.edu	37	3	153220187	153220187	+	Intron	SNP	A	A	C			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr3:153220187A>C	ENST00000446603.2	+	3	285				RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79									p.?(1)		endometrium(1)|large_intestine(3)	4						TCTTTTATTAAACAGGAAAGA	0.398																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	3						.						71.0	70.0	70.0					3																	153220187		1838	4088	5926	154702877	SO:0001627	intron_variant	152118	.			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.224-5A>C	3.37:g.153220187A>C			154702877	.		Intron	SNP	ENST00000446603.2	37	CCDS46937.1																																																																																				0.398	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356570.1	NM_001101337	
PRB1	5542	broad.mit.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:11507489C>A	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						186.0	175.0	179.0					12																	11507489		2179	4277	6456	11398756	SO:0001630	splice_region_variant	5542	.				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.65-1G>T	12.37:g.11507489C>A			11398756	.	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Splice_Site	SNP	ENST00000500254.2	37	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	C	3.706	-0.060587	0.07317	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.22127	N	0.999342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9445	0.24510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRB1	11398756	0.346000	0.24844	0.098000	0.21074	0.006000	0.05464	1.273000	0.33121	1.265000	0.44215	0.558000	0.71614	.		0.438	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	Intron
NECAP1	25977	broad.mit.edu	37	12	8242780	8242780	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:8242780T>G	ENST00000339754.5	+	3	274					NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1						endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		AGTCTTTCTCTTATCTGTCAG	0.423																																					.												.	.	0			.	12						.						101.0	103.0	102.0					12																	8242780		2203	4300	6503	8134047	SO:0001627	intron_variant	25977	.			AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.197-11T>G	12.37:g.8242780T>G			8134047	.	Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Intron	SNP	ENST00000339754.5	37	CCDS8589.1																																																																																				0.423	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509	
MGP	4256	broad.mit.edu	37	12	15037140	15037140	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:15037140C>A	ENST00000539261.1	-	2	229				MGP_ENST00000228938.5_Intron|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)	p.?(1)		large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GTTAAATATTCACTTACTAAG	0.264																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						20.0	22.0	21.0					12																	15037140		2163	4246	6409	14928407	SO:0001627	intron_variant	4256	.			M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.94+6G>T	12.37:g.15037140C>A			14928407	.	A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Intron	SNP	ENST00000539261.1	37	CCDS8669.1																																																																																				0.264	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900	
LINC00477	144360	broad.mit.edu	37	12	24736898	24736898	+	lincRNA	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:24736898G>T	ENST00000483544.1	-	0	204					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)		p.I52I(1)									CGAAGAAAAAGATGAAGTCCA	0.493																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	12						.						49.0	52.0	51.0					12																	24736898		2203	4300	6503	24628165			144360	.			AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736898G>T			24628165	.		Silent	SNP	ENST00000483544.1	37																																																																																					0.493	LINC00477-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000355725.1	NM_144667	
CAPS2	84698	broad.mit.edu	37	12	75692758	75692758	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:75692758G>T	ENST00000409445.3	-	11	1108				RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000393284.3_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TGGAAAAATAGAATGAAATCA	0.328																																					.												.	.	0			.	12						.						47.0	47.0	47.0					12																	75692758		2203	4300	6503	73979025	SO:0001627	intron_variant	84698	.			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.912-12C>A	12.37:g.75692758G>T			73979025	.	Q6PH84|Q8N242|Q8NAY5	Intron	SNP	ENST00000409445.3	37	CCDS9008.2																																																																																				0.328	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
CLLU1OS	574016	broad.mit.edu	37	12	92814954	92814954	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:92814954G>T	ENST00000378487.2	-	3	144				RP11-693J15.4_ENST00000508671.1_RNA|CLLU1OS_ENST00000538965.1_Intron|CLLU1_ENST00000378485.1_5'Flank	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand									p.?(1)		large_intestine(1)|lung(7)	8						AGGCCACTGAGAAGAGAACAA	0.413																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						94.0	88.0	90.0					12																	92814954		2203	4300	6503	91339085	SO:0001627	intron_variant	574016	.			AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.143-5C>A	12.37:g.92814954G>T			91339085	.		Intron	SNP	ENST00000378487.2	37	CCDS31871.1																																																																																				0.413	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1		
DENR	8562	broad.mit.edu	37	12	123253328	123253328	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr12:123253328G>T	ENST00000280557.6	+	7	598		c.e7-1		DENR_ENST00000455982.2_Splice_Site|Y_RNA_ENST00000384187.1_RNA	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein						formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)		translation initiation factor activity (GO:0003743)	p.?(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		TAAAAAAATAGAAATTGATCT	0.299																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	12						.						12.0	11.0	11.0					12																	123253328		1773	4028	5801	121819281	SO:0001630	splice_region_variant	8562	.			AF038554	CCDS45003.1	12q24.31	1999-06-17			ENSG00000139726	ENSG00000139726			2769	protein-coding gene	gene with protein product		604550				9628587	Standard	NM_003677		Approved	DRP, DRP1, SMAP-3	uc001uda.3	O43583	OTTHUMG00000168844	ENST00000280557.6:c.413-1G>T	12.37:g.123253328G>T			121819281	.	Q9H3U6|Q9UKZ0	Splice_Site	SNP	ENST00000280557.6	37	CCDS45003.1	.	.	.	.	.	.	.	.	.	.	.	19.76	3.887536	0.72410	.	.	ENSG00000139726	ENST00000280557;ENST00000455982	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5949	0.91226	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DENR	121819281	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.689000	0.98673	2.458000	0.83093	0.638000	0.83543	.		0.299	DENR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401336.1	NM_003677	Intron
SNHG14	104472715	broad.mit.edu	37	15	25332996	25332996	+	RNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25332996C>T	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-20_ENST00000384529.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGAATGTGGTCTCTTATGGGT	0.488																																					.												.	.	0			.	15						.																																			22884089			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332996C>T			22884089	.		Intron	SNP	ENST00000546682.1	37																																																																																					0.488	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25333981	25333981	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25333981C>A	ENST00000546682.1	+	0	586				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNORD116-20_ENST00000384529.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATATACATTCCTTGGAAAGCT	0.458																																					.												.	.	0			.	15						.						277.0	239.0	251.0					15																	25333981		876	1990	2866	22885074			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25333981C>A			22885074	.		Intron	SNP	ENST00000546682.1	37																																																																																					0.458	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25342886	25342886	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25342886C>A	ENST00000546682.1	+	0	1229				SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA|SNORD116-26_ENST00000516006.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGCCACTTCTGTGAGCTGA	0.458																																					.												.	.	0			.	15						.						122.0	109.0	113.0					15																	25342886		876	1991	2867	22893979			100033416	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25342886C>A			22893979	.		Intron	SNP	ENST00000546682.1	37																																																																																					0.458	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1		
SNHG14	104472715	broad.mit.edu	37	15	25477547	25477547	+	RNA	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25477547G>A	ENST00000453082.2	+	0	1700				SNORD115-35_ENST00000365122.1_RNA|SNORD115-33_ENST00000363723.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCAATGATGAGAACCTTATAA	0.502																																					.												.	.	0			.	15						.						355.0	383.0	375.0					15																	25477547		876	1991	2867	23028640			100033802	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25477547G>A			23028640	.		Intron	SNP	ENST00000453082.2	37																																																																																					0.502	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2		
SNHG14	104472715	broad.mit.edu	37	15	25486896	25486896	+	RNA	SNP	T	T	C			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:25486896T>C	ENST00000453082.2	+	0	2156				SNORD115-40_ENST00000606510.1_RNA|SNORD115-38_ENST00000365037.1_RNA|SNORD115-39_ENST00000363694.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTACGTTGGGTCAATGATGAG	0.483																																					.												.	.	0			.	15						.						269.0	278.0	275.0					15																	25486896		876	1991	2867	23037989			100033814	.					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486896T>C			23037989	.		5'Flank	SNP	ENST00000453082.2	37																																																																																					0.483	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2		
HYPK	25764	broad.mit.edu	37	15	44093708	44093708	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:44093708T>G	ENST00000406925.1	+	4	4353				SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000249714.3_5'Flank|HYPK_ENST00000442995.2_Intron|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000458412.1_Intron|HYPK_ENST00000498605.1_3'UTR|RP11-296A16.1_ENST00000417761.2_5'Flank|SERF2_ENST00000600633.1_Intron|SERINC4_ENST00000319327.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)					all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		ATTTAAATATTTTTGCAGGGA	0.418																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						52.0	56.0	55.0					15																	44093708		2197	4298	6495	41881000	SO:0001627	intron_variant	25764	.			AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.243-8T>G	15.37:g.44093708T>G			41881000	.	C9JKJ0|O75408|Q8WUW8|Q9P024	Intron	SNP	ENST00000406925.1	37	CCDS10104.1																																																																																				0.418	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400	
SNRPA1	6627	broad.mit.edu	37	15	101826506	101826506	+	Intron	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr15:101826506G>A	ENST00000254193.6	-	6	532				SNRPA1_ENST00000560856.1_5'Flank	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	poly(A) RNA binding (GO:0044822)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCTACAGCGACACCACACA	0.483																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	15						.						111.0	83.0	92.0					15																	101826506		2203	4300	6503	99644029	SO:0001627	intron_variant	6627	.			AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.460-8C>T	15.37:g.101826506G>A			99644029	.	B2R5I6|Q8TBD2	Intron	SNP	ENST00000254193.6	37	CCDS10391.1																																																																																				0.483	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090	
EIF4E	1977	broad.mit.edu	37	4	99802300	99802300	+	Intron	SNP	G	G	T	rs374891583		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:99802300G>T	ENST00000450253.2	-	7	2064				EIF4E_ENST00000504432.1_Intron|EIF4E_ENST00000280892.6_Intron|EIF4E_ENST00000505992.1_Intron	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CCTCCTAGAAGAAAAAAAAAA	0.338																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	4						.						28.0	27.0	27.0					4																	99802300		2132	4126	6258	100021323	SO:0001627	intron_variant	1977	.			M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.540-7C>A	4.37:g.99802300G>T			100021323	.	B7Z6V1|D6RCQ6|Q96E95	Intron	SNP	ENST00000450253.2	37	CCDS34031.1																																																																																				0.338	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968	
EIF4E	1977	broad.mit.edu	37	4	99809114	99809114	+	Intron	SNP	G	G	T	rs574523603		TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:99809114G>T	ENST00000450253.2	-	4	1746				EIF4E_ENST00000504432.1_Intron|EIF4E_ENST00000280892.6_Intron|EIF4E_ENST00000505992.1_Intron	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CTAGGTAAAAGAAAATAACAA	0.274																																					.												.	.	0			.	4						.						33.0	33.0	33.0					4																	99809114		2199	4289	6488	100028137	SO:0001627	intron_variant	1977	.			M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.222-11C>A	4.37:g.99809114G>T			100028137	.	B7Z6V1|D6RCQ6|Q96E95	Intron	SNP	ENST00000450253.2	37	CCDS34031.1																																																																																				0.274	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968	
TMEM155	132332	broad.mit.edu	37	4	122681448	122681448	+	3'UTR	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr4:122681448C>A	ENST00000337677.5	-	0	952				TMEM155_ENST00000394396.1_3'UTR|TMEM155_ENST00000394394.1_3'UTR	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155							extracellular region (GO:0005576)				breast(1)|lung(5)	6						aactacatttctcagacaatc	0.403																																					.												.	.	0			.	4						.						66.0	66.0	66.0					4																	122681448		2202	4300	6502	122900898	SO:0001624	3_prime_UTR_variant	132332	.			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.*1G>T	4.37:g.122681448C>A			122900898	.	D3DNW9|Q96NI2	3'UTR	SNP	ENST00000337677.5	37	CCDS3721.1																																																																																				0.403	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399	
SSX1	6756	broad.mit.edu	37	X	48123363	48123363	+	Intron	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:48123363A>G	ENST00000376919.3	+	6	602					NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTAAGAGGAAATGATTTGGGA	0.488			T	SS18	synovial sarcoma																																.	Esophageal Squamous(175;994 1982 2214 6527 18857)		Dom	yes		X	Xp11.23-p11.22	6756	"""synovial sarcoma, X breakpoint 1"""		M	.	.	0			.	X						.						66.0	65.0	65.0					X																	48123363		2203	4299	6502	48008307	SO:0001627	intron_variant	6756	.			BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.466+11A>G	X.37:g.48123363A>G			48008307	.	A3KN76|Q08AJ2|Q5JQ64	Intron	SNP	ENST00000376919.3	37	CCDS14290.1																																																																																				0.488	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635	
ASB12	142689	broad.mit.edu	37	X	63445504	63445504	+	5'Flank	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:63445504C>A	ENST00000396130.2	-	0	0				MTMR8_ENST00000453546.1_Missense_Mutation_p.K384N|ASB12_ENST00000362002.2_Missense_Mutation_p.K9N			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.K384N(2)|p.K9N(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TGAGGTTCATCTTGGCTAATT	0.493																																					.												.	.	6	Substitution - Missense(4)|Whole gene deletion(2)	large_intestine(3)|lung(2)|ovary(1)	.	X						.						41.0	32.0	35.0					X																	63445504		2203	4298	6501	63362229	SO:0001631	upstream_gene_variant	142689	.			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705		X.37:g.63445504C>A	Exception_encountered		63362229	.	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	C	9.710	1.156862	0.21454	.	.	ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000361287;ENST00000453546	T;T	0.76839	-0.0;-1.05	4.36	0.196	0.15159	.	0.221056	0.45606	N	0.000351	T	0.57621	0.2066	N	0.22421	0.69	0.26697	N	0.971249	B	0.10296	0.003	B	0.10450	0.005	T	0.39683	-0.9602	10	0.32370	T	0.25	.	5.0044	0.14280	0.0:0.2973:0.1789:0.5237	.	384	B4DQL0	.	N	9;9;384	ENSP00000355195:K9N;ENSP00000394003:K384N	ENSP00000354626:K9N	K	-	3	2	ASB12;MTMR8	63362229	0.996000	0.38824	0.962000	0.40283	0.870000	0.49936	0.222000	0.17699	-0.214000	0.10078	0.529000	0.55759	AAG		0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
TSIX	9383	broad.mit.edu	37	X	73040755	73040755	+	lincRNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73040755C>A	ENST00000604411.1	+	0	28716				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTCCTTGTGTCTGCATAAAAG	0.323																																					.												.	.	0			.	X						.						94.0	91.0	92.0					X																	73040755		876	1991	2867	72957480			9383	.					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73040755C>A			72957480	.		RNA	SNP	ENST00000604411.1	37																																																																																					0.323	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255	
TSIX	9383	broad.mit.edu	37	X	73041547	73041547	+	lincRNA	SNP	C	C	T	rs372167615		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73041547C>T	ENST00000604411.1	+	0	29508				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GATTTAAAAACGGAAAAGGTC	0.363													T|||	1	0.000264901	0.0	0.0014	3775	,	,		13067	0.0		0.0	False		,,,				2504	0.0				.												.	.	0			.	X						.						10.0	10.0	10.0					X																	73041547		875	1985	2860	72958272			9383	.					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73041547C>T			72958272	.		RNA	SNP	ENST00000604411.1	37																																																																																					0.363	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255	
TSIX	9383	broad.mit.edu	37	X	73042851	73042851	+	lincRNA	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73042851T>G	ENST00000604411.1	+	0	30812				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		TTATTCAGTTTTAATAAATTT	0.308																																					.												.	.	0			.	X						.						94.0	101.0	99.0					X																	73042851		875	1990	2865	72959576			9383	.					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73042851T>G			72959576	.		RNA	SNP	ENST00000604411.1	37																																																																																					0.308	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255	
XIST	7503	broad.mit.edu	37	X	73062286	73062286	+	lincRNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73062286C>A	ENST00000429829.1	-	0	10302					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGAATGGTTCTTGTCCCCAG	0.408																																					.												.	.	0			.	X						.						18.0	17.0	17.0					X																	73062286		874	1986	2860	72979011			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062286C>A			72979011	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.408	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
XIST	7503	broad.mit.edu	37	X	73071132	73071132	+	lincRNA	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chrX:73071132C>T	ENST00000429829.1	-	0	1456					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATTGTCCCTGCGGCAAAACCC	0.517																																					.												.	.	0			.	X						.						108.0	103.0	105.0					X																	73071132		876	1991	2867	72987857			7503	.			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071132C>T			72987857	.		RNA	SNP	ENST00000429829.1	37																																																																																					0.517	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564	
C2orf27A	29798	broad.mit.edu	37	2	132509121	132509121	+	5'UTR	SNP	C	C	T	rs201634213	byFrequency	TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:132509121C>T	ENST00000355171.4	+	0	512					NM_013310.3	NP_037442.3	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27A											kidney(1)	1						ATTGGATAATCGGCAGCTCAA	0.368													.|||	8	0.00159744	0.0	0.0014	5008	,	,		19169	0.003		0.002	False		,,,				2504	0.002				.												.	.	0			.	2						.	C		0,4406		0,0,2203	133.0	119.0	124.0			0.6	1.0	2		124	1,8599		0,1,4299	no	utr-5	C2orf27A	NM_013310.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			132509121	1,13005	2203	4300	6503	132225591	SO:0001623	5_prime_UTR_variant	29798	.			AF038169	CCDS2168.1	2q21.2	2010-05-11	2009-04-02	2009-04-02	ENSG00000197927	ENSG00000197927			25077	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 27"""	C2orf27		9110174, 8619474	Standard	NM_013310		Approved		uc002ttf.1	Q580R0	OTTHUMG00000131666	ENST00000355171.4:c.-10C>T	2.37:g.132509121C>T			132225591	.	O43575|Q2M1X0|Q52M10|Q86XG2	5'UTR	SNP	ENST00000355171.4	37	CCDS2168.1																																																																																				0.368	C2orf27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254569.4	NM_013310	
HOXD8	3234	broad.mit.edu	37	2	176996033	176996033	+	Intron	SNP	T	T	G			TCGA-AG-A002-01	TCGA-AG-A002-01	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:176996033T>G	ENST00000313173.4	+	2	1204				HOXD8_ENST00000450510.2_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000544999.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8						anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCTTTTTTTTTGTTTTAATCA	0.423																																					.												.	.	0			.	2						.						48.0	56.0	53.0					2																	176996033		2161	4272	6433	176704279	SO:0001627	intron_variant	3234	.				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.578-12T>G	2.37:g.176996033T>G			176704279	.	F8WBG7|Q5BL00|Q8IXZ1	Intron	SNP	ENST00000313173.4	37	CCDS2268.1																																																																																				0.423	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1		
C2orf47	79568	broad.mit.edu	37	2	200824068	200824068	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:200824068G>T	ENST00000392290.1	+	2	718				C2orf47_ENST00000469156.1_Intron|C2orf47_ENST00000295079.2_Intron			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47							mitochondrion (GO:0005739)		p.?(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AAGAGGTAAAGTATATTTTAC	0.323																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						112.0	117.0	115.0					2																	200824068		2203	4299	6502	200532313	SO:0001627	intron_variant	79568	.			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.522+6G>T	2.37:g.200824068G>T			200532313	.	Q658V9|Q9H671	Intron	SNP	ENST00000392290.1	37	CCDS2329.1																																																																																				0.323	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520	
EEF1B2	1933	broad.mit.edu	37	2	207027212	207027212	+	Splice_Site	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:207027212G>T	ENST00000392222.2	+	5	772		c.e5-1		EEF1B2_ENST00000392221.1_Splice_Site|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000233190.6_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000236957.5_Splice_Site	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.?(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ATTGTTTTTAGAACCTGCACT	0.363																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						104.0	113.0	110.0					2																	207027212		2203	4300	6503	206735457	SO:0001630	splice_region_variant	1933	.			X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.398-1G>T	2.37:g.207027212G>T			206735457	.	A8K795|Q6IBH9	Splice_Site	SNP	ENST00000392222.2	37	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323571	0.60634	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2326	0.89938	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEF1B2	206735457	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	8.710000	0.91388	2.308000	0.77769	0.655000	0.94253	.		0.363	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663	Intron
ATL2	64225	broad.mit.edu	37	2	38540386	38540386	+	Splice_Site	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:38540386C>T	ENST00000378954.4	-	7	713		c.e7-1		ATL2_ENST00000406122.1_Splice_Site|ATL2_ENST00000546051.1_Splice_Site|ATL2_ENST00000332337.4_Splice_Site|ATL2_ENST00000402054.1_Splice_Site|ATL2_ENST00000419554.2_Splice_Site|ATL2_ENST00000539122.1_Splice_Site|ATL2_ENST00000452935.2_Splice_Site	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ACATTAATGTCTATACACAGA	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	2						.						61.0	56.0	58.0					2																	38540386		2202	4300	6502	38393890	SO:0001630	splice_region_variant	64225	.				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.712-1G>A	2.37:g.38540386C>T			38393890	.	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Splice_Site	SNP	ENST00000378954.4	37	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511039	0.85389	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130;ENST00000443098	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9865	0.92773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATL2	38393890	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	7.666000	0.83877	2.724000	0.93272	0.561000	0.74099	.		0.294	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374	Intron
CRIPT	9419	broad.mit.edu	37	2	46851290	46851290	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:46851290C>A	ENST00000238892.3	+	5	373				CRIPT_ENST00000486447.1_Intron	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein						cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)			kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CACATATCTTCTTTTGTTTCA	0.333																																					.												.	.	0			.	2						.						71.0	74.0	73.0					2																	46851290		2203	4300	6503	46704794	SO:0001627	intron_variant	9419	.			AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.242-12C>A	2.37:g.46851290C>A			46704794	.		Intron	SNP	ENST00000238892.3	37	CCDS1829.1																																																																																				0.333	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171	
LINC00471	151477	broad.mit.edu	37	2	232373833	232373833	+	RNA	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr2:232373833C>A	ENST00000313064.2	-	0	585					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471									p.M86I(1)									CACAGCCACTCATCGGGAACC	0.498																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	2						.						161.0	153.0	156.0					2																	232373833		2203	4300	6503	232082077			151477	.			BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373833C>A			232082077	.		Missense_Mutation	SNP	ENST00000313064.2	37																																																																																					0.498	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513	
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029467	22029467	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:22029467G>T	ENST00000404796.2	+	5	496	c.383G>T	c.(382-384)aGa>aTa	p.R128I	CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA														p.0(1)|p.0?(1)									GATTCCAAGAGAGAATATTGG	0.428																																					.												.	.	2	Whole gene deletion(2)	lung(2)	.	9						.						334.0	307.0	315.0					9																	22029467		876	1991	2867	22019467	SO:0001583	missense	4507	.																														ENST00000404796.2:c.383G>T	9.37:g.22029467G>T	ENSP00000385916:p.Arg128Ile		22019467	.		Missense_Mutation	SNP	ENST00000404796.2	37																																																																																					0.428	RP11-145E5.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445913.1		
ENHO	375704	broad.mit.edu	37	9	34521451	34521451	+	3'UTR	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:34521451G>T	ENST00000399775.2	-	0	668				RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated							extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						CTCCAGGCTAGGCCAGGGGCC	0.637																																					.												.	.	0			.	9						.						31.0	36.0	35.0					9																	34521451		1929	4114	6043	34511451	SO:0001624	3_prime_UTR_variant	375704	.			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"""adropin"""		"""chromosome 9 open reading frame 165"""	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.*12C>A	9.37:g.34521451G>T			34511451	.	Q8N666	3'UTR	SNP	ENST00000399775.2	37	CCDS43795.1																																																																																				0.637	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356348.1	NM_198573	
GPR107	57720	broad.mit.edu	37	9	132897408	132897408	+	3'UTR	SNP	G	G	A			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr9:132897408G>A	ENST00000372406.1	+	0	2318				GPR107_ENST00000372410.3_3'UTR|GPR107_ENST00000347136.6_3'UTR	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGACAGAGCCGACCCTGAGGA	0.537																																					.												.	.	0			.	9						.						54.0	50.0	51.0					9																	132897408		2203	4300	6503	131937229	SO:0001624	3_prime_UTR_variant	57720	.			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.*8G>A	9.37:g.132897408G>A			131937229	.	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	3'UTR	SNP	ENST00000372406.1	37	CCDS48041.1																																																																																				0.537	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		
AKR1CL1	340811	broad.mit.edu	37	10	5204847	5204847	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	SOLID			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr10:5204847A>G	ENST00000334314.3	-	2	306	c.230T>C	c.(229-231)gTc>gCc	p.V77A	AKR1CL1_ENST00000465430.1_5'Flank			Q5T2L2	AKCL1_HUMAN	aldo-keto reductase family 1, member C-like 1	77						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)	p.V77A(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCTCTCTTGACGGTACCATC	0.418																																					.	Ovarian(129;1623 1737 25446 28757 47467)											.	.	1	Substitution - Missense(1)	large_intestine(1)	.	10						.						211.0	196.0	201.0					10																	5204847		2203	4300	6503	5194847	SO:0001583	missense	340811	.					10p15.2	2014-05-06			ENSG00000196326	ENSG00000264006			23469	protein-coding gene	gene with protein product						15164054	Standard	NR_027916		Approved		uc009xhz.2	Q5T2L2	OTTHUMG00000184213	ENST00000334314.3:c.230T>C	10.37:g.5204847A>G	ENSP00000334626:p.Val77Ala		5194847	.	A6NF66|Q6ZN81	Missense_Mutation	SNP	ENST00000334314.3	37		.	.	.	.	.	.	.	.	.	.	A	14.87	2.665847	0.47677	.	.	ENSG00000196326	ENST00000488756;ENST00000334314	T;T	0.53640	0.61;0.61	3.33	2.16	0.27623	.	0.000000	0.41605	U	0.000841	T	0.45736	0.1357	.	.	.	0.22666	N	0.998877	.	.	.	.	.	.	T	0.39761	-0.9598	7	0.87932	D	0	.	6.9627	0.24605	0.8789:0.0:0.1211:0.0	.	.	.	.	A	77	ENSP00000417935:V77A;ENSP00000334626:V77A	ENSP00000334626:V77A	V	-	2	0	AKR1CL1	5194847	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.994000	0.63901	0.303000	0.22785	-0.756000	0.03474	GTC		0.418	AKR1CL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NR_027916	
UBE2D2	7322	broad.mit.edu	37	5	138994440	138994440	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:138994440C>T	ENST00000398733.3	+	5	824				UBE2D2_ENST00000505548.1_Intron|UBE2D2_ENST00000511725.1_Intron|UBE2D2_ENST00000253815.2_Intron	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2						cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCTTTCTTTCTGTAGGTTGC	0.333																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						99.0	101.0	100.0					5																	138994440		2203	4298	6501	138974624	SO:0001627	intron_variant	7322	.			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.199-6C>T	5.37:g.138994440C>T			138974624	.	D3DQC9|P51669|Q3MN78|Q96RP6	Intron	SNP	ENST00000398733.3	37	CCDS43369.1																																																																																				0.333	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838	
C5orf46	389336	broad.mit.edu	37	5	147281180	147281180	+	Intron	SNP	C	C	T			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:147281180C>T	ENST00000318315.4	-	2	216				C5orf46_ENST00000510432.1_Intron|C5orf46_ENST00000515291.1_3'UTR	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46							extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						CAACGTTTTTCTCAGTGCTTA	0.428																																					.												.	.	0			.	5						.						128.0	115.0	119.0					5																	147281180		2203	4300	6503	147261373	SO:0001627	intron_variant	389336	.				CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"""skin and saliva secreted protein 1"""						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.215+11G>A	5.37:g.147281180C>T			147261373	.	A8K038|Q8WU04	Intron	SNP	ENST00000318315.4	37	CCDS34267.1																																																																																				0.428	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966	
NUDCD2	134492	broad.mit.edu	37	5	162881063	162881063	+	Intron	SNP	G	G	T			TCGA-AG-A002-01	TCGA-AG-A002-01	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:162881063G>T	ENST00000302764.4	-	4	480				NUDCD2_ENST00000519395.1_5'Flank|NUDCD2_ENST00000517501.1_Intron	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)		p.?(1)		large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		GATTCTAAAAGATACAAACAT	0.294																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						54.0	50.0	51.0					5																	162881063		2203	4300	6503	162813641	SO:0001627	intron_variant	134492	.			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.391-7C>A	5.37:g.162881063G>T			162813641	.	B2R4V0	Intron	SNP	ENST00000302764.4	37	CCDS4361.1																																																																																				0.294	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266	
TMEM167A	153339	broad.mit.edu	37	5	82360062	82360062	+	Intron	SNP	A	A	G			TCGA-AG-A002-01	TCGA-AG-A002-01	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:82360062A>G	ENST00000502346.1	-	2	286				TMEM167A_ENST00000511450.1_Intron|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						CCTTTACTAGAAGGTTGGCAG	0.368																																					.												.	.	0			.	5						.						44.0	41.0	42.0					5																	82360062		876	1990	2866	82395818	SO:0001627	intron_variant	153339	.			BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.113+764T>C	5.37:g.82360062A>G			82395818	.	Q0P692	Intron	SNP	ENST00000502346.1	37	CCDS34198.1																																																																																				0.368	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909	
FAM174A	345757	broad.mit.edu	37	5	99897747	99897747	+	Intron	SNP	C	C	A	rs372584492		TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:99897747C>A	ENST00000312637.4	+	2	660					NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A							integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ttaatttGTTCTATTTGATAG	0.259																																					.												.	.	0			.	5						.	C		0,4406		0,0,2203	59.0	58.0	59.0			-1.5	0.0	5		59	2,8596	1.2+/-3.3	0,2,4297	no	intron	FAM174A	NM_198507.1		0,2,6500	AA,AC,CC		0.0233,0.0,0.0154			99897747	2,13002	2203	4299	6502	99925646	SO:0001627	intron_variant	345757	.			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.435-11C>A	5.37:g.99897747C>A			99925646	.	A8K0H4	Intron	SNP	ENST00000312637.4	37	CCDS4090.1																																																																																				0.259	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507	
FAM153C	653316	broad.mit.edu	37	5	177466380	177466380	+	Intron	SNP	C	C	A			TCGA-AG-A002-01	TCGA-AG-A002-01	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina	TCGA-AG-A002-01	TCGA-AG-A002-01	g.chr5:177466380C>A	ENST00000507848.1	+	6	309				FAM153C_ENST00000398106.2_Intron|FAM153C_ENST00000511189.1_Intron			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C									p.?(1)		kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTCTGTCATTACAGACA	0.438																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	5						.						238.0	250.0	246.0					5																	177466380		2202	4298	6500	177398986	SO:0001627	intron_variant	653316	.			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.109-8C>A	5.37:g.177466380C>A			177398986	.	A4IF33|B2RUV5|B7ZW12	Intron	SNP	ENST00000507848.1	37																																																																																					0.438	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1	NM_001079527	
